Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.47803431_47807699delCA1139656956FBXO11,MSH6c.2887_*839del
c.3184_*839del
c.169+498_169+4766del (n.169+498_169+4766del)
c.*124+297_*124+4565del (n.*124+297_*124+4565del)
 ClinVar
2g.47806758_47806811delCA2580611344FBXO11,MSH6c.3705-21_3737del
c.3618-21_3650del
n.4676-21_4708del
c.2436-21_2468del
c.4008-21_4040del
c.1457-21_1489del
c.2775-21_2807del
n.2959_3012del
n.2597-21_2629del
n.2264-21_2296del
n.2666-21_2698del
n.1411-21_1443del
n.3296-21_3328del
n.3938_3991del
n.4200_4253del
c.4002-21_4034del
c.3612-21_3644del
c.169+1385_169+1438del (n.169+1385_169+1438del)
c.*124+1184_*124+1237del (n.*124+1184_*124+1237del)
c.*3349-21_*3381del
n.3100_3153del
c.3096-21_3128del
c.903-21_935del
c.3819-21_3851del
c.4095-21_4127del
c.3912-21_3944del
c.3798-21_3830del
c.3189-21_3221del
 ClinVar
2g.47806772_47806806dupCA2580067583FBXO11,MSH6c.3705-7_3732dup
c.3618-7_3645dup
n.4676-7_4703dup
c.2436-7_2463dup
c.4008-7_4035dup
c.1457-7_1484dup
c.2775-7_2802dup
n.2973_3007dup
n.2597-7_2624dup
n.2264-7_2291dup
n.2666-7_2693dup
n.1411-7_1438dup
n.3296-7_3323dup
n.3943_3977dup
n.4205_4239dup
c.4002-7_4029dup
c.3612-7_3639dup
c.169+1390_169+1424dup (n.169+1390_169+1424dup)
c.*124+1189_*124+1223dup (n.*124+1189_*124+1223dup)
c.*3349-7_*3376dup
n.3105_3139dup
c.3096-7_3123dup
c.903-7_930dup
c.3819-7_3846dup
c.4095-7_4122dup
c.3912-7_3939dup
c.3798-7_3825dup
c.3189-7_3216dup
 ClinVar
2g.47806783_47806836dupCA2658970299FBXO11,MSH6c.3709_3762dup (p.Leu1254_Leu1255insValCysLeuAlaSerGluArgSerThrValAspAlaGluAlaValHisLysLeu)
c.3622_3675dup (p.Leu1225_Leu1226insValCysLeuAlaSerGluArgSerThrValAspAlaGluAlaValHisLysLeu)
n.4680_4733dup
c.2440_2493dup (p.Leu831_Leu832insValCysLeuAlaSerGluArgSerThrValAspAlaGluAlaValHisLysLeu)
c.4012_4065dup (p.Leu1355_Leu1356insValCysLeuAlaSerGluArgSerThrValAspAlaGluAlaValHisLysLeu)
c.1461_1514dup (n.1461_1514dup)
c.2779_2832dup (p.Leu944_Leu945insValCysLeuAlaSerGluArgSerThrValAspAlaGluAlaValHisLysLeu)
n.2984_3037dup
n.2601_2654dup
n.2268_2321dup
n.2670_2723dup
n.1415_1468dup
n.3300_3353dup
n.3912_3965dup
n.4174_4227dup
c.4006_4059dup (p.Leu1353_Leu1354insValCysLeuAlaSerGluArgSerThrValAspAlaGluAlaValHisLysLeu)
c.3616_3669dup (p.Leu1223_Leu1224insValCysLeuAlaSerGluArgSerThrValAspAlaGluAlaValHisLysLeu)
c.169+1359_169+1412dup (n.169+1359_169+1412dup)
c.*124+1158_*124+1211dup (n.*124+1158_*124+1211dup)
c.*3353_*3406dup (n.*3353_*3406dup)
n.3074_3127dup
c.3100_3153dup (p.Leu1051_Leu1052insValCysLeuAlaSerGluArgSerThrValAspAlaGluAlaValHisLysLeu)
c.907_960dup (p.Leu320_Leu321insValCysLeuAlaSerGluArgSerThrValAspAlaGluAlaValHisLysLeu)
c.3823_3876dup (p.Leu1292_Leu1293insValCysLeuAlaSerGluArgSerThrValAspAlaGluAlaValHisLysLeu)
c.4099_4152dup (p.Leu1384_Leu1385insValCysLeuAlaSerGluArgSerThrValAspAlaGluAlaValHisLysLeu)
c.3916_3969dup (p.Leu1323_Leu1324insValCysLeuAlaSerGluArgSerThrValAspAlaGluAlaValHisLysLeu)
c.3802_3855dup (p.Leu1285_Leu1286insValCysLeuAlaSerGluArgSerThrValAspAlaGluAlaValHisLysLeu)
c.3193_3246dup (p.Leu1082_Leu1083insValCysLeuAlaSerGluArgSerThrValAspAlaGluAlaValHisLysLeu)
 gnomAD v4
2g.47806788_47806807delinsCCTGGCTAGTGAAAGGTCAACA2496054538FBXO11,MSH6c.3714_3733delinsCCTGGCTAGTGAAAGGTCAA (p.Cys1238=)
c.3627_3646delinsCCTGGCTAGTGAAAGGTCAA (p.Cys1209=)
n.4685_4704delinsCCTGGCTAGTGAAAGGTCAA
c.2445_2464delinsCCTGGCTAGTGAAAGGTCAA (p.Cys815=)
c.4017_4036delinsCCTGGCTAGTGAAAGGTCAA (p.Cys1339=)
c.1466_1485delinsCCTGGCTAGTGAAAGGTCAA (n.1466_1485delinsCCTGGCTAGTGAAAGGTCAA)
c.2784_2803delinsCCTGGCTAGTGAAAGGTCAA (p.Cys928=)
n.2989_3008delinsCCTGGCTAGTGAAAGGTCAA
n.2606_2625delinsCCTGGCTAGTGAAAGGTCAA
n.2273_2292delinsCCTGGCTAGTGAAAGGTCAA
n.2675_2694delinsCCTGGCTAGTGAAAGGTCAA
n.1420_1439delinsCCTGGCTAGTGAAAGGTCAA
n.3305_3324delinsCCTGGCTAGTGAAAGGTCAA
n.3941_3960delinsTTGACCTTTCACTAGCCAGG
n.4203_4222delinsTTGACCTTTCACTAGCCAGG
c.4011_4030delinsCCTGGCTAGTGAAAGGTCAA (p.Cys1337=)
c.3621_3640delinsCCTGGCTAGTGAAAGGTCAA (p.Cys1207=)
c.169+1388_169+1407delinsTTGACCTTTCACTAGCCAGG (n.169+1388_169+1407delinsTTGACCTTTCACTAGCCAGG)
c.*124+1187_*124+1206delinsTTGACCTTTCACTAGCCAGG (n.*124+1187_*124+1206delinsTTGACCTTTCACTAGCCAGG)
c.*3358_*3377delinsCCTGGCTAGTGAAAGGTCAA (n.*3358_*3377delinsCCTGGCTAGTGAAAGGTCAA)
n.3103_3122delinsTTGACCTTTCACTAGCCAGG
c.3105_3124delinsCCTGGCTAGTGAAAGGTCAA (p.Cys1035=)
c.912_931delinsCCTGGCTAGTGAAAGGTCAA (p.Cys304=)
c.3828_3847delinsCCTGGCTAGTGAAAGGTCAA (p.Cys1276=)
c.4104_4123delinsCCTGGCTAGTGAAAGGTCAA (p.Cys1368=)
c.3921_3940delinsCCTGGCTAGTGAAAGGTCAA (p.Cys1307=)
c.3807_3826delinsCCTGGCTAGTGAAAGGTCAA (p.Cys1269=)
c.3198_3217delinsCCTGGCTAGTGAAAGGTCAA (p.Cys1066=)
2g.47806792_47806810delCA891843287FBXO11,MSH6c.3718_3736del (p.Ala1240Ter)
c.3631_3649del (p.Ala1211Ter)
n.4689_4707del
c.2449_2467del (p.Ala817Ter)
c.4021_4039del (p.Ala1341Ter)
c.1470_1488del (n.1470_1488del)
c.2788_2806del (p.Ala930Ter)
n.2993_3011del
n.2610_2628del
n.2277_2295del
n.2679_2697del
n.1424_1442del
n.3309_3327del
n.3941_3959del
n.4203_4221del
c.4015_4033del (p.Ala1339Ter)
c.3625_3643del (p.Ala1209Ter)
c.169+1388_169+1406del (n.169+1388_169+1406del)
c.*124+1187_*124+1205del (n.*124+1187_*124+1205del)
c.*3362_*3380del (n.*3362_*3380del)
n.3103_3121del
