Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.47803431_47807699del | CA1139656956 | FBXO11,MSH6 | c.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) | |
2 | g.47806768_47806769insAATTTTAAGGGATGATGCACTATGAAAAAACAAAAAAACTTTTTTTTTTTTTTTTT | CA2749812265 | FBXO11,MSH6 | c.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) | |
2 | g.47806725_47806781del | CA2573134802 | FBXO11,MSH6 | c.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 |
2 | g.47806746_47806768dup | CA2658969499 | FBXO11,MSH6 | c.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 |
2 | g.47806747_47806768dup | CA1649497 | FBXO11,MSH6 | c.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 |
2 | g.47806769_47806770insTAAAACTTTTTTTTTTTTTTTTTT | CA532705567 | FBXO11,MSH6 | c.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 |
2 | g.47806769_47806770insTTAAAACTTTTTTTTTTTTTTTTTT | CA2658969514 | FBXO11,MSH6 | c.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 |
2 | g.47806749_47806771dup | CA1649498 | FBXO11,MSH6 | c.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 |
2 | g.47806769_47806770insTAAACTTTTTTTTTTTTTTTTTT | CA1030297466 | FBXO11,MSH6 | c.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 |
2 | g.47806748_47806771delinsTTAAAAAAAAAAAAAAAAAAGTTT | CA357262 | FBXO11,MSH6 | c.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 |
2 | g.47806748_47806771delinsAAACTTTTTTTTTTTTTTTTTTAA | CA2496054473 | FBXO11,MSH6 | c.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) | |
2 | g.47806768_47806769insAAAACTTTTTTTTTTTTTTTTTT | CA2658969885 | FBXO11,MSH6 | c.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 |
2 | g.47806769_47806770insTAAAAATTTTTTTTTTTTTTTTTT | CA2658969765 | FBXO11,MSH6 | c.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 |
2 | g.47806769_47806770insTAAAACTTTTTTTTTTTTTTTTTTT | CA2658969764 | FBXO11,MSH6 | c.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 |
2 | g.47806769_47806770insTTAAAACTTTTTTTTTTTTTTTTTTT | CA2658969763 | FBXO11,MSH6 | c.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 |
2 | g.47806769dup | CA1649503 | FBXO11,MSH6 | c.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 |
2 | g.47806768_47806769dup | CA330589 | FBXO11,MSH6 | c.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 |
2 | g.47806767_47806769dup | CA330590 | FBXO11,MSH6 | c.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 |
2 | g.47806766_47806769dup | CA330591 | FBXO11,MSH6 | c.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 |
2 | g.47806765_47806769dup | CA769468503 | FBXO11,MSH6 | c.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 |
2 | g.47806764_47806769dup | CA769468500 | FBXO11,MSH6 | c.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 |
2 | g.47806763_47806769dup | CA1030297604 | FBXO11,MSH6 | c.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 |
2 | g.47806762_47806769dup | CA916529825 | FBXO11,MSH6 | c.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 |
2 | g.47806761_47806769dup | CA2658969880 | FBXO11,MSH6 | c.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 |
2 | g.47806760_47806769dup | CA2658969873 | FBXO11,MSH6 | c.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 |
2 | g.47806759_47806769dup | CA2749812318 | FBXO11,MSH6 | c.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) | |
2 | g.47806758_47806769dup | CA2658969870 | FBXO11,MSH6 | c.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 |
2 | g.47806757_47806769dup | CA1030297603 | FBXO11,MSH6 | c.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 |
2 | g.47806756_47806769dup | CA2658969864 | FBXO11,MSH6 | c.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 |
2 | g.47806755_47806769dup | CA1030297568 | FBXO11,MSH6 | c.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 |
2 | g.47806769del | CA015219 | FBXO11,MSH6 | c.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 |
2 | g.47806768_47806769del | CA330588 | FBXO11,MSH6 | c.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 |
2 | g.47806767_47806769del | CA1649504 | FBXO11,MSH6 | c.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 |
2 | g.47806766_47806769del | CA072652 | FBXO11,MSH6 | c.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 |
2 | g.47806765_47806769del | CA769468459 | FBXO11,MSH6 | c.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 |
2 | g.47806764_47806769del | CA46720263 | FBXO11,MSH6 | c.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 |
2 | g.47806763_47806769del | CA769468493 | FBXO11,MSH6 | c.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 |
2 | g.47806762_47806769del | CA769468475 | FBXO11,MSH6 | c.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 |
2 | g.47806761_47806769del | CA46720251 | FBXO11,MSH6 | c.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 |
2 | g.47806760_47806769del | CA2658969779 | FBXO11,MSH6 | c.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 |
2 | g.47806759_47806769del | CA913188071 | FBXO11,MSH6 | c.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 |
2 | g.47806757_47806769del | CA1030297542 | FBXO11,MSH6 | c.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 |
2 | g.47806755_47806769del | CA2573134803 | FBXO11,MSH6 | c.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 |
2 | g.47806752_47806771delinsTTTTTTTTTTTTTTTTTTAA | CA2496054487 | FBXO11,MSH6 | c.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) | |
2 | g.47806771_47806772insAAATTTTTTTTTTTTTTTTTTAA | CA2658969774 | FBXO11,MSH6 | c.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 |
2 | g.47806771_47806772insAAGTTTTTTTTTTTTTTTTTTAA | CA2658969766 | FBXO11,MSH6 | c.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 |
2 | g.47806771_47806772insAAATTTTTTTTTTTTTTTTTTTAA | CA2658969771 | FBXO11,MSH6 | c.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 |
2 | g.47806771_47806772insAACTTTTTTTTTTTTTTTTTTTAA | CA1030297561 | FBXO11,MSH6 | c.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 |
2 | g.47806771_47806772insAACTTTTTTTTTTTTTTTTTTTTAA | CA2658969768 | FBXO11,MSH6 | c.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 |
2 | g.47806756_47806775del | CA2739274450 | FBXO11,MSH6 | c.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 |
2 | g.47806768_47806769insAAAACTTTTTTTTTTTTTTTT | CA1649506 | FBXO11,MSH6 | c.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 |
2 | g.47806768_47806769insAATTTTTGCACTATGAAAAAACAAAAAAACTTTTTTTTTTTTTTTT | CA2563140270 | FBXO11,MSH6 | c.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) | |
2 | g.47806769_47806770insTAAAACTTTTTTTTTTTTTTTTT | CA2658969964 | FBXO11,MSH6 | c.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 |
2 | g.47806769_47806770insTTAAAACTTTTTTTTTTTTTTTTT | CA2658969960 | FBXO11,MSH6 | c.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 |
2 | g.47806771_47806772insAAATTTTTTTTTTTTTTTTTAA | CA2658969968 | FBXO11,MSH6 | c.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 |
2 | g.47806771_47806772insAACTTTTTTTTTTTTTTTTTAA | CA532705570 | FBXO11,MSH6 | c.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 |
2 | g.47806771_47806772insAACATTTTTTTTTTTTTTTTTAA | CA2658969965 | FBXO11,MSH6 | c.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 |
2 | g.47806757_47806775del | CA330592 | FBXO11,MSH6 | c.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 |
2 | g.47806768_47806769insAAAACTTTTTTTTTTTTTTT | CA532705573 | FBXO11,MSH6 | c.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 |
2 | g.47806768_47806769insAAAAACTTTTTTTTTTTTTTT | CA2658970018 | FBXO11,MSH6 | c.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 |
2 | g.47806771_47806772insAAATTTTTTTTTTTTTTTTAA | CA2658970024 | FBXO11,MSH6 | c.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 |
2 | g.47806771_47806772insAACTTTTTTTTTTTTTTTTAA | CA1649508 | FBXO11,MSH6 | c.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 |
2 | g.47806775_47806776insTGCACTATGAAAAAACAAAAAAACTTTTTTTTTTTTTTTTAATTTT | CA2658970014 | FBXO11,MSH6 | c.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 |
2 | g.47806754_47806777del | CA2658970012 | FBXO11,MSH6 | c.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 |
2 | g.47806768_47806769insAAAACTTTTTTTTTTTTTT | CA2658970031 | FBXO11,MSH6 | c.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 |
2 | g.47806771_47806772insAACTTTTTTTTTTTTTTTAA | CA2658970033 | FBXO11,MSH6 | c.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 |
2 | g.47806756_47806769delinsTTTTTTTTTTTTTT | CA2496054492 | FBXO11,MSH6 | c.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) | |
2 | g.47806757_47806769delinsAAGGG | CA10582094 | FBXO11,MSH6 | c.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 |
2 | g.47806761_47806775del | CA2580067577 | FBXO11,MSH6 | c.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 |
2 | g.47806758_47806811del | CA2580611344 | FBXO11,MSH6 | c.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 |
2 | g.47806771_47806772insAACTTTTTTTTTTTAA | CA2658970064 | FBXO11,MSH6 | c.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 |
2 | g.47806762_47806769delinsGTTTTTTC | CA2499216153 | FBXO11,MSH6 | c.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 |
2 | g.47806762_47806778dup | CA2658970093 | FBXO11,MSH6 | c.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 |
2 | g.47806763_47806771delinsTTTTTTTAA | CA2496054500 | FBXO11,MSH6 | c.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) | |
2 | g.47806764_47806770del | CA2573134804 | FBXO11,MSH6 | c.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 |
2 | g.47806764_47806770delinsTTTTTTA | CA2496054502 | FBXO11,MSH6 | c.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) | |
2 | g.47806764_47806771delinsTTTTTTAA | CA2496054501 | FBXO11,MSH6 | c.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) | |
2 | g.47806768_47806775del | CA16611185 | FBXO11,MSH6 | c.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 |
2 | g.47806765_47806770del | CA658683262 | FBXO11,MSH6 | c.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 |
2 | g.47806769_47806775del | CA658795766 | FBXO11,MSH6 | c.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 |
2 | g.47806772_47806777dup | CA2658970121 | FBXO11,MSH6 | c.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 |
2 | g.47806772_47806777del | CA2580611345 | FBXO11,MSH6 | c.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 |
2 | g.47806767_47806769delinsTTT | CA2496054508 | FBXO11,MSH6 | c.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) | |
2 | g.47806769_47806770insTCTTT | CA2699333308 | FBXO11,MSH6 | c.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 |
2 | g.47806767_47806770del | CA2658970130 | FBXO11,MSH6 | c.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 |
2 | g.47806767_47806770delinsTTTA | CA2496054509 | FBXO11,MSH6 | c.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) | |
2 | g.47806770_47806774dup | CA532705575 | FBXO11,MSH6 | c.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 |
2 | g.47806770_47806774del | CA2739274451 | FBXO11,MSH6 | c.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 |
2 | g.47806768T>A | CA532705578 | FBXO11,MSH6 | c.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 |
2 | g.47806768T>C | CA2658970159 | FBXO11,MSH6 | c.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 |
2 | g.47806768T>G | CA913188075 | FBXO11,MSH6 | c.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 |
2 | g.47806768T= | CA2496054510 | FBXO11,MSH6 | c.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=) | |
2 | g.47806768_47806769insAAT | CA532705577 | FBXO11,MSH6 | c.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 |
2 | g.47806768_47806769delinsA | CA658822274 | FBXO11,MSH6 | c.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 |
2 | g.47806769_47806770insTAATT | CA769468621 | FBXO11,MSH6 | c.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 |
2 | g.47806768_47806770del | CA072620 | FBXO11,MSH6 | c.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 |
