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.47806202_47806641delCA2499216121FBXO11,MSH6c.3350-2_3694del
c.3263-2_3607del
n.4321-2_4665del
c.2081-2_2425del
c.3653-2_3997del
c.1102-2_1446del
c.2420-2_2764del
n.2498-2_2842del
n.4803_5149del
n.2242-2_2586del
n.1816-2_2253del
n.2309_2655del
n.1056-2_1400del
n.2941-2_3285del
n.4109_4548del
n.4371_4810del
c.3647-2_3991del
c.3257-2_3601del
c.169+1556_169+1995del (n.169+1556_169+1995del)
c.*124+1355_*124+1794del (n.*124+1355_*124+1794del)
c.*2994-2_*3338del
c.2741-2_3085del
c.551-2_892del
c.3464-2_3808del
c.3647-2_4084del
c.3464-2_3901del
c.3350-2_3787del
c.2741-2_3178del
 ClinVar dbSNP
2g.47806586_47806659dupCA913188048FBXO11,MSH6c.3639_3704+8dup
c.3552_3617+8dup
n.4610_4675+8dup
c.2370_2435+8dup
c.3942_4007+8dup
c.1391_1456+8dup
c.2709_2774+8dup
n.2787_2860dup
n.5094_5167dup
n.2531_2596+8dup
n.2198_2263+8dup
n.2600_2665+8dup
n.1345_1410+8dup
n.3230_3295+8dup
n.4089_4162dup
n.4351_4424dup
c.3936_4001+8dup
c.3546_3611+8dup
c.169+1536_169+1609dup (n.169+1536_169+1609dup)
c.*124+1335_*124+1408dup (n.*124+1335_*124+1408dup)
c.*3283_*3348+8dup
c.3030_3095+8dup
c.837_902+8dup
c.3753_3818+8dup
c.4029_4094+8dup
c.3846_3911+8dup
c.3732_3797+8dup
c.3123_3188+8dup
 ClinVar dbSNP gnomAD v4
2g.47806589_47806650dupCA2658968498FBXO11,MSH6c.3642_3703dup (p.Arg1235LeufsTer14)
c.3555_3616dup (p.Arg1206LeufsTer14)
n.4613_4674dup
c.2373_2434dup (p.Arg812LeufsTer14)
c.3945_4006dup (p.Arg1336LeufsTer14)
c.1394_1455dup (n.1394_1455dup)
c.2712_2773dup (p.Arg925LeufsTer14)
n.2790_2851dup
n.5097_5158dup
n.2534_2595dup
n.2201_2262dup
n.2603_2664dup
n.1348_1409dup
n.3233_3294dup
n.4098_4159dup
n.4360_4421dup
c.3939_4000dup (p.Arg1334LeufsTer14)
c.3549_3610dup (p.Arg1204LeufsTer14)
c.169+1545_169+1606dup (n.169+1545_169+1606dup)
c.*124+1344_*124+1405dup (n.*124+1344_*124+1405dup)
c.*3286_*3347dup (n.*3286_*3347dup)
c.3033_3094dup (p.Arg1032LeufsTer14)
c.840_901dup (p.Arg301LeufsTer14)
c.3756_3817dup (p.Arg1273LeufsTer14)
c.4032_4093dup (p.Arg1365LeufsTer14)
c.3849_3910dup (p.Arg1304LeufsTer14)
c.3735_3796dup (p.Arg1266LeufsTer14)
c.3126_3187dup (p.Arg1063LeufsTer14)
 gnomAD v4
2g.47806608_47806636dupCA2695200528FBXO11,MSH6c.3661_3689dup (p.Leu1231GlnfsTer7)
c.3574_3602dup (p.Leu1202GlnfsTer7)
n.4632_4660dup
c.2392_2420dup (p.Leu808GlnfsTer7)
c.3964_3992dup (p.Leu1332GlnfsTer7)
c.1413_1441dup (n.1413_1441dup)
c.2731_2759dup (p.Leu921GlnfsTer7)
n.2809_2837dup
n.5116_5144dup
n.2553_2581dup
n.2220_2248dup
n.2622_2650dup
n.1367_1395dup
n.3252_3280dup
n.4112_4140dup
n.4374_4402dup
c.3958_3986dup (p.Leu1330GlnfsTer7)
c.3568_3596dup (p.Leu1200GlnfsTer7)
c.169+1559_169+1587dup (n.169+1559_169+1587dup)
c.*124+1358_*124+1386dup (n.*124+1358_*124+1386dup)
c.*3305_*3333dup (n.*3305_*3333dup)
c.3052_3080dup (p.Leu1028GlnfsTer7)
c.859_887dup (p.Leu297GlnfsTer7)
c.3775_3803dup (p.Leu1269GlnfsTer7)
c.4051_4079dup (p.Leu1361GlnfsTer7)
c.3868_3896dup (p.Leu1300GlnfsTer7)
c.3754_3782dup (p.Leu1262GlnfsTer7)
c.3145_3173dup (p.Leu1059GlnfsTer7)
 ClinVar
2g.47806616_47806637dupCA2580067518FBXO11,MSH6c.3669_3690dup (p.Leu1231IlefsTer2)
c.3582_3603dup (p.Leu1202IlefsTer2)
n.4640_4661dup
c.2400_2421dup (p.Leu808IlefsTer2)
c.3972_3993dup (p.Leu1332IlefsTer2)
c.1421_1442dup (n.1421_1442dup)
c.2739_2760dup (p.Leu921IlefsTer2)
n.2817_2838dup
n.5124_5145dup
n.2561_2582dup
n.2228_2249dup
n.2630_2651dup
n.1375_1396dup
n.3260_3281dup
n.4112_4133dup
n.4374_4395dup
c.3966_3987dup (p.Leu1330IlefsTer2)
c.3576_3597dup (p.Leu1200IlefsTer2)
c.169+1559_169+1580dup (n.169+1559_169+1580dup)
c.*124+1358_*124+1379dup (n.*124+1358_*124+1379dup)
c.*3313_*3334dup (n.*3313_*3334dup)
c.3060_3081dup (p.Leu1028IlefsTer2)
c.867_888dup (p.Leu297IlefsTer2)
c.3783_3804dup (p.Leu1269IlefsTer2)
c.4059_4080dup (p.Leu1361IlefsTer2)
c.3876_3897dup (p.Leu1300IlefsTer2)
c.3762_3783dup (p.Leu1262IlefsTer2)
c.3153_3174dup (p.Leu1059IlefsTer2)
 ClinVar
2g.47806616_47806647delCA2499216147FBXO11,MSH6c.3669_3700del (p.Glu1223AspfsTer8)
c.3582_3613del (p.Glu1194AspfsTer8)
n.4640_4671del
c.2400_2431del (p.Glu800AspfsTer8)
c.3972_4003del (p.Glu1324AspfsTer8)
c.1421_1452del (n.1421_1452del)
c.2739_2770del (p.Glu913AspfsTer8)
n.2817_2848del
n.5124_5155del
n.2561_2592del
n.2228_2259del
n.2630_2661del
n.1375_1406del
n.3260_3291del
n.4101_4132del
n.4363_4394del
c.3966_3997del (p.Glu1322AspfsTer8)
c.3576_3607del (p.Glu1192AspfsTer8)
c.169+1548_169+1579del (n.169+1548_169+1579del)
c.*124+1347_*124+1378del (n.*124+1347_*124+1378del)
c.*3313_*3344del (n.*3313_*3344del)
c.3060_3091del (p.Glu1020AspfsTer8)
c.867_898del (p.Glu289AspfsTer8)
c.3783_3814del (p.Glu1261AspfsTer8)