c.3109_3127del (p.Ala1037Ter)
c.916_934del (p.Ala306Ter)
c.3832_3850del (p.Ala1278Ter)
c.4108_4126del (p.Ala1370Ter)
c.3925_3943del (p.Ala1309Ter)
c.3811_3829del (p.Ala1271Ter)
c.3202_3220del (p.Ala1068Ter)
 ClinVar dbSNP
2g.47806792_47806807delinsGCTAGTGAAAGGTCAACA2496054545FBXO11,MSH6c.3718_3733delinsGCTAGTGAAAGGTCAA (p.Ala1240=)
c.3631_3646delinsGCTAGTGAAAGGTCAA (p.Ala1211=)
n.4689_4704delinsGCTAGTGAAAGGTCAA
c.2449_2464delinsGCTAGTGAAAGGTCAA (p.Ala817=)
c.4021_4036delinsGCTAGTGAAAGGTCAA (p.Ala1341=)
c.1470_1485delinsGCTAGTGAAAGGTCAA (n.1470_1485delinsGCTAGTGAAAGGTCAA)
c.2788_2803delinsGCTAGTGAAAGGTCAA (p.Ala930=)
n.2993_3008delinsGCTAGTGAAAGGTCAA
n.2610_2625delinsGCTAGTGAAAGGTCAA
n.2277_2292delinsGCTAGTGAAAGGTCAA
n.2679_2694delinsGCTAGTGAAAGGTCAA
n.1424_1439delinsGCTAGTGAAAGGTCAA
n.3309_3324delinsGCTAGTGAAAGGTCAA
n.3941_3956delinsTTGACCTTTCACTAGC
n.4203_4218delinsTTGACCTTTCACTAGC
c.4015_4030delinsGCTAGTGAAAGGTCAA (p.Ala1339=)
c.3625_3640delinsGCTAGTGAAAGGTCAA (p.Ala1209=)
c.169+1388_169+1403delinsTTGACCTTTCACTAGC (n.169+1388_169+1403delinsTTGACCTTTCACTAGC)
c.*124+1187_*124+1202delinsTTGACCTTTCACTAGC (n.*124+1187_*124+1202delinsTTGACCTTTCACTAGC)
c.*3362_*3377delinsGCTAGTGAAAGGTCAA (n.*3362_*3377delinsGCTAGTGAAAGGTCAA)
n.3103_3118delinsTTGACCTTTCACTAGC
c.3109_3124delinsGCTAGTGAAAGGTCAA (p.Ala1037=)
c.916_931delinsGCTAGTGAAAGGTCAA (p.Ala306=)
c.3832_3847delinsGCTAGTGAAAGGTCAA (p.Ala1278=)
c.4108_4123delinsGCTAGTGAAAGGTCAA (p.Ala1370=)
c.3925_3940delinsGCTAGTGAAAGGTCAA (p.Ala1309=)
c.3811_3826delinsGCTAGTGAAAGGTCAA (p.Ala1271=)
c.3202_3217delinsGCTAGTGAAAGGTCAA (p.Ala1068=)
2g.47806793_47806845dupCA1139656994FBXO11,MSH6c.3719_3771dup (p.Ile1258LeufsTer7)
c.3632_3684dup (p.Ile1229LeufsTer7)
n.4690_4742dup
c.2450_2502dup (p.Ile835LeufsTer7)
c.4022_4074dup (p.Ile1359LeufsTer7)
c.1471_1523dup (n.1471_1523dup)
c.2789_2841dup (p.Ile948LeufsTer7)
n.2994_3046dup
n.2611_2663dup
n.2278_2330dup
n.2680_2732dup
n.1425_1477dup
n.3310_3362dup
n.3904_3956dup
n.4166_4218dup
c.4016_4068dup (p.Ile1357LeufsTer7)
c.3626_3678dup (p.Ile1227LeufsTer7)
c.169+1351_169+1403dup (n.169+1351_169+1403dup)
c.*124+1150_*124+1202dup (n.*124+1150_*124+1202dup)
c.*3363_*3415dup (n.*3363_*3415dup)
n.3066_3118dup
c.3110_3162dup (p.Ile1055LeufsTer7)
c.917_969dup (p.Ile324LeufsTer7)
c.3833_3885dup (p.Ile1296LeufsTer7)
c.4109_4161dup (p.Ile1388LeufsTer7)
c.3926_3978dup (p.Ile1327LeufsTer7)
c.3812_3864dup (p.Ile1289LeufsTer7)
c.3203_3255dup (p.Ile1086LeufsTer7)
 ClinVar dbSNP gnomAD v4
2g.47806795_47806809delCA658795767FBXO11,MSH6c.3721_3735del (p.Ser1241_Thr1245del)
c.3634_3648del (p.Ser1212_Thr1216del)
n.4692_4706del
c.2452_2466del (p.Ser818_Thr822del)
c.4024_4038del (p.Ser1342_Thr1346del)
c.1473_1487del (n.1473_1487del)
c.2791_2805del (p.Ser931_Thr935del)
n.2996_3010del
n.2613_2627del
n.2280_2294del
n.2682_2696del
n.1427_1441del
n.3312_3326del
n.3941_3955del
n.4203_4217del
c.4018_4032del (p.Ser1340_Thr1344del)
c.3628_3642del (p.Ser1210_Thr1214del)
c.169+1388_169+1402del (n.169+1388_169+1402del)
c.*124+1187_*124+1201del (n.*124+1187_*124+1201del)
c.*3365_*3379del (n.*3365_*3379del)
n.3103_3117del
c.3112_3126del (p.Ser1038_Thr1042del)
c.919_933del (p.Ser307_Thr311del)
c.3835_3849del (p.Ser1279_Thr1283del)
c.4111_4125del (p.Ser1371_Thr1375del)
c.3928_3942del (p.Ser1310_Thr1314del)
c.3814_3828del (p.Ser1272_Thr1276del)
c.3205_3219del (p.Ser1069_Thr1073del)
 ClinVar dbSNP
2g.47806793_47806823dupCA2658970391FBXO11,MSH6c.3719_3749dup (p.Val1251Ter)
c.3632_3662dup (p.Val1222Ter)
n.4690_4720dup
c.2450_2480dup (p.Val828Ter)
c.4022_4052dup (p.Val1352Ter)
c.1471_1501dup (n.1471_1501dup)
c.2789_2819dup (p.Val941Ter)
n.2994_3024dup
n.2611_2641dup
n.2278_2308dup
n.2680_2710dup
n.1425_1455dup
n.3310_3340dup
n.3925_3955dup
n.4187_4217dup
c.4016_4046dup (p.Val1350Ter)
c.3626_3656dup (p.Val1220Ter)
c.169+1372_169+1402dup (n.169+1372_169+1402dup)
c.*124+1171_*124+1201dup (n.*124+1171_*124+1201dup)
c.*3363_*3393dup (n.*3363_*3393dup)
n.3087_3117dup
c.3110_3140dup (p.Val1048Ter)
c.917_947dup (p.Val317Ter)
c.3833_3863dup (p.Val1289Ter)
c.4109_4139dup (p.Val1381Ter)
c.3926_3956dup (p.Val1320Ter)
c.3812_3842dup (p.Val1282Ter)
c.3203_3233dup (p.Val1079Ter)
 gnomAD v4
2g.47806796_47806814delinsGTGAAAGGTCAACTGTAGACA2496054549FBXO11,MSH6c.3722_3740delinsGTGAAAGGTCAACTGTAGA (p.Ser1241=)
c.3635_3653delinsGTGAAAGGTCAACTGTAGA (p.Ser1212=)
n.4693_4711delinsGTGAAAGGTCAACTGTAGA
c.2453_2471delinsGTGAAAGGTCAACTGTAGA (p.Ser818=)
c.4025_4043delinsGTGAAAGGTCAACTGTAGA (p.Ser1342=)
c.1474_1492delinsGTGAAAGGTCAACTGTAGA (n.1474_1492delinsGTGAAAGGTCAACTGTAGA)
c.2792_2810delinsGTGAAAGGTCAACTGTAGA (p.Ser931=)
n.2997_3015delinsGTGAAAGGTCAACTGTAGA
n.2614_2632delinsGTGAAAGGTCAACTGTAGA
n.2281_2299delinsGTGAAAGGTCAACTGTAGA
n.2683_2701delinsGTGAAAGGTCAACTGTAGA
n.1428_1446delinsGTGAAAGGTCAACTGTAGA
n.3313_3331delinsGTGAAAGGTCAACTGTAGA
n.3934_3952delinsTCTACAGTTGACCTTTCAC
n.4196_4214delinsTCTACAGTTGACCTTTCAC
c.4019_4037delinsGTGAAAGGTCAACTGTAGA (p.Ser1340=)
c.3629_3647delinsGTGAAAGGTCAACTGTAGA (p.Ser1210=)
c.169+1381_169+1399delinsTCTACAGTTGACCTTTCAC (n.169+1381_169+1399delinsTCTACAGTTGACCTTTCAC)
c.*124+1180_*124+1198delinsTCTACAGTTGACCTTTCAC (n.*124+1180_*124+1198delinsTCTACAGTTGACCTTTCAC)