2 | g.47806768_47806771delinsTTAA | CA2496054511 | FBXO11,MSH6 | c.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) | |
2 | g.47806770_47806773dup | CA532705576 | FBXO11,MSH6 | c.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 |
2 | g.47806768_47806769insAA | CA532705579 | FBXO11,MSH6 | c.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 |
2 | g.47806769T>A | CA015230 | FBXO11,MSH6 | c.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 |
2 | g.47806769T>C | CA2573134805 | FBXO11,MSH6 | c.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 |
2 | g.47806769T>G | CA16617724 | FBXO11,MSH6 | c.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 |
2 | g.47806769T= | CA2496054513 | FBXO11,MSH6 | c.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=) | |
2 | g.47806769_47806770del | CA426122247 | FBXO11,MSH6 | c.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 |
2 | g.47806769_47806770delinsTA | CA2496054512 | FBXO11,MSH6 | c.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) | |
2 | g.47806769_47806771delinsTAA | CA2496054514 | FBXO11,MSH6 | c.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) | |
2 | g.47806770_47806772del | CA072615 | FBXO11,MSH6 | c.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 |
2 | g.47806769_47806770insTA | CA2580067582 | FBXO11,MSH6 | c.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 |
2 | g.47806769_47806770insTAA | CA2658970187 | FBXO11,MSH6 | c.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 |
2 | g.47806769_47806770insTTA | CA1030297730 | FBXO11,MSH6 | c.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 |
2 | g.47806770A= | CA2496054515 | FBXO11,MSH6 | c.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=) | |
2 | g.47806770A>C | CA1030297735 | FBXO11,MSH6 | c.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 |
2 | g.47806770A>G | CA1139656990 | FBXO11,MSH6 | c.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 |
2 | g.47806770A>T | CA072775 | FBXO11,MSH6 | c.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 |
2 | g.47806770_47806771del | CA1649509 | FBXO11,MSH6 | c.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 |
2 | g.47806771_47806772insGGGAA | CA891843286 | FBXO11,MSH6 | c.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 |
2 | g.47806771dup | CA015287 | FBXO11,MSH6 | c.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 |
2 | g.47806770_47806771dup | CA46720309 | FBXO11,MSH6 | c.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) | |
2 | g.47806771del | CA1649510 | FBXO11,MSH6 | c.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 |
2 | g.47806771A= | CA2496054516 | FBXO11,MSH6 | c.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=) | |
2 | g.47806771A>C | CA072767 | FBXO11,MSH6 | c.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 |
2 | g.47806771A>G | CA2496054517 | FBXO11,MSH6 | c.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 |
2 | g.47806771A>T | CA072769 | FBXO11,MSH6 | c.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 |
2 | g.47806771_47806772insAACTTTTTTTTTTTTTTTTTTTA | CA2749812345 | FBXO11,MSH6 | c.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) | |
2 | g.47806771_47806773dup | CA1649511 | FBXO11,MSH6 | c.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 |
2 | g.47806771_47806774dup | CA1649512 | FBXO11,MSH6 | c.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 |
2 | g.47806772_47806776del | CA2580067584 | FBXO11,MSH6 | c.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 |
2 | g.47806772_47806806dup | CA2580067583 | FBXO11,MSH6 | c.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 |
2 | g.47806771_47806772insAC | CA2658970221 | FBXO11,MSH6 | c.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 |
2 | g.47806771_47806772insAAC | CA2519725600 | FBXO11,MSH6 | c.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 |
2 | g.47806771_47806772insAACT | CA2658970229 | FBXO11,MSH6 | c.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 |
2 | g.47806771_47806772insAACTT | CA2658970230 | FBXO11,MSH6 | c.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 |
2 | g.47806771_47806772insAACTTT | CA2658970231 | FBXO11,MSH6 | c.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 |
2 | g.47806771_47806772insAACTTTT | CA2658970232 | FBXO11,MSH6 | c.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 |
2 | g.47806771_47806772insAACTTTTT | CA2658970233 | FBXO11,MSH6 | c.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 |
2 | g.47806771_47806772insAACTTTTTT | CA2658970234 | FBXO11,MSH6 | c.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 |
2 | g.47806771_47806772insAACTTTTTTT | CA2658970237 | FBXO11,MSH6 | c.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 |
2 | g.47806771_47806772insAACTTTTTTTT | CA2658970239 | FBXO11,MSH6 | c.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 |
2 | g.47806771_47806772insAATTTTTTTTT | CA2749812352 | FBXO11,MSH6 | c.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) | |
2 | g.47806771_47806772insAACTTTTTTTTT | CA915943989 | FBXO11,MSH6 | c.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 |
2 | g.47806771_47806772insAACTTTTTTTTTTT | CA2658970240 | FBXO11,MSH6 | c.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 |
2 | g.47806771_47806772insAATTTTTTTTTTTT | CA2658970225 | FBXO11,MSH6 | c.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 |
2 | g.47806771_47806772insATTTTTTTTTTTTT | CA2658970224 | FBXO11,MSH6 | c.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 |
2 | g.47806771_47806772insAACTTTTTTTTTTTT | CA915943990 | FBXO11,MSH6 | c.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 |
2 | g.47806771_47806772insAATTTTTTTTTTTTT | CA2597473926 | FBXO11,MSH6 | c.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 |
2 | g.47806771_47806772insACTTTTTTTTTTTTT | CA2658970222 | FBXO11,MSH6 | c.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 |
2 | g.47806771_47806772insAAATTTTTTTTTTTTT | CA2658970228 | FBXO11,MSH6 | c.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 |
2 | g.47806771_47806772insAACTTTTTTTTTTTTT | CA1649513 | FBXO11,MSH6 | c.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 |
2 | g.47806771_47806772insAATTTTTTTTTTTTTT | CA2658970219 | FBXO11,MSH6 | c.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 |
2 | g.47806771_47806772insACTTTTTTTTTTTTTT | CA2658970223 | FBXO11,MSH6 | c.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 |
2 | g.47806771_47806772insAACTTTTTTTTTTTTTT | CA1649514 | FBXO11,MSH6 | c.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 |
2 | g.47806771_47806772insAATTTTTTTTTTTTTTT | CA2658970220 | FBXO11,MSH6 | c.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 |
2 | g.47806771_47806772insAACTTTTTTTTTTTTTTT | CA2658970227 | FBXO11,MSH6 | c.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 |
2 | g.47806771_47806772insAACTTTTTTTTTTTTTTTT | CA2658970217 | FBXO11,MSH6 | c.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 |
2 | g.47806771_47806772insAACTTTTTTTTTTTTTTTTTAT | CA2658970218 | FBXO11,MSH6 | c.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 |
2 | g.47806771_47806772insAACTTTTTTTTTTTTTTTTTTAT | CA1030297786 | FBXO11,MSH6 | c.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 |
2 | g.47806771_47806772insAACTTTTTTTTTTTTTTTTTTTT | CA1030297785 | FBXO11,MSH6 | c.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 |
2 | g.47806772T>A | CA072763 | FBXO11,MSH6 | c.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 |
2 | g.47806772T= | CA2496054519 | FBXO11,MSH6 | c.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=) | |
2 | g.47806775_47806776insTTTTT | CA1030297850 | FBXO11,MSH6 | c.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 |
2 | g.47806775_47806776insTTTTTTT | CA1030297849 | FBXO11,MSH6 | c.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 |
2 | g.47806775_47806776insTTTTTTTT | CA532705581 | FBXO11,MSH6 | c.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 |
2 | g.47806775_47806776insTTTTTTTTT | CA1030297823 | FBXO11,MSH6 | c.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 |
2 | g.47806775_47806776insTTTTTTTTTT | CA1030297820 | FBXO11,MSH6 | c.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 |
2 | g.47806775_47806776insTTTTTTTTTTT | CA2749812351 | FBXO11,MSH6 | c.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) | |
2 | g.47806775_47806776insTTTTTTTTTTTT | CA1030297816 | FBXO11,MSH6 | c.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 |
2 | g.47806775_47806776insTTTTTTTTTTTTT | CA532705582 | FBXO11,MSH6 | c.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 |
2 | g.47806775_47806776insTTTTTTTTTTTTTT | CA1030297865 | FBXO11,MSH6 | c.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 |
2 | g.47806775_47806776insTTTTTTTTTTTTTTT | CA916529849 | FBXO11,MSH6 | c.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 |
2 | g.47806775_47806776insTTTTTTTTTTTTTTTT | CA1030297810 | FBXO11,MSH6 | c.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 |
2 | g.47806775_47806776insTTTTTTTTTTTTTTTTT | CA532705583 | FBXO11,MSH6 | c.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 |
2 | g.47806775_47806776insTTTTTTTTTTTTTTTTTT | CA1030297809 | FBXO11,MSH6 | c.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 |
2 | g.47806775_47806776insTTTTTTTTTTTTTTTTTTTT | CA916529850 | FBXO11,MSH6 | c.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 |
2 | g.47806775_47806776insTTTTTTTTTTTTTTTTTTTTTTTT | CA916529851 | FBXO11,MSH6 | c.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 |
2 | g.47806775_47806776insTTTTTTTTTTTTTTTTTTTTTTTTTTTT | CA1030297804 | FBXO11,MSH6 | c.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 |
2 | g.47806775_47806776insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT | CA1030297799 | FBXO11,MSH6 | c.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 |
2 | g.47806775_47806776insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT | CA1030297792 | FBXO11,MSH6 | c.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 |
2 | g.47806775dup | CA2499216154 | FBXO11,MSH6 | c.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 |
2 | g.47806773_47806775dup | CA532705580 | FBXO11,MSH6 | c.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 |
2 | g.47806772_47806775dup | CA1030297858 | FBXO11,MSH6 | c.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 |
2 | g.47806775del | CA2505628762 | FBXO11,MSH6 | c.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) | |
2 | g.47806772_47806778delinsTTTTAAG | CA2496054518 | FBXO11,MSH6 | c.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) | |
2 | g.47806773T>A | CA2699333579 | FBXO11,MSH6 | c.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 |
2 | g.47806773T>C | CA2699333381 | FBXO11,MSH6 | c.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 |
2 | g.47806773T>G | CA2573134806 | FBXO11,MSH6 | c.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 |
2 | g.47806773T= | CA2496054520 | FBXO11,MSH6 | c.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=) | |
2 | g.47806773_47806778del | CA1139656991 | FBXO11,MSH6 | c.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 |
2 | g.47806774T>A | CA2580067586 | FBXO11,MSH6 | c.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 |
2 | g.47806774T>G | CA16611188 | FBXO11,MSH6 | c.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 |
2 | g.47806774T= | CA2496054521 | FBXO11,MSH6 | c.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=) | |
2 | g.47806774_47806787dup | CA10577297 | FBXO11,MSH6 | c.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 |
2 | g.47806775_47806797dup | CA2573134807 | FBXO11,MSH6 | c.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 |
2 | g.47806775T>A | CA2658970243 | FBXO11,MSH6 | c.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 |
2 | g.47806775T>C | CA015278 | FBXO11,MSH6 | c.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 |
2 | g.47806775T= | CA2496054522 | FBXO11,MSH6 | c.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=) | |
2 | g.47806775_47806782delinsTAAGGGAA | CA2496054523 | FBXO11,MSH6 | c.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 | |
