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.47806566_47806623dupCA915940370FBXO11,MSH6c.3619_3676dup (p.Lys1226SerfsTer2)
c.3532_3589dup (p.Lys1197SerfsTer2)
n.4590_4647dup
c.2350_2407dup (p.Lys803SerfsTer2)
c.3922_3979dup (p.Lys1327SerfsTer2)
c.1371_1428dup (n.1371_1428dup)
c.2689_2746dup (p.Lys916SerfsTer2)
n.2767_2824dup
n.5074_5131dup
n.2511_2568dup
n.2178_2235dup
n.2580_2637dup
n.1325_1382dup
n.3210_3267dup
n.4125_4182dup
n.4387_4444dup
c.3916_3973dup (p.Lys1325SerfsTer2)
c.3526_3583dup (p.Lys1195SerfsTer2)
c.169+1572_169+1629dup (n.169+1572_169+1629dup)
c.*124+1371_*124+1428dup (n.*124+1371_*124+1428dup)
c.*3263_*3320dup (n.*3263_*3320dup)
c.3010_3067dup (p.Lys1023SerfsTer2)
c.817_874dup (p.Lys292SerfsTer2)
c.3733_3790dup (p.Lys1264SerfsTer2)
c.4009_4066dup (p.Lys1356SerfsTer2)
c.3826_3883dup (p.Lys1295SerfsTer2)
c.3712_3769dup (p.Lys1257SerfsTer2)
c.3103_3160dup (p.Lys1054SerfsTer2)
 ClinVar dbSNP
2g.47806580_47806628dupCA891843284FBXO11,MSH6c.3633_3681dup (p.Asn1228GlyfsTer8)
c.3546_3594dup (p.Asn1199GlyfsTer8)
n.4604_4652dup
c.2364_2412dup (p.Asn805GlyfsTer8)
c.3936_3984dup (p.Asn1329GlyfsTer8)
c.1385_1433dup (n.1385_1433dup)
c.2703_2751dup (p.Asn918GlyfsTer8)
n.2781_2829dup
n.5088_5136dup
n.2525_2573dup
n.2192_2240dup
n.2594_2642dup
n.1339_1387dup
n.3224_3272dup
n.4120_4168dup
n.4382_4430dup
c.3930_3978dup (p.Asn1327GlyfsTer8)
c.3540_3588dup (p.Asn1197GlyfsTer8)
c.169+1567_169+1615dup (n.169+1567_169+1615dup)
c.*124+1366_*124+1414dup (n.*124+1366_*124+1414dup)
c.*3277_*3325dup (n.*3277_*3325dup)
c.3024_3072dup (p.Asn1025GlyfsTer8)
c.831_879dup (p.Asn294GlyfsTer8)
c.3747_3795dup (p.Asn1266GlyfsTer8)
c.4023_4071dup (p.Asn1358GlyfsTer8)
c.3840_3888dup (p.Asn1297GlyfsTer8)
c.3726_3774dup (p.Asn1259GlyfsTer8)
c.3117_3165dup (p.Asn1056GlyfsTer8)
 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.47806600_47806626dupCA1649482FBXO11,MSH6c.3653_3679dup (p.Lys1226_Met1227insAsnArgLysAlaArgGluPheGluLys)
c.3566_3592dup (p.Lys1197_Met1198insAsnArgLysAlaArgGluPheGluLys)
n.4624_4650dup
c.2384_2410dup (p.Lys803_Met804insAsnArgLysAlaArgGluPheGluLys)
c.3956_3982dup (p.Lys1327_Met1328insAsnArgLysAlaArgGluPheGluLys)
c.1405_1431dup (n.1405_1431dup)
c.2723_2749dup (p.Lys916_Met917insAsnArgLysAlaArgGluPheGluLys)
n.2801_2827dup
n.5108_5134dup
n.2545_2571dup
n.2212_2238dup
n.2614_2640dup
n.1359_1385dup
n.3244_3270dup
n.4122_4148dup
n.4384_4410dup
c.3950_3976dup (p.Lys1325_Met1326insAsnArgLysAlaArgGluPheGluLys)
c.3560_3586dup (p.Lys1195_Met1196insAsnArgLysAlaArgGluPheGluLys)
c.169+1569_169+1595dup (n.169+1569_169+1595dup)
c.*124+1368_*124+1394dup (n.*124+1368_*124+1394dup)
c.*3297_*3323dup (n.*3297_*3323dup)
c.3044_3070dup (p.Lys1023_Met1024insAsnArgLysAlaArgGluPheGluLys)
c.851_877dup (p.Lys292_Met293insAsnArgLysAlaArgGluPheGluLys)
c.3767_3793dup (p.Lys1264_Met1265insAsnArgLysAlaArgGluPheGluLys)
c.4043_4069dup (p.Lys1356_Met1357insAsnArgLysAlaArgGluPheGluLys)
c.3860_3886dup (p.Lys1295_Met1296insAsnArgLysAlaArgGluPheGluLys)
c.3746_3772dup (p.Lys1257_Met1258insAsnArgLysAlaArgGluPheGluLys)
c.3137_3163dup (p.Lys1054_Met1055insAsnArgLysAlaArgGluPheGluLys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.47806602_47806627dupCA2573134796FBXO11,MSH6c.3655_3680dup (p.Met1227IlefsTer10)
c.3568_3593dup (p.Met1198IlefsTer10)
n.4626_4651dup
c.2386_2411dup (p.Met804IlefsTer10)
c.3958_3983dup (p.Met1328IlefsTer10)
c.1407_1432dup (n.1407_1432dup)
c.2725_2750dup (p.Met917IlefsTer10)
n.2803_2828dup
n.5110_5135dup
n.2547_2572dup
n.2214_2239dup
n.2616_2641dup
n.1361_1386dup
n.3246_3271dup
n.4123_4148dup
n.4385_4410dup
c.3952_3977dup (p.Met1326IlefsTer10)
c.3562_3587dup (p.Met1196IlefsTer10)
c.169+1570_169+1595dup (n.169+1570_169+1595dup)
c.*124+1369_*124+1394dup (n.*124+1369_*124+1394dup)
c.*3299_*3324dup (n.*3299_*3324dup)
c.3046_3071dup (p.Met1024IlefsTer10)
c.853_878dup (p.Met293IlefsTer10)
c.3769_3794dup (p.Met1265IlefsTer10)
c.4045_4070dup (p.Met1357IlefsTer10)
c.3862_3887dup (p.Met1296IlefsTer10)