c.*3366_*3384delinsGTGAAAGGTCAACTGTAGA (n.*3366_*3384delinsGTGAAAGGTCAACTGTAGA)
n.3096_3114delinsTCTACAGTTGACCTTTCAC
c.3113_3131delinsGTGAAAGGTCAACTGTAGA (p.Ser1038=)
c.920_938delinsGTGAAAGGTCAACTGTAGA (p.Ser307=)
c.3836_3854delinsGTGAAAGGTCAACTGTAGA (p.Ser1279=)
c.4112_4130delinsGTGAAAGGTCAACTGTAGA (p.Ser1371=)
c.3929_3947delinsGTGAAAGGTCAACTGTAGA (p.Ser1310=)
c.3815_3833delinsGTGAAAGGTCAACTGTAGA (p.Ser1272=)
c.3206_3224delinsGTGAAAGGTCAACTGTAGA (p.Ser1069=)
2g.47806796_47806817delinsGTGAAAGGTCAACTGTAGATGCCA2496054548FBXO11,MSH6c.3722_3743delinsGTGAAAGGTCAACTGTAGATGC (p.Ser1241=)
c.3635_3656delinsGTGAAAGGTCAACTGTAGATGC (p.Ser1212=)
n.4693_4714delinsGTGAAAGGTCAACTGTAGATGC
c.2453_2474delinsGTGAAAGGTCAACTGTAGATGC (p.Ser818=)
c.4025_4046delinsGTGAAAGGTCAACTGTAGATGC (p.Ser1342=)
c.1474_1495delinsGTGAAAGGTCAACTGTAGATGC (n.1474_1495delinsGTGAAAGGTCAACTGTAGATGC)
c.2792_2813delinsGTGAAAGGTCAACTGTAGATGC (p.Ser931=)
n.2997_3018delinsGTGAAAGGTCAACTGTAGATGC
n.2614_2635delinsGTGAAAGGTCAACTGTAGATGC
n.2281_2302delinsGTGAAAGGTCAACTGTAGATGC
n.2683_2704delinsGTGAAAGGTCAACTGTAGATGC
n.1428_1449delinsGTGAAAGGTCAACTGTAGATGC
n.3313_3334delinsGTGAAAGGTCAACTGTAGATGC
n.3931_3952delinsGCATCTACAGTTGACCTTTCAC
n.4193_4214delinsGCATCTACAGTTGACCTTTCAC
c.4019_4040delinsGTGAAAGGTCAACTGTAGATGC (p.Ser1340=)
c.3629_3650delinsGTGAAAGGTCAACTGTAGATGC (p.Ser1210=)
c.169+1378_169+1399delinsGCATCTACAGTTGACCTTTCAC (n.169+1378_169+1399delinsGCATCTACAGTTGACCTTTCAC)
c.*124+1177_*124+1198delinsGCATCTACAGTTGACCTTTCAC (n.*124+1177_*124+1198delinsGCATCTACAGTTGACCTTTCAC)
c.*3366_*3387delinsGTGAAAGGTCAACTGTAGATGC (n.*3366_*3387delinsGTGAAAGGTCAACTGTAGATGC)
n.3093_3114delinsGCATCTACAGTTGACCTTTCAC
c.3113_3134delinsGTGAAAGGTCAACTGTAGATGC (p.Ser1038=)
c.920_941delinsGTGAAAGGTCAACTGTAGATGC (p.Ser307=)
c.3836_3857delinsGTGAAAGGTCAACTGTAGATGC (p.Ser1279=)
c.4112_4133delinsGTGAAAGGTCAACTGTAGATGC (p.Ser1371=)
c.3929_3950delinsGTGAAAGGTCAACTGTAGATGC (p.Ser1310=)
c.3815_3836delinsGTGAAAGGTCAACTGTAGATGC (p.Ser1272=)
c.3206_3227delinsGTGAAAGGTCAACTGTAGATGC (p.Ser1069=)
2g.47806798_47806826delCA2658970401FBXO11,MSH6c.3724_3752del (p.Glu1242ProfsTer2)
c.3637_3665del (p.Glu1213ProfsTer2)
n.4695_4723del
c.2455_2483del (p.Glu819ProfsTer2)
c.4027_4055del (p.Glu1343ProfsTer2)
c.1476_1504del (n.1476_1504del)
c.2794_2822del (p.Glu932ProfsTer2)
n.2999_3027del
n.2616_2644del
n.2283_2311del
n.2685_2713del
n.1430_1458del
n.3315_3343del
n.3924_3952del
n.4186_4214del
c.4021_4049del (p.Glu1341ProfsTer2)
c.3631_3659del (p.Glu1211ProfsTer2)
c.169+1371_169+1399del (n.169+1371_169+1399del)
c.*124+1170_*124+1198del (n.*124+1170_*124+1198del)
c.*3368_*3396del (n.*3368_*3396del)
n.3086_3114del
c.3115_3143del (p.Glu1039ProfsTer2)
c.922_950del (p.Glu308ProfsTer2)
c.3838_3866del (p.Glu1280ProfsTer2)
c.4114_4142del (p.Glu1372ProfsTer2)
c.3931_3959del (p.Glu1311ProfsTer2)
c.3817_3845del (p.Glu1273ProfsTer2)
c.3208_3236del (p.Glu1070ProfsTer2)
 gnomAD v4
2g.47806797_47806807dupCA2579753930FBXO11,MSH6c.3723_3733dup (p.Thr1245MetfsTer6)
c.3636_3646dup (p.Thr1216MetfsTer6)
n.4694_4704dup
c.2454_2464dup (p.Thr822MetfsTer6)
c.4026_4036dup (p.Thr1346MetfsTer6)
c.1475_1485dup (n.1475_1485dup)
c.2793_2803dup (p.Thr935MetfsTer6)
n.2998_3008dup
n.2615_2625dup
n.2282_2292dup
n.2684_2694dup
n.1429_1439dup
n.3314_3324dup
n.3941_3951dup
n.4203_4213dup
c.4020_4030dup (p.Thr1344MetfsTer6)
c.3630_3640dup (p.Thr1214MetfsTer6)
c.169+1388_169+1398dup (n.169+1388_169+1398dup)
c.*124+1187_*124+1197dup (n.*124+1187_*124+1197dup)
c.*3367_*3377dup (n.*3367_*3377dup)
n.3103_3113dup
c.3114_3124dup (p.Thr1042MetfsTer6)
c.921_931dup (p.Thr311MetfsTer6)
c.3837_3847dup (p.Thr1283MetfsTer6)
c.4113_4123dup (p.Thr1375MetfsTer6)
c.3930_3940dup (p.Thr1314MetfsTer6)
c.3816_3826dup (p.Thr1276MetfsTer6)
c.3207_3217dup (p.Thr1073MetfsTer6)
2g.47806799_47806816delCA913188078FBXO11,MSH6c.3725_3742del (p.Glu1242_Asp1247del)
c.3638_3655del (p.Glu1213_Asp1218del)
n.4696_4713del
c.2456_2473del (p.Glu819_Asp824del)
c.4028_4045del (p.Glu1343_Asp1348del)
c.1477_1494del (n.1477_1494del)
c.2795_2812del (p.Glu932_Asp937del)
n.3000_3017del
n.2617_2634del
n.2284_2301del
n.2686_2703del
n.1431_1448del
n.3316_3333del
n.3934_3951del
n.4196_4213del
c.4022_4039del (p.Glu1341_Asp1346del)
c.3632_3649del (p.Glu1211_Asp1216del)
c.169+1381_169+1398del (n.169+1381_169+1398del)
c.*124+1180_*124+1197del (n.*124+1180_*124+1197del)
c.*3369_*3386del (n.*3369_*3386del)
n.3096_3113del
c.3116_3133del (p.Glu1039_Asp1044del)
c.923_940del (p.Glu308_Asp313del)
c.3839_3856del (p.Glu1280_Asp1285del)
c.4115_4132del (p.Glu1372_Asp1377del)
c.3932_3949del (p.Glu1311_Asp1316del)
c.3818_3835del (p.Glu1273_Asp1278del)
c.3209_3226del (p.Glu1070_Asp1075del)
 ClinVar dbSNP
2g.47806801_47806821dupCA913188077FBXO11,MSH6c.3727_3747dup (p.Glu1249_Ala1250insArgSerThrValAspAlaGlu)
c.3640_3660dup (p.Glu1220_Ala1221insArgSerThrValAspAlaGlu)
n.4698_4718dup
c.2458_2478dup (p.Glu826_Ala827insArgSerThrValAspAlaGlu)
c.4030_4050dup (p.Glu1350_Ala1351insArgSerThrValAspAlaGlu)
c.1479_1499dup (n.1479_1499dup)
c.2797_2817dup (p.Glu939_Ala940insArgSerThrValAspAlaGlu)
n.3002_3022dup
n.2619_2639dup
n.2286_2306dup
n.2688_2708dup