2 | g.47806775_47806783delinsTAAGGGAAG | CA2496054524 | FBXO11,MSH6 | c.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 | |
2 | g.47806776A= | CA2496054525 | FBXO11,MSH6 | c.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=) | |
2 | g.47806776A>C | CA916080295 | FBXO11,MSH6 | c.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 |
2 | g.47806776A>T | CA532705586 | FBXO11,MSH6 | c.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 |
2 | g.47806776_47806777del | CA532705585 | FBXO11,MSH6 | c.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 |
2 | g.47806776_47806778del | CA2749812358 | FBXO11,MSH6 | c.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) | |
2 | g.47806776_47806779del | CA2749812356 | FBXO11,MSH6 | c.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 | |
2 | g.47806776_47806782del | CA532705584 | FBXO11,MSH6 | c.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 |
2 | g.47806777_47806782del | CA2749812357 | FBXO11,MSH6 | c.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 | |
2 | g.47806776_47806783del | CA426122248 | FBXO11,MSH6 | c.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 |
2 | g.47806779_47806783dup | CA658655786 | FBXO11,MSH6 | c.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 |
2 | g.47806777A= | CA2496054526 | FBXO11,MSH6 | c.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=) | |
2 | g.47806777A>C | CA346761616 | FBXO11,MSH6 | c.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) | |
2 | g.47806777A>G | CA10582095 | FBXO11,MSH6 | c.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 |
2 | g.47806777A>T | CA346761617 | FBXO11,MSH6 | c.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 |
2 | g.47806777_47806778insTTTTT | CA532705587 | FBXO11,MSH6 | c.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 |
2 | g.47806778G>A | CA346761618 | FBXO11,MSH6 | c.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 |
2 | g.47806778G>C | CA346761620 | FBXO11,MSH6 | c.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) | |
2 | g.47806778G= | CA2496054527 | FBXO11,MSH6 | c.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=) | |
2 | g.47806778G>T | CA346761619 | FBXO11,MSH6 | c.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 |
2 | g.47806780dup | CA916080296 | FBXO11,MSH6 | c.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 |
2 | g.47806780del | CA2658970262 | FBXO11,MSH6 | c.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 | ClinVar gnomAD v4 |
2 | g.47806778_47806787dup | CA915943991 | FBXO11,MSH6 | c.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 |
2 | g.47806779_47806798dup | CA2658970261 | FBXO11,MSH6 | c.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 |
2 | g.47806779G>A | CA426122249 | FBXO11,MSH6 | c.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 |
2 | g.47806779G>C | CA426122251 | FBXO11,MSH6 | c.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 |
2 | g.47806779G= | CA2496054528 | FBXO11,MSH6 | c.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=) | |
2 | g.47806779G>T | CA426122250 | FBXO11,MSH6 | c.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 |
2 | g.47806780_47806796dup | CA1139656992 | FBXO11,MSH6 | c.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 |
2 | g.47806779_47806800dup | CA2573134808 | FBXO11,MSH6 | c.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 |
2 | g.47806780G>A | CA346761621 | FBXO11,MSH6 | c.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 |
2 | g.47806780G>C | CA346761622 | FBXO11,MSH6 | c.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 |
2 | g.47806780G= | CA2496054529 | FBXO11,MSH6 | c.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=) | |
2 | g.47806780G>T | CA346761623 | FBXO11,MSH6 | c.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 |
2 | g.47806781_47806783dup | CA2658970270 | FBXO11,MSH6 | c.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) | ClinVar gnomAD v4 |
2 | g.47806781A= | CA2496054530 | FBXO11,MSH6 | c.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=) | |
2 | g.47806781A>C | CA015298 | FBXO11,MSH6 | c.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 |
2 | g.47806781A>G | CA346761624 | FBXO11,MSH6 | c.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 |
2 | g.47806781A>T | CA346761625 | FBXO11,MSH6 | c.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 |
2 | g.47806781_47806784dup | CA10578174 | FBXO11,MSH6 | c.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 |
2 | g.47806781_47806782insTTTTGTT | CA2749812362 | FBXO11,MSH6 | c.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) | |
2 | g.47806782A= | CA2496054531 | FBXO11,MSH6 | c.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=) | |
2 | g.47806782A>C | CA015307 | FBXO11,MSH6 | c.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 |
2 | g.47806782A>G | CA426122252 | FBXO11,MSH6 | c.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 |
2 | g.47806782A>T | CA346761626 | FBXO11,MSH6 | c.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 |
2 | g.47806782_47806785dup | CA1139656993 | FBXO11,MSH6 | c.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 |
2 | g.47806782_47806783insTTTT | CA1030297954 | FBXO11,MSH6 | c.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) | |
2 | g.47806783G>A | CA072783 | FBXO11,MSH6 | c.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 |
2 | g.47806783G>C | CA346761627 | FBXO11,MSH6 | c.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 |
2 | g.47806783G= | CA2496054532 | FBXO11,MSH6 | c.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=) | |
2 | g.47806783G>T | CA346761628 | FBXO11,MSH6 | c.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 |
2 | g.47806783_47806785dup | CA2499216156 | FBXO11,MSH6 | c.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 |
2 | g.47806783_47806793dup | CA2658970300 | FBXO11,MSH6 | c.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 |
2 | g.47806783_47806836dup | CA2658970299 | FBXO11,MSH6 | c.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 |
2 | g.47806784T>A | CA346761629 | FBXO11,MSH6 | c.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 |
2 | g.47806784T>C | CA346761631 | FBXO11,MSH6 | c.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 |
2 | g.47806784T>G | CA346761630 | FBXO11,MSH6 | c.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 |
2 | g.47806784T= | CA2496054533 | FBXO11,MSH6 | c.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=) | |
2 | g.47806786_47806787insTTTT | CA426122253 | FBXO11,MSH6 | c.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 |
2 | g.47806786_47806787insTTTTTTTTTT | CA2749812365 | FBXO11,MSH6 | c.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) | |
2 | g.47806785_47806786dup | CA532705588 | FBXO11,MSH6 | c.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 |
2 | g.47806786del | CA2580067589 | FBXO11,MSH6 | c.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 |
2 | g.47806785T>A | CA426122254 | FBXO11,MSH6 | c.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 |
2 | g.47806785T>C | CA426122255 | FBXO11,MSH6 | c.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 |
2 | g.47806785T>G | CA1649515 | FBXO11,MSH6 | c.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 |
2 | g.47806785T= | CA2496054535 | FBXO11,MSH6 | c.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=) | |
2 | g.47806785_47806789delinsTTGCC | CA2496054534 | FBXO11,MSH6 | c.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=) | |
2 | g.47806786T>A | CA346761632 | FBXO11,MSH6 | c.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 |
2 | g.47806786T>C | CA346761633 | FBXO11,MSH6 | c.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) | |
2 | g.47806786T>G | CA346761634 | FBXO11,MSH6 | c.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) | |
2 | g.47806786T= | CA2496054536 | FBXO11,MSH6 | c.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=) | |
2 | g.47806788_47806791del | CA1649516 | FBXO11,MSH6 | c.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 |
2 | g.47806788_47806798dup | CA2580067590 | FBXO11,MSH6 | c.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 |
2 | g.47806787G>A | CA346761635 | FBXO11,MSH6 | c.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 |
2 | g.47806787G>C | CA346761636 | FBXO11,MSH6 | c.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 |
2 | g.47806787G>T | CA346761637 | FBXO11,MSH6 | c.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 |
2 | g.47806787_47806788del | CA2749812366 | FBXO11,MSH6 | c.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) | |
2 | g.47806788_47806796dup | CA46720362 | FBXO11,MSH6 | c.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 |
2 | g.47806788C>A | CA346761638 | FBXO11,MSH6 | c.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 |
2 | g.47806788C= | CA2496054537 | FBXO11,MSH6 | c.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=) | |
2 | g.47806788C>G | CA346761639 | FBXO11,MSH6 | c.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 |
2 | g.47806788C>T | CA072799 | FBXO11,MSH6 | c.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 |
2 | g.47806788_47806807delinsCCTGGCTAGTGAAAGGTCAA | CA2496054538 | FBXO11,MSH6 | c.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=) | |
2 | g.47806788_47806789insTTTTTTTTTTTT | CA2749812367 | FBXO11,MSH6 | c.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) | |
2 | g.47806789C>A | CA346761640 | FBXO11,MSH6 | c.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 |
2 | g.47806789C= | CA2496054539 | FBXO11,MSH6 | c.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=) | |
2 | g.47806789C>G | CA346761641 | FBXO11,MSH6 | c.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 |
2 | g.47806789C>T | CA16611189 | FBXO11,MSH6 | c.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 |
2 | g.47806792_47806810del | CA891843287 | FBXO11,MSH6 | c.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 |
2 | g.47806790T>A | CA346761642 | FBXO11,MSH6 | c.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) | |
2 | g.47806790T>C | CA346761644 | FBXO11,MSH6 | c.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 |
2 | g.47806790T>G | CA346761643 | FBXO11,MSH6 | c.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) | |
2 | g.47806790T= | CA2496054541 | FBXO11,MSH6 | c.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=) | |
2 | g.47806792_47806798dup | CA2496054540 | FBXO11,MSH6 | c.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 |
2 | g.47806791G>A | CA426122256 | FBXO11,MSH6 | c.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 |
2 | g.47806791G>C | CA10578175 | FBXO11,MSH6 | c.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 |
2 | g.47806791G= | CA2496054542 | FBXO11,MSH6 | c.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=) | |
2 | g.47806791G>T | CA426122257 | FBXO11,MSH6 | c.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 |
2 | g.47806792G>A | CA346761645 | FBXO11,MSH6 | c.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 |
2 | g.47806792G>C | CA346761646 | FBXO11,MSH6 | c.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 |
2 | g.47806792G= | CA2496054544 | FBXO11,MSH6 | c.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=) | |
2 | g.47806792G>T | CA346761647 | FBXO11,MSH6 | c.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 |
2 | g.47806792_47806800dup | CA2496054543 | FBXO11,MSH6 | c.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 |
2 | g.47806792_47806807delinsGCTAGTGAAAGGTCAA | CA2496054545 | FBXO11,MSH6 | c.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=) | |
2 | g.47806793_47806845dup | CA1139656994 | FBXO11,MSH6 | c.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 |
2 | g.47806793C>A | CA346761648 | FBXO11,MSH6 | c.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 |
2 | g.47806793C= | CA2496054546 | FBXO11,MSH6 | c.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=) | |
