Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.47803431_47807699delCA1139656956FBXO11,MSH6c.2887_*839del
c.3184_*839del
c.169+498_169+4766del (n.169+498_169+4766del)
c.*124+297_*124+4565del (n.*124+297_*124+4565del)
ClinVar
2g.47806660_47806767dupCA2739274449FBXO11,MSH6c.3704+9_3705-12dup (n.3704+9_3705-12dup)
c.3617+9_3618-12dup (n.3617+9_3618-12dup)
n.4675+9_4676-12dup
c.2435+9_2436-12dup (n.2435+9_2436-12dup)
c.4007+9_4008-12dup (n.4007+9_4008-12dup)
c.1456+9_1457-12dup (n.1456+9_1457-12dup)
c.2774+9_2775-12dup (n.2774+9_2775-12dup)
n.2861_2968dup
n.2596+9_2597-12dup
n.2263+9_2264-12dup
n.2665+9_2666-12dup
n.1410+9_1411-12dup
n.3295+9_3296-12dup
n.3981_4088dup
n.4243_4350dup
c.4001+9_4002-12dup (n.4001+9_4002-12dup)
c.3611+9_3612-12dup (n.3611+9_3612-12dup)
c.169+1428_169+1535dup (n.169+1428_169+1535dup)
c.*124+1227_*124+1334dup (n.*124+1227_*124+1334dup)
c.*3348+9_*3349-12dup (n.*3348+9_*3349-12dup)
c.3095+9_3096-12dup (n.3095+9_3096-12dup)
c.902+9_903-12dup (n.902+9_903-12dup)
c.3818+9_3819-12dup (n.3818+9_3819-12dup)
c.4094+9_4095-12dup (n.4094+9_4095-12dup)
c.3911+9_3912-12dup (n.3911+9_3912-12dup)
c.3797+9_3798-12dup (n.3797+9_3798-12dup)
c.3188+9_3189-12dup (n.3188+9_3189-12dup)
ClinVar
2g.47806768_47806769insAATTTTAAGGGATGATGCACTATGAAAAAACAAAAAAACTTTTTTTTTTTTTTTTTCA2749812265FBXO11,MSH6c.3705-11_3705-10insAATTTTAAGGGATGATGCACTATGAAAAAACAAAAAAACTTTTTTTTTTTTTTTTT (n.3705-11_3705-10insAATTTTAAGGGATGATGCACTATGAAAAAACAAAAAAACTTTTTTTTTTTTTTTTT)
c.3618-11_3618-10insAATTTTAAGGGATGATGCACTATGAAAAAACAAAAAAACTTTTTTTTTTTTTTTTT (n.3618-11_3618-10insAATTTTAAGGGATGATGCACTATGAAAAAACAAAAAAACTTTTTTTTTTTTTTTTT)
n.4676-11_4676-10insAATTTTAAGGGATGATGCACTATGAAAAAACAAAAAAACTTTTTTTTTTTTTTTTT
c.2436-11_2436-10insAATTTTAAGGGATGATGCACTATGAAAAAACAAAAAAACTTTTTTTTTTTTTTTTT (n.2436-11_2436-10insAATTTTAAGGGATGATGCACTATGAAAAAACAAAAAAACTTTTTTTTTTTTTTTTT)
c.4008-11_4008-10insAATTTTAAGGGATGATGCACTATGAAAAAACAAAAAAACTTTTTTTTTTTTTTTTT (n.4008-11_4008-10insAATTTTAAGGGATGATGCACTATGAAAAAACAAAAAAACTTTTTTTTTTTTTTTTT)
c.1457-11_1457-10insAATTTTAAGGGATGATGCACTATGAAAAAACAAAAAAACTTTTTTTTTTTTTTTTT (n.1457-11_1457-10insAATTTTAAGGGATGATGCACTATGAAAAAACAAAAAAACTTTTTTTTTTTTTTTTT)
c.2775-11_2775-10insAATTTTAAGGGATGATGCACTATGAAAAAACAAAAAAACTTTTTTTTTTTTTTTTT (n.2775-11_2775-10insAATTTTAAGGGATGATGCACTATGAAAAAACAAAAAAACTTTTTTTTTTTTTTTTT)
n.2969_2970insAATTTTAAGGGATGATGCACTATGAAAAAACAAAAAAACTTTTTTTTTTTTTTTTT
n.2597-11_2597-10insAATTTTAAGGGATGATGCACTATGAAAAAACAAAAAAACTTTTTTTTTTTTTTTTT
n.2264-11_2264-10insAATTTTAAGGGATGATGCACTATGAAAAAACAAAAAAACTTTTTTTTTTTTTTTTT
n.2666-11_2666-10insAATTTTAAGGGATGATGCACTATGAAAAAACAAAAAAACTTTTTTTTTTTTTTTTT
n.1411-11_1411-10insAATTTTAAGGGATGATGCACTATGAAAAAACAAAAAAACTTTTTTTTTTTTTTTTT
n.3296-11_3296-10insAATTTTAAGGGATGATGCACTATGAAAAAACAAAAAAACTTTTTTTTTTTTTTTTT
n.4029_4030insAAAATTAAAAAAAAAAAAAAAAAGTTTTTTTGTTTTTTCATAGTGCATCATCCCTT
n.4291_4292insAAAATTAAAAAAAAAAAAAAAAAGTTTTTTTGTTTTTTCATAGTGCATCATCCCTT
c.4002-11_4002-10insAATTTTAAGGGATGATGCACTATGAAAAAACAAAAAAACTTTTTTTTTTTTTTTTT (n.4002-11_4002-10insAATTTTAAGGGATGATGCACTATGAAAAAACAAAAAAACTTTTTTTTTTTTTTTTT)
c.3612-11_3612-10insAATTTTAAGGGATGATGCACTATGAAAAAACAAAAAAACTTTTTTTTTTTTTTTTT (n.3612-11_3612-10insAATTTTAAGGGATGATGCACTATGAAAAAACAAAAAAACTTTTTTTTTTTTTTTTT)
c.169+1476_169+1477insAAAATTAAAAAAAAAAAAAAAAAGTTTTTTTGTTTTTTCATAGTGCATCATCCCTT (n.169+1476_169+1477insAAAATTAAAAAAAAAAAAAAAAAGTTTTTTTGTTTTTTCATAGTGCATCATCCCTT)
c.*124+1275_*124+1276insAAAATTAAAAAAAAAAAAAAAAAGTTTTTTTGTTTTTTCATAGTGCATCATCCCTT (n.*124+1275_*124+1276insAAAATTAAAAAAAAAAAAAAAAAGTTTTTTTGTTTTTTCATAGTGCATCATCCCTT)
c.*3349-11_*3349-10insAATTTTAAGGGATGATGCACTATGAAAAAACAAAAAAACTTTTTTTTTTTTTTTTT (n.*3349-11_*3349-10insAATTTTAAGGGATGATGCACTATGAAAAAACAAAAAAACTTTTTTTTTTTTTTTTT)
c.3096-11_3096-10insAATTTTAAGGGATGATGCACTATGAAAAAACAAAAAAACTTTTTTTTTTTTTTTTT (n.3096-11_3096-10insAATTTTAAGGGATGATGCACTATGAAAAAACAAAAAAACTTTTTTTTTTTTTTTTT)
c.903-11_903-10insAATTTTAAGGGATGATGCACTATGAAAAAACAAAAAAACTTTTTTTTTTTTTTTTT (n.903-11_903-10insAATTTTAAGGGATGATGCACTATGAAAAAACAAAAAAACTTTTTTTTTTTTTTTTT)
c.3819-11_3819-10insAATTTTAAGGGATGATGCACTATGAAAAAACAAAAAAACTTTTTTTTTTTTTTTTT (n.3819-11_3819-10insAATTTTAAGGGATGATGCACTATGAAAAAACAAAAAAACTTTTTTTTTTTTTTTTT)
c.4095-11_4095-10insAATTTTAAGGGATGATGCACTATGAAAAAACAAAAAAACTTTTTTTTTTTTTTTTT (n.4095-11_4095-10insAATTTTAAGGGATGATGCACTATGAAAAAACAAAAAAACTTTTTTTTTTTTTTTTT)
c.3912-11_3912-10insAATTTTAAGGGATGATGCACTATGAAAAAACAAAAAAACTTTTTTTTTTTTTTTTT (n.3912-11_3912-10insAATTTTAAGGGATGATGCACTATGAAAAAACAAAAAAACTTTTTTTTTTTTTTTTT)
c.3798-11_3798-10insAATTTTAAGGGATGATGCACTATGAAAAAACAAAAAAACTTTTTTTTTTTTTTTTT (n.3798-11_3798-10insAATTTTAAGGGATGATGCACTATGAAAAAACAAAAAAACTTTTTTTTTTTTTTTTT)
c.3189-11_3189-10insAATTTTAAGGGATGATGCACTATGAAAAAACAAAAAAACTTTTTTTTTTTTTTTTT (n.3189-11_3189-10insAATTTTAAGGGATGATGCACTATGAAAAAACAAAAAAACTTTTTTTTTTTTTTTTT)
2g.47806725_47806781delCA2573134802FBXO11,MSH6c.3705-54_3707del
c.3618-54_3620del
n.4676-54_4678del
c.2436-54_2438del
c.4008-54_4010del
c.1457-54_1459del
c.2775-54_2777del
n.2926_2982del
n.2597-54_2599del
n.2264-54_2266del
n.2666-54_2668del
n.1411-54_1413del
n.3296-54_3298del
n.3973_4029del
n.4235_4291del
c.4002-54_4004del
c.3612-54_3614del
c.169+1420_169+1476del (n.169+1420_169+1476del)
c.*124+1219_*124+1275del (n.*124+1219_*124+1275del)
c.*3349-54_*3351del
c.3096-54_3098del
c.903-54_905del
c.3819-54_3821del
c.4095-54_4097del
c.3912-54_3914del
c.3798-54_3800del
c.3189-54_3191del
ClinVar dbSNP
2g.47806746_47806768dupCA2658969499FBXO11,MSH6c.3705-33_3705-11dup (n.3705-33_3705-11dup)
c.3618-33_3618-11dup (n.3618-33_3618-11dup)
n.4676-33_4676-11dup
c.2436-33_2436-11dup (n.2436-33_2436-11dup)
c.4008-33_4008-11dup (n.4008-33_4008-11dup)
c.1457-33_1457-11dup (n.1457-33_1457-11dup)
c.2775-33_2775-11dup (n.2775-33_2775-11dup)
n.2947_2969dup
n.2597-33_2597-11dup
n.2264-33_2264-11dup
n.2666-33_2666-11dup
n.1411-33_1411-11dup
n.3296-33_3296-11dup
n.3980_4002dup
n.4242_4264dup
c.4002-33_4002-11dup (n.4002-33_4002-11dup)
c.3612-33_3612-11dup (n.3612-33_3612-11dup)
c.169+1427_169+1449dup (n.169+1427_169+1449dup)
c.*124+1226_*124+1248dup (n.*124+1226_*124+1248dup)
c.*3349-33_*3349-11dup (n.*3349-33_*3349-11dup)
c.3096-33_3096-11dup (n.3096-33_3096-11dup)
c.903-33_903-11dup (n.903-33_903-11dup)
c.3819-33_3819-11dup (n.3819-33_3819-11dup)
c.4095-33_4095-11dup (n.4095-33_4095-11dup)
c.3912-33_3912-11dup (n.3912-33_3912-11dup)
c.3798-33_3798-11dup (n.3798-33_3798-11dup)
c.3189-33_3189-11dup (n.3189-33_3189-11dup)
gnomAD v4
2g.47806747_47806764dupCA2658969536FBXO11,MSH6c.3705-32_3705-15dup (n.3705-32_3705-15dup)
c.3618-32_3618-15dup (n.3618-32_3618-15dup)
n.4676-32_4676-15dup
c.2436-32_2436-15dup (n.2436-32_2436-15dup)
c.4008-32_4008-15dup (n.4008-32_4008-15dup)
c.1457-32_1457-15dup (n.1457-32_1457-15dup)
c.2775-32_2775-15dup (n.2775-32_2775-15dup)
n.2948_2965dup
n.2597-32_2597-15dup
n.2264-32_2264-15dup
n.2666-32_2666-15dup
n.1411-32_1411-15dup
n.3296-32_3296-15dup
n.3984_4001dup
n.4246_4263dup
c.4002-32_4002-15dup (n.4002-32_4002-15dup)
c.3612-32_3612-15dup (n.3612-32_3612-15dup)
c.169+1431_169+1448dup (n.169+1431_169+1448dup)
c.*124+1230_*124+1247dup (n.*124+1230_*124+1247dup)
c.*3349-32_*3349-15dup (n.*3349-32_*3349-15dup)
c.3096-32_3096-15dup (n.3096-32_3096-15dup)
c.903-32_903-15dup (n.903-32_903-15dup)
c.3819-32_3819-15dup (n.3819-32_3819-15dup)
c.4095-32_4095-15dup (n.4095-32_4095-15dup)
c.3912-32_3912-15dup (n.3912-32_3912-15dup)
c.3798-32_3798-15dup (n.3798-32_3798-15dup)
c.3189-32_3189-15dup (n.3189-32_3189-15dup)
gnomAD v4
2g.47806747_47806765dupCA2658969535FBXO11,MSH6c.3705-32_3705-14dup (n.3705-32_3705-14dup)
c.3618-32_3618-14dup (n.3618-32_3618-14dup)
n.4676-32_4676-14dup
c.2436-32_2436-14dup (n.2436-32_2436-14dup)
c.4008-32_4008-14dup (n.4008-32_4008-14dup)
c.1457-32_1457-14dup (n.1457-32_1457-14dup)
c.2775-32_2775-14dup (n.2775-32_2775-14dup)
n.2948_2966dup
n.2597-32_2597-14dup
n.2264-32_2264-14dup
n.2666-32_2666-14dup
n.1411-32_1411-14dup
n.3296-32_3296-14dup
n.3983_4001dup
n.4245_4263dup
c.4002-32_4002-14dup (n.4002-32_4002-14dup)
c.3612-32_3612-14dup (n.3612-32_3612-14dup)
c.169+1430_169+1448dup (n.169+1430_169+1448dup)
c.*124+1229_*124+1247dup (n.*124+1229_*124+1247dup)
c.*3349-32_*3349-14dup (n.*3349-32_*3349-14dup)
c.3096-32_3096-14dup (n.3096-32_3096-14dup)
c.903-32_903-14dup (n.903-32_903-14dup)
c.3819-32_3819-14dup (n.3819-32_3819-14dup)
c.4095-32_4095-14dup (n.4095-32_4095-14dup)
c.3912-32_3912-14dup (n.3912-32_3912-14dup)
c.3798-32_3798-14dup (n.3798-32_3798-14dup)
c.3189-32_3189-14dup (n.3189-32_3189-14dup)
gnomAD v4
2g.47806747_47806767dupCA2658969533FBXO11,MSH6c.3705-32_3705-12dup (n.3705-32_3705-12dup)
c.3618-32_3618-12dup (n.3618-32_3618-12dup)
n.4676-32_4676-12dup
c.2436-32_2436-12dup (n.2436-32_2436-12dup)
c.4008-32_4008-12dup (n.4008-32_4008-12dup)
c.1457-32_1457-12dup (n.1457-32_1457-12dup)
c.2775-32_2775-12dup (n.2775-32_2775-12dup)
n.2948_2968dup
n.2597-32_2597-12dup
n.2264-32_2264-12dup
n.2666-32_2666-12dup
n.1411-32_1411-12dup
n.3296-32_3296-12dup
n.3981_4001dup
n.4243_4263dup
c.4002-32_4002-12dup (n.4002-32_4002-12dup)
c.3612-32_3612-12dup (n.3612-32_3612-12dup)
c.169+1428_169+1448dup (n.169+1428_169+1448dup)
c.*124+1227_*124+1247dup (n.*124+1227_*124+1247dup)
c.*3349-32_*3349-12dup (n.*3349-32_*3349-12dup)
c.3096-32_3096-12dup (n.3096-32_3096-12dup)
c.903-32_903-12dup (n.903-32_903-12dup)
c.3819-32_3819-12dup (n.3819-32_3819-12dup)
c.4095-32_4095-12dup (n.4095-32_4095-12dup)
c.3912-32_3912-12dup (n.3912-32_3912-12dup)
c.3798-32_3798-12dup (n.3798-32_3798-12dup)
c.3189-32_3189-12dup (n.3189-32_3189-12dup)
gnomAD v4
2g.47806747_47806768dupCA1649497FBXO11,MSH6c.3705-32_3705-11dup (n.3705-32_3705-11dup)
c.3618-32_3618-11dup (n.3618-32_3618-11dup)
n.4676-32_4676-11dup
c.2436-32_2436-11dup (n.2436-32_2436-11dup)
c.4008-32_4008-11dup (n.4008-32_4008-11dup)
c.1457-32_1457-11dup (n.1457-32_1457-11dup)
c.2775-32_2775-11dup (n.2775-32_2775-11dup)
n.2948_2969dup
n.2597-32_2597-11dup
n.2264-32_2264-11dup
n.2666-32_2666-11dup
n.1411-32_1411-11dup
n.3296-32_3296-11dup
n.3980_4001dup
n.4242_4263dup
c.4002-32_4002-11dup (n.4002-32_4002-11dup)
c.3612-32_3612-11dup (n.3612-32_3612-11dup)
c.169+1427_169+1448dup (n.169+1427_169+1448dup)
c.*124+1226_*124+1247dup (n.*124+1226_*124+1247dup)
c.*3349-32_*3349-11dup (n.*3349-32_*3349-11dup)
c.3096-32_3096-11dup (n.3096-32_3096-11dup)
c.903-32_903-11dup (n.903-32_903-11dup)
c.3819-32_3819-11dup (n.3819-32_3819-11dup)
c.4095-32_4095-11dup (n.4095-32_4095-11dup)
c.3912-32_3912-11dup (n.3912-32_3912-11dup)
c.3798-32_3798-11dup (n.3798-32_3798-11dup)
c.3189-32_3189-11dup (n.3189-32_3189-11dup)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.47806769_47806770insTAAAACTTTTTTTTTTTTTTTTTTCA532705567FBXO11,MSH6c.3705-10_3705-9insTAAAACTTTTTTTTTTTTTTTTTT (n.3705-10_3705-9insTAAAACTTTTTTTTTTTTTTTTTT)
c.3618-10_3618-9insTAAAACTTTTTTTTTTTTTTTTTT (n.3618-10_3618-9insTAAAACTTTTTTTTTTTTTTTTTT)
n.4676-10_4676-9insTAAAACTTTTTTTTTTTTTTTTTT
c.2436-10_2436-9insTAAAACTTTTTTTTTTTTTTTTTT (n.2436-10_2436-9insTAAAACTTTTTTTTTTTTTTTTTT)
c.4008-10_4008-9insTAAAACTTTTTTTTTTTTTTTTTT (n.4008-10_4008-9insTAAAACTTTTTTTTTTTTTTTTTT)
c.1457-10_1457-9insTAAAACTTTTTTTTTTTTTTTTTT (n.1457-10_1457-9insTAAAACTTTTTTTTTTTTTTTTTT)
c.2775-10_2775-9insTAAAACTTTTTTTTTTTTTTTTTT (n.2775-10_2775-9insTAAAACTTTTTTTTTTTTTTTTTT)
n.2970_2971insTAAAACTTTTTTTTTTTTTTTTTT
n.2597-10_2597-9insTAAAACTTTTTTTTTTTTTTTTTT
n.2264-10_2264-9insTAAAACTTTTTTTTTTTTTTTTTT
n.2666-10_2666-9insTAAAACTTTTTTTTTTTTTTTTTT
n.1411-10_1411-9insTAAAACTTTTTTTTTTTTTTTTTT
n.3296-10_3296-9insTAAAACTTTTTTTTTTTTTTTTTT
n.4001_4002insAAAAAAAAAAAAAAAAAAAGTTTT
n.4263_4264insAAAAAAAAAAAAAAAAAAAGTTTT
c.4002-10_4002-9insTAAAACTTTTTTTTTTTTTTTTTT (n.4002-10_4002-9insTAAAACTTTTTTTTTTTTTTTTTT)
c.3612-10_3612-9insTAAAACTTTTTTTTTTTTTTTTTT (n.3612-10_3612-9insTAAAACTTTTTTTTTTTTTTTTTT)
c.169+1448_169+1449insAAAAAAAAAAAAAAAAAAAGTTTT (n.169+1448_169+1449insAAAAAAAAAAAAAAAAAAAGTTTT)
c.*124+1247_*124+1248insAAAAAAAAAAAAAAAAAAAGTTTT (n.*124+1247_*124+1248insAAAAAAAAAAAAAAAAAAAGTTTT)
c.*3349-10_*3349-9insTAAAACTTTTTTTTTTTTTTTTTT (n.*3349-10_*3349-9insTAAAACTTTTTTTTTTTTTTTTTT)
c.3096-10_3096-9insTAAAACTTTTTTTTTTTTTTTTTT (n.3096-10_3096-9insTAAAACTTTTTTTTTTTTTTTTTT)
c.903-10_903-9insTAAAACTTTTTTTTTTTTTTTTTT (n.903-10_903-9insTAAAACTTTTTTTTTTTTTTTTTT)
c.3819-10_3819-9insTAAAACTTTTTTTTTTTTTTTTTT (n.3819-10_3819-9insTAAAACTTTTTTTTTTTTTTTTTT)
c.4095-10_4095-9insTAAAACTTTTTTTTTTTTTTTTTT (n.4095-10_4095-9insTAAAACTTTTTTTTTTTTTTTTTT)
c.3912-10_3912-9insTAAAACTTTTTTTTTTTTTTTTTT (n.3912-10_3912-9insTAAAACTTTTTTTTTTTTTTTTTT)
c.3798-10_3798-9insTAAAACTTTTTTTTTTTTTTTTTT (n.3798-10_3798-9insTAAAACTTTTTTTTTTTTTTTTTT)
c.3189-10_3189-9insTAAAACTTTTTTTTTTTTTTTTTT (n.3189-10_3189-9insTAAAACTTTTTTTTTTTTTTTTTT)
gnomAD v2 gnomAD v4
2g.47806769_47806770insTTAAAACTTTTTTTTTTTTTTTTTTCA2658969514FBXO11,MSH6c.3705-10_3705-9insTTAAAACTTTTTTTTTTTTTTTTTT (n.3705-10_3705-9insTTAAAACTTTTTTTTTTTTTTTTTT)
c.3618-10_3618-9insTTAAAACTTTTTTTTTTTTTTTTTT (n.3618-10_3618-9insTTAAAACTTTTTTTTTTTTTTTTTT)
n.4676-10_4676-9insTTAAAACTTTTTTTTTTTTTTTTTT
c.2436-10_2436-9insTTAAAACTTTTTTTTTTTTTTTTTT (n.2436-10_2436-9insTTAAAACTTTTTTTTTTTTTTTTTT)
c.4008-10_4008-9insTTAAAACTTTTTTTTTTTTTTTTTT (n.4008-10_4008-9insTTAAAACTTTTTTTTTTTTTTTTTT)
c.1457-10_1457-9insTTAAAACTTTTTTTTTTTTTTTTTT (n.1457-10_1457-9insTTAAAACTTTTTTTTTTTTTTTTTT)
c.2775-10_2775-9insTTAAAACTTTTTTTTTTTTTTTTTT (n.2775-10_2775-9insTTAAAACTTTTTTTTTTTTTTTTTT)
n.2970_2971insTTAAAACTTTTTTTTTTTTTTTTTT
n.2597-10_2597-9insTTAAAACTTTTTTTTTTTTTTTTTT
n.2264-10_2264-9insTTAAAACTTTTTTTTTTTTTTTTTT
n.2666-10_2666-9insTTAAAACTTTTTTTTTTTTTTTTTT
n.1411-10_1411-9insTTAAAACTTTTTTTTTTTTTTTTTT
n.3296-10_3296-9insTTAAAACTTTTTTTTTTTTTTTTTT
n.4001_4002insAAAAAAAAAAAAAAAAAAAAGTTTT
n.4263_4264insAAAAAAAAAAAAAAAAAAAAGTTTT
c.4002-10_4002-9insTTAAAACTTTTTTTTTTTTTTTTTT (n.4002-10_4002-9insTTAAAACTTTTTTTTTTTTTTTTTT)
c.3612-10_3612-9insTTAAAACTTTTTTTTTTTTTTTTTT (n.3612-10_3612-9insTTAAAACTTTTTTTTTTTTTTTTTT)
c.169+1448_169+1449insAAAAAAAAAAAAAAAAAAAAGTTTT (n.169+1448_169+1449insAAAAAAAAAAAAAAAAAAAAGTTTT)
c.*124+1247_*124+1248insAAAAAAAAAAAAAAAAAAAAGTTTT (n.*124+1247_*124+1248insAAAAAAAAAAAAAAAAAAAAGTTTT)
c.*3349-10_*3349-9insTTAAAACTTTTTTTTTTTTTTTTTT (n.*3349-10_*3349-9insTTAAAACTTTTTTTTTTTTTTTTTT)
c.3096-10_3096-9insTTAAAACTTTTTTTTTTTTTTTTTT (n.3096-10_3096-9insTTAAAACTTTTTTTTTTTTTTTTTT)
c.903-10_903-9insTTAAAACTTTTTTTTTTTTTTTTTT (n.903-10_903-9insTTAAAACTTTTTTTTTTTTTTTTTT)
c.3819-10_3819-9insTTAAAACTTTTTTTTTTTTTTTTTT (n.3819-10_3819-9insTTAAAACTTTTTTTTTTTTTTTTTT)
c.4095-10_4095-9insTTAAAACTTTTTTTTTTTTTTTTTT (n.4095-10_4095-9insTTAAAACTTTTTTTTTTTTTTTTTT)
c.3912-10_3912-9insTTAAAACTTTTTTTTTTTTTTTTTT (n.3912-10_3912-9insTTAAAACTTTTTTTTTTTTTTTTTT)
c.3798-10_3798-9insTTAAAACTTTTTTTTTTTTTTTTTT (n.3798-10_3798-9insTTAAAACTTTTTTTTTTTTTTTTTT)
c.3189-10_3189-9insTTAAAACTTTTTTTTTTTTTTTTTT (n.3189-10_3189-9insTTAAAACTTTTTTTTTTTTTTTTTT)
gnomAD v4
2g.47806749_47806771dupCA1649498FBXO11,MSH6c.3705-30_3705-8dup (n.3705-30_3705-8dup)
c.3618-30_3618-8dup (n.3618-30_3618-8dup)
n.4676-30_4676-8dup
c.2436-30_2436-8dup (n.2436-30_2436-8dup)
c.4008-30_4008-8dup (n.4008-30_4008-8dup)
c.1457-30_1457-8dup (n.1457-30_1457-8dup)
c.2775-30_2775-8dup (n.2775-30_2775-8dup)
n.2950_2972dup
n.2597-30_2597-8dup
n.2264-30_2264-8dup
n.2666-30_2666-8dup
n.1411-30_1411-8dup
n.3296-30_3296-8dup
n.3979_4001dup
n.4241_4263dup
c.4002-30_4002-8dup (n.4002-30_4002-8dup)
c.3612-30_3612-8dup (n.3612-30_3612-8dup)
c.169+1426_169+1448dup (n.169+1426_169+1448dup)
c.*124+1225_*124+1247dup (n.*124+1225_*124+1247dup)
c.*3349-30_*3349-8dup (n.*3349-30_*3349-8dup)
c.3096-30_3096-8dup (n.3096-30_3096-8dup)
c.903-30_903-8dup (n.903-30_903-8dup)
c.3819-30_3819-8dup (n.3819-30_3819-8dup)
c.4095-30_4095-8dup (n.4095-30_4095-8dup)
c.3912-30_3912-8dup (n.3912-30_3912-8dup)
c.3798-30_3798-8dup (n.3798-30_3798-8dup)
c.3189-30_3189-8dup (n.3189-30_3189-8dup)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.47806769_47806770insTAAACTTTTTTTTTTTTTTTTTTCA1030297466FBXO11,MSH6c.3705-10_3705-9insTAAACTTTTTTTTTTTTTTTTTT (n.3705-10_3705-9insTAAACTTTTTTTTTTTTTTTTTT)
c.3618-10_3618-9insTAAACTTTTTTTTTTTTTTTTTT (n.3618-10_3618-9insTAAACTTTTTTTTTTTTTTTTTT)
n.4676-10_4676-9insTAAACTTTTTTTTTTTTTTTTTT
c.2436-10_2436-9insTAAACTTTTTTTTTTTTTTTTTT (n.2436-10_2436-9insTAAACTTTTTTTTTTTTTTTTTT)
c.4008-10_4008-9insTAAACTTTTTTTTTTTTTTTTTT (n.4008-10_4008-9insTAAACTTTTTTTTTTTTTTTTTT)
c.1457-10_1457-9insTAAACTTTTTTTTTTTTTTTTTT (n.1457-10_1457-9insTAAACTTTTTTTTTTTTTTTTTT)
c.2775-10_2775-9insTAAACTTTTTTTTTTTTTTTTTT (n.2775-10_2775-9insTAAACTTTTTTTTTTTTTTTTTT)
n.2970_2971insTAAACTTTTTTTTTTTTTTTTTT
n.2597-10_2597-9insTAAACTTTTTTTTTTTTTTTTTT
n.2264-10_2264-9insTAAACTTTTTTTTTTTTTTTTTT
n.2666-10_2666-9insTAAACTTTTTTTTTTTTTTTTTT
n.1411-10_1411-9insTAAACTTTTTTTTTTTTTTTTTT
n.3296-10_3296-9insTAAACTTTTTTTTTTTTTTTTTT
n.4000_4001insAAAAAAAAAAAAAAAAAAAGTTT
n.4262_4263insAAAAAAAAAAAAAAAAAAAGTTT
c.4002-10_4002-9insTAAACTTTTTTTTTTTTTTTTTT (n.4002-10_4002-9insTAAACTTTTTTTTTTTTTTTTTT)
c.3612-10_3612-9insTAAACTTTTTTTTTTTTTTTTTT (n.3612-10_3612-9insTAAACTTTTTTTTTTTTTTTTTT)
c.169+1447_169+1448insAAAAAAAAAAAAAAAAAAAGTTT (n.169+1447_169+1448insAAAAAAAAAAAAAAAAAAAGTTT)
c.*124+1246_*124+1247insAAAAAAAAAAAAAAAAAAAGTTT (n.*124+1246_*124+1247insAAAAAAAAAAAAAAAAAAAGTTT)
c.*3349-10_*3349-9insTAAACTTTTTTTTTTTTTTTTTT (n.*3349-10_*3349-9insTAAACTTTTTTTTTTTTTTTTTT)
c.3096-10_3096-9insTAAACTTTTTTTTTTTTTTTTTT (n.3096-10_3096-9insTAAACTTTTTTTTTTTTTTTTTT)
c.903-10_903-9insTAAACTTTTTTTTTTTTTTTTTT (n.903-10_903-9insTAAACTTTTTTTTTTTTTTTTTT)
c.3819-10_3819-9insTAAACTTTTTTTTTTTTTTTTTT (n.3819-10_3819-9insTAAACTTTTTTTTTTTTTTTTTT)
c.4095-10_4095-9insTAAACTTTTTTTTTTTTTTTTTT (n.4095-10_4095-9insTAAACTTTTTTTTTTTTTTTTTT)
c.3912-10_3912-9insTAAACTTTTTTTTTTTTTTTTTT (n.3912-10_3912-9insTAAACTTTTTTTTTTTTTTTTTT)
c.3798-10_3798-9insTAAACTTTTTTTTTTTTTTTTTT (n.3798-10_3798-9insTAAACTTTTTTTTTTTTTTTTTT)
c.3189-10_3189-9insTAAACTTTTTTTTTTTTTTTTTT (n.3189-10_3189-9insTAAACTTTTTTTTTTTTTTTTTT)
dbSNP gnomAD v3 gnomAD v4
2g.47806748_47806771delinsTTAAAAAAAAAAAAAAAAAAGTTTCA357262FBXO11,MSH6c.3705-31_3705-8delinsTTAAAAAAAAAAAAAAAAAAGTTT (n.3705-31_3705-8delinsTTAAAAAAAAAAAAAAAAAAGTTT)
c.3618-31_3618-8delinsTTAAAAAAAAAAAAAAAAAAGTTT (n.3618-31_3618-8delinsTTAAAAAAAAAAAAAAAAAAGTTT)
n.4676-31_4676-8delinsTTAAAAAAAAAAAAAAAAAAGTTT
c.2436-31_2436-8delinsTTAAAAAAAAAAAAAAAAAAGTTT (n.2436-31_2436-8delinsTTAAAAAAAAAAAAAAAAAAGTTT)
c.4008-31_4008-8delinsTTAAAAAAAAAAAAAAAAAAGTTT (n.4008-31_4008-8delinsTTAAAAAAAAAAAAAAAAAAGTTT)
c.1457-31_1457-8delinsTTAAAAAAAAAAAAAAAAAAGTTT (n.1457-31_1457-8delinsTTAAAAAAAAAAAAAAAAAAGTTT)
c.2775-31_2775-8delinsTTAAAAAAAAAAAAAAAAAAGTTT (n.2775-31_2775-8delinsTTAAAAAAAAAAAAAAAAAAGTTT)
n.2949_2972delinsTTAAAAAAAAAAAAAAAAAAGTTT
n.2597-31_2597-8delinsTTAAAAAAAAAAAAAAAAAAGTTT
n.2264-31_2264-8delinsTTAAAAAAAAAAAAAAAAAAGTTT
n.2666-31_2666-8delinsTTAAAAAAAAAAAAAAAAAAGTTT
n.1411-31_1411-8delinsTTAAAAAAAAAAAAAAAAAAGTTT
n.3296-31_3296-8delinsTTAAAAAAAAAAAAAAAAAAGTTT
n.3977_4000delinsAAACTTTTTTTTTTTTTTTTTTAA
n.4239_4262delinsAAACTTTTTTTTTTTTTTTTTTAA
c.4002-31_4002-8delinsTTAAAAAAAAAAAAAAAAAAGTTT (n.4002-31_4002-8delinsTTAAAAAAAAAAAAAAAAAAGTTT)
c.3612-31_3612-8delinsTTAAAAAAAAAAAAAAAAAAGTTT (n.3612-31_3612-8delinsTTAAAAAAAAAAAAAAAAAAGTTT)
c.169+1424_169+1447delinsAAACTTTTTTTTTTTTTTTTTTAA (n.169+1424_169+1447delinsAAACTTTTTTTTTTTTTTTTTTAA)
c.*124+1223_*124+1246delinsAAACTTTTTTTTTTTTTTTTTTAA (n.*124+1223_*124+1246delinsAAACTTTTTTTTTTTTTTTTTTAA)
c.*3349-31_*3349-8delinsTTAAAAAAAAAAAAAAAAAAGTTT (n.*3349-31_*3349-8delinsTTAAAAAAAAAAAAAAAAAAGTTT)
c.3096-31_3096-8delinsTTAAAAAAAAAAAAAAAAAAGTTT (n.3096-31_3096-8delinsTTAAAAAAAAAAAAAAAAAAGTTT)
c.903-31_903-8delinsTTAAAAAAAAAAAAAAAAAAGTTT (n.903-31_903-8delinsTTAAAAAAAAAAAAAAAAAAGTTT)
c.3819-31_3819-8delinsTTAAAAAAAAAAAAAAAAAAGTTT (n.3819-31_3819-8delinsTTAAAAAAAAAAAAAAAAAAGTTT)
c.4095-31_4095-8delinsTTAAAAAAAAAAAAAAAAAAGTTT (n.4095-31_4095-8delinsTTAAAAAAAAAAAAAAAAAAGTTT)
c.3912-31_3912-8delinsTTAAAAAAAAAAAAAAAAAAGTTT (n.3912-31_3912-8delinsTTAAAAAAAAAAAAAAAAAAGTTT)
c.3798-31_3798-8delinsTTAAAAAAAAAAAAAAAAAAGTTT (n.3798-31_3798-8delinsTTAAAAAAAAAAAAAAAAAAGTTT)
c.3189-31_3189-8delinsTTAAAAAAAAAAAAAAAAAAGTTT (n.3189-31_3189-8delinsTTAAAAAAAAAAAAAAAAAAGTTT)
ClinVar dbSNP
2g.47806748_47806771delinsAAACTTTTTTTTTTTTTTTTTTAACA2496054473FBXO11,MSH6c.3705-31_3705-8delinsAAACTTTTTTTTTTTTTTTTTTAA (n.3705-31_3705-8delinsAAACTTTTTTTTTTTTTTTTTTAA)
c.3618-31_3618-8delinsAAACTTTTTTTTTTTTTTTTTTAA (n.3618-31_3618-8delinsAAACTTTTTTTTTTTTTTTTTTAA)
n.4676-31_4676-8delinsAAACTTTTTTTTTTTTTTTTTTAA
c.2436-31_2436-8delinsAAACTTTTTTTTTTTTTTTTTTAA (n.2436-31_2436-8delinsAAACTTTTTTTTTTTTTTTTTTAA)
c.4008-31_4008-8delinsAAACTTTTTTTTTTTTTTTTTTAA (n.4008-31_4008-8delinsAAACTTTTTTTTTTTTTTTTTTAA)
c.1457-31_1457-8delinsAAACTTTTTTTTTTTTTTTTTTAA (n.1457-31_1457-8delinsAAACTTTTTTTTTTTTTTTTTTAA)
c.2775-31_2775-8delinsAAACTTTTTTTTTTTTTTTTTTAA (n.2775-31_2775-8delinsAAACTTTTTTTTTTTTTTTTTTAA)
n.2949_2972delinsAAACTTTTTTTTTTTTTTTTTTAA
n.2597-31_2597-8delinsAAACTTTTTTTTTTTTTTTTTTAA
n.2264-31_2264-8delinsAAACTTTTTTTTTTTTTTTTTTAA
n.2666-31_2666-8delinsAAACTTTTTTTTTTTTTTTTTTAA
n.1411-31_1411-8delinsAAACTTTTTTTTTTTTTTTTTTAA
n.3296-31_3296-8delinsAAACTTTTTTTTTTTTTTTTTTAA
n.3977_4000delinsTTAAAAAAAAAAAAAAAAAAGTTT
n.4239_4262delinsTTAAAAAAAAAAAAAAAAAAGTTT
c.4002-31_4002-8delinsAAACTTTTTTTTTTTTTTTTTTAA (n.4002-31_4002-8delinsAAACTTTTTTTTTTTTTTTTTTAA)
c.3612-31_3612-8delinsAAACTTTTTTTTTTTTTTTTTTAA (n.3612-31_3612-8delinsAAACTTTTTTTTTTTTTTTTTTAA)
c.169+1424_169+1447delinsTTAAAAAAAAAAAAAAAAAAGTTT (n.169+1424_169+1447delinsTTAAAAAAAAAAAAAAAAAAGTTT)
c.*124+1223_*124+1246delinsTTAAAAAAAAAAAAAAAAAAGTTT (n.*124+1223_*124+1246delinsTTAAAAAAAAAAAAAAAAAAGTTT)
c.*3349-31_*3349-8delinsAAACTTTTTTTTTTTTTTTTTTAA (n.*3349-31_*3349-8delinsAAACTTTTTTTTTTTTTTTTTTAA)
c.3096-31_3096-8delinsAAACTTTTTTTTTTTTTTTTTTAA (n.3096-31_3096-8delinsAAACTTTTTTTTTTTTTTTTTTAA)
c.903-31_903-8delinsAAACTTTTTTTTTTTTTTTTTTAA (n.903-31_903-8delinsAAACTTTTTTTTTTTTTTTTTTAA)
c.3819-31_3819-8delinsAAACTTTTTTTTTTTTTTTTTTAA (n.3819-31_3819-8delinsAAACTTTTTTTTTTTTTTTTTTAA)
c.4095-31_4095-8delinsAAACTTTTTTTTTTTTTTTTTTAA (n.4095-31_4095-8delinsAAACTTTTTTTTTTTTTTTTTTAA)
c.3912-31_3912-8delinsAAACTTTTTTTTTTTTTTTTTTAA (n.3912-31_3912-8delinsAAACTTTTTTTTTTTTTTTTTTAA)
c.3798-31_3798-8delinsAAACTTTTTTTTTTTTTTTTTTAA (n.3798-31_3798-8delinsAAACTTTTTTTTTTTTTTTTTTAA)
c.3189-31_3189-8delinsAAACTTTTTTTTTTTTTTTTTTAA (n.3189-31_3189-8delinsAAACTTTTTTTTTTTTTTTTTTAA)
2g.47806750_47806759delCA2658969611FBXO11,MSH6c.3705-29_3705-20del (n.3705-29_3705-20del)
c.3618-29_3618-20del (n.3618-29_3618-20del)
n.4676-29_4676-20del
c.2436-29_2436-20del (n.2436-29_2436-20del)
c.4008-29_4008-20del (n.4008-29_4008-20del)
c.1457-29_1457-20del (n.1457-29_1457-20del)
c.2775-29_2775-20del (n.2775-29_2775-20del)
n.2951_2960del
n.2597-29_2597-20del
n.2264-29_2264-20del
n.2666-29_2666-20del
n.1411-29_1411-20del
n.3296-29_3296-20del
n.3989_3998del
n.4251_4260del
c.4002-29_4002-20del (n.4002-29_4002-20del)
c.3612-29_3612-20del (n.3612-29_3612-20del)
c.169+1436_169+1445del (n.169+1436_169+1445del)
c.*124+1235_*124+1244del (n.*124+1235_*124+1244del)
c.*3349-29_*3349-20del (n.*3349-29_*3349-20del)
c.3096-29_3096-20del (n.3096-29_3096-20del)
c.903-29_903-20del (n.903-29_903-20del)
c.3819-29_3819-20del (n.3819-29_3819-20del)
c.4095-29_4095-20del (n.4095-29_4095-20del)
c.3912-29_3912-20del (n.3912-29_3912-20del)
c.3798-29_3798-20del (n.3798-29_3798-20del)
c.3189-29_3189-20del (n.3189-29_3189-20del)
gnomAD v4
2g.47806751_47806764delinsCTTTTTTTTTTTTTCA2496054484FBXO11,MSH6c.3705-28_3705-15delinsCTTTTTTTTTTTTT (n.3705-28_3705-15delinsCTTTTTTTTTTTTT)
c.3618-28_3618-15delinsCTTTTTTTTTTTTT (n.3618-28_3618-15delinsCTTTTTTTTTTTTT)
n.4676-28_4676-15delinsCTTTTTTTTTTTTT
c.2436-28_2436-15delinsCTTTTTTTTTTTTT (n.2436-28_2436-15delinsCTTTTTTTTTTTTT)
c.4008-28_4008-15delinsCTTTTTTTTTTTTT (n.4008-28_4008-15delinsCTTTTTTTTTTTTT)
c.1457-28_1457-15delinsCTTTTTTTTTTTTT (n.1457-28_1457-15delinsCTTTTTTTTTTTTT)
c.2775-28_2775-15delinsCTTTTTTTTTTTTT (n.2775-28_2775-15delinsCTTTTTTTTTTTTT)
n.2952_2965delinsCTTTTTTTTTTTTT
n.2597-28_2597-15delinsCTTTTTTTTTTTTT
n.2264-28_2264-15delinsCTTTTTTTTTTTTT
n.2666-28_2666-15delinsCTTTTTTTTTTTTT
n.1411-28_1411-15delinsCTTTTTTTTTTTTT
n.3296-28_3296-15delinsCTTTTTTTTTTTTT
n.3984_3997delinsAAAAAAAAAAAAAG
n.4246_4259delinsAAAAAAAAAAAAAG
c.4002-28_4002-15delinsCTTTTTTTTTTTTT (n.4002-28_4002-15delinsCTTTTTTTTTTTTT)
c.3612-28_3612-15delinsCTTTTTTTTTTTTT (n.3612-28_3612-15delinsCTTTTTTTTTTTTT)
c.169+1431_169+1444delinsAAAAAAAAAAAAAG (n.169+1431_169+1444delinsAAAAAAAAAAAAAG)
c.*124+1230_*124+1243delinsAAAAAAAAAAAAAG (n.*124+1230_*124+1243delinsAAAAAAAAAAAAAG)
c.*3349-28_*3349-15delinsCTTTTTTTTTTTTT (n.*3349-28_*3349-15delinsCTTTTTTTTTTTTT)
c.3096-28_3096-15delinsCTTTTTTTTTTTTT (n.3096-28_3096-15delinsCTTTTTTTTTTTTT)
c.903-28_903-15delinsCTTTTTTTTTTTTT (n.903-28_903-15delinsCTTTTTTTTTTTTT)
c.3819-28_3819-15delinsCTTTTTTTTTTTTT (n.3819-28_3819-15delinsCTTTTTTTTTTTTT)
c.4095-28_4095-15delinsCTTTTTTTTTTTTT (n.4095-28_4095-15delinsCTTTTTTTTTTTTT)
c.3912-28_3912-15delinsCTTTTTTTTTTTTT (n.3912-28_3912-15delinsCTTTTTTTTTTTTT)
c.3798-28_3798-15delinsCTTTTTTTTTTTTT (n.3798-28_3798-15delinsCTTTTTTTTTTTTT)
c.3189-28_3189-15delinsCTTTTTTTTTTTTT (n.3189-28_3189-15delinsCTTTTTTTTTTTTT)
2g.47806767_47806768insAAAAATTTTTTTTTTTTTTTTTTTCA2658969803FBXO11,MSH6c.3705-12_3705-11insAAAAATTTTTTTTTTTTTTTTTTT (n.3705-12_3705-11insAAAAATTTTTTTTTTTTTTTTTTT)
c.3618-12_3618-11insAAAAATTTTTTTTTTTTTTTTTTT (n.3618-12_3618-11insAAAAATTTTTTTTTTTTTTTTTTT)
n.4676-12_4676-11insAAAAATTTTTTTTTTTTTTTTTTT
c.2436-12_2436-11insAAAAATTTTTTTTTTTTTTTTTTT (n.2436-12_2436-11insAAAAATTTTTTTTTTTTTTTTTTT)
c.4008-12_4008-11insAAAAATTTTTTTTTTTTTTTTTTT (n.4008-12_4008-11insAAAAATTTTTTTTTTTTTTTTTTT)
c.1457-12_1457-11insAAAAATTTTTTTTTTTTTTTTTTT (n.1457-12_1457-11insAAAAATTTTTTTTTTTTTTTTTTT)
c.2775-12_2775-11insAAAAATTTTTTTTTTTTTTTTTTT (n.2775-12_2775-11insAAAAATTTTTTTTTTTTTTTTTTT)
n.2968_2969insAAAAATTTTTTTTTTTTTTTTTTT
n.2597-12_2597-11insAAAAATTTTTTTTTTTTTTTTTTT
n.2264-12_2264-11insAAAAATTTTTTTTTTTTTTTTTTT
n.2666-12_2666-11insAAAAATTTTTTTTTTTTTTTTTTT
n.1411-12_1411-11insAAAAATTTTTTTTTTTTTTTTTTT
n.3296-12_3296-11insAAAAATTTTTTTTTTTTTTTTTTT
n.3996_3997insAAATTTTTAAAAAAAAAAAAAAAA
n.4258_4259insAAATTTTTAAAAAAAAAAAAAAAA
c.4002-12_4002-11insAAAAATTTTTTTTTTTTTTTTTTT (n.4002-12_4002-11insAAAAATTTTTTTTTTTTTTTTTTT)
c.3612-12_3612-11insAAAAATTTTTTTTTTTTTTTTTTT (n.3612-12_3612-11insAAAAATTTTTTTTTTTTTTTTTTT)
c.169+1443_169+1444insAAATTTTTAAAAAAAAAAAAAAAA (n.169+1443_169+1444insAAATTTTTAAAAAAAAAAAAAAAA)
c.*124+1242_*124+1243insAAATTTTTAAAAAAAAAAAAAAAA (n.*124+1242_*124+1243insAAATTTTTAAAAAAAAAAAAAAAA)
c.*3349-12_*3349-11insAAAAATTTTTTTTTTTTTTTTTTT (n.*3349-12_*3349-11insAAAAATTTTTTTTTTTTTTTTTTT)
c.3096-12_3096-11insAAAAATTTTTTTTTTTTTTTTTTT (n.3096-12_3096-11insAAAAATTTTTTTTTTTTTTTTTTT)
c.903-12_903-11insAAAAATTTTTTTTTTTTTTTTTTT (n.903-12_903-11insAAAAATTTTTTTTTTTTTTTTTTT)
c.3819-12_3819-11insAAAAATTTTTTTTTTTTTTTTTTT (n.3819-12_3819-11insAAAAATTTTTTTTTTTTTTTTTTT)
c.4095-12_4095-11insAAAAATTTTTTTTTTTTTTTTTTT (n.4095-12_4095-11insAAAAATTTTTTTTTTTTTTTTTTT)
c.3912-12_3912-11insAAAAATTTTTTTTTTTTTTTTTTT (n.3912-12_3912-11insAAAAATTTTTTTTTTTTTTTTTTT)
c.3798-12_3798-11insAAAAATTTTTTTTTTTTTTTTTTT (n.3798-12_3798-11insAAAAATTTTTTTTTTTTTTTTTTT)
c.3189-12_3189-11insAAAAATTTTTTTTTTTTTTTTTTT (n.3189-12_3189-11insAAAAATTTTTTTTTTTTTTTTTTT)
gnomAD v4
2g.47806768_47806769insAAAACTTTTTTTTTTTTTTTTTTCA2658969885FBXO11,MSH6c.3705-11_3705-10insAAAACTTTTTTTTTTTTTTTTTT (n.3705-11_3705-10insAAAACTTTTTTTTTTTTTTTTTT)
c.3618-11_3618-10insAAAACTTTTTTTTTTTTTTTTTT (n.3618-11_3618-10insAAAACTTTTTTTTTTTTTTTTTT)
n.4676-11_4676-10insAAAACTTTTTTTTTTTTTTTTTT
c.2436-11_2436-10insAAAACTTTTTTTTTTTTTTTTTT (n.2436-11_2436-10insAAAACTTTTTTTTTTTTTTTTTT)
c.4008-11_4008-10insAAAACTTTTTTTTTTTTTTTTTT (n.4008-11_4008-10insAAAACTTTTTTTTTTTTTTTTTT)
c.1457-11_1457-10insAAAACTTTTTTTTTTTTTTTTTT (n.1457-11_1457-10insAAAACTTTTTTTTTTTTTTTTTT)
c.2775-11_2775-10insAAAACTTTTTTTTTTTTTTTTTT (n.2775-11_2775-10insAAAACTTTTTTTTTTTTTTTTTT)
n.2969_2970insAAAACTTTTTTTTTTTTTTTTTT
n.2597-11_2597-10insAAAACTTTTTTTTTTTTTTTTTT
n.2264-11_2264-10insAAAACTTTTTTTTTTTTTTTTTT
n.2666-11_2666-10insAAAACTTTTTTTTTTTTTTTTTT
n.1411-11_1411-10insAAAACTTTTTTTTTTTTTTTTTT
n.3296-11_3296-10insAAAACTTTTTTTTTTTTTTTTTT
n.3996_3997insAGTTTTAAAAAAAAAAAAAAAAA
n.4258_4259insAGTTTTAAAAAAAAAAAAAAAAA
c.4002-11_4002-10insAAAACTTTTTTTTTTTTTTTTTT (n.4002-11_4002-10insAAAACTTTTTTTTTTTTTTTTTT)
c.3612-11_3612-10insAAAACTTTTTTTTTTTTTTTTTT (n.3612-11_3612-10insAAAACTTTTTTTTTTTTTTTTTT)
c.169+1443_169+1444insAGTTTTAAAAAAAAAAAAAAAAA (n.169+1443_169+1444insAGTTTTAAAAAAAAAAAAAAAAA)
c.*124+1242_*124+1243insAGTTTTAAAAAAAAAAAAAAAAA (n.*124+1242_*124+1243insAGTTTTAAAAAAAAAAAAAAAAA)
c.*3349-11_*3349-10insAAAACTTTTTTTTTTTTTTTTTT (n.*3349-11_*3349-10insAAAACTTTTTTTTTTTTTTTTTT)
c.3096-11_3096-10insAAAACTTTTTTTTTTTTTTTTTT (n.3096-11_3096-10insAAAACTTTTTTTTTTTTTTTTTT)
c.903-11_903-10insAAAACTTTTTTTTTTTTTTTTTT (n.903-11_903-10insAAAACTTTTTTTTTTTTTTTTTT)
c.3819-11_3819-10insAAAACTTTTTTTTTTTTTTTTTT (n.3819-11_3819-10insAAAACTTTTTTTTTTTTTTTTTT)
c.4095-11_4095-10insAAAACTTTTTTTTTTTTTTTTTT (n.4095-11_4095-10insAAAACTTTTTTTTTTTTTTTTTT)
c.3912-11_3912-10insAAAACTTTTTTTTTTTTTTTTTT (n.3912-11_3912-10insAAAACTTTTTTTTTTTTTTTTTT)
c.3798-11_3798-10insAAAACTTTTTTTTTTTTTTTTTT (n.3798-11_3798-10insAAAACTTTTTTTTTTTTTTTTTT)
c.3189-11_3189-10insAAAACTTTTTTTTTTTTTTTTTT (n.3189-11_3189-10insAAAACTTTTTTTTTTTTTTTTTT)
gnomAD v4
2g.47806769_47806770insTAAAAATTTTTTTTTTTTTTTTTTCA2658969765FBXO11,MSH6c.3705-10_3705-9insTAAAAATTTTTTTTTTTTTTTTTT (n.3705-10_3705-9insTAAAAATTTTTTTTTTTTTTTTTT)
c.3618-10_3618-9insTAAAAATTTTTTTTTTTTTTTTTT (n.3618-10_3618-9insTAAAAATTTTTTTTTTTTTTTTTT)
n.4676-10_4676-9insTAAAAATTTTTTTTTTTTTTTTTT
c.2436-10_2436-9insTAAAAATTTTTTTTTTTTTTTTTT (n.2436-10_2436-9insTAAAAATTTTTTTTTTTTTTTTTT)
c.4008-10_4008-9insTAAAAATTTTTTTTTTTTTTTTTT (n.4008-10_4008-9insTAAAAATTTTTTTTTTTTTTTTTT)
c.1457-10_1457-9insTAAAAATTTTTTTTTTTTTTTTTT (n.1457-10_1457-9insTAAAAATTTTTTTTTTTTTTTTTT)
c.2775-10_2775-9insTAAAAATTTTTTTTTTTTTTTTTT (n.2775-10_2775-9insTAAAAATTTTTTTTTTTTTTTTTT)
n.2970_2971insTAAAAATTTTTTTTTTTTTTTTTT
n.2597-10_2597-9insTAAAAATTTTTTTTTTTTTTTTTT
n.2264-10_2264-9insTAAAAATTTTTTTTTTTTTTTTTT
n.2666-10_2666-9insTAAAAATTTTTTTTTTTTTTTTTT
n.1411-10_1411-9insTAAAAATTTTTTTTTTTTTTTTTT
n.3296-10_3296-9insTAAAAATTTTTTTTTTTTTTTTTT
n.3996_3997insTTTTTAAAAAAAAAAAAAAAAAAA
n.4258_4259insTTTTTAAAAAAAAAAAAAAAAAAA
c.4002-10_4002-9insTAAAAATTTTTTTTTTTTTTTTTT (n.4002-10_4002-9insTAAAAATTTTTTTTTTTTTTTTTT)
c.3612-10_3612-9insTAAAAATTTTTTTTTTTTTTTTTT (n.3612-10_3612-9insTAAAAATTTTTTTTTTTTTTTTTT)
c.169+1443_169+1444insTTTTTAAAAAAAAAAAAAAAAAAA (n.169+1443_169+1444insTTTTTAAAAAAAAAAAAAAAAAAA)
c.*124+1242_*124+1243insTTTTTAAAAAAAAAAAAAAAAAAA (n.*124+1242_*124+1243insTTTTTAAAAAAAAAAAAAAAAAAA)
c.*3349-10_*3349-9insTAAAAATTTTTTTTTTTTTTTTTT (n.*3349-10_*3349-9insTAAAAATTTTTTTTTTTTTTTTTT)
c.3096-10_3096-9insTAAAAATTTTTTTTTTTTTTTTTT (n.3096-10_3096-9insTAAAAATTTTTTTTTTTTTTTTTT)
c.903-10_903-9insTAAAAATTTTTTTTTTTTTTTTTT (n.903-10_903-9insTAAAAATTTTTTTTTTTTTTTTTT)
c.3819-10_3819-9insTAAAAATTTTTTTTTTTTTTTTTT (n.3819-10_3819-9insTAAAAATTTTTTTTTTTTTTTTTT)
c.4095-10_4095-9insTAAAAATTTTTTTTTTTTTTTTTT (n.4095-10_4095-9insTAAAAATTTTTTTTTTTTTTTTTT)
c.3912-10_3912-9insTAAAAATTTTTTTTTTTTTTTTTT (n.3912-10_3912-9insTAAAAATTTTTTTTTTTTTTTTTT)
c.3798-10_3798-9insTAAAAATTTTTTTTTTTTTTTTTT (n.3798-10_3798-9insTAAAAATTTTTTTTTTTTTTTTTT)
c.3189-10_3189-9insTAAAAATTTTTTTTTTTTTTTTTT (n.3189-10_3189-9insTAAAAATTTTTTTTTTTTTTTTTT)
gnomAD v4
2g.47806769_47806770insTAAAACTTTTTTTTTTTTTTTTTTTCA2658969764FBXO11,MSH6c.3705-10_3705-9insTAAAACTTTTTTTTTTTTTTTTTTT (n.3705-10_3705-9insTAAAACTTTTTTTTTTTTTTTTTTT)
c.3618-10_3618-9insTAAAACTTTTTTTTTTTTTTTTTTT (n.3618-10_3618-9insTAAAACTTTTTTTTTTTTTTTTTTT)
n.4676-10_4676-9insTAAAACTTTTTTTTTTTTTTTTTTT
c.2436-10_2436-9insTAAAACTTTTTTTTTTTTTTTTTTT (n.2436-10_2436-9insTAAAACTTTTTTTTTTTTTTTTTTT)
c.4008-10_4008-9insTAAAACTTTTTTTTTTTTTTTTTTT (n.4008-10_4008-9insTAAAACTTTTTTTTTTTTTTTTTTT)
c.1457-10_1457-9insTAAAACTTTTTTTTTTTTTTTTTTT (n.1457-10_1457-9insTAAAACTTTTTTTTTTTTTTTTTTT)
c.2775-10_2775-9insTAAAACTTTTTTTTTTTTTTTTTTT (n.2775-10_2775-9insTAAAACTTTTTTTTTTTTTTTTTTT)
n.2970_2971insTAAAACTTTTTTTTTTTTTTTTTTT
n.2597-10_2597-9insTAAAACTTTTTTTTTTTTTTTTTTT
n.2264-10_2264-9insTAAAACTTTTTTTTTTTTTTTTTTT
n.2666-10_2666-9insTAAAACTTTTTTTTTTTTTTTTTTT
n.1411-10_1411-9insTAAAACTTTTTTTTTTTTTTTTTTT
n.3296-10_3296-9insTAAAACTTTTTTTTTTTTTTTTTTT
n.3996_3997insAGTTTTAAAAAAAAAAAAAAAAAAA
n.4258_4259insAGTTTTAAAAAAAAAAAAAAAAAAA
c.4002-10_4002-9insTAAAACTTTTTTTTTTTTTTTTTTT (n.4002-10_4002-9insTAAAACTTTTTTTTTTTTTTTTTTT)
c.3612-10_3612-9insTAAAACTTTTTTTTTTTTTTTTTTT (n.3612-10_3612-9insTAAAACTTTTTTTTTTTTTTTTTTT)
c.169+1443_169+1444insAGTTTTAAAAAAAAAAAAAAAAAAA (n.169+1443_169+1444insAGTTTTAAAAAAAAAAAAAAAAAAA)
c.*124+1242_*124+1243insAGTTTTAAAAAAAAAAAAAAAAAAA (n.*124+1242_*124+1243insAGTTTTAAAAAAAAAAAAAAAAAAA)
c.*3349-10_*3349-9insTAAAACTTTTTTTTTTTTTTTTTTT (n.*3349-10_*3349-9insTAAAACTTTTTTTTTTTTTTTTTTT)
c.3096-10_3096-9insTAAAACTTTTTTTTTTTTTTTTTTT (n.3096-10_3096-9insTAAAACTTTTTTTTTTTTTTTTTTT)
c.903-10_903-9insTAAAACTTTTTTTTTTTTTTTTTTT (n.903-10_903-9insTAAAACTTTTTTTTTTTTTTTTTTT)
c.3819-10_3819-9insTAAAACTTTTTTTTTTTTTTTTTTT (n.3819-10_3819-9insTAAAACTTTTTTTTTTTTTTTTTTT)
c.4095-10_4095-9insTAAAACTTTTTTTTTTTTTTTTTTT (n.4095-10_4095-9insTAAAACTTTTTTTTTTTTTTTTTTT)
c.3912-10_3912-9insTAAAACTTTTTTTTTTTTTTTTTTT (n.3912-10_3912-9insTAAAACTTTTTTTTTTTTTTTTTTT)
c.3798-10_3798-9insTAAAACTTTTTTTTTTTTTTTTTTT (n.3798-10_3798-9insTAAAACTTTTTTTTTTTTTTTTTTT)
c.3189-10_3189-9insTAAAACTTTTTTTTTTTTTTTTTTT (n.3189-10_3189-9insTAAAACTTTTTTTTTTTTTTTTTTT)
gnomAD v4
2g.47806769_47806770insTTAAAACTTTTTTTTTTTTTTTTTTTCA2658969763FBXO11,MSH6c.3705-10_3705-9insTTAAAACTTTTTTTTTTTTTTTTTTT (n.3705-10_3705-9insTTAAAACTTTTTTTTTTTTTTTTTTT)
c.3618-10_3618-9insTTAAAACTTTTTTTTTTTTTTTTTTT (n.3618-10_3618-9insTTAAAACTTTTTTTTTTTTTTTTTTT)
n.4676-10_4676-9insTTAAAACTTTTTTTTTTTTTTTTTTT
c.2436-10_2436-9insTTAAAACTTTTTTTTTTTTTTTTTTT (n.2436-10_2436-9insTTAAAACTTTTTTTTTTTTTTTTTTT)
c.4008-10_4008-9insTTAAAACTTTTTTTTTTTTTTTTTTT (n.4008-10_4008-9insTTAAAACTTTTTTTTTTTTTTTTTTT)
c.1457-10_1457-9insTTAAAACTTTTTTTTTTTTTTTTTTT (n.1457-10_1457-9insTTAAAACTTTTTTTTTTTTTTTTTTT)
c.2775-10_2775-9insTTAAAACTTTTTTTTTTTTTTTTTTT (n.2775-10_2775-9insTTAAAACTTTTTTTTTTTTTTTTTTT)
n.2970_2971insTTAAAACTTTTTTTTTTTTTTTTTTT
n.2597-10_2597-9insTTAAAACTTTTTTTTTTTTTTTTTTT
n.2264-10_2264-9insTTAAAACTTTTTTTTTTTTTTTTTTT
n.2666-10_2666-9insTTAAAACTTTTTTTTTTTTTTTTTTT
n.1411-10_1411-9insTTAAAACTTTTTTTTTTTTTTTTTTT
n.3296-10_3296-9insTTAAAACTTTTTTTTTTTTTTTTTTT
n.3996_3997insAGTTTTAAAAAAAAAAAAAAAAAAAA
n.4258_4259insAGTTTTAAAAAAAAAAAAAAAAAAAA
c.4002-10_4002-9insTTAAAACTTTTTTTTTTTTTTTTTTT (n.4002-10_4002-9insTTAAAACTTTTTTTTTTTTTTTTTTT)
c.3612-10_3612-9insTTAAAACTTTTTTTTTTTTTTTTTTT (n.3612-10_3612-9insTTAAAACTTTTTTTTTTTTTTTTTTT)
c.169+1443_169+1444insAGTTTTAAAAAAAAAAAAAAAAAAAA (n.169+1443_169+1444insAGTTTTAAAAAAAAAAAAAAAAAAAA)
c.*124+1242_*124+1243insAGTTTTAAAAAAAAAAAAAAAAAAAA (n.*124+1242_*124+1243insAGTTTTAAAAAAAAAAAAAAAAAAAA)
c.*3349-10_*3349-9insTTAAAACTTTTTTTTTTTTTTTTTTT (n.*3349-10_*3349-9insTTAAAACTTTTTTTTTTTTTTTTTTT)
c.3096-10_3096-9insTTAAAACTTTTTTTTTTTTTTTTTTT (n.3096-10_3096-9insTTAAAACTTTTTTTTTTTTTTTTTTT)
c.903-10_903-9insTTAAAACTTTTTTTTTTTTTTTTTTT (n.903-10_903-9insTTAAAACTTTTTTTTTTTTTTTTTTT)
c.3819-10_3819-9insTTAAAACTTTTTTTTTTTTTTTTTTT (n.3819-10_3819-9insTTAAAACTTTTTTTTTTTTTTTTTTT)
c.4095-10_4095-9insTTAAAACTTTTTTTTTTTTTTTTTTT (n.4095-10_4095-9insTTAAAACTTTTTTTTTTTTTTTTTTT)
c.3912-10_3912-9insTTAAAACTTTTTTTTTTTTTTTTTTT (n.3912-10_3912-9insTTAAAACTTTTTTTTTTTTTTTTTTT)
c.3798-10_3798-9insTTAAAACTTTTTTTTTTTTTTTTTTT (n.3798-10_3798-9insTTAAAACTTTTTTTTTTTTTTTTTTT)
c.3189-10_3189-9insTTAAAACTTTTTTTTTTTTTTTTTTT (n.3189-10_3189-9insTTAAAACTTTTTTTTTTTTTTTTTTT)
gnomAD v4
2g.47806769dupCA1649503FBXO11,MSH6c.3705-10dup (n.3705-10dup)
c.3618-10dup (n.3618-10dup)
n.4676-10dup
c.2436-10dup (n.2436-10dup)
c.4008-10dup (n.4008-10dup)
c.1457-10dup (n.1457-10dup)
c.2775-10dup (n.2775-10dup)
n.2970dup
n.2597-10dup
n.2264-10dup
n.2666-10dup
n.1411-10dup
n.3296-10dup
n.3996dup
n.4258dup
c.4002-10dup (n.4002-10dup)
c.3612-10dup (n.3612-10dup)
c.169+1443dup (n.169+1443dup)
c.*124+1242dup (n.*124+1242dup)
c.*3349-10dup (n.*3349-10dup)
c.3096-10dup (n.3096-10dup)
c.903-10dup (n.903-10dup)
c.3819-10dup (n.3819-10dup)
c.4095-10dup (n.4095-10dup)
c.3912-10dup (n.3912-10dup)
c.3798-10dup (n.3798-10dup)
c.3189-10dup (n.3189-10dup)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.47806768_47806769dupCA330589FBXO11,MSH6c.3705-11_3705-10dup (n.3705-11_3705-10dup)
c.3618-11_3618-10dup (n.3618-11_3618-10dup)
n.4676-11_4676-10dup
c.2436-11_2436-10dup (n.2436-11_2436-10dup)
c.4008-11_4008-10dup (n.4008-11_4008-10dup)
c.1457-11_1457-10dup (n.1457-11_1457-10dup)
c.2775-11_2775-10dup (n.2775-11_2775-10dup)
n.2969_2970dup
n.2597-11_2597-10dup
n.2264-11_2264-10dup
n.2666-11_2666-10dup
n.1411-11_1411-10dup
n.3296-11_3296-10dup
n.3995_3996dup
n.4257_4258dup
c.4002-11_4002-10dup (n.4002-11_4002-10dup)
c.3612-11_3612-10dup (n.3612-11_3612-10dup)
c.169+1442_169+1443dup (n.169+1442_169+1443dup)
c.*124+1241_*124+1242dup (n.*124+1241_*124+1242dup)
c.*3349-11_*3349-10dup (n.*3349-11_*3349-10dup)
c.3096-11_3096-10dup (n.3096-11_3096-10dup)
c.903-11_903-10dup (n.903-11_903-10dup)
c.3819-11_3819-10dup (n.3819-11_3819-10dup)
c.4095-11_4095-10dup (n.4095-11_4095-10dup)
c.3912-11_3912-10dup (n.3912-11_3912-10dup)
c.3798-11_3798-10dup (n.3798-11_3798-10dup)
c.3189-11_3189-10dup (n.3189-11_3189-10dup)
ClinVar dbSNP ExAC gnomAD v3 gnomAD v4
2g.47806767_47806769dupCA330590FBXO11,MSH6c.3705-12_3705-10dup (n.3705-12_3705-10dup)
c.3618-12_3618-10dup (n.3618-12_3618-10dup)
n.4676-12_4676-10dup
c.2436-12_2436-10dup (n.2436-12_2436-10dup)
c.4008-12_4008-10dup (n.4008-12_4008-10dup)
c.1457-12_1457-10dup (n.1457-12_1457-10dup)
c.2775-12_2775-10dup (n.2775-12_2775-10dup)
n.2968_2970dup
n.2597-12_2597-10dup
n.2264-12_2264-10dup
n.2666-12_2666-10dup
n.1411-12_1411-10dup
n.3296-12_3296-10dup
n.3994_3996dup
n.4256_4258dup
c.4002-12_4002-10dup (n.4002-12_4002-10dup)
c.3612-12_3612-10dup (n.3612-12_3612-10dup)
c.169+1441_169+1443dup (n.169+1441_169+1443dup)
c.*124+1240_*124+1242dup (n.*124+1240_*124+1242dup)
c.*3349-12_*3349-10dup (n.*3349-12_*3349-10dup)
c.3096-12_3096-10dup (n.3096-12_3096-10dup)
c.903-12_903-10dup (n.903-12_903-10dup)
c.3819-12_3819-10dup (n.3819-12_3819-10dup)
c.4095-12_4095-10dup (n.4095-12_4095-10dup)
c.3912-12_3912-10dup (n.3912-12_3912-10dup)
c.3798-12_3798-10dup (n.3798-12_3798-10dup)
c.3189-12_3189-10dup (n.3189-12_3189-10dup)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.47806766_47806769dupCA330591FBXO11,MSH6c.3705-13_3705-10dup (n.3705-13_3705-10dup)
c.3618-13_3618-10dup (n.3618-13_3618-10dup)
n.4676-13_4676-10dup
c.2436-13_2436-10dup (n.2436-13_2436-10dup)
c.4008-13_4008-10dup (n.4008-13_4008-10dup)
c.1457-13_1457-10dup (n.1457-13_1457-10dup)
c.2775-13_2775-10dup (n.2775-13_2775-10dup)
n.2967_2970dup
n.2597-13_2597-10dup
n.2264-13_2264-10dup
n.2666-13_2666-10dup
n.1411-13_1411-10dup
n.3296-13_3296-10dup
n.3993_3996dup
n.4255_4258dup
c.4002-13_4002-10dup (n.4002-13_4002-10dup)
c.3612-13_3612-10dup (n.3612-13_3612-10dup)
c.169+1440_169+1443dup (n.169+1440_169+1443dup)
c.*124+1239_*124+1242dup (n.*124+1239_*124+1242dup)
c.*3349-13_*3349-10dup (n.*3349-13_*3349-10dup)
c.3096-13_3096-10dup (n.3096-13_3096-10dup)
c.903-13_903-10dup (n.903-13_903-10dup)
c.3819-13_3819-10dup (n.3819-13_3819-10dup)
c.4095-13_4095-10dup (n.4095-13_4095-10dup)
c.3912-13_3912-10dup (n.3912-13_3912-10dup)
c.3798-13_3798-10dup (n.3798-13_3798-10dup)
c.3189-13_3189-10dup (n.3189-13_3189-10dup)
ClinVar dbSNP gnomAD v3 gnomAD v4
2g.47806765_47806769dupCA769468503FBXO11,MSH6c.3705-14_3705-10dup (n.3705-14_3705-10dup)
c.3618-14_3618-10dup (n.3618-14_3618-10dup)
n.4676-14_4676-10dup
c.2436-14_2436-10dup (n.2436-14_2436-10dup)
c.4008-14_4008-10dup (n.4008-14_4008-10dup)
c.1457-14_1457-10dup (n.1457-14_1457-10dup)
c.2775-14_2775-10dup (n.2775-14_2775-10dup)
n.2966_2970dup
n.2597-14_2597-10dup
n.2264-14_2264-10dup
n.2666-14_2666-10dup
n.1411-14_1411-10dup
n.3296-14_3296-10dup
n.3992_3996dup
n.4254_4258dup
c.4002-14_4002-10dup (n.4002-14_4002-10dup)
c.3612-14_3612-10dup (n.3612-14_3612-10dup)
c.169+1439_169+1443dup (n.169+1439_169+1443dup)
c.*124+1238_*124+1242dup (n.*124+1238_*124+1242dup)
c.*3349-14_*3349-10dup (n.*3349-14_*3349-10dup)
c.3096-14_3096-10dup (n.3096-14_3096-10dup)
c.903-14_903-10dup (n.903-14_903-10dup)
c.3819-14_3819-10dup (n.3819-14_3819-10dup)
c.4095-14_4095-10dup (n.4095-14_4095-10dup)
c.3912-14_3912-10dup (n.3912-14_3912-10dup)
c.3798-14_3798-10dup (n.3798-14_3798-10dup)
c.3189-14_3189-10dup (n.3189-14_3189-10dup)
dbSNP gnomAD v3 gnomAD v4
2g.47806764_47806769dupCA769468500FBXO11,MSH6c.3705-15_3705-10dup (n.3705-15_3705-10dup)
c.3618-15_3618-10dup (n.3618-15_3618-10dup)
n.4676-15_4676-10dup
c.2436-15_2436-10dup (n.2436-15_2436-10dup)
c.4008-15_4008-10dup (n.4008-15_4008-10dup)
c.1457-15_1457-10dup (n.1457-15_1457-10dup)
c.2775-15_2775-10dup (n.2775-15_2775-10dup)
n.2965_2970dup
n.2597-15_2597-10dup
n.2264-15_2264-10dup
n.2666-15_2666-10dup
n.1411-15_1411-10dup
n.3296-15_3296-10dup
n.3991_3996dup
n.4253_4258dup
c.4002-15_4002-10dup (n.4002-15_4002-10dup)
c.3612-15_3612-10dup (n.3612-15_3612-10dup)
c.169+1438_169+1443dup (n.169+1438_169+1443dup)
c.*124+1237_*124+1242dup (n.*124+1237_*124+1242dup)
c.*3349-15_*3349-10dup (n.*3349-15_*3349-10dup)
c.3096-15_3096-10dup (n.3096-15_3096-10dup)
c.903-15_903-10dup (n.903-15_903-10dup)
c.3819-15_3819-10dup (n.3819-15_3819-10dup)
c.4095-15_4095-10dup (n.4095-15_4095-10dup)
c.3912-15_3912-10dup (n.3912-15_3912-10dup)
c.3798-15_3798-10dup (n.3798-15_3798-10dup)
c.3189-15_3189-10dup (n.3189-15_3189-10dup)
dbSNP gnomAD v3 gnomAD v4
2g.47806763_47806769dupCA1030297604FBXO11,MSH6c.3705-16_3705-10dup (n.3705-16_3705-10dup)
c.3618-16_3618-10dup (n.3618-16_3618-10dup)
n.4676-16_4676-10dup
c.2436-16_2436-10dup (n.2436-16_2436-10dup)
c.4008-16_4008-10dup (n.4008-16_4008-10dup)
c.1457-16_1457-10dup (n.1457-16_1457-10dup)
c.2775-16_2775-10dup (n.2775-16_2775-10dup)
n.2964_2970dup
n.2597-16_2597-10dup
n.2264-16_2264-10dup
n.2666-16_2666-10dup
n.1411-16_1411-10dup
n.3296-16_3296-10dup
n.3990_3996dup
n.4252_4258dup
c.4002-16_4002-10dup (n.4002-16_4002-10dup)
c.3612-16_3612-10dup (n.3612-16_3612-10dup)
c.169+1437_169+1443dup (n.169+1437_169+1443dup)
c.*124+1236_*124+1242dup (n.*124+1236_*124+1242dup)
c.*3349-16_*3349-10dup (n.*3349-16_*3349-10dup)
c.3096-16_3096-10dup (n.3096-16_3096-10dup)
c.903-16_903-10dup (n.903-16_903-10dup)
c.3819-16_3819-10dup (n.3819-16_3819-10dup)
c.4095-16_4095-10dup (n.4095-16_4095-10dup)
c.3912-16_3912-10dup (n.3912-16_3912-10dup)
c.3798-16_3798-10dup (n.3798-16_3798-10dup)
c.3189-16_3189-10dup (n.3189-16_3189-10dup)
dbSNP gnomAD v3 gnomAD v4
2g.47806762_47806769dupCA916529825FBXO11,MSH6c.3705-17_3705-10dup (n.3705-17_3705-10dup)
c.3618-17_3618-10dup (n.3618-17_3618-10dup)
n.4676-17_4676-10dup
c.2436-17_2436-10dup (n.2436-17_2436-10dup)
c.4008-17_4008-10dup (n.4008-17_4008-10dup)
c.1457-17_1457-10dup (n.1457-17_1457-10dup)
c.2775-17_2775-10dup (n.2775-17_2775-10dup)
n.2963_2970dup
n.2597-17_2597-10dup
n.2264-17_2264-10dup
n.2666-17_2666-10dup
n.1411-17_1411-10dup
n.3296-17_3296-10dup
n.3989_3996dup
n.4251_4258dup
c.4002-17_4002-10dup (n.4002-17_4002-10dup)
c.3612-17_3612-10dup (n.3612-17_3612-10dup)
c.169+1436_169+1443dup (n.169+1436_169+1443dup)
c.*124+1235_*124+1242dup (n.*124+1235_*124+1242dup)
c.*3349-17_*3349-10dup (n.*3349-17_*3349-10dup)
c.3096-17_3096-10dup (n.3096-17_3096-10dup)
c.903-17_903-10dup (n.903-17_903-10dup)
c.3819-17_3819-10dup (n.3819-17_3819-10dup)
c.4095-17_4095-10dup (n.4095-17_4095-10dup)
c.3912-17_3912-10dup (n.3912-17_3912-10dup)
c.3798-17_3798-10dup (n.3798-17_3798-10dup)
c.3189-17_3189-10dup (n.3189-17_3189-10dup)
dbSNP gnomAD v3 gnomAD v4
2g.47806761_47806769dupCA2658969880FBXO11,MSH6c.3705-18_3705-10dup (n.3705-18_3705-10dup)
c.3618-18_3618-10dup (n.3618-18_3618-10dup)
n.4676-18_4676-10dup
c.2436-18_2436-10dup (n.2436-18_2436-10dup)
c.4008-18_4008-10dup (n.4008-18_4008-10dup)
c.1457-18_1457-10dup (n.1457-18_1457-10dup)
c.2775-18_2775-10dup (n.2775-18_2775-10dup)
n.2962_2970dup
n.2597-18_2597-10dup
n.2264-18_2264-10dup
n.2666-18_2666-10dup
n.1411-18_1411-10dup
n.3296-18_3296-10dup
n.3988_3996dup
n.4250_4258dup
c.4002-18_4002-10dup (n.4002-18_4002-10dup)
c.3612-18_3612-10dup (n.3612-18_3612-10dup)
c.169+1435_169+1443dup (n.169+1435_169+1443dup)
c.*124+1234_*124+1242dup (n.*124+1234_*124+1242dup)
c.*3349-18_*3349-10dup (n.*3349-18_*3349-10dup)
c.3096-18_3096-10dup (n.3096-18_3096-10dup)
c.903-18_903-10dup (n.903-18_903-10dup)
c.3819-18_3819-10dup (n.3819-18_3819-10dup)
c.4095-18_4095-10dup (n.4095-18_4095-10dup)
c.3912-18_3912-10dup (n.3912-18_3912-10dup)
c.3798-18_3798-10dup (n.3798-18_3798-10dup)
c.3189-18_3189-10dup (n.3189-18_3189-10dup)
gnomAD v4
2g.47806760_47806769dupCA2658969873FBXO11,MSH6c.3705-19_3705-10dup (n.3705-19_3705-10dup)
c.3618-19_3618-10dup (n.3618-19_3618-10dup)
n.4676-19_4676-10dup
c.2436-19_2436-10dup (n.2436-19_2436-10dup)
c.4008-19_4008-10dup (n.4008-19_4008-10dup)
c.1457-19_1457-10dup (n.1457-19_1457-10dup)
c.2775-19_2775-10dup (n.2775-19_2775-10dup)
n.2961_2970dup
n.2597-19_2597-10dup
n.2264-19_2264-10dup
n.2666-19_2666-10dup
n.1411-19_1411-10dup
n.3296-19_3296-10dup
n.3987_3996dup
n.4249_4258dup
c.4002-19_4002-10dup (n.4002-19_4002-10dup)
c.3612-19_3612-10dup (n.3612-19_3612-10dup)
c.169+1434_169+1443dup (n.169+1434_169+1443dup)
c.*124+1233_*124+1242dup (n.*124+1233_*124+1242dup)
c.*3349-19_*3349-10dup (n.*3349-19_*3349-10dup)
c.3096-19_3096-10dup (n.3096-19_3096-10dup)
c.903-19_903-10dup (n.903-19_903-10dup)
c.3819-19_3819-10dup (n.3819-19_3819-10dup)
c.4095-19_4095-10dup (n.4095-19_4095-10dup)
c.3912-19_3912-10dup (n.3912-19_3912-10dup)
c.3798-19_3798-10dup (n.3798-19_3798-10dup)
c.3189-19_3189-10dup (n.3189-19_3189-10dup)
gnomAD v4
2g.47806759_47806769dupCA2749812318FBXO11,MSH6c.3705-20_3705-10dup (n.3705-20_3705-10dup)
c.3618-20_3618-10dup (n.3618-20_3618-10dup)
n.4676-20_4676-10dup
c.2436-20_2436-10dup (n.2436-20_2436-10dup)
c.4008-20_4008-10dup (n.4008-20_4008-10dup)
c.1457-20_1457-10dup (n.1457-20_1457-10dup)
c.2775-20_2775-10dup (n.2775-20_2775-10dup)
n.2960_2970dup
n.2597-20_2597-10dup
n.2264-20_2264-10dup
n.2666-20_2666-10dup
n.1411-20_1411-10dup
n.3296-20_3296-10dup
n.3986_3996dup
n.4248_4258dup
c.4002-20_4002-10dup (n.4002-20_4002-10dup)
c.3612-20_3612-10dup (n.3612-20_3612-10dup)
c.169+1433_169+1443dup (n.169+1433_169+1443dup)
c.*124+1232_*124+1242dup (n.*124+1232_*124+1242dup)
c.*3349-20_*3349-10dup (n.*3349-20_*3349-10dup)
c.3096-20_3096-10dup (n.3096-20_3096-10dup)
c.903-20_903-10dup (n.903-20_903-10dup)
c.3819-20_3819-10dup (n.3819-20_3819-10dup)
c.4095-20_4095-10dup (n.4095-20_4095-10dup)
c.3912-20_3912-10dup (n.3912-20_3912-10dup)
c.3798-20_3798-10dup (n.3798-20_3798-10dup)
c.3189-20_3189-10dup (n.3189-20_3189-10dup)
2g.47806758_47806769dupCA2658969870FBXO11,MSH6c.3705-21_3705-10dup (n.3705-21_3705-10dup)
c.3618-21_3618-10dup (n.3618-21_3618-10dup)
n.4676-21_4676-10dup
c.2436-21_2436-10dup (n.2436-21_2436-10dup)
c.4008-21_4008-10dup (n.4008-21_4008-10dup)
c.1457-21_1457-10dup (n.1457-21_1457-10dup)
c.2775-21_2775-10dup (n.2775-21_2775-10dup)
n.2959_2970dup
n.2597-21_2597-10dup
n.2264-21_2264-10dup
n.2666-21_2666-10dup
n.1411-21_1411-10dup
n.3296-21_3296-10dup
n.3985_3996dup
n.4247_4258dup
c.4002-21_4002-10dup (n.4002-21_4002-10dup)
c.3612-21_3612-10dup (n.3612-21_3612-10dup)
c.169+1432_169+1443dup (n.169+1432_169+1443dup)
c.*124+1231_*124+1242dup (n.*124+1231_*124+1242dup)
c.*3349-21_*3349-10dup (n.*3349-21_*3349-10dup)
c.3096-21_3096-10dup (n.3096-21_3096-10dup)
c.903-21_903-10dup (n.903-21_903-10dup)
c.3819-21_3819-10dup (n.3819-21_3819-10dup)
c.4095-21_4095-10dup (n.4095-21_4095-10dup)
c.3912-21_3912-10dup (n.3912-21_3912-10dup)
c.3798-21_3798-10dup (n.3798-21_3798-10dup)
c.3189-21_3189-10dup (n.3189-21_3189-10dup)
gnomAD v4
2g.47806757_47806769dupCA1030297603FBXO11,MSH6c.3705-22_3705-10dup (n.3705-22_3705-10dup)
c.3618-22_3618-10dup (n.3618-22_3618-10dup)
n.4676-22_4676-10dup
c.2436-22_2436-10dup (n.2436-22_2436-10dup)
c.4008-22_4008-10dup (n.4008-22_4008-10dup)
c.1457-22_1457-10dup (n.1457-22_1457-10dup)
c.2775-22_2775-10dup (n.2775-22_2775-10dup)
n.2958_2970dup
n.2597-22_2597-10dup
n.2264-22_2264-10dup
n.2666-22_2666-10dup
n.1411-22_1411-10dup
n.3296-22_3296-10dup
n.3984_3996dup
n.4246_4258dup
c.4002-22_4002-10dup (n.4002-22_4002-10dup)
c.3612-22_3612-10dup (n.3612-22_3612-10dup)
c.169+1431_169+1443dup (n.169+1431_169+1443dup)
c.*124+1230_*124+1242dup (n.*124+1230_*124+1242dup)
c.*3349-22_*3349-10dup (n.*3349-22_*3349-10dup)
c.3096-22_3096-10dup (n.3096-22_3096-10dup)
c.903-22_903-10dup (n.903-22_903-10dup)
c.3819-22_3819-10dup (n.3819-22_3819-10dup)
c.4095-22_4095-10dup (n.4095-22_4095-10dup)
c.3912-22_3912-10dup (n.3912-22_3912-10dup)
c.3798-22_3798-10dup (n.3798-22_3798-10dup)
c.3189-22_3189-10dup (n.3189-22_3189-10dup)
gnomAD v4
2g.47806756_47806769dupCA2658969864FBXO11,MSH6c.3705-23_3705-10dup (n.3705-23_3705-10dup)
c.3618-23_3618-10dup (n.3618-23_3618-10dup)
n.4676-23_4676-10dup
c.2436-23_2436-10dup (n.2436-23_2436-10dup)
c.4008-23_4008-10dup (n.4008-23_4008-10dup)
c.1457-23_1457-10dup (n.1457-23_1457-10dup)
c.2775-23_2775-10dup (n.2775-23_2775-10dup)
n.2957_2970dup
n.2597-23_2597-10dup
n.2264-23_2264-10dup
n.2666-23_2666-10dup
n.1411-23_1411-10dup
n.3296-23_3296-10dup
n.3983_3996dup
n.4245_4258dup
c.4002-23_4002-10dup (n.4002-23_4002-10dup)
c.3612-23_3612-10dup (n.3612-23_3612-10dup)
c.169+1430_169+1443dup (n.169+1430_169+1443dup)
c.*124+1229_*124+1242dup (n.*124+1229_*124+1242dup)
c.*3349-23_*3349-10dup (n.*3349-23_*3349-10dup)
c.3096-23_3096-10dup (n.3096-23_3096-10dup)
c.903-23_903-10dup (n.903-23_903-10dup)
c.3819-23_3819-10dup (n.3819-23_3819-10dup)
c.4095-23_4095-10dup (n.4095-23_4095-10dup)
c.3912-23_3912-10dup (n.3912-23_3912-10dup)
c.3798-23_3798-10dup (n.3798-23_3798-10dup)
c.3189-23_3189-10dup (n.3189-23_3189-10dup)
gnomAD v4
2g.47806755_47806769dupCA1030297568FBXO11,MSH6c.3705-24_3705-10dup (n.3705-24_3705-10dup)
c.3618-24_3618-10dup (n.3618-24_3618-10dup)
n.4676-24_4676-10dup
c.2436-24_2436-10dup (n.2436-24_2436-10dup)
c.4008-24_4008-10dup (n.4008-24_4008-10dup)
c.1457-24_1457-10dup (n.1457-24_1457-10dup)
c.2775-24_2775-10dup (n.2775-24_2775-10dup)
n.2956_2970dup
n.2597-24_2597-10dup
n.2264-24_2264-10dup
n.2666-24_2666-10dup
n.1411-24_1411-10dup
n.3296-24_3296-10dup
n.3982_3996dup
n.4244_4258dup
c.4002-24_4002-10dup (n.4002-24_4002-10dup)
c.3612-24_3612-10dup (n.3612-24_3612-10dup)
c.169+1429_169+1443dup (n.169+1429_169+1443dup)
c.*124+1228_*124+1242dup (n.*124+1228_*124+1242dup)
c.*3349-24_*3349-10dup (n.*3349-24_*3349-10dup)
c.3096-24_3096-10dup (n.3096-24_3096-10dup)
c.903-24_903-10dup (n.903-24_903-10dup)
c.3819-24_3819-10dup (n.3819-24_3819-10dup)
c.4095-24_4095-10dup (n.4095-24_4095-10dup)
c.3912-24_3912-10dup (n.3912-24_3912-10dup)
c.3798-24_3798-10dup (n.3798-24_3798-10dup)
c.3189-24_3189-10dup (n.3189-24_3189-10dup)
dbSNP gnomAD v3 gnomAD v4
2g.47806769delCA015219FBXO11,MSH6c.3705-10del (n.3705-10del)
c.3618-10del (n.3618-10del)
n.4676-10del
c.2436-10del (n.2436-10del)
c.4008-10del (n.4008-10del)
c.1457-10del (n.1457-10del)
c.2775-10del (n.2775-10del)
n.2970del
n.2597-10del
n.2264-10del
n.2666-10del
n.1411-10del
n.3296-10del
n.3996del
n.4258del
c.4002-10del (n.4002-10del)
c.3612-10del (n.3612-10del)
c.169+1443del (n.169+1443del)
c.*124+1242del (n.*124+1242del)
c.*3349-10del (n.*3349-10del)
n.3158del
c.3096-10del (n.3096-10del)
c.903-10del (n.903-10del)
c.3819-10del (n.3819-10del)
c.4095-10del (n.4095-10del)
c.3912-10del (n.3912-10del)
c.3798-10del (n.3798-10del)
c.3189-10del (n.3189-10del)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.47806768_47806769delCA330588FBXO11,MSH6c.3705-11_3705-10del (n.3705-11_3705-10del)
c.3618-11_3618-10del (n.3618-11_3618-10del)
n.4676-11_4676-10del
c.2436-11_2436-10del (n.2436-11_2436-10del)
c.4008-11_4008-10del (n.4008-11_4008-10del)
c.1457-11_1457-10del (n.1457-11_1457-10del)
c.2775-11_2775-10del (n.2775-11_2775-10del)
n.2969_2970del
n.2597-11_2597-10del
n.2264-11_2264-10del
n.2666-11_2666-10del
n.1411-11_1411-10del
n.3296-11_3296-10del
n.3995_3996del
n.4257_4258del
c.4002-11_4002-10del (n.4002-11_4002-10del)
c.3612-11_3612-10del (n.3612-11_3612-10del)
c.169+1442_169+1443del (n.169+1442_169+1443del)
c.*124+1241_*124+1242del (n.*124+1241_*124+1242del)
c.*3349-11_*3349-10del (n.*3349-11_*3349-10del)
n.3157_3158del
c.3096-11_3096-10del (n.3096-11_3096-10del)
c.903-11_903-10del (n.903-11_903-10del)
c.3819-11_3819-10del (n.3819-11_3819-10del)
c.4095-11_4095-10del (n.4095-11_4095-10del)
c.3912-11_3912-10del (n.3912-11_3912-10del)
c.3798-11_3798-10del (n.3798-11_3798-10del)
c.3189-11_3189-10del (n.3189-11_3189-10del)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.47806767_47806769delCA1649504FBXO11,MSH6c.3705-12_3705-10del (n.3705-12_3705-10del)
c.3618-12_3618-10del (n.3618-12_3618-10del)
n.4676-12_4676-10del
c.2436-12_2436-10del (n.2436-12_2436-10del)
c.4008-12_4008-10del (n.4008-12_4008-10del)
c.1457-12_1457-10del (n.1457-12_1457-10del)
c.2775-12_2775-10del (n.2775-12_2775-10del)
n.2968_2970del
n.2597-12_2597-10del
n.2264-12_2264-10del
n.2666-12_2666-10del
n.1411-12_1411-10del
n.3296-12_3296-10del
n.3994_3996del
n.4256_4258del
c.4002-12_4002-10del (n.4002-12_4002-10del)
c.3612-12_3612-10del (n.3612-12_3612-10del)
c.169+1441_169+1443del (n.169+1441_169+1443del)
c.*124+1240_*124+1242del (n.*124+1240_*124+1242del)
c.*3349-12_*3349-10del (n.*3349-12_*3349-10del)
n.3156_3158del
c.3096-12_3096-10del (n.3096-12_3096-10del)
c.903-12_903-10del (n.903-12_903-10del)
c.3819-12_3819-10del (n.3819-12_3819-10del)
c.4095-12_4095-10del (n.4095-12_4095-10del)
c.3912-12_3912-10del (n.3912-12_3912-10del)
c.3798-12_3798-10del (n.3798-12_3798-10del)
c.3189-12_3189-10del (n.3189-12_3189-10del)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.47806766_47806769delCA072652FBXO11,MSH6c.3705-13_3705-10del (n.3705-13_3705-10del)
c.3618-13_3618-10del (n.3618-13_3618-10del)
n.4676-13_4676-10del
c.2436-13_2436-10del (n.2436-13_2436-10del)
c.4008-13_4008-10del (n.4008-13_4008-10del)
c.1457-13_1457-10del (n.1457-13_1457-10del)
c.2775-13_2775-10del (n.2775-13_2775-10del)
n.2967_2970del
n.2597-13_2597-10del
n.2264-13_2264-10del
n.2666-13_2666-10del
n.1411-13_1411-10del
n.3296-13_3296-10del
n.3993_3996del
n.4255_4258del
c.4002-13_4002-10del (n.4002-13_4002-10del)
c.3612-13_3612-10del (n.3612-13_3612-10del)
c.169+1440_169+1443del (n.169+1440_169+1443del)
c.*124+1239_*124+1242del (n.*124+1239_*124+1242del)
c.*3349-13_*3349-10del (n.*3349-13_*3349-10del)
n.3155_3158del
c.3096-13_3096-10del (n.3096-13_3096-10del)
c.903-13_903-10del (n.903-13_903-10del)
c.3819-13_3819-10del (n.3819-13_3819-10del)
c.4095-13_4095-10del (n.4095-13_4095-10del)
c.3912-13_3912-10del (n.3912-13_3912-10del)
c.3798-13_3798-10del (n.3798-13_3798-10del)
c.3189-13_3189-10del (n.3189-13_3189-10del)
ClinVar dbSNP ExAC gnomAD v3 gnomAD v4
2g.47806765_47806769delCA769468459FBXO11,MSH6c.3705-14_3705-10del (n.3705-14_3705-10del)
c.3618-14_3618-10del (n.3618-14_3618-10del)
n.4676-14_4676-10del
c.2436-14_2436-10del (n.2436-14_2436-10del)
c.4008-14_4008-10del (n.4008-14_4008-10del)
c.1457-14_1457-10del (n.1457-14_1457-10del)
c.2775-14_2775-10del (n.2775-14_2775-10del)
n.2966_2970del
n.2597-14_2597-10del
n.2264-14_2264-10del
n.2666-14_2666-10del
n.1411-14_1411-10del
n.3296-14_3296-10del
n.3992_3996del
n.4254_4258del
c.4002-14_4002-10del (n.4002-14_4002-10del)
c.3612-14_3612-10del (n.3612-14_3612-10del)
c.169+1439_169+1443del (n.169+1439_169+1443del)
c.*124+1238_*124+1242del (n.*124+1238_*124+1242del)
c.*3349-14_*3349-10del (n.*3349-14_*3349-10del)
n.3154_3158del
c.3096-14_3096-10del (n.3096-14_3096-10del)
c.903-14_903-10del (n.903-14_903-10del)
c.3819-14_3819-10del (n.3819-14_3819-10del)
c.4095-14_4095-10del (n.4095-14_4095-10del)
c.3912-14_3912-10del (n.3912-14_3912-10del)
c.3798-14_3798-10del (n.3798-14_3798-10del)
c.3189-14_3189-10del (n.3189-14_3189-10del)
ClinVar dbSNP gnomAD v3 gnomAD v4
2g.47806764_47806769delCA46720263FBXO11,MSH6c.3705-15_3705-10del (n.3705-15_3705-10del)
c.3618-15_3618-10del (n.3618-15_3618-10del)
n.4676-15_4676-10del
c.2436-15_2436-10del (n.2436-15_2436-10del)
c.4008-15_4008-10del (n.4008-15_4008-10del)
c.1457-15_1457-10del (n.1457-15_1457-10del)
c.2775-15_2775-10del (n.2775-15_2775-10del)
n.2965_2970del
n.2597-15_2597-10del
n.2264-15_2264-10del
n.2666-15_2666-10del
n.1411-15_1411-10del
n.3296-15_3296-10del
n.3991_3996del
n.4253_4258del
c.4002-15_4002-10del (n.4002-15_4002-10del)
c.3612-15_3612-10del (n.3612-15_3612-10del)
c.169+1438_169+1443del (n.169+1438_169+1443del)
c.*124+1237_*124+1242del (n.*124+1237_*124+1242del)
c.*3349-15_*3349-10del (n.*3349-15_*3349-10del)
n.3153_3158del
c.3096-15_3096-10del (n.3096-15_3096-10del)
c.903-15_903-10del (n.903-15_903-10del)
c.3819-15_3819-10del (n.3819-15_3819-10del)
c.4095-15_4095-10del (n.4095-15_4095-10del)
c.3912-15_3912-10del (n.3912-15_3912-10del)
c.3798-15_3798-10del (n.3798-15_3798-10del)
c.3189-15_3189-10del (n.3189-15_3189-10del)
ClinVar dbSNP gnomAD v3 gnomAD v4
2g.47806763_47806769delCA769468493FBXO11,MSH6c.3705-16_3705-10del (n.3705-16_3705-10del)
c.3618-16_3618-10del (n.3618-16_3618-10del)
n.4676-16_4676-10del
c.2436-16_2436-10del (n.2436-16_2436-10del)
c.4008-16_4008-10del (n.4008-16_4008-10del)
c.1457-16_1457-10del (n.1457-16_1457-10del)
c.2775-16_2775-10del (n.2775-16_2775-10del)
n.2964_2970del
n.2597-16_2597-10del
n.2264-16_2264-10del
n.2666-16_2666-10del
n.1411-16_1411-10del
n.3296-16_3296-10del
n.3990_3996del
n.4252_4258del
c.4002-16_4002-10del (n.4002-16_4002-10del)
c.3612-16_3612-10del (n.3612-16_3612-10del)
c.169+1437_169+1443del (n.169+1437_169+1443del)
c.*124+1236_*124+1242del (n.*124+1236_*124+1242del)
c.*3349-16_*3349-10del (n.*3349-16_*3349-10del)
n.3152_3158del
c.3096-16_3096-10del (n.3096-16_3096-10del)
c.903-16_903-10del (n.903-16_903-10del)
c.3819-16_3819-10del (n.3819-16_3819-10del)
c.4095-16_4095-10del (n.4095-16_4095-10del)
c.3912-16_3912-10del (n.3912-16_3912-10del)
c.3798-16_3798-10del (n.3798-16_3798-10del)
c.3189-16_3189-10del (n.3189-16_3189-10del)
dbSNP gnomAD v3 gnomAD v4
2g.47806762_47806769delCA769468475FBXO11,MSH6c.3705-17_3705-10del (n.3705-17_3705-10del)
c.3618-17_3618-10del (n.3618-17_3618-10del)
n.4676-17_4676-10del
c.2436-17_2436-10del (n.2436-17_2436-10del)
c.4008-17_4008-10del (n.4008-17_4008-10del)
c.1457-17_1457-10del (n.1457-17_1457-10del)
c.2775-17_2775-10del (n.2775-17_2775-10del)
n.2963_2970del
n.2597-17_2597-10del
n.2264-17_2264-10del
n.2666-17_2666-10del
n.1411-17_1411-10del
n.3296-17_3296-10del
n.3989_3996del
n.4251_4258del
c.4002-17_4002-10del (n.4002-17_4002-10del)
c.3612-17_3612-10del (n.3612-17_3612-10del)
c.169+1436_169+1443del (n.169+1436_169+1443del)
c.*124+1235_*124+1242del (n.*124+1235_*124+1242del)
c.*3349-17_*3349-10del (n.*3349-17_*3349-10del)
n.3151_3158del
c.3096-17_3096-10del (n.3096-17_3096-10del)
c.903-17_903-10del (n.903-17_903-10del)
c.3819-17_3819-10del (n.3819-17_3819-10del)
c.4095-17_4095-10del (n.4095-17_4095-10del)
c.3912-17_3912-10del (n.3912-17_3912-10del)
c.3798-17_3798-10del (n.3798-17_3798-10del)
c.3189-17_3189-10del (n.3189-17_3189-10del)
dbSNP gnomAD v4
2g.47806761_47806769delCA46720251FBXO11,MSH6c.3705-18_3705-10del (n.3705-18_3705-10del)
c.3618-18_3618-10del (n.3618-18_3618-10del)
n.4676-18_4676-10del
c.2436-18_2436-10del (n.2436-18_2436-10del)
c.4008-18_4008-10del (n.4008-18_4008-10del)
c.1457-18_1457-10del (n.1457-18_1457-10del)
c.2775-18_2775-10del (n.2775-18_2775-10del)
n.2962_2970del
n.2597-18_2597-10del
n.2264-18_2264-10del
n.2666-18_2666-10del
n.1411-18_1411-10del
n.3296-18_3296-10del
n.3988_3996del
n.4250_4258del
c.4002-18_4002-10del (n.4002-18_4002-10del)
c.3612-18_3612-10del (n.3612-18_3612-10del)
c.169+1435_169+1443del (n.169+1435_169+1443del)
c.*124+1234_*124+1242del (n.*124+1234_*124+1242del)
c.*3349-18_*3349-10del (n.*3349-18_*3349-10del)
n.3150_3158del
c.3096-18_3096-10del (n.3096-18_3096-10del)
c.903-18_903-10del (n.903-18_903-10del)
c.3819-18_3819-10del (n.3819-18_3819-10del)
c.4095-18_4095-10del (n.4095-18_4095-10del)
c.3912-18_3912-10del (n.3912-18_3912-10del)
c.3798-18_3798-10del (n.3798-18_3798-10del)
c.3189-18_3189-10del (n.3189-18_3189-10del)
ClinVar dbSNP gnomAD v3 gnomAD v4
2g.47806760_47806769delCA2658969779FBXO11,MSH6c.3705-19_3705-10del (n.3705-19_3705-10del)
c.3618-19_3618-10del (n.3618-19_3618-10del)
n.4676-19_4676-10del
c.2436-19_2436-10del (n.2436-19_2436-10del)
c.4008-19_4008-10del (n.4008-19_4008-10del)
c.1457-19_1457-10del (n.1457-19_1457-10del)
c.2775-19_2775-10del (n.2775-19_2775-10del)
n.2961_2970del
n.2597-19_2597-10del
n.2264-19_2264-10del
n.2666-19_2666-10del
n.1411-19_1411-10del
n.3296-19_3296-10del
n.3987_3996del
n.4249_4258del
c.4002-19_4002-10del (n.4002-19_4002-10del)
c.3612-19_3612-10del (n.3612-19_3612-10del)
c.169+1434_169+1443del (n.169+1434_169+1443del)
c.*124+1233_*124+1242del (n.*124+1233_*124+1242del)
c.*3349-19_*3349-10del (n.*3349-19_*3349-10del)
n.3149_3158del
c.3096-19_3096-10del (n.3096-19_3096-10del)
c.903-19_903-10del (n.903-19_903-10del)
c.3819-19_3819-10del (n.3819-19_3819-10del)
c.4095-19_4095-10del (n.4095-19_4095-10del)
c.3912-19_3912-10del (n.3912-19_3912-10del)
c.3798-19_3798-10del (n.3798-19_3798-10del)
c.3189-19_3189-10del (n.3189-19_3189-10del)
ClinVar gnomAD v4
2g.47806759_47806769delCA913188071FBXO11,MSH6c.3705-20_3705-10del (n.3705-20_3705-10del)
c.3618-20_3618-10del (n.3618-20_3618-10del)
n.4676-20_4676-10del
c.2436-20_2436-10del (n.2436-20_2436-10del)
c.4008-20_4008-10del (n.4008-20_4008-10del)
c.1457-20_1457-10del (n.1457-20_1457-10del)
c.2775-20_2775-10del (n.2775-20_2775-10del)
n.2960_2970del
n.2597-20_2597-10del
n.2264-20_2264-10del
n.2666-20_2666-10del
n.1411-20_1411-10del
n.3296-20_3296-10del
n.3986_3996del
n.4248_4258del
c.4002-20_4002-10del (n.4002-20_4002-10del)
c.3612-20_3612-10del (n.3612-20_3612-10del)
c.169+1433_169+1443del (n.169+1433_169+1443del)
c.*124+1232_*124+1242del (n.*124+1232_*124+1242del)
c.*3349-20_*3349-10del (n.*3349-20_*3349-10del)
n.3148_3158del
c.3096-20_3096-10del (n.3096-20_3096-10del)
c.903-20_903-10del (n.903-20_903-10del)
c.3819-20_3819-10del (n.3819-20_3819-10del)
c.4095-20_4095-10del (n.4095-20_4095-10del)
c.3912-20_3912-10del (n.3912-20_3912-10del)
c.3798-20_3798-10del (n.3798-20_3798-10del)
c.3189-20_3189-10del (n.3189-20_3189-10del)
ClinVar dbSNP gnomAD v3 gnomAD v4
2g.47806757_47806769delCA1030297542FBXO11,MSH6c.3705-22_3705-10del (n.3705-22_3705-10del)
c.3618-22_3618-10del (n.3618-22_3618-10del)
n.4676-22_4676-10del
c.2436-22_2436-10del (n.2436-22_2436-10del)
c.4008-22_4008-10del (n.4008-22_4008-10del)
c.1457-22_1457-10del (n.1457-22_1457-10del)
c.2775-22_2775-10del (n.2775-22_2775-10del)
n.2958_2970del
n.2597-22_2597-10del
n.2264-22_2264-10del
n.2666-22_2666-10del
n.1411-22_1411-10del
n.3296-22_3296-10del
n.3984_3996del
n.4246_4258del
c.4002-22_4002-10del (n.4002-22_4002-10del)
c.3612-22_3612-10del (n.3612-22_3612-10del)
c.169+1431_169+1443del (n.169+1431_169+1443del)
c.*124+1230_*124+1242del (n.*124+1230_*124+1242del)
c.*3349-22_*3349-10del (n.*3349-22_*3349-10del)
n.3146_3158del
c.3096-22_3096-10del (n.3096-22_3096-10del)
c.903-22_903-10del (n.903-22_903-10del)
c.3819-22_3819-10del (n.3819-22_3819-10del)
c.4095-22_4095-10del (n.4095-22_4095-10del)
c.3912-22_3912-10del (n.3912-22_3912-10del)
c.3798-22_3798-10del (n.3798-22_3798-10del)
c.3189-22_3189-10del (n.3189-22_3189-10del)
dbSNP gnomAD v3 gnomAD v4
2g.47806755_47806769delCA2573134803FBXO11,MSH6c.3705-24_3705-10del (n.3705-24_3705-10del)
c.3618-24_3618-10del (n.3618-24_3618-10del)
n.4676-24_4676-10del
c.2436-24_2436-10del (n.2436-24_2436-10del)
c.4008-24_4008-10del (n.4008-24_4008-10del)
c.1457-24_1457-10del (n.1457-24_1457-10del)
c.2775-24_2775-10del (n.2775-24_2775-10del)
n.2956_2970del
n.2597-24_2597-10del
n.2264-24_2264-10del
n.2666-24_2666-10del
n.1411-24_1411-10del
n.3296-24_3296-10del
n.3982_3996del
n.4244_4258del
c.4002-24_4002-10del (n.4002-24_4002-10del)
c.3612-24_3612-10del (n.3612-24_3612-10del)
c.169+1429_169+1443del (n.169+1429_169+1443del)
c.*124+1228_*124+1242del (n.*124+1228_*124+1242del)
c.*3349-24_*3349-10del (n.*3349-24_*3349-10del)
n.3144_3158del
c.3096-24_3096-10del (n.3096-24_3096-10del)
c.903-24_903-10del (n.903-24_903-10del)
c.3819-24_3819-10del (n.3819-24_3819-10del)
c.4095-24_4095-10del (n.4095-24_4095-10del)
c.3912-24_3912-10del (n.3912-24_3912-10del)
c.3798-24_3798-10del (n.3798-24_3798-10del)
c.3189-24_3189-10del (n.3189-24_3189-10del)
ClinVar dbSNP gnomAD v4
2g.47806752_47806771delinsTTTTTTTTTTTTTTTTTTAACA2496054487FBXO11,MSH6c.3705-27_3705-8delinsTTTTTTTTTTTTTTTTTTAA (n.3705-27_3705-8delinsTTTTTTTTTTTTTTTTTTAA)
c.3618-27_3618-8delinsTTTTTTTTTTTTTTTTTTAA (n.3618-27_3618-8delinsTTTTTTTTTTTTTTTTTTAA)
n.4676-27_4676-8delinsTTTTTTTTTTTTTTTTTTAA
c.2436-27_2436-8delinsTTTTTTTTTTTTTTTTTTAA (n.2436-27_2436-8delinsTTTTTTTTTTTTTTTTTTAA)
c.4008-27_4008-8delinsTTTTTTTTTTTTTTTTTTAA (n.4008-27_4008-8delinsTTTTTTTTTTTTTTTTTTAA)
c.1457-27_1457-8delinsTTTTTTTTTTTTTTTTTTAA (n.1457-27_1457-8delinsTTTTTTTTTTTTTTTTTTAA)
c.2775-27_2775-8delinsTTTTTTTTTTTTTTTTTTAA (n.2775-27_2775-8delinsTTTTTTTTTTTTTTTTTTAA)
n.2953_2972delinsTTTTTTTTTTTTTTTTTTAA
n.2597-27_2597-8delinsTTTTTTTTTTTTTTTTTTAA
n.2264-27_2264-8delinsTTTTTTTTTTTTTTTTTTAA
n.2666-27_2666-8delinsTTTTTTTTTTTTTTTTTTAA
n.1411-27_1411-8delinsTTTTTTTTTTTTTTTTTTAA
n.3296-27_3296-8delinsTTTTTTTTTTTTTTTTTTAA
n.3977_3996delinsTTAAAAAAAAAAAAAAAAAA
n.4239_4258delinsTTAAAAAAAAAAAAAAAAAA
c.4002-27_4002-8delinsTTTTTTTTTTTTTTTTTTAA (n.4002-27_4002-8delinsTTTTTTTTTTTTTTTTTTAA)
c.3612-27_3612-8delinsTTTTTTTTTTTTTTTTTTAA (n.3612-27_3612-8delinsTTTTTTTTTTTTTTTTTTAA)
c.169+1424_169+1443delinsTTAAAAAAAAAAAAAAAAAA (n.169+1424_169+1443delinsTTAAAAAAAAAAAAAAAAAA)
c.*124+1223_*124+1242delinsTTAAAAAAAAAAAAAAAAAA (n.*124+1223_*124+1242delinsTTAAAAAAAAAAAAAAAAAA)
c.*3349-27_*3349-8delinsTTTTTTTTTTTTTTTTTTAA (n.*3349-27_*3349-8delinsTTTTTTTTTTTTTTTTTTAA)
n.3139_3158delinsTTAAAAAAAAAAAAAAAAAA
c.3096-27_3096-8delinsTTTTTTTTTTTTTTTTTTAA (n.3096-27_3096-8delinsTTTTTTTTTTTTTTTTTTAA)
c.903-27_903-8delinsTTTTTTTTTTTTTTTTTTAA (n.903-27_903-8delinsTTTTTTTTTTTTTTTTTTAA)
c.3819-27_3819-8delinsTTTTTTTTTTTTTTTTTTAA (n.3819-27_3819-8delinsTTTTTTTTTTTTTTTTTTAA)
c.4095-27_4095-8delinsTTTTTTTTTTTTTTTTTTAA (n.4095-27_4095-8delinsTTTTTTTTTTTTTTTTTTAA)
c.3912-27_3912-8delinsTTTTTTTTTTTTTTTTTTAA (n.3912-27_3912-8delinsTTTTTTTTTTTTTTTTTTAA)
c.3798-27_3798-8delinsTTTTTTTTTTTTTTTTTTAA (n.3798-27_3798-8delinsTTTTTTTTTTTTTTTTTTAA)
c.3189-27_3189-8delinsTTTTTTTTTTTTTTTTTTAA (n.3189-27_3189-8delinsTTTTTTTTTTTTTTTTTTAA)
2g.47806771_47806772insAAATTTTTTTTTTTTTTTTTTAACA2658969774FBXO11,MSH6c.3705-8_3705-7insAAATTTTTTTTTTTTTTTTTTAA (n.3705-8_3705-7insAAATTTTTTTTTTTTTTTTTTAA)
c.3618-8_3618-7insAAATTTTTTTTTTTTTTTTTTAA (n.3618-8_3618-7insAAATTTTTTTTTTTTTTTTTTAA)
n.4676-8_4676-7insAAATTTTTTTTTTTTTTTTTTAA
c.2436-8_2436-7insAAATTTTTTTTTTTTTTTTTTAA (n.2436-8_2436-7insAAATTTTTTTTTTTTTTTTTTAA)
c.4008-8_4008-7insAAATTTTTTTTTTTTTTTTTTAA (n.4008-8_4008-7insAAATTTTTTTTTTTTTTTTTTAA)
c.1457-8_1457-7insAAATTTTTTTTTTTTTTTTTTAA (n.1457-8_1457-7insAAATTTTTTTTTTTTTTTTTTAA)
c.2775-8_2775-7insAAATTTTTTTTTTTTTTTTTTAA (n.2775-8_2775-7insAAATTTTTTTTTTTTTTTTTTAA)
n.2972_2973insAAATTTTTTTTTTTTTTTTTTAA
n.2597-8_2597-7insAAATTTTTTTTTTTTTTTTTTAA
n.2264-8_2264-7insAAATTTTTTTTTTTTTTTTTTAA
n.2666-8_2666-7insAAATTTTTTTTTTTTTTTTTTAA
n.1411-8_1411-7insAAATTTTTTTTTTTTTTTTTTAA
n.3296-8_3296-7insAAATTTTTTTTTTTTTTTTTTAA
n.3996_3997insTTTTTAAAAAAAAAAAAAAAAAA
n.4258_4259insTTTTTAAAAAAAAAAAAAAAAAA
c.4002-8_4002-7insAAATTTTTTTTTTTTTTTTTTAA (n.4002-8_4002-7insAAATTTTTTTTTTTTTTTTTTAA)
c.3612-8_3612-7insAAATTTTTTTTTTTTTTTTTTAA (n.3612-8_3612-7insAAATTTTTTTTTTTTTTTTTTAA)
c.169+1443_169+1444insTTTTTAAAAAAAAAAAAAAAAAA (n.169+1443_169+1444insTTTTTAAAAAAAAAAAAAAAAAA)
c.*124+1242_*124+1243insTTTTTAAAAAAAAAAAAAAAAAA (n.*124+1242_*124+1243insTTTTTAAAAAAAAAAAAAAAAAA)
c.*3349-8_*3349-7insAAATTTTTTTTTTTTTTTTTTAA (n.*3349-8_*3349-7insAAATTTTTTTTTTTTTTTTTTAA)
c.3096-8_3096-7insAAATTTTTTTTTTTTTTTTTTAA (n.3096-8_3096-7insAAATTTTTTTTTTTTTTTTTTAA)
c.903-8_903-7insAAATTTTTTTTTTTTTTTTTTAA (n.903-8_903-7insAAATTTTTTTTTTTTTTTTTTAA)
c.3819-8_3819-7insAAATTTTTTTTTTTTTTTTTTAA (n.3819-8_3819-7insAAATTTTTTTTTTTTTTTTTTAA)
c.4095-8_4095-7insAAATTTTTTTTTTTTTTTTTTAA (n.4095-8_4095-7insAAATTTTTTTTTTTTTTTTTTAA)
c.3912-8_3912-7insAAATTTTTTTTTTTTTTTTTTAA (n.3912-8_3912-7insAAATTTTTTTTTTTTTTTTTTAA)
c.3798-8_3798-7insAAATTTTTTTTTTTTTTTTTTAA (n.3798-8_3798-7insAAATTTTTTTTTTTTTTTTTTAA)
c.3189-8_3189-7insAAATTTTTTTTTTTTTTTTTTAA (n.3189-8_3189-7insAAATTTTTTTTTTTTTTTTTTAA)
gnomAD v4
2g.47806771_47806772insAAGTTTTTTTTTTTTTTTTTTAACA2658969766FBXO11,MSH6c.3705-8_3705-7insAAGTTTTTTTTTTTTTTTTTTAA (n.3705-8_3705-7insAAGTTTTTTTTTTTTTTTTTTAA)
c.3618-8_3618-7insAAGTTTTTTTTTTTTTTTTTTAA (n.3618-8_3618-7insAAGTTTTTTTTTTTTTTTTTTAA)
n.4676-8_4676-7insAAGTTTTTTTTTTTTTTTTTTAA
c.2436-8_2436-7insAAGTTTTTTTTTTTTTTTTTTAA (n.2436-8_2436-7insAAGTTTTTTTTTTTTTTTTTTAA)
c.4008-8_4008-7insAAGTTTTTTTTTTTTTTTTTTAA (n.4008-8_4008-7insAAGTTTTTTTTTTTTTTTTTTAA)
c.1457-8_1457-7insAAGTTTTTTTTTTTTTTTTTTAA (n.1457-8_1457-7insAAGTTTTTTTTTTTTTTTTTTAA)
c.2775-8_2775-7insAAGTTTTTTTTTTTTTTTTTTAA (n.2775-8_2775-7insAAGTTTTTTTTTTTTTTTTTTAA)
n.2972_2973insAAGTTTTTTTTTTTTTTTTTTAA
n.2597-8_2597-7insAAGTTTTTTTTTTTTTTTTTTAA
n.2264-8_2264-7insAAGTTTTTTTTTTTTTTTTTTAA
n.2666-8_2666-7insAAGTTTTTTTTTTTTTTTTTTAA
n.1411-8_1411-7insAAGTTTTTTTTTTTTTTTTTTAA
n.3296-8_3296-7insAAGTTTTTTTTTTTTTTTTTTAA
n.3996_3997insCTTTTAAAAAAAAAAAAAAAAAA
n.4258_4259insCTTTTAAAAAAAAAAAAAAAAAA
c.4002-8_4002-7insAAGTTTTTTTTTTTTTTTTTTAA (n.4002-8_4002-7insAAGTTTTTTTTTTTTTTTTTTAA)
c.3612-8_3612-7insAAGTTTTTTTTTTTTTTTTTTAA (n.3612-8_3612-7insAAGTTTTTTTTTTTTTTTTTTAA)
c.169+1443_169+1444insCTTTTAAAAAAAAAAAAAAAAAA (n.169+1443_169+1444insCTTTTAAAAAAAAAAAAAAAAAA)
c.*124+1242_*124+1243insCTTTTAAAAAAAAAAAAAAAAAA (n.*124+1242_*124+1243insCTTTTAAAAAAAAAAAAAAAAAA)
c.*3349-8_*3349-7insAAGTTTTTTTTTTTTTTTTTTAA (n.*3349-8_*3349-7insAAGTTTTTTTTTTTTTTTTTTAA)
c.3096-8_3096-7insAAGTTTTTTTTTTTTTTTTTTAA (n.3096-8_3096-7insAAGTTTTTTTTTTTTTTTTTTAA)
c.903-8_903-7insAAGTTTTTTTTTTTTTTTTTTAA (n.903-8_903-7insAAGTTTTTTTTTTTTTTTTTTAA)
c.3819-8_3819-7insAAGTTTTTTTTTTTTTTTTTTAA (n.3819-8_3819-7insAAGTTTTTTTTTTTTTTTTTTAA)
c.4095-8_4095-7insAAGTTTTTTTTTTTTTTTTTTAA (n.4095-8_4095-7insAAGTTTTTTTTTTTTTTTTTTAA)
c.3912-8_3912-7insAAGTTTTTTTTTTTTTTTTTTAA (n.3912-8_3912-7insAAGTTTTTTTTTTTTTTTTTTAA)
c.3798-8_3798-7insAAGTTTTTTTTTTTTTTTTTTAA (n.3798-8_3798-7insAAGTTTTTTTTTTTTTTTTTTAA)
c.3189-8_3189-7insAAGTTTTTTTTTTTTTTTTTTAA (n.3189-8_3189-7insAAGTTTTTTTTTTTTTTTTTTAA)
gnomAD v4
2g.47806771_47806772insAAATTTTTTTTTTTTTTTTTTTAACA2658969771FBXO11,MSH6c.3705-8_3705-7insAAATTTTTTTTTTTTTTTTTTTAA (n.3705-8_3705-7insAAATTTTTTTTTTTTTTTTTTTAA)
c.3618-8_3618-7insAAATTTTTTTTTTTTTTTTTTTAA (n.3618-8_3618-7insAAATTTTTTTTTTTTTTTTTTTAA)
n.4676-8_4676-7insAAATTTTTTTTTTTTTTTTTTTAA
c.2436-8_2436-7insAAATTTTTTTTTTTTTTTTTTTAA (n.2436-8_2436-7insAAATTTTTTTTTTTTTTTTTTTAA)
c.4008-8_4008-7insAAATTTTTTTTTTTTTTTTTTTAA (n.4008-8_4008-7insAAATTTTTTTTTTTTTTTTTTTAA)
c.1457-8_1457-7insAAATTTTTTTTTTTTTTTTTTTAA (n.1457-8_1457-7insAAATTTTTTTTTTTTTTTTTTTAA)
c.2775-8_2775-7insAAATTTTTTTTTTTTTTTTTTTAA (n.2775-8_2775-7insAAATTTTTTTTTTTTTTTTTTTAA)
n.2972_2973insAAATTTTTTTTTTTTTTTTTTTAA
n.2597-8_2597-7insAAATTTTTTTTTTTTTTTTTTTAA
n.2264-8_2264-7insAAATTTTTTTTTTTTTTTTTTTAA
n.2666-8_2666-7insAAATTTTTTTTTTTTTTTTTTTAA
n.1411-8_1411-7insAAATTTTTTTTTTTTTTTTTTTAA
n.3296-8_3296-7insAAATTTTTTTTTTTTTTTTTTTAA
n.3996_3997insATTTTTAAAAAAAAAAAAAAAAAA
n.4258_4259insATTTTTAAAAAAAAAAAAAAAAAA
c.4002-8_4002-7insAAATTTTTTTTTTTTTTTTTTTAA (n.4002-8_4002-7insAAATTTTTTTTTTTTTTTTTTTAA)
c.3612-8_3612-7insAAATTTTTTTTTTTTTTTTTTTAA (n.3612-8_3612-7insAAATTTTTTTTTTTTTTTTTTTAA)
c.169+1443_169+1444insATTTTTAAAAAAAAAAAAAAAAAA (n.169+1443_169+1444insATTTTTAAAAAAAAAAAAAAAAAA)
c.*124+1242_*124+1243insATTTTTAAAAAAAAAAAAAAAAAA (n.*124+1242_*124+1243insATTTTTAAAAAAAAAAAAAAAAAA)
c.*3349-8_*3349-7insAAATTTTTTTTTTTTTTTTTTTAA (n.*3349-8_*3349-7insAAATTTTTTTTTTTTTTTTTTTAA)
c.3096-8_3096-7insAAATTTTTTTTTTTTTTTTTTTAA (n.3096-8_3096-7insAAATTTTTTTTTTTTTTTTTTTAA)
c.903-8_903-7insAAATTTTTTTTTTTTTTTTTTTAA (n.903-8_903-7insAAATTTTTTTTTTTTTTTTTTTAA)
c.3819-8_3819-7insAAATTTTTTTTTTTTTTTTTTTAA (n.3819-8_3819-7insAAATTTTTTTTTTTTTTTTTTTAA)
c.4095-8_4095-7insAAATTTTTTTTTTTTTTTTTTTAA (n.4095-8_4095-7insAAATTTTTTTTTTTTTTTTTTTAA)
c.3912-8_3912-7insAAATTTTTTTTTTTTTTTTTTTAA (n.3912-8_3912-7insAAATTTTTTTTTTTTTTTTTTTAA)
c.3798-8_3798-7insAAATTTTTTTTTTTTTTTTTTTAA (n.3798-8_3798-7insAAATTTTTTTTTTTTTTTTTTTAA)
c.3189-8_3189-7insAAATTTTTTTTTTTTTTTTTTTAA (n.3189-8_3189-7insAAATTTTTTTTTTTTTTTTTTTAA)
gnomAD v4
2g.47806771_47806772insAACTTTTTTTTTTTTTTTTTTTAACA1030297561FBXO11,MSH6c.3705-8_3705-7insAACTTTTTTTTTTTTTTTTTTTAA (n.3705-8_3705-7insAACTTTTTTTTTTTTTTTTTTTAA)
c.3618-8_3618-7insAACTTTTTTTTTTTTTTTTTTTAA (n.3618-8_3618-7insAACTTTTTTTTTTTTTTTTTTTAA)
n.4676-8_4676-7insAACTTTTTTTTTTTTTTTTTTTAA
c.2436-8_2436-7insAACTTTTTTTTTTTTTTTTTTTAA (n.2436-8_2436-7insAACTTTTTTTTTTTTTTTTTTTAA)
c.4008-8_4008-7insAACTTTTTTTTTTTTTTTTTTTAA (n.4008-8_4008-7insAACTTTTTTTTTTTTTTTTTTTAA)
c.1457-8_1457-7insAACTTTTTTTTTTTTTTTTTTTAA (n.1457-8_1457-7insAACTTTTTTTTTTTTTTTTTTTAA)
c.2775-8_2775-7insAACTTTTTTTTTTTTTTTTTTTAA (n.2775-8_2775-7insAACTTTTTTTTTTTTTTTTTTTAA)
n.2972_2973insAACTTTTTTTTTTTTTTTTTTTAA
n.2597-8_2597-7insAACTTTTTTTTTTTTTTTTTTTAA
n.2264-8_2264-7insAACTTTTTTTTTTTTTTTTTTTAA
n.2666-8_2666-7insAACTTTTTTTTTTTTTTTTTTTAA
n.1411-8_1411-7insAACTTTTTTTTTTTTTTTTTTTAA
n.3296-8_3296-7insAACTTTTTTTTTTTTTTTTTTTAA
n.3996_3997insAGTTTTAAAAAAAAAAAAAAAAAA
n.4258_4259insAGTTTTAAAAAAAAAAAAAAAAAA
c.4002-8_4002-7insAACTTTTTTTTTTTTTTTTTTTAA (n.4002-8_4002-7insAACTTTTTTTTTTTTTTTTTTTAA)
c.3612-8_3612-7insAACTTTTTTTTTTTTTTTTTTTAA (n.3612-8_3612-7insAACTTTTTTTTTTTTTTTTTTTAA)
c.169+1443_169+1444insAGTTTTAAAAAAAAAAAAAAAAAA (n.169+1443_169+1444insAGTTTTAAAAAAAAAAAAAAAAAA)
c.*124+1242_*124+1243insAGTTTTAAAAAAAAAAAAAAAAAA (n.*124+1242_*124+1243insAGTTTTAAAAAAAAAAAAAAAAAA)
c.*3349-8_*3349-7insAACTTTTTTTTTTTTTTTTTTTAA (n.*3349-8_*3349-7insAACTTTTTTTTTTTTTTTTTTTAA)
c.3096-8_3096-7insAACTTTTTTTTTTTTTTTTTTTAA (n.3096-8_3096-7insAACTTTTTTTTTTTTTTTTTTTAA)
c.903-8_903-7insAACTTTTTTTTTTTTTTTTTTTAA (n.903-8_903-7insAACTTTTTTTTTTTTTTTTTTTAA)
c.3819-8_3819-7insAACTTTTTTTTTTTTTTTTTTTAA (n.3819-8_3819-7insAACTTTTTTTTTTTTTTTTTTTAA)
c.4095-8_4095-7insAACTTTTTTTTTTTTTTTTTTTAA (n.4095-8_4095-7insAACTTTTTTTTTTTTTTTTTTTAA)
c.3912-8_3912-7insAACTTTTTTTTTTTTTTTTTTTAA (n.3912-8_3912-7insAACTTTTTTTTTTTTTTTTTTTAA)
c.3798-8_3798-7insAACTTTTTTTTTTTTTTTTTTTAA (n.3798-8_3798-7insAACTTTTTTTTTTTTTTTTTTTAA)
c.3189-8_3189-7insAACTTTTTTTTTTTTTTTTTTTAA (n.3189-8_3189-7insAACTTTTTTTTTTTTTTTTTTTAA)
dbSNP gnomAD v3 gnomAD v4
2g.47806771_47806772insAACTTTTTTTTTTTTTTTTTTTTAACA2658969768FBXO11,MSH6c.3705-8_3705-7insAACTTTTTTTTTTTTTTTTTTTTAA (n.3705-8_3705-7insAACTTTTTTTTTTTTTTTTTTTTAA)
c.3618-8_3618-7insAACTTTTTTTTTTTTTTTTTTTTAA (n.3618-8_3618-7insAACTTTTTTTTTTTTTTTTTTTTAA)
n.4676-8_4676-7insAACTTTTTTTTTTTTTTTTTTTTAA
c.2436-8_2436-7insAACTTTTTTTTTTTTTTTTTTTTAA (n.2436-8_2436-7insAACTTTTTTTTTTTTTTTTTTTTAA)
c.4008-8_4008-7insAACTTTTTTTTTTTTTTTTTTTTAA (n.4008-8_4008-7insAACTTTTTTTTTTTTTTTTTTTTAA)
c.1457-8_1457-7insAACTTTTTTTTTTTTTTTTTTTTAA (n.1457-8_1457-7insAACTTTTTTTTTTTTTTTTTTTTAA)
c.2775-8_2775-7insAACTTTTTTTTTTTTTTTTTTTTAA (n.2775-8_2775-7insAACTTTTTTTTTTTTTTTTTTTTAA)
n.2972_2973insAACTTTTTTTTTTTTTTTTTTTTAA
n.2597-8_2597-7insAACTTTTTTTTTTTTTTTTTTTTAA
n.2264-8_2264-7insAACTTTTTTTTTTTTTTTTTTTTAA
n.2666-8_2666-7insAACTTTTTTTTTTTTTTTTTTTTAA
n.1411-8_1411-7insAACTTTTTTTTTTTTTTTTTTTTAA
n.3296-8_3296-7insAACTTTTTTTTTTTTTTTTTTTTAA
n.3996_3997insAAGTTTTAAAAAAAAAAAAAAAAAA
n.4258_4259insAAGTTTTAAAAAAAAAAAAAAAAAA
c.4002-8_4002-7insAACTTTTTTTTTTTTTTTTTTTTAA (n.4002-8_4002-7insAACTTTTTTTTTTTTTTTTTTTTAA)
c.3612-8_3612-7insAACTTTTTTTTTTTTTTTTTTTTAA (n.3612-8_3612-7insAACTTTTTTTTTTTTTTTTTTTTAA)
c.169+1443_169+1444insAAGTTTTAAAAAAAAAAAAAAAAAA (n.169+1443_169+1444insAAGTTTTAAAAAAAAAAAAAAAAAA)
c.*124+1242_*124+1243insAAGTTTTAAAAAAAAAAAAAAAAAA (n.*124+1242_*124+1243insAAGTTTTAAAAAAAAAAAAAAAAAA)
c.*3349-8_*3349-7insAACTTTTTTTTTTTTTTTTTTTTAA (n.*3349-8_*3349-7insAACTTTTTTTTTTTTTTTTTTTTAA)
c.3096-8_3096-7insAACTTTTTTTTTTTTTTTTTTTTAA (n.3096-8_3096-7insAACTTTTTTTTTTTTTTTTTTTTAA)
c.903-8_903-7insAACTTTTTTTTTTTTTTTTTTTTAA (n.903-8_903-7insAACTTTTTTTTTTTTTTTTTTTTAA)
c.3819-8_3819-7insAACTTTTTTTTTTTTTTTTTTTTAA (n.3819-8_3819-7insAACTTTTTTTTTTTTTTTTTTTTAA)
c.4095-8_4095-7insAACTTTTTTTTTTTTTTTTTTTTAA (n.4095-8_4095-7insAACTTTTTTTTTTTTTTTTTTTTAA)
c.3912-8_3912-7insAACTTTTTTTTTTTTTTTTTTTTAA (n.3912-8_3912-7insAACTTTTTTTTTTTTTTTTTTTTAA)
c.3798-8_3798-7insAACTTTTTTTTTTTTTTTTTTTTAA (n.3798-8_3798-7insAACTTTTTTTTTTTTTTTTTTTTAA)
c.3189-8_3189-7insAACTTTTTTTTTTTTTTTTTTTTAA (n.3189-8_3189-7insAACTTTTTTTTTTTTTTTTTTTTAA)
gnomAD v4
2g.47806756_47806775delCA2739274450FBXO11,MSH6c.3705-23_3705-4del (n.3705-23_3705-4del)
c.3618-23_3618-4del (n.3618-23_3618-4del)
n.4676-23_4676-4del
c.2436-23_2436-4del (n.2436-23_2436-4del)
c.4008-23_4008-4del (n.4008-23_4008-4del)
c.1457-23_1457-4del (n.1457-23_1457-4del)
c.2775-23_2775-4del (n.2775-23_2775-4del)
n.2957_2976del
n.2597-23_2597-4del
n.2264-23_2264-4del
n.2666-23_2666-4del
n.1411-23_1411-4del
n.3296-23_3296-4del
n.3977_3996del
n.4239_4258del
c.4002-23_4002-4del (n.4002-23_4002-4del)
c.3612-23_3612-4del (n.3612-23_3612-4del)
c.169+1424_169+1443del (n.169+1424_169+1443del)
c.*124+1223_*124+1242del (n.*124+1223_*124+1242del)
c.*3349-23_*3349-4del (n.*3349-23_*3349-4del)
n.3139_3158del
c.3096-23_3096-4del (n.3096-23_3096-4del)
c.903-23_903-4del (n.903-23_903-4del)
c.3819-23_3819-4del (n.3819-23_3819-4del)
c.4095-23_4095-4del (n.4095-23_4095-4del)
c.3912-23_3912-4del (n.3912-23_3912-4del)
c.3798-23_3798-4del (n.3798-23_3798-4del)
c.3189-23_3189-4del (n.3189-23_3189-4del)
ClinVar
2g.47806766_47806767insAAAACTTTTTTTTTTTTTTCA2658969962FBXO11,MSH6c.3705-13_3705-12insAAAACTTTTTTTTTTTTTT (n.3705-13_3705-12insAAAACTTTTTTTTTTTTTT)
c.3618-13_3618-12insAAAACTTTTTTTTTTTTTT (n.3618-13_3618-12insAAAACTTTTTTTTTTTTTT)
n.4676-13_4676-12insAAAACTTTTTTTTTTTTTT
c.2436-13_2436-12insAAAACTTTTTTTTTTTTTT (n.2436-13_2436-12insAAAACTTTTTTTTTTTTTT)
c.4008-13_4008-12insAAAACTTTTTTTTTTTTTT (n.4008-13_4008-12insAAAACTTTTTTTTTTTTTT)
c.1457-13_1457-12insAAAACTTTTTTTTTTTTTT (n.1457-13_1457-12insAAAACTTTTTTTTTTTTTT)
c.2775-13_2775-12insAAAACTTTTTTTTTTTTTT (n.2775-13_2775-12insAAAACTTTTTTTTTTTTTT)
n.2967_2968insAAAACTTTTTTTTTTTTTT
n.2597-13_2597-12insAAAACTTTTTTTTTTTTTT
n.2264-13_2264-12insAAAACTTTTTTTTTTTTTT
n.2666-13_2666-12insAAAACTTTTTTTTTTTTTT
n.1411-13_1411-12insAAAACTTTTTTTTTTTTTT
n.3296-13_3296-12insAAAACTTTTTTTTTTTTTT
n.3995_3996insGTTTTAAAAAAAAAAAAAA
n.4257_4258insGTTTTAAAAAAAAAAAAAA
c.4002-13_4002-12insAAAACTTTTTTTTTTTTTT (n.4002-13_4002-12insAAAACTTTTTTTTTTTTTT)
c.3612-13_3612-12insAAAACTTTTTTTTTTTTTT (n.3612-13_3612-12insAAAACTTTTTTTTTTTTTT)
c.169+1442_169+1443insGTTTTAAAAAAAAAAAAAA (n.169+1442_169+1443insGTTTTAAAAAAAAAAAAAA)
c.*124+1241_*124+1242insGTTTTAAAAAAAAAAAAAA (n.*124+1241_*124+1242insGTTTTAAAAAAAAAAAAAA)
c.*3349-13_*3349-12insAAAACTTTTTTTTTTTTTT (n.*3349-13_*3349-12insAAAACTTTTTTTTTTTTTT)
n.3157_3158insGTTTTAAAAAAAAAAAAAA
c.3096-13_3096-12insAAAACTTTTTTTTTTTTTT (n.3096-13_3096-12insAAAACTTTTTTTTTTTTTT)
c.903-13_903-12insAAAACTTTTTTTTTTTTTT (n.903-13_903-12insAAAACTTTTTTTTTTTTTT)
c.3819-13_3819-12insAAAACTTTTTTTTTTTTTT (n.3819-13_3819-12insAAAACTTTTTTTTTTTTTT)
c.4095-13_4095-12insAAAACTTTTTTTTTTTTTT (n.4095-13_4095-12insAAAACTTTTTTTTTTTTTT)
c.3912-13_3912-12insAAAACTTTTTTTTTTTTTT (n.3912-13_3912-12insAAAACTTTTTTTTTTTTTT)
c.3798-13_3798-12insAAAACTTTTTTTTTTTTTT (n.3798-13_3798-12insAAAACTTTTTTTTTTTTTT)
c.3189-13_3189-12insAAAACTTTTTTTTTTTTTT (n.3189-13_3189-12insAAAACTTTTTTTTTTTTTT)
gnomAD v4
2g.47806767_47806768insAAAACTTTTTTTTTTTTTTTCA2658969972FBXO11,MSH6c.3705-12_3705-11insAAAACTTTTTTTTTTTTTTT (n.3705-12_3705-11insAAAACTTTTTTTTTTTTTTT)
c.3618-12_3618-11insAAAACTTTTTTTTTTTTTTT (n.3618-12_3618-11insAAAACTTTTTTTTTTTTTTT)
n.4676-12_4676-11insAAAACTTTTTTTTTTTTTTT
c.2436-12_2436-11insAAAACTTTTTTTTTTTTTTT (n.2436-12_2436-11insAAAACTTTTTTTTTTTTTTT)
c.4008-12_4008-11insAAAACTTTTTTTTTTTTTTT (n.4008-12_4008-11insAAAACTTTTTTTTTTTTTTT)
c.1457-12_1457-11insAAAACTTTTTTTTTTTTTTT (n.1457-12_1457-11insAAAACTTTTTTTTTTTTTTT)
c.2775-12_2775-11insAAAACTTTTTTTTTTTTTTT (n.2775-12_2775-11insAAAACTTTTTTTTTTTTTTT)
n.2968_2969insAAAACTTTTTTTTTTTTTTT