n.1433_1453dup
n.3318_3338dup
n.3931_3951dup
n.4193_4213dup
c.4024_4044dup (p.Glu1348_Ala1349insArgSerThrValAspAlaGlu)
c.3634_3654dup (p.Glu1218_Ala1219insArgSerThrValAspAlaGlu)
c.169+1378_169+1398dup (n.169+1378_169+1398dup)
c.*124+1177_*124+1197dup (n.*124+1177_*124+1197dup)
c.*3371_*3391dup (n.*3371_*3391dup)
n.3093_3113dup
c.3118_3138dup (p.Glu1046_Ala1047insArgSerThrValAspAlaGlu)
c.925_945dup (p.Glu315_Ala316insArgSerThrValAspAlaGlu)
c.3841_3861dup (p.Glu1287_Ala1288insArgSerThrValAspAlaGlu)
c.4117_4137dup (p.Glu1379_Ala1380insArgSerThrValAspAlaGlu)
c.3934_3954dup (p.Glu1318_Ala1319insArgSerThrValAspAlaGlu)
c.3820_3840dup (p.Glu1280_Ala1281insArgSerThrValAspAlaGlu)
c.3211_3231dup (p.Glu1077_Ala1078insArgSerThrValAspAlaGlu)
 ClinVar dbSNP gnomAD v4
2g.47806801_47806821delCA16611190FBXO11,MSH6c.3727_3747del (p.Arg1243_Glu1249del)
c.3640_3660del (p.Arg1214_Glu1220del)
n.4698_4718del
c.2458_2478del (p.Arg820_Glu826del)
c.4030_4050del (p.Arg1344_Glu1350del)
c.1479_1499del (n.1479_1499del)
c.2797_2817del (p.Arg933_Glu939del)
n.3002_3022del
n.2619_2639del
n.2286_2306del
n.2688_2708del
n.1433_1453del
n.3318_3338del
n.3931_3951del
n.4193_4213del
c.4024_4044del (p.Arg1342_Glu1348del)
c.3634_3654del (p.Arg1212_Glu1218del)
c.169+1378_169+1398del (n.169+1378_169+1398del)
c.*124+1177_*124+1197del (n.*124+1177_*124+1197del)
c.*3371_*3391del (n.*3371_*3391del)
n.3093_3113del
c.3118_3138del (p.Arg1040_Glu1046del)
c.925_945del (p.Arg309_Glu315del)
c.3841_3861del (p.Arg1281_Glu1287del)
c.4117_4137del (p.Arg1373_Glu1379del)
c.3934_3954del (p.Arg1312_Glu1318del)
c.3820_3840del (p.Arg1274_Glu1280del)
c.3211_3231del (p.Arg1071_Glu1077del)
 ClinVar dbSNP
2g.47806801_47806807delCA2576961637FBXO11,MSH6c.3727_3733del (p.Arg1243LeufsTer2)
c.3640_3646del (p.Arg1214LeufsTer2)
n.4698_4704del
c.2458_2464del (p.Arg820LeufsTer2)
c.4030_4036del (p.Arg1344LeufsTer2)
c.1479_1485del (n.1479_1485del)
c.2797_2803del (p.Arg933LeufsTer2)
n.3002_3008del
n.2619_2625del
n.2286_2292del
n.2688_2694del
n.1433_1439del
n.3318_3324del
n.3943_3949del
n.4205_4211del
c.4024_4030del (p.Arg1342LeufsTer2)
c.3634_3640del (p.Arg1212LeufsTer2)
c.169+1390_169+1396del (n.169+1390_169+1396del)
c.*124+1189_*124+1195del (n.*124+1189_*124+1195del)
c.*3371_*3377del (n.*3371_*3377del)
n.3105_3111del
c.3118_3124del (p.Arg1040LeufsTer2)
c.925_931del (p.Arg309LeufsTer2)
c.3841_3847del (p.Arg1281LeufsTer2)
c.4117_4123del (p.Arg1373LeufsTer2)
c.3934_3940del (p.Arg1312LeufsTer2)
c.3820_3826del (p.Arg1274LeufsTer2)
c.3211_3217del (p.Arg1071LeufsTer2)
2g.47806799_47806854dupCA16617726FBXO11,MSH6c.3725_3780dup (p.Leu1261LysfsTer5)
c.3638_3693dup (p.Leu1232LysfsTer5)
n.4696_4751dup
c.2456_2511dup (p.Leu838LysfsTer5)
c.4028_4083dup (p.Leu1362LysfsTer5)
c.1477_1532dup (n.1477_1532dup)
c.2795_2850dup (p.Leu951LysfsTer5)
n.3000_3055dup
n.2617_2672dup
n.2284_2339dup
n.2686_2741dup
n.1431_1486dup
n.3316_3371dup
n.3894_3949dup
n.4156_4211dup
c.4022_4077dup (p.Leu1360LysfsTer5)
c.3632_3687dup (p.Leu1230LysfsTer5)
c.169+1341_169+1396dup (n.169+1341_169+1396dup)
c.*124+1140_*124+1195dup (n.*124+1140_*124+1195dup)
c.*3369_*3424dup (n.*3369_*3424dup)
n.3056_3111dup
c.3116_3171dup (p.Leu1058LysfsTer5)
c.923_978dup (p.Leu327LysfsTer5)
c.3839_3894dup (p.Leu1299LysfsTer5)
c.4115_4170dup (p.Leu1391LysfsTer5)
c.3932_3987dup (p.Leu1330LysfsTer5)
c.3818_3873dup (p.Leu1292LysfsTer5)
c.3209_3264dup (p.Leu1089LysfsTer5)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.47806802_47806846dupCA2496054554FBXO11,MSH6c.3728_3772dup (p.Leu1257_Ile1258insArgSerThrValAspAlaGluAlaValHisLysLeuLeuThrLeu)
c.3641_3685dup (p.Leu1228_Ile1229insArgSerThrValAspAlaGluAlaValHisLysLeuLeuThrLeu)
n.4699_4743dup
c.2459_2503dup (p.Leu834_Ile835insArgSerThrValAspAlaGluAlaValHisLysLeuLeuThrLeu)
c.4031_4075dup (p.Leu1358_Ile1359insArgSerThrValAspAlaGluAlaValHisLysLeuLeuThrLeu)
c.1480_1524dup (n.1480_1524dup)
c.2798_2842dup (p.Leu947_Ile948insArgSerThrValAspAlaGluAlaValHisLysLeuLeuThrLeu)
n.3003_3047dup
n.2620_2664dup
n.2287_2331dup
n.2689_2733dup
n.1434_1478dup
n.3319_3363dup
n.3903_3947dup
n.4165_4209dup
c.4025_4069dup (p.Leu1356_Ile1357insArgSerThrValAspAlaGluAlaValHisLysLeuLeuThrLeu)
c.3635_3679dup (p.Leu1226_Ile1227insArgSerThrValAspAlaGluAlaValHisLysLeuLeuThrLeu)
c.169+1350_169+1394dup (n.169+1350_169+1394dup)
c.*124+1149_*124+1193dup (n.*124+1149_*124+1193dup)
c.*3372_*3416dup (n.*3372_*3416dup)
n.3065_3109dup
c.3119_3163dup (p.Leu1054_Ile1055insArgSerThrValAspAlaGluAlaValHisLysLeuLeuThrLeu)
c.926_970dup (p.Leu323_Ile324insArgSerThrValAspAlaGluAlaValHisLysLeuLeuThrLeu)
c.3842_3886dup (p.Leu1295_Ile1296insArgSerThrValAspAlaGluAlaValHisLysLeuLeuThrLeu)
c.4118_4162dup (p.Leu1387_Ile1388insArgSerThrValAspAlaGluAlaValHisLysLeuLeuThrLeu)
c.3935_3979dup (p.Leu1326_Ile1327insArgSerThrValAspAlaGluAlaValHisLysLeuLeuThrLeu)
c.3821_3865dup (p.Leu1288_Ile1289insArgSerThrValAspAlaGluAlaValHisLysLeuLeuThrLeu)
c.3212_3256dup (p.Leu1085_Ile1086insArgSerThrValAspAlaGluAlaValHisLysLeuLeuThrLeu)
 ClinVar dbSNP
2g.47806803_47806805delinsGTCCA2496054557FBXO11,MSH6c.3729_3731delinsGTC (p.Arg1243=)
c.3642_3644delinsGTC (p.Arg1214=)
n.4700_4702delinsGTC
c.2460_2462delinsGTC (p.Arg820=)
c.4032_4034delinsGTC (p.Arg1344=)