2 | g.47806793C>G | CA072803 | FBXO11,MSH6 | c.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 |
2 | g.47806793C>T | CA346761649 | FBXO11,MSH6 | c.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 |
2 | g.47806793dup | CA16617725 | FBXO11,MSH6 | c.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 |
2 | g.47806793_47806794dup | CA10577298 | FBXO11,MSH6 | c.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 |
2 | g.47806795_47806809del | CA658795767 | FBXO11,MSH6 | c.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 |
2 | g.47806793_47806823dup | CA2658970391 | FBXO11,MSH6 | c.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 |
2 | g.47806794T>A | CA426122258 | FBXO11,MSH6 | c.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 |
2 | g.47806794T>C | CA426122259 | FBXO11,MSH6 | c.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 |
2 | g.47806794T>G | CA426122260 | FBXO11,MSH6 | c.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=) | |
2 | g.47806795A= | CA2496054547 | FBXO11,MSH6 | c.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=) | |
2 | g.47806795A>C | CA346761650 | FBXO11,MSH6 | c.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) | |
2 | g.47806795A>G | CA346761651 | FBXO11,MSH6 | c.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 |
2 | g.47806795A>T | CA346761652 | FBXO11,MSH6 | c.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 |
2 | g.47806796G>A | CA346761653 | FBXO11,MSH6 | c.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 |
2 | g.47806796G>C | CA346761654 | FBXO11,MSH6 | c.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 |
2 | g.47806796G>T | CA346761655 | FBXO11,MSH6 | c.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 |
2 | g.47806798_47806804del | CA2580067591 | FBXO11,MSH6 | c.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 |
2 | g.47806796_47806814delinsGTGAAAGGTCAACTGTAGA | CA2496054549 | FBXO11,MSH6 | c.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=) | |
2 | g.47806796_47806817delinsGTGAAAGGTCAACTGTAGATGC | CA2496054548 | FBXO11,MSH6 | c.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=) | |
2 | g.47806798_47806826del | CA2658970401 | FBXO11,MSH6 | c.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 |
2 | g.47806797T>A | CA346761656 | FBXO11,MSH6 | c.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) | |
2 | g.47806797T>C | CA426122261 | FBXO11,MSH6 | c.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 |
2 | g.47806797T>G | CA346761657 | FBXO11,MSH6 | c.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 |
2 | g.47806797T= | CA2496054550 | FBXO11,MSH6 | c.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=) | |
2 | g.47806797_47806807dup | CA2579753930 | FBXO11,MSH6 | c.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) | |
2 | g.47806799_47806816del | CA913188078 | FBXO11,MSH6 | c.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 |
2 | g.47806801_47806821dup | CA913188077 | FBXO11,MSH6 | c.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 |
2 | g.47806801_47806821del | CA16611190 | FBXO11,MSH6 | c.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 |
2 | g.47806798G>A | CA16621983 | FBXO11,MSH6 | c.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 |
2 | g.47806798G>C | CA346761658 | FBXO11,MSH6 | c.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 |
2 | g.47806798G= | CA2496054551 | FBXO11,MSH6 | c.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=) | |
2 | g.47806798G>T | CA346761659 | FBXO11,MSH6 | c.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 |
2 | g.47806799A= | CA2496054552 | FBXO11,MSH6 | c.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=) | |
2 | g.47806799A>C | CA346761660 | FBXO11,MSH6 | c.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) | |
2 | g.47806799A>G | CA072808 | FBXO11,MSH6 | c.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 |
2 | g.47806799A>T | CA346761661 | FBXO11,MSH6 | c.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) | |
2 | g.47806801del | CA2573134809 | FBXO11,MSH6 | c.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 |
2 | g.47806801_47806807del | CA2576961637 | FBXO11,MSH6 | c.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) | |
2 | g.47806799_47806854dup | CA16617726 | FBXO11,MSH6 | c.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 |
2 | g.47806800A= | CA2496054553 | FBXO11,MSH6 | c.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=) | |
2 | g.47806800A>C | CA346761662 | FBXO11,MSH6 | c.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) | |
2 | g.47806800A>G | CA426122262 | FBXO11,MSH6 | c.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=) | |
2 | g.47806800A>T | CA346761663 | FBXO11,MSH6 | c.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) | |
2 | g.47806801A= | CA2496054555 | FBXO11,MSH6 | c.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=) | |
2 | g.47806801A>C | CA426122263 | FBXO11,MSH6 | c.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 |
2 | g.47806801A>G | CA346761664 | FBXO11,MSH6 | c.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 |
2 | g.47806801A>T | CA346761665 | FBXO11,MSH6 | c.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 |
2 | g.47806802_47806846dup | CA2496054554 | FBXO11,MSH6 | c.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 |
2 | g.47806802G>A | CA346761666 | FBXO11,MSH6 | c.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 |
2 | g.47806802G>C | CA072813 | FBXO11,MSH6 | c.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 |
2 | g.47806802G= | CA2496054556 | FBXO11,MSH6 | c.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=) | |
2 | g.47806802G>T | CA346761667 | FBXO11,MSH6 | c.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 |
2 | g.47806803G>A | CA426122264 | FBXO11,MSH6 | c.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 |
2 | g.47806803G>C | CA10578176 | FBXO11,MSH6 | c.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 |
2 | g.47806803G= | CA2496054558 | FBXO11,MSH6 | c.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=) | |
2 | g.47806803G>T | CA346761668 | FBXO11,MSH6 | c.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 |
2 | g.47806803_47806805delinsGTC | CA2496054557 | FBXO11,MSH6 | c.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=) | |
2 | g.47806804T>A | CA346761669 | FBXO11,MSH6 | c.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) | |
2 | g.47806804T>C | CA346761670 | FBXO11,MSH6 | c.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 |
2 | g.47806804T>G | CA346761671 | FBXO11,MSH6 | c.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 |
2 | g.47806804T= | CA2496054559 | FBXO11,MSH6 | c.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=) | |
2 | g.47806804_47806805del | CA915943992 | FBXO11,MSH6 | c.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 |
2 | g.47806805_47806815dup | CA2825001144 | FBXO11,MSH6 | c.3731_3741dup (p.Ala1248GlnfsTer3) c.3644_3654dup (p.Ala1219GlnfsTer3) n.4702_4712dup c.2462_2472dup (p.Ala825GlnfsTer3) c.4034_4044dup (p.Ala1349GlnfsTer3) c.1483_1493dup (n.1483_1493dup) c.2801_2811dup (p.Ala938GlnfsTer3) n.3006_3016dup n.2623_2633dup n.2290_2300dup n.2692_2702dup n.1437_1447dup n.3322_3332dup n.3934_3944dup n.4196_4206dup c.4028_4038dup (p.Ala1347GlnfsTer3) c.3638_3648dup (p.Ala1217GlnfsTer3) c.169+1381_169+1391dup (n.169+1381_169+1391dup) c.*124+1180_*124+1190dup (n.*124+1180_*124+1190dup) c.*3375_*3385dup (n.*3375_*3385dup) n.3096_3106dup c.3122_3132dup (p.Ala1045GlnfsTer3) c.929_939dup (p.Ala314GlnfsTer3) c.3845_3855dup (p.Ala1286GlnfsTer3) c.4121_4131dup (p.Ala1378GlnfsTer3) c.3938_3948dup (p.Ala1317GlnfsTer3) c.3824_3834dup (p.Ala1279GlnfsTer3) c.3215_3225dup (p.Ala1076GlnfsTer3) | ClinVar |
2 | g.47806805_47806818dup | CA2573134810 | FBXO11,MSH6 | c.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 |
2 | g.47806805C>A | CA346761672 | FBXO11,MSH6 | c.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 |
2 | g.47806805C= | CA2496054560 | FBXO11,MSH6 | c.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=) | |
2 | g.47806805C>G | CA279821 | FBXO11,MSH6 | c.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 |
2 | g.47806805C>T | CA346761673 | FBXO11,MSH6 | c.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 |
2 | g.47806806_47806808dup | CA072818 | FBXO11,MSH6 | c.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 |
2 | g.47806806A>C | CA426122265 | FBXO11,MSH6 | c.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=) | |
2 | g.47806806A>G | CA426122266 | FBXO11,MSH6 | c.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 |
2 | g.47806806A>T | CA426122267 | FBXO11,MSH6 | c.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 |
2 | g.47806806_47806809dup | CA2739274452 | FBXO11,MSH6 | c.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 |
2 | g.47806808_47806832dup | CA2555354714 | FBXO11,MSH6 | c.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) | |
2 | g.47806806_47806873dup | CA2496054561 | FBXO11,MSH6 | c.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 |
2 | g.47806807A= | CA2496054563 | FBXO11,MSH6 | c.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=) | |
2 | g.47806807A>C | CA346761676 | FBXO11,MSH6 | c.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) | |
2 | g.47806807A>G | CA346761674 | FBXO11,MSH6 | c.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 |
2 | g.47806807A>T | CA346761675 | FBXO11,MSH6 | c.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) | |
2 | g.47806807_47806816delinsACTGTAGATG | CA2496054562 | FBXO11,MSH6 | c.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=) | |
2 | g.47806808C>A | CA346761677 | FBXO11,MSH6 | c.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 |
2 | g.47806808C= | CA2496054564 | FBXO11,MSH6 | c.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=) | |
2 | g.47806808C>G | CA346761678 | FBXO11,MSH6 | c.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 |
2 | g.47806808C>T | CA346761679 | FBXO11,MSH6 | c.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 |
2 | g.47806811_47806819dup | CA2825001145 | FBXO11,MSH6 | c.3737_3745dup (p.Ala1248_Glu1249insValAspAla) c.3650_3658dup (p.Ala1219_Glu1220insValAspAla) n.4708_4716dup c.2468_2476dup (p.Ala825_Glu826insValAspAla) c.4040_4048dup (p.Ala1349_Glu1350insValAspAla) c.1489_1497dup (n.1489_1497dup) c.2807_2815dup (p.Ala938_Glu939insValAspAla) n.3012_3020dup n.2629_2637dup n.2296_2304dup n.2698_2706dup n.1443_1451dup n.3328_3336dup n.3932_3940dup n.4194_4202dup c.4034_4042dup (p.Ala1347_Glu1348insValAspAla) c.3644_3652dup (p.Ala1217_Glu1218insValAspAla) c.169+1379_169+1387dup (n.169+1379_169+1387dup) c.*124+1178_*124+1186dup (n.*124+1178_*124+1186dup) c.*3381_*3389dup (n.*3381_*3389dup) n.3094_3102dup c.3128_3136dup (p.Ala1045_Glu1046insValAspAla) c.935_943dup (p.Ala314_Glu315insValAspAla) c.3851_3859dup (p.Ala1286_Glu1287insValAspAla) c.4127_4135dup (p.Ala1378_Glu1379insValAspAla) c.3944_3952dup (p.Ala1317_Glu1318insValAspAla) c.3830_3838dup (p.Ala1279_Glu1280insValAspAla) c.3221_3229dup (p.Ala1076_Glu1077insValAspAla) | ClinVar |
2 | g.47806811_47806819del | CA348238 | FBXO11,MSH6 | c.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 |
2 | g.47806809T>A | CA426122268 | FBXO11,MSH6 | c.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 |
2 | g.47806809T>C | CA426122270 | FBXO11,MSH6 | c.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=) | |
2 | g.47806809T>G | CA426122269 | FBXO11,MSH6 | c.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=) | |
2 | g.47806810_47806811del | CA2580067593 | FBXO11,MSH6 | c.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 |
2 | g.47806810G>A | CA072821 | FBXO11,MSH6 | c.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 |
2 | g.47806810G>C | CA346761680 | FBXO11,MSH6 | c.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) | |
2 | g.47806810G= | CA2496054565 | FBXO11,MSH6 | c.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=) | |
2 | g.47806810G>T | CA346761681 | FBXO11,MSH6 | c.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 |