n.2597-12_2597-11insAAAACTTTTTTTTTTTTTTT
n.2264-12_2264-11insAAAACTTTTTTTTTTTTTTT
n.2666-12_2666-11insAAAACTTTTTTTTTTTTTTT
n.1411-12_1411-11insAAAACTTTTTTTTTTTTTTT
n.3296-12_3296-11insAAAACTTTTTTTTTTTTTTT
n.3995_3996insGTTTTAAAAAAAAAAAAAAA
n.4257_4258insGTTTTAAAAAAAAAAAAAAA
c.4002-12_4002-11insAAAACTTTTTTTTTTTTTTT (n.4002-12_4002-11insAAAACTTTTTTTTTTTTTTT)
c.3612-12_3612-11insAAAACTTTTTTTTTTTTTTT (n.3612-12_3612-11insAAAACTTTTTTTTTTTTTTT)
c.169+1442_169+1443insGTTTTAAAAAAAAAAAAAAA (n.169+1442_169+1443insGTTTTAAAAAAAAAAAAAAA)
c.*124+1241_*124+1242insGTTTTAAAAAAAAAAAAAAA (n.*124+1241_*124+1242insGTTTTAAAAAAAAAAAAAAA)
c.*3349-12_*3349-11insAAAACTTTTTTTTTTTTTTT (n.*3349-12_*3349-11insAAAACTTTTTTTTTTTTTTT)
n.3157_3158insGTTTTAAAAAAAAAAAAAAA
c.3096-12_3096-11insAAAACTTTTTTTTTTTTTTT (n.3096-12_3096-11insAAAACTTTTTTTTTTTTTTT)
c.903-12_903-11insAAAACTTTTTTTTTTTTTTT (n.903-12_903-11insAAAACTTTTTTTTTTTTTTT)
c.3819-12_3819-11insAAAACTTTTTTTTTTTTTTT (n.3819-12_3819-11insAAAACTTTTTTTTTTTTTTT)
c.4095-12_4095-11insAAAACTTTTTTTTTTTTTTT (n.4095-12_4095-11insAAAACTTTTTTTTTTTTTTT)
c.3912-12_3912-11insAAAACTTTTTTTTTTTTTTT (n.3912-12_3912-11insAAAACTTTTTTTTTTTTTTT)
c.3798-12_3798-11insAAAACTTTTTTTTTTTTTTT (n.3798-12_3798-11insAAAACTTTTTTTTTTTTTTT)
c.3189-12_3189-11insAAAACTTTTTTTTTTTTTTT (n.3189-12_3189-11insAAAACTTTTTTTTTTTTTTT)
gnomAD v4
2g.47806768_47806769insAAAACTTTTTTTTTTTTTTTTCA1649506FBXO11,MSH6c.3705-11_3705-10insAAAACTTTTTTTTTTTTTTTT (n.3705-11_3705-10insAAAACTTTTTTTTTTTTTTTT)
c.3618-11_3618-10insAAAACTTTTTTTTTTTTTTTT (n.3618-11_3618-10insAAAACTTTTTTTTTTTTTTTT)
n.4676-11_4676-10insAAAACTTTTTTTTTTTTTTTT
c.2436-11_2436-10insAAAACTTTTTTTTTTTTTTTT (n.2436-11_2436-10insAAAACTTTTTTTTTTTTTTTT)
c.4008-11_4008-10insAAAACTTTTTTTTTTTTTTTT (n.4008-11_4008-10insAAAACTTTTTTTTTTTTTTTT)
c.1457-11_1457-10insAAAACTTTTTTTTTTTTTTTT (n.1457-11_1457-10insAAAACTTTTTTTTTTTTTTTT)
c.2775-11_2775-10insAAAACTTTTTTTTTTTTTTTT (n.2775-11_2775-10insAAAACTTTTTTTTTTTTTTTT)
n.2969_2970insAAAACTTTTTTTTTTTTTTTT
n.2597-11_2597-10insAAAACTTTTTTTTTTTTTTTT
n.2264-11_2264-10insAAAACTTTTTTTTTTTTTTTT
n.2666-11_2666-10insAAAACTTTTTTTTTTTTTTTT
n.1411-11_1411-10insAAAACTTTTTTTTTTTTTTTT
n.3296-11_3296-10insAAAACTTTTTTTTTTTTTTTT
n.3995_3996insGTTTTAAAAAAAAAAAAAAAA
n.4257_4258insGTTTTAAAAAAAAAAAAAAAA
c.4002-11_4002-10insAAAACTTTTTTTTTTTTTTTT (n.4002-11_4002-10insAAAACTTTTTTTTTTTTTTTT)
c.3612-11_3612-10insAAAACTTTTTTTTTTTTTTTT (n.3612-11_3612-10insAAAACTTTTTTTTTTTTTTTT)
c.169+1442_169+1443insGTTTTAAAAAAAAAAAAAAAA (n.169+1442_169+1443insGTTTTAAAAAAAAAAAAAAAA)
c.*124+1241_*124+1242insGTTTTAAAAAAAAAAAAAAAA (n.*124+1241_*124+1242insGTTTTAAAAAAAAAAAAAAAA)
c.*3349-11_*3349-10insAAAACTTTTTTTTTTTTTTTT (n.*3349-11_*3349-10insAAAACTTTTTTTTTTTTTTTT)
n.3157_3158insGTTTTAAAAAAAAAAAAAAAA
c.3096-11_3096-10insAAAACTTTTTTTTTTTTTTTT (n.3096-11_3096-10insAAAACTTTTTTTTTTTTTTTT)
c.903-11_903-10insAAAACTTTTTTTTTTTTTTTT (n.903-11_903-10insAAAACTTTTTTTTTTTTTTTT)
c.3819-11_3819-10insAAAACTTTTTTTTTTTTTTTT (n.3819-11_3819-10insAAAACTTTTTTTTTTTTTTTT)
c.4095-11_4095-10insAAAACTTTTTTTTTTTTTTTT (n.4095-11_4095-10insAAAACTTTTTTTTTTTTTTTT)
c.3912-11_3912-10insAAAACTTTTTTTTTTTTTTTT (n.3912-11_3912-10insAAAACTTTTTTTTTTTTTTTT)
c.3798-11_3798-10insAAAACTTTTTTTTTTTTTTTT (n.3798-11_3798-10insAAAACTTTTTTTTTTTTTTTT)
c.3189-11_3189-10insAAAACTTTTTTTTTTTTTTTT (n.3189-11_3189-10insAAAACTTTTTTTTTTTTTTTT)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.47806768_47806769insAATTTTTGCACTATGAAAAAACAAAAAAACTTTTTTTTTTTTTTTTCA2563140270FBXO11,MSH6c.3705-11_3705-10insAATTTTTGCACTATGAAAAAACAAAAAAACTTTTTTTTTTTTTTTT (n.3705-11_3705-10insAATTTTTGCACTATGAAAAAACAAAAAAACTTTTTTTTTTTTTTTT)
c.3618-11_3618-10insAATTTTTGCACTATGAAAAAACAAAAAAACTTTTTTTTTTTTTTTT (n.3618-11_3618-10insAATTTTTGCACTATGAAAAAACAAAAAAACTTTTTTTTTTTTTTTT)
n.4676-11_4676-10insAATTTTTGCACTATGAAAAAACAAAAAAACTTTTTTTTTTTTTTTT
c.2436-11_2436-10insAATTTTTGCACTATGAAAAAACAAAAAAACTTTTTTTTTTTTTTTT (n.2436-11_2436-10insAATTTTTGCACTATGAAAAAACAAAAAAACTTTTTTTTTTTTTTTT)
c.4008-11_4008-10insAATTTTTGCACTATGAAAAAACAAAAAAACTTTTTTTTTTTTTTTT (n.4008-11_4008-10insAATTTTTGCACTATGAAAAAACAAAAAAACTTTTTTTTTTTTTTTT)
c.1457-11_1457-10insAATTTTTGCACTATGAAAAAACAAAAAAACTTTTTTTTTTTTTTTT (n.1457-11_1457-10insAATTTTTGCACTATGAAAAAACAAAAAAACTTTTTTTTTTTTTTTT)
c.2775-11_2775-10insAATTTTTGCACTATGAAAAAACAAAAAAACTTTTTTTTTTTTTTTT (n.2775-11_2775-10insAATTTTTGCACTATGAAAAAACAAAAAAACTTTTTTTTTTTTTTTT)
n.2969_2970insAATTTTTGCACTATGAAAAAACAAAAAAACTTTTTTTTTTTTTTTT
n.2597-11_2597-10insAATTTTTGCACTATGAAAAAACAAAAAAACTTTTTTTTTTTTTTTT
n.2264-11_2264-10insAATTTTTGCACTATGAAAAAACAAAAAAACTTTTTTTTTTTTTTTT
n.2666-11_2666-10insAATTTTTGCACTATGAAAAAACAAAAAAACTTTTTTTTTTTTTTTT
n.1411-11_1411-10insAATTTTTGCACTATGAAAAAACAAAAAAACTTTTTTTTTTTTTTTT
n.3296-11_3296-10insAATTTTTGCACTATGAAAAAACAAAAAAACTTTTTTTTTTTTTTTT
n.3995_3996insGTTTTTTTGTTTTTTCATAGTGCAAAAATTAAAAAAAAAAAAAAAA
n.4257_4258insGTTTTTTTGTTTTTTCATAGTGCAAAAATTAAAAAAAAAAAAAAAA
c.4002-11_4002-10insAATTTTTGCACTATGAAAAAACAAAAAAACTTTTTTTTTTTTTTTT (n.4002-11_4002-10insAATTTTTGCACTATGAAAAAACAAAAAAACTTTTTTTTTTTTTTTT)
c.3612-11_3612-10insAATTTTTGCACTATGAAAAAACAAAAAAACTTTTTTTTTTTTTTTT (n.3612-11_3612-10insAATTTTTGCACTATGAAAAAACAAAAAAACTTTTTTTTTTTTTTTT)
c.169+1442_169+1443insGTTTTTTTGTTTTTTCATAGTGCAAAAATTAAAAAAAAAAAAAAAA (n.169+1442_169+1443insGTTTTTTTGTTTTTTCATAGTGCAAAAATTAAAAAAAAAAAAAAAA)
c.*124+1241_*124+1242insGTTTTTTTGTTTTTTCATAGTGCAAAAATTAAAAAAAAAAAAAAAA (n.*124+1241_*124+1242insGTTTTTTTGTTTTTTCATAGTGCAAAAATTAAAAAAAAAAAAAAAA)
c.*3349-11_*3349-10insAATTTTTGCACTATGAAAAAACAAAAAAACTTTTTTTTTTTTTTTT (n.*3349-11_*3349-10insAATTTTTGCACTATGAAAAAACAAAAAAACTTTTTTTTTTTTTTTT)
n.3157_3158insGTTTTTTTGTTTTTTCATAGTGCAAAAATTAAAAAAAAAAAAAAAA
c.3096-11_3096-10insAATTTTTGCACTATGAAAAAACAAAAAAACTTTTTTTTTTTTTTTT (n.3096-11_3096-10insAATTTTTGCACTATGAAAAAACAAAAAAACTTTTTTTTTTTTTTTT)
c.903-11_903-10insAATTTTTGCACTATGAAAAAACAAAAAAACTTTTTTTTTTTTTTTT (n.903-11_903-10insAATTTTTGCACTATGAAAAAACAAAAAAACTTTTTTTTTTTTTTTT)
c.3819-11_3819-10insAATTTTTGCACTATGAAAAAACAAAAAAACTTTTTTTTTTTTTTTT (n.3819-11_3819-10insAATTTTTGCACTATGAAAAAACAAAAAAACTTTTTTTTTTTTTTTT)
c.4095-11_4095-10insAATTTTTGCACTATGAAAAAACAAAAAAACTTTTTTTTTTTTTTTT (n.4095-11_4095-10insAATTTTTGCACTATGAAAAAACAAAAAAACTTTTTTTTTTTTTTTT)
c.3912-11_3912-10insAATTTTTGCACTATGAAAAAACAAAAAAACTTTTTTTTTTTTTTTT (n.3912-11_3912-10insAATTTTTGCACTATGAAAAAACAAAAAAACTTTTTTTTTTTTTTTT)
c.3798-11_3798-10insAATTTTTGCACTATGAAAAAACAAAAAAACTTTTTTTTTTTTTTTT (n.3798-11_3798-10insAATTTTTGCACTATGAAAAAACAAAAAAACTTTTTTTTTTTTTTTT)
c.3189-11_3189-10insAATTTTTGCACTATGAAAAAACAAAAAAACTTTTTTTTTTTTTTTT (n.3189-11_3189-10insAATTTTTGCACTATGAAAAAACAAAAAAACTTTTTTTTTTTTTTTT)
2g.47806769_47806770insTAAAACTTTTTTTTTTTTTTTTTCA2658969964FBXO11,MSH6c.3705-10_3705-9insTAAAACTTTTTTTTTTTTTTTTT (n.3705-10_3705-9insTAAAACTTTTTTTTTTTTTTTTT)
c.3618-10_3618-9insTAAAACTTTTTTTTTTTTTTTTT (n.3618-10_3618-9insTAAAACTTTTTTTTTTTTTTTTT)
n.4676-10_4676-9insTAAAACTTTTTTTTTTTTTTTTT
c.2436-10_2436-9insTAAAACTTTTTTTTTTTTTTTTT (n.2436-10_2436-9insTAAAACTTTTTTTTTTTTTTTTT)
c.4008-10_4008-9insTAAAACTTTTTTTTTTTTTTTTT (n.4008-10_4008-9insTAAAACTTTTTTTTTTTTTTTTT)
c.1457-10_1457-9insTAAAACTTTTTTTTTTTTTTTTT (n.1457-10_1457-9insTAAAACTTTTTTTTTTTTTTTTT)
c.2775-10_2775-9insTAAAACTTTTTTTTTTTTTTTTT (n.2775-10_2775-9insTAAAACTTTTTTTTTTTTTTTTT)
n.2970_2971insTAAAACTTTTTTTTTTTTTTTTT
n.2597-10_2597-9insTAAAACTTTTTTTTTTTTTTTTT
n.2264-10_2264-9insTAAAACTTTTTTTTTTTTTTTTT
n.2666-10_2666-9insTAAAACTTTTTTTTTTTTTTTTT
n.1411-10_1411-9insTAAAACTTTTTTTTTTTTTTTTT
n.3296-10_3296-9insTAAAACTTTTTTTTTTTTTTTTT
n.3995_3996insGTTTTAAAAAAAAAAAAAAAAAA
n.4257_4258insGTTTTAAAAAAAAAAAAAAAAAA
c.4002-10_4002-9insTAAAACTTTTTTTTTTTTTTTTT (n.4002-10_4002-9insTAAAACTTTTTTTTTTTTTTTTT)
c.3612-10_3612-9insTAAAACTTTTTTTTTTTTTTTTT (n.3612-10_3612-9insTAAAACTTTTTTTTTTTTTTTTT)
c.169+1442_169+1443insGTTTTAAAAAAAAAAAAAAAAAA (n.169+1442_169+1443insGTTTTAAAAAAAAAAAAAAAAAA)
c.*124+1241_*124+1242insGTTTTAAAAAAAAAAAAAAAAAA (n.*124+1241_*124+1242insGTTTTAAAAAAAAAAAAAAAAAA)
c.*3349-10_*3349-9insTAAAACTTTTTTTTTTTTTTTTT (n.*3349-10_*3349-9insTAAAACTTTTTTTTTTTTTTTTT)
n.3157_3158insGTTTTAAAAAAAAAAAAAAAAAA
c.3096-10_3096-9insTAAAACTTTTTTTTTTTTTTTTT (n.3096-10_3096-9insTAAAACTTTTTTTTTTTTTTTTT)
c.903-10_903-9insTAAAACTTTTTTTTTTTTTTTTT (n.903-10_903-9insTAAAACTTTTTTTTTTTTTTTTT)
c.3819-10_3819-9insTAAAACTTTTTTTTTTTTTTTTT (n.3819-10_3819-9insTAAAACTTTTTTTTTTTTTTTTT)
c.4095-10_4095-9insTAAAACTTTTTTTTTTTTTTTTT (n.4095-10_4095-9insTAAAACTTTTTTTTTTTTTTTTT)
c.3912-10_3912-9insTAAAACTTTTTTTTTTTTTTTTT (n.3912-10_3912-9insTAAAACTTTTTTTTTTTTTTTTT)
c.3798-10_3798-9insTAAAACTTTTTTTTTTTTTTTTT (n.3798-10_3798-9insTAAAACTTTTTTTTTTTTTTTTT)
c.3189-10_3189-9insTAAAACTTTTTTTTTTTTTTTTT (n.3189-10_3189-9insTAAAACTTTTTTTTTTTTTTTTT)
gnomAD v4
2g.47806769_47806770insTTAAAACTTTTTTTTTTTTTTTTTCA2658969960FBXO11,MSH6c.3705-10_3705-9insTTAAAACTTTTTTTTTTTTTTTTT (n.3705-10_3705-9insTTAAAACTTTTTTTTTTTTTTTTT)
c.3618-10_3618-9insTTAAAACTTTTTTTTTTTTTTTTT (n.3618-10_3618-9insTTAAAACTTTTTTTTTTTTTTTTT)
n.4676-10_4676-9insTTAAAACTTTTTTTTTTTTTTTTT
c.2436-10_2436-9insTTAAAACTTTTTTTTTTTTTTTTT (n.2436-10_2436-9insTTAAAACTTTTTTTTTTTTTTTTT)
c.4008-10_4008-9insTTAAAACTTTTTTTTTTTTTTTTT (n.4008-10_4008-9insTTAAAACTTTTTTTTTTTTTTTTT)
c.1457-10_1457-9insTTAAAACTTTTTTTTTTTTTTTTT (n.1457-10_1457-9insTTAAAACTTTTTTTTTTTTTTTTT)
c.2775-10_2775-9insTTAAAACTTTTTTTTTTTTTTTTT (n.2775-10_2775-9insTTAAAACTTTTTTTTTTTTTTTTT)
n.2970_2971insTTAAAACTTTTTTTTTTTTTTTTT
n.2597-10_2597-9insTTAAAACTTTTTTTTTTTTTTTTT
n.2264-10_2264-9insTTAAAACTTTTTTTTTTTTTTTTT
n.2666-10_2666-9insTTAAAACTTTTTTTTTTTTTTTTT
n.1411-10_1411-9insTTAAAACTTTTTTTTTTTTTTTTT
n.3296-10_3296-9insTTAAAACTTTTTTTTTTTTTTTTT
n.3995_3996insGTTTTAAAAAAAAAAAAAAAAAAA
n.4257_4258insGTTTTAAAAAAAAAAAAAAAAAAA
c.4002-10_4002-9insTTAAAACTTTTTTTTTTTTTTTTT (n.4002-10_4002-9insTTAAAACTTTTTTTTTTTTTTTTT)
c.3612-10_3612-9insTTAAAACTTTTTTTTTTTTTTTTT (n.3612-10_3612-9insTTAAAACTTTTTTTTTTTTTTTTT)
c.169+1442_169+1443insGTTTTAAAAAAAAAAAAAAAAAAA (n.169+1442_169+1443insGTTTTAAAAAAAAAAAAAAAAAAA)
c.*124+1241_*124+1242insGTTTTAAAAAAAAAAAAAAAAAAA (n.*124+1241_*124+1242insGTTTTAAAAAAAAAAAAAAAAAAA)
c.*3349-10_*3349-9insTTAAAACTTTTTTTTTTTTTTTTT (n.*3349-10_*3349-9insTTAAAACTTTTTTTTTTTTTTTTT)
n.3157_3158insGTTTTAAAAAAAAAAAAAAAAAAA
c.3096-10_3096-9insTTAAAACTTTTTTTTTTTTTTTTT (n.3096-10_3096-9insTTAAAACTTTTTTTTTTTTTTTTT)
c.903-10_903-9insTTAAAACTTTTTTTTTTTTTTTTT (n.903-10_903-9insTTAAAACTTTTTTTTTTTTTTTTT)
c.3819-10_3819-9insTTAAAACTTTTTTTTTTTTTTTTT (n.3819-10_3819-9insTTAAAACTTTTTTTTTTTTTTTTT)
c.4095-10_4095-9insTTAAAACTTTTTTTTTTTTTTTTT (n.4095-10_4095-9insTTAAAACTTTTTTTTTTTTTTTTT)
c.3912-10_3912-9insTTAAAACTTTTTTTTTTTTTTTTT (n.3912-10_3912-9insTTAAAACTTTTTTTTTTTTTTTTT)
c.3798-10_3798-9insTTAAAACTTTTTTTTTTTTTTTTT (n.3798-10_3798-9insTTAAAACTTTTTTTTTTTTTTTTT)
c.3189-10_3189-9insTTAAAACTTTTTTTTTTTTTTTTT (n.3189-10_3189-9insTTAAAACTTTTTTTTTTTTTTTTT)
gnomAD v4
2g.47806771_47806772insAAATTTTTTTTTTTTTTTTTAACA2658969968FBXO11,MSH6c.3705-8_3705-7insAAATTTTTTTTTTTTTTTTTAA (n.3705-8_3705-7insAAATTTTTTTTTTTTTTTTTAA)
c.3618-8_3618-7insAAATTTTTTTTTTTTTTTTTAA (n.3618-8_3618-7insAAATTTTTTTTTTTTTTTTTAA)
n.4676-8_4676-7insAAATTTTTTTTTTTTTTTTTAA
c.2436-8_2436-7insAAATTTTTTTTTTTTTTTTTAA (n.2436-8_2436-7insAAATTTTTTTTTTTTTTTTTAA)
c.4008-8_4008-7insAAATTTTTTTTTTTTTTTTTAA (n.4008-8_4008-7insAAATTTTTTTTTTTTTTTTTAA)
c.1457-8_1457-7insAAATTTTTTTTTTTTTTTTTAA (n.1457-8_1457-7insAAATTTTTTTTTTTTTTTTTAA)
c.2775-8_2775-7insAAATTTTTTTTTTTTTTTTTAA (n.2775-8_2775-7insAAATTTTTTTTTTTTTTTTTAA)
n.2972_2973insAAATTTTTTTTTTTTTTTTTAA
n.2597-8_2597-7insAAATTTTTTTTTTTTTTTTTAA
n.2264-8_2264-7insAAATTTTTTTTTTTTTTTTTAA
n.2666-8_2666-7insAAATTTTTTTTTTTTTTTTTAA
n.1411-8_1411-7insAAATTTTTTTTTTTTTTTTTAA
n.3296-8_3296-7insAAATTTTTTTTTTTTTTTTTAA
n.3995_3996insTTTTTAAAAAAAAAAAAAAAAA
n.4257_4258insTTTTTAAAAAAAAAAAAAAAAA
c.4002-8_4002-7insAAATTTTTTTTTTTTTTTTTAA (n.4002-8_4002-7insAAATTTTTTTTTTTTTTTTTAA)
c.3612-8_3612-7insAAATTTTTTTTTTTTTTTTTAA (n.3612-8_3612-7insAAATTTTTTTTTTTTTTTTTAA)
c.169+1442_169+1443insTTTTTAAAAAAAAAAAAAAAAA (n.169+1442_169+1443insTTTTTAAAAAAAAAAAAAAAAA)
c.*124+1241_*124+1242insTTTTTAAAAAAAAAAAAAAAAA (n.*124+1241_*124+1242insTTTTTAAAAAAAAAAAAAAAAA)
c.*3349-8_*3349-7insAAATTTTTTTTTTTTTTTTTAA (n.*3349-8_*3349-7insAAATTTTTTTTTTTTTTTTTAA)
n.3157_3158insTTTTTAAAAAAAAAAAAAAAAA
c.3096-8_3096-7insAAATTTTTTTTTTTTTTTTTAA (n.3096-8_3096-7insAAATTTTTTTTTTTTTTTTTAA)
c.903-8_903-7insAAATTTTTTTTTTTTTTTTTAA (n.903-8_903-7insAAATTTTTTTTTTTTTTTTTAA)
c.3819-8_3819-7insAAATTTTTTTTTTTTTTTTTAA (n.3819-8_3819-7insAAATTTTTTTTTTTTTTTTTAA)
c.4095-8_4095-7insAAATTTTTTTTTTTTTTTTTAA (n.4095-8_4095-7insAAATTTTTTTTTTTTTTTTTAA)
c.3912-8_3912-7insAAATTTTTTTTTTTTTTTTTAA (n.3912-8_3912-7insAAATTTTTTTTTTTTTTTTTAA)
c.3798-8_3798-7insAAATTTTTTTTTTTTTTTTTAA (n.3798-8_3798-7insAAATTTTTTTTTTTTTTTTTAA)
c.3189-8_3189-7insAAATTTTTTTTTTTTTTTTTAA (n.3189-8_3189-7insAAATTTTTTTTTTTTTTTTTAA)
gnomAD v4
2g.47806771_47806772insAACTTTTTTTTTTTTTTTTTAACA532705570FBXO11,MSH6c.3705-8_3705-7insAACTTTTTTTTTTTTTTTTTAA (n.3705-8_3705-7insAACTTTTTTTTTTTTTTTTTAA)
c.3618-8_3618-7insAACTTTTTTTTTTTTTTTTTAA (n.3618-8_3618-7insAACTTTTTTTTTTTTTTTTTAA)
n.4676-8_4676-7insAACTTTTTTTTTTTTTTTTTAA
c.2436-8_2436-7insAACTTTTTTTTTTTTTTTTTAA (n.2436-8_2436-7insAACTTTTTTTTTTTTTTTTTAA)
c.4008-8_4008-7insAACTTTTTTTTTTTTTTTTTAA (n.4008-8_4008-7insAACTTTTTTTTTTTTTTTTTAA)
c.1457-8_1457-7insAACTTTTTTTTTTTTTTTTTAA (n.1457-8_1457-7insAACTTTTTTTTTTTTTTTTTAA)
c.2775-8_2775-7insAACTTTTTTTTTTTTTTTTTAA (n.2775-8_2775-7insAACTTTTTTTTTTTTTTTTTAA)
n.2972_2973insAACTTTTTTTTTTTTTTTTTAA
n.2597-8_2597-7insAACTTTTTTTTTTTTTTTTTAA
n.2264-8_2264-7insAACTTTTTTTTTTTTTTTTTAA
n.2666-8_2666-7insAACTTTTTTTTTTTTTTTTTAA
n.1411-8_1411-7insAACTTTTTTTTTTTTTTTTTAA
n.3296-8_3296-7insAACTTTTTTTTTTTTTTTTTAA
n.3995_3996insGTTTTAAAAAAAAAAAAAAAAA
n.4257_4258insGTTTTAAAAAAAAAAAAAAAAA
c.4002-8_4002-7insAACTTTTTTTTTTTTTTTTTAA (n.4002-8_4002-7insAACTTTTTTTTTTTTTTTTTAA)
c.3612-8_3612-7insAACTTTTTTTTTTTTTTTTTAA (n.3612-8_3612-7insAACTTTTTTTTTTTTTTTTTAA)
c.169+1442_169+1443insGTTTTAAAAAAAAAAAAAAAAA (n.169+1442_169+1443insGTTTTAAAAAAAAAAAAAAAAA)
c.*124+1241_*124+1242insGTTTTAAAAAAAAAAAAAAAAA (n.*124+1241_*124+1242insGTTTTAAAAAAAAAAAAAAAAA)
c.*3349-8_*3349-7insAACTTTTTTTTTTTTTTTTTAA (n.*3349-8_*3349-7insAACTTTTTTTTTTTTTTTTTAA)
n.3157_3158insGTTTTAAAAAAAAAAAAAAAAA
c.3096-8_3096-7insAACTTTTTTTTTTTTTTTTTAA (n.3096-8_3096-7insAACTTTTTTTTTTTTTTTTTAA)
c.903-8_903-7insAACTTTTTTTTTTTTTTTTTAA (n.903-8_903-7insAACTTTTTTTTTTTTTTTTTAA)
c.3819-8_3819-7insAACTTTTTTTTTTTTTTTTTAA (n.3819-8_3819-7insAACTTTTTTTTTTTTTTTTTAA)
c.4095-8_4095-7insAACTTTTTTTTTTTTTTTTTAA (n.4095-8_4095-7insAACTTTTTTTTTTTTTTTTTAA)
c.3912-8_3912-7insAACTTTTTTTTTTTTTTTTTAA (n.3912-8_3912-7insAACTTTTTTTTTTTTTTTTTAA)
c.3798-8_3798-7insAACTTTTTTTTTTTTTTTTTAA (n.3798-8_3798-7insAACTTTTTTTTTTTTTTTTTAA)
c.3189-8_3189-7insAACTTTTTTTTTTTTTTTTTAA (n.3189-8_3189-7insAACTTTTTTTTTTTTTTTTTAA)
gnomAD v2 gnomAD v3 gnomAD v4
2g.47806771_47806772insAACATTTTTTTTTTTTTTTTTAACA2658969965FBXO11,MSH6c.3705-8_3705-7insAACATTTTTTTTTTTTTTTTTAA (n.3705-8_3705-7insAACATTTTTTTTTTTTTTTTTAA)
c.3618-8_3618-7insAACATTTTTTTTTTTTTTTTTAA (n.3618-8_3618-7insAACATTTTTTTTTTTTTTTTTAA)
n.4676-8_4676-7insAACATTTTTTTTTTTTTTTTTAA
c.2436-8_2436-7insAACATTTTTTTTTTTTTTTTTAA (n.2436-8_2436-7insAACATTTTTTTTTTTTTTTTTAA)
c.4008-8_4008-7insAACATTTTTTTTTTTTTTTTTAA (n.4008-8_4008-7insAACATTTTTTTTTTTTTTTTTAA)
c.1457-8_1457-7insAACATTTTTTTTTTTTTTTTTAA (n.1457-8_1457-7insAACATTTTTTTTTTTTTTTTTAA)
c.2775-8_2775-7insAACATTTTTTTTTTTTTTTTTAA (n.2775-8_2775-7insAACATTTTTTTTTTTTTTTTTAA)
n.2972_2973insAACATTTTTTTTTTTTTTTTTAA
n.2597-8_2597-7insAACATTTTTTTTTTTTTTTTTAA
n.2264-8_2264-7insAACATTTTTTTTTTTTTTTTTAA
n.2666-8_2666-7insAACATTTTTTTTTTTTTTTTTAA
n.1411-8_1411-7insAACATTTTTTTTTTTTTTTTTAA
n.3296-8_3296-7insAACATTTTTTTTTTTTTTTTTAA
n.3995_3996insTGTTTTAAAAAAAAAAAAAAAAA
n.4257_4258insTGTTTTAAAAAAAAAAAAAAAAA
c.4002-8_4002-7insAACATTTTTTTTTTTTTTTTTAA (n.4002-8_4002-7insAACATTTTTTTTTTTTTTTTTAA)
c.3612-8_3612-7insAACATTTTTTTTTTTTTTTTTAA (n.3612-8_3612-7insAACATTTTTTTTTTTTTTTTTAA)
c.169+1442_169+1443insTGTTTTAAAAAAAAAAAAAAAAA (n.169+1442_169+1443insTGTTTTAAAAAAAAAAAAAAAAA)
c.*124+1241_*124+1242insTGTTTTAAAAAAAAAAAAAAAAA (n.*124+1241_*124+1242insTGTTTTAAAAAAAAAAAAAAAAA)
c.*3349-8_*3349-7insAACATTTTTTTTTTTTTTTTTAA (n.*3349-8_*3349-7insAACATTTTTTTTTTTTTTTTTAA)
n.3157_3158insTGTTTTAAAAAAAAAAAAAAAAA
c.3096-8_3096-7insAACATTTTTTTTTTTTTTTTTAA (n.3096-8_3096-7insAACATTTTTTTTTTTTTTTTTAA)
c.903-8_903-7insAACATTTTTTTTTTTTTTTTTAA (n.903-8_903-7insAACATTTTTTTTTTTTTTTTTAA)
c.3819-8_3819-7insAACATTTTTTTTTTTTTTTTTAA (n.3819-8_3819-7insAACATTTTTTTTTTTTTTTTTAA)
c.4095-8_4095-7insAACATTTTTTTTTTTTTTTTTAA (n.4095-8_4095-7insAACATTTTTTTTTTTTTTTTTAA)
c.3912-8_3912-7insAACATTTTTTTTTTTTTTTTTAA (n.3912-8_3912-7insAACATTTTTTTTTTTTTTTTTAA)
c.3798-8_3798-7insAACATTTTTTTTTTTTTTTTTAA (n.3798-8_3798-7insAACATTTTTTTTTTTTTTTTTAA)
c.3189-8_3189-7insAACATTTTTTTTTTTTTTTTTAA (n.3189-8_3189-7insAACATTTTTTTTTTTTTTTTTAA)
gnomAD v4
2g.47806757_47806775delCA330592FBXO11,MSH6c.3705-22_3705-4del (n.3705-22_3705-4del)
c.3618-22_3618-4del (n.3618-22_3618-4del)
n.4676-22_4676-4del
c.2436-22_2436-4del (n.2436-22_2436-4del)
c.4008-22_4008-4del (n.4008-22_4008-4del)
c.1457-22_1457-4del (n.1457-22_1457-4del)
c.2775-22_2775-4del (n.2775-22_2775-4del)
n.2958_2976del
n.2597-22_2597-4del
n.2264-22_2264-4del
n.2666-22_2666-4del
n.1411-22_1411-4del
n.3296-22_3296-4del
n.3977_3995del
n.4239_4257del
c.4002-22_4002-4del (n.4002-22_4002-4del)
c.3612-22_3612-4del (n.3612-22_3612-4del)
c.169+1424_169+1442del (n.169+1424_169+1442del)
c.*124+1223_*124+1241del (n.*124+1223_*124+1241del)
c.*3349-22_*3349-4del (n.*3349-22_*3349-4del)
n.3139_3157del
c.3096-22_3096-4del (n.3096-22_3096-4del)
c.903-22_903-4del (n.903-22_903-4del)
c.3819-22_3819-4del (n.3819-22_3819-4del)
c.4095-22_4095-4del (n.4095-22_4095-4del)
c.3912-22_3912-4del (n.3912-22_3912-4del)
c.3798-22_3798-4del (n.3798-22_3798-4del)
c.3189-22_3189-4del (n.3189-22_3189-4del)
ClinVar dbSNP
2g.47806768_47806769insAAAACTTTTTTTTTTTTTTTCA532705573FBXO11,MSH6c.3705-11_3705-10insAAAACTTTTTTTTTTTTTTT (n.3705-11_3705-10insAAAACTTTTTTTTTTTTTTT)
c.3618-11_3618-10insAAAACTTTTTTTTTTTTTTT (n.3618-11_3618-10insAAAACTTTTTTTTTTTTTTT)
n.4676-11_4676-10insAAAACTTTTTTTTTTTTTTT
c.2436-11_2436-10insAAAACTTTTTTTTTTTTTTT (n.2436-11_2436-10insAAAACTTTTTTTTTTTTTTT)
c.4008-11_4008-10insAAAACTTTTTTTTTTTTTTT (n.4008-11_4008-10insAAAACTTTTTTTTTTTTTTT)
c.1457-11_1457-10insAAAACTTTTTTTTTTTTTTT (n.1457-11_1457-10insAAAACTTTTTTTTTTTTTTT)
c.2775-11_2775-10insAAAACTTTTTTTTTTTTTTT (n.2775-11_2775-10insAAAACTTTTTTTTTTTTTTT)
n.2969_2970insAAAACTTTTTTTTTTTTTTT
n.2597-11_2597-10insAAAACTTTTTTTTTTTTTTT
n.2264-11_2264-10insAAAACTTTTTTTTTTTTTTT
n.2666-11_2666-10insAAAACTTTTTTTTTTTTTTT
n.1411-11_1411-10insAAAACTTTTTTTTTTTTTTT
n.3296-11_3296-10insAAAACTTTTTTTTTTTTTTT
n.3994_3995insGTTTTAAAAAAAAAAAAAAA
n.4256_4257insGTTTTAAAAAAAAAAAAAAA
c.4002-11_4002-10insAAAACTTTTTTTTTTTTTTT (n.4002-11_4002-10insAAAACTTTTTTTTTTTTTTT)
c.3612-11_3612-10insAAAACTTTTTTTTTTTTTTT (n.3612-11_3612-10insAAAACTTTTTTTTTTTTTTT)
c.169+1441_169+1442insGTTTTAAAAAAAAAAAAAAA (n.169+1441_169+1442insGTTTTAAAAAAAAAAAAAAA)
c.*124+1240_*124+1241insGTTTTAAAAAAAAAAAAAAA (n.*124+1240_*124+1241insGTTTTAAAAAAAAAAAAAAA)
c.*3349-11_*3349-10insAAAACTTTTTTTTTTTTTTT (n.*3349-11_*3349-10insAAAACTTTTTTTTTTTTTTT)
n.3156_3157insGTTTTAAAAAAAAAAAAAAA
c.3096-11_3096-10insAAAACTTTTTTTTTTTTTTT (n.3096-11_3096-10insAAAACTTTTTTTTTTTTTTT)
c.903-11_903-10insAAAACTTTTTTTTTTTTTTT (n.903-11_903-10insAAAACTTTTTTTTTTTTTTT)
c.3819-11_3819-10insAAAACTTTTTTTTTTTTTTT (n.3819-11_3819-10insAAAACTTTTTTTTTTTTTTT)
c.4095-11_4095-10insAAAACTTTTTTTTTTTTTTT (n.4095-11_4095-10insAAAACTTTTTTTTTTTTTTT)
c.3912-11_3912-10insAAAACTTTTTTTTTTTTTTT (n.3912-11_3912-10insAAAACTTTTTTTTTTTTTTT)
c.3798-11_3798-10insAAAACTTTTTTTTTTTTTTT (n.3798-11_3798-10insAAAACTTTTTTTTTTTTTTT)
c.3189-11_3189-10insAAAACTTTTTTTTTTTTTTT (n.3189-11_3189-10insAAAACTTTTTTTTTTTTTTT)
dbSNP gnomAD v2 gnomAD v4
2g.47806768_47806769insAAAAACTTTTTTTTTTTTTTTCA2658970018FBXO11,MSH6c.3705-11_3705-10insAAAAACTTTTTTTTTTTTTTT (n.3705-11_3705-10insAAAAACTTTTTTTTTTTTTTT)
c.3618-11_3618-10insAAAAACTTTTTTTTTTTTTTT (n.3618-11_3618-10insAAAAACTTTTTTTTTTTTTTT)
n.4676-11_4676-10insAAAAACTTTTTTTTTTTTTTT
c.2436-11_2436-10insAAAAACTTTTTTTTTTTTTTT (n.2436-11_2436-10insAAAAACTTTTTTTTTTTTTTT)
c.4008-11_4008-10insAAAAACTTTTTTTTTTTTTTT (n.4008-11_4008-10insAAAAACTTTTTTTTTTTTTTT)
c.1457-11_1457-10insAAAAACTTTTTTTTTTTTTTT (n.1457-11_1457-10insAAAAACTTTTTTTTTTTTTTT)
c.2775-11_2775-10insAAAAACTTTTTTTTTTTTTTT (n.2775-11_2775-10insAAAAACTTTTTTTTTTTTTTT)
n.2969_2970insAAAAACTTTTTTTTTTTTTTT
n.2597-11_2597-10insAAAAACTTTTTTTTTTTTTTT
n.2264-11_2264-10insAAAAACTTTTTTTTTTTTTTT
n.2666-11_2666-10insAAAAACTTTTTTTTTTTTTTT
n.1411-11_1411-10insAAAAACTTTTTTTTTTTTTTT
n.3296-11_3296-10insAAAAACTTTTTTTTTTTTTTT
n.3994_3995insGTTTTTAAAAAAAAAAAAAAA
n.4256_4257insGTTTTTAAAAAAAAAAAAAAA
c.4002-11_4002-10insAAAAACTTTTTTTTTTTTTTT (n.4002-11_4002-10insAAAAACTTTTTTTTTTTTTTT)
c.3612-11_3612-10insAAAAACTTTTTTTTTTTTTTT (n.3612-11_3612-10insAAAAACTTTTTTTTTTTTTTT)
c.169+1441_169+1442insGTTTTTAAAAAAAAAAAAAAA (n.169+1441_169+1442insGTTTTTAAAAAAAAAAAAAAA)
c.*124+1240_*124+1241insGTTTTTAAAAAAAAAAAAAAA (n.*124+1240_*124+1241insGTTTTTAAAAAAAAAAAAAAA)
c.*3349-11_*3349-10insAAAAACTTTTTTTTTTTTTTT (n.*3349-11_*3349-10insAAAAACTTTTTTTTTTTTTTT)
n.3156_3157insGTTTTTAAAAAAAAAAAAAAA
c.3096-11_3096-10insAAAAACTTTTTTTTTTTTTTT (n.3096-11_3096-10insAAAAACTTTTTTTTTTTTTTT)
c.903-11_903-10insAAAAACTTTTTTTTTTTTTTT (n.903-11_903-10insAAAAACTTTTTTTTTTTTTTT)
c.3819-11_3819-10insAAAAACTTTTTTTTTTTTTTT (n.3819-11_3819-10insAAAAACTTTTTTTTTTTTTTT)
c.4095-11_4095-10insAAAAACTTTTTTTTTTTTTTT (n.4095-11_4095-10insAAAAACTTTTTTTTTTTTTTT)
c.3912-11_3912-10insAAAAACTTTTTTTTTTTTTTT (n.3912-11_3912-10insAAAAACTTTTTTTTTTTTTTT)
c.3798-11_3798-10insAAAAACTTTTTTTTTTTTTTT (n.3798-11_3798-10insAAAAACTTTTTTTTTTTTTTT)
c.3189-11_3189-10insAAAAACTTTTTTTTTTTTTTT (n.3189-11_3189-10insAAAAACTTTTTTTTTTTTTTT)
gnomAD v4
2g.47806771_47806772insAAATTTTTTTTTTTTTTTTAACA2658970024FBXO11,MSH6c.3705-8_3705-7insAAATTTTTTTTTTTTTTTTAA (n.3705-8_3705-7insAAATTTTTTTTTTTTTTTTAA)
c.3618-8_3618-7insAAATTTTTTTTTTTTTTTTAA (n.3618-8_3618-7insAAATTTTTTTTTTTTTTTTAA)
n.4676-8_4676-7insAAATTTTTTTTTTTTTTTTAA
c.2436-8_2436-7insAAATTTTTTTTTTTTTTTTAA (n.2436-8_2436-7insAAATTTTTTTTTTTTTTTTAA)
c.4008-8_4008-7insAAATTTTTTTTTTTTTTTTAA (n.4008-8_4008-7insAAATTTTTTTTTTTTTTTTAA)
c.1457-8_1457-7insAAATTTTTTTTTTTTTTTTAA (n.1457-8_1457-7insAAATTTTTTTTTTTTTTTTAA)
c.2775-8_2775-7insAAATTTTTTTTTTTTTTTTAA (n.2775-8_2775-7insAAATTTTTTTTTTTTTTTTAA)
n.2972_2973insAAATTTTTTTTTTTTTTTTAA
n.2597-8_2597-7insAAATTTTTTTTTTTTTTTTAA
n.2264-8_2264-7insAAATTTTTTTTTTTTTTTTAA
n.2666-8_2666-7insAAATTTTTTTTTTTTTTTTAA
n.1411-8_1411-7insAAATTTTTTTTTTTTTTTTAA
n.3296-8_3296-7insAAATTTTTTTTTTTTTTTTAA
n.3994_3995insTTTTTAAAAAAAAAAAAAAAA
n.4256_4257insTTTTTAAAAAAAAAAAAAAAA
c.4002-8_4002-7insAAATTTTTTTTTTTTTTTTAA (n.4002-8_4002-7insAAATTTTTTTTTTTTTTTTAA)
c.3612-8_3612-7insAAATTTTTTTTTTTTTTTTAA (n.3612-8_3612-7insAAATTTTTTTTTTTTTTTTAA)
c.169+1441_169+1442insTTTTTAAAAAAAAAAAAAAAA (n.169+1441_169+1442insTTTTTAAAAAAAAAAAAAAAA)
c.*124+1240_*124+1241insTTTTTAAAAAAAAAAAAAAAA (n.*124+1240_*124+1241insTTTTTAAAAAAAAAAAAAAAA)
c.*3349-8_*3349-7insAAATTTTTTTTTTTTTTTTAA (n.*3349-8_*3349-7insAAATTTTTTTTTTTTTTTTAA)
n.3156_3157insTTTTTAAAAAAAAAAAAAAAA
c.3096-8_3096-7insAAATTTTTTTTTTTTTTTTAA (n.3096-8_3096-7insAAATTTTTTTTTTTTTTTTAA)
c.903-8_903-7insAAATTTTTTTTTTTTTTTTAA (n.903-8_903-7insAAATTTTTTTTTTTTTTTTAA)
c.3819-8_3819-7insAAATTTTTTTTTTTTTTTTAA (n.3819-8_3819-7insAAATTTTTTTTTTTTTTTTAA)
c.4095-8_4095-7insAAATTTTTTTTTTTTTTTTAA (n.4095-8_4095-7insAAATTTTTTTTTTTTTTTTAA)
c.3912-8_3912-7insAAATTTTTTTTTTTTTTTTAA (n.3912-8_3912-7insAAATTTTTTTTTTTTTTTTAA)
c.3798-8_3798-7insAAATTTTTTTTTTTTTTTTAA (n.3798-8_3798-7insAAATTTTTTTTTTTTTTTTAA)
c.3189-8_3189-7insAAATTTTTTTTTTTTTTTTAA (n.3189-8_3189-7insAAATTTTTTTTTTTTTTTTAA)
gnomAD v4
2g.47806771_47806772insAACTTTTTTTTTTTTTTTTAACA1649508FBXO11,MSH6c.3705-8_3705-7insAACTTTTTTTTTTTTTTTTAA (n.3705-8_3705-7insAACTTTTTTTTTTTTTTTTAA)
c.3618-8_3618-7insAACTTTTTTTTTTTTTTTTAA (n.3618-8_3618-7insAACTTTTTTTTTTTTTTTTAA)
n.4676-8_4676-7insAACTTTTTTTTTTTTTTTTAA
c.2436-8_2436-7insAACTTTTTTTTTTTTTTTTAA (n.2436-8_2436-7insAACTTTTTTTTTTTTTTTTAA)
c.4008-8_4008-7insAACTTTTTTTTTTTTTTTTAA (n.4008-8_4008-7insAACTTTTTTTTTTTTTTTTAA)
c.1457-8_1457-7insAACTTTTTTTTTTTTTTTTAA (n.1457-8_1457-7insAACTTTTTTTTTTTTTTTTAA)
c.2775-8_2775-7insAACTTTTTTTTTTTTTTTTAA (n.2775-8_2775-7insAACTTTTTTTTTTTTTTTTAA)
n.2972_2973insAACTTTTTTTTTTTTTTTTAA
n.2597-8_2597-7insAACTTTTTTTTTTTTTTTTAA
n.2264-8_2264-7insAACTTTTTTTTTTTTTTTTAA
n.2666-8_2666-7insAACTTTTTTTTTTTTTTTTAA
n.1411-8_1411-7insAACTTTTTTTTTTTTTTTTAA
n.3296-8_3296-7insAACTTTTTTTTTTTTTTTTAA
n.3994_3995insGTTTTAAAAAAAAAAAAAAAA
n.4256_4257insGTTTTAAAAAAAAAAAAAAAA
c.4002-8_4002-7insAACTTTTTTTTTTTTTTTTAA (n.4002-8_4002-7insAACTTTTTTTTTTTTTTTTAA)
c.3612-8_3612-7insAACTTTTTTTTTTTTTTTTAA (n.3612-8_3612-7insAACTTTTTTTTTTTTTTTTAA)
c.169+1441_169+1442insGTTTTAAAAAAAAAAAAAAAA (n.169+1441_169+1442insGTTTTAAAAAAAAAAAAAAAA)
c.*124+1240_*124+1241insGTTTTAAAAAAAAAAAAAAAA (n.*124+1240_*124+1241insGTTTTAAAAAAAAAAAAAAAA)
c.*3349-8_*3349-7insAACTTTTTTTTTTTTTTTTAA (n.*3349-8_*3349-7insAACTTTTTTTTTTTTTTTTAA)
n.3156_3157insGTTTTAAAAAAAAAAAAAAAA
c.3096-8_3096-7insAACTTTTTTTTTTTTTTTTAA (n.3096-8_3096-7insAACTTTTTTTTTTTTTTTTAA)
c.903-8_903-7insAACTTTTTTTTTTTTTTTTAA (n.903-8_903-7insAACTTTTTTTTTTTTTTTTAA)
c.3819-8_3819-7insAACTTTTTTTTTTTTTTTTAA (n.3819-8_3819-7insAACTTTTTTTTTTTTTTTTAA)
c.4095-8_4095-7insAACTTTTTTTTTTTTTTTTAA (n.4095-8_4095-7insAACTTTTTTTTTTTTTTTTAA)
c.3912-8_3912-7insAACTTTTTTTTTTTTTTTTAA (n.3912-8_3912-7insAACTTTTTTTTTTTTTTTTAA)
c.3798-8_3798-7insAACTTTTTTTTTTTTTTTTAA (n.3798-8_3798-7insAACTTTTTTTTTTTTTTTTAA)
c.3189-8_3189-7insAACTTTTTTTTTTTTTTTTAA (n.3189-8_3189-7insAACTTTTTTTTTTTTTTTTAA)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.47806775_47806776insTGCACTATGAAAAAACAAAAAAACTTTTTTTTTTTTTTTTAATTTTCA2658970014FBXO11,MSH6c.3705-4_3705-3insTGCACTATGAAAAAACAAAAAAACTTTTTTTTTTTTTTTTAATTTT (n.3705-4_3705-3insTGCACTATGAAAAAACAAAAAAACTTTTTTTTTTTTTTTTAATTTT)
c.3618-4_3618-3insTGCACTATGAAAAAACAAAAAAACTTTTTTTTTTTTTTTTAATTTT (n.3618-4_3618-3insTGCACTATGAAAAAACAAAAAAACTTTTTTTTTTTTTTTTAATTTT)
n.4676-4_4676-3insTGCACTATGAAAAAACAAAAAAACTTTTTTTTTTTTTTTTAATTTT
c.2436-4_2436-3insTGCACTATGAAAAAACAAAAAAACTTTTTTTTTTTTTTTTAATTTT (n.2436-4_2436-3insTGCACTATGAAAAAACAAAAAAACTTTTTTTTTTTTTTTTAATTTT)
c.4008-4_4008-3insTGCACTATGAAAAAACAAAAAAACTTTTTTTTTTTTTTTTAATTTT (n.4008-4_4008-3insTGCACTATGAAAAAACAAAAAAACTTTTTTTTTTTTTTTTAATTTT)
c.1457-4_1457-3insTGCACTATGAAAAAACAAAAAAACTTTTTTTTTTTTTTTTAATTTT (n.1457-4_1457-3insTGCACTATGAAAAAACAAAAAAACTTTTTTTTTTTTTTTTAATTTT)
c.2775-4_2775-3insTGCACTATGAAAAAACAAAAAAACTTTTTTTTTTTTTTTTAATTTT (n.2775-4_2775-3insTGCACTATGAAAAAACAAAAAAACTTTTTTTTTTTTTTTTAATTTT)
n.2976_2977insTGCACTATGAAAAAACAAAAAAACTTTTTTTTTTTTTTTTAATTTT
n.2597-4_2597-3insTGCACTATGAAAAAACAAAAAAACTTTTTTTTTTTTTTTTAATTTT
n.2264-4_2264-3insTGCACTATGAAAAAACAAAAAAACTTTTTTTTTTTTTTTTAATTTT
n.2666-4_2666-3insTGCACTATGAAAAAACAAAAAAACTTTTTTTTTTTTTTTTAATTTT
n.1411-4_1411-3insTGCACTATGAAAAAACAAAAAAACTTTTTTTTTTTTTTTTAATTTT
n.3296-4_3296-3insTGCACTATGAAAAAACAAAAAAACTTTTTTTTTTTTTTTTAATTTT
n.3994_3995insGTTTTTTTGTTTTTTCATAGTGCAAAAATTAAAAAAAAAAAAAAAA
n.4256_4257insGTTTTTTTGTTTTTTCATAGTGCAAAAATTAAAAAAAAAAAAAAAA
c.4002-4_4002-3insTGCACTATGAAAAAACAAAAAAACTTTTTTTTTTTTTTTTAATTTT (n.4002-4_4002-3insTGCACTATGAAAAAACAAAAAAACTTTTTTTTTTTTTTTTAATTTT)
c.3612-4_3612-3insTGCACTATGAAAAAACAAAAAAACTTTTTTTTTTTTTTTTAATTTT (n.3612-4_3612-3insTGCACTATGAAAAAACAAAAAAACTTTTTTTTTTTTTTTTAATTTT)
c.169+1441_169+1442insGTTTTTTTGTTTTTTCATAGTGCAAAAATTAAAAAAAAAAAAAAAA (n.169+1441_169+1442insGTTTTTTTGTTTTTTCATAGTGCAAAAATTAAAAAAAAAAAAAAAA)
c.*124+1240_*124+1241insGTTTTTTTGTTTTTTCATAGTGCAAAAATTAAAAAAAAAAAAAAAA (n.*124+1240_*124+1241insGTTTTTTTGTTTTTTCATAGTGCAAAAATTAAAAAAAAAAAAAAAA)
c.*3349-4_*3349-3insTGCACTATGAAAAAACAAAAAAACTTTTTTTTTTTTTTTTAATTTT (n.*3349-4_*3349-3insTGCACTATGAAAAAACAAAAAAACTTTTTTTTTTTTTTTTAATTTT)
n.3156_3157insGTTTTTTTGTTTTTTCATAGTGCAAAAATTAAAAAAAAAAAAAAAA
c.3096-4_3096-3insTGCACTATGAAAAAACAAAAAAACTTTTTTTTTTTTTTTTAATTTT (n.3096-4_3096-3insTGCACTATGAAAAAACAAAAAAACTTTTTTTTTTTTTTTTAATTTT)
c.903-4_903-3insTGCACTATGAAAAAACAAAAAAACTTTTTTTTTTTTTTTTAATTTT (n.903-4_903-3insTGCACTATGAAAAAACAAAAAAACTTTTTTTTTTTTTTTTAATTTT)
c.3819-4_3819-3insTGCACTATGAAAAAACAAAAAAACTTTTTTTTTTTTTTTTAATTTT (n.3819-4_3819-3insTGCACTATGAAAAAACAAAAAAACTTTTTTTTTTTTTTTTAATTTT)
c.4095-4_4095-3insTGCACTATGAAAAAACAAAAAAACTTTTTTTTTTTTTTTTAATTTT (n.4095-4_4095-3insTGCACTATGAAAAAACAAAAAAACTTTTTTTTTTTTTTTTAATTTT)
c.3912-4_3912-3insTGCACTATGAAAAAACAAAAAAACTTTTTTTTTTTTTTTTAATTTT (n.3912-4_3912-3insTGCACTATGAAAAAACAAAAAAACTTTTTTTTTTTTTTTTAATTTT)
c.3798-4_3798-3insTGCACTATGAAAAAACAAAAAAACTTTTTTTTTTTTTTTTAATTTT (n.3798-4_3798-3insTGCACTATGAAAAAACAAAAAAACTTTTTTTTTTTTTTTTAATTTT)
c.3189-4_3189-3insTGCACTATGAAAAAACAAAAAAACTTTTTTTTTTTTTTTTAATTTT (n.3189-4_3189-3insTGCACTATGAAAAAACAAAAAAACTTTTTTTTTTTTTTTTAATTTT)
gnomAD v4
2g.47806754_47806777delCA2658970012FBXO11,MSH6c.3705-25_3705-2del (n.3705-25_3705-2del)
c.3618-25_3618-2del (n.3618-25_3618-2del)
n.4676-25_4676-2del
c.2436-25_2436-2del (n.2436-25_2436-2del)
c.4008-25_4008-2del (n.4008-25_4008-2del)
c.1457-25_1457-2del (n.1457-25_1457-2del)
c.2775-25_2775-2del (n.2775-25_2775-2del)
n.2955_2978del
n.2597-25_2597-2del
n.2264-25_2264-2del
n.2666-25_2666-2del
n.1411-25_1411-2del
n.3296-25_3296-2del
n.3971_3994del
n.4233_4256del
c.4002-25_4002-2del (n.4002-25_4002-2del)
c.3612-25_3612-2del (n.3612-25_3612-2del)
c.169+1418_169+1441del (n.169+1418_169+1441del)
c.*124+1217_*124+1240del (n.*124+1217_*124+1240del)
c.*3349-25_*3349-2del (n.*3349-25_*3349-2del)
n.3133_3156del
c.3096-25_3096-2del (n.3096-25_3096-2del)
c.903-25_903-2del (n.903-25_903-2del)
c.3819-25_3819-2del (n.3819-25_3819-2del)
c.4095-25_4095-2del (n.4095-25_4095-2del)
c.3912-25_3912-2del (n.3912-25_3912-2del)
c.3798-25_3798-2del (n.3798-25_3798-2del)
c.3189-25_3189-2del (n.3189-25_3189-2del)
gnomAD v4
2g.47806768_47806769insAAAACTTTTTTTTTTTTTTCA2658970031FBXO11,MSH6c.3705-11_3705-10insAAAACTTTTTTTTTTTTTT (n.3705-11_3705-10insAAAACTTTTTTTTTTTTTT)
c.3618-11_3618-10insAAAACTTTTTTTTTTTTTT (n.3618-11_3618-10insAAAACTTTTTTTTTTTTTT)
n.4676-11_4676-10insAAAACTTTTTTTTTTTTTT
c.2436-11_2436-10insAAAACTTTTTTTTTTTTTT (n.2436-11_2436-10insAAAACTTTTTTTTTTTTTT)
c.4008-11_4008-10insAAAACTTTTTTTTTTTTTT (n.4008-11_4008-10insAAAACTTTTTTTTTTTTTT)
c.1457-11_1457-10insAAAACTTTTTTTTTTTTTT (n.1457-11_1457-10insAAAACTTTTTTTTTTTTTT)
c.2775-11_2775-10insAAAACTTTTTTTTTTTTTT (n.2775-11_2775-10insAAAACTTTTTTTTTTTTTT)
n.2969_2970insAAAACTTTTTTTTTTTTTT
n.2597-11_2597-10insAAAACTTTTTTTTTTTTTT
n.2264-11_2264-10insAAAACTTTTTTTTTTTTTT
n.2666-11_2666-10insAAAACTTTTTTTTTTTTTT
n.1411-11_1411-10insAAAACTTTTTTTTTTTTTT
n.3296-11_3296-10insAAAACTTTTTTTTTTTTTT
n.3993_3994insGTTTTAAAAAAAAAAAAAA
n.4255_4256insGTTTTAAAAAAAAAAAAAA
c.4002-11_4002-10insAAAACTTTTTTTTTTTTTT (n.4002-11_4002-10insAAAACTTTTTTTTTTTTTT)
c.3612-11_3612-10insAAAACTTTTTTTTTTTTTT (n.3612-11_3612-10insAAAACTTTTTTTTTTTTTT)
c.169+1440_169+1441insGTTTTAAAAAAAAAAAAAA (n.169+1440_169+1441insGTTTTAAAAAAAAAAAAAA)
c.*124+1239_*124+1240insGTTTTAAAAAAAAAAAAAA (n.*124+1239_*124+1240insGTTTTAAAAAAAAAAAAAA)
c.*3349-11_*3349-10insAAAACTTTTTTTTTTTTTT (n.*3349-11_*3349-10insAAAACTTTTTTTTTTTTTT)
n.3155_3156insGTTTTAAAAAAAAAAAAAA
c.3096-11_3096-10insAAAACTTTTTTTTTTTTTT (n.3096-11_3096-10insAAAACTTTTTTTTTTTTTT)
c.903-11_903-10insAAAACTTTTTTTTTTTTTT (n.903-11_903-10insAAAACTTTTTTTTTTTTTT)
c.3819-11_3819-10insAAAACTTTTTTTTTTTTTT (n.3819-11_3819-10insAAAACTTTTTTTTTTTTTT)
c.4095-11_4095-10insAAAACTTTTTTTTTTTTTT (n.4095-11_4095-10insAAAACTTTTTTTTTTTTTT)
c.3912-11_3912-10insAAAACTTTTTTTTTTTTTT (n.3912-11_3912-10insAAAACTTTTTTTTTTTTTT)
c.3798-11_3798-10insAAAACTTTTTTTTTTTTTT (n.3798-11_3798-10insAAAACTTTTTTTTTTTTTT)
c.3189-11_3189-10insAAAACTTTTTTTTTTTTTT (n.3189-11_3189-10insAAAACTTTTTTTTTTTTTT)
gnomAD v4
2g.47806771_47806772insAACTTTTTTTTTTTTTTTAACA2658970033FBXO11,MSH6c.3705-8_3705-7insAACTTTTTTTTTTTTTTTAA (n.3705-8_3705-7insAACTTTTTTTTTTTTTTTAA)
c.3618-8_3618-7insAACTTTTTTTTTTTTTTTAA (n.3618-8_3618-7insAACTTTTTTTTTTTTTTTAA)
n.4676-8_4676-7insAACTTTTTTTTTTTTTTTAA
c.2436-8_2436-7insAACTTTTTTTTTTTTTTTAA (n.2436-8_2436-7insAACTTTTTTTTTTTTTTTAA)
c.4008-8_4008-7insAACTTTTTTTTTTTTTTTAA (n.4008-8_4008-7insAACTTTTTTTTTTTTTTTAA)
c.1457-8_1457-7insAACTTTTTTTTTTTTTTTAA (n.1457-8_1457-7insAACTTTTTTTTTTTTTTTAA)
c.2775-8_2775-7insAACTTTTTTTTTTTTTTTAA (n.2775-8_2775-7insAACTTTTTTTTTTTTTTTAA)
n.2972_2973insAACTTTTTTTTTTTTTTTAA
n.2597-8_2597-7insAACTTTTTTTTTTTTTTTAA
n.2264-8_2264-7insAACTTTTTTTTTTTTTTTAA
n.2666-8_2666-7insAACTTTTTTTTTTTTTTTAA
n.1411-8_1411-7insAACTTTTTTTTTTTTTTTAA
n.3296-8_3296-7insAACTTTTTTTTTTTTTTTAA
n.3993_3994insGTTTTAAAAAAAAAAAAAAA
n.4255_4256insGTTTTAAAAAAAAAAAAAAA
c.4002-8_4002-7insAACTTTTTTTTTTTTTTTAA (n.4002-8_4002-7insAACTTTTTTTTTTTTTTTAA)
c.3612-8_3612-7insAACTTTTTTTTTTTTTTTAA (n.3612-8_3612-7insAACTTTTTTTTTTTTTTTAA)
c.169+1440_169+1441insGTTTTAAAAAAAAAAAAAAA (n.169+1440_169+1441insGTTTTAAAAAAAAAAAAAAA)
c.*124+1239_*124+1240insGTTTTAAAAAAAAAAAAAAA (n.*124+1239_*124+1240insGTTTTAAAAAAAAAAAAAAA)
c.*3349-8_*3349-7insAACTTTTTTTTTTTTTTTAA (n.*3349-8_*3349-7insAACTTTTTTTTTTTTTTTAA)
n.3155_3156insGTTTTAAAAAAAAAAAAAAA
c.3096-8_3096-7insAACTTTTTTTTTTTTTTTAA (n.3096-8_3096-7insAACTTTTTTTTTTTTTTTAA)
c.903-8_903-7insAACTTTTTTTTTTTTTTTAA (n.903-8_903-7insAACTTTTTTTTTTTTTTTAA)
c.3819-8_3819-7insAACTTTTTTTTTTTTTTTAA (n.3819-8_3819-7insAACTTTTTTTTTTTTTTTAA)
c.4095-8_4095-7insAACTTTTTTTTTTTTTTTAA (n.4095-8_4095-7insAACTTTTTTTTTTTTTTTAA)
c.3912-8_3912-7insAACTTTTTTTTTTTTTTTAA (n.3912-8_3912-7insAACTTTTTTTTTTTTTTTAA)
c.3798-8_3798-7insAACTTTTTTTTTTTTTTTAA (n.3798-8_3798-7insAACTTTTTTTTTTTTTTTAA)
c.3189-8_3189-7insAACTTTTTTTTTTTTTTTAA (n.3189-8_3189-7insAACTTTTTTTTTTTTTTTAA)
gnomAD v4
2g.47806756_47806769delinsTTTTTTTTTTTTTTCA2496054492FBXO11,MSH6c.3705-23_3705-10delinsTTTTTTTTTTTTTT (n.3705-23_3705-10delinsTTTTTTTTTTTTTT)
c.3618-23_3618-10delinsTTTTTTTTTTTTTT (n.3618-23_3618-10delinsTTTTTTTTTTTTTT)
n.4676-23_4676-10delinsTTTTTTTTTTTTTT
c.2436-23_2436-10delinsTTTTTTTTTTTTTT (n.2436-23_2436-10delinsTTTTTTTTTTTTTT)
c.4008-23_4008-10delinsTTTTTTTTTTTTTT (n.4008-23_4008-10delinsTTTTTTTTTTTTTT)
c.1457-23_1457-10delinsTTTTTTTTTTTTTT (n.1457-23_1457-10delinsTTTTTTTTTTTTTT)
c.2775-23_2775-10delinsTTTTTTTTTTTTTT (n.2775-23_2775-10delinsTTTTTTTTTTTTTT)
n.2957_2970delinsTTTTTTTTTTTTTT
n.2597-23_2597-10delinsTTTTTTTTTTTTTT
n.2264-23_2264-10delinsTTTTTTTTTTTTTT
n.2666-23_2666-10delinsTTTTTTTTTTTTTT
n.1411-23_1411-10delinsTTTTTTTTTTTTTT
n.3296-23_3296-10delinsTTTTTTTTTTTTTT
n.3979_3992delinsAAAAAAAAAAAAAA
n.4241_4254delinsAAAAAAAAAAAAAA
c.4002-23_4002-10delinsTTTTTTTTTTTTTT (n.4002-23_4002-10delinsTTTTTTTTTTTTTT)
c.3612-23_3612-10delinsTTTTTTTTTTTTTT (n.3612-23_3612-10delinsTTTTTTTTTTTTTT)
c.169+1426_169+1439delinsAAAAAAAAAAAAAA (n.169+1426_169+1439delinsAAAAAAAAAAAAAA)
c.*124+1225_*124+1238delinsAAAAAAAAAAAAAA (n.*124+1225_*124+1238delinsAAAAAAAAAAAAAA)
c.*3349-23_*3349-10delinsTTTTTTTTTTTTTT (n.*3349-23_*3349-10delinsTTTTTTTTTTTTTT)
n.3141_3154delinsAAAAAAAAAAAAAA
c.3096-23_3096-10delinsTTTTTTTTTTTTTT (n.3096-23_3096-10delinsTTTTTTTTTTTTTT)
c.903-23_903-10delinsTTTTTTTTTTTTTT (n.903-23_903-10delinsTTTTTTTTTTTTTT)
c.3819-23_3819-10delinsTTTTTTTTTTTTTT (n.3819-23_3819-10delinsTTTTTTTTTTTTTT)
c.4095-23_4095-10delinsTTTTTTTTTTTTTT (n.4095-23_4095-10delinsTTTTTTTTTTTTTT)
c.3912-23_3912-10delinsTTTTTTTTTTTTTT (n.3912-23_3912-10delinsTTTTTTTTTTTTTT)
c.3798-23_3798-10delinsTTTTTTTTTTTTTT (n.3798-23_3798-10delinsTTTTTTTTTTTTTT)
c.3189-23_3189-10delinsTTTTTTTTTTTTTT (n.3189-23_3189-10delinsTTTTTTTTTTTTTT)
2g.47806767_47806768insAATTTTTTTTTTTCA2658970049FBXO11,MSH6c.3705-12_3705-11insAATTTTTTTTTTT (n.3705-12_3705-11insAATTTTTTTTTTT)
c.3618-12_3618-11insAATTTTTTTTTTT (n.3618-12_3618-11insAATTTTTTTTTTT)
n.4676-12_4676-11insAATTTTTTTTTTT
c.2436-12_2436-11insAATTTTTTTTTTT (n.2436-12_2436-11insAATTTTTTTTTTT)
c.4008-12_4008-11insAATTTTTTTTTTT (n.4008-12_4008-11insAATTTTTTTTTTT)
c.1457-12_1457-11insAATTTTTTTTTTT (n.1457-12_1457-11insAATTTTTTTTTTT)
c.2775-12_2775-11insAATTTTTTTTTTT (n.2775-12_2775-11insAATTTTTTTTTTT)
n.2968_2969insAATTTTTTTTTTT
n.2597-12_2597-11insAATTTTTTTTTTT
n.2264-12_2264-11insAATTTTTTTTTTT
n.2666-12_2666-11insAATTTTTTTTTTT
n.1411-12_1411-11insAATTTTTTTTTTT
n.3296-12_3296-11insAATTTTTTTTTTT
n.3991_3992insTTAAAAAAAAAAA
n.4253_4254insTTAAAAAAAAAAA
c.4002-12_4002-11insAATTTTTTTTTTT (n.4002-12_4002-11insAATTTTTTTTTTT)
c.3612-12_3612-11insAATTTTTTTTTTT (n.3612-12_3612-11insAATTTTTTTTTTT)
c.169+1438_169+1439insTTAAAAAAAAAAA (n.169+1438_169+1439insTTAAAAAAAAAAA)
c.*124+1237_*124+1238insTTAAAAAAAAAAA (n.*124+1237_*124+1238insTTAAAAAAAAAAA)
c.*3349-12_*3349-11insAATTTTTTTTTTT (n.*3349-12_*3349-11insAATTTTTTTTTTT)
n.3153_3154insTTAAAAAAAAAAA
c.3096-12_3096-11insAATTTTTTTTTTT (n.3096-12_3096-11insAATTTTTTTTTTT)
c.903-12_903-11insAATTTTTTTTTTT (n.903-12_903-11insAATTTTTTTTTTT)
c.3819-12_3819-11insAATTTTTTTTTTT (n.3819-12_3819-11insAATTTTTTTTTTT)
c.4095-12_4095-11insAATTTTTTTTTTT (n.4095-12_4095-11insAATTTTTTTTTTT)
c.3912-12_3912-11insAATTTTTTTTTTT (n.3912-12_3912-11insAATTTTTTTTTTT)
c.3798-12_3798-11insAATTTTTTTTTTT (n.3798-12_3798-11insAATTTTTTTTTTT)
c.3189-12_3189-11insAATTTTTTTTTTT (n.3189-12_3189-11insAATTTTTTTTTTT)
gnomAD v4
2g.47806757_47806769delinsAAGGGCA10582094FBXO11,MSH6c.3705-22_3705-10delinsAAGGG (n.3705-22_3705-10delinsAAGGG)
c.3618-22_3618-10delinsAAGGG (n.3618-22_3618-10delinsAAGGG)
n.4676-22_4676-10delinsAAGGG
c.2436-22_2436-10delinsAAGGG (n.2436-22_2436-10delinsAAGGG)
c.4008-22_4008-10delinsAAGGG (n.4008-22_4008-10delinsAAGGG)
c.1457-22_1457-10delinsAAGGG (n.1457-22_1457-10delinsAAGGG)
c.2775-22_2775-10delinsAAGGG (n.2775-22_2775-10delinsAAGGG)
n.2958_2970delinsAAGGG
n.2597-22_2597-10delinsAAGGG
n.2264-22_2264-10delinsAAGGG
n.2666-22_2666-10delinsAAGGG
n.1411-22_1411-10delinsAAGGG
n.3296-22_3296-10delinsAAGGG
n.3979_3991delinsCCCTT
n.4241_4253delinsCCCTT
c.4002-22_4002-10delinsAAGGG (n.4002-22_4002-10delinsAAGGG)
c.3612-22_3612-10delinsAAGGG (n.3612-22_3612-10delinsAAGGG)
c.169+1426_169+1438delinsCCCTT (n.169+1426_169+1438delinsCCCTT)
c.*124+1225_*124+1237delinsCCCTT (n.*124+1225_*124+1237delinsCCCTT)
c.*3349-22_*3349-10delinsAAGGG (n.*3349-22_*3349-10delinsAAGGG)
n.3141_3153delinsCCCTT
c.3096-22_3096-10delinsAAGGG (n.3096-22_3096-10delinsAAGGG)
c.903-22_903-10delinsAAGGG (n.903-22_903-10delinsAAGGG)
c.3819-22_3819-10delinsAAGGG (n.3819-22_3819-10delinsAAGGG)
c.4095-22_4095-10delinsAAGGG (n.4095-22_4095-10delinsAAGGG)
c.3912-22_3912-10delinsAAGGG (n.3912-22_3912-10delinsAAGGG)
c.3798-22_3798-10delinsAAGGG (n.3798-22_3798-10delinsAAGGG)
c.3189-22_3189-10delinsAAGGG (n.3189-22_3189-10delinsAAGGG)
ClinVar dbSNP
2g.47806761_47806775delCA2580067577FBXO11,MSH6c.3705-18_3705-4del (n.3705-18_3705-4del)
c.3618-18_3618-4del (n.3618-18_3618-4del)
n.4676-18_4676-4del
c.2436-18_2436-4del (n.2436-18_2436-4del)
c.4008-18_4008-4del (n.4008-18_4008-4del)
c.1457-18_1457-4del (n.1457-18_1457-4del)
c.2775-18_2775-4del (n.2775-18_2775-4del)
n.2962_2976del
n.2597-18_2597-4del
n.2264-18_2264-4del
n.2666-18_2666-4del
n.1411-18_1411-4del
n.3296-18_3296-4del
n.3977_3991del
n.4239_4253del
c.4002-18_4002-4del (n.4002-18_4002-4del)
c.3612-18_3612-4del (n.3612-18_3612-4del)
c.169+1424_169+1438del (n.169+1424_169+1438del)
c.*124+1223_*124+1237del (n.*124+1223_*124+1237del)
c.*3349-18_*3349-4del (n.*3349-18_*3349-4del)
n.3139_3153del
c.3096-18_3096-4del (n.3096-18_3096-4del)
c.903-18_903-4del (n.903-18_903-4del)
c.3819-18_3819-4del (n.3819-18_3819-4del)
c.4095-18_4095-4del (n.4095-18_4095-4del)
c.3912-18_3912-4del (n.3912-18_3912-4del)
c.3798-18_3798-4del (n.3798-18_3798-4del)
c.3189-18_3189-4del (n.3189-18_3189-4del)
ClinVar
2g.47806758_47806811delCA2580611344FBXO11,MSH6c.3705-21_3737del
c.3618-21_3650del
n.4676-21_4708del
c.2436-21_2468del
c.4008-21_4040del
c.1457-21_1489del
c.2775-21_2807del
n.2959_3012del
n.2597-21_2629del
n.2264-21_2296del
n.2666-21_2698del
n.1411-21_1443del
n.3296-21_3328del
n.3938_3991del
n.4200_4253del
c.4002-21_4034del
c.3612-21_3644del
c.169+1385_169+1438del (n.169+1385_169+1438del)
c.*124+1184_*124+1237del (n.*124+1184_*124+1237del)
c.*3349-21_*3381del
n.3100_3153del
c.3096-21_3128del
c.903-21_935del
c.3819-21_3851del
c.4095-21_4127del
c.3912-21_3944del
c.3798-21_3830del
c.3189-21_3221del
ClinVar
2g.47806759T>ACA2658970063FBXO11,MSH6c.3705-20T>A (n.3705-20T>A)
c.3618-20T>A (n.3618-20T>A)
n.4676-20T>A
c.2436-20T>A (n.2436-20T>A)
c.4008-20T>A (n.4008-20T>A)
c.1457-20T>A (n.1457-20T>A)
c.2775-20T>A (n.2775-20T>A)
n.2960T>A
n.2597-20T>A
n.2264-20T>A
n.2666-20T>A
n.1411-20T>A
n.3296-20T>A
n.3989A>T
n.4251A>T
c.4002-20T>A (n.4002-20T>A)
c.3612-20T>A (n.3612-20T>A)
c.169+1436A>T (n.169+1436A>T)
c.*124+1235A>T (n.*124+1235A>T)
c.*3349-20T>A (n.*3349-20T>A)
n.3151A>T
c.3096-20T>A (n.3096-20T>A)
c.903-20T>A (n.903-20T>A)
c.3819-20T>A (n.3819-20T>A)
c.4095-20T>A (n.4095-20T>A)
c.3912-20T>A (n.3912-20T>A)
c.3798-20T>A (n.3798-20T>A)
c.3189-20T>A (n.3189-20T>A)
gnomAD v4
2g.47806759T>CCA646644457FBXO11,MSH6c.3705-20T>C (n.3705-20T>C)
c.3618-20T>C (n.3618-20T>C)
n.4676-20T>C
c.2436-20T>C (n.2436-20T>C)
c.4008-20T>C (n.4008-20T>C)
c.1457-20T>C (n.1457-20T>C)
c.2775-20T>C (n.2775-20T>C)
n.2960T>C
n.2597-20T>C
n.2264-20T>C
n.2666-20T>C
n.1411-20T>C
n.3296-20T>C
n.3989A>G
n.4251A>G
c.4002-20T>C (n.4002-20T>C)
c.3612-20T>C (n.3612-20T>C)
c.169+1436A>G (n.169+1436A>G)
c.*124+1235A>G (n.*124+1235A>G)
c.*3349-20T>C (n.*3349-20T>C)
n.3151A>G
c.3096-20T>C (n.3096-20T>C)
c.903-20T>C (n.903-20T>C)
c.3819-20T>C (n.3819-20T>C)
c.4095-20T>C (n.4095-20T>C)
c.3912-20T>C (n.3912-20T>C)
c.3798-20T>C (n.3798-20T>C)
c.3189-20T>C (n.3189-20T>C)
COSMIC
2g.47806759T>GCA072632FBXO11,MSH6c.3705-20T>G (n.3705-20T>G)
c.3618-20T>G (n.3618-20T>G)
n.4676-20T>G
c.2436-20T>G (n.2436-20T>G)
c.4008-20T>G (n.4008-20T>G)
c.1457-20T>G (n.1457-20T>G)
c.2775-20T>G (n.2775-20T>G)
n.2960T>G
n.2597-20T>G
n.2264-20T>G
n.2666-20T>G
n.1411-20T>G
n.3296-20T>G
n.3989A>C
n.4251A>C
c.4002-20T>G (n.4002-20T>G)
c.3612-20T>G (n.3612-20T>G)
c.169+1436A>C (n.169+1436A>C)
c.*124+1235A>C (n.*124+1235A>C)
c.*3349-20T>G (n.*3349-20T>G)
n.3151A>C
c.3096-20T>G (n.3096-20T>G)
c.903-20T>G (n.903-20T>G)
c.3819-20T>G (n.3819-20T>G)
c.4095-20T>G (n.4095-20T>G)
c.3912-20T>G (n.3912-20T>G)
c.3798-20T>G (n.3798-20T>G)
c.3189-20T>G (n.3189-20T>G)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.47806759T=CA2496054496FBXO11,MSH6c.3705-20T= (n.3705-20T=)
c.3618-20T= (n.3618-20T=)
n.4676-20T=
c.2436-20T= (n.2436-20T=)
c.4008-20T= (n.4008-20T=)
c.1457-20T= (n.1457-20T=)
c.2775-20T= (n.2775-20T=)
n.2960T=
n.2597-20T=
n.2264-20T=
n.2666-20T=
n.1411-20T=
n.3296-20T=
n.3989A=
n.4251A=
c.4002-20T= (n.4002-20T=)
c.3612-20T= (n.3612-20T=)
c.169+1436A= (n.169+1436A=)
c.*124+1235A= (n.*124+1235A=)
c.*3349-20T= (n.*3349-20T=)
n.3151A=
c.3096-20T= (n.3096-20T=)
c.903-20T= (n.903-20T=)
c.3819-20T= (n.3819-20T=)
c.4095-20T= (n.4095-20T=)
c.3912-20T= (n.3912-20T=)
c.3798-20T= (n.3798-20T=)
c.3189-20T= (n.3189-20T=)
2g.47806771_47806772insAACTTTTTTTTTTTAACA2658970064FBXO11,MSH6c.3705-8_3705-7insAACTTTTTTTTTTTAA (n.3705-8_3705-7insAACTTTTTTTTTTTAA)
c.3618-8_3618-7insAACTTTTTTTTTTTAA (n.3618-8_3618-7insAACTTTTTTTTTTTAA)
n.4676-8_4676-7insAACTTTTTTTTTTTAA
c.2436-8_2436-7insAACTTTTTTTTTTTAA (n.2436-8_2436-7insAACTTTTTTTTTTTAA)
c.4008-8_4008-7insAACTTTTTTTTTTTAA (n.4008-8_4008-7insAACTTTTTTTTTTTAA)
c.1457-8_1457-7insAACTTTTTTTTTTTAA (n.1457-8_1457-7insAACTTTTTTTTTTTAA)
c.2775-8_2775-7insAACTTTTTTTTTTTAA (n.2775-8_2775-7insAACTTTTTTTTTTTAA)
n.2972_2973insAACTTTTTTTTTTTAA
n.2597-8_2597-7insAACTTTTTTTTTTTAA
n.2264-8_2264-7insAACTTTTTTTTTTTAA
n.2666-8_2666-7insAACTTTTTTTTTTTAA
n.1411-8_1411-7insAACTTTTTTTTTTTAA
n.3296-8_3296-7insAACTTTTTTTTTTTAA
n.3989_3990insGTTTTAAAAAAAAAAA
n.4251_4252insGTTTTAAAAAAAAAAA
c.4002-8_4002-7insAACTTTTTTTTTTTAA (n.4002-8_4002-7insAACTTTTTTTTTTTAA)
c.3612-8_3612-7insAACTTTTTTTTTTTAA (n.3612-8_3612-7insAACTTTTTTTTTTTAA)
c.169+1436_169+1437insGTTTTAAAAAAAAAAA (n.169+1436_169+1437insGTTTTAAAAAAAAAAA)
c.*124+1235_*124+1236insGTTTTAAAAAAAAAAA (n.*124+1235_*124+1236insGTTTTAAAAAAAAAAA)
c.*3349-8_*3349-7insAACTTTTTTTTTTTAA (n.*3349-8_*3349-7insAACTTTTTTTTTTTAA)
n.3151_3152insGTTTTAAAAAAAAAAA
c.3096-8_3096-7insAACTTTTTTTTTTTAA (n.3096-8_3096-7insAACTTTTTTTTTTTAA)
c.903-8_903-7insAACTTTTTTTTTTTAA (n.903-8_903-7insAACTTTTTTTTTTTAA)
c.3819-8_3819-7insAACTTTTTTTTTTTAA (n.3819-8_3819-7insAACTTTTTTTTTTTAA)
c.4095-8_4095-7insAACTTTTTTTTTTTAA (n.4095-8_4095-7insAACTTTTTTTTTTTAA)
c.3912-8_3912-7insAACTTTTTTTTTTTAA (n.3912-8_3912-7insAACTTTTTTTTTTTAA)
c.3798-8_3798-7insAACTTTTTTTTTTTAA (n.3798-8_3798-7insAACTTTTTTTTTTTAA)
c.3189-8_3189-7insAACTTTTTTTTTTTAA (n.3189-8_3189-7insAACTTTTTTTTTTTAA)
gnomAD v4
2g.47806760T>CCA015265FBXO11,MSH6c.3705-19T>C (n.3705-19T>C)
c.3618-19T>C (n.3618-19T>C)
n.4676-19T>C
c.2436-19T>C (n.2436-19T>C)
c.4008-19T>C (n.4008-19T>C)
c.1457-19T>C (n.1457-19T>C)
c.2775-19T>C (n.2775-19T>C)
n.2961T>C
n.2597-19T>C
n.2264-19T>C
n.2666-19T>C
n.1411-19T>C
n.3296-19T>C
n.3988A>G
n.4250A>G
c.4002-19T>C (n.4002-19T>C)
c.3612-19T>C (n.3612-19T>C)
c.169+1435A>G (n.169+1435A>G)
c.*124+1234A>G (n.*124+1234A>G)
c.*3349-19T>C (n.*3349-19T>C)
n.3150A>G
c.3096-19T>C (n.3096-19T>C)
c.903-19T>C (n.903-19T>C)
c.3819-19T>C (n.3819-19T>C)
c.4095-19T>C (n.4095-19T>C)
c.3912-19T>C (n.3912-19T>C)
c.3798-19T>C (n.3798-19T>C)
c.3189-19T>C (n.3189-19T>C)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.47806760T>GCA2576961635FBXO11,MSH6c.3705-19T>G (n.3705-19T>G)
c.3618-19T>G (n.3618-19T>G)
n.4676-19T>G
c.2436-19T>G (n.2436-19T>G)
c.4008-19T>G (n.4008-19T>G)
c.1457-19T>G (n.1457-19T>G)
c.2775-19T>G (n.2775-19T>G)
n.2961T>G
n.2597-19T>G
n.2264-19T>G
n.2666-19T>G
n.1411-19T>G
n.3296-19T>G
n.3988A>C
n.4250A>C
c.4002-19T>G (n.4002-19T>G)
c.3612-19T>G (n.3612-19T>G)
c.169+1435A>C (n.169+1435A>C)
c.*124+1234A>C (n.*124+1234A>C)
c.*3349-19T>G (n.*3349-19T>G)
n.3150A>C
c.3096-19T>G (n.3096-19T>G)
c.903-19T>G (n.903-19T>G)
c.3819-19T>G (n.3819-19T>G)
c.4095-19T>G (n.4095-19T>G)
c.3912-19T>G (n.3912-19T>G)
c.3798-19T>G (n.3798-19T>G)
c.3189-19T>G (n.3189-19T>G)
2g.47806760T=CA2496054497FBXO11,MSH6c.3705-19T= (n.3705-19T=)
c.3618-19T= (n.3618-19T=)
n.4676-19T=
c.2436-19T= (n.2436-19T=)
c.4008-19T= (n.4008-19T=)
c.1457-19T= (n.1457-19T=)
c.2775-19T= (n.2775-19T=)
n.2961T=
n.2597-19T=
n.2264-19T=
n.2666-19T=
n.1411-19T=
n.3296-19T=
n.3988A=
n.4250A=
c.4002-19T= (n.4002-19T=)
c.3612-19T= (n.3612-19T=)
c.169+1435A= (n.169+1435A=)
c.*124+1234A= (n.*124+1234A=)
c.*3349-19T= (n.*3349-19T=)
n.3150A=
c.3096-19T= (n.3096-19T=)
c.903-19T= (n.903-19T=)
c.3819-19T= (n.3819-19T=)
c.4095-19T= (n.4095-19T=)
c.3912-19T= (n.3912-19T=)
c.3798-19T= (n.3798-19T=)
c.3189-19T= (n.3189-19T=)
2g.47806760_47806761insCCA2699332943FBXO11,MSH6c.3705-19_3705-18insC (n.3705-19_3705-18insC)
c.3618-19_3618-18insC (n.3618-19_3618-18insC)
n.4676-19_4676-18insC
c.2436-19_2436-18insC (n.2436-19_2436-18insC)
c.4008-19_4008-18insC (n.4008-19_4008-18insC)
c.1457-19_1457-18insC (n.1457-19_1457-18insC)
c.2775-19_2775-18insC (n.2775-19_2775-18insC)
n.2961_2962insC
n.2597-19_2597-18insC
n.2264-19_2264-18insC
n.2666-19_2666-18insC
n.1411-19_1411-18insC
n.3296-19_3296-18insC
n.3987_3988insG
n.4249_4250insG
c.4002-19_4002-18insC (n.4002-19_4002-18insC)
c.3612-19_3612-18insC (n.3612-19_3612-18insC)
c.169+1434_169+1435insG (n.169+1434_169+1435insG)
c.*124+1233_*124+1234insG (n.*124+1233_*124+1234insG)
c.*3349-19_*3349-18insC (n.*3349-19_*3349-18insC)
n.3149_3150insG
c.3096-19_3096-18insC (n.3096-19_3096-18insC)
c.903-19_903-18insC (n.903-19_903-18insC)
c.3819-19_3819-18insC (n.3819-19_3819-18insC)
c.4095-19_4095-18insC (n.4095-19_4095-18insC)
c.3912-19_3912-18insC (n.3912-19_3912-18insC)
c.3798-19_3798-18insC (n.3798-19_3798-18insC)
c.3189-19_3189-18insC (n.3189-19_3189-18insC)
dbSNP
2g.47806761T>CCA658795765FBXO11,MSH6c.3705-18T>C (n.3705-18T>C)
c.3618-18T>C (n.3618-18T>C)
n.4676-18T>C
c.2436-18T>C (n.2436-18T>C)
c.4008-18T>C (n.4008-18T>C)
c.1457-18T>C (n.1457-18T>C)
c.2775-18T>C (n.2775-18T>C)
n.2962T>C
n.2597-18T>C
n.2264-18T>C
n.2666-18T>C
n.1411-18T>C
n.3296-18T>C
n.3987A>G
n.4249A>G
c.4002-18T>C (n.4002-18T>C)
c.3612-18T>C (n.3612-18T>C)
c.169+1434A>G (n.169+1434A>G)
c.*124+1233A>G (n.*124+1233A>G)
c.*3349-18T>C (n.*3349-18T>C)
n.3149A>G
c.3096-18T>C (n.3096-18T>C)
c.903-18T>C (n.903-18T>C)
c.3819-18T>C (n.3819-18T>C)
c.4095-18T>C (n.4095-18T>C)
c.3912-18T>C (n.3912-18T>C)
c.3798-18T>C (n.3798-18T>C)
c.3189-18T>C (n.3189-18T>C)
ClinVar dbSNP gnomAD v4
2g.47806761T>GCA913188073FBXO11,MSH6c.3705-18T>G (n.3705-18T>G)
c.3618-18T>G (n.3618-18T>G)
n.4676-18T>G
c.2436-18T>G (n.2436-18T>G)
c.4008-18T>G (n.4008-18T>G)
c.1457-18T>G (n.1457-18T>G)
c.2775-18T>G (n.2775-18T>G)
n.2962T>G
n.2597-18T>G
n.2264-18T>G
n.2666-18T>G
n.1411-18T>G
n.3296-18T>G
n.3987A>C
n.4249A>C
c.4002-18T>G (n.4002-18T>G)
c.3612-18T>G (n.3612-18T>G)
c.169+1434A>C (n.169+1434A>C)
c.*124+1233A>C (n.*124+1233A>C)
c.*3349-18T>G (n.*3349-18T>G)
n.3149A>C
c.3096-18T>G (n.3096-18T>G)
c.903-18T>G (n.903-18T>G)
c.3819-18T>G (n.3819-18T>G)
c.4095-18T>G (n.4095-18T>G)
c.3912-18T>G (n.3912-18T>G)
c.3798-18T>G (n.3798-18T>G)
c.3189-18T>G (n.3189-18T>G)
ClinVar dbSNP gnomAD v4
2g.47806761T=CA2496054498FBXO11,MSH6c.3705-18T= (n.3705-18T=)
c.3618-18T= (n.3618-18T=)
n.4676-18T=
c.2436-18T= (n.2436-18T=)
c.4008-18T= (n.4008-18T=)
c.1457-18T= (n.1457-18T=)
c.2775-18T= (n.2775-18T=)
n.2962T=
n.2597-18T=
n.2264-18T=
n.2666-18T=
n.1411-18T=
n.3296-18T=
n.3987A=
n.4249A=
c.4002-18T= (n.4002-18T=)
c.3612-18T= (n.3612-18T=)
c.169+1434A= (n.169+1434A=)
c.*124+1233A= (n.*124+1233A=)
c.*3349-18T= (n.*3349-18T=)
n.3149A=
c.3096-18T= (n.3096-18T=)
c.903-18T= (n.903-18T=)
c.3819-18T= (n.3819-18T=)
c.4095-18T= (n.4095-18T=)
c.3912-18T= (n.3912-18T=)
c.3798-18T= (n.3798-18T=)
c.3189-18T= (n.3189-18T=)
2g.47806762_47806769delinsGTTTTTTCCA2499216153FBXO11,MSH6c.3705-17_3705-10delinsGTTTTTTC (n.3705-17_3705-10delinsGTTTTTTC)
c.3618-17_3618-10delinsGTTTTTTC (n.3618-17_3618-10delinsGTTTTTTC)
n.4676-17_4676-10delinsGTTTTTTC
c.2436-17_2436-10delinsGTTTTTTC (n.2436-17_2436-10delinsGTTTTTTC)
c.4008-17_4008-10delinsGTTTTTTC (n.4008-17_4008-10delinsGTTTTTTC)
c.1457-17_1457-10delinsGTTTTTTC (n.1457-17_1457-10delinsGTTTTTTC)
c.2775-17_2775-10delinsGTTTTTTC (n.2775-17_2775-10delinsGTTTTTTC)
n.2963_2970delinsGTTTTTTC
n.2597-17_2597-10delinsGTTTTTTC
n.2264-17_2264-10delinsGTTTTTTC
n.2666-17_2666-10delinsGTTTTTTC
n.1411-17_1411-10delinsGTTTTTTC
n.3296-17_3296-10delinsGTTTTTTC
n.3979_3986delinsGAAAAAAC
n.4241_4248delinsGAAAAAAC
c.4002-17_4002-10delinsGTTTTTTC (n.4002-17_4002-10delinsGTTTTTTC)
c.3612-17_3612-10delinsGTTTTTTC (n.3612-17_3612-10delinsGTTTTTTC)
c.169+1426_169+1433delinsGAAAAAAC (n.169+1426_169+1433delinsGAAAAAAC)
c.*124+1225_*124+1232delinsGAAAAAAC (n.*124+1225_*124+1232delinsGAAAAAAC)
c.*3349-17_*3349-10delinsGTTTTTTC (n.*3349-17_*3349-10delinsGTTTTTTC)
n.3141_3148delinsGAAAAAAC
c.3096-17_3096-10delinsGTTTTTTC (n.3096-17_3096-10delinsGTTTTTTC)
c.903-17_903-10delinsGTTTTTTC (n.903-17_903-10delinsGTTTTTTC)
c.3819-17_3819-10delinsGTTTTTTC (n.3819-17_3819-10delinsGTTTTTTC)
c.4095-17_4095-10delinsGTTTTTTC (n.4095-17_4095-10delinsGTTTTTTC)
c.3912-17_3912-10delinsGTTTTTTC (n.3912-17_3912-10delinsGTTTTTTC)
c.3798-17_3798-10delinsGTTTTTTC (n.3798-17_3798-10delinsGTTTTTTC)
c.3189-17_3189-10delinsGTTTTTTC (n.3189-17_3189-10delinsGTTTTTTC)
ClinVar dbSNP
2g.47806762_47806778dupCA2658970093FBXO11,MSH6c.3705-17_3705-1dup (n.3705-17_3705-1dup)
c.3618-17_3618-1dup (n.3618-17_3618-1dup)
n.4676-17_4676-1dup
c.2436-17_2436-1dup (n.2436-17_2436-1dup)
c.4008-17_4008-1dup (n.4008-17_4008-1dup)
c.1457-17_1457-1dup (n.1457-17_1457-1dup)
c.2775-17_2775-1dup (n.2775-17_2775-1dup)
n.2963_2979dup
n.2597-17_2597-1dup
n.2264-17_2264-1dup
n.2666-17_2666-1dup
n.1411-17_1411-1dup
n.3296-17_3296-1dup
n.3970_3986dup
n.4232_4248dup
c.4002-17_4002-1dup (n.4002-17_4002-1dup)
c.3612-17_3612-1dup (n.3612-17_3612-1dup)
c.169+1417_169+1433dup (n.169+1417_169+1433dup)
c.*124+1216_*124+1232dup (n.*124+1216_*124+1232dup)
c.*3349-17_*3349-1dup (n.*3349-17_*3349-1dup)
n.3132_3148dup
c.3096-17_3096-1dup (n.3096-17_3096-1dup)
c.903-17_903-1dup (n.903-17_903-1dup)
c.3819-17_3819-1dup (n.3819-17_3819-1dup)
c.4095-17_4095-1dup (n.4095-17_4095-1dup)
c.3912-17_3912-1dup (n.3912-17_3912-1dup)
c.3798-17_3798-1dup (n.3798-17_3798-1dup)
c.3189-17_3189-1dup (n.3189-17_3189-1dup)
gnomAD v4
2g.47806763T>GCA16604337FBXO11,MSH6c.3705-16T>G (n.3705-16T>G)
c.3618-16T>G (n.3618-16T>G)
n.4676-16T>G
c.2436-16T>G (n.2436-16T>G)
c.4008-16T>G (n.4008-16T>G)
c.1457-16T>G (n.1457-16T>G)
c.2775-16T>G (n.2775-16T>G)
n.2964T>G
n.2597-16T>G
n.2264-16T>G
n.2666-16T>G
n.1411-16T>G
n.3296-16T>G
n.3985A>C
n.4247A>C
c.4002-16T>G (n.4002-16T>G)
c.3612-16T>G (n.3612-16T>G)
c.169+1432A>C (n.169+1432A>C)
c.*124+1231A>C (n.*124+1231A>C)
c.*3349-16T>G (n.*3349-16T>G)
n.3147A>C
c.3096-16T>G (n.3096-16T>G)
c.903-16T>G (n.903-16T>G)
c.3819-16T>G (n.3819-16T>G)
c.4095-16T>G (n.4095-16T>G)
c.3912-16T>G (n.3912-16T>G)
c.3798-16T>G (n.3798-16T>G)
c.3189-16T>G (n.3189-16T>G)
ClinVar dbSNP gnomAD v4
2g.47806763T=CA2496054499FBXO11,MSH6c.3705-16T= (n.3705-16T=)
c.3618-16T= (n.3618-16T=)
n.4676-16T=
c.2436-16T= (n.2436-16T=)
c.4008-16T= (n.4008-16T=)
c.1457-16T= (n.1457-16T=)
c.2775-16T= (n.2775-16T=)
n.2964T=
n.2597-16T=
n.2264-16T=
n.2666-16T=
n.1411-16T=
n.3296-16T=
n.3985A=
n.4247A=
c.4002-16T= (n.4002-16T=)
c.3612-16T= (n.3612-16T=)
c.169+1432A= (n.169+1432A=)
c.*124+1231A= (n.*124+1231A=)
c.*3349-16T= (n.*3349-16T=)
n.3147A=
c.3096-16T= (n.3096-16T=)
c.903-16T= (n.903-16T=)
c.3819-16T= (n.3819-16T=)
c.4095-16T= (n.4095-16T=)
c.3912-16T= (n.3912-16T=)
c.3798-16T= (n.3798-16T=)
c.3189-16T= (n.3189-16T=)
2g.47806763_47806771delinsTTTTTTTAACA2496054500FBXO11,MSH6c.3705-16_3705-8delinsTTTTTTTAA (n.3705-16_3705-8delinsTTTTTTTAA)
c.3618-16_3618-8delinsTTTTTTTAA (n.3618-16_3618-8delinsTTTTTTTAA)
n.4676-16_4676-8delinsTTTTTTTAA
c.2436-16_2436-8delinsTTTTTTTAA (n.2436-16_2436-8delinsTTTTTTTAA)
c.4008-16_4008-8delinsTTTTTTTAA (n.4008-16_4008-8delinsTTTTTTTAA)
c.1457-16_1457-8delinsTTTTTTTAA (n.1457-16_1457-8delinsTTTTTTTAA)
c.2775-16_2775-8delinsTTTTTTTAA (n.2775-16_2775-8delinsTTTTTTTAA)
n.2964_2972delinsTTTTTTTAA
n.2597-16_2597-8delinsTTTTTTTAA
n.2264-16_2264-8delinsTTTTTTTAA
n.2666-16_2666-8delinsTTTTTTTAA
n.1411-16_1411-8delinsTTTTTTTAA
n.3296-16_3296-8delinsTTTTTTTAA
n.3977_3985delinsTTAAAAAAA
n.4239_4247delinsTTAAAAAAA
c.4002-16_4002-8delinsTTTTTTTAA (n.4002-16_4002-8delinsTTTTTTTAA)
c.3612-16_3612-8delinsTTTTTTTAA (n.3612-16_3612-8delinsTTTTTTTAA)
c.169+1424_169+1432delinsTTAAAAAAA (n.169+1424_169+1432delinsTTAAAAAAA)
c.*124+1223_*124+1231delinsTTAAAAAAA (n.*124+1223_*124+1231delinsTTAAAAAAA)
c.*3349-16_*3349-8delinsTTTTTTTAA (n.*3349-16_*3349-8delinsTTTTTTTAA)
n.3139_3147delinsTTAAAAAAA
c.3096-16_3096-8delinsTTTTTTTAA (n.3096-16_3096-8delinsTTTTTTTAA)
c.903-16_903-8delinsTTTTTTTAA (n.903-16_903-8delinsTTTTTTTAA)
c.3819-16_3819-8delinsTTTTTTTAA (n.3819-16_3819-8delinsTTTTTTTAA)
c.4095-16_4095-8delinsTTTTTTTAA (n.4095-16_4095-8delinsTTTTTTTAA)
c.3912-16_3912-8delinsTTTTTTTAA (n.3912-16_3912-8delinsTTTTTTTAA)
c.3798-16_3798-8delinsTTTTTTTAA (n.3798-16_3798-8delinsTTTTTTTAA)
c.3189-16_3189-8delinsTTTTTTTAA (n.3189-16_3189-8delinsTTTTTTTAA)
2g.47806764T>ACA072626FBXO11,MSH6c.3705-15T>A (n.3705-15T>A)
c.3618-15T>A (n.3618-15T>A)
n.4676-15T>A
c.2436-15T>A (n.2436-15T>A)
c.4008-15T>A (n.4008-15T>A)
c.1457-15T>A (n.1457-15T>A)
c.2775-15T>A (n.2775-15T>A)
n.2965T>A
n.2597-15T>A
n.2264-15T>A
n.2666-15T>A
n.1411-15T>A
n.3296-15T>A
n.3984A>T
n.4246A>T
c.4002-15T>A (n.4002-15T>A)
c.3612-15T>A (n.3612-15T>A)
c.169+1431A>T (n.169+1431A>T)
c.*124+1230A>T (n.*124+1230A>T)
c.*3349-15T>A (n.*3349-15T>A)
n.3146A>T
c.3096-15T>A (n.3096-15T>A)
c.903-15T>A (n.903-15T>A)
c.3819-15T>A (n.3819-15T>A)
c.4095-15T>A (n.4095-15T>A)
c.3912-15T>A (n.3912-15T>A)
c.3798-15T>A (n.3798-15T>A)
c.3189-15T>A (n.3189-15T>A)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.47806764T=CA2496054503FBXO11,MSH6c.3705-15T= (n.3705-15T=)
c.3618-15T= (n.3618-15T=)
n.4676-15T=
c.2436-15T= (n.2436-15T=)
c.4008-15T= (n.4008-15T=)
c.1457-15T= (n.1457-15T=)
c.2775-15T= (n.2775-15T=)
n.2965T=
n.2597-15T=
n.2264-15T=
n.2666-15T=
n.1411-15T=
n.3296-15T=
n.3984A=
n.4246A=
c.4002-15T= (n.4002-15T=)
c.3612-15T= (n.3612-15T=)
c.169+1431A= (n.169+1431A=)
c.*124+1230A= (n.*124+1230A=)
c.*3349-15T= (n.*3349-15T=)
n.3146A=
c.3096-15T= (n.3096-15T=)
c.903-15T= (n.903-15T=)
c.3819-15T= (n.3819-15T=)
c.4095-15T= (n.4095-15T=)
c.3912-15T= (n.3912-15T=)
c.3798-15T= (n.3798-15T=)
c.3189-15T= (n.3189-15T=)
2g.47806764_47806770delCA2573134804FBXO11,MSH6c.3705-15_3705-9del (n.3705-15_3705-9del)
c.3618-15_3618-9del (n.3618-15_3618-9del)
n.4676-15_4676-9del
c.2436-15_2436-9del (n.2436-15_2436-9del)
c.4008-15_4008-9del (n.4008-15_4008-9del)
c.1457-15_1457-9del (n.1457-15_1457-9del)
c.2775-15_2775-9del (n.2775-15_2775-9del)
n.2965_2971del
n.2597-15_2597-9del
n.2264-15_2264-9del
n.2666-15_2666-9del
n.1411-15_1411-9del
n.3296-15_3296-9del
n.3978_3984del
n.4240_4246del
c.4002-15_4002-9del (n.4002-15_4002-9del)
c.3612-15_3612-9del (n.3612-15_3612-9del)
c.169+1425_169+1431del (n.169+1425_169+1431del)
c.*124+1224_*124+1230del (n.*124+1224_*124+1230del)
c.*3349-15_*3349-9del (n.*3349-15_*3349-9del)
n.3140_3146del
c.3096-15_3096-9del (n.3096-15_3096-9del)
c.903-15_903-9del (n.903-15_903-9del)
c.3819-15_3819-9del (n.3819-15_3819-9del)
c.4095-15_4095-9del (n.4095-15_4095-9del)
c.3912-15_3912-9del (n.3912-15_3912-9del)
c.3798-15_3798-9del (n.3798-15_3798-9del)
c.3189-15_3189-9del (n.3189-15_3189-9del)
ClinVar dbSNP
2g.47806764_47806770delinsTTTTTTACA2496054502FBXO11,MSH6c.3705-15_3705-9delinsTTTTTTA (n.3705-15_3705-9delinsTTTTTTA)
c.3618-15_3618-9delinsTTTTTTA (n.3618-15_3618-9delinsTTTTTTA)
n.4676-15_4676-9delinsTTTTTTA
c.2436-15_2436-9delinsTTTTTTA (n.2436-15_2436-9delinsTTTTTTA)
c.4008-15_4008-9delinsTTTTTTA (n.4008-15_4008-9delinsTTTTTTA)
c.1457-15_1457-9delinsTTTTTTA (n.1457-15_1457-9delinsTTTTTTA)
c.2775-15_2775-9delinsTTTTTTA (n.2775-15_2775-9delinsTTTTTTA)
n.2965_2971delinsTTTTTTA
n.2597-15_2597-9delinsTTTTTTA
n.2264-15_2264-9delinsTTTTTTA
n.2666-15_2666-9delinsTTTTTTA
n.1411-15_1411-9delinsTTTTTTA
n.3296-15_3296-9delinsTTTTTTA
n.3978_3984delinsTAAAAAA
n.4240_4246delinsTAAAAAA
c.4002-15_4002-9delinsTTTTTTA (n.4002-15_4002-9delinsTTTTTTA)
c.3612-15_3612-9delinsTTTTTTA (n.3612-15_3612-9delinsTTTTTTA)
c.169+1425_169+1431delinsTAAAAAA (n.169+1425_169+1431delinsTAAAAAA)
c.*124+1224_*124+1230delinsTAAAAAA (n.*124+1224_*124+1230delinsTAAAAAA)
c.*3349-15_*3349-9delinsTTTTTTA (n.*3349-15_*3349-9delinsTTTTTTA)
n.3140_3146delinsTAAAAAA
c.3096-15_3096-9delinsTTTTTTA (n.3096-15_3096-9delinsTTTTTTA)
c.903-15_903-9delinsTTTTTTA (n.903-15_903-9delinsTTTTTTA)
c.3819-15_3819-9delinsTTTTTTA (n.3819-15_3819-9delinsTTTTTTA)
c.4095-15_4095-9delinsTTTTTTA (n.4095-15_4095-9delinsTTTTTTA)
c.3912-15_3912-9delinsTTTTTTA (n.3912-15_3912-9delinsTTTTTTA)
c.3798-15_3798-9delinsTTTTTTA (n.3798-15_3798-9delinsTTTTTTA)
c.3189-15_3189-9delinsTTTTTTA (n.3189-15_3189-9delinsTTTTTTA)
2g.47806764_47806771delinsTTTTTTAACA2496054501FBXO11,MSH6c.3705-15_3705-8delinsTTTTTTAA (n.3705-15_3705-8delinsTTTTTTAA)
c.3618-15_3618-8delinsTTTTTTAA (n.3618-15_3618-8delinsTTTTTTAA)
n.4676-15_4676-8delinsTTTTTTAA
c.2436-15_2436-8delinsTTTTTTAA (n.2436-15_2436-8delinsTTTTTTAA)
c.4008-15_4008-8delinsTTTTTTAA (n.4008-15_4008-8delinsTTTTTTAA)
c.1457-15_1457-8delinsTTTTTTAA (n.1457-15_1457-8delinsTTTTTTAA)
c.2775-15_2775-8delinsTTTTTTAA (n.2775-15_2775-8delinsTTTTTTAA)
n.2965_2972delinsTTTTTTAA
n.2597-15_2597-8delinsTTTTTTAA
n.2264-15_2264-8delinsTTTTTTAA
n.2666-15_2666-8delinsTTTTTTAA
n.1411-15_1411-8delinsTTTTTTAA
n.3296-15_3296-8delinsTTTTTTAA
n.3977_3984delinsTTAAAAAA
n.4239_4246delinsTTAAAAAA
c.4002-15_4002-8delinsTTTTTTAA (n.4002-15_4002-8delinsTTTTTTAA)
c.3612-15_3612-8delinsTTTTTTAA (n.3612-15_3612-8delinsTTTTTTAA)
c.169+1424_169+1431delinsTTAAAAAA (n.169+1424_169+1431delinsTTAAAAAA)
c.*124+1223_*124+1230delinsTTAAAAAA (n.*124+1223_*124+1230delinsTTAAAAAA)
c.*3349-15_*3349-8delinsTTTTTTAA (n.*3349-15_*3349-8delinsTTTTTTAA)
n.3139_3146delinsTTAAAAAA
c.3096-15_3096-8delinsTTTTTTAA (n.3096-15_3096-8delinsTTTTTTAA)
c.903-15_903-8delinsTTTTTTAA (n.903-15_903-8delinsTTTTTTAA)
c.3819-15_3819-8delinsTTTTTTAA (n.3819-15_3819-8delinsTTTTTTAA)
c.4095-15_4095-8delinsTTTTTTAA (n.4095-15_4095-8delinsTTTTTTAA)
c.3912-15_3912-8delinsTTTTTTAA (n.3912-15_3912-8delinsTTTTTTAA)
c.3798-15_3798-8delinsTTTTTTAA (n.3798-15_3798-8delinsTTTTTTAA)
c.3189-15_3189-8delinsTTTTTTAA (n.3189-15_3189-8delinsTTTTTTAA)
2g.47806768_47806775delCA16611185FBXO11,MSH6c.3705-11_3705-4del (n.3705-11_3705-4del)
c.3618-11_3618-4del (n.3618-11_3618-4del)
n.4676-11_4676-4del
c.2436-11_2436-4del (n.2436-11_2436-4del)
c.4008-11_4008-4del (n.4008-11_4008-4del)
c.1457-11_1457-4del (n.1457-11_1457-4del)
c.2775-11_2775-4del (n.2775-11_2775-4del)
n.2969_2976del
n.2597-11_2597-4del
n.2264-11_2264-4del
n.2666-11_2666-4del
n.1411-11_1411-4del
n.3296-11_3296-4del
n.3977_3984del
n.4239_4246del
c.4002-11_4002-4del (n.4002-11_4002-4del)
c.3612-11_3612-4del (n.3612-11_3612-4del)
c.169+1424_169+1431del (n.169+1424_169+1431del)
c.*124+1223_*124+1230del (n.*124+1223_*124+1230del)
c.*3349-11_*3349-4del (n.*3349-11_*3349-4del)
n.3139_3146del
c.3096-11_3096-4del (n.3096-11_3096-4del)
c.903-11_903-4del (n.903-11_903-4del)
c.3819-11_3819-4del (n.3819-11_3819-4del)
c.4095-11_4095-4del (n.4095-11_4095-4del)
c.3912-11_3912-4del (n.3912-11_3912-4del)
c.3798-11_3798-4del (n.3798-11_3798-4del)
c.3189-11_3189-4del (n.3189-11_3189-4del)
ClinVar dbSNP
2g.47806765T>CCA015255FBXO11,MSH6c.3705-14T>C (n.3705-14T>C)
c.3618-14T>C (n.3618-14T>C)
n.4676-14T>C
c.2436-14T>C (n.2436-14T>C)
c.4008-14T>C (n.4008-14T>C)
c.1457-14T>C (n.1457-14T>C)
c.2775-14T>C (n.2775-14T>C)
n.2966T>C
n.2597-14T>C
n.2264-14T>C
n.2666-14T>C
n.1411-14T>C
n.3296-14T>C
n.3983A>G
n.4245A>G
c.4002-14T>C (n.4002-14T>C)
c.3612-14T>C (n.3612-14T>C)
c.169+1430A>G (n.169+1430A>G)
c.*124+1229A>G (n.*124+1229A>G)
c.*3349-14T>C (n.*3349-14T>C)
n.3145A>G
c.3096-14T>C (n.3096-14T>C)
c.903-14T>C (n.903-14T>C)
c.3819-14T>C (n.3819-14T>C)
c.4095-14T>C (n.4095-14T>C)
c.3912-14T>C (n.3912-14T>C)
c.3798-14T>C (n.3798-14T>C)
c.3189-14T>C (n.3189-14T>C)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.47806765T=CA2496054504FBXO11,MSH6c.3705-14T= (n.3705-14T=)
c.3618-14T= (n.3618-14T=)
n.4676-14T=
c.2436-14T= (n.2436-14T=)
c.4008-14T= (n.4008-14T=)
c.1457-14T= (n.1457-14T=)
c.2775-14T= (n.2775-14T=)
n.2966T=
n.2597-14T=
n.2264-14T=
n.2666-14T=
n.1411-14T=
n.3296-14T=
n.3983A=
n.4245A=
c.4002-14T= (n.4002-14T=)
c.3612-14T= (n.3612-14T=)
c.169+1430A= (n.169+1430A=)
c.*124+1229A= (n.*124+1229A=)
c.*3349-14T= (n.*3349-14T=)
n.3145A=
c.3096-14T= (n.3096-14T=)
c.903-14T= (n.903-14T=)
c.3819-14T= (n.3819-14T=)
c.4095-14T= (n.4095-14T=)
c.3912-14T= (n.3912-14T=)
c.3798-14T= (n.3798-14T=)
c.3189-14T= (n.3189-14T=)
2g.47806765_47806770delCA658683262FBXO11,MSH6c.3705-14_3705-9del (n.3705-14_3705-9del)
c.3618-14_3618-9del (n.3618-14_3618-9del)
n.4676-14_4676-9del
c.2436-14_2436-9del (n.2436-14_2436-9del)
c.4008-14_4008-9del (n.4008-14_4008-9del)
c.1457-14_1457-9del (n.1457-14_1457-9del)
c.2775-14_2775-9del (n.2775-14_2775-9del)
n.2966_2971del
n.2597-14_2597-9del
n.2264-14_2264-9del
n.2666-14_2666-9del
n.1411-14_1411-9del
n.3296-14_3296-9del
n.3978_3983del
n.4240_4245del
c.4002-14_4002-9del (n.4002-14_4002-9del)
c.3612-14_3612-9del (n.3612-14_3612-9del)
c.169+1425_169+1430del (n.169+1425_169+1430del)
c.*124+1224_*124+1229del (n.*124+1224_*124+1229del)
c.*3349-14_*3349-9del (n.*3349-14_*3349-9del)
n.3140_3145del
c.3096-14_3096-9del (n.3096-14_3096-9del)
c.903-14_903-9del (n.903-14_903-9del)
c.3819-14_3819-9del (n.3819-14_3819-9del)
c.4095-14_4095-9del (n.4095-14_4095-9del)
c.3912-14_3912-9del (n.3912-14_3912-9del)
c.3798-14_3798-9del (n.3798-14_3798-9del)
c.3189-14_3189-9del (n.3189-14_3189-9del)
ClinVar dbSNP
2g.47806769_47806775delCA658795766FBXO11,MSH6c.3705-10_3705-4del (n.3705-10_3705-4del)
c.3618-10_3618-4del (n.3618-10_3618-4del)
n.4676-10_4676-4del
c.2436-10_2436-4del (n.2436-10_2436-4del)
c.4008-10_4008-4del (n.4008-10_4008-4del)
c.1457-10_1457-4del (n.1457-10_1457-4del)
c.2775-10_2775-4del (n.2775-10_2775-4del)
n.2970_2976del
n.2597-10_2597-4del
n.2264-10_2264-4del
n.2666-10_2666-4del
n.1411-10_1411-4del
n.3296-10_3296-4del
n.3977_3983del
n.4239_4245del
c.4002-10_4002-4del (n.4002-10_4002-4del)
c.3612-10_3612-4del (n.3612-10_3612-4del)
c.169+1424_169+1430del (n.169+1424_169+1430del)
c.*124+1223_*124+1229del (n.*124+1223_*124+1229del)
c.*3349-10_*3349-4del (n.*3349-10_*3349-4del)
n.3139_3145del
c.3096-10_3096-4del (n.3096-10_3096-4del)
c.903-10_903-4del (n.903-10_903-4del)
c.3819-10_3819-4del (n.3819-10_3819-4del)
c.4095-10_4095-4del (n.4095-10_4095-4del)
c.3912-10_3912-4del (n.3912-10_3912-4del)
c.3798-10_3798-4del (n.3798-10_3798-4del)
c.3189-10_3189-4del (n.3189-10_3189-4del)
ClinVar dbSNP
2g.47806766T>ACA2699333138FBXO11,MSH6c.3705-13T>A (n.3705-13T>A)
c.3618-13T>A (n.3618-13T>A)
n.4676-13T>A
c.2436-13T>A (n.2436-13T>A)
c.4008-13T>A (n.4008-13T>A)
c.1457-13T>A (n.1457-13T>A)
c.2775-13T>A (n.2775-13T>A)
n.2967T>A
n.2597-13T>A
n.2264-13T>A
n.2666-13T>A
n.1411-13T>A
n.3296-13T>A
n.3982A>T
n.4244A>T
c.4002-13T>A (n.4002-13T>A)
c.3612-13T>A (n.3612-13T>A)
c.169+1429A>T (n.169+1429A>T)
c.*124+1228A>T (n.*124+1228A>T)
c.*3349-13T>A (n.*3349-13T>A)
n.3144A>T
c.3096-13T>A (n.3096-13T>A)
c.903-13T>A (n.903-13T>A)
c.3819-13T>A (n.3819-13T>A)
c.4095-13T>A (n.4095-13T>A)
c.3912-13T>A (n.3912-13T>A)
c.3798-13T>A (n.3798-13T>A)
c.3189-13T>A (n.3189-13T>A)
dbSNP
2g.47806766T>CCA2699333098FBXO11,MSH6c.3705-13T>C (n.3705-13T>C)
c.3618-13T>C (n.3618-13T>C)
n.4676-13T>C
c.2436-13T>C (n.2436-13T>C)
c.4008-13T>C (n.4008-13T>C)
c.1457-13T>C (n.1457-13T>C)
c.2775-13T>C (n.2775-13T>C)
n.2967T>C
n.2597-13T>C
n.2264-13T>C
n.2666-13T>C
n.1411-13T>C
n.3296-13T>C
n.3982A>G
n.4244A>G
c.4002-13T>C (n.4002-13T>C)
c.3612-13T>C (n.3612-13T>C)
c.169+1429A>G (n.169+1429A>G)
c.*124+1228A>G (n.*124+1228A>G)
c.*3349-13T>C (n.*3349-13T>C)
n.3144A>G
c.3096-13T>C (n.3096-13T>C)
c.903-13T>C (n.903-13T>C)
c.3819-13T>C (n.3819-13T>C)
c.4095-13T>C (n.4095-13T>C)
c.3912-13T>C (n.3912-13T>C)
c.3798-13T>C (n.3798-13T>C)
c.3189-13T>C (n.3189-13T>C)
dbSNP
2g.47806766T=CA2496054505FBXO11,MSH6c.3705-13T= (n.3705-13T=)
c.3618-13T= (n.3618-13T=)
n.4676-13T=
c.2436-13T= (n.2436-13T=)
c.4008-13T= (n.4008-13T=)
c.1457-13T= (n.1457-13T=)
c.2775-13T= (n.2775-13T=)
n.2967T=
n.2597-13T=
n.2264-13T=
n.2666-13T=
n.1411-13T=
n.3296-13T=
n.3982A=
n.4244A=
c.4002-13T= (n.4002-13T=)
c.3612-13T= (n.3612-13T=)
c.169+1429A= (n.169+1429A=)
c.*124+1228A= (n.*124+1228A=)
c.*3349-13T= (n.*3349-13T=)
n.3144A=
c.3096-13T= (n.3096-13T=)
c.903-13T= (n.903-13T=)
c.3819-13T= (n.3819-13T=)
c.4095-13T= (n.4095-13T=)
c.3912-13T= (n.3912-13T=)
c.3798-13T= (n.3798-13T=)
c.3189-13T= (n.3189-13T=)
2g.47806772_47806777dupCA2658970121FBXO11,MSH6c.3705-7_3705-2dup (n.3705-7_3705-2dup)
c.3618-7_3618-2dup (n.3618-7_3618-2dup)
n.4676-7_4676-2dup
c.2436-7_2436-2dup (n.2436-7_2436-2dup)
c.4008-7_4008-2dup (n.4008-7_4008-2dup)
c.1457-7_1457-2dup (n.1457-7_1457-2dup)
c.2775-7_2775-2dup (n.2775-7_2775-2dup)
n.2973_2978dup
n.2597-7_2597-2dup
n.2264-7_2264-2dup
n.2666-7_2666-2dup
n.1411-7_1411-2dup
n.3296-7_3296-2dup
n.3977_3982dup
n.4239_4244dup
c.4002-7_4002-2dup (n.4002-7_4002-2dup)
c.3612-7_3612-2dup (n.3612-7_3612-2dup)
c.169+1424_169+1429dup (n.169+1424_169+1429dup)
c.*124+1223_*124+1228dup (n.*124+1223_*124+1228dup)
c.*3349-7_*3349-2dup (n.*3349-7_*3349-2dup)
n.3139_3144dup
c.3096-7_3096-2dup (n.3096-7_3096-2dup)
c.903-7_903-2dup (n.903-7_903-2dup)
c.3819-7_3819-2dup (n.3819-7_3819-2dup)
c.4095-7_4095-2dup (n.4095-7_4095-2dup)
c.3912-7_3912-2dup (n.3912-7_3912-2dup)
c.3798-7_3798-2dup (n.3798-7_3798-2dup)
c.3189-7_3189-2dup (n.3189-7_3189-2dup)
gnomAD v4
2g.47806772_47806777delCA2580611345FBXO11,MSH6c.3705-7_3705-2del (n.3705-7_3705-2del)
c.3618-7_3618-2del (n.3618-7_3618-2del)
n.4676-7_4676-2del
c.2436-7_2436-2del (n.2436-7_2436-2del)
c.4008-7_4008-2del (n.4008-7_4008-2del)
c.1457-7_1457-2del (n.1457-7_1457-2del)
c.2775-7_2775-2del (n.2775-7_2775-2del)
n.2973_2978del
n.2597-7_2597-2del
n.2264-7_2264-2del
n.2666-7_2666-2del
n.1411-7_1411-2del
n.3296-7_3296-2del
n.3977_3982del
n.4239_4244del
c.4002-7_4002-2del (n.4002-7_4002-2del)
c.3612-7_3612-2del (n.3612-7_3612-2del)
c.169+1424_169+1429del (n.169+1424_169+1429del)
c.*124+1223_*124+1228del (n.*124+1223_*124+1228del)
c.*3349-7_*3349-2del (n.*3349-7_*3349-2del)
n.3139_3144del
c.3096-7_3096-2del (n.3096-7_3096-2del)
c.903-7_903-2del (n.903-7_903-2del)
c.3819-7_3819-2del (n.3819-7_3819-2del)
c.4095-7_4095-2del (n.4095-7_4095-2del)
c.3912-7_3912-2del (n.3912-7_3912-2del)
c.3798-7_3798-2del (n.3798-7_3798-2del)
c.3189-7_3189-2del (n.3189-7_3189-2del)
ClinVar dbSNP gnomAD v4
2g.47806766_47806767insAACA16617723FBXO11,MSH6c.3705-13_3705-12insAA (n.3705-13_3705-12insAA)
c.3618-13_3618-12insAA (n.3618-13_3618-12insAA)
n.4676-13_4676-12insAA
c.2436-13_2436-12insAA (n.2436-13_2436-12insAA)
c.4008-13_4008-12insAA (n.4008-13_4008-12insAA)
c.1457-13_1457-12insAA (n.1457-13_1457-12insAA)
c.2775-13_2775-12insAA (n.2775-13_2775-12insAA)
n.2967_2968insAA
n.2597-13_2597-12insAA
n.2264-13_2264-12insAA
n.2666-13_2666-12insAA
n.1411-13_1411-12insAA
n.3296-13_3296-12insAA
n.3981_3982insTT
n.4243_4244insTT
c.4002-13_4002-12insAA (n.4002-13_4002-12insAA)
c.3612-13_3612-12insAA (n.3612-13_3612-12insAA)
c.169+1428_169+1429insTT (n.169+1428_169+1429insTT)
c.*124+1227_*124+1228insTT (n.*124+1227_*124+1228insTT)
c.*3349-13_*3349-12insAA (n.*3349-13_*3349-12insAA)
n.3143_3144insTT
c.3096-13_3096-12insAA (n.3096-13_3096-12insAA)
c.903-13_903-12insAA (n.903-13_903-12insAA)
c.3819-13_3819-12insAA (n.3819-13_3819-12insAA)
c.4095-13_4095-12insAA (n.4095-13_4095-12insAA)
c.3912-13_3912-12insAA (n.3912-13_3912-12insAA)
c.3798-13_3798-12insAA (n.3798-13_3798-12insAA)
c.3189-13_3189-12insAA (n.3189-13_3189-12insAA)
ClinVar dbSNP
2g.47806767T>ACA2496054506FBXO11,MSH6c.3705-12T>A (n.3705-12T>A)
c.3618-12T>A (n.3618-12T>A)
n.4676-12T>A
c.2436-12T>A (n.2436-12T>A)
c.4008-12T>A (n.4008-12T>A)
c.1457-12T>A (n.1457-12T>A)
c.2775-12T>A (n.2775-12T>A)
n.2968T>A
n.2597-12T>A
n.2264-12T>A
n.2666-12T>A
n.1411-12T>A
n.3296-12T>A
n.3981A>T
n.4243A>T
c.4002-12T>A (n.4002-12T>A)
c.3612-12T>A (n.3612-12T>A)
c.169+1428A>T (n.169+1428A>T)
c.*124+1227A>T (n.*124+1227A>T)
c.*3349-12T>A (n.*3349-12T>A)
n.3143A>T
c.3096-12T>A (n.3096-12T>A)
c.903-12T>A (n.903-12T>A)
c.3819-12T>A (n.3819-12T>A)
c.4095-12T>A (n.4095-12T>A)
c.3912-12T>A (n.3912-12T>A)
c.3798-12T>A (n.3798-12T>A)
c.3189-12T>A (n.3189-12T>A)
dbSNP
2g.47806767T=CA2496054507FBXO11,MSH6c.3705-12T= (n.3705-12T=)
c.3618-12T= (n.3618-12T=)
n.4676-12T=
c.2436-12T= (n.2436-12T=)
c.4008-12T= (n.4008-12T=)
c.1457-12T= (n.1457-12T=)
c.2775-12T= (n.2775-12T=)
n.2968T=
n.2597-12T=
n.2264-12T=
n.2666-12T=
n.1411-12T=
n.3296-12T=
n.3981A=
n.4243A=
c.4002-12T= (n.4002-12T=)
c.3612-12T= (n.3612-12T=)
c.169+1428A= (n.169+1428A=)
c.*124+1227A= (n.*124+1227A=)
c.*3349-12T= (n.*3349-12T=)
n.3143A=
c.3096-12T= (n.3096-12T=)
c.903-12T= (n.903-12T=)
c.3819-12T= (n.3819-12T=)
c.4095-12T= (n.4095-12T=)
c.3912-12T= (n.3912-12T=)
c.3798-12T= (n.3798-12T=)
c.3189-12T= (n.3189-12T=)
2g.47806767_47806769delinsTTTCA2496054508FBXO11,MSH6c.3705-12_3705-10delinsTTT (n.3705-12_3705-10delinsTTT)
c.3618-12_3618-10delinsTTT (n.3618-12_3618-10delinsTTT)
n.4676-12_4676-10delinsTTT
c.2436-12_2436-10delinsTTT (n.2436-12_2436-10delinsTTT)
c.4008-12_4008-10delinsTTT (n.4008-12_4008-10delinsTTT)
c.1457-12_1457-10delinsTTT (n.1457-12_1457-10delinsTTT)
c.2775-12_2775-10delinsTTT (n.2775-12_2775-10delinsTTT)
n.2968_2970delinsTTT
n.2597-12_2597-10delinsTTT
n.2264-12_2264-10delinsTTT
n.2666-12_2666-10delinsTTT
n.1411-12_1411-10delinsTTT
n.3296-12_3296-10delinsTTT
n.3979_3981delinsAAA
n.4241_4243delinsAAA
c.4002-12_4002-10delinsTTT (n.4002-12_4002-10delinsTTT)
c.3612-12_3612-10delinsTTT (n.3612-12_3612-10delinsTTT)
c.169+1426_169+1428delinsAAA (n.169+1426_169+1428delinsAAA)
c.*124+1225_*124+1227delinsAAA (n.*124+1225_*124+1227delinsAAA)
c.*3349-12_*3349-10delinsTTT (n.*3349-12_*3349-10delinsTTT)
n.3141_3143delinsAAA
c.3096-12_3096-10delinsTTT (n.3096-12_3096-10delinsTTT)
c.903-12_903-10delinsTTT (n.903-12_903-10delinsTTT)
c.3819-12_3819-10delinsTTT (n.3819-12_3819-10delinsTTT)
c.4095-12_4095-10delinsTTT (n.4095-12_4095-10delinsTTT)
c.3912-12_3912-10delinsTTT (n.3912-12_3912-10delinsTTT)
c.3798-12_3798-10delinsTTT (n.3798-12_3798-10delinsTTT)
c.3189-12_3189-10delinsTTT (n.3189-12_3189-10delinsTTT)
2g.47806769_47806770insTCTTTCA2699333308FBXO11,MSH6c.3705-10_3705-9insTCTTT (n.3705-10_3705-9insTCTTT)
c.3618-10_3618-9insTCTTT (n.3618-10_3618-9insTCTTT)
n.4676-10_4676-9insTCTTT
c.2436-10_2436-9insTCTTT (n.2436-10_2436-9insTCTTT)
c.4008-10_4008-9insTCTTT (n.4008-10_4008-9insTCTTT)
c.1457-10_1457-9insTCTTT (n.1457-10_1457-9insTCTTT)
c.2775-10_2775-9insTCTTT (n.2775-10_2775-9insTCTTT)
n.2970_2971insTCTTT
n.2597-10_2597-9insTCTTT
n.2264-10_2264-9insTCTTT
n.2666-10_2666-9insTCTTT
n.1411-10_1411-9insTCTTT
n.3296-10_3296-9insTCTTT
n.3981_3982insGAAAA
n.4243_4244insGAAAA
c.4002-10_4002-9insTCTTT (n.4002-10_4002-9insTCTTT)
c.3612-10_3612-9insTCTTT (n.3612-10_3612-9insTCTTT)
c.169+1428_169+1429insGAAAA (n.169+1428_169+1429insGAAAA)
c.*124+1227_*124+1228insGAAAA (n.*124+1227_*124+1228insGAAAA)
c.*3349-10_*3349-9insTCTTT (n.*3349-10_*3349-9insTCTTT)
n.3143_3144insGAAAA
c.3096-10_3096-9insTCTTT (n.3096-10_3096-9insTCTTT)
c.903-10_903-9insTCTTT (n.903-10_903-9insTCTTT)
c.3819-10_3819-9insTCTTT (n.3819-10_3819-9insTCTTT)
c.4095-10_4095-9insTCTTT (n.4095-10_4095-9insTCTTT)
c.3912-10_3912-9insTCTTT (n.3912-10_3912-9insTCTTT)
c.3798-10_3798-9insTCTTT (n.3798-10_3798-9insTCTTT)
c.3189-10_3189-9insTCTTT (n.3189-10_3189-9insTCTTT)
dbSNP
2g.47806767_47806770delCA2658970130FBXO11,MSH6c.3705-12_3705-9del (n.3705-12_3705-9del)
c.3618-12_3618-9del (n.3618-12_3618-9del)
n.4676-12_4676-9del
c.2436-12_2436-9del (n.2436-12_2436-9del)
c.4008-12_4008-9del (n.4008-12_4008-9del)
c.1457-12_1457-9del (n.1457-12_1457-9del)
c.2775-12_2775-9del (n.2775-12_2775-9del)
n.2968_2971del
n.2597-12_2597-9del
n.2264-12_2264-9del
n.2666-12_2666-9del
n.1411-12_1411-9del
n.3296-12_3296-9del
n.3978_3981del
n.4240_4243del
c.4002-12_4002-9del (n.4002-12_4002-9del)
c.3612-12_3612-9del (n.3612-12_3612-9del)
c.169+1425_169+1428del (n.169+1425_169+1428del)
c.*124+1224_*124+1227del (n.*124+1224_*124+1227del)
c.*3349-12_*3349-9del (n.*3349-12_*3349-9del)
n.3140_3143del
c.3096-12_3096-9del (n.3096-12_3096-9del)
c.903-12_903-9del (n.903-12_903-9del)
c.3819-12_3819-9del (n.3819-12_3819-9del)
c.4095-12_4095-9del (n.4095-12_4095-9del)
c.3912-12_3912-9del (n.3912-12_3912-9del)
c.3798-12_3798-9del (n.3798-12_3798-9del)
c.3189-12_3189-9del (n.3189-12_3189-9del)
gnomAD v4
2g.47806767_47806770delinsTTTACA2496054509FBXO11,MSH6c.3705-12_3705-9delinsTTTA (n.3705-12_3705-9delinsTTTA)
c.3618-12_3618-9delinsTTTA (n.3618-12_3618-9delinsTTTA)
n.4676-12_4676-9delinsTTTA
c.2436-12_2436-9delinsTTTA (n.2436-12_2436-9delinsTTTA)
c.4008-12_4008-9delinsTTTA (n.4008-12_4008-9delinsTTTA)
c.1457-12_1457-9delinsTTTA (n.1457-12_1457-9delinsTTTA)
c.2775-12_2775-9delinsTTTA (n.2775-12_2775-9delinsTTTA)
n.2968_2971delinsTTTA
n.2597-12_2597-9delinsTTTA
n.2264-12_2264-9delinsTTTA
n.2666-12_2666-9delinsTTTA
n.1411-12_1411-9delinsTTTA
n.3296-12_3296-9delinsTTTA
n.3978_3981delinsTAAA
n.4240_4243delinsTAAA
c.4002-12_4002-9delinsTTTA (n.4002-12_4002-9delinsTTTA)
c.3612-12_3612-9delinsTTTA (n.3612-12_3612-9delinsTTTA)
c.169+1425_169+1428delinsTAAA (n.169+1425_169+1428delinsTAAA)
c.*124+1224_*124+1227delinsTAAA (n.*124+1224_*124+1227delinsTAAA)
c.*3349-12_*3349-9delinsTTTA (n.*3349-12_*3349-9delinsTTTA)
n.3140_3143delinsTAAA
c.3096-12_3096-9delinsTTTA (n.3096-12_3096-9delinsTTTA)
c.903-12_903-9delinsTTTA (n.903-12_903-9delinsTTTA)
c.3819-12_3819-9delinsTTTA (n.3819-12_3819-9delinsTTTA)
c.4095-12_4095-9delinsTTTA (n.4095-12_4095-9delinsTTTA)
c.3912-12_3912-9delinsTTTA (n.3912-12_3912-9delinsTTTA)
c.3798-12_3798-9delinsTTTA (n.3798-12_3798-9delinsTTTA)
c.3189-12_3189-9delinsTTTA (n.3189-12_3189-9delinsTTTA)
2g.47806770_47806774dupCA532705575FBXO11,MSH6c.3705-9_3705-5dup (n.3705-9_3705-5dup)
c.3618-9_3618-5dup (n.3618-9_3618-5dup)
n.4676-9_4676-5dup
c.2436-9_2436-5dup (n.2436-9_2436-5dup)
c.4008-9_4008-5dup (n.4008-9_4008-5dup)
c.1457-9_1457-5dup (n.1457-9_1457-5dup)
c.2775-9_2775-5dup (n.2775-9_2775-5dup)
n.2971_2975dup
n.2597-9_2597-5dup
n.2264-9_2264-5dup
n.2666-9_2666-5dup
n.1411-9_1411-5dup
n.3296-9_3296-5dup
n.3977_3981dup
n.4239_4243dup
c.4002-9_4002-5dup (n.4002-9_4002-5dup)
c.3612-9_3612-5dup (n.3612-9_3612-5dup)
c.169+1424_169+1428dup (n.169+1424_169+1428dup)
c.*124+1223_*124+1227dup (n.*124+1223_*124+1227dup)
c.*3349-9_*3349-5dup (n.*3349-9_*3349-5dup)
n.3139_3143dup
c.3096-9_3096-5dup (n.3096-9_3096-5dup)
c.903-9_903-5dup (n.903-9_903-5dup)
c.3819-9_3819-5dup (n.3819-9_3819-5dup)
c.4095-9_4095-5dup (n.4095-9_4095-5dup)
c.3912-9_3912-5dup (n.3912-9_3912-5dup)
c.3798-9_3798-5dup (n.3798-9_3798-5dup)
c.3189-9_3189-5dup (n.3189-9_3189-5dup)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.47806770_47806774delCA2739274451FBXO11,MSH6c.3705-9_3705-5del (n.3705-9_3705-5del)
c.3618-9_3618-5del (n.3618-9_3618-5del)
n.4676-9_4676-5del
c.2436-9_2436-5del (n.2436-9_2436-5del)
c.4008-9_4008-5del (n.4008-9_4008-5del)
c.1457-9_1457-5del (n.1457-9_1457-5del)
c.2775-9_2775-5del (n.2775-9_2775-5del)
n.2971_2975del
n.2597-9_2597-5del
n.2264-9_2264-5del
n.2666-9_2666-5del
n.1411-9_1411-5del
n.3296-9_3296-5del
n.3977_3981del
n.4239_4243del
c.4002-9_4002-5del (n.4002-9_4002-5del)
c.3612-9_3612-5del (n.3612-9_3612-5del)
c.169+1424_169+1428del (n.169+1424_169+1428del)
c.*124+1223_*124+1227del (n.*124+1223_*124+1227del)
c.*3349-9_*3349-5del (n.*3349-9_*3349-5del)
n.3139_3143del
c.3096-9_3096-5del (n.3096-9_3096-5del)
c.903-9_903-5del (n.903-9_903-5del)
c.3819-9_3819-5del (n.3819-9_3819-5del)
c.4095-9_4095-5del (n.4095-9_4095-5del)
c.3912-9_3912-5del (n.3912-9_3912-5del)
c.3798-9_3798-5del (n.3798-9_3798-5del)
c.3189-9_3189-5del (n.3189-9_3189-5del)
ClinVar
2g.47806767_47806768insAACA2658970163FBXO11,MSH6c.3705-12_3705-11insAA (n.3705-12_3705-11insAA)
c.3618-12_3618-11insAA (n.3618-12_3618-11insAA)
n.4676-12_4676-11insAA
c.2436-12_2436-11insAA (n.2436-12_2436-11insAA)
c.4008-12_4008-11insAA (n.4008-12_4008-11insAA)
c.1457-12_1457-11insAA (n.1457-12_1457-11insAA)
c.2775-12_2775-11insAA (n.2775-12_2775-11insAA)
n.2968_2969insAA
n.2597-12_2597-11insAA
n.2264-12_2264-11insAA
n.2666-12_2666-11insAA
n.1411-12_1411-11insAA
n.3296-12_3296-11insAA
n.3980_3981insTT
n.4242_4243insTT
c.4002-12_4002-11insAA (n.4002-12_4002-11insAA)
c.3612-12_3612-11insAA (n.3612-12_3612-11insAA)
c.169+1427_169+1428insTT (n.169+1427_169+1428insTT)
c.*124+1226_*124+1227insTT (n.*124+1226_*124+1227insTT)
c.*3349-12_*3349-11insAA (n.*3349-12_*3349-11insAA)
n.3142_3143insTT
c.3096-12_3096-11insAA (n.3096-12_3096-11insAA)
c.903-12_903-11insAA (n.903-12_903-11insAA)
c.3819-12_3819-11insAA (n.3819-12_3819-11insAA)
c.4095-12_4095-11insAA (n.4095-12_4095-11insAA)
c.3912-12_3912-11insAA (n.3912-12_3912-11insAA)
c.3798-12_3798-11insAA (n.3798-12_3798-11insAA)
c.3189-12_3189-11insAA (n.3189-12_3189-11insAA)
gnomAD v4
2g.47806768T>ACA532705578FBXO11,MSH6c.3705-11T>A (n.3705-11T>A)
c.3618-11T>A (n.3618-11T>A)
n.4676-11T>A
c.2436-11T>A (n.2436-11T>A)
c.4008-11T>A (n.4008-11T>A)
c.1457-11T>A (n.1457-11T>A)
c.2775-11T>A (n.2775-11T>A)
n.2969T>A
n.2597-11T>A
n.2264-11T>A
n.2666-11T>A
n.1411-11T>A
n.3296-11T>A
n.3980A>T
n.4242A>T
c.4002-11T>A (n.4002-11T>A)
c.3612-11T>A (n.3612-11T>A)
c.169+1427A>T (n.169+1427A>T)
c.*124+1226A>T (n.*124+1226A>T)
c.*3349-11T>A (n.*3349-11T>A)
n.3142A>T
c.3096-11T>A (n.3096-11T>A)
c.903-11T>A (n.903-11T>A)
c.3819-11T>A (n.3819-11T>A)
c.4095-11T>A (n.4095-11T>A)
c.3912-11T>A (n.3912-11T>A)
c.3798-11T>A (n.3798-11T>A)
c.3189-11T>A (n.3189-11T>A)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.47806768T>CCA2658970159FBXO11,MSH6c.3705-11T>C (n.3705-11T>C)
c.3618-11T>C (n.3618-11T>C)
n.4676-11T>C
c.2436-11T>C (n.2436-11T>C)
c.4008-11T>C (n.4008-11T>C)
c.1457-11T>C (n.1457-11T>C)
c.2775-11T>C (n.2775-11T>C)
n.2969T>C
n.2597-11T>C
n.2264-11T>C
n.2666-11T>C
n.1411-11T>C
n.3296-11T>C
n.3980A>G
n.4242A>G
c.4002-11T>C (n.4002-11T>C)
c.3612-11T>C (n.3612-11T>C)
c.169+1427A>G (n.169+1427A>G)
c.*124+1226A>G (n.*124+1226A>G)
c.*3349-11T>C (n.*3349-11T>C)
n.3142A>G
c.3096-11T>C (n.3096-11T>C)
c.903-11T>C (n.903-11T>C)