c.1481_1483delinsGTC (n.1481_1483delinsGTC)
c.2799_2801delinsGTC (p.Arg933=)
n.3004_3006delinsGTC
n.2621_2623delinsGTC
n.2288_2290delinsGTC
n.2690_2692delinsGTC
n.1435_1437delinsGTC
n.3320_3322delinsGTC
n.3943_3945delinsGAC
n.4205_4207delinsGAC
c.4026_4028delinsGTC (p.Arg1342=)
c.3636_3638delinsGTC (p.Arg1212=)
c.169+1390_169+1392delinsGAC (n.169+1390_169+1392delinsGAC)
c.*124+1189_*124+1191delinsGAC (n.*124+1189_*124+1191delinsGAC)
c.*3373_*3375delinsGTC (n.*3373_*3375delinsGTC)
n.3105_3107delinsGAC
c.3120_3122delinsGTC (p.Arg1040=)
c.927_929delinsGTC (p.Arg309=)
c.3843_3845delinsGTC (p.Arg1281=)
c.4119_4121delinsGTC (p.Arg1373=)
c.3936_3938delinsGTC (p.Arg1312=)
c.3822_3824delinsGTC (p.Arg1274=)
c.3213_3215delinsGTC (p.Arg1071=)
2g.47806804_47806805delCA915943992FBXO11,MSH6c.3730_3731del (p.Ser1244AsnfsTer5)
c.3643_3644del (p.Ser1215AsnfsTer5)
n.4701_4702del
c.2461_2462del (p.Ser821AsnfsTer5)
c.4033_4034del (p.Ser1345AsnfsTer5)
c.1482_1483del (n.1482_1483del)
c.2800_2801del (p.Ser934AsnfsTer5)
n.3005_3006del
n.2622_2623del
n.2289_2290del
n.2691_2692del
n.1436_1437del
n.3321_3322del
n.3943_3944del
n.4205_4206del
c.4027_4028del (p.Ser1343AsnfsTer5)
c.3637_3638del (p.Ser1213AsnfsTer5)
c.169+1390_169+1391del (n.169+1390_169+1391del)
c.*124+1189_*124+1190del (n.*124+1189_*124+1190del)
c.*3374_*3375del (n.*3374_*3375del)
n.3105_3106del
c.3121_3122del (p.Ser1041AsnfsTer5)
c.928_929del (p.Ser310AsnfsTer5)
c.3844_3845del (p.Ser1282AsnfsTer5)
c.4120_4121del (p.Ser1374AsnfsTer5)
c.3937_3938del (p.Ser1313AsnfsTer5)
c.3823_3824del (p.Ser1275AsnfsTer5)
c.3214_3215del (p.Ser1072AsnfsTer5)
 ClinVar dbSNP
2g.47806805_47806818dupCA2573134810FBXO11,MSH6c.3731_3744dup (p.Glu1249GlnfsTer3)
c.3644_3657dup (p.Glu1220GlnfsTer3)
n.4702_4715dup
c.2462_2475dup (p.Glu826GlnfsTer3)
c.4034_4047dup (p.Glu1350GlnfsTer3)
c.1483_1496dup (n.1483_1496dup)
c.2801_2814dup (p.Glu939GlnfsTer3)
n.3006_3019dup
n.2623_2636dup
n.2290_2303dup
n.2692_2705dup
n.1437_1450dup
n.3322_3335dup
n.3931_3944dup
n.4193_4206dup
c.4028_4041dup (p.Glu1348GlnfsTer3)
c.3638_3651dup (p.Glu1218GlnfsTer3)
c.169+1378_169+1391dup (n.169+1378_169+1391dup)
c.*124+1177_*124+1190dup (n.*124+1177_*124+1190dup)
c.*3375_*3388dup (n.*3375_*3388dup)
n.3093_3106dup
c.3122_3135dup (p.Glu1046GlnfsTer3)
c.929_942dup (p.Glu315GlnfsTer3)
c.3845_3858dup (p.Glu1287GlnfsTer3)
c.4121_4134dup (p.Glu1379GlnfsTer3)
c.3938_3951dup (p.Glu1318GlnfsTer3)
c.3824_3837dup (p.Glu1280GlnfsTer3)
c.3215_3228dup (p.Glu1077GlnfsTer3)
 ClinVar dbSNP
2g.47806805C>ACA346761672FBXO11,MSH6c.3731C>A (p.Ser1244Ter)
c.3644C>A (p.Ser1215Ter)
n.4702C>A
c.2462C>A (p.Ser821Ter)
c.4034C>A (p.Ser1345Ter)
c.1483C>A (n.1483C>A)
c.2801C>A (p.Ser934Ter)
n.3006C>A
n.2623C>A
n.2290C>A
n.2692C>A
n.1437C>A
n.3322C>A
n.3943G>T
n.4205G>T
c.4028C>A (p.Ser1343Ter)
c.3638C>A (p.Ser1213Ter)
c.169+1390G>T (n.169+1390G>T)
c.*124+1189G>T (n.*124+1189G>T)
c.*3375C>A (n.*3375C>A)
n.3105G>T
c.3122C>A (p.Ser1041Ter)
c.929C>A (p.Ser310Ter)
c.3845C>A (p.Ser1282Ter)
c.4121C>A (p.Ser1374Ter)
c.3938C>A (p.Ser1313Ter)
c.3824C>A (p.Ser1275Ter)
c.3215C>A (p.Ser1072Ter)
 dbSNP gnomAD v3 gnomAD v4
2g.47806805C=CA2496054560FBXO11,MSH6c.3731C= (p.Ser1244=)
c.3644C= (p.Ser1215=)
n.4702C=
c.2462C= (p.Ser821=)
c.4034C= (p.Ser1345=)
c.1483C= (n.1483C=)
c.2801C= (p.Ser934=)
n.3006C=
n.2623C=
n.2290C=
n.2692C=
n.1437C=
n.3322C=
n.3943G=
n.4205G=
c.4028C= (p.Ser1343=)
c.3638C= (p.Ser1213=)
c.169+1390G= (n.169+1390G=)
c.*124+1189G= (n.*124+1189G=)
c.*3375C= (n.*3375C=)
n.3105G=
c.3122C= (p.Ser1041=)
c.929C= (p.Ser310=)
c.3845C= (p.Ser1282=)
c.4121C= (p.Ser1374=)
c.3938C= (p.Ser1313=)
c.3824C= (p.Ser1275=)
c.3215C= (p.Ser1072=)
2g.47806805C>GCA279821FBXO11,MSH6c.3731C>G (p.Ser1244Ter)
c.3644C>G (p.Ser1215Ter)
n.4702C>G
c.2462C>G (p.Ser821Ter)
c.4034C>G (p.Ser1345Ter)
c.1483C>G (n.1483C>G)
c.2801C>G (p.Ser934Ter)
n.3006C>G
n.2623C>G
n.2290C>G
n.2692C>G
n.1437C>G
n.3322C>G
n.3943G>C
n.4205G>C
c.4028C>G (p.Ser1343Ter)
c.3638C>G (p.Ser1213Ter)
c.169+1390G>C (n.169+1390G>C)
c.*124+1189G>C (n.*124+1189G>C)
c.*3375C>G (n.*3375C>G)
n.3105G>C
c.3122C>G (p.Ser1041Ter)
c.929C>G (p.Ser310Ter)
c.3845C>G (p.Ser1282Ter)
c.4121C>G (p.Ser1374Ter)
c.3938C>G (p.Ser1313Ter)
c.3824C>G (p.Ser1275Ter)
c.3215C>G (p.Ser1072Ter)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.47806805C>TCA346761673FBXO11,MSH6c.3731C>T (p.Ser1244Leu)
c.3644C>T (p.Ser1215Leu)
n.4702C>T
c.2462C>T (p.Ser821Leu)
c.4034C>T (p.Ser1345Leu)
c.1483C>T (n.1483C>T)
c.2801C>T (p.Ser934Leu)
n.3006C>T
n.2623C>T
n.2290C>T
n.2692C>T
n.1437C>T
n.3322C>T
n.3943G>A
n.4205G>A
c.4028C>T (p.Ser1343Leu)
c.3638C>T (p.Ser1213Leu)
c.169+1390G>A (n.169+1390G>A)
c.*124+1189G>A (n.*124+1189G>A)
c.*3375C>T (n.*3375C>T)
n.3105G>A
c.3122C>T (p.Ser1041Leu)
c.929C>T (p.Ser310Leu)
c.3845C>T (p.Ser1282Leu)
c.4121C>T (p.Ser1374Leu)
c.3938C>T (p.Ser1313Leu)
c.3824C>T (p.Ser1275Leu)
c.3215C>T (p.Ser1072Leu)
 dbSNP
2g.47806806_47806808dupCA072818FBXO11,MSH6c.3732_3734dup (p.Thr1245_Val1246insThr)
c.3645_3647dup (p.Thr1216_Val1217insThr)
n.4703_4705dup
c.2463_2465dup (p.Thr822_Val823insThr)
c.4035_4037dup (p.Thr1346_Val1347insThr)
c.1484_1486dup (n.1484_1486dup)
c.2802_2804dup (p.Thr935_Val936insThr)