c.3748_3773dup (p.Met1258IlefsTer10)
c.3139_3164dup (p.Met1055IlefsTer10)
 ClinVar dbSNP
2g.47806606_47806624dupCA2697548083FBXO11,MSH6c.3659_3677dup (p.Met1227SerfsTer5)
c.3572_3590dup (p.Met1198SerfsTer5)
n.4630_4648dup
c.2390_2408dup (p.Met804SerfsTer5)
c.3962_3980dup (p.Met1328SerfsTer5)
c.1411_1429dup (n.1411_1429dup)
c.2729_2747dup (p.Met917SerfsTer5)
n.2807_2825dup
n.5114_5132dup
n.2551_2569dup
n.2218_2236dup
n.2620_2638dup
n.1365_1383dup
n.3250_3268dup
n.4128_4146dup
n.4390_4408dup
c.3956_3974dup (p.Met1326SerfsTer5)
c.3566_3584dup (p.Met1196SerfsTer5)
c.169+1575_169+1593dup (n.169+1575_169+1593dup)
c.*124+1374_*124+1392dup (n.*124+1374_*124+1392dup)
c.*3303_*3321dup (n.*3303_*3321dup)
c.3050_3068dup (p.Met1024SerfsTer5)
c.857_875dup (p.Met293SerfsTer5)
c.3773_3791dup (p.Met1265SerfsTer5)
c.4049_4067dup (p.Met1357SerfsTer5)
c.3866_3884dup (p.Met1296SerfsTer5)
c.3752_3770dup (p.Met1258SerfsTer5)
c.3143_3161dup (p.Met1055SerfsTer5)
 ClinVar
2g.47806606_47806624delCA891843285FBXO11,MSH6c.3659_3677del (p.Lys1220ArgfsTer2)
c.3572_3590del (p.Lys1191ArgfsTer2)
n.4630_4648del
c.2390_2408del (p.Lys797ArgfsTer2)
c.3962_3980del (p.Lys1321ArgfsTer2)
c.1411_1429del (n.1411_1429del)
c.2729_2747del (p.Lys910ArgfsTer2)
n.2807_2825del
n.5114_5132del
n.2551_2569del
n.2218_2236del
n.2620_2638del
n.1365_1383del
n.3250_3268del
n.4128_4146del
n.4390_4408del
c.3956_3974del (p.Lys1319ArgfsTer2)
c.3566_3584del (p.Lys1189ArgfsTer2)
c.169+1575_169+1593del (n.169+1575_169+1593del)
c.*124+1374_*124+1392del (n.*124+1374_*124+1392del)
c.*3303_*3321del (n.*3303_*3321del)
c.3050_3068del (p.Lys1017ArgfsTer2)
c.857_875del (p.Lys286ArgfsTer2)
c.3773_3791del (p.Lys1258ArgfsTer2)
c.4049_4067del (p.Lys1350ArgfsTer2)
c.3866_3884del (p.Lys1289ArgfsTer2)
c.3752_3770del (p.Lys1251ArgfsTer2)
c.3143_3161del (p.Lys1048ArgfsTer2)
 ClinVar dbSNP
2g.47806603_47806629delinsGAAAAGCAAGAGAATTTGAGAAGATGACA2496054324FBXO11,MSH6c.3656_3682delinsGAAAAGCAAGAGAATTTGAGAAGATGA (p.Arg1219=)
c.3569_3595delinsGAAAAGCAAGAGAATTTGAGAAGATGA (p.Arg1190=)
n.4627_4653delinsGAAAAGCAAGAGAATTTGAGAAGATGA
c.2387_2413delinsGAAAAGCAAGAGAATTTGAGAAGATGA (p.Arg796=)
c.3959_3985delinsGAAAAGCAAGAGAATTTGAGAAGATGA (p.Arg1320=)
c.1408_1434delinsGAAAAGCAAGAGAATTTGAGAAGATGA (n.1408_1434delinsGAAAAGCAAGAGAATTTGAGAAGATGA)
c.2726_2752delinsGAAAAGCAAGAGAATTTGAGAAGATGA (p.Arg909=)
n.2804_2830delinsGAAAAGCAAGAGAATTTGAGAAGATGA
n.5111_5137delinsGAAAAGCAAGAGAATTTGAGAAGATGA
n.2548_2574delinsGAAAAGCAAGAGAATTTGAGAAGATGA
n.2215_2241delinsGAAAAGCAAGAGAATTTGAGAAGATGA
n.2617_2643delinsGAAAAGCAAGAGAATTTGAGAAGATGA
n.1362_1388delinsGAAAAGCAAGAGAATTTGAGAAGATGA
n.3247_3273delinsGAAAAGCAAGAGAATTTGAGAAGATGA
n.4119_4145delinsTCATCTTCTCAAATTCTCTTGCTTTTC
n.4381_4407delinsTCATCTTCTCAAATTCTCTTGCTTTTC
c.3953_3979delinsGAAAAGCAAGAGAATTTGAGAAGATGA (p.Arg1318=)
c.3563_3589delinsGAAAAGCAAGAGAATTTGAGAAGATGA (p.Arg1188=)
c.169+1566_169+1592delinsTCATCTTCTCAAATTCTCTTGCTTTTC (n.169+1566_169+1592delinsTCATCTTCTCAAATTCTCTTGCTTTTC)
c.*124+1365_*124+1391delinsTCATCTTCTCAAATTCTCTTGCTTTTC (n.*124+1365_*124+1391delinsTCATCTTCTCAAATTCTCTTGCTTTTC)
c.*3300_*3326delinsGAAAAGCAAGAGAATTTGAGAAGATGA (n.*3300_*3326delinsGAAAAGCAAGAGAATTTGAGAAGATGA)
c.3047_3073delinsGAAAAGCAAGAGAATTTGAGAAGATGA (p.Arg1016=)
c.854_880delinsGAAAAGCAAGAGAATTTGAGAAGATGA (p.Arg285=)
c.3770_3796delinsGAAAAGCAAGAGAATTTGAGAAGATGA (p.Arg1257=)
c.4046_4072delinsGAAAAGCAAGAGAATTTGAGAAGATGA (p.Arg1349=)
c.3863_3889delinsGAAAAGCAAGAGAATTTGAGAAGATGA (p.Arg1288=)
c.3749_3775delinsGAAAAGCAAGAGAATTTGAGAAGATGA (p.Arg1250=)
c.3140_3166delinsGAAAAGCAAGAGAATTTGAGAAGATGA (p.Arg1047=)
2g.47806605_47806624dupCA2582342382FBXO11,MSH6c.3658_3677dup (p.Met1227LysfsTer8)
c.3571_3590dup (p.Met1198LysfsTer8)
n.4629_4648dup
c.2389_2408dup (p.Met804LysfsTer8)
c.3961_3980dup (p.Met1328LysfsTer8)
c.1410_1429dup (n.1410_1429dup)
c.2728_2747dup (p.Met917LysfsTer8)
n.2806_2825dup
n.5113_5132dup
n.2550_2569dup
n.2217_2236dup
n.2619_2638dup
n.1364_1383dup