c.3819-11T>C (n.3819-11T>C)
c.4095-11T>C (n.4095-11T>C)
c.3912-11T>C (n.3912-11T>C)
c.3798-11T>C (n.3798-11T>C)
c.3189-11T>C (n.3189-11T>C)
gnomAD v4
2g.47806768T>GCA913188075FBXO11,MSH6c.3705-11T>G (n.3705-11T>G)
c.3618-11T>G (n.3618-11T>G)
n.4676-11T>G
c.2436-11T>G (n.2436-11T>G)
c.4008-11T>G (n.4008-11T>G)
c.1457-11T>G (n.1457-11T>G)
c.2775-11T>G (n.2775-11T>G)
n.2969T>G
n.2597-11T>G
n.2264-11T>G
n.2666-11T>G
n.1411-11T>G
n.3296-11T>G
n.3980A>C
n.4242A>C
c.4002-11T>G (n.4002-11T>G)
c.3612-11T>G (n.3612-11T>G)
c.169+1427A>C (n.169+1427A>C)
c.*124+1226A>C (n.*124+1226A>C)
c.*3349-11T>G (n.*3349-11T>G)
n.3142A>C
c.3096-11T>G (n.3096-11T>G)
c.903-11T>G (n.903-11T>G)
c.3819-11T>G (n.3819-11T>G)
c.4095-11T>G (n.4095-11T>G)
c.3912-11T>G (n.3912-11T>G)
c.3798-11T>G (n.3798-11T>G)
c.3189-11T>G (n.3189-11T>G)
ClinVar dbSNP
2g.47806768T=CA2496054510FBXO11,MSH6c.3705-11T= (n.3705-11T=)
c.3618-11T= (n.3618-11T=)
n.4676-11T=
c.2436-11T= (n.2436-11T=)
c.4008-11T= (n.4008-11T=)
c.1457-11T= (n.1457-11T=)
c.2775-11T= (n.2775-11T=)
n.2969T=
n.2597-11T=
n.2264-11T=
n.2666-11T=
n.1411-11T=
n.3296-11T=
n.3980A=
n.4242A=
c.4002-11T= (n.4002-11T=)
c.3612-11T= (n.3612-11T=)
c.169+1427A= (n.169+1427A=)
c.*124+1226A= (n.*124+1226A=)
c.*3349-11T= (n.*3349-11T=)
n.3142A=
c.3096-11T= (n.3096-11T=)
c.903-11T= (n.903-11T=)
c.3819-11T= (n.3819-11T=)
c.4095-11T= (n.4095-11T=)
c.3912-11T= (n.3912-11T=)
c.3798-11T= (n.3798-11T=)
c.3189-11T= (n.3189-11T=)
2g.47806768_47806769insAATCA532705577FBXO11,MSH6c.3705-11_3705-10insAAT (n.3705-11_3705-10insAAT)
c.3618-11_3618-10insAAT (n.3618-11_3618-10insAAT)
n.4676-11_4676-10insAAT
c.2436-11_2436-10insAAT (n.2436-11_2436-10insAAT)
c.4008-11_4008-10insAAT (n.4008-11_4008-10insAAT)
c.1457-11_1457-10insAAT (n.1457-11_1457-10insAAT)
c.2775-11_2775-10insAAT (n.2775-11_2775-10insAAT)
n.2969_2970insAAT
n.2597-11_2597-10insAAT
n.2264-11_2264-10insAAT
n.2666-11_2666-10insAAT
n.1411-11_1411-10insAAT
n.3296-11_3296-10insAAT
n.3980_3981insTTA
n.4242_4243insTTA
c.4002-11_4002-10insAAT (n.4002-11_4002-10insAAT)
c.3612-11_3612-10insAAT (n.3612-11_3612-10insAAT)
c.169+1427_169+1428insTTA (n.169+1427_169+1428insTTA)
c.*124+1226_*124+1227insTTA (n.*124+1226_*124+1227insTTA)
c.*3349-11_*3349-10insAAT (n.*3349-11_*3349-10insAAT)
n.3142_3143insTTA
c.3096-11_3096-10insAAT (n.3096-11_3096-10insAAT)
c.903-11_903-10insAAT (n.903-11_903-10insAAT)
c.3819-11_3819-10insAAT (n.3819-11_3819-10insAAT)
c.4095-11_4095-10insAAT (n.4095-11_4095-10insAAT)
c.3912-11_3912-10insAAT (n.3912-11_3912-10insAAT)
c.3798-11_3798-10insAAT (n.3798-11_3798-10insAAT)
c.3189-11_3189-10insAAT (n.3189-11_3189-10insAAT)
ClinVar dbSNP gnomAD v2 gnomAD v4
2g.47806768_47806769delinsACA658822274FBXO11,MSH6c.3705-11_3705-10delinsA (n.3705-11_3705-10delinsA)
c.3618-11_3618-10delinsA (n.3618-11_3618-10delinsA)
n.4676-11_4676-10delinsA
c.2436-11_2436-10delinsA (n.2436-11_2436-10delinsA)
c.4008-11_4008-10delinsA (n.4008-11_4008-10delinsA)
c.1457-11_1457-10delinsA (n.1457-11_1457-10delinsA)
c.2775-11_2775-10delinsA (n.2775-11_2775-10delinsA)
n.2969_2970delinsA
n.2597-11_2597-10delinsA
n.2264-11_2264-10delinsA
n.2666-11_2666-10delinsA
n.1411-11_1411-10delinsA
n.3296-11_3296-10delinsA
n.3979_3980delinsT
n.4241_4242delinsT
c.4002-11_4002-10delinsA (n.4002-11_4002-10delinsA)
c.3612-11_3612-10delinsA (n.3612-11_3612-10delinsA)
c.169+1426_169+1427delinsT (n.169+1426_169+1427delinsT)
c.*124+1225_*124+1226delinsT (n.*124+1225_*124+1226delinsT)
c.*3349-11_*3349-10delinsA (n.*3349-11_*3349-10delinsA)
n.3141_3142delinsT
c.3096-11_3096-10delinsA (n.3096-11_3096-10delinsA)
c.903-11_903-10delinsA (n.903-11_903-10delinsA)
c.3819-11_3819-10delinsA (n.3819-11_3819-10delinsA)
c.4095-11_4095-10delinsA (n.4095-11_4095-10delinsA)
c.3912-11_3912-10delinsA (n.3912-11_3912-10delinsA)
c.3798-11_3798-10delinsA (n.3798-11_3798-10delinsA)
c.3189-11_3189-10delinsA (n.3189-11_3189-10delinsA)
ClinVar dbSNP
2g.47806769_47806770insTAATTCA769468621FBXO11,MSH6c.3705-10_3705-9insTAATT (n.3705-10_3705-9insTAATT)
c.3618-10_3618-9insTAATT (n.3618-10_3618-9insTAATT)
n.4676-10_4676-9insTAATT
c.2436-10_2436-9insTAATT (n.2436-10_2436-9insTAATT)
c.4008-10_4008-9insTAATT (n.4008-10_4008-9insTAATT)
c.1457-10_1457-9insTAATT (n.1457-10_1457-9insTAATT)
c.2775-10_2775-9insTAATT (n.2775-10_2775-9insTAATT)
n.2970_2971insTAATT
n.2597-10_2597-9insTAATT
n.2264-10_2264-9insTAATT
n.2666-10_2666-9insTAATT
n.1411-10_1411-9insTAATT
n.3296-10_3296-9insTAATT
n.3980_3981insTTAAA
n.4242_4243insTTAAA
c.4002-10_4002-9insTAATT (n.4002-10_4002-9insTAATT)
c.3612-10_3612-9insTAATT (n.3612-10_3612-9insTAATT)
c.169+1427_169+1428insTTAAA (n.169+1427_169+1428insTTAAA)
c.*124+1226_*124+1227insTTAAA (n.*124+1226_*124+1227insTTAAA)
c.*3349-10_*3349-9insTAATT (n.*3349-10_*3349-9insTAATT)
n.3142_3143insTTAAA
c.3096-10_3096-9insTAATT (n.3096-10_3096-9insTAATT)
c.903-10_903-9insTAATT (n.903-10_903-9insTAATT)
c.3819-10_3819-9insTAATT (n.3819-10_3819-9insTAATT)
c.4095-10_4095-9insTAATT (n.4095-10_4095-9insTAATT)
c.3912-10_3912-9insTAATT (n.3912-10_3912-9insTAATT)
c.3798-10_3798-9insTAATT (n.3798-10_3798-9insTAATT)
c.3189-10_3189-9insTAATT (n.3189-10_3189-9insTAATT)
dbSNP
2g.47806768_47806770delCA072620FBXO11,MSH6c.3705-11_3705-9del (n.3705-11_3705-9del)
c.3618-11_3618-9del (n.3618-11_3618-9del)
n.4676-11_4676-9del
c.2436-11_2436-9del (n.2436-11_2436-9del)
c.4008-11_4008-9del (n.4008-11_4008-9del)
c.1457-11_1457-9del (n.1457-11_1457-9del)
c.2775-11_2775-9del (n.2775-11_2775-9del)
n.2969_2971del
n.2597-11_2597-9del
n.2264-11_2264-9del
n.2666-11_2666-9del
n.1411-11_1411-9del
n.3296-11_3296-9del
n.3978_3980del
n.4240_4242del
c.4002-11_4002-9del (n.4002-11_4002-9del)
c.3612-11_3612-9del (n.3612-11_3612-9del)
c.169+1425_169+1427del (n.169+1425_169+1427del)
c.*124+1224_*124+1226del (n.*124+1224_*124+1226del)
c.*3349-11_*3349-9del (n.*3349-11_*3349-9del)
n.3140_3142del
c.3096-11_3096-9del (n.3096-11_3096-9del)
c.903-11_903-9del (n.903-11_903-9del)
c.3819-11_3819-9del (n.3819-11_3819-9del)
c.4095-11_4095-9del (n.4095-11_4095-9del)
c.3912-11_3912-9del (n.3912-11_3912-9del)
c.3798-11_3798-9del (n.3798-11_3798-9del)
c.3189-11_3189-9del (n.3189-11_3189-9del)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.47806768_47806771delinsTTAACA2496054511FBXO11,MSH6c.3705-11_3705-8delinsTTAA (n.3705-11_3705-8delinsTTAA)
c.3618-11_3618-8delinsTTAA (n.3618-11_3618-8delinsTTAA)
n.4676-11_4676-8delinsTTAA
c.2436-11_2436-8delinsTTAA (n.2436-11_2436-8delinsTTAA)
c.4008-11_4008-8delinsTTAA (n.4008-11_4008-8delinsTTAA)
c.1457-11_1457-8delinsTTAA (n.1457-11_1457-8delinsTTAA)
c.2775-11_2775-8delinsTTAA (n.2775-11_2775-8delinsTTAA)
n.2969_2972delinsTTAA
n.2597-11_2597-8delinsTTAA
n.2264-11_2264-8delinsTTAA
n.2666-11_2666-8delinsTTAA
n.1411-11_1411-8delinsTTAA
n.3296-11_3296-8delinsTTAA
n.3977_3980delinsTTAA
n.4239_4242delinsTTAA
c.4002-11_4002-8delinsTTAA (n.4002-11_4002-8delinsTTAA)
c.3612-11_3612-8delinsTTAA (n.3612-11_3612-8delinsTTAA)
c.169+1424_169+1427delinsTTAA (n.169+1424_169+1427delinsTTAA)
c.*124+1223_*124+1226delinsTTAA (n.*124+1223_*124+1226delinsTTAA)
c.*3349-11_*3349-8delinsTTAA (n.*3349-11_*3349-8delinsTTAA)
n.3139_3142delinsTTAA
c.3096-11_3096-8delinsTTAA (n.3096-11_3096-8delinsTTAA)
c.903-11_903-8delinsTTAA (n.903-11_903-8delinsTTAA)
c.3819-11_3819-8delinsTTAA (n.3819-11_3819-8delinsTTAA)
c.4095-11_4095-8delinsTTAA (n.4095-11_4095-8delinsTTAA)
c.3912-11_3912-8delinsTTAA (n.3912-11_3912-8delinsTTAA)
c.3798-11_3798-8delinsTTAA (n.3798-11_3798-8delinsTTAA)
c.3189-11_3189-8delinsTTAA (n.3189-11_3189-8delinsTTAA)
2g.47806770_47806773dupCA532705576FBXO11,MSH6c.3705-9_3705-6dup (n.3705-9_3705-6dup)
c.3618-9_3618-6dup (n.3618-9_3618-6dup)
n.4676-9_4676-6dup
c.2436-9_2436-6dup (n.2436-9_2436-6dup)
c.4008-9_4008-6dup (n.4008-9_4008-6dup)
c.1457-9_1457-6dup (n.1457-9_1457-6dup)
c.2775-9_2775-6dup (n.2775-9_2775-6dup)
n.2971_2974dup
n.2597-9_2597-6dup
n.2264-9_2264-6dup
n.2666-9_2666-6dup
n.1411-9_1411-6dup
n.3296-9_3296-6dup
n.3977_3980dup
n.4239_4242dup
c.4002-9_4002-6dup (n.4002-9_4002-6dup)
c.3612-9_3612-6dup (n.3612-9_3612-6dup)
c.169+1424_169+1427dup (n.169+1424_169+1427dup)
c.*124+1223_*124+1226dup (n.*124+1223_*124+1226dup)
c.*3349-9_*3349-6dup (n.*3349-9_*3349-6dup)
n.3139_3142dup
c.3096-9_3096-6dup (n.3096-9_3096-6dup)
c.903-9_903-6dup (n.903-9_903-6dup)
c.3819-9_3819-6dup (n.3819-9_3819-6dup)
c.4095-9_4095-6dup (n.4095-9_4095-6dup)
c.3912-9_3912-6dup (n.3912-9_3912-6dup)
c.3798-9_3798-6dup (n.3798-9_3798-6dup)
c.3189-9_3189-6dup (n.3189-9_3189-6dup)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.47806768_47806769insAACA532705579FBXO11,MSH6c.3705-11_3705-10insAA (n.3705-11_3705-10insAA)
c.3618-11_3618-10insAA (n.3618-11_3618-10insAA)
n.4676-11_4676-10insAA
c.2436-11_2436-10insAA (n.2436-11_2436-10insAA)
c.4008-11_4008-10insAA (n.4008-11_4008-10insAA)
c.1457-11_1457-10insAA (n.1457-11_1457-10insAA)
c.2775-11_2775-10insAA (n.2775-11_2775-10insAA)
n.2969_2970insAA
n.2597-11_2597-10insAA
n.2264-11_2264-10insAA
n.2666-11_2666-10insAA
n.1411-11_1411-10insAA
n.3296-11_3296-10insAA
n.3979_3980insTT
n.4241_4242insTT
c.4002-11_4002-10insAA (n.4002-11_4002-10insAA)
c.3612-11_3612-10insAA (n.3612-11_3612-10insAA)
c.169+1426_169+1427insTT (n.169+1426_169+1427insTT)
c.*124+1225_*124+1226insTT (n.*124+1225_*124+1226insTT)
c.*3349-11_*3349-10insAA (n.*3349-11_*3349-10insAA)
n.3141_3142insTT
c.3096-11_3096-10insAA (n.3096-11_3096-10insAA)
c.903-11_903-10insAA (n.903-11_903-10insAA)
c.3819-11_3819-10insAA (n.3819-11_3819-10insAA)
c.4095-11_4095-10insAA (n.4095-11_4095-10insAA)
c.3912-11_3912-10insAA (n.3912-11_3912-10insAA)
c.3798-11_3798-10insAA (n.3798-11_3798-10insAA)
c.3189-11_3189-10insAA (n.3189-11_3189-10insAA)
gnomAD v2 gnomAD v4
2g.47806769T>ACA015230FBXO11,MSH6c.3705-10T>A (n.3705-10T>A)
c.3618-10T>A (n.3618-10T>A)
n.4676-10T>A
c.2436-10T>A (n.2436-10T>A)
c.4008-10T>A (n.4008-10T>A)
c.1457-10T>A (n.1457-10T>A)
c.2775-10T>A (n.2775-10T>A)
n.2970T>A
n.2597-10T>A
n.2264-10T>A
n.2666-10T>A
n.1411-10T>A
n.3296-10T>A
n.3979A>T
n.4241A>T
c.4002-10T>A (n.4002-10T>A)
c.3612-10T>A (n.3612-10T>A)
c.169+1426A>T (n.169+1426A>T)
c.*124+1225A>T (n.*124+1225A>T)
c.*3349-10T>A (n.*3349-10T>A)
n.3141A>T
c.3096-10T>A (n.3096-10T>A)
c.903-10T>A (n.903-10T>A)
c.3819-10T>A (n.3819-10T>A)
c.4095-10T>A (n.4095-10T>A)
c.3912-10T>A (n.3912-10T>A)
c.3798-10T>A (n.3798-10T>A)
c.3189-10T>A (n.3189-10T>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.47806769T>CCA2573134805FBXO11,MSH6c.3705-10T>C (n.3705-10T>C)
c.3618-10T>C (n.3618-10T>C)
n.4676-10T>C
c.2436-10T>C (n.2436-10T>C)
c.4008-10T>C (n.4008-10T>C)
c.1457-10T>C (n.1457-10T>C)
c.2775-10T>C (n.2775-10T>C)
n.2970T>C
n.2597-10T>C
n.2264-10T>C
n.2666-10T>C
n.1411-10T>C
n.3296-10T>C
n.3979A>G
n.4241A>G
c.4002-10T>C (n.4002-10T>C)
c.3612-10T>C (n.3612-10T>C)
c.169+1426A>G (n.169+1426A>G)
c.*124+1225A>G (n.*124+1225A>G)
c.*3349-10T>C (n.*3349-10T>C)
n.3141A>G
c.3096-10T>C (n.3096-10T>C)
c.903-10T>C (n.903-10T>C)
c.3819-10T>C (n.3819-10T>C)
c.4095-10T>C (n.4095-10T>C)
c.3912-10T>C (n.3912-10T>C)
c.3798-10T>C (n.3798-10T>C)
c.3189-10T>C (n.3189-10T>C)
ClinVar dbSNP
2g.47806769T>GCA16617724FBXO11,MSH6c.3705-10T>G (n.3705-10T>G)
c.3618-10T>G (n.3618-10T>G)
n.4676-10T>G
c.2436-10T>G (n.2436-10T>G)
c.4008-10T>G (n.4008-10T>G)
c.1457-10T>G (n.1457-10T>G)
c.2775-10T>G (n.2775-10T>G)
n.2970T>G
n.2597-10T>G
n.2264-10T>G
n.2666-10T>G
n.1411-10T>G
n.3296-10T>G
n.3979A>C
n.4241A>C
c.4002-10T>G (n.4002-10T>G)
c.3612-10T>G (n.3612-10T>G)
c.169+1426A>C (n.169+1426A>C)
c.*124+1225A>C (n.*124+1225A>C)
c.*3349-10T>G (n.*3349-10T>G)
n.3141A>C
c.3096-10T>G (n.3096-10T>G)
c.903-10T>G (n.903-10T>G)
c.3819-10T>G (n.3819-10T>G)
c.4095-10T>G (n.4095-10T>G)
c.3912-10T>G (n.3912-10T>G)
c.3798-10T>G (n.3798-10T>G)
c.3189-10T>G (n.3189-10T>G)
ClinVar dbSNP
2g.47806769T=CA2496054513FBXO11,MSH6c.3705-10T= (n.3705-10T=)
c.3618-10T= (n.3618-10T=)
n.4676-10T=
c.2436-10T= (n.2436-10T=)
c.4008-10T= (n.4008-10T=)
c.1457-10T= (n.1457-10T=)
c.2775-10T= (n.2775-10T=)
n.2970T=
n.2597-10T=
n.2264-10T=
n.2666-10T=
n.1411-10T=
n.3296-10T=
n.3979A=
n.4241A=
c.4002-10T= (n.4002-10T=)
c.3612-10T= (n.3612-10T=)
c.169+1426A= (n.169+1426A=)
c.*124+1225A= (n.*124+1225A=)
c.*3349-10T= (n.*3349-10T=)
n.3141A=
c.3096-10T= (n.3096-10T=)
c.903-10T= (n.903-10T=)
c.3819-10T= (n.3819-10T=)
c.4095-10T= (n.4095-10T=)
c.3912-10T= (n.3912-10T=)
c.3798-10T= (n.3798-10T=)
c.3189-10T= (n.3189-10T=)
2g.47806769_47806770delCA426122247FBXO11,MSH6c.3705-10_3705-9del (n.3705-10_3705-9del)
c.3618-10_3618-9del (n.3618-10_3618-9del)
n.4676-10_4676-9del
c.2436-10_2436-9del (n.2436-10_2436-9del)
c.4008-10_4008-9del (n.4008-10_4008-9del)
c.1457-10_1457-9del (n.1457-10_1457-9del)
c.2775-10_2775-9del (n.2775-10_2775-9del)
n.2970_2971del
n.2597-10_2597-9del
n.2264-10_2264-9del
n.2666-10_2666-9del
n.1411-10_1411-9del
n.3296-10_3296-9del
n.3978_3979del
n.4240_4241del
c.4002-10_4002-9del (n.4002-10_4002-9del)
c.3612-10_3612-9del (n.3612-10_3612-9del)
c.169+1425_169+1426del (n.169+1425_169+1426del)
c.*124+1224_*124+1225del (n.*124+1224_*124+1225del)
c.*3349-10_*3349-9del (n.*3349-10_*3349-9del)
n.3140_3141del
c.3096-10_3096-9del (n.3096-10_3096-9del)
c.903-10_903-9del (n.903-10_903-9del)
c.3819-10_3819-9del (n.3819-10_3819-9del)
c.4095-10_4095-9del (n.4095-10_4095-9del)
c.3912-10_3912-9del (n.3912-10_3912-9del)
c.3798-10_3798-9del (n.3798-10_3798-9del)
c.3189-10_3189-9del (n.3189-10_3189-9del)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.47806769_47806770delinsTACA2496054512FBXO11,MSH6c.3705-10_3705-9delinsTA (n.3705-10_3705-9delinsTA)
c.3618-10_3618-9delinsTA (n.3618-10_3618-9delinsTA)
n.4676-10_4676-9delinsTA
c.2436-10_2436-9delinsTA (n.2436-10_2436-9delinsTA)
c.4008-10_4008-9delinsTA (n.4008-10_4008-9delinsTA)
c.1457-10_1457-9delinsTA (n.1457-10_1457-9delinsTA)
c.2775-10_2775-9delinsTA (n.2775-10_2775-9delinsTA)
n.2970_2971delinsTA
n.2597-10_2597-9delinsTA
n.2264-10_2264-9delinsTA
n.2666-10_2666-9delinsTA
n.1411-10_1411-9delinsTA
n.3296-10_3296-9delinsTA
n.3978_3979delinsTA
n.4240_4241delinsTA
c.4002-10_4002-9delinsTA (n.4002-10_4002-9delinsTA)
c.3612-10_3612-9delinsTA (n.3612-10_3612-9delinsTA)
c.169+1425_169+1426delinsTA (n.169+1425_169+1426delinsTA)
c.*124+1224_*124+1225delinsTA (n.*124+1224_*124+1225delinsTA)
c.*3349-10_*3349-9delinsTA (n.*3349-10_*3349-9delinsTA)
n.3140_3141delinsTA
c.3096-10_3096-9delinsTA (n.3096-10_3096-9delinsTA)
c.903-10_903-9delinsTA (n.903-10_903-9delinsTA)
c.3819-10_3819-9delinsTA (n.3819-10_3819-9delinsTA)
c.4095-10_4095-9delinsTA (n.4095-10_4095-9delinsTA)
c.3912-10_3912-9delinsTA (n.3912-10_3912-9delinsTA)
c.3798-10_3798-9delinsTA (n.3798-10_3798-9delinsTA)
c.3189-10_3189-9delinsTA (n.3189-10_3189-9delinsTA)
2g.47806769_47806771delinsTAACA2496054514FBXO11,MSH6c.3705-10_3705-8delinsTAA (n.3705-10_3705-8delinsTAA)
c.3618-10_3618-8delinsTAA (n.3618-10_3618-8delinsTAA)
n.4676-10_4676-8delinsTAA
c.2436-10_2436-8delinsTAA (n.2436-10_2436-8delinsTAA)
c.4008-10_4008-8delinsTAA (n.4008-10_4008-8delinsTAA)
c.1457-10_1457-8delinsTAA (n.1457-10_1457-8delinsTAA)
c.2775-10_2775-8delinsTAA (n.2775-10_2775-8delinsTAA)
n.2970_2972delinsTAA
n.2597-10_2597-8delinsTAA
n.2264-10_2264-8delinsTAA
n.2666-10_2666-8delinsTAA
n.1411-10_1411-8delinsTAA
n.3296-10_3296-8delinsTAA
n.3977_3979delinsTTA
n.4239_4241delinsTTA
c.4002-10_4002-8delinsTAA (n.4002-10_4002-8delinsTAA)
c.3612-10_3612-8delinsTAA (n.3612-10_3612-8delinsTAA)
c.169+1424_169+1426delinsTTA (n.169+1424_169+1426delinsTTA)
c.*124+1223_*124+1225delinsTTA (n.*124+1223_*124+1225delinsTTA)
c.*3349-10_*3349-8delinsTAA (n.*3349-10_*3349-8delinsTAA)
n.3139_3141delinsTTA
c.3096-10_3096-8delinsTAA (n.3096-10_3096-8delinsTAA)
c.903-10_903-8delinsTAA (n.903-10_903-8delinsTAA)
c.3819-10_3819-8delinsTAA (n.3819-10_3819-8delinsTAA)
c.4095-10_4095-8delinsTAA (n.4095-10_4095-8delinsTAA)
c.3912-10_3912-8delinsTAA (n.3912-10_3912-8delinsTAA)
c.3798-10_3798-8delinsTAA (n.3798-10_3798-8delinsTAA)
c.3189-10_3189-8delinsTAA (n.3189-10_3189-8delinsTAA)
2g.47806770_47806772delCA072615FBXO11,MSH6c.3705-9_3705-7del (n.3705-9_3705-7del)
c.3618-9_3618-7del (n.3618-9_3618-7del)
n.4676-9_4676-7del
c.2436-9_2436-7del (n.2436-9_2436-7del)
c.4008-9_4008-7del (n.4008-9_4008-7del)
c.1457-9_1457-7del (n.1457-9_1457-7del)
c.2775-9_2775-7del (n.2775-9_2775-7del)
n.2971_2973del
n.2597-9_2597-7del
n.2264-9_2264-7del
n.2666-9_2666-7del
n.1411-9_1411-7del
n.3296-9_3296-7del
n.3977_3979del
n.4239_4241del
c.4002-9_4002-7del (n.4002-9_4002-7del)
c.3612-9_3612-7del (n.3612-9_3612-7del)
c.169+1424_169+1426del (n.169+1424_169+1426del)
c.*124+1223_*124+1225del (n.*124+1223_*124+1225del)
c.*3349-9_*3349-7del (n.*3349-9_*3349-7del)
n.3139_3141del
c.3096-9_3096-7del (n.3096-9_3096-7del)
c.903-9_903-7del (n.903-9_903-7del)
c.3819-9_3819-7del (n.3819-9_3819-7del)
c.4095-9_4095-7del (n.4095-9_4095-7del)
c.3912-9_3912-7del (n.3912-9_3912-7del)
c.3798-9_3798-7del (n.3798-9_3798-7del)
c.3189-9_3189-7del (n.3189-9_3189-7del)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.47806769_47806770insTACA2580067582FBXO11,MSH6c.3705-10_3705-9insTA (n.3705-10_3705-9insTA)
c.3618-10_3618-9insTA (n.3618-10_3618-9insTA)
n.4676-10_4676-9insTA
c.2436-10_2436-9insTA (n.2436-10_2436-9insTA)
c.4008-10_4008-9insTA (n.4008-10_4008-9insTA)
c.1457-10_1457-9insTA (n.1457-10_1457-9insTA)
c.2775-10_2775-9insTA (n.2775-10_2775-9insTA)
n.2970_2971insTA
n.2597-10_2597-9insTA
n.2264-10_2264-9insTA
n.2666-10_2666-9insTA
n.1411-10_1411-9insTA
n.3296-10_3296-9insTA
n.3978_3979insTA
n.4240_4241insTA
c.4002-10_4002-9insTA (n.4002-10_4002-9insTA)
c.3612-10_3612-9insTA (n.3612-10_3612-9insTA)
c.169+1425_169+1426insTA (n.169+1425_169+1426insTA)
c.*124+1224_*124+1225insTA (n.*124+1224_*124+1225insTA)
c.*3349-10_*3349-9insTA (n.*3349-10_*3349-9insTA)
n.3140_3141insTA
c.3096-10_3096-9insTA (n.3096-10_3096-9insTA)
c.903-10_903-9insTA (n.903-10_903-9insTA)
c.3819-10_3819-9insTA (n.3819-10_3819-9insTA)
c.4095-10_4095-9insTA (n.4095-10_4095-9insTA)
c.3912-10_3912-9insTA (n.3912-10_3912-9insTA)
c.3798-10_3798-9insTA (n.3798-10_3798-9insTA)
c.3189-10_3189-9insTA (n.3189-10_3189-9insTA)
ClinVar gnomAD v4
2g.47806769_47806770insTAACA2658970187FBXO11,MSH6c.3705-10_3705-9insTAA (n.3705-10_3705-9insTAA)
c.3618-10_3618-9insTAA (n.3618-10_3618-9insTAA)
n.4676-10_4676-9insTAA
c.2436-10_2436-9insTAA (n.2436-10_2436-9insTAA)
c.4008-10_4008-9insTAA (n.4008-10_4008-9insTAA)
c.1457-10_1457-9insTAA (n.1457-10_1457-9insTAA)
c.2775-10_2775-9insTAA (n.2775-10_2775-9insTAA)
n.2970_2971insTAA
n.2597-10_2597-9insTAA
n.2264-10_2264-9insTAA
n.2666-10_2666-9insTAA
n.1411-10_1411-9insTAA
n.3296-10_3296-9insTAA
n.3978_3979insTTA
n.4240_4241insTTA
c.4002-10_4002-9insTAA (n.4002-10_4002-9insTAA)
c.3612-10_3612-9insTAA (n.3612-10_3612-9insTAA)
c.169+1425_169+1426insTTA (n.169+1425_169+1426insTTA)
c.*124+1224_*124+1225insTTA (n.*124+1224_*124+1225insTTA)
c.*3349-10_*3349-9insTAA (n.*3349-10_*3349-9insTAA)
n.3140_3141insTTA
c.3096-10_3096-9insTAA (n.3096-10_3096-9insTAA)
c.903-10_903-9insTAA (n.903-10_903-9insTAA)
c.3819-10_3819-9insTAA (n.3819-10_3819-9insTAA)
c.4095-10_4095-9insTAA (n.4095-10_4095-9insTAA)
c.3912-10_3912-9insTAA (n.3912-10_3912-9insTAA)
c.3798-10_3798-9insTAA (n.3798-10_3798-9insTAA)
c.3189-10_3189-9insTAA (n.3189-10_3189-9insTAA)
gnomAD v4
2g.47806769_47806770insTTACA1030297730FBXO11,MSH6c.3705-10_3705-9insTTA (n.3705-10_3705-9insTTA)
c.3618-10_3618-9insTTA (n.3618-10_3618-9insTTA)
n.4676-10_4676-9insTTA
c.2436-10_2436-9insTTA (n.2436-10_2436-9insTTA)
c.4008-10_4008-9insTTA (n.4008-10_4008-9insTTA)
c.1457-10_1457-9insTTA (n.1457-10_1457-9insTTA)
c.2775-10_2775-9insTTA (n.2775-10_2775-9insTTA)
n.2970_2971insTTA
n.2597-10_2597-9insTTA
n.2264-10_2264-9insTTA
n.2666-10_2666-9insTTA
n.1411-10_1411-9insTTA
n.3296-10_3296-9insTTA
n.3978_3979insTAA
n.4240_4241insTAA
c.4002-10_4002-9insTTA (n.4002-10_4002-9insTTA)
c.3612-10_3612-9insTTA (n.3612-10_3612-9insTTA)
c.169+1425_169+1426insTAA (n.169+1425_169+1426insTAA)
c.*124+1224_*124+1225insTAA (n.*124+1224_*124+1225insTAA)
c.*3349-10_*3349-9insTTA (n.*3349-10_*3349-9insTTA)
n.3140_3141insTAA
c.3096-10_3096-9insTTA (n.3096-10_3096-9insTTA)
c.903-10_903-9insTTA (n.903-10_903-9insTTA)
c.3819-10_3819-9insTTA (n.3819-10_3819-9insTTA)
c.4095-10_4095-9insTTA (n.4095-10_4095-9insTTA)
c.3912-10_3912-9insTTA (n.3912-10_3912-9insTTA)
c.3798-10_3798-9insTTA (n.3798-10_3798-9insTTA)
c.3189-10_3189-9insTTA (n.3189-10_3189-9insTTA)
ClinVar dbSNP gnomAD v3 gnomAD v4
2g.47806770A=CA2496054515FBXO11,MSH6c.3705-9A= (n.3705-9A=)
c.3618-9A= (n.3618-9A=)
n.4676-9A=
c.2436-9A= (n.2436-9A=)
c.4008-9A= (n.4008-9A=)
c.1457-9A= (n.1457-9A=)
c.2775-9A= (n.2775-9A=)
n.2971A=
n.2597-9A=
n.2264-9A=
n.2666-9A=
n.1411-9A=
n.3296-9A=
n.3978T=
n.4240T=
c.4002-9A= (n.4002-9A=)
c.3612-9A= (n.3612-9A=)
c.169+1425T= (n.169+1425T=)
c.*124+1224T= (n.*124+1224T=)
c.*3349-9A= (n.*3349-9A=)
n.3140T=
c.3096-9A= (n.3096-9A=)
c.903-9A= (n.903-9A=)
c.3819-9A= (n.3819-9A=)
c.4095-9A= (n.4095-9A=)
c.3912-9A= (n.3912-9A=)
c.3798-9A= (n.3798-9A=)
c.3189-9A= (n.3189-9A=)
2g.47806770A>CCA1030297735FBXO11,MSH6c.3705-9A>C (n.3705-9A>C)
c.3618-9A>C (n.3618-9A>C)
n.4676-9A>C
c.2436-9A>C (n.2436-9A>C)
c.4008-9A>C (n.4008-9A>C)
c.1457-9A>C (n.1457-9A>C)
c.2775-9A>C (n.2775-9A>C)
n.2971A>C
n.2597-9A>C
n.2264-9A>C
n.2666-9A>C
n.1411-9A>C
n.3296-9A>C
n.3978T>G
n.4240T>G
c.4002-9A>C (n.4002-9A>C)
c.3612-9A>C (n.3612-9A>C)
c.169+1425T>G (n.169+1425T>G)
c.*124+1224T>G (n.*124+1224T>G)
c.*3349-9A>C (n.*3349-9A>C)
n.3140T>G
c.3096-9A>C (n.3096-9A>C)
c.903-9A>C (n.903-9A>C)
c.3819-9A>C (n.3819-9A>C)
c.4095-9A>C (n.4095-9A>C)
c.3912-9A>C (n.3912-9A>C)
c.3798-9A>C (n.3798-9A>C)
c.3189-9A>C (n.3189-9A>C)
ClinVar dbSNP gnomAD v3 gnomAD v4
2g.47806770A>GCA1139656990FBXO11,MSH6c.3705-9A>G (n.3705-9A>G)
c.3618-9A>G (n.3618-9A>G)
n.4676-9A>G
c.2436-9A>G (n.2436-9A>G)
c.4008-9A>G (n.4008-9A>G)
c.1457-9A>G (n.1457-9A>G)
c.2775-9A>G (n.2775-9A>G)
n.2971A>G
n.2597-9A>G
n.2264-9A>G
n.2666-9A>G
n.1411-9A>G
n.3296-9A>G
n.3978T>C
n.4240T>C
c.4002-9A>G (n.4002-9A>G)
c.3612-9A>G (n.3612-9A>G)
c.169+1425T>C (n.169+1425T>C)
c.*124+1224T>C (n.*124+1224T>C)
c.*3349-9A>G (n.*3349-9A>G)
n.3140T>C
c.3096-9A>G (n.3096-9A>G)
c.903-9A>G (n.903-9A>G)
c.3819-9A>G (n.3819-9A>G)
c.4095-9A>G (n.4095-9A>G)
c.3912-9A>G (n.3912-9A>G)
c.3798-9A>G (n.3798-9A>G)
c.3189-9A>G (n.3189-9A>G)
ClinVar dbSNP
2g.47806770A>TCA072775FBXO11,MSH6c.3705-9A>T (n.3705-9A>T)
c.3618-9A>T (n.3618-9A>T)
n.4676-9A>T
c.2436-9A>T (n.2436-9A>T)
c.4008-9A>T (n.4008-9A>T)
c.1457-9A>T (n.1457-9A>T)
c.2775-9A>T (n.2775-9A>T)
n.2971A>T
n.2597-9A>T
n.2264-9A>T
n.2666-9A>T
n.1411-9A>T
n.3296-9A>T
n.3978T>A
n.4240T>A
c.4002-9A>T (n.4002-9A>T)
c.3612-9A>T (n.3612-9A>T)
c.169+1425T>A (n.169+1425T>A)
c.*124+1224T>A (n.*124+1224T>A)
c.*3349-9A>T (n.*3349-9A>T)
n.3140T>A
c.3096-9A>T (n.3096-9A>T)
c.903-9A>T (n.903-9A>T)
c.3819-9A>T (n.3819-9A>T)
c.4095-9A>T (n.4095-9A>T)
c.3912-9A>T (n.3912-9A>T)
c.3798-9A>T (n.3798-9A>T)
c.3189-9A>T (n.3189-9A>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.47806770_47806771delCA1649509FBXO11,MSH6c.3705-9_3705-8del (n.3705-9_3705-8del)
c.3618-9_3618-8del (n.3618-9_3618-8del)
n.4676-9_4676-8del
c.2436-9_2436-8del (n.2436-9_2436-8del)
c.4008-9_4008-8del (n.4008-9_4008-8del)
c.1457-9_1457-8del (n.1457-9_1457-8del)
c.2775-9_2775-8del (n.2775-9_2775-8del)
n.2971_2972del
n.2597-9_2597-8del
n.2264-9_2264-8del
n.2666-9_2666-8del
n.1411-9_1411-8del
n.3296-9_3296-8del
n.3977_3978del
n.4239_4240del
c.4002-9_4002-8del (n.4002-9_4002-8del)
c.3612-9_3612-8del (n.3612-9_3612-8del)
c.169+1424_169+1425del (n.169+1424_169+1425del)
c.*124+1223_*124+1224del (n.*124+1223_*124+1224del)
c.*3349-9_*3349-8del (n.*3349-9_*3349-8del)
n.3139_3140del
c.3096-9_3096-8del (n.3096-9_3096-8del)
c.903-9_903-8del (n.903-9_903-8del)
c.3819-9_3819-8del (n.3819-9_3819-8del)
c.4095-9_4095-8del (n.4095-9_4095-8del)
c.3912-9_3912-8del (n.3912-9_3912-8del)
c.3798-9_3798-8del (n.3798-9_3798-8del)
c.3189-9_3189-8del (n.3189-9_3189-8del)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.47806771_47806772insGGGAACA891843286FBXO11,MSH6c.3705-8_3705-7insGGGAA (n.3705-8_3705-7insGGGAA)
c.3618-8_3618-7insGGGAA (n.3618-8_3618-7insGGGAA)
n.4676-8_4676-7insGGGAA
c.2436-8_2436-7insGGGAA (n.2436-8_2436-7insGGGAA)
c.4008-8_4008-7insGGGAA (n.4008-8_4008-7insGGGAA)
c.1457-8_1457-7insGGGAA (n.1457-8_1457-7insGGGAA)
c.2775-8_2775-7insGGGAA (n.2775-8_2775-7insGGGAA)
n.2972_2973insGGGAA
n.2597-8_2597-7insGGGAA
n.2264-8_2264-7insGGGAA
n.2666-8_2666-7insGGGAA
n.1411-8_1411-7insGGGAA
n.3296-8_3296-7insGGGAA
n.3978_3979insCCCTT
n.4240_4241insCCCTT
c.4002-8_4002-7insGGGAA (n.4002-8_4002-7insGGGAA)
c.3612-8_3612-7insGGGAA (n.3612-8_3612-7insGGGAA)
c.169+1425_169+1426insCCCTT (n.169+1425_169+1426insCCCTT)
c.*124+1224_*124+1225insCCCTT (n.*124+1224_*124+1225insCCCTT)
c.*3349-8_*3349-7insGGGAA (n.*3349-8_*3349-7insGGGAA)
n.3140_3141insCCCTT
c.3096-8_3096-7insGGGAA (n.3096-8_3096-7insGGGAA)
c.903-8_903-7insGGGAA (n.903-8_903-7insGGGAA)
c.3819-8_3819-7insGGGAA (n.3819-8_3819-7insGGGAA)
c.4095-8_4095-7insGGGAA (n.4095-8_4095-7insGGGAA)
c.3912-8_3912-7insGGGAA (n.3912-8_3912-7insGGGAA)
c.3798-8_3798-7insGGGAA (n.3798-8_3798-7insGGGAA)
c.3189-8_3189-7insGGGAA (n.3189-8_3189-7insGGGAA)
dbSNP
2g.47806771dupCA015287FBXO11,MSH6c.3705-8dup (n.3705-8dup)
c.3618-8dup (n.3618-8dup)
n.4676-8dup
c.2436-8dup (n.2436-8dup)
c.4008-8dup (n.4008-8dup)
c.1457-8dup (n.1457-8dup)
c.2775-8dup (n.2775-8dup)
n.2972dup
n.2597-8dup
n.2264-8dup
n.2666-8dup
n.1411-8dup
n.3296-8dup
n.3978dup
n.4240dup
c.4002-8dup (n.4002-8dup)
c.3612-8dup (n.3612-8dup)
c.169+1425dup (n.169+1425dup)
c.*124+1224dup (n.*124+1224dup)
c.*3349-8dup (n.*3349-8dup)
n.3140dup
c.3096-8dup (n.3096-8dup)
c.903-8dup (n.903-8dup)
c.3819-8dup (n.3819-8dup)
c.4095-8dup (n.4095-8dup)
c.3912-8dup (n.3912-8dup)
c.3798-8dup (n.3798-8dup)
c.3189-8dup (n.3189-8dup)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.47806770_47806771dupCA46720309FBXO11,MSH6c.3705-9_3705-8dup (n.3705-9_3705-8dup)
c.3618-9_3618-8dup (n.3618-9_3618-8dup)
n.4676-9_4676-8dup
c.2436-9_2436-8dup (n.2436-9_2436-8dup)
c.4008-9_4008-8dup (n.4008-9_4008-8dup)
c.1457-9_1457-8dup (n.1457-9_1457-8dup)
c.2775-9_2775-8dup (n.2775-9_2775-8dup)
n.2971_2972dup
n.2597-9_2597-8dup
n.2264-9_2264-8dup
n.2666-9_2666-8dup
n.1411-9_1411-8dup
n.3296-9_3296-8dup
n.3977_3978dup
n.4239_4240dup
c.4002-9_4002-8dup (n.4002-9_4002-8dup)
c.3612-9_3612-8dup (n.3612-9_3612-8dup)
c.169+1424_169+1425dup (n.169+1424_169+1425dup)
c.*124+1223_*124+1224dup (n.*124+1223_*124+1224dup)
c.*3349-9_*3349-8dup (n.*3349-9_*3349-8dup)
n.3139_3140dup
c.3096-9_3096-8dup (n.3096-9_3096-8dup)
c.903-9_903-8dup (n.903-9_903-8dup)
c.3819-9_3819-8dup (n.3819-9_3819-8dup)
c.4095-9_4095-8dup (n.4095-9_4095-8dup)
c.3912-9_3912-8dup (n.3912-9_3912-8dup)
c.3798-9_3798-8dup (n.3798-9_3798-8dup)
c.3189-9_3189-8dup (n.3189-9_3189-8dup)
2g.47806771delCA1649510FBXO11,MSH6c.3705-8del (n.3705-8del)
c.3618-8del (n.3618-8del)
n.4676-8del
c.2436-8del (n.2436-8del)
c.4008-8del (n.4008-8del)
c.1457-8del (n.1457-8del)
c.2775-8del (n.2775-8del)
n.2972del
n.2597-8del
n.2264-8del
n.2666-8del
n.1411-8del
n.3296-8del
n.3978del
n.4240del
c.4002-8del (n.4002-8del)
c.3612-8del (n.3612-8del)
c.169+1425del (n.169+1425del)
c.*124+1224del (n.*124+1224del)
c.*3349-8del (n.*3349-8del)
n.3140del
c.3096-8del (n.3096-8del)
c.903-8del (n.903-8del)
c.3819-8del (n.3819-8del)
c.4095-8del (n.4095-8del)
c.3912-8del (n.3912-8del)
c.3798-8del (n.3798-8del)
c.3189-8del (n.3189-8del)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.47806771A=CA2496054516FBXO11,MSH6c.3705-8A= (n.3705-8A=)
c.3618-8A= (n.3618-8A=)
n.4676-8A=
c.2436-8A= (n.2436-8A=)
c.4008-8A= (n.4008-8A=)
c.1457-8A= (n.1457-8A=)
c.2775-8A= (n.2775-8A=)
n.2972A=
n.2597-8A=
n.2264-8A=
n.2666-8A=
n.1411-8A=
n.3296-8A=
n.3977T=
n.4239T=
c.4002-8A= (n.4002-8A=)
c.3612-8A= (n.3612-8A=)
c.169+1424T= (n.169+1424T=)
c.*124+1223T= (n.*124+1223T=)
c.*3349-8A= (n.*3349-8A=)
n.3139T=
c.3096-8A= (n.3096-8A=)
c.903-8A= (n.903-8A=)
c.3819-8A= (n.3819-8A=)
c.4095-8A= (n.4095-8A=)
c.3912-8A= (n.3912-8A=)
c.3798-8A= (n.3798-8A=)
c.3189-8A= (n.3189-8A=)
2g.47806771A>CCA072767FBXO11,MSH6c.3705-8A>C (n.3705-8A>C)
c.3618-8A>C (n.3618-8A>C)
n.4676-8A>C
c.2436-8A>C (n.2436-8A>C)
c.4008-8A>C (n.4008-8A>C)
c.1457-8A>C (n.1457-8A>C)
c.2775-8A>C (n.2775-8A>C)
n.2972A>C
n.2597-8A>C
n.2264-8A>C
n.2666-8A>C
n.1411-8A>C
n.3296-8A>C
n.3977T>G
n.4239T>G
c.4002-8A>C (n.4002-8A>C)
c.3612-8A>C (n.3612-8A>C)
c.169+1424T>G (n.169+1424T>G)
c.*124+1223T>G (n.*124+1223T>G)
c.*3349-8A>C (n.*3349-8A>C)
n.3139T>G
c.3096-8A>C (n.3096-8A>C)
c.903-8A>C (n.903-8A>C)
c.3819-8A>C (n.3819-8A>C)
c.4095-8A>C (n.4095-8A>C)
c.3912-8A>C (n.3912-8A>C)
c.3798-8A>C (n.3798-8A>C)
c.3189-8A>C (n.3189-8A>C)
ClinVar dbSNP ExAC gnomAD v3 gnomAD v4
2g.47806771A>GCA2496054517FBXO11,MSH6c.3705-8A>G (n.3705-8A>G)
c.3618-8A>G (n.3618-8A>G)
n.4676-8A>G
c.2436-8A>G (n.2436-8A>G)
c.4008-8A>G (n.4008-8A>G)
c.1457-8A>G (n.1457-8A>G)
c.2775-8A>G (n.2775-8A>G)
n.2972A>G
n.2597-8A>G
n.2264-8A>G
n.2666-8A>G
n.1411-8A>G
n.3296-8A>G
n.3977T>C
n.4239T>C
c.4002-8A>G (n.4002-8A>G)
c.3612-8A>G (n.3612-8A>G)
c.169+1424T>C (n.169+1424T>C)
c.*124+1223T>C (n.*124+1223T>C)
c.*3349-8A>G (n.*3349-8A>G)
n.3139T>C
c.3096-8A>G (n.3096-8A>G)
c.903-8A>G (n.903-8A>G)
c.3819-8A>G (n.3819-8A>G)
c.4095-8A>G (n.4095-8A>G)
c.3912-8A>G (n.3912-8A>G)
c.3798-8A>G (n.3798-8A>G)
c.3189-8A>G (n.3189-8A>G)
ClinVar dbSNP
2g.47806771A>TCA072769FBXO11,MSH6c.3705-8A>T (n.3705-8A>T)
c.3618-8A>T (n.3618-8A>T)
n.4676-8A>T
c.2436-8A>T (n.2436-8A>T)
c.4008-8A>T (n.4008-8A>T)
c.1457-8A>T (n.1457-8A>T)
c.2775-8A>T (n.2775-8A>T)
n.2972A>T
n.2597-8A>T
n.2264-8A>T
n.2666-8A>T
n.1411-8A>T
n.3296-8A>T
n.3977T>A
n.4239T>A
c.4002-8A>T (n.4002-8A>T)
c.3612-8A>T (n.3612-8A>T)
c.169+1424T>A (n.169+1424T>A)
c.*124+1223T>A (n.*124+1223T>A)
c.*3349-8A>T (n.*3349-8A>T)
n.3139T>A
c.3096-8A>T (n.3096-8A>T)
c.903-8A>T (n.903-8A>T)
c.3819-8A>T (n.3819-8A>T)
c.4095-8A>T (n.4095-8A>T)
c.3912-8A>T (n.3912-8A>T)
c.3798-8A>T (n.3798-8A>T)
c.3189-8A>T (n.3189-8A>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.47806771_47806772insAACTTTTTTTTTTTTTTTTTTTACA2749812345FBXO11,MSH6c.3705-8_3705-7insAACTTTTTTTTTTTTTTTTTTTA (n.3705-8_3705-7insAACTTTTTTTTTTTTTTTTTTTA)
c.3618-8_3618-7insAACTTTTTTTTTTTTTTTTTTTA (n.3618-8_3618-7insAACTTTTTTTTTTTTTTTTTTTA)
n.4676-8_4676-7insAACTTTTTTTTTTTTTTTTTTTA
c.2436-8_2436-7insAACTTTTTTTTTTTTTTTTTTTA (n.2436-8_2436-7insAACTTTTTTTTTTTTTTTTTTTA)
c.4008-8_4008-7insAACTTTTTTTTTTTTTTTTTTTA (n.4008-8_4008-7insAACTTTTTTTTTTTTTTTTTTTA)
c.1457-8_1457-7insAACTTTTTTTTTTTTTTTTTTTA (n.1457-8_1457-7insAACTTTTTTTTTTTTTTTTTTTA)
c.2775-8_2775-7insAACTTTTTTTTTTTTTTTTTTTA (n.2775-8_2775-7insAACTTTTTTTTTTTTTTTTTTTA)
n.2972_2973insAACTTTTTTTTTTTTTTTTTTTA
n.2597-8_2597-7insAACTTTTTTTTTTTTTTTTTTTA
n.2264-8_2264-7insAACTTTTTTTTTTTTTTTTTTTA
n.2666-8_2666-7insAACTTTTTTTTTTTTTTTTTTTA
n.1411-8_1411-7insAACTTTTTTTTTTTTTTTTTTTA
n.3296-8_3296-7insAACTTTTTTTTTTTTTTTTTTTA
n.3977_3978insAAAAAAAAAAAAAAAAAAAGTTT
n.4239_4240insAAAAAAAAAAAAAAAAAAAGTTT
c.4002-8_4002-7insAACTTTTTTTTTTTTTTTTTTTA (n.4002-8_4002-7insAACTTTTTTTTTTTTTTTTTTTA)
c.3612-8_3612-7insAACTTTTTTTTTTTTTTTTTTTA (n.3612-8_3612-7insAACTTTTTTTTTTTTTTTTTTTA)
c.169+1424_169+1425insAAAAAAAAAAAAAAAAAAAGTTT (n.169+1424_169+1425insAAAAAAAAAAAAAAAAAAAGTTT)
c.*124+1223_*124+1224insAAAAAAAAAAAAAAAAAAAGTTT (n.*124+1223_*124+1224insAAAAAAAAAAAAAAAAAAAGTTT)
c.*3349-8_*3349-7insAACTTTTTTTTTTTTTTTTTTTA (n.*3349-8_*3349-7insAACTTTTTTTTTTTTTTTTTTTA)
n.3139_3140insAAAAAAAAAAAAAAAAAAAGTTT
c.3096-8_3096-7insAACTTTTTTTTTTTTTTTTTTTA (n.3096-8_3096-7insAACTTTTTTTTTTTTTTTTTTTA)
c.903-8_903-7insAACTTTTTTTTTTTTTTTTTTTA (n.903-8_903-7insAACTTTTTTTTTTTTTTTTTTTA)
c.3819-8_3819-7insAACTTTTTTTTTTTTTTTTTTTA (n.3819-8_3819-7insAACTTTTTTTTTTTTTTTTTTTA)
c.4095-8_4095-7insAACTTTTTTTTTTTTTTTTTTTA (n.4095-8_4095-7insAACTTTTTTTTTTTTTTTTTTTA)
c.3912-8_3912-7insAACTTTTTTTTTTTTTTTTTTTA (n.3912-8_3912-7insAACTTTTTTTTTTTTTTTTTTTA)
c.3798-8_3798-7insAACTTTTTTTTTTTTTTTTTTTA (n.3798-8_3798-7insAACTTTTTTTTTTTTTTTTTTTA)
c.3189-8_3189-7insAACTTTTTTTTTTTTTTTTTTTA (n.3189-8_3189-7insAACTTTTTTTTTTTTTTTTTTTA)
2g.47806771_47806773dupCA1649511FBXO11,MSH6c.3705-8_3705-6dup (n.3705-8_3705-6dup)
c.3618-8_3618-6dup (n.3618-8_3618-6dup)
n.4676-8_4676-6dup
c.2436-8_2436-6dup (n.2436-8_2436-6dup)
c.4008-8_4008-6dup (n.4008-8_4008-6dup)
c.1457-8_1457-6dup (n.1457-8_1457-6dup)
c.2775-8_2775-6dup (n.2775-8_2775-6dup)
n.2972_2974dup
n.2597-8_2597-6dup
n.2264-8_2264-6dup
n.2666-8_2666-6dup
n.1411-8_1411-6dup
n.3296-8_3296-6dup
n.3975_3977dup
n.4237_4239dup
c.4002-8_4002-6dup (n.4002-8_4002-6dup)
c.3612-8_3612-6dup (n.3612-8_3612-6dup)
c.169+1422_169+1424dup (n.169+1422_169+1424dup)
c.*124+1221_*124+1223dup (n.*124+1221_*124+1223dup)
c.*3349-8_*3349-6dup (n.*3349-8_*3349-6dup)
n.3137_3139dup
c.3096-8_3096-6dup (n.3096-8_3096-6dup)
c.903-8_903-6dup (n.903-8_903-6dup)
c.3819-8_3819-6dup (n.3819-8_3819-6dup)
c.4095-8_4095-6dup (n.4095-8_4095-6dup)
c.3912-8_3912-6dup (n.3912-8_3912-6dup)
c.3798-8_3798-6dup (n.3798-8_3798-6dup)
c.3189-8_3189-6dup (n.3189-8_3189-6dup)
dbSNP ExAC
2g.47806771_47806774dupCA1649512FBXO11,MSH6c.3705-8_3705-5dup (n.3705-8_3705-5dup)
c.3618-8_3618-5dup (n.3618-8_3618-5dup)
n.4676-8_4676-5dup
c.2436-8_2436-5dup (n.2436-8_2436-5dup)
c.4008-8_4008-5dup (n.4008-8_4008-5dup)
c.1457-8_1457-5dup (n.1457-8_1457-5dup)
c.2775-8_2775-5dup (n.2775-8_2775-5dup)
n.2972_2975dup
n.2597-8_2597-5dup
n.2264-8_2264-5dup
n.2666-8_2666-5dup
n.1411-8_1411-5dup
n.3296-8_3296-5dup
n.3974_3977dup
n.4236_4239dup
c.4002-8_4002-5dup (n.4002-8_4002-5dup)
c.3612-8_3612-5dup (n.3612-8_3612-5dup)
c.169+1421_169+1424dup (n.169+1421_169+1424dup)
c.*124+1220_*124+1223dup (n.*124+1220_*124+1223dup)
c.*3349-8_*3349-5dup (n.*3349-8_*3349-5dup)
n.3136_3139dup
c.3096-8_3096-5dup (n.3096-8_3096-5dup)
c.903-8_903-5dup (n.903-8_903-5dup)
c.3819-8_3819-5dup (n.3819-8_3819-5dup)
c.4095-8_4095-5dup (n.4095-8_4095-5dup)
c.3912-8_3912-5dup (n.3912-8_3912-5dup)
c.3798-8_3798-5dup (n.3798-8_3798-5dup)
c.3189-8_3189-5dup (n.3189-8_3189-5dup)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.47806772_47806776delCA2580067584FBXO11,MSH6c.3705-7_3705-3del (n.3705-7_3705-3del)
c.3618-7_3618-3del (n.3618-7_3618-3del)
n.4676-7_4676-3del
c.2436-7_2436-3del (n.2436-7_2436-3del)
c.4008-7_4008-3del (n.4008-7_4008-3del)
c.1457-7_1457-3del (n.1457-7_1457-3del)
c.2775-7_2775-3del (n.2775-7_2775-3del)
n.2973_2977del
n.2597-7_2597-3del
n.2264-7_2264-3del
n.2666-7_2666-3del
n.1411-7_1411-3del
n.3296-7_3296-3del
n.3973_3977del
n.4235_4239del
c.4002-7_4002-3del (n.4002-7_4002-3del)
c.3612-7_3612-3del (n.3612-7_3612-3del)
c.169+1420_169+1424del (n.169+1420_169+1424del)
c.*124+1219_*124+1223del (n.*124+1219_*124+1223del)
c.*3349-7_*3349-3del (n.*3349-7_*3349-3del)
n.3135_3139del
c.3096-7_3096-3del (n.3096-7_3096-3del)
c.903-7_903-3del (n.903-7_903-3del)
c.3819-7_3819-3del (n.3819-7_3819-3del)
c.4095-7_4095-3del (n.4095-7_4095-3del)
c.3912-7_3912-3del (n.3912-7_3912-3del)
c.3798-7_3798-3del (n.3798-7_3798-3del)
c.3189-7_3189-3del (n.3189-7_3189-3del)
ClinVar
2g.47806772_47806806dupCA2580067583FBXO11,MSH6c.3705-7_3732dup
c.3618-7_3645dup
n.4676-7_4703dup
c.2436-7_2463dup
c.4008-7_4035dup
c.1457-7_1484dup
c.2775-7_2802dup
n.2973_3007dup
n.2597-7_2624dup
n.2264-7_2291dup
n.2666-7_2693dup
n.1411-7_1438dup
n.3296-7_3323dup
n.3943_3977dup
n.4205_4239dup
c.4002-7_4029dup
c.3612-7_3639dup
c.169+1390_169+1424dup (n.169+1390_169+1424dup)
c.*124+1189_*124+1223dup (n.*124+1189_*124+1223dup)
c.*3349-7_*3376dup
n.3105_3139dup
c.3096-7_3123dup
c.903-7_930dup
c.3819-7_3846dup
c.4095-7_4122dup
c.3912-7_3939dup
c.3798-7_3825dup
c.3189-7_3216dup
ClinVar
2g.47806771_47806772insACCA2658970221FBXO11,MSH6c.3705-8_3705-7insAC (n.3705-8_3705-7insAC)
c.3618-8_3618-7insAC (n.3618-8_3618-7insAC)
n.4676-8_4676-7insAC
c.2436-8_2436-7insAC (n.2436-8_2436-7insAC)
c.4008-8_4008-7insAC (n.4008-8_4008-7insAC)
c.1457-8_1457-7insAC (n.1457-8_1457-7insAC)
c.2775-8_2775-7insAC (n.2775-8_2775-7insAC)
n.2972_2973insAC
n.2597-8_2597-7insAC
n.2264-8_2264-7insAC
n.2666-8_2666-7insAC
n.1411-8_1411-7insAC
n.3296-8_3296-7insAC
n.3976_3977insGT
n.4238_4239insGT
c.4002-8_4002-7insAC (n.4002-8_4002-7insAC)
c.3612-8_3612-7insAC (n.3612-8_3612-7insAC)
c.169+1423_169+1424insGT (n.169+1423_169+1424insGT)
c.*124+1222_*124+1223insGT (n.*124+1222_*124+1223insGT)
c.*3349-8_*3349-7insAC (n.*3349-8_*3349-7insAC)
n.3138_3139insGT
c.3096-8_3096-7insAC (n.3096-8_3096-7insAC)
c.903-8_903-7insAC (n.903-8_903-7insAC)
c.3819-8_3819-7insAC (n.3819-8_3819-7insAC)
c.4095-8_4095-7insAC (n.4095-8_4095-7insAC)
c.3912-8_3912-7insAC (n.3912-8_3912-7insAC)
c.3798-8_3798-7insAC (n.3798-8_3798-7insAC)
c.3189-8_3189-7insAC (n.3189-8_3189-7insAC)
gnomAD v4
2g.47806771_47806772insAACCA2519725600FBXO11,MSH6c.3705-8_3705-7insAAC (n.3705-8_3705-7insAAC)
c.3618-8_3618-7insAAC (n.3618-8_3618-7insAAC)
n.4676-8_4676-7insAAC
c.2436-8_2436-7insAAC (n.2436-8_2436-7insAAC)
c.4008-8_4008-7insAAC (n.4008-8_4008-7insAAC)
c.1457-8_1457-7insAAC (n.1457-8_1457-7insAAC)
c.2775-8_2775-7insAAC (n.2775-8_2775-7insAAC)
n.2972_2973insAAC
n.2597-8_2597-7insAAC
n.2264-8_2264-7insAAC
n.2666-8_2666-7insAAC
n.1411-8_1411-7insAAC
n.3296-8_3296-7insAAC
n.3976_3977insGTT
n.4238_4239insGTT
c.4002-8_4002-7insAAC (n.4002-8_4002-7insAAC)
c.3612-8_3612-7insAAC (n.3612-8_3612-7insAAC)
c.169+1423_169+1424insGTT (n.169+1423_169+1424insGTT)
c.*124+1222_*124+1223insGTT (n.*124+1222_*124+1223insGTT)
c.*3349-8_*3349-7insAAC (n.*3349-8_*3349-7insAAC)
n.3138_3139insGTT
c.3096-8_3096-7insAAC (n.3096-8_3096-7insAAC)
c.903-8_903-7insAAC (n.903-8_903-7insAAC)
c.3819-8_3819-7insAAC (n.3819-8_3819-7insAAC)
c.4095-8_4095-7insAAC (n.4095-8_4095-7insAAC)
c.3912-8_3912-7insAAC (n.3912-8_3912-7insAAC)
c.3798-8_3798-7insAAC (n.3798-8_3798-7insAAC)
c.3189-8_3189-7insAAC (n.3189-8_3189-7insAAC)
gnomAD v4
2g.47806771_47806772insAACTCA2658970229FBXO11,MSH6c.3705-8_3705-7insAACT (n.3705-8_3705-7insAACT)
c.3618-8_3618-7insAACT (n.3618-8_3618-7insAACT)
n.4676-8_4676-7insAACT
c.2436-8_2436-7insAACT (n.2436-8_2436-7insAACT)
c.4008-8_4008-7insAACT (n.4008-8_4008-7insAACT)
c.1457-8_1457-7insAACT (n.1457-8_1457-7insAACT)
c.2775-8_2775-7insAACT (n.2775-8_2775-7insAACT)
n.2972_2973insAACT
n.2597-8_2597-7insAACT
n.2264-8_2264-7insAACT
n.2666-8_2666-7insAACT
n.1411-8_1411-7insAACT
n.3296-8_3296-7insAACT
n.3976_3977insAGTT
n.4238_4239insAGTT
c.4002-8_4002-7insAACT (n.4002-8_4002-7insAACT)
c.3612-8_3612-7insAACT (n.3612-8_3612-7insAACT)
c.169+1423_169+1424insAGTT (n.169+1423_169+1424insAGTT)
c.*124+1222_*124+1223insAGTT (n.*124+1222_*124+1223insAGTT)
c.*3349-8_*3349-7insAACT (n.*3349-8_*3349-7insAACT)
n.3138_3139insAGTT
c.3096-8_3096-7insAACT (n.3096-8_3096-7insAACT)
c.903-8_903-7insAACT (n.903-8_903-7insAACT)
c.3819-8_3819-7insAACT (n.3819-8_3819-7insAACT)
c.4095-8_4095-7insAACT (n.4095-8_4095-7insAACT)
c.3912-8_3912-7insAACT (n.3912-8_3912-7insAACT)
c.3798-8_3798-7insAACT (n.3798-8_3798-7insAACT)
c.3189-8_3189-7insAACT (n.3189-8_3189-7insAACT)
gnomAD v4
2g.47806771_47806772insAACTTCA2658970230FBXO11,MSH6c.3705-8_3705-7insAACTT (n.3705-8_3705-7insAACTT)
c.3618-8_3618-7insAACTT (n.3618-8_3618-7insAACTT)
n.4676-8_4676-7insAACTT
c.2436-8_2436-7insAACTT (n.2436-8_2436-7insAACTT)
c.4008-8_4008-7insAACTT (n.4008-8_4008-7insAACTT)
c.1457-8_1457-7insAACTT (n.1457-8_1457-7insAACTT)
c.2775-8_2775-7insAACTT (n.2775-8_2775-7insAACTT)
n.2972_2973insAACTT
n.2597-8_2597-7insAACTT
n.2264-8_2264-7insAACTT
n.2666-8_2666-7insAACTT
n.1411-8_1411-7insAACTT
n.3296-8_3296-7insAACTT
n.3976_3977insAAGTT
n.4238_4239insAAGTT
c.4002-8_4002-7insAACTT (n.4002-8_4002-7insAACTT)
c.3612-8_3612-7insAACTT (n.3612-8_3612-7insAACTT)
c.169+1423_169+1424insAAGTT (n.169+1423_169+1424insAAGTT)
c.*124+1222_*124+1223insAAGTT (n.*124+1222_*124+1223insAAGTT)
c.*3349-8_*3349-7insAACTT (n.*3349-8_*3349-7insAACTT)
n.3138_3139insAAGTT
c.3096-8_3096-7insAACTT (n.3096-8_3096-7insAACTT)
c.903-8_903-7insAACTT (n.903-8_903-7insAACTT)
c.3819-8_3819-7insAACTT (n.3819-8_3819-7insAACTT)
c.4095-8_4095-7insAACTT (n.4095-8_4095-7insAACTT)
c.3912-8_3912-7insAACTT (n.3912-8_3912-7insAACTT)
c.3798-8_3798-7insAACTT (n.3798-8_3798-7insAACTT)
c.3189-8_3189-7insAACTT (n.3189-8_3189-7insAACTT)
gnomAD v4
2g.47806771_47806772insAACTTTCA2658970231FBXO11,MSH6c.3705-8_3705-7insAACTTT (n.3705-8_3705-7insAACTTT)
c.3618-8_3618-7insAACTTT (n.3618-8_3618-7insAACTTT)
n.4676-8_4676-7insAACTTT
c.2436-8_2436-7insAACTTT (n.2436-8_2436-7insAACTTT)
c.4008-8_4008-7insAACTTT (n.4008-8_4008-7insAACTTT)
c.1457-8_1457-7insAACTTT (n.1457-8_1457-7insAACTTT)
c.2775-8_2775-7insAACTTT (n.2775-8_2775-7insAACTTT)
n.2972_2973insAACTTT
n.2597-8_2597-7insAACTTT
n.2264-8_2264-7insAACTTT
n.2666-8_2666-7insAACTTT
n.1411-8_1411-7insAACTTT
n.3296-8_3296-7insAACTTT
n.3976_3977insAAAGTT
n.4238_4239insAAAGTT
c.4002-8_4002-7insAACTTT (n.4002-8_4002-7insAACTTT)
c.3612-8_3612-7insAACTTT (n.3612-8_3612-7insAACTTT)
c.169+1423_169+1424insAAAGTT (n.169+1423_169+1424insAAAGTT)
c.*124+1222_*124+1223insAAAGTT (n.*124+1222_*124+1223insAAAGTT)
c.*3349-8_*3349-7insAACTTT (n.*3349-8_*3349-7insAACTTT)
n.3138_3139insAAAGTT
c.3096-8_3096-7insAACTTT (n.3096-8_3096-7insAACTTT)
c.903-8_903-7insAACTTT (n.903-8_903-7insAACTTT)
c.3819-8_3819-7insAACTTT (n.3819-8_3819-7insAACTTT)
c.4095-8_4095-7insAACTTT (n.4095-8_4095-7insAACTTT)
c.3912-8_3912-7insAACTTT (n.3912-8_3912-7insAACTTT)
c.3798-8_3798-7insAACTTT (n.3798-8_3798-7insAACTTT)
c.3189-8_3189-7insAACTTT (n.3189-8_3189-7insAACTTT)
gnomAD v4
2g.47806771_47806772insAACTTTTCA2658970232FBXO11,MSH6c.3705-8_3705-7insAACTTTT (n.3705-8_3705-7insAACTTTT)
c.3618-8_3618-7insAACTTTT (n.3618-8_3618-7insAACTTTT)
n.4676-8_4676-7insAACTTTT
c.2436-8_2436-7insAACTTTT (n.2436-8_2436-7insAACTTTT)
c.4008-8_4008-7insAACTTTT (n.4008-8_4008-7insAACTTTT)
c.1457-8_1457-7insAACTTTT (n.1457-8_1457-7insAACTTTT)
c.2775-8_2775-7insAACTTTT (n.2775-8_2775-7insAACTTTT)
n.2972_2973insAACTTTT
n.2597-8_2597-7insAACTTTT
n.2264-8_2264-7insAACTTTT
n.2666-8_2666-7insAACTTTT
n.1411-8_1411-7insAACTTTT
n.3296-8_3296-7insAACTTTT
n.3976_3977insAAAAGTT
n.4238_4239insAAAAGTT
c.4002-8_4002-7insAACTTTT (n.4002-8_4002-7insAACTTTT)
c.3612-8_3612-7insAACTTTT (n.3612-8_3612-7insAACTTTT)
c.169+1423_169+1424insAAAAGTT (n.169+1423_169+1424insAAAAGTT)
c.*124+1222_*124+1223insAAAAGTT (n.*124+1222_*124+1223insAAAAGTT)
c.*3349-8_*3349-7insAACTTTT (n.*3349-8_*3349-7insAACTTTT)
n.3138_3139insAAAAGTT
c.3096-8_3096-7insAACTTTT (n.3096-8_3096-7insAACTTTT)
c.903-8_903-7insAACTTTT (n.903-8_903-7insAACTTTT)
c.3819-8_3819-7insAACTTTT (n.3819-8_3819-7insAACTTTT)
c.4095-8_4095-7insAACTTTT (n.4095-8_4095-7insAACTTTT)
c.3912-8_3912-7insAACTTTT (n.3912-8_3912-7insAACTTTT)
c.3798-8_3798-7insAACTTTT (n.3798-8_3798-7insAACTTTT)
c.3189-8_3189-7insAACTTTT (n.3189-8_3189-7insAACTTTT)
gnomAD v4
2g.47806771_47806772insAACTTTTTCA2658970233FBXO11,MSH6c.3705-8_3705-7insAACTTTTT (n.3705-8_3705-7insAACTTTTT)
c.3618-8_3618-7insAACTTTTT (n.3618-8_3618-7insAACTTTTT)
n.4676-8_4676-7insAACTTTTT
c.2436-8_2436-7insAACTTTTT (n.2436-8_2436-7insAACTTTTT)
c.4008-8_4008-7insAACTTTTT (n.4008-8_4008-7insAACTTTTT)
c.1457-8_1457-7insAACTTTTT (n.1457-8_1457-7insAACTTTTT)
c.2775-8_2775-7insAACTTTTT (n.2775-8_2775-7insAACTTTTT)
n.2972_2973insAACTTTTT
n.2597-8_2597-7insAACTTTTT
n.2264-8_2264-7insAACTTTTT
n.2666-8_2666-7insAACTTTTT
n.1411-8_1411-7insAACTTTTT
n.3296-8_3296-7insAACTTTTT
n.3976_3977insAAAAAGTT
n.4238_4239insAAAAAGTT
c.4002-8_4002-7insAACTTTTT (n.4002-8_4002-7insAACTTTTT)
c.3612-8_3612-7insAACTTTTT (n.3612-8_3612-7insAACTTTTT)
c.169+1423_169+1424insAAAAAGTT (n.169+1423_169+1424insAAAAAGTT)
c.*124+1222_*124+1223insAAAAAGTT (n.*124+1222_*124+1223insAAAAAGTT)
c.*3349-8_*3349-7insAACTTTTT (n.*3349-8_*3349-7insAACTTTTT)
n.3138_3139insAAAAAGTT
c.3096-8_3096-7insAACTTTTT (n.3096-8_3096-7insAACTTTTT)
c.903-8_903-7insAACTTTTT (n.903-8_903-7insAACTTTTT)
c.3819-8_3819-7insAACTTTTT (n.3819-8_3819-7insAACTTTTT)
c.4095-8_4095-7insAACTTTTT (n.4095-8_4095-7insAACTTTTT)
c.3912-8_3912-7insAACTTTTT (n.3912-8_3912-7insAACTTTTT)
c.3798-8_3798-7insAACTTTTT (n.3798-8_3798-7insAACTTTTT)
c.3189-8_3189-7insAACTTTTT (n.3189-8_3189-7insAACTTTTT)
gnomAD v4
2g.47806771_47806772insAACTTTTTTCA2658970234FBXO11,MSH6c.3705-8_3705-7insAACTTTTTT (n.3705-8_3705-7insAACTTTTTT)
c.3618-8_3618-7insAACTTTTTT (n.3618-8_3618-7insAACTTTTTT)
n.4676-8_4676-7insAACTTTTTT
c.2436-8_2436-7insAACTTTTTT (n.2436-8_2436-7insAACTTTTTT)
c.4008-8_4008-7insAACTTTTTT (n.4008-8_4008-7insAACTTTTTT)
c.1457-8_1457-7insAACTTTTTT (n.1457-8_1457-7insAACTTTTTT)
c.2775-8_2775-7insAACTTTTTT (n.2775-8_2775-7insAACTTTTTT)
n.2972_2973insAACTTTTTT
n.2597-8_2597-7insAACTTTTTT
n.2264-8_2264-7insAACTTTTTT
n.2666-8_2666-7insAACTTTTTT
n.1411-8_1411-7insAACTTTTTT
n.3296-8_3296-7insAACTTTTTT
n.3976_3977insAAAAAAGTT
n.4238_4239insAAAAAAGTT
c.4002-8_4002-7insAACTTTTTT (n.4002-8_4002-7insAACTTTTTT)
c.3612-8_3612-7insAACTTTTTT (n.3612-8_3612-7insAACTTTTTT)
c.169+1423_169+1424insAAAAAAGTT (n.169+1423_169+1424insAAAAAAGTT)
c.*124+1222_*124+1223insAAAAAAGTT (n.*124+1222_*124+1223insAAAAAAGTT)
c.*3349-8_*3349-7insAACTTTTTT (n.*3349-8_*3349-7insAACTTTTTT)
n.3138_3139insAAAAAAGTT
c.3096-8_3096-7insAACTTTTTT (n.3096-8_3096-7insAACTTTTTT)
c.903-8_903-7insAACTTTTTT (n.903-8_903-7insAACTTTTTT)
c.3819-8_3819-7insAACTTTTTT (n.3819-8_3819-7insAACTTTTTT)
c.4095-8_4095-7insAACTTTTTT (n.4095-8_4095-7insAACTTTTTT)
c.3912-8_3912-7insAACTTTTTT (n.3912-8_3912-7insAACTTTTTT)
c.3798-8_3798-7insAACTTTTTT (n.3798-8_3798-7insAACTTTTTT)
c.3189-8_3189-7insAACTTTTTT (n.3189-8_3189-7insAACTTTTTT)
gnomAD v4
2g.47806771_47806772insAACTTTTTTTCA2658970237FBXO11,MSH6c.3705-8_3705-7insAACTTTTTTT (n.3705-8_3705-7insAACTTTTTTT)
c.3618-8_3618-7insAACTTTTTTT (n.3618-8_3618-7insAACTTTTTTT)
n.4676-8_4676-7insAACTTTTTTT
c.2436-8_2436-7insAACTTTTTTT (n.2436-8_2436-7insAACTTTTTTT)
c.4008-8_4008-7insAACTTTTTTT (n.4008-8_4008-7insAACTTTTTTT)
c.1457-8_1457-7insAACTTTTTTT (n.1457-8_1457-7insAACTTTTTTT)
c.2775-8_2775-7insAACTTTTTTT (n.2775-8_2775-7insAACTTTTTTT)
n.2972_2973insAACTTTTTTT
n.2597-8_2597-7insAACTTTTTTT
n.2264-8_2264-7insAACTTTTTTT
n.2666-8_2666-7insAACTTTTTTT
n.1411-8_1411-7insAACTTTTTTT
n.3296-8_3296-7insAACTTTTTTT
n.3976_3977insAAAAAAAGTT
n.4238_4239insAAAAAAAGTT
c.4002-8_4002-7insAACTTTTTTT (n.4002-8_4002-7insAACTTTTTTT)
c.3612-8_3612-7insAACTTTTTTT (n.3612-8_3612-7insAACTTTTTTT)
c.169+1423_169+1424insAAAAAAAGTT (n.169+1423_169+1424insAAAAAAAGTT)
c.*124+1222_*124+1223insAAAAAAAGTT (n.*124+1222_*124+1223insAAAAAAAGTT)
c.*3349-8_*3349-7insAACTTTTTTT (n.*3349-8_*3349-7insAACTTTTTTT)
n.3138_3139insAAAAAAAGTT
c.3096-8_3096-7insAACTTTTTTT (n.3096-8_3096-7insAACTTTTTTT)
c.903-8_903-7insAACTTTTTTT (n.903-8_903-7insAACTTTTTTT)
c.3819-8_3819-7insAACTTTTTTT (n.3819-8_3819-7insAACTTTTTTT)
c.4095-8_4095-7insAACTTTTTTT (n.4095-8_4095-7insAACTTTTTTT)
c.3912-8_3912-7insAACTTTTTTT (n.3912-8_3912-7insAACTTTTTTT)
c.3798-8_3798-7insAACTTTTTTT (n.3798-8_3798-7insAACTTTTTTT)
c.3189-8_3189-7insAACTTTTTTT (n.3189-8_3189-7insAACTTTTTTT)
gnomAD v4
2g.47806771_47806772insAACTTTTTTTTCA2658970239FBXO11,MSH6c.3705-8_3705-7insAACTTTTTTTT (n.3705-8_3705-7insAACTTTTTTTT)
c.3618-8_3618-7insAACTTTTTTTT (n.3618-8_3618-7insAACTTTTTTTT)
n.4676-8_4676-7insAACTTTTTTTT
c.2436-8_2436-7insAACTTTTTTTT (n.2436-8_2436-7insAACTTTTTTTT)
c.4008-8_4008-7insAACTTTTTTTT (n.4008-8_4008-7insAACTTTTTTTT)
c.1457-8_1457-7insAACTTTTTTTT (n.1457-8_1457-7insAACTTTTTTTT)
c.2775-8_2775-7insAACTTTTTTTT (n.2775-8_2775-7insAACTTTTTTTT)
n.2972_2973insAACTTTTTTTT
n.2597-8_2597-7insAACTTTTTTTT
n.2264-8_2264-7insAACTTTTTTTT
n.2666-8_2666-7insAACTTTTTTTT
n.1411-8_1411-7insAACTTTTTTTT
n.3296-8_3296-7insAACTTTTTTTT
n.3976_3977insAAAAAAAAGTT
n.4238_4239insAAAAAAAAGTT
c.4002-8_4002-7insAACTTTTTTTT (n.4002-8_4002-7insAACTTTTTTTT)
c.3612-8_3612-7insAACTTTTTTTT (n.3612-8_3612-7insAACTTTTTTTT)
c.169+1423_169+1424insAAAAAAAAGTT (n.169+1423_169+1424insAAAAAAAAGTT)
c.*124+1222_*124+1223insAAAAAAAAGTT (n.*124+1222_*124+1223insAAAAAAAAGTT)
c.*3349-8_*3349-7insAACTTTTTTTT (n.*3349-8_*3349-7insAACTTTTTTTT)
n.3138_3139insAAAAAAAAGTT
c.3096-8_3096-7insAACTTTTTTTT (n.3096-8_3096-7insAACTTTTTTTT)
c.903-8_903-7insAACTTTTTTTT (n.903-8_903-7insAACTTTTTTTT)
c.3819-8_3819-7insAACTTTTTTTT (n.3819-8_3819-7insAACTTTTTTTT)
c.4095-8_4095-7insAACTTTTTTTT (n.4095-8_4095-7insAACTTTTTTTT)
c.3912-8_3912-7insAACTTTTTTTT (n.3912-8_3912-7insAACTTTTTTTT)
c.3798-8_3798-7insAACTTTTTTTT (n.3798-8_3798-7insAACTTTTTTTT)
c.3189-8_3189-7insAACTTTTTTTT (n.3189-8_3189-7insAACTTTTTTTT)
gnomAD v4
2g.47806771_47806772insAATTTTTTTTTCA2749812352FBXO11,MSH6c.3705-8_3705-7insAATTTTTTTTT (n.3705-8_3705-7insAATTTTTTTTT)
c.3618-8_3618-7insAATTTTTTTTT (n.3618-8_3618-7insAATTTTTTTTT)
n.4676-8_4676-7insAATTTTTTTTT
c.2436-8_2436-7insAATTTTTTTTT (n.2436-8_2436-7insAATTTTTTTTT)
c.4008-8_4008-7insAATTTTTTTTT (n.4008-8_4008-7insAATTTTTTTTT)
c.1457-8_1457-7insAATTTTTTTTT (n.1457-8_1457-7insAATTTTTTTTT)
c.2775-8_2775-7insAATTTTTTTTT (n.2775-8_2775-7insAATTTTTTTTT)
n.2972_2973insAATTTTTTTTT
n.2597-8_2597-7insAATTTTTTTTT
n.2264-8_2264-7insAATTTTTTTTT
n.2666-8_2666-7insAATTTTTTTTT
n.1411-8_1411-7insAATTTTTTTTT
n.3296-8_3296-7insAATTTTTTTTT
n.3976_3977insAAAAAAAAATT
n.4238_4239insAAAAAAAAATT
c.4002-8_4002-7insAATTTTTTTTT (n.4002-8_4002-7insAATTTTTTTTT)
c.3612-8_3612-7insAATTTTTTTTT (n.3612-8_3612-7insAATTTTTTTTT)
c.169+1423_169+1424insAAAAAAAAATT (n.169+1423_169+1424insAAAAAAAAATT)
c.*124+1222_*124+1223insAAAAAAAAATT (n.*124+1222_*124+1223insAAAAAAAAATT)
c.*3349-8_*3349-7insAATTTTTTTTT (n.*3349-8_*3349-7insAATTTTTTTTT)
n.3138_3139insAAAAAAAAATT
c.3096-8_3096-7insAATTTTTTTTT (n.3096-8_3096-7insAATTTTTTTTT)
c.903-8_903-7insAATTTTTTTTT (n.903-8_903-7insAATTTTTTTTT)
c.3819-8_3819-7insAATTTTTTTTT (n.3819-8_3819-7insAATTTTTTTTT)
c.4095-8_4095-7insAATTTTTTTTT (n.4095-8_4095-7insAATTTTTTTTT)
c.3912-8_3912-7insAATTTTTTTTT (n.3912-8_3912-7insAATTTTTTTTT)
c.3798-8_3798-7insAATTTTTTTTT (n.3798-8_3798-7insAATTTTTTTTT)
c.3189-8_3189-7insAATTTTTTTTT (n.3189-8_3189-7insAATTTTTTTTT)
2g.47806771_47806772insAACTTTTTTTTTCA915943989FBXO11,MSH6c.3705-8_3705-7insAACTTTTTTTTT (n.3705-8_3705-7insAACTTTTTTTTT)
c.3618-8_3618-7insAACTTTTTTTTT (n.3618-8_3618-7insAACTTTTTTTTT)
n.4676-8_4676-7insAACTTTTTTTTT
c.2436-8_2436-7insAACTTTTTTTTT (n.2436-8_2436-7insAACTTTTTTTTT)
c.4008-8_4008-7insAACTTTTTTTTT (n.4008-8_4008-7insAACTTTTTTTTT)
c.1457-8_1457-7insAACTTTTTTTTT (n.1457-8_1457-7insAACTTTTTTTTT)
c.2775-8_2775-7insAACTTTTTTTTT (n.2775-8_2775-7insAACTTTTTTTTT)
n.2972_2973insAACTTTTTTTTT
n.2597-8_2597-7insAACTTTTTTTTT
n.2264-8_2264-7insAACTTTTTTTTT
n.2666-8_2666-7insAACTTTTTTTTT
n.1411-8_1411-7insAACTTTTTTTTT
n.3296-8_3296-7insAACTTTTTTTTT
n.3976_3977insAAAAAAAAAGTT
n.4238_4239insAAAAAAAAAGTT
c.4002-8_4002-7insAACTTTTTTTTT (n.4002-8_4002-7insAACTTTTTTTTT)
c.3612-8_3612-7insAACTTTTTTTTT (n.3612-8_3612-7insAACTTTTTTTTT)
c.169+1423_169+1424insAAAAAAAAAGTT (n.169+1423_169+1424insAAAAAAAAAGTT)
c.*124+1222_*124+1223insAAAAAAAAAGTT (n.*124+1222_*124+1223insAAAAAAAAAGTT)
c.*3349-8_*3349-7insAACTTTTTTTTT (n.*3349-8_*3349-7insAACTTTTTTTTT)
n.3138_3139insAAAAAAAAAGTT
c.3096-8_3096-7insAACTTTTTTTTT (n.3096-8_3096-7insAACTTTTTTTTT)
c.903-8_903-7insAACTTTTTTTTT (n.903-8_903-7insAACTTTTTTTTT)
c.3819-8_3819-7insAACTTTTTTTTT (n.3819-8_3819-7insAACTTTTTTTTT)
c.4095-8_4095-7insAACTTTTTTTTT (n.4095-8_4095-7insAACTTTTTTTTT)
c.3912-8_3912-7insAACTTTTTTTTT (n.3912-8_3912-7insAACTTTTTTTTT)
c.3798-8_3798-7insAACTTTTTTTTT (n.3798-8_3798-7insAACTTTTTTTTT)
c.3189-8_3189-7insAACTTTTTTTTT (n.3189-8_3189-7insAACTTTTTTTTT)
ClinVar dbSNP
2g.47806771_47806772insAACTTTTTTTTTTTCA2658970240FBXO11,MSH6c.3705-8_3705-7insAACTTTTTTTTTTT (n.3705-8_3705-7insAACTTTTTTTTTTT)
c.3618-8_3618-7insAACTTTTTTTTTTT (n.3618-8_3618-7insAACTTTTTTTTTTT)
n.4676-8_4676-7insAACTTTTTTTTTTT
c.2436-8_2436-7insAACTTTTTTTTTTT (n.2436-8_2436-7insAACTTTTTTTTTTT)
c.4008-8_4008-7insAACTTTTTTTTTTT (n.4008-8_4008-7insAACTTTTTTTTTTT)
c.1457-8_1457-7insAACTTTTTTTTTTT (n.1457-8_1457-7insAACTTTTTTTTTTT)
c.2775-8_2775-7insAACTTTTTTTTTTT (n.2775-8_2775-7insAACTTTTTTTTTTT)
n.2972_2973insAACTTTTTTTTTTT
n.2597-8_2597-7insAACTTTTTTTTTTT
n.2264-8_2264-7insAACTTTTTTTTTTT
n.2666-8_2666-7insAACTTTTTTTTTTT
n.1411-8_1411-7insAACTTTTTTTTTTT
n.3296-8_3296-7insAACTTTTTTTTTTT
n.3976_3977insAAAAAAAAAAAGTT
n.4238_4239insAAAAAAAAAAAGTT
c.4002-8_4002-7insAACTTTTTTTTTTT (n.4002-8_4002-7insAACTTTTTTTTTTT)
c.3612-8_3612-7insAACTTTTTTTTTTT (n.3612-8_3612-7insAACTTTTTTTTTTT)
c.169+1423_169+1424insAAAAAAAAAAAGTT (n.169+1423_169+1424insAAAAAAAAAAAGTT)
c.*124+1222_*124+1223insAAAAAAAAAAAGTT (n.*124+1222_*124+1223insAAAAAAAAAAAGTT)
c.*3349-8_*3349-7insAACTTTTTTTTTTT (n.*3349-8_*3349-7insAACTTTTTTTTTTT)
n.3138_3139insAAAAAAAAAAAGTT
c.3096-8_3096-7insAACTTTTTTTTTTT (n.3096-8_3096-7insAACTTTTTTTTTTT)
c.903-8_903-7insAACTTTTTTTTTTT (n.903-8_903-7insAACTTTTTTTTTTT)
c.3819-8_3819-7insAACTTTTTTTTTTT (n.3819-8_3819-7insAACTTTTTTTTTTT)
c.4095-8_4095-7insAACTTTTTTTTTTT (n.4095-8_4095-7insAACTTTTTTTTTTT)
c.3912-8_3912-7insAACTTTTTTTTTTT (n.3912-8_3912-7insAACTTTTTTTTTTT)
c.3798-8_3798-7insAACTTTTTTTTTTT (n.3798-8_3798-7insAACTTTTTTTTTTT)
c.3189-8_3189-7insAACTTTTTTTTTTT (n.3189-8_3189-7insAACTTTTTTTTTTT)
gnomAD v4
2g.47806771_47806772insAATTTTTTTTTTTTCA2658970225FBXO11,MSH6c.3705-8_3705-7insAATTTTTTTTTTTT (n.3705-8_3705-7insAATTTTTTTTTTTT)
c.3618-8_3618-7insAATTTTTTTTTTTT (n.3618-8_3618-7insAATTTTTTTTTTTT)
n.4676-8_4676-7insAATTTTTTTTTTTT
c.2436-8_2436-7insAATTTTTTTTTTTT (n.2436-8_2436-7insAATTTTTTTTTTTT)
c.4008-8_4008-7insAATTTTTTTTTTTT (n.4008-8_4008-7insAATTTTTTTTTTTT)
c.1457-8_1457-7insAATTTTTTTTTTTT (n.1457-8_1457-7insAATTTTTTTTTTTT)
c.2775-8_2775-7insAATTTTTTTTTTTT (n.2775-8_2775-7insAATTTTTTTTTTTT)
n.2972_2973insAATTTTTTTTTTTT
n.2597-8_2597-7insAATTTTTTTTTTTT
n.2264-8_2264-7insAATTTTTTTTTTTT
n.2666-8_2666-7insAATTTTTTTTTTTT
n.1411-8_1411-7insAATTTTTTTTTTTT
n.3296-8_3296-7insAATTTTTTTTTTTT
n.3976_3977insAAAAAAAAAAAATT
n.4238_4239insAAAAAAAAAAAATT
c.4002-8_4002-7insAATTTTTTTTTTTT (n.4002-8_4002-7insAATTTTTTTTTTTT)
c.3612-8_3612-7insAATTTTTTTTTTTT (n.3612-8_3612-7insAATTTTTTTTTTTT)
c.169+1423_169+1424insAAAAAAAAAAAATT (n.169+1423_169+1424insAAAAAAAAAAAATT)
c.*124+1222_*124+1223insAAAAAAAAAAAATT (n.*124+1222_*124+1223insAAAAAAAAAAAATT)
c.*3349-8_*3349-7insAATTTTTTTTTTTT (n.*3349-8_*3349-7insAATTTTTTTTTTTT)
n.3138_3139insAAAAAAAAAAAATT
c.3096-8_3096-7insAATTTTTTTTTTTT (n.3096-8_3096-7insAATTTTTTTTTTTT)
c.903-8_903-7insAATTTTTTTTTTTT (n.903-8_903-7insAATTTTTTTTTTTT)
c.3819-8_3819-7insAATTTTTTTTTTTT (n.3819-8_3819-7insAATTTTTTTTTTTT)
c.4095-8_4095-7insAATTTTTTTTTTTT (n.4095-8_4095-7insAATTTTTTTTTTTT)
c.3912-8_3912-7insAATTTTTTTTTTTT (n.3912-8_3912-7insAATTTTTTTTTTTT)
c.3798-8_3798-7insAATTTTTTTTTTTT (n.3798-8_3798-7insAATTTTTTTTTTTT)
c.3189-8_3189-7insAATTTTTTTTTTTT (n.3189-8_3189-7insAATTTTTTTTTTTT)
gnomAD v4
2g.47806771_47806772insATTTTTTTTTTTTTCA2658970224FBXO11,MSH6c.3705-8_3705-7insATTTTTTTTTTTTT (n.3705-8_3705-7insATTTTTTTTTTTTT)
c.3618-8_3618-7insATTTTTTTTTTTTT (n.3618-8_3618-7insATTTTTTTTTTTTT)
n.4676-8_4676-7insATTTTTTTTTTTTT
c.2436-8_2436-7insATTTTTTTTTTTTT (n.2436-8_2436-7insATTTTTTTTTTTTT)
c.4008-8_4008-7insATTTTTTTTTTTTT (n.4008-8_4008-7insATTTTTTTTTTTTT)
c.1457-8_1457-7insATTTTTTTTTTTTT (n.1457-8_1457-7insATTTTTTTTTTTTT)
c.2775-8_2775-7insATTTTTTTTTTTTT (n.2775-8_2775-7insATTTTTTTTTTTTT)
n.2972_2973insATTTTTTTTTTTTT
n.2597-8_2597-7insATTTTTTTTTTTTT
n.2264-8_2264-7insATTTTTTTTTTTTT
n.2666-8_2666-7insATTTTTTTTTTTTT
n.1411-8_1411-7insATTTTTTTTTTTTT
n.3296-8_3296-7insATTTTTTTTTTTTT
n.3976_3977insAAAAAAAAAAAAAT
n.4238_4239insAAAAAAAAAAAAAT
c.4002-8_4002-7insATTTTTTTTTTTTT (n.4002-8_4002-7insATTTTTTTTTTTTT)
c.3612-8_3612-7insATTTTTTTTTTTTT (n.3612-8_3612-7insATTTTTTTTTTTTT)
c.169+1423_169+1424insAAAAAAAAAAAAAT (n.169+1423_169+1424insAAAAAAAAAAAAAT)
c.*124+1222_*124+1223insAAAAAAAAAAAAAT (n.*124+1222_*124+1223insAAAAAAAAAAAAAT)
c.*3349-8_*3349-7insATTTTTTTTTTTTT (n.*3349-8_*3349-7insATTTTTTTTTTTTT)
n.3138_3139insAAAAAAAAAAAAAT
c.3096-8_3096-7insATTTTTTTTTTTTT (n.3096-8_3096-7insATTTTTTTTTTTTT)
c.903-8_903-7insATTTTTTTTTTTTT (n.903-8_903-7insATTTTTTTTTTTTT)
c.3819-8_3819-7insATTTTTTTTTTTTT (n.3819-8_3819-7insATTTTTTTTTTTTT)
c.4095-8_4095-7insATTTTTTTTTTTTT (n.4095-8_4095-7insATTTTTTTTTTTTT)
c.3912-8_3912-7insATTTTTTTTTTTTT (n.3912-8_3912-7insATTTTTTTTTTTTT)
c.3798-8_3798-7insATTTTTTTTTTTTT (n.3798-8_3798-7insATTTTTTTTTTTTT)
c.3189-8_3189-7insATTTTTTTTTTTTT (n.3189-8_3189-7insATTTTTTTTTTTTT)
gnomAD v4
2g.47806771_47806772insAACTTTTTTTTTTTTCA915943990FBXO11,MSH6c.3705-8_3705-7insAACTTTTTTTTTTTT (n.3705-8_3705-7insAACTTTTTTTTTTTT)
c.3618-8_3618-7insAACTTTTTTTTTTTT (n.3618-8_3618-7insAACTTTTTTTTTTTT)
n.4676-8_4676-7insAACTTTTTTTTTTTT
c.2436-8_2436-7insAACTTTTTTTTTTTT (n.2436-8_2436-7insAACTTTTTTTTTTTT)
c.4008-8_4008-7insAACTTTTTTTTTTTT (n.4008-8_4008-7insAACTTTTTTTTTTTT)
c.1457-8_1457-7insAACTTTTTTTTTTTT (n.1457-8_1457-7insAACTTTTTTTTTTTT)
c.2775-8_2775-7insAACTTTTTTTTTTTT (n.2775-8_2775-7insAACTTTTTTTTTTTT)
n.2972_2973insAACTTTTTTTTTTTT
n.2597-8_2597-7insAACTTTTTTTTTTTT
n.2264-8_2264-7insAACTTTTTTTTTTTT
n.2666-8_2666-7insAACTTTTTTTTTTTT
n.1411-8_1411-7insAACTTTTTTTTTTTT
n.3296-8_3296-7insAACTTTTTTTTTTTT
n.3976_3977insAAAAAAAAAAAAGTT
n.4238_4239insAAAAAAAAAAAAGTT
c.4002-8_4002-7insAACTTTTTTTTTTTT (n.4002-8_4002-7insAACTTTTTTTTTTTT)
c.3612-8_3612-7insAACTTTTTTTTTTTT (n.3612-8_3612-7insAACTTTTTTTTTTTT)
c.169+1423_169+1424insAAAAAAAAAAAAGTT (n.169+1423_169+1424insAAAAAAAAAAAAGTT)
c.*124+1222_*124+1223insAAAAAAAAAAAAGTT (n.*124+1222_*124+1223insAAAAAAAAAAAAGTT)
c.*3349-8_*3349-7insAACTTTTTTTTTTTT (n.*3349-8_*3349-7insAACTTTTTTTTTTTT)
n.3138_3139insAAAAAAAAAAAAGTT
c.3096-8_3096-7insAACTTTTTTTTTTTT (n.3096-8_3096-7insAACTTTTTTTTTTTT)
c.903-8_903-7insAACTTTTTTTTTTTT (n.903-8_903-7insAACTTTTTTTTTTTT)
c.3819-8_3819-7insAACTTTTTTTTTTTT (n.3819-8_3819-7insAACTTTTTTTTTTTT)
c.4095-8_4095-7insAACTTTTTTTTTTTT (n.4095-8_4095-7insAACTTTTTTTTTTTT)
c.3912-8_3912-7insAACTTTTTTTTTTTT (n.3912-8_3912-7insAACTTTTTTTTTTTT)
c.3798-8_3798-7insAACTTTTTTTTTTTT (n.3798-8_3798-7insAACTTTTTTTTTTTT)
c.3189-8_3189-7insAACTTTTTTTTTTTT (n.3189-8_3189-7insAACTTTTTTTTTTTT)
ClinVar dbSNP gnomAD v4
2g.47806771_47806772insAATTTTTTTTTTTTTCA2597473926FBXO11,MSH6c.3705-8_3705-7insAATTTTTTTTTTTTT (n.3705-8_3705-7insAATTTTTTTTTTTTT)
c.3618-8_3618-7insAATTTTTTTTTTTTT (n.3618-8_3618-7insAATTTTTTTTTTTTT)
n.4676-8_4676-7insAATTTTTTTTTTTTT
c.2436-8_2436-7insAATTTTTTTTTTTTT (n.2436-8_2436-7insAATTTTTTTTTTTTT)
c.4008-8_4008-7insAATTTTTTTTTTTTT (n.4008-8_4008-7insAATTTTTTTTTTTTT)
c.1457-8_1457-7insAATTTTTTTTTTTTT (n.1457-8_1457-7insAATTTTTTTTTTTTT)
c.2775-8_2775-7insAATTTTTTTTTTTTT (n.2775-8_2775-7insAATTTTTTTTTTTTT)
n.2972_2973insAATTTTTTTTTTTTT
n.2597-8_2597-7insAATTTTTTTTTTTTT
n.2264-8_2264-7insAATTTTTTTTTTTTT
n.2666-8_2666-7insAATTTTTTTTTTTTT
n.1411-8_1411-7insAATTTTTTTTTTTTT
n.3296-8_3296-7insAATTTTTTTTTTTTT
n.3976_3977insAAAAAAAAAAAAATT
n.4238_4239insAAAAAAAAAAAAATT
c.4002-8_4002-7insAATTTTTTTTTTTTT (n.4002-8_4002-7insAATTTTTTTTTTTTT)
c.3612-8_3612-7insAATTTTTTTTTTTTT (n.3612-8_3612-7insAATTTTTTTTTTTTT)
c.169+1423_169+1424insAAAAAAAAAAAAATT (n.169+1423_169+1424insAAAAAAAAAAAAATT)
c.*124+1222_*124+1223insAAAAAAAAAAAAATT (n.*124+1222_*124+1223insAAAAAAAAAAAAATT)
c.*3349-8_*3349-7insAATTTTTTTTTTTTT (n.*3349-8_*3349-7insAATTTTTTTTTTTTT)
n.3138_3139insAAAAAAAAAAAAATT
c.3096-8_3096-7insAATTTTTTTTTTTTT (n.3096-8_3096-7insAATTTTTTTTTTTTT)
c.903-8_903-7insAATTTTTTTTTTTTT (n.903-8_903-7insAATTTTTTTTTTTTT)
c.3819-8_3819-7insAATTTTTTTTTTTTT (n.3819-8_3819-7insAATTTTTTTTTTTTT)
c.4095-8_4095-7insAATTTTTTTTTTTTT (n.4095-8_4095-7insAATTTTTTTTTTTTT)
c.3912-8_3912-7insAATTTTTTTTTTTTT (n.3912-8_3912-7insAATTTTTTTTTTTTT)
c.3798-8_3798-7insAATTTTTTTTTTTTT (n.3798-8_3798-7insAATTTTTTTTTTTTT)
c.3189-8_3189-7insAATTTTTTTTTTTTT (n.3189-8_3189-7insAATTTTTTTTTTTTT)
gnomAD v3 gnomAD v4
2g.47806771_47806772insACTTTTTTTTTTTTTCA2658970222FBXO11,MSH6c.3705-8_3705-7insACTTTTTTTTTTTTT (n.3705-8_3705-7insACTTTTTTTTTTTTT)
c.3618-8_3618-7insACTTTTTTTTTTTTT (n.3618-8_3618-7insACTTTTTTTTTTTTT)
n.4676-8_4676-7insACTTTTTTTTTTTTT
c.2436-8_2436-7insACTTTTTTTTTTTTT (n.2436-8_2436-7insACTTTTTTTTTTTTT)
c.4008-8_4008-7insACTTTTTTTTTTTTT (n.4008-8_4008-7insACTTTTTTTTTTTTT)
c.1457-8_1457-7insACTTTTTTTTTTTTT (n.1457-8_1457-7insACTTTTTTTTTTTTT)
c.2775-8_2775-7insACTTTTTTTTTTTTT (n.2775-8_2775-7insACTTTTTTTTTTTTT)
n.2972_2973insACTTTTTTTTTTTTT
n.2597-8_2597-7insACTTTTTTTTTTTTT
n.2264-8_2264-7insACTTTTTTTTTTTTT
n.2666-8_2666-7insACTTTTTTTTTTTTT
n.1411-8_1411-7insACTTTTTTTTTTTTT
n.3296-8_3296-7insACTTTTTTTTTTTTT
n.3976_3977insAAAAAAAAAAAAAGT
n.4238_4239insAAAAAAAAAAAAAGT
c.4002-8_4002-7insACTTTTTTTTTTTTT (n.4002-8_4002-7insACTTTTTTTTTTTTT)
c.3612-8_3612-7insACTTTTTTTTTTTTT (n.3612-8_3612-7insACTTTTTTTTTTTTT)
c.169+1423_169+1424insAAAAAAAAAAAAAGT (n.169+1423_169+1424insAAAAAAAAAAAAAGT)
c.*124+1222_*124+1223insAAAAAAAAAAAAAGT (n.*124+1222_*124+1223insAAAAAAAAAAAAAGT)
c.*3349-8_*3349-7insACTTTTTTTTTTTTT (n.*3349-8_*3349-7insACTTTTTTTTTTTTT)
n.3138_3139insAAAAAAAAAAAAAGT
c.3096-8_3096-7insACTTTTTTTTTTTTT (n.3096-8_3096-7insACTTTTTTTTTTTTT)
c.903-8_903-7insACTTTTTTTTTTTTT (n.903-8_903-7insACTTTTTTTTTTTTT)
c.3819-8_3819-7insACTTTTTTTTTTTTT (n.3819-8_3819-7insACTTTTTTTTTTTTT)
c.4095-8_4095-7insACTTTTTTTTTTTTT (n.4095-8_4095-7insACTTTTTTTTTTTTT)
c.3912-8_3912-7insACTTTTTTTTTTTTT (n.3912-8_3912-7insACTTTTTTTTTTTTT)
c.3798-8_3798-7insACTTTTTTTTTTTTT (n.3798-8_3798-7insACTTTTTTTTTTTTT)
c.3189-8_3189-7insACTTTTTTTTTTTTT (n.3189-8_3189-7insACTTTTTTTTTTTTT)
gnomAD v4
2g.47806771_47806772insAAATTTTTTTTTTTTTCA2658970228FBXO11,MSH6c.3705-8_3705-7insAAATTTTTTTTTTTTT (n.3705-8_3705-7insAAATTTTTTTTTTTTT)
c.3618-8_3618-7insAAATTTTTTTTTTTTT (n.3618-8_3618-7insAAATTTTTTTTTTTTT)
n.4676-8_4676-7insAAATTTTTTTTTTTTT
c.2436-8_2436-7insAAATTTTTTTTTTTTT (n.2436-8_2436-7insAAATTTTTTTTTTTTT)
c.4008-8_4008-7insAAATTTTTTTTTTTTT (n.4008-8_4008-7insAAATTTTTTTTTTTTT)
c.1457-8_1457-7insAAATTTTTTTTTTTTT (n.1457-8_1457-7insAAATTTTTTTTTTTTT)
c.2775-8_2775-7insAAATTTTTTTTTTTTT (n.2775-8_2775-7insAAATTTTTTTTTTTTT)
n.2972_2973insAAATTTTTTTTTTTTT
n.2597-8_2597-7insAAATTTTTTTTTTTTT
n.2264-8_2264-7insAAATTTTTTTTTTTTT
n.2666-8_2666-7insAAATTTTTTTTTTTTT
n.1411-8_1411-7insAAATTTTTTTTTTTTT
n.3296-8_3296-7insAAATTTTTTTTTTTTT
n.3976_3977insAAAAAAAAAAAAATTT
n.4238_4239insAAAAAAAAAAAAATTT
c.4002-8_4002-7insAAATTTTTTTTTTTTT (n.4002-8_4002-7insAAATTTTTTTTTTTTT)
c.3612-8_3612-7insAAATTTTTTTTTTTTT (n.3612-8_3612-7insAAATTTTTTTTTTTTT)
c.169+1423_169+1424insAAAAAAAAAAAAATTT (n.169+1423_169+1424insAAAAAAAAAAAAATTT)
c.*124+1222_*124+1223insAAAAAAAAAAAAATTT (n.*124+1222_*124+1223insAAAAAAAAAAAAATTT)
c.*3349-8_*3349-7insAAATTTTTTTTTTTTT (n.*3349-8_*3349-7insAAATTTTTTTTTTTTT)
n.3138_3139insAAAAAAAAAAAAATTT
c.3096-8_3096-7insAAATTTTTTTTTTTTT (n.3096-8_3096-7insAAATTTTTTTTTTTTT)
c.903-8_903-7insAAATTTTTTTTTTTTT (n.903-8_903-7insAAATTTTTTTTTTTTT)
c.3819-8_3819-7insAAATTTTTTTTTTTTT (n.3819-8_3819-7insAAATTTTTTTTTTTTT)
c.4095-8_4095-7insAAATTTTTTTTTTTTT (n.4095-8_4095-7insAAATTTTTTTTTTTTT)
c.3912-8_3912-7insAAATTTTTTTTTTTTT (n.3912-8_3912-7insAAATTTTTTTTTTTTT)
c.3798-8_3798-7insAAATTTTTTTTTTTTT (n.3798-8_3798-7insAAATTTTTTTTTTTTT)
c.3189-8_3189-7insAAATTTTTTTTTTTTT (n.3189-8_3189-7insAAATTTTTTTTTTTTT)
gnomAD v4
2g.47806771_47806772insAACTTTTTTTTTTTTTCA1649513FBXO11,MSH6c.3705-8_3705-7insAACTTTTTTTTTTTTT (n.3705-8_3705-7insAACTTTTTTTTTTTTT)
c.3618-8_3618-7insAACTTTTTTTTTTTTT (n.3618-8_3618-7insAACTTTTTTTTTTTTT)
n.4676-8_4676-7insAACTTTTTTTTTTTTT
c.2436-8_2436-7insAACTTTTTTTTTTTTT (n.2436-8_2436-7insAACTTTTTTTTTTTTT)
c.4008-8_4008-7insAACTTTTTTTTTTTTT (n.4008-8_4008-7insAACTTTTTTTTTTTTT)
c.1457-8_1457-7insAACTTTTTTTTTTTTT (n.1457-8_1457-7insAACTTTTTTTTTTTTT)
c.2775-8_2775-7insAACTTTTTTTTTTTTT (n.2775-8_2775-7insAACTTTTTTTTTTTTT)
n.2972_2973insAACTTTTTTTTTTTTT
n.2597-8_2597-7insAACTTTTTTTTTTTTT
n.2264-8_2264-7insAACTTTTTTTTTTTTT
n.2666-8_2666-7insAACTTTTTTTTTTTTT
n.1411-8_1411-7insAACTTTTTTTTTTTTT
n.3296-8_3296-7insAACTTTTTTTTTTTTT
n.3976_3977insAAAAAAAAAAAAAGTT
n.4238_4239insAAAAAAAAAAAAAGTT
c.4002-8_4002-7insAACTTTTTTTTTTTTT (n.4002-8_4002-7insAACTTTTTTTTTTTTT)
c.3612-8_3612-7insAACTTTTTTTTTTTTT (n.3612-8_3612-7insAACTTTTTTTTTTTTT)
c.169+1423_169+1424insAAAAAAAAAAAAAGTT (n.169+1423_169+1424insAAAAAAAAAAAAAGTT)
c.*124+1222_*124+1223insAAAAAAAAAAAAAGTT (n.*124+1222_*124+1223insAAAAAAAAAAAAAGTT)
c.*3349-8_*3349-7insAACTTTTTTTTTTTTT (n.*3349-8_*3349-7insAACTTTTTTTTTTTTT)
n.3138_3139insAAAAAAAAAAAAAGTT
c.3096-8_3096-7insAACTTTTTTTTTTTTT (n.3096-8_3096-7insAACTTTTTTTTTTTTT)
c.903-8_903-7insAACTTTTTTTTTTTTT (n.903-8_903-7insAACTTTTTTTTTTTTT)
c.3819-8_3819-7insAACTTTTTTTTTTTTT (n.3819-8_3819-7insAACTTTTTTTTTTTTT)
c.4095-8_4095-7insAACTTTTTTTTTTTTT (n.4095-8_4095-7insAACTTTTTTTTTTTTT)
c.3912-8_3912-7insAACTTTTTTTTTTTTT (n.3912-8_3912-7insAACTTTTTTTTTTTTT)
c.3798-8_3798-7insAACTTTTTTTTTTTTT (n.3798-8_3798-7insAACTTTTTTTTTTTTT)
c.3189-8_3189-7insAACTTTTTTTTTTTTT (n.3189-8_3189-7insAACTTTTTTTTTTTTT)
ClinVar dbSNP ExAC gnomAD v3 gnomAD v4
2g.47806771_47806772insAATTTTTTTTTTTTTTCA2658970219FBXO11,MSH6c.3705-8_3705-7insAATTTTTTTTTTTTTT (n.3705-8_3705-7insAATTTTTTTTTTTTTT)
c.3618-8_3618-7insAATTTTTTTTTTTTTT (n.3618-8_3618-7insAATTTTTTTTTTTTTT)
n.4676-8_4676-7insAATTTTTTTTTTTTTT
c.2436-8_2436-7insAATTTTTTTTTTTTTT (n.2436-8_2436-7insAATTTTTTTTTTTTTT)
c.4008-8_4008-7insAATTTTTTTTTTTTTT (n.4008-8_4008-7insAATTTTTTTTTTTTTT)
c.1457-8_1457-7insAATTTTTTTTTTTTTT (n.1457-8_1457-7insAATTTTTTTTTTTTTT)
c.2775-8_2775-7insAATTTTTTTTTTTTTT (n.2775-8_2775-7insAATTTTTTTTTTTTTT)
n.2972_2973insAATTTTTTTTTTTTTT
n.2597-8_2597-7insAATTTTTTTTTTTTTT
n.2264-8_2264-7insAATTTTTTTTTTTTTT
n.2666-8_2666-7insAATTTTTTTTTTTTTT
n.1411-8_1411-7insAATTTTTTTTTTTTTT
n.3296-8_3296-7insAATTTTTTTTTTTTTT
n.3976_3977insAAAAAAAAAAAAAATT
n.4238_4239insAAAAAAAAAAAAAATT
c.4002-8_4002-7insAATTTTTTTTTTTTTT (n.4002-8_4002-7insAATTTTTTTTTTTTTT)
c.3612-8_3612-7insAATTTTTTTTTTTTTT (n.3612-8_3612-7insAATTTTTTTTTTTTTT)
c.169+1423_169+1424insAAAAAAAAAAAAAATT (n.169+1423_169+1424insAAAAAAAAAAAAAATT)
c.*124+1222_*124+1223insAAAAAAAAAAAAAATT (n.*124+1222_*124+1223insAAAAAAAAAAAAAATT)
c.*3349-8_*3349-7insAATTTTTTTTTTTTTT (n.*3349-8_*3349-7insAATTTTTTTTTTTTTT)
n.3138_3139insAAAAAAAAAAAAAATT
c.3096-8_3096-7insAATTTTTTTTTTTTTT (n.3096-8_3096-7insAATTTTTTTTTTTTTT)
c.903-8_903-7insAATTTTTTTTTTTTTT (n.903-8_903-7insAATTTTTTTTTTTTTT)
c.3819-8_3819-7insAATTTTTTTTTTTTTT (n.3819-8_3819-7insAATTTTTTTTTTTTTT)
c.4095-8_4095-7insAATTTTTTTTTTTTTT (n.4095-8_4095-7insAATTTTTTTTTTTTTT)
c.3912-8_3912-7insAATTTTTTTTTTTTTT (n.3912-8_3912-7insAATTTTTTTTTTTTTT)
c.3798-8_3798-7insAATTTTTTTTTTTTTT (n.3798-8_3798-7insAATTTTTTTTTTTTTT)
c.3189-8_3189-7insAATTTTTTTTTTTTTT (n.3189-8_3189-7insAATTTTTTTTTTTTTT)
gnomAD v4
2g.47806771_47806772insACTTTTTTTTTTTTTTCA2658970223FBXO11,MSH6c.3705-8_3705-7insACTTTTTTTTTTTTTT (n.3705-8_3705-7insACTTTTTTTTTTTTTT)
c.3618-8_3618-7insACTTTTTTTTTTTTTT (n.3618-8_3618-7insACTTTTTTTTTTTTTT)
n.4676-8_4676-7insACTTTTTTTTTTTTTT
c.2436-8_2436-7insACTTTTTTTTTTTTTT (n.2436-8_2436-7insACTTTTTTTTTTTTTT)
c.4008-8_4008-7insACTTTTTTTTTTTTTT (n.4008-8_4008-7insACTTTTTTTTTTTTTT)
c.1457-8_1457-7insACTTTTTTTTTTTTTT (n.1457-8_1457-7insACTTTTTTTTTTTTTT)
c.2775-8_2775-7insACTTTTTTTTTTTTTT (n.2775-8_2775-7insACTTTTTTTTTTTTTT)
n.2972_2973insACTTTTTTTTTTTTTT
n.2597-8_2597-7insACTTTTTTTTTTTTTT
n.2264-8_2264-7insACTTTTTTTTTTTTTT
n.2666-8_2666-7insACTTTTTTTTTTTTTT
n.1411-8_1411-7insACTTTTTTTTTTTTTT
n.3296-8_3296-7insACTTTTTTTTTTTTTT
n.3976_3977insAAAAAAAAAAAAAAGT
n.4238_4239insAAAAAAAAAAAAAAGT
c.4002-8_4002-7insACTTTTTTTTTTTTTT (n.4002-8_4002-7insACTTTTTTTTTTTTTT)
c.3612-8_3612-7insACTTTTTTTTTTTTTT (n.3612-8_3612-7insACTTTTTTTTTTTTTT)
c.169+1423_169+1424insAAAAAAAAAAAAAAGT (n.169+1423_169+1424insAAAAAAAAAAAAAAGT)
c.*124+1222_*124+1223insAAAAAAAAAAAAAAGT (n.*124+1222_*124+1223insAAAAAAAAAAAAAAGT)
c.*3349-8_*3349-7insACTTTTTTTTTTTTTT (n.*3349-8_*3349-7insACTTTTTTTTTTTTTT)
n.3138_3139insAAAAAAAAAAAAAAGT
c.3096-8_3096-7insACTTTTTTTTTTTTTT (n.3096-8_3096-7insACTTTTTTTTTTTTTT)
c.903-8_903-7insACTTTTTTTTTTTTTT (n.903-8_903-7insACTTTTTTTTTTTTTT)
c.3819-8_3819-7insACTTTTTTTTTTTTTT (n.3819-8_3819-7insACTTTTTTTTTTTTTT)
c.4095-8_4095-7insACTTTTTTTTTTTTTT (n.4095-8_4095-7insACTTTTTTTTTTTTTT)
c.3912-8_3912-7insACTTTTTTTTTTTTTT (n.3912-8_3912-7insACTTTTTTTTTTTTTT)
c.3798-8_3798-7insACTTTTTTTTTTTTTT (n.3798-8_3798-7insACTTTTTTTTTTTTTT)
c.3189-8_3189-7insACTTTTTTTTTTTTTT (n.3189-8_3189-7insACTTTTTTTTTTTTTT)
gnomAD v4
2g.47806771_47806772insAACTTTTTTTTTTTTTTCA1649514FBXO11,MSH6c.3705-8_3705-7insAACTTTTTTTTTTTTTT (n.3705-8_3705-7insAACTTTTTTTTTTTTTT)
c.3618-8_3618-7insAACTTTTTTTTTTTTTT (n.3618-8_3618-7insAACTTTTTTTTTTTTTT)
n.4676-8_4676-7insAACTTTTTTTTTTTTTT
c.2436-8_2436-7insAACTTTTTTTTTTTTTT (n.2436-8_2436-7insAACTTTTTTTTTTTTTT)
c.4008-8_4008-7insAACTTTTTTTTTTTTTT (n.4008-8_4008-7insAACTTTTTTTTTTTTTT)
c.1457-8_1457-7insAACTTTTTTTTTTTTTT (n.1457-8_1457-7insAACTTTTTTTTTTTTTT)
c.2775-8_2775-7insAACTTTTTTTTTTTTTT (n.2775-8_2775-7insAACTTTTTTTTTTTTTT)
n.2972_2973insAACTTTTTTTTTTTTTT
n.2597-8_2597-7insAACTTTTTTTTTTTTTT
n.2264-8_2264-7insAACTTTTTTTTTTTTTT
n.2666-8_2666-7insAACTTTTTTTTTTTTTT
n.1411-8_1411-7insAACTTTTTTTTTTTTTT
n.3296-8_3296-7insAACTTTTTTTTTTTTTT
n.3976_3977insAAAAAAAAAAAAAAGTT
n.4238_4239insAAAAAAAAAAAAAAGTT
c.4002-8_4002-7insAACTTTTTTTTTTTTTT (n.4002-8_4002-7insAACTTTTTTTTTTTTTT)
c.3612-8_3612-7insAACTTTTTTTTTTTTTT (n.3612-8_3612-7insAACTTTTTTTTTTTTTT)
c.169+1423_169+1424insAAAAAAAAAAAAAAGTT (n.169+1423_169+1424insAAAAAAAAAAAAAAGTT)
c.*124+1222_*124+1223insAAAAAAAAAAAAAAGTT (n.*124+1222_*124+1223insAAAAAAAAAAAAAAGTT)
c.*3349-8_*3349-7insAACTTTTTTTTTTTTTT (n.*3349-8_*3349-7insAACTTTTTTTTTTTTTT)
n.3138_3139insAAAAAAAAAAAAAAGTT
c.3096-8_3096-7insAACTTTTTTTTTTTTTT (n.3096-8_3096-7insAACTTTTTTTTTTTTTT)
c.903-8_903-7insAACTTTTTTTTTTTTTT (n.903-8_903-7insAACTTTTTTTTTTTTTT)
c.3819-8_3819-7insAACTTTTTTTTTTTTTT (n.3819-8_3819-7insAACTTTTTTTTTTTTTT)
c.4095-8_4095-7insAACTTTTTTTTTTTTTT (n.4095-8_4095-7insAACTTTTTTTTTTTTTT)
c.3912-8_3912-7insAACTTTTTTTTTTTTTT (n.3912-8_3912-7insAACTTTTTTTTTTTTTT)
c.3798-8_3798-7insAACTTTTTTTTTTTTTT (n.3798-8_3798-7insAACTTTTTTTTTTTTTT)
c.3189-8_3189-7insAACTTTTTTTTTTTTTT (n.3189-8_3189-7insAACTTTTTTTTTTTTTT)
ClinVar dbSNP ExAC gnomAD v3 gnomAD v4
2g.47806771_47806772insAATTTTTTTTTTTTTTTCA2658970220FBXO11,MSH6c.3705-8_3705-7insAATTTTTTTTTTTTTTT (n.3705-8_3705-7insAATTTTTTTTTTTTTTT)
c.3618-8_3618-7insAATTTTTTTTTTTTTTT (n.3618-8_3618-7insAATTTTTTTTTTTTTTT)
n.4676-8_4676-7insAATTTTTTTTTTTTTTT
c.2436-8_2436-7insAATTTTTTTTTTTTTTT (n.2436-8_2436-7insAATTTTTTTTTTTTTTT)
c.4008-8_4008-7insAATTTTTTTTTTTTTTT (n.4008-8_4008-7insAATTTTTTTTTTTTTTT)
c.1457-8_1457-7insAATTTTTTTTTTTTTTT (n.1457-8_1457-7insAATTTTTTTTTTTTTTT)
c.2775-8_2775-7insAATTTTTTTTTTTTTTT (n.2775-8_2775-7insAATTTTTTTTTTTTTTT)
n.2972_2973insAATTTTTTTTTTTTTTT
n.2597-8_2597-7insAATTTTTTTTTTTTTTT
n.2264-8_2264-7insAATTTTTTTTTTTTTTT
n.2666-8_2666-7insAATTTTTTTTTTTTTTT
n.1411-8_1411-7insAATTTTTTTTTTTTTTT
n.3296-8_3296-7insAATTTTTTTTTTTTTTT
n.3976_3977insAAAAAAAAAAAAAAATT
n.4238_4239insAAAAAAAAAAAAAAATT
c.4002-8_4002-7insAATTTTTTTTTTTTTTT (n.4002-8_4002-7insAATTTTTTTTTTTTTTT)
c.3612-8_3612-7insAATTTTTTTTTTTTTTT (n.3612-8_3612-7insAATTTTTTTTTTTTTTT)
c.169+1423_169+1424insAAAAAAAAAAAAAAATT (n.169+1423_169+1424insAAAAAAAAAAAAAAATT)
c.*124+1222_*124+1223insAAAAAAAAAAAAAAATT (n.*124+1222_*124+1223insAAAAAAAAAAAAAAATT)
c.*3349-8_*3349-7insAATTTTTTTTTTTTTTT (n.*3349-8_*3349-7insAATTTTTTTTTTTTTTT)
n.3138_3139insAAAAAAAAAAAAAAATT
c.3096-8_3096-7insAATTTTTTTTTTTTTTT (n.3096-8_3096-7insAATTTTTTTTTTTTTTT)
c.903-8_903-7insAATTTTTTTTTTTTTTT (n.903-8_903-7insAATTTTTTTTTTTTTTT)
c.3819-8_3819-7insAATTTTTTTTTTTTTTT (n.3819-8_3819-7insAATTTTTTTTTTTTTTT)
c.4095-8_4095-7insAATTTTTTTTTTTTTTT (n.4095-8_4095-7insAATTTTTTTTTTTTTTT)
c.3912-8_3912-7insAATTTTTTTTTTTTTTT (n.3912-8_3912-7insAATTTTTTTTTTTTTTT)
c.3798-8_3798-7insAATTTTTTTTTTTTTTT (n.3798-8_3798-7insAATTTTTTTTTTTTTTT)
c.3189-8_3189-7insAATTTTTTTTTTTTTTT (n.3189-8_3189-7insAATTTTTTTTTTTTTTT)
gnomAD v4
2g.47806771_47806772insAACTTTTTTTTTTTTTTTCA2658970227FBXO11,MSH6c.3705-8_3705-7insAACTTTTTTTTTTTTTTT (n.3705-8_3705-7insAACTTTTTTTTTTTTTTT)
c.3618-8_3618-7insAACTTTTTTTTTTTTTTT (n.3618-8_3618-7insAACTTTTTTTTTTTTTTT)
n.4676-8_4676-7insAACTTTTTTTTTTTTTTT
c.2436-8_2436-7insAACTTTTTTTTTTTTTTT (n.2436-8_2436-7insAACTTTTTTTTTTTTTTT)
c.4008-8_4008-7insAACTTTTTTTTTTTTTTT (n.4008-8_4008-7insAACTTTTTTTTTTTTTTT)
c.1457-8_1457-7insAACTTTTTTTTTTTTTTT (n.1457-8_1457-7insAACTTTTTTTTTTTTTTT)
c.2775-8_2775-7insAACTTTTTTTTTTTTTTT (n.2775-8_2775-7insAACTTTTTTTTTTTTTTT)
n.2972_2973insAACTTTTTTTTTTTTTTT
n.2597-8_2597-7insAACTTTTTTTTTTTTTTT
n.2264-8_2264-7insAACTTTTTTTTTTTTTTT
n.2666-8_2666-7insAACTTTTTTTTTTTTTTT
n.1411-8_1411-7insAACTTTTTTTTTTTTTTT
n.3296-8_3296-7insAACTTTTTTTTTTTTTTT
n.3976_3977insAAAAAAAAAAAAAAAGTT
n.4238_4239insAAAAAAAAAAAAAAAGTT
c.4002-8_4002-7insAACTTTTTTTTTTTTTTT (n.4002-8_4002-7insAACTTTTTTTTTTTTTTT)
c.3612-8_3612-7insAACTTTTTTTTTTTTTTT (n.3612-8_3612-7insAACTTTTTTTTTTTTTTT)
c.169+1423_169+1424insAAAAAAAAAAAAAAAGTT (n.169+1423_169+1424insAAAAAAAAAAAAAAAGTT)
c.*124+1222_*124+1223insAAAAAAAAAAAAAAAGTT (n.*124+1222_*124+1223insAAAAAAAAAAAAAAAGTT)
c.*3349-8_*3349-7insAACTTTTTTTTTTTTTTT (n.*3349-8_*3349-7insAACTTTTTTTTTTTTTTT)
n.3138_3139insAAAAAAAAAAAAAAAGTT
c.3096-8_3096-7insAACTTTTTTTTTTTTTTT (n.3096-8_3096-7insAACTTTTTTTTTTTTTTT)
c.903-8_903-7insAACTTTTTTTTTTTTTTT (n.903-8_903-7insAACTTTTTTTTTTTTTTT)
c.3819-8_3819-7insAACTTTTTTTTTTTTTTT (n.3819-8_3819-7insAACTTTTTTTTTTTTTTT)
c.4095-8_4095-7insAACTTTTTTTTTTTTTTT (n.4095-8_4095-7insAACTTTTTTTTTTTTTTT)
c.3912-8_3912-7insAACTTTTTTTTTTTTTTT (n.3912-8_3912-7insAACTTTTTTTTTTTTTTT)
c.3798-8_3798-7insAACTTTTTTTTTTTTTTT (n.3798-8_3798-7insAACTTTTTTTTTTTTTTT)
c.3189-8_3189-7insAACTTTTTTTTTTTTTTT (n.3189-8_3189-7insAACTTTTTTTTTTTTTTT)
gnomAD v4
2g.47806771_47806772insAACTTTTTTTTTTTTTTTTCA2658970217FBXO11,MSH6c.3705-8_3705-7insAACTTTTTTTTTTTTTTTT (n.3705-8_3705-7insAACTTTTTTTTTTTTTTTT)
c.3618-8_3618-7insAACTTTTTTTTTTTTTTTT (n.3618-8_3618-7insAACTTTTTTTTTTTTTTTT)
n.4676-8_4676-7insAACTTTTTTTTTTTTTTTT
c.2436-8_2436-7insAACTTTTTTTTTTTTTTTT (n.2436-8_2436-7insAACTTTTTTTTTTTTTTTT)
c.4008-8_4008-7insAACTTTTTTTTTTTTTTTT (n.4008-8_4008-7insAACTTTTTTTTTTTTTTTT)
c.1457-8_1457-7insAACTTTTTTTTTTTTTTTT (n.1457-8_1457-7insAACTTTTTTTTTTTTTTTT)
c.2775-8_2775-7insAACTTTTTTTTTTTTTTTT (n.2775-8_2775-7insAACTTTTTTTTTTTTTTTT)
n.2972_2973insAACTTTTTTTTTTTTTTTT
n.2597-8_2597-7insAACTTTTTTTTTTTTTTTT
n.2264-8_2264-7insAACTTTTTTTTTTTTTTTT
n.2666-8_2666-7insAACTTTTTTTTTTTTTTTT
n.1411-8_1411-7insAACTTTTTTTTTTTTTTTT
n.3296-8_3296-7insAACTTTTTTTTTTTTTTTT
n.3976_3977insAAAAAAAAAAAAAAAAGTT
n.4238_4239insAAAAAAAAAAAAAAAAGTT
c.4002-8_4002-7insAACTTTTTTTTTTTTTTTT (n.4002-8_4002-7insAACTTTTTTTTTTTTTTTT)
c.3612-8_3612-7insAACTTTTTTTTTTTTTTTT (n.3612-8_3612-7insAACTTTTTTTTTTTTTTTT)
c.169+1423_169+1424insAAAAAAAAAAAAAAAAGTT (n.169+1423_169+1424insAAAAAAAAAAAAAAAAGTT)
c.*124+1222_*124+1223insAAAAAAAAAAAAAAAAGTT (n.*124+1222_*124+1223insAAAAAAAAAAAAAAAAGTT)
c.*3349-8_*3349-7insAACTTTTTTTTTTTTTTTT (n.*3349-8_*3349-7insAACTTTTTTTTTTTTTTTT)
n.3138_3139insAAAAAAAAAAAAAAAAGTT
c.3096-8_3096-7insAACTTTTTTTTTTTTTTTT (n.3096-8_3096-7insAACTTTTTTTTTTTTTTTT)
c.903-8_903-7insAACTTTTTTTTTTTTTTTT (n.903-8_903-7insAACTTTTTTTTTTTTTTTT)
c.3819-8_3819-7insAACTTTTTTTTTTTTTTTT (n.3819-8_3819-7insAACTTTTTTTTTTTTTTTT)
c.4095-8_4095-7insAACTTTTTTTTTTTTTTTT (n.4095-8_4095-7insAACTTTTTTTTTTTTTTTT)
c.3912-8_3912-7insAACTTTTTTTTTTTTTTTT (n.3912-8_3912-7insAACTTTTTTTTTTTTTTTT)
c.3798-8_3798-7insAACTTTTTTTTTTTTTTTT (n.3798-8_3798-7insAACTTTTTTTTTTTTTTTT)
c.3189-8_3189-7insAACTTTTTTTTTTTTTTTT (n.3189-8_3189-7insAACTTTTTTTTTTTTTTTT)
gnomAD v4
2g.47806771_47806772insAACTTTTTTTTTTTTTTTTTATCA2658970218FBXO11,MSH6c.3705-8_3705-7insAACTTTTTTTTTTTTTTTTTAT (n.3705-8_3705-7insAACTTTTTTTTTTTTTTTTTAT)
c.3618-8_3618-7insAACTTTTTTTTTTTTTTTTTAT (n.3618-8_3618-7insAACTTTTTTTTTTTTTTTTTAT)
n.4676-8_4676-7insAACTTTTTTTTTTTTTTTTTAT
c.2436-8_2436-7insAACTTTTTTTTTTTTTTTTTAT (n.2436-8_2436-7insAACTTTTTTTTTTTTTTTTTAT)
c.4008-8_4008-7insAACTTTTTTTTTTTTTTTTTAT (n.4008-8_4008-7insAACTTTTTTTTTTTTTTTTTAT)
c.1457-8_1457-7insAACTTTTTTTTTTTTTTTTTAT (n.1457-8_1457-7insAACTTTTTTTTTTTTTTTTTAT)
c.2775-8_2775-7insAACTTTTTTTTTTTTTTTTTAT (n.2775-8_2775-7insAACTTTTTTTTTTTTTTTTTAT)
n.2972_2973insAACTTTTTTTTTTTTTTTTTAT
n.2597-8_2597-7insAACTTTTTTTTTTTTTTTTTAT
n.2264-8_2264-7insAACTTTTTTTTTTTTTTTTTAT
n.2666-8_2666-7insAACTTTTTTTTTTTTTTTTTAT
n.1411-8_1411-7insAACTTTTTTTTTTTTTTTTTAT
n.3296-8_3296-7insAACTTTTTTTTTTTTTTTTTAT
n.3976_3977insATAAAAAAAAAAAAAAAAAGTT
n.4238_4239insATAAAAAAAAAAAAAAAAAGTT
c.4002-8_4002-7insAACTTTTTTTTTTTTTTTTTAT (n.4002-8_4002-7insAACTTTTTTTTTTTTTTTTTAT)
c.3612-8_3612-7insAACTTTTTTTTTTTTTTTTTAT (n.3612-8_3612-7insAACTTTTTTTTTTTTTTTTTAT)
c.169+1423_169+1424insATAAAAAAAAAAAAAAAAAGTT (n.169+1423_169+1424insATAAAAAAAAAAAAAAAAAGTT)
c.*124+1222_*124+1223insATAAAAAAAAAAAAAAAAAGTT (n.*124+1222_*124+1223insATAAAAAAAAAAAAAAAAAGTT)
c.*3349-8_*3349-7insAACTTTTTTTTTTTTTTTTTAT (n.*3349-8_*3349-7insAACTTTTTTTTTTTTTTTTTAT)
n.3138_3139insATAAAAAAAAAAAAAAAAAGTT
c.3096-8_3096-7insAACTTTTTTTTTTTTTTTTTAT (n.3096-8_3096-7insAACTTTTTTTTTTTTTTTTTAT)
c.903-8_903-7insAACTTTTTTTTTTTTTTTTTAT (n.903-8_903-7insAACTTTTTTTTTTTTTTTTTAT)
c.3819-8_3819-7insAACTTTTTTTTTTTTTTTTTAT (n.3819-8_3819-7insAACTTTTTTTTTTTTTTTTTAT)
c.4095-8_4095-7insAACTTTTTTTTTTTTTTTTTAT (n.4095-8_4095-7insAACTTTTTTTTTTTTTTTTTAT)
c.3912-8_3912-7insAACTTTTTTTTTTTTTTTTTAT (n.3912-8_3912-7insAACTTTTTTTTTTTTTTTTTAT)
c.3798-8_3798-7insAACTTTTTTTTTTTTTTTTTAT (n.3798-8_3798-7insAACTTTTTTTTTTTTTTTTTAT)
c.3189-8_3189-7insAACTTTTTTTTTTTTTTTTTAT (n.3189-8_3189-7insAACTTTTTTTTTTTTTTTTTAT)
gnomAD v4
2g.47806771_47806772insAACTTTTTTTTTTTTTTTTTTATCA1030297786FBXO11,MSH6c.3705-8_3705-7insAACTTTTTTTTTTTTTTTTTTAT (n.3705-8_3705-7insAACTTTTTTTTTTTTTTTTTTAT)
c.3618-8_3618-7insAACTTTTTTTTTTTTTTTTTTAT (n.3618-8_3618-7insAACTTTTTTTTTTTTTTTTTTAT)
n.4676-8_4676-7insAACTTTTTTTTTTTTTTTTTTAT
c.2436-8_2436-7insAACTTTTTTTTTTTTTTTTTTAT (n.2436-8_2436-7insAACTTTTTTTTTTTTTTTTTTAT)
c.4008-8_4008-7insAACTTTTTTTTTTTTTTTTTTAT (n.4008-8_4008-7insAACTTTTTTTTTTTTTTTTTTAT)
c.1457-8_1457-7insAACTTTTTTTTTTTTTTTTTTAT (n.1457-8_1457-7insAACTTTTTTTTTTTTTTTTTTAT)
c.2775-8_2775-7insAACTTTTTTTTTTTTTTTTTTAT (n.2775-8_2775-7insAACTTTTTTTTTTTTTTTTTTAT)
n.2972_2973insAACTTTTTTTTTTTTTTTTTTAT
n.2597-8_2597-7insAACTTTTTTTTTTTTTTTTTTAT
n.2264-8_2264-7insAACTTTTTTTTTTTTTTTTTTAT
n.2666-8_2666-7insAACTTTTTTTTTTTTTTTTTTAT
n.1411-8_1411-7insAACTTTTTTTTTTTTTTTTTTAT
n.3296-8_3296-7insAACTTTTTTTTTTTTTTTTTTAT
n.3976_3977insATAAAAAAAAAAAAAAAAAAGTT
n.4238_4239insATAAAAAAAAAAAAAAAAAAGTT
c.4002-8_4002-7insAACTTTTTTTTTTTTTTTTTTAT (n.4002-8_4002-7insAACTTTTTTTTTTTTTTTTTTAT)
c.3612-8_3612-7insAACTTTTTTTTTTTTTTTTTTAT (n.3612-8_3612-7insAACTTTTTTTTTTTTTTTTTTAT)
c.169+1423_169+1424insATAAAAAAAAAAAAAAAAAAGTT (n.169+1423_169+1424insATAAAAAAAAAAAAAAAAAAGTT)
c.*124+1222_*124+1223insATAAAAAAAAAAAAAAAAAAGTT (n.*124+1222_*124+1223insATAAAAAAAAAAAAAAAAAAGTT)
c.*3349-8_*3349-7insAACTTTTTTTTTTTTTTTTTTAT (n.*3349-8_*3349-7insAACTTTTTTTTTTTTTTTTTTAT)
n.3138_3139insATAAAAAAAAAAAAAAAAAAGTT
c.3096-8_3096-7insAACTTTTTTTTTTTTTTTTTTAT (n.3096-8_3096-7insAACTTTTTTTTTTTTTTTTTTAT)
c.903-8_903-7insAACTTTTTTTTTTTTTTTTTTAT (n.903-8_903-7insAACTTTTTTTTTTTTTTTTTTAT)
c.3819-8_3819-7insAACTTTTTTTTTTTTTTTTTTAT (n.3819-8_3819-7insAACTTTTTTTTTTTTTTTTTTAT)
c.4095-8_4095-7insAACTTTTTTTTTTTTTTTTTTAT (n.4095-8_4095-7insAACTTTTTTTTTTTTTTTTTTAT)
c.3912-8_3912-7insAACTTTTTTTTTTTTTTTTTTAT (n.3912-8_3912-7insAACTTTTTTTTTTTTTTTTTTAT)
c.3798-8_3798-7insAACTTTTTTTTTTTTTTTTTTAT (n.3798-8_3798-7insAACTTTTTTTTTTTTTTTTTTAT)
c.3189-8_3189-7insAACTTTTTTTTTTTTTTTTTTAT (n.3189-8_3189-7insAACTTTTTTTTTTTTTTTTTTAT)
gnomAD v3 gnomAD v4
2g.47806771_47806772insAACTTTTTTTTTTTTTTTTTTTTCA1030297785FBXO11,MSH6c.3705-8_3705-7insAACTTTTTTTTTTTTTTTTTTTT (n.3705-8_3705-7insAACTTTTTTTTTTTTTTTTTTTT)
c.3618-8_3618-7insAACTTTTTTTTTTTTTTTTTTTT (n.3618-8_3618-7insAACTTTTTTTTTTTTTTTTTTTT)
n.4676-8_4676-7insAACTTTTTTTTTTTTTTTTTTTT
c.2436-8_2436-7insAACTTTTTTTTTTTTTTTTTTTT (n.2436-8_2436-7insAACTTTTTTTTTTTTTTTTTTTT)
c.4008-8_4008-7insAACTTTTTTTTTTTTTTTTTTTT (n.4008-8_4008-7insAACTTTTTTTTTTTTTTTTTTTT)
c.1457-8_1457-7insAACTTTTTTTTTTTTTTTTTTTT (n.1457-8_1457-7insAACTTTTTTTTTTTTTTTTTTTT)
c.2775-8_2775-7insAACTTTTTTTTTTTTTTTTTTTT (n.2775-8_2775-7insAACTTTTTTTTTTTTTTTTTTTT)
n.2972_2973insAACTTTTTTTTTTTTTTTTTTTT
n.2597-8_2597-7insAACTTTTTTTTTTTTTTTTTTTT
n.2264-8_2264-7insAACTTTTTTTTTTTTTTTTTTTT
n.2666-8_2666-7insAACTTTTTTTTTTTTTTTTTTTT
n.1411-8_1411-7insAACTTTTTTTTTTTTTTTTTTTT
n.3296-8_3296-7insAACTTTTTTTTTTTTTTTTTTTT
n.3976_3977insAAAAAAAAAAAAAAAAAAAAGTT
n.4238_4239insAAAAAAAAAAAAAAAAAAAAGTT
c.4002-8_4002-7insAACTTTTTTTTTTTTTTTTTTTT (n.4002-8_4002-7insAACTTTTTTTTTTTTTTTTTTTT)
c.3612-8_3612-7insAACTTTTTTTTTTTTTTTTTTTT (n.3612-8_3612-7insAACTTTTTTTTTTTTTTTTTTTT)