n.3007_3009dup
n.2624_2626dup
n.2291_2293dup
n.2693_2695dup
n.1438_1440dup
n.3323_3325dup
n.3941_3943dup
n.4203_4205dup
c.4029_4031dup (p.Thr1344_Val1345insThr)
c.3639_3641dup (p.Thr1214_Val1215insThr)
c.169+1388_169+1390dup (n.169+1388_169+1390dup)
c.*124+1187_*124+1189dup (n.*124+1187_*124+1189dup)
c.*3376_*3378dup (n.*3376_*3378dup)
n.3103_3105dup
c.3123_3125dup (p.Thr1042_Val1043insThr)
c.930_932dup (p.Thr311_Val312insThr)
c.3846_3848dup (p.Thr1283_Val1284insThr)
c.4122_4124dup (p.Thr1375_Val1376insThr)
c.3939_3941dup (p.Thr1314_Val1315insThr)
c.3825_3827dup (p.Thr1276_Val1277insThr)
c.3216_3218dup (p.Thr1073_Val1074insThr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.47806806A>CCA426122265FBXO11,MSH6c.3732A>C (p.Ser1244=)
c.3645A>C (p.Ser1215=)
n.4703A>C
c.2463A>C (p.Ser821=)
c.4035A>C (p.Ser1345=)
c.1484A>C (n.1484A>C)
c.2802A>C (p.Ser934=)
n.3007A>C
n.2624A>C
n.2291A>C
n.2693A>C
n.1438A>C
n.3323A>C
n.3942T>G
n.4204T>G
c.4029A>C (p.Ser1343=)
c.3639A>C (p.Ser1213=)
c.169+1389T>G (n.169+1389T>G)
c.*124+1188T>G (n.*124+1188T>G)
c.*3376A>C (n.*3376A>C)
n.3104T>G
c.3123A>C (p.Ser1041=)
c.930A>C (p.Ser310=)
c.3846A>C (p.Ser1282=)
c.4122A>C (p.Ser1374=)
c.3939A>C (p.Ser1313=)
c.3825A>C (p.Ser1275=)
c.3216A>C (p.Ser1072=)
2g.47806806A>GCA426122266FBXO11,MSH6c.3732A>G (p.Ser1244=)
c.3645A>G (p.Ser1215=)
n.4703A>G
c.2463A>G (p.Ser821=)
c.4035A>G (p.Ser1345=)
c.1484A>G (n.1484A>G)
c.2802A>G (p.Ser934=)
n.3007A>G
n.2624A>G
n.2291A>G
n.2693A>G
n.1438A>G
n.3323A>G
n.3942T>C
n.4204T>C
c.4029A>G (p.Ser1343=)
c.3639A>G (p.Ser1213=)
c.169+1389T>C (n.169+1389T>C)
c.*124+1188T>C (n.*124+1188T>C)
c.*3376A>G (n.*3376A>G)
n.3104T>C
c.3123A>G (p.Ser1041=)
c.930A>G (p.Ser310=)
c.3846A>G (p.Ser1282=)
c.4122A>G (p.Ser1374=)
c.3939A>G (p.Ser1313=)
c.3825A>G (p.Ser1275=)
c.3216A>G (p.Ser1072=)
 dbSNP
2g.47806806A>TCA426122267FBXO11,MSH6c.3732A>T (p.Ser1244=)
c.3645A>T (p.Ser1215=)
n.4703A>T
c.2463A>T (p.Ser821=)
c.4035A>T (p.Ser1345=)
c.1484A>T (n.1484A>T)
c.2802A>T (p.Ser934=)
n.3007A>T
n.2624A>T
n.2291A>T
n.2693A>T
n.1438A>T
n.3323A>T
n.3942T>A
n.4204T>A
c.4029A>T (p.Ser1343=)
c.3639A>T (p.Ser1213=)
c.169+1389T>A (n.169+1389T>A)
c.*124+1188T>A (n.*124+1188T>A)
c.*3376A>T (n.*3376A>T)
n.3104T>A
c.3123A>T (p.Ser1041=)
c.930A>T (p.Ser310=)
c.3846A>T (p.Ser1282=)
c.4122A>T (p.Ser1374=)
c.3939A>T (p.Ser1313=)
c.3825A>T (p.Ser1275=)
c.3216A>T (p.Ser1072=)
 dbSNP
2g.47806806_47806809dupCA2739274452FBXO11,MSH6c.3732_3735dup (p.Val1246AsnfsTer5)
c.3645_3648dup (p.Val1217AsnfsTer5)
n.4703_4706dup
c.2463_2466dup (p.Val823AsnfsTer5)
c.4035_4038dup (p.Val1347AsnfsTer5)
c.1484_1487dup (n.1484_1487dup)
c.2802_2805dup (p.Val936AsnfsTer5)
n.3007_3010dup
n.2624_2627dup
n.2291_2294dup
n.2693_2696dup
n.1438_1441dup
n.3323_3326dup
n.3939_3942dup
n.4201_4204dup
c.4029_4032dup (p.Val1345AsnfsTer5)
c.3639_3642dup (p.Val1215AsnfsTer5)
c.169+1386_169+1389dup (n.169+1386_169+1389dup)
c.*124+1185_*124+1188dup (n.*124+1185_*124+1188dup)
c.*3376_*3379dup (n.*3376_*3379dup)
n.3101_3104dup
c.3123_3126dup (p.Val1043AsnfsTer5)
c.930_933dup (p.Val312AsnfsTer5)
c.3846_3849dup (p.Val1284AsnfsTer5)
c.4122_4125dup (p.Val1376AsnfsTer5)
c.3939_3942dup (p.Val1315AsnfsTer5)
c.3825_3828dup (p.Val1277AsnfsTer5)
c.3216_3219dup (p.Val1074AsnfsTer5)
 ClinVar
2g.47806808_47806832dupCA2555354714FBXO11,MSH6c.3734_3758dup (p.Lys1253AsnfsTer5)
c.3647_3671dup (p.Lys1224AsnfsTer5)
n.4705_4729dup
c.2465_2489dup (p.Lys830AsnfsTer5)
c.4037_4061dup (p.Lys1354AsnfsTer5)
c.1486_1510dup (n.1486_1510dup)
c.2804_2828dup (p.Lys943AsnfsTer5)
n.3009_3033dup
n.2626_2650dup
n.2293_2317dup
n.2695_2719dup
n.1440_1464dup
n.3325_3349dup
n.3918_3942dup
n.4180_4204dup
c.4031_4055dup (p.Lys1352AsnfsTer5)
c.3641_3665dup (p.Lys1222AsnfsTer5)
c.169+1365_169+1389dup (n.169+1365_169+1389dup)
c.*124+1164_*124+1188dup (n.*124+1164_*124+1188dup)
c.*3378_*3402dup (n.*3378_*3402dup)
n.3080_3104dup
c.3125_3149dup (p.Lys1050AsnfsTer5)
c.932_956dup (p.Lys319AsnfsTer5)
c.3848_3872dup (p.Lys1291AsnfsTer5)
c.4124_4148dup (p.Lys1383AsnfsTer5)
c.3941_3965dup (p.Lys1322AsnfsTer5)
c.3827_3851dup (p.Lys1284AsnfsTer5)
c.3218_3242dup (p.Lys1081AsnfsTer5)
2g.47806806_47806873dupCA2496054561FBXO11,MSH6c.3732_*13dup (n.3732_*13dup)
c.3645_*13dup (n.3645_*13dup)
n.4703_4770dup
c.2463_*13dup (n.2463_*13dup)
c.4035_*13dup (n.4035_*13dup)
c.1484_1551dup (n.1484_1551dup)
c.2802_2869dup (n.2802_2869dup)
n.2624_2691dup
n.2291_2358dup
n.2693_2760dup
n.1438_1505dup
n.3323_3390dup
n.3875_3942dup
n.4137_4204dup
c.4029_*13dup (n.4029_*13dup)
c.3639_*13dup (n.3639_*13dup)
c.169+1322_169+1389dup (n.169+1322_169+1389dup)
c.*124+1121_*124+1188dup (n.*124+1121_*124+1188dup)
c.*3376_*3443dup (n.*3376_*3443dup)
n.3037_3104dup
c.3123_*13dup (n.3123_*13dup)
c.930_*13dup (n.930_*13dup)
c.3846_*13dup (n.3846_*13dup)
c.4122_*13dup (n.4122_*13dup)
c.3939_*13dup (n.3939_*13dup)
c.3825_*13dup (n.3825_*13dup)
c.3216_*13dup (n.3216_*13dup)
 ClinVar dbSNP
2g.47806807A=CA2496054563FBXO11,MSH6c.3733A= (p.Thr1245=)
c.3646A= (p.Thr1216=)
n.4704A=
c.2464A= (p.Thr822=)
c.4036A= (p.Thr1346=)
c.1485A= (n.1485A=)
c.2803A= (p.Thr935=)
n.3008A=
n.2625A=
n.2292A=
n.2694A=
n.1439A=
n.3324A=
n.3941T=
n.4203T=