c.4059_4090del (p.Glu1353AspfsTer8)
c.3876_3907del (p.Glu1292AspfsTer8)
c.3762_3793del (p.Glu1254AspfsTer8)
c.3153_3184del (p.Glu1051AspfsTer8)
 ClinVar dbSNP
2g.47806650_47806651insTGTAACTAACTAACTATAATGGAATTATAACTAACTGACCTTAAGTTTCAAAGTGAGAAGATGAATCAGTCACTACGATTATTTCCA2573134797FBXO11,MSH6c.3703_3704insTGTAACTAACTAACTATAATGGAATTATAACTAACTGACCTTAAGTTTCAAAGTGAGAAGATGAATCAGTCACTACGATTATTTC (p.Arg1235LeufsTer2)
c.3616_3617insTGTAACTAACTAACTATAATGGAATTATAACTAACTGACCTTAAGTTTCAAAGTGAGAAGATGAATCAGTCACTACGATTATTTC (p.Arg1206LeufsTer2)
n.4674_4675insTGTAACTAACTAACTATAATGGAATTATAACTAACTGACCTTAAGTTTCAAAGTGAGAAGATGAATCAGTCACTACGATTATTTC
c.2434_2435insTGTAACTAACTAACTATAATGGAATTATAACTAACTGACCTTAAGTTTCAAAGTGAGAAGATGAATCAGTCACTACGATTATTTC (p.Arg812LeufsTer2)
c.4006_4007insTGTAACTAACTAACTATAATGGAATTATAACTAACTGACCTTAAGTTTCAAAGTGAGAAGATGAATCAGTCACTACGATTATTTC (p.Arg1336LeufsTer2)
c.1455_1456insTGTAACTAACTAACTATAATGGAATTATAACTAACTGACCTTAAGTTTCAAAGTGAGAAGATGAATCAGTCACTACGATTATTTC (n.1455_1456insTGTAACTAACTAACTATAATGGAATTATAACTAACTGACCTTAAGTTTCAAAGTGAGAAGATGAATCAGTCACTACGATTATTTC)
c.2773_2774insTGTAACTAACTAACTATAATGGAATTATAACTAACTGACCTTAAGTTTCAAAGTGAGAAGATGAATCAGTCACTACGATTATTTC (p.Arg925LeufsTer2)
n.2851_2852insTGTAACTAACTAACTATAATGGAATTATAACTAACTGACCTTAAGTTTCAAAGTGAGAAGATGAATCAGTCACTACGATTATTTC
n.5158_5159insTGTAACTAACTAACTATAATGGAATTATAACTAACTGACCTTAAGTTTCAAAGTGAGAAGATGAATCAGTCACTACGATTATTTC
n.2595_2596insTGTAACTAACTAACTATAATGGAATTATAACTAACTGACCTTAAGTTTCAAAGTGAGAAGATGAATCAGTCACTACGATTATTTC
n.2262_2263insTGTAACTAACTAACTATAATGGAATTATAACTAACTGACCTTAAGTTTCAAAGTGAGAAGATGAATCAGTCACTACGATTATTTC
n.2664_2665insTGTAACTAACTAACTATAATGGAATTATAACTAACTGACCTTAAGTTTCAAAGTGAGAAGATGAATCAGTCACTACGATTATTTC
n.1409_1410insTGTAACTAACTAACTATAATGGAATTATAACTAACTGACCTTAAGTTTCAAAGTGAGAAGATGAATCAGTCACTACGATTATTTC
n.3294_3295insTGTAACTAACTAACTATAATGGAATTATAACTAACTGACCTTAAGTTTCAAAGTGAGAAGATGAATCAGTCACTACGATTATTTC
n.4129_4130insCTTTGAAACTTAAGGTCAGTTAGTTATAATTCCATTATAGTTAGTTAGTTACAGAAATAATCGTAGTGACTGATTCATCTTCTCA
n.4391_4392insCTTTGAAACTTAAGGTCAGTTAGTTATAATTCCATTATAGTTAGTTAGTTACAGAAATAATCGTAGTGACTGATTCATCTTCTCA
c.4000_4001insTGTAACTAACTAACTATAATGGAATTATAACTAACTGACCTTAAGTTTCAAAGTGAGAAGATGAATCAGTCACTACGATTATTTC (p.Arg1334LeufsTer2)
c.3610_3611insTGTAACTAACTAACTATAATGGAATTATAACTAACTGACCTTAAGTTTCAAAGTGAGAAGATGAATCAGTCACTACGATTATTTC (p.Arg1204LeufsTer2)
c.169+1576_169+1577insCTTTGAAACTTAAGGTCAGTTAGTTATAATTCCATTATAGTTAGTTAGTTACAGAAATAATCGTAGTGACTGATTCATCTTCTCA (n.169+1576_169+1577insCTTTGAAACTTAAGGTCAGTTAGTTATAATTCCATTATAGTTAGTTAGTTACAGAAATAATCGTAGTGACTGATTCATCTTCTCA)
c.*124+1375_*124+1376insCTTTGAAACTTAAGGTCAGTTAGTTATAATTCCATTATAGTTAGTTAGTTACAGAAATAATCGTAGTGACTGATTCATCTTCTCA (n.*124+1375_*124+1376insCTTTGAAACTTAAGGTCAGTTAGTTATAATTCCATTATAGTTAGTTAGTTACAGAAATAATCGTAGTGACTGATTCATCTTCTCA)
c.*3347_*3348insTGTAACTAACTAACTATAATGGAATTATAACTAACTGACCTTAAGTTTCAAAGTGAGAAGATGAATCAGTCACTACGATTATTTC (n.*3347_*3348insTGTAACTAACTAACTATAATGGAATTATAACTAACTGACCTTAAGTTTCAAAGTGAGAAGATGAATCAGTCACTACGATTATTTC)
c.3094_3095insTGTAACTAACTAACTATAATGGAATTATAACTAACTGACCTTAAGTTTCAAAGTGAGAAGATGAATCAGTCACTACGATTATTTC (p.Arg1032LeufsTer2)
c.901_902insTGTAACTAACTAACTATAATGGAATTATAACTAACTGACCTTAAGTTTCAAAGTGAGAAGATGAATCAGTCACTACGATTATTTC (p.Arg301LeufsTer2)
c.3817_3818insTGTAACTAACTAACTATAATGGAATTATAACTAACTGACCTTAAGTTTCAAAGTGAGAAGATGAATCAGTCACTACGATTATTTC (p.Arg1273LeufsTer2)
c.4093_4094insTGTAACTAACTAACTATAATGGAATTATAACTAACTGACCTTAAGTTTCAAAGTGAGAAGATGAATCAGTCACTACGATTATTTC (p.Arg1365LeufsTer2)
c.3910_3911insTGTAACTAACTAACTATAATGGAATTATAACTAACTGACCTTAAGTTTCAAAGTGAGAAGATGAATCAGTCACTACGATTATTTC (p.Arg1304LeufsTer2)
c.3796_3797insTGTAACTAACTAACTATAATGGAATTATAACTAACTGACCTTAAGTTTCAAAGTGAGAAGATGAATCAGTCACTACGATTATTTC (p.Arg1266LeufsTer2)
c.3187_3188insTGTAACTAACTAACTATAATGGAATTATAACTAACTGACCTTAAGTTTCAAAGTGAGAAGATGAATCAGTCACTACGATTATTTC (p.Arg1063LeufsTer2)
 ClinVar dbSNP
2g.47806619_47806702dupCA330584FBXO11,MSH6c.3672_3704+51dup
c.3585_3617+51dup
n.4643_4675+51dup
c.2403_2435+51dup
c.3975_4007+51dup
c.1424_1456+51dup
c.2742_2774+51dup
n.2820_2903dup
n.5127_5210dup
n.2564_2596+51dup
n.2231_2263+51dup
n.2633_2665+51dup
n.1378_1410+51dup
n.3263_3295+51dup
n.4046_4129dup
n.4308_4391dup
c.3969_4001+51dup
c.3579_3611+51dup
c.169+1493_169+1576dup (n.169+1493_169+1576dup)
c.*124+1292_*124+1375dup (n.*124+1292_*124+1375dup)
c.*3316_*3348+51dup
c.3063_3095+51dup
c.870_902+51dup
c.3786_3818+51dup
c.4062_4094+51dup
c.3879_3911+51dup
c.3765_3797+51dup
c.3156_3188+51dup
2g.47806619_47806703dupCA348877FBXO11,MSH6c.3672_3704+52dup
c.3585_3617+52dup
n.4643_4675+52dup
c.2403_2435+52dup
c.3975_4007+52dup
c.1424_1456+52dup
c.2742_2774+52dup