c.169+1423_169+1424insAAAAAAAAAAAAAAAAAAAAGTT (n.169+1423_169+1424insAAAAAAAAAAAAAAAAAAAAGTT)
c.*124+1222_*124+1223insAAAAAAAAAAAAAAAAAAAAGTT (n.*124+1222_*124+1223insAAAAAAAAAAAAAAAAAAAAGTT)
c.*3349-8_*3349-7insAACTTTTTTTTTTTTTTTTTTTT (n.*3349-8_*3349-7insAACTTTTTTTTTTTTTTTTTTTT)
n.3138_3139insAAAAAAAAAAAAAAAAAAAAGTT
c.3096-8_3096-7insAACTTTTTTTTTTTTTTTTTTTT (n.3096-8_3096-7insAACTTTTTTTTTTTTTTTTTTTT)
c.903-8_903-7insAACTTTTTTTTTTTTTTTTTTTT (n.903-8_903-7insAACTTTTTTTTTTTTTTTTTTTT)
c.3819-8_3819-7insAACTTTTTTTTTTTTTTTTTTTT (n.3819-8_3819-7insAACTTTTTTTTTTTTTTTTTTTT)
c.4095-8_4095-7insAACTTTTTTTTTTTTTTTTTTTT (n.4095-8_4095-7insAACTTTTTTTTTTTTTTTTTTTT)
c.3912-8_3912-7insAACTTTTTTTTTTTTTTTTTTTT (n.3912-8_3912-7insAACTTTTTTTTTTTTTTTTTTTT)
c.3798-8_3798-7insAACTTTTTTTTTTTTTTTTTTTT (n.3798-8_3798-7insAACTTTTTTTTTTTTTTTTTTTT)
c.3189-8_3189-7insAACTTTTTTTTTTTTTTTTTTTT (n.3189-8_3189-7insAACTTTTTTTTTTTTTTTTTTTT)
gnomAD v3 gnomAD v4
2g.47806772T>ACA072763FBXO11,MSH6c.3705-7T>A (n.3705-7T>A)
c.3618-7T>A (n.3618-7T>A)
n.4676-7T>A
c.2436-7T>A (n.2436-7T>A)
c.4008-7T>A (n.4008-7T>A)
c.1457-7T>A (n.1457-7T>A)
c.2775-7T>A (n.2775-7T>A)
n.2973T>A
n.2597-7T>A
n.2264-7T>A
n.2666-7T>A
n.1411-7T>A
n.3296-7T>A
n.3976A>T
n.4238A>T
c.4002-7T>A (n.4002-7T>A)
c.3612-7T>A (n.3612-7T>A)
c.169+1423A>T (n.169+1423A>T)
c.*124+1222A>T (n.*124+1222A>T)
c.*3349-7T>A (n.*3349-7T>A)
n.3138A>T
c.3096-7T>A (n.3096-7T>A)
c.903-7T>A (n.903-7T>A)
c.3819-7T>A (n.3819-7T>A)
c.4095-7T>A (n.4095-7T>A)
c.3912-7T>A (n.3912-7T>A)
c.3798-7T>A (n.3798-7T>A)
c.3189-7T>A (n.3189-7T>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.47806772T=CA2496054519FBXO11,MSH6c.3705-7T= (n.3705-7T=)
c.3618-7T= (n.3618-7T=)
n.4676-7T=
c.2436-7T= (n.2436-7T=)
c.4008-7T= (n.4008-7T=)
c.1457-7T= (n.1457-7T=)
c.2775-7T= (n.2775-7T=)
n.2973T=
n.2597-7T=
n.2264-7T=
n.2666-7T=
n.1411-7T=
n.3296-7T=
n.3976A=
n.4238A=
c.4002-7T= (n.4002-7T=)
c.3612-7T= (n.3612-7T=)
c.169+1423A= (n.169+1423A=)
c.*124+1222A= (n.*124+1222A=)
c.*3349-7T= (n.*3349-7T=)
n.3138A=
c.3096-7T= (n.3096-7T=)
c.903-7T= (n.903-7T=)
c.3819-7T= (n.3819-7T=)
c.4095-7T= (n.4095-7T=)
c.3912-7T= (n.3912-7T=)
c.3798-7T= (n.3798-7T=)
c.3189-7T= (n.3189-7T=)
2g.47806775_47806776insTTTTTCA1030297850FBXO11,MSH6c.3705-4_3705-3insTTTTT (n.3705-4_3705-3insTTTTT)
c.3618-4_3618-3insTTTTT (n.3618-4_3618-3insTTTTT)
n.4676-4_4676-3insTTTTT
c.2436-4_2436-3insTTTTT (n.2436-4_2436-3insTTTTT)
c.4008-4_4008-3insTTTTT (n.4008-4_4008-3insTTTTT)
c.1457-4_1457-3insTTTTT (n.1457-4_1457-3insTTTTT)
c.2775-4_2775-3insTTTTT (n.2775-4_2775-3insTTTTT)
n.2976_2977insTTTTT
n.2597-4_2597-3insTTTTT
n.2264-4_2264-3insTTTTT
n.2666-4_2666-3insTTTTT
n.1411-4_1411-3insTTTTT
n.3296-4_3296-3insTTTTT
n.3976_3977insAAAAA
n.4238_4239insAAAAA
c.4002-4_4002-3insTTTTT (n.4002-4_4002-3insTTTTT)
c.3612-4_3612-3insTTTTT (n.3612-4_3612-3insTTTTT)
c.169+1423_169+1424insAAAAA (n.169+1423_169+1424insAAAAA)
c.*124+1222_*124+1223insAAAAA (n.*124+1222_*124+1223insAAAAA)
c.*3349-4_*3349-3insTTTTT (n.*3349-4_*3349-3insTTTTT)
n.3138_3139insAAAAA
c.3096-4_3096-3insTTTTT (n.3096-4_3096-3insTTTTT)
c.903-4_903-3insTTTTT (n.903-4_903-3insTTTTT)
c.3819-4_3819-3insTTTTT (n.3819-4_3819-3insTTTTT)
c.4095-4_4095-3insTTTTT (n.4095-4_4095-3insTTTTT)
c.3912-4_3912-3insTTTTT (n.3912-4_3912-3insTTTTT)
c.3798-4_3798-3insTTTTT (n.3798-4_3798-3insTTTTT)
c.3189-4_3189-3insTTTTT (n.3189-4_3189-3insTTTTT)
gnomAD v3 gnomAD v4
2g.47806775_47806776insTTTTTTTCA1030297849FBXO11,MSH6c.3705-4_3705-3insTTTTTTT (n.3705-4_3705-3insTTTTTTT)
c.3618-4_3618-3insTTTTTTT (n.3618-4_3618-3insTTTTTTT)
n.4676-4_4676-3insTTTTTTT
c.2436-4_2436-3insTTTTTTT (n.2436-4_2436-3insTTTTTTT)
c.4008-4_4008-3insTTTTTTT (n.4008-4_4008-3insTTTTTTT)
c.1457-4_1457-3insTTTTTTT (n.1457-4_1457-3insTTTTTTT)
c.2775-4_2775-3insTTTTTTT (n.2775-4_2775-3insTTTTTTT)
n.2976_2977insTTTTTTT
n.2597-4_2597-3insTTTTTTT
n.2264-4_2264-3insTTTTTTT
n.2666-4_2666-3insTTTTTTT
n.1411-4_1411-3insTTTTTTT
n.3296-4_3296-3insTTTTTTT
n.3976_3977insAAAAAAA
n.4238_4239insAAAAAAA
c.4002-4_4002-3insTTTTTTT (n.4002-4_4002-3insTTTTTTT)
c.3612-4_3612-3insTTTTTTT (n.3612-4_3612-3insTTTTTTT)
c.169+1423_169+1424insAAAAAAA (n.169+1423_169+1424insAAAAAAA)
c.*124+1222_*124+1223insAAAAAAA (n.*124+1222_*124+1223insAAAAAAA)
c.*3349-4_*3349-3insTTTTTTT (n.*3349-4_*3349-3insTTTTTTT)
n.3138_3139insAAAAAAA
c.3096-4_3096-3insTTTTTTT (n.3096-4_3096-3insTTTTTTT)
c.903-4_903-3insTTTTTTT (n.903-4_903-3insTTTTTTT)
c.3819-4_3819-3insTTTTTTT (n.3819-4_3819-3insTTTTTTT)
c.4095-4_4095-3insTTTTTTT (n.4095-4_4095-3insTTTTTTT)
c.3912-4_3912-3insTTTTTTT (n.3912-4_3912-3insTTTTTTT)
c.3798-4_3798-3insTTTTTTT (n.3798-4_3798-3insTTTTTTT)
c.3189-4_3189-3insTTTTTTT (n.3189-4_3189-3insTTTTTTT)
gnomAD v3 gnomAD v4
2g.47806775_47806776insTTTTTTTTCA532705581FBXO11,MSH6c.3705-4_3705-3insTTTTTTTT (n.3705-4_3705-3insTTTTTTTT)
c.3618-4_3618-3insTTTTTTTT (n.3618-4_3618-3insTTTTTTTT)
n.4676-4_4676-3insTTTTTTTT
c.2436-4_2436-3insTTTTTTTT (n.2436-4_2436-3insTTTTTTTT)
c.4008-4_4008-3insTTTTTTTT (n.4008-4_4008-3insTTTTTTTT)
c.1457-4_1457-3insTTTTTTTT (n.1457-4_1457-3insTTTTTTTT)
c.2775-4_2775-3insTTTTTTTT (n.2775-4_2775-3insTTTTTTTT)
n.2976_2977insTTTTTTTT
n.2597-4_2597-3insTTTTTTTT
n.2264-4_2264-3insTTTTTTTT
n.2666-4_2666-3insTTTTTTTT
n.1411-4_1411-3insTTTTTTTT
n.3296-4_3296-3insTTTTTTTT
n.3976_3977insAAAAAAAA
n.4238_4239insAAAAAAAA
c.4002-4_4002-3insTTTTTTTT (n.4002-4_4002-3insTTTTTTTT)
c.3612-4_3612-3insTTTTTTTT (n.3612-4_3612-3insTTTTTTTT)
c.169+1423_169+1424insAAAAAAAA (n.169+1423_169+1424insAAAAAAAA)
c.*124+1222_*124+1223insAAAAAAAA (n.*124+1222_*124+1223insAAAAAAAA)
c.*3349-4_*3349-3insTTTTTTTT (n.*3349-4_*3349-3insTTTTTTTT)
n.3138_3139insAAAAAAAA
c.3096-4_3096-3insTTTTTTTT (n.3096-4_3096-3insTTTTTTTT)
c.903-4_903-3insTTTTTTTT (n.903-4_903-3insTTTTTTTT)
c.3819-4_3819-3insTTTTTTTT (n.3819-4_3819-3insTTTTTTTT)
c.4095-4_4095-3insTTTTTTTT (n.4095-4_4095-3insTTTTTTTT)
c.3912-4_3912-3insTTTTTTTT (n.3912-4_3912-3insTTTTTTTT)
c.3798-4_3798-3insTTTTTTTT (n.3798-4_3798-3insTTTTTTTT)
c.3189-4_3189-3insTTTTTTTT (n.3189-4_3189-3insTTTTTTTT)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.47806775_47806776insTTTTTTTTTCA1030297823FBXO11,MSH6c.3705-4_3705-3insTTTTTTTTT (n.3705-4_3705-3insTTTTTTTTT)
c.3618-4_3618-3insTTTTTTTTT (n.3618-4_3618-3insTTTTTTTTT)
n.4676-4_4676-3insTTTTTTTTT
c.2436-4_2436-3insTTTTTTTTT (n.2436-4_2436-3insTTTTTTTTT)
c.4008-4_4008-3insTTTTTTTTT (n.4008-4_4008-3insTTTTTTTTT)
c.1457-4_1457-3insTTTTTTTTT (n.1457-4_1457-3insTTTTTTTTT)
c.2775-4_2775-3insTTTTTTTTT (n.2775-4_2775-3insTTTTTTTTT)
n.2976_2977insTTTTTTTTT
n.2597-4_2597-3insTTTTTTTTT
n.2264-4_2264-3insTTTTTTTTT
n.2666-4_2666-3insTTTTTTTTT
n.1411-4_1411-3insTTTTTTTTT
n.3296-4_3296-3insTTTTTTTTT
n.3976_3977insAAAAAAAAA
n.4238_4239insAAAAAAAAA
c.4002-4_4002-3insTTTTTTTTT (n.4002-4_4002-3insTTTTTTTTT)
c.3612-4_3612-3insTTTTTTTTT (n.3612-4_3612-3insTTTTTTTTT)
c.169+1423_169+1424insAAAAAAAAA (n.169+1423_169+1424insAAAAAAAAA)
c.*124+1222_*124+1223insAAAAAAAAA (n.*124+1222_*124+1223insAAAAAAAAA)
c.*3349-4_*3349-3insTTTTTTTTT (n.*3349-4_*3349-3insTTTTTTTTT)
n.3138_3139insAAAAAAAAA
c.3096-4_3096-3insTTTTTTTTT (n.3096-4_3096-3insTTTTTTTTT)
c.903-4_903-3insTTTTTTTTT (n.903-4_903-3insTTTTTTTTT)
c.3819-4_3819-3insTTTTTTTTT (n.3819-4_3819-3insTTTTTTTTT)
c.4095-4_4095-3insTTTTTTTTT (n.4095-4_4095-3insTTTTTTTTT)
c.3912-4_3912-3insTTTTTTTTT (n.3912-4_3912-3insTTTTTTTTT)
c.3798-4_3798-3insTTTTTTTTT (n.3798-4_3798-3insTTTTTTTTT)
c.3189-4_3189-3insTTTTTTTTT (n.3189-4_3189-3insTTTTTTTTT)
gnomAD v3 gnomAD v4
2g.47806775_47806776insTTTTTTTTTTCA1030297820FBXO11,MSH6c.3705-4_3705-3insTTTTTTTTTT (n.3705-4_3705-3insTTTTTTTTTT)
c.3618-4_3618-3insTTTTTTTTTT (n.3618-4_3618-3insTTTTTTTTTT)
n.4676-4_4676-3insTTTTTTTTTT
c.2436-4_2436-3insTTTTTTTTTT (n.2436-4_2436-3insTTTTTTTTTT)
c.4008-4_4008-3insTTTTTTTTTT (n.4008-4_4008-3insTTTTTTTTTT)
c.1457-4_1457-3insTTTTTTTTTT (n.1457-4_1457-3insTTTTTTTTTT)
c.2775-4_2775-3insTTTTTTTTTT (n.2775-4_2775-3insTTTTTTTTTT)
n.2976_2977insTTTTTTTTTT
n.2597-4_2597-3insTTTTTTTTTT
n.2264-4_2264-3insTTTTTTTTTT
n.2666-4_2666-3insTTTTTTTTTT
n.1411-4_1411-3insTTTTTTTTTT
n.3296-4_3296-3insTTTTTTTTTT
n.3976_3977insAAAAAAAAAA
n.4238_4239insAAAAAAAAAA
c.4002-4_4002-3insTTTTTTTTTT (n.4002-4_4002-3insTTTTTTTTTT)
c.3612-4_3612-3insTTTTTTTTTT (n.3612-4_3612-3insTTTTTTTTTT)
c.169+1423_169+1424insAAAAAAAAAA (n.169+1423_169+1424insAAAAAAAAAA)
c.*124+1222_*124+1223insAAAAAAAAAA (n.*124+1222_*124+1223insAAAAAAAAAA)
c.*3349-4_*3349-3insTTTTTTTTTT (n.*3349-4_*3349-3insTTTTTTTTTT)
n.3138_3139insAAAAAAAAAA
c.3096-4_3096-3insTTTTTTTTTT (n.3096-4_3096-3insTTTTTTTTTT)
c.903-4_903-3insTTTTTTTTTT (n.903-4_903-3insTTTTTTTTTT)
c.3819-4_3819-3insTTTTTTTTTT (n.3819-4_3819-3insTTTTTTTTTT)
c.4095-4_4095-3insTTTTTTTTTT (n.4095-4_4095-3insTTTTTTTTTT)
c.3912-4_3912-3insTTTTTTTTTT (n.3912-4_3912-3insTTTTTTTTTT)
c.3798-4_3798-3insTTTTTTTTTT (n.3798-4_3798-3insTTTTTTTTTT)
c.3189-4_3189-3insTTTTTTTTTT (n.3189-4_3189-3insTTTTTTTTTT)
gnomAD v3 gnomAD v4
2g.47806775_47806776insTTTTTTTTTTTCA2749812351FBXO11,MSH6c.3705-4_3705-3insTTTTTTTTTTT (n.3705-4_3705-3insTTTTTTTTTTT)
c.3618-4_3618-3insTTTTTTTTTTT (n.3618-4_3618-3insTTTTTTTTTTT)
n.4676-4_4676-3insTTTTTTTTTTT
c.2436-4_2436-3insTTTTTTTTTTT (n.2436-4_2436-3insTTTTTTTTTTT)
c.4008-4_4008-3insTTTTTTTTTTT (n.4008-4_4008-3insTTTTTTTTTTT)
c.1457-4_1457-3insTTTTTTTTTTT (n.1457-4_1457-3insTTTTTTTTTTT)
c.2775-4_2775-3insTTTTTTTTTTT (n.2775-4_2775-3insTTTTTTTTTTT)
n.2976_2977insTTTTTTTTTTT
n.2597-4_2597-3insTTTTTTTTTTT
n.2264-4_2264-3insTTTTTTTTTTT
n.2666-4_2666-3insTTTTTTTTTTT
n.1411-4_1411-3insTTTTTTTTTTT
n.3296-4_3296-3insTTTTTTTTTTT
n.3976_3977insAAAAAAAAAAA
n.4238_4239insAAAAAAAAAAA
c.4002-4_4002-3insTTTTTTTTTTT (n.4002-4_4002-3insTTTTTTTTTTT)
c.3612-4_3612-3insTTTTTTTTTTT (n.3612-4_3612-3insTTTTTTTTTTT)
c.169+1423_169+1424insAAAAAAAAAAA (n.169+1423_169+1424insAAAAAAAAAAA)
c.*124+1222_*124+1223insAAAAAAAAAAA (n.*124+1222_*124+1223insAAAAAAAAAAA)
c.*3349-4_*3349-3insTTTTTTTTTTT (n.*3349-4_*3349-3insTTTTTTTTTTT)
n.3138_3139insAAAAAAAAAAA
c.3096-4_3096-3insTTTTTTTTTTT (n.3096-4_3096-3insTTTTTTTTTTT)
c.903-4_903-3insTTTTTTTTTTT (n.903-4_903-3insTTTTTTTTTTT)
c.3819-4_3819-3insTTTTTTTTTTT (n.3819-4_3819-3insTTTTTTTTTTT)
c.4095-4_4095-3insTTTTTTTTTTT (n.4095-4_4095-3insTTTTTTTTTTT)
c.3912-4_3912-3insTTTTTTTTTTT (n.3912-4_3912-3insTTTTTTTTTTT)
c.3798-4_3798-3insTTTTTTTTTTT (n.3798-4_3798-3insTTTTTTTTTTT)
c.3189-4_3189-3insTTTTTTTTTTT (n.3189-4_3189-3insTTTTTTTTTTT)
2g.47806775_47806776insTTTTTTTTTTTTCA1030297816FBXO11,MSH6c.3705-4_3705-3insTTTTTTTTTTTT (n.3705-4_3705-3insTTTTTTTTTTTT)
c.3618-4_3618-3insTTTTTTTTTTTT (n.3618-4_3618-3insTTTTTTTTTTTT)
n.4676-4_4676-3insTTTTTTTTTTTT
c.2436-4_2436-3insTTTTTTTTTTTT (n.2436-4_2436-3insTTTTTTTTTTTT)
c.4008-4_4008-3insTTTTTTTTTTTT (n.4008-4_4008-3insTTTTTTTTTTTT)
c.1457-4_1457-3insTTTTTTTTTTTT (n.1457-4_1457-3insTTTTTTTTTTTT)
c.2775-4_2775-3insTTTTTTTTTTTT (n.2775-4_2775-3insTTTTTTTTTTTT)
n.2976_2977insTTTTTTTTTTTT
n.2597-4_2597-3insTTTTTTTTTTTT
n.2264-4_2264-3insTTTTTTTTTTTT
n.2666-4_2666-3insTTTTTTTTTTTT
n.1411-4_1411-3insTTTTTTTTTTTT
n.3296-4_3296-3insTTTTTTTTTTTT
n.3976_3977insAAAAAAAAAAAA
n.4238_4239insAAAAAAAAAAAA
c.4002-4_4002-3insTTTTTTTTTTTT (n.4002-4_4002-3insTTTTTTTTTTTT)
c.3612-4_3612-3insTTTTTTTTTTTT (n.3612-4_3612-3insTTTTTTTTTTTT)
c.169+1423_169+1424insAAAAAAAAAAAA (n.169+1423_169+1424insAAAAAAAAAAAA)
c.*124+1222_*124+1223insAAAAAAAAAAAA (n.*124+1222_*124+1223insAAAAAAAAAAAA)
c.*3349-4_*3349-3insTTTTTTTTTTTT (n.*3349-4_*3349-3insTTTTTTTTTTTT)
n.3138_3139insAAAAAAAAAAAA
c.3096-4_3096-3insTTTTTTTTTTTT (n.3096-4_3096-3insTTTTTTTTTTTT)
c.903-4_903-3insTTTTTTTTTTTT (n.903-4_903-3insTTTTTTTTTTTT)
c.3819-4_3819-3insTTTTTTTTTTTT (n.3819-4_3819-3insTTTTTTTTTTTT)
c.4095-4_4095-3insTTTTTTTTTTTT (n.4095-4_4095-3insTTTTTTTTTTTT)
c.3912-4_3912-3insTTTTTTTTTTTT (n.3912-4_3912-3insTTTTTTTTTTTT)
c.3798-4_3798-3insTTTTTTTTTTTT (n.3798-4_3798-3insTTTTTTTTTTTT)
c.3189-4_3189-3insTTTTTTTTTTTT (n.3189-4_3189-3insTTTTTTTTTTTT)
gnomAD v3 gnomAD v4
2g.47806775_47806776insTTTTTTTTTTTTTCA532705582FBXO11,MSH6c.3705-4_3705-3insTTTTTTTTTTTTT (n.3705-4_3705-3insTTTTTTTTTTTTT)
c.3618-4_3618-3insTTTTTTTTTTTTT (n.3618-4_3618-3insTTTTTTTTTTTTT)
n.4676-4_4676-3insTTTTTTTTTTTTT
c.2436-4_2436-3insTTTTTTTTTTTTT (n.2436-4_2436-3insTTTTTTTTTTTTT)
c.4008-4_4008-3insTTTTTTTTTTTTT (n.4008-4_4008-3insTTTTTTTTTTTTT)
c.1457-4_1457-3insTTTTTTTTTTTTT (n.1457-4_1457-3insTTTTTTTTTTTTT)
c.2775-4_2775-3insTTTTTTTTTTTTT (n.2775-4_2775-3insTTTTTTTTTTTTT)
n.2976_2977insTTTTTTTTTTTTT
n.2597-4_2597-3insTTTTTTTTTTTTT
n.2264-4_2264-3insTTTTTTTTTTTTT
n.2666-4_2666-3insTTTTTTTTTTTTT
n.1411-4_1411-3insTTTTTTTTTTTTT
n.3296-4_3296-3insTTTTTTTTTTTTT
n.3976_3977insAAAAAAAAAAAAA
n.4238_4239insAAAAAAAAAAAAA
c.4002-4_4002-3insTTTTTTTTTTTTT (n.4002-4_4002-3insTTTTTTTTTTTTT)
c.3612-4_3612-3insTTTTTTTTTTTTT (n.3612-4_3612-3insTTTTTTTTTTTTT)
c.169+1423_169+1424insAAAAAAAAAAAAA (n.169+1423_169+1424insAAAAAAAAAAAAA)
c.*124+1222_*124+1223insAAAAAAAAAAAAA (n.*124+1222_*124+1223insAAAAAAAAAAAAA)
c.*3349-4_*3349-3insTTTTTTTTTTTTT (n.*3349-4_*3349-3insTTTTTTTTTTTTT)
n.3138_3139insAAAAAAAAAAAAA
c.3096-4_3096-3insTTTTTTTTTTTTT (n.3096-4_3096-3insTTTTTTTTTTTTT)
c.903-4_903-3insTTTTTTTTTTTTT (n.903-4_903-3insTTTTTTTTTTTTT)
c.3819-4_3819-3insTTTTTTTTTTTTT (n.3819-4_3819-3insTTTTTTTTTTTTT)
c.4095-4_4095-3insTTTTTTTTTTTTT (n.4095-4_4095-3insTTTTTTTTTTTTT)
c.3912-4_3912-3insTTTTTTTTTTTTT (n.3912-4_3912-3insTTTTTTTTTTTTT)
c.3798-4_3798-3insTTTTTTTTTTTTT (n.3798-4_3798-3insTTTTTTTTTTTTT)
c.3189-4_3189-3insTTTTTTTTTTTTT (n.3189-4_3189-3insTTTTTTTTTTTTT)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.47806775_47806776insTTTTTTTTTTTTTTCA1030297865FBXO11,MSH6c.3705-4_3705-3insTTTTTTTTTTTTTT (n.3705-4_3705-3insTTTTTTTTTTTTTT)
c.3618-4_3618-3insTTTTTTTTTTTTTT (n.3618-4_3618-3insTTTTTTTTTTTTTT)
n.4676-4_4676-3insTTTTTTTTTTTTTT
c.2436-4_2436-3insTTTTTTTTTTTTTT (n.2436-4_2436-3insTTTTTTTTTTTTTT)
c.4008-4_4008-3insTTTTTTTTTTTTTT (n.4008-4_4008-3insTTTTTTTTTTTTTT)
c.1457-4_1457-3insTTTTTTTTTTTTTT (n.1457-4_1457-3insTTTTTTTTTTTTTT)
c.2775-4_2775-3insTTTTTTTTTTTTTT (n.2775-4_2775-3insTTTTTTTTTTTTTT)
n.2976_2977insTTTTTTTTTTTTTT
n.2597-4_2597-3insTTTTTTTTTTTTTT
n.2264-4_2264-3insTTTTTTTTTTTTTT
n.2666-4_2666-3insTTTTTTTTTTTTTT
n.1411-4_1411-3insTTTTTTTTTTTTTT
n.3296-4_3296-3insTTTTTTTTTTTTTT
n.3976_3977insAAAAAAAAAAAAAA
n.4238_4239insAAAAAAAAAAAAAA
c.4002-4_4002-3insTTTTTTTTTTTTTT (n.4002-4_4002-3insTTTTTTTTTTTTTT)
c.3612-4_3612-3insTTTTTTTTTTTTTT (n.3612-4_3612-3insTTTTTTTTTTTTTT)
c.169+1423_169+1424insAAAAAAAAAAAAAA (n.169+1423_169+1424insAAAAAAAAAAAAAA)
c.*124+1222_*124+1223insAAAAAAAAAAAAAA (n.*124+1222_*124+1223insAAAAAAAAAAAAAA)
c.*3349-4_*3349-3insTTTTTTTTTTTTTT (n.*3349-4_*3349-3insTTTTTTTTTTTTTT)
n.3138_3139insAAAAAAAAAAAAAA
c.3096-4_3096-3insTTTTTTTTTTTTTT (n.3096-4_3096-3insTTTTTTTTTTTTTT)
c.903-4_903-3insTTTTTTTTTTTTTT (n.903-4_903-3insTTTTTTTTTTTTTT)
c.3819-4_3819-3insTTTTTTTTTTTTTT (n.3819-4_3819-3insTTTTTTTTTTTTTT)
c.4095-4_4095-3insTTTTTTTTTTTTTT (n.4095-4_4095-3insTTTTTTTTTTTTTT)
c.3912-4_3912-3insTTTTTTTTTTTTTT (n.3912-4_3912-3insTTTTTTTTTTTTTT)
c.3798-4_3798-3insTTTTTTTTTTTTTT (n.3798-4_3798-3insTTTTTTTTTTTTTT)
c.3189-4_3189-3insTTTTTTTTTTTTTT (n.3189-4_3189-3insTTTTTTTTTTTTTT)
dbSNP gnomAD v3 gnomAD v4
2g.47806775_47806776insTTTTTTTTTTTTTTTCA916529849FBXO11,MSH6c.3705-4_3705-3insTTTTTTTTTTTTTTT (n.3705-4_3705-3insTTTTTTTTTTTTTTT)
c.3618-4_3618-3insTTTTTTTTTTTTTTT (n.3618-4_3618-3insTTTTTTTTTTTTTTT)
n.4676-4_4676-3insTTTTTTTTTTTTTTT
c.2436-4_2436-3insTTTTTTTTTTTTTTT (n.2436-4_2436-3insTTTTTTTTTTTTTTT)
c.4008-4_4008-3insTTTTTTTTTTTTTTT (n.4008-4_4008-3insTTTTTTTTTTTTTTT)
c.1457-4_1457-3insTTTTTTTTTTTTTTT (n.1457-4_1457-3insTTTTTTTTTTTTTTT)
c.2775-4_2775-3insTTTTTTTTTTTTTTT (n.2775-4_2775-3insTTTTTTTTTTTTTTT)
n.2976_2977insTTTTTTTTTTTTTTT
n.2597-4_2597-3insTTTTTTTTTTTTTTT
n.2264-4_2264-3insTTTTTTTTTTTTTTT
n.2666-4_2666-3insTTTTTTTTTTTTTTT
n.1411-4_1411-3insTTTTTTTTTTTTTTT
n.3296-4_3296-3insTTTTTTTTTTTTTTT
n.3976_3977insAAAAAAAAAAAAAAA
n.4238_4239insAAAAAAAAAAAAAAA
c.4002-4_4002-3insTTTTTTTTTTTTTTT (n.4002-4_4002-3insTTTTTTTTTTTTTTT)
c.3612-4_3612-3insTTTTTTTTTTTTTTT (n.3612-4_3612-3insTTTTTTTTTTTTTTT)
c.169+1423_169+1424insAAAAAAAAAAAAAAA (n.169+1423_169+1424insAAAAAAAAAAAAAAA)
c.*124+1222_*124+1223insAAAAAAAAAAAAAAA (n.*124+1222_*124+1223insAAAAAAAAAAAAAAA)
c.*3349-4_*3349-3insTTTTTTTTTTTTTTT (n.*3349-4_*3349-3insTTTTTTTTTTTTTTT)
n.3138_3139insAAAAAAAAAAAAAAA
c.3096-4_3096-3insTTTTTTTTTTTTTTT (n.3096-4_3096-3insTTTTTTTTTTTTTTT)
c.903-4_903-3insTTTTTTTTTTTTTTT (n.903-4_903-3insTTTTTTTTTTTTTTT)
c.3819-4_3819-3insTTTTTTTTTTTTTTT (n.3819-4_3819-3insTTTTTTTTTTTTTTT)
c.4095-4_4095-3insTTTTTTTTTTTTTTT (n.4095-4_4095-3insTTTTTTTTTTTTTTT)
c.3912-4_3912-3insTTTTTTTTTTTTTTT (n.3912-4_3912-3insTTTTTTTTTTTTTTT)
c.3798-4_3798-3insTTTTTTTTTTTTTTT (n.3798-4_3798-3insTTTTTTTTTTTTTTT)
c.3189-4_3189-3insTTTTTTTTTTTTTTT (n.3189-4_3189-3insTTTTTTTTTTTTTTT)
dbSNP gnomAD v3 gnomAD v4
2g.47806775_47806776insTTTTTTTTTTTTTTTTCA1030297810FBXO11,MSH6c.3705-4_3705-3insTTTTTTTTTTTTTTTT (n.3705-4_3705-3insTTTTTTTTTTTTTTTT)
c.3618-4_3618-3insTTTTTTTTTTTTTTTT (n.3618-4_3618-3insTTTTTTTTTTTTTTTT)
n.4676-4_4676-3insTTTTTTTTTTTTTTTT
c.2436-4_2436-3insTTTTTTTTTTTTTTTT (n.2436-4_2436-3insTTTTTTTTTTTTTTTT)
c.4008-4_4008-3insTTTTTTTTTTTTTTTT (n.4008-4_4008-3insTTTTTTTTTTTTTTTT)
c.1457-4_1457-3insTTTTTTTTTTTTTTTT (n.1457-4_1457-3insTTTTTTTTTTTTTTTT)
c.2775-4_2775-3insTTTTTTTTTTTTTTTT (n.2775-4_2775-3insTTTTTTTTTTTTTTTT)
n.2976_2977insTTTTTTTTTTTTTTTT
n.2597-4_2597-3insTTTTTTTTTTTTTTTT
n.2264-4_2264-3insTTTTTTTTTTTTTTTT
n.2666-4_2666-3insTTTTTTTTTTTTTTTT
n.1411-4_1411-3insTTTTTTTTTTTTTTTT
n.3296-4_3296-3insTTTTTTTTTTTTTTTT
n.3976_3977insAAAAAAAAAAAAAAAA
n.4238_4239insAAAAAAAAAAAAAAAA
c.4002-4_4002-3insTTTTTTTTTTTTTTTT (n.4002-4_4002-3insTTTTTTTTTTTTTTTT)
c.3612-4_3612-3insTTTTTTTTTTTTTTTT (n.3612-4_3612-3insTTTTTTTTTTTTTTTT)
c.169+1423_169+1424insAAAAAAAAAAAAAAAA (n.169+1423_169+1424insAAAAAAAAAAAAAAAA)
c.*124+1222_*124+1223insAAAAAAAAAAAAAAAA (n.*124+1222_*124+1223insAAAAAAAAAAAAAAAA)
c.*3349-4_*3349-3insTTTTTTTTTTTTTTTT (n.*3349-4_*3349-3insTTTTTTTTTTTTTTTT)
n.3138_3139insAAAAAAAAAAAAAAAA
c.3096-4_3096-3insTTTTTTTTTTTTTTTT (n.3096-4_3096-3insTTTTTTTTTTTTTTTT)
c.903-4_903-3insTTTTTTTTTTTTTTTT (n.903-4_903-3insTTTTTTTTTTTTTTTT)
c.3819-4_3819-3insTTTTTTTTTTTTTTTT (n.3819-4_3819-3insTTTTTTTTTTTTTTTT)
c.4095-4_4095-3insTTTTTTTTTTTTTTTT (n.4095-4_4095-3insTTTTTTTTTTTTTTTT)
c.3912-4_3912-3insTTTTTTTTTTTTTTTT (n.3912-4_3912-3insTTTTTTTTTTTTTTTT)
c.3798-4_3798-3insTTTTTTTTTTTTTTTT (n.3798-4_3798-3insTTTTTTTTTTTTTTTT)
c.3189-4_3189-3insTTTTTTTTTTTTTTTT (n.3189-4_3189-3insTTTTTTTTTTTTTTTT)
gnomAD v3 gnomAD v4
2g.47806775_47806776insTTTTTTTTTTTTTTTTTCA532705583FBXO11,MSH6c.3705-4_3705-3insTTTTTTTTTTTTTTTTT (n.3705-4_3705-3insTTTTTTTTTTTTTTTTT)
c.3618-4_3618-3insTTTTTTTTTTTTTTTTT (n.3618-4_3618-3insTTTTTTTTTTTTTTTTT)
n.4676-4_4676-3insTTTTTTTTTTTTTTTTT
c.2436-4_2436-3insTTTTTTTTTTTTTTTTT (n.2436-4_2436-3insTTTTTTTTTTTTTTTTT)
c.4008-4_4008-3insTTTTTTTTTTTTTTTTT (n.4008-4_4008-3insTTTTTTTTTTTTTTTTT)
c.1457-4_1457-3insTTTTTTTTTTTTTTTTT (n.1457-4_1457-3insTTTTTTTTTTTTTTTTT)
c.2775-4_2775-3insTTTTTTTTTTTTTTTTT (n.2775-4_2775-3insTTTTTTTTTTTTTTTTT)
n.2976_2977insTTTTTTTTTTTTTTTTT
n.2597-4_2597-3insTTTTTTTTTTTTTTTTT
n.2264-4_2264-3insTTTTTTTTTTTTTTTTT
n.2666-4_2666-3insTTTTTTTTTTTTTTTTT
n.1411-4_1411-3insTTTTTTTTTTTTTTTTT
n.3296-4_3296-3insTTTTTTTTTTTTTTTTT
n.3976_3977insAAAAAAAAAAAAAAAAA
n.4238_4239insAAAAAAAAAAAAAAAAA
c.4002-4_4002-3insTTTTTTTTTTTTTTTTT (n.4002-4_4002-3insTTTTTTTTTTTTTTTTT)
c.3612-4_3612-3insTTTTTTTTTTTTTTTTT (n.3612-4_3612-3insTTTTTTTTTTTTTTTTT)
c.169+1423_169+1424insAAAAAAAAAAAAAAAAA (n.169+1423_169+1424insAAAAAAAAAAAAAAAAA)
c.*124+1222_*124+1223insAAAAAAAAAAAAAAAAA (n.*124+1222_*124+1223insAAAAAAAAAAAAAAAAA)
c.*3349-4_*3349-3insTTTTTTTTTTTTTTTTT (n.*3349-4_*3349-3insTTTTTTTTTTTTTTTTT)
n.3138_3139insAAAAAAAAAAAAAAAAA
c.3096-4_3096-3insTTTTTTTTTTTTTTTTT (n.3096-4_3096-3insTTTTTTTTTTTTTTTTT)
c.903-4_903-3insTTTTTTTTTTTTTTTTT (n.903-4_903-3insTTTTTTTTTTTTTTTTT)
c.3819-4_3819-3insTTTTTTTTTTTTTTTTT (n.3819-4_3819-3insTTTTTTTTTTTTTTTTT)
c.4095-4_4095-3insTTTTTTTTTTTTTTTTT (n.4095-4_4095-3insTTTTTTTTTTTTTTTTT)
c.3912-4_3912-3insTTTTTTTTTTTTTTTTT (n.3912-4_3912-3insTTTTTTTTTTTTTTTTT)
c.3798-4_3798-3insTTTTTTTTTTTTTTTTT (n.3798-4_3798-3insTTTTTTTTTTTTTTTTT)
c.3189-4_3189-3insTTTTTTTTTTTTTTTTT (n.3189-4_3189-3insTTTTTTTTTTTTTTTTT)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.47806775_47806776insTTTTTTTTTTTTTTTTTTCA1030297809FBXO11,MSH6c.3705-4_3705-3insTTTTTTTTTTTTTTTTTT (n.3705-4_3705-3insTTTTTTTTTTTTTTTTTT)
c.3618-4_3618-3insTTTTTTTTTTTTTTTTTT (n.3618-4_3618-3insTTTTTTTTTTTTTTTTTT)
n.4676-4_4676-3insTTTTTTTTTTTTTTTTTT
c.2436-4_2436-3insTTTTTTTTTTTTTTTTTT (n.2436-4_2436-3insTTTTTTTTTTTTTTTTTT)
c.4008-4_4008-3insTTTTTTTTTTTTTTTTTT (n.4008-4_4008-3insTTTTTTTTTTTTTTTTTT)
c.1457-4_1457-3insTTTTTTTTTTTTTTTTTT (n.1457-4_1457-3insTTTTTTTTTTTTTTTTTT)
c.2775-4_2775-3insTTTTTTTTTTTTTTTTTT (n.2775-4_2775-3insTTTTTTTTTTTTTTTTTT)
n.2976_2977insTTTTTTTTTTTTTTTTTT
n.2597-4_2597-3insTTTTTTTTTTTTTTTTTT
n.2264-4_2264-3insTTTTTTTTTTTTTTTTTT
n.2666-4_2666-3insTTTTTTTTTTTTTTTTTT
n.1411-4_1411-3insTTTTTTTTTTTTTTTTTT
n.3296-4_3296-3insTTTTTTTTTTTTTTTTTT
n.3976_3977insAAAAAAAAAAAAAAAAAA
n.4238_4239insAAAAAAAAAAAAAAAAAA
c.4002-4_4002-3insTTTTTTTTTTTTTTTTTT (n.4002-4_4002-3insTTTTTTTTTTTTTTTTTT)
c.3612-4_3612-3insTTTTTTTTTTTTTTTTTT (n.3612-4_3612-3insTTTTTTTTTTTTTTTTTT)
c.169+1423_169+1424insAAAAAAAAAAAAAAAAAA (n.169+1423_169+1424insAAAAAAAAAAAAAAAAAA)
c.*124+1222_*124+1223insAAAAAAAAAAAAAAAAAA (n.*124+1222_*124+1223insAAAAAAAAAAAAAAAAAA)
c.*3349-4_*3349-3insTTTTTTTTTTTTTTTTTT (n.*3349-4_*3349-3insTTTTTTTTTTTTTTTTTT)
n.3138_3139insAAAAAAAAAAAAAAAAAA
c.3096-4_3096-3insTTTTTTTTTTTTTTTTTT (n.3096-4_3096-3insTTTTTTTTTTTTTTTTTT)
c.903-4_903-3insTTTTTTTTTTTTTTTTTT (n.903-4_903-3insTTTTTTTTTTTTTTTTTT)
c.3819-4_3819-3insTTTTTTTTTTTTTTTTTT (n.3819-4_3819-3insTTTTTTTTTTTTTTTTTT)
c.4095-4_4095-3insTTTTTTTTTTTTTTTTTT (n.4095-4_4095-3insTTTTTTTTTTTTTTTTTT)
c.3912-4_3912-3insTTTTTTTTTTTTTTTTTT (n.3912-4_3912-3insTTTTTTTTTTTTTTTTTT)
c.3798-4_3798-3insTTTTTTTTTTTTTTTTTT (n.3798-4_3798-3insTTTTTTTTTTTTTTTTTT)
c.3189-4_3189-3insTTTTTTTTTTTTTTTTTT (n.3189-4_3189-3insTTTTTTTTTTTTTTTTTT)
gnomAD v3 gnomAD v4
2g.47806775_47806776insTTTTTTTTTTTTTTTTTTTTCA916529850FBXO11,MSH6c.3705-4_3705-3insTTTTTTTTTTTTTTTTTTTT (n.3705-4_3705-3insTTTTTTTTTTTTTTTTTTTT)
c.3618-4_3618-3insTTTTTTTTTTTTTTTTTTTT (n.3618-4_3618-3insTTTTTTTTTTTTTTTTTTTT)
n.4676-4_4676-3insTTTTTTTTTTTTTTTTTTTT
c.2436-4_2436-3insTTTTTTTTTTTTTTTTTTTT (n.2436-4_2436-3insTTTTTTTTTTTTTTTTTTTT)
c.4008-4_4008-3insTTTTTTTTTTTTTTTTTTTT (n.4008-4_4008-3insTTTTTTTTTTTTTTTTTTTT)
c.1457-4_1457-3insTTTTTTTTTTTTTTTTTTTT (n.1457-4_1457-3insTTTTTTTTTTTTTTTTTTTT)
c.2775-4_2775-3insTTTTTTTTTTTTTTTTTTTT (n.2775-4_2775-3insTTTTTTTTTTTTTTTTTTTT)
n.2976_2977insTTTTTTTTTTTTTTTTTTTT
n.2597-4_2597-3insTTTTTTTTTTTTTTTTTTTT
n.2264-4_2264-3insTTTTTTTTTTTTTTTTTTTT
n.2666-4_2666-3insTTTTTTTTTTTTTTTTTTTT
n.1411-4_1411-3insTTTTTTTTTTTTTTTTTTTT
n.3296-4_3296-3insTTTTTTTTTTTTTTTTTTTT
n.3976_3977insAAAAAAAAAAAAAAAAAAAA
n.4238_4239insAAAAAAAAAAAAAAAAAAAA
c.4002-4_4002-3insTTTTTTTTTTTTTTTTTTTT (n.4002-4_4002-3insTTTTTTTTTTTTTTTTTTTT)
c.3612-4_3612-3insTTTTTTTTTTTTTTTTTTTT (n.3612-4_3612-3insTTTTTTTTTTTTTTTTTTTT)
c.169+1423_169+1424insAAAAAAAAAAAAAAAAAAAA (n.169+1423_169+1424insAAAAAAAAAAAAAAAAAAAA)
c.*124+1222_*124+1223insAAAAAAAAAAAAAAAAAAAA (n.*124+1222_*124+1223insAAAAAAAAAAAAAAAAAAAA)
c.*3349-4_*3349-3insTTTTTTTTTTTTTTTTTTTT (n.*3349-4_*3349-3insTTTTTTTTTTTTTTTTTTTT)
n.3138_3139insAAAAAAAAAAAAAAAAAAAA
c.3096-4_3096-3insTTTTTTTTTTTTTTTTTTTT (n.3096-4_3096-3insTTTTTTTTTTTTTTTTTTTT)
c.903-4_903-3insTTTTTTTTTTTTTTTTTTTT (n.903-4_903-3insTTTTTTTTTTTTTTTTTTTT)
c.3819-4_3819-3insTTTTTTTTTTTTTTTTTTTT (n.3819-4_3819-3insTTTTTTTTTTTTTTTTTTTT)
c.4095-4_4095-3insTTTTTTTTTTTTTTTTTTTT (n.4095-4_4095-3insTTTTTTTTTTTTTTTTTTTT)
c.3912-4_3912-3insTTTTTTTTTTTTTTTTTTTT (n.3912-4_3912-3insTTTTTTTTTTTTTTTTTTTT)
c.3798-4_3798-3insTTTTTTTTTTTTTTTTTTTT (n.3798-4_3798-3insTTTTTTTTTTTTTTTTTTTT)
c.3189-4_3189-3insTTTTTTTTTTTTTTTTTTTT (n.3189-4_3189-3insTTTTTTTTTTTTTTTTTTTT)
dbSNP gnomAD v3 gnomAD v4
2g.47806775_47806776insTTTTTTTTTTTTTTTTTTTTTTTTCA916529851FBXO11,MSH6c.3705-4_3705-3insTTTTTTTTTTTTTTTTTTTTTTTT (n.3705-4_3705-3insTTTTTTTTTTTTTTTTTTTTTTTT)
c.3618-4_3618-3insTTTTTTTTTTTTTTTTTTTTTTTT (n.3618-4_3618-3insTTTTTTTTTTTTTTTTTTTTTTTT)
n.4676-4_4676-3insTTTTTTTTTTTTTTTTTTTTTTTT
c.2436-4_2436-3insTTTTTTTTTTTTTTTTTTTTTTTT (n.2436-4_2436-3insTTTTTTTTTTTTTTTTTTTTTTTT)
c.4008-4_4008-3insTTTTTTTTTTTTTTTTTTTTTTTT (n.4008-4_4008-3insTTTTTTTTTTTTTTTTTTTTTTTT)
c.1457-4_1457-3insTTTTTTTTTTTTTTTTTTTTTTTT (n.1457-4_1457-3insTTTTTTTTTTTTTTTTTTTTTTTT)
c.2775-4_2775-3insTTTTTTTTTTTTTTTTTTTTTTTT (n.2775-4_2775-3insTTTTTTTTTTTTTTTTTTTTTTTT)
n.2976_2977insTTTTTTTTTTTTTTTTTTTTTTTT
n.2597-4_2597-3insTTTTTTTTTTTTTTTTTTTTTTTT
n.2264-4_2264-3insTTTTTTTTTTTTTTTTTTTTTTTT
n.2666-4_2666-3insTTTTTTTTTTTTTTTTTTTTTTTT
n.1411-4_1411-3insTTTTTTTTTTTTTTTTTTTTTTTT
n.3296-4_3296-3insTTTTTTTTTTTTTTTTTTTTTTTT
n.3976_3977insAAAAAAAAAAAAAAAAAAAAAAAA
n.4238_4239insAAAAAAAAAAAAAAAAAAAAAAAA
c.4002-4_4002-3insTTTTTTTTTTTTTTTTTTTTTTTT (n.4002-4_4002-3insTTTTTTTTTTTTTTTTTTTTTTTT)
c.3612-4_3612-3insTTTTTTTTTTTTTTTTTTTTTTTT (n.3612-4_3612-3insTTTTTTTTTTTTTTTTTTTTTTTT)
c.169+1423_169+1424insAAAAAAAAAAAAAAAAAAAAAAAA (n.169+1423_169+1424insAAAAAAAAAAAAAAAAAAAAAAAA)
c.*124+1222_*124+1223insAAAAAAAAAAAAAAAAAAAAAAAA (n.*124+1222_*124+1223insAAAAAAAAAAAAAAAAAAAAAAAA)
c.*3349-4_*3349-3insTTTTTTTTTTTTTTTTTTTTTTTT (n.*3349-4_*3349-3insTTTTTTTTTTTTTTTTTTTTTTTT)
n.3138_3139insAAAAAAAAAAAAAAAAAAAAAAAA
c.3096-4_3096-3insTTTTTTTTTTTTTTTTTTTTTTTT (n.3096-4_3096-3insTTTTTTTTTTTTTTTTTTTTTTTT)
c.903-4_903-3insTTTTTTTTTTTTTTTTTTTTTTTT (n.903-4_903-3insTTTTTTTTTTTTTTTTTTTTTTTT)
c.3819-4_3819-3insTTTTTTTTTTTTTTTTTTTTTTTT (n.3819-4_3819-3insTTTTTTTTTTTTTTTTTTTTTTTT)
c.4095-4_4095-3insTTTTTTTTTTTTTTTTTTTTTTTT (n.4095-4_4095-3insTTTTTTTTTTTTTTTTTTTTTTTT)
c.3912-4_3912-3insTTTTTTTTTTTTTTTTTTTTTTTT (n.3912-4_3912-3insTTTTTTTTTTTTTTTTTTTTTTTT)
c.3798-4_3798-3insTTTTTTTTTTTTTTTTTTTTTTTT (n.3798-4_3798-3insTTTTTTTTTTTTTTTTTTTTTTTT)
c.3189-4_3189-3insTTTTTTTTTTTTTTTTTTTTTTTT (n.3189-4_3189-3insTTTTTTTTTTTTTTTTTTTTTTTT)
dbSNP
2g.47806775_47806776insTTTTTTTTTTTTTTTTTTTTTTTTTTTTCA1030297804FBXO11,MSH6c.3705-4_3705-3insTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.3705-4_3705-3insTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.3618-4_3618-3insTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.3618-4_3618-3insTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
n.4676-4_4676-3insTTTTTTTTTTTTTTTTTTTTTTTTTTTT
c.2436-4_2436-3insTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.2436-4_2436-3insTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.4008-4_4008-3insTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.4008-4_4008-3insTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.1457-4_1457-3insTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1457-4_1457-3insTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.2775-4_2775-3insTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.2775-4_2775-3insTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
n.2976_2977insTTTTTTTTTTTTTTTTTTTTTTTTTTTT
n.2597-4_2597-3insTTTTTTTTTTTTTTTTTTTTTTTTTTTT
n.2264-4_2264-3insTTTTTTTTTTTTTTTTTTTTTTTTTTTT
n.2666-4_2666-3insTTTTTTTTTTTTTTTTTTTTTTTTTTTT
n.1411-4_1411-3insTTTTTTTTTTTTTTTTTTTTTTTTTTTT
n.3296-4_3296-3insTTTTTTTTTTTTTTTTTTTTTTTTTTTT
n.3976_3977insAAAAAAAAAAAAAAAAAAAAAAAAAAAA
n.4238_4239insAAAAAAAAAAAAAAAAAAAAAAAAAAAA
c.4002-4_4002-3insTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.4002-4_4002-3insTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.3612-4_3612-3insTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.3612-4_3612-3insTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.169+1423_169+1424insAAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.169+1423_169+1424insAAAAAAAAAAAAAAAAAAAAAAAAAAAA)
c.*124+1222_*124+1223insAAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.*124+1222_*124+1223insAAAAAAAAAAAAAAAAAAAAAAAAAAAA)
c.*3349-4_*3349-3insTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*3349-4_*3349-3insTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
n.3138_3139insAAAAAAAAAAAAAAAAAAAAAAAAAAAA
c.3096-4_3096-3insTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.3096-4_3096-3insTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.903-4_903-3insTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.903-4_903-3insTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.3819-4_3819-3insTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.3819-4_3819-3insTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.4095-4_4095-3insTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.4095-4_4095-3insTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.3912-4_3912-3insTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.3912-4_3912-3insTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.3798-4_3798-3insTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.3798-4_3798-3insTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.3189-4_3189-3insTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.3189-4_3189-3insTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
gnomAD v3 gnomAD v4
2g.47806775_47806776insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCA1030297799FBXO11,MSH6c.3705-4_3705-3insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.3705-4_3705-3insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.3618-4_3618-3insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.3618-4_3618-3insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
n.4676-4_4676-3insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
c.2436-4_2436-3insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.2436-4_2436-3insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.4008-4_4008-3insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.4008-4_4008-3insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.1457-4_1457-3insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1457-4_1457-3insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.2775-4_2775-3insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.2775-4_2775-3insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
n.2976_2977insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
n.2597-4_2597-3insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
n.2264-4_2264-3insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
n.2666-4_2666-3insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
n.1411-4_1411-3insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
n.3296-4_3296-3insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
n.3976_3977insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
n.4238_4239insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
c.4002-4_4002-3insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.4002-4_4002-3insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.3612-4_3612-3insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.3612-4_3612-3insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.169+1423_169+1424insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.169+1423_169+1424insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA)
c.*124+1222_*124+1223insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.*124+1222_*124+1223insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA)
c.*3349-4_*3349-3insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*3349-4_*3349-3insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
n.3138_3139insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
c.3096-4_3096-3insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.3096-4_3096-3insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.903-4_903-3insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.903-4_903-3insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.3819-4_3819-3insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.3819-4_3819-3insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.4095-4_4095-3insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.4095-4_4095-3insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.3912-4_3912-3insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.3912-4_3912-3insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.3798-4_3798-3insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.3798-4_3798-3insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.3189-4_3189-3insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.3189-4_3189-3insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
gnomAD v3 gnomAD v4
2g.47806775_47806776insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCA1030297792FBXO11,MSH6c.3705-4_3705-3insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.3705-4_3705-3insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.3618-4_3618-3insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.3618-4_3618-3insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
n.4676-4_4676-3insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
c.2436-4_2436-3insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.2436-4_2436-3insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.4008-4_4008-3insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.4008-4_4008-3insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.1457-4_1457-3insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1457-4_1457-3insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.2775-4_2775-3insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.2775-4_2775-3insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
n.2976_2977insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
n.2597-4_2597-3insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
n.2264-4_2264-3insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
n.2666-4_2666-3insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
n.1411-4_1411-3insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
n.3296-4_3296-3insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
n.3976_3977insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
n.4238_4239insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
c.4002-4_4002-3insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.4002-4_4002-3insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.3612-4_3612-3insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.3612-4_3612-3insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.169+1423_169+1424insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.169+1423_169+1424insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA)
c.*124+1222_*124+1223insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.*124+1222_*124+1223insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA)
c.*3349-4_*3349-3insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*3349-4_*3349-3insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
n.3138_3139insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
c.3096-4_3096-3insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.3096-4_3096-3insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.903-4_903-3insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.903-4_903-3insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.3819-4_3819-3insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.3819-4_3819-3insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.4095-4_4095-3insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.4095-4_4095-3insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.3912-4_3912-3insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.3912-4_3912-3insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.3798-4_3798-3insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.3798-4_3798-3insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.3189-4_3189-3insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.3189-4_3189-3insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
dbSNP gnomAD v3 gnomAD v4
2g.47806775dupCA2499216154FBXO11,MSH6c.3705-4dup (n.3705-4dup)
c.3618-4dup (n.3618-4dup)
n.4676-4dup
c.2436-4dup (n.2436-4dup)
c.4008-4dup (n.4008-4dup)
c.1457-4dup (n.1457-4dup)
c.2775-4dup (n.2775-4dup)
n.2976dup
n.2597-4dup
n.2264-4dup
n.2666-4dup
n.1411-4dup
n.3296-4dup
n.3976dup
n.4238dup
c.4002-4dup (n.4002-4dup)
c.3612-4dup (n.3612-4dup)
c.169+1423dup (n.169+1423dup)
c.*124+1222dup (n.*124+1222dup)
c.*3349-4dup (n.*3349-4dup)
n.3138dup
c.3096-4dup (n.3096-4dup)
c.903-4dup (n.903-4dup)
c.3819-4dup (n.3819-4dup)
c.4095-4dup (n.4095-4dup)
c.3912-4dup (n.3912-4dup)
c.3798-4dup (n.3798-4dup)
c.3189-4dup (n.3189-4dup)
ClinVar dbSNP
2g.47806773_47806775dupCA532705580FBXO11,MSH6c.3705-6_3705-4dup (n.3705-6_3705-4dup)
c.3618-6_3618-4dup (n.3618-6_3618-4dup)
n.4676-6_4676-4dup
c.2436-6_2436-4dup (n.2436-6_2436-4dup)
c.4008-6_4008-4dup (n.4008-6_4008-4dup)
c.1457-6_1457-4dup (n.1457-6_1457-4dup)
c.2775-6_2775-4dup (n.2775-6_2775-4dup)
n.2974_2976dup
n.2597-6_2597-4dup
n.2264-6_2264-4dup
n.2666-6_2666-4dup
n.1411-6_1411-4dup
n.3296-6_3296-4dup
n.3974_3976dup
n.4236_4238dup
c.4002-6_4002-4dup (n.4002-6_4002-4dup)
c.3612-6_3612-4dup (n.3612-6_3612-4dup)
c.169+1421_169+1423dup (n.169+1421_169+1423dup)
c.*124+1220_*124+1222dup (n.*124+1220_*124+1222dup)
c.*3349-6_*3349-4dup (n.*3349-6_*3349-4dup)
n.3136_3138dup
c.3096-6_3096-4dup (n.3096-6_3096-4dup)
c.903-6_903-4dup (n.903-6_903-4dup)
c.3819-6_3819-4dup (n.3819-6_3819-4dup)
c.4095-6_4095-4dup (n.4095-6_4095-4dup)
c.3912-6_3912-4dup (n.3912-6_3912-4dup)
c.3798-6_3798-4dup (n.3798-6_3798-4dup)
c.3189-6_3189-4dup (n.3189-6_3189-4dup)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.47806772_47806775dupCA1030297858FBXO11,MSH6c.3705-7_3705-4dup (n.3705-7_3705-4dup)
c.3618-7_3618-4dup (n.3618-7_3618-4dup)
n.4676-7_4676-4dup
c.2436-7_2436-4dup (n.2436-7_2436-4dup)
c.4008-7_4008-4dup (n.4008-7_4008-4dup)
c.1457-7_1457-4dup (n.1457-7_1457-4dup)
c.2775-7_2775-4dup (n.2775-7_2775-4dup)
n.2973_2976dup
n.2597-7_2597-4dup
n.2264-7_2264-4dup
n.2666-7_2666-4dup
n.1411-7_1411-4dup
n.3296-7_3296-4dup
n.3973_3976dup
n.4235_4238dup
c.4002-7_4002-4dup (n.4002-7_4002-4dup)
c.3612-7_3612-4dup (n.3612-7_3612-4dup)
c.169+1420_169+1423dup (n.169+1420_169+1423dup)
c.*124+1219_*124+1222dup (n.*124+1219_*124+1222dup)
c.*3349-7_*3349-4dup (n.*3349-7_*3349-4dup)
n.3135_3138dup
c.3096-7_3096-4dup (n.3096-7_3096-4dup)
c.903-7_903-4dup (n.903-7_903-4dup)
c.3819-7_3819-4dup (n.3819-7_3819-4dup)
c.4095-7_4095-4dup (n.4095-7_4095-4dup)
c.3912-7_3912-4dup (n.3912-7_3912-4dup)
c.3798-7_3798-4dup (n.3798-7_3798-4dup)
c.3189-7_3189-4dup (n.3189-7_3189-4dup)
gnomAD v3 gnomAD v4
2g.47806775delCA2505628762FBXO11,MSH6c.3705-4del (n.3705-4del)
c.3618-4del (n.3618-4del)
n.4676-4del
c.2436-4del (n.2436-4del)
c.4008-4del (n.4008-4del)
c.1457-4del (n.1457-4del)
c.2775-4del (n.2775-4del)
n.2976del
n.2597-4del
n.2264-4del
n.2666-4del
n.1411-4del
n.3296-4del
n.3976del
n.4238del
c.4002-4del (n.4002-4del)
c.3612-4del (n.3612-4del)
c.169+1423del (n.169+1423del)
c.*124+1222del (n.*124+1222del)
c.*3349-4del (n.*3349-4del)
n.3138del
c.3096-4del (n.3096-4del)
c.903-4del (n.903-4del)
c.3819-4del (n.3819-4del)
c.4095-4del (n.4095-4del)
c.3912-4del (n.3912-4del)
c.3798-4del (n.3798-4del)
c.3189-4del (n.3189-4del)
2g.47806772_47806778delinsTTTTAAGCA2496054518FBXO11,MSH6c.3705-7_3705-1delinsTTTTAAG (n.3705-7_3705-1delinsTTTTAAG)
c.3618-7_3618-1delinsTTTTAAG (n.3618-7_3618-1delinsTTTTAAG)
n.4676-7_4676-1delinsTTTTAAG
c.2436-7_2436-1delinsTTTTAAG (n.2436-7_2436-1delinsTTTTAAG)
c.4008-7_4008-1delinsTTTTAAG (n.4008-7_4008-1delinsTTTTAAG)
c.1457-7_1457-1delinsTTTTAAG (n.1457-7_1457-1delinsTTTTAAG)
c.2775-7_2775-1delinsTTTTAAG (n.2775-7_2775-1delinsTTTTAAG)
n.2973_2979delinsTTTTAAG
n.2597-7_2597-1delinsTTTTAAG
n.2264-7_2264-1delinsTTTTAAG
n.2666-7_2666-1delinsTTTTAAG
n.1411-7_1411-1delinsTTTTAAG
n.3296-7_3296-1delinsTTTTAAG
n.3970_3976delinsCTTAAAA
n.4232_4238delinsCTTAAAA
c.4002-7_4002-1delinsTTTTAAG (n.4002-7_4002-1delinsTTTTAAG)
c.3612-7_3612-1delinsTTTTAAG (n.3612-7_3612-1delinsTTTTAAG)
c.169+1417_169+1423delinsCTTAAAA (n.169+1417_169+1423delinsCTTAAAA)
c.*124+1216_*124+1222delinsCTTAAAA (n.*124+1216_*124+1222delinsCTTAAAA)
c.*3349-7_*3349-1delinsTTTTAAG (n.*3349-7_*3349-1delinsTTTTAAG)
n.3132_3138delinsCTTAAAA
c.3096-7_3096-1delinsTTTTAAG (n.3096-7_3096-1delinsTTTTAAG)
c.903-7_903-1delinsTTTTAAG (n.903-7_903-1delinsTTTTAAG)
c.3819-7_3819-1delinsTTTTAAG (n.3819-7_3819-1delinsTTTTAAG)
c.4095-7_4095-1delinsTTTTAAG (n.4095-7_4095-1delinsTTTTAAG)
c.3912-7_3912-1delinsTTTTAAG (n.3912-7_3912-1delinsTTTTAAG)
c.3798-7_3798-1delinsTTTTAAG (n.3798-7_3798-1delinsTTTTAAG)
c.3189-7_3189-1delinsTTTTAAG (n.3189-7_3189-1delinsTTTTAAG)
2g.47806773T>ACA2699333579FBXO11,MSH6c.3705-6T>A (n.3705-6T>A)
c.3618-6T>A (n.3618-6T>A)
n.4676-6T>A
c.2436-6T>A (n.2436-6T>A)
c.4008-6T>A (n.4008-6T>A)
c.1457-6T>A (n.1457-6T>A)
c.2775-6T>A (n.2775-6T>A)
n.2974T>A
n.2597-6T>A
n.2264-6T>A
n.2666-6T>A
n.1411-6T>A
n.3296-6T>A
n.3975A>T
n.4237A>T
c.4002-6T>A (n.4002-6T>A)
c.3612-6T>A (n.3612-6T>A)
c.169+1422A>T (n.169+1422A>T)
c.*124+1221A>T (n.*124+1221A>T)
c.*3349-6T>A (n.*3349-6T>A)
n.3137A>T
c.3096-6T>A (n.3096-6T>A)
c.903-6T>A (n.903-6T>A)
c.3819-6T>A (n.3819-6T>A)
c.4095-6T>A (n.4095-6T>A)
c.3912-6T>A (n.3912-6T>A)
c.3798-6T>A (n.3798-6T>A)
c.3189-6T>A (n.3189-6T>A)
dbSNP
2g.47806773T>CCA2699333381FBXO11,MSH6c.3705-6T>C (n.3705-6T>C)
c.3618-6T>C (n.3618-6T>C)
n.4676-6T>C
c.2436-6T>C (n.2436-6T>C)
c.4008-6T>C (n.4008-6T>C)
c.1457-6T>C (n.1457-6T>C)
c.2775-6T>C (n.2775-6T>C)
n.2974T>C
n.2597-6T>C
n.2264-6T>C
n.2666-6T>C
n.1411-6T>C
n.3296-6T>C
n.3975A>G
n.4237A>G
c.4002-6T>C (n.4002-6T>C)
c.3612-6T>C (n.3612-6T>C)
c.169+1422A>G (n.169+1422A>G)
c.*124+1221A>G (n.*124+1221A>G)
c.*3349-6T>C (n.*3349-6T>C)
n.3137A>G
c.3096-6T>C (n.3096-6T>C)
c.903-6T>C (n.903-6T>C)
c.3819-6T>C (n.3819-6T>C)
c.4095-6T>C (n.4095-6T>C)
c.3912-6T>C (n.3912-6T>C)
c.3798-6T>C (n.3798-6T>C)
c.3189-6T>C (n.3189-6T>C)
dbSNP
2g.47806773T>GCA2573134806FBXO11,MSH6c.3705-6T>G (n.3705-6T>G)
c.3618-6T>G (n.3618-6T>G)
n.4676-6T>G
c.2436-6T>G (n.2436-6T>G)
c.4008-6T>G (n.4008-6T>G)
c.1457-6T>G (n.1457-6T>G)
c.2775-6T>G (n.2775-6T>G)
n.2974T>G
n.2597-6T>G
n.2264-6T>G
n.2666-6T>G
n.1411-6T>G
n.3296-6T>G
n.3975A>C
n.4237A>C
c.4002-6T>G (n.4002-6T>G)
c.3612-6T>G (n.3612-6T>G)
c.169+1422A>C (n.169+1422A>C)
c.*124+1221A>C (n.*124+1221A>C)
c.*3349-6T>G (n.*3349-6T>G)
n.3137A>C
c.3096-6T>G (n.3096-6T>G)
c.903-6T>G (n.903-6T>G)
c.3819-6T>G (n.3819-6T>G)
c.4095-6T>G (n.4095-6T>G)
c.3912-6T>G (n.3912-6T>G)
c.3798-6T>G (n.3798-6T>G)
c.3189-6T>G (n.3189-6T>G)
ClinVar dbSNP
2g.47806773T=CA2496054520FBXO11,MSH6c.3705-6T= (n.3705-6T=)
c.3618-6T= (n.3618-6T=)
n.4676-6T=
c.2436-6T= (n.2436-6T=)
c.4008-6T= (n.4008-6T=)
c.1457-6T= (n.1457-6T=)
c.2775-6T= (n.2775-6T=)
n.2974T=
n.2597-6T=
n.2264-6T=
n.2666-6T=
n.1411-6T=
n.3296-6T=
n.3975A=
n.4237A=
c.4002-6T= (n.4002-6T=)
c.3612-6T= (n.3612-6T=)
c.169+1422A= (n.169+1422A=)
c.*124+1221A= (n.*124+1221A=)
c.*3349-6T= (n.*3349-6T=)
n.3137A=
c.3096-6T= (n.3096-6T=)
c.903-6T= (n.903-6T=)
c.3819-6T= (n.3819-6T=)
c.4095-6T= (n.4095-6T=)
c.3912-6T= (n.3912-6T=)
c.3798-6T= (n.3798-6T=)
c.3189-6T= (n.3189-6T=)
2g.47806773_47806778delCA1139656991FBXO11,MSH6c.3705-6_3705-1del (n.3705-6_3705-1del)
c.3618-6_3618-1del (n.3618-6_3618-1del)
n.4676-6_4676-1del
c.2436-6_2436-1del (n.2436-6_2436-1del)
c.4008-6_4008-1del (n.4008-6_4008-1del)
c.1457-6_1457-1del (n.1457-6_1457-1del)
c.2775-6_2775-1del (n.2775-6_2775-1del)
n.2974_2979del
n.2597-6_2597-1del
n.2264-6_2264-1del
n.2666-6_2666-1del
n.1411-6_1411-1del
n.3296-6_3296-1del
n.3970_3975del
n.4232_4237del
c.4002-6_4002-1del (n.4002-6_4002-1del)
c.3612-6_3612-1del (n.3612-6_3612-1del)
c.169+1417_169+1422del (n.169+1417_169+1422del)
c.*124+1216_*124+1221del (n.*124+1216_*124+1221del)
c.*3349-6_*3349-1del (n.*3349-6_*3349-1del)
n.3132_3137del
c.3096-6_3096-1del (n.3096-6_3096-1del)
c.903-6_903-1del (n.903-6_903-1del)
c.3819-6_3819-1del (n.3819-6_3819-1del)
c.4095-6_4095-1del (n.4095-6_4095-1del)
c.3912-6_3912-1del (n.3912-6_3912-1del)
c.3798-6_3798-1del (n.3798-6_3798-1del)
c.3189-6_3189-1del (n.3189-6_3189-1del)
ClinVar dbSNP
2g.47806774T>ACA2580067586FBXO11,MSH6c.3705-5T>A (n.3705-5T>A)
c.3618-5T>A (n.3618-5T>A)
n.4676-5T>A
c.2436-5T>A (n.2436-5T>A)
c.4008-5T>A (n.4008-5T>A)
c.1457-5T>A (n.1457-5T>A)
c.2775-5T>A (n.2775-5T>A)
n.2975T>A
n.2597-5T>A
n.2264-5T>A
n.2666-5T>A
n.1411-5T>A
n.3296-5T>A
n.3974A>T
n.4236A>T
c.4002-5T>A (n.4002-5T>A)
c.3612-5T>A (n.3612-5T>A)
c.169+1421A>T (n.169+1421A>T)
c.*124+1220A>T (n.*124+1220A>T)
c.*3349-5T>A (n.*3349-5T>A)
n.3136A>T
c.3096-5T>A (n.3096-5T>A)
c.903-5T>A (n.903-5T>A)
c.3819-5T>A (n.3819-5T>A)
c.4095-5T>A (n.4095-5T>A)
c.3912-5T>A (n.3912-5T>A)
c.3798-5T>A (n.3798-5T>A)
c.3189-5T>A (n.3189-5T>A)
ClinVar dbSNP
2g.47806774T>GCA16611188FBXO11,MSH6c.3705-5T>G (n.3705-5T>G)
c.3618-5T>G (n.3618-5T>G)
n.4676-5T>G
c.2436-5T>G (n.2436-5T>G)
c.4008-5T>G (n.4008-5T>G)
c.1457-5T>G (n.1457-5T>G)
c.2775-5T>G (n.2775-5T>G)
n.2975T>G
n.2597-5T>G
n.2264-5T>G
n.2666-5T>G
n.1411-5T>G
n.3296-5T>G
n.3974A>C
n.4236A>C
c.4002-5T>G (n.4002-5T>G)
c.3612-5T>G (n.3612-5T>G)
c.169+1421A>C (n.169+1421A>C)
c.*124+1220A>C (n.*124+1220A>C)
c.*3349-5T>G (n.*3349-5T>G)
n.3136A>C
c.3096-5T>G (n.3096-5T>G)
c.903-5T>G (n.903-5T>G)
c.3819-5T>G (n.3819-5T>G)
c.4095-5T>G (n.4095-5T>G)
c.3912-5T>G (n.3912-5T>G)
c.3798-5T>G (n.3798-5T>G)
c.3189-5T>G (n.3189-5T>G)
ClinVar dbSNP
2g.47806774T=CA2496054521FBXO11,MSH6c.3705-5T= (n.3705-5T=)
c.3618-5T= (n.3618-5T=)
n.4676-5T=
c.2436-5T= (n.2436-5T=)
c.4008-5T= (n.4008-5T=)
c.1457-5T= (n.1457-5T=)
c.2775-5T= (n.2775-5T=)
n.2975T=
n.2597-5T=
n.2264-5T=
n.2666-5T=
n.1411-5T=
n.3296-5T=
n.3974A=
n.4236A=
c.4002-5T= (n.4002-5T=)
c.3612-5T= (n.3612-5T=)
c.169+1421A= (n.169+1421A=)
c.*124+1220A= (n.*124+1220A=)
c.*3349-5T= (n.*3349-5T=)
n.3136A=
c.3096-5T= (n.3096-5T=)
c.903-5T= (n.903-5T=)
c.3819-5T= (n.3819-5T=)
c.4095-5T= (n.4095-5T=)
c.3912-5T= (n.3912-5T=)
c.3798-5T= (n.3798-5T=)
c.3189-5T= (n.3189-5T=)
2g.47806774_47806787dupCA10577297FBXO11,MSH6c.3705-5_3713dup
c.3618-5_3626dup
n.4676-5_4684dup
c.2436-5_2444dup
c.4008-5_4016dup
c.1457-5_1465dup
c.2775-5_2783dup
n.2975_2988dup
n.2597-5_2605dup
n.2264-5_2272dup
n.2666-5_2674dup
n.1411-5_1419dup
n.3296-5_3304dup
n.3961_3974dup
n.4223_4236dup
c.4002-5_4010dup
c.3612-5_3620dup
c.169+1408_169+1421dup (n.169+1408_169+1421dup)
c.*124+1207_*124+1220dup (n.*124+1207_*124+1220dup)
c.*3349-5_*3357dup
n.3123_3136dup
c.3096-5_3104dup
c.903-5_911dup
c.3819-5_3827dup
c.4095-5_4103dup
c.3912-5_3920dup
c.3798-5_3806dup
c.3189-5_3197dup
ClinVar dbSNP
2g.47806775_47806797dupCA2573134807FBXO11,MSH6c.3705-4_3723dup
c.3618-4_3636dup
n.4676-4_4694dup
c.2436-4_2454dup
c.4008-4_4026dup
c.1457-4_1475dup
c.2775-4_2793dup
n.2976_2998dup
n.2597-4_2615dup
n.2264-4_2282dup
n.2666-4_2684dup
n.1411-4_1429dup
n.3296-4_3314dup
n.3952_3974dup
n.4214_4236dup
c.4002-4_4020dup
c.3612-4_3630dup
c.169+1399_169+1421dup (n.169+1399_169+1421dup)
c.*124+1198_*124+1220dup (n.*124+1198_*124+1220dup)
c.*3349-4_*3367dup
n.3114_3136dup
c.3096-4_3114dup
c.903-4_921dup
c.3819-4_3837dup
c.4095-4_4113dup
c.3912-4_3930dup
c.3798-4_3816dup
c.3189-4_3207dup
ClinVar dbSNP
2g.47806775T>ACA2658970243FBXO11,MSH6c.3705-4T>A (n.3705-4T>A)
c.3618-4T>A (n.3618-4T>A)
n.4676-4T>A
c.2436-4T>A (n.2436-4T>A)
c.4008-4T>A (n.4008-4T>A)
c.1457-4T>A (n.1457-4T>A)
c.2775-4T>A (n.2775-4T>A)
n.2976T>A
n.2597-4T>A
n.2264-4T>A
n.2666-4T>A
n.1411-4T>A
n.3296-4T>A
n.3973A>T
n.4235A>T
c.4002-4T>A (n.4002-4T>A)
c.3612-4T>A (n.3612-4T>A)
c.169+1420A>T (n.169+1420A>T)
c.*124+1219A>T (n.*124+1219A>T)
c.*3349-4T>A (n.*3349-4T>A)
n.3135A>T
c.3096-4T>A (n.3096-4T>A)
c.903-4T>A (n.903-4T>A)
c.3819-4T>A (n.3819-4T>A)
c.4095-4T>A (n.4095-4T>A)
c.3912-4T>A (n.3912-4T>A)
c.3798-4T>A (n.3798-4T>A)
c.3189-4T>A (n.3189-4T>A)
gnomAD v4
2g.47806775T>CCA015278FBXO11,MSH6c.3705-4T>C (n.3705-4T>C)
c.3618-4T>C (n.3618-4T>C)
n.4676-4T>C
c.2436-4T>C (n.2436-4T>C)
c.4008-4T>C (n.4008-4T>C)
c.1457-4T>C (n.1457-4T>C)
c.2775-4T>C (n.2775-4T>C)
n.2976T>C
n.2597-4T>C
n.2264-4T>C
n.2666-4T>C
n.1411-4T>C
n.3296-4T>C
n.3973A>G
n.4235A>G
c.4002-4T>C (n.4002-4T>C)
c.3612-4T>C (n.3612-4T>C)
c.169+1420A>G (n.169+1420A>G)
c.*124+1219A>G (n.*124+1219A>G)
c.*3349-4T>C (n.*3349-4T>C)
n.3135A>G
c.3096-4T>C (n.3096-4T>C)
c.903-4T>C (n.903-4T>C)
c.3819-4T>C (n.3819-4T>C)
c.4095-4T>C (n.4095-4T>C)
c.3912-4T>C (n.3912-4T>C)
c.3798-4T>C (n.3798-4T>C)
c.3189-4T>C (n.3189-4T>C)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.47806775T=CA2496054522FBXO11,MSH6c.3705-4T= (n.3705-4T=)
c.3618-4T= (n.3618-4T=)
n.4676-4T=
c.2436-4T= (n.2436-4T=)
c.4008-4T= (n.4008-4T=)
c.1457-4T= (n.1457-4T=)
c.2775-4T= (n.2775-4T=)
n.2976T=
n.2597-4T=
n.2264-4T=
n.2666-4T=
n.1411-4T=
n.3296-4T=
n.3973A=
n.4235A=
c.4002-4T= (n.4002-4T=)
c.3612-4T= (n.3612-4T=)
c.169+1420A= (n.169+1420A=)
c.*124+1219A= (n.*124+1219A=)
c.*3349-4T= (n.*3349-4T=)
n.3135A=
c.3096-4T= (n.3096-4T=)
c.903-4T= (n.903-4T=)
c.3819-4T= (n.3819-4T=)
c.4095-4T= (n.4095-4T=)
c.3912-4T= (n.3912-4T=)
c.3798-4T= (n.3798-4T=)
c.3189-4T= (n.3189-4T=)
2g.47806775_47806782delinsTAAGGGAACA2496054523FBXO11,MSH6c.3705-4_3708delinsTAAGGGAA
c.3618-4_3621delinsTAAGGGAA
n.4676-4_4679delinsTAAGGGAA
c.2436-4_2439delinsTAAGGGAA
c.4008-4_4011delinsTAAGGGAA
c.1457-4_1460delinsTAAGGGAA
c.2775-4_2778delinsTAAGGGAA
n.2976_2983delinsTAAGGGAA
n.2597-4_2600delinsTAAGGGAA
n.2264-4_2267delinsTAAGGGAA
n.2666-4_2669delinsTAAGGGAA
n.1411-4_1414delinsTAAGGGAA
n.3296-4_3299delinsTAAGGGAA
n.3966_3973delinsTTCCCTTA
n.4228_4235delinsTTCCCTTA
c.4002-4_4005delinsTAAGGGAA
c.3612-4_3615delinsTAAGGGAA
c.169+1413_169+1420delinsTTCCCTTA (n.169+1413_169+1420delinsTTCCCTTA)
c.*124+1212_*124+1219delinsTTCCCTTA (n.*124+1212_*124+1219delinsTTCCCTTA)
c.*3349-4_*3352delinsTAAGGGAA
n.3128_3135delinsTTCCCTTA
c.3096-4_3099delinsTAAGGGAA
c.903-4_906delinsTAAGGGAA
c.3819-4_3822delinsTAAGGGAA
c.4095-4_4098delinsTAAGGGAA
c.3912-4_3915delinsTAAGGGAA
c.3798-4_3801delinsTAAGGGAA
c.3189-4_3192delinsTAAGGGAA
2g.47806775_47806783delinsTAAGGGAAGCA2496054524FBXO11,MSH6c.3705-4_3709delinsTAAGGGAAG
c.3618-4_3622delinsTAAGGGAAG
n.4676-4_4680delinsTAAGGGAAG
c.2436-4_2440delinsTAAGGGAAG
c.4008-4_4012delinsTAAGGGAAG
c.1457-4_1461delinsTAAGGGAAG
c.2775-4_2779delinsTAAGGGAAG
n.2976_2984delinsTAAGGGAAG
n.2597-4_2601delinsTAAGGGAAG
n.2264-4_2268delinsTAAGGGAAG
n.2666-4_2670delinsTAAGGGAAG
n.1411-4_1415delinsTAAGGGAAG
n.3296-4_3300delinsTAAGGGAAG
n.3965_3973delinsCTTCCCTTA
n.4227_4235delinsCTTCCCTTA
c.4002-4_4006delinsTAAGGGAAG
c.3612-4_3616delinsTAAGGGAAG
c.169+1412_169+1420delinsCTTCCCTTA (n.169+1412_169+1420delinsCTTCCCTTA)
c.*124+1211_*124+1219delinsCTTCCCTTA (n.*124+1211_*124+1219delinsCTTCCCTTA)
c.*3349-4_*3353delinsTAAGGGAAG
n.3127_3135delinsCTTCCCTTA
c.3096-4_3100delinsTAAGGGAAG
c.903-4_907delinsTAAGGGAAG
c.3819-4_3823delinsTAAGGGAAG
c.4095-4_4099delinsTAAGGGAAG
c.3912-4_3916delinsTAAGGGAAG
c.3798-4_3802delinsTAAGGGAAG
c.3189-4_3193delinsTAAGGGAAG
2g.47806776A=CA2496054525FBXO11,MSH6c.3705-3A= (n.3705-3A=)
c.3618-3A= (n.3618-3A=)
n.4676-3A=
c.2436-3A= (n.2436-3A=)
c.4008-3A= (n.4008-3A=)
c.1457-3A= (n.1457-3A=)
c.2775-3A= (n.2775-3A=)
n.2977A=
n.2597-3A=
n.2264-3A=
n.2666-3A=
n.1411-3A=
n.3296-3A=
n.3972T=
n.4234T=
c.4002-3A= (n.4002-3A=)
c.3612-3A= (n.3612-3A=)
c.169+1419T= (n.169+1419T=)
c.*124+1218T= (n.*124+1218T=)
c.*3349-3A= (n.*3349-3A=)
n.3134T=
c.3096-3A= (n.3096-3A=)
c.903-3A= (n.903-3A=)
c.3819-3A= (n.3819-3A=)
c.4095-3A= (n.4095-3A=)
c.3912-3A= (n.3912-3A=)
c.3798-3A= (n.3798-3A=)
c.3189-3A= (n.3189-3A=)
2g.47806776A>CCA916080295FBXO11,MSH6c.3705-3A>C (n.3705-3A>C)
c.3618-3A>C (n.3618-3A>C)
n.4676-3A>C
c.2436-3A>C (n.2436-3A>C)
c.4008-3A>C (n.4008-3A>C)
c.1457-3A>C (n.1457-3A>C)
c.2775-3A>C (n.2775-3A>C)
n.2977A>C
n.2597-3A>C
n.2264-3A>C
n.2666-3A>C
n.1411-3A>C
n.3296-3A>C
n.3972T>G
n.4234T>G
c.4002-3A>C (n.4002-3A>C)
c.3612-3A>C (n.3612-3A>C)
c.169+1419T>G (n.169+1419T>G)
c.*124+1218T>G (n.*124+1218T>G)
c.*3349-3A>C (n.*3349-3A>C)
n.3134T>G
c.3096-3A>C (n.3096-3A>C)
c.903-3A>C (n.903-3A>C)
c.3819-3A>C (n.3819-3A>C)
c.4095-3A>C (n.4095-3A>C)
c.3912-3A>C (n.3912-3A>C)
c.3798-3A>C (n.3798-3A>C)
c.3189-3A>C (n.3189-3A>C)
ClinVar dbSNP
2g.47806776A>TCA532705586FBXO11,MSH6c.3705-3A>T (n.3705-3A>T)
c.3618-3A>T (n.3618-3A>T)
n.4676-3A>T
c.2436-3A>T (n.2436-3A>T)
c.4008-3A>T (n.4008-3A>T)
c.1457-3A>T (n.1457-3A>T)
c.2775-3A>T (n.2775-3A>T)
n.2977A>T
n.2597-3A>T
n.2264-3A>T
n.2666-3A>T
n.1411-3A>T
n.3296-3A>T
n.3972T>A
n.4234T>A
c.4002-3A>T (n.4002-3A>T)
c.3612-3A>T (n.3612-3A>T)
c.169+1419T>A (n.169+1419T>A)
c.*124+1218T>A (n.*124+1218T>A)
c.*3349-3A>T (n.*3349-3A>T)
n.3134T>A
c.3096-3A>T (n.3096-3A>T)
c.903-3A>T (n.903-3A>T)
c.3819-3A>T (n.3819-3A>T)
c.4095-3A>T (n.4095-3A>T)
c.3912-3A>T (n.3912-3A>T)
c.3798-3A>T (n.3798-3A>T)
c.3189-3A>T (n.3189-3A>T)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.47806776_47806777delCA532705585FBXO11,MSH6c.3705-3_3705-2del (n.3705-3_3705-2del)
c.3618-3_3618-2del (n.3618-3_3618-2del)
n.4676-3_4676-2del
c.2436-3_2436-2del (n.2436-3_2436-2del)
c.4008-3_4008-2del (n.4008-3_4008-2del)
c.1457-3_1457-2del (n.1457-3_1457-2del)
c.2775-3_2775-2del (n.2775-3_2775-2del)
n.2977_2978del
n.2597-3_2597-2del
n.2264-3_2264-2del
n.2666-3_2666-2del
n.1411-3_1411-2del
n.3296-3_3296-2del
n.3971_3972del
n.4233_4234del
c.4002-3_4002-2del (n.4002-3_4002-2del)
c.3612-3_3612-2del (n.3612-3_3612-2del)
c.169+1418_169+1419del (n.169+1418_169+1419del)
c.*124+1217_*124+1218del (n.*124+1217_*124+1218del)
c.*3349-3_*3349-2del (n.*3349-3_*3349-2del)
n.3133_3134del
c.3096-3_3096-2del (n.3096-3_3096-2del)
c.903-3_903-2del (n.903-3_903-2del)
c.3819-3_3819-2del (n.3819-3_3819-2del)
c.4095-3_4095-2del (n.4095-3_4095-2del)
c.3912-3_3912-2del (n.3912-3_3912-2del)
c.3798-3_3798-2del (n.3798-3_3798-2del)
c.3189-3_3189-2del (n.3189-3_3189-2del)
gnomAD v2 gnomAD v3 gnomAD v4
2g.47806776_47806778delCA2749812358FBXO11,MSH6c.3705-3_3705-1del (n.3705-3_3705-1del)
c.3618-3_3618-1del (n.3618-3_3618-1del)
n.4676-3_4676-1del
c.2436-3_2436-1del (n.2436-3_2436-1del)
c.4008-3_4008-1del (n.4008-3_4008-1del)
c.1457-3_1457-1del (n.1457-3_1457-1del)
c.2775-3_2775-1del (n.2775-3_2775-1del)
n.2977_2979del
n.2597-3_2597-1del
n.2264-3_2264-1del
n.2666-3_2666-1del
n.1411-3_1411-1del
n.3296-3_3296-1del
n.3970_3972del
n.4232_4234del
c.4002-3_4002-1del (n.4002-3_4002-1del)
c.3612-3_3612-1del (n.3612-3_3612-1del)
c.169+1417_169+1419del (n.169+1417_169+1419del)
c.*124+1216_*124+1218del (n.*124+1216_*124+1218del)
c.*3349-3_*3349-1del (n.*3349-3_*3349-1del)
n.3132_3134del
c.3096-3_3096-1del (n.3096-3_3096-1del)
c.903-3_903-1del (n.903-3_903-1del)
c.3819-3_3819-1del (n.3819-3_3819-1del)
c.4095-3_4095-1del (n.4095-3_4095-1del)
c.3912-3_3912-1del (n.3912-3_3912-1del)
c.3798-3_3798-1del (n.3798-3_3798-1del)
c.3189-3_3189-1del (n.3189-3_3189-1del)
2g.47806776_47806779delCA2749812356FBXO11,MSH6c.3705-3_3705del
c.3618-3_3618del
n.4676-3_4676del
c.2436-3_2436del
c.4008-3_4008del
c.1457-3_1457del
c.2775-3_2775del
n.2977_2980del
n.2597-3_2597del
n.2264-3_2264del
n.2666-3_2666del
n.1411-3_1411del
n.3296-3_3296del
n.3969_3972del
n.4231_4234del
c.4002-3_4002del
c.3612-3_3612del
c.169+1416_169+1419del (n.169+1416_169+1419del)
c.*124+1215_*124+1218del (n.*124+1215_*124+1218del)
c.*3349-3_*3349del
n.3131_3134del
c.3096-3_3096del
c.903-3_903del
c.3819-3_3819del
c.4095-3_4095del
c.3912-3_3912del
c.3798-3_3798del
c.3189-3_3189del
2g.47806776_47806782delCA532705584FBXO11,MSH6c.3705-3_3708del
c.3618-3_3621del
n.4676-3_4679del
c.2436-3_2439del
c.4008-3_4011del
c.1457-3_1460del
c.2775-3_2778del
n.2977_2983del
n.2597-3_2600del
n.2264-3_2267del
n.2666-3_2669del
n.1411-3_1414del
n.3296-3_3299del
n.3966_3972del
n.4228_4234del
c.4002-3_4005del
c.3612-3_3615del
c.169+1413_169+1419del (n.169+1413_169+1419del)
c.*124+1212_*124+1218del (n.*124+1212_*124+1218del)
c.*3349-3_*3352del
n.3128_3134del
c.3096-3_3099del
c.903-3_906del
c.3819-3_3822del
c.4095-3_4098del
c.3912-3_3915del
c.3798-3_3801del
c.3189-3_3192del
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.47806777_47806782delCA2749812357FBXO11,MSH6c.3705-2_3708del
c.3618-2_3621del
n.4676-2_4679del
c.2436-2_2439del
c.4008-2_4011del
c.1457-2_1460del
c.2775-2_2778del
n.2978_2983del
n.2597-2_2600del
n.2264-2_2267del
n.2666-2_2669del
n.1411-2_1414del
n.3296-2_3299del
n.3967_3972del
n.4229_4234del
c.4002-2_4005del
c.3612-2_3615del
c.169+1414_169+1419del (n.169+1414_169+1419del)
c.*124+1213_*124+1218del (n.*124+1213_*124+1218del)
c.*3349-2_*3352del
n.3129_3134del
c.3096-2_3099del
c.903-2_906del
c.3819-2_3822del
c.4095-2_4098del
c.3912-2_3915del
c.3798-2_3801del
c.3189-2_3192del
2g.47806776_47806783delCA426122248FBXO11,MSH6c.3705-3_3709del
c.3618-3_3622del
n.4676-3_4680del
c.2436-3_2440del
c.4008-3_4012del
c.1457-3_1461del
c.2775-3_2779del
n.2977_2984del
n.2597-3_2601del
n.2264-3_2268del
n.2666-3_2670del
n.1411-3_1415del
n.3296-3_3300del
n.3965_3972del
n.4227_4234del
c.4002-3_4006del
c.3612-3_3616del
c.169+1412_169+1419del (n.169+1412_169+1419del)
c.*124+1211_*124+1218del (n.*124+1211_*124+1218del)
c.*3349-3_*3353del
n.3127_3134del
c.3096-3_3100del
c.903-3_907del
c.3819-3_3823del
c.4095-3_4099del
c.3912-3_3916del
c.3798-3_3802del
c.3189-3_3193del
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.47806779_47806783dupCA658655786FBXO11,MSH6c.3705_3709dup
c.3618_3622dup
n.4676_4680dup
c.2436_2440dup
c.4008_4012dup
c.1457_1461dup
c.2775_2779dup
n.2980_2984dup
n.2597_2601dup
n.2264_2268dup
n.2666_2670dup
n.1411_1415dup
n.3296_3300dup
n.3968_3972dup
n.4230_4234dup
c.4002_4006dup
c.3612_3616dup
c.169+1415_169+1419dup (n.169+1415_169+1419dup)
c.*124+1214_*124+1218dup (n.*124+1214_*124+1218dup)
c.*3349_*3353dup
n.3130_3134dup
c.3096_3100dup
c.903_907dup
c.3819_3823dup
c.4095_4099dup
c.3912_3916dup
c.3798_3802dup
c.3189_3193dup
ClinVar
2g.47806777A=CA2496054526FBXO11,MSH6c.3705-2A= (n.3705-2A=)
c.3618-2A= (n.3618-2A=)
n.4676-2A=
c.2436-2A= (n.2436-2A=)
c.4008-2A= (n.4008-2A=)
c.1457-2A= (n.1457-2A=)
c.2775-2A= (n.2775-2A=)
n.2978A=
n.2597-2A=
n.2264-2A=
n.2666-2A=
n.1411-2A=
n.3296-2A=
n.3971T=
n.4233T=
c.4002-2A= (n.4002-2A=)
c.3612-2A= (n.3612-2A=)
c.169+1418T= (n.169+1418T=)
c.*124+1217T= (n.*124+1217T=)
c.*3349-2A= (n.*3349-2A=)
n.3133T=
c.3096-2A= (n.3096-2A=)
c.903-2A= (n.903-2A=)
c.3819-2A= (n.3819-2A=)
c.4095-2A= (n.4095-2A=)
c.3912-2A= (n.3912-2A=)
c.3798-2A= (n.3798-2A=)
c.3189-2A= (n.3189-2A=)
2g.47806777A>CCA346761616FBXO11,MSH6c.3705-2A>C (n.3705-2A>C)
c.3618-2A>C (n.3618-2A>C)
n.4676-2A>C
c.2436-2A>C (n.2436-2A>C)
c.4008-2A>C (n.4008-2A>C)
c.1457-2A>C (n.1457-2A>C)
c.2775-2A>C (n.2775-2A>C)
n.2978A>C
n.2597-2A>C
n.2264-2A>C
n.2666-2A>C
n.1411-2A>C
n.3296-2A>C
n.3971T>G
n.4233T>G
c.4002-2A>C (n.4002-2A>C)
c.3612-2A>C (n.3612-2A>C)
c.169+1418T>G (n.169+1418T>G)
c.*124+1217T>G (n.*124+1217T>G)
c.*3349-2A>C (n.*3349-2A>C)
n.3133T>G
c.3096-2A>C (n.3096-2A>C)
c.903-2A>C (n.903-2A>C)
c.3819-2A>C (n.3819-2A>C)
c.4095-2A>C (n.4095-2A>C)
c.3912-2A>C (n.3912-2A>C)
c.3798-2A>C (n.3798-2A>C)
c.3189-2A>C (n.3189-2A>C)
2g.47806777A>GCA10582095FBXO11,MSH6c.3705-2A>G (n.3705-2A>G)
c.3618-2A>G (n.3618-2A>G)
n.4676-2A>G
c.2436-2A>G (n.2436-2A>G)
c.4008-2A>G (n.4008-2A>G)
c.1457-2A>G (n.1457-2A>G)
c.2775-2A>G (n.2775-2A>G)
n.2978A>G
n.2597-2A>G
n.2264-2A>G
n.2666-2A>G
n.1411-2A>G
n.3296-2A>G
n.3971T>C
n.4233T>C
c.4002-2A>G (n.4002-2A>G)
c.3612-2A>G (n.3612-2A>G)
c.169+1418T>C (n.169+1418T>C)
c.*124+1217T>C (n.*124+1217T>C)
c.*3349-2A>G (n.*3349-2A>G)
n.3133T>C
c.3096-2A>G (n.3096-2A>G)
c.903-2A>G (n.903-2A>G)
c.3819-2A>G (n.3819-2A>G)
c.4095-2A>G (n.4095-2A>G)
c.3912-2A>G (n.3912-2A>G)
c.3798-2A>G (n.3798-2A>G)
c.3189-2A>G (n.3189-2A>G)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.47806777A>TCA346761617FBXO11,MSH6c.3705-2A>T (n.3705-2A>T)
c.3618-2A>T (n.3618-2A>T)
n.4676-2A>T
c.2436-2A>T (n.2436-2A>T)
c.4008-2A>T (n.4008-2A>T)
c.1457-2A>T (n.1457-2A>T)
c.2775-2A>T (n.2775-2A>T)
n.2978A>T
n.2597-2A>T
n.2264-2A>T
n.2666-2A>T
n.1411-2A>T
n.3296-2A>T
n.3971T>A
n.4233T>A
c.4002-2A>T (n.4002-2A>T)
c.3612-2A>T (n.3612-2A>T)
c.169+1418T>A (n.169+1418T>A)
c.*124+1217T>A (n.*124+1217T>A)
c.*3349-2A>T (n.*3349-2A>T)
n.3133T>A
c.3096-2A>T (n.3096-2A>T)
c.903-2A>T (n.903-2A>T)
c.3819-2A>T (n.3819-2A>T)
c.4095-2A>T (n.4095-2A>T)
c.3912-2A>T (n.3912-2A>T)
c.3798-2A>T (n.3798-2A>T)
c.3189-2A>T (n.3189-2A>T)
dbSNP gnomAD v3 gnomAD v4
2g.47806777_47806778insTTTTTCA532705587FBXO11,MSH6c.3705-2_3705-1insTTTTT (n.3705-2_3705-1insTTTTT)
c.3618-2_3618-1insTTTTT (n.3618-2_3618-1insTTTTT)
n.4676-2_4676-1insTTTTT
c.2436-2_2436-1insTTTTT (n.2436-2_2436-1insTTTTT)
c.4008-2_4008-1insTTTTT (n.4008-2_4008-1insTTTTT)
c.1457-2_1457-1insTTTTT (n.1457-2_1457-1insTTTTT)
c.2775-2_2775-1insTTTTT (n.2775-2_2775-1insTTTTT)
n.2978_2979insTTTTT
n.2597-2_2597-1insTTTTT
n.2264-2_2264-1insTTTTT
n.2666-2_2666-1insTTTTT
n.1411-2_1411-1insTTTTT
n.3296-2_3296-1insTTTTT
n.3970_3971insAAAAA
n.4232_4233insAAAAA
c.4002-2_4002-1insTTTTT (n.4002-2_4002-1insTTTTT)
c.3612-2_3612-1insTTTTT (n.3612-2_3612-1insTTTTT)
c.169+1417_169+1418insAAAAA (n.169+1417_169+1418insAAAAA)
c.*124+1216_*124+1217insAAAAA (n.*124+1216_*124+1217insAAAAA)
c.*3349-2_*3349-1insTTTTT (n.*3349-2_*3349-1insTTTTT)
n.3132_3133insAAAAA
c.3096-2_3096-1insTTTTT (n.3096-2_3096-1insTTTTT)
c.903-2_903-1insTTTTT (n.903-2_903-1insTTTTT)
c.3819-2_3819-1insTTTTT (n.3819-2_3819-1insTTTTT)
c.4095-2_4095-1insTTTTT (n.4095-2_4095-1insTTTTT)
c.3912-2_3912-1insTTTTT (n.3912-2_3912-1insTTTTT)
c.3798-2_3798-1insTTTTT (n.3798-2_3798-1insTTTTT)
c.3189-2_3189-1insTTTTT (n.3189-2_3189-1insTTTTT)
gnomAD v2 gnomAD v3 gnomAD v4
2g.47806778G>ACA346761618FBXO11,MSH6c.3705-1G>A (n.3705-1G>A)
c.3618-1G>A (n.3618-1G>A)
n.4676-1G>A
c.2436-1G>A (n.2436-1G>A)
c.4008-1G>A (n.4008-1G>A)
c.1457-1G>A (n.1457-1G>A)
c.2775-1G>A (n.2775-1G>A)
n.2979G>A
n.2597-1G>A
n.2264-1G>A
n.2666-1G>A
n.1411-1G>A
n.3296-1G>A
n.3970C>T
n.4232C>T
c.4002-1G>A (n.4002-1G>A)
c.3612-1G>A (n.3612-1G>A)
c.169+1417C>T (n.169+1417C>T)
c.*124+1216C>T (n.*124+1216C>T)
c.*3349-1G>A (n.*3349-1G>A)
n.3132C>T
c.3096-1G>A (n.3096-1G>A)
c.903-1G>A (n.903-1G>A)
c.3819-1G>A (n.3819-1G>A)
c.4095-1G>A (n.4095-1G>A)
c.3912-1G>A (n.3912-1G>A)
c.3798-1G>A (n.3798-1G>A)
c.3189-1G>A (n.3189-1G>A)
ClinVar dbSNP
2g.47806778G>CCA346761620FBXO11,MSH6c.3705-1G>C (n.3705-1G>C)
c.3618-1G>C (n.3618-1G>C)
n.4676-1G>C
c.2436-1G>C (n.2436-1G>C)
c.4008-1G>C (n.4008-1G>C)
c.1457-1G>C (n.1457-1G>C)
c.2775-1G>C (n.2775-1G>C)
n.2979G>C
n.2597-1G>C
n.2264-1G>C
n.2666-1G>C
n.1411-1G>C
n.3296-1G>C
n.3970C>G
n.4232C>G
c.4002-1G>C (n.4002-1G>C)
c.3612-1G>C (n.3612-1G>C)
c.169+1417C>G (n.169+1417C>G)
c.*124+1216C>G (n.*124+1216C>G)
c.*3349-1G>C (n.*3349-1G>C)
n.3132C>G
c.3096-1G>C (n.3096-1G>C)
c.903-1G>C (n.903-1G>C)
c.3819-1G>C (n.3819-1G>C)
c.4095-1G>C (n.4095-1G>C)
c.3912-1G>C (n.3912-1G>C)
c.3798-1G>C (n.3798-1G>C)
c.3189-1G>C (n.3189-1G>C)
2g.47806778G=CA2496054527FBXO11,MSH6c.3705-1G= (n.3705-1G=)
c.3618-1G= (n.3618-1G=)
n.4676-1G=
c.2436-1G= (n.2436-1G=)
c.4008-1G= (n.4008-1G=)
c.1457-1G= (n.1457-1G=)
c.2775-1G= (n.2775-1G=)
n.2979G=
n.2597-1G=
n.2264-1G=
n.2666-1G=
n.1411-1G=
n.3296-1G=
n.3970C=
n.4232C=
c.4002-1G= (n.4002-1G=)
c.3612-1G= (n.3612-1G=)
c.169+1417C= (n.169+1417C=)
c.*124+1216C= (n.*124+1216C=)
c.*3349-1G= (n.*3349-1G=)
n.3132C=
c.3096-1G= (n.3096-1G=)
c.903-1G= (n.903-1G=)
c.3819-1G= (n.3819-1G=)
c.4095-1G= (n.4095-1G=)
c.3912-1G= (n.3912-1G=)
c.3798-1G= (n.3798-1G=)
c.3189-1G= (n.3189-1G=)
2g.47806778G>TCA346761619FBXO11,MSH6c.3705-1G>T (n.3705-1G>T)
c.3618-1G>T (n.3618-1G>T)
n.4676-1G>T
c.2436-1G>T (n.2436-1G>T)
c.4008-1G>T (n.4008-1G>T)
c.1457-1G>T (n.1457-1G>T)
c.2775-1G>T (n.2775-1G>T)
n.2979G>T
n.2597-1G>T
n.2264-1G>T
n.2666-1G>T
n.1411-1G>T
n.3296-1G>T
n.3970C>A
n.4232C>A
c.4002-1G>T (n.4002-1G>T)
c.3612-1G>T (n.3612-1G>T)
c.169+1417C>A (n.169+1417C>A)
c.*124+1216C>A (n.*124+1216C>A)
c.*3349-1G>T (n.*3349-1G>T)
n.3132C>A
c.3096-1G>T (n.3096-1G>T)
c.903-1G>T (n.903-1G>T)
c.3819-1G>T (n.3819-1G>T)
c.4095-1G>T (n.4095-1G>T)
c.3912-1G>T (n.3912-1G>T)
c.3798-1G>T (n.3798-1G>T)
c.3189-1G>T (n.3189-1G>T)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.47806780dupCA916080296FBXO11,MSH6c.3706dup
c.3619dup
n.4677dup
c.2437dup
c.4009dup
c.1458dup
c.2776dup
n.2981dup
n.2598dup
n.2265dup
n.2667dup
n.1412dup
n.3297dup
n.3970dup
n.4232dup
c.4003dup
c.3613dup
c.169+1417dup (n.169+1417dup)
c.*124+1216dup (n.*124+1216dup)
c.*3350dup
n.3132dup
c.3097dup
c.904dup
c.3820dup
c.4096dup
c.3913dup
c.3799dup
c.3190dup
ClinVar dbSNP
2g.47806780delCA2658970262FBXO11,MSH6c.3706del
c.3619del
n.4677del
c.2437del
c.4009del
c.1458del
c.2776del
n.2981del
n.2598del
n.2265del
n.2667del
n.1412del
n.3297del
n.3970del
n.4232del
c.4003del
c.3613del
c.169+1417del (n.169+1417del)
c.*124+1216del (n.*124+1216del)
c.*3350del
n.3132del
c.3097del
c.904del
c.3820del
c.4096del
c.3913del
c.3799del
c.3190del
gnomAD v4
2g.47806778_47806787dupCA915943991FBXO11,MSH6c.3705-1_3713dup
c.3618-1_3626dup
n.4676-1_4684dup
c.2436-1_2444dup
c.4008-1_4016dup
c.1457-1_1465dup
c.2775-1_2783dup
n.2979_2988dup
n.2597-1_2605dup
n.2264-1_2272dup
n.2666-1_2674dup
n.1411-1_1419dup
n.3296-1_3304dup
n.3961_3970dup
n.4223_4232dup
c.4002-1_4010dup
c.3612-1_3620dup
c.169+1408_169+1417dup (n.169+1408_169+1417dup)
c.*124+1207_*124+1216dup (n.*124+1207_*124+1216dup)
c.*3349-1_*3357dup
n.3123_3132dup
c.3096-1_3104dup
c.903-1_911dup
c.3819-1_3827dup
c.4095-1_4103dup
c.3912-1_3920dup
c.3798-1_3806dup
c.3189-1_3197dup
ClinVar dbSNP gnomAD v4
2g.47806779_47806798dupCA2658970261FBXO11,MSH6c.3705_3724dup
c.3618_3637dup
n.4676_4695dup
c.2436_2455dup
c.4008_4027dup
c.1457_1476dup
c.2775_2794dup
n.2980_2999dup
n.2597_2616dup
n.2264_2283dup
n.2666_2685dup
n.1411_1430dup
n.3296_3315dup
n.3951_3970dup
n.4213_4232dup
c.4002_4021dup
c.3612_3631dup
c.169+1398_169+1417dup (n.169+1398_169+1417dup)
c.*124+1197_*124+1216dup (n.*124+1197_*124+1216dup)
c.*3349_*3368dup
n.3113_3132dup
c.3096_3115dup
c.903_922dup
c.3819_3838dup
c.4095_4114dup
c.3912_3931dup
c.3798_3817dup
c.3189_3208dup
gnomAD v4
2g.47806779G>ACA426122249FBXO11,MSH6c.3705G>A (p.Arg1235=)
c.3618G>A (p.Arg1206=)
n.4676G>A
c.2436G>A (p.Arg812=)
c.4008G>A (p.Arg1336=)
c.1457G>A (n.1457G>A)
c.2775G>A (p.Arg925=)
n.2980G>A
n.2597G>A
n.2264G>A
n.2666G>A
n.1411G>A
n.3296G>A
n.3969C>T
n.4231C>T
c.4002G>A (p.Arg1334=)
c.3612G>A (p.Arg1204=)
c.169+1416C>T (n.169+1416C>T)
c.*124+1215C>T (n.*124+1215C>T)
c.*3349G>A (n.*3349G>A)
n.3131C>T
c.3096G>A (p.Arg1032=)
c.903G>A (p.Arg301=)
c.3819G>A (p.Arg1273=)
c.4095G>A (p.Arg1365=)
c.3912G>A (p.Arg1304=)
c.3798G>A (p.Arg1266=)
c.3189G>A (p.Arg1063=)
dbSNP
2g.47806779G>CCA426122251FBXO11,MSH6c.3705G>C (p.Arg1235=)
c.3618G>C (p.Arg1206=)
n.4676G>C
c.2436G>C (p.Arg812=)
c.4008G>C (p.Arg1336=)
c.1457G>C (n.1457G>C)
c.2775G>C (p.Arg925=)
n.2980G>C
n.2597G>C
n.2264G>C
n.2666G>C
n.1411G>C
n.3296G>C
n.3969C>G
n.4231C>G
c.4002G>C (p.Arg1334=)
c.3612G>C (p.Arg1204=)
c.169+1416C>G (n.169+1416C>G)
c.*124+1215C>G (n.*124+1215C>G)
c.*3349G>C (n.*3349G>C)
n.3131C>G
c.3096G>C (p.Arg1032=)
c.903G>C (p.Arg301=)
c.3819G>C (p.Arg1273=)
c.4095G>C (p.Arg1365=)
c.3912G>C (p.Arg1304=)
c.3798G>C (p.Arg1266=)
c.3189G>C (p.Arg1063=)
ClinVar dbSNP
2g.47806779G=CA2496054528FBXO11,MSH6c.3705G= (p.Arg1235=)
c.3618G= (p.Arg1206=)
n.4676G=
c.2436G= (p.Arg812=)
c.4008G= (p.Arg1336=)
c.1457G= (n.1457G=)
c.2775G= (p.Arg925=)
n.2980G=
n.2597G=
n.2264G=
n.2666G=
n.1411G=
n.3296G=
n.3969C=
n.4231C=
c.4002G= (p.Arg1334=)
c.3612G= (p.Arg1204=)
c.169+1416C= (n.169+1416C=)
c.*124+1215C= (n.*124+1215C=)
c.*3349G= (n.*3349G=)
n.3131C=
c.3096G= (p.Arg1032=)
c.903G= (p.Arg301=)
c.3819G= (p.Arg1273=)
c.4095G= (p.Arg1365=)
c.3912G= (p.Arg1304=)
c.3798G= (p.Arg1266=)
c.3189G= (p.Arg1063=)
2g.47806779G>TCA426122250FBXO11,MSH6c.3705G>T (p.Arg1235=)
c.3618G>T (p.Arg1206=)
n.4676G>T
c.2436G>T (p.Arg812=)
c.4008G>T (p.Arg1336=)
c.1457G>T (n.1457G>T)
c.2775G>T (p.Arg925=)
n.2980G>T
n.2597G>T
n.2264G>T
n.2666G>T
n.1411G>T
n.3296G>T
n.3969C>A
n.4231C>A
c.4002G>T (p.Arg1334=)
c.3612G>T (p.Arg1204=)
c.169+1416C>A (n.169+1416C>A)
c.*124+1215C>A (n.*124+1215C>A)
c.*3349G>T (n.*3349G>T)
n.3131C>A
c.3096G>T (p.Arg1032=)
c.903G>T (p.Arg301=)
c.3819G>T (p.Arg1273=)
c.4095G>T (p.Arg1365=)
c.3912G>T (p.Arg1304=)
c.3798G>T (p.Arg1266=)
c.3189G>T (p.Arg1063=)
dbSNP
2g.47806780_47806796dupCA1139656992FBXO11,MSH6c.3706_3722dup (p.Ser1241ArgfsTer12)
c.3619_3635dup (p.Ser1212ArgfsTer12)
n.4677_4693dup
c.2437_2453dup (p.Ser818ArgfsTer12)
c.4009_4025dup (p.Ser1342ArgfsTer12)
c.1458_1474dup (n.1458_1474dup)
c.2776_2792dup (p.Ser931ArgfsTer12)
n.2981_2997dup
n.2598_2614dup
n.2265_2281dup
n.2667_2683dup
n.1412_1428dup
n.3297_3313dup
n.3953_3969dup
n.4215_4231dup
c.4003_4019dup (p.Ser1340ArgfsTer12)
c.3613_3629dup (p.Ser1210ArgfsTer12)
c.169+1400_169+1416dup (n.169+1400_169+1416dup)
c.*124+1199_*124+1215dup (n.*124+1199_*124+1215dup)
c.*3350_*3366dup (n.*3350_*3366dup)
n.3115_3131dup
c.3097_3113dup (p.Ser1038ArgfsTer12)
c.904_920dup (p.Ser307ArgfsTer12)
c.3820_3836dup (p.Ser1279ArgfsTer12)
c.4096_4112dup (p.Ser1371ArgfsTer12)
c.3913_3929dup (p.Ser1310ArgfsTer12)
c.3799_3815dup (p.Ser1272ArgfsTer12)
c.3190_3206dup (p.Ser1069ArgfsTer12)
ClinVar dbSNP
2g.47806779_47806800dupCA2573134808FBXO11,MSH6c.3705_3726dup (p.Arg1243GlyfsTer6)
c.3618_3639dup (p.Arg1214GlyfsTer6)
n.4676_4697dup
c.2436_2457dup (p.Arg820GlyfsTer6)
c.4008_4029dup (p.Arg1344GlyfsTer6)
c.1457_1478dup (n.1457_1478dup)
c.2775_2796dup (p.Arg933GlyfsTer6)
n.2980_3001dup
n.2597_2618dup
n.2264_2285dup
n.2666_2687dup
n.1411_1432dup
n.3296_3317dup
n.3948_3969dup
n.4210_4231dup
c.4002_4023dup (p.Arg1342GlyfsTer6)
c.3612_3633dup (p.Arg1212GlyfsTer6)
c.169+1395_169+1416dup (n.169+1395_169+1416dup)
c.*124+1194_*124+1215dup (n.*124+1194_*124+1215dup)
c.*3349_*3370dup (n.*3349_*3370dup)
n.3110_3131dup
c.3096_3117dup (p.Arg1040GlyfsTer6)
c.903_924dup (p.Arg309GlyfsTer6)
c.3819_3840dup (p.Arg1281GlyfsTer6)
c.4095_4116dup (p.Arg1373GlyfsTer6)
c.3912_3933dup (p.Arg1312GlyfsTer6)
c.3798_3819dup (p.Arg1274GlyfsTer6)
c.3189_3210dup (p.Arg1071GlyfsTer6)
ClinVar dbSNP
2g.47806780G>ACA346761621FBXO11,MSH6c.3706G>A (p.Glu1236Lys)
c.3619G>A (p.Glu1207Lys)
n.4677G>A
c.2437G>A (p.Glu813Lys)
c.4009G>A (p.Glu1337Lys)
c.1458G>A (n.1458G>A)
c.2776G>A (p.Glu926Lys)
n.2981G>A
n.2598G>A
n.2265G>A
n.2667G>A
n.1412G>A
n.3297G>A
n.3968C>T
n.4230C>T
c.4003G>A (p.Glu1335Lys)
c.3613G>A (p.Glu1205Lys)
c.169+1415C>T (n.169+1415C>T)
c.*124+1214C>T (n.*124+1214C>T)
c.*3350G>A (n.*3350G>A)
n.3130C>T
c.3097G>A (p.Glu1033Lys)
c.904G>A (p.Glu302Lys)
c.3820G>A (p.Glu1274Lys)
c.4096G>A (p.Glu1366Lys)
c.3913G>A (p.Glu1305Lys)
c.3799G>A (p.Glu1267Lys)
c.3190G>A (p.Glu1064Lys)
dbSNP gnomAD v4 COSMIC
2g.47806780G>CCA346761622FBXO11,MSH6c.3706G>C (p.Glu1236Gln)
c.3619G>C (p.Glu1207Gln)
n.4677G>C
c.2437G>C (p.Glu813Gln)
c.4009G>C (p.Glu1337Gln)
c.1458G>C (n.1458G>C)
c.2776G>C (p.Glu926Gln)
n.2981G>C
n.2598G>C
n.2265G>C
n.2667G>C
n.1412G>C
n.3297G>C
n.3968C>G
n.4230C>G
c.4003G>C (p.Glu1335Gln)
c.3613G>C (p.Glu1205Gln)
c.169+1415C>G (n.169+1415C>G)
c.*124+1214C>G (n.*124+1214C>G)
c.*3350G>C (n.*3350G>C)
n.3130C>G
c.3097G>C (p.Glu1033Gln)
c.904G>C (p.Glu302Gln)
c.3820G>C (p.Glu1274Gln)
c.4096G>C (p.Glu1366Gln)
c.3913G>C (p.Glu1305Gln)
c.3799G>C (p.Glu1267Gln)
c.3190G>C (p.Glu1064Gln)
ClinVar dbSNP gnomAD v4
2g.47806780G=CA2496054529FBXO11,MSH6c.3706G= (p.Glu1236=)
c.3619G= (p.Glu1207=)
n.4677G=
c.2437G= (p.Glu813=)
c.4009G= (p.Glu1337=)
c.1458G= (n.1458G=)
c.2776G= (p.Glu926=)
n.2981G=
n.2598G=
n.2265G=
n.2667G=
n.1412G=
n.3297G=
n.3968C=
n.4230C=
c.4003G= (p.Glu1335=)
c.3613G= (p.Glu1205=)
c.169+1415C= (n.169+1415C=)
c.*124+1214C= (n.*124+1214C=)
c.*3350G= (n.*3350G=)
n.3130C=
c.3097G= (p.Glu1033=)
c.904G= (p.Glu302=)
c.3820G= (p.Glu1274=)
c.4096G= (p.Glu1366=)
c.3913G= (p.Glu1305=)
c.3799G= (p.Glu1267=)
c.3190G= (p.Glu1064=)
2g.47806780G>TCA346761623FBXO11,MSH6c.3706G>T (p.Glu1236Ter)
c.3619G>T (p.Glu1207Ter)
n.4677G>T
c.2437G>T (p.Glu813Ter)
c.4009G>T (p.Glu1337Ter)
c.1458G>T (n.1458G>T)
c.2776G>T (p.Glu926Ter)
n.2981G>T
n.2598G>T
n.2265G>T
n.2667G>T
n.1412G>T
n.3297G>T
n.3968C>A
n.4230C>A
c.4003G>T (p.Glu1335Ter)
c.3613G>T (p.Glu1205Ter)
c.169+1415C>A (n.169+1415C>A)
c.*124+1214C>A (n.*124+1214C>A)
c.*3350G>T (n.*3350G>T)
n.3130C>A
c.3097G>T (p.Glu1033Ter)
c.904G>T (p.Glu302Ter)
c.3820G>T (p.Glu1274Ter)
c.4096G>T (p.Glu1366Ter)
c.3913G>T (p.Glu1305Ter)
c.3799G>T (p.Glu1267Ter)
c.3190G>T (p.Glu1064Ter)
ClinVar dbSNP gnomAD v3 gnomAD v4
2g.47806781_47806783dupCA2658970270FBXO11,MSH6c.3707_3709dup (p.Glu1236_Val1237insGlu)
c.3620_3622dup (p.Glu1207_Val1208insGlu)
n.4678_4680dup
c.2438_2440dup (p.Glu813_Val814insGlu)
c.4010_4012dup (p.Glu1337_Val1338insGlu)
c.1459_1461dup (n.1459_1461dup)
c.2777_2779dup (p.Glu926_Val927insGlu)
n.2982_2984dup
n.2599_2601dup
n.2266_2268dup
n.2668_2670dup
n.1413_1415dup
n.3298_3300dup
n.3966_3968dup
n.4228_4230dup
c.4004_4006dup (p.Glu1335_Val1336insGlu)
c.3614_3616dup (p.Glu1205_Val1206insGlu)
c.169+1413_169+1415dup (n.169+1413_169+1415dup)
c.*124+1212_*124+1214dup (n.*124+1212_*124+1214dup)
c.*3351_*3353dup (n.*3351_*3353dup)
n.3128_3130dup
c.3098_3100dup (p.Glu1033_Val1034insGlu)
c.905_907dup (p.Glu302_Val303insGlu)
c.3821_3823dup (p.Glu1274_Val1275insGlu)
c.4097_4099dup (p.Glu1366_Val1367insGlu)
c.3914_3916dup (p.Glu1305_Val1306insGlu)
c.3800_3802dup (p.Glu1267_Val1268insGlu)
c.3191_3193dup (p.Glu1064_Val1065insGlu)
gnomAD v4
2g.47806781A=CA2496054530FBXO11,MSH6c.3707A= (p.Glu1236=)
c.3620A= (p.Glu1207=)
n.4678A=
c.2438A= (p.Glu813=)
c.4010A= (p.Glu1337=)
c.1459A= (n.1459A=)
c.2777A= (p.Glu926=)
n.2982A=
n.2599A=
n.2266A=
n.2668A=
n.1413A=
n.3298A=
n.3967T=
n.4229T=
c.4004A= (p.Glu1335=)
c.3614A= (p.Glu1205=)
c.169+1414T= (n.169+1414T=)
c.*124+1213T= (n.*124+1213T=)
c.*3351A= (n.*3351A=)
n.3129T=
c.3098A= (p.Glu1033=)
c.905A= (p.Glu302=)
c.3821A= (p.Glu1274=)
c.4097A= (p.Glu1366=)
c.3914A= (p.Glu1305=)
c.3800A= (p.Glu1267=)
c.3191A= (p.Glu1064=)
2g.47806781A>CCA015298FBXO11,MSH6c.3707A>C (p.Glu1236Ala)
c.3620A>C (p.Glu1207Ala)
n.4678A>C
c.2438A>C (p.Glu813Ala)
c.4010A>C (p.Glu1337Ala)
c.1459A>C (n.1459A>C)
c.2777A>C (p.Glu926Ala)
n.2982A>C
n.2599A>C
n.2266A>C
n.2668A>C
n.1413A>C
n.3298A>C
n.3967T>G
n.4229T>G
c.4004A>C (p.Glu1335Ala)
c.3614A>C (p.Glu1205Ala)
c.169+1414T>G (n.169+1414T>G)
c.*124+1213T>G (n.*124+1213T>G)
c.*3351A>C (n.*3351A>C)
n.3129T>G
c.3098A>C (p.Glu1033Ala)
c.905A>C (p.Glu302Ala)
c.3821A>C (p.Glu1274Ala)
c.4097A>C (p.Glu1366Ala)
c.3914A>C (p.Glu1305Ala)
c.3800A>C (p.Glu1267Ala)
c.3191A>C (p.Glu1064Ala)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.47806781A>GCA346761624FBXO11,MSH6c.3707A>G (p.Glu1236Gly)
c.3620A>G (p.Glu1207Gly)
n.4678A>G
c.2438A>G (p.Glu813Gly)
c.4010A>G (p.Glu1337Gly)
c.1459A>G (n.1459A>G)
c.2777A>G (p.Glu926Gly)
n.2982A>G
n.2599A>G
n.2266A>G
n.2668A>G
n.1413A>G
n.3298A>G
n.3967T>C
n.4229T>C
c.4004A>G (p.Glu1335Gly)
c.3614A>G (p.Glu1205Gly)
c.169+1414T>C (n.169+1414T>C)
c.*124+1213T>C (n.*124+1213T>C)
c.*3351A>G (n.*3351A>G)
n.3129T>C
c.3098A>G (p.Glu1033Gly)
c.905A>G (p.Glu302Gly)
c.3821A>G (p.Glu1274Gly)
c.4097A>G (p.Glu1366Gly)
c.3914A>G (p.Glu1305Gly)
c.3800A>G (p.Glu1267Gly)
c.3191A>G (p.Glu1064Gly)
COSMIC
2g.47806781A>TCA346761625FBXO11,MSH6c.3707A>T (p.Glu1236Val)
c.3620A>T (p.Glu1207Val)
n.4678A>T
c.2438A>T (p.Glu813Val)
c.4010A>T (p.Glu1337Val)
c.1459A>T (n.1459A>T)
c.2777A>T (p.Glu926Val)
n.2982A>T
n.2599A>T
n.2266A>T
n.2668A>T
n.1413A>T
n.3298A>T
n.3967T>A
n.4229T>A
c.4004A>T (p.Glu1335Val)
c.3614A>T (p.Glu1205Val)
c.169+1414T>A (n.169+1414T>A)
c.*124+1213T>A (n.*124+1213T>A)
c.*3351A>T (n.*3351A>T)
n.3129T>A
c.3098A>T (p.Glu1033Val)
c.905A>T (p.Glu302Val)
c.3821A>T (p.Glu1274Val)
c.4097A>T (p.Glu1366Val)
c.3914A>T (p.Glu1305Val)
c.3800A>T (p.Glu1267Val)
c.3191A>T (p.Glu1064Val)
dbSNP gnomAD v3 gnomAD v4
2g.47806781_47806784dupCA10578174FBXO11,MSH6c.3707_3710dup (p.Cys1238SerfsTer5)
c.3620_3623dup (p.Cys1209SerfsTer5)
n.4678_4681dup
c.2438_2441dup (p.Cys815SerfsTer5)
c.4010_4013dup (p.Cys1339SerfsTer5)
c.1459_1462dup (n.1459_1462dup)
c.2777_2780dup (p.Cys928SerfsTer5)
n.2982_2985dup
n.2599_2602dup
n.2266_2269dup
n.2668_2671dup
n.1413_1416dup
n.3298_3301dup
n.3964_3967dup
n.4226_4229dup
c.4004_4007dup (p.Cys1337SerfsTer5)
c.3614_3617dup (p.Cys1207SerfsTer5)
c.169+1411_169+1414dup (n.169+1411_169+1414dup)
c.*124+1210_*124+1213dup (n.*124+1210_*124+1213dup)
c.*3351_*3354dup (n.*3351_*3354dup)
n.3126_3129dup
c.3098_3101dup (p.Cys1035SerfsTer5)
c.905_908dup (p.Cys304SerfsTer5)
c.3821_3824dup (p.Cys1276SerfsTer5)
c.4097_4100dup (p.Cys1368SerfsTer5)
c.3914_3917dup (p.Cys1307SerfsTer5)
c.3800_3803dup (p.Cys1269SerfsTer5)
c.3191_3194dup (p.Cys1066SerfsTer5)
ClinVar dbSNP
2g.47806781_47806782insTTTTGTTCA2749812362FBXO11,MSH6c.3707_3708insTTTTGTT (p.Glu1236AspfsTer8)
c.3620_3621insTTTTGTT (p.Glu1207AspfsTer8)
n.4678_4679insTTTTGTT
c.2438_2439insTTTTGTT (p.Glu813AspfsTer8)
c.4010_4011insTTTTGTT (p.Glu1337AspfsTer8)
c.1459_1460insTTTTGTT (n.1459_1460insTTTTGTT)
c.2777_2778insTTTTGTT (p.Glu926AspfsTer8)
n.2982_2983insTTTTGTT
n.2599_2600insTTTTGTT
n.2266_2267insTTTTGTT
n.2668_2669insTTTTGTT
n.1413_1414insTTTTGTT
n.3298_3299insTTTTGTT
n.3966_3967insAACAAAA
n.4228_4229insAACAAAA
c.4004_4005insTTTTGTT (p.Glu1335AspfsTer8)
c.3614_3615insTTTTGTT (p.Glu1205AspfsTer8)
c.169+1413_169+1414insAACAAAA (n.169+1413_169+1414insAACAAAA)
c.*124+1212_*124+1213insAACAAAA (n.*124+1212_*124+1213insAACAAAA)
c.*3351_*3352insTTTTGTT (n.*3351_*3352insTTTTGTT)
n.3128_3129insAACAAAA
c.3098_3099insTTTTGTT (p.Glu1033AspfsTer8)
c.905_906insTTTTGTT (p.Glu302AspfsTer8)
c.3821_3822insTTTTGTT (p.Glu1274AspfsTer8)
c.4097_4098insTTTTGTT (p.Glu1366AspfsTer8)
c.3914_3915insTTTTGTT (p.Glu1305AspfsTer8)
c.3800_3801insTTTTGTT (p.Glu1267AspfsTer8)
c.3191_3192insTTTTGTT (p.Glu1064AspfsTer8)
2g.47806782A=CA2496054531FBXO11,MSH6c.3708A= (p.Glu1236=)
c.3621A= (p.Glu1207=)
n.4679A=
c.2439A= (p.Glu813=)
c.4011A= (p.Glu1337=)
c.1460A= (n.1460A=)
c.2778A= (p.Glu926=)
n.2983A=
n.2600A=
n.2267A=
n.2669A=
n.1414A=
n.3299A=
n.3966T=
n.4228T=
c.4005A= (p.Glu1335=)
c.3615A= (p.Glu1205=)
c.169+1413T= (n.169+1413T=)
c.*124+1212T= (n.*124+1212T=)
c.*3352A= (n.*3352A=)
n.3128T=
c.3099A= (p.Glu1033=)
c.906A= (p.Glu302=)
c.3822A= (p.Glu1274=)
c.4098A= (p.Glu1366=)
c.3915A= (p.Glu1305=)
c.3801A= (p.Glu1267=)
c.3192A= (p.Glu1064=)
2g.47806782A>CCA015307FBXO11,MSH6c.3708A>C (p.Glu1236Asp)
c.3621A>C (p.Glu1207Asp)
n.4679A>C
c.2439A>C (p.Glu813Asp)
c.4011A>C (p.Glu1337Asp)
c.1460A>C (n.1460A>C)
c.2778A>C (p.Glu926Asp)
n.2983A>C
n.2600A>C
n.2267A>C
n.2669A>C
n.1414A>C
n.3299A>C
n.3966T>G
n.4228T>G
c.4005A>C (p.Glu1335Asp)
c.3615A>C (p.Glu1205Asp)
c.169+1413T>G (n.169+1413T>G)
c.*124+1212T>G (n.*124+1212T>G)
c.*3352A>C (n.*3352A>C)
n.3128T>G
c.3099A>C (p.Glu1033Asp)
c.906A>C (p.Glu302Asp)
c.3822A>C (p.Glu1274Asp)
c.4098A>C (p.Glu1366Asp)
c.3915A>C (p.Glu1305Asp)
c.3801A>C (p.Glu1267Asp)
c.3192A>C (p.Glu1064Asp)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.47806782A>GCA426122252FBXO11,MSH6c.3708A>G (p.Glu1236=)
c.3621A>G (p.Glu1207=)
n.4679A>G
c.2439A>G (p.Glu813=)
c.4011A>G (p.Glu1337=)
c.1460A>G (n.1460A>G)
c.2778A>G (p.Glu926=)
n.2983A>G
n.2600A>G
n.2267A>G
n.2669A>G
n.1414A>G
n.3299A>G
n.3966T>C
n.4228T>C
c.4005A>G (p.Glu1335=)
c.3615A>G (p.Glu1205=)
c.169+1413T>C (n.169+1413T>C)
c.*124+1212T>C (n.*124+1212T>C)
c.*3352A>G (n.*3352A>G)
n.3128T>C
c.3099A>G (p.Glu1033=)
c.906A>G (p.Glu302=)
c.3822A>G (p.Glu1274=)
c.4098A>G (p.Glu1366=)
c.3915A>G (p.Glu1305=)
c.3801A>G (p.Glu1267=)
c.3192A>G (p.Glu1064=)
ClinVar dbSNP
2g.47806782A>TCA346761626FBXO11,MSH6c.3708A>T (p.Glu1236Asp)
c.3621A>T (p.Glu1207Asp)
n.4679A>T
c.2439A>T (p.Glu813Asp)
c.4011A>T (p.Glu1337Asp)
c.1460A>T (n.1460A>T)
c.2778A>T (p.Glu926Asp)
n.2983A>T
n.2600A>T
n.2267A>T
n.2669A>T
n.1414A>T
n.3299A>T
n.3966T>A
n.4228T>A
c.4005A>T (p.Glu1335Asp)
c.3615A>T (p.Glu1205Asp)
c.169+1413T>A (n.169+1413T>A)
c.*124+1212T>A (n.*124+1212T>A)
c.*3352A>T (n.*3352A>T)
n.3128T>A
c.3099A>T (p.Glu1033Asp)
c.906A>T (p.Glu302Asp)
c.3822A>T (p.Glu1274Asp)
c.4098A>T (p.Glu1366Asp)
c.3915A>T (p.Glu1305Asp)
c.3801A>T (p.Glu1267Asp)
c.3192A>T (p.Glu1064Asp)
dbSNP
2g.47806782_47806785dupCA1139656993FBXO11,MSH6c.3708_3711dup (p.Cys1238SerfsTer5)
c.3621_3624dup (p.Cys1209SerfsTer5)
n.4679_4682dup
c.2439_2442dup (p.Cys815SerfsTer5)
c.4011_4014dup (p.Cys1339SerfsTer5)
c.1460_1463dup (n.1460_1463dup)
c.2778_2781dup (p.Cys928SerfsTer5)
n.2983_2986dup
n.2600_2603dup
n.2267_2270dup
n.2669_2672dup
n.1414_1417dup
n.3299_3302dup
n.3963_3966dup
n.4225_4228dup
c.4005_4008dup (p.Cys1337SerfsTer5)
c.3615_3618dup (p.Cys1207SerfsTer5)
c.169+1410_169+1413dup (n.169+1410_169+1413dup)
c.*124+1209_*124+1212dup (n.*124+1209_*124+1212dup)