n.3249_3268dup
n.4125_4144dup
n.4387_4406dup
c.3955_3974dup (p.Met1326LysfsTer8)
c.3565_3584dup (p.Met1196LysfsTer8)
c.169+1572_169+1591dup (n.169+1572_169+1591dup)
c.*124+1371_*124+1390dup (n.*124+1371_*124+1390dup)
c.*3302_*3321dup (n.*3302_*3321dup)
c.3049_3068dup (p.Met1024LysfsTer8)
c.856_875dup (p.Met293LysfsTer8)
c.3772_3791dup (p.Met1265LysfsTer8)
c.4048_4067dup (p.Met1357LysfsTer8)
c.3865_3884dup (p.Met1296LysfsTer8)
c.3751_3770dup (p.Met1258LysfsTer8)
c.3142_3161dup (p.Met1055LysfsTer8)
 ClinVar
2g.47806605_47806630delCA10578169FBXO11,MSH6c.3658_3683del (p.Lys1220SerfsTer13)
c.3571_3596del (p.Lys1191SerfsTer13)
n.4629_4654del
c.2389_2414del (p.Lys797SerfsTer13)
c.3961_3986del (p.Lys1321SerfsTer13)
c.1410_1435del (n.1410_1435del)
c.2728_2753del (p.Lys910SerfsTer13)
n.2806_2831del
n.5113_5138del
n.2550_2575del
n.2217_2242del
n.2619_2644del
n.1364_1389del
n.3249_3274del
n.4119_4144del
n.4381_4406del
c.3955_3980del (p.Lys1319SerfsTer13)
c.3565_3590del (p.Lys1189SerfsTer13)
c.169+1566_169+1591del (n.169+1566_169+1591del)
c.*124+1365_*124+1390del (n.*124+1365_*124+1390del)
c.*3302_*3327del (n.*3302_*3327del)
c.3049_3074del (p.Lys1017SerfsTer13)
c.856_881del (p.Lys286SerfsTer13)
c.3772_3797del (p.Lys1258SerfsTer13)
c.4048_4073del (p.Lys1350SerfsTer13)
c.3865_3890del (p.Lys1289SerfsTer13)
c.3751_3776del (p.Lys1251SerfsTer13)
c.3142_3167del (p.Lys1048SerfsTer13)
 ClinVar dbSNP
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.47806614_47806630dupCA2499216146FBXO11,MSH6c.3667_3683dup (p.Asn1228LysfsTer6)
c.3580_3596dup (p.Asn1199LysfsTer6)
n.4638_4654dup
c.2398_2414dup (p.Asn805LysfsTer6)
c.3970_3986dup (p.Asn1329LysfsTer6)
c.1419_1435dup (n.1419_1435dup)
c.2737_2753dup (p.Asn918LysfsTer6)
n.2815_2831dup
n.5122_5138dup
n.2559_2575dup
n.2226_2242dup
n.2628_2644dup
n.1373_1389dup
n.3258_3274dup
n.4119_4135dup
n.4381_4397dup
c.3964_3980dup (p.Asn1327LysfsTer6)
c.3574_3590dup (p.Asn1197LysfsTer6)
c.169+1566_169+1582dup (n.169+1566_169+1582dup)
c.*124+1365_*124+1381dup (n.*124+1365_*124+1381dup)
c.*3311_*3327dup (n.*3311_*3327dup)
c.3058_3074dup (p.Asn1025LysfsTer6)
c.865_881dup (p.Asn294LysfsTer6)
c.3781_3797dup (p.Asn1266LysfsTer6)
c.4057_4073dup (p.Asn1358LysfsTer6)
c.3874_3890dup (p.Asn1297LysfsTer6)
c.3760_3776dup (p.Asn1259LysfsTer6)
c.3151_3167dup (p.Asn1056LysfsTer6)
 ClinVar dbSNP
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.47806618_47806626delinsTTGAGAAGACA2496054340FBXO11,MSH6c.3671_3679delinsTTGAGAAGA (p.Phe1224=)
c.3584_3592delinsTTGAGAAGA (p.Phe1195=)
n.4642_4650delinsTTGAGAAGA
c.2402_2410delinsTTGAGAAGA (p.Phe801=)
c.3974_3982delinsTTGAGAAGA (p.Phe1325=)
c.1423_1431delinsTTGAGAAGA (n.1423_1431delinsTTGAGAAGA)
c.2741_2749delinsTTGAGAAGA (p.Phe914=)
n.2819_2827delinsTTGAGAAGA
n.5126_5134delinsTTGAGAAGA
n.2563_2571delinsTTGAGAAGA
n.2230_2238delinsTTGAGAAGA
n.2632_2640delinsTTGAGAAGA
n.1377_1385delinsTTGAGAAGA
n.3262_3270delinsTTGAGAAGA
n.4122_4130delinsTCTTCTCAA
n.4384_4392delinsTCTTCTCAA
c.3968_3976delinsTTGAGAAGA (p.Phe1323=)
c.3578_3586delinsTTGAGAAGA (p.Phe1193=)
c.169+1569_169+1577delinsTCTTCTCAA (n.169+1569_169+1577delinsTCTTCTCAA)
c.*124+1368_*124+1376delinsTCTTCTCAA (n.*124+1368_*124+1376delinsTCTTCTCAA)
c.*3315_*3323delinsTTGAGAAGA (n.*3315_*3323delinsTTGAGAAGA)
c.3062_3070delinsTTGAGAAGA (p.Phe1021=)
c.869_877delinsTTGAGAAGA (p.Phe290=)
c.3785_3793delinsTTGAGAAGA (p.Phe1262=)
c.4061_4069delinsTTGAGAAGA (p.Phe1354=)
c.3878_3886delinsTTGAGAAGA (p.Phe1293=)
c.3764_3772delinsTTGAGAAGA (p.Phe1255=)
c.3155_3163delinsTTGAGAAGA (p.Phe1052=)
2g.47806618_47806629delinsTTGAGAAGATGACA2496054338FBXO11,MSH6c.3671_3682delinsTTGAGAAGATGA (p.Phe1224=)
c.3584_3595delinsTTGAGAAGATGA (p.Phe1195=)
n.4642_4653delinsTTGAGAAGATGA
c.2402_2413delinsTTGAGAAGATGA (p.Phe801=)
c.3974_3985delinsTTGAGAAGATGA (p.Phe1325=)
c.1423_1434delinsTTGAGAAGATGA (n.1423_1434delinsTTGAGAAGATGA)
c.2741_2752delinsTTGAGAAGATGA (p.Phe914=)
n.2819_2830delinsTTGAGAAGATGA