n.2820_2904dup
n.5127_5211dup
n.2564_2596+52dup
n.2231_2263+52dup
n.2633_2665+52dup
n.1378_1410+52dup
n.3263_3295+52dup
n.4045_4129dup
n.4307_4391dup
c.3969_4001+52dup
c.3579_3611+52dup
c.169+1492_169+1576dup (n.169+1492_169+1576dup)
c.*124+1291_*124+1375dup (n.*124+1291_*124+1375dup)
c.*3316_*3348+52dup
c.3063_3095+52dup
c.870_902+52dup
c.3786_3818+52dup
c.4062_4094+52dup
c.3879_3911+52dup
c.3765_3797+52dup
c.3156_3188+52dup
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.47806621_47806651dupCA915943985FBXO11,MSH6c.3674_3704dup (p.Val1237AspfsTer15)
c.3587_3617dup (p.Val1208AspfsTer15)
n.4645_4675dup
c.2405_2435dup (p.Val814AspfsTer15)
c.3977_4007dup (p.Val1338AspfsTer15)
c.1426_1456dup (n.1426_1456dup)
c.2744_2774dup (p.Val927AspfsTer15)
n.2822_2852dup
n.5129_5159dup
n.2566_2596dup
n.2233_2263dup
n.2635_2665dup
n.1380_1410dup
n.3265_3295dup
n.4098_4128dup
n.4360_4390dup
c.3971_4001dup (p.Val1336AspfsTer15)
c.3581_3611dup (p.Val1206AspfsTer15)
c.169+1545_169+1575dup (n.169+1545_169+1575dup)
c.*124+1344_*124+1374dup (n.*124+1344_*124+1374dup)
c.*3318_*3348dup (n.*3318_*3348dup)
c.3065_3095dup (p.Val1034AspfsTer15)
c.872_902dup (p.Val303AspfsTer15)
c.3788_3818dup (p.Val1275AspfsTer15)
c.4064_4094dup (p.Val1367AspfsTer15)
c.3881_3911dup (p.Val1306AspfsTer15)
c.3767_3797dup (p.Val1268AspfsTer15)
c.3158_3188dup (p.Val1065AspfsTer15)
 ClinVar dbSNP
2g.47806628_47806645dupCA658655772FBXO11,MSH6c.3681_3698dup (p.Leu1233_Phe1234insAsnGlnSerLeuArgLeu)
c.3594_3611dup (p.Leu1204_Phe1205insAsnGlnSerLeuArgLeu)
n.4652_4669dup
c.2412_2429dup (p.Leu810_Phe811insAsnGlnSerLeuArgLeu)
c.3984_4001dup (p.Leu1334_Phe1335insAsnGlnSerLeuArgLeu)
c.1433_1450dup (n.1433_1450dup)
c.2751_2768dup (p.Leu923_Phe924insAsnGlnSerLeuArgLeu)
n.2829_2846dup
n.5136_5153dup
n.2573_2590dup
n.2240_2257dup
n.2642_2659dup
n.1387_1404dup
n.3272_3289dup
n.4104_4121dup
n.4366_4383dup
c.3978_3995dup (p.Leu1332_Phe1333insAsnGlnSerLeuArgLeu)
c.3588_3605dup (p.Leu1202_Phe1203insAsnGlnSerLeuArgLeu)
c.169+1551_169+1568dup (n.169+1551_169+1568dup)
c.*124+1350_*124+1367dup (n.*124+1350_*124+1367dup)
c.*3325_*3342dup (n.*3325_*3342dup)
c.3072_3089dup (p.Leu1030_Phe1031insAsnGlnSerLeuArgLeu)
c.879_896dup (p.Leu299_Phe300insAsnGlnSerLeuArgLeu)
c.3795_3812dup (p.Leu1271_Phe1272insAsnGlnSerLeuArgLeu)
c.4071_4088dup (p.Leu1363_Phe1364insAsnGlnSerLeuArgLeu)
c.3888_3905dup (p.Leu1302_Phe1303insAsnGlnSerLeuArgLeu)
c.3774_3791dup (p.Leu1264_Phe1265insAsnGlnSerLeuArgLeu)
c.3165_3182dup (p.Leu1061_Phe1062insAsnGlnSerLeuArgLeu)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.47806629_47806652dupCA532705512FBXO11,MSH6c.3682_3704+1dup
c.3595_3617+1dup
n.4653_4675+1dup
c.2413_2435+1dup
c.3985_4007+1dup
c.1434_1456+1dup
c.2752_2774+1dup
n.2830_2853dup
n.5137_5160dup
n.2574_2596+1dup
n.2241_2263+1dup
n.2643_2665+1dup
n.1388_1410+1dup
n.3273_3295+1dup
n.4097_4120dup
n.4359_4382dup
c.3979_4001+1dup
c.3589_3611+1dup
c.169+1544_169+1567dup (n.169+1544_169+1567dup)
c.*124+1343_*124+1366dup (n.*124+1343_*124+1366dup)
c.*3326_*3348+1dup
c.3073_3095+1dup
c.880_902+1dup
c.3796_3818+1dup
c.4072_4094+1dup
c.3889_3911+1dup
c.3775_3797+1dup
c.3166_3188+1dup
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.47806634_47806637dupCA015007FBXO11,MSH6c.3687_3690dup (p.Leu1231ValfsTer12)
c.3600_3603dup (p.Leu1202ValfsTer12)
n.4658_4661dup
c.2418_2421dup (p.Leu808ValfsTer12)
c.3990_3993dup (p.Leu1332ValfsTer12)
c.1439_1442dup (n.1439_1442dup)
c.2757_2760dup (p.Leu921ValfsTer12)
n.2835_2838dup
n.5142_5145dup
n.2579_2582dup
n.2246_2249dup
n.2648_2651dup
n.1393_1396dup
n.3278_3281dup
n.4114_4117dup
n.4376_4379dup
c.3984_3987dup (p.Leu1330ValfsTer12)
c.3594_3597dup (p.Leu1200ValfsTer12)
c.169+1561_169+1564dup (n.169+1561_169+1564dup)
c.*124+1360_*124+1363dup (n.*124+1360_*124+1363dup)
c.*3331_*3334dup (n.*3331_*3334dup)
c.3078_3081dup (p.Leu1028ValfsTer12)
c.885_888dup (p.Leu297ValfsTer12)
c.3801_3804dup (p.Leu1269ValfsTer12)
c.4077_4080dup (p.Leu1361ValfsTer12)
c.3894_3897dup (p.Leu1300ValfsTer12)
c.3780_3783dup (p.Leu1262ValfsTer12)
c.3171_3174dup (p.Leu1059ValfsTer12)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.47806634_47806637delCA2739292175FBXO11,MSH6c.3687_3690del (p.Gln1229HisfsTer17)
c.3600_3603del (p.Gln1200HisfsTer17)
n.4658_4661del
c.2418_2421del (p.Gln806HisfsTer17)
c.3990_3993del (p.Gln1330HisfsTer17)
c.1439_1442del (n.1439_1442del)
c.2757_2760del (p.Gln919HisfsTer17)
n.2835_2838del
n.5142_5145del
n.2579_2582del
n.2246_2249del
n.2648_2651del
n.1393_1396del
n.3278_3281del
n.4114_4117del
n.4376_4379del
c.3984_3987del (p.Gln1328HisfsTer17)
c.3594_3597del (p.Gln1198HisfsTer17)