c.*3352_*3355dup (n.*3352_*3355dup)
n.3125_3128dup
c.3099_3102dup (p.Cys1035SerfsTer5)
c.906_909dup (p.Cys304SerfsTer5)
c.3822_3825dup (p.Cys1276SerfsTer5)
c.4098_4101dup (p.Cys1368SerfsTer5)
c.3915_3918dup (p.Cys1307SerfsTer5)
c.3801_3804dup (p.Cys1269SerfsTer5)
c.3192_3195dup (p.Cys1066SerfsTer5)
ClinVar dbSNP
2g.47806782_47806783insTTTTCA1030297954FBXO11,MSH6c.3708_3709insTTTT (p.Val1237PhefsTer6)
c.3621_3622insTTTT (p.Val1208PhefsTer6)
n.4679_4680insTTTT
c.2439_2440insTTTT (p.Val814PhefsTer6)
c.4011_4012insTTTT (p.Val1338PhefsTer6)
c.1460_1461insTTTT (n.1460_1461insTTTT)
c.2778_2779insTTTT (p.Val927PhefsTer6)
n.2983_2984insTTTT
n.2600_2601insTTTT
n.2267_2268insTTTT
n.2669_2670insTTTT
n.1414_1415insTTTT
n.3299_3300insTTTT
n.3965_3966insAAAA
n.4227_4228insAAAA
c.4005_4006insTTTT (p.Val1336PhefsTer6)
c.3615_3616insTTTT (p.Val1206PhefsTer6)
c.169+1412_169+1413insAAAA (n.169+1412_169+1413insAAAA)
c.*124+1211_*124+1212insAAAA (n.*124+1211_*124+1212insAAAA)
c.*3352_*3353insTTTT (n.*3352_*3353insTTTT)
n.3127_3128insAAAA
c.3099_3100insTTTT (p.Val1034PhefsTer6)
c.906_907insTTTT (p.Val303PhefsTer6)
c.3822_3823insTTTT (p.Val1275PhefsTer6)
c.4098_4099insTTTT (p.Val1367PhefsTer6)
c.3915_3916insTTTT (p.Val1306PhefsTer6)
c.3801_3802insTTTT (p.Val1268PhefsTer6)
c.3192_3193insTTTT (p.Val1065PhefsTer6)
2g.47806783G>ACA072783FBXO11,MSH6c.3709G>A (p.Val1237Ile)
c.3622G>A (p.Val1208Ile)
n.4680G>A
c.2440G>A (p.Val814Ile)
c.4012G>A (p.Val1338Ile)
c.1461G>A (n.1461G>A)
c.2779G>A (p.Val927Ile)
n.2984G>A
n.2601G>A
n.2268G>A
n.2670G>A
n.1415G>A
n.3300G>A
n.3965C>T
n.4227C>T
c.4006G>A (p.Val1336Ile)
c.3616G>A (p.Val1206Ile)
c.169+1412C>T (n.169+1412C>T)
c.*124+1211C>T (n.*124+1211C>T)
c.*3353G>A (n.*3353G>A)
n.3127C>T
c.3100G>A (p.Val1034Ile)
c.907G>A (p.Val303Ile)
c.3823G>A (p.Val1275Ile)
c.4099G>A (p.Val1367Ile)
c.3916G>A (p.Val1306Ile)
c.3802G>A (p.Val1268Ile)
c.3193G>A (p.Val1065Ile)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.47806783G>CCA346761627FBXO11,MSH6c.3709G>C (p.Val1237Leu)
c.3622G>C (p.Val1208Leu)
n.4680G>C
c.2440G>C (p.Val814Leu)
c.4012G>C (p.Val1338Leu)
c.1461G>C (n.1461G>C)
c.2779G>C (p.Val927Leu)
n.2984G>C
n.2601G>C
n.2268G>C
n.2670G>C
n.1415G>C
n.3300G>C
n.3965C>G
n.4227C>G
c.4006G>C (p.Val1336Leu)
c.3616G>C (p.Val1206Leu)
c.169+1412C>G (n.169+1412C>G)
c.*124+1211C>G (n.*124+1211C>G)
c.*3353G>C (n.*3353G>C)
n.3127C>G
c.3100G>C (p.Val1034Leu)
c.907G>C (p.Val303Leu)
c.3823G>C (p.Val1275Leu)
c.4099G>C (p.Val1367Leu)
c.3916G>C (p.Val1306Leu)
c.3802G>C (p.Val1268Leu)
c.3193G>C (p.Val1065Leu)
ClinVar dbSNP
2g.47806783G=CA2496054532FBXO11,MSH6c.3709G= (p.Val1237=)
c.3622G= (p.Val1208=)
n.4680G=
c.2440G= (p.Val814=)
c.4012G= (p.Val1338=)
c.1461G= (n.1461G=)
c.2779G= (p.Val927=)
n.2984G=
n.2601G=
n.2268G=
n.2670G=
n.1415G=
n.3300G=
n.3965C=
n.4227C=
c.4006G= (p.Val1336=)
c.3616G= (p.Val1206=)
c.169+1412C= (n.169+1412C=)
c.*124+1211C= (n.*124+1211C=)
c.*3353G= (n.*3353G=)
n.3127C=
c.3100G= (p.Val1034=)
c.907G= (p.Val303=)
c.3823G= (p.Val1275=)
c.4099G= (p.Val1367=)
c.3916G= (p.Val1306=)
c.3802G= (p.Val1268=)
c.3193G= (p.Val1065=)
2g.47806783G>TCA346761628FBXO11,MSH6c.3709G>T (p.Val1237Phe)
c.3622G>T (p.Val1208Phe)
n.4680G>T
c.2440G>T (p.Val814Phe)
c.4012G>T (p.Val1338Phe)
c.1461G>T (n.1461G>T)
c.2779G>T (p.Val927Phe)
n.2984G>T
n.2601G>T
n.2268G>T
n.2670G>T
n.1415G>T
n.3300G>T
n.3965C>A
n.4227C>A
c.4006G>T (p.Val1336Phe)
c.3616G>T (p.Val1206Phe)
c.169+1412C>A (n.169+1412C>A)
c.*124+1211C>A (n.*124+1211C>A)
c.*3353G>T (n.*3353G>T)
n.3127C>A
c.3100G>T (p.Val1034Phe)
c.907G>T (p.Val303Phe)
c.3823G>T (p.Val1275Phe)
c.4099G>T (p.Val1367Phe)
c.3916G>T (p.Val1306Phe)
c.3802G>T (p.Val1268Phe)
c.3193G>T (p.Val1065Phe)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.47806783_47806785dupCA2499216156FBXO11,MSH6c.3709_3711dup (p.Val1237_Cys1238insVal)
c.3622_3624dup (p.Val1208_Cys1209insVal)
n.4680_4682dup
c.2440_2442dup (p.Val814_Cys815insVal)
c.4012_4014dup (p.Val1338_Cys1339insVal)
c.1461_1463dup (n.1461_1463dup)
c.2779_2781dup (p.Val927_Cys928insVal)
n.2984_2986dup
n.2601_2603dup
n.2268_2270dup
n.2670_2672dup
n.1415_1417dup
n.3300_3302dup
n.3963_3965dup
n.4225_4227dup
c.4006_4008dup (p.Val1336_Cys1337insVal)
c.3616_3618dup (p.Val1206_Cys1207insVal)
c.169+1410_169+1412dup (n.169+1410_169+1412dup)
c.*124+1209_*124+1211dup (n.*124+1209_*124+1211dup)
c.*3353_*3355dup (n.*3353_*3355dup)
n.3125_3127dup
c.3100_3102dup (p.Val1034_Cys1035insVal)
c.907_909dup (p.Val303_Cys304insVal)
c.3823_3825dup (p.Val1275_Cys1276insVal)
c.4099_4101dup (p.Val1367_Cys1368insVal)
c.3916_3918dup (p.Val1306_Cys1307insVal)
c.3802_3804dup (p.Val1268_Cys1269insVal)
c.3193_3195dup (p.Val1065_Cys1066insVal)
ClinVar dbSNP
2g.47806783_47806793dupCA2658970300FBXO11,MSH6c.3709_3719dup (p.Ser1241PhefsTer10)
c.3622_3632dup (p.Ser1212PhefsTer10)
n.4680_4690dup
c.2440_2450dup (p.Ser818PhefsTer10)
c.4012_4022dup (p.Ser1342PhefsTer10)
c.1461_1471dup (n.1461_1471dup)
c.2779_2789dup (p.Ser931PhefsTer10)
n.2984_2994dup
n.2601_2611dup
n.2268_2278dup
n.2670_2680dup
n.1415_1425dup
n.3300_3310dup
n.3955_3965dup
n.4217_4227dup
c.4006_4016dup (p.Ser1340PhefsTer10)
c.3616_3626dup (p.Ser1210PhefsTer10)
c.169+1402_169+1412dup (n.169+1402_169+1412dup)
c.*124+1201_*124+1211dup (n.*124+1201_*124+1211dup)
c.*3353_*3363dup (n.*3353_*3363dup)
n.3117_3127dup
c.3100_3110dup (p.Ser1038PhefsTer10)
c.907_917dup (p.Ser307PhefsTer10)
c.3823_3833dup (p.Ser1279PhefsTer10)
c.4099_4109dup (p.Ser1371PhefsTer10)
c.3916_3926dup (p.Ser1310PhefsTer10)
c.3802_3812dup (p.Ser1272PhefsTer10)
c.3193_3203dup (p.Ser1069PhefsTer10)
gnomAD v4
2g.47806783_47806836dupCA2658970299FBXO11,MSH6c.3709_3762dup (p.Leu1254_Leu1255insValCysLeuAlaSerGluArgSerThrValAspAlaGluAlaValHisLysLeu)
c.3622_3675dup (p.Leu1225_Leu1226insValCysLeuAlaSerGluArgSerThrValAspAlaGluAlaValHisLysLeu)
n.4680_4733dup
c.2440_2493dup (p.Leu831_Leu832insValCysLeuAlaSerGluArgSerThrValAspAlaGluAlaValHisLysLeu)
c.4012_4065dup (p.Leu1355_Leu1356insValCysLeuAlaSerGluArgSerThrValAspAlaGluAlaValHisLysLeu)
c.1461_1514dup (n.1461_1514dup)
c.2779_2832dup (p.Leu944_Leu945insValCysLeuAlaSerGluArgSerThrValAspAlaGluAlaValHisLysLeu)
n.2984_3037dup
n.2601_2654dup
n.2268_2321dup
n.2670_2723dup
n.1415_1468dup
n.3300_3353dup
n.3912_3965dup
n.4174_4227dup
c.4006_4059dup (p.Leu1353_Leu1354insValCysLeuAlaSerGluArgSerThrValAspAlaGluAlaValHisLysLeu)
c.3616_3669dup (p.Leu1223_Leu1224insValCysLeuAlaSerGluArgSerThrValAspAlaGluAlaValHisLysLeu)
c.169+1359_169+1412dup (n.169+1359_169+1412dup)
c.*124+1158_*124+1211dup (n.*124+1158_*124+1211dup)
c.*3353_*3406dup (n.*3353_*3406dup)
n.3074_3127dup
c.3100_3153dup (p.Leu1051_Leu1052insValCysLeuAlaSerGluArgSerThrValAspAlaGluAlaValHisLysLeu)
c.907_960dup (p.Leu320_Leu321insValCysLeuAlaSerGluArgSerThrValAspAlaGluAlaValHisLysLeu)
c.3823_3876dup (p.Leu1292_Leu1293insValCysLeuAlaSerGluArgSerThrValAspAlaGluAlaValHisLysLeu)
c.4099_4152dup (p.Leu1384_Leu1385insValCysLeuAlaSerGluArgSerThrValAspAlaGluAlaValHisLysLeu)
c.3916_3969dup (p.Leu1323_Leu1324insValCysLeuAlaSerGluArgSerThrValAspAlaGluAlaValHisLysLeu)
c.3802_3855dup (p.Leu1285_Leu1286insValCysLeuAlaSerGluArgSerThrValAspAlaGluAlaValHisLysLeu)
c.3193_3246dup (p.Leu1082_Leu1083insValCysLeuAlaSerGluArgSerThrValAspAlaGluAlaValHisLysLeu)
gnomAD v4
2g.47806784T>ACA346761629FBXO11,MSH6c.3710T>A (p.Val1237Asp)
c.3623T>A (p.Val1208Asp)
n.4681T>A
c.2441T>A (p.Val814Asp)
c.4013T>A (p.Val1338Asp)
c.1462T>A (n.1462T>A)
c.2780T>A (p.Val927Asp)
n.2985T>A
n.2602T>A
n.2269T>A
n.2671T>A
n.1416T>A
n.3301T>A
n.3964A>T
n.4226A>T
c.4007T>A (p.Val1336Asp)
c.3617T>A (p.Val1206Asp)
c.169+1411A>T (n.169+1411A>T)
c.*124+1210A>T (n.*124+1210A>T)
c.*3354T>A (n.*3354T>A)
n.3126A>T
c.3101T>A (p.Val1034Asp)
c.908T>A (p.Val303Asp)
c.3824T>A (p.Val1275Asp)
c.4100T>A (p.Val1367Asp)
c.3917T>A (p.Val1306Asp)
c.3803T>A (p.Val1268Asp)
c.3194T>A (p.Val1065Asp)
dbSNP
2g.47806784T>CCA346761631FBXO11,MSH6c.3710T>C (p.Val1237Ala)
c.3623T>C (p.Val1208Ala)
n.4681T>C
c.2441T>C (p.Val814Ala)
c.4013T>C (p.Val1338Ala)
c.1462T>C (n.1462T>C)
c.2780T>C (p.Val927Ala)
n.2985T>C
n.2602T>C
n.2269T>C
n.2671T>C
n.1416T>C
n.3301T>C
n.3964A>G
n.4226A>G
c.4007T>C (p.Val1336Ala)
c.3617T>C (p.Val1206Ala)
c.169+1411A>G (n.169+1411A>G)
c.*124+1210A>G (n.*124+1210A>G)
c.*3354T>C (n.*3354T>C)
n.3126A>G
c.3101T>C (p.Val1034Ala)
c.908T>C (p.Val303Ala)
c.3824T>C (p.Val1275Ala)
c.4100T>C (p.Val1367Ala)
c.3917T>C (p.Val1306Ala)
c.3803T>C (p.Val1268Ala)
c.3194T>C (p.Val1065Ala)
ClinVar dbSNP
2g.47806784T>GCA346761630FBXO11,MSH6c.3710T>G (p.Val1237Gly)
c.3623T>G (p.Val1208Gly)
n.4681T>G
c.2441T>G (p.Val814Gly)
c.4013T>G (p.Val1338Gly)
c.1462T>G (n.1462T>G)
c.2780T>G (p.Val927Gly)
n.2985T>G
n.2602T>G
n.2269T>G
n.2671T>G
n.1416T>G
n.3301T>G
n.3964A>C
n.4226A>C
c.4007T>G (p.Val1336Gly)
c.3617T>G (p.Val1206Gly)
c.169+1411A>C (n.169+1411A>C)
c.*124+1210A>C (n.*124+1210A>C)
c.*3354T>G (n.*3354T>G)
n.3126A>C
c.3101T>G (p.Val1034Gly)
c.908T>G (p.Val303Gly)
c.3824T>G (p.Val1275Gly)
c.4100T>G (p.Val1367Gly)
c.3917T>G (p.Val1306Gly)
c.3803T>G (p.Val1268Gly)
c.3194T>G (p.Val1065Gly)
ClinVar dbSNP
2g.47806784T=CA2496054533FBXO11,MSH6c.3710T= (p.Val1237=)
c.3623T= (p.Val1208=)
n.4681T=
c.2441T= (p.Val814=)
c.4013T= (p.Val1338=)
c.1462T= (n.1462T=)
c.2780T= (p.Val927=)
n.2985T=
n.2602T=
n.2269T=
n.2671T=
n.1416T=
n.3301T=
n.3964A=
n.4226A=
c.4007T= (p.Val1336=)
c.3617T= (p.Val1206=)
c.169+1411A= (n.169+1411A=)
c.*124+1210A= (n.*124+1210A=)
c.*3354T= (n.*3354T=)
n.3126A=
c.3101T= (p.Val1034=)
c.908T= (p.Val303=)
c.3824T= (p.Val1275=)
c.4100T= (p.Val1367=)
c.3917T= (p.Val1306=)
c.3803T= (p.Val1268=)
c.3194T= (p.Val1065=)
2g.47806786_47806787insTTTTCA426122253FBXO11,MSH6c.3712_3713insTTTT (p.Cys1238PhefsTer5)
c.3625_3626insTTTT (p.Cys1209PhefsTer5)
n.4683_4684insTTTT
c.2443_2444insTTTT (p.Cys815PhefsTer5)
c.4015_4016insTTTT (p.Cys1339PhefsTer5)
c.1464_1465insTTTT (n.1464_1465insTTTT)
c.2782_2783insTTTT (p.Cys928PhefsTer5)
n.2987_2988insTTTT
n.2604_2605insTTTT
n.2271_2272insTTTT
n.2673_2674insTTTT
n.1418_1419insTTTT
n.3303_3304insTTTT
n.3964_3965insAAAA
n.4226_4227insAAAA
c.4009_4010insTTTT (p.Cys1337PhefsTer5)
c.3619_3620insTTTT (p.Cys1207PhefsTer5)
c.169+1411_169+1412insAAAA (n.169+1411_169+1412insAAAA)
c.*124+1210_*124+1211insAAAA (n.*124+1210_*124+1211insAAAA)
c.*3356_*3357insTTTT (n.*3356_*3357insTTTT)
n.3126_3127insAAAA
c.3103_3104insTTTT (p.Cys1035PhefsTer5)
c.910_911insTTTT (p.Cys304PhefsTer5)
c.3826_3827insTTTT (p.Cys1276PhefsTer5)
c.4102_4103insTTTT (p.Cys1368PhefsTer5)
c.3919_3920insTTTT (p.Cys1307PhefsTer5)
c.3805_3806insTTTT (p.Cys1269PhefsTer5)
c.3196_3197insTTTT (p.Cys1066PhefsTer5)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.47806786_47806787insTTTTTTTTTTCA2749812365FBXO11,MSH6c.3712_3713insTTTTTTTTTT (p.Cys1238PhefsTer7)
c.3625_3626insTTTTTTTTTT (p.Cys1209PhefsTer7)
n.4683_4684insTTTTTTTTTT
c.2443_2444insTTTTTTTTTT (p.Cys815PhefsTer7)
c.4015_4016insTTTTTTTTTT (p.Cys1339PhefsTer7)
c.1464_1465insTTTTTTTTTT (n.1464_1465insTTTTTTTTTT)
c.2782_2783insTTTTTTTTTT (p.Cys928PhefsTer7)
n.2987_2988insTTTTTTTTTT
n.2604_2605insTTTTTTTTTT
n.2271_2272insTTTTTTTTTT
n.2673_2674insTTTTTTTTTT
n.1418_1419insTTTTTTTTTT
n.3303_3304insTTTTTTTTTT
n.3964_3965insAAAAAAAAAA
n.4226_4227insAAAAAAAAAA
c.4009_4010insTTTTTTTTTT (p.Cys1337PhefsTer7)
c.3619_3620insTTTTTTTTTT (p.Cys1207PhefsTer7)
c.169+1411_169+1412insAAAAAAAAAA (n.169+1411_169+1412insAAAAAAAAAA)
c.*124+1210_*124+1211insAAAAAAAAAA (n.*124+1210_*124+1211insAAAAAAAAAA)
c.*3356_*3357insTTTTTTTTTT (n.*3356_*3357insTTTTTTTTTT)
n.3126_3127insAAAAAAAAAA
c.3103_3104insTTTTTTTTTT (p.Cys1035PhefsTer7)
c.910_911insTTTTTTTTTT (p.Cys304PhefsTer7)
c.3826_3827insTTTTTTTTTT (p.Cys1276PhefsTer7)
c.4102_4103insTTTTTTTTTT (p.Cys1368PhefsTer7)
c.3919_3920insTTTTTTTTTT (p.Cys1307PhefsTer7)
c.3805_3806insTTTTTTTTTT (p.Cys1269PhefsTer7)
c.3196_3197insTTTTTTTTTT (p.Cys1066PhefsTer7)
2g.47806785_47806786dupCA532705588FBXO11,MSH6c.3711_3712dup (p.Cys1238PhefsTer10)
c.3624_3625dup (p.Cys1209PhefsTer10)
n.4682_4683dup
c.2442_2443dup (p.Cys815PhefsTer10)
c.4014_4015dup (p.Cys1339PhefsTer10)
c.1463_1464dup (n.1463_1464dup)
c.2781_2782dup (p.Cys928PhefsTer10)
n.2986_2987dup
n.2603_2604dup
n.2270_2271dup
n.2672_2673dup
n.1417_1418dup
n.3302_3303dup
n.3963_3964dup
n.4225_4226dup
c.4008_4009dup (p.Cys1337PhefsTer10)
c.3618_3619dup (p.Cys1207PhefsTer10)
c.169+1410_169+1411dup (n.169+1410_169+1411dup)
c.*124+1209_*124+1210dup (n.*124+1209_*124+1210dup)
c.*3355_*3356dup (n.*3355_*3356dup)
n.3125_3126dup
c.3102_3103dup (p.Cys1035PhefsTer10)
c.909_910dup (p.Cys304PhefsTer10)
c.3825_3826dup (p.Cys1276PhefsTer10)
c.4101_4102dup (p.Cys1368PhefsTer10)
c.3918_3919dup (p.Cys1307PhefsTer10)
c.3804_3805dup (p.Cys1269PhefsTer10)
c.3195_3196dup (p.Cys1066PhefsTer10)
ClinVar dbSNP gnomAD v2 gnomAD v4
2g.47806786delCA2580067589FBXO11,MSH6c.3712del (p.Cys1238AlafsTer9)
c.3625del (p.Cys1209AlafsTer9)
n.4683del
c.2443del (p.Cys815AlafsTer9)
c.4015del (p.Cys1339AlafsTer9)
c.1464del (n.1464del)
c.2782del (p.Cys928AlafsTer9)
n.2987del
n.2604del
n.2271del
n.2673del
n.1418del
n.3303del
n.3964del
n.4226del
c.4009del (p.Cys1337AlafsTer9)
c.3619del (p.Cys1207AlafsTer9)
c.169+1411del (n.169+1411del)
c.*124+1210del (n.*124+1210del)
c.*3356del (n.*3356del)
n.3126del
c.3103del (p.Cys1035AlafsTer9)
c.910del (p.Cys304AlafsTer9)
c.3826del (p.Cys1276AlafsTer9)
c.4102del (p.Cys1368AlafsTer9)
c.3919del (p.Cys1307AlafsTer9)
c.3805del (p.Cys1269AlafsTer9)
c.3196del (p.Cys1066AlafsTer9)
ClinVar
2g.47806785T>ACA426122254FBXO11,MSH6c.3711T>A (p.Val1237=)
c.3624T>A (p.Val1208=)
n.4682T>A
c.2442T>A (p.Val814=)
c.4014T>A (p.Val1338=)
c.1463T>A (n.1463T>A)
c.2781T>A (p.Val927=)
n.2986T>A
n.2603T>A
n.2270T>A
n.2672T>A
n.1417T>A
n.3302T>A
n.3963A>T
n.4225A>T
c.4008T>A (p.Val1336=)
c.3618T>A (p.Val1206=)
c.169+1410A>T (n.169+1410A>T)
c.*124+1209A>T (n.*124+1209A>T)
c.*3355T>A (n.*3355T>A)
n.3125A>T
c.3102T>A (p.Val1034=)
c.909T>A (p.Val303=)
c.3825T>A (p.Val1275=)
c.4101T>A (p.Val1367=)
c.3918T>A (p.Val1306=)
c.3804T>A (p.Val1268=)
c.3195T>A (p.Val1065=)
dbSNP
2g.47806785T>CCA426122255FBXO11,MSH6c.3711T>C (p.Val1237=)
c.3624T>C (p.Val1208=)
n.4682T>C
c.2442T>C (p.Val814=)
c.4014T>C (p.Val1338=)
c.1463T>C (n.1463T>C)
c.2781T>C (p.Val927=)
n.2986T>C
n.2603T>C
n.2270T>C
n.2672T>C
n.1417T>C
n.3302T>C
n.3963A>G
n.4225A>G
c.4008T>C (p.Val1336=)
c.3618T>C (p.Val1206=)
c.169+1410A>G (n.169+1410A>G)
c.*124+1209A>G (n.*124+1209A>G)
c.*3355T>C (n.*3355T>C)
n.3125A>G
c.3102T>C (p.Val1034=)
c.909T>C (p.Val303=)
c.3825T>C (p.Val1275=)
c.4101T>C (p.Val1367=)
c.3918T>C (p.Val1306=)
c.3804T>C (p.Val1268=)
c.3195T>C (p.Val1065=)
dbSNP
2g.47806785T>GCA1649515FBXO11,MSH6c.3711T>G (p.Val1237=)
c.3624T>G (p.Val1208=)
n.4682T>G
c.2442T>G (p.Val814=)
c.4014T>G (p.Val1338=)
c.1463T>G (n.1463T>G)
c.2781T>G (p.Val927=)
n.2986T>G
n.2603T>G
n.2270T>G
n.2672T>G
n.1417T>G
n.3302T>G
n.3963A>C
n.4225A>C
c.4008T>G (p.Val1336=)
c.3618T>G (p.Val1206=)
c.169+1410A>C (n.169+1410A>C)
c.*124+1209A>C (n.*124+1209A>C)
c.*3355T>G (n.*3355T>G)
n.3125A>C
c.3102T>G (p.Val1034=)
c.909T>G (p.Val303=)
c.3825T>G (p.Val1275=)
c.4101T>G (p.Val1367=)
c.3918T>G (p.Val1306=)
c.3804T>G (p.Val1268=)
c.3195T>G (p.Val1065=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.47806785T=CA2496054535FBXO11,MSH6c.3711T= (p.Val1237=)
c.3624T= (p.Val1208=)
n.4682T=
c.2442T= (p.Val814=)
c.4014T= (p.Val1338=)
c.1463T= (n.1463T=)
c.2781T= (p.Val927=)
n.2986T=
n.2603T=
n.2270T=
n.2672T=
n.1417T=
n.3302T=
n.3963A=
n.4225A=
c.4008T= (p.Val1336=)
c.3618T= (p.Val1206=)
c.169+1410A= (n.169+1410A=)
c.*124+1209A= (n.*124+1209A=)
c.*3355T= (n.*3355T=)
n.3125A=
c.3102T= (p.Val1034=)
c.909T= (p.Val303=)
c.3825T= (p.Val1275=)
c.4101T= (p.Val1367=)
c.3918T= (p.Val1306=)
c.3804T= (p.Val1268=)
c.3195T= (p.Val1065=)
2g.47806785_47806789delinsTTGCCCA2496054534FBXO11,MSH6c.3711_3715delinsTTGCC (p.Val1237=)
c.3624_3628delinsTTGCC (p.Val1208=)
n.4682_4686delinsTTGCC
c.2442_2446delinsTTGCC (p.Val814=)
c.4014_4018delinsTTGCC (p.Val1338=)
c.1463_1467delinsTTGCC (n.1463_1467delinsTTGCC)
c.2781_2785delinsTTGCC (p.Val927=)
n.2986_2990delinsTTGCC
n.2603_2607delinsTTGCC
n.2270_2274delinsTTGCC
n.2672_2676delinsTTGCC
n.1417_1421delinsTTGCC
n.3302_3306delinsTTGCC
n.3959_3963delinsGGCAA
n.4221_4225delinsGGCAA
c.4008_4012delinsTTGCC (p.Val1336=)
c.3618_3622delinsTTGCC (p.Val1206=)
c.169+1406_169+1410delinsGGCAA (n.169+1406_169+1410delinsGGCAA)
c.*124+1205_*124+1209delinsGGCAA (n.*124+1205_*124+1209delinsGGCAA)
c.*3355_*3359delinsTTGCC (n.*3355_*3359delinsTTGCC)
n.3121_3125delinsGGCAA
c.3102_3106delinsTTGCC (p.Val1034=)
c.909_913delinsTTGCC (p.Val303=)
c.3825_3829delinsTTGCC (p.Val1275=)
c.4101_4105delinsTTGCC (p.Val1367=)
c.3918_3922delinsTTGCC (p.Val1306=)
c.3804_3808delinsTTGCC (p.Val1268=)
c.3195_3199delinsTTGCC (p.Val1065=)
2g.47806786T>ACA346761632FBXO11,MSH6c.3712T>A (p.Cys1238Ser)
c.3625T>A (p.Cys1209Ser)
n.4683T>A
c.2443T>A (p.Cys815Ser)
c.4015T>A (p.Cys1339Ser)
c.1464T>A (n.1464T>A)
c.2782T>A (p.Cys928Ser)
n.2987T>A
n.2604T>A
n.2271T>A
n.2673T>A
n.1418T>A
n.3303T>A
n.3962A>T
n.4224A>T
c.4009T>A (p.Cys1337Ser)
c.3619T>A (p.Cys1207Ser)
c.169+1409A>T (n.169+1409A>T)
c.*124+1208A>T (n.*124+1208A>T)
c.*3356T>A (n.*3356T>A)
n.3124A>T
c.3103T>A (p.Cys1035Ser)
c.910T>A (p.Cys304Ser)
c.3826T>A (p.Cys1276Ser)
c.4102T>A (p.Cys1368Ser)
c.3919T>A (p.Cys1307Ser)
c.3805T>A (p.Cys1269Ser)
c.3196T>A (p.Cys1066Ser)
ClinVar dbSNP
2g.47806786T>CCA346761633FBXO11,MSH6c.3712T>C (p.Cys1238Arg)
c.3625T>C (p.Cys1209Arg)
n.4683T>C
c.2443T>C (p.Cys815Arg)
c.4015T>C (p.Cys1339Arg)
c.1464T>C (n.1464T>C)
c.2782T>C (p.Cys928Arg)
n.2987T>C
n.2604T>C
n.2271T>C
n.2673T>C
n.1418T>C
n.3303T>C
n.3962A>G
n.4224A>G
c.4009T>C (p.Cys1337Arg)
c.3619T>C (p.Cys1207Arg)
c.169+1409A>G (n.169+1409A>G)
c.*124+1208A>G (n.*124+1208A>G)
c.*3356T>C (n.*3356T>C)
n.3124A>G
c.3103T>C (p.Cys1035Arg)
c.910T>C (p.Cys304Arg)
c.3826T>C (p.Cys1276Arg)
c.4102T>C (p.Cys1368Arg)
c.3919T>C (p.Cys1307Arg)
c.3805T>C (p.Cys1269Arg)
c.3196T>C (p.Cys1066Arg)
2g.47806786T>GCA346761634FBXO11,MSH6c.3712T>G (p.Cys1238Gly)
c.3625T>G (p.Cys1209Gly)
n.4683T>G
c.2443T>G (p.Cys815Gly)
c.4015T>G (p.Cys1339Gly)
c.1464T>G (n.1464T>G)
c.2782T>G (p.Cys928Gly)
n.2987T>G
n.2604T>G
n.2271T>G
n.2673T>G
n.1418T>G
n.3303T>G
n.3962A>C
n.4224A>C
c.4009T>G (p.Cys1337Gly)
c.3619T>G (p.Cys1207Gly)
c.169+1409A>C (n.169+1409A>C)
c.*124+1208A>C (n.*124+1208A>C)
c.*3356T>G (n.*3356T>G)
n.3124A>C
c.3103T>G (p.Cys1035Gly)
c.910T>G (p.Cys304Gly)
c.3826T>G (p.Cys1276Gly)
c.4102T>G (p.Cys1368Gly)
c.3919T>G (p.Cys1307Gly)
c.3805T>G (p.Cys1269Gly)
c.3196T>G (p.Cys1066Gly)
2g.47806786T=CA2496054536FBXO11,MSH6c.3712T= (p.Cys1238=)
c.3625T= (p.Cys1209=)
n.4683T=
c.2443T= (p.Cys815=)
c.4015T= (p.Cys1339=)
c.1464T= (n.1464T=)
c.2782T= (p.Cys928=)
n.2987T=
n.2604T=
n.2271T=
n.2673T=
n.1418T=
n.3303T=
n.3962A=
n.4224A=
c.4009T= (p.Cys1337=)
c.3619T= (p.Cys1207=)
c.169+1409A= (n.169+1409A=)
c.*124+1208A= (n.*124+1208A=)
c.*3356T= (n.*3356T=)
n.3124A=
c.3103T= (p.Cys1035=)
c.910T= (p.Cys304=)
c.3826T= (p.Cys1276=)
c.4102T= (p.Cys1368=)
c.3919T= (p.Cys1307=)
c.3805T= (p.Cys1269=)
c.3196T= (p.Cys1066=)
2g.47806788_47806791delCA1649516FBXO11,MSH6c.3714_3717del (p.Cys1238TrpfsTer8)
c.3627_3630del (p.Cys1209TrpfsTer8)
n.4685_4688del
c.2445_2448del (p.Cys815TrpfsTer8)
c.4017_4020del (p.Cys1339TrpfsTer8)
c.1466_1469del (n.1466_1469del)
c.2784_2787del (p.Cys928TrpfsTer8)
n.2989_2992del
n.2606_2609del
n.2273_2276del
n.2675_2678del
n.1420_1423del
n.3305_3308del
n.3959_3962del
n.4221_4224del
c.4011_4014del (p.Cys1337TrpfsTer8)
c.3621_3624del (p.Cys1207TrpfsTer8)
c.169+1406_169+1409del (n.169+1406_169+1409del)
c.*124+1205_*124+1208del (n.*124+1205_*124+1208del)
c.*3358_*3361del (n.*3358_*3361del)
n.3121_3124del
c.3105_3108del (p.Cys1035TrpfsTer8)
c.912_915del (p.Cys304TrpfsTer8)
c.3828_3831del (p.Cys1276TrpfsTer8)
c.4104_4107del (p.Cys1368TrpfsTer8)
c.3921_3924del (p.Cys1307TrpfsTer8)
c.3807_3810del (p.Cys1269TrpfsTer8)
c.3198_3201del (p.Cys1066TrpfsTer8)
dbSNP ExAC gnomAD v2
2g.47806788_47806798dupCA2580067590FBXO11,MSH6c.3714_3724dup (p.Glu1242AlafsTer9)
c.3627_3637dup (p.Glu1213AlafsTer9)
n.4685_4695dup
c.2445_2455dup (p.Glu819AlafsTer9)
c.4017_4027dup (p.Glu1343AlafsTer9)
c.1466_1476dup (n.1466_1476dup)
c.2784_2794dup (p.Glu932AlafsTer9)
n.2989_2999dup
n.2606_2616dup
n.2273_2283dup
n.2675_2685dup
n.1420_1430dup
n.3305_3315dup
n.3952_3962dup
n.4214_4224dup
c.4011_4021dup (p.Glu1341AlafsTer9)
c.3621_3631dup (p.Glu1211AlafsTer9)
c.169+1399_169+1409dup (n.169+1399_169+1409dup)
c.*124+1198_*124+1208dup (n.*124+1198_*124+1208dup)
c.*3358_*3368dup (n.*3358_*3368dup)
n.3114_3124dup
c.3105_3115dup (p.Glu1039AlafsTer9)
c.912_922dup (p.Glu308AlafsTer9)
c.3828_3838dup (p.Glu1280AlafsTer9)
c.4104_4114dup (p.Glu1372AlafsTer9)
c.3921_3931dup (p.Glu1311AlafsTer9)
c.3807_3817dup (p.Glu1273AlafsTer9)
c.3198_3208dup (p.Glu1070AlafsTer9)
ClinVar
2g.47806787G>ACA346761635FBXO11,MSH6c.3713G>A (p.Cys1238Tyr)
c.3626G>A (p.Cys1209Tyr)
n.4684G>A
c.2444G>A (p.Cys815Tyr)
c.4016G>A (p.Cys1339Tyr)
c.1465G>A (n.1465G>A)
c.2783G>A (p.Cys928Tyr)
n.2988G>A
n.2605G>A
n.2272G>A
n.2674G>A
n.1419G>A
n.3304G>A
n.3961C>T
n.4223C>T
c.4010G>A (p.Cys1337Tyr)
c.3620G>A (p.Cys1207Tyr)
c.169+1408C>T (n.169+1408C>T)
c.*124+1207C>T (n.*124+1207C>T)
c.*3357G>A (n.*3357G>A)
n.3123C>T
c.3104G>A (p.Cys1035Tyr)
c.911G>A (p.Cys304Tyr)
c.3827G>A (p.Cys1276Tyr)
c.4103G>A (p.Cys1368Tyr)
c.3920G>A (p.Cys1307Tyr)
c.3806G>A (p.Cys1269Tyr)
c.3197G>A (p.Cys1066Tyr)
dbSNP
2g.47806787G>CCA346761636FBXO11,MSH6c.3713G>C (p.Cys1238Ser)
c.3626G>C (p.Cys1209Ser)
n.4684G>C
c.2444G>C (p.Cys815Ser)
c.4016G>C (p.Cys1339Ser)
c.1465G>C (n.1465G>C)
c.2783G>C (p.Cys928Ser)
n.2988G>C
n.2605G>C
n.2272G>C
n.2674G>C
n.1419G>C
n.3304G>C
n.3961C>G
n.4223C>G
c.4010G>C (p.Cys1337Ser)
c.3620G>C (p.Cys1207Ser)
c.169+1408C>G (n.169+1408C>G)
c.*124+1207C>G (n.*124+1207C>G)
c.*3357G>C (n.*3357G>C)
n.3123C>G
c.3104G>C (p.Cys1035Ser)
c.911G>C (p.Cys304Ser)
c.3827G>C (p.Cys1276Ser)
c.4103G>C (p.Cys1368Ser)
c.3920G>C (p.Cys1307Ser)
c.3806G>C (p.Cys1269Ser)
c.3197G>C (p.Cys1066Ser)
ClinVar dbSNP gnomAD v4
2g.47806787G>TCA346761637FBXO11,MSH6c.3713G>T (p.Cys1238Phe)
c.3626G>T (p.Cys1209Phe)
n.4684G>T
c.2444G>T (p.Cys815Phe)
c.4016G>T (p.Cys1339Phe)
c.1465G>T (n.1465G>T)
c.2783G>T (p.Cys928Phe)
n.2988G>T
n.2605G>T
n.2272G>T
n.2674G>T
n.1419G>T
n.3304G>T
n.3961C>A
n.4223C>A
c.4010G>T (p.Cys1337Phe)
c.3620G>T (p.Cys1207Phe)
c.169+1408C>A (n.169+1408C>A)
c.*124+1207C>A (n.*124+1207C>A)
c.*3357G>T (n.*3357G>T)
n.3123C>A
c.3104G>T (p.Cys1035Phe)
c.911G>T (p.Cys304Phe)
c.3827G>T (p.Cys1276Phe)
c.4103G>T (p.Cys1368Phe)
c.3920G>T (p.Cys1307Phe)
c.3806G>T (p.Cys1269Phe)
c.3197G>T (p.Cys1066Phe)
dbSNP gnomAD v3 gnomAD v4
2g.47806787_47806788delCA2749812366FBXO11,MSH6c.3713_3714del (p.Cys1238SerfsTer3)
c.3626_3627del (p.Cys1209SerfsTer3)
n.4684_4685del
c.2444_2445del (p.Cys815SerfsTer3)
c.4016_4017del (p.Cys1339SerfsTer3)
c.1465_1466del (n.1465_1466del)
c.2783_2784del (p.Cys928SerfsTer3)
n.2988_2989del
n.2605_2606del
n.2272_2273del
n.2674_2675del
n.1419_1420del
n.3304_3305del
n.3960_3961del
n.4222_4223del
c.4010_4011del (p.Cys1337SerfsTer3)
c.3620_3621del (p.Cys1207SerfsTer3)
c.169+1407_169+1408del (n.169+1407_169+1408del)
c.*124+1206_*124+1207del (n.*124+1206_*124+1207del)
c.*3357_*3358del (n.*3357_*3358del)
n.3122_3123del
c.3104_3105del (p.Cys1035SerfsTer3)
c.911_912del (p.Cys304SerfsTer3)
c.3827_3828del (p.Cys1276SerfsTer3)
c.4103_4104del (p.Cys1368SerfsTer3)
c.3920_3921del (p.Cys1307SerfsTer3)
c.3806_3807del (p.Cys1269SerfsTer3)
c.3197_3198del (p.Cys1066SerfsTer3)
2g.47806788_47806796dupCA46720362FBXO11,MSH6c.3714_3722dup (p.Ser1241_Glu1242insLeuAlaSer)
c.3627_3635dup (p.Ser1212_Glu1213insLeuAlaSer)
n.4685_4693dup
c.2445_2453dup (p.Ser818_Glu819insLeuAlaSer)
c.4017_4025dup (p.Ser1342_Glu1343insLeuAlaSer)
c.1466_1474dup (n.1466_1474dup)
c.2784_2792dup (p.Ser931_Glu932insLeuAlaSer)
n.2989_2997dup
n.2606_2614dup
n.2273_2281dup
n.2675_2683dup
n.1420_1428dup
n.3305_3313dup
n.3953_3961dup
n.4215_4223dup
c.4011_4019dup (p.Ser1340_Glu1341insLeuAlaSer)
c.3621_3629dup (p.Ser1210_Glu1211insLeuAlaSer)
c.169+1400_169+1408dup (n.169+1400_169+1408dup)
c.*124+1199_*124+1207dup (n.*124+1199_*124+1207dup)
c.*3358_*3366dup (n.*3358_*3366dup)
n.3115_3123dup
c.3105_3113dup (p.Ser1038_Glu1039insLeuAlaSer)
c.912_920dup (p.Ser307_Glu308insLeuAlaSer)
c.3828_3836dup (p.Ser1279_Glu1280insLeuAlaSer)
c.4104_4112dup (p.Ser1371_Glu1372insLeuAlaSer)
c.3921_3929dup (p.Ser1310_Glu1311insLeuAlaSer)
c.3807_3815dup (p.Ser1272_Glu1273insLeuAlaSer)
c.3198_3206dup (p.Ser1069_Glu1070insLeuAlaSer)
ClinVar dbSNP gnomAD v3 gnomAD v4
2g.47806788C>ACA346761638FBXO11,MSH6c.3714C>A (p.Cys1238Ter)
c.3627C>A (p.Cys1209Ter)
n.4685C>A
c.2445C>A (p.Cys815Ter)
c.4017C>A (p.Cys1339Ter)
c.1466C>A (n.1466C>A)
c.2784C>A (p.Cys928Ter)
n.2989C>A
n.2606C>A
n.2273C>A
n.2675C>A
n.1420C>A
n.3305C>A
n.3960G>T
n.4222G>T
c.4011C>A (p.Cys1337Ter)
c.3621C>A (p.Cys1207Ter)
c.169+1407G>T (n.169+1407G>T)
c.*124+1206G>T (n.*124+1206G>T)
c.*3358C>A (n.*3358C>A)
n.3122G>T
c.3105C>A (p.Cys1035Ter)
c.912C>A (p.Cys304Ter)
c.3828C>A (p.Cys1276Ter)
c.4104C>A (p.Cys1368Ter)
c.3921C>A (p.Cys1307Ter)
c.3807C>A (p.Cys1269Ter)
c.3198C>A (p.Cys1066Ter)
dbSNP gnomAD v4
2g.47806788C=CA2496054537FBXO11,MSH6c.3714C= (p.Cys1238=)
c.3627C= (p.Cys1209=)
n.4685C=
c.2445C= (p.Cys815=)
c.4017C= (p.Cys1339=)
c.1466C= (n.1466C=)
c.2784C= (p.Cys928=)
n.2989C=
n.2606C=
n.2273C=
n.2675C=
n.1420C=
n.3305C=
n.3960G=
n.4222G=
c.4011C= (p.Cys1337=)
c.3621C= (p.Cys1207=)
c.169+1407G= (n.169+1407G=)
c.*124+1206G= (n.*124+1206G=)
c.*3358C= (n.*3358C=)
n.3122G=
c.3105C= (p.Cys1035=)
c.912C= (p.Cys304=)
c.3828C= (p.Cys1276=)
c.4104C= (p.Cys1368=)
c.3921C= (p.Cys1307=)
c.3807C= (p.Cys1269=)
c.3198C= (p.Cys1066=)
2g.47806788C>GCA346761639FBXO11,MSH6c.3714C>G (p.Cys1238Trp)
c.3627C>G (p.Cys1209Trp)
n.4685C>G
c.2445C>G (p.Cys815Trp)
c.4017C>G (p.Cys1339Trp)
c.1466C>G (n.1466C>G)
c.2784C>G (p.Cys928Trp)
n.2989C>G
n.2606C>G
n.2273C>G
n.2675C>G
n.1420C>G
n.3305C>G
n.3960G>C
n.4222G>C
c.4011C>G (p.Cys1337Trp)
c.3621C>G (p.Cys1207Trp)
c.169+1407G>C (n.169+1407G>C)
c.*124+1206G>C (n.*124+1206G>C)
c.*3358C>G (n.*3358C>G)
n.3122G>C
c.3105C>G (p.Cys1035Trp)
c.912C>G (p.Cys304Trp)
c.3828C>G (p.Cys1276Trp)
c.4104C>G (p.Cys1368Trp)
c.3921C>G (p.Cys1307Trp)
c.3807C>G (p.Cys1269Trp)
c.3198C>G (p.Cys1066Trp)
ClinVar dbSNP
2g.47806788C>TCA072799FBXO11,MSH6c.3714C>T (p.Cys1238=)
c.3627C>T (p.Cys1209=)
n.4685C>T
c.2445C>T (p.Cys815=)
c.4017C>T (p.Cys1339=)
c.1466C>T (n.1466C>T)
c.2784C>T (p.Cys928=)
n.2989C>T
n.2606C>T
n.2273C>T
n.2675C>T
n.1420C>T
n.3305C>T
n.3960G>A
n.4222G>A
c.4011C>T (p.Cys1337=)
c.3621C>T (p.Cys1207=)
c.169+1407G>A (n.169+1407G>A)
c.*124+1206G>A (n.*124+1206G>A)
c.*3358C>T (n.*3358C>T)
n.3122G>A
c.3105C>T (p.Cys1035=)
c.912C>T (p.Cys304=)
c.3828C>T (p.Cys1276=)
c.4104C>T (p.Cys1368=)
c.3921C>T (p.Cys1307=)
c.3807C>T (p.Cys1269=)
c.3198C>T (p.Cys1066=)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.47806788_47806807delinsCCTGGCTAGTGAAAGGTCAACA2496054538FBXO11,MSH6c.3714_3733delinsCCTGGCTAGTGAAAGGTCAA (p.Cys1238=)
c.3627_3646delinsCCTGGCTAGTGAAAGGTCAA (p.Cys1209=)
n.4685_4704delinsCCTGGCTAGTGAAAGGTCAA
c.2445_2464delinsCCTGGCTAGTGAAAGGTCAA (p.Cys815=)
c.4017_4036delinsCCTGGCTAGTGAAAGGTCAA (p.Cys1339=)
c.1466_1485delinsCCTGGCTAGTGAAAGGTCAA (n.1466_1485delinsCCTGGCTAGTGAAAGGTCAA)
c.2784_2803delinsCCTGGCTAGTGAAAGGTCAA (p.Cys928=)
n.2989_3008delinsCCTGGCTAGTGAAAGGTCAA
n.2606_2625delinsCCTGGCTAGTGAAAGGTCAA
n.2273_2292delinsCCTGGCTAGTGAAAGGTCAA
n.2675_2694delinsCCTGGCTAGTGAAAGGTCAA
n.1420_1439delinsCCTGGCTAGTGAAAGGTCAA
n.3305_3324delinsCCTGGCTAGTGAAAGGTCAA
n.3941_3960delinsTTGACCTTTCACTAGCCAGG
n.4203_4222delinsTTGACCTTTCACTAGCCAGG
c.4011_4030delinsCCTGGCTAGTGAAAGGTCAA (p.Cys1337=)
c.3621_3640delinsCCTGGCTAGTGAAAGGTCAA (p.Cys1207=)
c.169+1388_169+1407delinsTTGACCTTTCACTAGCCAGG (n.169+1388_169+1407delinsTTGACCTTTCACTAGCCAGG)
c.*124+1187_*124+1206delinsTTGACCTTTCACTAGCCAGG (n.*124+1187_*124+1206delinsTTGACCTTTCACTAGCCAGG)
c.*3358_*3377delinsCCTGGCTAGTGAAAGGTCAA (n.*3358_*3377delinsCCTGGCTAGTGAAAGGTCAA)
n.3103_3122delinsTTGACCTTTCACTAGCCAGG
c.3105_3124delinsCCTGGCTAGTGAAAGGTCAA (p.Cys1035=)
c.912_931delinsCCTGGCTAGTGAAAGGTCAA (p.Cys304=)
c.3828_3847delinsCCTGGCTAGTGAAAGGTCAA (p.Cys1276=)
c.4104_4123delinsCCTGGCTAGTGAAAGGTCAA (p.Cys1368=)
c.3921_3940delinsCCTGGCTAGTGAAAGGTCAA (p.Cys1307=)
c.3807_3826delinsCCTGGCTAGTGAAAGGTCAA (p.Cys1269=)
c.3198_3217delinsCCTGGCTAGTGAAAGGTCAA (p.Cys1066=)
2g.47806788_47806789insTTTTTTTTTTTTCA2749812367FBXO11,MSH6c.3714_3715insTTTTTTTTTTTT (p.Cys1238_Leu1239insPhePhePhePhe)
c.3627_3628insTTTTTTTTTTTT (p.Cys1209_Leu1210insPhePhePhePhe)
n.4685_4686insTTTTTTTTTTTT
c.2445_2446insTTTTTTTTTTTT (p.Cys815_Leu816insPhePhePhePhe)
c.4017_4018insTTTTTTTTTTTT (p.Cys1339_Leu1340insPhePhePhePhe)
c.1466_1467insTTTTTTTTTTTT (n.1466_1467insTTTTTTTTTTTT)
c.2784_2785insTTTTTTTTTTTT (p.Cys928_Leu929insPhePhePhePhe)
n.2989_2990insTTTTTTTTTTTT
n.2606_2607insTTTTTTTTTTTT
n.2273_2274insTTTTTTTTTTTT
n.2675_2676insTTTTTTTTTTTT
n.1420_1421insTTTTTTTTTTTT
n.3305_3306insTTTTTTTTTTTT
n.3959_3960insAAAAAAAAAAAA
n.4221_4222insAAAAAAAAAAAA
c.4011_4012insTTTTTTTTTTTT (p.Cys1337_Leu1338insPhePhePhePhe)
c.3621_3622insTTTTTTTTTTTT (p.Cys1207_Leu1208insPhePhePhePhe)
c.169+1406_169+1407insAAAAAAAAAAAA (n.169+1406_169+1407insAAAAAAAAAAAA)
c.*124+1205_*124+1206insAAAAAAAAAAAA (n.*124+1205_*124+1206insAAAAAAAAAAAA)
c.*3358_*3359insTTTTTTTTTTTT (n.*3358_*3359insTTTTTTTTTTTT)
n.3121_3122insAAAAAAAAAAAA
c.3105_3106insTTTTTTTTTTTT (p.Cys1035_Leu1036insPhePhePhePhe)
c.912_913insTTTTTTTTTTTT (p.Cys304_Leu305insPhePhePhePhe)
c.3828_3829insTTTTTTTTTTTT (p.Cys1276_Leu1277insPhePhePhePhe)
c.4104_4105insTTTTTTTTTTTT (p.Cys1368_Leu1369insPhePhePhePhe)
c.3921_3922insTTTTTTTTTTTT (p.Cys1307_Leu1308insPhePhePhePhe)
c.3807_3808insTTTTTTTTTTTT (p.Cys1269_Leu1270insPhePhePhePhe)
c.3198_3199insTTTTTTTTTTTT (p.Cys1066_Leu1067insPhePhePhePhe)
2g.47806789C>ACA346761640FBXO11,MSH6c.3715C>A (p.Leu1239Met)
c.3628C>A (p.Leu1210Met)
n.4686C>A
c.2446C>A (p.Leu816Met)
c.4018C>A (p.Leu1340Met)
c.1467C>A (n.1467C>A)
c.2785C>A (p.Leu929Met)
n.2990C>A
n.2607C>A
n.2274C>A
n.2676C>A
n.1421C>A
n.3306C>A
n.3959G>T
n.4221G>T
c.4012C>A (p.Leu1338Met)
c.3622C>A (p.Leu1208Met)
c.169+1406G>T (n.169+1406G>T)
c.*124+1205G>T (n.*124+1205G>T)
c.*3359C>A (n.*3359C>A)
n.3121G>T
c.3106C>A (p.Leu1036Met)
c.913C>A (p.Leu305Met)
c.3829C>A (p.Leu1277Met)
c.4105C>A (p.Leu1369Met)
c.3922C>A (p.Leu1308Met)
c.3808C>A (p.Leu1270Met)
c.3199C>A (p.Leu1067Met)
ClinVar dbSNP gnomAD v4
2g.47806789C=CA2496054539FBXO11,MSH6c.3715C= (p.Leu1239=)
c.3628C= (p.Leu1210=)
n.4686C=
c.2446C= (p.Leu816=)
c.4018C= (p.Leu1340=)
c.1467C= (n.1467C=)
c.2785C= (p.Leu929=)
n.2990C=
n.2607C=
n.2274C=
n.2676C=
n.1421C=
n.3306C=
n.3959G=
n.4221G=
c.4012C= (p.Leu1338=)
c.3622C= (p.Leu1208=)
c.169+1406G= (n.169+1406G=)
c.*124+1205G= (n.*124+1205G=)
c.*3359C= (n.*3359C=)
n.3121G=
c.3106C= (p.Leu1036=)
c.913C= (p.Leu305=)
c.3829C= (p.Leu1277=)
c.4105C= (p.Leu1369=)
c.3922C= (p.Leu1308=)
c.3808C= (p.Leu1270=)
c.3199C= (p.Leu1067=)
2g.47806789C>GCA346761641FBXO11,MSH6c.3715C>G (p.Leu1239Val)
c.3628C>G (p.Leu1210Val)
n.4686C>G
c.2446C>G (p.Leu816Val)
c.4018C>G (p.Leu1340Val)
c.1467C>G (n.1467C>G)
c.2785C>G (p.Leu929Val)
n.2990C>G
n.2607C>G
n.2274C>G
n.2676C>G
n.1421C>G
n.3306C>G
n.3959G>C
n.4221G>C
c.4012C>G (p.Leu1338Val)
c.3622C>G (p.Leu1208Val)
c.169+1406G>C (n.169+1406G>C)
c.*124+1205G>C (n.*124+1205G>C)
c.*3359C>G (n.*3359C>G)
n.3121G>C
c.3106C>G (p.Leu1036Val)
c.913C>G (p.Leu305Val)
c.3829C>G (p.Leu1277Val)
c.4105C>G (p.Leu1369Val)
c.3922C>G (p.Leu1308Val)
c.3808C>G (p.Leu1270Val)
c.3199C>G (p.Leu1067Val)
dbSNP
2g.47806789C>TCA16611189FBXO11,MSH6c.3715C>T (p.Leu1239=)
c.3628C>T (p.Leu1210=)
n.4686C>T
c.2446C>T (p.Leu816=)
c.4018C>T (p.Leu1340=)
c.1467C>T (n.1467C>T)
c.2785C>T (p.Leu929=)
n.2990C>T
n.2607C>T
n.2274C>T
n.2676C>T
n.1421C>T
n.3306C>T
n.3959G>A
n.4221G>A
c.4012C>T (p.Leu1338=)
c.3622C>T (p.Leu1208=)
c.169+1406G>A (n.169+1406G>A)
c.*124+1205G>A (n.*124+1205G>A)
c.*3359C>T (n.*3359C>T)
n.3121G>A
c.3106C>T (p.Leu1036=)
c.913C>T (p.Leu305=)
c.3829C>T (p.Leu1277=)
c.4105C>T (p.Leu1369=)
c.3922C>T (p.Leu1308=)
c.3808C>T (p.Leu1270=)
c.3199C>T (p.Leu1067=)
ClinVar dbSNP gnomAD v3 gnomAD v4
2g.47806792_47806810delCA891843287FBXO11,MSH6c.3718_3736del (p.Ala1240Ter)
c.3631_3649del (p.Ala1211Ter)
n.4689_4707del
c.2449_2467del (p.Ala817Ter)
c.4021_4039del (p.Ala1341Ter)
c.1470_1488del (n.1470_1488del)
c.2788_2806del (p.Ala930Ter)
n.2993_3011del
n.2610_2628del
n.2277_2295del
n.2679_2697del
n.1424_1442del
n.3309_3327del
n.3941_3959del
n.4203_4221del
c.4015_4033del (p.Ala1339Ter)
c.3625_3643del (p.Ala1209Ter)
c.169+1388_169+1406del (n.169+1388_169+1406del)
c.*124+1187_*124+1205del (n.*124+1187_*124+1205del)
c.*3362_*3380del (n.*3362_*3380del)
n.3103_3121del
c.3109_3127del (p.Ala1037Ter)
c.916_934del (p.Ala306Ter)
c.3832_3850del (p.Ala1278Ter)
c.4108_4126del (p.Ala1370Ter)
c.3925_3943del (p.Ala1309Ter)
c.3811_3829del (p.Ala1271Ter)
c.3202_3220del (p.Ala1068Ter)
ClinVar dbSNP
2g.47806790T>ACA346761642FBXO11,MSH6c.3716T>A (p.Leu1239Gln)
c.3629T>A (p.Leu1210Gln)
n.4687T>A
c.2447T>A (p.Leu816Gln)
c.4019T>A (p.Leu1340Gln)
c.1468T>A (n.1468T>A)
c.2786T>A (p.Leu929Gln)
n.2991T>A
n.2608T>A
n.2275T>A
n.2677T>A
n.1422T>A
n.3307T>A
n.3958A>T
n.4220A>T
c.4013T>A (p.Leu1338Gln)
c.3623T>A (p.Leu1208Gln)
c.169+1405A>T (n.169+1405A>T)
c.*124+1204A>T (n.*124+1204A>T)
c.*3360T>A (n.*3360T>A)
n.3120A>T
c.3107T>A (p.Leu1036Gln)
c.914T>A (p.Leu305Gln)
c.3830T>A (p.Leu1277Gln)
c.4106T>A (p.Leu1369Gln)
c.3923T>A (p.Leu1308Gln)
c.3809T>A (p.Leu1270Gln)
c.3200T>A (p.Leu1067Gln)
2g.47806790T>CCA346761644FBXO11,MSH6c.3716T>C (p.Leu1239Pro)
c.3629T>C (p.Leu1210Pro)
n.4687T>C
c.2447T>C (p.Leu816Pro)
c.4019T>C (p.Leu1340Pro)
c.1468T>C (n.1468T>C)
c.2786T>C (p.Leu929Pro)
n.2991T>C
n.2608T>C
n.2275T>C
n.2677T>C
n.1422T>C
n.3307T>C
n.3958A>G
n.4220A>G
c.4013T>C (p.Leu1338Pro)
c.3623T>C (p.Leu1208Pro)
c.169+1405A>G (n.169+1405A>G)
c.*124+1204A>G (n.*124+1204A>G)
c.*3360T>C (n.*3360T>C)
n.3120A>G
c.3107T>C (p.Leu1036Pro)
c.914T>C (p.Leu305Pro)
c.3830T>C (p.Leu1277Pro)
c.4106T>C (p.Leu1369Pro)
c.3923T>C (p.Leu1308Pro)
c.3809T>C (p.Leu1270Pro)
c.3200T>C (p.Leu1067Pro)
dbSNP gnomAD v4
2g.47806790T>GCA346761643FBXO11,MSH6c.3716T>G (p.Leu1239Arg)
c.3629T>G (p.Leu1210Arg)
n.4687T>G
c.2447T>G (p.Leu816Arg)
c.4019T>G (p.Leu1340Arg)
c.1468T>G (n.1468T>G)
c.2786T>G (p.Leu929Arg)
n.2991T>G
n.2608T>G
n.2275T>G
n.2677T>G
n.1422T>G
n.3307T>G
n.3958A>C
n.4220A>C
c.4013T>G (p.Leu1338Arg)
c.3623T>G (p.Leu1208Arg)
c.169+1405A>C (n.169+1405A>C)
c.*124+1204A>C (n.*124+1204A>C)
c.*3360T>G (n.*3360T>G)
n.3120A>C
c.3107T>G (p.Leu1036Arg)
c.914T>G (p.Leu305Arg)
c.3830T>G (p.Leu1277Arg)
c.4106T>G (p.Leu1369Arg)
c.3923T>G (p.Leu1308Arg)
c.3809T>G (p.Leu1270Arg)
c.3200T>G (p.Leu1067Arg)
2g.47806790T=CA2496054541FBXO11,MSH6c.3716T= (p.Leu1239=)
c.3629T= (p.Leu1210=)
n.4687T=
c.2447T= (p.Leu816=)
c.4019T= (p.Leu1340=)
c.1468T= (n.1468T=)
c.2786T= (p.Leu929=)
n.2991T=
n.2608T=
n.2275T=
n.2677T=
n.1422T=
n.3307T=
n.3958A=
n.4220A=
c.4013T= (p.Leu1338=)
c.3623T= (p.Leu1208=)
c.169+1405A= (n.169+1405A=)
c.*124+1204A= (n.*124+1204A=)
c.*3360T= (n.*3360T=)
n.3120A=
c.3107T= (p.Leu1036=)
c.914T= (p.Leu305=)
c.3830T= (p.Leu1277=)
c.4106T= (p.Leu1369=)
c.3923T= (p.Leu1308=)
c.3809T= (p.Leu1270=)
c.3200T= (p.Leu1067=)
2g.47806792_47806798dupCA2496054540FBXO11,MSH6c.3718_3724dup (p.Glu1242GlyfsTer2)
c.3631_3637dup (p.Glu1213GlyfsTer2)
n.4689_4695dup
c.2449_2455dup (p.Glu819GlyfsTer2)
c.4021_4027dup (p.Glu1343GlyfsTer2)
c.1470_1476dup (n.1470_1476dup)
c.2788_2794dup (p.Glu932GlyfsTer2)
n.2993_2999dup
n.2610_2616dup
n.2277_2283dup
n.2679_2685dup
n.1424_1430dup
n.3309_3315dup
n.3952_3958dup
n.4214_4220dup
c.4015_4021dup (p.Glu1341GlyfsTer2)
c.3625_3631dup (p.Glu1211GlyfsTer2)
c.169+1399_169+1405dup (n.169+1399_169+1405dup)
c.*124+1198_*124+1204dup (n.*124+1198_*124+1204dup)
c.*3362_*3368dup (n.*3362_*3368dup)
n.3114_3120dup
c.3109_3115dup (p.Glu1039GlyfsTer2)
c.916_922dup (p.Glu308GlyfsTer2)
c.3832_3838dup (p.Glu1280GlyfsTer2)
c.4108_4114dup (p.Glu1372GlyfsTer2)
c.3925_3931dup (p.Glu1311GlyfsTer2)
c.3811_3817dup (p.Glu1273GlyfsTer2)
c.3202_3208dup (p.Glu1070GlyfsTer2)
ClinVar dbSNP
2g.47806791G>ACA426122256FBXO11,MSH6c.3717G>A (p.Leu1239=)
c.3630G>A (p.Leu1210=)
n.4688G>A
c.2448G>A (p.Leu816=)
c.4020G>A (p.Leu1340=)
c.1469G>A (n.1469G>A)
c.2787G>A (p.Leu929=)
n.2992G>A
n.2609G>A
n.2276G>A
n.2678G>A
n.1423G>A
n.3308G>A
n.3957C>T
n.4219C>T
c.4014G>A (p.Leu1338=)
c.3624G>A (p.Leu1208=)
c.169+1404C>T (n.169+1404C>T)
c.*124+1203C>T (n.*124+1203C>T)
c.*3361G>A (n.*3361G>A)
n.3119C>T
c.3108G>A (p.Leu1036=)
c.915G>A (p.Leu305=)
c.3831G>A (p.Leu1277=)
c.4107G>A (p.Leu1369=)
c.3924G>A (p.Leu1308=)
c.3810G>A (p.Leu1270=)
c.3201G>A (p.Leu1067=)
ClinVar dbSNP
2g.47806791G>CCA10578175FBXO11,MSH6c.3717G>C (p.Leu1239=)
c.3630G>C (p.Leu1210=)
n.4688G>C
c.2448G>C (p.Leu816=)
c.4020G>C (p.Leu1340=)
c.1469G>C (n.1469G>C)
c.2787G>C (p.Leu929=)
n.2992G>C
n.2609G>C
n.2276G>C
n.2678G>C
n.1423G>C
n.3308G>C
n.3957C>G
n.4219C>G
c.4014G>C (p.Leu1338=)
c.3624G>C (p.Leu1208=)
c.169+1404C>G (n.169+1404C>G)
c.*124+1203C>G (n.*124+1203C>G)
c.*3361G>C (n.*3361G>C)
n.3119C>G
c.3108G>C (p.Leu1036=)
c.915G>C (p.Leu305=)
c.3831G>C (p.Leu1277=)
c.4107G>C (p.Leu1369=)
c.3924G>C (p.Leu1308=)
c.3810G>C (p.Leu1270=)
c.3201G>C (p.Leu1067=)
ClinVar dbSNP gnomAD v4
2g.47806791G=CA2496054542FBXO11,MSH6c.3717G= (p.Leu1239=)
c.3630G= (p.Leu1210=)
n.4688G=
c.2448G= (p.Leu816=)
c.4020G= (p.Leu1340=)
c.1469G= (n.1469G=)
c.2787G= (p.Leu929=)
n.2992G=
n.2609G=
n.2276G=
n.2678G=
n.1423G=
n.3308G=
n.3957C=
n.4219C=
c.4014G= (p.Leu1338=)
c.3624G= (p.Leu1208=)
c.169+1404C= (n.169+1404C=)
c.*124+1203C= (n.*124+1203C=)
c.*3361G= (n.*3361G=)
n.3119C=
c.3108G= (p.Leu1036=)
c.915G= (p.Leu305=)
c.3831G= (p.Leu1277=)
c.4107G= (p.Leu1369=)
c.3924G= (p.Leu1308=)
c.3810G= (p.Leu1270=)
c.3201G= (p.Leu1067=)
2g.47806791G>TCA426122257FBXO11,MSH6c.3717G>T (p.Leu1239=)
c.3630G>T (p.Leu1210=)
n.4688G>T
c.2448G>T (p.Leu816=)
c.4020G>T (p.Leu1340=)
c.1469G>T (n.1469G>T)
c.2787G>T (p.Leu929=)
n.2992G>T
n.2609G>T
n.2276G>T
n.2678G>T
n.1423G>T
n.3308G>T
n.3957C>A
n.4219C>A
c.4014G>T (p.Leu1338=)
c.3624G>T (p.Leu1208=)
c.169+1404C>A (n.169+1404C>A)
c.*124+1203C>A (n.*124+1203C>A)
c.*3361G>T (n.*3361G>T)
n.3119C>A
c.3108G>T (p.Leu1036=)
c.915G>T (p.Leu305=)
c.3831G>T (p.Leu1277=)
c.4107G>T (p.Leu1369=)
c.3924G>T (p.Leu1308=)
c.3810G>T (p.Leu1270=)
c.3201G>T (p.Leu1067=)
ClinVar dbSNP gnomAD v3 gnomAD v4
2g.47806792G>ACA346761645FBXO11,MSH6c.3718G>A (p.Ala1240Thr)
c.3631G>A (p.Ala1211Thr)
n.4689G>A
c.2449G>A (p.Ala817Thr)
c.4021G>A (p.Ala1341Thr)
c.1470G>A (n.1470G>A)
c.2788G>A (p.Ala930Thr)
n.2993G>A
n.2610G>A
n.2277G>A
n.2679G>A
n.1424G>A
n.3309G>A
n.3956C>T
n.4218C>T
c.4015G>A (p.Ala1339Thr)
c.3625G>A (p.Ala1209Thr)
c.169+1403C>T (n.169+1403C>T)
c.*124+1202C>T (n.*124+1202C>T)
c.*3362G>A (n.*3362G>A)
n.3118C>T
c.3109G>A (p.Ala1037Thr)
c.916G>A (p.Ala306Thr)
c.3832G>A (p.Ala1278Thr)
c.4108G>A (p.Ala1370Thr)
c.3925G>A (p.Ala1309Thr)
c.3811G>A (p.Ala1271Thr)
c.3202G>A (p.Ala1068Thr)
dbSNP
2g.47806792G>CCA346761646FBXO11,MSH6c.3718G>C (p.Ala1240Pro)
c.3631G>C (p.Ala1211Pro)
n.4689G>C
c.2449G>C (p.Ala817Pro)
c.4021G>C (p.Ala1341Pro)
c.1470G>C (n.1470G>C)
c.2788G>C (p.Ala930Pro)
n.2993G>C
n.2610G>C
n.2277G>C
n.2679G>C
n.1424G>C
n.3309G>C
n.3956C>G
n.4218C>G
c.4015G>C (p.Ala1339Pro)
c.3625G>C (p.Ala1209Pro)
c.169+1403C>G (n.169+1403C>G)
c.*124+1202C>G (n.*124+1202C>G)
c.*3362G>C (n.*3362G>C)
n.3118C>G
c.3109G>C (p.Ala1037Pro)
c.916G>C (p.Ala306Pro)
c.3832G>C (p.Ala1278Pro)
c.4108G>C (p.Ala1370Pro)
c.3925G>C (p.Ala1309Pro)
c.3811G>C (p.Ala1271Pro)
c.3202G>C (p.Ala1068Pro)
ClinVar dbSNP gnomAD v4
2g.47806792G=CA2496054544FBXO11,MSH6c.3718G= (p.Ala1240=)
c.3631G= (p.Ala1211=)
n.4689G=
c.2449G= (p.Ala817=)
c.4021G= (p.Ala1341=)
c.1470G= (n.1470G=)
c.2788G= (p.Ala930=)
n.2993G=
n.2610G=
n.2277G=
n.2679G=
n.1424G=
n.3309G=
n.3956C=
n.4218C=
c.4015G= (p.Ala1339=)
c.3625G= (p.Ala1209=)
c.169+1403C= (n.169+1403C=)
c.*124+1202C= (n.*124+1202C=)
c.*3362G= (n.*3362G=)
n.3118C=
c.3109G= (p.Ala1037=)
c.916G= (p.Ala306=)
c.3832G= (p.Ala1278=)
c.4108G= (p.Ala1370=)
c.3925G= (p.Ala1309=)
c.3811G= (p.Ala1271=)
c.3202G= (p.Ala1068=)
2g.47806792G>TCA346761647FBXO11,MSH6c.3718G>T (p.Ala1240Ser)
c.3631G>T (p.Ala1211Ser)
n.4689G>T
c.2449G>T (p.Ala817Ser)
c.4021G>T (p.Ala1341Ser)
c.1470G>T (n.1470G>T)
c.2788G>T (p.Ala930Ser)
n.2993G>T
n.2610G>T
n.2277G>T
n.2679G>T
n.1424G>T
n.3309G>T
n.3956C>A
n.4218C>A
c.4015G>T (p.Ala1339Ser)
c.3625G>T (p.Ala1209Ser)
c.169+1403C>A (n.169+1403C>A)
c.*124+1202C>A (n.*124+1202C>A)
c.*3362G>T (n.*3362G>T)
n.3118C>A
c.3109G>T (p.Ala1037Ser)
c.916G>T (p.Ala306Ser)
c.3832G>T (p.Ala1278Ser)
c.4108G>T (p.Ala1370Ser)
c.3925G>T (p.Ala1309Ser)
c.3811G>T (p.Ala1271Ser)
c.3202G>T (p.Ala1068Ser)
dbSNP
2g.47806792_47806800dupCA2496054543FBXO11,MSH6c.3718_3726dup (p.Glu1242_Arg1243insAlaSerGlu)
c.3631_3639dup (p.Glu1213_Arg1214insAlaSerGlu)
n.4689_4697dup
c.2449_2457dup (p.Glu819_Arg820insAlaSerGlu)
c.4021_4029dup (p.Glu1343_Arg1344insAlaSerGlu)
c.1470_1478dup (n.1470_1478dup)
c.2788_2796dup (p.Glu932_Arg933insAlaSerGlu)
n.2993_3001dup
n.2610_2618dup
n.2277_2285dup
n.2679_2687dup
n.1424_1432dup
n.3309_3317dup
n.3948_3956dup
n.4210_4218dup
c.4015_4023dup (p.Glu1341_Arg1342insAlaSerGlu)
c.3625_3633dup (p.Glu1211_Arg1212insAlaSerGlu)
c.169+1395_169+1403dup (n.169+1395_169+1403dup)
c.*124+1194_*124+1202dup (n.*124+1194_*124+1202dup)
c.*3362_*3370dup (n.*3362_*3370dup)
n.3110_3118dup
c.3109_3117dup (p.Glu1039_Arg1040insAlaSerGlu)
c.916_924dup (p.Glu308_Arg309insAlaSerGlu)
c.3832_3840dup (p.Glu1280_Arg1281insAlaSerGlu)
c.4108_4116dup (p.Glu1372_Arg1373insAlaSerGlu)
c.3925_3933dup (p.Glu1311_Arg1312insAlaSerGlu)
c.3811_3819dup (p.Glu1273_Arg1274insAlaSerGlu)
c.3202_3210dup (p.Glu1070_Arg1071insAlaSerGlu)
ClinVar dbSNP
2g.47806792_47806807delinsGCTAGTGAAAGGTCAACA2496054545FBXO11,MSH6c.3718_3733delinsGCTAGTGAAAGGTCAA (p.Ala1240=)
c.3631_3646delinsGCTAGTGAAAGGTCAA (p.Ala1211=)
n.4689_4704delinsGCTAGTGAAAGGTCAA
c.2449_2464delinsGCTAGTGAAAGGTCAA (p.Ala817=)
c.4021_4036delinsGCTAGTGAAAGGTCAA (p.Ala1341=)
c.1470_1485delinsGCTAGTGAAAGGTCAA (n.1470_1485delinsGCTAGTGAAAGGTCAA)
c.2788_2803delinsGCTAGTGAAAGGTCAA (p.Ala930=)
n.2993_3008delinsGCTAGTGAAAGGTCAA
n.2610_2625delinsGCTAGTGAAAGGTCAA
n.2277_2292delinsGCTAGTGAAAGGTCAA
n.2679_2694delinsGCTAGTGAAAGGTCAA
n.1424_1439delinsGCTAGTGAAAGGTCAA
n.3309_3324delinsGCTAGTGAAAGGTCAA
n.3941_3956delinsTTGACCTTTCACTAGC
n.4203_4218delinsTTGACCTTTCACTAGC
c.4015_4030delinsGCTAGTGAAAGGTCAA (p.Ala1339=)
c.3625_3640delinsGCTAGTGAAAGGTCAA (p.Ala1209=)
c.169+1388_169+1403delinsTTGACCTTTCACTAGC (n.169+1388_169+1403delinsTTGACCTTTCACTAGC)
c.*124+1187_*124+1202delinsTTGACCTTTCACTAGC (n.*124+1187_*124+1202delinsTTGACCTTTCACTAGC)
c.*3362_*3377delinsGCTAGTGAAAGGTCAA (n.*3362_*3377delinsGCTAGTGAAAGGTCAA)
n.3103_3118delinsTTGACCTTTCACTAGC
c.3109_3124delinsGCTAGTGAAAGGTCAA (p.Ala1037=)
c.916_931delinsGCTAGTGAAAGGTCAA (p.Ala306=)
c.3832_3847delinsGCTAGTGAAAGGTCAA (p.Ala1278=)
c.4108_4123delinsGCTAGTGAAAGGTCAA (p.Ala1370=)
c.3925_3940delinsGCTAGTGAAAGGTCAA (p.Ala1309=)
c.3811_3826delinsGCTAGTGAAAGGTCAA (p.Ala1271=)
c.3202_3217delinsGCTAGTGAAAGGTCAA (p.Ala1068=)
2g.47806793_47806845dupCA1139656994FBXO11,MSH6c.3719_3771dup (p.Ile1258LeufsTer7)
c.3632_3684dup (p.Ile1229LeufsTer7)
n.4690_4742dup
c.2450_2502dup (p.Ile835LeufsTer7)
c.4022_4074dup (p.Ile1359LeufsTer7)
c.1471_1523dup (n.1471_1523dup)
c.2789_2841dup (p.Ile948LeufsTer7)
n.2994_3046dup
n.2611_2663dup
n.2278_2330dup
n.2680_2732dup
n.1425_1477dup
n.3310_3362dup
n.3904_3956dup
n.4166_4218dup
c.4016_4068dup (p.Ile1357LeufsTer7)
c.3626_3678dup (p.Ile1227LeufsTer7)
c.169+1351_169+1403dup (n.169+1351_169+1403dup)
c.*124+1150_*124+1202dup (n.*124+1150_*124+1202dup)
c.*3363_*3415dup (n.*3363_*3415dup)
n.3066_3118dup
c.3110_3162dup (p.Ile1055LeufsTer7)
c.917_969dup (p.Ile324LeufsTer7)
c.3833_3885dup (p.Ile1296LeufsTer7)
c.4109_4161dup (p.Ile1388LeufsTer7)
c.3926_3978dup (p.Ile1327LeufsTer7)
c.3812_3864dup (p.Ile1289LeufsTer7)
c.3203_3255dup (p.Ile1086LeufsTer7)
ClinVar dbSNP gnomAD v4
2g.47806793C>ACA346761648FBXO11,MSH6c.3719C>A (p.Ala1240Asp)
c.3632C>A (p.Ala1211Asp)
n.4690C>A
c.2450C>A (p.Ala817Asp)
c.4022C>A (p.Ala1341Asp)
c.1471C>A (n.1471C>A)
c.2789C>A (p.Ala930Asp)
n.2994C>A
n.2611C>A
n.2278C>A
n.2680C>A
n.1425C>A
n.3310C>A
n.3955G>T
n.4217G>T
c.4016C>A (p.Ala1339Asp)
c.3626C>A (p.Ala1209Asp)
c.169+1402G>T (n.169+1402G>T)
c.*124+1201G>T (n.*124+1201G>T)
c.*3363C>A (n.*3363C>A)
n.3117G>T
c.3110C>A (p.Ala1037Asp)
c.917C>A (p.Ala306Asp)
c.3833C>A (p.Ala1278Asp)
c.4109C>A (p.Ala1370Asp)
c.3926C>A (p.Ala1309Asp)
c.3812C>A (p.Ala1271Asp)
c.3203C>A (p.Ala1068Asp)
dbSNP gnomAD v3 gnomAD v4
2g.47806793C=CA2496054546FBXO11,MSH6c.3719C= (p.Ala1240=)
c.3632C= (p.Ala1211=)
n.4690C=
c.2450C= (p.Ala817=)
c.4022C= (p.Ala1341=)
c.1471C= (n.1471C=)
c.2789C= (p.Ala930=)
n.2994C=
n.2611C=
n.2278C=
n.2680C=
n.1425C=
n.3310C=
n.3955G=
n.4217G=
c.4016C= (p.Ala1339=)
c.3626C= (p.Ala1209=)
c.169+1402G= (n.169+1402G=)
c.*124+1201G= (n.*124+1201G=)
c.*3363C= (n.*3363C=)
n.3117G=
c.3110C= (p.Ala1037=)
c.917C= (p.Ala306=)
c.3833C= (p.Ala1278=)
c.4109C= (p.Ala1370=)
c.3926C= (p.Ala1309=)
c.3812C= (p.Ala1271=)
c.3203C= (p.Ala1068=)
2g.47806793C>GCA072803FBXO11,MSH6c.3719C>G (p.Ala1240Gly)
c.3632C>G (p.Ala1211Gly)
n.4690C>G
c.2450C>G (p.Ala817Gly)
c.4022C>G (p.Ala1341Gly)
c.1471C>G (n.1471C>G)
c.2789C>G (p.Ala930Gly)
n.2994C>G
n.2611C>G
n.2278C>G
n.2680C>G
n.1425C>G
n.3310C>G
n.3955G>C
n.4217G>C
c.4016C>G (p.Ala1339Gly)
c.3626C>G (p.Ala1209Gly)
c.169+1402G>C (n.169+1402G>C)
c.*124+1201G>C (n.*124+1201G>C)
c.*3363C>G (n.*3363C>G)
n.3117G>C
c.3110C>G (p.Ala1037Gly)
c.917C>G (p.Ala306Gly)
c.3833C>G (p.Ala1278Gly)
c.4109C>G (p.Ala1370Gly)
c.3926C>G (p.Ala1309Gly)
c.3812C>G (p.Ala1271Gly)
c.3203C>G (p.Ala1068Gly)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.47806793C>TCA346761649FBXO11,MSH6c.3719C>T (p.Ala1240Val)
c.3632C>T (p.Ala1211Val)
n.4690C>T
c.2450C>T (p.Ala817Val)
c.4022C>T (p.Ala1341Val)
c.1471C>T (n.1471C>T)
c.2789C>T (p.Ala930Val)
n.2994C>T
n.2611C>T
n.2278C>T
n.2680C>T
n.1425C>T
n.3310C>T
n.3955G>A
n.4217G>A
c.4016C>T (p.Ala1339Val)
c.3626C>T (p.Ala1209Val)
c.169+1402G>A (n.169+1402G>A)
c.*124+1201G>A (n.*124+1201G>A)
c.*3363C>T (n.*3363C>T)
n.3117G>A
c.3110C>T (p.Ala1037Val)
c.917C>T (p.Ala306Val)
c.3833C>T (p.Ala1278Val)
c.4109C>T (p.Ala1370Val)
c.3926C>T (p.Ala1309Val)
c.3812C>T (p.Ala1271Val)
c.3203C>T (p.Ala1068Val)
ClinVar dbSNP gnomAD v3 gnomAD v4
2g.47806793dupCA16617725FBXO11,MSH6c.3719dup (p.Ser1241Ter)
c.3632dup (p.Ser1212Ter)
n.4690dup
c.2450dup (p.Ser818Ter)
c.4022dup (p.Ser1342Ter)
c.1471dup (n.1471dup)
c.2789dup (p.Ser931Ter)
n.2994dup
n.2611dup
n.2278dup
n.2680dup
n.1425dup
n.3310dup
n.3955dup
n.4217dup
c.4016dup (p.Ser1340Ter)
c.3626dup (p.Ser1210Ter)
c.169+1402dup (n.169+1402dup)
c.*124+1201dup (n.*124+1201dup)
c.*3363dup (n.*3363dup)
n.3117dup
c.3110dup (p.Ser1038Ter)
c.917dup (p.Ser307Ter)
c.3833dup (p.Ser1279Ter)
c.4109dup (p.Ser1371Ter)
c.3926dup (p.Ser1310Ter)
c.3812dup (p.Ser1272Ter)
c.3203dup (p.Ser1069Ter)
ClinVar dbSNP
2g.47806793_47806794dupCA10577298FBXO11,MSH6c.3719_3720dup (p.Ser1241LeufsTer7)
c.3632_3633dup (p.Ser1212LeufsTer7)
n.4690_4691dup
c.2450_2451dup (p.Ser818LeufsTer7)
c.4022_4023dup (p.Ser1342LeufsTer7)
c.1471_1472dup (n.1471_1472dup)
c.2789_2790dup (p.Ser931LeufsTer7)
n.2994_2995dup
n.2611_2612dup
n.2278_2279dup
n.2680_2681dup
n.1425_1426dup
n.3310_3311dup
n.3954_3955dup
n.4216_4217dup
c.4016_4017dup (p.Ser1340LeufsTer7)
c.3626_3627dup (p.Ser1210LeufsTer7)
c.169+1401_169+1402dup (n.169+1401_169+1402dup)
c.*124+1200_*124+1201dup (n.*124+1200_*124+1201dup)
c.*3363_*3364dup (n.*3363_*3364dup)
n.3116_3117dup
c.3110_3111dup (p.Ser1038LeufsTer7)
c.917_918dup (p.Ser307LeufsTer7)
c.3833_3834dup (p.Ser1279LeufsTer7)
c.4109_4110dup (p.Ser1371LeufsTer7)
c.3926_3927dup (p.Ser1310LeufsTer7)
c.3812_3813dup (p.Ser1272LeufsTer7)
c.3203_3204dup (p.Ser1069LeufsTer7)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.47806795_47806809delCA658795767FBXO11,MSH6c.3721_3735del (p.Ser1241_Thr1245del)
c.3634_3648del (p.Ser1212_Thr1216del)
n.4692_4706del
c.2452_2466del (p.Ser818_Thr822del)
c.4024_4038del (p.Ser1342_Thr1346del)
c.1473_1487del (n.1473_1487del)
c.2791_2805del (p.Ser931_Thr935del)
n.2996_3010del
n.2613_2627del
n.2280_2294del
n.2682_2696del
n.1427_1441del
n.3312_3326del
n.3941_3955del
n.4203_4217del
c.4018_4032del (p.Ser1340_Thr1344del)
c.3628_3642del (p.Ser1210_Thr1214del)
c.169+1388_169+1402del (n.169+1388_169+1402del)
c.*124+1187_*124+1201del (n.*124+1187_*124+1201del)
c.*3365_*3379del (n.*3365_*3379del)
n.3103_3117del
c.3112_3126del (p.Ser1038_Thr1042del)
c.919_933del (p.Ser307_Thr311del)
c.3835_3849del (p.Ser1279_Thr1283del)
c.4111_4125del (p.Ser1371_Thr1375del)
c.3928_3942del (p.Ser1310_Thr1314del)
c.3814_3828del (p.Ser1272_Thr1276del)
c.3205_3219del (p.Ser1069_Thr1073del)
ClinVar dbSNP
2g.47806793_47806823dupCA2658970391FBXO11,MSH6c.3719_3749dup (p.Val1251Ter)
c.3632_3662dup (p.Val1222Ter)
n.4690_4720dup
c.2450_2480dup (p.Val828Ter)
c.4022_4052dup (p.Val1352Ter)
c.1471_1501dup (n.1471_1501dup)
c.2789_2819dup (p.Val941Ter)
n.2994_3024dup
n.2611_2641dup
n.2278_2308dup
n.2680_2710dup
n.1425_1455dup
n.3310_3340dup
n.3925_3955dup
n.4187_4217dup
c.4016_4046dup (p.Val1350Ter)
c.3626_3656dup (p.Val1220Ter)
c.169+1372_169+1402dup (n.169+1372_169+1402dup)
c.*124+1171_*124+1201dup (n.*124+1171_*124+1201dup)
c.*3363_*3393dup (n.*3363_*3393dup)
n.3087_3117dup
c.3110_3140dup (p.Val1048Ter)
c.917_947dup (p.Val317Ter)
c.3833_3863dup (p.Val1289Ter)
c.4109_4139dup (p.Val1381Ter)
c.3926_3956dup (p.Val1320Ter)
c.3812_3842dup (p.Val1282Ter)
c.3203_3233dup (p.Val1079Ter)
gnomAD v4
2g.47806794T>ACA426122258FBXO11,MSH6c.3720T>A (p.Ala1240=)
c.3633T>A (p.Ala1211=)
n.4691T>A
c.2451T>A (p.Ala817=)
c.4023T>A (p.Ala1341=)
c.1472T>A (n.1472T>A)
c.2790T>A (p.Ala930=)
n.2995T>A
n.2612T>A
n.2279T>A
n.2681T>A
n.1426T>A
n.3311T>A
n.3954A>T
n.4216A>T
c.4017T>A (p.Ala1339=)
c.3627T>A (p.Ala1209=)
c.169+1401A>T (n.169+1401A>T)
c.*124+1200A>T (n.*124+1200A>T)
c.*3364T>A (n.*3364T>A)
n.3116A>T
c.3111T>A (p.Ala1037=)
c.918T>A (p.Ala306=)
c.3834T>A (p.Ala1278=)
c.4110T>A (p.Ala1370=)
c.3927T>A (p.Ala1309=)
c.3813T>A (p.Ala1271=)
c.3204T>A (p.Ala1068=)
dbSNP
2g.47806794T>CCA426122259FBXO11,MSH6c.3720T>C (p.Ala1240=)
c.3633T>C (p.Ala1211=)
n.4691T>C
c.2451T>C (p.Ala817=)
c.4023T>C (p.Ala1341=)
c.1472T>C (n.1472T>C)
c.2790T>C (p.Ala930=)
n.2995T>C
n.2612T>C
n.2279T>C
n.2681T>C
n.1426T>C
n.3311T>C
n.3954A>G
n.4216A>G
c.4017T>C (p.Ala1339=)
c.3627T>C (p.Ala1209=)
c.169+1401A>G (n.169+1401A>G)
c.*124+1200A>G (n.*124+1200A>G)
c.*3364T>C (n.*3364T>C)
n.3116A>G
c.3111T>C (p.Ala1037=)
c.918T>C (p.Ala306=)
c.3834T>C (p.Ala1278=)
c.4110T>C (p.Ala1370=)
c.3927T>C (p.Ala1309=)
c.3813T>C (p.Ala1271=)
c.3204T>C (p.Ala1068=)
ClinVar
2g.47806794T>GCA426122260FBXO11,MSH6c.3720T>G (p.Ala1240=)
c.3633T>G (p.Ala1211=)
n.4691T>G
c.2451T>G (p.Ala817=)
c.4023T>G (p.Ala1341=)
c.1472T>G (n.1472T>G)
c.2790T>G (p.Ala930=)
n.2995T>G
n.2612T>G
n.2279T>G
n.2681T>G
n.1426T>G
n.3311T>G
n.3954A>C
n.4216A>C
c.4017T>G (p.Ala1339=)
c.3627T>G (p.Ala1209=)
c.169+1401A>C (n.169+1401A>C)
c.*124+1200A>C (n.*124+1200A>C)
c.*3364T>G (n.*3364T>G)
n.3116A>C
c.3111T>G (p.Ala1037=)
c.918T>G (p.Ala306=)
c.3834T>G (p.Ala1278=)
c.4110T>G (p.Ala1370=)
c.3927T>G (p.Ala1309=)
c.3813T>G (p.Ala1271=)
c.3204T>G (p.Ala1068=)
2g.47806795A=CA2496054547FBXO11,MSH6c.3721A= (p.Ser1241=)
c.3634A= (p.Ser1212=)
n.4692A=
c.2452A= (p.Ser818=)
c.4024A= (p.Ser1342=)
c.1473A= (n.1473A=)
c.2791A= (p.Ser931=)
n.2996A=
n.2613A=
n.2280A=
n.2682A=
n.1427A=
n.3312A=
n.3953T=
n.4215T=
c.4018A= (p.Ser1340=)
c.3628A= (p.Ser1210=)
c.169+1400T= (n.169+1400T=)
c.*124+1199T= (n.*124+1199T=)
c.*3365A= (n.*3365A=)
n.3115T=
c.3112A= (p.Ser1038=)
c.919A= (p.Ser307=)
c.3835A= (p.Ser1279=)
c.4111A= (p.Ser1371=)
c.3928A= (p.Ser1310=)
c.3814A= (p.Ser1272=)
c.3205A= (p.Ser1069=)
2g.47806795A>CCA346761650FBXO11,MSH6c.3721A>C (p.Ser1241Arg)
c.3634A>C (p.Ser1212Arg)
n.4692A>C
c.2452A>C (p.Ser818Arg)
c.4024A>C (p.Ser1342Arg)
c.1473A>C (n.1473A>C)
c.2791A>C (p.Ser931Arg)
n.2996A>C
n.2613A>C
n.2280A>C
n.2682A>C
n.1427A>C
n.3312A>C
n.3953T>G
n.4215T>G
c.4018A>C (p.Ser1340Arg)
c.3628A>C (p.Ser1210Arg)
c.169+1400T>G (n.169+1400T>G)
c.*124+1199T>G (n.*124+1199T>G)
c.*3365A>C (n.*3365A>C)
n.3115T>G
c.3112A>C (p.Ser1038Arg)
c.919A>C (p.Ser307Arg)
c.3835A>C (p.Ser1279Arg)
c.4111A>C (p.Ser1371Arg)
c.3928A>C (p.Ser1310Arg)
c.3814A>C (p.Ser1272Arg)
c.3205A>C (p.Ser1069Arg)
2g.47806795A>GCA346761651FBXO11,MSH6c.3721A>G (p.Ser1241Gly)
c.3634A>G (p.Ser1212Gly)
n.4692A>G
c.2452A>G (p.Ser818Gly)
c.4024A>G (p.Ser1342Gly)
c.1473A>G (n.1473A>G)
c.2791A>G (p.Ser931Gly)
n.2996A>G
n.2613A>G
n.2280A>G
n.2682A>G
n.1427A>G
n.3312A>G
n.3953T>C
n.4215T>C
c.4018A>G (p.Ser1340Gly)
c.3628A>G (p.Ser1210Gly)
c.169+1400T>C (n.169+1400T>C)
c.*124+1199T>C (n.*124+1199T>C)
c.*3365A>G (n.*3365A>G)
n.3115T>C
c.3112A>G (p.Ser1038Gly)
c.919A>G (p.Ser307Gly)
c.3835A>G (p.Ser1279Gly)
c.4111A>G (p.Ser1371Gly)
c.3928A>G (p.Ser1310Gly)
c.3814A>G (p.Ser1272Gly)
c.3205A>G (p.Ser1069Gly)
ClinVar dbSNP
2g.47806795A>TCA346761652FBXO11,MSH6c.3721A>T (p.Ser1241Cys)
c.3634A>T (p.Ser1212Cys)
n.4692A>T
c.2452A>T (p.Ser818Cys)
c.4024A>T (p.Ser1342Cys)
c.1473A>T (n.1473A>T)
c.2791A>T (p.Ser931Cys)
n.2996A>T
n.2613A>T
n.2280A>T
n.2682A>T
n.1427A>T
n.3312A>T
n.3953T>A
n.4215T>A
c.4018A>T (p.Ser1340Cys)
c.3628A>T (p.Ser1210Cys)
c.169+1400T>A (n.169+1400T>A)
c.*124+1199T>A (n.*124+1199T>A)
c.*3365A>T (n.*3365A>T)
n.3115T>A
c.3112A>T (p.Ser1038Cys)
c.919A>T (p.Ser307Cys)
c.3835A>T (p.Ser1279Cys)
c.4111A>T (p.Ser1371Cys)
c.3928A>T (p.Ser1310Cys)
c.3814A>T (p.Ser1272Cys)
c.3205A>T (p.Ser1069Cys)
dbSNP
2g.47806796G>ACA346761653FBXO11,MSH6c.3722G>A (p.Ser1241Asn)
c.3635G>A (p.Ser1212Asn)
n.4693G>A
c.2453G>A (p.Ser818Asn)
c.4025G>A (p.Ser1342Asn)
c.1474G>A (n.1474G>A)
c.2792G>A (p.Ser931Asn)
n.2997G>A
n.2614G>A
n.2281G>A
n.2683G>A
n.1428G>A
n.3313G>A
n.3952C>T
n.4214C>T
c.4019G>A (p.Ser1340Asn)
c.3629G>A (p.Ser1210Asn)
c.169+1399C>T (n.169+1399C>T)
c.*124+1198C>T (n.*124+1198C>T)
c.*3366G>A (n.*3366G>A)
n.3114C>T
c.3113G>A (p.Ser1038Asn)
c.920G>A (p.Ser307Asn)
c.3836G>A (p.Ser1279Asn)
c.4112G>A (p.Ser1371Asn)
c.3929G>A (p.Ser1310Asn)
c.3815G>A (p.Ser1272Asn)
c.3206G>A (p.Ser1069Asn)
dbSNP
2g.47806796G>CCA346761654FBXO11,MSH6c.3722G>C (p.Ser1241Thr)
c.3635G>C (p.Ser1212Thr)
n.4693G>C
c.2453G>C (p.Ser818Thr)
c.4025G>C (p.Ser1342Thr)
c.1474G>C (n.1474G>C)
c.2792G>C (p.Ser931Thr)
n.2997G>C
n.2614G>C
n.2281G>C
n.2683G>C
n.1428G>C
n.3313G>C
n.3952C>G
n.4214C>G
c.4019G>C (p.Ser1340Thr)
c.3629G>C (p.Ser1210Thr)
c.169+1399C>G (n.169+1399C>G)
c.*124+1198C>G (n.*124+1198C>G)
c.*3366G>C (n.*3366G>C)
n.3114C>G
c.3113G>C (p.Ser1038Thr)
c.920G>C (p.Ser307Thr)
c.3836G>C (p.Ser1279Thr)
c.4112G>C (p.Ser1371Thr)
c.3929G>C (p.Ser1310Thr)
c.3815G>C (p.Ser1272Thr)
c.3206G>C (p.Ser1069Thr)
dbSNP gnomAD v4
2g.47806796G>TCA346761655FBXO11,MSH6c.3722G>T (p.Ser1241Ile)
c.3635G>T (p.Ser1212Ile)
n.4693G>T
c.2453G>T (p.Ser818Ile)
c.4025G>T (p.Ser1342Ile)
c.1474G>T (n.1474G>T)
c.2792G>T (p.Ser931Ile)
n.2997G>T
n.2614G>T
n.2281G>T
n.2683G>T
n.1428G>T
n.3313G>T
n.3952C>A
n.4214C>A
c.4019G>T (p.Ser1340Ile)
c.3629G>T (p.Ser1210Ile)
c.169+1399C>A (n.169+1399C>A)
c.*124+1198C>A (n.*124+1198C>A)
c.*3366G>T (n.*3366G>T)
n.3114C>A
c.3113G>T (p.Ser1038Ile)
c.920G>T (p.Ser307Ile)
c.3836G>T (p.Ser1279Ile)
c.4112G>T (p.Ser1371Ile)
c.3929G>T (p.Ser1310Ile)
c.3815G>T (p.Ser1272Ile)
c.3206G>T (p.Ser1069Ile)
ClinVar dbSNP gnomAD v4
2g.47806798_47806804delCA2580067591FBXO11,MSH6c.3724_3730del (p.Glu1242GlnfsTer3)
c.3637_3643del (p.Glu1213GlnfsTer3)
n.4695_4701del
c.2455_2461del (p.Glu819GlnfsTer3)
c.4027_4033del (p.Glu1343GlnfsTer3)
c.1476_1482del (n.1476_1482del)
c.2794_2800del (p.Glu932GlnfsTer3)
n.2999_3005del
n.2616_2622del
n.2283_2289del
n.2685_2691del
n.1430_1436del
n.3315_3321del
n.3946_3952del
n.4208_4214del
c.4021_4027del (p.Glu1341GlnfsTer3)
c.3631_3637del (p.Glu1211GlnfsTer3)
c.169+1393_169+1399del (n.169+1393_169+1399del)
c.*124+1192_*124+1198del (n.*124+1192_*124+1198del)
c.*3368_*3374del (n.*3368_*3374del)
n.3108_3114del
c.3115_3121del (p.Glu1039GlnfsTer3)
c.922_928del (p.Glu308GlnfsTer3)
c.3838_3844del (p.Glu1280GlnfsTer3)
c.4114_4120del (p.Glu1372GlnfsTer3)
c.3931_3937del (p.Glu1311GlnfsTer3)
c.3817_3823del (p.Glu1273GlnfsTer3)
c.3208_3214del (p.Glu1070GlnfsTer3)
ClinVar
2g.47806796_47806814delinsGTGAAAGGTCAACTGTAGACA2496054549FBXO11,MSH6c.3722_3740delinsGTGAAAGGTCAACTGTAGA (p.Ser1241=)
c.3635_3653delinsGTGAAAGGTCAACTGTAGA (p.Ser1212=)
n.4693_4711delinsGTGAAAGGTCAACTGTAGA
c.2453_2471delinsGTGAAAGGTCAACTGTAGA (p.Ser818=)
c.4025_4043delinsGTGAAAGGTCAACTGTAGA (p.Ser1342=)
c.1474_1492delinsGTGAAAGGTCAACTGTAGA (n.1474_1492delinsGTGAAAGGTCAACTGTAGA)
c.2792_2810delinsGTGAAAGGTCAACTGTAGA (p.Ser931=)
n.2997_3015delinsGTGAAAGGTCAACTGTAGA
n.2614_2632delinsGTGAAAGGTCAACTGTAGA
n.2281_2299delinsGTGAAAGGTCAACTGTAGA
n.2683_2701delinsGTGAAAGGTCAACTGTAGA
n.1428_1446delinsGTGAAAGGTCAACTGTAGA
n.3313_3331delinsGTGAAAGGTCAACTGTAGA
n.3934_3952delinsTCTACAGTTGACCTTTCAC
n.4196_4214delinsTCTACAGTTGACCTTTCAC
c.4019_4037delinsGTGAAAGGTCAACTGTAGA (p.Ser1340=)
c.3629_3647delinsGTGAAAGGTCAACTGTAGA (p.Ser1210=)
c.169+1381_169+1399delinsTCTACAGTTGACCTTTCAC (n.169+1381_169+1399delinsTCTACAGTTGACCTTTCAC)
c.*124+1180_*124+1198delinsTCTACAGTTGACCTTTCAC (n.*124+1180_*124+1198delinsTCTACAGTTGACCTTTCAC)
c.*3366_*3384delinsGTGAAAGGTCAACTGTAGA (n.*3366_*3384delinsGTGAAAGGTCAACTGTAGA)
n.3096_3114delinsTCTACAGTTGACCTTTCAC
c.3113_3131delinsGTGAAAGGTCAACTGTAGA (p.Ser1038=)
c.920_938delinsGTGAAAGGTCAACTGTAGA (p.Ser307=)
c.3836_3854delinsGTGAAAGGTCAACTGTAGA (p.Ser1279=)
c.4112_4130delinsGTGAAAGGTCAACTGTAGA (p.Ser1371=)
c.3929_3947delinsGTGAAAGGTCAACTGTAGA (p.Ser1310=)
c.3815_3833delinsGTGAAAGGTCAACTGTAGA (p.Ser1272=)
c.3206_3224delinsGTGAAAGGTCAACTGTAGA (p.Ser1069=)
2g.47806796_47806817delinsGTGAAAGGTCAACTGTAGATGCCA2496054548FBXO11,MSH6c.3722_3743delinsGTGAAAGGTCAACTGTAGATGC (p.Ser1241=)
c.3635_3656delinsGTGAAAGGTCAACTGTAGATGC (p.Ser1212=)
n.4693_4714delinsGTGAAAGGTCAACTGTAGATGC
c.2453_2474delinsGTGAAAGGTCAACTGTAGATGC (p.Ser818=)
c.4025_4046delinsGTGAAAGGTCAACTGTAGATGC (p.Ser1342=)
c.1474_1495delinsGTGAAAGGTCAACTGTAGATGC (n.1474_1495delinsGTGAAAGGTCAACTGTAGATGC)
c.2792_2813delinsGTGAAAGGTCAACTGTAGATGC (p.Ser931=)
n.2997_3018delinsGTGAAAGGTCAACTGTAGATGC
n.2614_2635delinsGTGAAAGGTCAACTGTAGATGC
n.2281_2302delinsGTGAAAGGTCAACTGTAGATGC
n.2683_2704delinsGTGAAAGGTCAACTGTAGATGC
n.1428_1449delinsGTGAAAGGTCAACTGTAGATGC
n.3313_3334delinsGTGAAAGGTCAACTGTAGATGC
n.3931_3952delinsGCATCTACAGTTGACCTTTCAC
n.4193_4214delinsGCATCTACAGTTGACCTTTCAC
c.4019_4040delinsGTGAAAGGTCAACTGTAGATGC (p.Ser1340=)
c.3629_3650delinsGTGAAAGGTCAACTGTAGATGC (p.Ser1210=)
c.169+1378_169+1399delinsGCATCTACAGTTGACCTTTCAC (n.169+1378_169+1399delinsGCATCTACAGTTGACCTTTCAC)
c.*124+1177_*124+1198delinsGCATCTACAGTTGACCTTTCAC (n.*124+1177_*124+1198delinsGCATCTACAGTTGACCTTTCAC)
c.*3366_*3387delinsGTGAAAGGTCAACTGTAGATGC (n.*3366_*3387delinsGTGAAAGGTCAACTGTAGATGC)
n.3093_3114delinsGCATCTACAGTTGACCTTTCAC
c.3113_3134delinsGTGAAAGGTCAACTGTAGATGC (p.Ser1038=)
c.920_941delinsGTGAAAGGTCAACTGTAGATGC (p.Ser307=)
c.3836_3857delinsGTGAAAGGTCAACTGTAGATGC (p.Ser1279=)
c.4112_4133delinsGTGAAAGGTCAACTGTAGATGC (p.Ser1371=)
c.3929_3950delinsGTGAAAGGTCAACTGTAGATGC (p.Ser1310=)
c.3815_3836delinsGTGAAAGGTCAACTGTAGATGC (p.Ser1272=)
c.3206_3227delinsGTGAAAGGTCAACTGTAGATGC (p.Ser1069=)
2g.47806798_47806826delCA2658970401FBXO11,MSH6c.3724_3752del (p.Glu1242ProfsTer2)
c.3637_3665del (p.Glu1213ProfsTer2)
n.4695_4723del
c.2455_2483del (p.Glu819ProfsTer2)
c.4027_4055del (p.Glu1343ProfsTer2)
c.1476_1504del (n.1476_1504del)
c.2794_2822del (p.Glu932ProfsTer2)
n.2999_3027del
n.2616_2644del
n.2283_2311del
n.2685_2713del
n.1430_1458del
n.3315_3343del
n.3924_3952del
n.4186_4214del
c.4021_4049del (p.Glu1341ProfsTer2)
c.3631_3659del (p.Glu1211ProfsTer2)
c.169+1371_169+1399del (n.169+1371_169+1399del)
c.*124+1170_*124+1198del (n.*124+1170_*124+1198del)
c.*3368_*3396del (n.*3368_*3396del)
n.3086_3114del
c.3115_3143del (p.Glu1039ProfsTer2)
c.922_950del (p.Glu308ProfsTer2)
c.3838_3866del (p.Glu1280ProfsTer2)
c.4114_4142del (p.Glu1372ProfsTer2)
c.3931_3959del (p.Glu1311ProfsTer2)
c.3817_3845del (p.Glu1273ProfsTer2)
c.3208_3236del (p.Glu1070ProfsTer2)
gnomAD v4
2g.47806797T>ACA346761656FBXO11,MSH6c.3723T>A (p.Ser1241Arg)
c.3636T>A (p.Ser1212Arg)
n.4694T>A
c.2454T>A (p.Ser818Arg)
c.4026T>A (p.Ser1342Arg)
c.1475T>A (n.1475T>A)
c.2793T>A (p.Ser931Arg)
n.2998T>A
n.2615T>A
n.2282T>A
n.2684T>A
n.1429T>A
n.3314T>A
n.3951A>T
n.4213A>T
c.4020T>A (p.Ser1340Arg)
c.3630T>A (p.Ser1210Arg)
c.169+1398A>T (n.169+1398A>T)
c.*124+1197A>T (n.*124+1197A>T)
c.*3367T>A (n.*3367T>A)
n.3113A>T
c.3114T>A (p.Ser1038Arg)
c.921T>A (p.Ser307Arg)
c.3837T>A (p.Ser1279Arg)
c.4113T>A (p.Ser1371Arg)
c.3930T>A (p.Ser1310Arg)
c.3816T>A (p.Ser1272Arg)
c.3207T>A (p.Ser1069Arg)
2g.47806797T>CCA426122261FBXO11,MSH6c.3723T>C (p.Ser1241=)
c.3636T>C (p.Ser1212=)
n.4694T>C
c.2454T>C (p.Ser818=)
c.4026T>C (p.Ser1342=)
c.1475T>C (n.1475T>C)
c.2793T>C (p.Ser931=)
n.2998T>C
n.2615T>C
n.2282T>C
n.2684T>C
n.1429T>C
n.3314T>C
n.3951A>G
n.4213A>G
c.4020T>C (p.Ser1340=)
c.3630T>C (p.Ser1210=)
c.169+1398A>G (n.169+1398A>G)
c.*124+1197A>G (n.*124+1197A>G)
c.*3367T>C (n.*3367T>C)
n.3113A>G
c.3114T>C (p.Ser1038=)
c.921T>C (p.Ser307=)
c.3837T>C (p.Ser1279=)
c.4113T>C (p.Ser1371=)
c.3930T>C (p.Ser1310=)
c.3816T>C (p.Ser1272=)
c.3207T>C (p.Ser1069=)
ClinVar dbSNP
2g.47806797T>GCA346761657FBXO11,MSH6c.3723T>G (p.Ser1241Arg)
c.3636T>G (p.Ser1212Arg)
n.4694T>G
c.2454T>G (p.Ser818Arg)
c.4026T>G (p.Ser1342Arg)
c.1475T>G (n.1475T>G)
c.2793T>G (p.Ser931Arg)
n.2998T>G
n.2615T>G
n.2282T>G
n.2684T>G
n.1429T>G
n.3314T>G
n.3951A>C
n.4213A>C
c.4020T>G (p.Ser1340Arg)
c.3630T>G (p.Ser1210Arg)
c.169+1398A>C (n.169+1398A>C)
c.*124+1197A>C (n.*124+1197A>C)
c.*3367T>G (n.*3367T>G)
n.3113A>C
c.3114T>G (p.Ser1038Arg)
c.921T>G (p.Ser307Arg)
c.3837T>G (p.Ser1279Arg)
c.4113T>G (p.Ser1371Arg)
c.3930T>G (p.Ser1310Arg)
c.3816T>G (p.Ser1272Arg)
c.3207T>G (p.Ser1069Arg)
ClinVar dbSNP gnomAD v4
2g.47806797T=CA2496054550FBXO11,MSH6c.3723T= (p.Ser1241=)
c.3636T= (p.Ser1212=)
n.4694T=
c.2454T= (p.Ser818=)
c.4026T= (p.Ser1342=)
c.1475T= (n.1475T=)
c.2793T= (p.Ser931=)
n.2998T=
n.2615T=
n.2282T=
n.2684T=
n.1429T=
n.3314T=
n.3951A=
n.4213A=
c.4020T= (p.Ser1340=)
c.3630T= (p.Ser1210=)
c.169+1398A= (n.169+1398A=)
c.*124+1197A= (n.*124+1197A=)
c.*3367T= (n.*3367T=)
n.3113A=
c.3114T= (p.Ser1038=)
c.921T= (p.Ser307=)
c.3837T= (p.Ser1279=)
c.4113T= (p.Ser1371=)
c.3930T= (p.Ser1310=)
c.3816T= (p.Ser1272=)
c.3207T= (p.Ser1069=)
2g.47806797_47806807dupCA2579753930FBXO11,MSH6c.3723_3733dup (p.Thr1245MetfsTer6)
c.3636_3646dup (p.Thr1216MetfsTer6)
n.4694_4704dup
c.2454_2464dup (p.Thr822MetfsTer6)
c.4026_4036dup (p.Thr1346MetfsTer6)
c.1475_1485dup (n.1475_1485dup)
c.2793_2803dup (p.Thr935MetfsTer6)
n.2998_3008dup
n.2615_2625dup
n.2282_2292dup
n.2684_2694dup
n.1429_1439dup
n.3314_3324dup
n.3941_3951dup
n.4203_4213dup
c.4020_4030dup (p.Thr1344MetfsTer6)
c.3630_3640dup (p.Thr1214MetfsTer6)
c.169+1388_169+1398dup (n.169+1388_169+1398dup)
c.*124+1187_*124+1197dup (n.*124+1187_*124+1197dup)
c.*3367_*3377dup (n.*3367_*3377dup)
n.3103_3113dup
c.3114_3124dup (p.Thr1042MetfsTer6)
c.921_931dup (p.Thr311MetfsTer6)
c.3837_3847dup (p.Thr1283MetfsTer6)
c.4113_4123dup (p.Thr1375MetfsTer6)
c.3930_3940dup (p.Thr1314MetfsTer6)
c.3816_3826dup (p.Thr1276MetfsTer6)
c.3207_3217dup (p.Thr1073MetfsTer6)
2g.47806799_47806816delCA913188078FBXO11,MSH6c.3725_3742del (p.Glu1242_Asp1247del)
c.3638_3655del (p.Glu1213_Asp1218del)
n.4696_4713del
c.2456_2473del (p.Glu819_Asp824del)
c.4028_4045del (p.Glu1343_Asp1348del)
c.1477_1494del (n.1477_1494del)
c.2795_2812del (p.Glu932_Asp937del)
n.3000_3017del
n.2617_2634del
n.2284_2301del
n.2686_2703del
n.1431_1448del
n.3316_3333del
n.3934_3951del
n.4196_4213del
c.4022_4039del (p.Glu1341_Asp1346del)
c.3632_3649del (p.Glu1211_Asp1216del)
c.169+1381_169+1398del (n.169+1381_169+1398del)
c.*124+1180_*124+1197del (n.*124+1180_*124+1197del)
c.*3369_*3386del (n.*3369_*3386del)
n.3096_3113del
c.3116_3133del (p.Glu1039_Asp1044del)
c.923_940del (p.Glu308_Asp313del)
c.3839_3856del (p.Glu1280_Asp1285del)
c.4115_4132del (p.Glu1372_Asp1377del)
c.3932_3949del (p.Glu1311_Asp1316del)
c.3818_3835del (p.Glu1273_Asp1278del)
c.3209_3226del (p.Glu1070_Asp1075del)
ClinVar dbSNP
2g.47806801_47806821dupCA913188077FBXO11,MSH6c.3727_3747dup (p.Glu1249_Ala1250insArgSerThrValAspAlaGlu)
c.3640_3660dup (p.Glu1220_Ala1221insArgSerThrValAspAlaGlu)
n.4698_4718dup
c.2458_2478dup (p.Glu826_Ala827insArgSerThrValAspAlaGlu)
c.4030_4050dup (p.Glu1350_Ala1351insArgSerThrValAspAlaGlu)
c.1479_1499dup (n.1479_1499dup)
c.2797_2817dup (p.Glu939_Ala940insArgSerThrValAspAlaGlu)
n.3002_3022dup
n.2619_2639dup
n.2286_2306dup
n.2688_2708dup
n.1433_1453dup
n.3318_3338dup
n.3931_3951dup
n.4193_4213dup
c.4024_4044dup (p.Glu1348_Ala1349insArgSerThrValAspAlaGlu)
c.3634_3654dup (p.Glu1218_Ala1219insArgSerThrValAspAlaGlu)
c.169+1378_169+1398dup (n.169+1378_169+1398dup)
c.*124+1177_*124+1197dup (n.*124+1177_*124+1197dup)
c.*3371_*3391dup (n.*3371_*3391dup)
n.3093_3113dup
c.3118_3138dup (p.Glu1046_Ala1047insArgSerThrValAspAlaGlu)
c.925_945dup (p.Glu315_Ala316insArgSerThrValAspAlaGlu)
c.3841_3861dup (p.Glu1287_Ala1288insArgSerThrValAspAlaGlu)
c.4117_4137dup (p.Glu1379_Ala1380insArgSerThrValAspAlaGlu)
c.3934_3954dup (p.Glu1318_Ala1319insArgSerThrValAspAlaGlu)
c.3820_3840dup (p.Glu1280_Ala1281insArgSerThrValAspAlaGlu)
c.3211_3231dup (p.Glu1077_Ala1078insArgSerThrValAspAlaGlu)
ClinVar dbSNP gnomAD v4
2g.47806801_47806821delCA16611190FBXO11,MSH6c.3727_3747del (p.Arg1243_Glu1249del)
c.3640_3660del (p.Arg1214_Glu1220del)
n.4698_4718del
c.2458_2478del (p.Arg820_Glu826del)
c.4030_4050del (p.Arg1344_Glu1350del)
c.1479_1499del (n.1479_1499del)
c.2797_2817del (p.Arg933_Glu939del)
n.3002_3022del
n.2619_2639del
n.2286_2306del
n.2688_2708del
n.1433_1453del
n.3318_3338del
n.3931_3951del
n.4193_4213del
c.4024_4044del (p.Arg1342_Glu1348del)
c.3634_3654del (p.Arg1212_Glu1218del)
c.169+1378_169+1398del (n.169+1378_169+1398del)
c.*124+1177_*124+1197del (n.*124+1177_*124+1197del)
c.*3371_*3391del (n.*3371_*3391del)
n.3093_3113del
c.3118_3138del (p.Arg1040_Glu1046del)
c.925_945del (p.Arg309_Glu315del)
c.3841_3861del (p.Arg1281_Glu1287del)
c.4117_4137del (p.Arg1373_Glu1379del)
c.3934_3954del (p.Arg1312_Glu1318del)
c.3820_3840del (p.Arg1274_Glu1280del)
c.3211_3231del (p.Arg1071_Glu1077del)
ClinVar dbSNP
2g.47806798G>ACA16621983FBXO11,MSH6c.3724G>A (p.Glu1242Lys)
c.3637G>A (p.Glu1213Lys)
n.4695G>A
c.2455G>A (p.Glu819Lys)
c.4027G>A (p.Glu1343Lys)
c.1476G>A (n.1476G>A)
c.2794G>A (p.Glu932Lys)
n.2999G>A
n.2616G>A
n.2283G>A
n.2685G>A
n.1430G>A
n.3315G>A
n.3950C>T
n.4212C>T
c.4021G>A (p.Glu1341Lys)
c.3631G>A (p.Glu1211Lys)
c.169+1397C>T (n.169+1397C>T)
c.*124+1196C>T (n.*124+1196C>T)
c.*3368G>A (n.*3368G>A)
n.3112C>T
c.3115G>A (p.Glu1039Lys)
c.922G>A (p.Glu308Lys)
c.3838G>A (p.Glu1280Lys)
c.4114G>A (p.Glu1372Lys)
c.3931G>A (p.Glu1311Lys)
c.3817G>A (p.Glu1273Lys)
c.3208G>A (p.Glu1070Lys)
ClinVar gnomAD v4
2g.47806798G>CCA346761658FBXO11,MSH6c.3724G>C (p.Glu1242Gln)
c.3637G>C (p.Glu1213Gln)
n.4695G>C
c.2455G>C (p.Glu819Gln)
c.4027G>C (p.Glu1343Gln)
c.1476G>C (n.1476G>C)
c.2794G>C (p.Glu932Gln)
n.2999G>C
n.2616G>C
n.2283G>C
n.2685G>C
n.1430G>C
n.3315G>C
n.3950C>G
n.4212C>G
c.4021G>C (p.Glu1341Gln)
c.3631G>C (p.Glu1211Gln)
c.169+1397C>G (n.169+1397C>G)
c.*124+1196C>G (n.*124+1196C>G)
c.*3368G>C (n.*3368G>C)
n.3112C>G
c.3115G>C (p.Glu1039Gln)
c.922G>C (p.Glu308Gln)
c.3838G>C (p.Glu1280Gln)
c.4114G>C (p.Glu1372Gln)
c.3931G>C (p.Glu1311Gln)
c.3817G>C (p.Glu1273Gln)
c.3208G>C (p.Glu1070Gln)
ClinVar
2g.47806798G=CA2496054551FBXO11,MSH6c.3724G= (p.Glu1242=)
c.3637G= (p.Glu1213=)
n.4695G=
c.2455G= (p.Glu819=)
c.4027G= (p.Glu1343=)
c.1476G= (n.1476G=)
c.2794G= (p.Glu932=)
n.2999G=
n.2616G=
n.2283G=
n.2685G=
n.1430G=
n.3315G=
n.3950C=
n.4212C=
c.4021G= (p.Glu1341=)
c.3631G= (p.Glu1211=)
c.169+1397C= (n.169+1397C=)
c.*124+1196C= (n.*124+1196C=)
c.*3368G= (n.*3368G=)
n.3112C=
c.3115G= (p.Glu1039=)
c.922G= (p.Glu308=)
c.3838G= (p.Glu1280=)
c.4114G= (p.Glu1372=)
c.3931G= (p.Glu1311=)
c.3817G= (p.Glu1273=)
c.3208G= (p.Glu1070=)
2g.47806798G>TCA346761659FBXO11,MSH6c.3724G>T (p.Glu1242Ter)
c.3637G>T (p.Glu1213Ter)
n.4695G>T
c.2455G>T (p.Glu819Ter)
c.4027G>T (p.Glu1343Ter)
c.1476G>T (n.1476G>T)
c.2794G>T (p.Glu932Ter)
n.2999G>T
n.2616G>T
n.2283G>T
n.2685G>T
n.1430G>T
n.3315G>T
n.3950C>A
n.4212C>A
c.4021G>T (p.Glu1341Ter)
c.3631G>T (p.Glu1211Ter)
c.169+1397C>A (n.169+1397C>A)
c.*124+1196C>A (n.*124+1196C>A)
c.*3368G>T (n.*3368G>T)
n.3112C>A
c.3115G>T (p.Glu1039Ter)
c.922G>T (p.Glu308Ter)
c.3838G>T (p.Glu1280Ter)
c.4114G>T (p.Glu1372Ter)
c.3931G>T (p.Glu1311Ter)
c.3817G>T (p.Glu1273Ter)
c.3208G>T (p.Glu1070Ter)
gnomAD v3 gnomAD v4
2g.47806799A=CA2496054552FBXO11,MSH6c.3725A= (p.Glu1242=)
c.3638A= (p.Glu1213=)
n.4696A=
c.2456A= (p.Glu819=)
c.4028A= (p.Glu1343=)
c.1477A= (n.1477A=)
c.2795A= (p.Glu932=)
n.3000A=
n.2617A=
n.2284A=
n.2686A=
n.1431A=
n.3316A=
n.3949T=
n.4211T=
c.4022A= (p.Glu1341=)
c.3632A= (p.Glu1211=)
c.169+1396T= (n.169+1396T=)
c.*124+1195T= (n.*124+1195T=)
c.*3369A= (n.*3369A=)
n.3111T=
c.3116A= (p.Glu1039=)
c.923A= (p.Glu308=)
c.3839A= (p.Glu1280=)
c.4115A= (p.Glu1372=)
c.3932A= (p.Glu1311=)
c.3818A= (p.Glu1273=)
c.3209A= (p.Glu1070=)
2g.47806799A>CCA346761660FBXO11,MSH6c.3725A>C (p.Glu1242Ala)
c.3638A>C (p.Glu1213Ala)
n.4696A>C
c.2456A>C (p.Glu819Ala)
c.4028A>C (p.Glu1343Ala)
c.1477A>C (n.1477A>C)
c.2795A>C (p.Glu932Ala)
n.3000A>C
n.2617A>C
n.2284A>C
n.2686A>C
n.1431A>C
n.3316A>C
n.3949T>G
n.4211T>G
c.4022A>C (p.Glu1341Ala)
c.3632A>C (p.Glu1211Ala)
c.169+1396T>G (n.169+1396T>G)
c.*124+1195T>G (n.*124+1195T>G)
c.*3369A>C (n.*3369A>C)
n.3111T>G
c.3116A>C (p.Glu1039Ala)
c.923A>C (p.Glu308Ala)
c.3839A>C (p.Glu1280Ala)
c.4115A>C (p.Glu1372Ala)
c.3932A>C (p.Glu1311Ala)
c.3818A>C (p.Glu1273Ala)
c.3209A>C (p.Glu1070Ala)
2g.47806799A>GCA072808FBXO11,MSH6c.3725A>G (p.Glu1242Gly)
c.3638A>G (p.Glu1213Gly)
n.4696A>G
c.2456A>G (p.Glu819Gly)
c.4028A>G (p.Glu1343Gly)
c.1477A>G (n.1477A>G)
c.2795A>G (p.Glu932Gly)
n.3000A>G
n.2617A>G
n.2284A>G
n.2686A>G
n.1431A>G
n.3316A>G
n.3949T>C
n.4211T>C
c.4022A>G (p.Glu1341Gly)
c.3632A>G (p.Glu1211Gly)
c.169+1396T>C (n.169+1396T>C)
c.*124+1195T>C (n.*124+1195T>C)
c.*3369A>G (n.*3369A>G)
n.3111T>C
c.3116A>G (p.Glu1039Gly)
c.923A>G (p.Glu308Gly)
c.3839A>G (p.Glu1280Gly)
c.4115A>G (p.Glu1372Gly)
c.3932A>G (p.Glu1311Gly)
c.3818A>G (p.Glu1273Gly)
c.3209A>G (p.Glu1070Gly)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.47806799A>TCA346761661FBXO11,MSH6c.3725A>T (p.Glu1242Val)
c.3638A>T (p.Glu1213Val)
n.4696A>T
c.2456A>T (p.Glu819Val)
c.4028A>T (p.Glu1343Val)
c.1477A>T (n.1477A>T)
c.2795A>T (p.Glu932Val)
n.3000A>T
n.2617A>T
n.2284A>T
n.2686A>T
n.1431A>T
n.3316A>T
n.3949T>A
n.4211T>A
c.4022A>T (p.Glu1341Val)
c.3632A>T (p.Glu1211Val)
c.169+1396T>A (n.169+1396T>A)
c.*124+1195T>A (n.*124+1195T>A)
c.*3369A>T (n.*3369A>T)
n.3111T>A
c.3116A>T (p.Glu1039Val)
c.923A>T (p.Glu308Val)
c.3839A>T (p.Glu1280Val)
c.4115A>T (p.Glu1372Val)
c.3932A>T (p.Glu1311Val)
c.3818A>T (p.Glu1273Val)
c.3209A>T (p.Glu1070Val)
2g.47806801delCA2573134809FBXO11,MSH6c.3727del (p.Arg1243GlyfsTer4)
c.3640del (p.Arg1214GlyfsTer4)
n.4698del
c.2458del (p.Arg820GlyfsTer4)
c.4030del (p.Arg1344GlyfsTer4)
c.1479del (n.1479del)
c.2797del (p.Arg933GlyfsTer4)
n.3002del
n.2619del
n.2286del
n.2688del
n.1433del
n.3318del
n.3949del
n.4211del
c.4024del (p.Arg1342GlyfsTer4)
c.3634del (p.Arg1212GlyfsTer4)
c.169+1396del (n.169+1396del)
c.*124+1195del (n.*124+1195del)
c.*3371del (n.*3371del)
n.3111del
c.3118del (p.Arg1040GlyfsTer4)
c.925del (p.Arg309GlyfsTer4)
c.3841del (p.Arg1281GlyfsTer4)
c.4117del (p.Arg1373GlyfsTer4)
c.3934del (p.Arg1312GlyfsTer4)
c.3820del (p.Arg1274GlyfsTer4)
c.3211del (p.Arg1071GlyfsTer4)
ClinVar dbSNP
2g.47806801_47806807delCA2576961637FBXO11,MSH6c.3727_3733del (p.Arg1243LeufsTer2)
c.3640_3646del (p.Arg1214LeufsTer2)
n.4698_4704del
c.2458_2464del (p.Arg820LeufsTer2)
c.4030_4036del (p.Arg1344LeufsTer2)
c.1479_1485del (n.1479_1485del)
c.2797_2803del (p.Arg933LeufsTer2)
n.3002_3008del
n.2619_2625del
n.2286_2292del
n.2688_2694del
n.1433_1439del
n.3318_3324del
n.3943_3949del
n.4205_4211del
c.4024_4030del (p.Arg1342LeufsTer2)
c.3634_3640del (p.Arg1212LeufsTer2)
c.169+1390_169+1396del (n.169+1390_169+1396del)
c.*124+1189_*124+1195del (n.*124+1189_*124+1195del)
c.*3371_*3377del (n.*3371_*3377del)
n.3105_3111del
c.3118_3124del (p.Arg1040LeufsTer2)
c.925_931del (p.Arg309LeufsTer2)
c.3841_3847del (p.Arg1281LeufsTer2)
c.4117_4123del (p.Arg1373LeufsTer2)
c.3934_3940del (p.Arg1312LeufsTer2)
c.3820_3826del (p.Arg1274LeufsTer2)
c.3211_3217del (p.Arg1071LeufsTer2)
2g.47806799_47806854dupCA16617726FBXO11,MSH6c.3725_3780dup (p.Leu1261LysfsTer5)
c.3638_3693dup (p.Leu1232LysfsTer5)
n.4696_4751dup
c.2456_2511dup (p.Leu838LysfsTer5)
c.4028_4083dup (p.Leu1362LysfsTer5)
c.1477_1532dup (n.1477_1532dup)
c.2795_2850dup (p.Leu951LysfsTer5)
n.3000_3055dup
n.2617_2672dup
n.2284_2339dup
n.2686_2741dup
n.1431_1486dup
n.3316_3371dup
n.3894_3949dup
n.4156_4211dup
c.4022_4077dup (p.Leu1360LysfsTer5)
c.3632_3687dup (p.Leu1230LysfsTer5)
c.169+1341_169+1396dup (n.169+1341_169+1396dup)
c.*124+1140_*124+1195dup (n.*124+1140_*124+1195dup)
c.*3369_*3424dup (n.*3369_*3424dup)
n.3056_3111dup
c.3116_3171dup (p.Leu1058LysfsTer5)
c.923_978dup (p.Leu327LysfsTer5)
c.3839_3894dup (p.Leu1299LysfsTer5)
c.4115_4170dup (p.Leu1391LysfsTer5)
c.3932_3987dup (p.Leu1330LysfsTer5)
c.3818_3873dup (p.Leu1292LysfsTer5)
c.3209_3264dup (p.Leu1089LysfsTer5)
ClinVar dbSNP gnomAD v2 gnomAD v4
2g.47806800A=CA2496054553FBXO11,MSH6c.3726A= (p.Glu1242=)
c.3639A= (p.Glu1213=)
n.4697A=
c.2457A= (p.Glu819=)
c.4029A= (p.Glu1343=)
c.1478A= (n.1478A=)
c.2796A= (p.Glu932=)
n.3001A=
n.2618A=
n.2285A=
n.2687A=
n.1432A=
n.3317A=
n.3948T=
n.4210T=
c.4023A= (p.Glu1341=)
c.3633A= (p.Glu1211=)
c.169+1395T= (n.169+1395T=)
c.*124+1194T= (n.*124+1194T=)
c.*3370A= (n.*3370A=)
n.3110T=
c.3117A= (p.Glu1039=)
c.924A= (p.Glu308=)
c.3840A= (p.Glu1280=)
c.4116A= (p.Glu1372=)
c.3933A= (p.Glu1311=)
c.3819A= (p.Glu1273=)
c.3210A= (p.Glu1070=)
2g.47806800A>CCA346761662FBXO11,MSH6c.3726A>C (p.Glu1242Asp)
c.3639A>C (p.Glu1213Asp)
n.4697A>C
c.2457A>C (p.Glu819Asp)
c.4029A>C (p.Glu1343Asp)
c.1478A>C (n.1478A>C)
c.2796A>C (p.Glu932Asp)
n.3001A>C
n.2618A>C
n.2285A>C
n.2687A>C
n.1432A>C
n.3317A>C
n.3948T>G
n.4210T>G
c.4023A>C (p.Glu1341Asp)
c.3633A>C (p.Glu1211Asp)
c.169+1395T>G (n.169+1395T>G)
c.*124+1194T>G (n.*124+1194T>G)
c.*3370A>C (n.*3370A>C)
n.3110T>G
c.3117A>C (p.Glu1039Asp)
c.924A>C (p.Glu308Asp)
c.3840A>C (p.Glu1280Asp)
c.4116A>C (p.Glu1372Asp)
c.3933A>C (p.Glu1311Asp)
c.3819A>C (p.Glu1273Asp)
c.3210A>C (p.Glu1070Asp)
2g.47806800A>GCA426122262FBXO11,MSH6c.3726A>G (p.Glu1242=)
c.3639A>G (p.Glu1213=)
n.4697A>G
c.2457A>G (p.Glu819=)
c.4029A>G (p.Glu1343=)
c.1478A>G (n.1478A>G)
c.2796A>G (p.Glu932=)
n.3001A>G
n.2618A>G
n.2285A>G
n.2687A>G
n.1432A>G
n.3317A>G
n.3948T>C
n.4210T>C
c.4023A>G (p.Glu1341=)
c.3633A>G (p.Glu1211=)
c.169+1395T>C (n.169+1395T>C)
c.*124+1194T>C (n.*124+1194T>C)
c.*3370A>G (n.*3370A>G)
n.3110T>C
c.3117A>G (p.Glu1039=)
c.924A>G (p.Glu308=)
c.3840A>G (p.Glu1280=)
c.4116A>G (p.Glu1372=)
c.3933A>G (p.Glu1311=)
c.3819A>G (p.Glu1273=)
c.3210A>G (p.Glu1070=)
2g.47806800A>TCA346761663FBXO11,MSH6c.3726A>T (p.Glu1242Asp)
c.3639A>T (p.Glu1213Asp)
n.4697A>T
c.2457A>T (p.Glu819Asp)
c.4029A>T (p.Glu1343Asp)
c.1478A>T (n.1478A>T)
c.2796A>T (p.Glu932Asp)
n.3001A>T
n.2618A>T
n.2285A>T
n.2687A>T
n.1432A>T
n.3317A>T
n.3948T>A
n.4210T>A
c.4023A>T (p.Glu1341Asp)
c.3633A>T (p.Glu1211Asp)
c.169+1395T>A (n.169+1395T>A)
c.*124+1194T>A (n.*124+1194T>A)
c.*3370A>T (n.*3370A>T)
n.3110T>A
c.3117A>T (p.Glu1039Asp)
c.924A>T (p.Glu308Asp)
c.3840A>T (p.Glu1280Asp)
c.4116A>T (p.Glu1372Asp)
c.3933A>T (p.Glu1311Asp)
c.3819A>T (p.Glu1273Asp)
c.3210A>T (p.Glu1070Asp)
2g.47806801A=CA2496054555FBXO11,MSH6c.3727A= (p.Arg1243=)
c.3640A= (p.Arg1214=)
n.4698A=
c.2458A= (p.Arg820=)
c.4030A= (p.Arg1344=)
c.1479A= (n.1479A=)
c.2797A= (p.Arg933=)
n.3002A=
n.2619A=
n.2286A=
n.2688A=
n.1433A=
n.3318A=
n.3947T=
n.4209T=
c.4024A= (p.Arg1342=)
c.3634A= (p.Arg1212=)
c.169+1394T= (n.169+1394T=)
c.*124+1193T= (n.*124+1193T=)
c.*3371A= (n.*3371A=)
n.3109T=
c.3118A= (p.Arg1040=)
c.925A= (p.Arg309=)
c.3841A= (p.Arg1281=)
c.4117A= (p.Arg1373=)
c.3934A= (p.Arg1312=)
c.3820A= (p.Arg1274=)
c.3211A= (p.Arg1071=)
2g.47806801A>CCA426122263FBXO11,MSH6c.3727A>C (p.Arg1243=)
c.3640A>C (p.Arg1214=)
n.4698A>C
c.2458A>C (p.Arg820=)
c.4030A>C (p.Arg1344=)
c.1479A>C (n.1479A>C)
c.2797A>C (p.Arg933=)
n.3002A>C
n.2619A>C
n.2286A>C
n.2688A>C
n.1433A>C
n.3318A>C
n.3947T>G
n.4209T>G
c.4024A>C (p.Arg1342=)
c.3634A>C (p.Arg1212=)
c.169+1394T>G (n.169+1394T>G)
c.*124+1193T>G (n.*124+1193T>G)
c.*3371A>C (n.*3371A>C)
n.3109T>G
c.3118A>C (p.Arg1040=)
c.925A>C (p.Arg309=)
c.3841A>C (p.Arg1281=)
c.4117A>C (p.Arg1373=)
c.3934A>C (p.Arg1312=)
c.3820A>C (p.Arg1274=)
c.3211A>C (p.Arg1071=)
ClinVar dbSNP
2g.47806801A>GCA346761664FBXO11,MSH6c.3727A>G (p.Arg1243Gly)
c.3640A>G (p.Arg1214Gly)
n.4698A>G
c.2458A>G (p.Arg820Gly)
c.4030A>G (p.Arg1344Gly)
c.1479A>G (n.1479A>G)
c.2797A>G (p.Arg933Gly)
n.3002A>G
n.2619A>G
n.2286A>G
n.2688A>G
n.1433A>G
n.3318A>G
n.3947T>C
n.4209T>C
c.4024A>G (p.Arg1342Gly)
c.3634A>G (p.Arg1212Gly)
c.169+1394T>C (n.169+1394T>C)
c.*124+1193T>C (n.*124+1193T>C)
c.*3371A>G (n.*3371A>G)
n.3109T>C
c.3118A>G (p.Arg1040Gly)
c.925A>G (p.Arg309Gly)
c.3841A>G (p.Arg1281Gly)
c.4117A>G (p.Arg1373Gly)
c.3934A>G (p.Arg1312Gly)
c.3820A>G (p.Arg1274Gly)
c.3211A>G (p.Arg1071Gly)
dbSNP
2g.47806801A>TCA346761665FBXO11,MSH6c.3727A>T (p.Arg1243Trp)
c.3640A>T (p.Arg1214Trp)
n.4698A>T
c.2458A>T (p.Arg820Trp)
c.4030A>T (p.Arg1344Trp)
c.1479A>T (n.1479A>T)
c.2797A>T (p.Arg933Trp)
n.3002A>T
n.2619A>T
n.2286A>T
n.2688A>T
n.1433A>T
n.3318A>T
n.3947T>A
n.4209T>A
c.4024A>T (p.Arg1342Trp)
c.3634A>T (p.Arg1212Trp)
c.169+1394T>A (n.169+1394T>A)
c.*124+1193T>A (n.*124+1193T>A)
c.*3371A>T (n.*3371A>T)
n.3109T>A
c.3118A>T (p.Arg1040Trp)
c.925A>T (p.Arg309Trp)
c.3841A>T (p.Arg1281Trp)
c.4117A>T (p.Arg1373Trp)
c.3934A>T (p.Arg1312Trp)
c.3820A>T (p.Arg1274Trp)
c.3211A>T (p.Arg1071Trp)
dbSNP
2g.47806802_47806846dupCA2496054554FBXO11,MSH6c.3728_3772dup (p.Leu1257_Ile1258insArgSerThrValAspAlaGluAlaValHisLysLeuLeuThrLeu)
c.3641_3685dup (p.Leu1228_Ile1229insArgSerThrValAspAlaGluAlaValHisLysLeuLeuThrLeu)
n.4699_4743dup
c.2459_2503dup (p.Leu834_Ile835insArgSerThrValAspAlaGluAlaValHisLysLeuLeuThrLeu)
c.4031_4075dup (p.Leu1358_Ile1359insArgSerThrValAspAlaGluAlaValHisLysLeuLeuThrLeu)
c.1480_1524dup (n.1480_1524dup)
c.2798_2842dup (p.Leu947_Ile948insArgSerThrValAspAlaGluAlaValHisLysLeuLeuThrLeu)
n.3003_3047dup
n.2620_2664dup
n.2287_2331dup
n.2689_2733dup
n.1434_1478dup
n.3319_3363dup
n.3903_3947dup
n.4165_4209dup
c.4025_4069dup (p.Leu1356_Ile1357insArgSerThrValAspAlaGluAlaValHisLysLeuLeuThrLeu)
c.3635_3679dup (p.Leu1226_Ile1227insArgSerThrValAspAlaGluAlaValHisLysLeuLeuThrLeu)
c.169+1350_169+1394dup (n.169+1350_169+1394dup)
c.*124+1149_*124+1193dup (n.*124+1149_*124+1193dup)
c.*3372_*3416dup (n.*3372_*3416dup)
n.3065_3109dup
c.3119_3163dup (p.Leu1054_Ile1055insArgSerThrValAspAlaGluAlaValHisLysLeuLeuThrLeu)
c.926_970dup (p.Leu323_Ile324insArgSerThrValAspAlaGluAlaValHisLysLeuLeuThrLeu)
c.3842_3886dup (p.Leu1295_Ile1296insArgSerThrValAspAlaGluAlaValHisLysLeuLeuThrLeu)
c.4118_4162dup (p.Leu1387_Ile1388insArgSerThrValAspAlaGluAlaValHisLysLeuLeuThrLeu)
c.3935_3979dup (p.Leu1326_Ile1327insArgSerThrValAspAlaGluAlaValHisLysLeuLeuThrLeu)
c.3821_3865dup (p.Leu1288_Ile1289insArgSerThrValAspAlaGluAlaValHisLysLeuLeuThrLeu)
c.3212_3256dup (p.Leu1085_Ile1086insArgSerThrValAspAlaGluAlaValHisLysLeuLeuThrLeu)
ClinVar dbSNP
2g.47806802G>ACA346761666FBXO11,MSH6c.3728G>A (p.Arg1243Lys)
c.3641G>A (p.Arg1214Lys)
n.4699G>A
c.2459G>A (p.Arg820Lys)
c.4031G>A (p.Arg1344Lys)
c.1480G>A (n.1480G>A)
c.2798G>A (p.Arg933Lys)
n.3003G>A
n.2620G>A
n.2287G>A
n.2689G>A
n.1434G>A
n.3319G>A
n.3946C>T
n.4208C>T
c.4025G>A (p.Arg1342Lys)
c.3635G>A (p.Arg1212Lys)
c.169+1393C>T (n.169+1393C>T)
c.*124+1192C>T (n.*124+1192C>T)
c.*3372G>A (n.*3372G>A)
n.3108C>T
c.3119G>A (p.Arg1040Lys)
c.926G>A (p.Arg309Lys)
c.3842G>A (p.Arg1281Lys)
c.4118G>A (p.Arg1373Lys)
c.3935G>A (p.Arg1312Lys)
c.3821G>A (p.Arg1274Lys)
c.3212G>A (p.Arg1071Lys)
dbSNP gnomAD v3 gnomAD v4
2g.47806802G>CCA072813FBXO11,MSH6c.3728G>C (p.Arg1243Thr)
c.3641G>C (p.Arg1214Thr)
n.4699G>C
c.2459G>C (p.Arg820Thr)
c.4031G>C (p.Arg1344Thr)
c.1480G>C (n.1480G>C)
c.2798G>C (p.Arg933Thr)
n.3003G>C
n.2620G>C
n.2287G>C
n.2689G>C
n.1434G>C
n.3319G>C
n.3946C>G
n.4208C>G
c.4025G>C (p.Arg1342Thr)
c.3635G>C (p.Arg1212Thr)