n.5126_5137delinsTTGAGAAGATGA
n.2563_2574delinsTTGAGAAGATGA
n.2230_2241delinsTTGAGAAGATGA
n.2632_2643delinsTTGAGAAGATGA
n.1377_1388delinsTTGAGAAGATGA
n.3262_3273delinsTTGAGAAGATGA
n.4119_4130delinsTCATCTTCTCAA
n.4381_4392delinsTCATCTTCTCAA
c.3968_3979delinsTTGAGAAGATGA (p.Phe1323=)
c.3578_3589delinsTTGAGAAGATGA (p.Phe1193=)
c.169+1566_169+1577delinsTCATCTTCTCAA (n.169+1566_169+1577delinsTCATCTTCTCAA)
c.*124+1365_*124+1376delinsTCATCTTCTCAA (n.*124+1365_*124+1376delinsTCATCTTCTCAA)
c.*3315_*3326delinsTTGAGAAGATGA (n.*3315_*3326delinsTTGAGAAGATGA)
c.3062_3073delinsTTGAGAAGATGA (p.Phe1021=)
c.869_880delinsTTGAGAAGATGA (p.Phe290=)
c.3785_3796delinsTTGAGAAGATGA (p.Phe1262=)
c.4061_4072delinsTTGAGAAGATGA (p.Phe1354=)
c.3878_3889delinsTTGAGAAGATGA (p.Phe1293=)
c.3764_3775delinsTTGAGAAGATGA (p.Phe1255=)
c.3155_3166delinsTTGAGAAGATGA (p.Phe1052=)
2g.47806619_47806629delCA014890FBXO11,MSH6c.3672_3682del (p.Phe1224LeufsTer14)
c.3585_3595del (p.Phe1195LeufsTer14)
n.4643_4653del
c.2403_2413del (p.Phe801LeufsTer14)
c.3975_3985del (p.Phe1325LeufsTer14)
c.1424_1434del (n.1424_1434del)
c.2742_2752del (p.Phe914LeufsTer14)
n.2820_2830del
n.5127_5137del
n.2564_2574del
n.2231_2241del
n.2633_2643del
n.1378_1388del
n.3263_3273del
n.4119_4129del
n.4381_4391del
c.3969_3979del (p.Phe1323LeufsTer14)
c.3579_3589del (p.Phe1193LeufsTer14)
c.169+1566_169+1576del (n.169+1566_169+1576del)
c.*124+1365_*124+1375del (n.*124+1365_*124+1375del)
c.*3316_*3326del (n.*3316_*3326del)
c.3063_3073del (p.Phe1021LeufsTer14)
c.870_880del (p.Phe290LeufsTer14)
c.3786_3796del (p.Phe1262LeufsTer14)
c.4062_4072del (p.Phe1354LeufsTer14)
c.3879_3889del (p.Phe1293LeufsTer14)
c.3765_3775del (p.Phe1255LeufsTer14)
c.3156_3166del (p.Phe1052LeufsTer14)
 ClinVar dbSNP
2g.47806622_47806629delCA915943984FBXO11,MSH6c.3675_3682del (p.Lys1226SerfsTer13)
c.3588_3595del (p.Lys1197SerfsTer13)
n.4646_4653del
c.2406_2413del (p.Lys803SerfsTer13)
c.3978_3985del (p.Lys1327SerfsTer13)
c.1427_1434del (n.1427_1434del)
c.2745_2752del (p.Lys916SerfsTer13)
n.2823_2830del
n.5130_5137del
n.2567_2574del
n.2234_2241del
n.2636_2643del
n.1381_1388del
n.3266_3273del
n.4122_4129del
n.4384_4391del
c.3972_3979del (p.Lys1325SerfsTer13)
c.3582_3589del (p.Lys1195SerfsTer13)
c.169+1569_169+1576del (n.169+1569_169+1576del)
c.*124+1368_*124+1375del (n.*124+1368_*124+1375del)
c.*3319_*3326del (n.*3319_*3326del)
c.3066_3073del (p.Lys1023SerfsTer13)
c.873_880del (p.Lys292SerfsTer13)
c.3789_3796del (p.Lys1264SerfsTer13)
c.4065_4072del (p.Lys1356SerfsTer13)
c.3882_3889del (p.Lys1295SerfsTer13)
c.3768_3775del (p.Lys1257SerfsTer13)
c.3159_3166del (p.Lys1054SerfsTer13)
 ClinVar dbSNP
2g.47806619_47806632dupCA2580067522FBXO11,MSH6c.3672_3685dup (p.Gln1229LeufsTer4)
c.3585_3598dup (p.Gln1200LeufsTer4)
n.4643_4656dup
c.2403_2416dup (p.Gln806LeufsTer4)
c.3975_3988dup (p.Gln1330LeufsTer4)
c.1424_1437dup (n.1424_1437dup)
c.2742_2755dup (p.Gln919LeufsTer4)
n.2820_2833dup
n.5127_5140dup
n.2564_2577dup
n.2231_2244dup
n.2633_2646dup
n.1378_1391dup
n.3263_3276dup
n.4116_4129dup
n.4378_4391dup
c.3969_3982dup (p.Gln1328LeufsTer4)
c.3579_3592dup (p.Gln1198LeufsTer4)
c.169+1563_169+1576dup (n.169+1563_169+1576dup)
c.*124+1362_*124+1375dup (n.*124+1362_*124+1375dup)
c.*3316_*3329dup (n.*3316_*3329dup)
c.3063_3076dup (p.Gln1026LeufsTer4)
c.870_883dup (p.Gln295LeufsTer4)
c.3786_3799dup (p.Gln1267LeufsTer4)
c.4062_4075dup (p.Gln1359LeufsTer4)
c.3879_3892dup (p.Gln1298LeufsTer4)
c.3765_3778dup (p.Gln1260LeufsTer4)
c.3156_3169dup (p.Gln1057LeufsTer4)
 ClinVar gnomAD v4
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.47806620_47806623delinsGAGACA2496054342FBXO11,MSH6c.3673_3676delinsGAGA (p.Glu1225=)
c.3586_3589delinsGAGA (p.Glu1196=)
n.4644_4647delinsGAGA
c.2404_2407delinsGAGA (p.Glu802=)
c.3976_3979delinsGAGA (p.Glu1326=)
c.1425_1428delinsGAGA (n.1425_1428delinsGAGA)
c.2743_2746delinsGAGA (p.Glu915=)
n.2821_2824delinsGAGA
n.5128_5131delinsGAGA
n.2565_2568delinsGAGA
n.2232_2235delinsGAGA
n.2634_2637delinsGAGA