c.169+1561_169+1564del (n.169+1561_169+1564del)
c.*124+1360_*124+1363del (n.*124+1360_*124+1363del)
c.*3331_*3334del (n.*3331_*3334del)
c.3078_3081del (p.Gln1026HisfsTer17)
c.885_888del (p.Gln295HisfsTer17)
c.3801_3804del (p.Gln1267HisfsTer17)
c.4077_4080del (p.Gln1359HisfsTer17)
c.3894_3897del (p.Gln1298HisfsTer17)
c.3780_3783del (p.Gln1260HisfsTer17)
c.3171_3174del (p.Gln1057HisfsTer17)
2g.47806635T>ACA346761585FBXO11,MSH6c.3688T>A (p.Ser1230Thr)
c.3601T>A (p.Ser1201Thr)
n.4659T>A
c.2419T>A (p.Ser807Thr)
c.3991T>A (p.Ser1331Thr)
c.1440T>A (n.1440T>A)
c.2758T>A (p.Ser920Thr)
n.2836T>A
n.5143T>A
n.2580T>A
n.2247T>A
n.2649T>A
n.1394T>A
n.3279T>A
n.4113A>T
n.4375A>T
c.3985T>A (p.Ser1329Thr)
c.3595T>A (p.Ser1199Thr)
c.169+1560A>T (n.169+1560A>T)
c.*124+1359A>T (n.*124+1359A>T)
c.*3332T>A (n.*3332T>A)
c.3079T>A (p.Ser1027Thr)
c.886T>A (p.Ser296Thr)
c.3802T>A (p.Ser1268Thr)
c.4078T>A (p.Ser1360Thr)
c.3895T>A (p.Ser1299Thr)
c.3781T>A (p.Ser1261Thr)
c.3172T>A (p.Ser1058Thr)
 ClinVar dbSNP
2g.47806635T>CCA346761587FBXO11,MSH6c.3688T>C (p.Ser1230Pro)
c.3601T>C (p.Ser1201Pro)
n.4659T>C
c.2419T>C (p.Ser807Pro)
c.3991T>C (p.Ser1331Pro)
c.1440T>C (n.1440T>C)
c.2758T>C (p.Ser920Pro)
n.2836T>C
n.5143T>C
n.2580T>C
n.2247T>C
n.2649T>C
n.1394T>C
n.3279T>C
n.4113A>G
n.4375A>G
c.3985T>C (p.Ser1329Pro)
c.3595T>C (p.Ser1199Pro)
c.169+1560A>G (n.169+1560A>G)
c.*124+1359A>G (n.*124+1359A>G)
c.*3332T>C (n.*3332T>C)
c.3079T>C (p.Ser1027Pro)
c.886T>C (p.Ser296Pro)
c.3802T>C (p.Ser1268Pro)
c.4078T>C (p.Ser1360Pro)
c.3895T>C (p.Ser1299Pro)
c.3781T>C (p.Ser1261Pro)
c.3172T>C (p.Ser1058Pro)
 ClinVar
2g.47806635T>GCA346761586FBXO11,MSH6c.3688T>G (p.Ser1230Ala)
c.3601T>G (p.Ser1201Ala)
n.4659T>G
c.2419T>G (p.Ser807Ala)
c.3991T>G (p.Ser1331Ala)
c.1440T>G (n.1440T>G)
c.2758T>G (p.Ser920Ala)
n.2836T>G
n.5143T>G
n.2580T>G
n.2247T>G
n.2649T>G
n.1394T>G
n.3279T>G
n.4113A>C
n.4375A>C
c.3985T>G (p.Ser1329Ala)
c.3595T>G (p.Ser1199Ala)
c.169+1560A>C (n.169+1560A>C)
c.*124+1359A>C (n.*124+1359A>C)
c.*3332T>G (n.*3332T>G)
c.3079T>G (p.Ser1027Ala)
c.886T>G (p.Ser296Ala)
c.3802T>G (p.Ser1268Ala)
c.4078T>G (p.Ser1360Ala)
c.3895T>G (p.Ser1299Ala)
c.3781T>G (p.Ser1261Ala)
c.3172T>G (p.Ser1058Ala)
 dbSNP
2g.47806635_47806638delinsAATTTTGAGAAGATGAAGTCA2697548136FBXO11,MSH6c.3688_3691delinsAATTTTGAGAAGATGAAGT (p.Ser1230delinsAsnPheGluLysMetLys)
c.3601_3604delinsAATTTTGAGAAGATGAAGT (p.Ser1201delinsAsnPheGluLysMetLys)
n.4659_4662delinsAATTTTGAGAAGATGAAGT
c.2419_2422delinsAATTTTGAGAAGATGAAGT (p.Ser807delinsAsnPheGluLysMetLys)
c.3991_3994delinsAATTTTGAGAAGATGAAGT (p.Ser1331delinsAsnPheGluLysMetLys)
c.1440_1443delinsAATTTTGAGAAGATGAAGT (n.1440_1443delinsAATTTTGAGAAGATGAAGT)
c.2758_2761delinsAATTTTGAGAAGATGAAGT (p.Ser920delinsAsnPheGluLysMetLys)
n.2836_2839delinsAATTTTGAGAAGATGAAGT
n.5143_5146delinsAATTTTGAGAAGATGAAGT
n.2580_2583delinsAATTTTGAGAAGATGAAGT
n.2247_2250delinsAATTTTGAGAAGATGAAGT
n.2649_2652delinsAATTTTGAGAAGATGAAGT
n.1394_1397delinsAATTTTGAGAAGATGAAGT
n.3279_3282delinsAATTTTGAGAAGATGAAGT
n.4110_4113delinsACTTCATCTTCTCAAAATT
n.4372_4375delinsACTTCATCTTCTCAAAATT
c.3985_3988delinsAATTTTGAGAAGATGAAGT (p.Ser1329delinsAsnPheGluLysMetLys)
c.3595_3598delinsAATTTTGAGAAGATGAAGT (p.Ser1199delinsAsnPheGluLysMetLys)
c.169+1557_169+1560delinsACTTCATCTTCTCAAAATT (n.169+1557_169+1560delinsACTTCATCTTCTCAAAATT)
c.*124+1356_*124+1359delinsACTTCATCTTCTCAAAATT (n.*124+1356_*124+1359delinsACTTCATCTTCTCAAAATT)
c.*3332_*3335delinsAATTTTGAGAAGATGAAGT (n.*3332_*3335delinsAATTTTGAGAAGATGAAGT)
c.3079_3082delinsAATTTTGAGAAGATGAAGT (p.Ser1027delinsAsnPheGluLysMetLys)
c.886_889delinsAATTTTGAGAAGATGAAGT (p.Ser296delinsAsnPheGluLysMetLys)
c.3802_3805delinsAATTTTGAGAAGATGAAGT (p.Ser1268delinsAsnPheGluLysMetLys)
c.4078_4081delinsAATTTTGAGAAGATGAAGT (p.Ser1360delinsAsnPheGluLysMetLys)
c.3895_3898delinsAATTTTGAGAAGATGAAGT (p.Ser1299delinsAsnPheGluLysMetLys)
c.3781_3784delinsAATTTTGAGAAGATGAAGT (p.Ser1261delinsAsnPheGluLysMetLys)
c.3172_3175delinsAATTTTGAGAAGATGAAGT (p.Ser1058delinsAsnPheGluLysMetLys)
 ClinVar
2g.47806636C>ACA346761588FBXO11,MSH6c.3689C>A (p.Ser1230Ter)
c.3602C>A (p.Ser1201Ter)
n.4660C>A
c.2420C>A (p.Ser807Ter)
c.3992C>A (p.Ser1331Ter)
c.1441C>A (n.1441C>A)
c.2759C>A (p.Ser920Ter)
n.2837C>A
n.5144C>A
n.2581C>A
n.2248C>A
n.2650C>A
n.1395C>A
n.3280C>A
n.4112G>T
n.4374G>T
c.3986C>A (p.Ser1329Ter)
c.3596C>A (p.Ser1199Ter)
c.169+1559G>T (n.169+1559G>T)
c.*124+1358G>T (n.*124+1358G>T)
c.*3333C>A (n.*3333C>A)
c.3080C>A (p.Ser1027Ter)
c.887C>A (p.Ser296Ter)
c.3803C>A (p.Ser1268Ter)
c.4079C>A (p.Ser1360Ter)
c.3896C>A (p.Ser1299Ter)
c.3782C>A (p.Ser1261Ter)
c.3173C>A (p.Ser1058Ter)
 ClinVar dbSNP gnomAD v4