c.169+1393C>G (n.169+1393C>G)
c.*124+1192C>G (n.*124+1192C>G)
c.*3372G>C (n.*3372G>C)
n.3108C>G
c.3119G>C (p.Arg1040Thr)
c.926G>C (p.Arg309Thr)
c.3842G>C (p.Arg1281Thr)
c.4118G>C (p.Arg1373Thr)
c.3935G>C (p.Arg1312Thr)
c.3821G>C (p.Arg1274Thr)
c.3212G>C (p.Arg1071Thr)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.47806802G=CA2496054556FBXO11,MSH6c.3728G= (p.Arg1243=)
c.3641G= (p.Arg1214=)
n.4699G=
c.2459G= (p.Arg820=)
c.4031G= (p.Arg1344=)
c.1480G= (n.1480G=)
c.2798G= (p.Arg933=)
n.3003G=
n.2620G=
n.2287G=
n.2689G=
n.1434G=
n.3319G=
n.3946C=
n.4208C=
c.4025G= (p.Arg1342=)
c.3635G= (p.Arg1212=)
c.169+1393C= (n.169+1393C=)
c.*124+1192C= (n.*124+1192C=)
c.*3372G= (n.*3372G=)
n.3108C=
c.3119G= (p.Arg1040=)
c.926G= (p.Arg309=)
c.3842G= (p.Arg1281=)
c.4118G= (p.Arg1373=)
c.3935G= (p.Arg1312=)
c.3821G= (p.Arg1274=)
c.3212G= (p.Arg1071=)
2g.47806802G>TCA346761667FBXO11,MSH6c.3728G>T (p.Arg1243Met)
c.3641G>T (p.Arg1214Met)
n.4699G>T
c.2459G>T (p.Arg820Met)
c.4031G>T (p.Arg1344Met)
c.1480G>T (n.1480G>T)
c.2798G>T (p.Arg933Met)
n.3003G>T
n.2620G>T
n.2287G>T
n.2689G>T
n.1434G>T
n.3319G>T
n.3946C>A
n.4208C>A
c.4025G>T (p.Arg1342Met)
c.3635G>T (p.Arg1212Met)
c.169+1393C>A (n.169+1393C>A)
c.*124+1192C>A (n.*124+1192C>A)
c.*3372G>T (n.*3372G>T)
n.3108C>A
c.3119G>T (p.Arg1040Met)
c.926G>T (p.Arg309Met)
c.3842G>T (p.Arg1281Met)
c.4118G>T (p.Arg1373Met)
c.3935G>T (p.Arg1312Met)
c.3821G>T (p.Arg1274Met)
c.3212G>T (p.Arg1071Met)
dbSNP
2g.47806803G>ACA426122264FBXO11,MSH6c.3729G>A (p.Arg1243=)
c.3642G>A (p.Arg1214=)
n.4700G>A
c.2460G>A (p.Arg820=)
c.4032G>A (p.Arg1344=)
c.1481G>A (n.1481G>A)
c.2799G>A (p.Arg933=)
n.3004G>A
n.2621G>A
n.2288G>A
n.2690G>A
n.1435G>A
n.3320G>A
n.3945C>T
n.4207C>T
c.4026G>A (p.Arg1342=)
c.3636G>A (p.Arg1212=)
c.169+1392C>T (n.169+1392C>T)
c.*124+1191C>T (n.*124+1191C>T)
c.*3373G>A (n.*3373G>A)
n.3107C>T
c.3120G>A (p.Arg1040=)
c.927G>A (p.Arg309=)
c.3843G>A (p.Arg1281=)
c.4119G>A (p.Arg1373=)
c.3936G>A (p.Arg1312=)
c.3822G>A (p.Arg1274=)
c.3213G>A (p.Arg1071=)
ClinVar dbSNP gnomAD v4 COSMIC
2g.47806803G>CCA10578176FBXO11,MSH6c.3729G>C (p.Arg1243Ser)
c.3642G>C (p.Arg1214Ser)
n.4700G>C
c.2460G>C (p.Arg820Ser)
c.4032G>C (p.Arg1344Ser)
c.1481G>C (n.1481G>C)
c.2799G>C (p.Arg933Ser)
n.3004G>C
n.2621G>C
n.2288G>C
n.2690G>C
n.1435G>C
n.3320G>C
n.3945C>G
n.4207C>G
c.4026G>C (p.Arg1342Ser)
c.3636G>C (p.Arg1212Ser)
c.169+1392C>G (n.169+1392C>G)
c.*124+1191C>G (n.*124+1191C>G)
c.*3373G>C (n.*3373G>C)
n.3107C>G
c.3120G>C (p.Arg1040Ser)
c.927G>C (p.Arg309Ser)
c.3843G>C (p.Arg1281Ser)
c.4119G>C (p.Arg1373Ser)
c.3936G>C (p.Arg1312Ser)
c.3822G>C (p.Arg1274Ser)
c.3213G>C (p.Arg1071Ser)
ClinVar dbSNP gnomAD v2 gnomAD v4
2g.47806803G=CA2496054558FBXO11,MSH6c.3729G= (p.Arg1243=)
c.3642G= (p.Arg1214=)
n.4700G=
c.2460G= (p.Arg820=)
c.4032G= (p.Arg1344=)
c.1481G= (n.1481G=)
c.2799G= (p.Arg933=)
n.3004G=
n.2621G=
n.2288G=
n.2690G=
n.1435G=
n.3320G=
n.3945C=
n.4207C=
c.4026G= (p.Arg1342=)
c.3636G= (p.Arg1212=)
c.169+1392C= (n.169+1392C=)
c.*124+1191C= (n.*124+1191C=)
c.*3373G= (n.*3373G=)
n.3107C=
c.3120G= (p.Arg1040=)
c.927G= (p.Arg309=)
c.3843G= (p.Arg1281=)
c.4119G= (p.Arg1373=)
c.3936G= (p.Arg1312=)
c.3822G= (p.Arg1274=)
c.3213G= (p.Arg1071=)
2g.47806803G>TCA346761668FBXO11,MSH6c.3729G>T (p.Arg1243Ser)
c.3642G>T (p.Arg1214Ser)
n.4700G>T
c.2460G>T (p.Arg820Ser)
c.4032G>T (p.Arg1344Ser)
c.1481G>T (n.1481G>T)
c.2799G>T (p.Arg933Ser)
n.3004G>T
n.2621G>T
n.2288G>T
n.2690G>T
n.1435G>T
n.3320G>T
n.3945C>A
n.4207C>A
c.4026G>T (p.Arg1342Ser)
c.3636G>T (p.Arg1212Ser)
c.169+1392C>A (n.169+1392C>A)
c.*124+1191C>A (n.*124+1191C>A)
c.*3373G>T (n.*3373G>T)
n.3107C>A
c.3120G>T (p.Arg1040Ser)
c.927G>T (p.Arg309Ser)
c.3843G>T (p.Arg1281Ser)
c.4119G>T (p.Arg1373Ser)
c.3936G>T (p.Arg1312Ser)
c.3822G>T (p.Arg1274Ser)
c.3213G>T (p.Arg1071Ser)
dbSNP
2g.47806803_47806805delinsGTCCA2496054557FBXO11,MSH6c.3729_3731delinsGTC (p.Arg1243=)
c.3642_3644delinsGTC (p.Arg1214=)
n.4700_4702delinsGTC
c.2460_2462delinsGTC (p.Arg820=)
c.4032_4034delinsGTC (p.Arg1344=)
c.1481_1483delinsGTC (n.1481_1483delinsGTC)
c.2799_2801delinsGTC (p.Arg933=)
n.3004_3006delinsGTC
n.2621_2623delinsGTC
n.2288_2290delinsGTC
n.2690_2692delinsGTC
n.1435_1437delinsGTC
n.3320_3322delinsGTC
n.3943_3945delinsGAC
n.4205_4207delinsGAC
c.4026_4028delinsGTC (p.Arg1342=)
c.3636_3638delinsGTC (p.Arg1212=)
c.169+1390_169+1392delinsGAC (n.169+1390_169+1392delinsGAC)
c.*124+1189_*124+1191delinsGAC (n.*124+1189_*124+1191delinsGAC)
c.*3373_*3375delinsGTC (n.*3373_*3375delinsGTC)
n.3105_3107delinsGAC
c.3120_3122delinsGTC (p.Arg1040=)
c.927_929delinsGTC (p.Arg309=)
c.3843_3845delinsGTC (p.Arg1281=)
c.4119_4121delinsGTC (p.Arg1373=)
c.3936_3938delinsGTC (p.Arg1312=)
c.3822_3824delinsGTC (p.Arg1274=)
c.3213_3215delinsGTC (p.Arg1071=)
2g.47806804T>ACA346761669FBXO11,MSH6c.3730T>A (p.Ser1244Thr)
c.3643T>A (p.Ser1215Thr)
n.4701T>A
c.2461T>A (p.Ser821Thr)
c.4033T>A (p.Ser1345Thr)
c.1482T>A (n.1482T>A)
c.2800T>A (p.Ser934Thr)
n.3005T>A
n.2622T>A
n.2289T>A
n.2691T>A
n.1436T>A
n.3321T>A
n.3944A>T
n.4206A>T
c.4027T>A (p.Ser1343Thr)
c.3637T>A (p.Ser1213Thr)
c.169+1391A>T (n.169+1391A>T)
c.*124+1190A>T (n.*124+1190A>T)
c.*3374T>A (n.*3374T>A)
n.3106A>T
c.3121T>A (p.Ser1041Thr)
c.928T>A (p.Ser310Thr)
c.3844T>A (p.Ser1282Thr)
c.4120T>A (p.Ser1374Thr)
c.3937T>A (p.Ser1313Thr)
c.3823T>A (p.Ser1275Thr)
c.3214T>A (p.Ser1072Thr)
2g.47806804T>CCA346761670FBXO11,MSH6c.3730T>C (p.Ser1244Pro)
c.3643T>C (p.Ser1215Pro)
n.4701T>C
c.2461T>C (p.Ser821Pro)
c.4033T>C (p.Ser1345Pro)
c.1482T>C (n.1482T>C)
c.2800T>C (p.Ser934Pro)
n.3005T>C
n.2622T>C
n.2289T>C
n.2691T>C
n.1436T>C
n.3321T>C
n.3944A>G
n.4206A>G
c.4027T>C (p.Ser1343Pro)
c.3637T>C (p.Ser1213Pro)
c.169+1391A>G (n.169+1391A>G)
c.*124+1190A>G (n.*124+1190A>G)
c.*3374T>C (n.*3374T>C)
n.3106A>G
c.3121T>C (p.Ser1041Pro)
c.928T>C (p.Ser310Pro)
c.3844T>C (p.Ser1282Pro)
c.4120T>C (p.Ser1374Pro)
c.3937T>C (p.Ser1313Pro)
c.3823T>C (p.Ser1275Pro)
c.3214T>C (p.Ser1072Pro)
ClinVar dbSNP gnomAD v4
2g.47806804T>GCA346761671FBXO11,MSH6c.3730T>G (p.Ser1244Ala)
c.3643T>G (p.Ser1215Ala)
n.4701T>G
c.2461T>G (p.Ser821Ala)
c.4033T>G (p.Ser1345Ala)
c.1482T>G (n.1482T>G)
c.2800T>G (p.Ser934Ala)
n.3005T>G
n.2622T>G
n.2289T>G
n.2691T>G
n.1436T>G
n.3321T>G
n.3944A>C
n.4206A>C
c.4027T>G (p.Ser1343Ala)
c.3637T>G (p.Ser1213Ala)
c.169+1391A>C (n.169+1391A>C)
c.*124+1190A>C (n.*124+1190A>C)
c.*3374T>G (n.*3374T>G)
n.3106A>C
c.3121T>G (p.Ser1041Ala)
c.928T>G (p.Ser310Ala)
c.3844T>G (p.Ser1282Ala)
c.4120T>G (p.Ser1374Ala)
c.3937T>G (p.Ser1313Ala)
c.3823T>G (p.Ser1275Ala)
c.3214T>G (p.Ser1072Ala)
ClinVar dbSNP
2g.47806804T=CA2496054559FBXO11,MSH6c.3730T= (p.Ser1244=)
c.3643T= (p.Ser1215=)
n.4701T=
c.2461T= (p.Ser821=)
c.4033T= (p.Ser1345=)
c.1482T= (n.1482T=)
c.2800T= (p.Ser934=)
n.3005T=
n.2622T=
n.2289T=
n.2691T=
n.1436T=
n.3321T=
n.3944A=
n.4206A=
c.4027T= (p.Ser1343=)
c.3637T= (p.Ser1213=)
c.169+1391A= (n.169+1391A=)
c.*124+1190A= (n.*124+1190A=)
c.*3374T= (n.*3374T=)
n.3106A=
c.3121T= (p.Ser1041=)
c.928T= (p.Ser310=)
c.3844T= (p.Ser1282=)
c.4120T= (p.Ser1374=)
c.3937T= (p.Ser1313=)
c.3823T= (p.Ser1275=)
c.3214T= (p.Ser1072=)
2g.47806804_47806805delCA915943992FBXO11,MSH6c.3730_3731del (p.Ser1244AsnfsTer5)
c.3643_3644del (p.Ser1215AsnfsTer5)
n.4701_4702del
c.2461_2462del (p.Ser821AsnfsTer5)
c.4033_4034del (p.Ser1345AsnfsTer5)
c.1482_1483del (n.1482_1483del)
c.2800_2801del (p.Ser934AsnfsTer5)
n.3005_3006del
n.2622_2623del
n.2289_2290del
n.2691_2692del
n.1436_1437del
n.3321_3322del
n.3943_3944del
n.4205_4206del
c.4027_4028del (p.Ser1343AsnfsTer5)
c.3637_3638del (p.Ser1213AsnfsTer5)
c.169+1390_169+1391del (n.169+1390_169+1391del)
c.*124+1189_*124+1190del (n.*124+1189_*124+1190del)
c.*3374_*3375del (n.*3374_*3375del)
n.3105_3106del
c.3121_3122del (p.Ser1041AsnfsTer5)
c.928_929del (p.Ser310AsnfsTer5)
c.3844_3845del (p.Ser1282AsnfsTer5)
c.4120_4121del (p.Ser1374AsnfsTer5)
c.3937_3938del (p.Ser1313AsnfsTer5)
c.3823_3824del (p.Ser1275AsnfsTer5)
c.3214_3215del (p.Ser1072AsnfsTer5)
ClinVar dbSNP
2g.47806805_47806818dupCA2573134810FBXO11,MSH6c.3731_3744dup (p.Glu1249GlnfsTer3)
c.3644_3657dup (p.Glu1220GlnfsTer3)
n.4702_4715dup
c.2462_2475dup (p.Glu826GlnfsTer3)
c.4034_4047dup (p.Glu1350GlnfsTer3)
c.1483_1496dup (n.1483_1496dup)
c.2801_2814dup (p.Glu939GlnfsTer3)
n.3006_3019dup
n.2623_2636dup
n.2290_2303dup
n.2692_2705dup
n.1437_1450dup
n.3322_3335dup
n.3931_3944dup
n.4193_4206dup
c.4028_4041dup (p.Glu1348GlnfsTer3)
c.3638_3651dup (p.Glu1218GlnfsTer3)
c.169+1378_169+1391dup (n.169+1378_169+1391dup)
c.*124+1177_*124+1190dup (n.*124+1177_*124+1190dup)
c.*3375_*3388dup (n.*3375_*3388dup)
n.3093_3106dup
c.3122_3135dup (p.Glu1046GlnfsTer3)
c.929_942dup (p.Glu315GlnfsTer3)
c.3845_3858dup (p.Glu1287GlnfsTer3)
c.4121_4134dup (p.Glu1379GlnfsTer3)
c.3938_3951dup (p.Glu1318GlnfsTer3)
c.3824_3837dup (p.Glu1280GlnfsTer3)
c.3215_3228dup (p.Glu1077GlnfsTer3)
ClinVar dbSNP
2g.47806805C>ACA346761672FBXO11,MSH6c.3731C>A (p.Ser1244Ter)
c.3644C>A (p.Ser1215Ter)
n.4702C>A
c.2462C>A (p.Ser821Ter)
c.4034C>A (p.Ser1345Ter)
c.1483C>A (n.1483C>A)
c.2801C>A (p.Ser934Ter)
n.3006C>A
n.2623C>A
n.2290C>A
n.2692C>A
n.1437C>A
n.3322C>A
n.3943G>T
n.4205G>T
c.4028C>A (p.Ser1343Ter)
c.3638C>A (p.Ser1213Ter)
c.169+1390G>T (n.169+1390G>T)
c.*124+1189G>T (n.*124+1189G>T)
c.*3375C>A (n.*3375C>A)
n.3105G>T
c.3122C>A (p.Ser1041Ter)
c.929C>A (p.Ser310Ter)
c.3845C>A (p.Ser1282Ter)
c.4121C>A (p.Ser1374Ter)
c.3938C>A (p.Ser1313Ter)
c.3824C>A (p.Ser1275Ter)
c.3215C>A (p.Ser1072Ter)
dbSNP gnomAD v3 gnomAD v4
2g.47806805C=CA2496054560FBXO11,MSH6c.3731C= (p.Ser1244=)
c.3644C= (p.Ser1215=)
n.4702C=
c.2462C= (p.Ser821=)
c.4034C= (p.Ser1345=)
c.1483C= (n.1483C=)
c.2801C= (p.Ser934=)
n.3006C=
n.2623C=
n.2290C=
n.2692C=
n.1437C=
n.3322C=
n.3943G=
n.4205G=
c.4028C= (p.Ser1343=)
c.3638C= (p.Ser1213=)
c.169+1390G= (n.169+1390G=)
c.*124+1189G= (n.*124+1189G=)
c.*3375C= (n.*3375C=)
n.3105G=
c.3122C= (p.Ser1041=)
c.929C= (p.Ser310=)
c.3845C= (p.Ser1282=)
c.4121C= (p.Ser1374=)
c.3938C= (p.Ser1313=)
c.3824C= (p.Ser1275=)
c.3215C= (p.Ser1072=)
2g.47806805C>GCA279821FBXO11,MSH6c.3731C>G (p.Ser1244Ter)
c.3644C>G (p.Ser1215Ter)
n.4702C>G
c.2462C>G (p.Ser821Ter)
c.4034C>G (p.Ser1345Ter)
c.1483C>G (n.1483C>G)
c.2801C>G (p.Ser934Ter)
n.3006C>G
n.2623C>G
n.2290C>G
n.2692C>G
n.1437C>G
n.3322C>G
n.3943G>C
n.4205G>C
c.4028C>G (p.Ser1343Ter)
c.3638C>G (p.Ser1213Ter)
c.169+1390G>C (n.169+1390G>C)
c.*124+1189G>C (n.*124+1189G>C)
c.*3375C>G (n.*3375C>G)
n.3105G>C
c.3122C>G (p.Ser1041Ter)
c.929C>G (p.Ser310Ter)
c.3845C>G (p.Ser1282Ter)
c.4121C>G (p.Ser1374Ter)
c.3938C>G (p.Ser1313Ter)
c.3824C>G (p.Ser1275Ter)
c.3215C>G (p.Ser1072Ter)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.47806805C>TCA346761673FBXO11,MSH6c.3731C>T (p.Ser1244Leu)
c.3644C>T (p.Ser1215Leu)
n.4702C>T
c.2462C>T (p.Ser821Leu)
c.4034C>T (p.Ser1345Leu)
c.1483C>T (n.1483C>T)
c.2801C>T (p.Ser934Leu)
n.3006C>T
n.2623C>T
n.2290C>T
n.2692C>T
n.1437C>T
n.3322C>T
n.3943G>A
n.4205G>A
c.4028C>T (p.Ser1343Leu)
c.3638C>T (p.Ser1213Leu)
c.169+1390G>A (n.169+1390G>A)
c.*124+1189G>A (n.*124+1189G>A)
c.*3375C>T (n.*3375C>T)
n.3105G>A
c.3122C>T (p.Ser1041Leu)
c.929C>T (p.Ser310Leu)
c.3845C>T (p.Ser1282Leu)
c.4121C>T (p.Ser1374Leu)
c.3938C>T (p.Ser1313Leu)
c.3824C>T (p.Ser1275Leu)
c.3215C>T (p.Ser1072Leu)
dbSNP
2g.47806806_47806808dupCA072818FBXO11,MSH6c.3732_3734dup (p.Thr1245_Val1246insThr)
c.3645_3647dup (p.Thr1216_Val1217insThr)
n.4703_4705dup
c.2463_2465dup (p.Thr822_Val823insThr)
c.4035_4037dup (p.Thr1346_Val1347insThr)
c.1484_1486dup (n.1484_1486dup)
c.2802_2804dup (p.Thr935_Val936insThr)
n.3007_3009dup
n.2624_2626dup
n.2291_2293dup
n.2693_2695dup
n.1438_1440dup
n.3323_3325dup
n.3941_3943dup
n.4203_4205dup
c.4029_4031dup (p.Thr1344_Val1345insThr)
c.3639_3641dup (p.Thr1214_Val1215insThr)
c.169+1388_169+1390dup (n.169+1388_169+1390dup)
c.*124+1187_*124+1189dup (n.*124+1187_*124+1189dup)
c.*3376_*3378dup (n.*3376_*3378dup)
n.3103_3105dup
c.3123_3125dup (p.Thr1042_Val1043insThr)
c.930_932dup (p.Thr311_Val312insThr)
c.3846_3848dup (p.Thr1283_Val1284insThr)
c.4122_4124dup (p.Thr1375_Val1376insThr)
c.3939_3941dup (p.Thr1314_Val1315insThr)
c.3825_3827dup (p.Thr1276_Val1277insThr)
c.3216_3218dup (p.Thr1073_Val1074insThr)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.47806806A>CCA426122265FBXO11,MSH6c.3732A>C (p.Ser1244=)
c.3645A>C (p.Ser1215=)
n.4703A>C
c.2463A>C (p.Ser821=)
c.4035A>C (p.Ser1345=)
c.1484A>C (n.1484A>C)
c.2802A>C (p.Ser934=)
n.3007A>C
n.2624A>C
n.2291A>C
n.2693A>C
n.1438A>C
n.3323A>C
n.3942T>G
n.4204T>G
c.4029A>C (p.Ser1343=)
c.3639A>C (p.Ser1213=)
c.169+1389T>G (n.169+1389T>G)
c.*124+1188T>G (n.*124+1188T>G)
c.*3376A>C (n.*3376A>C)
n.3104T>G
c.3123A>C (p.Ser1041=)
c.930A>C (p.Ser310=)
c.3846A>C (p.Ser1282=)
c.4122A>C (p.Ser1374=)
c.3939A>C (p.Ser1313=)
c.3825A>C (p.Ser1275=)
c.3216A>C (p.Ser1072=)
2g.47806806A>GCA426122266FBXO11,MSH6c.3732A>G (p.Ser1244=)
c.3645A>G (p.Ser1215=)
n.4703A>G
c.2463A>G (p.Ser821=)
c.4035A>G (p.Ser1345=)
c.1484A>G (n.1484A>G)
c.2802A>G (p.Ser934=)
n.3007A>G
n.2624A>G
n.2291A>G
n.2693A>G
n.1438A>G
n.3323A>G
n.3942T>C
n.4204T>C
c.4029A>G (p.Ser1343=)
c.3639A>G (p.Ser1213=)
c.169+1389T>C (n.169+1389T>C)
c.*124+1188T>C (n.*124+1188T>C)
c.*3376A>G (n.*3376A>G)
n.3104T>C
c.3123A>G (p.Ser1041=)
c.930A>G (p.Ser310=)
c.3846A>G (p.Ser1282=)
c.4122A>G (p.Ser1374=)
c.3939A>G (p.Ser1313=)
c.3825A>G (p.Ser1275=)
c.3216A>G (p.Ser1072=)
dbSNP
2g.47806806A>TCA426122267FBXO11,MSH6c.3732A>T (p.Ser1244=)
c.3645A>T (p.Ser1215=)
n.4703A>T
c.2463A>T (p.Ser821=)
c.4035A>T (p.Ser1345=)
c.1484A>T (n.1484A>T)
c.2802A>T (p.Ser934=)
n.3007A>T
n.2624A>T
n.2291A>T
n.2693A>T
n.1438A>T
n.3323A>T
n.3942T>A
n.4204T>A
c.4029A>T (p.Ser1343=)
c.3639A>T (p.Ser1213=)
c.169+1389T>A (n.169+1389T>A)
c.*124+1188T>A (n.*124+1188T>A)
c.*3376A>T (n.*3376A>T)
n.3104T>A
c.3123A>T (p.Ser1041=)
c.930A>T (p.Ser310=)
c.3846A>T (p.Ser1282=)
c.4122A>T (p.Ser1374=)
c.3939A>T (p.Ser1313=)
c.3825A>T (p.Ser1275=)
c.3216A>T (p.Ser1072=)
dbSNP
2g.47806806_47806809dupCA2739274452FBXO11,MSH6c.3732_3735dup (p.Val1246AsnfsTer5)
c.3645_3648dup (p.Val1217AsnfsTer5)
n.4703_4706dup
c.2463_2466dup (p.Val823AsnfsTer5)
c.4035_4038dup (p.Val1347AsnfsTer5)
c.1484_1487dup (n.1484_1487dup)
c.2802_2805dup (p.Val936AsnfsTer5)
n.3007_3010dup
n.2624_2627dup
n.2291_2294dup
n.2693_2696dup
n.1438_1441dup
n.3323_3326dup
n.3939_3942dup
n.4201_4204dup
c.4029_4032dup (p.Val1345AsnfsTer5)
c.3639_3642dup (p.Val1215AsnfsTer5)
c.169+1386_169+1389dup (n.169+1386_169+1389dup)
c.*124+1185_*124+1188dup (n.*124+1185_*124+1188dup)
c.*3376_*3379dup (n.*3376_*3379dup)
n.3101_3104dup
c.3123_3126dup (p.Val1043AsnfsTer5)
c.930_933dup (p.Val312AsnfsTer5)
c.3846_3849dup (p.Val1284AsnfsTer5)
c.4122_4125dup (p.Val1376AsnfsTer5)
c.3939_3942dup (p.Val1315AsnfsTer5)
c.3825_3828dup (p.Val1277AsnfsTer5)
c.3216_3219dup (p.Val1074AsnfsTer5)
ClinVar
2g.47806808_47806832dupCA2555354714FBXO11,MSH6c.3734_3758dup (p.Lys1253AsnfsTer5)
c.3647_3671dup (p.Lys1224AsnfsTer5)
n.4705_4729dup
c.2465_2489dup (p.Lys830AsnfsTer5)
c.4037_4061dup (p.Lys1354AsnfsTer5)
c.1486_1510dup (n.1486_1510dup)
c.2804_2828dup (p.Lys943AsnfsTer5)
n.3009_3033dup
n.2626_2650dup
n.2293_2317dup
n.2695_2719dup
n.1440_1464dup
n.3325_3349dup
n.3918_3942dup
n.4180_4204dup
c.4031_4055dup (p.Lys1352AsnfsTer5)
c.3641_3665dup (p.Lys1222AsnfsTer5)
c.169+1365_169+1389dup (n.169+1365_169+1389dup)
c.*124+1164_*124+1188dup (n.*124+1164_*124+1188dup)
c.*3378_*3402dup (n.*3378_*3402dup)
n.3080_3104dup
c.3125_3149dup (p.Lys1050AsnfsTer5)
c.932_956dup (p.Lys319AsnfsTer5)
c.3848_3872dup (p.Lys1291AsnfsTer5)
c.4124_4148dup (p.Lys1383AsnfsTer5)
c.3941_3965dup (p.Lys1322AsnfsTer5)
c.3827_3851dup (p.Lys1284AsnfsTer5)
c.3218_3242dup (p.Lys1081AsnfsTer5)
2g.47806806_47806873dupCA2496054561FBXO11,MSH6c.3732_*13dup (n.3732_*13dup)
c.3645_*13dup (n.3645_*13dup)
n.4703_4770dup
c.2463_*13dup (n.2463_*13dup)
c.4035_*13dup (n.4035_*13dup)
c.1484_1551dup (n.1484_1551dup)
c.2802_2869dup (n.2802_2869dup)
n.2624_2691dup
n.2291_2358dup
n.2693_2760dup
n.1438_1505dup
n.3323_3390dup
n.3875_3942dup
n.4137_4204dup
c.4029_*13dup (n.4029_*13dup)
c.3639_*13dup (n.3639_*13dup)
c.169+1322_169+1389dup (n.169+1322_169+1389dup)
c.*124+1121_*124+1188dup (n.*124+1121_*124+1188dup)
c.*3376_*3443dup (n.*3376_*3443dup)
n.3037_3104dup
c.3123_*13dup (n.3123_*13dup)
c.930_*13dup (n.930_*13dup)
c.3846_*13dup (n.3846_*13dup)
c.4122_*13dup (n.4122_*13dup)
c.3939_*13dup (n.3939_*13dup)
c.3825_*13dup (n.3825_*13dup)
c.3216_*13dup (n.3216_*13dup)
ClinVar dbSNP
2g.47806807A=CA2496054563FBXO11,MSH6c.3733A= (p.Thr1245=)
c.3646A= (p.Thr1216=)
n.4704A=
c.2464A= (p.Thr822=)
c.4036A= (p.Thr1346=)
c.1485A= (n.1485A=)
c.2803A= (p.Thr935=)
n.3008A=
n.2625A=
n.2292A=
n.2694A=
n.1439A=
n.3324A=
n.3941T=
n.4203T=
c.4030A= (p.Thr1344=)
c.3640A= (p.Thr1214=)
c.169+1388T= (n.169+1388T=)
c.*124+1187T= (n.*124+1187T=)
c.*3377A= (n.*3377A=)
n.3103T=
c.3124A= (p.Thr1042=)
c.931A= (p.Thr311=)
c.3847A= (p.Thr1283=)
c.4123A= (p.Thr1375=)
c.3940A= (p.Thr1314=)
c.3826A= (p.Thr1276=)
c.3217A= (p.Thr1073=)
2g.47806807A>CCA346761676FBXO11,MSH6c.3733A>C (p.Thr1245Pro)
c.3646A>C (p.Thr1216Pro)
n.4704A>C
c.2464A>C (p.Thr822Pro)
c.4036A>C (p.Thr1346Pro)
c.1485A>C (n.1485A>C)
c.2803A>C (p.Thr935Pro)
n.3008A>C
n.2625A>C
n.2292A>C
n.2694A>C
n.1439A>C
n.3324A>C
n.3941T>G
n.4203T>G
c.4030A>C (p.Thr1344Pro)
c.3640A>C (p.Thr1214Pro)
c.169+1388T>G (n.169+1388T>G)
c.*124+1187T>G (n.*124+1187T>G)
c.*3377A>C (n.*3377A>C)
n.3103T>G
c.3124A>C (p.Thr1042Pro)
c.931A>C (p.Thr311Pro)
c.3847A>C (p.Thr1283Pro)
c.4123A>C (p.Thr1375Pro)
c.3940A>C (p.Thr1314Pro)
c.3826A>C (p.Thr1276Pro)
c.3217A>C (p.Thr1073Pro)
2g.47806807A>GCA346761674FBXO11,MSH6c.3733A>G (p.Thr1245Ala)
c.3646A>G (p.Thr1216Ala)
n.4704A>G
c.2464A>G (p.Thr822Ala)
c.4036A>G (p.Thr1346Ala)
c.1485A>G (n.1485A>G)
c.2803A>G (p.Thr935Ala)
n.3008A>G
n.2625A>G
n.2292A>G
n.2694A>G
n.1439A>G
n.3324A>G
n.3941T>C
n.4203T>C
c.4030A>G (p.Thr1344Ala)
c.3640A>G (p.Thr1214Ala)
c.169+1388T>C (n.169+1388T>C)
c.*124+1187T>C (n.*124+1187T>C)
c.*3377A>G (n.*3377A>G)
n.3103T>C
c.3124A>G (p.Thr1042Ala)
c.931A>G (p.Thr311Ala)
c.3847A>G (p.Thr1283Ala)
c.4123A>G (p.Thr1375Ala)
c.3940A>G (p.Thr1314Ala)
c.3826A>G (p.Thr1276Ala)
c.3217A>G (p.Thr1073Ala)
ClinVar dbSNP gnomAD v4
2g.47806807A>TCA346761675FBXO11,MSH6c.3733A>T (p.Thr1245Ser)
c.3646A>T (p.Thr1216Ser)
n.4704A>T
c.2464A>T (p.Thr822Ser)
c.4036A>T (p.Thr1346Ser)
c.1485A>T (n.1485A>T)
c.2803A>T (p.Thr935Ser)
n.3008A>T
n.2625A>T
n.2292A>T
n.2694A>T
n.1439A>T
n.3324A>T
n.3941T>A
n.4203T>A
c.4030A>T (p.Thr1344Ser)
c.3640A>T (p.Thr1214Ser)
c.169+1388T>A (n.169+1388T>A)
c.*124+1187T>A (n.*124+1187T>A)
c.*3377A>T (n.*3377A>T)
n.3103T>A
c.3124A>T (p.Thr1042Ser)
c.931A>T (p.Thr311Ser)
c.3847A>T (p.Thr1283Ser)
c.4123A>T (p.Thr1375Ser)
c.3940A>T (p.Thr1314Ser)
c.3826A>T (p.Thr1276Ser)
c.3217A>T (p.Thr1073Ser)
2g.47806807_47806816delinsACTGTAGATGCA2496054562FBXO11,MSH6c.3733_3742delinsACTGTAGATG (p.Thr1245=)
c.3646_3655delinsACTGTAGATG (p.Thr1216=)
n.4704_4713delinsACTGTAGATG
c.2464_2473delinsACTGTAGATG (p.Thr822=)
c.4036_4045delinsACTGTAGATG (p.Thr1346=)
c.1485_1494delinsACTGTAGATG (n.1485_1494delinsACTGTAGATG)
c.2803_2812delinsACTGTAGATG (p.Thr935=)
n.3008_3017delinsACTGTAGATG
n.2625_2634delinsACTGTAGATG
n.2292_2301delinsACTGTAGATG
n.2694_2703delinsACTGTAGATG
n.1439_1448delinsACTGTAGATG
n.3324_3333delinsACTGTAGATG
n.3932_3941delinsCATCTACAGT
n.4194_4203delinsCATCTACAGT
c.4030_4039delinsACTGTAGATG (p.Thr1344=)
c.3640_3649delinsACTGTAGATG (p.Thr1214=)
c.169+1379_169+1388delinsCATCTACAGT (n.169+1379_169+1388delinsCATCTACAGT)
c.*124+1178_*124+1187delinsCATCTACAGT (n.*124+1178_*124+1187delinsCATCTACAGT)
c.*3377_*3386delinsACTGTAGATG (n.*3377_*3386delinsACTGTAGATG)
n.3094_3103delinsCATCTACAGT
c.3124_3133delinsACTGTAGATG (p.Thr1042=)
c.931_940delinsACTGTAGATG (p.Thr311=)
c.3847_3856delinsACTGTAGATG (p.Thr1283=)
c.4123_4132delinsACTGTAGATG (p.Thr1375=)
c.3940_3949delinsACTGTAGATG (p.Thr1314=)
c.3826_3835delinsACTGTAGATG (p.Thr1276=)
c.3217_3226delinsACTGTAGATG (p.Thr1073=)
2g.47806808C>ACA346761677FBXO11,MSH6c.3734C>A (p.Thr1245Asn)
c.3647C>A (p.Thr1216Asn)
n.4705C>A
c.2465C>A (p.Thr822Asn)
c.4037C>A (p.Thr1346Asn)
c.1486C>A (n.1486C>A)
c.2804C>A (p.Thr935Asn)
n.3009C>A
n.2626C>A
n.2293C>A
n.2695C>A
n.1440C>A
n.3325C>A
n.3940G>T
n.4202G>T
c.4031C>A (p.Thr1344Asn)
c.3641C>A (p.Thr1214Asn)
c.169+1387G>T (n.169+1387G>T)
c.*124+1186G>T (n.*124+1186G>T)
c.*3378C>A (n.*3378C>A)
n.3102G>T
c.3125C>A (p.Thr1042Asn)
c.932C>A (p.Thr311Asn)
c.3848C>A (p.Thr1283Asn)
c.4124C>A (p.Thr1375Asn)
c.3941C>A (p.Thr1314Asn)
c.3827C>A (p.Thr1276Asn)
c.3218C>A (p.Thr1073Asn)
ClinVar dbSNP gnomAD v4
2g.47806808C=CA2496054564FBXO11,MSH6c.3734C= (p.Thr1245=)
c.3647C= (p.Thr1216=)
n.4705C=
c.2465C= (p.Thr822=)
c.4037C= (p.Thr1346=)
c.1486C= (n.1486C=)
c.2804C= (p.Thr935=)
n.3009C=
n.2626C=
n.2293C=
n.2695C=
n.1440C=
n.3325C=
n.3940G=
n.4202G=
c.4031C= (p.Thr1344=)
c.3641C= (p.Thr1214=)
c.169+1387G= (n.169+1387G=)
c.*124+1186G= (n.*124+1186G=)
c.*3378C= (n.*3378C=)
n.3102G=
c.3125C= (p.Thr1042=)
c.932C= (p.Thr311=)
c.3848C= (p.Thr1283=)
c.4124C= (p.Thr1375=)
c.3941C= (p.Thr1314=)
c.3827C= (p.Thr1276=)
c.3218C= (p.Thr1073=)
2g.47806808C>GCA346761678FBXO11,MSH6c.3734C>G (p.Thr1245Ser)
c.3647C>G (p.Thr1216Ser)
n.4705C>G
c.2465C>G (p.Thr822Ser)
c.4037C>G (p.Thr1346Ser)
c.1486C>G (n.1486C>G)
c.2804C>G (p.Thr935Ser)
n.3009C>G
n.2626C>G
n.2293C>G
n.2695C>G
n.1440C>G
n.3325C>G
n.3940G>C
n.4202G>C
c.4031C>G (p.Thr1344Ser)
c.3641C>G (p.Thr1214Ser)
c.169+1387G>C (n.169+1387G>C)
c.*124+1186G>C (n.*124+1186G>C)
c.*3378C>G (n.*3378C>G)
n.3102G>C
c.3125C>G (p.Thr1042Ser)
c.932C>G (p.Thr311Ser)
c.3848C>G (p.Thr1283Ser)
c.4124C>G (p.Thr1375Ser)
c.3941C>G (p.Thr1314Ser)
c.3827C>G (p.Thr1276Ser)
c.3218C>G (p.Thr1073Ser)
dbSNP
2g.47806808C>TCA346761679FBXO11,MSH6c.3734C>T (p.Thr1245Ile)
c.3647C>T (p.Thr1216Ile)
n.4705C>T
c.2465C>T (p.Thr822Ile)
c.4037C>T (p.Thr1346Ile)
c.1486C>T (n.1486C>T)
c.2804C>T (p.Thr935Ile)
n.3009C>T
n.2626C>T
n.2293C>T
n.2695C>T
n.1440C>T
n.3325C>T
n.3940G>A
n.4202G>A
c.4031C>T (p.Thr1344Ile)
c.3641C>T (p.Thr1214Ile)
c.169+1387G>A (n.169+1387G>A)
c.*124+1186G>A (n.*124+1186G>A)
c.*3378C>T (n.*3378C>T)
n.3102G>A
c.3125C>T (p.Thr1042Ile)
c.932C>T (p.Thr311Ile)
c.3848C>T (p.Thr1283Ile)
c.4124C>T (p.Thr1375Ile)
c.3941C>T (p.Thr1314Ile)
c.3827C>T (p.Thr1276Ile)
c.3218C>T (p.Thr1073Ile)
ClinVar dbSNP
2g.47806811_47806819delCA348238FBXO11,MSH6c.3737_3745del (p.Val1246_Ala1248del)
c.3650_3658del (p.Val1217_Ala1219del)
n.4708_4716del
c.2468_2476del (p.Val823_Ala825del)
c.4040_4048del (p.Val1347_Ala1349del)
c.1489_1497del (n.1489_1497del)
c.2807_2815del (p.Val936_Ala938del)
n.3012_3020del
n.2629_2637del
n.2296_2304del
n.2698_2706del
n.1443_1451del
n.3328_3336del
n.3932_3940del
n.4194_4202del
c.4034_4042del (p.Val1345_Ala1347del)
c.3644_3652del (p.Val1215_Ala1217del)
c.169+1379_169+1387del (n.169+1379_169+1387del)
c.*124+1178_*124+1186del (n.*124+1178_*124+1186del)
c.*3381_*3389del (n.*3381_*3389del)
n.3094_3102del
c.3128_3136del (p.Val1043_Ala1045del)
c.935_943del (p.Val312_Ala314del)
c.3851_3859del (p.Val1284_Ala1286del)
c.4127_4135del (p.Val1376_Ala1378del)
c.3944_3952del (p.Val1315_Ala1317del)
c.3830_3838del (p.Val1277_Ala1279del)
c.3221_3229del (p.Val1074_Ala1076del)
ClinVar dbSNP gnomAD v4
2g.47806809T>ACA426122268FBXO11,MSH6c.3735T>A (p.Thr1245=)
c.3648T>A (p.Thr1216=)
n.4706T>A
c.2466T>A (p.Thr822=)
c.4038T>A (p.Thr1346=)
c.1487T>A (n.1487T>A)
c.2805T>A (p.Thr935=)
n.3010T>A
n.2627T>A
n.2294T>A
n.2696T>A
n.1441T>A
n.3326T>A
n.3939A>T
n.4201A>T
c.4032T>A (p.Thr1344=)
c.3642T>A (p.Thr1214=)
c.169+1386A>T (n.169+1386A>T)
c.*124+1185A>T (n.*124+1185A>T)
c.*3379T>A (n.*3379T>A)
n.3101A>T
c.3126T>A (p.Thr1042=)
c.933T>A (p.Thr311=)
c.3849T>A (p.Thr1283=)
c.4125T>A (p.Thr1375=)
c.3942T>A (p.Thr1314=)
c.3828T>A (p.Thr1276=)
c.3219T>A (p.Thr1073=)
dbSNP
2g.47806809T>CCA426122270FBXO11,MSH6c.3735T>C (p.Thr1245=)
c.3648T>C (p.Thr1216=)
n.4706T>C
c.2466T>C (p.Thr822=)
c.4038T>C (p.Thr1346=)
c.1487T>C (n.1487T>C)
c.2805T>C (p.Thr935=)
n.3010T>C
n.2627T>C
n.2294T>C
n.2696T>C
n.1441T>C
n.3326T>C
n.3939A>G
n.4201A>G
c.4032T>C (p.Thr1344=)
c.3642T>C (p.Thr1214=)
c.169+1386A>G (n.169+1386A>G)
c.*124+1185A>G (n.*124+1185A>G)
c.*3379T>C (n.*3379T>C)
n.3101A>G
c.3126T>C (p.Thr1042=)
c.933T>C (p.Thr311=)
c.3849T>C (p.Thr1283=)
c.4125T>C (p.Thr1375=)
c.3942T>C (p.Thr1314=)
c.3828T>C (p.Thr1276=)
c.3219T>C (p.Thr1073=)
2g.47806809T>GCA426122269FBXO11,MSH6c.3735T>G (p.Thr1245=)
c.3648T>G (p.Thr1216=)
n.4706T>G
c.2466T>G (p.Thr822=)
c.4038T>G (p.Thr1346=)
c.1487T>G (n.1487T>G)
c.2805T>G (p.Thr935=)
n.3010T>G
n.2627T>G
n.2294T>G
n.2696T>G
n.1441T>G
n.3326T>G
n.3939A>C
n.4201A>C
c.4032T>G (p.Thr1344=)
c.3642T>G (p.Thr1214=)
c.169+1386A>C (n.169+1386A>C)
c.*124+1185A>C (n.*124+1185A>C)
c.*3379T>G (n.*3379T>G)
n.3101A>C
c.3126T>G (p.Thr1042=)
c.933T>G (p.Thr311=)
c.3849T>G (p.Thr1283=)
c.4125T>G (p.Thr1375=)
c.3942T>G (p.Thr1314=)
c.3828T>G (p.Thr1276=)
c.3219T>G (p.Thr1073=)
2g.47806810_47806811delCA2580067593FBXO11,MSH6c.3736_3737del (p.Val1246ArgfsTer3)
c.3649_3650del (p.Val1217ArgfsTer3)
n.4707_4708del
c.2467_2468del (p.Val823ArgfsTer3)
c.4039_4040del (p.Val1347ArgfsTer3)
c.1488_1489del (n.1488_1489del)
c.2806_2807del (p.Val936ArgfsTer3)
n.3011_3012del
n.2628_2629del
n.2295_2296del
n.2697_2698del
n.1442_1443del
n.3327_3328del
n.3938_3939del
n.4200_4201del
c.4033_4034del (p.Val1345ArgfsTer3)
c.3643_3644del (p.Val1215ArgfsTer3)
c.169+1385_169+1386del (n.169+1385_169+1386del)
c.*124+1184_*124+1185del (n.*124+1184_*124+1185del)
c.*3380_*3381del (n.*3380_*3381del)
n.3100_3101del
c.3127_3128del (p.Val1043ArgfsTer3)
c.934_935del (p.Val312ArgfsTer3)
c.3850_3851del (p.Val1284ArgfsTer3)
c.4126_4127del (p.Val1376ArgfsTer3)
c.3943_3944del (p.Val1315ArgfsTer3)
c.3829_3830del (p.Val1277ArgfsTer3)
c.3220_3221del (p.Val1074ArgfsTer3)
ClinVar
2g.47806810G>ACA072821FBXO11,MSH6c.3736G>A (p.Val1246Ile)
c.3649G>A (p.Val1217Ile)
n.4707G>A
c.2467G>A (p.Val823Ile)
c.4039G>A (p.Val1347Ile)
c.1488G>A (n.1488G>A)
c.2806G>A (p.Val936Ile)
n.3011G>A
n.2628G>A
n.2295G>A
n.2697G>A
n.1442G>A
n.3327G>A
n.3938C>T
n.4200C>T
c.4033G>A (p.Val1345Ile)
c.3643G>A (p.Val1215Ile)
c.169+1385C>T (n.169+1385C>T)
c.*124+1184C>T (n.*124+1184C>T)
c.*3380G>A (n.*3380G>A)
n.3100C>T
c.3127G>A (p.Val1043Ile)
c.934G>A (p.Val312Ile)
c.3850G>A (p.Val1284Ile)
c.4126G>A (p.Val1376Ile)
c.3943G>A (p.Val1315Ile)
c.3829G>A (p.Val1277Ile)
c.3220G>A (p.Val1074Ile)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.47806810G>CCA346761680FBXO11,MSH6c.3736G>C (p.Val1246Leu)
c.3649G>C (p.Val1217Leu)
n.4707G>C
c.2467G>C (p.Val823Leu)
c.4039G>C (p.Val1347Leu)
c.1488G>C (n.1488G>C)
c.2806G>C (p.Val936Leu)
n.3011G>C
n.2628G>C
n.2295G>C
n.2697G>C
n.1442G>C
n.3327G>C
n.3938C>G
n.4200C>G
c.4033G>C (p.Val1345Leu)
c.3643G>C (p.Val1215Leu)
c.169+1385C>G (n.169+1385C>G)
c.*124+1184C>G (n.*124+1184C>G)
c.*3380G>C (n.*3380G>C)
n.3100C>G
c.3127G>C (p.Val1043Leu)
c.934G>C (p.Val312Leu)
c.3850G>C (p.Val1284Leu)
c.4126G>C (p.Val1376Leu)
c.3943G>C (p.Val1315Leu)
c.3829G>C (p.Val1277Leu)
c.3220G>C (p.Val1074Leu)
2g.47806810G=CA2496054565FBXO11,MSH6c.3736G= (p.Val1246=)
c.3649G= (p.Val1217=)
n.4707G=
c.2467G= (p.Val823=)
c.4039G= (p.Val1347=)
c.1488G= (n.1488G=)
c.2806G= (p.Val936=)
n.3011G=
n.2628G=
n.2295G=
n.2697G=
n.1442G=
n.3327G=
n.3938C=
n.4200C=
c.4033G= (p.Val1345=)
c.3643G= (p.Val1215=)
c.169+1385C= (n.169+1385C=)
c.*124+1184C= (n.*124+1184C=)
c.*3380G= (n.*3380G=)
n.3100C=
c.3127G= (p.Val1043=)
c.934G= (p.Val312=)
c.3850G= (p.Val1284=)
c.4126G= (p.Val1376=)
c.3943G= (p.Val1315=)
c.3829G= (p.Val1277=)
c.3220G= (p.Val1074=)
2g.47806810G>TCA346761681FBXO11,MSH6c.3736G>T (p.Val1246Leu)
c.3649G>T (p.Val1217Leu)
n.4707G>T
c.2467G>T (p.Val823Leu)
c.4039G>T (p.Val1347Leu)
c.1488G>T (n.1488G>T)
c.2806G>T (p.Val936Leu)
n.3011G>T
n.2628G>T
n.2295G>T
n.2697G>T
n.1442G>T
n.3327G>T
n.3938C>A
n.4200C>A
c.4033G>T (p.Val1345Leu)
c.3643G>T (p.Val1215Leu)
c.169+1385C>A (n.169+1385C>A)
c.*124+1184C>A (n.*124+1184C>A)
c.*3380G>T (n.*3380G>T)
n.3100C>A
c.3127G>T (p.Val1043Leu)
c.934G>T (p.Val312Leu)
c.3850G>T (p.Val1284Leu)
c.4126G>T (p.Val1376Leu)
c.3943G>T (p.Val1315Leu)
c.3829G>T (p.Val1277Leu)
c.3220G>T (p.Val1074Leu)
ClinVar gnomAD v4
2g.47806811_47806877dupCA532705589FBXO11,MSH6c.3737_*17dup (n.3737_*17dup)
c.3650_*17dup (n.3650_*17dup)
n.4708_4774dup
c.2468_*17dup (n.2468_*17dup)
c.4040_*17dup (n.4040_*17dup)
c.1489_1555dup (n.1489_1555dup)
c.2807_2873dup (n.2807_2873dup)
n.2629_2695dup
n.2296_2362dup
n.2698_2764dup
n.1443_1509dup
n.3328_3394dup
n.3872_3938dup
n.4134_4200dup
c.4034_*17dup (n.4034_*17dup)
c.3644_*17dup (n.3644_*17dup)
c.169+1319_169+1385dup (n.169+1319_169+1385dup)
c.*124+1118_*124+1184dup (n.*124+1118_*124+1184dup)
c.*3381_*3447dup (n.*3381_*3447dup)
n.3034_3100dup
c.3128_*17dup (n.3128_*17dup)
c.935_*17dup (n.935_*17dup)
c.3851_*17dup (n.3851_*17dup)
c.4127_*17dup (n.4127_*17dup)
c.3944_*17dup (n.3944_*17dup)
c.3830_*17dup (n.3830_*17dup)
c.3221_*17dup (n.3221_*17dup)
gnomAD v2 gnomAD v3 gnomAD v4
2g.47806811T>ACA346761682FBXO11,MSH6c.3737T>A (p.Val1246Glu)
c.3650T>A (p.Val1217Glu)
n.4708T>A
c.2468T>A (p.Val823Glu)
c.4040T>A (p.Val1347Glu)
c.1489T>A (n.1489T>A)
c.2807T>A (p.Val936Glu)
n.3012T>A
n.2629T>A
n.2296T>A
n.2698T>A
n.1443T>A
n.3328T>A
n.3937A>T
n.4199A>T
c.4034T>A (p.Val1345Glu)
c.3644T>A (p.Val1215Glu)
c.169+1384A>T (n.169+1384A>T)
c.*124+1183A>T (n.*124+1183A>T)
c.*3381T>A (n.*3381T>A)
n.3099A>T
c.3128T>A (p.Val1043Glu)
c.935T>A (p.Val312Glu)
c.3851T>A (p.Val1284Glu)
c.4127T>A (p.Val1376Glu)
c.3944T>A (p.Val1315Glu)
c.3830T>A (p.Val1277Glu)
c.3221T>A (p.Val1074Glu)
dbSNP
2g.47806811T>CCA346761684FBXO11,MSH6c.3737T>C (p.Val1246Ala)
c.3650T>C (p.Val1217Ala)
n.4708T>C
c.2468T>C (p.Val823Ala)
c.4040T>C (p.Val1347Ala)
c.1489T>C (n.1489T>C)
c.2807T>C (p.Val936Ala)
n.3012T>C
n.2629T>C
n.2296T>C
n.2698T>C
n.1443T>C
n.3328T>C
n.3937A>G
n.4199A>G
c.4034T>C (p.Val1345Ala)
c.3644T>C (p.Val1215Ala)
c.169+1384A>G (n.169+1384A>G)
c.*124+1183A>G (n.*124+1183A>G)
c.*3381T>C (n.*3381T>C)
n.3099A>G
c.3128T>C (p.Val1043Ala)
c.935T>C (p.Val312Ala)
c.3851T>C (p.Val1284Ala)
c.4127T>C (p.Val1376Ala)
c.3944T>C (p.Val1315Ala)
c.3830T>C (p.Val1277Ala)
c.3221T>C (p.Val1074Ala)
ClinVar gnomAD v4
2g.47806811T>GCA346761683FBXO11,MSH6c.3737T>G (p.Val1246Gly)
c.3650T>G (p.Val1217Gly)
n.4708T>G
c.2468T>G (p.Val823Gly)
c.4040T>G (p.Val1347Gly)
c.1489T>G (n.1489T>G)
c.2807T>G (p.Val936Gly)
n.3012T>G
n.2629T>G
n.2296T>G
n.2698T>G
n.1443T>G
n.3328T>G
n.3937A>C
n.4199A>C
c.4034T>G (p.Val1345Gly)
c.3644T>G (p.Val1215Gly)
c.169+1384A>C (n.169+1384A>C)
c.*124+1183A>C (n.*124+1183A>C)
c.*3381T>G (n.*3381T>G)
n.3099A>C
c.3128T>G (p.Val1043Gly)
c.935T>G (p.Val312Gly)
c.3851T>G (p.Val1284Gly)
c.4127T>G (p.Val1376Gly)
c.3944T>G (p.Val1315Gly)
c.3830T>G (p.Val1277Gly)
c.3221T>G (p.Val1074Gly)
ClinVar dbSNP gnomAD v4
2g.47806811T=CA2496054566FBXO11,MSH6c.3737T= (p.Val1246=)
c.3650T= (p.Val1217=)
n.4708T=
c.2468T= (p.Val823=)
c.4040T= (p.Val1347=)
c.1489T= (n.1489T=)
c.2807T= (p.Val936=)
n.3012T=
n.2629T=
n.2296T=
n.2698T=
n.1443T=
n.3328T=
n.3937A=
n.4199A=
c.4034T= (p.Val1345=)
c.3644T= (p.Val1215=)
c.169+1384A= (n.169+1384A=)
c.*124+1183A= (n.*124+1183A=)
c.*3381T= (n.*3381T=)
n.3099A=
c.3128T= (p.Val1043=)
c.935T= (p.Val312=)
c.3851T= (p.Val1284=)
c.4127T= (p.Val1376=)
c.3944T= (p.Val1315=)
c.3830T= (p.Val1277=)
c.3221T= (p.Val1074=)
2g.47806812_47806818delCA2573134811FBXO11,MSH6c.3738_3744del (p.Asp1247LysfsTer7)
c.3651_3657del (p.Asp1218LysfsTer7)
n.4709_4715del
c.2469_2475del (p.Asp824LysfsTer7)
c.4041_4047del (p.Asp1348LysfsTer7)
c.1490_1496del (n.1490_1496del)
c.2808_2814del (p.Asp937LysfsTer7)
n.3013_3019del
n.2630_2636del
n.2297_2303del
n.2699_2705del
n.1444_1450del
n.3329_3335del
n.3931_3937del
n.4193_4199del
c.4035_4041del (p.Asp1346LysfsTer7)
c.3645_3651del (p.Asp1216LysfsTer7)
c.169+1378_169+1384del (n.169+1378_169+1384del)
c.*124+1177_*124+1183del (n.*124+1177_*124+1183del)
c.*3382_*3388del (n.*3382_*3388del)
n.3093_3099del
c.3129_3135del (p.Asp1044LysfsTer7)
c.936_942del (p.Asp313LysfsTer7)
c.3852_3858del (p.Asp1285LysfsTer7)
c.4128_4134del (p.Asp1377LysfsTer7)
c.3945_3951del (p.Asp1316LysfsTer7)
c.3831_3837del (p.Asp1278LysfsTer7)
c.3222_3228del (p.Asp1075LysfsTer7)
ClinVar dbSNP
2g.47806812A>CCA426122271FBXO11,MSH6c.3738A>C (p.Val1246=)
c.3651A>C (p.Val1217=)
n.4709A>C
c.2469A>C (p.Val823=)
c.4041A>C (p.Val1347=)
c.1490A>C (n.1490A>C)
c.2808A>C (p.Val936=)
n.3013A>C
n.2630A>C
n.2297A>C
n.2699A>C
n.1444A>C
n.3329A>C
n.3936T>G
n.4198T>G
c.4035A>C (p.Val1345=)
c.3645A>C (p.Val1215=)
c.169+1383T>G (n.169+1383T>G)
c.*124+1182T>G (n.*124+1182T>G)
c.*3382A>C (n.*3382A>C)
n.3098T>G
c.3129A>C (p.Val1043=)
c.936A>C (p.Val312=)
c.3852A>C (p.Val1284=)
c.4128A>C (p.Val1376=)
c.3945A>C (p.Val1315=)
c.3831A>C (p.Val1277=)
c.3222A>C (p.Val1074=)
2g.47806812A>GCA426122272FBXO11,MSH6c.3738A>G (p.Val1246=)
c.3651A>G (p.Val1217=)
n.4709A>G
c.2469A>G (p.Val823=)
c.4041A>G (p.Val1347=)
c.1490A>G (n.1490A>G)
c.2808A>G (p.Val936=)
n.3013A>G
n.2630A>G
n.2297A>G
n.2699A>G
n.1444A>G
n.3329A>G
n.3936T>C
n.4198T>C
c.4035A>G (p.Val1345=)
c.3645A>G (p.Val1215=)
c.169+1383T>C (n.169+1383T>C)
c.*124+1182T>C (n.*124+1182T>C)
c.*3382A>G (n.*3382A>G)
n.3098T>C
c.3129A>G (p.Val1043=)
c.936A>G (p.Val312=)
c.3852A>G (p.Val1284=)
c.4128A>G (p.Val1376=)
c.3945A>G (p.Val1315=)
c.3831A>G (p.Val1277=)
c.3222A>G (p.Val1074=)
ClinVar dbSNP
2g.47806812A>TCA426122273FBXO11,MSH6c.3738A>T (p.Val1246=)
c.3651A>T (p.Val1217=)
n.4709A>T
c.2469A>T (p.Val823=)
c.4041A>T (p.Val1347=)
c.1490A>T (n.1490A>T)
c.2808A>T (p.Val936=)
n.3013A>T
n.2630A>T
n.2297A>T
n.2699A>T
n.1444A>T
n.3329A>T
n.3936T>A
n.4198T>A
c.4035A>T (p.Val1345=)
c.3645A>T (p.Val1215=)
c.169+1383T>A (n.169+1383T>A)
c.*124+1182T>A (n.*124+1182T>A)
c.*3382A>T (n.*3382A>T)
n.3098T>A
c.3129A>T (p.Val1043=)
c.936A>T (p.Val312=)
c.3852A>T (p.Val1284=)
c.4128A>T (p.Val1376=)
c.3945A>T (p.Val1315=)
c.3831A>T (p.Val1277=)
c.3222A>T (p.Val1074=)
ClinVar
2g.47806813G>ACA072825FBXO11,MSH6c.3739G>A (p.Asp1247Asn)
c.3652G>A (p.Asp1218Asn)
n.4710G>A
c.2470G>A (p.Asp824Asn)
c.4042G>A (p.Asp1348Asn)
c.1491G>A (n.1491G>A)
c.2809G>A (p.Asp937Asn)
n.3014G>A
n.2631G>A
n.2298G>A
n.2700G>A
n.1445G>A
n.3330G>A
n.3935C>T
n.4197C>T
c.4036G>A (p.Asp1346Asn)
c.3646G>A (p.Asp1216Asn)
c.169+1382C>T (n.169+1382C>T)
c.*124+1181C>T (n.*124+1181C>T)
c.*3383G>A (n.*3383G>A)
n.3097C>T
c.3130G>A (p.Asp1044Asn)
c.937G>A (p.Asp313Asn)
c.3853G>A (p.Asp1285Asn)
c.4129G>A (p.Asp1377Asn)
c.3946G>A (p.Asp1316Asn)
c.3832G>A (p.Asp1278Asn)
c.3223G>A (p.Asp1075Asn)
ClinVar dbSNP ExAC gnomAD v2
2g.47806813G>CCA346761685FBXO11,MSH6c.3739G>C (p.Asp1247His)
c.3652G>C (p.Asp1218His)
n.4710G>C
c.2470G>C (p.Asp824His)
c.4042G>C (p.Asp1348His)
c.1491G>C (n.1491G>C)
c.2809G>C (p.Asp937His)
n.3014G>C
n.2631G>C
n.2298G>C
n.2700G>C
n.1445G>C
n.3330G>C
n.3935C>G
n.4197C>G
c.4036G>C (p.Asp1346His)
c.3646G>C (p.Asp1216His)
c.169+1382C>G (n.169+1382C>G)
c.*124+1181C>G (n.*124+1181C>G)
c.*3383G>C (n.*3383G>C)
n.3097C>G
c.3130G>C (p.Asp1044His)
c.937G>C (p.Asp313His)
c.3853G>C (p.Asp1285His)
c.4129G>C (p.Asp1377His)
c.3946G>C (p.Asp1316His)
c.3832G>C (p.Asp1278His)
c.3223G>C (p.Asp1075His)
dbSNP
2g.47806813G=CA2496054567FBXO11,MSH6c.3739G= (p.Asp1247=)
c.3652G= (p.Asp1218=)
n.4710G=
c.2470G= (p.Asp824=)
c.4042G= (p.Asp1348=)
c.1491G= (n.1491G=)
c.2809G= (p.Asp937=)
n.3014G=
n.2631G=
n.2298G=
n.2700G=
n.1445G=
n.3330G=
n.3935C=
n.4197C=
c.4036G= (p.Asp1346=)
c.3646G= (p.Asp1216=)
c.169+1382C= (n.169+1382C=)
c.*124+1181C= (n.*124+1181C=)
c.*3383G= (n.*3383G=)
n.3097C=
c.3130G= (p.Asp1044=)
c.937G= (p.Asp313=)
c.3853G= (p.Asp1285=)
c.4129G= (p.Asp1377=)
c.3946G= (p.Asp1316=)
c.3832G= (p.Asp1278=)
c.3223G= (p.Asp1075=)
2g.47806813G>TCA346761686FBXO11,MSH6c.3739G>T (p.Asp1247Tyr)
c.3652G>T (p.Asp1218Tyr)
n.4710G>T
c.2470G>T (p.Asp824Tyr)
c.4042G>T (p.Asp1348Tyr)
c.1491G>T (n.1491G>T)
c.2809G>T (p.Asp937Tyr)
n.3014G>T
n.2631G>T
n.2298G>T
n.2700G>T
n.1445G>T
n.3330G>T
n.3935C>A
n.4197C>A
c.4036G>T (p.Asp1346Tyr)
c.3646G>T (p.Asp1216Tyr)
c.169+1382C>A (n.169+1382C>A)
c.*124+1181C>A (n.*124+1181C>A)
c.*3383G>T (n.*3383G>T)
n.3097C>A
c.3130G>T (p.Asp1044Tyr)
c.937G>T (p.Asp313Tyr)
c.3853G>T (p.Asp1285Tyr)
c.4129G>T (p.Asp1377Tyr)
c.3946G>T (p.Asp1316Tyr)
c.3832G>T (p.Asp1278Tyr)
c.3223G>T (p.Asp1075Tyr)
ClinVar dbSNP
2g.47806814_47806816dupCA2576961638FBXO11,MSH6c.3740_3742dup (p.Asp1247_Ala1248insAsp)
c.3653_3655dup (p.Asp1218_Ala1219insAsp)
n.4711_4713dup
c.2471_2473dup (p.Asp824_Ala825insAsp)
c.4043_4045dup (p.Asp1348_Ala1349insAsp)
c.1492_1494dup (n.1492_1494dup)
c.2810_2812dup (p.Asp937_Ala938insAsp)
n.3015_3017dup
n.2632_2634dup
n.2299_2301dup
n.2701_2703dup
n.1446_1448dup
n.3331_3333dup
n.3933_3935dup
n.4195_4197dup
c.4037_4039dup (p.Asp1346_Ala1347insAsp)
c.3647_3649dup (p.Asp1216_Ala1217insAsp)
c.169+1380_169+1382dup (n.169+1380_169+1382dup)
c.*124+1179_*124+1181dup (n.*124+1179_*124+1181dup)
c.*3384_*3386dup (n.*3384_*3386dup)
n.3095_3097dup
c.3131_3133dup (p.Asp1044_Ala1045insAsp)
c.938_940dup (p.Asp313_Ala314insAsp)
c.3854_3856dup (p.Asp1285_Ala1286insAsp)
c.4130_4132dup (p.Asp1377_Ala1378insAsp)
c.3947_3949dup (p.Asp1316_Ala1317insAsp)
c.3833_3835dup (p.Asp1278_Ala1279insAsp)
c.3224_3226dup (p.Asp1075_Ala1076insAsp)
2g.47806813_47806826dupCA2580067594FBXO11,MSH6c.3739_3752dup (p.His1252MetfsTer9)
c.3652_3665dup (p.His1223MetfsTer9)
n.4710_4723dup
c.2470_2483dup (p.His829MetfsTer9)
c.4042_4055dup (p.His1353MetfsTer9)
c.1491_1504dup (n.1491_1504dup)
c.2809_2822dup (p.His942MetfsTer9)
n.3014_3027dup
n.2631_2644dup
n.2298_2311dup
n.2700_2713dup
n.1445_1458dup
n.3330_3343dup
n.3922_3935dup
n.4184_4197dup
c.4036_4049dup (p.His1351MetfsTer9)
c.3646_3659dup (p.His1221MetfsTer9)
c.169+1369_169+1382dup (n.169+1369_169+1382dup)
c.*124+1168_*124+1181dup (n.*124+1168_*124+1181dup)
c.*3383_*3396dup (n.*3383_*3396dup)
n.3084_3097dup
c.3130_3143dup (p.His1049MetfsTer9)
c.937_950dup (p.His318MetfsTer9)
c.3853_3866dup (p.His1290MetfsTer9)
c.4129_4142dup (p.His1382MetfsTer9)
c.3946_3959dup (p.His1321MetfsTer9)
c.3832_3845dup (p.His1283MetfsTer9)
c.3223_3236dup (p.His1080MetfsTer9)
ClinVar
2g.47806814_47806836dupCA2658970477FBXO11,MSH6c.3740_3762dup (p.Leu1255MetfsTer9)
c.3653_3675dup (p.Leu1226MetfsTer9)
n.4711_4733dup
c.2471_2493dup (p.Leu832MetfsTer9)
c.4043_4065dup (p.Leu1356MetfsTer9)
c.1492_1514dup (n.1492_1514dup)
c.2810_2832dup (p.Leu945MetfsTer9)
n.3015_3037dup
n.2632_2654dup
n.2299_2321dup
n.2701_2723dup
n.1446_1468dup
n.3331_3353dup
n.3913_3935dup
n.4175_4197dup
c.4037_4059dup (p.Leu1354MetfsTer9)
c.3647_3669dup (p.Leu1224MetfsTer9)
c.169+1360_169+1382dup (n.169+1360_169+1382dup)
c.*124+1159_*124+1181dup (n.*124+1159_*124+1181dup)
c.*3384_*3406dup (n.*3384_*3406dup)
n.3075_3097dup
c.3131_3153dup (p.Leu1052MetfsTer9)
c.938_960dup (p.Leu321MetfsTer9)
c.3854_3876dup (p.Leu1293MetfsTer9)
c.4130_4152dup (p.Leu1385MetfsTer9)
c.3947_3969dup (p.Leu1324MetfsTer9)
c.3833_3855dup (p.Leu1286MetfsTer9)
c.3224_3246dup (p.Leu1083MetfsTer9)
gnomAD v4
2g.47806814A=CA2496054568FBXO11,MSH6c.3740A= (p.Asp1247=)
c.3653A= (p.Asp1218=)
n.4711A=
c.2471A= (p.Asp824=)
c.4043A= (p.Asp1348=)
c.1492A= (n.1492A=)
c.2810A= (p.Asp937=)
n.3015A=
n.2632A=
n.2299A=
n.2701A=
n.1446A=
n.3331A=
n.3934T=
n.4196T=
c.4037A= (p.Asp1346=)
c.3647A= (p.Asp1216=)
c.169+1381T= (n.169+1381T=)
c.*124+1180T= (n.*124+1180T=)
c.*3384A= (n.*3384A=)
n.3096T=
c.3131A= (p.Asp1044=)
c.938A= (p.Asp313=)
c.3854A= (p.Asp1285=)
c.4130A= (p.Asp1377=)
c.3947A= (p.Asp1316=)
c.3833A= (p.Asp1278=)
c.3224A= (p.Asp1075=)
2g.47806814A>CCA346761687FBXO11,MSH6c.3740A>C (p.Asp1247Ala)
c.3653A>C (p.Asp1218Ala)
n.4711A>C
c.2471A>C (p.Asp824Ala)
c.4043A>C (p.Asp1348Ala)
c.1492A>C (n.1492A>C)
c.2810A>C (p.Asp937Ala)
n.3015A>C
n.2632A>C
n.2299A>C
n.2701A>C
n.1446A>C
n.3331A>C
n.3934T>G
n.4196T>G
c.4037A>C (p.Asp1346Ala)
c.3647A>C (p.Asp1216Ala)
c.169+1381T>G (n.169+1381T>G)
c.*124+1180T>G (n.*124+1180T>G)
c.*3384A>C (n.*3384A>C)
n.3096T>G
c.3131A>C (p.Asp1044Ala)
c.938A>C (p.Asp313Ala)
c.3854A>C (p.Asp1285Ala)
c.4130A>C (p.Asp1377Ala)
c.3947A>C (p.Asp1316Ala)
c.3833A>C (p.Asp1278Ala)
c.3224A>C (p.Asp1075Ala)
ClinVar dbSNP gnomAD v4
2g.47806814A>GCA346761688FBXO11,MSH6c.3740A>G (p.Asp1247Gly)
c.3653A>G (p.Asp1218Gly)
n.4711A>G
c.2471A>G (p.Asp824Gly)
c.4043A>G (p.Asp1348Gly)
c.1492A>G (n.1492A>G)
c.2810A>G (p.Asp937Gly)
n.3015A>G
n.2632A>G
n.2299A>G
n.2701A>G
n.1446A>G
n.3331A>G
n.3934T>C
n.4196T>C
c.4037A>G (p.Asp1346Gly)
c.3647A>G (p.Asp1216Gly)
c.169+1381T>C (n.169+1381T>C)
c.*124+1180T>C (n.*124+1180T>C)
c.*3384A>G (n.*3384A>G)
n.3096T>C
c.3131A>G (p.Asp1044Gly)
c.938A>G (p.Asp313Gly)
c.3854A>G (p.Asp1285Gly)
c.4130A>G (p.Asp1377Gly)
c.3947A>G (p.Asp1316Gly)
c.3833A>G (p.Asp1278Gly)
c.3224A>G (p.Asp1075Gly)
ClinVar dbSNP
2g.47806814A>TCA346761689FBXO11,MSH6c.3740A>T (p.Asp1247Val)
c.3653A>T (p.Asp1218Val)
n.4711A>T
c.2471A>T (p.Asp824Val)
c.4043A>T (p.Asp1348Val)
c.1492A>T (n.1492A>T)
c.2810A>T (p.Asp937Val)
n.3015A>T
n.2632A>T
n.2299A>T
n.2701A>T
n.1446A>T
n.3331A>T
n.3934T>A
n.4196T>A
c.4037A>T (p.Asp1346Val)
c.3647A>T (p.Asp1216Val)
c.169+1381T>A (n.169+1381T>A)
c.*124+1180T>A (n.*124+1180T>A)
c.*3384A>T (n.*3384A>T)
n.3096T>A
c.3131A>T (p.Asp1044Val)
c.938A>T (p.Asp313Val)
c.3854A>T (p.Asp1285Val)
c.4130A>T (p.Asp1377Val)
c.3947A>T (p.Asp1316Val)
c.3833A>T (p.Asp1278Val)
c.3224A>T (p.Asp1075Val)
dbSNP gnomAD v2 gnomAD v4
2g.47806815T>ACA346761690FBXO11,MSH6c.3741T>A (p.Asp1247Glu)
c.3654T>A (p.Asp1218Glu)
n.4712T>A
c.2472T>A (p.Asp824Glu)
c.4044T>A (p.Asp1348Glu)
c.1493T>A (n.1493T>A)
c.2811T>A (p.Asp937Glu)
n.3016T>A
n.2633T>A
n.2300T>A
n.2702T>A
n.1447T>A
n.3332T>A
n.3933A>T
n.4195A>T
c.4038T>A (p.Asp1346Glu)
c.3648T>A (p.Asp1216Glu)
c.169+1380A>T (n.169+1380A>T)
c.*124+1179A>T (n.*124+1179A>T)
c.*3385T>A (n.*3385T>A)
n.3095A>T
c.3132T>A (p.Asp1044Glu)
c.939T>A (p.Asp313Glu)
c.3855T>A (p.Asp1285Glu)
c.4131T>A (p.Asp1377Glu)
c.3948T>A (p.Asp1316Glu)
c.3834T>A (p.Asp1278Glu)
c.3225T>A (p.Asp1075Glu)
ClinVar dbSNP
2g.47806815T>CCA426122274FBXO11,MSH6c.3741T>C (p.Asp1247=)
c.3654T>C (p.Asp1218=)
n.4712T>C
c.2472T>C (p.Asp824=)
c.4044T>C (p.Asp1348=)
c.1493T>C (n.1493T>C)
c.2811T>C (p.Asp937=)
n.3016T>C
n.2633T>C
n.2300T>C
n.2702T>C
n.1447T>C
n.3332T>C
n.3933A>G
n.4195A>G
c.4038T>C (p.Asp1346=)
c.3648T>C (p.Asp1216=)
c.169+1380A>G (n.169+1380A>G)
c.*124+1179A>G (n.*124+1179A>G)
c.*3385T>C (n.*3385T>C)
n.3095A>G
c.3132T>C (p.Asp1044=)
c.939T>C (p.Asp313=)
c.3855T>C (p.Asp1285=)
c.4131T>C (p.Asp1377=)
c.3948T>C (p.Asp1316=)
c.3834T>C (p.Asp1278=)
c.3225T>C (p.Asp1075=)
2g.47806815T>GCA346761691FBXO11,MSH6c.3741T>G (p.Asp1247Glu)
c.3654T>G (p.Asp1218Glu)
n.4712T>G
c.2472T>G (p.Asp824Glu)
c.4044T>G (p.Asp1348Glu)
c.1493T>G (n.1493T>G)
c.2811T>G (p.Asp937Glu)
n.3016T>G
n.2633T>G
n.2300T>G
n.2702T>G
n.1447T>G
n.3332T>G
n.3933A>C
n.4195A>C
c.4038T>G (p.Asp1346Glu)
c.3648T>G (p.Asp1216Glu)
c.169+1380A>C (n.169+1380A>C)
c.*124+1179A>C (n.*124+1179A>C)
c.*3385T>G (n.*3385T>G)
n.3095A>C
c.3132T>G (p.Asp1044Glu)
c.939T>G (p.Asp313Glu)
c.3855T>G (p.Asp1285Glu)
c.4131T>G (p.Asp1377Glu)
c.3948T>G (p.Asp1316Glu)
c.3834T>G (p.Asp1278Glu)
c.3225T>G (p.Asp1075Glu)
dbSNP
2g.47806817_47806819delCA2658970478FBXO11,MSH6c.3743_3745del (p.Ala1248del)
c.3656_3658del (p.Ala1219del)
n.4714_4716del
c.2474_2476del (p.Ala825del)
c.4046_4048del (p.Ala1349del)
c.1495_1497del (n.1495_1497del)
c.2813_2815del (p.Ala938del)
n.3018_3020del
n.2635_2637del
n.2302_2304del
n.2704_2706del
n.1449_1451del
n.3334_3336del
n.3931_3933del
n.4193_4195del
c.4040_4042del (p.Ala1347del)
c.3650_3652del (p.Ala1217del)
c.169+1378_169+1380del (n.169+1378_169+1380del)
c.*124+1177_*124+1179del (n.*124+1177_*124+1179del)
c.*3387_*3389del (n.*3387_*3389del)
n.3093_3095del
c.3134_3136del (p.Ala1045del)
c.941_943del (p.Ala314del)
c.3857_3859del (p.Ala1286del)
c.4133_4135del (p.Ala1378del)
c.3950_3952del (p.Ala1317del)
c.3836_3838del (p.Ala1279del)
c.3227_3229del (p.Ala1076del)
gnomAD v4
2g.47806816G>ACA346761692FBXO11,MSH6c.3742G>A (p.Ala1248Thr)
c.3655G>A (p.Ala1219Thr)
n.4713G>A
c.2473G>A (p.Ala825Thr)
c.4045G>A (p.Ala1349Thr)
c.1494G>A (n.1494G>A)
c.2812G>A (p.Ala938Thr)
n.3017G>A
n.2634G>A
n.2301G>A
n.2703G>A
n.1448G>A
n.3333G>A
n.3932C>T
n.4194C>T
c.4039G>A (p.Ala1347Thr)
c.3649G>A (p.Ala1217Thr)
c.169+1379C>T (n.169+1379C>T)
c.*124+1178C>T (n.*124+1178C>T)
c.*3386G>A (n.*3386G>A)
n.3094C>T
c.3133G>A (p.Ala1045Thr)
c.940G>A (p.Ala314Thr)
c.3856G>A (p.Ala1286Thr)
c.4132G>A (p.Ala1378Thr)
c.3949G>A (p.Ala1317Thr)
c.3835G>A (p.Ala1279Thr)
c.3226G>A (p.Ala1076Thr)
dbSNP
2g.47806816G>CCA015325FBXO11,MSH6c.3742G>C (p.Ala1248Pro)
c.3655G>C (p.Ala1219Pro)
n.4713G>C
c.2473G>C (p.Ala825Pro)
c.4045G>C (p.Ala1349Pro)
c.1494G>C (n.1494G>C)
c.2812G>C (p.Ala938Pro)
n.3017G>C
n.2634G>C
n.2301G>C
n.2703G>C
n.1448G>C
n.3333G>C
n.3932C>G
n.4194C>G
c.4039G>C (p.Ala1347Pro)
c.3649G>C (p.Ala1217Pro)
c.169+1379C>G (n.169+1379C>G)
c.*124+1178C>G (n.*124+1178C>G)
c.*3386G>C (n.*3386G>C)
n.3094C>G
c.3133G>C (p.Ala1045Pro)
c.940G>C (p.Ala314Pro)
c.3856G>C (p.Ala1286Pro)
c.4132G>C (p.Ala1378Pro)
c.3949G>C (p.Ala1317Pro)
c.3835G>C (p.Ala1279Pro)
c.3226G>C (p.Ala1076Pro)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.47806816G=CA2496054569FBXO11,MSH6c.3742G= (p.Ala1248=)
c.3655G= (p.Ala1219=)
n.4713G=
c.2473G= (p.Ala825=)
c.4045G= (p.Ala1349=)
c.1494G= (n.1494G=)
c.2812G= (p.Ala938=)
n.3017G=
n.2634G=
n.2301G=
n.2703G=
n.1448G=
n.3333G=
n.3932C=
n.4194C=
c.4039G= (p.Ala1347=)
c.3649G= (p.Ala1217=)
c.169+1379C= (n.169+1379C=)
c.*124+1178C= (n.*124+1178C=)
c.*3386G= (n.*3386G=)
n.3094C=
c.3133G= (p.Ala1045=)
c.940G= (p.Ala314=)
c.3856G= (p.Ala1286=)
c.4132G= (p.Ala1378=)
c.3949G= (p.Ala1317=)
c.3835G= (p.Ala1279=)
c.3226G= (p.Ala1076=)
2g.47806816G>TCA346761693FBXO11,MSH6c.3742G>T (p.Ala1248Ser)
c.3655G>T (p.Ala1219Ser)
n.4713G>T
c.2473G>T (p.Ala825Ser)
c.4045G>T (p.Ala1349Ser)
c.1494G>T (n.1494G>T)
c.2812G>T (p.Ala938Ser)
n.3017G>T
n.2634G>T
n.2301G>T
n.2703G>T
n.1448G>T
n.3333G>T
n.3932C>A
n.4194C>A
c.4039G>T (p.Ala1347Ser)
c.3649G>T (p.Ala1217Ser)
c.169+1379C>A (n.169+1379C>A)
c.*124+1178C>A (n.*124+1178C>A)
c.*3386G>T (n.*3386G>T)
n.3094C>A
c.3133G>T (p.Ala1045Ser)
c.940G>T (p.Ala314Ser)
c.3856G>T (p.Ala1286Ser)
c.4132G>T (p.Ala1378Ser)
c.3949G>T (p.Ala1317Ser)
c.3835G>T (p.Ala1279Ser)
c.3226G>T (p.Ala1076Ser)
gnomAD v4
2g.47806817C>ACA346761696FBXO11,MSH6c.3743C>A (p.Ala1248Asp)
c.3656C>A (p.Ala1219Asp)
n.4714C>A
c.2474C>A (p.Ala825Asp)
c.4046C>A (p.Ala1349Asp)
c.1495C>A (n.1495C>A)
c.2813C>A (p.Ala938Asp)
n.3018C>A
n.2635C>A
n.2302C>A
n.2704C>A
n.1449C>A
n.3334C>A
n.3931G>T
n.4193G>T
c.4040C>A (p.Ala1347Asp)
c.3650C>A (p.Ala1217Asp)
c.169+1378G>T (n.169+1378G>T)
c.*124+1177G>T (n.*124+1177G>T)
c.*3387C>A (n.*3387C>A)
n.3093G>T
c.3134C>A (p.Ala1045Asp)
c.941C>A (p.Ala314Asp)
c.3857C>A (p.Ala1286Asp)
c.4133C>A (p.Ala1378Asp)
c.3950C>A (p.Ala1317Asp)
c.3836C>A (p.Ala1279Asp)
c.3227C>A (p.Ala1076Asp)
dbSNP gnomAD v4
2g.47806817C=CA2496054570FBXO11,MSH6c.3743C= (p.Ala1248=)
c.3656C= (p.Ala1219=)
n.4714C=
c.2474C= (p.Ala825=)
c.4046C= (p.Ala1349=)
c.1495C= (n.1495C=)
c.2813C= (p.Ala938=)
n.3018C=
n.2635C=
n.2302C=
n.2704C=
n.1449C=
n.3334C=
n.3931G=
n.4193G=
c.4040C= (p.Ala1347=)
c.3650C= (p.Ala1217=)
c.169+1378G= (n.169+1378G=)
c.*124+1177G= (n.*124+1177G=)
c.*3387C= (n.*3387C=)
n.3093G=
c.3134C= (p.Ala1045=)
c.941C= (p.Ala314=)
c.3857C= (p.Ala1286=)
c.4133C= (p.Ala1378=)
c.3950C= (p.Ala1317=)
c.3836C= (p.Ala1279=)
c.3227C= (p.Ala1076=)
2g.47806817C>GCA346761695FBXO11,MSH6c.3743C>G (p.Ala1248Gly)
c.3656C>G (p.Ala1219Gly)
n.4714C>G
c.2474C>G (p.Ala825Gly)
c.4046C>G (p.Ala1349Gly)
c.1495C>G (n.1495C>G)
c.2813C>G (p.Ala938Gly)
n.3018C>G
n.2635C>G
n.2302C>G
n.2704C>G
n.1449C>G
n.3334C>G
n.3931G>C
n.4193G>C
c.4040C>G (p.Ala1347Gly)
c.3650C>G (p.Ala1217Gly)
c.169+1378G>C (n.169+1378G>C)
c.*124+1177G>C (n.*124+1177G>C)
c.*3387C>G (n.*3387C>G)
n.3093G>C
c.3134C>G (p.Ala1045Gly)
c.941C>G (p.Ala314Gly)
c.3857C>G (p.Ala1286Gly)
c.4133C>G (p.Ala1378Gly)
c.3950C>G (p.Ala1317Gly)
c.3836C>G (p.Ala1279Gly)
c.3227C>G (p.Ala1076Gly)
ClinVar dbSNP
2g.47806817C>TCA346761694FBXO11,MSH6c.3743C>T (p.Ala1248Val)
c.3656C>T (p.Ala1219Val)
n.4714C>T
c.2474C>T (p.Ala825Val)
c.4046C>T (p.Ala1349Val)
c.1495C>T (n.1495C>T)
c.2813C>T (p.Ala938Val)
n.3018C>T
n.2635C>T
n.2302C>T
n.2704C>T
n.1449C>T
n.3334C>T
n.3931G>A
n.4193G>A
c.4040C>T (p.Ala1347Val)
c.3650C>T (p.Ala1217Val)
c.169+1378G>A (n.169+1378G>A)
c.*124+1177G>A (n.*124+1177G>A)
c.*3387C>T (n.*3387C>T)
n.3093G>A
c.3134C>T (p.Ala1045Val)
c.941C>T (p.Ala314Val)
c.3857C>T (p.Ala1286Val)
c.4133C>T (p.Ala1378Val)
c.3950C>T (p.Ala1317Val)
c.3836C>T (p.Ala1279Val)
c.3227C>T (p.Ala1076Val)
dbSNP gnomAD v4
2g.47806818T>ACA426122275FBXO11,MSH6c.3744T>A (p.Ala1248=)
c.3657T>A (p.Ala1219=)
n.4715T>A
c.2475T>A (p.Ala825=)
c.4047T>A (p.Ala1349=)
c.1496T>A (n.1496T>A)
c.2814T>A (p.Ala938=)
n.3019T>A
n.2636T>A
n.2303T>A
n.2705T>A
n.1450T>A
n.3335T>A
n.3930A>T
n.4192A>T
c.4041T>A (p.Ala1347=)
c.3651T>A (p.Ala1217=)
c.169+1377A>T (n.169+1377A>T)
c.*124+1176A>T (n.*124+1176A>T)
c.*3388T>A (n.*3388T>A)
n.3092A>T
c.3135T>A (p.Ala1045=)
c.942T>A (p.Ala314=)
c.3858T>A (p.Ala1286=)
c.4134T>A (p.Ala1378=)
c.3951T>A (p.Ala1317=)
c.3837T>A (p.Ala1279=)
c.3228T>A (p.Ala1076=)
ClinVar dbSNP
2g.47806818T>CCA426122276FBXO11,MSH6c.3744T>C (p.Ala1248=)
c.3657T>C (p.Ala1219=)
n.4715T>C
c.2475T>C (p.Ala825=)
c.4047T>C (p.Ala1349=)
c.1496T>C (n.1496T>C)
c.2814T>C (p.Ala938=)
n.3019T>C
n.2636T>C
n.2303T>C
n.2705T>C
n.1450T>C
n.3335T>C
n.3930A>G
n.4192A>G
c.4041T>C (p.Ala1347=)
c.3651T>C (p.Ala1217=)
c.169+1377A>G (n.169+1377A>G)
c.*124+1176A>G (n.*124+1176A>G)
c.*3388T>C (n.*3388T>C)
n.3092A>G
c.3135T>C (p.Ala1045=)
c.942T>C (p.Ala314=)
c.3858T>C (p.Ala1286=)
c.4134T>C (p.Ala1378=)
c.3951T>C (p.Ala1317=)
c.3837T>C (p.Ala1279=)
c.3228T>C (p.Ala1076=)
ClinVar
2g.47806818T>GCA426122277FBXO11,MSH6c.3744T>G (p.Ala1248=)
c.3657T>G (p.Ala1219=)
n.4715T>G
c.2475T>G (p.Ala825=)
c.4047T>G (p.Ala1349=)
c.1496T>G (n.1496T>G)
c.2814T>G (p.Ala938=)
n.3019T>G
n.2636T>G
n.2303T>G
n.2705T>G
n.1450T>G
n.3335T>G
n.3930A>C
n.4192A>C
c.4041T>G (p.Ala1347=)
c.3651T>G (p.Ala1217=)
c.169+1377A>C (n.169+1377A>C)
c.*124+1176A>C (n.*124+1176A>C)
c.*3388T>G (n.*3388T>G)
n.3092A>C
c.3135T>G (p.Ala1045=)
c.942T>G (p.Ala314=)
c.3858T>G (p.Ala1286=)
c.4134T>G (p.Ala1378=)
c.3951T>G (p.Ala1317=)
c.3837T>G (p.Ala1279=)
c.3228T>G (p.Ala1076=)
2g.47806818T=CA2496054571FBXO11,MSH6c.3744T= (p.Ala1248=)
c.3657T= (p.Ala1219=)
n.4715T=
c.2475T= (p.Ala825=)
c.4047T= (p.Ala1349=)
c.1496T= (n.1496T=)
c.2814T= (p.Ala938=)
n.3019T=
n.2636T=
n.2303T=
n.2705T=
n.1450T=
n.3335T=
n.3930A=
n.4192A=
c.4041T= (p.Ala1347=)
c.3651T= (p.Ala1217=)
c.169+1377A= (n.169+1377A=)
c.*124+1176A= (n.*124+1176A=)
c.*3388T= (n.*3388T=)
n.3092A=
c.3135T= (p.Ala1045=)
c.942T= (p.Ala314=)
c.3858T= (p.Ala1286=)
c.4134T= (p.Ala1378=)
c.3951T= (p.Ala1317=)
c.3837T= (p.Ala1279=)
c.3228T= (p.Ala1076=)
2g.47806819_47806830delCA2658970479FBXO11,MSH6c.3745_3756del (p.Glu1249_His1252del)
c.3658_3669del (p.Glu1220_His1223del)
n.4716_4727del
c.2476_2487del (p.Glu826_His829del)
c.4048_4059del (p.Glu1350_His1353del)
c.1497_1508del (n.1497_1508del)
c.2815_2826del (p.Glu939_His942del)
n.3020_3031del
n.2637_2648del
n.2304_2315del
n.2706_2717del
n.1451_1462del
n.3336_3347del
n.3919_3930del
n.4181_4192del
c.4042_4053del (p.Glu1348_His1351del)
c.3652_3663del (p.Glu1218_His1221del)
c.169+1366_169+1377del (n.169+1366_169+1377del)
c.*124+1165_*124+1176del (n.*124+1165_*124+1176del)
c.*3389_*3400del (n.*3389_*3400del)
n.3081_3092del
c.3136_3147del (p.Glu1046_His1049del)
c.943_954del (p.Glu315_His318del)
c.3859_3870del (p.Glu1287_His1290del)
c.4135_4146del (p.Glu1379_His1382del)
c.3952_3963del (p.Glu1318_His1321del)
c.3838_3849del (p.Glu1280_His1283del)
c.3229_3240del (p.Glu1077_His1080del)
gnomAD v4
2g.47806818_47806849dupCA2582342384FBXO11,MSH6c.3744_3775dup (p.Lys1259MetfsTer8)
c.3657_3688dup (p.Lys1230MetfsTer8)
n.4715_4746dup
c.2475_2506dup (p.Lys836MetfsTer8)
c.4047_4078dup (p.Lys1360MetfsTer8)
c.1496_1527dup (n.1496_1527dup)
c.2814_2845dup (p.Lys949MetfsTer8)
n.3019_3050dup
n.2636_2667dup
n.2303_2334dup
n.2705_2736dup
n.1450_1481dup
n.3335_3366dup
n.3899_3930dup
n.4161_4192dup
c.4041_4072dup (p.Lys1358MetfsTer8)
c.3651_3682dup (p.Lys1228MetfsTer8)
c.169+1346_169+1377dup (n.169+1346_169+1377dup)
c.*124+1145_*124+1176dup (n.*124+1145_*124+1176dup)
c.*3388_*3419dup (n.*3388_*3419dup)
n.3061_3092dup
c.3135_3166dup (p.Lys1056MetfsTer8)
c.942_973dup (p.Lys325MetfsTer8)
c.3858_3889dup (p.Lys1297MetfsTer8)
c.4134_4165dup (p.Lys1389MetfsTer8)
c.3951_3982dup (p.Lys1328MetfsTer8)
c.3837_3868dup (p.Lys1290MetfsTer8)
c.3228_3259dup (p.Lys1087MetfsTer8)
ClinVar
2g.47806820_47806873dupCA2697548143FBXO11,MSH6c.3746_*13dup (n.3746_*13dup)
c.3659_*13dup (n.3659_*13dup)
n.4717_4770dup
c.2477_*13dup (n.2477_*13dup)
c.4049_*13dup (n.4049_*13dup)
c.1498_1551dup (n.1498_1551dup)
c.2816_2869dup (n.2816_2869dup)
n.2638_2691dup
n.2305_2358dup
n.2707_2760dup
n.1452_1505dup
n.3337_3390dup
n.3877_3930dup
n.4139_4192dup
c.4043_*13dup (n.4043_*13dup)
c.3653_*13dup (n.3653_*13dup)
c.169+1324_169+1377dup (n.169+1324_169+1377dup)
c.*124+1123_*124+1176dup (n.*124+1123_*124+1176dup)
c.*3390_*3443dup (n.*3390_*3443dup)
n.3039_3092dup
c.3137_*13dup (n.3137_*13dup)
c.944_*13dup (n.944_*13dup)
c.3860_*13dup (n.3860_*13dup)
c.4136_*13dup (n.4136_*13dup)
c.3953_*13dup (n.3953_*13dup)
c.3839_*13dup (n.3839_*13dup)
c.3230_*13dup (n.3230_*13dup)
ClinVar
2g.47806819G>ACA346761697FBXO11,MSH6c.3745G>A (p.Glu1249Lys)
c.3658G>A (p.Glu1220Lys)
n.4716G>A
c.2476G>A (p.Glu826Lys)
c.4048G>A (p.Glu1350Lys)
c.1497G>A (n.1497G>A)
c.2815G>A (p.Glu939Lys)
n.3020G>A
n.2637G>A
n.2304G>A
n.2706G>A
n.1451G>A
n.3336G>A
n.3929C>T
n.4191C>T
c.4042G>A (p.Glu1348Lys)
c.3652G>A (p.Glu1218Lys)
c.169+1376C>T (n.169+1376C>T)
c.*124+1175C>T (n.*124+1175C>T)
c.*3389G>A (n.*3389G>A)
n.3091C>T
c.3136G>A (p.Glu1046Lys)
c.943G>A (p.Glu315Lys)
c.3859G>A (p.Glu1287Lys)
c.4135G>A (p.Glu1379Lys)
c.3952G>A (p.Glu1318Lys)
c.3838G>A (p.Glu1280Lys)
c.3229G>A (p.Glu1077Lys)
ClinVar dbSNP gnomAD v4 COSMIC
2g.47806819G>CCA346761699FBXO11,MSH6c.3745G>C (p.Glu1249Gln)
c.3658G>C (p.Glu1220Gln)
n.4716G>C
c.2476G>C (p.Glu826Gln)
c.4048G>C (p.Glu1350Gln)
c.1497G>C (n.1497G>C)
c.2815G>C (p.Glu939Gln)
n.3020G>C
n.2637G>C
n.2304G>C
n.2706G>C
n.1451G>C
n.3336G>C
n.3929C>G
n.4191C>G
c.4042G>C (p.Glu1348Gln)
c.3652G>C (p.Glu1218Gln)
c.169+1376C>G (n.169+1376C>G)
c.*124+1175C>G (n.*124+1175C>G)
c.*3389G>C (n.*3389G>C)
n.3091C>G
c.3136G>C (p.Glu1046Gln)
c.943G>C (p.Glu315Gln)
c.3859G>C (p.Glu1287Gln)
c.4135G>C (p.Glu1379Gln)
c.3952G>C (p.Glu1318Gln)
c.3838G>C (p.Glu1280Gln)
c.3229G>C (p.Glu1077Gln)
dbSNP
2g.47806819G=CA2496054572FBXO11,MSH6c.3745G= (p.Glu1249=)
c.3658G= (p.Glu1220=)
n.4716G=
c.2476G= (p.Glu826=)
c.4048G= (p.Glu1350=)
c.1497G= (n.1497G=)
c.2815G= (p.Glu939=)
n.3020G=
n.2637G=
n.2304G=
n.2706G=
n.1451G=
n.3336G=
n.3929C=
n.4191C=
c.4042G= (p.Glu1348=)
c.3652G= (p.Glu1218=)
c.169+1376C= (n.169+1376C=)
c.*124+1175C= (n.*124+1175C=)
c.*3389G= (n.*3389G=)
n.3091C=
c.3136G= (p.Glu1046=)
c.943G= (p.Glu315=)
c.3859G= (p.Glu1287=)
c.4135G= (p.Glu1379=)
c.3952G= (p.Glu1318=)
c.3838G= (p.Glu1280=)
c.3229G= (p.Glu1077=)
2g.47806819G>TCA346761698FBXO11,MSH6c.3745G>T (p.Glu1249Ter)
c.3658G>T (p.Glu1220Ter)
n.4716G>T
c.2476G>T (p.Glu826Ter)
c.4048G>T (p.Glu1350Ter)
c.1497G>T (n.1497G>T)
c.2815G>T (p.Glu939Ter)
n.3020G>T
n.2637G>T
n.2304G>T
n.2706G>T
n.1451G>T
n.3336G>T
n.3929C>A
n.4191C>A
c.4042G>T (p.Glu1348Ter)
c.3652G>T (p.Glu1218Ter)
c.169+1376C>A (n.169+1376C>A)
c.*124+1175C>A (n.*124+1175C>A)
c.*3389G>T (n.*3389G>T)
n.3091C>A
c.3136G>T (p.Glu1046Ter)
c.943G>T (p.Glu315Ter)
c.3859G>T (p.Glu1287Ter)
c.4135G>T (p.Glu1379Ter)
c.3952G>T (p.Glu1318Ter)
c.3838G>T (p.Glu1280Ter)
c.3229G>T (p.Glu1077Ter)
gnomAD v4 COSMIC
2g.47806820A=CA2496054573FBXO11,MSH6c.3746A= (p.Glu1249=)
c.3659A= (p.Glu1220=)
n.4717A=
c.2477A= (p.Glu826=)
c.4049A= (p.Glu1350=)
c.1498A= (n.1498A=)
c.2816A= (p.Glu939=)
n.3021A=
n.2638A=
n.2305A=
n.2707A=
n.1452A=
n.3337A=
n.3928T=
n.4190T=
c.4043A= (p.Glu1348=)
c.3653A= (p.Glu1218=)
c.169+1375T= (n.169+1375T=)
c.*124+1174T= (n.*124+1174T=)
c.*3390A= (n.*3390A=)
n.3090T=
c.3137A= (p.Glu1046=)
c.944A= (p.Glu315=)
c.3860A= (p.Glu1287=)
c.4136A= (p.Glu1379=)
c.3953A= (p.Glu1318=)
c.3839A= (p.Glu1280=)
c.3230A= (p.Glu1077=)
2g.47806820A>CCA346761700FBXO11,MSH6c.3746A>C (p.Glu1249Ala)
c.3659A>C (p.Glu1220Ala)
n.4717A>C
c.2477A>C (p.Glu826Ala)
c.4049A>C (p.Glu1350Ala)
c.1498A>C (n.1498A>C)
c.2816A>C (p.Glu939Ala)
n.3021A>C
n.2638A>C
n.2305A>C
n.2707A>C
n.1452A>C
n.3337A>C
n.3928T>G
n.4190T>G
c.4043A>C (p.Glu1348Ala)
c.3653A>C (p.Glu1218Ala)
c.169+1375T>G (n.169+1375T>G)
c.*124+1174T>G (n.*124+1174T>G)
c.*3390A>C (n.*3390A>C)
n.3090T>G
c.3137A>C (p.Glu1046Ala)
c.944A>C (p.Glu315Ala)
c.3860A>C (p.Glu1287Ala)
c.4136A>C (p.Glu1379Ala)
c.3953A>C (p.Glu1318Ala)
c.3839A>C (p.Glu1280Ala)
c.3230A>C (p.Glu1077Ala)
ClinVar dbSNP gnomAD v3 gnomAD v4
2g.47806820A>GCA346761702FBXO11,MSH6c.3746A>G (p.Glu1249Gly)
c.3659A>G (p.Glu1220Gly)
n.4717A>G
c.2477A>G (p.Glu826Gly)
c.4049A>G (p.Glu1350Gly)
c.1498A>G (n.1498A>G)
c.2816A>G (p.Glu939Gly)
n.3021A>G
n.2638A>G
n.2305A>G
n.2707A>G
n.1452A>G
n.3337A>G
n.3928T>C
n.4190T>C
c.4043A>G (p.Glu1348Gly)
c.3653A>G (p.Glu1218Gly)
c.169+1375T>C (n.169+1375T>C)
c.*124+1174T>C (n.*124+1174T>C)
c.*3390A>G (n.*3390A>G)
n.3090T>C
c.3137A>G (p.Glu1046Gly)
c.944A>G (p.Glu315Gly)
c.3860A>G (p.Glu1287Gly)
c.4136A>G (p.Glu1379Gly)
c.3953A>G (p.Glu1318Gly)
c.3839A>G (p.Glu1280Gly)
c.3230A>G (p.Glu1077Gly)
2g.47806820A>TCA346761701FBXO11,MSH6c.3746A>T (p.Glu1249Val)
c.3659A>T (p.Glu1220Val)
n.4717A>T
c.2477A>T (p.Glu826Val)
c.4049A>T (p.Glu1350Val)
c.1498A>T (n.1498A>T)
c.2816A>T (p.Glu939Val)
n.3021A>T
n.2638A>T
n.2305A>T
n.2707A>T
n.1452A>T
n.3337A>T
n.3928T>A
n.4190T>A
c.4043A>T (p.Glu1348Val)
c.3653A>T (p.Glu1218Val)
c.169+1375T>A (n.169+1375T>A)
c.*124+1174T>A (n.*124+1174T>A)
c.*3390A>T (n.*3390A>T)
n.3090T>A
c.3137A>T (p.Glu1046Val)
c.944A>T (p.Glu315Val)
c.3860A>T (p.Glu1287Val)
c.4136A>T (p.Glu1379Val)
c.3953A>T (p.Glu1318Val)
c.3839A>T (p.Glu1280Val)
c.3230A>T (p.Glu1077Val)
ClinVar dbSNP
2g.47806821dupCA1030298037FBXO11,MSH6c.3747dup (p.Ala1250SerfsTer4)
c.3660dup (p.Ala1221SerfsTer4)
n.4718dup
c.2478dup (p.Ala827SerfsTer4)
c.4050dup (p.Ala1351SerfsTer4)
c.1499dup (n.1499dup)
c.2817dup (p.Ala940SerfsTer4)
n.3022dup
n.2639dup
n.2306dup
n.2708dup
n.1453dup
n.3338dup
n.3928dup
n.4190dup
c.4044dup (p.Ala1349SerfsTer4)
c.3654dup (p.Ala1219SerfsTer4)
c.169+1375dup (n.169+1375dup)
c.*124+1174dup (n.*124+1174dup)
c.*3391dup (n.*3391dup)
n.3090dup
c.3138dup (p.Ala1047SerfsTer4)
c.945dup (p.Ala316SerfsTer4)
c.3861dup (p.Ala1288SerfsTer4)
c.4137dup (p.Ala1380SerfsTer4)
c.3954dup (p.Ala1319SerfsTer4)
c.3840dup (p.Ala1281SerfsTer4)
c.3231dup (p.Ala1078SerfsTer4)
dbSNP gnomAD v3 gnomAD v4
2g.47806821A=CA2496054574FBXO11,MSH6c.3747A= (p.Glu1249=)
c.3660A= (p.Glu1220=)
n.4718A=
c.2478A= (p.Glu826=)
c.4050A= (p.Glu1350=)
c.1499A= (n.1499A=)
c.2817A= (p.Glu939=)
n.3022A=
n.2639A=
n.2306A=
n.2708A=
n.1453A=
n.3338A=
n.3927T=
n.4189T=
c.4044A= (p.Glu1348=)
c.3654A= (p.Glu1218=)
c.169+1374T= (n.169+1374T=)
c.*124+1173T= (n.*124+1173T=)
c.*3391A= (n.*3391A=)
n.3089T=
c.3138A= (p.Glu1046=)
c.945A= (p.Glu315=)
c.3861A= (p.Glu1287=)
c.4137A= (p.Glu1379=)
c.3954A= (p.Glu1318=)
c.3840A= (p.Glu1280=)
c.3231A= (p.Glu1077=)
2g.47806821A>CCA015340FBXO11,MSH6c.3747A>C (p.Glu1249Asp)
c.3660A>C (p.Glu1220Asp)
n.4718A>C
c.2478A>C (p.Glu826Asp)
c.4050A>C (p.Glu1350Asp)
c.1499A>C (n.1499A>C)
c.2817A>C (p.Glu939Asp)
n.3022A>C
n.2639A>C
n.2306A>C
n.2708A>C
n.1453A>C
n.3338A>C
n.3927T>G
n.4189T>G
c.4044A>C (p.Glu1348Asp)
c.3654A>C (p.Glu1218Asp)
c.169+1374T>G (n.169+1374T>G)
c.*124+1173T>G (n.*124+1173T>G)
c.*3391A>C (n.*3391A>C)
n.3089T>G
c.3138A>C (p.Glu1046Asp)
c.945A>C (p.Glu315Asp)
c.3861A>C (p.Glu1287Asp)
c.4137A>C (p.Glu1379Asp)
c.3954A>C (p.Glu1318Asp)
c.3840A>C (p.Glu1280Asp)
c.3231A>C (p.Glu1077Asp)
ClinVar dbSNP
2g.47806821A>GCA426122278FBXO11,MSH6c.3747A>G (p.Glu1249=)
c.3660A>G (p.Glu1220=)
n.4718A>G
c.2478A>G (p.Glu826=)
c.4050A>G (p.Glu1350=)
c.1499A>G (n.1499A>G)
c.2817A>G (p.Glu939=)
n.3022A>G
n.2639A>G
n.2306A>G
n.2708A>G
n.1453A>G
n.3338A>G
n.3927T>C
n.4189T>C
c.4044A>G (p.Glu1348=)
c.3654A>G (p.Glu1218=)
c.169+1374T>C (n.169+1374T>C)
c.*124+1173T>C (n.*124+1173T>C)
c.*3391A>G (n.*3391A>G)
n.3089T>C
c.3138A>G (p.Glu1046=)
c.945A>G (p.Glu315=)
c.3861A>G (p.Glu1287=)
c.4137A>G (p.Glu1379=)
c.3954A>G (p.Glu1318=)
c.3840A>G (p.Glu1280=)
c.3231A>G (p.Glu1077=)
ClinVar dbSNP
2g.47806821A>TCA346761703FBXO11,MSH6c.3747A>T (p.Glu1249Asp)
c.3660A>T (p.Glu1220Asp)
n.4718A>T
c.2478A>T (p.Glu826Asp)
c.4050A>T (p.Glu1350Asp)
c.1499A>T (n.1499A>T)
c.2817A>T (p.Glu939Asp)
n.3022A>T
n.2639A>T
n.2306A>T
n.2708A>T
n.1453A>T
n.3338A>T
n.3927T>A
n.4189T>A
c.4044A>T (p.Glu1348Asp)
c.3654A>T (p.Glu1218Asp)
c.169+1374T>A (n.169+1374T>A)
c.*124+1173T>A (n.*124+1173T>A)
c.*3391A>T (n.*3391A>T)
n.3089T>A
c.3138A>T (p.Glu1046Asp)
c.945A>T (p.Glu315Asp)
c.3861A>T (p.Glu1287Asp)
c.4137A>T (p.Glu1379Asp)
c.3954A>T (p.Glu1318Asp)
c.3840A>T (p.Glu1280Asp)
c.3231A>T (p.Glu1077Asp)
dbSNP gnomAD v4
2g.47806822G>ACA346761704FBXO11,MSH6c.3748G>A (p.Ala1250Thr)
c.3661G>A (p.Ala1221Thr)
n.4719G>A
c.2479G>A (p.Ala827Thr)
c.4051G>A (p.Ala1351Thr)
c.1500G>A (n.1500G>A)
c.2818G>A (p.Ala940Thr)
n.3023G>A
n.2640G>A
n.2307G>A
n.2709G>A
n.1454G>A
n.3339G>A
n.3926C>T
n.4188C>T
c.4045G>A (p.Ala1349Thr)
c.3655G>A (p.Ala1219Thr)
c.169+1373C>T (n.169+1373C>T)
c.*124+1172C>T (n.*124+1172C>T)
c.*3392G>A (n.*3392G>A)
n.3088C>T
c.3139G>A (p.Ala1047Thr)
c.946G>A (p.Ala316Thr)
c.3862G>A (p.Ala1288Thr)
c.4138G>A (p.Ala1380Thr)
c.3955G>A (p.Ala1319Thr)
c.3841G>A (p.Ala1281Thr)
c.3232G>A (p.Ala1078Thr)
dbSNP
2g.47806822G>CCA346761706FBXO11,MSH6c.3748G>C (p.Ala1250Pro)
c.3661G>C (p.Ala1221Pro)
n.4719G>C
c.2479G>C (p.Ala827Pro)
c.4051G>C (p.Ala1351Pro)
c.1500G>C (n.1500G>C)
c.2818G>C (p.Ala940Pro)
n.3023G>C
n.2640G>C
n.2307G>C
n.2709G>C
n.1454G>C
n.3339G>C
n.3926C>G
n.4188C>G
c.4045G>C (p.Ala1349Pro)
c.3655G>C (p.Ala1219Pro)
c.169+1373C>G (n.169+1373C>G)
c.*124+1172C>G (n.*124+1172C>G)
c.*3392G>C (n.*3392G>C)
n.3088C>G
c.3139G>C (p.Ala1047Pro)
c.946G>C (p.Ala316Pro)
c.3862G>C (p.Ala1288Pro)
c.4138G>C (p.Ala1380Pro)
c.3955G>C (p.Ala1319Pro)
c.3841G>C (p.Ala1281Pro)
c.3232G>C (p.Ala1078Pro)
dbSNP
2g.47806822G=CA2496054575FBXO11,MSH6c.3748G= (p.Ala1250=)
c.3661G= (p.Ala1221=)
n.4719G=
c.2479G= (p.Ala827=)
c.4051G= (p.Ala1351=)
c.1500G= (n.1500G=)
c.2818G= (p.Ala940=)
n.3023G=
n.2640G=
n.2307G=
n.2709G=
n.1454G=
n.3339G=
n.3926C=
n.4188C=
c.4045G= (p.Ala1349=)
c.3655G= (p.Ala1219=)
c.169+1373C= (n.169+1373C=)
c.*124+1172C= (n.*124+1172C=)
c.*3392G= (n.*3392G=)
n.3088C=
c.3139G= (p.Ala1047=)
c.946G= (p.Ala316=)
c.3862G= (p.Ala1288=)
c.4138G= (p.Ala1380=)
c.3955G= (p.Ala1319=)
c.3841G= (p.Ala1281=)
c.3232G= (p.Ala1078=)
2g.47806822G>TCA346761705FBXO11,MSH6c.3748G>T (p.Ala1250Ser)
c.3661G>T (p.Ala1221Ser)
n.4719G>T
c.2479G>T (p.Ala827Ser)
c.4051G>T (p.Ala1351Ser)
c.1500G>T (n.1500G>T)
c.2818G>T (p.Ala940Ser)
n.3023G>T
n.2640G>T
n.2307G>T
n.2709G>T
n.1454G>T
n.3339G>T
n.3926C>A
n.4188C>A
c.4045G>T (p.Ala1349Ser)
c.3655G>T (p.Ala1219Ser)
c.169+1373C>A (n.169+1373C>A)
c.*124+1172C>A (n.*124+1172C>A)
c.*3392G>T (n.*3392G>T)
n.3088C>A
c.3139G>T (p.Ala1047Ser)
c.946G>T (p.Ala316Ser)
c.3862G>T (p.Ala1288Ser)
c.4138G>T (p.Ala1380Ser)
c.3955G>T (p.Ala1319Ser)
c.3841G>T (p.Ala1281Ser)
c.3232G>T (p.Ala1078Ser)
ClinVar dbSNP
2g.47806823C>ACA346761707FBXO11,MSH6c.3749C>A (p.Ala1250Asp)
c.3662C>A (p.Ala1221Asp)
n.4720C>A
c.2480C>A (p.Ala827Asp)
c.4052C>A (p.Ala1351Asp)
c.1501C>A (n.1501C>A)
c.2819C>A (p.Ala940Asp)
n.3024C>A
n.2641C>A
n.2308C>A
n.2710C>A
n.1455C>A
n.3340C>A
n.3925G>T
n.4187G>T
c.4046C>A (p.Ala1349Asp)
c.3656C>A (p.Ala1219Asp)
c.169+1372G>T (n.169+1372G>T)
c.*124+1171G>T (n.*124+1171G>T)
c.*3393C>A (n.*3393C>A)
n.3087G>T
c.3140C>A (p.Ala1047Asp)
c.947C>A (p.Ala316Asp)
c.3863C>A (p.Ala1288Asp)
c.4139C>A (p.Ala1380Asp)
c.3956C>A (p.Ala1319Asp)
c.3842C>A (p.Ala1281Asp)
c.3233C>A (p.Ala1078Asp)
dbSNP
2g.47806823C>GCA346761708FBXO11,MSH6c.3749C>G (p.Ala1250Gly)
c.3662C>G (p.Ala1221Gly)
n.4720C>G
c.2480C>G (p.Ala827Gly)
c.4052C>G (p.Ala1351Gly)
c.1501C>G (n.1501C>G)
c.2819C>G (p.Ala940Gly)
n.3024C>G
n.2641C>G
n.2308C>G
n.2710C>G
n.1455C>G
n.3340C>G
n.3925G>C
n.4187G>C
c.4046C>G (p.Ala1349Gly)
c.3656C>G (p.Ala1219Gly)
c.169+1372G>C (n.169+1372G>C)
c.*124+1171G>C (n.*124+1171G>C)
c.*3393C>G (n.*3393C>G)
n.3087G>C
c.3140C>G (p.Ala1047Gly)
c.947C>G (p.Ala316Gly)
c.3863C>G (p.Ala1288Gly)
c.4139C>G (p.Ala1380Gly)
c.3956C>G (p.Ala1319Gly)
c.3842C>G (p.Ala1281Gly)
c.3233C>G (p.Ala1078Gly)
ClinVar dbSNP
2g.47806823C>TCA346761709FBXO11,MSH6c.3749C>T (p.Ala1250Val)
c.3662C>T (p.Ala1221Val)
n.4720C>T
c.2480C>T (p.Ala827Val)
c.4052C>T (p.Ala1351Val)
c.1501C>T (n.1501C>T)
c.2819C>T (p.Ala940Val)
n.3024C>T
n.2641C>T
n.2308C>T
n.2710C>T
n.1455C>T
n.3340C>T
n.3925G>A
n.4187G>A
c.4046C>T (p.Ala1349Val)
c.3656C>T (p.Ala1219Val)
c.169+1372G>A (n.169+1372G>A)
c.*124+1171G>A (n.*124+1171G>A)
c.*3393C>T (n.*3393C>T)
n.3087G>A
c.3140C>T (p.Ala1047Val)
c.947C>T (p.Ala316Val)
c.3863C>T (p.Ala1288Val)
c.4139C>T (p.Ala1380Val)
c.3956C>T (p.Ala1319Val)
c.3842C>T (p.Ala1281Val)
c.3233C>T (p.Ala1078Val)
dbSNP
2g.47806824T>ACA426122279FBXO11,MSH6c.3750T>A (p.Ala1250=)
c.3663T>A (p.Ala1221=)
n.4721T>A
c.2481T>A (p.Ala827=)
c.4053T>A (p.Ala1351=)
c.1502T>A (n.1502T>A)
c.2820T>A (p.Ala940=)
n.3025T>A
n.2642T>A
n.2309T>A
n.2711T>A
n.1456T>A
n.3341T>A
n.3924A>T
n.4186A>T
c.4047T>A (p.Ala1349=)
c.3657T>A (p.Ala1219=)
c.169+1371A>T (n.169+1371A>T)
c.*124+1170A>T (n.*124+1170A>T)
c.*3394T>A (n.*3394T>A)
n.3086A>T
c.3141T>A (p.Ala1047=)
c.948T>A (p.Ala316=)
c.3864T>A (p.Ala1288=)
c.4140T>A (p.Ala1380=)
c.3957T>A (p.Ala1319=)
c.3843T>A (p.Ala1281=)
c.3234T>A (p.Ala1078=)
dbSNP
2g.47806824T>CCA426122280FBXO11,MSH6c.3750T>C (p.Ala1250=)
c.3663T>C (p.Ala1221=)
n.4721T>C
c.2481T>C (p.Ala827=)
c.4053T>C (p.Ala1351=)
c.1502T>C (n.1502T>C)
c.2820T>C (p.Ala940=)
n.3025T>C
n.2642T>C
n.2309T>C
n.2711T>C
n.1456T>C
n.3341T>C
n.3924A>G
n.4186A>G
c.4047T>C (p.Ala1349=)
c.3657T>C (p.Ala1219=)
c.169+1371A>G (n.169+1371A>G)
c.*124+1170A>G (n.*124+1170A>G)
c.*3394T>C (n.*3394T>C)
n.3086A>G
c.3141T>C (p.Ala1047=)
c.948T>C (p.Ala316=)
c.3864T>C (p.Ala1288=)
c.4140T>C (p.Ala1380=)
c.3957T>C (p.Ala1319=)
c.3843T>C (p.Ala1281=)
c.3234T>C (p.Ala1078=)
2g.47806824T>GCA426122281FBXO11,MSH6c.3750T>G (p.Ala1250=)
c.3663T>G (p.Ala1221=)
n.4721T>G
c.2481T>G (p.Ala827=)
c.4053T>G (p.Ala1351=)
c.1502T>G (n.1502T>G)
c.2820T>G (p.Ala940=)
n.3025T>G
n.2642T>G
n.2309T>G
n.2711T>G
n.1456T>G
n.3341T>G
n.3924A>C
n.4186A>C
c.4047T>G (p.Ala1349=)
c.3657T>G (p.Ala1219=)
c.169+1371A>C (n.169+1371A>C)
c.*124+1170A>C (n.*124+1170A>C)
c.*3394T>G (n.*3394T>G)
n.3086A>C
c.3141T>G (p.Ala1047=)
c.948T>G (p.Ala316=)
c.3864T>G (p.Ala1288=)
c.4140T>G (p.Ala1380=)
c.3957T>G (p.Ala1319=)
c.3843T>G (p.Ala1281=)
c.3234T>G (p.Ala1078=)
2g.47806825delCA2580067596FBXO11,MSH6c.3751del (p.Val1251SerfsTer5)
c.3664del (p.Val1222SerfsTer5)
n.4722del
c.2482del (p.Val828SerfsTer5)
c.4054del (p.Val1352SerfsTer5)
c.1503del (n.1503del)
c.2821del (p.Val941SerfsTer5)
n.3026del
n.2643del
n.2310del
n.2712del
n.1457del
n.3342del
n.3923del
n.4185del
c.4048del (p.Val1350SerfsTer5)
c.3658del (p.Val1220SerfsTer5)
c.169+1370del (n.169+1370del)
c.*124+1169del (n.*124+1169del)
c.*3395del (n.*3395del)
n.3085del
c.3142del (p.Val1048SerfsTer5)
c.949del (p.Val317SerfsTer5)
c.3865del (p.Val1289SerfsTer5)
c.4141del (p.Val1381SerfsTer5)
c.3958del (p.Val1320SerfsTer5)
c.3844del (p.Val1282SerfsTer5)
c.3235del (p.Val1079SerfsTer5)
ClinVar
2g.47806825G>ACA346761710FBXO11,MSH6c.3751G>A (p.Val1251Ile)
c.3664G>A (p.Val1222Ile)
n.4722G>A
c.2482G>A (p.Val828Ile)
c.4054G>A (p.Val1352Ile)
c.1503G>A (n.1503G>A)
c.2821G>A (p.Val941Ile)
n.3026G>A
n.2643G>A
n.2310G>A
n.2712G>A
n.1457G>A
n.3342G>A
n.3923C>T
n.4185C>T
c.4048G>A (p.Val1350Ile)
c.3658G>A (p.Val1220Ile)
c.169+1370C>T (n.169+1370C>T)
c.*124+1169C>T (n.*124+1169C>T)
c.*3395G>A (n.*3395G>A)
n.3085C>T
c.3142G>A (p.Val1048Ile)
c.949G>A (p.Val317Ile)
c.3865G>A (p.Val1289Ile)
c.4141G>A (p.Val1381Ile)
c.3958G>A (p.Val1320Ile)
c.3844G>A (p.Val1282Ile)
c.3235G>A (p.Val1079Ile)
ClinVar dbSNP gnomAD v4
2g.47806825G>CCA072830FBXO11,MSH6c.3751G>C (p.Val1251Leu)
c.3664G>C (p.Val1222Leu)
n.4722G>C
c.2482G>C (p.Val828Leu)
c.4054G>C (p.Val1352Leu)
c.1503G>C (n.1503G>C)
c.2821G>C (p.Val941Leu)
n.3026G>C
n.2643G>C
n.2310G>C
n.2712G>C
n.1457G>C
n.3342G>C
n.3923C>G
n.4185C>G
c.4048G>C (p.Val1350Leu)
c.3658G>C (p.Val1220Leu)
c.169+1370C>G (n.169+1370C>G)
c.*124+1169C>G (n.*124+1169C>G)
c.*3395G>C (n.*3395G>C)
n.3085C>G
c.3142G>C (p.Val1048Leu)
c.949G>C (p.Val317Leu)
c.3865G>C (p.Val1289Leu)
c.4141G>C (p.Val1381Leu)
c.3958G>C (p.Val1320Leu)
c.3844G>C (p.Val1282Leu)
c.3235G>C (p.Val1079Leu)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.47806825G=CA2496054576FBXO11,MSH6c.3751G= (p.Val1251=)
c.3664G= (p.Val1222=)
n.4722G=
c.2482G= (p.Val828=)
c.4054G= (p.Val1352=)
c.1503G= (n.1503G=)
c.2821G= (p.Val941=)
n.3026G=
n.2643G=
n.2310G=
n.2712G=
n.1457G=
n.3342G=
n.3923C=
n.4185C=
c.4048G= (p.Val1350=)
c.3658G= (p.Val1220=)
c.169+1370C= (n.169+1370C=)
c.*124+1169C= (n.*124+1169C=)
c.*3395G= (n.*3395G=)
n.3085C=
c.3142G= (p.Val1048=)
c.949G= (p.Val317=)
c.3865G= (p.Val1289=)
c.4141G= (p.Val1381=)
c.3958G= (p.Val1320=)
c.3844G= (p.Val1282=)
c.3235G= (p.Val1079=)
2g.47806825G>TCA346761711FBXO11,MSH6c.3751G>T (p.Val1251Phe)
c.3664G>T (p.Val1222Phe)
n.4722G>T
c.2482G>T (p.Val828Phe)
c.4054G>T (p.Val1352Phe)
c.1503G>T (n.1503G>T)
c.2821G>T (p.Val941Phe)
n.3026G>T
n.2643G>T
n.2310G>T
n.2712G>T
n.1457G>T
n.3342G>T
n.3923C>A
n.4185C>A
c.4048G>T (p.Val1350Phe)
c.3658G>T (p.Val1220Phe)
c.169+1370C>A (n.169+1370C>A)
c.*124+1169C>A (n.*124+1169C>A)
c.*3395G>T (n.*3395G>T)
n.3085C>A
c.3142G>T (p.Val1048Phe)
c.949G>T (p.Val317Phe)
c.3865G>T (p.Val1289Phe)
c.4141G>T (p.Val1381Phe)
c.3958G>T (p.Val1320Phe)
c.3844G>T (p.Val1282Phe)
c.3235G>T (p.Val1079Phe)
2g.47806826T>ACA346761712FBXO11,MSH6c.3752T>A (p.Val1251Asp)
c.3665T>A (p.Val1222Asp)
n.4723T>A
c.2483T>A (p.Val828Asp)
c.4055T>A (p.Val1352Asp)
c.1504T>A (n.1504T>A)
c.2822T>A (p.Val941Asp)
n.3027T>A
n.2644T>A
n.2311T>A
n.2713T>A
n.1458T>A
n.3343T>A
n.3922A>T
n.4184A>T
c.4049T>A (p.Val1350Asp)
c.3659T>A (p.Val1220Asp)
c.169+1369A>T (n.169+1369A>T)
c.*124+1168A>T (n.*124+1168A>T)
c.*3396T>A (n.*3396T>A)
n.3084A>T
c.3143T>A (p.Val1048Asp)
c.950T>A (p.Val317Asp)
c.3866T>A (p.Val1289Asp)
c.4142T>A (p.Val1381Asp)
c.3959T>A (p.Val1320Asp)
c.3845T>A (p.Val1282Asp)
c.3236T>A (p.Val1079Asp)
ClinVar dbSNP
2g.47806826T>CCA346761713FBXO11,MSH6c.3752T>C (p.Val1251Ala)
c.3665T>C (p.Val1222Ala)
n.4723T>C
c.2483T>C (p.Val828Ala)
c.4055T>C (p.Val1352Ala)
c.1504T>C (n.1504T>C)
c.2822T>C (p.Val941Ala)
n.3027T>C
n.2644T>C
n.2311T>C
n.2713T>C
n.1458T>C
n.3343T>C
n.3922A>G
n.4184A>G
c.4049T>C (p.Val1350Ala)
c.3659T>C (p.Val1220Ala)
c.169+1369A>G (n.169+1369A>G)
c.*124+1168A>G (n.*124+1168A>G)
c.*3396T>C (n.*3396T>C)
n.3084A>G
c.3143T>C (p.Val1048Ala)
c.950T>C (p.Val317Ala)
c.3866T>C (p.Val1289Ala)
c.4142T>C (p.Val1381Ala)
c.3959T>C (p.Val1320Ala)
c.3845T>C (p.Val1282Ala)
c.3236T>C (p.Val1079Ala)
2g.47806826T>GCA346761714FBXO11,MSH6c.3752T>G (p.Val1251Gly)
c.3665T>G (p.Val1222Gly)
n.4723T>G
c.2483T>G (p.Val828Gly)
c.4055T>G (p.Val1352Gly)
c.1504T>G (n.1504T>G)
c.2822T>G (p.Val941Gly)
n.3027T>G
n.2644T>G
n.2311T>G
n.2713T>G
n.1458T>G
n.3343T>G
n.3922A>C
n.4184A>C
c.4049T>G (p.Val1350Gly)
c.3659T>G (p.Val1220Gly)
c.169+1369A>C (n.169+1369A>C)
c.*124+1168A>C (n.*124+1168A>C)
c.*3396T>G (n.*3396T>G)
n.3084A>C
c.3143T>G (p.Val1048Gly)
c.950T>G (p.Val317Gly)
c.3866T>G (p.Val1289Gly)
c.4142T>G (p.Val1381Gly)
c.3959T>G (p.Val1320Gly)
c.3845T>G (p.Val1282Gly)
c.3236T>G (p.Val1079Gly)
2g.47806826T=CA2496054577FBXO11,MSH6c.3752T= (p.Val1251=)
c.3665T= (p.Val1222=)
n.4723T=
c.2483T= (p.Val828=)
c.4055T= (p.Val1352=)
c.1504T= (n.1504T=)
c.2822T= (p.Val941=)
n.3027T=
n.2644T=
n.2311T=
n.2713T=
n.1458T=
n.3343T=
n.3922A=
n.4184A=
c.4049T= (p.Val1350=)
c.3659T= (p.Val1220=)
c.169+1369A= (n.169+1369A=)
c.*124+1168A= (n.*124+1168A=)
c.*3396T= (n.*3396T=)
n.3084A=
c.3143T= (p.Val1048=)
c.950T= (p.Val317=)
c.3866T= (p.Val1289=)
c.4142T= (p.Val1381=)
c.3959T= (p.Val1320=)
c.3845T= (p.Val1282=)
c.3236T= (p.Val1079=)
2g.47806826_47806827delCA2580067598FBXO11,MSH6c.3752_3753del (p.Val1251AlafsTer2)
c.3665_3666del (p.Val1222AlafsTer2)
n.4723_4724del
c.2483_2484del (p.Val828AlafsTer2)
c.4055_4056del (p.Val1352AlafsTer2)
c.1504_1505del (n.1504_1505del)
c.2822_2823del (p.Val941AlafsTer2)
n.3027_3028del
n.2644_2645del
n.2311_2312del
n.2713_2714del
n.1458_1459del
n.3343_3344del
n.3921_3922del
n.4183_4184del
c.4049_4050del (p.Val1350AlafsTer2)
c.3659_3660del (p.Val1220AlafsTer2)
c.169+1368_169+1369del (n.169+1368_169+1369del)
c.*124+1167_*124+1168del (n.*124+1167_*124+1168del)
c.*3396_*3397del (n.*3396_*3397del)
n.3083_3084del
c.3143_3144del (p.Val1048AlafsTer2)
c.950_951del (p.Val317AlafsTer2)
c.3866_3867del (p.Val1289AlafsTer2)
c.4142_4143del (p.Val1381AlafsTer2)
c.3959_3960del (p.Val1320AlafsTer2)
c.3845_3846del (p.Val1282AlafsTer2)
c.3236_3237del (p.Val1079AlafsTer2)
ClinVar
2g.47806827C>ACA426122282FBXO11,MSH6c.3753C>A (p.Val1251=)
c.3666C>A (p.Val1222=)
n.4724C>A
c.2484C>A (p.Val828=)
c.4056C>A (p.Val1352=)
c.1505C>A (n.1505C>A)
c.2823C>A (p.Val941=)
n.3028C>A
n.2645C>A
n.2312C>A
n.2714C>A
n.1459C>A
n.3344C>A
n.3921G>T
n.4183G>T
c.4050C>A (p.Val1350=)
c.3660C>A (p.Val1220=)
c.169+1368G>T (n.169+1368G>T)
c.*124+1167G>T (n.*124+1167G>T)
c.*3397C>A (n.*3397C>A)
n.3083G>T
c.3144C>A (p.Val1048=)
c.951C>A (p.Val317=)
c.3867C>A (p.Val1289=)
c.4143C>A (p.Val1381=)
c.3960C>A (p.Val1320=)
c.3846C>A (p.Val1282=)
c.3237C>A (p.Val1079=)
ClinVar dbSNP gnomAD v4
2g.47806827C=CA2496054578FBXO11,MSH6c.3753C= (p.Val1251=)
c.3666C= (p.Val1222=)
n.4724C=
c.2484C= (p.Val828=)
c.4056C= (p.Val1352=)
c.1505C= (n.1505C=)
c.2823C= (p.Val941=)
n.3028C=
n.2645C=
n.2312C=
n.2714C=
n.1459C=
n.3344C=
n.3921G=
n.4183G=
c.4050C= (p.Val1350=)
c.3660C= (p.Val1220=)
c.169+1368G= (n.169+1368G=)
c.*124+1167G= (n.*124+1167G=)
c.*3397C= (n.*3397C=)
n.3083G=
c.3144C= (p.Val1048=)
c.951C= (p.Val317=)
c.3867C= (p.Val1289=)
c.4143C= (p.Val1381=)
c.3960C= (p.Val1320=)
c.3846C= (p.Val1282=)
c.3237C= (p.Val1079=)
2g.47806827C>GCA426122283FBXO11,MSH6c.3753C>G (p.Val1251=)
c.3666C>G (p.Val1222=)
n.4724C>G
c.2484C>G (p.Val828=)
c.4056C>G (p.Val1352=)
c.1505C>G (n.1505C>G)
c.2823C>G (p.Val941=)
n.3028C>G
n.2645C>G
n.2312C>G
n.2714C>G
n.1459C>G
n.3344C>G
n.3921G>C
n.4183G>C
c.4050C>G (p.Val1350=)
c.3660C>G (p.Val1220=)
c.169+1368G>C (n.169+1368G>C)
c.*124+1167G>C (n.*124+1167G>C)
c.*3397C>G (n.*3397C>G)
n.3083G>C
c.3144C>G (p.Val1048=)
c.951C>G (p.Val317=)
c.3867C>G (p.Val1289=)
c.4143C>G (p.Val1381=)
c.3960C>G (p.Val1320=)
c.3846C>G (p.Val1282=)
c.3237C>G (p.Val1079=)
dbSNP
2g.47806827C>TCA16604209FBXO11,MSH6c.3753C>T (p.Val1251=)
c.3666C>T (p.Val1222=)
n.4724C>T
c.2484C>T (p.Val828=)
c.4056C>T (p.Val1352=)
c.1505C>T (n.1505C>T)
c.2823C>T (p.Val941=)
n.3028C>T
n.2645C>T
n.2312C>T
n.2714C>T
n.1459C>T
n.3344C>T
n.3921G>A
n.4183G>A
c.4050C>T (p.Val1350=)
c.3660C>T (p.Val1220=)
c.169+1368G>A (n.169+1368G>A)
c.*124+1167G>A (n.*124+1167G>A)
c.*3397C>T (n.*3397C>T)
n.3083G>A
c.3144C>T (p.Val1048=)
c.951C>T (p.Val317=)
c.3867C>T (p.Val1289=)
c.4143C>T (p.Val1381=)
c.3960C>T (p.Val1320=)
c.3846C>T (p.Val1282=)
c.3237C>T (p.Val1079=)
ClinVar dbSNP
2g.47806828_47806878dupCA913188079FBXO11,MSH6c.3754_*18dup (n.3754_*18dup)
c.3667_*18dup (n.3667_*18dup)
n.4725_4775dup
c.2485_*18dup (n.2485_*18dup)
c.4057_*18dup (n.4057_*18dup)
c.1506_1556dup (n.1506_1556dup)
c.2824_2874dup (n.2824_2874dup)
n.2646_2696dup
n.2313_2363dup
n.2715_2765dup
n.1460_1510dup
n.3345_3395dup
n.3871_3921dup
n.4133_4183dup
c.4051_*18dup (n.4051_*18dup)
c.3661_*18dup (n.3661_*18dup)
c.169+1318_169+1368dup (n.169+1318_169+1368dup)
c.*124+1117_*124+1167dup (n.*124+1117_*124+1167dup)
c.*3398_*3448dup (n.*3398_*3448dup)
n.3033_3083dup
c.3145_*18dup (n.3145_*18dup)
c.952_*18dup (n.952_*18dup)
c.3868_*18dup (n.3868_*18dup)
c.4144_*18dup (n.4144_*18dup)
c.3961_*18dup (n.3961_*18dup)
c.3847_*18dup (n.3847_*18dup)
c.3238_*18dup (n.3238_*18dup)
ClinVar gnomAD v4
2g.47806828C>ACA346761715FBXO11,MSH6c.3754C>A (p.His1252Asn)
c.3667C>A (p.His1223Asn)
n.4725C>A
c.2485C>A (p.His829Asn)
c.4057C>A (p.His1353Asn)
c.1506C>A (n.1506C>A)
c.2824C>A (p.His942Asn)
n.3029C>A
n.2646C>A
n.2313C>A
n.2715C>A
n.1460C>A
n.3345C>A
n.3920G>T
n.4182G>T
c.4051C>A (p.His1351Asn)
c.3661C>A (p.His1221Asn)
c.169+1367G>T (n.169+1367G>T)
c.*124+1166G>T (n.*124+1166G>T)
c.*3398C>A (n.*3398C>A)
n.3082G>T
c.3145C>A (p.His1049Asn)
c.952C>A (p.His318Asn)
c.3868C>A (p.His1290Asn)
c.4144C>A (p.His1382Asn)
c.3961C>A (p.His1321Asn)
c.3847C>A (p.His1283Asn)
c.3238C>A (p.His1080Asn)
ClinVar dbSNP COSMIC
2g.47806828C=CA2496054579FBXO11,MSH6c.3754C= (p.His1252=)
c.3667C= (p.His1223=)
n.4725C=
c.2485C= (p.His829=)
c.4057C= (p.His1353=)
c.1506C= (n.1506C=)
c.2824C= (p.His942=)
n.3029C=
n.2646C=
n.2313C=
n.2715C=
n.1460C=
n.3345C=
n.3920G=
n.4182G=
c.4051C= (p.His1351=)
c.3661C= (p.His1221=)
c.169+1367G= (n.169+1367G=)
c.*124+1166G= (n.*124+1166G=)
c.*3398C= (n.*3398C=)
n.3082G=
c.3145C= (p.His1049=)
c.952C= (p.His318=)
c.3868C= (p.His1290=)
c.4144C= (p.His1382=)
c.3961C= (p.His1321=)
c.3847C= (p.His1283=)
c.3238C= (p.His1080=)
2g.47806828C>GCA346761716FBXO11,MSH6c.3754C>G (p.His1252Asp)
c.3667C>G (p.His1223Asp)
n.4725C>G
c.2485C>G (p.His829Asp)
c.4057C>G (p.His1353Asp)
c.1506C>G (n.1506C>G)
c.2824C>G (p.His942Asp)
n.3029C>G
n.2646C>G
n.2313C>G
n.2715C>G
n.1460C>G
n.3345C>G
n.3920G>C
n.4182G>C
c.4051C>G (p.His1351Asp)
c.3661C>G (p.His1221Asp)
c.169+1367G>C (n.169+1367G>C)
c.*124+1166G>C (n.*124+1166G>C)
c.*3398C>G (n.*3398C>G)
n.3082G>C
c.3145C>G (p.His1049Asp)
c.952C>G (p.His318Asp)
c.3868C>G (p.His1290Asp)
c.4144C>G (p.His1382Asp)
c.3961C>G (p.His1321Asp)
c.3847C>G (p.His1283Asp)
c.3238C>G (p.His1080Asp)
dbSNP
2g.47806828C>TCA346761717FBXO11,MSH6c.3754C>T (p.His1252Tyr)
c.3667C>T (p.His1223Tyr)
n.4725C>T
c.2485C>T (p.His829Tyr)
c.4057C>T (p.His1353Tyr)
c.1506C>T (n.1506C>T)
c.2824C>T (p.His942Tyr)
n.3029C>T
n.2646C>T
n.2313C>T
n.2715C>T
n.1460C>T
n.3345C>T
n.3920G>A
n.4182G>A
c.4051C>T (p.His1351Tyr)
c.3661C>T (p.His1221Tyr)
c.169+1367G>A (n.169+1367G>A)
c.*124+1166G>A (n.*124+1166G>A)
c.*3398C>T (n.*3398C>T)
n.3082G>A
c.3145C>T (p.His1049Tyr)
c.952C>T (p.His318Tyr)
c.3868C>T (p.His1290Tyr)
c.4144C>T (p.His1382Tyr)
c.3961C>T (p.His1321Tyr)
c.3847C>T (p.His1283Tyr)
c.3238C>T (p.His1080Tyr)
ClinVar dbSNP gnomAD v4
2g.47806828_47806832dupCA658795768FBXO11,MSH6c.3754_3758dup (p.Lys1253AsnfsTer5)
c.3667_3671dup (p.Lys1224AsnfsTer5)
n.4725_4729dup
c.2485_2489dup (p.Lys830AsnfsTer5)
c.4057_4061dup (p.Lys1354AsnfsTer5)
c.1506_1510dup (n.1506_1510dup)
c.2824_2828dup (p.Lys943AsnfsTer5)
n.3029_3033dup
n.2646_2650dup
n.2313_2317dup
n.2715_2719dup
n.1460_1464dup
n.3345_3349dup
n.3916_3920dup
n.4178_4182dup
c.4051_4055dup (p.Lys1352AsnfsTer5)
c.3661_3665dup (p.Lys1222AsnfsTer5)
c.169+1363_169+1367dup (n.169+1363_169+1367dup)
c.*124+1162_*124+1166dup (n.*124+1162_*124+1166dup)
c.*3398_*3402dup (n.*3398_*3402dup)
n.3078_3082dup
c.3145_3149dup (p.Lys1050AsnfsTer5)
c.952_956dup (p.Lys319AsnfsTer5)
c.3868_3872dup (p.Lys1291AsnfsTer5)
c.4144_4148dup (p.Lys1383AsnfsTer5)
c.3961_3965dup (p.Lys1322AsnfsTer5)
c.3847_3851dup (p.Lys1284AsnfsTer5)
c.3238_3242dup (p.Lys1081AsnfsTer5)
ClinVar dbSNP
2g.47806828_47806846dupCA532705590FBXO11,MSH6c.3754_3772dup (p.Ile1258ThrfsTer2)
c.3667_3685dup (p.Ile1229ThrfsTer2)
n.4725_4743dup
c.2485_2503dup (p.Ile835ThrfsTer2)
c.4057_4075dup (p.Ile1359ThrfsTer2)
c.1506_1524dup (n.1506_1524dup)
c.2824_2842dup (p.Ile948ThrfsTer2)
n.3029_3047dup
n.2646_2664dup
n.2313_2331dup
n.2715_2733dup
n.1460_1478dup
n.3345_3363dup
n.3902_3920dup
n.4164_4182dup
c.4051_4069dup (p.Ile1357ThrfsTer2)
c.3661_3679dup (p.Ile1227ThrfsTer2)
c.169+1349_169+1367dup (n.169+1349_169+1367dup)
c.*124+1148_*124+1166dup (n.*124+1148_*124+1166dup)
c.*3398_*3416dup (n.*3398_*3416dup)
n.3064_3082dup
c.3145_3163dup (p.Ile1055ThrfsTer2)
c.952_970dup (p.Ile324ThrfsTer2)
c.3868_3886dup (p.Ile1296ThrfsTer2)
c.4144_4162dup (p.Ile1388ThrfsTer2)
c.3961_3979dup (p.Ile1327ThrfsTer2)
c.3847_3865dup (p.Ile1289ThrfsTer2)
c.3238_3256dup (p.Ile1086ThrfsTer2)
ClinVar dbSNP gnomAD v2 gnomAD v4
2g.47806829A=CA2496054580FBXO11,MSH6c.3755A= (p.His1252=)
c.3668A= (p.His1223=)
n.4726A=
c.2486A= (p.His829=)
c.4058A= (p.His1353=)
c.1507A= (n.1507A=)
c.2825A= (p.His942=)
n.3030A=
n.2647A=
n.2314A=
n.2716A=
n.1461A=
n.3346A=
n.3919T=
n.4181T=
c.4052A= (p.His1351=)
c.3662A= (p.His1221=)
c.169+1366T= (n.169+1366T=)
c.*124+1165T= (n.*124+1165T=)
c.*3399A= (n.*3399A=)
n.3081T=
c.3146A= (p.His1049=)
c.953A= (p.His318=)
c.3869A= (p.His1290=)