c.4030A= (p.Thr1344=)
c.3640A= (p.Thr1214=)
c.169+1388T= (n.169+1388T=)
c.*124+1187T= (n.*124+1187T=)
c.*3377A= (n.*3377A=)
n.3103T=
c.3124A= (p.Thr1042=)
c.931A= (p.Thr311=)
c.3847A= (p.Thr1283=)
c.4123A= (p.Thr1375=)
c.3940A= (p.Thr1314=)
c.3826A= (p.Thr1276=)
c.3217A= (p.Thr1073=)
2g.47806807A>CCA346761676FBXO11,MSH6c.3733A>C (p.Thr1245Pro)
c.3646A>C (p.Thr1216Pro)
n.4704A>C
c.2464A>C (p.Thr822Pro)
c.4036A>C (p.Thr1346Pro)
c.1485A>C (n.1485A>C)
c.2803A>C (p.Thr935Pro)
n.3008A>C
n.2625A>C
n.2292A>C
n.2694A>C
n.1439A>C
n.3324A>C
n.3941T>G
n.4203T>G
c.4030A>C (p.Thr1344Pro)
c.3640A>C (p.Thr1214Pro)
c.169+1388T>G (n.169+1388T>G)
c.*124+1187T>G (n.*124+1187T>G)
c.*3377A>C (n.*3377A>C)
n.3103T>G
c.3124A>C (p.Thr1042Pro)
c.931A>C (p.Thr311Pro)
c.3847A>C (p.Thr1283Pro)
c.4123A>C (p.Thr1375Pro)
c.3940A>C (p.Thr1314Pro)
c.3826A>C (p.Thr1276Pro)
c.3217A>C (p.Thr1073Pro)
2g.47806807A>GCA346761674FBXO11,MSH6c.3733A>G (p.Thr1245Ala)
c.3646A>G (p.Thr1216Ala)
n.4704A>G
c.2464A>G (p.Thr822Ala)
c.4036A>G (p.Thr1346Ala)
c.1485A>G (n.1485A>G)
c.2803A>G (p.Thr935Ala)
n.3008A>G
n.2625A>G
n.2292A>G
n.2694A>G
n.1439A>G
n.3324A>G
n.3941T>C
n.4203T>C
c.4030A>G (p.Thr1344Ala)
c.3640A>G (p.Thr1214Ala)
c.169+1388T>C (n.169+1388T>C)
c.*124+1187T>C (n.*124+1187T>C)
c.*3377A>G (n.*3377A>G)
n.3103T>C
c.3124A>G (p.Thr1042Ala)
c.931A>G (p.Thr311Ala)
c.3847A>G (p.Thr1283Ala)
c.4123A>G (p.Thr1375Ala)
c.3940A>G (p.Thr1314Ala)
c.3826A>G (p.Thr1276Ala)
c.3217A>G (p.Thr1073Ala)
 ClinVar dbSNP gnomAD v4
2g.47806807A>TCA346761675FBXO11,MSH6c.3733A>T (p.Thr1245Ser)
c.3646A>T (p.Thr1216Ser)
n.4704A>T
c.2464A>T (p.Thr822Ser)
c.4036A>T (p.Thr1346Ser)
c.1485A>T (n.1485A>T)
c.2803A>T (p.Thr935Ser)
n.3008A>T
n.2625A>T
n.2292A>T
n.2694A>T
n.1439A>T
n.3324A>T
n.3941T>A
n.4203T>A
c.4030A>T (p.Thr1344Ser)
c.3640A>T (p.Thr1214Ser)
c.169+1388T>A (n.169+1388T>A)
c.*124+1187T>A (n.*124+1187T>A)
c.*3377A>T (n.*3377A>T)
n.3103T>A
c.3124A>T (p.Thr1042Ser)
c.931A>T (p.Thr311Ser)
c.3847A>T (p.Thr1283Ser)
c.4123A>T (p.Thr1375Ser)
c.3940A>T (p.Thr1314Ser)
c.3826A>T (p.Thr1276Ser)
c.3217A>T (p.Thr1073Ser)
2g.47806807_47806816delinsACTGTAGATGCA2496054562FBXO11,MSH6c.3733_3742delinsACTGTAGATG (p.Thr1245=)
c.3646_3655delinsACTGTAGATG (p.Thr1216=)
n.4704_4713delinsACTGTAGATG
c.2464_2473delinsACTGTAGATG (p.Thr822=)
c.4036_4045delinsACTGTAGATG (p.Thr1346=)
c.1485_1494delinsACTGTAGATG (n.1485_1494delinsACTGTAGATG)
c.2803_2812delinsACTGTAGATG (p.Thr935=)
n.3008_3017delinsACTGTAGATG
n.2625_2634delinsACTGTAGATG
n.2292_2301delinsACTGTAGATG
n.2694_2703delinsACTGTAGATG
n.1439_1448delinsACTGTAGATG
n.3324_3333delinsACTGTAGATG
n.3932_3941delinsCATCTACAGT
n.4194_4203delinsCATCTACAGT
c.4030_4039delinsACTGTAGATG (p.Thr1344=)
c.3640_3649delinsACTGTAGATG (p.Thr1214=)
c.169+1379_169+1388delinsCATCTACAGT (n.169+1379_169+1388delinsCATCTACAGT)
c.*124+1178_*124+1187delinsCATCTACAGT (n.*124+1178_*124+1187delinsCATCTACAGT)
c.*3377_*3386delinsACTGTAGATG (n.*3377_*3386delinsACTGTAGATG)
n.3094_3103delinsCATCTACAGT
c.3124_3133delinsACTGTAGATG (p.Thr1042=)
c.931_940delinsACTGTAGATG (p.Thr311=)
c.3847_3856delinsACTGTAGATG (p.Thr1283=)
c.4123_4132delinsACTGTAGATG (p.Thr1375=)
c.3940_3949delinsACTGTAGATG (p.Thr1314=)
c.3826_3835delinsACTGTAGATG (p.Thr1276=)
c.3217_3226delinsACTGTAGATG (p.Thr1073=)
2g.47806808C>ACA346761677FBXO11,MSH6c.3734C>A (p.Thr1245Asn)
c.3647C>A (p.Thr1216Asn)
n.4705C>A
c.2465C>A (p.Thr822Asn)
c.4037C>A (p.Thr1346Asn)
c.1486C>A (n.1486C>A)
c.2804C>A (p.Thr935Asn)
n.3009C>A
n.2626C>A
n.2293C>A
n.2695C>A
n.1440C>A
n.3325C>A
n.3940G>T
n.4202G>T
c.4031C>A (p.Thr1344Asn)
c.3641C>A (p.Thr1214Asn)
c.169+1387G>T (n.169+1387G>T)
c.*124+1186G>T (n.*124+1186G>T)
c.*3378C>A (n.*3378C>A)
n.3102G>T
c.3125C>A (p.Thr1042Asn)
c.932C>A (p.Thr311Asn)
c.3848C>A (p.Thr1283Asn)
c.4124C>A (p.Thr1375Asn)
c.3941C>A (p.Thr1314Asn)
c.3827C>A (p.Thr1276Asn)
c.3218C>A (p.Thr1073Asn)
 ClinVar dbSNP gnomAD v4
2g.47806808C=CA2496054564FBXO11,MSH6c.3734C= (p.Thr1245=)
c.3647C= (p.Thr1216=)
n.4705C=
c.2465C= (p.Thr822=)
c.4037C= (p.Thr1346=)
c.1486C= (n.1486C=)
c.2804C= (p.Thr935=)
n.3009C=
n.2626C=
n.2293C=
n.2695C=
n.1440C=
n.3325C=
n.3940G=
n.4202G=
c.4031C= (p.Thr1344=)
c.3641C= (p.Thr1214=)
c.169+1387G= (n.169+1387G=)
c.*124+1186G= (n.*124+1186G=)
c.*3378C= (n.*3378C=)
n.3102G=
c.3125C= (p.Thr1042=)
c.932C= (p.Thr311=)
c.3848C= (p.Thr1283=)
c.4124C= (p.Thr1375=)
c.3941C= (p.Thr1314=)
c.3827C= (p.Thr1276=)
c.3218C= (p.Thr1073=)
2g.47806808C>GCA346761678FBXO11,MSH6c.3734C>G (p.Thr1245Ser)
c.3647C>G (p.Thr1216Ser)
n.4705C>G
c.2465C>G (p.Thr822Ser)
c.4037C>G (p.Thr1346Ser)
c.1486C>G (n.1486C>G)
c.2804C>G (p.Thr935Ser)
n.3009C>G
n.2626C>G
n.2293C>G
n.2695C>G
n.1440C>G
n.3325C>G
n.3940G>C
n.4202G>C
c.4031C>G (p.Thr1344Ser)
c.3641C>G (p.Thr1214Ser)
c.169+1387G>C (n.169+1387G>C)
c.*124+1186G>C (n.*124+1186G>C)
c.*3378C>G (n.*3378C>G)
n.3102G>C
c.3125C>G (p.Thr1042Ser)
c.932C>G (p.Thr311Ser)
c.3848C>G (p.Thr1283Ser)
c.4124C>G (p.Thr1375Ser)
c.3941C>G (p.Thr1314Ser)
c.3827C>G (p.Thr1276Ser)
c.3218C>G (p.Thr1073Ser)
 dbSNP
2g.47806808C>TCA346761679FBXO11,MSH6c.3734C>T (p.Thr1245Ile)
c.3647C>T (p.Thr1216Ile)
n.4705C>T
c.2465C>T (p.Thr822Ile)
c.4037C>T (p.Thr1346Ile)
c.1486C>T (n.1486C>T)