2g.47806636C=CA2496054356FBXO11,MSH6c.3689C= (p.Ser1230=)
c.3602C= (p.Ser1201=)
n.4660C=
c.2420C= (p.Ser807=)
c.3992C= (p.Ser1331=)
c.1441C= (n.1441C=)
c.2759C= (p.Ser920=)
n.2837C=
n.5144C=
n.2581C=
n.2248C=
n.2650C=
n.1395C=
n.3280C=
n.4112G=
n.4374G=
c.3986C= (p.Ser1329=)
c.3596C= (p.Ser1199=)
c.169+1559G= (n.169+1559G=)
c.*124+1358G= (n.*124+1358G=)
c.*3333C= (n.*3333C=)
c.3080C= (p.Ser1027=)
c.887C= (p.Ser296=)
c.3803C= (p.Ser1268=)
c.4079C= (p.Ser1360=)
c.3896C= (p.Ser1299=)
c.3782C= (p.Ser1261=)
c.3173C= (p.Ser1058=)
2g.47806636C>GCA346761589FBXO11,MSH6c.3689C>G (p.Ser1230Ter)
c.3602C>G (p.Ser1201Ter)
n.4660C>G
c.2420C>G (p.Ser807Ter)
c.3992C>G (p.Ser1331Ter)
c.1441C>G (n.1441C>G)
c.2759C>G (p.Ser920Ter)
n.2837C>G
n.5144C>G
n.2581C>G
n.2248C>G
n.2650C>G
n.1395C>G
n.3280C>G
n.4112G>C
n.4374G>C
c.3986C>G (p.Ser1329Ter)
c.3596C>G (p.Ser1199Ter)
c.169+1559G>C (n.169+1559G>C)
c.*124+1358G>C (n.*124+1358G>C)
c.*3333C>G (n.*3333C>G)
c.3080C>G (p.Ser1027Ter)
c.887C>G (p.Ser296Ter)
c.3803C>G (p.Ser1268Ter)
c.4079C>G (p.Ser1360Ter)
c.3896C>G (p.Ser1299Ter)
c.3782C>G (p.Ser1261Ter)
c.3173C>G (p.Ser1058Ter)
 dbSNP
2g.47806636C>TCA015038FBXO11,MSH6c.3689C>T (p.Ser1230Leu)
c.3602C>T (p.Ser1201Leu)
n.4660C>T
c.2420C>T (p.Ser807Leu)
c.3992C>T (p.Ser1331Leu)
c.1441C>T (n.1441C>T)
c.2759C>T (p.Ser920Leu)
n.2837C>T
n.5144C>T
n.2581C>T
n.2248C>T
n.2650C>T
n.1395C>T
n.3280C>T
n.4112G>A
n.4374G>A
c.3986C>T (p.Ser1329Leu)
c.3596C>T (p.Ser1199Leu)
c.169+1559G>A (n.169+1559G>A)
c.*124+1358G>A (n.*124+1358G>A)
c.*3333C>T (n.*3333C>T)
c.3080C>T (p.Ser1027Leu)
c.887C>T (p.Ser296Leu)
c.3803C>T (p.Ser1268Leu)
c.4079C>T (p.Ser1360Leu)
c.3896C>T (p.Ser1299Leu)
c.3782C>T (p.Ser1261Leu)
c.3173C>T (p.Ser1058Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.47806637A=CA2496054357FBXO11,MSH6c.3690A= (p.Ser1230=)
c.3603A= (p.Ser1201=)
n.4661A=
c.2421A= (p.Ser807=)
c.3993A= (p.Ser1331=)
c.1442A= (n.1442A=)
c.2760A= (p.Ser920=)
n.2838A=
n.5145A=
n.2582A=
n.2249A=
n.2651A=
n.1396A=
n.3281A=
n.4111T=
n.4373T=
c.3987A= (p.Ser1329=)
c.3597A= (p.Ser1199=)
c.169+1558T= (n.169+1558T=)
c.*124+1357T= (n.*124+1357T=)
c.*3334A= (n.*3334A=)
c.3081A= (p.Ser1027=)
c.888A= (p.Ser296=)
c.3804A= (p.Ser1268=)
c.4080A= (p.Ser1360=)
c.3897A= (p.Ser1299=)
c.3783A= (p.Ser1261=)
c.3174A= (p.Ser1058=)
2g.47806637A>CCA426122215FBXO11,MSH6c.3690A>C (p.Ser1230=)
c.3603A>C (p.Ser1201=)
n.4661A>C
c.2421A>C (p.Ser807=)
c.3993A>C (p.Ser1331=)
c.1442A>C (n.1442A>C)
c.2760A>C (p.Ser920=)
n.2838A>C
n.5145A>C
n.2582A>C
n.2249A>C
n.2651A>C
n.1396A>C
n.3281A>C
n.4111T>G
n.4373T>G
c.3987A>C (p.Ser1329=)
c.3597A>C (p.Ser1199=)
c.169+1558T>G (n.169+1558T>G)
c.*124+1357T>G (n.*124+1357T>G)
c.*3334A>C (n.*3334A>C)
c.3081A>C (p.Ser1027=)
c.888A>C (p.Ser296=)
c.3804A>C (p.Ser1268=)
c.4080A>C (p.Ser1360=)
c.3897A>C (p.Ser1299=)
c.3783A>C (p.Ser1261=)
c.3174A>C (p.Ser1058=)
 ClinVar dbSNP
2g.47806637A>GCA426122216FBXO11,MSH6c.3690A>G (p.Ser1230=)
c.3603A>G (p.Ser1201=)
n.4661A>G
c.2421A>G (p.Ser807=)
c.3993A>G (p.Ser1331=)
c.1442A>G (n.1442A>G)
c.2760A>G (p.Ser920=)
n.2838A>G
n.5145A>G
n.2582A>G
n.2249A>G
n.2651A>G
n.1396A>G
n.3281A>G
n.4111T>C
n.4373T>C
c.3987A>G (p.Ser1329=)
c.3597A>G (p.Ser1199=)
c.169+1558T>C (n.169+1558T>C)
c.*124+1357T>C (n.*124+1357T>C)
c.*3334A>G (n.*3334A>G)
c.3081A>G (p.Ser1027=)
c.888A>G (p.Ser296=)
c.3804A>G (p.Ser1268=)
c.4080A>G (p.Ser1360=)
c.3897A>G (p.Ser1299=)
c.3783A>G (p.Ser1261=)
c.3174A>G (p.Ser1058=)
 dbSNP gnomAD v4
2g.47806637A>TCA426122217FBXO11,MSH6c.3690A>T (p.Ser1230=)
c.3603A>T (p.Ser1201=)
n.4661A>T
c.2421A>T (p.Ser807=)
c.3993A>T (p.Ser1331=)
c.1442A>T (n.1442A>T)
c.2760A>T (p.Ser920=)
n.2838A>T
n.5145A>T
n.2582A>T
n.2249A>T
n.2651A>T
n.1396A>T
n.3281A>T
n.4111T>A
n.4373T>A
c.3987A>T (p.Ser1329=)
c.3597A>T (p.Ser1199=)
c.169+1558T>A (n.169+1558T>A)
c.*124+1357T>A (n.*124+1357T>A)
c.*3334A>T (n.*3334A>T)
c.3081A>T (p.Ser1027=)
c.888A>T (p.Ser296=)
c.3804A>T (p.Ser1268=)
c.4080A>T (p.Ser1360=)
c.3897A>T (p.Ser1299=)
c.3783A>T (p.Ser1261=)
c.3174A>T (p.Ser1058=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.47806637dupCA913189182FBXO11,MSH6c.3690dup (p.Leu1231ThrfsTer11)
c.3603dup (p.Leu1202ThrfsTer11)
n.4661dup
c.2421dup (p.Leu808ThrfsTer11)
c.3993dup (p.Leu1332ThrfsTer11)
c.1442dup (n.1442dup)
c.2760dup (p.Leu921ThrfsTer11)
n.2838dup
n.5145dup
n.2582dup
n.2249dup
n.2651dup
n.1396dup
n.3281dup
n.4111dup
n.4373dup
c.3987dup (p.Leu1330ThrfsTer11)
c.3597dup (p.Leu1200ThrfsTer11)
c.169+1558dup (n.169+1558dup)
c.*124+1357dup (n.*124+1357dup)
c.*3334dup (n.*3334dup)
c.3081dup (p.Leu1028ThrfsTer11)
c.888dup (p.Leu297ThrfsTer11)
c.3804dup (p.Leu1269ThrfsTer11)
c.4080dup (p.Leu1361ThrfsTer11)
c.3897dup (p.Leu1300ThrfsTer11)
c.3783dup (p.Leu1262ThrfsTer11)
c.3174dup (p.Leu1059ThrfsTer11)
2g.47806639_47806641delCA2580067535FBXO11,MSH6c.3692_3694del (p.Leu1231del)
c.3605_3607del (p.Leu1202del)
n.4663_4665del
c.2423_2425del (p.Leu808del)
c.3995_3997del (p.Leu1332del)
c.1444_1446del (n.1444_1446del)
c.2762_2764del (p.Leu921del)
n.2840_2842del
n.5147_5149del
n.2584_2586del
n.2251_2253del
n.2653_2655del
n.1398_1400del
n.3283_3285del
n.4109_4111del
n.4371_4373del
c.3989_3991del (p.Leu1330del)
c.3599_3601del (p.Leu1200del)
c.169+1556_169+1558del (n.169+1556_169+1558del)
c.*124+1355_*124+1357del (n.*124+1355_*124+1357del)
c.*3336_*3338del (n.*3336_*3338del)
c.3083_3085del (p.Leu1028del)
c.890_892del (p.Leu297del)
c.3806_3808del (p.Leu1269del)
c.4082_4084del (p.Leu1361del)
c.3899_3901del (p.Leu1300del)
c.3785_3787del (p.Leu1262del)
c.3176_3178del (p.Leu1059del)
 ClinVar
2g.47806638C>ACA346761590FBXO11,MSH6c.3691C>A (p.Leu1231Ile)
c.3604C>A (p.Leu1202Ile)
n.4662C>A
c.2422C>A (p.Leu808Ile)
c.3994C>A (p.Leu1332Ile)
c.1443C>A (n.1443C>A)
c.2761C>A (p.Leu921Ile)
n.2839C>A
n.5146C>A
n.2583C>A
n.2250C>A
n.2652C>A
n.1397C>A
n.3282C>A
n.4110G>T
n.4372G>T
c.3988C>A (p.Leu1330Ile)
c.3598C>A (p.Leu1200Ile)
c.169+1557G>T (n.169+1557G>T)
c.*124+1356G>T (n.*124+1356G>T)
c.*3335C>A (n.*3335C>A)
c.3082C>A (p.Leu1028Ile)
c.889C>A (p.Leu297Ile)
c.3805C>A (p.Leu1269Ile)
c.4081C>A (p.Leu1361Ile)
c.3898C>A (p.Leu1300Ile)
c.3784C>A (p.Leu1262Ile)
c.3175C>A (p.Leu1059Ile)
 ClinVar dbSNP
2g.47806638C=CA2496054358FBXO11,MSH6c.3691C= (p.Leu1231=)
c.3604C= (p.Leu1202=)
n.4662C=
c.2422C= (p.Leu808=)
c.3994C= (p.Leu1332=)
c.1443C= (n.1443C=)
c.2761C= (p.Leu921=)
n.2839C=
n.5146C=
n.2583C=
n.2250C=
n.2652C=
n.1397C=
n.3282C=
n.4110G=
n.4372G=
c.3988C= (p.Leu1330=)
c.3598C= (p.Leu1200=)
c.169+1557G= (n.169+1557G=)
c.*124+1356G= (n.*124+1356G=)
c.*3335C= (n.*3335C=)
c.3082C= (p.Leu1028=)
c.889C= (p.Leu297=)
c.3805C= (p.Leu1269=)
c.4081C= (p.Leu1361=)
c.3898C= (p.Leu1300=)
c.3784C= (p.Leu1262=)
c.3175C= (p.Leu1059=)
2g.47806638C>GCA16610987FBXO11,MSH6c.3691C>G (p.Leu1231Val)
c.3604C>G (p.Leu1202Val)
n.4662C>G
c.2422C>G (p.Leu808Val)
c.3994C>G (p.Leu1332Val)
c.1443C>G (n.1443C>G)
c.2761C>G (p.Leu921Val)
n.2839C>G
n.5146C>G
n.2583C>G
n.2250C>G
n.2652C>G
n.1397C>G
n.3282C>G
n.4110G>C
n.4372G>C
c.3988C>G (p.Leu1330Val)
c.3598C>G (p.Leu1200Val)
c.169+1557G>C (n.169+1557G>C)
c.*124+1356G>C (n.*124+1356G>C)
c.*3335C>G (n.*3335C>G)
c.3082C>G (p.Leu1028Val)
c.889C>G (p.Leu297Val)
c.3805C>G (p.Leu1269Val)
c.4081C>G (p.Leu1361Val)
c.3898C>G (p.Leu1300Val)
c.3784C>G (p.Leu1262Val)
c.3175C>G (p.Leu1059Val)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.47806638C>TCA072445FBXO11,MSH6c.3691C>T (p.Leu1231=)
c.3604C>T (p.Leu1202=)
n.4662C>T
c.2422C>T (p.Leu808=)
c.3994C>T (p.Leu1332=)
c.1443C>T (n.1443C>T)
c.2761C>T (p.Leu921=)
n.2839C>T
n.5146C>T
n.2583C>T
n.2250C>T
n.2652C>T
n.1397C>T
n.3282C>T
n.4110G>A
n.4372G>A
c.3988C>T (p.Leu1330=)
c.3598C>T (p.Leu1200=)
c.169+1557G>A (n.169+1557G>A)
c.*124+1356G>A (n.*124+1356G>A)
c.*3335C>T (n.*3335C>T)
c.3082C>T (p.Leu1028=)
c.889C>T (p.Leu297=)
c.3805C>T (p.Leu1269=)
c.4081C>T (p.Leu1361=)
c.3898C>T (p.Leu1300=)
c.3784C>T (p.Leu1262=)
c.3175C>T (p.Leu1059=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.47806639_47806650dupCA2658968748FBXO11,MSH6c.3692_3703dup (p.Phe1234_Arg1235insLeuArgLeuPhe)
c.3605_3616dup (p.Phe1205_Arg1206insLeuArgLeuPhe)
n.4663_4674dup
c.2423_2434dup (p.Phe811_Arg812insLeuArgLeuPhe)
c.3995_4006dup (p.Phe1335_Arg1336insLeuArgLeuPhe)
c.1444_1455dup (n.1444_1455dup)
c.2762_2773dup (p.Phe924_Arg925insLeuArgLeuPhe)
n.2840_2851dup
n.5147_5158dup
n.2584_2595dup
n.2251_2262dup
n.2653_2664dup
n.1398_1409dup
n.3283_3294dup
n.4099_4110dup
n.4361_4372dup
c.3989_4000dup (p.Phe1333_Arg1334insLeuArgLeuPhe)
c.3599_3610dup (p.Phe1203_Arg1204insLeuArgLeuPhe)
c.169+1546_169+1557dup (n.169+1546_169+1557dup)
c.*124+1345_*124+1356dup (n.*124+1345_*124+1356dup)
c.*3336_*3347dup (n.*3336_*3347dup)
c.3083_3094dup (p.Phe1031_Arg1032insLeuArgLeuPhe)
c.890_901dup (p.Phe300_Arg301insLeuArgLeuPhe)
c.3806_3817dup (p.Phe1272_Arg1273insLeuArgLeuPhe)
c.4082_4093dup (p.Phe1364_Arg1365insLeuArgLeuPhe)
c.3899_3910dup (p.Phe1303_Arg1304insLeuArgLeuPhe)
c.3785_3796dup (p.Phe1265_Arg1266insLeuArgLeuPhe)
c.3176_3187dup (p.Phe1062_Arg1063insLeuArgLeuPhe)
 gnomAD v4
2g.47806639T>ACA346761591FBXO11,MSH6c.3692T>A (p.Leu1231Gln)
c.3605T>A (p.Leu1202Gln)
n.4663T>A
c.2423T>A (p.Leu808Gln)
c.3995T>A (p.Leu1332Gln)
c.1444T>A (n.1444T>A)
c.2762T>A (p.Leu921Gln)
n.2840T>A
n.5147T>A
n.2584T>A
n.2251T>A
n.2653T>A
n.1398T>A
n.3283T>A
n.4109A>T
n.4371A>T
c.3989T>A (p.Leu1330Gln)
c.3599T>A (p.Leu1200Gln)
c.169+1556A>T (n.169+1556A>T)
c.*124+1355A>T (n.*124+1355A>T)
c.*3336T>A (n.*3336T>A)
c.3083T>A (p.Leu1028Gln)
c.890T>A (p.Leu297Gln)
c.3806T>A (p.Leu1269Gln)
c.4082T>A (p.Leu1361Gln)
c.3899T>A (p.Leu1300Gln)
c.3785T>A (p.Leu1262Gln)
c.3176T>A (p.Leu1059Gln)
2g.47806639T>CCA346761592FBXO11,MSH6c.3692T>C (p.Leu1231Pro)
c.3605T>C (p.Leu1202Pro)
n.4663T>C
c.2423T>C (p.Leu808Pro)
c.3995T>C (p.Leu1332Pro)
c.1444T>C (n.1444T>C)
c.2762T>C (p.Leu921Pro)
n.2840T>C
n.5147T>C
n.2584T>C
n.2251T>C
n.2653T>C
n.1398T>C
n.3283T>C
n.4109A>G
n.4371A>G
c.3989T>C (p.Leu1330Pro)
c.3599T>C (p.Leu1200Pro)
c.169+1556A>G (n.169+1556A>G)
c.*124+1355A>G (n.*124+1355A>G)
c.*3336T>C (n.*3336T>C)
c.3083T>C (p.Leu1028Pro)
c.890T>C (p.Leu297Pro)
c.3806T>C (p.Leu1269Pro)
c.4082T>C (p.Leu1361Pro)
c.3899T>C (p.Leu1300Pro)
c.3785T>C (p.Leu1262Pro)
c.3176T>C (p.Leu1059Pro)
 ClinVar
2g.47806639T>GCA072450FBXO11,MSH6c.3692T>G (p.Leu1231Arg)
c.3605T>G (p.Leu1202Arg)
n.4663T>G
c.2423T>G (p.Leu808Arg)
c.3995T>G (p.Leu1332Arg)
c.1444T>G (n.1444T>G)
c.2762T>G (p.Leu921Arg)
n.2840T>G
n.5147T>G
n.2584T>G
n.2251T>G
n.2653T>G
n.1398T>G
n.3283T>G
n.4109A>C
n.4371A>C
c.3989T>G (p.Leu1330Arg)
c.3599T>G (p.Leu1200Arg)
c.169+1556A>C (n.169+1556A>C)
c.*124+1355A>C (n.*124+1355A>C)
c.*3336T>G (n.*3336T>G)
c.3083T>G (p.Leu1028Arg)
c.890T>G (p.Leu297Arg)
c.3806T>G (p.Leu1269Arg)
c.4082T>G (p.Leu1361Arg)
c.3899T>G (p.Leu1300Arg)
c.3785T>G (p.Leu1262Arg)
c.3176T>G (p.Leu1059Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.47806639T=CA2496054359FBXO11,MSH6c.3692T= (p.Leu1231=)
c.3605T= (p.Leu1202=)
n.4663T=
c.2423T= (p.Leu808=)
c.3995T= (p.Leu1332=)
c.1444T= (n.1444T=)
c.2762T= (p.Leu921=)
n.2840T=
n.5147T=
n.2584T=
n.2251T=
n.2653T=
n.1398T=
n.3283T=
n.4109A=
n.4371A=
c.3989T= (p.Leu1330=)
c.3599T= (p.Leu1200=)
c.169+1556A= (n.169+1556A=)
c.*124+1355A= (n.*124+1355A=)
c.*3336T= (n.*3336T=)
c.3083T= (p.Leu1028=)
c.890T= (p.Leu297=)
c.3806T= (p.Leu1269=)
c.4082T= (p.Leu1361=)
c.3899T= (p.Leu1300=)
c.3785T= (p.Leu1262=)
c.3176T= (p.Leu1059=)
2g.47806639_47806719dupCA913188063FBXO11,MSH6c.3692_3705-60dup
c.3605_3618-60dup
n.4663_4676-60dup
c.2423_2436-60dup
c.3995_4008-60dup
c.1444_1457-60dup
c.2762_2775-60dup
n.2840_2920dup
n.5147_5227dup
n.2584_2597-60dup
n.2251_2264-60dup
n.2653_2666-60dup
n.1398_1411-60dup
n.3283_3296-60dup
n.4029_4109dup
n.4291_4371dup
c.3989_4002-60dup
c.3599_3612-60dup
c.169+1476_169+1556dup (n.169+1476_169+1556dup)
c.*124+1275_*124+1355dup (n.*124+1275_*124+1355dup)
c.*3336_*3349-60dup
c.3083_3096-60dup
c.890_903-60dup
c.3806_3819-60dup
c.4082_4095-60dup
c.3899_3912-60dup
c.3785_3798-60dup
c.3176_3189-60dup
 ClinVar dbSNP
2g.47806640A=CA2496054360FBXO11,MSH6c.3693A= (p.Leu1231=)
c.3606A= (p.Leu1202=)
n.4664A=
c.2424A= (p.Leu808=)
c.3996A= (p.Leu1332=)
c.1445A= (n.1445A=)
c.2763A= (p.Leu921=)
n.2841A=
n.5148A=
n.2585A=
n.2252A=
n.2654A=
n.1399A=
n.3284A=
n.4108T=
n.4370T=
c.3990A= (p.Leu1330=)
c.3600A= (p.Leu1200=)
c.169+1555T= (n.169+1555T=)
c.*124+1354T= (n.*124+1354T=)
c.*3337A= (n.*3337A=)
c.3084A= (p.Leu1028=)
c.891A= (p.Leu297=)
c.3807A= (p.Leu1269=)
c.4083A= (p.Leu1361=)
c.3900A= (p.Leu1300=)
c.3786A= (p.Leu1262=)
c.3177A= (p.Leu1059=)
2g.47806640A>CCA426122221FBXO11,MSH6c.3693A>C (p.Leu1231=)
c.3606A>C (p.Leu1202=)
n.4664A>C
c.2424A>C (p.Leu808=)
c.3996A>C (p.Leu1332=)
c.1445A>C (n.1445A>C)
c.2763A>C (p.Leu921=)
n.2841A>C
n.5148A>C
n.2585A>C
n.2252A>C
n.2654A>C
n.1399A>C
n.3284A>C
n.4108T>G
n.4370T>G
c.3990A>C (p.Leu1330=)
c.3600A>C (p.Leu1200=)
c.169+1555T>G (n.169+1555T>G)
c.*124+1354T>G (n.*124+1354T>G)
c.*3337A>C (n.*3337A>C)
c.3084A>C (p.Leu1028=)
c.891A>C (p.Leu297=)
c.3807A>C (p.Leu1269=)
c.4083A>C (p.Leu1361=)
c.3900A>C (p.Leu1300=)
c.3786A>C (p.Leu1262=)
c.3177A>C (p.Leu1059=)
 ClinVar dbSNP gnomAD v4
2g.47806640A>GCA426122220FBXO11,MSH6c.3693A>G (p.Leu1231=)
c.3606A>G (p.Leu1202=)
n.4664A>G
c.2424A>G (p.Leu808=)
c.3996A>G (p.Leu1332=)
c.1445A>G (n.1445A>G)
c.2763A>G (p.Leu921=)
n.2841A>G
n.5148A>G
n.2585A>G
n.2252A>G
n.2654A>G
n.1399A>G
n.3284A>G
n.4108T>C
n.4370T>C
c.3990A>G (p.Leu1330=)
c.3600A>G (p.Leu1200=)
c.169+1555T>C (n.169+1555T>C)
c.*124+1354T>C (n.*124+1354T>C)
c.*3337A>G (n.*3337A>G)
c.3084A>G (p.Leu1028=)
c.891A>G (p.Leu297=)
c.3807A>G (p.Leu1269=)
c.4083A>G (p.Leu1361=)
c.3900A>G (p.Leu1300=)
c.3786A>G (p.Leu1262=)
c.3177A>G (p.Leu1059=)
 ClinVar dbSNP gnomAD v4
2g.47806640A>TCA426122219FBXO11,MSH6c.3693A>T (p.Leu1231=)
c.3606A>T (p.Leu1202=)
n.4664A>T
c.2424A>T (p.Leu808=)
c.3996A>T (p.Leu1332=)
c.1445A>T (n.1445A>T)
c.2763A>T (p.Leu921=)
n.2841A>T
n.5148A>T
n.2585A>T
n.2252A>T
n.2654A>T
n.1399A>T
n.3284A>T
n.4108T>A
n.4370T>A
c.3990A>T (p.Leu1330=)
c.3600A>T (p.Leu1200=)
c.169+1555T>A (n.169+1555T>A)
c.*124+1354T>A (n.*124+1354T>A)
c.*3337A>T (n.*3337A>T)
c.3084A>T (p.Leu1028=)
c.891A>T (p.Leu297=)
c.3807A>T (p.Leu1269=)
c.4083A>T (p.Leu1361=)
c.3900A>T (p.Leu1300=)
c.3786A>T (p.Leu1262=)
c.3177A>T (p.Leu1059=)
 dbSNP
2g.47806641C>ACA426122223FBXO11,MSH6c.3694C>A (p.Arg1232=)
c.3607C>A (p.Arg1203=)
n.4665C>A
c.2425C>A (p.Arg809=)
c.3997C>A (p.Arg1333=)
c.1446C>A (n.1446C>A)
c.2764C>A (p.Arg922=)
n.2842C>A
n.5149C>A
n.2586C>A
n.2253C>A
n.2655C>A
n.1400C>A
n.3285C>A
n.4107G>T
n.4369G>T
c.3991C>A (p.Arg1331=)
c.3601C>A (p.Arg1201=)
c.169+1554G>T (n.169+1554G>T)
c.*124+1353G>T (n.*124+1353G>T)
c.*3338C>A (n.*3338C>A)
c.3085C>A (p.Arg1029=)
c.892C>A (p.Arg298=)
c.3808C>A (p.Arg1270=)
c.4084C>A (p.Arg1362=)
c.3901C>A (p.Arg1301=)
c.3787C>A (p.Arg1263=)
c.3178C>A (p.Arg1060=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.47806641C=CA2496054361FBXO11,MSH6c.3694C= (p.Arg1232=)
c.3607C= (p.Arg1203=)
n.4665C=
c.2425C= (p.Arg809=)
c.3997C= (p.Arg1333=)
c.1446C= (n.1446C=)
c.2764C= (p.Arg922=)
n.2842C=
n.5149C=
n.2586C=
n.2253C=
n.2655C=
n.1400C=
n.3285C=
n.4107G=
n.4369G=
c.3991C= (p.Arg1331=)
c.3601C= (p.Arg1201=)
c.169+1554G= (n.169+1554G=)
c.*124+1353G= (n.*124+1353G=)
c.*3338C= (n.*3338C=)
c.3085C= (p.Arg1029=)
c.892C= (p.Arg298=)
c.3808C= (p.Arg1270=)
c.4084C= (p.Arg1362=)
c.3901C= (p.Arg1301=)
c.3787C= (p.Arg1263=)
c.3178C= (p.Arg1060=)
2g.47806641C>GCA346761593FBXO11,MSH6c.3694C>G (p.Arg1232Gly)
c.3607C>G (p.Arg1203Gly)
n.4665C>G
c.2425C>G (p.Arg809Gly)
c.3997C>G (p.Arg1333Gly)
c.1446C>G (n.1446C>G)
c.2764C>G (p.Arg922Gly)
n.2842C>G
n.5149C>G
n.2586C>G
n.2253C>G
n.2655C>G
n.1400C>G
n.3285C>G
n.4107G>C
n.4369G>C
c.3991C>G (p.Arg1331Gly)
c.3601C>G (p.Arg1201Gly)
c.169+1554G>C (n.169+1554G>C)
c.*124+1353G>C (n.*124+1353G>C)
c.*3338C>G (n.*3338C>G)
c.3085C>G (p.Arg1029Gly)
c.892C>G (p.Arg298Gly)
c.3808C>G (p.Arg1270Gly)
c.4084C>G (p.Arg1362Gly)
c.3901C>G (p.Arg1301Gly)
c.3787C>G (p.Arg1263Gly)
c.3178C>G (p.Arg1060Gly)
 ClinVar dbSNP
2g.47806641C>TCA015060FBXO11,MSH6c.3694C>T (p.Arg1232Ter)
c.3607C>T (p.Arg1203Ter)
n.4665C>T
c.2425C>T (p.Arg809Ter)
c.3997C>T (p.Arg1333Ter)
c.1446C>T (n.1446C>T)
c.2764C>T (p.Arg922Ter)
n.2842C>T
n.5149C>T
n.2586C>T
n.2253C>T
n.2655C>T
n.1400C>T
n.3285C>T
n.4107G>A
n.4369G>A
c.3991C>T (p.Arg1331Ter)
c.3601C>T (p.Arg1201Ter)
c.169+1554G>A (n.169+1554G>A)
c.*124+1353G>A (n.*124+1353G>A)
c.*3338C>T (n.*3338C>T)
c.3085C>T (p.Arg1029Ter)
c.892C>T (p.Arg298Ter)
c.3808C>T (p.Arg1270Ter)
c.4084C>T (p.Arg1362Ter)
c.3901C>T (p.Arg1301Ter)
c.3787C>T (p.Arg1263Ter)
c.3178C>T (p.Arg1060Ter)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.47806642G>ACA16617720FBXO11,MSH6c.3695G>A (p.Arg1232Gln)
c.3608G>A (p.Arg1203Gln)
n.4666G>A
c.2426G>A (p.Arg809Gln)
c.3998G>A (p.Arg1333Gln)
c.1447G>A (n.1447G>A)
c.2765G>A (p.Arg922Gln)
n.2843G>A
n.5150G>A
n.2587G>A
n.2254G>A
n.2656G>A
n.1401G>A
n.3286G>A
n.4106C>T
n.4368C>T
c.3992G>A (p.Arg1331Gln)
c.3602G>A (p.Arg1201Gln)
c.169+1553C>T (n.169+1553C>T)
c.*124+1352C>T (n.*124+1352C>T)
c.*3339G>A (n.*3339G>A)
c.3086G>A (p.Arg1029Gln)
c.893G>A (p.Arg298Gln)
c.3809G>A (p.Arg1270Gln)
c.4085G>A (p.Arg1362Gln)
c.3902G>A (p.Arg1301Gln)
c.3788G>A (p.Arg1263Gln)
c.3179G>A (p.Arg1060Gln)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.47806642G>CCA346761594FBXO11,MSH6c.3695G>C (p.Arg1232Pro)
c.3608G>C (p.Arg1203Pro)
n.4666G>C
c.2426G>C (p.Arg809Pro)
c.3998G>C (p.Arg1333Pro)
c.1447G>C (n.1447G>C)
c.2765G>C (p.Arg922Pro)
n.2843G>C
n.5150G>C
n.2587G>C
n.2254G>C
n.2656G>C
n.1401G>C
n.3286G>C
n.4106C>G
n.4368C>G
c.3992G>C (p.Arg1331Pro)
c.3602G>C (p.Arg1201Pro)
c.169+1553C>G (n.169+1553C>G)
c.*124+1352C>G (n.*124+1352C>G)
c.*3339G>C (n.*3339G>C)
c.3086G>C (p.Arg1029Pro)
c.893G>C (p.Arg298Pro)
c.3809G>C (p.Arg1270Pro)
c.4085G>C (p.Arg1362Pro)
c.3902G>C (p.Arg1301Pro)
c.3788G>C (p.Arg1263Pro)
c.3179G>C (p.Arg1060Pro)
 ClinVar dbSNP
2g.47806642G=CA2496054362FBXO11,MSH6c.3695G= (p.Arg1232=)
c.3608G= (p.Arg1203=)
n.4666G=
c.2426G= (p.Arg809=)
c.3998G= (p.Arg1333=)
c.1447G= (n.1447G=)
c.2765G= (p.Arg922=)
n.2843G=
n.5150G=
n.2587G=
n.2254G=
n.2656G=
n.1401G=
n.3286G=
n.4106C=
n.4368C=
c.3992G= (p.Arg1331=)
c.3602G= (p.Arg1201=)
c.169+1553C= (n.169+1553C=)
c.*124+1352C= (n.*124+1352C=)
c.*3339G= (n.*3339G=)
c.3086G= (p.Arg1029=)
c.893G= (p.Arg298=)
c.3809G= (p.Arg1270=)
c.4085G= (p.Arg1362=)
c.3902G= (p.Arg1301=)
c.3788G= (p.Arg1263=)
c.3179G= (p.Arg1060=)

Number of alleles fetched