c.4145A= (p.His1382=)
c.3962A= (p.His1321=)
c.3848A= (p.His1283=)
c.3239A= (p.His1080=)
2g.47806829A>CCA346761718FBXO11,MSH6c.3755A>C (p.His1252Pro)
c.3668A>C (p.His1223Pro)
n.4726A>C
c.2486A>C (p.His829Pro)
c.4058A>C (p.His1353Pro)
c.1507A>C (n.1507A>C)
c.2825A>C (p.His942Pro)
n.3030A>C
n.2647A>C
n.2314A>C
n.2716A>C
n.1461A>C
n.3346A>C
n.3919T>G
n.4181T>G
c.4052A>C (p.His1351Pro)
c.3662A>C (p.His1221Pro)
c.169+1366T>G (n.169+1366T>G)
c.*124+1165T>G (n.*124+1165T>G)
c.*3399A>C (n.*3399A>C)
n.3081T>G
c.3146A>C (p.His1049Pro)
c.953A>C (p.His318Pro)
c.3869A>C (p.His1290Pro)
c.4145A>C (p.His1382Pro)
c.3962A>C (p.His1321Pro)
c.3848A>C (p.His1283Pro)
c.3239A>C (p.His1080Pro)
ClinVar
2g.47806829A>GCA346761720FBXO11,MSH6c.3755A>G (p.His1252Arg)
c.3668A>G (p.His1223Arg)
n.4726A>G
c.2486A>G (p.His829Arg)
c.4058A>G (p.His1353Arg)
c.1507A>G (n.1507A>G)
c.2825A>G (p.His942Arg)
n.3030A>G
n.2647A>G
n.2314A>G
n.2716A>G
n.1461A>G
n.3346A>G
n.3919T>C
n.4181T>C
c.4052A>G (p.His1351Arg)
c.3662A>G (p.His1221Arg)
c.169+1366T>C (n.169+1366T>C)
c.*124+1165T>C (n.*124+1165T>C)
c.*3399A>G (n.*3399A>G)
n.3081T>C
c.3146A>G (p.His1049Arg)
c.953A>G (p.His318Arg)
c.3869A>G (p.His1290Arg)
c.4145A>G (p.His1382Arg)
c.3962A>G (p.His1321Arg)
c.3848A>G (p.His1283Arg)
c.3239A>G (p.His1080Arg)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.47806829A>TCA346761719FBXO11,MSH6c.3755A>T (p.His1252Leu)
c.3668A>T (p.His1223Leu)
n.4726A>T
c.2486A>T (p.His829Leu)
c.4058A>T (p.His1353Leu)
c.1507A>T (n.1507A>T)
c.2825A>T (p.His942Leu)
n.3030A>T
n.2647A>T
n.2314A>T
n.2716A>T
n.1461A>T
n.3346A>T
n.3919T>A
n.4181T>A
c.4052A>T (p.His1351Leu)
c.3662A>T (p.His1221Leu)
c.169+1366T>A (n.169+1366T>A)
c.*124+1165T>A (n.*124+1165T>A)
c.*3399A>T (n.*3399A>T)
n.3081T>A
c.3146A>T (p.His1049Leu)
c.953A>T (p.His318Leu)
c.3869A>T (p.His1290Leu)
c.4145A>T (p.His1382Leu)
c.3962A>T (p.His1321Leu)
c.3848A>T (p.His1283Leu)
c.3239A>T (p.His1080Leu)
ClinVar dbSNP
2g.47806830_47806849dupCA2573134812FBXO11,MSH6c.3756_3775dup (p.Lys1259IlefsTer4)
c.3669_3688dup (p.Lys1230IlefsTer4)
n.4727_4746dup
c.2487_2506dup (p.Lys836IlefsTer4)
c.4059_4078dup (p.Lys1360IlefsTer4)
c.1508_1527dup (n.1508_1527dup)
c.2826_2845dup (p.Lys949IlefsTer4)
n.3031_3050dup
n.2648_2667dup
n.2315_2334dup
n.2717_2736dup
n.1462_1481dup
n.3347_3366dup
n.3900_3919dup
n.4162_4181dup
c.4053_4072dup (p.Lys1358IlefsTer4)
c.3663_3682dup (p.Lys1228IlefsTer4)
c.169+1347_169+1366dup (n.169+1347_169+1366dup)
c.*124+1146_*124+1165dup (n.*124+1146_*124+1165dup)
c.*3400_*3419dup (n.*3400_*3419dup)
n.3062_3081dup
c.3147_3166dup (p.Lys1056IlefsTer4)
c.954_973dup (p.Lys325IlefsTer4)
c.3870_3889dup (p.Lys1297IlefsTer4)
c.4146_4165dup (p.Lys1389IlefsTer4)
c.3963_3982dup (p.Lys1328IlefsTer4)
c.3849_3868dup (p.Lys1290IlefsTer4)
c.3240_3259dup (p.Lys1087IlefsTer4)
ClinVar dbSNP gnomAD v4
2g.47806830T>ACA346761721FBXO11,MSH6c.3756T>A (p.His1252Gln)
c.3669T>A (p.His1223Gln)
n.4727T>A
c.2487T>A (p.His829Gln)
c.4059T>A (p.His1353Gln)
c.1508T>A (n.1508T>A)
c.2826T>A (p.His942Gln)
n.3031T>A
n.2648T>A
n.2315T>A
n.2717T>A
n.1462T>A
n.3347T>A
n.3918A>T
n.4180A>T
c.4053T>A (p.His1351Gln)
c.3663T>A (p.His1221Gln)
c.169+1365A>T (n.169+1365A>T)
c.*124+1164A>T (n.*124+1164A>T)
c.*3400T>A (n.*3400T>A)
n.3080A>T
c.3147T>A (p.His1049Gln)
c.954T>A (p.His318Gln)
c.3870T>A (p.His1290Gln)
c.4146T>A (p.His1382Gln)
c.3963T>A (p.His1321Gln)
c.3849T>A (p.His1283Gln)
c.3240T>A (p.His1080Gln)
dbSNP
2g.47806830T>CCA426122284FBXO11,MSH6c.3756T>C (p.His1252=)
c.3669T>C (p.His1223=)
n.4727T>C
c.2487T>C (p.His829=)
c.4059T>C (p.His1353=)
c.1508T>C (n.1508T>C)
c.2826T>C (p.His942=)
n.3031T>C
n.2648T>C
n.2315T>C
n.2717T>C
n.1462T>C
n.3347T>C
n.3918A>G
n.4180A>G
c.4053T>C (p.His1351=)
c.3663T>C (p.His1221=)
c.169+1365A>G (n.169+1365A>G)
c.*124+1164A>G (n.*124+1164A>G)
c.*3400T>C (n.*3400T>C)
n.3080A>G
c.3147T>C (p.His1049=)
c.954T>C (p.His318=)
c.3870T>C (p.His1290=)
c.4146T>C (p.His1382=)
c.3963T>C (p.His1321=)
c.3849T>C (p.His1283=)
c.3240T>C (p.His1080=)
ClinVar dbSNP
2g.47806830T>GCA346761722FBXO11,MSH6c.3756T>G (p.His1252Gln)
c.3669T>G (p.His1223Gln)
n.4727T>G
c.2487T>G (p.His829Gln)
c.4059T>G (p.His1353Gln)
c.1508T>G (n.1508T>G)
c.2826T>G (p.His942Gln)
n.3031T>G
n.2648T>G
n.2315T>G
n.2717T>G
n.1462T>G
n.3347T>G
n.3918A>C
n.4180A>C
c.4053T>G (p.His1351Gln)
c.3663T>G (p.His1221Gln)
c.169+1365A>C (n.169+1365A>C)
c.*124+1164A>C (n.*124+1164A>C)
c.*3400T>G (n.*3400T>G)
n.3080A>C
c.3147T>G (p.His1049Gln)
c.954T>G (p.His318Gln)
c.3870T>G (p.His1290Gln)
c.4146T>G (p.His1382Gln)
c.3963T>G (p.His1321Gln)
c.3849T>G (p.His1283Gln)
c.3240T>G (p.His1080Gln)
dbSNP
2g.47806830T=CA2496054581FBXO11,MSH6c.3756T= (p.His1252=)
c.3669T= (p.His1223=)
n.4727T=
c.2487T= (p.His829=)
c.4059T= (p.His1353=)
c.1508T= (n.1508T=)
c.2826T= (p.His942=)
n.3031T=
n.2648T=
n.2315T=
n.2717T=
n.1462T=
n.3347T=
n.3918A=
n.4180A=
c.4053T= (p.His1351=)
c.3663T= (p.His1221=)
c.169+1365A= (n.169+1365A=)
c.*124+1164A= (n.*124+1164A=)
c.*3400T= (n.*3400T=)
n.3080A=
c.3147T= (p.His1049=)
c.954T= (p.His318=)
c.3870T= (p.His1290=)
c.4146T= (p.His1382=)
c.3963T= (p.His1321=)
c.3849T= (p.His1283=)
c.3240T= (p.His1080=)
2g.47806830_47806858dupCA645369290FBXO11,MSH6c.3756_3784dup (p.Ter1262LeuextTer4)
c.3669_3697dup (p.Ter1233LeuextTer4)
n.4727_4755dup
c.2487_2515dup (p.Ter839LeuextTer4)
c.4059_4087dup (p.Ter1363LeuextTer4)
c.1508_1536dup (n.1508_1536dup)
c.2826_2854dup (p.Ter952LeuextTer4)
n.3031_3059dup
n.2648_2676dup
n.2315_2343dup
n.2717_2745dup
n.1462_1490dup
n.3347_3375dup
n.3890_3918dup
n.4152_4180dup
c.4053_4081dup (p.Ter1361LeuextTer4)
c.3663_3691dup (p.Ter1231LeuextTer4)
c.169+1337_169+1365dup (n.169+1337_169+1365dup)
c.*124+1136_*124+1164dup (n.*124+1136_*124+1164dup)
c.*3400_*3428dup (n.*3400_*3428dup)
n.3052_3080dup
c.3147_3175dup (p.Ter1059LeuextTer4)
c.954_982dup (p.Ter328LeuextTer4)
c.3870_3898dup (p.Ter1300LeuextTer4)
c.4146_4174dup (p.Ter1392LeuextTer4)
c.3963_3991dup (p.Ter1331LeuextTer4)
c.3849_3877dup (p.Ter1293LeuextTer4)
c.3240_3268dup (p.Ter1090LeuextTer4)
ClinVar dbSNP gnomAD v3 gnomAD v4
2g.47806831A=CA2496054582FBXO11,MSH6c.3757A= (p.Lys1253=)
c.3670A= (p.Lys1224=)
n.4728A=
c.2488A= (p.Lys830=)
c.4060A= (p.Lys1354=)
c.1509A= (n.1509A=)
c.2827A= (p.Lys943=)
n.3032A=
n.2649A=
n.2316A=
n.2718A=
n.1463A=
n.3348A=
n.3917T=
n.4179T=
c.4054A= (p.Lys1352=)
c.3664A= (p.Lys1222=)
c.169+1364T= (n.169+1364T=)
c.*124+1163T= (n.*124+1163T=)
c.*3401A= (n.*3401A=)
n.3079T=
c.3148A= (p.Lys1050=)
c.955A= (p.Lys319=)
c.3871A= (p.Lys1291=)
c.4147A= (p.Lys1383=)
c.3964A= (p.Lys1322=)
c.3850A= (p.Lys1284=)
c.3241A= (p.Lys1081=)
2g.47806831A>CCA015349FBXO11,MSH6c.3757A>C (p.Lys1253Gln)
c.3670A>C (p.Lys1224Gln)
n.4728A>C
c.2488A>C (p.Lys830Gln)
c.4060A>C (p.Lys1354Gln)
c.1509A>C (n.1509A>C)
c.2827A>C (p.Lys943Gln)
n.3032A>C
n.2649A>C
n.2316A>C
n.2718A>C
n.1463A>C
n.3348A>C
n.3917T>G
n.4179T>G
c.4054A>C (p.Lys1352Gln)
c.3664A>C (p.Lys1222Gln)
c.169+1364T>G (n.169+1364T>G)
c.*124+1163T>G (n.*124+1163T>G)
c.*3401A>C (n.*3401A>C)
n.3079T>G
c.3148A>C (p.Lys1050Gln)
c.955A>C (p.Lys319Gln)
c.3871A>C (p.Lys1291Gln)
c.4147A>C (p.Lys1383Gln)
c.3964A>C (p.Lys1322Gln)
c.3850A>C (p.Lys1284Gln)
c.3241A>C (p.Lys1081Gln)
ClinVar dbSNP
2g.47806831A>GCA346761723FBXO11,MSH6c.3757A>G (p.Lys1253Glu)
c.3670A>G (p.Lys1224Glu)
n.4728A>G
c.2488A>G (p.Lys830Glu)
c.4060A>G (p.Lys1354Glu)
c.1509A>G (n.1509A>G)
c.2827A>G (p.Lys943Glu)
n.3032A>G
n.2649A>G
n.2316A>G
n.2718A>G
n.1463A>G
n.3348A>G
n.3917T>C
n.4179T>C
c.4054A>G (p.Lys1352Glu)
c.3664A>G (p.Lys1222Glu)
c.169+1364T>C (n.169+1364T>C)
c.*124+1163T>C (n.*124+1163T>C)
c.*3401A>G (n.*3401A>G)
n.3079T>C
c.3148A>G (p.Lys1050Glu)
c.955A>G (p.Lys319Glu)
c.3871A>G (p.Lys1291Glu)
c.4147A>G (p.Lys1383Glu)
c.3964A>G (p.Lys1322Glu)
c.3850A>G (p.Lys1284Glu)
c.3241A>G (p.Lys1081Glu)
ClinVar dbSNP gnomAD v4
2g.47806831A>TCA346761724FBXO11,MSH6c.3757A>T (p.Lys1253Ter)
c.3670A>T (p.Lys1224Ter)
n.4728A>T
c.2488A>T (p.Lys830Ter)
c.4060A>T (p.Lys1354Ter)
c.1509A>T (n.1509A>T)
c.2827A>T (p.Lys943Ter)
n.3032A>T
n.2649A>T
n.2316A>T
n.2718A>T
n.1463A>T
n.3348A>T
n.3917T>A
n.4179T>A
c.4054A>T (p.Lys1352Ter)
c.3664A>T (p.Lys1222Ter)
c.169+1364T>A (n.169+1364T>A)
c.*124+1163T>A (n.*124+1163T>A)
c.*3401A>T (n.*3401A>T)
n.3079T>A
c.3148A>T (p.Lys1050Ter)
c.955A>T (p.Lys319Ter)
c.3871A>T (p.Lys1291Ter)
c.4147A>T (p.Lys1383Ter)
c.3964A>T (p.Lys1322Ter)
c.3850A>T (p.Lys1284Ter)
c.3241A>T (p.Lys1081Ter)
dbSNP
2g.47806831_47806832insTTGCTGTCCACA2582342385FBXO11,MSH6c.3757_3758insTTGCTGTCCA (p.Lys1253IlefsTer10)
c.3670_3671insTTGCTGTCCA (p.Lys1224IlefsTer10)
n.4728_4729insTTGCTGTCCA
c.2488_2489insTTGCTGTCCA (p.Lys830IlefsTer10)
c.4060_4061insTTGCTGTCCA (p.Lys1354IlefsTer10)
c.1509_1510insTTGCTGTCCA (n.1509_1510insTTGCTGTCCA)
c.2827_2828insTTGCTGTCCA (p.Lys943IlefsTer10)
n.3032_3033insTTGCTGTCCA
n.2649_2650insTTGCTGTCCA
n.2316_2317insTTGCTGTCCA
n.2718_2719insTTGCTGTCCA
n.1463_1464insTTGCTGTCCA
n.3348_3349insTTGCTGTCCA
n.3917_3918insGGACAGCAAT
n.4179_4180insGGACAGCAAT
c.4054_4055insTTGCTGTCCA (p.Lys1352IlefsTer10)
c.3664_3665insTTGCTGTCCA (p.Lys1222IlefsTer10)
c.169+1364_169+1365insGGACAGCAAT (n.169+1364_169+1365insGGACAGCAAT)
c.*124+1163_*124+1164insGGACAGCAAT (n.*124+1163_*124+1164insGGACAGCAAT)
c.*3401_*3402insTTGCTGTCCA (n.*3401_*3402insTTGCTGTCCA)
n.3079_3080insGGACAGCAAT
c.3148_3149insTTGCTGTCCA (p.Lys1050IlefsTer10)
c.955_956insTTGCTGTCCA (p.Lys319IlefsTer10)
c.3871_3872insTTGCTGTCCA (p.Lys1291IlefsTer10)
c.4147_4148insTTGCTGTCCA (p.Lys1383IlefsTer10)
c.3964_3965insTTGCTGTCCA (p.Lys1322IlefsTer10)
c.3850_3851insTTGCTGTCCA (p.Lys1284IlefsTer10)
c.3241_3242insTTGCTGTCCA (p.Lys1081IlefsTer10)
ClinVar
2g.47806832_47806840dupCA2586964964FBXO11,MSH6c.3758_3766dup (p.Leu1255_Thr1256insLysLeuLeu)
c.3671_3679dup (p.Leu1226_Thr1227insLysLeuLeu)
n.4729_4737dup
c.2489_2497dup (p.Leu832_Thr833insLysLeuLeu)
c.4061_4069dup (p.Leu1356_Thr1357insLysLeuLeu)
c.1510_1518dup (n.1510_1518dup)
c.2828_2836dup (p.Leu945_Thr946insLysLeuLeu)
n.3033_3041dup
n.2650_2658dup
n.2317_2325dup
n.2719_2727dup
n.1464_1472dup
n.3349_3357dup
n.3909_3917dup
n.4171_4179dup
c.4055_4063dup (p.Leu1354_Thr1355insLysLeuLeu)
c.3665_3673dup (p.Leu1224_Thr1225insLysLeuLeu)
c.169+1356_169+1364dup (n.169+1356_169+1364dup)
c.*124+1155_*124+1163dup (n.*124+1155_*124+1163dup)
c.*3402_*3410dup (n.*3402_*3410dup)
n.3071_3079dup
c.3149_3157dup (p.Leu1052_Thr1053insLysLeuLeu)
c.956_964dup (p.Leu321_Thr322insLysLeuLeu)
c.3872_3880dup (p.Leu1293_Thr1294insLysLeuLeu)
c.4148_4156dup (p.Leu1385_Thr1386insLysLeuLeu)
c.3965_3973dup (p.Leu1324_Thr1325insLysLeuLeu)
c.3851_3859dup (p.Leu1286_Thr1287insLysLeuLeu)
c.3242_3250dup (p.Leu1083_Thr1084insLysLeuLeu)
2g.47806832_47806846dupCA2586964965FBXO11,MSH6c.3758_3772dup (p.Leu1257_Ile1258insLysLeuLeuThrLeu)
c.3671_3685dup (p.Leu1228_Ile1229insLysLeuLeuThrLeu)
n.4729_4743dup
c.2489_2503dup (p.Leu834_Ile835insLysLeuLeuThrLeu)
c.4061_4075dup (p.Leu1358_Ile1359insLysLeuLeuThrLeu)
c.1510_1524dup (n.1510_1524dup)
c.2828_2842dup (p.Leu947_Ile948insLysLeuLeuThrLeu)
n.3033_3047dup
n.2650_2664dup
n.2317_2331dup
n.2719_2733dup
n.1464_1478dup
n.3349_3363dup
n.3903_3917dup
n.4165_4179dup
c.4055_4069dup (p.Leu1356_Ile1357insLysLeuLeuThrLeu)
c.3665_3679dup (p.Leu1226_Ile1227insLysLeuLeuThrLeu)
c.169+1350_169+1364dup (n.169+1350_169+1364dup)
c.*124+1149_*124+1163dup (n.*124+1149_*124+1163dup)
c.*3402_*3416dup (n.*3402_*3416dup)
n.3065_3079dup
c.3149_3163dup (p.Leu1054_Ile1055insLysLeuLeuThrLeu)
c.956_970dup (p.Leu323_Ile324insLysLeuLeuThrLeu)
c.3872_3886dup (p.Leu1295_Ile1296insLysLeuLeuThrLeu)
c.4148_4162dup (p.Leu1387_Ile1388insLysLeuLeuThrLeu)
c.3965_3979dup (p.Leu1326_Ile1327insLysLeuLeuThrLeu)
c.3851_3865dup (p.Leu1288_Ile1289insLysLeuLeuThrLeu)
c.3242_3256dup (p.Leu1085_Ile1086insLysLeuLeuThrLeu)
2g.47806832_47806870dupCA916529864FBXO11,MSH6c.3758_*10dup (n.3758_*10dup)
c.3671_*10dup (n.3671_*10dup)
n.4729_4767dup
c.2489_*10dup (n.2489_*10dup)
c.4061_*10dup (n.4061_*10dup)
c.1510_1548dup (n.1510_1548dup)
c.2828_2866dup (n.2828_2866dup)
n.2650_2688dup
n.2317_2355dup
n.2719_2757dup
n.1464_1502dup
n.3349_3387dup
n.3879_3917dup
n.4141_4179dup
c.4055_*10dup (n.4055_*10dup)
c.3665_*10dup (n.3665_*10dup)
c.169+1326_169+1364dup (n.169+1326_169+1364dup)
c.*124+1125_*124+1163dup (n.*124+1125_*124+1163dup)
c.*3402_*3440dup (n.*3402_*3440dup)
n.3041_3079dup
c.3149_*10dup (n.3149_*10dup)
c.956_*10dup (n.956_*10dup)
c.3872_*10dup (n.3872_*10dup)
c.4148_*10dup (n.4148_*10dup)
c.3965_*10dup (n.3965_*10dup)
c.3851_*10dup (n.3851_*10dup)
c.3242_*10dup (n.3242_*10dup)
dbSNP gnomAD v4
2g.47806832A>CCA346761725FBXO11,MSH6c.3758A>C (p.Lys1253Thr)
c.3671A>C (p.Lys1224Thr)
n.4729A>C
c.2489A>C (p.Lys830Thr)
c.4061A>C (p.Lys1354Thr)
c.1510A>C (n.1510A>C)
c.2828A>C (p.Lys943Thr)
n.3033A>C
n.2650A>C
n.2317A>C
n.2719A>C
n.1464A>C
n.3349A>C
n.3916T>G
n.4178T>G
c.4055A>C (p.Lys1352Thr)
c.3665A>C (p.Lys1222Thr)
c.169+1363T>G (n.169+1363T>G)
c.*124+1162T>G (n.*124+1162T>G)
c.*3402A>C (n.*3402A>C)
n.3078T>G
c.3149A>C (p.Lys1050Thr)
c.956A>C (p.Lys319Thr)
c.3872A>C (p.Lys1291Thr)
c.4148A>C (p.Lys1383Thr)
c.3965A>C (p.Lys1322Thr)
c.3851A>C (p.Lys1284Thr)
c.3242A>C (p.Lys1081Thr)
ClinVar
2g.47806832A>GCA346761726FBXO11,MSH6c.3758A>G (p.Lys1253Arg)
c.3671A>G (p.Lys1224Arg)
n.4729A>G
c.2489A>G (p.Lys830Arg)
c.4061A>G (p.Lys1354Arg)
c.1510A>G (n.1510A>G)
c.2828A>G (p.Lys943Arg)
n.3033A>G
n.2650A>G
n.2317A>G
n.2719A>G
n.1464A>G
n.3349A>G
n.3916T>C
n.4178T>C
c.4055A>G (p.Lys1352Arg)
c.3665A>G (p.Lys1222Arg)
c.169+1363T>C (n.169+1363T>C)
c.*124+1162T>C (n.*124+1162T>C)
c.*3402A>G (n.*3402A>G)
n.3078T>C
c.3149A>G (p.Lys1050Arg)
c.956A>G (p.Lys319Arg)
c.3872A>G (p.Lys1291Arg)
c.4148A>G (p.Lys1383Arg)
c.3965A>G (p.Lys1322Arg)
c.3851A>G (p.Lys1284Arg)
c.3242A>G (p.Lys1081Arg)
2g.47806832A>TCA346761727FBXO11,MSH6c.3758A>T (p.Lys1253Ile)
c.3671A>T (p.Lys1224Ile)
n.4729A>T
c.2489A>T (p.Lys830Ile)
c.4061A>T (p.Lys1354Ile)
c.1510A>T (n.1510A>T)
c.2828A>T (p.Lys943Ile)
n.3033A>T
n.2650A>T
n.2317A>T
n.2719A>T
n.1464A>T
n.3349A>T
n.3916T>A
n.4178T>A
c.4055A>T (p.Lys1352Ile)
c.3665A>T (p.Lys1222Ile)
c.169+1363T>A (n.169+1363T>A)
c.*124+1162T>A (n.*124+1162T>A)
c.*3402A>T (n.*3402A>T)
n.3078T>A
c.3149A>T (p.Lys1050Ile)
c.956A>T (p.Lys319Ile)
c.3872A>T (p.Lys1291Ile)
c.4148A>T (p.Lys1383Ile)
c.3965A>T (p.Lys1322Ile)
c.3851A>T (p.Lys1284Ile)
c.3242A>T (p.Lys1081Ile)
2g.47806832_47806834dupCA2573134813FBXO11,MSH6c.3758_3760dup (p.Leu1254Ter)
c.3671_3673dup (p.Leu1225Ter)
n.4729_4731dup
c.2489_2491dup (p.Leu831Ter)
c.4061_4063dup (p.Leu1355Ter)
c.1510_1512dup (n.1510_1512dup)
c.2828_2830dup (p.Leu944Ter)
n.3033_3035dup
n.2650_2652dup
n.2317_2319dup
n.2719_2721dup
n.1464_1466dup
n.3349_3351dup
n.3914_3916dup
n.4176_4178dup
c.4055_4057dup (p.Leu1353Ter)
c.3665_3667dup (p.Leu1223Ter)
c.169+1361_169+1363dup (n.169+1361_169+1363dup)
c.*124+1160_*124+1162dup (n.*124+1160_*124+1162dup)
c.*3402_*3404dup (n.*3402_*3404dup)
n.3076_3078dup
c.3149_3151dup (p.Leu1051Ter)
c.956_958dup (p.Leu320Ter)
c.3872_3874dup (p.Leu1292Ter)
c.4148_4150dup (p.Leu1384Ter)
c.3965_3967dup (p.Leu1323Ter)
c.3851_3853dup (p.Leu1285Ter)
c.3242_3244dup (p.Leu1082Ter)
ClinVar dbSNP gnomAD v4
2g.47806832_47806837dupCA913188081FBXO11,MSH6c.3758_3763dup (p.Leu1254_Leu1255insGlnLeu)
c.3671_3676dup (p.Leu1225_Leu1226insGlnLeu)
n.4729_4734dup
c.2489_2494dup (p.Leu831_Leu832insGlnLeu)
c.4061_4066dup (p.Leu1355_Leu1356insGlnLeu)
c.1510_1515dup (n.1510_1515dup)
c.2828_2833dup (p.Leu944_Leu945insGlnLeu)
n.3033_3038dup
n.2650_2655dup
n.2317_2322dup
n.2719_2724dup
n.1464_1469dup
n.3349_3354dup
n.3911_3916dup
n.4173_4178dup
c.4055_4060dup (p.Leu1353_Leu1354insGlnLeu)
c.3665_3670dup (p.Leu1223_Leu1224insGlnLeu)
c.169+1358_169+1363dup (n.169+1358_169+1363dup)
c.*124+1157_*124+1162dup (n.*124+1157_*124+1162dup)
c.*3402_*3407dup (n.*3402_*3407dup)
n.3073_3078dup
c.3149_3154dup (p.Leu1051_Leu1052insGlnLeu)
c.956_961dup (p.Leu320_Leu321insGlnLeu)
c.3872_3877dup (p.Leu1292_Leu1293insGlnLeu)
c.4148_4153dup (p.Leu1384_Leu1385insGlnLeu)
c.3965_3970dup (p.Leu1323_Leu1324insGlnLeu)
c.3851_3856dup (p.Leu1285_Leu1286insGlnLeu)
c.3242_3247dup (p.Leu1082_Leu1083insGlnLeu)
ClinVar dbSNP
2g.47806832_47806877dupCA913188080FBXO11,MSH6c.3758_*17dup (n.3758_*17dup)
c.3671_*17dup (n.3671_*17dup)
n.4729_4774dup
c.2489_*17dup (n.2489_*17dup)
c.4061_*17dup (n.4061_*17dup)
c.1510_1555dup (n.1510_1555dup)
c.2828_2873dup (n.2828_2873dup)
n.2650_2695dup
n.2317_2362dup
n.2719_2764dup
n.1464_1509dup
n.3349_3394dup
n.3871_3916dup
n.4133_4178dup
c.4055_*17dup (n.4055_*17dup)
c.3665_*17dup (n.3665_*17dup)
c.169+1318_169+1363dup (n.169+1318_169+1363dup)
c.*124+1117_*124+1162dup (n.*124+1117_*124+1162dup)
c.*3402_*3447dup (n.*3402_*3447dup)
n.3033_3078dup
c.3149_*17dup (n.3149_*17dup)
c.956_*17dup (n.956_*17dup)
c.3872_*17dup (n.3872_*17dup)
c.4148_*17dup (n.4148_*17dup)
c.3965_*17dup (n.3965_*17dup)
c.3851_*17dup (n.3851_*17dup)
c.3242_*17dup (n.3242_*17dup)
ClinVar dbSNP
2g.47806833A>CCA346761728FBXO11,MSH6c.3759A>C (p.Lys1253Asn)
c.3672A>C (p.Lys1224Asn)
n.4730A>C
c.2490A>C (p.Lys830Asn)
c.4062A>C (p.Lys1354Asn)
c.1511A>C (n.1511A>C)
c.2829A>C (p.Lys943Asn)
n.3034A>C
n.2651A>C
n.2318A>C
n.2720A>C
n.1465A>C
n.3350A>C
n.3915T>G
n.4177T>G
c.4056A>C (p.Lys1352Asn)
c.3666A>C (p.Lys1222Asn)
c.169+1362T>G (n.169+1362T>G)
c.*124+1161T>G (n.*124+1161T>G)
c.*3403A>C (n.*3403A>C)
n.3077T>G
c.3150A>C (p.Lys1050Asn)
c.957A>C (p.Lys319Asn)
c.3873A>C (p.Lys1291Asn)
c.4149A>C (p.Lys1383Asn)
c.3966A>C (p.Lys1322Asn)
c.3852A>C (p.Lys1284Asn)
c.3243A>C (p.Lys1081Asn)
ClinVar
2g.47806833A>GCA426122285FBXO11,MSH6c.3759A>G (p.Lys1253=)
c.3672A>G (p.Lys1224=)
n.4730A>G
c.2490A>G (p.Lys830=)
c.4062A>G (p.Lys1354=)
c.1511A>G (n.1511A>G)
c.2829A>G (p.Lys943=)
n.3034A>G
n.2651A>G
n.2318A>G
n.2720A>G
n.1465A>G
n.3350A>G
n.3915T>C
n.4177T>C
c.4056A>G (p.Lys1352=)
c.3666A>G (p.Lys1222=)
c.169+1362T>C (n.169+1362T>C)
c.*124+1161T>C (n.*124+1161T>C)
c.*3403A>G (n.*3403A>G)
n.3077T>C
c.3150A>G (p.Lys1050=)
c.957A>G (p.Lys319=)
c.3873A>G (p.Lys1291=)
c.4149A>G (p.Lys1383=)
c.3966A>G (p.Lys1322=)
c.3852A>G (p.Lys1284=)
c.3243A>G (p.Lys1081=)
gnomAD v4
2g.47806833A>TCA346761729FBXO11,MSH6c.3759A>T (p.Lys1253Asn)
c.3672A>T (p.Lys1224Asn)
n.4730A>T
c.2490A>T (p.Lys830Asn)
c.4062A>T (p.Lys1354Asn)
c.1511A>T (n.1511A>T)
c.2829A>T (p.Lys943Asn)
n.3034A>T
n.2651A>T
n.2318A>T
n.2720A>T
n.1465A>T
n.3350A>T
n.3915T>A
n.4177T>A
c.4056A>T (p.Lys1352Asn)
c.3666A>T (p.Lys1222Asn)
c.169+1362T>A (n.169+1362T>A)
c.*124+1161T>A (n.*124+1161T>A)
c.*3403A>T (n.*3403A>T)
n.3077T>A
c.3150A>T (p.Lys1050Asn)
c.957A>T (p.Lys319Asn)
c.3873A>T (p.Lys1291Asn)
c.4149A>T (p.Lys1383Asn)
c.3966A>T (p.Lys1322Asn)
c.3852A>T (p.Lys1284Asn)
c.3243A>T (p.Lys1081Asn)
ClinVar
2g.47806834T>ACA346761731FBXO11,MSH6c.3760T>A (p.Leu1254Met)
c.3673T>A (p.Leu1225Met)
n.4731T>A
c.2491T>A (p.Leu831Met)
c.4063T>A (p.Leu1355Met)
c.1512T>A (n.1512T>A)
c.2830T>A (p.Leu944Met)
n.3035T>A
n.2652T>A
n.2319T>A
n.2721T>A
n.1466T>A
n.3351T>A
n.3914A>T
n.4176A>T
c.4057T>A (p.Leu1353Met)
c.3667T>A (p.Leu1223Met)
c.169+1361A>T (n.169+1361A>T)
c.*124+1160A>T (n.*124+1160A>T)
c.*3404T>A (n.*3404T>A)
n.3076A>T
c.3151T>A (p.Leu1051Met)
c.958T>A (p.Leu320Met)
c.3874T>A (p.Leu1292Met)
c.4150T>A (p.Leu1384Met)
c.3967T>A (p.Leu1323Met)
c.3853T>A (p.Leu1285Met)
c.3244T>A (p.Leu1082Met)
dbSNP
2g.47806834T>CCA426122286FBXO11,MSH6c.3760T>C (p.Leu1254=)
c.3673T>C (p.Leu1225=)
n.4731T>C
c.2491T>C (p.Leu831=)
c.4063T>C (p.Leu1355=)
c.1512T>C (n.1512T>C)
c.2830T>C (p.Leu944=)
n.3035T>C
n.2652T>C
n.2319T>C
n.2721T>C
n.1466T>C
n.3351T>C
n.3914A>G
n.4176A>G
c.4057T>C (p.Leu1353=)
c.3667T>C (p.Leu1223=)
c.169+1361A>G (n.169+1361A>G)
c.*124+1160A>G (n.*124+1160A>G)
c.*3404T>C (n.*3404T>C)
n.3076A>G
c.3151T>C (p.Leu1051=)
c.958T>C (p.Leu320=)
c.3874T>C (p.Leu1292=)
c.4150T>C (p.Leu1384=)
c.3967T>C (p.Leu1323=)
c.3853T>C (p.Leu1285=)
c.3244T>C (p.Leu1082=)
ClinVar gnomAD v4
2g.47806834T>GCA346761730FBXO11,MSH6c.3760T>G (p.Leu1254Val)
c.3673T>G (p.Leu1225Val)
n.4731T>G
c.2491T>G (p.Leu831Val)
c.4063T>G (p.Leu1355Val)
c.1512T>G (n.1512T>G)
c.2830T>G (p.Leu944Val)
n.3035T>G
n.2652T>G
n.2319T>G
n.2721T>G
n.1466T>G
n.3351T>G
n.3914A>C
n.4176A>C
c.4057T>G (p.Leu1353Val)
c.3667T>G (p.Leu1223Val)
c.169+1361A>C (n.169+1361A>C)
c.*124+1160A>C (n.*124+1160A>C)
c.*3404T>G (n.*3404T>G)
n.3076A>C
c.3151T>G (p.Leu1051Val)
c.958T>G (p.Leu320Val)
c.3874T>G (p.Leu1292Val)
c.4150T>G (p.Leu1384Val)
c.3967T>G (p.Leu1323Val)
c.3853T>G (p.Leu1285Val)
c.3244T>G (p.Leu1082Val)
ClinVar dbSNP
2g.47806835T>ACA346761732FBXO11,MSH6c.3761T>A (p.Leu1254Ter)
c.3674T>A (p.Leu1225Ter)
n.4732T>A
c.2492T>A (p.Leu831Ter)
c.4064T>A (p.Leu1355Ter)
c.1513T>A (n.1513T>A)
c.2831T>A (p.Leu944Ter)
n.3036T>A
n.2653T>A
n.2320T>A
n.2722T>A
n.1467T>A
n.3352T>A
n.3913A>T
n.4175A>T
c.4058T>A (p.Leu1353Ter)
c.3668T>A (p.Leu1223Ter)
c.169+1360A>T (n.169+1360A>T)
c.*124+1159A>T (n.*124+1159A>T)
c.*3405T>A (n.*3405T>A)
n.3075A>T
c.3152T>A (p.Leu1051Ter)
c.959T>A (p.Leu320Ter)
c.3875T>A (p.Leu1292Ter)
c.4151T>A (p.Leu1384Ter)
c.3968T>A (p.Leu1323Ter)
c.3854T>A (p.Leu1285Ter)
c.3245T>A (p.Leu1082Ter)
2g.47806835T>CCA346761733FBXO11,MSH6c.3761T>C (p.Leu1254Ser)
c.3674T>C (p.Leu1225Ser)
n.4732T>C
c.2492T>C (p.Leu831Ser)
c.4064T>C (p.Leu1355Ser)
c.1513T>C (n.1513T>C)
c.2831T>C (p.Leu944Ser)
n.3036T>C
n.2653T>C
n.2320T>C
n.2722T>C
n.1467T>C
n.3352T>C
n.3913A>G
n.4175A>G
c.4058T>C (p.Leu1353Ser)
c.3668T>C (p.Leu1223Ser)
c.169+1360A>G (n.169+1360A>G)
c.*124+1159A>G (n.*124+1159A>G)
c.*3405T>C (n.*3405T>C)
n.3075A>G
c.3152T>C (p.Leu1051Ser)
c.959T>C (p.Leu320Ser)
c.3875T>C (p.Leu1292Ser)
c.4151T>C (p.Leu1384Ser)
c.3968T>C (p.Leu1323Ser)
c.3854T>C (p.Leu1285Ser)
c.3245T>C (p.Leu1082Ser)
ClinVar dbSNP
2g.47806835T>GCA072834FBXO11,MSH6c.3761T>G (p.Leu1254Trp)
c.3674T>G (p.Leu1225Trp)
n.4732T>G
c.2492T>G (p.Leu831Trp)
c.4064T>G (p.Leu1355Trp)
c.1513T>G (n.1513T>G)
c.2831T>G (p.Leu944Trp)
n.3036T>G
n.2653T>G
n.2320T>G
n.2722T>G
n.1467T>G
n.3352T>G
n.3913A>C
n.4175A>C
c.4058T>G (p.Leu1353Trp)
c.3668T>G (p.Leu1223Trp)
c.169+1360A>C (n.169+1360A>C)
c.*124+1159A>C (n.*124+1159A>C)
c.*3405T>G (n.*3405T>G)
n.3075A>C
c.3152T>G (p.Leu1051Trp)
c.959T>G (p.Leu320Trp)
c.3875T>G (p.Leu1292Trp)
c.4151T>G (p.Leu1384Trp)
c.3968T>G (p.Leu1323Trp)
c.3854T>G (p.Leu1285Trp)
c.3245T>G (p.Leu1082Trp)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.47806835T=CA2496054583FBXO11,MSH6c.3761T= (p.Leu1254=)
c.3674T= (p.Leu1225=)
n.4732T=
c.2492T= (p.Leu831=)
c.4064T= (p.Leu1355=)
c.1513T= (n.1513T=)
c.2831T= (p.Leu944=)
n.3036T=
n.2653T=
n.2320T=
n.2722T=
n.1467T=
n.3352T=
n.3913A=
n.4175A=
c.4058T= (p.Leu1353=)
c.3668T= (p.Leu1223=)
c.169+1360A= (n.169+1360A=)
c.*124+1159A= (n.*124+1159A=)
c.*3405T= (n.*3405T=)
n.3075A=
c.3152T= (p.Leu1051=)
c.959T= (p.Leu320=)
c.3875T= (p.Leu1292=)
c.4151T= (p.Leu1384=)
c.3968T= (p.Leu1323=)
c.3854T= (p.Leu1285=)
c.3245T= (p.Leu1082=)
2g.47806836G>ACA426122287FBXO11,MSH6c.3762G>A (p.Leu1254=)
c.3675G>A (p.Leu1225=)
n.4733G>A
c.2493G>A (p.Leu831=)
c.4065G>A (p.Leu1355=)
c.1514G>A (n.1514G>A)
c.2832G>A (p.Leu944=)
n.3037G>A
n.2654G>A
n.2321G>A
n.2723G>A
n.1468G>A
n.3353G>A
n.3912C>T
n.4174C>T
c.4059G>A (p.Leu1353=)
c.3669G>A (p.Leu1223=)
c.169+1359C>T (n.169+1359C>T)
c.*124+1158C>T (n.*124+1158C>T)
c.*3406G>A (n.*3406G>A)
n.3074C>T
c.3153G>A (p.Leu1051=)
c.960G>A (p.Leu320=)
c.3876G>A (p.Leu1292=)
c.4152G>A (p.Leu1384=)
c.3969G>A (p.Leu1323=)
c.3855G>A (p.Leu1285=)
c.3246G>A (p.Leu1082=)
ClinVar dbSNP gnomAD v4
2g.47806836G>CCA346761734FBXO11,MSH6c.3762G>C (p.Leu1254Phe)
c.3675G>C (p.Leu1225Phe)
n.4733G>C
c.2493G>C (p.Leu831Phe)
c.4065G>C (p.Leu1355Phe)
c.1514G>C (n.1514G>C)
c.2832G>C (p.Leu944Phe)
n.3037G>C
n.2654G>C
n.2321G>C
n.2723G>C
n.1468G>C
n.3353G>C
n.3912C>G
n.4174C>G
c.4059G>C (p.Leu1353Phe)
c.3669G>C (p.Leu1223Phe)
c.169+1359C>G (n.169+1359C>G)
c.*124+1158C>G (n.*124+1158C>G)
c.*3406G>C (n.*3406G>C)
n.3074C>G
c.3153G>C (p.Leu1051Phe)
c.960G>C (p.Leu320Phe)
c.3876G>C (p.Leu1292Phe)
c.4152G>C (p.Leu1384Phe)
c.3969G>C (p.Leu1323Phe)
c.3855G>C (p.Leu1285Phe)
c.3246G>C (p.Leu1082Phe)
ClinVar dbSNP
2g.47806836G=CA2496054584FBXO11,MSH6c.3762G= (p.Leu1254=)
c.3675G= (p.Leu1225=)
n.4733G=
c.2493G= (p.Leu831=)
c.4065G= (p.Leu1355=)
c.1514G= (n.1514G=)
c.2832G= (p.Leu944=)
n.3037G=
n.2654G=
n.2321G=
n.2723G=
n.1468G=
n.3353G=
n.3912C=
n.4174C=
c.4059G= (p.Leu1353=)
c.3669G= (p.Leu1223=)
c.169+1359C= (n.169+1359C=)
c.*124+1158C= (n.*124+1158C=)
c.*3406G= (n.*3406G=)
n.3074C=
c.3153G= (p.Leu1051=)
c.960G= (p.Leu320=)
c.3876G= (p.Leu1292=)
c.4152G= (p.Leu1384=)
c.3969G= (p.Leu1323=)
c.3855G= (p.Leu1285=)
c.3246G= (p.Leu1082=)
2g.47806836G>TCA346761735FBXO11,MSH6c.3762G>T (p.Leu1254Phe)
c.3675G>T (p.Leu1225Phe)
n.4733G>T
c.2493G>T (p.Leu831Phe)
c.4065G>T (p.Leu1355Phe)
c.1514G>T (n.1514G>T)
c.2832G>T (p.Leu944Phe)
n.3037G>T
n.2654G>T
n.2321G>T
n.2723G>T
n.1468G>T
n.3353G>T
n.3912C>A
n.4174C>A
c.4059G>T (p.Leu1353Phe)
c.3669G>T (p.Leu1223Phe)
c.169+1359C>A (n.169+1359C>A)
c.*124+1158C>A (n.*124+1158C>A)
c.*3406G>T (n.*3406G>T)
n.3074C>A
c.3153G>T (p.Leu1051Phe)
c.960G>T (p.Leu320Phe)
c.3876G>T (p.Leu1292Phe)
c.4152G>T (p.Leu1384Phe)
c.3969G>T (p.Leu1323Phe)
c.3855G>T (p.Leu1285Phe)
c.3246G>T (p.Leu1082Phe)
dbSNP
2g.47806837C>ACA346761736FBXO11,MSH6c.3763C>A (p.Leu1255Met)
c.3676C>A (p.Leu1226Met)
n.4734C>A
c.2494C>A (p.Leu832Met)
c.4066C>A (p.Leu1356Met)
c.1515C>A (n.1515C>A)
c.2833C>A (p.Leu945Met)
n.3038C>A
n.2655C>A
n.2322C>A
n.2724C>A
n.1469C>A
n.3354C>A
n.3911G>T
n.4173G>T
c.4060C>A (p.Leu1354Met)
c.3670C>A (p.Leu1224Met)
c.169+1358G>T (n.169+1358G>T)
c.*124+1157G>T (n.*124+1157G>T)
c.*3407C>A (n.*3407C>A)
n.3073G>T
c.3154C>A (p.Leu1052Met)
c.961C>A (p.Leu321Met)
c.3877C>A (p.Leu1293Met)
c.4153C>A (p.Leu1385Met)
c.3970C>A (p.Leu1324Met)
c.3856C>A (p.Leu1286Met)
c.3247C>A (p.Leu1083Met)
dbSNP
2g.47806837C=CA2496054585FBXO11,MSH6c.3763C= (p.Leu1255=)
c.3676C= (p.Leu1226=)
n.4734C=
c.2494C= (p.Leu832=)
c.4066C= (p.Leu1356=)
c.1515C= (n.1515C=)
c.2833C= (p.Leu945=)
n.3038C=
n.2655C=
n.2322C=
n.2724C=
n.1469C=
n.3354C=
n.3911G=
n.4173G=
c.4060C= (p.Leu1354=)
c.3670C= (p.Leu1224=)
c.169+1358G= (n.169+1358G=)
c.*124+1157G= (n.*124+1157G=)
c.*3407C= (n.*3407C=)
n.3073G=
c.3154C= (p.Leu1052=)
c.961C= (p.Leu321=)
c.3877C= (p.Leu1293=)
c.4153C= (p.Leu1385=)
c.3970C= (p.Leu1324=)
c.3856C= (p.Leu1286=)
c.3247C= (p.Leu1083=)
2g.47806837C>GCA346761737FBXO11,MSH6c.3763C>G (p.Leu1255Val)
c.3676C>G (p.Leu1226Val)
n.4734C>G
c.2494C>G (p.Leu832Val)
c.4066C>G (p.Leu1356Val)
c.1515C>G (n.1515C>G)
c.2833C>G (p.Leu945Val)
n.3038C>G
n.2655C>G
n.2322C>G
n.2724C>G
n.1469C>G
n.3354C>G
n.3911G>C
n.4173G>C
c.4060C>G (p.Leu1354Val)
c.3670C>G (p.Leu1224Val)
c.169+1358G>C (n.169+1358G>C)
c.*124+1157G>C (n.*124+1157G>C)
c.*3407C>G (n.*3407C>G)
n.3073G>C
c.3154C>G (p.Leu1052Val)
c.961C>G (p.Leu321Val)
c.3877C>G (p.Leu1293Val)
c.4153C>G (p.Leu1385Val)
c.3970C>G (p.Leu1324Val)
c.3856C>G (p.Leu1286Val)
c.3247C>G (p.Leu1083Val)
ClinVar dbSNP
2g.47806837C>TCA16604314FBXO11,MSH6c.3763C>T (p.Leu1255=)
c.3676C>T (p.Leu1226=)
n.4734C>T
c.2494C>T (p.Leu832=)
c.4066C>T (p.Leu1356=)
c.1515C>T (n.1515C>T)
c.2833C>T (p.Leu945=)
n.3038C>T
n.2655C>T
n.2322C>T
n.2724C>T
n.1469C>T
n.3354C>T
n.3911G>A
n.4173G>A
c.4060C>T (p.Leu1354=)
c.3670C>T (p.Leu1224=)
c.169+1358G>A (n.169+1358G>A)
c.*124+1157G>A (n.*124+1157G>A)
c.*3407C>T (n.*3407C>T)
n.3073G>A
c.3154C>T (p.Leu1052=)
c.961C>T (p.Leu321=)
c.3877C>T (p.Leu1293=)
c.4153C>T (p.Leu1385=)
c.3970C>T (p.Leu1324=)
c.3856C>T (p.Leu1286=)
c.3247C>T (p.Leu1083=)
ClinVar dbSNP
2g.47806839_47806842dupCA191474FBXO11,MSH6c.3765_3768dup (p.Leu1257AspfsTer4)
c.3678_3681dup (p.Leu1228AspfsTer4)
n.4736_4739dup
c.2496_2499dup (p.Leu834AspfsTer4)
c.4068_4071dup (p.Leu1358AspfsTer4)
c.1517_1520dup (n.1517_1520dup)
c.2835_2838dup (p.Leu947AspfsTer4)
n.3040_3043dup
n.2657_2660dup
n.2324_2327dup
n.2726_2729dup
n.1471_1474dup
n.3356_3359dup
n.3908_3911dup
n.4170_4173dup
c.4062_4065dup (p.Leu1356AspfsTer4)
c.3672_3675dup (p.Leu1226AspfsTer4)
c.169+1355_169+1358dup (n.169+1355_169+1358dup)
c.*124+1154_*124+1157dup (n.*124+1154_*124+1157dup)
c.*3409_*3412dup (n.*3409_*3412dup)
n.3070_3073dup
c.3156_3159dup (p.Leu1054AspfsTer4)
c.963_966dup (p.Leu323AspfsTer4)
c.3879_3882dup (p.Leu1295AspfsTer4)
c.4155_4158dup (p.Leu1387AspfsTer4)
c.3972_3975dup (p.Leu1326AspfsTer4)
c.3858_3861dup (p.Leu1288AspfsTer4)
c.3249_3252dup (p.Leu1085AspfsTer4)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.47806838delCA2658970482FBXO11,MSH6c.3764del (p.Leu1255ArgfsTer3)
c.3677del (p.Leu1226ArgfsTer3)
n.4735del
c.2495del (p.Leu832ArgfsTer3)
c.4067del (p.Leu1356ArgfsTer3)
c.1516del (n.1516del)
c.2834del (p.Leu945ArgfsTer3)
n.3039del
n.2656del
n.2323del
n.2725del
n.1470del
n.3355del
n.3910del
n.4172del
c.4061del (p.Leu1354ArgfsTer3)
c.3671del (p.Leu1224ArgfsTer3)
c.169+1357del (n.169+1357del)
c.*124+1156del (n.*124+1156del)
c.*3408del (n.*3408del)
n.3072del
c.3155del (p.Leu1052ArgfsTer3)
c.962del (p.Leu321ArgfsTer3)
c.3878del (p.Leu1293ArgfsTer3)
c.4154del (p.Leu1385ArgfsTer3)
c.3971del (p.Leu1324ArgfsTer3)
c.3857del (p.Leu1286ArgfsTer3)
c.3248del (p.Leu1083ArgfsTer3)
gnomAD v4
2g.47806838T>ACA015357FBXO11,MSH6c.3764T>A (p.Leu1255Gln)
c.3677T>A (p.Leu1226Gln)
n.4735T>A
c.2495T>A (p.Leu832Gln)
c.4067T>A (p.Leu1356Gln)
c.1516T>A (n.1516T>A)
c.2834T>A (p.Leu945Gln)
n.3039T>A
n.2656T>A
n.2323T>A
n.2725T>A
n.1470T>A
n.3355T>A
n.3910A>T
n.4172A>T
c.4061T>A (p.Leu1354Gln)
c.3671T>A (p.Leu1224Gln)
c.169+1357A>T (n.169+1357A>T)
c.*124+1156A>T (n.*124+1156A>T)
c.*3408T>A (n.*3408T>A)
n.3072A>T
c.3155T>A (p.Leu1052Gln)
c.962T>A (p.Leu321Gln)
c.3878T>A (p.Leu1293Gln)
c.4154T>A (p.Leu1385Gln)
c.3971T>A (p.Leu1324Gln)
c.3857T>A (p.Leu1286Gln)
c.3248T>A (p.Leu1083Gln)
dbSNP
2g.47806838T>CCA015365FBXO11,MSH6c.3764T>C (p.Leu1255Pro)
c.3677T>C (p.Leu1226Pro)
n.4735T>C
c.2495T>C (p.Leu832Pro)
c.4067T>C (p.Leu1356Pro)
c.1516T>C (n.1516T>C)
c.2834T>C (p.Leu945Pro)
n.3039T>C
n.2656T>C
n.2323T>C
n.2725T>C
n.1470T>C
n.3355T>C
n.3910A>G
n.4172A>G
c.4061T>C (p.Leu1354Pro)
c.3671T>C (p.Leu1224Pro)
c.169+1357A>G (n.169+1357A>G)
c.*124+1156A>G (n.*124+1156A>G)
c.*3408T>C (n.*3408T>C)
n.3072A>G
c.3155T>C (p.Leu1052Pro)
c.962T>C (p.Leu321Pro)
c.3878T>C (p.Leu1293Pro)
c.4154T>C (p.Leu1385Pro)
c.3971T>C (p.Leu1324Pro)
c.3857T>C (p.Leu1286Pro)
c.3248T>C (p.Leu1083Pro)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.47806838T>GCA346761738FBXO11,MSH6c.3764T>G (p.Leu1255Arg)
c.3677T>G (p.Leu1226Arg)
n.4735T>G
c.2495T>G (p.Leu832Arg)
c.4067T>G (p.Leu1356Arg)
c.1516T>G (n.1516T>G)
c.2834T>G (p.Leu945Arg)
n.3039T>G
n.2656T>G
n.2323T>G
n.2725T>G
n.1470T>G
n.3355T>G
n.3910A>C
n.4172A>C
c.4061T>G (p.Leu1354Arg)
c.3671T>G (p.Leu1224Arg)
c.169+1357A>C (n.169+1357A>C)
c.*124+1156A>C (n.*124+1156A>C)
c.*3408T>G (n.*3408T>G)
n.3072A>C
c.3155T>G (p.Leu1052Arg)
c.962T>G (p.Leu321Arg)
c.3878T>G (p.Leu1293Arg)
c.4154T>G (p.Leu1385Arg)
c.3971T>G (p.Leu1324Arg)
c.3857T>G (p.Leu1286Arg)
c.3248T>G (p.Leu1083Arg)
2g.47806838T=CA2496054586FBXO11,MSH6c.3764T= (p.Leu1255=)
c.3677T= (p.Leu1226=)
n.4735T=
c.2495T= (p.Leu832=)
c.4067T= (p.Leu1356=)
c.1516T= (n.1516T=)
c.2834T= (p.Leu945=)
n.3039T=
n.2656T=
n.2323T=
n.2725T=
n.1470T=
n.3355T=
n.3910A=
n.4172A=
c.4061T= (p.Leu1354=)
c.3671T= (p.Leu1224=)
c.169+1357A= (n.169+1357A=)
c.*124+1156A= (n.*124+1156A=)
c.*3408T= (n.*3408T=)
n.3072A=
c.3155T= (p.Leu1052=)
c.962T= (p.Leu321=)
c.3878T= (p.Leu1293=)
c.4154T= (p.Leu1385=)
c.3971T= (p.Leu1324=)
c.3857T= (p.Leu1286=)
c.3248T= (p.Leu1083=)
2g.47806841_47806883dupCA072844FBXO11,MSH6c.3767_*23dup (n.3767_*23dup)
c.3680_*23dup (n.3680_*23dup)
n.4738_4780dup
c.2498_*23dup (n.2498_*23dup)
c.4070_*23dup (n.4070_*23dup)
c.1519_1561dup (n.1519_1561dup)
c.2837_2879dup (n.2837_2879dup)
n.2659_2701dup
n.2326_2368dup
n.2728_2770dup
n.1473_1515dup
n.3358_3400dup
n.3868_3910dup
n.4130_4172dup
c.4064_*23dup (n.4064_*23dup)
c.3674_*23dup (n.3674_*23dup)
c.169+1315_169+1357dup (n.169+1315_169+1357dup)
c.*124+1114_*124+1156dup (n.*124+1114_*124+1156dup)
c.*3411_*3453dup (n.*3411_*3453dup)
n.3030_3072dup
c.3158_*23dup (n.3158_*23dup)
c.965_*23dup (n.965_*23dup)
c.3881_*23dup (n.3881_*23dup)
c.4157_*23dup (n.4157_*23dup)
c.3974_*23dup (n.3974_*23dup)
c.3860_*23dup (n.3860_*23dup)
c.3251_*23dup (n.3251_*23dup)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.47806838_47806883dupCA645509107FBXO11,MSH6c.3764_*23dup (n.3764_*23dup)
c.3677_*23dup (n.3677_*23dup)
n.4735_4780dup
c.2495_*23dup (n.2495_*23dup)
c.4067_*23dup (n.4067_*23dup)
c.1516_1561dup (n.1516_1561dup)
c.2834_2879dup (n.2834_2879dup)
n.2656_2701dup
n.2323_2368dup
n.2725_2770dup
n.1470_1515dup
n.3355_3400dup
n.3865_3910dup
n.4127_4172dup
c.4061_*23dup (n.4061_*23dup)
c.3671_*23dup (n.3671_*23dup)
c.169+1312_169+1357dup (n.169+1312_169+1357dup)
c.*124+1111_*124+1156dup (n.*124+1111_*124+1156dup)
c.*3408_*3453dup (n.*3408_*3453dup)
n.3027_3072dup
c.3155_*23dup (n.3155_*23dup)
c.962_*23dup (n.962_*23dup)
c.3878_*23dup (n.3878_*23dup)
c.4154_*23dup (n.4154_*23dup)
c.3971_*23dup (n.3971_*23dup)
c.3857_*23dup (n.3857_*23dup)
c.3248_*23dup (n.3248_*23dup)
ClinVar dbSNP
2g.47806839G>ACA426122288FBXO11,MSH6c.3765G>A (p.Leu1255=)
c.3678G>A (p.Leu1226=)
n.4736G>A
c.2496G>A (p.Leu832=)
c.4068G>A (p.Leu1356=)
c.1517G>A (n.1517G>A)
c.2835G>A (p.Leu945=)
n.3040G>A
n.2657G>A
n.2324G>A
n.2726G>A
n.1471G>A
n.3356G>A
n.3909C>T
n.4171C>T
c.4062G>A (p.Leu1354=)
c.3672G>A (p.Leu1224=)
c.169+1356C>T (n.169+1356C>T)
c.*124+1155C>T (n.*124+1155C>T)
c.*3409G>A (n.*3409G>A)
n.3071C>T
c.3156G>A (p.Leu1052=)
c.963G>A (p.Leu321=)
c.3879G>A (p.Leu1293=)
c.4155G>A (p.Leu1385=)
c.3972G>A (p.Leu1324=)
c.3858G>A (p.Leu1286=)
c.3249G>A (p.Leu1083=)
ClinVar dbSNP gnomAD v4
2g.47806839G>CCA338095FBXO11,MSH6c.3765G>C (p.Leu1255=)
c.3678G>C (p.Leu1226=)
n.4736G>C
c.2496G>C (p.Leu832=)
c.4068G>C (p.Leu1356=)
c.1517G>C (n.1517G>C)
c.2835G>C (p.Leu945=)
n.3040G>C
n.2657G>C
n.2324G>C
n.2726G>C
n.1471G>C
n.3356G>C
n.3909C>G
n.4171C>G
c.4062G>C (p.Leu1354=)
c.3672G>C (p.Leu1224=)
c.169+1356C>G (n.169+1356C>G)
c.*124+1155C>G (n.*124+1155C>G)
c.*3409G>C (n.*3409G>C)
n.3071C>G
c.3156G>C (p.Leu1052=)
c.963G>C (p.Leu321=)
c.3879G>C (p.Leu1293=)
c.4155G>C (p.Leu1385=)
c.3972G>C (p.Leu1324=)
c.3858G>C (p.Leu1286=)
c.3249G>C (p.Leu1083=)
ClinVar dbSNP gnomAD v4
2g.47806839G=CA2496054587FBXO11,MSH6c.3765G= (p.Leu1255=)
c.3678G= (p.Leu1226=)
n.4736G=
c.2496G= (p.Leu832=)
c.4068G= (p.Leu1356=)
c.1517G= (n.1517G=)
c.2835G= (p.Leu945=)
n.3040G=
n.2657G=
n.2324G=
n.2726G=
n.1471G=
n.3356G=
n.3909C=
n.4171C=
c.4062G= (p.Leu1354=)
c.3672G= (p.Leu1224=)
c.169+1356C= (n.169+1356C=)
c.*124+1155C= (n.*124+1155C=)
c.*3409G= (n.*3409G=)
n.3071C=
c.3156G= (p.Leu1052=)
c.963G= (p.Leu321=)
c.3879G= (p.Leu1293=)
c.4155G= (p.Leu1385=)
c.3972G= (p.Leu1324=)
c.3858G= (p.Leu1286=)
c.3249G= (p.Leu1083=)
2g.47806839G>TCA10578177FBXO11,MSH6c.3765G>T (p.Leu1255=)
c.3678G>T (p.Leu1226=)
n.4736G>T
c.2496G>T (p.Leu832=)
c.4068G>T (p.Leu1356=)
c.1517G>T (n.1517G>T)
c.2835G>T (p.Leu945=)
n.3040G>T
n.2657G>T
n.2324G>T
n.2726G>T
n.1471G>T
n.3356G>T
n.3909C>A
n.4171C>A
c.4062G>T (p.Leu1354=)
c.3672G>T (p.Leu1224=)
c.169+1356C>A (n.169+1356C>A)
c.*124+1155C>A (n.*124+1155C>A)
c.*3409G>T (n.*3409G>T)
n.3071C>A
c.3156G>T (p.Leu1052=)
c.963G>T (p.Leu321=)
c.3879G>T (p.Leu1293=)
c.4155G>T (p.Leu1385=)
c.3972G>T (p.Leu1324=)
c.3858G>T (p.Leu1286=)
c.3249G>T (p.Leu1083=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.47806840A>CCA346761739FBXO11,MSH6c.3766A>C (p.Thr1256Pro)
c.3679A>C (p.Thr1227Pro)
n.4737A>C
c.2497A>C (p.Thr833Pro)
c.4069A>C (p.Thr1357Pro)
c.1518A>C (n.1518A>C)
c.2836A>C (p.Thr946Pro)
n.3041A>C
n.2658A>C
n.2325A>C
n.2727A>C
n.1472A>C
n.3357A>C
n.3908T>G
n.4170T>G
c.4063A>C (p.Thr1355Pro)
c.3673A>C (p.Thr1225Pro)
c.169+1355T>G (n.169+1355T>G)
c.*124+1154T>G (n.*124+1154T>G)
c.*3410A>C (n.*3410A>C)
n.3070T>G
c.3157A>C (p.Thr1053Pro)
c.964A>C (p.Thr322Pro)
c.3880A>C (p.Thr1294Pro)
c.4156A>C (p.Thr1386Pro)
c.3973A>C (p.Thr1325Pro)
c.3859A>C (p.Thr1287Pro)
c.3250A>C (p.Thr1084Pro)
2g.47806840A>GCA346761740FBXO11,MSH6c.3766A>G (p.Thr1256Ala)
c.3679A>G (p.Thr1227Ala)
n.4737A>G
c.2497A>G (p.Thr833Ala)
c.4069A>G (p.Thr1357Ala)
c.1518A>G (n.1518A>G)
c.2836A>G (p.Thr946Ala)
n.3041A>G
n.2658A>G
n.2325A>G
n.2727A>G
n.1472A>G
n.3357A>G
n.3908T>C
n.4170T>C
c.4063A>G (p.Thr1355Ala)
c.3673A>G (p.Thr1225Ala)
c.169+1355T>C (n.169+1355T>C)
c.*124+1154T>C (n.*124+1154T>C)
c.*3410A>G (n.*3410A>G)
n.3070T>C
c.3157A>G (p.Thr1053Ala)
c.964A>G (p.Thr322Ala)
c.3880A>G (p.Thr1294Ala)
c.4156A>G (p.Thr1386Ala)
c.3973A>G (p.Thr1325Ala)
c.3859A>G (p.Thr1287Ala)
c.3250A>G (p.Thr1084Ala)
ClinVar dbSNP
2g.47806840A>TCA346761741FBXO11,MSH6c.3766A>T (p.Thr1256Ser)
c.3679A>T (p.Thr1227Ser)
n.4737A>T
c.2497A>T (p.Thr833Ser)
c.4069A>T (p.Thr1357Ser)
c.1518A>T (n.1518A>T)
c.2836A>T (p.Thr946Ser)
n.3041A>T
n.2658A>T
n.2325A>T
n.2727A>T
n.1472A>T
n.3357A>T
n.3908T>A
n.4170T>A
c.4063A>T (p.Thr1355Ser)
c.3673A>T (p.Thr1225Ser)
c.169+1355T>A (n.169+1355T>A)
c.*124+1154T>A (n.*124+1154T>A)
c.*3410A>T (n.*3410A>T)
n.3070T>A
c.3157A>T (p.Thr1053Ser)
c.964A>T (p.Thr322Ser)
c.3880A>T (p.Thr1294Ser)
c.4156A>T (p.Thr1386Ser)
c.3973A>T (p.Thr1325Ser)
c.3859A>T (p.Thr1287Ser)
c.3250A>T (p.Thr1084Ser)
2g.47806841C>ACA346761742FBXO11,MSH6c.3767C>A (p.Thr1256Asn)
c.3680C>A (p.Thr1227Asn)
n.4738C>A
c.2498C>A (p.Thr833Asn)
c.4070C>A (p.Thr1357Asn)
c.1519C>A (n.1519C>A)
c.2837C>A (p.Thr946Asn)
n.3042C>A
n.2659C>A
n.2326C>A
n.2728C>A
n.1473C>A
n.3358C>A
n.3907G>T
n.4169G>T
c.4064C>A (p.Thr1355Asn)
c.3674C>A (p.Thr1225Asn)
c.169+1354G>T (n.169+1354G>T)
c.*124+1153G>T (n.*124+1153G>T)
c.*3411C>A (n.*3411C>A)
n.3069G>T
c.3158C>A (p.Thr1053Asn)
c.965C>A (p.Thr322Asn)
c.3881C>A (p.Thr1294Asn)
c.4157C>A (p.Thr1386Asn)
c.3974C>A (p.Thr1325Asn)
c.3860C>A (p.Thr1287Asn)
c.3251C>A (p.Thr1084Asn)
dbSNP
2g.47806841C=CA2496054588FBXO11,MSH6c.3767C= (p.Thr1256=)
c.3680C= (p.Thr1227=)
n.4738C=
c.2498C= (p.Thr833=)
c.4070C= (p.Thr1357=)
c.1519C= (n.1519C=)
c.2837C= (p.Thr946=)
n.3042C=
n.2659C=
n.2326C=
n.2728C=
n.1473C=
n.3358C=
n.3907G=
n.4169G=
c.4064C= (p.Thr1355=)
c.3674C= (p.Thr1225=)
c.169+1354G= (n.169+1354G=)
c.*124+1153G= (n.*124+1153G=)
c.*3411C= (n.*3411C=)
n.3069G=
c.3158C= (p.Thr1053=)
c.965C= (p.Thr322=)
c.3881C= (p.Thr1294=)
c.4157C= (p.Thr1386=)
c.3974C= (p.Thr1325=)
c.3860C= (p.Thr1287=)
c.3251C= (p.Thr1084=)
2g.47806841C>GCA339279FBXO11,MSH6c.3767C>G (p.Thr1256Ser)
c.3680C>G (p.Thr1227Ser)
n.4738C>G
c.2498C>G (p.Thr833Ser)
c.4070C>G (p.Thr1357Ser)
c.1519C>G (n.1519C>G)
c.2837C>G (p.Thr946Ser)
n.3042C>G
n.2659C>G
n.2326C>G
n.2728C>G
n.1473C>G
n.3358C>G
n.3907G>C
n.4169G>C
c.4064C>G (p.Thr1355Ser)
c.3674C>G (p.Thr1225Ser)
c.169+1354G>C (n.169+1354G>C)
c.*124+1153G>C (n.*124+1153G>C)
c.*3411C>G (n.*3411C>G)
n.3069G>C
c.3158C>G (p.Thr1053Ser)
c.965C>G (p.Thr322Ser)
c.3881C>G (p.Thr1294Ser)
c.4157C>G (p.Thr1386Ser)
c.3974C>G (p.Thr1325Ser)
c.3860C>G (p.Thr1287Ser)
c.3251C>G (p.Thr1084Ser)
ClinVar dbSNP gnomAD v3 gnomAD v4
2g.47806841C>TCA346761743FBXO11,MSH6c.3767C>T (p.Thr1256Ile)
c.3680C>T (p.Thr1227Ile)
n.4738C>T
c.2498C>T (p.Thr833Ile)
c.4070C>T (p.Thr1357Ile)
c.1519C>T (n.1519C>T)
c.2837C>T (p.Thr946Ile)
n.3042C>T
n.2659C>T
n.2326C>T
n.2728C>T
n.1473C>T
n.3358C>T
n.3907G>A
n.4169G>A
c.4064C>T (p.Thr1355Ile)
c.3674C>T (p.Thr1225Ile)
c.169+1354G>A (n.169+1354G>A)
c.*124+1153G>A (n.*124+1153G>A)
c.*3411C>T (n.*3411C>T)
n.3069G>A
c.3158C>T (p.Thr1053Ile)
c.965C>T (p.Thr322Ile)
c.3881C>T (p.Thr1294Ile)
c.4157C>T (p.Thr1386Ile)
c.3974C>T (p.Thr1325Ile)
c.3860C>T (p.Thr1287Ile)
c.3251C>T (p.Thr1084Ile)
ClinVar dbSNP
2g.47806847_47806883delCA2740095604FBXO11,MSH6c.3773_*23del (n.[c.3773_*23del;Ile1258SerfsTer2])
c.3686_*23del (n.[c.3686_*23del;Ile1229SerfsTer2])
n.4744_4780del
c.2504_*23del (n.[c.2504_*23del;Ile835SerfsTer2])
c.4076_*23del (n.[c.4076_*23del;Ile1359SerfsTer2])
c.1525_1561del (n.1525_1561del)
c.2843_2879del (n.[c.2843_2879del;Ile948SerfsTer2])
n.2665_2701del
n.2332_2368del
n.2734_2770del
n.1479_1515del
n.3364_3400del
n.3871_3907del
n.4133_4169del
c.4070_*23del (n.[c.4070_*23del;Ile1357SerfsTer2])
c.3680_*23del (n.[c.3680_*23del;Ile1227SerfsTer2])
c.169+1318_169+1354del (n.169+1318_169+1354del)
c.*124+1117_*124+1153del (n.*124+1117_*124+1153del)
c.*3417_*3453del (n.*3417_*3453del)
n.3033_3069del
c.3164_*23del (n.[c.3164_*23del;Ile1055SerfsTer2])
c.971_*23del (n.[c.971_*23del;Ile324SerfsTer2])
c.3887_*23del (n.[c.3887_*23del;Ile1296SerfsTer2])
c.4163_*23del (n.[c.4163_*23del;Ile1388SerfsTer2])
c.3980_*23del (n.[c.3980_*23del;Ile1327SerfsTer2])
c.3866_*23del (n.[c.3866_*23del;Ile1289SerfsTer2])
c.3257_*23del (n.[c.3257_*23del;Ile1086SerfsTer2])
ClinVar
2g.47806841_47806842insGTCACA015374FBXO11,MSH6c.3767_3768insGTCA (p.Leu1257SerfsTer4)
c.3680_3681insGTCA (p.Leu1228SerfsTer4)
n.4738_4739insGTCA
c.2498_2499insGTCA (p.Leu834SerfsTer4)
c.4070_4071insGTCA (p.Leu1358SerfsTer4)
c.1519_1520insGTCA (n.1519_1520insGTCA)
c.2837_2838insGTCA (p.Leu947SerfsTer4)
n.3042_3043insGTCA
n.2659_2660insGTCA
n.2326_2327insGTCA
n.2728_2729insGTCA
n.1473_1474insGTCA
n.3358_3359insGTCA
n.3906_3907insTGAC
n.4168_4169insTGAC
c.4064_4065insGTCA (p.Leu1356SerfsTer4)
c.3674_3675insGTCA (p.Leu1226SerfsTer4)
c.169+1353_169+1354insTGAC (n.169+1353_169+1354insTGAC)
c.*124+1152_*124+1153insTGAC (n.*124+1152_*124+1153insTGAC)
c.*3411_*3412insGTCA (n.*3411_*3412insGTCA)
n.3068_3069insTGAC
c.3158_3159insGTCA (p.Leu1054SerfsTer4)
c.965_966insGTCA (p.Leu323SerfsTer4)
c.3881_3882insGTCA (p.Leu1295SerfsTer4)
c.4157_4158insGTCA (p.Leu1387SerfsTer4)
c.3974_3975insGTCA (p.Leu1326SerfsTer4)
c.3860_3861insGTCA (p.Leu1288SerfsTer4)
c.3251_3252insGTCA (p.Leu1085SerfsTer4)
ClinVar dbSNP
2g.47806842T>ACA426122289FBXO11,MSH6c.3768T>A (p.Thr1256=)
c.3681T>A (p.Thr1227=)
n.4739T>A
c.2499T>A (p.Thr833=)
c.4071T>A (p.Thr1357=)
c.1520T>A (n.1520T>A)
c.2838T>A (p.Thr946=)
n.3043T>A
n.2660T>A
n.2327T>A
n.2729T>A
n.1474T>A
n.3359T>A
n.3906A>T
n.4168A>T
c.4065T>A (p.Thr1355=)
c.3675T>A (p.Thr1225=)
c.169+1353A>T (n.169+1353A>T)
c.*124+1152A>T (n.*124+1152A>T)
c.*3412T>A (n.*3412T>A)
n.3068A>T
c.3159T>A (p.Thr1053=)
c.966T>A (p.Thr322=)
c.3882T>A (p.Thr1294=)
c.4158T>A (p.Thr1386=)
c.3975T>A (p.Thr1325=)
c.3861T>A (p.Thr1287=)
c.3252T>A (p.Thr1084=)
dbSNP gnomAD v3 gnomAD v4
2g.47806842T>CCA426122290FBXO11,MSH6c.3768T>C (p.Thr1256=)
c.3681T>C (p.Thr1227=)
n.4739T>C
c.2499T>C (p.Thr833=)
c.4071T>C (p.Thr1357=)
c.1520T>C (n.1520T>C)
c.2838T>C (p.Thr946=)
n.3043T>C
n.2660T>C
n.2327T>C
n.2729T>C
n.1474T>C
n.3359T>C
n.3906A>G
n.4168A>G
c.4065T>C (p.Thr1355=)
c.3675T>C (p.Thr1225=)
c.169+1353A>G (n.169+1353A>G)
c.*124+1152A>G (n.*124+1152A>G)
c.*3412T>C (n.*3412T>C)
n.3068A>G
c.3159T>C (p.Thr1053=)
c.966T>C (p.Thr322=)
c.3882T>C (p.Thr1294=)
c.4158T>C (p.Thr1386=)
c.3975T>C (p.Thr1325=)
c.3861T>C (p.Thr1287=)
c.3252T>C (p.Thr1084=)
ClinVar dbSNP
2g.47806842T>GCA072852FBXO11,MSH6c.3768T>G (p.Thr1256=)
c.3681T>G (p.Thr1227=)
n.4739T>G
c.2499T>G (p.Thr833=)
c.4071T>G (p.Thr1357=)
c.1520T>G (n.1520T>G)
c.2838T>G (p.Thr946=)
n.3043T>G
n.2660T>G
n.2327T>G
n.2729T>G
n.1474T>G
n.3359T>G
n.3906A>C
n.4168A>C
c.4065T>G (p.Thr1355=)
c.3675T>G (p.Thr1225=)
c.169+1353A>C (n.169+1353A>C)
c.*124+1152A>C (n.*124+1152A>C)
c.*3412T>G (n.*3412T>G)
n.3068A>C
c.3159T>G (p.Thr1053=)
c.966T>G (p.Thr322=)
c.3882T>G (p.Thr1294=)
c.4158T>G (p.Thr1386=)
c.3975T>G (p.Thr1325=)
c.3861T>G (p.Thr1287=)
c.3252T>G (p.Thr1084=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.47806842T=CA2496054590FBXO11,MSH6c.3768T= (p.Thr1256=)
c.3681T= (p.Thr1227=)
n.4739T=
c.2499T= (p.Thr833=)
c.4071T= (p.Thr1357=)
c.1520T= (n.1520T=)
c.2838T= (p.Thr946=)
n.3043T=
n.2660T=
n.2327T=
n.2729T=
n.1474T=
n.3359T=
n.3906A=
n.4168A=
c.4065T= (p.Thr1355=)
c.3675T= (p.Thr1225=)
c.169+1353A= (n.169+1353A=)
c.*124+1152A= (n.*124+1152A=)
c.*3412T= (n.*3412T=)
n.3068A=
c.3159T= (p.Thr1053=)
c.966T= (p.Thr322=)
c.3882T= (p.Thr1294=)
c.4158T= (p.Thr1386=)
c.3975T= (p.Thr1325=)
c.3861T= (p.Thr1287=)
c.3252T= (p.Thr1084=)
2g.47806844dupCA2697548146FBXO11,MSH6c.3770dup (p.Leu1257PhefsTer3)
c.3683dup (p.Leu1228PhefsTer3)
n.4741dup
c.2501dup (p.Leu834PhefsTer3)
c.4073dup (p.Leu1358PhefsTer3)
c.1522dup (n.1522dup)
c.2840dup (p.Leu947PhefsTer3)
n.3045dup
n.2662dup
n.2329dup
n.2731dup
n.1476dup
n.3361dup
n.3906dup
n.4168dup
c.4067dup (p.Leu1356PhefsTer3)
c.3677dup (p.Leu1226PhefsTer3)
c.169+1353dup (n.169+1353dup)
c.*124+1152dup (n.*124+1152dup)
c.*3414dup (n.*3414dup)
n.3068dup
c.3161dup (p.Leu1054PhefsTer3)
c.968dup (p.Leu323PhefsTer3)
c.3884dup (p.Leu1295PhefsTer3)
c.4160dup (p.Leu1387PhefsTer3)
c.3977dup (p.Leu1326PhefsTer3)
c.3863dup (p.Leu1288PhefsTer3)
c.3254dup (p.Leu1085PhefsTer3)
ClinVar
2g.47806843_47806844dupCA2580067601FBXO11,MSH6c.3769_3770dup (p.Leu1257PhefsTer2)
c.3682_3683dup (p.Leu1228PhefsTer2)
n.4740_4741dup
c.2500_2501dup (p.Leu834PhefsTer2)
c.4072_4073dup (p.Leu1358PhefsTer2)
c.1521_1522dup (n.1521_1522dup)
c.2839_2840dup (p.Leu947PhefsTer2)
n.3044_3045dup
n.2661_2662dup
n.2328_2329dup
n.2730_2731dup
n.1475_1476dup
n.3360_3361dup
n.3905_3906dup
n.4167_4168dup
c.4066_4067dup (p.Leu1356PhefsTer2)
c.3676_3677dup (p.Leu1226PhefsTer2)
c.169+1352_169+1353dup (n.169+1352_169+1353dup)
c.*124+1151_*124+1152dup (n.*124+1151_*124+1152dup)
c.*3413_*3414dup (n.*3413_*3414dup)
n.3067_3068dup
c.3160_3161dup (p.Leu1054PhefsTer2)
c.967_968dup (p.Leu323PhefsTer2)
c.3883_3884dup (p.Leu1295PhefsTer2)
c.4159_4160dup (p.Leu1387PhefsTer2)
c.3976_3977dup (p.Leu1326PhefsTer2)
c.3862_3863dup (p.Leu1288PhefsTer2)
c.3253_3254dup (p.Leu1085PhefsTer2)
ClinVar
2g.47806843_47806844delCA2658970496FBXO11,MSH6c.3769_3770del (p.Leu1257AspfsTer2)
c.3682_3683del (p.Leu1228AspfsTer2)
n.4740_4741del
c.2500_2501del (p.Leu834AspfsTer2)
c.4072_4073del (p.Leu1358AspfsTer2)
c.1521_1522del (n.1521_1522del)
c.2839_2840del (p.Leu947AspfsTer2)
n.3044_3045del
n.2661_2662del
n.2328_2329del
n.2730_2731del
n.1475_1476del
n.3360_3361del
n.3905_3906del
n.4167_4168del
c.4066_4067del (p.Leu1356AspfsTer2)
c.3676_3677del (p.Leu1226AspfsTer2)
c.169+1352_169+1353del (n.169+1352_169+1353del)
c.*124+1151_*124+1152del (n.*124+1151_*124+1152del)
c.*3413_*3414del (n.*3413_*3414del)
n.3067_3068del
c.3160_3161del (p.Leu1054AspfsTer2)
c.967_968del (p.Leu323AspfsTer2)
c.3883_3884del (p.Leu1295AspfsTer2)
c.4159_4160del (p.Leu1387AspfsTer2)
c.3976_3977del (p.Leu1326AspfsTer2)
c.3862_3863del (p.Leu1288AspfsTer2)
c.3253_3254del (p.Leu1085AspfsTer2)
gnomAD v4
2g.47806842_47806846delinsTTTGACA2496054589FBXO11,MSH6c.3768_3772delinsTTTGA (p.Thr1256=)
c.3681_3685delinsTTTGA (p.Thr1227=)
n.4739_4743delinsTTTGA
c.2499_2503delinsTTTGA (p.Thr833=)
c.4071_4075delinsTTTGA (p.Thr1357=)
c.1520_1524delinsTTTGA (n.1520_1524delinsTTTGA)
c.2838_2842delinsTTTGA (p.Thr946=)
n.3043_3047delinsTTTGA
n.2660_2664delinsTTTGA
n.2327_2331delinsTTTGA
n.2729_2733delinsTTTGA
n.1474_1478delinsTTTGA
n.3359_3363delinsTTTGA
n.3902_3906delinsTCAAA
n.4164_4168delinsTCAAA
c.4065_4069delinsTTTGA (p.Thr1355=)
c.3675_3679delinsTTTGA (p.Thr1225=)
c.169+1349_169+1353delinsTCAAA (n.169+1349_169+1353delinsTCAAA)
c.*124+1148_*124+1152delinsTCAAA (n.*124+1148_*124+1152delinsTCAAA)
c.*3412_*3416delinsTTTGA (n.*3412_*3416delinsTTTGA)
n.3064_3068delinsTCAAA
c.3159_3163delinsTTTGA (p.Thr1053=)
c.966_970delinsTTTGA (p.Thr322=)
c.3882_3886delinsTTTGA (p.Thr1294=)
c.4158_4162delinsTTTGA (p.Thr1386=)
c.3975_3979delinsTTTGA (p.Thr1325=)
c.3861_3865delinsTTTGA (p.Thr1287=)
c.3252_3256delinsTTTGA (p.Thr1084=)
2g.47806844_47806848dupCA2697548145FBXO11,MSH6c.3770_3774dup (p.Lys1259Ter)
c.3683_3687dup (p.Lys1230Ter)
n.4741_4745dup
c.2501_2505dup (p.Lys836Ter)
c.4073_4077dup (p.Lys1360Ter)
c.1522_1526dup (n.1522_1526dup)
c.2840_2844dup (p.Lys949Ter)
n.3045_3049dup
n.2662_2666dup
n.2329_2333dup
n.2731_2735dup
n.1476_1480dup
n.3361_3365dup
n.3902_3906dup
n.4164_4168dup
c.4067_4071dup (p.Lys1358Ter)
c.3677_3681dup (p.Lys1228Ter)
c.169+1349_169+1353dup (n.169+1349_169+1353dup)
c.*124+1148_*124+1152dup (n.*124+1148_*124+1152dup)
c.*3414_*3418dup (n.*3414_*3418dup)
n.3064_3068dup
c.3161_3165dup (p.Lys1056Ter)
c.968_972dup (p.Lys325Ter)
c.3884_3888dup (p.Lys1297Ter)
c.4160_4164dup (p.Lys1389Ter)
c.3977_3981dup (p.Lys1328Ter)
c.3863_3867dup (p.Lys1290Ter)
c.3254_3258dup (p.Lys1087Ter)
ClinVar
2g.47806843T>ACA346761744FBXO11,MSH6c.3769T>A (p.Leu1257Met)
c.3682T>A (p.Leu1228Met)
n.4740T>A
c.2500T>A (p.Leu834Met)
c.4072T>A (p.Leu1358Met)
c.1521T>A (n.1521T>A)
c.2839T>A (p.Leu947Met)
n.3044T>A
n.2661T>A
n.2328T>A
n.2730T>A
n.1475T>A
n.3360T>A
n.3905A>T
n.4167A>T
c.4066T>A (p.Leu1356Met)
c.3676T>A (p.Leu1226Met)
c.169+1352A>T (n.169+1352A>T)
c.*124+1151A>T (n.*124+1151A>T)
c.*3413T>A (n.*3413T>A)
n.3067A>T
c.3160T>A (p.Leu1054Met)
c.967T>A (p.Leu323Met)
c.3883T>A (p.Leu1295Met)
c.4159T>A (p.Leu1387Met)
c.3976T>A (p.Leu1326Met)
c.3862T>A (p.Leu1288Met)
c.3253T>A (p.Leu1085Met)
2g.47806843T>CCA426122291FBXO11,MSH6c.3769T>C (p.Leu1257=)
c.3682T>C (p.Leu1228=)
n.4740T>C
c.2500T>C (p.Leu834=)
c.4072T>C (p.Leu1358=)
c.1521T>C (n.1521T>C)
c.2839T>C (p.Leu947=)
n.3044T>C
n.2661T>C
n.2328T>C
n.2730T>C
n.1475T>C
n.3360T>C
n.3905A>G
n.4167A>G
c.4066T>C (p.Leu1356=)
c.3676T>C (p.Leu1226=)
c.169+1352A>G (n.169+1352A>G)
c.*124+1151A>G (n.*124+1151A>G)
c.*3413T>C (n.*3413T>C)
n.3067A>G
c.3160T>C (p.Leu1054=)
c.967T>C (p.Leu323=)
c.3883T>C (p.Leu1295=)
c.4159T>C (p.Leu1387=)
c.3976T>C (p.Leu1326=)
c.3862T>C (p.Leu1288=)
c.3253T>C (p.Leu1085=)
2g.47806843T>GCA346761745FBXO11,MSH6c.3769T>G (p.Leu1257Val)
c.3682T>G (p.Leu1228Val)
n.4740T>G
c.2500T>G (p.Leu834Val)
c.4072T>G (p.Leu1358Val)
c.1521T>G (n.1521T>G)
c.2839T>G (p.Leu947Val)
n.3044T>G
n.2661T>G
n.2328T>G
n.2730T>G
n.1475T>G
n.3360T>G
n.3905A>C
n.4167A>C
c.4066T>G (p.Leu1356Val)
c.3676T>G (p.Leu1226Val)
c.169+1352A>C (n.169+1352A>C)
c.*124+1151A>C (n.*124+1151A>C)
c.*3413T>G (n.*3413T>G)
n.3067A>C
c.3160T>G (p.Leu1054Val)
c.967T>G (p.Leu323Val)
c.3883T>G (p.Leu1295Val)
c.4159T>G (p.Leu1387Val)
c.3976T>G (p.Leu1326Val)
c.3862T>G (p.Leu1288Val)
c.3253T>G (p.Leu1085Val)
ClinVar dbSNP gnomAD v2 gnomAD v4
2g.47806843T=CA2496054591FBXO11,MSH6c.3769T= (p.Leu1257=)
c.3682T= (p.Leu1228=)
n.4740T=
c.2500T= (p.Leu834=)
c.4072T= (p.Leu1358=)
c.1521T= (n.1521T=)
c.2839T= (p.Leu947=)
n.3044T=
n.2661T=
n.2328T=
n.2730T=
n.1475T=
n.3360T=
n.3905A=
n.4167A=
c.4066T= (p.Leu1356=)
c.3676T= (p.Leu1226=)
c.169+1352A= (n.169+1352A=)
c.*124+1151A= (n.*124+1151A=)
c.*3413T= (n.*3413T=)
n.3067A=
c.3160T= (p.Leu1054=)
c.967T= (p.Leu323=)
c.3883T= (p.Leu1295=)
c.4159T= (p.Leu1387=)
c.3976T= (p.Leu1326=)
c.3862T= (p.Leu1288=)
c.3253T= (p.Leu1085=)
2g.47806845_47806846insGTTGCA015388FBXO11,MSH6c.3771_3772insGTTG (p.Ile1258ValfsTer3)
c.3684_3685insGTTG (p.Ile1229ValfsTer3)
n.4742_4743insGTTG
c.2502_2503insGTTG (p.Ile835ValfsTer3)
c.4074_4075insGTTG (p.Ile1359ValfsTer3)
c.1523_1524insGTTG (n.1523_1524insGTTG)
c.2841_2842insGTTG (p.Ile948ValfsTer3)
n.3046_3047insGTTG
n.2663_2664insGTTG
n.2330_2331insGTTG
n.2732_2733insGTTG
n.1477_1478insGTTG
n.3362_3363insGTTG
n.3905_3906insCCAA
n.4167_4168insCCAA
c.4068_4069insGTTG (p.Ile1357ValfsTer3)
c.3678_3679insGTTG (p.Ile1227ValfsTer3)
c.169+1352_169+1353insCCAA (n.169+1352_169+1353insCCAA)
c.*124+1151_*124+1152insCCAA (n.*124+1151_*124+1152insCCAA)
c.*3415_*3416insGTTG (n.*3415_*3416insGTTG)
n.3067_3068insCCAA
c.3162_3163insGTTG (p.Ile1055ValfsTer3)
c.969_970insGTTG (p.Ile324ValfsTer3)
c.3885_3886insGTTG (p.Ile1296ValfsTer3)
c.4161_4162insGTTG (p.Ile1388ValfsTer3)
c.3978_3979insGTTG (p.Ile1327ValfsTer3)
c.3864_3865insGTTG (p.Ile1289ValfsTer3)
c.3255_3256insGTTG (p.Ile1086ValfsTer3)
ClinVar dbSNP
2g.47806848_47806849insGATTGATTCA913188082FBXO11,MSH6c.3774_3775insGATTGATT (p.Lys1259AspfsTer2)
c.3687_3688insGATTGATT (p.Lys1230AspfsTer2)
n.4745_4746insGATTGATT
c.2505_2506insGATTGATT (p.Lys836AspfsTer2)
c.4077_4078insGATTGATT (p.Lys1360AspfsTer2)
c.1526_1527insGATTGATT (n.1526_1527insGATTGATT)
c.2844_2845insGATTGATT (p.Lys949AspfsTer2)
n.3049_3050insGATTGATT
n.2666_2667insGATTGATT
n.2333_2334insGATTGATT
n.2735_2736insGATTGATT
n.1480_1481insGATTGATT
n.3365_3366insGATTGATT
n.3905_3906insTCAATCAA
n.4167_4168insTCAATCAA
c.4071_4072insGATTGATT (p.Lys1358AspfsTer2)
c.3681_3682insGATTGATT (p.Lys1228AspfsTer2)
c.169+1352_169+1353insTCAATCAA (n.169+1352_169+1353insTCAATCAA)
c.*124+1151_*124+1152insTCAATCAA (n.*124+1151_*124+1152insTCAATCAA)
c.*3418_*3419insGATTGATT (n.*3418_*3419insGATTGATT)
n.3067_3068insTCAATCAA
c.3165_3166insGATTGATT (p.Lys1056AspfsTer2)
c.972_973insGATTGATT (p.Lys325AspfsTer2)
c.3888_3889insGATTGATT (p.Lys1297AspfsTer2)
c.4164_4165insGATTGATT (p.Lys1389AspfsTer2)
c.3981_3982insGATTGATT (p.Lys1328AspfsTer2)
c.3867_3868insGATTGATT (p.Lys1290AspfsTer2)
c.3258_3259insGATTGATT (p.Lys1087AspfsTer2)
ClinVar dbSNP
2g.47806845_47806848dupCA015381FBXO11,MSH6c.3771_3774dup (p.Lys1259AspfsTer2)
c.3684_3687dup (p.Lys1230AspfsTer2)
n.4742_4745dup
c.2502_2505dup (p.Lys836AspfsTer2)
c.4074_4077dup (p.Lys1360AspfsTer2)
c.1523_1526dup (n.1523_1526dup)
c.2841_2844dup (p.Lys949AspfsTer2)
n.3046_3049dup
n.2663_2666dup
n.2330_2333dup
n.2732_2735dup
n.1477_1480dup
n.3362_3365dup
n.3902_3905dup
n.4164_4167dup
c.4068_4071dup (p.Lys1358AspfsTer2)
c.3678_3681dup (p.Lys1228AspfsTer2)
c.169+1349_169+1352dup (n.169+1349_169+1352dup)
c.*124+1148_*124+1151dup (n.*124+1148_*124+1151dup)
c.*3415_*3418dup (n.*3415_*3418dup)
n.3064_3067dup
c.3162_3165dup (p.Lys1056AspfsTer2)
c.969_972dup (p.Lys325AspfsTer2)
c.3885_3888dup (p.Lys1297AspfsTer2)
c.4161_4164dup (p.Lys1389AspfsTer2)
c.3978_3981dup (p.Lys1328AspfsTer2)
c.3864_3867dup (p.Lys1290AspfsTer2)
c.3255_3258dup (p.Lys1087AspfsTer2)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.47806845_47806848delCA915943993FBXO11,MSH6c.3771_3774del (p.Ile1258ArgfsTer13)
c.3684_3687del (p.Ile1229ArgfsTer13)
n.4742_4745del
c.2502_2505del (p.Ile835ArgfsTer13)
c.4074_4077del (p.Ile1359ArgfsTer13)
c.1523_1526del (n.1523_1526del)
c.2841_2844del (p.Ile948ArgfsTer13)
n.3046_3049del
n.2663_2666del
n.2330_2333del
n.2732_2735del
n.1477_1480del
n.3362_3365del
n.3902_3905del
n.4164_4167del
c.4068_4071del (p.Ile1357ArgfsTer13)
c.3678_3681del (p.Ile1227ArgfsTer13)
c.169+1349_169+1352del (n.169+1349_169+1352del)
c.*124+1148_*124+1151del (n.*124+1148_*124+1151del)
c.*3415_*3418del (n.*3415_*3418del)
n.3064_3067del
c.3162_3165del (p.Ile1055ArgfsTer13)
c.969_972del (p.Ile324ArgfsTer13)
c.3885_3888del (p.Ile1296ArgfsTer13)
c.4161_4164del (p.Ile1388ArgfsTer13)
c.3978_3981del (p.Ile1327ArgfsTer13)
c.3864_3867del (p.Ile1289ArgfsTer13)
c.3255_3258del (p.Ile1086ArgfsTer13)
ClinVar dbSNP
2g.47806843_47806862delinsTTGATTAAGGAATTATAGACCA2496054592FBXO11,MSH6c.3769_*2delinsTTGATTAAGGAATTATAGAC (n.[c.3769_*2delinsTTGATTAAGGAATTATAGAC;Leu1257=])
c.3682_*2delinsTTGATTAAGGAATTATAGAC (n.[c.3682_*2delinsTTGATTAAGGAATTATAGAC;Leu1228=])
n.4740_4759delinsTTGATTAAGGAATTATAGAC
c.2500_*2delinsTTGATTAAGGAATTATAGAC (n.[c.2500_*2delinsTTGATTAAGGAATTATAGAC;Leu834=])
c.4072_*2delinsTTGATTAAGGAATTATAGAC (n.[c.4072_*2delinsTTGATTAAGGAATTATAGAC;Leu1358=])
c.1521_1540delinsTTGATTAAGGAATTATAGAC (n.1521_1540delinsTTGATTAAGGAATTATAGAC)
c.2839_2858delinsTTGATTAAGGAATTATAGAC (n.[c.2839_2858delinsTTGATTAAGGAATTATAGAC;Leu947=])
n.3044_3063delinsTTGATTAAGGAATTATAGAC
n.2661_2680delinsTTGATTAAGGAATTATAGAC
n.2328_2347delinsTTGATTAAGGAATTATAGAC
n.2730_2749delinsTTGATTAAGGAATTATAGAC
n.1475_1494delinsTTGATTAAGGAATTATAGAC
n.3360_3379delinsTTGATTAAGGAATTATAGAC
n.3886_3905delinsGTCTATAATTCCTTAATCAA
n.4148_4167delinsGTCTATAATTCCTTAATCAA
c.4066_*2delinsTTGATTAAGGAATTATAGAC (n.[c.4066_*2delinsTTGATTAAGGAATTATAGAC;Leu1356=])
c.3676_*2delinsTTGATTAAGGAATTATAGAC (n.[c.3676_*2delinsTTGATTAAGGAATTATAGAC;Leu1226=])
c.169+1333_169+1352delinsGTCTATAATTCCTTAATCAA (n.169+1333_169+1352delinsGTCTATAATTCCTTAATCAA)
c.*124+1132_*124+1151delinsGTCTATAATTCCTTAATCAA (n.*124+1132_*124+1151delinsGTCTATAATTCCTTAATCAA)
c.*3413_*3432delinsTTGATTAAGGAATTATAGAC (n.*3413_*3432delinsTTGATTAAGGAATTATAGAC)
n.3048_3067delinsGTCTATAATTCCTTAATCAA
c.3160_*2delinsTTGATTAAGGAATTATAGAC (n.[c.3160_*2delinsTTGATTAAGGAATTATAGAC;Leu1054=])
c.967_*2delinsTTGATTAAGGAATTATAGAC (n.[c.967_*2delinsTTGATTAAGGAATTATAGAC;Leu323=])
c.3883_*2delinsTTGATTAAGGAATTATAGAC (n.[c.3883_*2delinsTTGATTAAGGAATTATAGAC;Leu1295=])
c.4159_*2delinsTTGATTAAGGAATTATAGAC (n.[c.4159_*2delinsTTGATTAAGGAATTATAGAC;Leu1387=])
c.3976_*2delinsTTGATTAAGGAATTATAGAC (n.[c.3976_*2delinsTTGATTAAGGAATTATAGAC;Leu1326=])
c.3862_*2delinsTTGATTAAGGAATTATAGAC (n.[c.3862_*2delinsTTGATTAAGGAATTATAGAC;Leu1288=])
c.3253_*2delinsTTGATTAAGGAATTATAGAC (n.[c.3253_*2delinsTTGATTAAGGAATTATAGAC;Leu1085=])
2g.47806843_47806844insAACA769469018FBXO11,MSH6c.3769_3770insAA (p.Leu1257Ter)
c.3682_3683insAA (p.Leu1228Ter)
n.4740_4741insAA
c.2500_2501insAA (p.Leu834Ter)
c.4072_4073insAA (p.Leu1358Ter)
c.1521_1522insAA (n.1521_1522insAA)
c.2839_2840insAA (p.Leu947Ter)
n.3044_3045insAA
n.2661_2662insAA
n.2328_2329insAA
n.2730_2731insAA
n.1475_1476insAA
n.3360_3361insAA
n.3904_3905insTT
n.4166_4167insTT
c.4066_4067insAA (p.Leu1356Ter)
c.3676_3677insAA (p.Leu1226Ter)
c.169+1351_169+1352insTT (n.169+1351_169+1352insTT)
c.*124+1150_*124+1151insTT (n.*124+1150_*124+1151insTT)
c.*3413_*3414insAA (n.*3413_*3414insAA)
n.3066_3067insTT
c.3160_3161insAA (p.Leu1054Ter)
c.967_968insAA (p.Leu323Ter)
c.3883_3884insAA (p.Leu1295Ter)
c.4159_4160insAA (p.Leu1387Ter)
c.3976_3977insAA (p.Leu1326Ter)
c.3862_3863insAA (p.Leu1288Ter)
c.3253_3254insAA (p.Leu1085Ter)
dbSNP
2g.47806844T>ACA346761748FBXO11,MSH6c.3770T>A (p.Leu1257Ter)
c.3683T>A (p.Leu1228Ter)
n.4741T>A
c.2501T>A (p.Leu834Ter)
c.4073T>A (p.Leu1358Ter)
c.1522T>A (n.1522T>A)
c.2840T>A (p.Leu947Ter)
n.3045T>A
n.2662T>A
n.2329T>A
n.2731T>A
n.1476T>A
n.3361T>A
n.3904A>T
n.4166A>T
c.4067T>A (p.Leu1356Ter)
c.3677T>A (p.Leu1226Ter)
c.169+1351A>T (n.169+1351A>T)
c.*124+1150A>T (n.*124+1150A>T)
c.*3414T>A (n.*3414T>A)
n.3066A>T
c.3161T>A (p.Leu1054Ter)
c.968T>A (p.Leu323Ter)
c.3884T>A (p.Leu1295Ter)
c.4160T>A (p.Leu1387Ter)
c.3977T>A (p.Leu1326Ter)
c.3863T>A (p.Leu1288Ter)
c.3254T>A (p.Leu1085Ter)
dbSNP
2g.47806844T>CCA346761747FBXO11,MSH6c.3770T>C (p.Leu1257Ser)
c.3683T>C (p.Leu1228Ser)
n.4741T>C
c.2501T>C (p.Leu834Ser)
c.4073T>C (p.Leu1358Ser)
c.1522T>C (n.1522T>C)
c.2840T>C (p.Leu947Ser)
n.3045T>C
n.2662T>C
n.2329T>C
n.2731T>C
n.1476T>C
n.3361T>C
n.3904A>G
n.4166A>G
c.4067T>C (p.Leu1356Ser)
c.3677T>C (p.Leu1226Ser)
c.169+1351A>G (n.169+1351A>G)
c.*124+1150A>G (n.*124+1150A>G)
c.*3414T>C (n.*3414T>C)
n.3066A>G
c.3161T>C (p.Leu1054Ser)
c.968T>C (p.Leu323Ser)
c.3884T>C (p.Leu1295Ser)
c.4160T>C (p.Leu1387Ser)
c.3977T>C (p.Leu1326Ser)
c.3863T>C (p.Leu1288Ser)
c.3254T>C (p.Leu1085Ser)
dbSNP gnomAD v2 gnomAD v4
2g.47806844T>GCA346761746FBXO11,MSH6c.3770T>G (p.Leu1257Trp)
c.3683T>G (p.Leu1228Trp)
n.4741T>G
c.2501T>G (p.Leu834Trp)
c.4073T>G (p.Leu1358Trp)
c.1522T>G (n.1522T>G)
c.2840T>G (p.Leu947Trp)
n.3045T>G
n.2662T>G
n.2329T>G
n.2731T>G
n.1476T>G
n.3361T>G
n.3904A>C
n.4166A>C
c.4067T>G (p.Leu1356Trp)
c.3677T>G (p.Leu1226Trp)
c.169+1351A>C (n.169+1351A>C)
c.*124+1150A>C (n.*124+1150A>C)
c.*3414T>G (n.*3414T>G)
n.3066A>C
c.3161T>G (p.Leu1054Trp)
c.968T>G (p.Leu323Trp)
c.3884T>G (p.Leu1295Trp)
c.4160T>G (p.Leu1387Trp)
c.3977T>G (p.Leu1326Trp)
c.3863T>G (p.Leu1288Trp)
c.3254T>G (p.Leu1085Trp)
2g.47806844T=CA2496054593FBXO11,MSH6c.3770T= (p.Leu1257=)
c.3683T= (p.Leu1228=)
n.4741T=
c.2501T= (p.Leu834=)
c.4073T= (p.Leu1358=)
c.1522T= (n.1522T=)
c.2840T= (p.Leu947=)
n.3045T=
n.2662T=
n.2329T=
n.2731T=
n.1476T=
n.3361T=
n.3904A=
n.4166A=
c.4067T= (p.Leu1356=)
c.3677T= (p.Leu1226=)
c.169+1351A= (n.169+1351A=)
c.*124+1150A= (n.*124+1150A=)
c.*3414T= (n.*3414T=)
n.3066A=
c.3161T= (p.Leu1054=)
c.968T= (p.Leu323=)
c.3884T= (p.Leu1295=)
c.4160T= (p.Leu1387=)
c.3977T= (p.Leu1326=)
c.3863T= (p.Leu1288=)
c.3254T= (p.Leu1085=)
2g.47806844_47806845delCA1030298121FBXO11,MSH6c.3770_3771del (p.Leu1257TyrfsTer2)
c.3683_3684del (p.Leu1228TyrfsTer2)
n.4741_4742del
c.2501_2502del (p.Leu834TyrfsTer2)
c.4073_4074del (p.Leu1358TyrfsTer2)
c.1522_1523del (n.1522_1523del)
c.2840_2841del (p.Leu947TyrfsTer2)
n.3045_3046del
n.2662_2663del
n.2329_2330del
n.2731_2732del
n.1476_1477del
n.3361_3362del
n.3903_3904del
n.4165_4166del
c.4067_4068del (p.Leu1356TyrfsTer2)
c.3677_3678del (p.Leu1226TyrfsTer2)
c.169+1350_169+1351del (n.169+1350_169+1351del)
c.*124+1149_*124+1150del (n.*124+1149_*124+1150del)
c.*3414_*3415del (n.*3414_*3415del)
n.3065_3066del
c.3161_3162del (p.Leu1054TyrfsTer2)
c.968_969del (p.Leu323TyrfsTer2)
c.3884_3885del (p.Leu1295TyrfsTer2)
c.4160_4161del (p.Leu1387TyrfsTer2)
c.3977_3978del (p.Leu1326TyrfsTer2)
c.3863_3864del (p.Leu1288TyrfsTer2)
c.3254_3255del (p.Leu1085TyrfsTer2)
dbSNP gnomAD v3 gnomAD v4
2g.47806844_47806848delinsAATCACA16617727FBXO11,MSH6c.3770_3774delinsAATCA (p.Leu1257Ter)
c.3683_3687delinsAATCA (p.Leu1228Ter)
n.4741_4745delinsAATCA
c.2501_2505delinsAATCA (p.Leu834Ter)
c.4073_4077delinsAATCA (p.Leu1358Ter)
c.1522_1526delinsAATCA (n.1522_1526delinsAATCA)
c.2840_2844delinsAATCA (p.Leu947Ter)
n.3045_3049delinsAATCA
n.2662_2666delinsAATCA
n.2329_2333delinsAATCA
n.2731_2735delinsAATCA
n.1476_1480delinsAATCA
n.3361_3365delinsAATCA
n.3900_3904delinsTGATT
n.4162_4166delinsTGATT
c.4067_4071delinsAATCA (p.Leu1356Ter)
c.3677_3681delinsAATCA (p.Leu1226Ter)
c.169+1347_169+1351delinsTGATT (n.169+1347_169+1351delinsTGATT)
c.*124+1146_*124+1150delinsTGATT (n.*124+1146_*124+1150delinsTGATT)
c.*3414_*3418delinsAATCA (n.*3414_*3418delinsAATCA)
n.3062_3066delinsTGATT
c.3161_3165delinsAATCA (p.Leu1054Ter)
c.968_972delinsAATCA (p.Leu323Ter)
c.3884_3888delinsAATCA (p.Leu1295Ter)
c.4160_4164delinsAATCA (p.Leu1387Ter)
c.3977_3981delinsAATCA (p.Leu1326Ter)
c.3863_3867delinsAATCA (p.Leu1288Ter)
c.3254_3258delinsAATCA (p.Leu1085Ter)
ClinVar
2g.47806847_47806865delCA915943994FBXO11,MSH6c.3773_*5del (n.[c.3773_*5del;Ile1258ThrfsTer8])
c.3686_*5del (n.[c.3686_*5del;Ile1229ThrfsTer8])
n.4744_4762del
c.2504_*5del (n.[c.2504_*5del;Ile835ThrfsTer8])
c.4076_*5del (n.[c.4076_*5del;Ile1359ThrfsTer8])
c.1525_1543del (n.1525_1543del)
c.2843_2861del (n.[c.2843_2861del;Ile948ThrfsTer8])
n.3048_3066del
n.2665_2683del
n.2332_2350del
n.2734_2752del
n.1479_1497del
n.3364_3382del
n.3886_3904del
n.4148_4166del
c.4070_*5del (n.[c.4070_*5del;Ile1357ThrfsTer8])
c.3680_*5del (n.[c.3680_*5del;Ile1227ThrfsTer8])
c.169+1333_169+1351del (n.169+1333_169+1351del)
c.*124+1132_*124+1150del (n.*124+1132_*124+1150del)
c.*3417_*3435del (n.*3417_*3435del)
c.3164_*5del (n.[c.3164_*5del;Ile1055ThrfsTer8])
c.971_*5del (n.[c.971_*5del;Ile324ThrfsTer8])
c.3887_*5del (n.[c.3887_*5del;Ile1296ThrfsTer8])
c.4163_*5del (n.[c.4163_*5del;Ile1388ThrfsTer8])
c.3980_*5del (n.[c.3980_*5del;Ile1327ThrfsTer8])
c.3866_*5del (n.[c.3866_*5del;Ile1289ThrfsTer8])
c.3257_*5del (n.[c.3257_*5del;Ile1086ThrfsTer8])
ClinVar dbSNP gnomAD v4
2g.47806844_47806887dupCA2573134814FBXO11,MSH6c.3770_*27dup (n.3770_*27dup)
c.3683_*27dup (n.3683_*27dup)
n.4741_4784dup
c.2501_*27dup (n.2501_*27dup)
c.4073_*27dup (n.4073_*27dup)
c.1522_1565dup (n.1522_1565dup)
c.2840_2883dup (n.2840_2883dup)
n.2662_2705dup
n.2329_2372dup
n.2731_2774dup
n.1476_1519dup
n.3361_3404dup
n.3861_3904dup
n.4123_4166dup
c.4067_*27dup (n.4067_*27dup)
c.3677_*27dup (n.3677_*27dup)
c.169+1308_169+1351dup (n.169+1308_169+1351dup)
c.*124+1107_*124+1150dup (n.*124+1107_*124+1150dup)
c.*3414_*3457dup (n.*3414_*3457dup)
n.3023_3066dup
c.3161_*27dup (n.3161_*27dup)
c.968_*27dup (n.968_*27dup)
c.3884_*27dup (n.3884_*27dup)
c.4160_*27dup (n.4160_*27dup)
c.3977_*27dup (n.3977_*27dup)
c.3863_*27dup (n.3863_*27dup)
c.3254_*27dup (n.3254_*27dup)
ClinVar dbSNP gnomAD v4
2g.47806845G>ACA015408FBXO11,MSH6c.3771G>A (p.Leu1257=)
c.3684G>A (p.Leu1228=)
n.4742G>A
c.2502G>A (p.Leu834=)
c.4074G>A (p.Leu1358=)
c.1523G>A (n.1523G>A)
c.2841G>A (p.Leu947=)
n.3046G>A
n.2663G>A
n.2330G>A
n.2732G>A
n.1477G>A
n.3362G>A
n.3903C>T
n.4165C>T
c.4068G>A (p.Leu1356=)
c.3678G>A (p.Leu1226=)
c.169+1350C>T (n.169+1350C>T)
c.*124+1149C>T (n.*124+1149C>T)
c.*3415G>A (n.*3415G>A)
n.3065C>T
c.3162G>A (p.Leu1054=)
c.969G>A (p.Leu323=)
c.3885G>A (p.Leu1295=)
c.4161G>A (p.Leu1387=)
c.3978G>A (p.Leu1326=)
c.3864G>A (p.Leu1288=)
c.3255G>A (p.Leu1085=)
ClinVar dbSNP gnomAD v4
2g.47806845G>CCA015417FBXO11,MSH6c.3771G>C (p.Leu1257Phe)
c.3684G>C (p.Leu1228Phe)
n.4742G>C
c.2502G>C (p.Leu834Phe)
c.4074G>C (p.Leu1358Phe)
c.1523G>C (n.1523G>C)
c.2841G>C (p.Leu947Phe)
n.3046G>C
n.2663G>C
n.2330G>C
n.2732G>C
n.1477G>C
n.3362G>C
n.3903C>G
n.4165C>G
c.4068G>C (p.Leu1356Phe)
c.3678G>C (p.Leu1226Phe)
c.169+1350C>G (n.169+1350C>G)
c.*124+1149C>G (n.*124+1149C>G)
c.*3415G>C (n.*3415G>C)
n.3065C>G
c.3162G>C (p.Leu1054Phe)
c.969G>C (p.Leu323Phe)
c.3885G>C (p.Leu1295Phe)
c.4161G>C (p.Leu1387Phe)
c.3978G>C (p.Leu1326Phe)
c.3864G>C (p.Leu1288Phe)
c.3255G>C (p.Leu1085Phe)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.47806845G=CA2496054594FBXO11,MSH6c.3771G= (p.Leu1257=)
c.3684G= (p.Leu1228=)
n.4742G=
c.2502G= (p.Leu834=)
c.4074G= (p.Leu1358=)
c.1523G= (n.1523G=)
c.2841G= (p.Leu947=)
n.3046G=
n.2663G=
n.2330G=
n.2732G=
n.1477G=
n.3362G=
n.3903C=
n.4165C=
c.4068G= (p.Leu1356=)
c.3678G= (p.Leu1226=)
c.169+1350C= (n.169+1350C=)
c.*124+1149C= (n.*124+1149C=)
c.*3415G= (n.*3415G=)
n.3065C=
c.3162G= (p.Leu1054=)
c.969G= (p.Leu323=)
c.3885G= (p.Leu1295=)
c.4161G= (p.Leu1387=)
c.3978G= (p.Leu1326=)
c.3864G= (p.Leu1288=)
c.3255G= (p.Leu1085=)
2g.47806845G>TCA346761749FBXO11,MSH6c.3771G>T (p.Leu1257Phe)
c.3684G>T (p.Leu1228Phe)
n.4742G>T
c.2502G>T (p.Leu834Phe)
c.4074G>T (p.Leu1358Phe)
c.1523G>T (n.1523G>T)
c.2841G>T (p.Leu947Phe)
n.3046G>T
n.2663G>T
n.2330G>T
n.2732G>T
n.1477G>T
n.3362G>T
n.3903C>A
n.4165C>A
c.4068G>T (p.Leu1356Phe)
c.3678G>T (p.Leu1226Phe)
c.169+1350C>A (n.169+1350C>A)
c.*124+1149C>A (n.*124+1149C>A)
c.*3415G>T (n.*3415G>T)
n.3065C>A
c.3162G>T (p.Leu1054Phe)
c.969G>T (p.Leu323Phe)
c.3885G>T (p.Leu1295Phe)
c.4161G>T (p.Leu1387Phe)
c.3978G>T (p.Leu1326Phe)
c.3864G>T (p.Leu1288Phe)
c.3255G>T (p.Leu1085Phe)
gnomAD v4
2g.47806845dupCA2499216157FBXO11,MSH6c.3771dup (p.Ile1258AspfsTer2)
c.3684dup (p.Ile1229AspfsTer2)
n.4742dup
c.2502dup (p.Ile835AspfsTer2)
c.4074dup (p.Ile1359AspfsTer2)
c.1523dup (n.1523dup)
c.2841dup (p.Ile948AspfsTer2)
n.3046dup
n.2663dup
n.2330dup
n.2732dup
n.1477dup
n.3362dup
n.3903dup
n.4165dup
c.4068dup (p.Ile1357AspfsTer2)
c.3678dup (p.Ile1227AspfsTer2)
c.169+1350dup (n.169+1350dup)
c.*124+1149dup (n.*124+1149dup)
c.*3415dup (n.*3415dup)
n.3065dup
c.3162dup (p.Ile1055AspfsTer2)
c.969dup (p.Ile324AspfsTer2)
c.3885dup (p.Ile1296AspfsTer2)
c.4161dup (p.Ile1388AspfsTer2)
c.3978dup (p.Ile1327AspfsTer2)
c.3864dup (p.Ile1289AspfsTer2)
c.3255dup (p.Ile1086AspfsTer2)
ClinVar dbSNP
2g.47806845_47806849dupCA2580067603FBXO11,MSH6c.3771_3775dup (p.Lys1259ArgfsTer15)
c.3684_3688dup (p.Lys1230ArgfsTer15)
n.4742_4746dup
c.2502_2506dup (p.Lys836ArgfsTer15)
c.4074_4078dup (p.Lys1360ArgfsTer15)
c.1523_1527dup (n.1523_1527dup)
c.2841_2845dup (p.Lys949ArgfsTer15)
n.3046_3050dup
n.2663_2667dup
n.2330_2334dup
n.2732_2736dup
n.1477_1481dup
n.3362_3366dup
n.3899_3903dup
n.4161_4165dup
c.4068_4072dup (p.Lys1358ArgfsTer15)
c.3678_3682dup (p.Lys1228ArgfsTer15)
c.169+1346_169+1350dup (n.169+1346_169+1350dup)
c.*124+1145_*124+1149dup (n.*124+1145_*124+1149dup)
c.*3415_*3419dup (n.*3415_*3419dup)
n.3061_3065dup
c.3162_3166dup (p.Lys1056ArgfsTer15)
c.969_973dup (p.Lys325ArgfsTer15)
c.3885_3889dup (p.Lys1297ArgfsTer15)
c.4161_4165dup (p.Lys1389ArgfsTer15)
c.3978_3982dup (p.Lys1328ArgfsTer15)
c.3864_3868dup (p.Lys1290ArgfsTer15)
c.3255_3259dup (p.Lys1087ArgfsTer15)
ClinVar
2g.47806845_47806861dupCA658655789FBXO11,MSH6c.3771_*1dup (n.3771_*1dup)
c.3684_*1dup (n.3684_*1dup)
n.4742_4758dup
c.2502_*1dup (n.2502_*1dup)
c.4074_*1dup (n.4074_*1dup)
c.1523_1539dup (n.1523_1539dup)
c.2841_2857dup (n.2841_2857dup)
n.3046_3062dup
n.2663_2679dup
n.2330_2346dup
n.2732_2748dup
n.1477_1493dup
n.3362_3378dup
n.3887_3903dup
n.4149_4165dup
c.4068_*1dup (n.4068_*1dup)
c.3678_*1dup (n.3678_*1dup)
c.169+1334_169+1350dup (n.169+1334_169+1350dup)
c.*124+1133_*124+1149dup (n.*124+1133_*124+1149dup)
c.*3415_*3431dup (n.*3415_*3431dup)
n.3049_3065dup
c.3162_*1dup (n.3162_*1dup)
c.969_*1dup (n.969_*1dup)
c.3885_*1dup (n.3885_*1dup)
c.4161_*1dup (n.4161_*1dup)
c.3978_*1dup (n.3978_*1dup)
c.3864_*1dup (n.3864_*1dup)
c.3255_*1dup (n.3255_*1dup)
ClinVar dbSNP gnomAD v4
2g.47806845_47806869delinsGATTAAGGAATTATAGACTGACTACCA2496054595FBXO11,MSH6c.3771_*9delinsGATTAAGGAATTATAGACTGACTAC (n.[c.3771_*9delinsGATTAAGGAATTATAGACTGACTAC;Leu1257=])
c.3684_*9delinsGATTAAGGAATTATAGACTGACTAC (n.[c.3684_*9delinsGATTAAGGAATTATAGACTGACTAC;Leu1228=])
n.4742_4766delinsGATTAAGGAATTATAGACTGACTAC
c.2502_*9delinsGATTAAGGAATTATAGACTGACTAC (n.[c.2502_*9delinsGATTAAGGAATTATAGACTGACTAC;Leu834=])
c.4074_*9delinsGATTAAGGAATTATAGACTGACTAC (n.[c.4074_*9delinsGATTAAGGAATTATAGACTGACTAC;Leu1358=])
c.1523_1547delinsGATTAAGGAATTATAGACTGACTAC (n.1523_1547delinsGATTAAGGAATTATAGACTGACTAC)
c.2841_2865delinsGATTAAGGAATTATAGACTGACTAC (n.[c.2841_2865delinsGATTAAGGAATTATAGACTGACTAC;Leu947=])
n.2663_2687delinsGATTAAGGAATTATAGACTGACTAC
n.2330_2354delinsGATTAAGGAATTATAGACTGACTAC
n.2732_2756delinsGATTAAGGAATTATAGACTGACTAC
n.1477_1501delinsGATTAAGGAATTATAGACTGACTAC
n.3362_3386delinsGATTAAGGAATTATAGACTGACTAC
n.3879_3903delinsGTAGTCAGTCTATAATTCCTTAATC
n.4141_4165delinsGTAGTCAGTCTATAATTCCTTAATC
c.4068_*9delinsGATTAAGGAATTATAGACTGACTAC (n.[c.4068_*9delinsGATTAAGGAATTATAGACTGACTAC;Leu1356=])
c.3678_*9delinsGATTAAGGAATTATAGACTGACTAC (n.[c.3678_*9delinsGATTAAGGAATTATAGACTGACTAC;Leu1226=])
c.169+1326_169+1350delinsGTAGTCAGTCTATAATTCCTTAATC (n.169+1326_169+1350delinsGTAGTCAGTCTATAATTCCTTAATC)
c.*124+1125_*124+1149delinsGTAGTCAGTCTATAATTCCTTAATC (n.*124+1125_*124+1149delinsGTAGTCAGTCTATAATTCCTTAATC)
c.*3415_*3439delinsGATTAAGGAATTATAGACTGACTAC (n.*3415_*3439delinsGATTAAGGAATTATAGACTGACTAC)
n.3041_3065delinsGTAGTCAGTCTATAATTCCTTAATC
c.3162_*9delinsGATTAAGGAATTATAGACTGACTAC (n.[c.3162_*9delinsGATTAAGGAATTATAGACTGACTAC;Leu1054=])
c.969_*9delinsGATTAAGGAATTATAGACTGACTAC (n.[c.969_*9delinsGATTAAGGAATTATAGACTGACTAC;Leu323=])
c.3885_*9delinsGATTAAGGAATTATAGACTGACTAC (n.[c.3885_*9delinsGATTAAGGAATTATAGACTGACTAC;Leu1295=])
c.4161_*9delinsGATTAAGGAATTATAGACTGACTAC (n.[c.4161_*9delinsGATTAAGGAATTATAGACTGACTAC;Leu1387=])
c.3978_*9delinsGATTAAGGAATTATAGACTGACTAC (n.[c.3978_*9delinsGATTAAGGAATTATAGACTGACTAC;Leu1326=])
c.3864_*9delinsGATTAAGGAATTATAGACTGACTAC (n.[c.3864_*9delinsGATTAAGGAATTATAGACTGACTAC;Leu1288=])
c.3255_*9delinsGATTAAGGAATTATAGACTGACTAC (n.[c.3255_*9delinsGATTAAGGAATTATAGACTGACTAC;Leu1085=])
2g.47806845_47806875delinsGATTAAGGAATTATAGACTGACTACATTGGACA2496054596FBXO11,MSH6c.3771_*15delinsGATTAAGGAATTATAGACTGACTACATTGGA (n.[c.3771_*15delinsGATTAAGGAATTATAGACTGACTACATTGGA;Leu1257=])
c.3684_*15delinsGATTAAGGAATTATAGACTGACTACATTGGA (n.[c.3684_*15delinsGATTAAGGAATTATAGACTGACTACATTGGA;Leu1228=])
n.4742_4772delinsGATTAAGGAATTATAGACTGACTACATTGGA
c.2502_*15delinsGATTAAGGAATTATAGACTGACTACATTGGA (n.[c.2502_*15delinsGATTAAGGAATTATAGACTGACTACATTGGA;Leu834=])
c.4074_*15delinsGATTAAGGAATTATAGACTGACTACATTGGA (n.[c.4074_*15delinsGATTAAGGAATTATAGACTGACTACATTGGA;Leu1358=])
c.1523_1553delinsGATTAAGGAATTATAGACTGACTACATTGGA (n.1523_1553delinsGATTAAGGAATTATAGACTGACTACATTGGA)
c.2841_2871delinsGATTAAGGAATTATAGACTGACTACATTGGA (n.[c.2841_2871delinsGATTAAGGAATTATAGACTGACTACATTGGA;Leu947=])
n.2663_2693delinsGATTAAGGAATTATAGACTGACTACATTGGA
n.2330_2360delinsGATTAAGGAATTATAGACTGACTACATTGGA
n.2732_2762delinsGATTAAGGAATTATAGACTGACTACATTGGA
n.1477_1507delinsGATTAAGGAATTATAGACTGACTACATTGGA
n.3362_3392delinsGATTAAGGAATTATAGACTGACTACATTGGA
n.3873_3903delinsTCCAATGTAGTCAGTCTATAATTCCTTAATC
n.4135_4165delinsTCCAATGTAGTCAGTCTATAATTCCTTAATC
c.4068_*15delinsGATTAAGGAATTATAGACTGACTACATTGGA (n.[c.4068_*15delinsGATTAAGGAATTATAGACTGACTACATTGGA;Leu1356=])
c.3678_*15delinsGATTAAGGAATTATAGACTGACTACATTGGA (n.[c.3678_*15delinsGATTAAGGAATTATAGACTGACTACATTGGA;Leu1226=])
c.169+1320_169+1350delinsTCCAATGTAGTCAGTCTATAATTCCTTAATC (n.169+1320_169+1350delinsTCCAATGTAGTCAGTCTATAATTCCTTAATC)
c.*124+1119_*124+1149delinsTCCAATGTAGTCAGTCTATAATTCCTTAATC (n.*124+1119_*124+1149delinsTCCAATGTAGTCAGTCTATAATTCCTTAATC)
c.*3415_*3445delinsGATTAAGGAATTATAGACTGACTACATTGGA (n.*3415_*3445delinsGATTAAGGAATTATAGACTGACTACATTGGA)
n.3035_3065delinsTCCAATGTAGTCAGTCTATAATTCCTTAATC
c.3162_*15delinsGATTAAGGAATTATAGACTGACTACATTGGA (n.[c.3162_*15delinsGATTAAGGAATTATAGACTGACTACATTGGA;Leu1054=])
c.969_*15delinsGATTAAGGAATTATAGACTGACTACATTGGA (n.[c.969_*15delinsGATTAAGGAATTATAGACTGACTACATTGGA;Leu323=])
c.3885_*15delinsGATTAAGGAATTATAGACTGACTACATTGGA (n.[c.3885_*15delinsGATTAAGGAATTATAGACTGACTACATTGGA;Leu1295=])
c.4161_*15delinsGATTAAGGAATTATAGACTGACTACATTGGA (n.[c.4161_*15delinsGATTAAGGAATTATAGACTGACTACATTGGA;Leu1387=])
c.3978_*15delinsGATTAAGGAATTATAGACTGACTACATTGGA (n.[c.3978_*15delinsGATTAAGGAATTATAGACTGACTACATTGGA;Leu1326=])
c.3864_*15delinsGATTAAGGAATTATAGACTGACTACATTGGA (n.[c.3864_*15delinsGATTAAGGAATTATAGACTGACTACATTGGA;Leu1288=])
c.3255_*15delinsGATTAAGGAATTATAGACTGACTACATTGGA (n.[c.3255_*15delinsGATTAAGGAATTATAGACTGACTACATTGGA;Leu1085=])
2g.47806845_47806882dupCA532705591FBXO11,MSH6c.3771_*22dup (n.3771_*22dup)
c.3684_*22dup (n.3684_*22dup)
n.4742_4779dup
c.2502_*22dup (n.2502_*22dup)
c.4074_*22dup (n.4074_*22dup)
c.1523_1560dup (n.1523_1560dup)
c.2841_2878dup (n.2841_2878dup)
n.2663_2700dup
n.2330_2367dup
n.2732_2769dup
n.1477_1514dup
n.3362_3399dup
n.3866_3903dup
n.4128_4165dup
c.4068_*22dup (n.4068_*22dup)
c.3678_*22dup (n.3678_*22dup)
c.169+1313_169+1350dup (n.169+1313_169+1350dup)
c.*124+1112_*124+1149dup (n.*124+1112_*124+1149dup)
c.*3415_*3452dup (n.*3415_*3452dup)
n.3028_3065dup
c.3162_*22dup (n.3162_*22dup)
c.969_*22dup (n.969_*22dup)
c.3885_*22dup (n.3885_*22dup)
c.4161_*22dup (n.4161_*22dup)
c.3978_*22dup (n.3978_*22dup)
c.3864_*22dup (n.3864_*22dup)
c.3255_*22dup (n.3255_*22dup)
ClinVar dbSNP gnomAD v2
2g.47806846_47806900dupCA2573134815FBXO11,MSH6c.3772_*40dup (n.3772_*40dup)
c.3685_*40dup (n.3685_*40dup)
n.4743_4797dup
c.2503_*40dup (n.2503_*40dup)
c.4075_*40dup (n.4075_*40dup)
c.1524_1578dup (n.1524_1578dup)
c.2842_2896dup (n.2842_2896dup)
n.2664_2718dup
n.2331_2385dup
n.2733_2787dup
n.1478_1532dup
n.3363_3417dup
n.3849_3903dup
n.4111_4165dup
c.4069_*40dup (n.4069_*40dup)
c.3679_*40dup (n.3679_*40dup)
c.169+1296_169+1350dup (n.169+1296_169+1350dup)
c.*124+1095_*124+1149dup (n.*124+1095_*124+1149dup)
c.*3416_*3470dup (n.*3416_*3470dup)
n.3011_3065dup
c.3163_*40dup (n.3163_*40dup)
c.970_*40dup (n.970_*40dup)
c.3886_*40dup (n.3886_*40dup)
c.4162_*40dup (n.4162_*40dup)
c.3979_*40dup (n.3979_*40dup)
c.3865_*40dup (n.3865_*40dup)
c.3256_*40dup (n.3256_*40dup)
ClinVar dbSNP
2g.47806845_47806846insGATTCA015396FBXO11,MSH6c.3771_3772insGATT (p.Ile1258AspfsTer3)
c.3684_3685insGATT (p.Ile1229AspfsTer3)
n.4742_4743insGATT
c.2502_2503insGATT (p.Ile835AspfsTer3)
c.4074_4075insGATT (p.Ile1359AspfsTer3)
c.1523_1524insGATT (n.1523_1524insGATT)
c.2841_2842insGATT (p.Ile948AspfsTer3)
n.3046_3047insGATT
n.2663_2664insGATT
n.2330_2331insGATT
n.2732_2733insGATT
n.1477_1478insGATT
n.3362_3363insGATT
n.3902_3903insAATC
n.4164_4165insAATC
c.4068_4069insGATT (p.Ile1357AspfsTer3)
c.3678_3679insGATT (p.Ile1227AspfsTer3)
c.169+1349_169+1350insAATC (n.169+1349_169+1350insAATC)
c.*124+1148_*124+1149insAATC (n.*124+1148_*124+1149insAATC)
c.*3415_*3416insGATT (n.*3415_*3416insGATT)
n.3064_3065insAATC
c.3162_3163insGATT (p.Ile1055AspfsTer3)
c.969_970insGATT (p.Ile324AspfsTer3)
c.3885_3886insGATT (p.Ile1296AspfsTer3)
c.4161_4162insGATT (p.Ile1388AspfsTer3)
c.3978_3979insGATT (p.Ile1327AspfsTer3)
c.3864_3865insGATT (p.Ile1289AspfsTer3)
c.3255_3256insGATT (p.Ile1086AspfsTer3)
ClinVar dbSNP
2g.47806846A>CCA346761752FBXO11,MSH6c.3772A>C (p.Ile1258Leu)
c.3685A>C (p.Ile1229Leu)
n.4743A>C
c.2503A>C (p.Ile835Leu)
c.4075A>C (p.Ile1359Leu)
c.1524A>C (n.1524A>C)
c.2842A>C (p.Ile948Leu)
n.3047A>C
n.2664A>C
n.2331A>C
n.2733A>C
n.1478A>C
n.3363A>C
n.3902T>G
n.4164T>G
c.4069A>C (p.Ile1357Leu)
c.3679A>C (p.Ile1227Leu)
c.169+1349T>G (n.169+1349T>G)
c.*124+1148T>G (n.*124+1148T>G)
c.*3416A>C (n.*3416A>C)
n.3064T>G
c.3163A>C (p.Ile1055Leu)
c.970A>C (p.Ile324Leu)
c.3886A>C (p.Ile1296Leu)
c.4162A>C (p.Ile1388Leu)
c.3979A>C (p.Ile1327Leu)
c.3865A>C (p.Ile1289Leu)
c.3256A>C (p.Ile1086Leu)
ClinVar
2g.47806846A>GCA346761751FBXO11,MSH6c.3772A>G (p.Ile1258Val)
c.3685A>G (p.Ile1229Val)
n.4743A>G
c.2503A>G (p.Ile835Val)
c.4075A>G (p.Ile1359Val)
c.1524A>G (n.1524A>G)
c.2842A>G (p.Ile948Val)
n.3047A>G
n.2664A>G
n.2331A>G
n.2733A>G
n.1478A>G
n.3363A>G
n.3902T>C
n.4164T>C
c.4069A>G (p.Ile1357Val)
c.3679A>G (p.Ile1227Val)
c.169+1349T>C (n.169+1349T>C)
c.*124+1148T>C (n.*124+1148T>C)
c.*3416A>G (n.*3416A>G)
n.3064T>C
c.3163A>G (p.Ile1055Val)
c.970A>G (p.Ile324Val)
c.3886A>G (p.Ile1296Val)
c.4162A>G (p.Ile1388Val)
c.3979A>G (p.Ile1327Val)
c.3865A>G (p.Ile1289Val)
c.3256A>G (p.Ile1086Val)
ClinVar dbSNP
2g.47806846A>TCA346761750FBXO11,MSH6c.3772A>T (p.Ile1258Phe)
c.3685A>T (p.Ile1229Phe)
n.4743A>T
c.2503A>T (p.Ile835Phe)
c.4075A>T (p.Ile1359Phe)
c.1524A>T (n.1524A>T)
c.2842A>T (p.Ile948Phe)
n.3047A>T
n.2664A>T
n.2331A>T
n.2733A>T
n.1478A>T
n.3363A>T
n.3902T>A
n.4164T>A
c.4069A>T (p.Ile1357Phe)
c.3679A>T (p.Ile1227Phe)
c.169+1349T>A (n.169+1349T>A)
c.*124+1148T>A (n.*124+1148T>A)
c.*3416A>T (n.*3416A>T)
n.3064T>A
c.3163A>T (p.Ile1055Phe)
c.970A>T (p.Ile324Phe)
c.3886A>T (p.Ile1296Phe)
c.4162A>T (p.Ile1388Phe)
c.3979A>T (p.Ile1327Phe)
c.3865A>T (p.Ile1289Phe)
c.3256A>T (p.Ile1086Phe)
2g.47806846_47806847dupCA2580067604FBXO11,MSH6c.3772_3773dup (p.Lys1259LeufsTer14)
c.3685_3686dup (p.Lys1230LeufsTer14)
n.4743_4744dup
c.2503_2504dup (p.Lys836LeufsTer14)
c.4075_4076dup (p.Lys1360LeufsTer14)
c.1524_1525dup (n.1524_1525dup)
c.2842_2843dup (p.Lys949LeufsTer14)
n.3047_3048dup
n.2664_2665dup
n.2331_2332dup
n.2733_2734dup
n.1478_1479dup
n.3363_3364dup
n.3901_3902dup
n.4163_4164dup
c.4069_4070dup (p.Lys1358LeufsTer14)
c.3679_3680dup (p.Lys1228LeufsTer14)
c.169+1348_169+1349dup (n.169+1348_169+1349dup)
c.*124+1147_*124+1148dup (n.*124+1147_*124+1148dup)
c.*3416_*3417dup (n.*3416_*3417dup)
n.3063_3064dup
c.3163_3164dup (p.Lys1056LeufsTer14)
c.970_971dup (p.Lys325LeufsTer14)
c.3886_3887dup (p.Lys1297LeufsTer14)
c.4162_4163dup (p.Lys1389LeufsTer14)
c.3979_3980dup (p.Lys1328LeufsTer14)
c.3865_3866dup (p.Lys1290LeufsTer14)
c.3256_3257dup (p.Lys1087LeufsTer14)
ClinVar
2g.47806846_47806848delinsATTCA2496054597FBXO11,MSH6c.3772_3774delinsATT (p.Ile1258=)
c.3685_3687delinsATT (p.Ile1229=)
n.4743_4745delinsATT
c.2503_2505delinsATT (p.Ile835=)
c.4075_4077delinsATT (p.Ile1359=)
c.1524_1526delinsATT (n.1524_1526delinsATT)
c.2842_2844delinsATT (p.Ile948=)
n.3047_3049delinsATT
n.2664_2666delinsATT
n.2331_2333delinsATT
n.2733_2735delinsATT
n.1478_1480delinsATT
n.3363_3365delinsATT
n.3900_3902delinsAAT
n.4162_4164delinsAAT
c.4069_4071delinsATT (p.Ile1357=)
c.3679_3681delinsATT (p.Ile1227=)
c.169+1347_169+1349delinsAAT (n.169+1347_169+1349delinsAAT)
c.*124+1146_*124+1148delinsAAT (n.*124+1146_*124+1148delinsAAT)
c.*3416_*3418delinsATT (n.*3416_*3418delinsATT)
n.3062_3064delinsAAT
c.3163_3165delinsATT (p.Ile1055=)
c.970_972delinsATT (p.Ile324=)
c.3886_3888delinsATT (p.Ile1296=)
c.4162_4164delinsATT (p.Ile1388=)
c.3979_3981delinsATT (p.Ile1327=)
c.3865_3867delinsATT (p.Ile1289=)
c.3256_3258delinsATT (p.Ile1086=)
2g.47806850_47806857dupCA10577300FBXO11,MSH6c.3776_3783dup (p.Ter1262ArgextTer13)
c.3689_3696dup (p.Ter1233ArgextTer13)
n.4747_4754dup
c.2507_2514dup (p.Ter839ArgextTer13)
c.4079_4086dup (p.Ter1363ArgextTer13)
c.1528_1535dup (n.1528_1535dup)
c.2846_2853dup (p.Ter952ArgextTer13)
n.3051_3058dup
n.2668_2675dup
n.2335_2342dup
n.2737_2744dup
n.1482_1489dup
n.3367_3374dup
n.3895_3902dup
n.4157_4164dup
c.4073_4080dup (p.Ter1361ArgextTer13)
c.3683_3690dup (p.Ter1231ArgextTer13)
c.169+1342_169+1349dup (n.169+1342_169+1349dup)
c.*124+1141_*124+1148dup (n.*124+1141_*124+1148dup)
c.*3420_*3427dup (n.*3420_*3427dup)
n.3057_3064dup
c.3167_3174dup (p.Ter1059ArgextTer13)
c.974_981dup (p.Ter328ArgextTer13)
c.3890_3897dup (p.Ter1300ArgextTer13)
c.4166_4173dup (p.Ter1392ArgextTer13)
c.3983_3990dup (p.Ter1331ArgextTer13)
c.3869_3876dup (p.Ter1293ArgextTer13)
c.3260_3267dup (p.Ter1090ArgextTer13)
ClinVar dbSNP
2g.47806846_47806859dupCA2580067605FBXO11,MSH6c.3772_3785dup (p.Ter1262=)
c.3685_3698dup (p.Ter1233=)
n.4743_4756dup
c.2503_2516dup (p.Ter839=)
c.4075_4088dup (p.Ter1363=)
c.1524_1537dup (n.1524_1537dup)
c.2842_2855dup (p.Ter952=)
n.3047_3060dup
n.2664_2677dup
n.2331_2344dup
n.2733_2746dup
n.1478_1491dup
n.3363_3376dup
n.3889_3902dup
n.4151_4164dup
c.4069_4082dup (p.Ter1361=)
c.3679_3692dup (p.Ter1231=)
c.169+1336_169+1349dup (n.169+1336_169+1349dup)
c.*124+1135_*124+1148dup (n.*124+1135_*124+1148dup)
c.*3416_*3429dup (n.*3416_*3429dup)
n.3051_3064dup
c.3163_3176dup (p.Ter1059=)
c.970_983dup (p.Ter328=)
c.3886_3899dup (p.Ter1300=)
c.4162_4175dup (p.Ter1392=)
c.3979_3992dup (p.Ter1331=)
c.3865_3878dup (p.Ter1293=)
c.3256_3269dup (p.Ter1090=)
ClinVar
2g.47806849_47806872delCA658655790FBXO11,MSH6c.3775_*12del (n.[c.3775_*12del;Lys1259GlyfsTer25])
c.3688_*12del (n.[c.3688_*12del;Lys1230GlyfsTer?])