n.1379_1382delinsGAGA
n.3264_3267delinsGAGA
n.4125_4128delinsTCTC
n.4387_4390delinsTCTC
c.3970_3973delinsGAGA (p.Glu1324=)
c.3580_3583delinsGAGA (p.Glu1194=)
c.169+1572_169+1575delinsTCTC (n.169+1572_169+1575delinsTCTC)
c.*124+1371_*124+1374delinsTCTC (n.*124+1371_*124+1374delinsTCTC)
c.*3317_*3320delinsGAGA (n.*3317_*3320delinsGAGA)
c.3064_3067delinsGAGA (p.Glu1022=)
c.871_874delinsGAGA (p.Glu291=)
c.3787_3790delinsGAGA (p.Glu1263=)
c.4063_4066delinsGAGA (p.Glu1355=)
c.3880_3883delinsGAGA (p.Glu1294=)
c.3766_3769delinsGAGA (p.Glu1256=)
c.3157_3160delinsGAGA (p.Glu1053=)
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.47806624_47806626dupCA2580611337FBXO11,MSH6c.3677_3679dup (p.Lys1226_Met1227insLys)
c.3590_3592dup (p.Lys1197_Met1198insLys)
n.4648_4650dup
c.2408_2410dup (p.Lys803_Met804insLys)
c.3980_3982dup (p.Lys1327_Met1328insLys)
c.1429_1431dup (n.1429_1431dup)
c.2747_2749dup (p.Lys916_Met917insLys)
n.2825_2827dup
n.5132_5134dup
n.2569_2571dup
n.2236_2238dup
n.2638_2640dup
n.1383_1385dup
n.3268_3270dup
n.4125_4127dup
n.4387_4389dup
c.3974_3976dup (p.Lys1325_Met1326insLys)
c.3584_3586dup (p.Lys1195_Met1196insLys)
c.169+1572_169+1574dup (n.169+1572_169+1574dup)
c.*124+1371_*124+1373dup (n.*124+1371_*124+1373dup)
c.*3321_*3323dup (n.*3321_*3323dup)
c.3068_3070dup (p.Lys1023_Met1024insLys)
c.875_877dup (p.Lys292_Met293insLys)
c.3791_3793dup (p.Lys1264_Met1265insLys)
c.4067_4069dup (p.Lys1356_Met1357insLys)
c.3884_3886dup (p.Lys1295_Met1296insLys)
c.3770_3772dup (p.Lys1257_Met1258insLys)
c.3161_3163dup (p.Lys1054_Met1055insLys)
 ClinVar
2g.47806624_47806626delCA014946FBXO11,MSH6c.3677_3679del (p.Lys1226del)
c.3590_3592del (p.Lys1197del)
n.4648_4650del
c.2408_2410del (p.Lys803del)
c.3980_3982del (p.Lys1327del)
c.1429_1431del (n.1429_1431del)
c.2747_2749del (p.Lys916del)
n.2825_2827del
n.5132_5134del
n.2569_2571del
n.2236_2238del
n.2638_2640del
n.1383_1385del
n.3268_3270del
n.4125_4127del
n.4387_4389del
c.3974_3976del (p.Lys1325del)
c.3584_3586del (p.Lys1195del)
c.169+1572_169+1574del (n.169+1572_169+1574del)
c.*124+1371_*124+1373del (n.*124+1371_*124+1373del)
c.*3321_*3323del (n.*3321_*3323del)
c.3068_3070del (p.Lys1023del)
c.875_877del (p.Lys292del)
c.3791_3793del (p.Lys1264del)
c.4067_4069del (p.Lys1356del)
c.3884_3886del (p.Lys1295del)
c.3770_3772del (p.Lys1257del)
c.3161_3163del (p.Lys1054del)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.47806621_47806633dupCA2695200532FBXO11,MSH6c.3674_3686dup (p.Ser1230GlufsTer16)
c.3587_3599dup (p.Ser1201GlufsTer16)
n.4645_4657dup
c.2405_2417dup (p.Ser807GlufsTer16)
c.3977_3989dup (p.Ser1331GlufsTer16)
c.1426_1438dup (n.1426_1438dup)
c.2744_2756dup (p.Ser920GlufsTer16)
n.2822_2834dup
n.5129_5141dup
n.2566_2578dup
n.2233_2245dup
n.2635_2647dup
n.1380_1392dup
n.3265_3277dup
n.4115_4127dup
n.4377_4389dup
c.3971_3983dup (p.Ser1329GlufsTer16)
c.3581_3593dup (p.Ser1199GlufsTer16)
c.169+1562_169+1574dup (n.169+1562_169+1574dup)
c.*124+1361_*124+1373dup (n.*124+1361_*124+1373dup)
c.*3318_*3330dup (n.*3318_*3330dup)
c.3065_3077dup (p.Ser1027GlufsTer16)
c.872_884dup (p.Ser296GlufsTer16)
c.3788_3800dup (p.Ser1268GlufsTer16)
c.4064_4076dup (p.Ser1360GlufsTer16)
c.3881_3893dup (p.Ser1299GlufsTer16)
c.3767_3779dup (p.Ser1261GlufsTer16)
c.3158_3170dup (p.Ser1058GlufsTer16)
 ClinVar
2g.47806623A=CA2496054346FBXO11,MSH6c.3676A= (p.Lys1226=)
c.3589A= (p.Lys1197=)
n.4647A=
c.2407A= (p.Lys803=)
c.3979A= (p.Lys1327=)
c.1428A= (n.1428A=)
c.2746A= (p.Lys916=)
n.2824A=
n.5131A=
n.2568A=
n.2235A=
n.2637A=
n.1382A=
n.3267A=
n.4125T=
n.4387T=
c.3973A= (p.Lys1325=)
c.3583A= (p.Lys1195=)
c.169+1572T= (n.169+1572T=)
c.*124+1371T= (n.*124+1371T=)
c.*3320A= (n.*3320A=)
c.3067A= (p.Lys1023=)
c.874A= (p.Lys292=)
c.3790A= (p.Lys1264=)
c.4066A= (p.Lys1356=)
c.3883A= (p.Lys1295=)
c.3769A= (p.Lys1257=)
c.3160A= (p.Lys1054=)
2g.47806623A>CCA346761565FBXO11,MSH6c.3676A>C (p.Lys1226Gln)
c.3589A>C (p.Lys1197Gln)
n.4647A>C
c.2407A>C (p.Lys803Gln)