2 | g.47806811_47806877dup | CA532705589 | FBXO11,MSH6 | c.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 |
2 | g.47806811T>A | CA346761682 | FBXO11,MSH6 | c.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 |
2 | g.47806811T>C | CA346761684 | FBXO11,MSH6 | c.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 |
2 | g.47806811T>G | CA346761683 | FBXO11,MSH6 | c.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 |
2 | g.47806811T= | CA2496054566 | FBXO11,MSH6 | c.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=) | |
2 | g.47806812_47806818del | CA2573134811 | FBXO11,MSH6 | c.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 |
2 | g.47806812A>C | CA426122271 | FBXO11,MSH6 | c.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=) | |
2 | g.47806812A>G | CA426122272 | FBXO11,MSH6 | c.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 |
2 | g.47806812A>T | CA426122273 | FBXO11,MSH6 | c.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 |
2 | g.47806813G>A | CA072825 | FBXO11,MSH6 | c.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 |
2 | g.47806813G>C | CA346761685 | FBXO11,MSH6 | c.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 |
2 | g.47806813G= | CA2496054567 | FBXO11,MSH6 | c.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=) | |
2 | g.47806813G>T | CA346761686 | FBXO11,MSH6 | c.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 |
2 | g.47806814_47806816dup | CA2576961638 | FBXO11,MSH6 | c.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) | |
2 | g.47806813_47806826dup | CA2580067594 | FBXO11,MSH6 | c.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 |
2 | g.47806814_47806836dup | CA2658970477 | FBXO11,MSH6 | c.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 |
2 | g.47806814A= | CA2496054568 | FBXO11,MSH6 | c.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=) | |
2 | g.47806814A>C | CA346761687 | FBXO11,MSH6 | c.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 |
2 | g.47806814A>G | CA346761688 | FBXO11,MSH6 | c.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 |
2 | g.47806814A>T | CA346761689 | FBXO11,MSH6 | c.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 |
2 | g.47806815T>A | CA346761690 | FBXO11,MSH6 | c.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 |
2 | g.47806815T>C | CA426122274 | FBXO11,MSH6 | c.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=) | |
2 | g.47806815T>G | CA346761691 | FBXO11,MSH6 | c.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 |
2 | g.47806817_47806819del | CA2658970478 | FBXO11,MSH6 | c.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 |
2 | g.47806816G>A | CA346761692 | FBXO11,MSH6 | c.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 |
2 | g.47806816G>C | CA015325 | FBXO11,MSH6 | c.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 |
2 | g.47806816G= | CA2496054569 | FBXO11,MSH6 | c.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=) | |
2 | g.47806816G>T | CA346761693 | FBXO11,MSH6 | c.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 |
2 | g.47806817C>A | CA346761696 | FBXO11,MSH6 | c.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 |
2 | g.47806817C= | CA2496054570 | FBXO11,MSH6 | c.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=) | |
2 | g.47806817C>G | CA346761695 | FBXO11,MSH6 | c.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 |
2 | g.47806817C>T | CA346761694 | FBXO11,MSH6 | c.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 |
2 | g.47806818T>A | CA426122275 | FBXO11,MSH6 | c.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 |
2 | g.47806818T>C | CA426122276 | FBXO11,MSH6 | c.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 |
2 | g.47806818T>G | CA426122277 | FBXO11,MSH6 | c.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=) | |
2 | g.47806818T= | CA2496054571 | FBXO11,MSH6 | c.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=) | |
2 | g.47806819_47806830del | CA2658970479 | FBXO11,MSH6 | c.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 |
2 | g.47806818_47806849dup | CA2582342384 | FBXO11,MSH6 | c.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 |
2 | g.47806820_47806873dup | CA2697548143 | FBXO11,MSH6 | c.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 |
2 | g.47806819G>A | CA346761697 | FBXO11,MSH6 | c.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 |
2 | g.47806819G>C | CA346761699 | FBXO11,MSH6 | c.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 |
2 | g.47806819G= | CA2496054572 | FBXO11,MSH6 | c.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=) | |
2 | g.47806819G>T | CA346761698 | FBXO11,MSH6 | c.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 |
2 | g.47806820A= | CA2496054573 | FBXO11,MSH6 | c.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=) | |
2 | g.47806820A>C | CA346761700 | FBXO11,MSH6 | c.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 |
2 | g.47806820A>G | CA346761702 | FBXO11,MSH6 | c.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) | |
2 | g.47806820A>T | CA346761701 | FBXO11,MSH6 | c.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 |
2 | g.47806821dup | CA1030298037 | FBXO11,MSH6 | c.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 |
2 | g.47806821A= | CA2496054574 | FBXO11,MSH6 | c.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=) | |
2 | g.47806821A>C | CA015340 | FBXO11,MSH6 | c.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 |
2 | g.47806821A>G | CA426122278 | FBXO11,MSH6 | c.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 |
2 | g.47806821A>T | CA346761703 | FBXO11,MSH6 | c.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 |
2 | g.47806822G>A | CA346761704 | FBXO11,MSH6 | c.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 |
2 | g.47806822G>C | CA346761706 | FBXO11,MSH6 | c.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 |
2 | g.47806822G= | CA2496054575 | FBXO11,MSH6 | c.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=) | |
2 | g.47806822G>T | CA346761705 | FBXO11,MSH6 | c.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 |
2 | g.47806823C>A | CA346761707 | FBXO11,MSH6 | c.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 |
2 | g.47806823C>G | CA346761708 | FBXO11,MSH6 | c.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 |
2 | g.47806823C>T | CA346761709 | FBXO11,MSH6 | c.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 |
2 | g.47806824T>A | CA426122279 | FBXO11,MSH6 | c.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 |
2 | g.47806824T>C | CA426122280 | FBXO11,MSH6 | c.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=) | |
2 | g.47806824T>G | CA426122281 | FBXO11,MSH6 | c.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=) | |
2 | g.47806825del | CA2580067596 | FBXO11,MSH6 | c.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 |
2 | g.47806825G>A | CA346761710 | FBXO11,MSH6 | c.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 |
2 | g.47806825G>C | CA072830 | FBXO11,MSH6 | c.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 |
2 | g.47806825G= | CA2496054576 | FBXO11,MSH6 | c.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=) | |
2 | g.47806825G>T | CA346761711 | FBXO11,MSH6 | c.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) | |
2 | g.47806826T>A | CA346761712 | FBXO11,MSH6 | c.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 |
2 | g.47806826T>C | CA346761713 | FBXO11,MSH6 | c.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) | |
2 | g.47806826T>G | CA346761714 | FBXO11,MSH6 | c.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) | |
2 | g.47806826T= | CA2496054577 | FBXO11,MSH6 | c.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=) | |
2 | g.47806826_47806827del | CA2580067598 | FBXO11,MSH6 | c.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 |
2 | g.47806827C>A | CA426122282 | FBXO11,MSH6 | c.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 |
2 | g.47806827C= | CA2496054578 | FBXO11,MSH6 | c.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=) | |
2 | g.47806827C>G | CA426122283 | FBXO11,MSH6 | c.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 |
2 | g.47806827C>T | CA16604209 | FBXO11,MSH6 | c.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 |
2 | g.47806828_47806878dup | CA913188079 | FBXO11,MSH6 | c.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 |
2 | g.47806828C>A | CA346761715 | FBXO11,MSH6 | c.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 |
2 | g.47806828C= | CA2496054579 | FBXO11,MSH6 | c.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=) | |
2 | g.47806828C>G | CA346761716 | FBXO11,MSH6 | c.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 |
2 | g.47806828C>T | CA346761717 | FBXO11,MSH6 | c.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 |
2 | g.47806828_47806832dup | CA658795768 | FBXO11,MSH6 | c.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 |
2 | g.47806828_47806846dup | CA532705590 | FBXO11,MSH6 | c.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 |
2 | g.47806829A= | CA2496054580 | FBXO11,MSH6 | c.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=) | |
2 | g.47806829A>C | CA346761718 | FBXO11,MSH6 | c.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 |
2 | g.47806829A>G | CA346761720 | FBXO11,MSH6 | c.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 |
2 | g.47806829A>T | CA346761719 | FBXO11,MSH6 | c.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 |
2 | g.47806830_47806849dup | CA2573134812 | FBXO11,MSH6 | c.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 |
2 | g.47806830T>A | CA346761721 | FBXO11,MSH6 | c.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 |
2 | g.47806830T>C | CA426122284 | FBXO11,MSH6 | c.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 |
2 | g.47806830T>G | CA346761722 | FBXO11,MSH6 | c.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 |
2 | g.47806830T= | CA2496054581 | FBXO11,MSH6 | c.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=) | |
2 | g.47806830_47806858dup | CA645369290 | FBXO11,MSH6 | c.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 |
2 | g.47806831A= | CA2496054582 | FBXO11,MSH6 | c.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=) | |
2 | g.47806831A>C | CA015349 | FBXO11,MSH6 | c.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 |
2 | g.47806831A>G | CA346761723 | FBXO11,MSH6 | c.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 |
2 | g.47806831A>T | CA346761724 | FBXO11,MSH6 | c.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 |
2 | g.47806831_47806832insTTGCTGTCCA | CA2582342385 | FBXO11,MSH6 | c.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 |
2 | g.47806832_47806840dup | CA2586964964 | FBXO11,MSH6 | c.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) | |
2 | g.47806832_47806846dup | CA2586964965 | FBXO11,MSH6 | c.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) | |
2 | g.47806832_47806870dup | CA916529864 | FBXO11,MSH6 | c.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 |
2 | g.47806832A>C | CA346761725 | FBXO11,MSH6 | c.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 |
2 | g.47806832A>G | CA346761726 | FBXO11,MSH6 | c.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) | |
2 | g.47806832A>T | CA346761727 | FBXO11,MSH6 | c.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) | |
2 | g.47806832_47806834dup | CA2573134813 | FBXO11,MSH6 | c.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 |
2 | g.47806832_47806837dup | CA913188081 | FBXO11,MSH6 | c.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 |
2 | g.47806832_47806877dup | CA913188080 | FBXO11,MSH6 | c.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 |
2 | g.47806833A>C | CA346761728 | FBXO11,MSH6 | c.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 |
2 | g.47806833A>G | CA426122285 | FBXO11,MSH6 | c.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 |
2 | g.47806833A>T | CA346761729 | FBXO11,MSH6 | c.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 |
2 | g.47806834T>A | CA346761731 | FBXO11,MSH6 | c.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 |
2 | g.47806834T>C | CA426122286 | FBXO11,MSH6 | c.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 |
2 | g.47806834T>G | CA346761730 | FBXO11,MSH6 | c.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 |
2 | g.47806835T>A | CA346761732 | FBXO11,MSH6 | c.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) | |
2 | g.47806835T>C | CA346761733 | FBXO11,MSH6 | c.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 |
2 | g.47806835T>G | CA072834 | FBXO11,MSH6 | c.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 |
2 | g.47806835T= | CA2496054583 | FBXO11,MSH6 | c.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=) | |
2 | g.47806836G>A | CA426122287 | FBXO11,MSH6 | c.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 |
2 | g.47806836G>C | CA346761734 | FBXO11,MSH6 | c.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 |
2 | g.47806836G= | CA2496054584 | FBXO11,MSH6 | c.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=) | |
2 | g.47806836G>T | CA346761735 | FBXO11,MSH6 | c.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) | ClinVar dbSNP |
2 | g.47806837C>A | CA346761736 | FBXO11,MSH6 | c.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 |
2 | g.47806837C= | CA2496054585 | FBXO11,MSH6 | c.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=) | |
2 | g.47806837C>G | CA346761737 | FBXO11,MSH6 | c.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 |
2 | g.47806837C>T | CA16604314 | FBXO11,MSH6 | c.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 |
2 | g.47806839_47806842dup | CA191474 | FBXO11,MSH6 | c.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 |
2 | g.47806838del | CA2658970482 | FBXO11,MSH6 | c.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 |
2 | g.47806838T>A | CA015357 | FBXO11,MSH6 | c.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 |
2 | g.47806838T>C | CA015365 | FBXO11,MSH6 | c.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 |
2 | g.47806838T>G | CA346761738 | FBXO11,MSH6 | c.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) | |
2 | g.47806838T= | CA2496054586 | FBXO11,MSH6 | c.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=) | |
2 | g.47806841_47806883dup | CA072844 | FBXO11,MSH6 | c.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 |
2 | g.47806838_47806883dup | CA645509107 | FBXO11,MSH6 | c.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 |
2 | g.47806839G>A | CA426122288 | FBXO11,MSH6 | c.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 |
2 | g.47806839G>C | CA338095 | FBXO11,MSH6 | c.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 |
2 | g.47806839G= | CA2496054587 | FBXO11,MSH6 | c.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=) | |
2 | g.47806839G>T | CA10578177 | FBXO11,MSH6 | c.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 |
2 | g.47806840A>C | CA346761739 | FBXO11,MSH6 | c.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) | |
2 | g.47806840A>G | CA346761740 | FBXO11,MSH6 | c.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 |
2 | g.47806840A>T | CA346761741 | FBXO11,MSH6 | c.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) | |
2 | g.47806840_47806843dup | CA2825001146 | FBXO11,MSH6 | c.3766_3769dup (p.Leu1257TyrfsTer4) c.3679_3682dup (p.Leu1228TyrfsTer4) n.4737_4740dup c.2497_2500dup (p.Leu834TyrfsTer4) c.4069_4072dup (p.Leu1358TyrfsTer4) c.1518_1521dup (n.1518_1521dup) c.2836_2839dup (p.Leu947TyrfsTer4) n.3041_3044dup n.2658_2661dup n.2325_2328dup n.2727_2730dup n.1472_1475dup n.3357_3360dup n.3905_3908dup n.4167_4170dup c.4063_4066dup (p.Leu1356TyrfsTer4) c.3673_3676dup (p.Leu1226TyrfsTer4) c.169+1352_169+1355dup (n.169+1352_169+1355dup) c.*124+1151_*124+1154dup (n.*124+1151_*124+1154dup) c.*3410_*3413dup (n.*3410_*3413dup) n.3067_3070dup c.3157_3160dup (p.Leu1054TyrfsTer4) c.964_967dup (p.Leu323TyrfsTer4) c.3880_3883dup (p.Leu1295TyrfsTer4) c.4156_4159dup (p.Leu1387TyrfsTer4) c.3973_3976dup (p.Leu1326TyrfsTer4) c.3859_3862dup (p.Leu1288TyrfsTer4) c.3250_3253dup (p.Leu1085TyrfsTer4) | ClinVar |
2 | g.47806841C>A | CA346761742 | FBXO11,MSH6 | c.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 |
2 | g.47806841C= | CA2496054588 | FBXO11,MSH6 | c.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=) | |
2 | g.47806841C>G | CA339279 | FBXO11,MSH6 | c.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 |
2 | g.47806841C>T | CA346761743 | FBXO11,MSH6 | c.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 |
2 | g.47806847_47806883del | CA2740095604 | FBXO11,MSH6 | c.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 |
2 | g.47806841_47806842insGTCA | CA015374 | FBXO11,MSH6 | c.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 |
2 | g.47806842T>A | CA426122289 | FBXO11,MSH6 | c.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 |
2 | g.47806842T>C | CA426122290 | FBXO11,MSH6 | c.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 |
2 | g.47806842T>G | CA072852 | FBXO11,MSH6 | c.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 |
2 | g.47806842T= | CA2496054590 | FBXO11,MSH6 | c.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=) | |
2 | g.47806844dup | CA2697548146 | FBXO11,MSH6 | c.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 |
2 | g.47806843_47806844dup | CA2580067601 | FBXO11,MSH6 | c.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 |
2 | g.47806843_47806844del | CA2658970496 | FBXO11,MSH6 | c.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 |
2 | g.47806842_47806846delinsTTTGA | CA2496054589 | FBXO11,MSH6 | c.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=) | |
2 | g.47806844_47806848dup | CA2697548145 | FBXO11,MSH6 | c.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 |
2 | g.47806843T>A | CA346761744 | FBXO11,MSH6 | c.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) | |
2 | g.47806843T>C | CA426122291 | FBXO11,MSH6 | c.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=) | |
2 | g.47806843T>G | CA346761745 | FBXO11,MSH6 | c.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 |
2 | g.47806843T= | CA2496054591 | FBXO11,MSH6 | c.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=) | |
2 | g.47806845_47806846insGTTG | CA015388 | FBXO11,MSH6 | c.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 |
2 | g.47806848_47806849insGATTGATT | CA913188082 | FBXO11,MSH6 | c.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 |
2 | g.47806845_47806848dup | CA015381 | FBXO11,MSH6 | c.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 |
2 | g.47806845_47806848del | CA915943993 | FBXO11,MSH6 | c.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 |
2 | g.47806843_47806862delinsTTGATTAAGGAATTATAGAC | CA2496054592 | FBXO11,MSH6 | c.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=]) | |
2 | g.47806843_47806844insAA | CA769469018 | FBXO11,MSH6 | c.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 |
2 | g.47806844T>A | CA346761748 | FBXO11,MSH6 | c.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 |
2 | g.47806844T>C | CA346761747 | FBXO11,MSH6 | c.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 |
2 | g.47806844T>G | CA346761746 | FBXO11,MSH6 | c.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) | ClinVar |
2 | g.47806844T= | CA2496054593 | FBXO11,MSH6 | c.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=) | |
2 | g.47806844_47806845del | CA1030298121 | FBXO11,MSH6 | c.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 |
2 | g.47806844_47806848delinsAATCA | CA16617727 | FBXO11,MSH6 | c.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 |
2 | g.47806847_47806865del | CA915943994 | FBXO11,MSH6 | c.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 |
2 | g.47806844_47806887dup | CA2573134814 | FBXO11,MSH6 | c.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 |
2 | g.47806845G>A | CA015408 | FBXO11,MSH6 | c.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 |
2 | g.47806845G>C | CA015417 | FBXO11,MSH6 | c.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 |
2 | g.47806845G= | CA2496054594 | FBXO11,MSH6 | c.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=) | |
2 | g.47806845G>T | CA346761749 | FBXO11,MSH6 | c.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 |
2 | g.47806845dup | CA2499216157 | FBXO11,MSH6 | c.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 |
2 | g.47806845_47806849dup | CA2580067603 | FBXO11,MSH6 | c.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 |
2 | g.47806845_47806861dup | CA658655789 | FBXO11,MSH6 | c.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 |
2 | g.47806845_47806869delinsGATTAAGGAATTATAGACTGACTAC | CA2496054595 | FBXO11,MSH6 | c.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=]) | |
2 | g.47806845_47806875delinsGATTAAGGAATTATAGACTGACTACATTGGA | CA2496054596 | FBXO11,MSH6 | c.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=]) | |
2 | g.47806845_47806882dup | CA532705591 | FBXO11,MSH6 | c.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 |
2 | g.47806846_47806900dup | CA2573134815 | FBXO11,MSH6 | c.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 |
2 | g.47806845_47806846insGATT | CA015396 | FBXO11,MSH6 | c.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 |
2 | g.47806846A>C | CA346761752 | FBXO11,MSH6 | c.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 |
2 | g.47806846A>G | CA346761751 | FBXO11,MSH6 | c.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 |
2 | g.47806846A>T | CA346761750 | FBXO11,MSH6 | c.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) | |
2 | g.47806846_47806847dup | CA2580067604 | FBXO11,MSH6 | c.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 |
2 | g.47806846_47806848delinsATT | CA2496054597 | FBXO11,MSH6 | c.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=) | |
2 | g.47806850_47806857dup | CA10577300 | FBXO11,MSH6 | c.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 |
2 | g.47806846_47806859dup | CA2580067605 | FBXO11,MSH6 | c.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 |
2 | g.47806849_47806872del | CA658655790 | FBXO11,MSH6 | c.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 |
2 | g.47806847_47806876del | CA2496054598 | FBXO11,MSH6 | c.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 |
2 | g.47806847T>A | CA346761753 | FBXO11,MSH6 | c.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 |
2 | g.47806847T>C | CA346761754 | FBXO11,MSH6 | c.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 |
2 | g.47806847T>G | CA346761755 | FBXO11,MSH6 | c.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 |
2 | g.47806847T= | CA2496054600 | FBXO11,MSH6 | c.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=) | |
2 | g.47806847_47806848del | CA769469056 | FBXO11,MSH6 | c.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 |
2 | g.47806847_47806857delinsTTAAGGAATTA | CA2496054599 | FBXO11,MSH6 | c.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=) | |
2 | g.47806848T>A | CA426122293 | FBXO11,MSH6 | c.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=) | |
2 | g.47806848T>C | CA426122292 | FBXO11,MSH6 | c.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=) | |
2 | g.47806848T>G | CA346761756 | FBXO11,MSH6 | c.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 |
2 | g.47806848T= | CA2496054601 | FBXO11,MSH6 | c.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=) | |
2 | g.47806848_47806849insGACT | CA2699336373 | FBXO11,MSH6 | c.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 |
2 | g.47806848_47806851dup | CA015459 | FBXO11,MSH6 | c.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 |
2 | g.47806850_47806859del | CA1139656957 | FBXO11,MSH6 | c.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 |
2 | g.47806848_47806861dup | CA2580067607 | FBXO11,MSH6 | c.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 |
2 | g.47806848_47806864dup | CA532705592 | FBXO11,MSH6 | c.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 |
2 | g.47806848_47806868dup | CA2658970555 | FBXO11,MSH6 | c.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 |
2 | g.47806848_47806869dup | CA916529873 | FBXO11,MSH6 | c.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 |
2 | g.47806848_47806849insCA | CA1030298153 | FBXO11,MSH6 | c.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 |
2 | g.47806848_47806849insTTGA | CA46720448 | FBXO11,MSH6 | c.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) | |
2 | g.47806849A= | CA2496054602 | FBXO11,MSH6 | c.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=) | |
2 | g.47806849A>C | CA346761757 | FBXO11,MSH6 | c.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) | |
2 | g.47806849A>G | CA015447 | FBXO11,MSH6 | c.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 |
2 | g.47806849A>T | CA346761758 | FBXO11,MSH6 | c.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 |
2 | g.47806850dup | CA2499216158 | FBXO11,MSH6 | c.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 |
2 | g.47806849_47806851del | CA2580067608 | FBXO11,MSH6 | c.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 |
2 | g.47806850A= | CA2496054603 | FBXO11,MSH6 | c.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=) | |
2 | g.47806850A>C | CA346761759 | FBXO11,MSH6 | c.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) | |
2 | g.47806850A>G | CA346761761 | FBXO11,MSH6 | c.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 |
2 | g.47806850A>T | CA346761760 | FBXO11,MSH6 | c.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) | |
2 | g.47806851_47806865del | CA2576961640 | FBXO11,MSH6 | c.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 |
2 | g.47806850_47806893dup | CA532705593 | FBXO11,MSH6 | c.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 |
2 | g.47806851_47806897dup | CA2573134816 | FBXO11,MSH6 | c.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 |
2 | g.47806851G>A | CA16604315 | FBXO11,MSH6 | c.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 |
2 | g.47806851G>C | CA346761763 | FBXO11,MSH6 | c.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 |
2 | g.47806851G= | CA2496054604 | FBXO11,MSH6 | c.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=) | |
2 | g.47806851G>T | CA072859 | FBXO11,MSH6 | c.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 |
2 | g.47806851_47806852insAATT | CA46720461 | FBXO11,MSH6 | c.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) | |
2 | g.47806852G>A | CA015469 | FBXO11,MSH6 | c.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 |
2 | g.47806852G>C | CA346761764 | FBXO11,MSH6 | c.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 |
2 | g.47806852G= | CA2496054605 | FBXO11,MSH6 | c.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=) | |
2 | g.47806852G>T | CA46720457 | FBXO11,MSH6 | c.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 |
2 | g.47806853A= | CA2496054606 | FBXO11,MSH6 | c.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=) | |
2 | g.47806853A>C | CA346761767 | FBXO11,MSH6 | c.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 |
2 | g.47806853A>G | CA346761766 | FBXO11,MSH6 | c.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) | |
2 | g.47806853A>T | CA346761765 | FBXO11,MSH6 | c.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) | |
2 | g.47806854_47806857dup | CA168712 | FBXO11,MSH6 | c.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 |
2 | g.47806853_47806854insGGACC | CA2699336783 | FBXO11,MSH6 | c.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 |
2 | g.47806854A>C | CA346761769 | FBXO11,MSH6 | c.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) | |
2 | g.47806854A>G | CA425998815 | FBXO11,MSH6 | c.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 |
2 | g.47806854A>T | CA346761768 | FBXO11,MSH6 | c.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 |
2 | g.47806854_47806855insATTA | CA2586964969 | FBXO11,MSH6 | c.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) | |
2 | g.47806856_47806858dup | CA16617728 | FBXO11,MSH6 | c.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 |
2 | g.47806854_47806878delinsATTATAGACTGACTACATTGGAAGC | CA2496054607 | FBXO11,MSH6 | c.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=]) | |
2 | g.47806855T>A | CA346761770 | FBXO11,MSH6 | c.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 |
2 | g.47806855T>C | CA425998818 | FBXO11,MSH6 | c.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 |
2 | g.47806855T>G | CA346761771 | FBXO11,MSH6 | c.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) | |
2 | g.47806855T= | CA2496054609 | FBXO11,MSH6 | c.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=) | |
2 | g.47806855_47806857delinsTTA | CA2496054608 | FBXO11,MSH6 | c.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=) | |
2 | g.47806857_47806880del | CA165406 | FBXO11,MSH6 | c.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 |
2 | g.47806856T>A | CA346761772 | FBXO11,MSH6 | c.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) | |
2 | g.47806856T>C | CA346761773 | FBXO11,MSH6 | c.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 |
2 | g.47806856T>G | CA346761774 | FBXO11,MSH6 | c.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) | |
2 | g.47806858_47806859dup | CA2658970591 | FBXO11,MSH6 | c.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 |
2 | g.47806858_47806859del | CA336708 | FBXO11,MSH6 | c.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 |
2 | g.47806856_47806868dup | CA2658970589 | FBXO11,MSH6 | c.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 |
2 | g.47806856_47806869delinsTATAGACTGACTAC | CA2496054610 | FBXO11,MSH6 | c.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=]) | |
2 | g.47806856_47806869dup | CA913188083 | FBXO11,MSH6 | c.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 |
2 | g.47806857A= | CA2496054611 | FBXO11,MSH6 | c.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=) | |
2 | g.47806857A>C | CA346761775 | FBXO11,MSH6 | c.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) | |
2 | g.47806857A>G | CA425998824 | FBXO11,MSH6 | c.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=) | ClinVar dbSNP gnomAD v4 |
2 | g.47806857A>T | CA346761776 | FBXO11,MSH6 | c.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) | |
2 | g.47806859_47806871del | CA16617729 | FBXO11,MSH6 | c.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 |
2 | g.47806858T>A | CA346761778 | FBXO11,MSH6 | c.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 |
2 | g.47806858T>C | CA072869 | FBXO11,MSH6 | c.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 |
2 | g.47806858T>G | CA346761777 | FBXO11,MSH6 | c.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 |
2 | g.47806858T= | CA2496054612 | FBXO11,MSH6 | c.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=) | |
2 | g.47806858dup | CA16610990 | FBXO11,MSH6 | c.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 |
2 | g.47806858_47806859delinsTA | CA2496054613 | FBXO11,MSH6 | c.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=) | |
2 | g.47806859_47806863dup | CA913188084 | FBXO11,MSH6 | c.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 |
2 | g.47806859del | CA658795769 | FBXO11,MSH6 | c.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 |
2 | g.47806859A= | CA2496054615 | FBXO11,MSH6 | c.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=) | |
2 | g.47806859A>C | CA346761779 | FBXO11,MSH6 | c.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) | |
2 | g.47806859A>G | CA346761780 | FBXO11,MSH6 | c.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 |
2 | g.47806859A>T | CA46720482 | FBXO11,MSH6 | c.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 |
2 | g.47806859_47806862dup | CA915943995 | FBXO11,MSH6 | c.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 |
2 | g.47806859_47806863delinsAGACT | CA2496054614 | FBXO11,MSH6 | c.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=]) | |
2 | g.47806859_47806868dup | CA2573051978 | FBXO11,MSH6 | c.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 |
2 | g.47806860G>A | CA425998848 | FBXO11,MSH6 | c.3786G>A (p.Ter1262=) c.3699G>A (p.Ter1233=) n.4757G>A c.2517G>A (p.Ter839=) c.4089G>A (p.Ter1363=) c.1538G>A (n.1538G>A) c.2856G>A (p.Ter952=) n.3061G>A n.2678G>A n.2345G>A n.2747G>A n.1492G>A n.3377G>A n.3888C>T n.4150C>T c.4083G>A (p.Ter1361=) c.3693G>A (p.Ter1231=) c.169+1335C>T (n.169+1335C>T) c.*124+1134C>T (n.*124+1134C>T) c.*3430G>A (n.*3430G>A) n.3050C>T c.3177G>A (p.Ter1059=) c.984G>A (p.Ter328=) c.3900G>A (p.Ter1300=) c.4176G>A (p.Ter1392=) c.3993G>A (p.Ter1331=) c.3879G>A (p.Ter1293=) c.3270G>A (p.Ter1090=) | ClinVar dbSNP |
2 | g.47806860G>C | CA346761781 | FBXO11,MSH6 | c.3786G>C (p.Ter1262Tyr) c.3699G>C (p.Ter1233Tyr) n.4757G>C c.2517G>C (p.Ter839Tyr) c.4089G>C (p.Ter1363Tyr) c.1538G>C (n.1538G>C) c.2856G>C (p.Ter952Tyr) n.3061G>C n.2678G>C n.2345G>C n.2747G>C n.1492G>C n.3377G>C n.3888C>G n.4150C>G c.4083G>C (p.Ter1361Tyr) c.3693G>C (p.Ter1231Tyr) c.169+1335C>G (n.169+1335C>G) c.*124+1134C>G (n.*124+1134C>G) c.*3430G>C (n.*3430G>C) n.3050C>G c.3177G>C (p.Ter1059Tyr) c.984G>C (p.Ter328Tyr) c.3900G>C (p.Ter1300Tyr) c.4176G>C (p.Ter1392Tyr) c.3993G>C (p.Ter1331Tyr) c.3879G>C (p.Ter1293Tyr) c.3270G>C (p.Ter1090Tyr) | ClinVar dbSNP gnomAD v4 COSMIC |
2 | g.47806860G= | CA2496054616 | FBXO11,MSH6 | c.3786G= (p.Ter1262=) c.3699G= (p.Ter1233=) n.4757G= c.2517G= (p.Ter839=) c.4089G= (p.Ter1363=) c.1538G= (n.1538G=) c.2856G= (p.Ter952=) n.3061G= n.2678G= n.2345G= n.2747G= n.1492G= n.3377G= n.3888C= n.4150C= c.4083G= (p.Ter1361=) c.3693G= (p.Ter1231=) c.169+1335C= (n.169+1335C=) c.*124+1134C= (n.*124+1134C=) c.*3430G= (n.*3430G=) n.3050C= c.3177G= (p.Ter1059=) c.984G= (p.Ter328=) c.3900G= (p.Ter1300=) c.4176G= (p.Ter1392=) c.3993G= (p.Ter1331=) c.3879G= (p.Ter1293=) c.3270G= (p.Ter1090=) | |
2 | g.47806860G>T | CA346761782 | FBXO11,MSH6 | c.3786G>T (p.Ter1262Tyr) c.3699G>T (p.Ter1233Tyr) n.4757G>T c.2517G>T (p.Ter839Tyr) c.4089G>T (p.Ter1363Tyr) c.1538G>T (n.1538G>T) c.2856G>T (p.Ter952Tyr) n.3061G>T n.2678G>T n.2345G>T n.2747G>T n.1492G>T n.3377G>T n.3888C>A n.4150C>A c.4083G>T (p.Ter1361Tyr) c.3693G>T (p.Ter1231Tyr) c.169+1335C>A (n.169+1335C>A) c.*124+1134C>A (n.*124+1134C>A) c.*3430G>T (n.*3430G>T) n.3050C>A c.3177G>T (p.Ter1059Tyr) c.984G>T (p.Ter328Tyr) c.3900G>T (p.Ter1300Tyr) c.4176G>T (p.Ter1392Tyr) c.3993G>T (p.Ter1331Tyr) c.3879G>T (p.Ter1293Tyr) c.3270G>T (p.Ter1090Tyr) | |
2 | g.47806860dup | CA2739292176 | FBXO11,MSH6 | c.3786dup (n.3786dup) c.3699dup (n.3699dup) n.4757dup c.2517dup (n.2517dup) c.4089dup (n.4089dup) c.1538dup (n.1538dup) c.2856dup (n.2856dup) n.3061dup n.2678dup n.2345dup n.2747dup n.1492dup n.3377dup n.3888dup n.4150dup c.4083dup (n.4083dup) c.3693dup (n.3693dup) c.169+1335dup (n.169+1335dup) c.*124+1134dup (n.*124+1134dup) c.*3430dup (n.*3430dup) n.3050dup c.3177dup (n.3177dup) c.984dup (n.984dup) c.3900dup (n.3900dup) c.4176dup (n.4176dup) c.3993dup (n.3993dup) c.3879dup (n.3879dup) c.3270dup (n.3270dup) | |
2 | g.47806864_47806867dup | CA1649517 | FBXO11,MSH6 | c.*4_*7dup (n.*4_*7dup) n.4761_4764dup c.1542_1545dup (n.1542_1545dup) c.2860_2863dup (n.2860_2863dup) n.2682_2685dup n.2349_2352dup n.2751_2754dup n.1496_1499dup n.3381_3384dup n.3885_3888dup n.4147_4150dup c.169+1332_169+1335dup (n.169+1332_169+1335dup) c.*124+1131_*124+1134dup (n.*124+1131_*124+1134dup) c.*3434_*3437dup (n.*3434_*3437dup) n.3047_3050dup | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.47806864_47806867del | CA1649518 | FBXO11,MSH6 | c.*4_*7del (n.*4_*7del) n.4761_4764del c.1542_1545del (n.1542_1545del) c.2860_2863del (n.2860_2863del) n.2682_2685del n.2349_2352del n.2751_2754del n.1496_1499del n.3381_3384del n.3885_3888del n.4147_4150del c.169+1332_169+1335del (n.169+1332_169+1335del) c.*124+1131_*124+1134del (n.*124+1131_*124+1134del) c.*3434_*3437del (n.*3434_*3437del) n.3047_3050del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.47806860_47806861insCTAT | CA16617730 | FBXO11,MSH6 | c.3786_*1insCTAT (n.3786_*1insCTAT) c.3699_*1insCTAT (n.3699_*1insCTAT) n.4757_4758insCTAT c.2517_*1insCTAT (n.2517_*1insCTAT) c.4089_*1insCTAT (n.4089_*1insCTAT) c.1538_1539insCTAT (n.1538_1539insCTAT) c.2856_2857insCTAT (n.2856_2857insCTAT) n.3061_3062insCTAT n.2678_2679insCTAT n.2345_2346insCTAT n.2747_2748insCTAT n.1492_1493insCTAT n.3377_3378insCTAT n.3887_3888insATAG n.4149_4150insATAG c.4083_*1insCTAT (n.4083_*1insCTAT) c.3693_*1insCTAT (n.3693_*1insCTAT) c.169+1334_169+1335insATAG (n.169+1334_169+1335insATAG) c.*124+1133_*124+1134insATAG (n.*124+1133_*124+1134insATAG) c.*3430_*3431insCTAT (n.*3430_*3431insCTAT) n.3049_3050insATAG c.3177_*1insCTAT (n.3177_*1insCTAT) c.984_*1insCTAT (n.984_*1insCTAT) c.3900_*1insCTAT (n.3900_*1insCTAT) c.4176_*1insCTAT (n.4176_*1insCTAT) c.3993_*1insCTAT (n.3993_*1insCTAT) c.3879_*1insCTAT (n.3879_*1insCTAT) c.3270_*1insCTAT (n.3270_*1insCTAT) | ClinVar dbSNP |
2 | g.47806861A= | CA2496054617 | FBXO11,MSH6 | c.*1A= (n.*1A=) n.4758A= c.1539A= (n.1539A=) c.2857A= (n.2857A=) n.3062A= n.2679A= n.2346A= n.2748A= n.1493A= n.3378A= n.3887T= n.4149T= c.169+1334T= (n.169+1334T=) c.*124+1133T= (n.*124+1133T=) c.*3431A= (n.*3431A=) n.3049T= | |
2 | g.47806861A>C | CA2658970615 | FBXO11,MSH6 | c.*1A>C (n.*1A>C) n.4758A>C c.1539A>C (n.1539A>C) c.2857A>C (n.2857A>C) n.3062A>C n.2679A>C n.2346A>C n.2748A>C n.1493A>C n.3378A>C n.3887T>G n.4149T>G c.169+1334T>G (n.169+1334T>G) c.*124+1133T>G (n.*124+1133T>G) c.*3431A>C (n.*3431A>C) n.3049T>G | gnomAD v4 |
2 | g.47806861A>G | CA009540 | FBXO11,MSH6 | c.*1A>G (n.*1A>G) n.4758A>G c.1539A>G (n.1539A>G) c.2857A>G (n.2857A>G) n.3062A>G n.2679A>G n.2346A>G n.2748A>G n.1493A>G n.3378A>G n.3887T>C n.4149T>C c.169+1334T>C (n.169+1334T>C) c.*124+1133T>C (n.*124+1133T>C) c.*3431A>G (n.*3431A>G) n.3049T>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.47806861A>T | CA2699080531 | FBXO11,MSH6 | c.*1A>T (n.*1A>T) n.4758A>T c.1539A>T (n.1539A>T) c.2857A>T (n.2857A>T) n.3062A>T n.2679A>T n.2346A>T n.2748A>T n.1493A>T n.3378A>T n.3887T>A n.4149T>A c.169+1334T>A (n.169+1334T>A) c.*124+1133T>A (n.*124+1133T>A) c.*3431A>T (n.*3431A>T) n.3049T>A | dbSNP |
2 | g.47806862C>A | CA2658970616 | FBXO11,MSH6 | c.*2C>A (n.*2C>A) n.4759C>A c.1540C>A (n.1540C>A) c.2858C>A (n.2858C>A) n.3063C>A n.2680C>A n.2347C>A n.2749C>A n.1494C>A n.3379C>A n.3886G>T n.4148G>T c.169+1333G>T (n.169+1333G>T) c.*124+1132G>T (n.*124+1132G>T) c.*3432C>A (n.*3432C>A) n.3048G>T | dbSNP gnomAD v4 |
2 | g.47806862C= | CA2496054618 | FBXO11,MSH6 | c.*2C= (n.*2C=) n.4759C= c.1540C= (n.1540C=) c.2858C= (n.2858C=) n.3063C= n.2680C= n.2347C= n.2749C= n.1494C= n.3379C= n.3886G= n.4148G= c.169+1333G= (n.169+1333G=) c.*124+1132G= (n.*124+1132G=) c.*3432C= (n.*3432C=) n.3048G= | |
2 | g.47806862C>G | CA2699081004 | FBXO11,MSH6 | c.*2C>G (n.*2C>G) n.4759C>G c.1540C>G (n.1540C>G) c.2858C>G (n.2858C>G) n.3063C>G n.2680C>G n.2347C>G n.2749C>G n.1494C>G n.3379C>G n.3886G>C n.4148G>C c.169+1333G>C (n.169+1333G>C) c.*124+1132G>C (n.*124+1132G>C) c.*3432C>G (n.*3432C>G) n.3048G>C | dbSNP |
2 | g.47806862C>T | CA069945 | FBXO11,MSH6 | c.*2C>T (n.*2C>T) n.4759C>T c.1540C>T (n.1540C>T) c.2858C>T (n.2858C>T) n.3063C>T n.2680C>T n.2347C>T n.2749C>T n.1494C>T n.3379C>T n.3886G>A n.4148G>A c.169+1333G>A (n.169+1333G>A) c.*124+1132G>A (n.*124+1132G>A) c.*3432C>T (n.*3432C>T) n.3048G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.47806862_47806871delinsCTGACTACAT | CA2496054619 | FBXO11,MSH6 | c.*2_*11delinsCTGACTACAT (n.*2_*11delinsCTGACTACAT) n.4759_4768delinsCTGACTACAT c.1540_1549delinsCTGACTACAT (n.1540_1549delinsCTGACTACAT) c.2858_2867delinsCTGACTACAT (n.2858_2867delinsCTGACTACAT) n.2680_2689delinsCTGACTACAT n.2347_2356delinsCTGACTACAT n.2749_2758delinsCTGACTACAT n.1494_1503delinsCTGACTACAT n.3379_3388delinsCTGACTACAT n.3877_3886delinsATGTAGTCAG n.4139_4148delinsATGTAGTCAG c.169+1324_169+1333delinsATGTAGTCAG (n.169+1324_169+1333delinsATGTAGTCAG) c.*124+1123_*124+1132delinsATGTAGTCAG (n.*124+1123_*124+1132delinsATGTAGTCAG) c.*3432_*3441delinsCTGACTACAT (n.*3432_*3441delinsCTGACTACAT) n.3039_3048delinsATGTAGTCAG | |
2 | g.47806863T>A | CA2699082963 | FBXO11,MSH6 | c.*3T>A (n.*3T>A) n.4760T>A c.1541T>A (n.1541T>A) c.2859T>A (n.2859T>A) n.3064T>A n.2681T>A n.2348T>A n.2750T>A n.1495T>A n.3380T>A n.3885A>T n.4147A>T c.169+1332A>T (n.169+1332A>T) c.*124+1131A>T (n.*124+1131A>T) c.*3433T>A (n.*3433T>A) n.3047A>T | dbSNP |
2 | g.47806863T>C | CA015085 | FBXO11,MSH6 | c.*3T>C (n.*3T>C) n.4760T>C c.1541T>C (n.1541T>C) c.2859T>C (n.2859T>C) n.3064T>C n.2681T>C n.2348T>C n.2750T>C n.1495T>C n.3380T>C n.3885A>G n.4147A>G c.169+1332A>G (n.169+1332A>G) c.*124+1131A>G (n.*124+1131A>G) c.*3433T>C (n.*3433T>C) n.3047A>G | ClinVar dbSNP |
2 | g.47806863T= | CA2496054620 | FBXO11,MSH6 | c.*3T= (n.*3T=) n.4760T= c.1541T= (n.1541T=) c.2859T= (n.2859T=) n.3064T= n.2681T= n.2348T= n.2750T= n.1495T= n.3380T= n.3885A= n.4147A= c.169+1332A= (n.169+1332A=) c.*124+1131A= (n.*124+1131A=) c.*3433T= (n.*3433T=) n.3047A= | |
2 | g.47806863dup | CA1139656960 | FBXO11,MSH6 | c.*3dup (n.*3dup) n.4760dup c.1541dup (n.1541dup) c.2859dup (n.2859dup) n.3064dup n.2681dup n.2348dup n.2750dup n.1495dup n.3380dup n.3885dup n.4147dup c.169+1332dup (n.169+1332dup) c.*124+1131dup (n.*124+1131dup) c.*3433dup (n.*3433dup) n.3047dup | ClinVar dbSNP |
2 | g.47806865_47806873del | CA46720485 | FBXO11,MSH6 | c.*5_*13del (n.*5_*13del) n.4762_4770del c.1543_1551del (n.1543_1551del) c.2861_2869del (n.2861_2869del) n.2683_2691del n.2350_2358del n.2752_2760del n.1497_1505del n.3382_3390del n.3877_3885del n.4139_4147del c.169+1324_169+1332del (n.169+1324_169+1332del) c.*124+1123_*124+1131del (n.*124+1123_*124+1131del) c.*3435_*3443del (n.*3435_*3443del) n.3039_3047del | dbSNP |
2 | g.47806863_47806877dup | CA2658970618 | FBXO11,MSH6 | c.*3_*17dup (n.*3_*17dup) n.4760_4774dup c.1541_1555dup (n.1541_1555dup) c.2859_2873dup (n.2859_2873dup) n.2681_2695dup n.2348_2362dup n.2750_2764dup n.1495_1509dup n.3380_3394dup n.3871_3885dup n.4133_4147dup c.169+1318_169+1332dup (n.169+1318_169+1332dup) c.*124+1117_*124+1131dup (n.*124+1117_*124+1131dup) c.*3433_*3447dup (n.*3433_*3447dup) n.3033_3047dup | gnomAD v4 |
2 | g.47806866_47806883dup | CA2658970619 | FBXO11,MSH6 | c.*6_*23dup (n.*6_*23dup) n.4763_4780dup c.1544_1561dup (n.1544_1561dup) c.2862_2879dup (n.2862_2879dup) n.2684_2701dup n.2351_2368dup n.2753_2770dup n.1498_1515dup n.3383_3400dup n.3868_3885dup n.4130_4147dup c.169+1315_169+1332dup (n.169+1315_169+1332dup) c.*124+1114_*124+1131dup (n.*124+1114_*124+1131dup) c.*3436_*3453dup (n.*3436_*3453dup) n.3030_3047dup | gnomAD v4 |
2 | g.47806864G>A | CA2658970621 | FBXO11,MSH6 | c.*4G>A (n.*4G>A) n.4761G>A c.1542G>A (n.1542G>A) c.2860G>A (n.2860G>A) n.3065G>A n.2682G>A n.2349G>A n.2751G>A n.1496G>A n.3381G>A n.3884C>T n.4146C>T c.169+1331C>T (n.169+1331C>T) c.*124+1130C>T (n.*124+1130C>T) c.*3434G>A (n.*3434G>A) n.3046C>T | dbSNP gnomAD v4 |
2 | g.47806864G>C | CA2699336919 | FBXO11,MSH6 | c.*4G>C (n.*4G>C) n.4761G>C c.1542G>C (n.1542G>C) c.2860G>C (n.2860G>C) n.3065G>C n.2682G>C n.2349G>C n.2751G>C n.1496G>C n.3381G>C n.3884C>G n.4146C>G c.169+1331C>G (n.169+1331C>G) c.*124+1130C>G (n.*124+1130C>G) c.*3434G>C (n.*3434G>C) n.3046C>G | dbSNP |
2 | g.47806864G= | CA2496054621 | FBXO11,MSH6 | c.*4G= (n.*4G=) n.4761G= c.1542G= (n.1542G=) c.2860G= (n.2860G=) n.3065G= n.2682G= n.2349G= n.2751G= n.1496G= n.3381G= n.3884C= n.4146C= c.169+1331C= (n.169+1331C=) c.*124+1130C= (n.*124+1130C=) c.*3434G= (n.*3434G=) n.3046C= | |
2 | g.47806864_47806866dup | CA16617731 | FBXO11,MSH6 | c.*4_*6dup (n.*4_*6dup) n.4761_4763dup c.1542_1544dup (n.1542_1544dup) c.2860_2862dup (n.2860_2862dup) n.2682_2684dup n.2349_2351dup n.2751_2753dup n.1496_1498dup n.3381_3383dup n.3882_3884dup n.4144_4146dup c.169+1329_169+1331dup (n.169+1329_169+1331dup) c.*124+1128_*124+1130dup (n.*124+1128_*124+1130dup) c.*3434_*3436dup (n.*3434_*3436dup) n.3044_3046dup | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.47806865A= | CA2496054622 | FBXO11,MSH6 | c.*5A= (n.*5A=) n.4762A= c.1543A= (n.1543A=) c.2861A= (n.2861A=) n.3066A= n.2683A= n.2350A= n.2752A= n.1497A= n.3382A= n.3883T= n.4145T= c.169+1330T= (n.169+1330T=) c.*124+1129T= (n.*124+1129T=) c.*3435A= (n.*3435A=) n.3045T= | |
2 | g.47806865A>G | CA532354413 | FBXO11,MSH6 | c.*5A>G (n.*5A>G) n.4762A>G c.1543A>G (n.1543A>G) c.2861A>G (n.2861A>G) n.3066A>G n.2683A>G n.2350A>G n.2752A>G n.1497A>G n.3382A>G n.3883T>C n.4145T>C c.169+1330T>C (n.169+1330T>C) c.*124+1129T>C (n.*124+1129T>C) c.*3435A>G (n.*3435A>G) n.3045T>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.47806865A>T | CA2699098408 | FBXO11,MSH6 | c.*5A>T (n.*5A>T) n.4762A>T c.1543A>T (n.1543A>T) c.2861A>T (n.2861A>T) n.3066A>T n.2683A>T n.2350A>T n.2752A>T n.1497A>T n.3382A>T n.3883T>A n.4145T>A c.169+1330T>A (n.169+1330T>A) c.*124+1129T>A (n.*124+1129T>A) c.*3435A>T (n.*3435A>T) n.3045T>A | dbSNP |
2 | g.47806865_47806879dup | CA532354412 | FBXO11,MSH6 | c.*5_*19dup (n.*5_*19dup) n.4762_4776dup c.1543_1557dup (n.1543_1557dup) c.2861_2875dup (n.2861_2875dup) n.2683_2697dup n.2350_2364dup n.2752_2766dup n.1497_1511dup n.3382_3396dup n.3869_3883dup n.4131_4145dup c.169+1316_169+1330dup (n.169+1316_169+1330dup) c.*124+1115_*124+1129dup (n.*124+1115_*124+1129dup) c.*3435_*3449dup (n.*3435_*3449dup) n.3031_3045dup | dbSNP gnomAD v2 gnomAD v4 |
2 | g.47806866C>A | CA2658970623 | FBXO11,MSH6 | c.*6C>A (n.*6C>A) n.4763C>A c.1544C>A (n.1544C>A) c.2862C>A (n.2862C>A) n.3067C>A n.2684C>A n.2351C>A n.2753C>A n.1498C>A n.3383C>A n.3882G>T n.4144G>T c.169+1329G>T (n.169+1329G>T) c.*124+1128G>T (n.*124+1128G>T) c.*3436C>A (n.*3436C>A) n.3044G>T | dbSNP gnomAD v4 |
2 | g.47806866C= | CA2496054623 | FBXO11,MSH6 | c.*6C= (n.*6C=) n.4763C= c.1544C= (n.1544C=) c.2862C= (n.2862C=) n.3067C= n.2684C= n.2351C= n.2753C= n.1498C= n.3383C= n.3882G= n.4144G= c.169+1329G= (n.169+1329G=) c.*124+1128G= (n.*124+1128G=) c.*3436C= (n.*3436C=) n.3044G= | |
2 | g.47806866C>G | CA2699081486 | FBXO11,MSH6 | c.*6C>G (n.*6C>G) n.4763C>G c.1544C>G (n.1544C>G) c.2862C>G (n.2862C>G) n.3067C>G n.2684C>G n.2351C>G n.2753C>G n.1498C>G n.3383C>G n.3882G>C n.4144G>C c.169+1329G>C (n.169+1329G>C) c.*124+1128G>C (n.*124+1128G>C) c.*3436C>G (n.*3436C>G) n.3044G>C | dbSNP |
2 | g.47806866C>T | CA073355 | FBXO11,MSH6 | c.*6C>T (n.*6C>T) n.4763C>T c.1544C>T (n.1544C>T) c.2862C>T (n.2862C>T) n.3067C>T n.2684C>T n.2351C>T n.2753C>T n.1498C>T n.3383C>T n.3882G>A n.4144G>A c.169+1329G>A (n.169+1329G>A) c.*124+1128G>A (n.*124+1128G>A) c.*3436C>T (n.*3436C>T) n.3044G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.47806867T>A | CA2658970624 | FBXO11,MSH6 | c.*7T>A (n.*7T>A) n.4764T>A c.1545T>A (n.1545T>A) c.2863T>A (n.2863T>A) n.2685T>A n.2352T>A n.2754T>A n.1499T>A n.3384T>A n.3881A>T n.4143A>T c.169+1328A>T (n.169+1328A>T) c.*124+1127A>T (n.*124+1127A>T) c.*3437T>A (n.*3437T>A) n.3043A>T | dbSNP gnomAD v4 |
2 | g.47806867T>C | CA2699336922 | FBXO11,MSH6 | c.*7T>C (n.*7T>C) n.4764T>C c.1545T>C (n.1545T>C) c.2863T>C (n.2863T>C) n.2685T>C n.2352T>C n.2754T>C n.1499T>C n.3384T>C n.3881A>G n.4143A>G c.169+1328A>G (n.169+1328A>G) c.*124+1127A>G (n.*124+1127A>G) c.*3437T>C (n.*3437T>C) n.3043A>G | dbSNP |
2 | g.47806868A= | CA2496054624 | FBXO11,MSH6 | c.*8A= (n.*8A=) n.4765A= c.1546A= (n.1546A=) c.2864A= (n.2864A=) n.2686A= n.2353A= n.2755A= n.1500A= n.3385A= n.3880T= n.4142T= c.169+1327T= (n.169+1327T=) c.*124+1126T= (n.*124+1126T=) c.*3438A= (n.*3438A=) n.3042T= | |
2 | g.47806868A>G | CA913188085 | FBXO11,MSH6 | c.*8A>G (n.*8A>G) n.4765A>G c.1546A>G (n.1546A>G) c.2864A>G (n.2864A>G) n.2686A>G n.2353A>G n.2755A>G n.1500A>G n.3385A>G n.3880T>C n.4142T>C c.169+1327T>C (n.169+1327T>C) c.*124+1126T>C (n.*124+1126T>C) c.*3438A>G (n.*3438A>G) n.3042T>C | ClinVar dbSNP gnomAD v4 |
2 | g.47806868A>T | CA2699121124 | FBXO11,MSH6 | c.*8A>T (n.*8A>T) n.4765A>T c.1546A>T (n.1546A>T) c.2864A>T (n.2864A>T) n.2686A>T n.2353A>T n.2755A>T n.1500A>T n.3385A>T n.3880T>A n.4142T>A c.169+1327T>A (n.169+1327T>A) c.*124+1126T>A (n.*124+1126T>A) c.*3438A>T (n.*3438A>T) n.3042T>A | dbSNP |