n.4746_4769del
c.2506_*12del (n.[c.2506_*12del;Lys836GlyfsTer?])
c.4078_*12del (n.[c.4078_*12del;Lys1360GlyfsTer?])
c.1527_1550del (n.1527_1550del)
c.2845_2868del (n.[c.2845_2868del;Lys949GlyfsTer?])
n.2667_2690del
n.2334_2357del
n.2736_2759del
n.1481_1504del
n.3366_3389del
n.3879_3902del
n.4141_4164del
c.4072_*12del (n.[c.4072_*12del;Lys1358GlyfsTer25])
c.3682_*12del (n.[c.3682_*12del;Lys1228GlyfsTer?])
c.3775_*12del (n.[c.3775_*12del;Lys1259GlyfsTer?])
c.169+1326_169+1349del (n.169+1326_169+1349del)
c.*124+1125_*124+1148del (n.*124+1125_*124+1148del)
c.*3419_*3442del (n.*3419_*3442del)
n.3041_3064del
c.3166_*12del (n.[c.3166_*12del;Lys1056GlyfsTer?])
c.973_*12del (n.[c.973_*12del;Lys325GlyfsTer25])
c.3682_*12del (n.[c.3682_*12del;Lys1228GlyfsTer25])
c.3166_*12del (n.[c.3166_*12del;Lys1056GlyfsTer25])
c.3889_*12del (n.[c.3889_*12del;Lys1297GlyfsTer25])
c.4165_*12del (n.[c.4165_*12del;Lys1389GlyfsTer25])
c.3982_*12del (n.[c.3982_*12del;Lys1328GlyfsTer25])
c.3868_*12del (n.[c.3868_*12del;Lys1290GlyfsTer25])
c.3259_*12del (n.[c.3259_*12del;Lys1087GlyfsTer25])
ClinVar dbSNP
2g.47806847_47806876delCA2496054598FBXO11,MSH6c.3773_*16del (n.[c.3773_*16del;Ile1258SerfsTer24])
c.3686_*16del (n.[c.3686_*16del;Ile1229SerfsTer?])
n.4744_4773del
c.2504_*16del (n.[c.2504_*16del;Ile835SerfsTer?])
c.4076_*16del (n.[c.4076_*16del;Ile1359SerfsTer?])
c.1525_1554del (n.1525_1554del)
c.2843_2872del (n.[c.2843_2872del;Ile948SerfsTer?])
n.2665_2694del
n.2332_2361del
n.2734_2763del
n.1479_1508del
n.3364_3393del
n.3873_3902del
n.4135_4164del
c.4070_*16del (n.[c.4070_*16del;Ile1357SerfsTer24])
c.3680_*16del (n.[c.3680_*16del;Ile1227SerfsTer?])
c.3773_*16del (n.[c.3773_*16del;Ile1258SerfsTer?])
c.169+1320_169+1349del (n.169+1320_169+1349del)
c.*124+1119_*124+1148del (n.*124+1119_*124+1148del)
c.*3417_*3446del (n.*3417_*3446del)
n.3035_3064del
c.3164_*16del (n.[c.3164_*16del;Ile1055SerfsTer?])
c.971_*16del (n.[c.971_*16del;Ile324SerfsTer24])
c.3680_*16del (n.[c.3680_*16del;Ile1227SerfsTer24])
c.3164_*16del (n.[c.3164_*16del;Ile1055SerfsTer24])
c.3887_*16del (n.[c.3887_*16del;Ile1296SerfsTer24])
c.4163_*16del (n.[c.4163_*16del;Ile1388SerfsTer24])
c.3980_*16del (n.[c.3980_*16del;Ile1327SerfsTer24])
c.3866_*16del (n.[c.3866_*16del;Ile1289SerfsTer24])
c.3257_*16del (n.[c.3257_*16del;Ile1086SerfsTer24])
ClinVar dbSNP
2g.47806847T>ACA346761753FBXO11,MSH6c.3773T>A (p.Ile1258Asn)
c.3686T>A (p.Ile1229Asn)
n.4744T>A
c.2504T>A (p.Ile835Asn)
c.4076T>A (p.Ile1359Asn)
c.1525T>A (n.1525T>A)
c.2843T>A (p.Ile948Asn)
n.3048T>A
n.2665T>A
n.2332T>A
n.2734T>A
n.1479T>A
n.3364T>A
n.3901A>T
n.4163A>T
c.4070T>A (p.Ile1357Asn)
c.3680T>A (p.Ile1227Asn)
c.169+1348A>T (n.169+1348A>T)
c.*124+1147A>T (n.*124+1147A>T)
c.*3417T>A (n.*3417T>A)
n.3063A>T
c.3164T>A (p.Ile1055Asn)
c.971T>A (p.Ile324Asn)
c.3887T>A (p.Ile1296Asn)
c.4163T>A (p.Ile1388Asn)
c.3980T>A (p.Ile1327Asn)
c.3866T>A (p.Ile1289Asn)
c.3257T>A (p.Ile1086Asn)
ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC
2g.47806847T>CCA346761754FBXO11,MSH6c.3773T>C (p.Ile1258Thr)
c.3686T>C (p.Ile1229Thr)
n.4744T>C
c.2504T>C (p.Ile835Thr)
c.4076T>C (p.Ile1359Thr)
c.1525T>C (n.1525T>C)
c.2843T>C (p.Ile948Thr)
n.3048T>C
n.2665T>C
n.2332T>C
n.2734T>C
n.1479T>C
n.3364T>C
n.3901A>G
n.4163A>G
c.4070T>C (p.Ile1357Thr)
c.3680T>C (p.Ile1227Thr)
c.169+1348A>G (n.169+1348A>G)
c.*124+1147A>G (n.*124+1147A>G)
c.*3417T>C (n.*3417T>C)
n.3063A>G
c.3164T>C (p.Ile1055Thr)
c.971T>C (p.Ile324Thr)
c.3887T>C (p.Ile1296Thr)
c.4163T>C (p.Ile1388Thr)
c.3980T>C (p.Ile1327Thr)
c.3866T>C (p.Ile1289Thr)
c.3257T>C (p.Ile1086Thr)
ClinVar dbSNP gnomAD v2 gnomAD v4
2g.47806847T>GCA346761755FBXO11,MSH6c.3773T>G (p.Ile1258Ser)
c.3686T>G (p.Ile1229Ser)
n.4744T>G
c.2504T>G (p.Ile835Ser)
c.4076T>G (p.Ile1359Ser)
c.1525T>G (n.1525T>G)
c.2843T>G (p.Ile948Ser)
n.3048T>G
n.2665T>G
n.2332T>G
n.2734T>G
n.1479T>G
n.3364T>G
n.3901A>C
n.4163A>C
c.4070T>G (p.Ile1357Ser)
c.3680T>G (p.Ile1227Ser)
c.169+1348A>C (n.169+1348A>C)
c.*124+1147A>C (n.*124+1147A>C)
c.*3417T>G (n.*3417T>G)
n.3063A>C
c.3164T>G (p.Ile1055Ser)
c.971T>G (p.Ile324Ser)
c.3887T>G (p.Ile1296Ser)
c.4163T>G (p.Ile1388Ser)
c.3980T>G (p.Ile1327Ser)
c.3866T>G (p.Ile1289Ser)
c.3257T>G (p.Ile1086Ser)
ClinVar dbSNP
2g.47806847T=CA2496054600FBXO11,MSH6c.3773T= (p.Ile1258=)
c.3686T= (p.Ile1229=)
n.4744T=
c.2504T= (p.Ile835=)
c.4076T= (p.Ile1359=)
c.1525T= (n.1525T=)
c.2843T= (p.Ile948=)
n.3048T=
n.2665T=
n.2332T=
n.2734T=
n.1479T=
n.3364T=
n.3901A=
n.4163A=
c.4070T= (p.Ile1357=)
c.3680T= (p.Ile1227=)
c.169+1348A= (n.169+1348A=)
c.*124+1147A= (n.*124+1147A=)
c.*3417T= (n.*3417T=)
n.3063A=
c.3164T= (p.Ile1055=)
c.971T= (p.Ile324=)
c.3887T= (p.Ile1296=)
c.4163T= (p.Ile1388=)
c.3980T= (p.Ile1327=)
c.3866T= (p.Ile1289=)
c.3257T= (p.Ile1086=)
2g.47806847_47806848delCA769469056FBXO11,MSH6c.3773_3774del (p.Ile1258LysfsTer6)
c.3686_3687del (p.Ile1229LysfsTer6)
n.4744_4745del
c.2504_2505del (p.Ile835LysfsTer6)
c.4076_4077del (p.Ile1359LysfsTer6)
c.1525_1526del (n.1525_1526del)
c.2843_2844del (p.Ile948LysfsTer6)
n.3048_3049del
n.2665_2666del
n.2332_2333del
n.2734_2735del
n.1479_1480del
n.3364_3365del
n.3900_3901del
n.4162_4163del
c.4070_4071del (p.Ile1357LysfsTer6)
c.3680_3681del (p.Ile1227LysfsTer6)
c.169+1347_169+1348del (n.169+1347_169+1348del)
c.*124+1146_*124+1147del (n.*124+1146_*124+1147del)
c.*3417_*3418del (n.*3417_*3418del)
n.3062_3063del
c.3164_3165del (p.Ile1055LysfsTer6)
c.971_972del (p.Ile324LysfsTer6)
c.3887_3888del (p.Ile1296LysfsTer6)
c.4163_4164del (p.Ile1388LysfsTer6)
c.3980_3981del (p.Ile1327LysfsTer6)
c.3866_3867del (p.Ile1289LysfsTer6)
c.3257_3258del (p.Ile1086LysfsTer6)
dbSNP
2g.47806847_47806857delinsTTAAGGAATTACA2496054599FBXO11,MSH6c.3773_3783delinsTTAAGGAATTA (p.Ile1258=)
c.3686_3696delinsTTAAGGAATTA (p.Ile1229=)
n.4744_4754delinsTTAAGGAATTA
c.2504_2514delinsTTAAGGAATTA (p.Ile835=)
c.4076_4086delinsTTAAGGAATTA (p.Ile1359=)
c.1525_1535delinsTTAAGGAATTA (n.1525_1535delinsTTAAGGAATTA)
c.2843_2853delinsTTAAGGAATTA (p.Ile948=)
n.3048_3058delinsTTAAGGAATTA
n.2665_2675delinsTTAAGGAATTA
n.2332_2342delinsTTAAGGAATTA
n.2734_2744delinsTTAAGGAATTA
n.1479_1489delinsTTAAGGAATTA
n.3364_3374delinsTTAAGGAATTA
n.3891_3901delinsTAATTCCTTAA
n.4153_4163delinsTAATTCCTTAA
c.4070_4080delinsTTAAGGAATTA (p.Ile1357=)
c.3680_3690delinsTTAAGGAATTA (p.Ile1227=)
c.169+1338_169+1348delinsTAATTCCTTAA (n.169+1338_169+1348delinsTAATTCCTTAA)
c.*124+1137_*124+1147delinsTAATTCCTTAA (n.*124+1137_*124+1147delinsTAATTCCTTAA)
c.*3417_*3427delinsTTAAGGAATTA (n.*3417_*3427delinsTTAAGGAATTA)
n.3053_3063delinsTAATTCCTTAA
c.3164_3174delinsTTAAGGAATTA (p.Ile1055=)
c.971_981delinsTTAAGGAATTA (p.Ile324=)
c.3887_3897delinsTTAAGGAATTA (p.Ile1296=)
c.4163_4173delinsTTAAGGAATTA (p.Ile1388=)
c.3980_3990delinsTTAAGGAATTA (p.Ile1327=)
c.3866_3876delinsTTAAGGAATTA (p.Ile1289=)
c.3257_3267delinsTTAAGGAATTA (p.Ile1086=)
2g.47806848T>ACA426122293FBXO11,MSH6c.3774T>A (p.Ile1258=)
c.3687T>A (p.Ile1229=)
n.4745T>A
c.2505T>A (p.Ile835=)
c.4077T>A (p.Ile1359=)
c.1526T>A (n.1526T>A)
c.2844T>A (p.Ile948=)
n.3049T>A
n.2666T>A
n.2333T>A
n.2735T>A
n.1480T>A
n.3365T>A
n.3900A>T
n.4162A>T
c.4071T>A (p.Ile1357=)
c.3681T>A (p.Ile1227=)
c.169+1347A>T (n.169+1347A>T)
c.*124+1146A>T (n.*124+1146A>T)
c.*3418T>A (n.*3418T>A)
n.3062A>T
c.3165T>A (p.Ile1055=)
c.972T>A (p.Ile324=)
c.3888T>A (p.Ile1296=)
c.4164T>A (p.Ile1388=)
c.3981T>A (p.Ile1327=)
c.3867T>A (p.Ile1289=)
c.3258T>A (p.Ile1086=)
2g.47806848T>CCA426122292FBXO11,MSH6c.3774T>C (p.Ile1258=)
c.3687T>C (p.Ile1229=)
n.4745T>C
c.2505T>C (p.Ile835=)
c.4077T>C (p.Ile1359=)
c.1526T>C (n.1526T>C)
c.2844T>C (p.Ile948=)
n.3049T>C
n.2666T>C
n.2333T>C
n.2735T>C
n.1480T>C
n.3365T>C
n.3900A>G
n.4162A>G
c.4071T>C (p.Ile1357=)
c.3681T>C (p.Ile1227=)
c.169+1347A>G (n.169+1347A>G)
c.*124+1146A>G (n.*124+1146A>G)
c.*3418T>C (n.*3418T>C)
n.3062A>G
c.3165T>C (p.Ile1055=)
c.972T>C (p.Ile324=)
c.3888T>C (p.Ile1296=)
c.4164T>C (p.Ile1388=)
c.3981T>C (p.Ile1327=)
c.3867T>C (p.Ile1289=)
c.3258T>C (p.Ile1086=)
2g.47806848T>GCA346761756FBXO11,MSH6c.3774T>G (p.Ile1258Met)
c.3687T>G (p.Ile1229Met)
n.4745T>G
c.2505T>G (p.Ile835Met)
c.4077T>G (p.Ile1359Met)
c.1526T>G (n.1526T>G)
c.2844T>G (p.Ile948Met)
n.3049T>G
n.2666T>G
n.2333T>G
n.2735T>G
n.1480T>G
n.3365T>G
n.3900A>C
n.4162A>C
c.4071T>G (p.Ile1357Met)
c.3681T>G (p.Ile1227Met)
c.169+1347A>C (n.169+1347A>C)
c.*124+1146A>C (n.*124+1146A>C)
c.*3418T>G (n.*3418T>G)
n.3062A>C
c.3165T>G (p.Ile1055Met)
c.972T>G (p.Ile324Met)
c.3888T>G (p.Ile1296Met)
c.4164T>G (p.Ile1388Met)
c.3981T>G (p.Ile1327Met)
c.3867T>G (p.Ile1289Met)
c.3258T>G (p.Ile1086Met)
ClinVar dbSNP gnomAD v4
2g.47806848T=CA2496054601FBXO11,MSH6c.3774T= (p.Ile1258=)
c.3687T= (p.Ile1229=)
n.4745T=
c.2505T= (p.Ile835=)
c.4077T= (p.Ile1359=)
c.1526T= (n.1526T=)
c.2844T= (p.Ile948=)
n.3049T=
n.2666T=
n.2333T=
n.2735T=
n.1480T=
n.3365T=
n.3900A=
n.4162A=
c.4071T= (p.Ile1357=)
c.3681T= (p.Ile1227=)
c.169+1347A= (n.169+1347A=)
c.*124+1146A= (n.*124+1146A=)
c.*3418T= (n.*3418T=)
n.3062A=
c.3165T= (p.Ile1055=)
c.972T= (p.Ile324=)
c.3888T= (p.Ile1296=)
c.4164T= (p.Ile1388=)
c.3981T= (p.Ile1327=)
c.3867T= (p.Ile1289=)
c.3258T= (p.Ile1086=)
2g.47806848_47806849insGACTCA2699336373FBXO11,MSH6c.3774_3775insGACT (p.Lys1259AspfsTer2)
c.3687_3688insGACT (p.Lys1230AspfsTer2)
n.4745_4746insGACT
c.2505_2506insGACT (p.Lys836AspfsTer2)
c.4077_4078insGACT (p.Lys1360AspfsTer2)
c.1526_1527insGACT (n.1526_1527insGACT)
c.2844_2845insGACT (p.Lys949AspfsTer2)
n.3049_3050insGACT
n.2666_2667insGACT
n.2333_2334insGACT
n.2735_2736insGACT
n.1480_1481insGACT
n.3365_3366insGACT
n.3900_3901insGTCA
n.4162_4163insGTCA
c.4071_4072insGACT (p.Lys1358AspfsTer2)
c.3681_3682insGACT (p.Lys1228AspfsTer2)
c.169+1347_169+1348insGTCA (n.169+1347_169+1348insGTCA)
c.*124+1146_*124+1147insGTCA (n.*124+1146_*124+1147insGTCA)
c.*3418_*3419insGACT (n.*3418_*3419insGACT)
n.3062_3063insGTCA
c.3165_3166insGACT (p.Lys1056AspfsTer2)
c.972_973insGACT (p.Lys325AspfsTer2)
c.3888_3889insGACT (p.Lys1297AspfsTer2)
c.4164_4165insGACT (p.Lys1389AspfsTer2)
c.3981_3982insGACT (p.Lys1328AspfsTer2)
c.3867_3868insGACT (p.Lys1290AspfsTer2)
c.3258_3259insGACT (p.Lys1087AspfsTer2)
dbSNP
2g.47806848_47806851dupCA015459FBXO11,MSH6c.3774_3777dup (p.Glu1260Ter)
c.3687_3690dup (p.Glu1231Ter)
n.4745_4748dup
c.2505_2508dup (p.Glu837Ter)
c.4077_4080dup (p.Glu1361Ter)
c.1526_1529dup (n.1526_1529dup)
c.2844_2847dup (p.Glu950Ter)
n.3049_3052dup
n.2666_2669dup
n.2333_2336dup
n.2735_2738dup
n.1480_1483dup
n.3365_3368dup
n.3897_3900dup
n.4159_4162dup
c.4071_4074dup (p.Glu1359Ter)
c.3681_3684dup (p.Glu1229Ter)
c.169+1344_169+1347dup (n.169+1344_169+1347dup)
c.*124+1143_*124+1146dup (n.*124+1143_*124+1146dup)
c.*3418_*3421dup (n.*3418_*3421dup)
n.3059_3062dup
c.3165_3168dup (p.Glu1057Ter)
c.972_975dup (p.Glu326Ter)
c.3888_3891dup (p.Glu1298Ter)
c.4164_4167dup (p.Glu1390Ter)
c.3981_3984dup (p.Glu1329Ter)
c.3867_3870dup (p.Glu1291Ter)
c.3258_3261dup (p.Glu1088Ter)
ClinVar dbSNP
2g.47806850_47806859delCA1139656957FBXO11,MSH6c.3776_3785del (p.Lys1259ArgfsTer10)
c.3689_3698del (p.Lys1230ArgfsTer10)
n.4747_4756del
c.2507_2516del (p.Lys836ArgfsTer10)
c.4079_4088del (p.Lys1360ArgfsTer10)
c.1528_1537del (n.1528_1537del)
c.2846_2855del (p.Lys949ArgfsTer10)
n.3051_3060del
n.2668_2677del
n.2335_2344del
n.2737_2746del
n.1482_1491del
n.3367_3376del
n.3891_3900del
n.4153_4162del
c.4073_4082del (p.Lys1358ArgfsTer10)
c.3683_3692del (p.Lys1228ArgfsTer10)
c.169+1338_169+1347del (n.169+1338_169+1347del)
c.*124+1137_*124+1146del (n.*124+1137_*124+1146del)
c.*3420_*3429del (n.*3420_*3429del)
n.3053_3062del
c.3167_3176del (p.Lys1056ArgfsTer10)
c.974_983del (p.Lys325ArgfsTer10)
c.3890_3899del (p.Lys1297ArgfsTer10)
c.4166_4175del (p.Lys1389ArgfsTer10)
c.3983_3992del (p.Lys1328ArgfsTer10)
c.3869_3878del (p.Lys1290ArgfsTer10)
c.3260_3269del (p.Lys1087ArgfsTer10)
ClinVar dbSNP
2g.47806848_47806861dupCA2580067607FBXO11,MSH6c.3774_*1dup (n.3774_*1dup)
c.3687_*1dup (n.3687_*1dup)
n.4745_4758dup
c.2505_*1dup (n.2505_*1dup)
c.4077_*1dup (n.4077_*1dup)
c.1526_1539dup (n.1526_1539dup)
c.2844_2857dup (n.2844_2857dup)
n.3049_3062dup
n.2666_2679dup
n.2333_2346dup
n.2735_2748dup
n.1480_1493dup
n.3365_3378dup
n.3887_3900dup
n.4149_4162dup
c.4071_*1dup (n.4071_*1dup)
c.3681_*1dup (n.3681_*1dup)
c.169+1334_169+1347dup (n.169+1334_169+1347dup)
c.*124+1133_*124+1146dup (n.*124+1133_*124+1146dup)
c.*3418_*3431dup (n.*3418_*3431dup)
c.3165_*1dup (n.3165_*1dup)
c.972_*1dup (n.972_*1dup)
c.3888_*1dup (n.3888_*1dup)
c.4164_*1dup (n.4164_*1dup)
c.3981_*1dup (n.3981_*1dup)
c.3867_*1dup (n.3867_*1dup)
c.3258_*1dup (n.3258_*1dup)
ClinVar
2g.47806848_47806864dupCA532705592FBXO11,MSH6c.3774_*4dup (n.3774_*4dup)
c.3687_*4dup (n.3687_*4dup)
n.4745_4761dup
c.2505_*4dup (n.2505_*4dup)
c.4077_*4dup (n.4077_*4dup)
c.1526_1542dup (n.1526_1542dup)
c.2844_2860dup (n.2844_2860dup)
n.3049_3065dup
n.2666_2682dup
n.2333_2349dup
n.2735_2751dup
n.1480_1496dup
n.3365_3381dup
n.3884_3900dup
n.4146_4162dup
c.4071_*4dup (n.4071_*4dup)
c.3681_*4dup (n.3681_*4dup)
c.169+1331_169+1347dup (n.169+1331_169+1347dup)
c.*124+1130_*124+1146dup (n.*124+1130_*124+1146dup)
c.*3418_*3434dup (n.*3418_*3434dup)
n.3046_3062dup
c.3165_*4dup (n.3165_*4dup)
c.972_*4dup (n.972_*4dup)
c.3888_*4dup (n.3888_*4dup)
c.4164_*4dup (n.4164_*4dup)
c.3981_*4dup (n.3981_*4dup)
c.3867_*4dup (n.3867_*4dup)
c.3258_*4dup (n.3258_*4dup)
ClinVar dbSNP gnomAD v2 gnomAD v4
2g.47806848_47806868dupCA2658970555FBXO11,MSH6c.3774_*8dup (n.3774_*8dup)
c.3687_*8dup (n.3687_*8dup)
n.4745_4765dup
c.2505_*8dup (n.2505_*8dup)
c.4077_*8dup (n.4077_*8dup)
c.1526_1546dup (n.1526_1546dup)
c.2844_2864dup (n.2844_2864dup)
n.2666_2686dup
n.2333_2353dup
n.2735_2755dup
n.1480_1500dup
n.3365_3385dup
n.3880_3900dup
n.4142_4162dup
c.4071_*8dup (n.4071_*8dup)
c.3681_*8dup (n.3681_*8dup)
c.169+1327_169+1347dup (n.169+1327_169+1347dup)
c.*124+1126_*124+1146dup (n.*124+1126_*124+1146dup)
c.*3418_*3438dup (n.*3418_*3438dup)
n.3042_3062dup
c.3165_*8dup (n.3165_*8dup)
c.972_*8dup (n.972_*8dup)
c.3888_*8dup (n.3888_*8dup)
c.4164_*8dup (n.4164_*8dup)
c.3981_*8dup (n.3981_*8dup)
c.3867_*8dup (n.3867_*8dup)
c.3258_*8dup (n.3258_*8dup)
ClinVar gnomAD v4
2g.47806848_47806869dupCA916529873FBXO11,MSH6c.3774_*9dup (n.3774_*9dup)
c.3687_*9dup (n.3687_*9dup)
n.4745_4766dup
c.2505_*9dup (n.2505_*9dup)
c.4077_*9dup (n.4077_*9dup)
c.1526_1547dup (n.1526_1547dup)
c.2844_2865dup (n.2844_2865dup)
n.2666_2687dup
n.2333_2354dup
n.2735_2756dup
n.1480_1501dup
n.3365_3386dup
n.3879_3900dup
n.4141_4162dup
c.4071_*9dup (n.4071_*9dup)
c.3681_*9dup (n.3681_*9dup)
c.169+1326_169+1347dup (n.169+1326_169+1347dup)
c.*124+1125_*124+1146dup (n.*124+1125_*124+1146dup)
c.*3418_*3439dup (n.*3418_*3439dup)
n.3041_3062dup
c.3165_*9dup (n.3165_*9dup)
c.972_*9dup (n.972_*9dup)
c.3888_*9dup (n.3888_*9dup)
c.4164_*9dup (n.4164_*9dup)
c.3981_*9dup (n.3981_*9dup)
c.3867_*9dup (n.3867_*9dup)
c.3258_*9dup (n.3258_*9dup)
ClinVar dbSNP
2g.47806848_47806849insCACA1030298153FBXO11,MSH6c.3774_3775insCA (p.Lys1259GlnfsTer14)
c.3687_3688insCA (p.Lys1230GlnfsTer14)
n.4745_4746insCA
c.2505_2506insCA (p.Lys836GlnfsTer14)
c.4077_4078insCA (p.Lys1360GlnfsTer14)
c.1526_1527insCA (n.1526_1527insCA)
c.2844_2845insCA (p.Lys949GlnfsTer14)
n.3049_3050insCA
n.2666_2667insCA
n.2333_2334insCA
n.2735_2736insCA
n.1480_1481insCA
n.3365_3366insCA
n.3899_3900insTG
n.4161_4162insTG
c.4071_4072insCA (p.Lys1358GlnfsTer14)
c.3681_3682insCA (p.Lys1228GlnfsTer14)
c.169+1346_169+1347insTG (n.169+1346_169+1347insTG)
c.*124+1145_*124+1146insTG (n.*124+1145_*124+1146insTG)
c.*3418_*3419insCA (n.*3418_*3419insCA)
n.3061_3062insTG
c.3165_3166insCA (p.Lys1056GlnfsTer14)
c.972_973insCA (p.Lys325GlnfsTer14)
c.3888_3889insCA (p.Lys1297GlnfsTer14)
c.4164_4165insCA (p.Lys1389GlnfsTer14)
c.3981_3982insCA (p.Lys1328GlnfsTer14)
c.3867_3868insCA (p.Lys1290GlnfsTer14)
c.3258_3259insCA (p.Lys1087GlnfsTer14)
gnomAD v3 gnomAD v4
2g.47806848_47806849insTTGACA46720448FBXO11,MSH6c.3774_3775insTTGA (p.Lys1259LeufsTer7)
c.3687_3688insTTGA (p.Lys1230LeufsTer7)
n.4745_4746insTTGA
c.2505_2506insTTGA (p.Lys836LeufsTer7)
c.4077_4078insTTGA (p.Lys1360LeufsTer7)
c.1526_1527insTTGA (n.1526_1527insTTGA)
c.2844_2845insTTGA (p.Lys949LeufsTer7)
n.3049_3050insTTGA
n.2666_2667insTTGA
n.2333_2334insTTGA
n.2735_2736insTTGA
n.1480_1481insTTGA
n.3365_3366insTTGA
n.3899_3900insTCAA
n.4161_4162insTCAA
c.4071_4072insTTGA (p.Lys1358LeufsTer7)
c.3681_3682insTTGA (p.Lys1228LeufsTer7)
c.169+1346_169+1347insTCAA (n.169+1346_169+1347insTCAA)
c.*124+1145_*124+1146insTCAA (n.*124+1145_*124+1146insTCAA)
c.*3418_*3419insTTGA (n.*3418_*3419insTTGA)
n.3061_3062insTCAA
c.3165_3166insTTGA (p.Lys1056LeufsTer7)
c.972_973insTTGA (p.Lys325LeufsTer7)
c.3888_3889insTTGA (p.Lys1297LeufsTer7)
c.4164_4165insTTGA (p.Lys1389LeufsTer7)
c.3981_3982insTTGA (p.Lys1328LeufsTer7)
c.3867_3868insTTGA (p.Lys1290LeufsTer7)
c.3258_3259insTTGA (p.Lys1087LeufsTer7)
2g.47806849A=CA2496054602FBXO11,MSH6c.3775A= (p.Lys1259=)
c.3688A= (p.Lys1230=)
n.4746A=
c.2506A= (p.Lys836=)
c.4078A= (p.Lys1360=)
c.1527A= (n.1527A=)
c.2845A= (p.Lys949=)
n.3050A=
n.2667A=
n.2334A=
n.2736A=
n.1481A=
n.3366A=
n.3899T=
n.4161T=
c.4072A= (p.Lys1358=)
c.3682A= (p.Lys1228=)
c.169+1346T= (n.169+1346T=)
c.*124+1145T= (n.*124+1145T=)
c.*3419A= (n.*3419A=)
n.3061T=
c.3166A= (p.Lys1056=)
c.973A= (p.Lys325=)
c.3889A= (p.Lys1297=)
c.4165A= (p.Lys1389=)
c.3982A= (p.Lys1328=)
c.3868A= (p.Lys1290=)
c.3259A= (p.Lys1087=)
2g.47806849A>CCA346761757FBXO11,MSH6c.3775A>C (p.Lys1259Gln)
c.3688A>C (p.Lys1230Gln)
n.4746A>C
c.2506A>C (p.Lys836Gln)
c.4078A>C (p.Lys1360Gln)
c.1527A>C (n.1527A>C)
c.2845A>C (p.Lys949Gln)
n.3050A>C
n.2667A>C
n.2334A>C
n.2736A>C
n.1481A>C
n.3366A>C
n.3899T>G
n.4161T>G
c.4072A>C (p.Lys1358Gln)
c.3682A>C (p.Lys1228Gln)
c.169+1346T>G (n.169+1346T>G)
c.*124+1145T>G (n.*124+1145T>G)
c.*3419A>C (n.*3419A>C)
n.3061T>G
c.3166A>C (p.Lys1056Gln)
c.973A>C (p.Lys325Gln)
c.3889A>C (p.Lys1297Gln)
c.4165A>C (p.Lys1389Gln)
c.3982A>C (p.Lys1328Gln)
c.3868A>C (p.Lys1290Gln)
c.3259A>C (p.Lys1087Gln)
2g.47806849A>GCA015447FBXO11,MSH6c.3775A>G (p.Lys1259Glu)
c.3688A>G (p.Lys1230Glu)
n.4746A>G
c.2506A>G (p.Lys836Glu)
c.4078A>G (p.Lys1360Glu)
c.1527A>G (n.1527A>G)
c.2845A>G (p.Lys949Glu)
n.3050A>G
n.2667A>G
n.2334A>G
n.2736A>G
n.1481A>G
n.3366A>G
n.3899T>C
n.4161T>C
c.4072A>G (p.Lys1358Glu)
c.3682A>G (p.Lys1228Glu)
c.169+1346T>C (n.169+1346T>C)
c.*124+1145T>C (n.*124+1145T>C)
c.*3419A>G (n.*3419A>G)
n.3061T>C
c.3166A>G (p.Lys1056Glu)
c.973A>G (p.Lys325Glu)
c.3889A>G (p.Lys1297Glu)
c.4165A>G (p.Lys1389Glu)
c.3982A>G (p.Lys1328Glu)
c.3868A>G (p.Lys1290Glu)
c.3259A>G (p.Lys1087Glu)
ClinVar dbSNP
2g.47806849A>TCA346761758FBXO11,MSH6c.3775A>T (p.Lys1259Ter)
c.3688A>T (p.Lys1230Ter)
n.4746A>T
c.2506A>T (p.Lys836Ter)
c.4078A>T (p.Lys1360Ter)
c.1527A>T (n.1527A>T)
c.2845A>T (p.Lys949Ter)
n.3050A>T
n.2667A>T
n.2334A>T
n.2736A>T
n.1481A>T
n.3366A>T
n.3899T>A
n.4161T>A
c.4072A>T (p.Lys1358Ter)
c.3682A>T (p.Lys1228Ter)
c.169+1346T>A (n.169+1346T>A)
c.*124+1145T>A (n.*124+1145T>A)
c.*3419A>T (n.*3419A>T)
n.3061T>A
c.3166A>T (p.Lys1056Ter)
c.973A>T (p.Lys325Ter)
c.3889A>T (p.Lys1297Ter)
c.4165A>T (p.Lys1389Ter)
c.3982A>T (p.Lys1328Ter)
c.3868A>T (p.Lys1290Ter)
c.3259A>T (p.Lys1087Ter)
dbSNP
2g.47806850dupCA2499216158FBXO11,MSH6c.3776dup (p.Glu1260GlyfsTer5)
c.3689dup (p.Glu1231GlyfsTer5)
n.4747dup
c.2507dup (p.Glu837GlyfsTer5)
c.4079dup (p.Glu1361GlyfsTer5)
c.1528dup (n.1528dup)
c.2846dup (p.Glu950GlyfsTer5)
n.3051dup
n.2668dup
n.2335dup
n.2737dup
n.1482dup
n.3367dup
n.3899dup
n.4161dup
c.4073dup (p.Glu1359GlyfsTer5)
c.3683dup (p.Glu1229GlyfsTer5)
c.169+1346dup (n.169+1346dup)
c.*124+1145dup (n.*124+1145dup)
c.*3420dup (n.*3420dup)
n.3061dup
c.3167dup (p.Glu1057GlyfsTer5)
c.974dup (p.Glu326GlyfsTer5)
c.3890dup (p.Glu1298GlyfsTer5)
c.4166dup (p.Glu1390GlyfsTer5)
c.3983dup (p.Glu1329GlyfsTer5)
c.3869dup (p.Glu1291GlyfsTer5)
c.3260dup (p.Glu1088GlyfsTer5)
ClinVar dbSNP gnomAD v4
2g.47806849_47806851delCA2580067608FBXO11,MSH6c.3775_3777del (p.Lys1259del)
c.3688_3690del (p.Lys1230del)
n.4746_4748del
c.2506_2508del (p.Lys836del)
c.4078_4080del (p.Lys1360del)
c.1527_1529del (n.1527_1529del)
c.2845_2847del (p.Lys949del)
n.3050_3052del
n.2667_2669del
n.2334_2336del
n.2736_2738del
n.1481_1483del
n.3366_3368del
n.3897_3899del
n.4159_4161del
c.4072_4074del (p.Lys1358del)
c.3682_3684del (p.Lys1228del)
c.169+1344_169+1346del (n.169+1344_169+1346del)
c.*124+1143_*124+1145del (n.*124+1143_*124+1145del)
c.*3419_*3421del (n.*3419_*3421del)
n.3059_3061del
c.3166_3168del (p.Lys1056del)
c.973_975del (p.Lys325del)
c.3889_3891del (p.Lys1297del)
c.4165_4167del (p.Lys1389del)
c.3982_3984del (p.Lys1328del)
c.3868_3870del (p.Lys1290del)
c.3259_3261del (p.Lys1087del)
ClinVar
2g.47806850A=CA2496054603FBXO11,MSH6c.3776A= (p.Lys1259=)
c.3689A= (p.Lys1230=)
n.4747A=
c.2507A= (p.Lys836=)
c.4079A= (p.Lys1360=)
c.1528A= (n.1528A=)
c.2846A= (p.Lys949=)
n.3051A=
n.2668A=
n.2335A=
n.2737A=
n.1482A=
n.3367A=
n.3898T=
n.4160T=
c.4073A= (p.Lys1358=)
c.3683A= (p.Lys1228=)
c.169+1345T= (n.169+1345T=)
c.*124+1144T= (n.*124+1144T=)
c.*3420A= (n.*3420A=)
n.3060T=
c.3167A= (p.Lys1056=)
c.974A= (p.Lys325=)
c.3890A= (p.Lys1297=)
c.4166A= (p.Lys1389=)
c.3983A= (p.Lys1328=)
c.3869A= (p.Lys1290=)
c.3260A= (p.Lys1087=)
2g.47806850A>CCA346761759FBXO11,MSH6c.3776A>C (p.Lys1259Thr)
c.3689A>C (p.Lys1230Thr)
n.4747A>C
c.2507A>C (p.Lys836Thr)
c.4079A>C (p.Lys1360Thr)
c.1528A>C (n.1528A>C)
c.2846A>C (p.Lys949Thr)
n.3051A>C
n.2668A>C
n.2335A>C
n.2737A>C
n.1482A>C
n.3367A>C
n.3898T>G
n.4160T>G
c.4073A>C (p.Lys1358Thr)
c.3683A>C (p.Lys1228Thr)
c.169+1345T>G (n.169+1345T>G)
c.*124+1144T>G (n.*124+1144T>G)
c.*3420A>C (n.*3420A>C)
n.3060T>G
c.3167A>C (p.Lys1056Thr)
c.974A>C (p.Lys325Thr)
c.3890A>C (p.Lys1297Thr)
c.4166A>C (p.Lys1389Thr)
c.3983A>C (p.Lys1328Thr)
c.3869A>C (p.Lys1290Thr)
c.3260A>C (p.Lys1087Thr)
2g.47806850A>GCA346761761FBXO11,MSH6c.3776A>G (p.Lys1259Arg)
c.3689A>G (p.Lys1230Arg)
n.4747A>G
c.2507A>G (p.Lys836Arg)
c.4079A>G (p.Lys1360Arg)
c.1528A>G (n.1528A>G)
c.2846A>G (p.Lys949Arg)
n.3051A>G
n.2668A>G
n.2335A>G
n.2737A>G
n.1482A>G
n.3367A>G
n.3898T>C
n.4160T>C
c.4073A>G (p.Lys1358Arg)
c.3683A>G (p.Lys1228Arg)
c.169+1345T>C (n.169+1345T>C)
c.*124+1144T>C (n.*124+1144T>C)
c.*3420A>G (n.*3420A>G)
n.3060T>C
c.3167A>G (p.Lys1056Arg)
c.974A>G (p.Lys325Arg)
c.3890A>G (p.Lys1297Arg)
c.4166A>G (p.Lys1389Arg)
c.3983A>G (p.Lys1328Arg)
c.3869A>G (p.Lys1290Arg)
c.3260A>G (p.Lys1087Arg)
ClinVar dbSNP gnomAD v4
2g.47806850A>TCA346761760FBXO11,MSH6c.3776A>T (p.Lys1259Met)
c.3689A>T (p.Lys1230Met)
n.4747A>T
c.2507A>T (p.Lys836Met)
c.4079A>T (p.Lys1360Met)
c.1528A>T (n.1528A>T)
c.2846A>T (p.Lys949Met)
n.3051A>T
n.2668A>T
n.2335A>T
n.2737A>T
n.1482A>T
n.3367A>T
n.3898T>A
n.4160T>A
c.4073A>T (p.Lys1358Met)
c.3683A>T (p.Lys1228Met)
c.169+1345T>A (n.169+1345T>A)
c.*124+1144T>A (n.*124+1144T>A)
c.*3420A>T (n.*3420A>T)
n.3060T>A
c.3167A>T (p.Lys1056Met)
c.974A>T (p.Lys325Met)
c.3890A>T (p.Lys1297Met)
c.4166A>T (p.Lys1389Met)
c.3983A>T (p.Lys1328Met)
c.3869A>T (p.Lys1290Met)
c.3260A>T (p.Lys1087Met)
2g.47806851_47806865delCA2576961640FBXO11,MSH6c.3777_*5del (n.[c.3777_*5del;Lys1259AsnfsTer28])
c.3690_*5del (n.[c.3690_*5del;Lys1230AsnfsTer?])
n.4748_4762del
c.2508_*5del (n.[c.2508_*5del;Lys836AsnfsTer?])
c.4080_*5del (n.[c.4080_*5del;Lys1360AsnfsTer?])
c.1529_1543del (n.1529_1543del)
c.2847_2861del (n.[c.2847_2861del;Lys949AsnfsTer?])
n.3052_3066del
n.2669_2683del
n.2336_2350del
n.2738_2752del
n.1483_1497del
n.3368_3382del
n.3884_3898del
n.4146_4160del
c.4074_*5del (n.[c.4074_*5del;Lys1358AsnfsTer28])
c.3684_*5del (n.[c.3684_*5del;Lys1228AsnfsTer?])
c.3777_*5del (n.[c.3777_*5del;Lys1259AsnfsTer?])
c.169+1331_169+1345del (n.169+1331_169+1345del)
c.*124+1130_*124+1144del (n.*124+1130_*124+1144del)
c.*3421_*3435del (n.*3421_*3435del)
n.3046_3060del
c.3168_*5del (n.[c.3168_*5del;Lys1056AsnfsTer?])
c.975_*5del (n.[c.975_*5del;Lys325AsnfsTer28])
c.3684_*5del (n.[c.3684_*5del;Lys1228AsnfsTer28])
c.3168_*5del (n.[c.3168_*5del;Lys1056AsnfsTer28])
c.3891_*5del (n.[c.3891_*5del;Lys1297AsnfsTer28])
c.4167_*5del (n.[c.4167_*5del;Lys1389AsnfsTer28])
c.3984_*5del (n.[c.3984_*5del;Lys1328AsnfsTer28])
c.3870_*5del (n.[c.3870_*5del;Lys1290AsnfsTer28])
c.3261_*5del (n.[c.3261_*5del;Lys1087AsnfsTer28])
ClinVar
2g.47806850_47806893dupCA532705593FBXO11,MSH6c.3776_*33dup (n.3776_*33dup)
c.3689_*33dup (n.3689_*33dup)
n.4747_4790dup
c.2507_*33dup (n.2507_*33dup)
c.4079_*33dup (n.4079_*33dup)
c.1528_1571dup (n.1528_1571dup)
c.2846_2889dup (n.2846_2889dup)
n.2668_2711dup
n.2335_2378dup
n.2737_2780dup
n.1482_1525dup
n.3367_3410dup
n.3855_3898dup
n.4117_4160dup
c.4073_*33dup (n.4073_*33dup)
c.3683_*33dup (n.3683_*33dup)
c.169+1302_169+1345dup (n.169+1302_169+1345dup)
c.*124+1101_*124+1144dup (n.*124+1101_*124+1144dup)
c.*3420_*3463dup (n.*3420_*3463dup)
n.3017_3060dup
c.3167_*33dup (n.3167_*33dup)
c.974_*33dup (n.974_*33dup)
c.3890_*33dup (n.3890_*33dup)
c.4166_*33dup (n.4166_*33dup)
c.3983_*33dup (n.3983_*33dup)
c.3869_*33dup (n.3869_*33dup)
c.3260_*33dup (n.3260_*33dup)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.47806851_47806897dupCA2573134816FBXO11,MSH6c.3777_*37dup (n.3777_*37dup)
c.3690_*37dup (n.3690_*37dup)
n.4748_4794dup
c.2508_*37dup (n.2508_*37dup)
c.4080_*37dup (n.4080_*37dup)
c.1529_1575dup (n.1529_1575dup)
c.2847_2893dup (n.2847_2893dup)
n.2669_2715dup
n.2336_2382dup
n.2738_2784dup
n.1483_1529dup
n.3368_3414dup
n.3852_3898dup
n.4114_4160dup
c.4074_*37dup (n.4074_*37dup)
c.3684_*37dup (n.3684_*37dup)
c.169+1299_169+1345dup (n.169+1299_169+1345dup)
c.*124+1098_*124+1144dup (n.*124+1098_*124+1144dup)
c.*3421_*3467dup (n.*3421_*3467dup)
n.3014_3060dup
c.3168_*37dup (n.3168_*37dup)
c.975_*37dup (n.975_*37dup)
c.3891_*37dup (n.3891_*37dup)
c.4167_*37dup (n.4167_*37dup)
c.3984_*37dup (n.3984_*37dup)
c.3870_*37dup (n.3870_*37dup)
c.3261_*37dup (n.3261_*37dup)
ClinVar dbSNP
2g.47806851G>ACA16604315FBXO11,MSH6c.3777G>A (p.Lys1259=)
c.3690G>A (p.Lys1230=)
n.4748G>A
c.2508G>A (p.Lys836=)
c.4080G>A (p.Lys1360=)
c.1529G>A (n.1529G>A)
c.2847G>A (p.Lys949=)
n.3052G>A
n.2669G>A
n.2336G>A
n.2738G>A
n.1483G>A
n.3368G>A
n.3897C>T
n.4159C>T
c.4074G>A (p.Lys1358=)
c.3684G>A (p.Lys1228=)
c.169+1344C>T (n.169+1344C>T)
c.*124+1143C>T (n.*124+1143C>T)
c.*3421G>A (n.*3421G>A)
n.3059C>T
c.3168G>A (p.Lys1056=)
c.975G>A (p.Lys325=)
c.3891G>A (p.Lys1297=)
c.4167G>A (p.Lys1389=)
c.3984G>A (p.Lys1328=)
c.3870G>A (p.Lys1290=)
c.3261G>A (p.Lys1087=)
ClinVar dbSNP
2g.47806851G>CCA346761763FBXO11,MSH6c.3777G>C (p.Lys1259Asn)
c.3690G>C (p.Lys1230Asn)
n.4748G>C
c.2508G>C (p.Lys836Asn)
c.4080G>C (p.Lys1360Asn)
c.1529G>C (n.1529G>C)
c.2847G>C (p.Lys949Asn)
n.3052G>C
n.2669G>C
n.2336G>C
n.2738G>C
n.1483G>C
n.3368G>C
n.3897C>G
n.4159C>G
c.4074G>C (p.Lys1358Asn)
c.3684G>C (p.Lys1228Asn)
c.169+1344C>G (n.169+1344C>G)
c.*124+1143C>G (n.*124+1143C>G)
c.*3421G>C (n.*3421G>C)
n.3059C>G
c.3168G>C (p.Lys1056Asn)
c.975G>C (p.Lys325Asn)
c.3891G>C (p.Lys1297Asn)
c.4167G>C (p.Lys1389Asn)
c.3984G>C (p.Lys1328Asn)
c.3870G>C (p.Lys1290Asn)
c.3261G>C (p.Lys1087Asn)
ClinVar dbSNP gnomAD v4
2g.47806851G=CA2496054604FBXO11,MSH6c.3777G= (p.Lys1259=)
c.3690G= (p.Lys1230=)
n.4748G=
c.2508G= (p.Lys836=)
c.4080G= (p.Lys1360=)
c.1529G= (n.1529G=)
c.2847G= (p.Lys949=)
n.3052G=
n.2669G=
n.2336G=
n.2738G=
n.1483G=
n.3368G=
n.3897C=
n.4159C=
c.4074G= (p.Lys1358=)
c.3684G= (p.Lys1228=)
c.169+1344C= (n.169+1344C=)
c.*124+1143C= (n.*124+1143C=)
c.*3421G= (n.*3421G=)
n.3059C=
c.3168G= (p.Lys1056=)
c.975G= (p.Lys325=)
c.3891G= (p.Lys1297=)
c.4167G= (p.Lys1389=)
c.3984G= (p.Lys1328=)
c.3870G= (p.Lys1290=)
c.3261G= (p.Lys1087=)
2g.47806851G>TCA072859FBXO11,MSH6c.3777G>T (p.Lys1259Asn)
c.3690G>T (p.Lys1230Asn)
n.4748G>T
c.2508G>T (p.Lys836Asn)
c.4080G>T (p.Lys1360Asn)
c.1529G>T (n.1529G>T)
c.2847G>T (p.Lys949Asn)
n.3052G>T
n.2669G>T
n.2336G>T
n.2738G>T
n.1483G>T
n.3368G>T
n.3897C>A
n.4159C>A
c.4074G>T (p.Lys1358Asn)
c.3684G>T (p.Lys1228Asn)
c.169+1344C>A (n.169+1344C>A)
c.*124+1143C>A (n.*124+1143C>A)
c.*3421G>T (n.*3421G>T)
n.3059C>A
c.3168G>T (p.Lys1056Asn)
c.975G>T (p.Lys325Asn)
c.3891G>T (p.Lys1297Asn)
c.4167G>T (p.Lys1389Asn)
c.3984G>T (p.Lys1328Asn)
c.3870G>T (p.Lys1290Asn)
c.3261G>T (p.Lys1087Asn)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.47806851_47806852insAATTCA46720461FBXO11,MSH6c.3777_3778insAATT (p.Glu1260AsnfsTer2)
c.3690_3691insAATT (p.Glu1231AsnfsTer2)
n.4748_4749insAATT
c.2508_2509insAATT (p.Glu837AsnfsTer2)
c.4080_4081insAATT (p.Glu1361AsnfsTer2)
c.1529_1530insAATT (n.1529_1530insAATT)
c.2847_2848insAATT (p.Glu950AsnfsTer2)
n.3052_3053insAATT
n.2669_2670insAATT
n.2336_2337insAATT
n.2738_2739insAATT
n.1483_1484insAATT
n.3368_3369insAATT
n.3896_3897insAATT
n.4158_4159insAATT
c.4074_4075insAATT (p.Glu1359AsnfsTer2)
c.3684_3685insAATT (p.Glu1229AsnfsTer2)
c.169+1343_169+1344insAATT (n.169+1343_169+1344insAATT)
c.*124+1142_*124+1143insAATT (n.*124+1142_*124+1143insAATT)
c.*3421_*3422insAATT (n.*3421_*3422insAATT)
n.3058_3059insAATT
c.3168_3169insAATT (p.Glu1057AsnfsTer2)
c.975_976insAATT (p.Glu326AsnfsTer2)
c.3891_3892insAATT (p.Glu1298AsnfsTer2)
c.4167_4168insAATT (p.Glu1390AsnfsTer2)
c.3984_3985insAATT (p.Glu1329AsnfsTer2)
c.3870_3871insAATT (p.Glu1291AsnfsTer2)
c.3261_3262insAATT (p.Glu1088AsnfsTer2)
2g.47806852G>ACA015469FBXO11,MSH6c.3778G>A (p.Glu1260Lys)
c.3691G>A (p.Glu1231Lys)
n.4749G>A
c.2509G>A (p.Glu837Lys)
c.4081G>A (p.Glu1361Lys)
c.1530G>A (n.1530G>A)
c.2848G>A (p.Glu950Lys)
n.3053G>A
n.2670G>A
n.2337G>A
n.2739G>A
n.1484G>A
n.3369G>A
n.3896C>T
n.4158C>T
c.4075G>A (p.Glu1359Lys)
c.3685G>A (p.Glu1229Lys)
c.169+1343C>T (n.169+1343C>T)
c.*124+1142C>T (n.*124+1142C>T)
c.*3422G>A (n.*3422G>A)
n.3058C>T
c.3169G>A (p.Glu1057Lys)
c.976G>A (p.Glu326Lys)
c.3892G>A (p.Glu1298Lys)
c.4168G>A (p.Glu1390Lys)
c.3985G>A (p.Glu1329Lys)
c.3871G>A (p.Glu1291Lys)
c.3262G>A (p.Glu1088Lys)
ClinVar dbSNP gnomAD v4
2g.47806852G>CCA346761764FBXO11,MSH6c.3778G>C (p.Glu1260Gln)
c.3691G>C (p.Glu1231Gln)
n.4749G>C
c.2509G>C (p.Glu837Gln)
c.4081G>C (p.Glu1361Gln)
c.1530G>C (n.1530G>C)
c.2848G>C (p.Glu950Gln)
n.3053G>C
n.2670G>C
n.2337G>C
n.2739G>C
n.1484G>C
n.3369G>C
n.3896C>G
n.4158C>G
c.4075G>C (p.Glu1359Gln)
c.3685G>C (p.Glu1229Gln)
c.169+1343C>G (n.169+1343C>G)
c.*124+1142C>G (n.*124+1142C>G)
c.*3422G>C (n.*3422G>C)
n.3058C>G
c.3169G>C (p.Glu1057Gln)
c.976G>C (p.Glu326Gln)
c.3892G>C (p.Glu1298Gln)
c.4168G>C (p.Glu1390Gln)
c.3985G>C (p.Glu1329Gln)
c.3871G>C (p.Glu1291Gln)
c.3262G>C (p.Glu1088Gln)
dbSNP
2g.47806852G=CA2496054605FBXO11,MSH6c.3778G= (p.Glu1260=)
c.3691G= (p.Glu1231=)
n.4749G=
c.2509G= (p.Glu837=)
c.4081G= (p.Glu1361=)
c.1530G= (n.1530G=)
c.2848G= (p.Glu950=)
n.3053G=
n.2670G=
n.2337G=
n.2739G=
n.1484G=
n.3369G=
n.3896C=
n.4158C=
c.4075G= (p.Glu1359=)
c.3685G= (p.Glu1229=)
c.169+1343C= (n.169+1343C=)
c.*124+1142C= (n.*124+1142C=)
c.*3422G= (n.*3422G=)
n.3058C=
c.3169G= (p.Glu1057=)
c.976G= (p.Glu326=)
c.3892G= (p.Glu1298=)
c.4168G= (p.Glu1390=)
c.3985G= (p.Glu1329=)
c.3871G= (p.Glu1291=)
c.3262G= (p.Glu1088=)
2g.47806852G>TCA46720457FBXO11,MSH6c.3778G>T (p.Glu1260Ter)
c.3691G>T (p.Glu1231Ter)
n.4749G>T
c.2509G>T (p.Glu837Ter)
c.4081G>T (p.Glu1361Ter)
c.1530G>T (n.1530G>T)
c.2848G>T (p.Glu950Ter)
n.3053G>T
n.2670G>T
n.2337G>T
n.2739G>T
n.1484G>T
n.3369G>T
n.3896C>A
n.4158C>A
c.4075G>T (p.Glu1359Ter)
c.3685G>T (p.Glu1229Ter)
c.169+1343C>A (n.169+1343C>A)
c.*124+1142C>A (n.*124+1142C>A)
c.*3422G>T (n.*3422G>T)
n.3058C>A
c.3169G>T (p.Glu1057Ter)
c.976G>T (p.Glu326Ter)
c.3892G>T (p.Glu1298Ter)
c.4168G>T (p.Glu1390Ter)
c.3985G>T (p.Glu1329Ter)
c.3871G>T (p.Glu1291Ter)
c.3262G>T (p.Glu1088Ter)
ClinVar dbSNP gnomAD v4 COSMIC
2g.47806853A=CA2496054606FBXO11,MSH6c.3779A= (p.Glu1260=)
c.3692A= (p.Glu1231=)
n.4750A=
c.2510A= (p.Glu837=)
c.4082A= (p.Glu1361=)
c.1531A= (n.1531A=)
c.2849A= (p.Glu950=)
n.3054A=
n.2671A=
n.2338A=
n.2740A=
n.1485A=
n.3370A=
n.3895T=
n.4157T=
c.4076A= (p.Glu1359=)
c.3686A= (p.Glu1229=)
c.169+1342T= (n.169+1342T=)
c.*124+1141T= (n.*124+1141T=)
c.*3423A= (n.*3423A=)
n.3057T=
c.3170A= (p.Glu1057=)
c.977A= (p.Glu326=)
c.3893A= (p.Glu1298=)
c.4169A= (p.Glu1390=)
c.3986A= (p.Glu1329=)
c.3872A= (p.Glu1291=)
c.3263A= (p.Glu1088=)
2g.47806853A>CCA346761767FBXO11,MSH6c.3779A>C (p.Glu1260Ala)
c.3692A>C (p.Glu1231Ala)
n.4750A>C
c.2510A>C (p.Glu837Ala)
c.4082A>C (p.Glu1361Ala)
c.1531A>C (n.1531A>C)
c.2849A>C (p.Glu950Ala)
n.3054A>C
n.2671A>C
n.2338A>C
n.2740A>C
n.1485A>C
n.3370A>C
n.3895T>G
n.4157T>G
c.4076A>C (p.Glu1359Ala)
c.3686A>C (p.Glu1229Ala)
c.169+1342T>G (n.169+1342T>G)
c.*124+1141T>G (n.*124+1141T>G)
c.*3423A>C (n.*3423A>C)
n.3057T>G
c.3170A>C (p.Glu1057Ala)
c.977A>C (p.Glu326Ala)
c.3893A>C (p.Glu1298Ala)
c.4169A>C (p.Glu1390Ala)
c.3986A>C (p.Glu1329Ala)
c.3872A>C (p.Glu1291Ala)
c.3263A>C (p.Glu1088Ala)
ClinVar
2g.47806853A>GCA346761766FBXO11,MSH6c.3779A>G (p.Glu1260Gly)
c.3692A>G (p.Glu1231Gly)
n.4750A>G
c.2510A>G (p.Glu837Gly)
c.4082A>G (p.Glu1361Gly)
c.1531A>G (n.1531A>G)
c.2849A>G (p.Glu950Gly)
n.3054A>G
n.2671A>G
n.2338A>G
n.2740A>G
n.1485A>G
n.3370A>G
n.3895T>C
n.4157T>C
c.4076A>G (p.Glu1359Gly)
c.3686A>G (p.Glu1229Gly)
c.169+1342T>C (n.169+1342T>C)
c.*124+1141T>C (n.*124+1141T>C)
c.*3423A>G (n.*3423A>G)
n.3057T>C
c.3170A>G (p.Glu1057Gly)
c.977A>G (p.Glu326Gly)
c.3893A>G (p.Glu1298Gly)
c.4169A>G (p.Glu1390Gly)
c.3986A>G (p.Glu1329Gly)
c.3872A>G (p.Glu1291Gly)
c.3263A>G (p.Glu1088Gly)
2g.47806853A>TCA346761765FBXO11,MSH6c.3779A>T (p.Glu1260Val)
c.3692A>T (p.Glu1231Val)
n.4750A>T
c.2510A>T (p.Glu837Val)
c.4082A>T (p.Glu1361Val)
c.1531A>T (n.1531A>T)
c.2849A>T (p.Glu950Val)
n.3054A>T
n.2671A>T
n.2338A>T
n.2740A>T
n.1485A>T
n.3370A>T
n.3895T>A
n.4157T>A
c.4076A>T (p.Glu1359Val)
c.3686A>T (p.Glu1229Val)
c.169+1342T>A (n.169+1342T>A)
c.*124+1141T>A (n.*124+1141T>A)
c.*3423A>T (n.*3423A>T)
n.3057T>A
c.3170A>T (p.Glu1057Val)
c.977A>T (p.Glu326Val)
c.3893A>T (p.Glu1298Val)
c.4169A>T (p.Glu1390Val)
c.3986A>T (p.Glu1329Val)
c.3872A>T (p.Glu1291Val)
c.3263A>T (p.Glu1088Val)
2g.47806854_47806857dupCA168712FBXO11,MSH6c.3780_3783dup (p.Ter1262IleextTer4)
c.3693_3696dup (p.Ter1233IleextTer4)
n.4751_4754dup
c.2511_2514dup (p.Ter839IleextTer4)
c.4083_4086dup (p.Ter1363IleextTer4)
c.1532_1535dup (n.1532_1535dup)
c.2850_2853dup (p.Ter952IleextTer4)
n.3055_3058dup
n.2672_2675dup
n.2339_2342dup
n.2741_2744dup
n.1486_1489dup
n.3371_3374dup
n.3892_3895dup
n.4154_4157dup
c.4077_4080dup (p.Ter1361IleextTer4)
c.3687_3690dup (p.Ter1231IleextTer4)
c.169+1339_169+1342dup (n.169+1339_169+1342dup)
c.*124+1138_*124+1141dup (n.*124+1138_*124+1141dup)
c.*3424_*3427dup (n.*3424_*3427dup)
n.3054_3057dup
c.3171_3174dup (p.Ter1059IleextTer4)
c.978_981dup (p.Ter328IleextTer4)
c.3894_3897dup (p.Ter1300IleextTer4)
c.4170_4173dup (p.Ter1392IleextTer4)
c.3987_3990dup (p.Ter1331IleextTer4)
c.3873_3876dup (p.Ter1293IleextTer4)
c.3264_3267dup (p.Ter1090IleextTer4)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.47806853_47806854insGGACCCA2699336783FBXO11,MSH6c.3779_3780insGGACC (p.Leu1261AspfsTer13)
c.3692_3693insGGACC (p.Leu1232AspfsTer13)
n.4750_4751insGGACC
c.2510_2511insGGACC (p.Leu838AspfsTer13)
c.4082_4083insGGACC (p.Leu1362AspfsTer13)
c.1531_1532insGGACC (n.1531_1532insGGACC)
c.2849_2850insGGACC (p.Leu951AspfsTer13)
n.3054_3055insGGACC
n.2671_2672insGGACC
n.2338_2339insGGACC
n.2740_2741insGGACC
n.1485_1486insGGACC
n.3370_3371insGGACC
n.3894_3895insGGTCC
n.4156_4157insGGTCC
c.4076_4077insGGACC (p.Leu1360AspfsTer13)
c.3686_3687insGGACC (p.Leu1230AspfsTer13)
c.169+1341_169+1342insGGTCC (n.169+1341_169+1342insGGTCC)
c.*124+1140_*124+1141insGGTCC (n.*124+1140_*124+1141insGGTCC)
c.*3423_*3424insGGACC (n.*3423_*3424insGGACC)
n.3056_3057insGGTCC
c.3170_3171insGGACC (p.Leu1058AspfsTer13)
c.977_978insGGACC (p.Leu327AspfsTer13)
c.3893_3894insGGACC (p.Leu1299AspfsTer13)
c.4169_4170insGGACC (p.Leu1391AspfsTer13)
c.3986_3987insGGACC (p.Leu1330AspfsTer13)
c.3872_3873insGGACC (p.Leu1292AspfsTer13)
c.3263_3264insGGACC (p.Leu1089AspfsTer13)
dbSNP
2g.47806854A>CCA346761769FBXO11,MSH6c.3780A>C (p.Glu1260Asp)
c.3693A>C (p.Glu1231Asp)
n.4751A>C
c.2511A>C (p.Glu837Asp)
c.4083A>C (p.Glu1361Asp)
c.1532A>C (n.1532A>C)
c.2850A>C (p.Glu950Asp)
n.3055A>C
n.2672A>C
n.2339A>C
n.2741A>C
n.1486A>C
n.3371A>C
n.3894T>G
n.4156T>G
c.4077A>C (p.Glu1359Asp)
c.3687A>C (p.Glu1229Asp)
c.169+1341T>G (n.169+1341T>G)
c.*124+1140T>G (n.*124+1140T>G)
c.*3424A>C (n.*3424A>C)
n.3056T>G
c.3171A>C (p.Glu1057Asp)
c.978A>C (p.Glu326Asp)
c.3894A>C (p.Glu1298Asp)
c.4170A>C (p.Glu1390Asp)
c.3987A>C (p.Glu1329Asp)
c.3873A>C (p.Glu1291Asp)
c.3264A>C (p.Glu1088Asp)
2g.47806854A>GCA425998815FBXO11,MSH6c.3780A>G (p.Glu1260=)
c.3693A>G (p.Glu1231=)
n.4751A>G
c.2511A>G (p.Glu837=)
c.4083A>G (p.Glu1361=)
c.1532A>G (n.1532A>G)
c.2850A>G (p.Glu950=)
n.3055A>G
n.2672A>G
n.2339A>G
n.2741A>G
n.1486A>G
n.3371A>G
n.3894T>C
n.4156T>C
c.4077A>G (p.Glu1359=)
c.3687A>G (p.Glu1229=)
c.169+1341T>C (n.169+1341T>C)
c.*124+1140T>C (n.*124+1140T>C)
c.*3424A>G (n.*3424A>G)
n.3056T>C
c.3171A>G (p.Glu1057=)
c.978A>G (p.Glu326=)
c.3894A>G (p.Glu1298=)
c.4170A>G (p.Glu1390=)
c.3987A>G (p.Glu1329=)
c.3873A>G (p.Glu1291=)
c.3264A>G (p.Glu1088=)
ClinVar dbSNP
2g.47806854A>TCA346761768FBXO11,MSH6c.3780A>T (p.Glu1260Asp)
c.3693A>T (p.Glu1231Asp)
n.4751A>T
c.2511A>T (p.Glu837Asp)
c.4083A>T (p.Glu1361Asp)
c.1532A>T (n.1532A>T)
c.2850A>T (p.Glu950Asp)
n.3055A>T
n.2672A>T
n.2339A>T
n.2741A>T
n.1486A>T
n.3371A>T
n.3894T>A
n.4156T>A
c.4077A>T (p.Glu1359Asp)
c.3687A>T (p.Glu1229Asp)
c.169+1341T>A (n.169+1341T>A)
c.*124+1140T>A (n.*124+1140T>A)
c.*3424A>T (n.*3424A>T)
n.3056T>A
c.3171A>T (p.Glu1057Asp)
c.978A>T (p.Glu326Asp)
c.3894A>T (p.Glu1298Asp)
c.4170A>T (p.Glu1390Asp)
c.3987A>T (p.Glu1329Asp)
c.3873A>T (p.Glu1291Asp)
c.3264A>T (p.Glu1088Asp)
ClinVar dbSNP
2g.47806854_47806855insATTACA2586964969FBXO11,MSH6c.3780_3781insATTA (p.Leu1261IlefsTer5)
c.3693_3694insATTA (p.Leu1232IlefsTer5)
n.4751_4752insATTA
c.2511_2512insATTA (p.Leu838IlefsTer5)
c.4083_4084insATTA (p.Leu1362IlefsTer5)
c.1532_1533insATTA (n.1532_1533insATTA)
c.2850_2851insATTA (p.Leu951IlefsTer5)
n.3055_3056insATTA
n.2672_2673insATTA
n.2339_2340insATTA
n.2741_2742insATTA
n.1486_1487insATTA
n.3371_3372insATTA
n.3894_3895insAATT
n.4156_4157insAATT
c.4077_4078insATTA (p.Leu1360IlefsTer5)
c.3687_3688insATTA (p.Leu1230IlefsTer5)
c.169+1341_169+1342insAATT (n.169+1341_169+1342insAATT)
c.*124+1140_*124+1141insAATT (n.*124+1140_*124+1141insAATT)
c.*3424_*3425insATTA (n.*3424_*3425insATTA)
n.3056_3057insAATT
c.3171_3172insATTA (p.Leu1058IlefsTer5)
c.978_979insATTA (p.Leu327IlefsTer5)
c.3894_3895insATTA (p.Leu1299IlefsTer5)
c.4170_4171insATTA (p.Leu1391IlefsTer5)
c.3987_3988insATTA (p.Leu1330IlefsTer5)
c.3873_3874insATTA (p.Leu1292IlefsTer5)
c.3264_3265insATTA (p.Leu1089IlefsTer5)
2g.47806856_47806858dupCA16617728FBXO11,MSH6c.3782_3784dup (p.Ter1262LeufsTer2)
c.3695_3697dup (p.Ter1233LeufsTer2)
n.4753_4755dup
c.2513_2515dup (p.Ter839LeufsTer2)
c.4085_4087dup (p.Ter1363LeufsTer2)
c.1534_1536dup (n.1534_1536dup)
c.2852_2854dup (p.Ter952LeufsTer2)
n.3057_3059dup
n.2674_2676dup
n.2341_2343dup
n.2743_2745dup
n.1488_1490dup
n.3373_3375dup
n.3892_3894dup
n.4154_4156dup
c.4079_4081dup (p.Ter1361LeufsTer2)
c.3689_3691dup (p.Ter1231LeufsTer2)
c.169+1339_169+1341dup (n.169+1339_169+1341dup)
c.*124+1138_*124+1140dup (n.*124+1138_*124+1140dup)
c.*3426_*3428dup (n.*3426_*3428dup)
n.3054_3056dup
c.3173_3175dup (p.Ter1059LeufsTer2)
c.980_982dup (p.Ter328LeufsTer2)
c.3896_3898dup (p.Ter1300LeufsTer2)
c.4172_4174dup (p.Ter1392LeufsTer2)
c.3989_3991dup (p.Ter1331LeufsTer2)
c.3875_3877dup (p.Ter1293LeufsTer2)
c.3266_3268dup (p.Ter1090LeufsTer2)
ClinVar dbSNP
2g.47806854_47806878delinsATTATAGACTGACTACATTGGAAGCCA2496054607FBXO11,MSH6c.3780_*18delinsATTATAGACTGACTACATTGGAAGC (n.[c.3780_*18delinsATTATAGACTGACTACATTGGAAGC;Glu1260=])
c.3693_*18delinsATTATAGACTGACTACATTGGAAGC (n.[c.3693_*18delinsATTATAGACTGACTACATTGGAAGC;Glu1231=])
n.4751_4775delinsATTATAGACTGACTACATTGGAAGC
c.2511_*18delinsATTATAGACTGACTACATTGGAAGC (n.[c.2511_*18delinsATTATAGACTGACTACATTGGAAGC;Glu837=])
c.4083_*18delinsATTATAGACTGACTACATTGGAAGC (n.[c.4083_*18delinsATTATAGACTGACTACATTGGAAGC;Glu1361=])
c.1532_1556delinsATTATAGACTGACTACATTGGAAGC (n.1532_1556delinsATTATAGACTGACTACATTGGAAGC)
c.2850_2874delinsATTATAGACTGACTACATTGGAAGC (n.[c.2850_2874delinsATTATAGACTGACTACATTGGAAGC;Glu950=])
n.2672_2696delinsATTATAGACTGACTACATTGGAAGC
n.2339_2363delinsATTATAGACTGACTACATTGGAAGC
n.2741_2765delinsATTATAGACTGACTACATTGGAAGC
n.1486_1510delinsATTATAGACTGACTACATTGGAAGC
n.3371_3395delinsATTATAGACTGACTACATTGGAAGC
n.3870_3894delinsGCTTCCAATGTAGTCAGTCTATAAT
n.4132_4156delinsGCTTCCAATGTAGTCAGTCTATAAT
c.4077_*18delinsATTATAGACTGACTACATTGGAAGC (n.[c.4077_*18delinsATTATAGACTGACTACATTGGAAGC;Glu1359=])
c.3687_*18delinsATTATAGACTGACTACATTGGAAGC (n.[c.3687_*18delinsATTATAGACTGACTACATTGGAAGC;Glu1229=])
c.169+1317_169+1341delinsGCTTCCAATGTAGTCAGTCTATAAT (n.169+1317_169+1341delinsGCTTCCAATGTAGTCAGTCTATAAT)
c.*124+1116_*124+1140delinsGCTTCCAATGTAGTCAGTCTATAAT (n.*124+1116_*124+1140delinsGCTTCCAATGTAGTCAGTCTATAAT)
c.*3424_*3448delinsATTATAGACTGACTACATTGGAAGC (n.*3424_*3448delinsATTATAGACTGACTACATTGGAAGC)
n.3032_3056delinsGCTTCCAATGTAGTCAGTCTATAAT
c.3171_*18delinsATTATAGACTGACTACATTGGAAGC (n.[c.3171_*18delinsATTATAGACTGACTACATTGGAAGC;Glu1057=])
c.978_*18delinsATTATAGACTGACTACATTGGAAGC (n.[c.978_*18delinsATTATAGACTGACTACATTGGAAGC;Glu326=])
c.3894_*18delinsATTATAGACTGACTACATTGGAAGC (n.[c.3894_*18delinsATTATAGACTGACTACATTGGAAGC;Glu1298=])
c.4170_*18delinsATTATAGACTGACTACATTGGAAGC (n.[c.4170_*18delinsATTATAGACTGACTACATTGGAAGC;Glu1390=])
c.3987_*18delinsATTATAGACTGACTACATTGGAAGC (n.[c.3987_*18delinsATTATAGACTGACTACATTGGAAGC;Glu1329=])
c.3873_*18delinsATTATAGACTGACTACATTGGAAGC (n.[c.3873_*18delinsATTATAGACTGACTACATTGGAAGC;Glu1291=])
c.3264_*18delinsATTATAGACTGACTACATTGGAAGC (n.[c.3264_*18delinsATTATAGACTGACTACATTGGAAGC;Glu1088=])
2g.47806855T>ACA346761770FBXO11,MSH6c.3781T>A (p.Leu1261Ile)
c.3694T>A (p.Leu1232Ile)
n.4752T>A
c.2512T>A (p.Leu838Ile)
c.4084T>A (p.Leu1362Ile)
c.1533T>A (n.1533T>A)
c.2851T>A (p.Leu951Ile)
n.3056T>A
n.2673T>A
n.2340T>A
n.2742T>A
n.1487T>A
n.3372T>A
n.3893A>T
n.4155A>T
c.4078T>A (p.Leu1360Ile)
c.3688T>A (p.Leu1230Ile)
c.169+1340A>T (n.169+1340A>T)
c.*124+1139A>T (n.*124+1139A>T)
c.*3425T>A (n.*3425T>A)
n.3055A>T
c.3172T>A (p.Leu1058Ile)
c.979T>A (p.Leu327Ile)
c.3895T>A (p.Leu1299Ile)
c.4171T>A (p.Leu1391Ile)
c.3988T>A (p.Leu1330Ile)
c.3874T>A (p.Leu1292Ile)
c.3265T>A (p.Leu1089Ile)
dbSNP
2g.47806855T>CCA425998818FBXO11,MSH6c.3781T>C (p.Leu1261=)
c.3694T>C (p.Leu1232=)
n.4752T>C
c.2512T>C (p.Leu838=)
c.4084T>C (p.Leu1362=)
c.1533T>C (n.1533T>C)
c.2851T>C (p.Leu951=)
n.3056T>C
n.2673T>C
n.2340T>C
n.2742T>C
n.1487T>C
n.3372T>C
n.3893A>G
n.4155A>G
c.4078T>C (p.Leu1360=)
c.3688T>C (p.Leu1230=)
c.169+1340A>G (n.169+1340A>G)
c.*124+1139A>G (n.*124+1139A>G)
c.*3425T>C (n.*3425T>C)
n.3055A>G
c.3172T>C (p.Leu1058=)
c.979T>C (p.Leu327=)
c.3895T>C (p.Leu1299=)
c.4171T>C (p.Leu1391=)
c.3988T>C (p.Leu1330=)
c.3874T>C (p.Leu1292=)
c.3265T>C (p.Leu1089=)
ClinVar dbSNP
2g.47806855T>GCA346761771FBXO11,MSH6c.3781T>G (p.Leu1261Val)
c.3694T>G (p.Leu1232Val)
n.4752T>G
c.2512T>G (p.Leu838Val)
c.4084T>G (p.Leu1362Val)
c.1533T>G (n.1533T>G)
c.2851T>G (p.Leu951Val)
n.3056T>G
n.2673T>G
n.2340T>G
n.2742T>G
n.1487T>G
n.3372T>G
n.3893A>C
n.4155A>C
c.4078T>G (p.Leu1360Val)
c.3688T>G (p.Leu1230Val)
c.169+1340A>C (n.169+1340A>C)
c.*124+1139A>C (n.*124+1139A>C)
c.*3425T>G (n.*3425T>G)
n.3055A>C
c.3172T>G (p.Leu1058Val)
c.979T>G (p.Leu327Val)
c.3895T>G (p.Leu1299Val)
c.4171T>G (p.Leu1391Val)
c.3988T>G (p.Leu1330Val)
c.3874T>G (p.Leu1292Val)
c.3265T>G (p.Leu1089Val)
2g.47806855T=CA2496054609FBXO11,MSH6c.3781T= (p.Leu1261=)
c.3694T= (p.Leu1232=)
n.4752T=
c.2512T= (p.Leu838=)
c.4084T= (p.Leu1362=)
c.1533T= (n.1533T=)
c.2851T= (p.Leu951=)
n.3056T=
n.2673T=
n.2340T=
n.2742T=
n.1487T=
n.3372T=
n.3893A=
n.4155A=
c.4078T= (p.Leu1360=)
c.3688T= (p.Leu1230=)
c.169+1340A= (n.169+1340A=)
c.*124+1139A= (n.*124+1139A=)
c.*3425T= (n.*3425T=)
n.3055A=
c.3172T= (p.Leu1058=)
c.979T= (p.Leu327=)
c.3895T= (p.Leu1299=)
c.4171T= (p.Leu1391=)
c.3988T= (p.Leu1330=)
c.3874T= (p.Leu1292=)
c.3265T= (p.Leu1089=)
2g.47806855_47806857delinsTTACA2496054608FBXO11,MSH6c.3781_3783delinsTTA (p.Leu1261=)
c.3694_3696delinsTTA (p.Leu1232=)
n.4752_4754delinsTTA
c.2512_2514delinsTTA (p.Leu838=)
c.4084_4086delinsTTA (p.Leu1362=)
c.1533_1535delinsTTA (n.1533_1535delinsTTA)
c.2851_2853delinsTTA (p.Leu951=)
n.3056_3058delinsTTA
n.2673_2675delinsTTA
n.2340_2342delinsTTA
n.2742_2744delinsTTA
n.1487_1489delinsTTA
n.3372_3374delinsTTA
n.3891_3893delinsTAA
n.4153_4155delinsTAA
c.4078_4080delinsTTA (p.Leu1360=)
c.3688_3690delinsTTA (p.Leu1230=)
c.169+1338_169+1340delinsTAA (n.169+1338_169+1340delinsTAA)
c.*124+1137_*124+1139delinsTAA (n.*124+1137_*124+1139delinsTAA)
c.*3425_*3427delinsTTA (n.*3425_*3427delinsTTA)
n.3053_3055delinsTAA
c.3172_3174delinsTTA (p.Leu1058=)
c.979_981delinsTTA (p.Leu327=)
c.3895_3897delinsTTA (p.Leu1299=)
c.4171_4173delinsTTA (p.Leu1391=)
c.3988_3990delinsTTA (p.Leu1330=)
c.3874_3876delinsTTA (p.Leu1292=)
c.3265_3267delinsTTA (p.Leu1089=)
2g.47806857_47806880delCA165406FBXO11,MSH6c.3783_*20del (n.[c.3783_*20del;Leu1261PhefsTer23])
c.3696_*20del (n.[c.3696_*20del;Leu1232PhefsTer?])
n.4754_4777del
c.2514_*20del (n.[c.2514_*20del;Leu838PhefsTer?])
c.4086_*20del (n.[c.4086_*20del;Leu1362PhefsTer?])
c.1535_1558del (n.1535_1558del)
c.2853_2876del (n.[c.2853_2876del;Leu951PhefsTer?])
n.2675_2698del
n.2342_2365del
n.2744_2767del
n.1489_1512del
n.3374_3397del
n.3870_3893del
n.4132_4155del
c.4080_*20del (n.[c.4080_*20del;Leu1360PhefsTer23])
c.3690_*20del (n.[c.3690_*20del;Leu1230PhefsTer?])
c.3783_*20del (n.[c.3783_*20del;Leu1261PhefsTer?])
c.169+1317_169+1340del (n.169+1317_169+1340del)
c.*124+1116_*124+1139del (n.*124+1116_*124+1139del)
c.*3427_*3450del (n.*3427_*3450del)
n.3032_3055del
c.3174_*20del (n.[c.3174_*20del;Leu1058PhefsTer?])
c.981_*20del (n.[c.981_*20del;Leu327PhefsTer23])
c.3690_*20del (n.[c.3690_*20del;Leu1230PhefsTer23])
c.3174_*20del (n.[c.3174_*20del;Leu1058PhefsTer23])
c.3897_*20del (n.[c.3897_*20del;Leu1299PhefsTer23])
c.4173_*20del (n.[c.4173_*20del;Leu1391PhefsTer23])
c.3990_*20del (n.[c.3990_*20del;Leu1330PhefsTer23])
c.3876_*20del (n.[c.3876_*20del;Leu1292PhefsTer23])
c.3267_*20del (n.[c.3267_*20del;Leu1089PhefsTer23])
ClinVar dbSNP
2g.47806856T>ACA346761772FBXO11,MSH6c.3782T>A (p.Leu1261Ter)
c.3695T>A (p.Leu1232Ter)
n.4753T>A
c.2513T>A (p.Leu838Ter)
c.4085T>A (p.Leu1362Ter)
c.1534T>A (n.1534T>A)
c.2852T>A (p.Leu951Ter)
n.3057T>A
n.2674T>A
n.2341T>A
n.2743T>A
n.1488T>A
n.3373T>A
n.3892A>T
n.4154A>T
c.4079T>A (p.Leu1360Ter)
c.3689T>A (p.Leu1230Ter)
c.169+1339A>T (n.169+1339A>T)
c.*124+1138A>T (n.*124+1138A>T)
c.*3426T>A (n.*3426T>A)
n.3054A>T
c.3173T>A (p.Leu1058Ter)
c.980T>A (p.Leu327Ter)
c.3896T>A (p.Leu1299Ter)
c.4172T>A (p.Leu1391Ter)
c.3989T>A (p.Leu1330Ter)
c.3875T>A (p.Leu1292Ter)
c.3266T>A (p.Leu1089Ter)
2g.47806856T>CCA346761773FBXO11,MSH6c.3782T>C (p.Leu1261Ser)
c.3695T>C (p.Leu1232Ser)
n.4753T>C
c.2513T>C (p.Leu838Ser)
c.4085T>C (p.Leu1362Ser)
c.1534T>C (n.1534T>C)
c.2852T>C (p.Leu951Ser)
n.3057T>C
n.2674T>C
n.2341T>C
n.2743T>C
n.1488T>C
n.3373T>C
n.3892A>G
n.4154A>G
c.4079T>C (p.Leu1360Ser)
c.3689T>C (p.Leu1230Ser)
c.169+1339A>G (n.169+1339A>G)
c.*124+1138A>G (n.*124+1138A>G)
c.*3426T>C (n.*3426T>C)
n.3054A>G
c.3173T>C (p.Leu1058Ser)
c.980T>C (p.Leu327Ser)
c.3896T>C (p.Leu1299Ser)
c.4172T>C (p.Leu1391Ser)
c.3989T>C (p.Leu1330Ser)
c.3875T>C (p.Leu1292Ser)
c.3266T>C (p.Leu1089Ser)
ClinVar
2g.47806856T>GCA346761774FBXO11,MSH6c.3782T>G (p.Leu1261Ter)
c.3695T>G (p.Leu1232Ter)
n.4753T>G
c.2513T>G (p.Leu838Ter)
c.4085T>G (p.Leu1362Ter)
c.1534T>G (n.1534T>G)
c.2852T>G (p.Leu951Ter)
n.3057T>G
n.2674T>G
n.2341T>G
n.2743T>G
n.1488T>G
n.3373T>G
n.3892A>C
n.4154A>C
c.4079T>G (p.Leu1360Ter)
c.3689T>G (p.Leu1230Ter)
c.169+1339A>C (n.169+1339A>C)
c.*124+1138A>C (n.*124+1138A>C)
c.*3426T>G (n.*3426T>G)
n.3054A>C
c.3173T>G (p.Leu1058Ter)
c.980T>G (p.Leu327Ter)
c.3896T>G (p.Leu1299Ter)
c.4172T>G (p.Leu1391Ter)
c.3989T>G (p.Leu1330Ter)
c.3875T>G (p.Leu1292Ter)
c.3266T>G (p.Leu1089Ter)
2g.47806858_47806859dupCA2658970591FBXO11,MSH6c.3784_3785dup (p.Ter1262TyrextTer11)
c.3697_3698dup (p.Ter1233TyrextTer11)
n.4755_4756dup
c.2515_2516dup (p.Ter839TyrextTer11)
c.4087_4088dup (p.Ter1363TyrextTer11)
c.1536_1537dup (n.1536_1537dup)
c.2854_2855dup (p.Ter952TyrextTer11)
n.3059_3060dup
n.2676_2677dup
n.2343_2344dup
n.2745_2746dup
n.1490_1491dup
n.3375_3376dup
n.3891_3892dup
n.4153_4154dup
c.4081_4082dup (p.Ter1361TyrextTer11)
c.3691_3692dup (p.Ter1231TyrextTer11)
c.169+1338_169+1339dup (n.169+1338_169+1339dup)
c.*124+1137_*124+1138dup (n.*124+1137_*124+1138dup)
c.*3428_*3429dup (n.*3428_*3429dup)
n.3053_3054dup
c.3175_3176dup (p.Ter1059TyrextTer11)
c.982_983dup (p.Ter328TyrextTer11)
c.3898_3899dup (p.Ter1300TyrextTer11)
c.4174_4175dup (p.Ter1392TyrextTer11)
c.3991_3992dup (p.Ter1331TyrextTer11)
c.3877_3878dup (p.Ter1293TyrextTer11)
c.3268_3269dup (p.Ter1090TyrextTer11)
gnomAD v4
2g.47806858_47806859delCA336708FBXO11,MSH6c.3784_3785del (p.Ter1262AspextTer2)
c.3697_3698del (p.Ter1233AspextTer2)
n.4755_4756del
c.2515_2516del (p.Ter839AspextTer2)
c.4087_4088del (p.Ter1363AspextTer2)
c.1536_1537del (n.1536_1537del)
c.2854_2855del (p.Ter952AspextTer2)
n.3059_3060del
n.2676_2677del
n.2343_2344del
n.2745_2746del
n.1490_1491del
n.3375_3376del
n.3891_3892del
n.4153_4154del
c.4081_4082del (p.Ter1361AspextTer2)
c.3691_3692del (p.Ter1231AspextTer2)
c.169+1338_169+1339del (n.169+1338_169+1339del)
c.*124+1137_*124+1138del (n.*124+1137_*124+1138del)
c.*3428_*3429del (n.*3428_*3429del)
n.3053_3054del
c.3175_3176del (p.Ter1059AspextTer2)
c.982_983del (p.Ter328AspextTer2)
c.3898_3899del (p.Ter1300AspextTer2)
c.4174_4175del (p.Ter1392AspextTer2)
c.3991_3992del (p.Ter1331AspextTer2)
c.3877_3878del (p.Ter1293AspextTer2)
c.3268_3269del (p.Ter1090AspextTer2)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.47806856_47806868dupCA2658970589FBXO11,MSH6c.3782_*8dup (n.3782_*8dup)
c.3695_*8dup (n.3695_*8dup)
n.4753_4765dup
c.2513_*8dup (n.2513_*8dup)
c.4085_*8dup (n.4085_*8dup)
c.1534_1546dup (n.1534_1546dup)
c.2852_2864dup (n.2852_2864dup)
n.2674_2686dup
n.2341_2353dup
n.2743_2755dup
n.1488_1500dup
n.3373_3385dup
n.3880_3892dup
n.4142_4154dup
c.4079_*8dup (n.4079_*8dup)
c.3689_*8dup (n.3689_*8dup)
c.169+1327_169+1339dup (n.169+1327_169+1339dup)
c.*124+1126_*124+1138dup (n.*124+1126_*124+1138dup)
c.*3426_*3438dup (n.*3426_*3438dup)
n.3042_3054dup
c.3173_*8dup (n.3173_*8dup)
c.980_*8dup (n.980_*8dup)
c.3896_*8dup (n.3896_*8dup)
c.4172_*8dup (n.4172_*8dup)
c.3989_*8dup (n.3989_*8dup)
c.3875_*8dup (n.3875_*8dup)
c.3266_*8dup (n.3266_*8dup)
gnomAD v4
2g.47806856_47806869delinsTATAGACTGACTACCA2496054610FBXO11,MSH6c.3782_*9delinsTATAGACTGACTAC (n.[c.3782_*9delinsTATAGACTGACTAC;Leu1261=])
c.3695_*9delinsTATAGACTGACTAC (n.[c.3695_*9delinsTATAGACTGACTAC;Leu1232=])
n.4753_4766delinsTATAGACTGACTAC
c.2513_*9delinsTATAGACTGACTAC (n.[c.2513_*9delinsTATAGACTGACTAC;Leu838=])
c.4085_*9delinsTATAGACTGACTAC (n.[c.4085_*9delinsTATAGACTGACTAC;Leu1362=])
c.1534_1547delinsTATAGACTGACTAC (n.1534_1547delinsTATAGACTGACTAC)
c.2852_2865delinsTATAGACTGACTAC (n.[c.2852_2865delinsTATAGACTGACTAC;Leu951=])
n.2674_2687delinsTATAGACTGACTAC
n.2341_2354delinsTATAGACTGACTAC
n.2743_2756delinsTATAGACTGACTAC
n.1488_1501delinsTATAGACTGACTAC
n.3373_3386delinsTATAGACTGACTAC
n.3879_3892delinsGTAGTCAGTCTATA
n.4141_4154delinsGTAGTCAGTCTATA
c.4079_*9delinsTATAGACTGACTAC (n.[c.4079_*9delinsTATAGACTGACTAC;Leu1360=])
c.3689_*9delinsTATAGACTGACTAC (n.[c.3689_*9delinsTATAGACTGACTAC;Leu1230=])
c.169+1326_169+1339delinsGTAGTCAGTCTATA (n.169+1326_169+1339delinsGTAGTCAGTCTATA)
c.*124+1125_*124+1138delinsGTAGTCAGTCTATA (n.*124+1125_*124+1138delinsGTAGTCAGTCTATA)
c.*3426_*3439delinsTATAGACTGACTAC (n.*3426_*3439delinsTATAGACTGACTAC)
n.3041_3054delinsGTAGTCAGTCTATA
c.3173_*9delinsTATAGACTGACTAC (n.[c.3173_*9delinsTATAGACTGACTAC;Leu1058=])
c.980_*9delinsTATAGACTGACTAC (n.[c.980_*9delinsTATAGACTGACTAC;Leu327=])
c.3896_*9delinsTATAGACTGACTAC (n.[c.3896_*9delinsTATAGACTGACTAC;Leu1299=])
c.4172_*9delinsTATAGACTGACTAC (n.[c.4172_*9delinsTATAGACTGACTAC;Leu1391=])
c.3989_*9delinsTATAGACTGACTAC (n.[c.3989_*9delinsTATAGACTGACTAC;Leu1330=])
c.3875_*9delinsTATAGACTGACTAC (n.[c.3875_*9delinsTATAGACTGACTAC;Leu1292=])
c.3266_*9delinsTATAGACTGACTAC (n.[c.3266_*9delinsTATAGACTGACTAC;Leu1089=])
2g.47806856_47806869dupCA913188083FBXO11,MSH6c.3782_*9dup (n.3782_*9dup)
c.3695_*9dup (n.3695_*9dup)
n.4753_4766dup
c.2513_*9dup (n.2513_*9dup)
c.4085_*9dup (n.4085_*9dup)
c.1534_1547dup (n.1534_1547dup)
c.2852_2865dup (n.2852_2865dup)
n.2674_2687dup
n.2341_2354dup
n.2743_2756dup
n.1488_1501dup
n.3373_3386dup
n.3879_3892dup
n.4141_4154dup
c.4079_*9dup (n.4079_*9dup)
c.3689_*9dup (n.3689_*9dup)
c.169+1326_169+1339dup (n.169+1326_169+1339dup)
c.*124+1125_*124+1138dup (n.*124+1125_*124+1138dup)
c.*3426_*3439dup (n.*3426_*3439dup)
n.3041_3054dup
c.3173_*9dup (n.3173_*9dup)
c.980_*9dup (n.980_*9dup)
c.3896_*9dup (n.3896_*9dup)
c.4172_*9dup (n.4172_*9dup)
c.3989_*9dup (n.3989_*9dup)
c.3875_*9dup (n.3875_*9dup)
c.3266_*9dup (n.3266_*9dup)
ClinVar dbSNP
2g.47806857A=CA2496054611FBXO11,MSH6c.3783A= (p.Leu1261=)
c.3696A= (p.Leu1232=)
n.4754A=
c.2514A= (p.Leu838=)
c.4086A= (p.Leu1362=)
c.1535A= (n.1535A=)
c.2853A= (p.Leu951=)
n.3058A=
n.2675A=
n.2342A=
n.2744A=
n.1489A=
n.3374A=
n.3891T=
n.4153T=
c.4080A= (p.Leu1360=)
c.3690A= (p.Leu1230=)
c.169+1338T= (n.169+1338T=)
c.*124+1137T= (n.*124+1137T=)
c.*3427A= (n.*3427A=)
n.3053T=
c.3174A= (p.Leu1058=)
c.981A= (p.Leu327=)
c.3897A= (p.Leu1299=)
c.4173A= (p.Leu1391=)
c.3990A= (p.Leu1330=)
c.3876A= (p.Leu1292=)
c.3267A= (p.Leu1089=)
2g.47806857A>CCA346761775FBXO11,MSH6c.3783A>C (p.Leu1261Phe)
c.3696A>C (p.Leu1232Phe)
n.4754A>C
c.2514A>C (p.Leu838Phe)
c.4086A>C (p.Leu1362Phe)
c.1535A>C (n.1535A>C)
c.2853A>C (p.Leu951Phe)
n.3058A>C
n.2675A>C
n.2342A>C
n.2744A>C
n.1489A>C
n.3374A>C
n.3891T>G
n.4153T>G
c.4080A>C (p.Leu1360Phe)
c.3690A>C (p.Leu1230Phe)
c.169+1338T>G (n.169+1338T>G)
c.*124+1137T>G (n.*124+1137T>G)
c.*3427A>C (n.*3427A>C)
n.3053T>G
c.3174A>C (p.Leu1058Phe)
c.981A>C (p.Leu327Phe)
c.3897A>C (p.Leu1299Phe)
c.4173A>C (p.Leu1391Phe)
c.3990A>C (p.Leu1330Phe)
c.3876A>C (p.Leu1292Phe)
c.3267A>C (p.Leu1089Phe)
2g.47806857A>GCA425998824FBXO11,MSH6c.3783A>G (p.Leu1261=)
c.3696A>G (p.Leu1232=)
n.4754A>G
c.2514A>G (p.Leu838=)
c.4086A>G (p.Leu1362=)
c.1535A>G (n.1535A>G)
c.2853A>G (p.Leu951=)
n.3058A>G
n.2675A>G
n.2342A>G
n.2744A>G
n.1489A>G
n.3374A>G
n.3891T>C
n.4153T>C
c.4080A>G (p.Leu1360=)
c.3690A>G (p.Leu1230=)
c.169+1338T>C (n.169+1338T>C)
c.*124+1137T>C (n.*124+1137T>C)
c.*3427A>G (n.*3427A>G)
n.3053T>C
c.3174A>G (p.Leu1058=)
c.981A>G (p.Leu327=)
c.3897A>G (p.Leu1299=)
c.4173A>G (p.Leu1391=)
c.3990A>G (p.Leu1330=)
c.3876A>G (p.Leu1292=)
c.3267A>G (p.Leu1089=)
dbSNP gnomAD v4
2g.47806857A>TCA346761776FBXO11,MSH6c.3783A>T (p.Leu1261Phe)
c.3696A>T (p.Leu1232Phe)
n.4754A>T
c.2514A>T (p.Leu838Phe)
c.4086A>T (p.Leu1362Phe)
c.1535A>T (n.1535A>T)
c.2853A>T (p.Leu951Phe)
n.3058A>T
n.2675A>T
n.2342A>T
n.2744A>T
n.1489A>T
n.3374A>T
n.3891T>A
n.4153T>A
c.4080A>T (p.Leu1360Phe)
c.3690A>T (p.Leu1230Phe)
c.169+1338T>A (n.169+1338T>A)
c.*124+1137T>A (n.*124+1137T>A)
c.*3427A>T (n.*3427A>T)
n.3053T>A
c.3174A>T (p.Leu1058Phe)
c.981A>T (p.Leu327Phe)
c.3897A>T (p.Leu1299Phe)
c.4173A>T (p.Leu1391Phe)
c.3990A>T (p.Leu1330Phe)
c.3876A>T (p.Leu1292Phe)
c.3267A>T (p.Leu1089Phe)
2g.47806859_47806871delCA16617729FBXO11,MSH6c.3785_*11del (n.[c.3785_*11del;Ter1262LeuextTer6])
c.3698_*11del (n.[c.3698_*11del;Ter1233LeuextTer6])
n.4756_4768del
c.2516_*11del (n.[c.2516_*11del;Ter839LeuextTer6])
c.4088_*11del (n.[c.4088_*11del;Ter1363LeuextTer6])
c.1537_1549del (n.1537_1549del)
c.2855_2867del (n.[c.2855_2867del;Ter952LeuextTer6])
n.2677_2689del
n.2344_2356del
n.2746_2758del
n.1491_1503del
n.3376_3388del
n.3879_3891del
n.4141_4153del
c.4082_*11del (n.[c.4082_*11del;Ter1361LeuextTer6])
c.3692_*11del (n.[c.3692_*11del;Ter1231LeuextTer6])
c.169+1326_169+1338del (n.169+1326_169+1338del)
c.*124+1125_*124+1137del (n.*124+1125_*124+1137del)
c.*3429_*3441del (n.*3429_*3441del)
n.3041_3053del
c.3176_*11del (n.[c.3176_*11del;Ter1059LeuextTer6])
c.983_*11del (n.[c.983_*11del;Ter328LeuextTer6])
c.3899_*11del (n.[c.3899_*11del;Ter1300LeuextTer6])
c.4175_*11del (n.[c.4175_*11del;Ter1392LeuextTer6])
c.3992_*11del (n.[c.3992_*11del;Ter1331LeuextTer6])
c.3878_*11del (n.[c.3878_*11del;Ter1293LeuextTer6])
c.3269_*11del (n.[c.3269_*11del;Ter1090LeuextTer6])
ClinVar dbSNP
2g.47806858T>ACA346761778FBXO11,MSH6c.3784T>A (p.Ter1262Lys)
c.3697T>A (p.Ter1233Lys)
n.4755T>A
c.2515T>A (p.Ter839Lys)
c.4087T>A (p.Ter1363Lys)
c.1536T>A (n.1536T>A)
c.2854T>A (p.Ter952Lys)
n.3059T>A
n.2676T>A
n.2343T>A
n.2745T>A
n.1490T>A
n.3375T>A
n.3890A>T
n.4152A>T
c.4081T>A (p.Ter1361Lys)
c.3691T>A (p.Ter1231Lys)
c.169+1337A>T (n.169+1337A>T)
c.*124+1136A>T (n.*124+1136A>T)
c.*3428T>A (n.*3428T>A)
n.3052A>T
c.3175T>A (p.Ter1059Lys)
c.982T>A (p.Ter328Lys)
c.3898T>A (p.Ter1300Lys)
c.4174T>A (p.Ter1392Lys)
c.3991T>A (p.Ter1331Lys)
c.3877T>A (p.Ter1293Lys)
c.3268T>A (p.Ter1090Lys)
dbSNP
2g.47806858T>CCA072869FBXO11,MSH6c.3784T>C (p.Ter1262Gln)
c.3697T>C (p.Ter1233Gln)
n.4755T>C
c.2515T>C (p.Ter839Gln)
c.4087T>C (p.Ter1363Gln)
c.1536T>C (n.1536T>C)
c.2854T>C (p.Ter952Gln)
n.3059T>C
n.2676T>C
n.2343T>C
n.2745T>C
n.1490T>C
n.3375T>C
n.3890A>G
n.4152A>G
c.4081T>C (p.Ter1361Gln)
c.3691T>C (p.Ter1231Gln)
c.169+1337A>G (n.169+1337A>G)
c.*124+1136A>G (n.*124+1136A>G)
c.*3428T>C (n.*3428T>C)
n.3052A>G
c.3175T>C (p.Ter1059Gln)
c.982T>C (p.Ter328Gln)
c.3898T>C (p.Ter1300Gln)
c.4174T>C (p.Ter1392Gln)
c.3991T>C (p.Ter1331Gln)
c.3877T>C (p.Ter1293Gln)
c.3268T>C (p.Ter1090Gln)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.47806858T>GCA346761777FBXO11,MSH6c.3784T>G (p.Ter1262Glu)
c.3697T>G (p.Ter1233Glu)
n.4755T>G
c.2515T>G (p.Ter839Glu)
c.4087T>G (p.Ter1363Glu)
c.1536T>G (n.1536T>G)
c.2854T>G (p.Ter952Glu)
n.3059T>G
n.2676T>G
n.2343T>G
n.2745T>G
n.1490T>G
n.3375T>G
n.3890A>C
n.4152A>C
c.4081T>G (p.Ter1361Glu)
c.3691T>G (p.Ter1231Glu)
c.169+1337A>C (n.169+1337A>C)
c.*124+1136A>C (n.*124+1136A>C)
c.*3428T>G (n.*3428T>G)
n.3052A>C
c.3175T>G (p.Ter1059Glu)
c.982T>G (p.Ter328Glu)
c.3898T>G (p.Ter1300Glu)
c.4174T>G (p.Ter1392Glu)
c.3991T>G (p.Ter1331Glu)
c.3877T>G (p.Ter1293Glu)
c.3268T>G (p.Ter1090Glu)
ClinVar
2g.47806858T=CA2496054612FBXO11,MSH6c.3784T= (p.Ter1262=)
c.3697T= (p.Ter1233=)
n.4755T=
c.2515T= (p.Ter839=)
c.4087T= (p.Ter1363=)
c.1536T= (n.1536T=)
c.2854T= (p.Ter952=)
n.3059T=
n.2676T=
n.2343T=
n.2745T=
n.1490T=
n.3375T=
n.3890A=
n.4152A=
c.4081T= (p.Ter1361=)
c.3691T= (p.Ter1231=)
c.169+1337A= (n.169+1337A=)
c.*124+1136A= (n.*124+1136A=)
c.*3428T= (n.*3428T=)
n.3052A=
c.3175T= (p.Ter1059=)
c.982T= (p.Ter328=)
c.3898T= (p.Ter1300=)
c.4174T= (p.Ter1392=)
c.3991T= (p.Ter1331=)
c.3877T= (p.Ter1293=)
c.3268T= (p.Ter1090=)
2g.47806858dupCA16610990FBXO11,MSH6c.3784dup (p.Ter1262LeuextTer3)
c.3697dup (p.Ter1233LeuextTer3)
n.4755dup
c.2515dup (p.Ter839LeuextTer3)
c.4087dup (p.Ter1363LeuextTer3)
c.1536dup (n.1536dup)
c.2854dup (p.Ter952LeuextTer3)
n.3059dup
n.2676dup
n.2343dup
n.2745dup
n.1490dup
n.3375dup
n.3890dup
n.4152dup
c.4081dup (p.Ter1361LeuextTer3)
c.3691dup (p.Ter1231LeuextTer3)
c.169+1337dup (n.169+1337dup)
c.*124+1136dup (n.*124+1136dup)
c.*3428dup (n.*3428dup)
n.3052dup
c.3175dup (p.Ter1059LeuextTer3)
c.982dup (p.Ter328LeuextTer3)
c.3898dup (p.Ter1300LeuextTer3)
c.4174dup (p.Ter1392LeuextTer3)
c.3991dup (p.Ter1331LeuextTer3)
c.3877dup (p.Ter1293LeuextTer3)
c.3268dup (p.Ter1090LeuextTer3)
ClinVar dbSNP
2g.47806858_47806859delinsTACA2496054613FBXO11,MSH6c.3784_3785delinsTA (p.Ter1262=)
c.3697_3698delinsTA (p.Ter1233=)
n.4755_4756delinsTA
c.2515_2516delinsTA (p.Ter839=)
c.4087_4088delinsTA (p.Ter1363=)
c.1536_1537delinsTA (n.1536_1537delinsTA)
c.2854_2855delinsTA (p.Ter952=)
n.3059_3060delinsTA
n.2676_2677delinsTA
n.2343_2344delinsTA
n.2745_2746delinsTA
n.1490_1491delinsTA
n.3375_3376delinsTA
n.3889_3890delinsTA
n.4151_4152delinsTA
c.4081_4082delinsTA (p.Ter1361=)
c.3691_3692delinsTA (p.Ter1231=)
c.169+1336_169+1337delinsTA (n.169+1336_169+1337delinsTA)
c.*124+1135_*124+1136delinsTA (n.*124+1135_*124+1136delinsTA)
c.*3428_*3429delinsTA (n.*3428_*3429delinsTA)
n.3051_3052delinsTA
c.3175_3176delinsTA (p.Ter1059=)
c.982_983delinsTA (p.Ter328=)
c.3898_3899delinsTA (p.Ter1300=)
c.4174_4175delinsTA (p.Ter1392=)
c.3991_3992delinsTA (p.Ter1331=)
c.3877_3878delinsTA (p.Ter1293=)
c.3268_3269delinsTA (p.Ter1090=)
2g.47806859_47806863dupCA913188084FBXO11,MSH6c.3785_*3dup (n.3785_*3dup)
c.3698_*3dup (n.3698_*3dup)
n.4756_4760dup
c.2516_*3dup (n.2516_*3dup)
c.4088_*3dup (n.4088_*3dup)
c.1537_1541dup (n.1537_1541dup)
c.2855_2859dup (n.2855_2859dup)
n.3060_3064dup
n.2677_2681dup
n.2344_2348dup
n.2746_2750dup
n.1491_1495dup
n.3376_3380dup
n.3886_3890dup
n.4148_4152dup
c.4082_*3dup (n.4082_*3dup)
c.3692_*3dup (n.3692_*3dup)
c.169+1333_169+1337dup (n.169+1333_169+1337dup)
c.*124+1132_*124+1136dup (n.*124+1132_*124+1136dup)
c.*3429_*3433dup (n.*3429_*3433dup)
n.3048_3052dup
c.3176_*3dup (n.3176_*3dup)
c.983_*3dup (n.983_*3dup)
c.3899_*3dup (n.3899_*3dup)
c.4175_*3dup (n.4175_*3dup)
c.3992_*3dup (n.3992_*3dup)
c.3878_*3dup (n.3878_*3dup)
c.3269_*3dup (n.3269_*3dup)
ClinVar dbSNP gnomAD v4
2g.47806859delCA658795769FBXO11,MSH6c.3785del (p.Ter1262=)
c.3698del (p.Ter1233=)
n.4756del
c.2516del (p.Ter839=)
c.4088del (p.Ter1363=)
c.1537del (n.1537del)
c.2855del (p.Ter952=)
n.3060del
n.2677del
n.2344del
n.2746del
n.1491del
n.3376del
n.3889del
n.4151del
c.4082del (p.Ter1361=)
c.3692del (p.Ter1231=)
c.169+1336del (n.169+1336del)
c.*124+1135del (n.*124+1135del)
c.*3429del (n.*3429del)
n.3051del
c.3176del (p.Ter1059=)
c.983del (p.Ter328=)
c.3899del (p.Ter1300=)
c.4175del (p.Ter1392=)
c.3992del (p.Ter1331=)
c.3878del (p.Ter1293=)
c.3269del (p.Ter1090=)
ClinVar dbSNP
2g.47806859A=CA2496054615FBXO11,MSH6c.3785A= (p.Ter1262=)
c.3698A= (p.Ter1233=)
n.4756A=
c.2516A= (p.Ter839=)
c.4088A= (p.Ter1363=)
c.1537A= (n.1537A=)
c.2855A= (p.Ter952=)
n.3060A=
n.2677A=
n.2344A=
n.2746A=
n.1491A=
n.3376A=
n.3889T=
n.4151T=
c.4082A= (p.Ter1361=)
c.3692A= (p.Ter1231=)
c.169+1336T= (n.169+1336T=)
c.*124+1135T= (n.*124+1135T=)
c.*3429A= (n.*3429A=)
n.3051T=
c.3176A= (p.Ter1059=)
c.983A= (p.Ter328=)
c.3899A= (p.Ter1300=)
c.4175A= (p.Ter1392=)
c.3992A= (p.Ter1331=)
c.3878A= (p.Ter1293=)
c.3269A= (p.Ter1090=)
2g.47806859A>CCA346761779FBXO11,MSH6c.3785A>C (p.Ter1262Ser)
c.3698A>C (p.Ter1233Ser)
n.4756A>C
c.2516A>C (p.Ter839Ser)
c.4088A>C (p.Ter1363Ser)
c.1537A>C (n.1537A>C)
c.2855A>C (p.Ter952Ser)
n.3060A>C
n.2677A>C
n.2344A>C
n.2746A>C
n.1491A>C
n.3376A>C
n.3889T>G
n.4151T>G
c.4082A>C (p.Ter1361Ser)
c.3692A>C (p.Ter1231Ser)
c.169+1336T>G (n.169+1336T>G)
c.*124+1135T>G (n.*124+1135T>G)
c.*3429A>C (n.*3429A>C)
n.3051T>G
c.3176A>C (p.Ter1059Ser)
c.983A>C (p.Ter328Ser)
c.3899A>C (p.Ter1300Ser)
c.4175A>C (p.Ter1392Ser)
c.3992A>C (p.Ter1331Ser)
c.3878A>C (p.Ter1293Ser)
c.3269A>C (p.Ter1090Ser)
2g.47806859A>GCA346761780FBXO11,MSH6c.3785A>G (p.Ter1262Trp)
c.3698A>G (p.Ter1233Trp)
n.4756A>G
c.2516A>G (p.Ter839Trp)
c.4088A>G (p.Ter1363Trp)
c.1537A>G (n.1537A>G)
c.2855A>G (p.Ter952Trp)
n.3060A>G
n.2677A>G
n.2344A>G
n.2746A>G
n.1491A>G
n.3376A>G
n.3889T>C
n.4151T>C
c.4082A>G (p.Ter1361Trp)
c.3692A>G (p.Ter1231Trp)
c.169+1336T>C (n.169+1336T>C)
c.*124+1135T>C (n.*124+1135T>C)
c.*3429A>G (n.*3429A>G)
n.3051T>C
c.3176A>G (p.Ter1059Trp)
c.983A>G (p.Ter328Trp)
c.3899A>G (p.Ter1300Trp)
c.4175A>G (p.Ter1392Trp)
c.3992A>G (p.Ter1331Trp)
c.3878A>G (p.Ter1293Trp)
c.3269A>G (p.Ter1090Trp)
dbSNP gnomAD v4
2g.47806859A>TCA46720482FBXO11,MSH6c.3785A>T (p.Ter1262Leu)
c.3698A>T (p.Ter1233Leu)
n.4756A>T
c.2516A>T (p.Ter839Leu)
c.4088A>T (p.Ter1363Leu)
c.1537A>T (n.1537A>T)
c.2855A>T (p.Ter952Leu)
n.3060A>T
n.2677A>T
n.2344A>T
n.2746A>T
n.1491A>T
n.3376A>T
n.3889T>A
n.4151T>A
c.4082A>T (p.Ter1361Leu)
c.3692A>T (p.Ter1231Leu)
c.169+1336T>A (n.169+1336T>A)
c.*124+1135T>A (n.*124+1135T>A)
c.*3429A>T (n.*3429A>T)
n.3051T>A
c.3176A>T (p.Ter1059Leu)
c.983A>T (p.Ter328Leu)
c.3899A>T (p.Ter1300Leu)
c.4175A>T (p.Ter1392Leu)
c.3992A>T (p.Ter1331Leu)
c.3878A>T (p.Ter1293Leu)
c.3269A>T (p.Ter1090Leu)
ClinVar dbSNP
2g.47806859_47806862dupCA915943995FBXO11,MSH6c.3785_*2dup (n.3785_*2dup)
c.3698_*2dup (n.3698_*2dup)
n.4756_4759dup
c.2516_*2dup (n.2516_*2dup)
c.4088_*2dup (n.4088_*2dup)
c.1537_1540dup (n.1537_1540dup)
c.2855_2858dup (n.2855_2858dup)
n.3060_3063dup
n.2677_2680dup
n.2344_2347dup
n.2746_2749dup
n.1491_1494dup
n.3376_3379dup
n.3886_3889dup
n.4148_4151dup
c.4082_*2dup (n.4082_*2dup)
c.3692_*2dup (n.3692_*2dup)
c.169+1333_169+1336dup (n.169+1333_169+1336dup)
c.*124+1132_*124+1135dup (n.*124+1132_*124+1135dup)
c.*3429_*3432dup (n.*3429_*3432dup)
n.3048_3051dup
c.3176_*2dup (n.3176_*2dup)
c.983_*2dup (n.983_*2dup)
c.3899_*2dup (n.3899_*2dup)
c.4175_*2dup (n.4175_*2dup)
c.3992_*2dup (n.3992_*2dup)
c.3878_*2dup (n.3878_*2dup)
c.3269_*2dup (n.3269_*2dup)
ClinVar dbSNP
2g.47806859_47806863delinsAGACTCA2496054614FBXO11,MSH6c.3785_*3delinsAGACT (n.[c.3785_*3delinsAGACT;Ter1262=])
c.3698_*3delinsAGACT (n.[c.3698_*3delinsAGACT;Ter1233=])
n.4756_4760delinsAGACT
c.2516_*3delinsAGACT (n.[c.2516_*3delinsAGACT;Ter839=])
c.4088_*3delinsAGACT (n.[c.4088_*3delinsAGACT;Ter1363=])
c.1537_1541delinsAGACT (n.1537_1541delinsAGACT)
c.2855_2859delinsAGACT (n.[c.2855_2859delinsAGACT;Ter952=])
n.3060_3064delinsAGACT
n.2677_2681delinsAGACT
n.2344_2348delinsAGACT
n.2746_2750delinsAGACT
n.1491_1495delinsAGACT
n.3376_3380delinsAGACT
n.3885_3889delinsAGTCT
n.4147_4151delinsAGTCT
c.4082_*3delinsAGACT (n.[c.4082_*3delinsAGACT;Ter1361=])
c.3692_*3delinsAGACT (n.[c.3692_*3delinsAGACT;Ter1231=])
c.169+1332_169+1336delinsAGTCT (n.169+1332_169+1336delinsAGTCT)
c.*124+1131_*124+1135delinsAGTCT (n.*124+1131_*124+1135delinsAGTCT)
c.*3429_*3433delinsAGACT (n.*3429_*3433delinsAGACT)
n.3047_3051delinsAGTCT
c.3176_*3delinsAGACT (n.[c.3176_*3delinsAGACT;Ter1059=])
c.983_*3delinsAGACT (n.[c.983_*3delinsAGACT;Ter328=])
c.3899_*3delinsAGACT (n.[c.3899_*3delinsAGACT;Ter1300=])
c.4175_*3delinsAGACT (n.[c.4175_*3delinsAGACT;Ter1392=])
c.3992_*3delinsAGACT (n.[c.3992_*3delinsAGACT;Ter1331=])
c.3878_*3delinsAGACT (n.[c.3878_*3delinsAGACT;Ter1293=])
c.3269_*3delinsAGACT (n.[c.3269_*3delinsAGACT;Ter1090=])
2g.47806859_47806868dupCA2573051978FBXO11,MSH6c.3785_*8dup (n.3785_*8dup)
c.3698_*8dup (n.3698_*8dup)
n.4756_4765dup
c.2516_*8dup (n.2516_*8dup)
c.4088_*8dup (n.4088_*8dup)
c.1537_1546dup (n.1537_1546dup)
c.2855_2864dup (n.2855_2864dup)
n.2677_2686dup
n.2344_2353dup
n.2746_2755dup
n.1491_1500dup
n.3376_3385dup
n.3880_3889dup
n.4142_4151dup
c.4082_*8dup (n.4082_*8dup)
c.3692_*8dup (n.3692_*8dup)
c.169+1327_169+1336dup (n.169+1327_169+1336dup)
c.*124+1126_*124+1135dup (n.*124+1126_*124+1135dup)
c.*3429_*3438dup (n.*3429_*3438dup)
n.3042_3051dup
c.3176_*8dup (n.3176_*8dup)
c.983_*8dup (n.983_*8dup)
c.3899_*8dup (n.3899_*8dup)
c.4175_*8dup (n.4175_*8dup)
c.3992_*8dup (n.3992_*8dup)
c.3878_*8dup (n.3878_*8dup)
c.3269_*8dup (n.3269_*8dup)
ClinVar dbSNP

Number of alleles fetched