c.3979A>C (p.Lys1327Gln)
c.1428A>C (n.1428A>C)
c.2746A>C (p.Lys916Gln)
n.2824A>C
n.5131A>C
n.2568A>C
n.2235A>C
n.2637A>C
n.1382A>C
n.3267A>C
n.4125T>G
n.4387T>G
c.3973A>C (p.Lys1325Gln)
c.3583A>C (p.Lys1195Gln)
c.169+1572T>G (n.169+1572T>G)
c.*124+1371T>G (n.*124+1371T>G)
c.*3320A>C (n.*3320A>C)
c.3067A>C (p.Lys1023Gln)
c.874A>C (p.Lys292Gln)
c.3790A>C (p.Lys1264Gln)
c.4066A>C (p.Lys1356Gln)
c.3883A>C (p.Lys1295Gln)
c.3769A>C (p.Lys1257Gln)
c.3160A>C (p.Lys1054Gln)
2g.47806623A>GCA346761566FBXO11,MSH6c.3676A>G (p.Lys1226Glu)
c.3589A>G (p.Lys1197Glu)
n.4647A>G
c.2407A>G (p.Lys803Glu)
c.3979A>G (p.Lys1327Glu)
c.1428A>G (n.1428A>G)
c.2746A>G (p.Lys916Glu)
n.2824A>G
n.5131A>G
n.2568A>G
n.2235A>G
n.2637A>G
n.1382A>G
n.3267A>G
n.4125T>C
n.4387T>C
c.3973A>G (p.Lys1325Glu)
c.3583A>G (p.Lys1195Glu)
c.169+1572T>C (n.169+1572T>C)
c.*124+1371T>C (n.*124+1371T>C)
c.*3320A>G (n.*3320A>G)
c.3067A>G (p.Lys1023Glu)
c.874A>G (p.Lys292Glu)
c.3790A>G (p.Lys1264Glu)
c.4066A>G (p.Lys1356Glu)
c.3883A>G (p.Lys1295Glu)
c.3769A>G (p.Lys1257Glu)
c.3160A>G (p.Lys1054Glu)
 dbSNP
2g.47806623A>TCA16610965FBXO11,MSH6c.3676A>T (p.Lys1226Ter)
c.3589A>T (p.Lys1197Ter)
n.4647A>T
c.2407A>T (p.Lys803Ter)
c.3979A>T (p.Lys1327Ter)
c.1428A>T (n.1428A>T)
c.2746A>T (p.Lys916Ter)
n.2824A>T
n.5131A>T
n.2568A>T
n.2235A>T
n.2637A>T
n.1382A>T
n.3267A>T
n.4125T>A
n.4387T>A
c.3973A>T (p.Lys1325Ter)
c.3583A>T (p.Lys1195Ter)
c.169+1572T>A (n.169+1572T>A)
c.*124+1371T>A (n.*124+1371T>A)
c.*3320A>T (n.*3320A>T)
c.3067A>T (p.Lys1023Ter)
c.874A>T (p.Lys292Ter)
c.3790A>T (p.Lys1264Ter)
c.4066A>T (p.Lys1356Ter)
c.3883A>T (p.Lys1295Ter)
c.3769A>T (p.Lys1257Ter)
c.3160A>T (p.Lys1054Ter)
 ClinVar dbSNP
2g.47806624_47806633dupCA2586964933FBXO11,MSH6c.3677_3686dup (p.Ser1230AspfsTer15)
c.3590_3599dup (p.Ser1201AspfsTer15)
n.4648_4657dup
c.2408_2417dup (p.Ser807AspfsTer15)
c.3980_3989dup (p.Ser1331AspfsTer15)
c.1429_1438dup (n.1429_1438dup)
c.2747_2756dup (p.Ser920AspfsTer15)
n.2825_2834dup
n.5132_5141dup
n.2569_2578dup
n.2236_2245dup
n.2638_2647dup
n.1383_1392dup
n.3268_3277dup
n.4116_4125dup
n.4378_4387dup
c.3974_3983dup (p.Ser1329AspfsTer15)
c.3584_3593dup (p.Ser1199AspfsTer15)
c.169+1563_169+1572dup (n.169+1563_169+1572dup)
c.*124+1362_*124+1371dup (n.*124+1362_*124+1371dup)
c.*3321_*3330dup (n.*3321_*3330dup)
c.3068_3077dup (p.Ser1027AspfsTer15)
c.875_884dup (p.Ser296AspfsTer15)
c.3791_3800dup (p.Ser1268AspfsTer15)
c.4067_4076dup (p.Ser1360AspfsTer15)
c.3884_3893dup (p.Ser1299AspfsTer15)
c.3770_3779dup (p.Ser1261AspfsTer15)
c.3161_3170dup (p.Ser1058AspfsTer15)
2g.47806624A=CA2496054347FBXO11,MSH6c.3677A= (p.Lys1226=)
c.3590A= (p.Lys1197=)
n.4648A=
c.2408A= (p.Lys803=)
c.3980A= (p.Lys1327=)
c.1429A= (n.1429A=)
c.2747A= (p.Lys916=)
n.2825A=
n.5132A=
n.2569A=
n.2236A=
n.2638A=
n.1383A=
n.3268A=
n.4124T=
n.4386T=
c.3974A= (p.Lys1325=)
c.3584A= (p.Lys1195=)
c.169+1571T= (n.169+1571T=)
c.*124+1370T= (n.*124+1370T=)
c.*3321A= (n.*3321A=)
c.3068A= (p.Lys1023=)
c.875A= (p.Lys292=)
c.3791A= (p.Lys1264=)
c.4067A= (p.Lys1356=)
c.3884A= (p.Lys1295=)
c.3770A= (p.Lys1257=)
c.3161A= (p.Lys1054=)
2g.47806624A>CCA346761567FBXO11,MSH6c.3677A>C (p.Lys1226Thr)
c.3590A>C (p.Lys1197Thr)
n.4648A>C
c.2408A>C (p.Lys803Thr)
c.3980A>C (p.Lys1327Thr)
c.1429A>C (n.1429A>C)
c.2747A>C (p.Lys916Thr)
n.2825A>C
n.5132A>C
n.2569A>C
n.2236A>C
n.2638A>C
n.1383A>C
n.3268A>C
n.4124T>G
n.4386T>G
c.3974A>C (p.Lys1325Thr)
c.3584A>C (p.Lys1195Thr)
c.169+1571T>G (n.169+1571T>G)
c.*124+1370T>G (n.*124+1370T>G)
c.*3321A>C (n.*3321A>C)
c.3068A>C (p.Lys1023Thr)
c.875A>C (p.Lys292Thr)
c.3791A>C (p.Lys1264Thr)
c.4067A>C (p.Lys1356Thr)
c.3884A>C (p.Lys1295Thr)
c.3770A>C (p.Lys1257Thr)
c.3161A>C (p.Lys1054Thr)
 ClinVar dbSNP gnomAD v4
2g.47806624A>GCA10578171FBXO11,MSH6c.3677A>G (p.Lys1226Arg)
c.3590A>G (p.Lys1197Arg)
n.4648A>G
c.2408A>G (p.Lys803Arg)
c.3980A>G (p.Lys1327Arg)
c.1429A>G (n.1429A>G)
c.2747A>G (p.Lys916Arg)
n.2825A>G
n.5132A>G
n.2569A>G
n.2236A>G
n.2638A>G
n.1383A>G
n.3268A>G