c.2804C>T (p.Thr935Ile)
n.3009C>T
n.2626C>T
n.2293C>T
n.2695C>T
n.1440C>T
n.3325C>T
n.3940G>A
n.4202G>A
c.4031C>T (p.Thr1344Ile)
c.3641C>T (p.Thr1214Ile)
c.169+1387G>A (n.169+1387G>A)
c.*124+1186G>A (n.*124+1186G>A)
c.*3378C>T (n.*3378C>T)
n.3102G>A
c.3125C>T (p.Thr1042Ile)
c.932C>T (p.Thr311Ile)
c.3848C>T (p.Thr1283Ile)
c.4124C>T (p.Thr1375Ile)
c.3941C>T (p.Thr1314Ile)
c.3827C>T (p.Thr1276Ile)
c.3218C>T (p.Thr1073Ile)
 ClinVar dbSNP
2g.47806811_47806819delCA348238FBXO11,MSH6c.3737_3745del (p.Val1246_Ala1248del)
c.3650_3658del (p.Val1217_Ala1219del)
n.4708_4716del
c.2468_2476del (p.Val823_Ala825del)
c.4040_4048del (p.Val1347_Ala1349del)
c.1489_1497del (n.1489_1497del)
c.2807_2815del (p.Val936_Ala938del)
n.3012_3020del
n.2629_2637del
n.2296_2304del
n.2698_2706del
n.1443_1451del
n.3328_3336del
n.3932_3940del
n.4194_4202del
c.4034_4042del (p.Val1345_Ala1347del)
c.3644_3652del (p.Val1215_Ala1217del)
c.169+1379_169+1387del (n.169+1379_169+1387del)
c.*124+1178_*124+1186del (n.*124+1178_*124+1186del)
c.*3381_*3389del (n.*3381_*3389del)
n.3094_3102del
c.3128_3136del (p.Val1043_Ala1045del)
c.935_943del (p.Val312_Ala314del)
c.3851_3859del (p.Val1284_Ala1286del)
c.4127_4135del (p.Val1376_Ala1378del)
c.3944_3952del (p.Val1315_Ala1317del)
c.3830_3838del (p.Val1277_Ala1279del)
c.3221_3229del (p.Val1074_Ala1076del)
 ClinVar dbSNP gnomAD v4
2g.47806809T>ACA426122268FBXO11,MSH6c.3735T>A (p.Thr1245=)
c.3648T>A (p.Thr1216=)
n.4706T>A
c.2466T>A (p.Thr822=)
c.4038T>A (p.Thr1346=)
c.1487T>A (n.1487T>A)
c.2805T>A (p.Thr935=)
n.3010T>A
n.2627T>A
n.2294T>A
n.2696T>A
n.1441T>A
n.3326T>A
n.3939A>T
n.4201A>T
c.4032T>A (p.Thr1344=)
c.3642T>A (p.Thr1214=)
c.169+1386A>T (n.169+1386A>T)
c.*124+1185A>T (n.*124+1185A>T)
c.*3379T>A (n.*3379T>A)
n.3101A>T
c.3126T>A (p.Thr1042=)
c.933T>A (p.Thr311=)
c.3849T>A (p.Thr1283=)
c.4125T>A (p.Thr1375=)
c.3942T>A (p.Thr1314=)
c.3828T>A (p.Thr1276=)
c.3219T>A (p.Thr1073=)
 dbSNP
2g.47806809T>CCA426122270FBXO11,MSH6c.3735T>C (p.Thr1245=)
c.3648T>C (p.Thr1216=)
n.4706T>C
c.2466T>C (p.Thr822=)
c.4038T>C (p.Thr1346=)
c.1487T>C (n.1487T>C)
c.2805T>C (p.Thr935=)
n.3010T>C
n.2627T>C
n.2294T>C
n.2696T>C
n.1441T>C
n.3326T>C
n.3939A>G
n.4201A>G
c.4032T>C (p.Thr1344=)
c.3642T>C (p.Thr1214=)
c.169+1386A>G (n.169+1386A>G)
c.*124+1185A>G (n.*124+1185A>G)
c.*3379T>C (n.*3379T>C)
n.3101A>G
c.3126T>C (p.Thr1042=)
c.933T>C (p.Thr311=)
c.3849T>C (p.Thr1283=)
c.4125T>C (p.Thr1375=)
c.3942T>C (p.Thr1314=)
c.3828T>C (p.Thr1276=)
c.3219T>C (p.Thr1073=)
2g.47806809T>GCA426122269FBXO11,MSH6c.3735T>G (p.Thr1245=)
c.3648T>G (p.Thr1216=)
n.4706T>G
c.2466T>G (p.Thr822=)
c.4038T>G (p.Thr1346=)
c.1487T>G (n.1487T>G)
c.2805T>G (p.Thr935=)
n.3010T>G
n.2627T>G
n.2294T>G
n.2696T>G
n.1441T>G
n.3326T>G
n.3939A>C
n.4201A>C
c.4032T>G (p.Thr1344=)
c.3642T>G (p.Thr1214=)
c.169+1386A>C (n.169+1386A>C)
c.*124+1185A>C (n.*124+1185A>C)
c.*3379T>G (n.*3379T>G)
n.3101A>C
c.3126T>G (p.Thr1042=)
c.933T>G (p.Thr311=)
c.3849T>G (p.Thr1283=)
c.4125T>G (p.Thr1375=)
c.3942T>G (p.Thr1314=)
c.3828T>G (p.Thr1276=)
c.3219T>G (p.Thr1073=)
2g.47806810_47806811delCA2580067593FBXO11,MSH6c.3736_3737del (p.Val1246ArgfsTer3)
c.3649_3650del (p.Val1217ArgfsTer3)
n.4707_4708del
c.2467_2468del (p.Val823ArgfsTer3)
c.4039_4040del (p.Val1347ArgfsTer3)
c.1488_1489del (n.1488_1489del)
c.2806_2807del (p.Val936ArgfsTer3)
n.3011_3012del
n.2628_2629del
n.2295_2296del
n.2697_2698del
n.1442_1443del
n.3327_3328del
n.3938_3939del
n.4200_4201del
c.4033_4034del (p.Val1345ArgfsTer3)
c.3643_3644del (p.Val1215ArgfsTer3)
c.169+1385_169+1386del (n.169+1385_169+1386del)
c.*124+1184_*124+1185del (n.*124+1184_*124+1185del)
c.*3380_*3381del (n.*3380_*3381del)
n.3100_3101del
c.3127_3128del (p.Val1043ArgfsTer3)
c.934_935del (p.Val312ArgfsTer3)
c.3850_3851del (p.Val1284ArgfsTer3)
c.4126_4127del (p.Val1376ArgfsTer3)
c.3943_3944del (p.Val1315ArgfsTer3)
c.3829_3830del (p.Val1277ArgfsTer3)
c.3220_3221del (p.Val1074ArgfsTer3)
 ClinVar
2g.47806810G>ACA072821FBXO11,MSH6c.3736G>A (p.Val1246Ile)
c.3649G>A (p.Val1217Ile)
n.4707G>A
c.2467G>A (p.Val823Ile)
c.4039G>A (p.Val1347Ile)
c.1488G>A (n.1488G>A)
c.2806G>A (p.Val936Ile)
n.3011G>A
n.2628G>A
n.2295G>A
n.2697G>A
n.1442G>A
n.3327G>A
n.3938C>T
n.4200C>T
c.4033G>A (p.Val1345Ile)
c.3643G>A (p.Val1215Ile)
c.169+1385C>T (n.169+1385C>T)
c.*124+1184C>T (n.*124+1184C>T)
c.*3380G>A (n.*3380G>A)
n.3100C>T
c.3127G>A (p.Val1043Ile)
c.934G>A (p.Val312Ile)
c.3850G>A (p.Val1284Ile)
c.4126G>A (p.Val1376Ile)
c.3943G>A (p.Val1315Ile)
c.3829G>A (p.Val1277Ile)
c.3220G>A (p.Val1074Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.47806810G>CCA346761680FBXO11,MSH6c.3736G>C (p.Val1246Leu)
c.3649G>C (p.Val1217Leu)
n.4707G>C
c.2467G>C (p.Val823Leu)
c.4039G>C (p.Val1347Leu)
c.1488G>C (n.1488G>C)
c.2806G>C (p.Val936Leu)
n.3011G>C
n.2628G>C
n.2295G>C
n.2697G>C
n.1442G>C
n.3327G>C
n.3938C>G
n.4200C>G
c.4033G>C (p.Val1345Leu)
c.3643G>C (p.Val1215Leu)
c.169+1385C>G (n.169+1385C>G)
c.*124+1184C>G (n.*124+1184C>G)
c.*3380G>C (n.*3380G>C)
n.3100C>G
c.3127G>C (p.Val1043Leu)
c.934G>C (p.Val312Leu)
c.3850G>C (p.Val1284Leu)
c.4126G>C (p.Val1376Leu)
c.3943G>C (p.Val1315Leu)
c.3829G>C (p.Val1277Leu)
c.3220G>C (p.Val1074Leu)

Number of alleles fetched