n.4124T>C
n.4386T>C
c.3974A>G (p.Lys1325Arg)
c.3584A>G (p.Lys1195Arg)
c.169+1571T>C (n.169+1571T>C)
c.*124+1370T>C (n.*124+1370T>C)
c.*3321A>G (n.*3321A>G)
c.3068A>G (p.Lys1023Arg)
c.875A>G (p.Lys292Arg)
c.3791A>G (p.Lys1264Arg)
c.4067A>G (p.Lys1356Arg)
c.3884A>G (p.Lys1295Arg)
c.3770A>G (p.Lys1257Arg)
c.3161A>G (p.Lys1054Arg)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.47806624A>TCA10578172FBXO11,MSH6c.3677A>T (p.Lys1226Met)
c.3590A>T (p.Lys1197Met)
n.4648A>T
c.2408A>T (p.Lys803Met)
c.3980A>T (p.Lys1327Met)
c.1429A>T (n.1429A>T)
c.2747A>T (p.Lys916Met)
n.2825A>T
n.5132A>T
n.2569A>T
n.2236A>T
n.2638A>T
n.1383A>T
n.3268A>T
n.4124T>A
n.4386T>A
c.3974A>T (p.Lys1325Met)
c.3584A>T (p.Lys1195Met)
c.169+1571T>A (n.169+1571T>A)
c.*124+1370T>A (n.*124+1370T>A)
c.*3321A>T (n.*3321A>T)
c.3068A>T (p.Lys1023Met)
c.875A>T (p.Lys292Met)
c.3791A>T (p.Lys1264Met)
c.4067A>T (p.Lys1356Met)
c.3884A>T (p.Lys1295Met)
c.3770A>T (p.Lys1257Met)
c.3161A>T (p.Lys1054Met)
 ClinVar dbSNP gnomAD v4
2g.47806625G>ACA426122200FBXO11,MSH6c.3678G>A (p.Lys1226=)
c.3591G>A (p.Lys1197=)
n.4649G>A
c.2409G>A (p.Lys803=)
c.3981G>A (p.Lys1327=)
c.1430G>A (n.1430G>A)
c.2748G>A (p.Lys916=)
n.2826G>A
n.5133G>A
n.2570G>A
n.2237G>A
n.2639G>A
n.1384G>A
n.3269G>A
n.4123C>T
n.4385C>T
c.3975G>A (p.Lys1325=)
c.3585G>A (p.Lys1195=)
c.169+1570C>T (n.169+1570C>T)
c.*124+1369C>T (n.*124+1369C>T)
c.*3322G>A (n.*3322G>A)
c.3069G>A (p.Lys1023=)
c.876G>A (p.Lys292=)
c.3792G>A (p.Lys1264=)
c.4068G>A (p.Lys1356=)
c.3885G>A (p.Lys1295=)
c.3771G>A (p.Lys1257=)
c.3162G>A (p.Lys1054=)
 dbSNP
2g.47806625G>CCA346761568FBXO11,MSH6c.3678G>C (p.Lys1226Asn)
c.3591G>C (p.Lys1197Asn)
n.4649G>C
c.2409G>C (p.Lys803Asn)
c.3981G>C (p.Lys1327Asn)
c.1430G>C (n.1430G>C)
c.2748G>C (p.Lys916Asn)
n.2826G>C
n.5133G>C
n.2570G>C
n.2237G>C
n.2639G>C
n.1384G>C
n.3269G>C
n.4123C>G
n.4385C>G
c.3975G>C (p.Lys1325Asn)
c.3585G>C (p.Lys1195Asn)
c.169+1570C>G (n.169+1570C>G)
c.*124+1369C>G (n.*124+1369C>G)
c.*3322G>C (n.*3322G>C)
c.3069G>C (p.Lys1023Asn)
c.876G>C (p.Lys292Asn)
c.3792G>C (p.Lys1264Asn)
c.4068G>C (p.Lys1356Asn)
c.3885G>C (p.Lys1295Asn)
c.3771G>C (p.Lys1257Asn)
c.3162G>C (p.Lys1054Asn)
 ClinVar dbSNP gnomAD v4
2g.47806625G=CA2496054348FBXO11,MSH6c.3678G= (p.Lys1226=)
c.3591G= (p.Lys1197=)
n.4649G=
c.2409G= (p.Lys803=)
c.3981G= (p.Lys1327=)
c.1430G= (n.1430G=)
c.2748G= (p.Lys916=)
n.2826G=
n.5133G=
n.2570G=
n.2237G=
n.2639G=
n.1384G=
n.3269G=
n.4123C=
n.4385C=
c.3975G= (p.Lys1325=)
c.3585G= (p.Lys1195=)
c.169+1570C= (n.169+1570C=)
c.*124+1369C= (n.*124+1369C=)
c.*3322G= (n.*3322G=)
c.3069G= (p.Lys1023=)
c.876G= (p.Lys292=)
c.3792G= (p.Lys1264=)
c.4068G= (p.Lys1356=)
c.3885G= (p.Lys1295=)
c.3771G= (p.Lys1257=)
c.3162G= (p.Lys1054=)
2g.47806625G>TCA346761569FBXO11,MSH6c.3678G>T (p.Lys1226Asn)
c.3591G>T (p.Lys1197Asn)
n.4649G>T
c.2409G>T (p.Lys803Asn)
c.3981G>T (p.Lys1327Asn)
c.1430G>T (n.1430G>T)
c.2748G>T (p.Lys916Asn)
n.2826G>T
n.5133G>T
n.2570G>T
n.2237G>T
n.2639G>T
n.1384G>T
n.3269G>T
n.4123C>A
n.4385C>A
c.3975G>T (p.Lys1325Asn)
c.3585G>T (p.Lys1195Asn)
c.169+1570C>A (n.169+1570C>A)
c.*124+1369C>A (n.*124+1369C>A)
c.*3322G>T (n.*3322G>T)
c.3069G>T (p.Lys1023Asn)
c.876G>T (p.Lys292Asn)
c.3792G>T (p.Lys1264Asn)
c.4068G>T (p.Lys1356Asn)
c.3885G>T (p.Lys1295Asn)
c.3771G>T (p.Lys1257Asn)
c.3162G>T (p.Lys1054Asn)
 gnomAD v4
2g.47806627_47806629dupCA1139656986FBXO11,MSH6c.3680_3682dup (p.Met1227_Asn1228insMet)
c.3593_3595dup (p.Met1198_Asn1199insMet)
n.4651_4653dup
c.2411_2413dup (p.Met804_Asn805insMet)
c.3983_3985dup (p.Met1328_Asn1329insMet)
c.1432_1434dup (n.1432_1434dup)
c.2750_2752dup (p.Met917_Asn918insMet)
n.2828_2830dup
n.5135_5137dup
n.2572_2574dup
n.2239_2241dup
n.2641_2643dup
n.1386_1388dup
n.3271_3273dup
n.4121_4123dup
n.4383_4385dup
c.3977_3979dup (p.Met1326_Asn1327insMet)
c.3587_3589dup (p.Met1196_Asn1197insMet)
c.169+1568_169+1570dup (n.169+1568_169+1570dup)
c.*124+1367_*124+1369dup (n.*124+1367_*124+1369dup)
c.*3324_*3326dup (n.*3324_*3326dup)
c.3071_3073dup (p.Met1024_Asn1025insMet)
c.878_880dup (p.Met293_Asn294insMet)
c.3794_3796dup (p.Met1265_Asn1266insMet)
c.4070_4072dup (p.Met1357_Asn1358insMet)
c.3887_3889dup (p.Met1296_Asn1297insMet)
c.3773_3775dup (p.Met1258_Asn1259insMet)
c.3164_3166dup (p.Met1055_Asn1056insMet)
 ClinVar dbSNP
2g.47806626A=CA2496054349FBXO11,MSH6c.3679A= (p.Met1227=)
c.3592A= (p.Met1198=)
n.4650A=
c.2410A= (p.Met804=)
c.3982A= (p.Met1328=)
c.1431A= (n.1431A=)
c.2749A= (p.Met917=)
n.2827A=
n.5134A=
n.2571A=
n.2238A=
n.2640A=
n.1385A=
n.3270A=
n.4122T=
n.4384T=
c.3976A= (p.Met1326=)
c.3586A= (p.Met1196=)
c.169+1569T= (n.169+1569T=)
c.*124+1368T= (n.*124+1368T=)
c.*3323A= (n.*3323A=)
c.3070A= (p.Met1024=)
c.877A= (p.Met293=)
c.3793A= (p.Met1265=)
c.4069A= (p.Met1357=)
c.3886A= (p.Met1296=)
c.3772A= (p.Met1258=)
c.3163A= (p.Met1055=)
2g.47806626A>CCA014964FBXO11,MSH6c.3679A>C (p.Met1227Leu)
c.3592A>C (p.Met1198Leu)
n.4650A>C
c.2410A>C (p.Met804Leu)
c.3982A>C (p.Met1328Leu)
c.1431A>C (n.1431A>C)
c.2749A>C (p.Met917Leu)
n.2827A>C
n.5134A>C
n.2571A>C
n.2238A>C
n.2640A>C
n.1385A>C
n.3270A>C
n.4122T>G
n.4384T>G
c.3976A>C (p.Met1326Leu)
c.3586A>C (p.Met1196Leu)
c.169+1569T>G (n.169+1569T>G)
c.*124+1368T>G (n.*124+1368T>G)
c.*3323A>C (n.*3323A>C)
c.3070A>C (p.Met1024Leu)
c.877A>C (p.Met293Leu)
c.3793A>C (p.Met1265Leu)
c.4069A>C (p.Met1357Leu)
c.3886A>C (p.Met1296Leu)
c.3772A>C (p.Met1258Leu)
c.3163A>C (p.Met1055Leu)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.47806626A>GCA346761570FBXO11,MSH6c.3679A>G (p.Met1227Val)
c.3592A>G (p.Met1198Val)
n.4650A>G
c.2410A>G (p.Met804Val)
c.3982A>G (p.Met1328Val)
c.1431A>G (n.1431A>G)
c.2749A>G (p.Met917Val)
n.2827A>G
n.5134A>G
n.2571A>G
n.2238A>G
n.2640A>G
n.1385A>G
n.3270A>G
n.4122T>C
n.4384T>C
c.3976A>G (p.Met1326Val)
c.3586A>G (p.Met1196Val)
c.169+1569T>C (n.169+1569T>C)
c.*124+1368T>C (n.*124+1368T>C)
c.*3323A>G (n.*3323A>G)
c.3070A>G (p.Met1024Val)
c.877A>G (p.Met293Val)
c.3793A>G (p.Met1265Val)
c.4069A>G (p.Met1357Val)
c.3886A>G (p.Met1296Val)
c.3772A>G (p.Met1258Val)
c.3163A>G (p.Met1055Val)
2g.47806626A>TCA014973FBXO11,MSH6c.3679A>T (p.Met1227Leu)
c.3592A>T (p.Met1198Leu)
n.4650A>T
c.2410A>T (p.Met804Leu)
c.3982A>T (p.Met1328Leu)
c.1431A>T (n.1431A>T)
c.2749A>T (p.Met917Leu)
n.2827A>T
n.5134A>T
n.2571A>T
n.2238A>T
n.2640A>T
n.1385A>T
n.3270A>T
n.4122T>A
n.4384T>A
c.3976A>T (p.Met1326Leu)
c.3586A>T (p.Met1196Leu)
c.169+1569T>A (n.169+1569T>A)
c.*124+1368T>A (n.*124+1368T>A)
c.*3323A>T (n.*3323A>T)
c.3070A>T (p.Met1024Leu)
c.877A>T (p.Met293Leu)
c.3793A>T (p.Met1265Leu)
c.4069A>T (p.Met1357Leu)
c.3886A>T (p.Met1296Leu)
c.3772A>T (p.Met1258Leu)
c.3163A>T (p.Met1055Leu)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.47806627T>ACA346761571FBXO11,MSH6c.3680T>A (p.Met1227Lys)
c.3593T>A (p.Met1198Lys)
n.4651T>A
c.2411T>A (p.Met804Lys)
c.3983T>A (p.Met1328Lys)
c.1432T>A (n.1432T>A)
c.2750T>A (p.Met917Lys)
n.2828T>A
n.5135T>A
n.2572T>A
n.2239T>A
n.2641T>A
n.1386T>A
n.3271T>A
n.4121A>T
n.4383A>T
c.3977T>A (p.Met1326Lys)
c.3587T>A (p.Met1196Lys)
c.169+1568A>T (n.169+1568A>T)
c.*124+1367A>T (n.*124+1367A>T)
c.*3324T>A (n.*3324T>A)
c.3071T>A (p.Met1024Lys)
c.878T>A (p.Met293Lys)
c.3794T>A (p.Met1265Lys)
c.4070T>A (p.Met1357Lys)
c.3887T>A (p.Met1296Lys)
c.3773T>A (p.Met1258Lys)
c.3164T>A (p.Met1055Lys)
 dbSNP gnomAD v4
2g.47806627T>CCA072409FBXO11,MSH6c.3680T>C (p.Met1227Thr)
c.3593T>C (p.Met1198Thr)
n.4651T>C
c.2411T>C (p.Met804Thr)
c.3983T>C (p.Met1328Thr)
c.1432T>C (n.1432T>C)
c.2750T>C (p.Met917Thr)
n.2828T>C
n.5135T>C
n.2572T>C
n.2239T>C
n.2641T>C
n.1386T>C
n.3271T>C
n.4121A>G
n.4383A>G
c.3977T>C (p.Met1326Thr)
c.3587T>C (p.Met1196Thr)
c.169+1568A>G (n.169+1568A>G)
c.*124+1367A>G (n.*124+1367A>G)
c.*3324T>C (n.*3324T>C)
c.3071T>C (p.Met1024Thr)
c.878T>C (p.Met293Thr)
c.3794T>C (p.Met1265Thr)
c.4070T>C (p.Met1357Thr)
c.3887T>C (p.Met1296Thr)
c.3773T>C (p.Met1258Thr)
c.3164T>C (p.Met1055Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched