UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.47803431_47807699del | CA1139656956 | FBXO11,MSH6 | c.2887_*839del c.3184_*839del c.169+498_169+4766del (n.169+498_169+4766del) c.*124+297_*124+4565del (n.*124+297_*124+4565del) | ClinVar |
| 2 | g.47806202_47806641del | CA2499216121 | FBXO11,MSH6 | c.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 |
| 2 | g.47806492_47806527dup | CA1139656980 | FBXO11,MSH6 | c.3545_3580dup (p.Gly1193_Ala1194insGluThrIleThrPheLeuTyrLysPheIleLysGly) c.3458_3493dup (p.Gly1164_Ala1165insGluThrIleThrPheLeuTyrLysPheIleLysGly) n.4516_4551dup c.2276_2311dup (p.Gly770_Ala771insGluThrIleThrPheLeuTyrLysPheIleLysGly) c.3848_3883dup (p.Gly1294_Ala1295insGluThrIleThrPheLeuTyrLysPheIleLysGly) c.1297_1332dup (n.1297_1332dup) c.2615_2650dup (p.Gly883_Ala884insGluThrIleThrPheLeuTyrLysPheIleLysGly) n.2693_2728dup n.5000_5035dup n.2437_2472dup n.2104_2139dup n.2506_2541dup n.1251_1286dup n.3136_3171dup n.4222_4257dup n.4484_4519dup c.3842_3877dup (p.Gly1292_Ala1293insGluThrIleThrPheLeuTyrLysPheIleLysGly) c.3452_3487dup (p.Gly1162_Ala1163insGluThrIleThrPheLeuTyrLysPheIleLysGly) c.169+1669_169+1704dup (n.169+1669_169+1704dup) c.*124+1468_*124+1503dup (n.*124+1468_*124+1503dup) c.*3189_*3224dup (n.*3189_*3224dup) c.2936_2971dup (p.Gly990_Ala991insGluThrIleThrPheLeuTyrLysPheIleLysGly) c.743_778dup (p.Gly259_Ala260insGluThrIleThrPheLeuTyrLysPheIleLysGly) c.3659_3694dup (p.Gly1231_Ala1232insGluThrIleThrPheLeuTyrLysPheIleLysGly) c.3935_3970dup (p.Gly1323_Ala1324insGluThrIleThrPheLeuTyrLysPheIleLysGly) c.3752_3787dup (p.Gly1262_Ala1263insGluThrIleThrPheLeuTyrLysPheIleLysGly) c.3638_3673dup (p.Gly1224_Ala1225insGluThrIleThrPheLeuTyrLysPheIleLysGly) c.3029_3064dup (p.Gly1021_Ala1022insGluThrIleThrPheLeuTyrLysPheIleLysGly) | ClinVar dbSNP |
| 2 | g.47806510_47806532dup | CA2697548080 | FBXO11,MSH6 | c.3563_3585dup (p.Pro1196IlefsTer?) c.3476_3498dup (p.Pro1167IlefsTer?) n.4534_4556dup c.2294_2316dup (p.Pro773IlefsTer?) c.3866_3888dup (p.Pro1297IlefsTer?) c.1315_1337dup (n.1315_1337dup) c.2633_2655dup (p.Pro886IlefsTer?) n.2711_2733dup n.5018_5040dup n.2455_2477dup n.2122_2144dup n.2524_2546dup n.1269_1291dup n.3154_3176dup n.4217_4239dup n.4479_4501dup c.3860_3882dup (p.Pro1295IlefsTer?) c.3470_3492dup (p.Pro1165IlefsTer?) c.169+1664_169+1686dup (n.169+1664_169+1686dup) c.*124+1463_*124+1485dup (n.*124+1463_*124+1485dup) c.*3207_*3229dup (n.*3207_*3229dup) c.2954_2976dup (p.Pro993IlefsTer?) c.761_783dup (p.Pro262IlefsTer?) c.3677_3699dup (p.Pro1234IlefsTer?) c.3953_3975dup (p.Pro1326IlefsTer?) c.3770_3792dup (p.Pro1265IlefsTer?) c.3656_3678dup (p.Pro1227IlefsTer?) c.3047_3069dup (p.Pro1024IlefsTer?) | ClinVar |
| 2 | g.47806510_47806534delinsATAAATTCATTAAGGGAGCTTGTCC | CA2496054185 | FBXO11,MSH6 | c.3563_3587delinsATAAATTCATTAAGGGAGCTTGTCC (p.Tyr1188=) c.3476_3500delinsATAAATTCATTAAGGGAGCTTGTCC (p.Tyr1159=) n.4534_4558delinsATAAATTCATTAAGGGAGCTTGTCC c.2294_2318delinsATAAATTCATTAAGGGAGCTTGTCC (p.Tyr765=) c.3866_3890delinsATAAATTCATTAAGGGAGCTTGTCC (p.Tyr1289=) c.1315_1339delinsATAAATTCATTAAGGGAGCTTGTCC (n.1315_1339delinsATAAATTCATTAAGGGAGCTTGTCC) c.2633_2657delinsATAAATTCATTAAGGGAGCTTGTCC (p.Tyr878=) n.2711_2735delinsATAAATTCATTAAGGGAGCTTGTCC n.5018_5042delinsATAAATTCATTAAGGGAGCTTGTCC n.2455_2479delinsATAAATTCATTAAGGGAGCTTGTCC n.2122_2146delinsATAAATTCATTAAGGGAGCTTGTCC n.2524_2548delinsATAAATTCATTAAGGGAGCTTGTCC n.1269_1293delinsATAAATTCATTAAGGGAGCTTGTCC n.3154_3178delinsATAAATTCATTAAGGGAGCTTGTCC n.4214_4238delinsGGACAAGCTCCCTTAATGAATTTAT n.4476_4500delinsGGACAAGCTCCCTTAATGAATTTAT c.3860_3884delinsATAAATTCATTAAGGGAGCTTGTCC (p.Tyr1287=) c.3470_3494delinsATAAATTCATTAAGGGAGCTTGTCC (p.Tyr1157=) c.169+1661_169+1685delinsGGACAAGCTCCCTTAATGAATTTAT (n.169+1661_169+1685delinsGGACAAGCTCCCTTAATGAATTTAT) c.*124+1460_*124+1484delinsGGACAAGCTCCCTTAATGAATTTAT (n.*124+1460_*124+1484delinsGGACAAGCTCCCTTAATGAATTTAT) c.*3207_*3231delinsATAAATTCATTAAGGGAGCTTGTCC (n.*3207_*3231delinsATAAATTCATTAAGGGAGCTTGTCC) c.2954_2978delinsATAAATTCATTAAGGGAGCTTGTCC (p.Tyr985=) c.761_785delinsATAAATTCATTAAGGGAGCTTGTCC (p.Tyr254=) c.3677_3701delinsATAAATTCATTAAGGGAGCTTGTCC (p.Tyr1226=) c.3953_3977delinsATAAATTCATTAAGGGAGCTTGTCC (p.Tyr1318=) c.3770_3794delinsATAAATTCATTAAGGGAGCTTGTCC (p.Tyr1257=) c.3656_3680delinsATAAATTCATTAAGGGAGCTTGTCC (p.Tyr1219=) c.3047_3071delinsATAAATTCATTAAGGGAGCTTGTCC (p.Tyr1016=) | |
| 2 | g.47806512_47806532dup | CA1030296775 | FBXO11,MSH6 | c.3565_3585dup (p.Cys1195_Pro1196insLysPheIleLysGlyAlaCys) c.3478_3498dup (p.Cys1166_Pro1167insLysPheIleLysGlyAlaCys) n.4536_4556dup c.2296_2316dup (p.Cys772_Pro773insLysPheIleLysGlyAlaCys) c.3868_3888dup (p.Cys1296_Pro1297insLysPheIleLysGlyAlaCys) c.1317_1337dup (n.1317_1337dup) c.2635_2655dup (p.Cys885_Pro886insLysPheIleLysGlyAlaCys) n.2713_2733dup n.5020_5040dup n.2457_2477dup n.2124_2144dup n.2526_2546dup n.1271_1291dup n.3156_3176dup n.4217_4237dup n.4479_4499dup c.3862_3882dup (p.Cys1294_Pro1295insLysPheIleLysGlyAlaCys) c.3472_3492dup (p.Cys1164_Pro1165insLysPheIleLysGlyAlaCys) c.169+1664_169+1684dup (n.169+1664_169+1684dup) c.*124+1463_*124+1483dup (n.*124+1463_*124+1483dup) c.*3209_*3229dup (n.*3209_*3229dup) c.2956_2976dup (p.Cys992_Pro993insLysPheIleLysGlyAlaCys) c.763_783dup (p.Cys261_Pro262insLysPheIleLysGlyAlaCys) c.3679_3699dup (p.Cys1233_Pro1234insLysPheIleLysGlyAlaCys) c.3955_3975dup (p.Cys1325_Pro1326insLysPheIleLysGlyAlaCys) c.3772_3792dup (p.Cys1264_Pro1265insLysPheIleLysGlyAlaCys) c.3658_3678dup (p.Cys1226_Pro1227insLysPheIleLysGlyAlaCys) c.3049_3069dup (p.Cys1023_Pro1024insLysPheIleLysGlyAlaCys) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.47806515_47806538del | CA913188038 | FBXO11,MSH6 | c.3568_3591del (p.Phe1190_Lys1197del) c.3481_3504del (p.Phe1161_Lys1168del) n.4539_4562del c.2299_2322del (p.Phe767_Lys774del) c.3871_3894del (p.Phe1291_Lys1298del) c.1320_1343del (n.1320_1343del) c.2638_2661del (p.Phe880_Lys887del) n.2716_2739del n.5023_5046del n.2460_2483del n.2127_2150del n.2529_2552del n.1274_1297del n.3159_3182del n.4214_4237del n.4476_4499del c.3865_3888del (p.Phe1289_Lys1296del) c.3475_3498del (p.Phe1159_Lys1166del) c.169+1661_169+1684del (n.169+1661_169+1684del) c.*124+1460_*124+1483del (n.*124+1460_*124+1483del) c.*3212_*3235del (n.*3212_*3235del) c.2959_2982del (p.Phe987_Lys994del) c.766_789del (p.Phe256_Lys263del) c.3682_3705del (p.Phe1228_Lys1235del) c.3958_3981del (p.Phe1320_Lys1327del) c.3775_3798del (p.Phe1259_Lys1266del) c.3661_3684del (p.Phe1221_Lys1228del) c.3052_3075del (p.Phe1018_Lys1025del) | ClinVar dbSNP |
| 2 | g.47806513_47806526del | CA2695200639 | FBXO11,MSH6 | c.3566_3579del (p.Lys1189SerfsTer4) c.3479_3492del (p.Lys1160SerfsTer4) n.4537_4550del c.2297_2310del (p.Lys766SerfsTer4) c.3869_3882del (p.Lys1290SerfsTer4) c.1318_1331del (n.1318_1331del) c.2636_2649del (p.Lys879SerfsTer4) n.2714_2727del n.5021_5034del n.2458_2471del n.2125_2138del n.2527_2540del n.1272_1285del n.3157_3170del n.4223_4236del n.4485_4498del c.3863_3876del (p.Lys1288SerfsTer4) c.3473_3486del (p.Lys1158SerfsTer4) c.169+1670_169+1683del (n.169+1670_169+1683del) c.*124+1469_*124+1482del (n.*124+1469_*124+1482del) c.*3210_*3223del (n.*3210_*3223del) c.2957_2970del (p.Lys986SerfsTer4) c.764_777del (p.Lys255SerfsTer4) c.3680_3693del (p.Lys1227SerfsTer4) c.3956_3969del (p.Lys1319SerfsTer4) c.3773_3786del (p.Lys1258SerfsTer4) c.3659_3672del (p.Lys1220SerfsTer4) c.3050_3063del (p.Lys1017SerfsTer4) | ClinVar |
| 2 | g.47806523_47806538dup | CA2573134791 | FBXO11,MSH6 | c.3576_3591dup (p.Ser1198GlyfsTer5) c.3489_3504dup (p.Ser1169GlyfsTer5) n.4547_4562dup c.2307_2322dup (p.Ser775GlyfsTer5) c.3879_3894dup (p.Ser1299GlyfsTer5) c.1328_1343dup (n.1328_1343dup) c.2646_2661dup (p.Ser888GlyfsTer5) n.2724_2739dup n.5031_5046dup n.2468_2483dup n.2135_2150dup n.2537_2552dup n.1282_1297dup n.3167_3182dup n.4212_4227dup n.4474_4489dup c.3873_3888dup (p.Ser1297GlyfsTer5) c.3483_3498dup (p.Ser1167GlyfsTer5) c.169+1659_169+1674dup (n.169+1659_169+1674dup) c.*124+1458_*124+1473dup (n.*124+1458_*124+1473dup) c.*3220_*3235dup (n.*3220_*3235dup) c.2967_2982dup (p.Ser995GlyfsTer5) c.774_789dup (p.Ser264GlyfsTer5) c.3690_3705dup (p.Ser1236GlyfsTer5) c.3966_3981dup (p.Ser1328GlyfsTer5) c.3783_3798dup (p.Ser1267GlyfsTer5) c.3669_3684dup (p.Ser1229GlyfsTer5) c.3060_3075dup (p.Ser1026GlyfsTer5) | ClinVar dbSNP |
| 2 | g.47806524_47806552dup | CA2697548081 | FBXO11,MSH6 | c.3577_3605dup (p.Asn1202LysfsTer36) c.3490_3518dup (p.Asn1173LysfsTer36) n.4548_4576dup c.2308_2336dup (p.Asn779LysfsTer36) c.3880_3908dup (p.Asn1303LysfsTer36) c.1329_1357dup (n.1329_1357dup) c.2647_2675dup (p.Asn892LysfsTer36) n.2725_2753dup n.5032_5060dup n.2469_2497dup n.2136_2164dup n.2538_2566dup n.1283_1311dup n.3168_3196dup n.4196_4224dup n.4458_4486dup c.3874_3902dup (p.Asn1301LysfsTer36) c.3484_3512dup (p.Asn1171LysfsTer36) c.169+1643_169+1671dup (n.169+1643_169+1671dup) c.*124+1442_*124+1470dup (n.*124+1442_*124+1470dup) c.*3221_*3249dup (n.*3221_*3249dup) c.2968_2996dup (p.Asn999LysfsTer36) c.775_803dup (p.Asn268LysfsTer36) c.3691_3719dup (p.Asn1240LysfsTer36) c.3967_3995dup (p.Asn1332LysfsTer36) c.3784_3812dup (p.Asn1271LysfsTer36) c.3670_3698dup (p.Asn1233LysfsTer36) c.3061_3089dup (p.Asn1030LysfsTer36) | ClinVar |
| 2 | g.47806525G>A | CA346761366 | FBXO11,MSH6 | c.3578G>A (p.Gly1193Glu) c.3491G>A (p.Gly1164Glu) n.4549G>A c.2309G>A (p.Gly770Glu) c.3881G>A (p.Gly1294Glu) c.1330G>A (n.1330G>A) c.2648G>A (p.Gly883Glu) n.2726G>A n.5033G>A n.2470G>A n.2137G>A n.2539G>A n.1284G>A n.3169G>A n.4223C>T n.4485C>T c.3875G>A (p.Gly1292Glu) c.3485G>A (p.Gly1162Glu) c.169+1670C>T (n.169+1670C>T) c.*124+1469C>T (n.*124+1469C>T) c.*3222G>A (n.*3222G>A) c.2969G>A (p.Gly990Glu) c.776G>A (p.Gly259Glu) c.3692G>A (p.Gly1231Glu) c.3968G>A (p.Gly1323Glu) c.3785G>A (p.Gly1262Glu) c.3671G>A (p.Gly1224Glu) c.3062G>A (p.Gly1021Glu) | dbSNP |
| 2 | g.47806525G>C | CA346761368 | FBXO11,MSH6 | c.3578G>C (p.Gly1193Ala) c.3491G>C (p.Gly1164Ala) n.4549G>C c.2309G>C (p.Gly770Ala) c.3881G>C (p.Gly1294Ala) c.1330G>C (n.1330G>C) c.2648G>C (p.Gly883Ala) n.2726G>C n.5033G>C n.2470G>C n.2137G>C n.2539G>C n.1284G>C n.3169G>C n.4223C>G n.4485C>G c.3875G>C (p.Gly1292Ala) c.3485G>C (p.Gly1162Ala) c.169+1670C>G (n.169+1670C>G) c.*124+1469C>G (n.*124+1469C>G) c.*3222G>C (n.*3222G>C) c.2969G>C (p.Gly990Ala) c.776G>C (p.Gly259Ala) c.3692G>C (p.Gly1231Ala) c.3968G>C (p.Gly1323Ala) c.3785G>C (p.Gly1262Ala) c.3671G>C (p.Gly1224Ala) c.3062G>C (p.Gly1021Ala) | ClinVar dbSNP |
| 2 | g.47806525G= | CA2496054205 | FBXO11,MSH6 | c.3578G= (p.Gly1193=) c.3491G= (p.Gly1164=) n.4549G= c.2309G= (p.Gly770=) c.3881G= (p.Gly1294=) c.1330G= (n.1330G=) c.2648G= (p.Gly883=) n.2726G= n.5033G= n.2470G= n.2137G= n.2539G= n.1284G= n.3169G= n.4223C= n.4485C= c.3875G= (p.Gly1292=) c.3485G= (p.Gly1162=) c.169+1670C= (n.169+1670C=) c.*124+1469C= (n.*124+1469C=) c.*3222G= (n.*3222G=) c.2969G= (p.Gly990=) c.776G= (p.Gly259=) c.3692G= (p.Gly1231=) c.3968G= (p.Gly1323=) c.3785G= (p.Gly1262=) c.3671G= (p.Gly1224=) c.3062G= (p.Gly1021=) | |
| 2 | g.47806525G>T | CA346761367 | FBXO11,MSH6 | c.3578G>T (p.Gly1193Val) c.3491G>T (p.Gly1164Val) n.4549G>T c.2309G>T (p.Gly770Val) c.3881G>T (p.Gly1294Val) c.1330G>T (n.1330G>T) c.2648G>T (p.Gly883Val) n.2726G>T n.5033G>T n.2470G>T n.2137G>T n.2539G>T n.1284G>T n.3169G>T n.4223C>A n.4485C>A c.3875G>T (p.Gly1292Val) c.3485G>T (p.Gly1162Val) c.169+1670C>A (n.169+1670C>A) c.*124+1469C>A (n.*124+1469C>A) c.*3222G>T (n.*3222G>T) c.2969G>T (p.Gly990Val) c.776G>T (p.Gly259Val) c.3692G>T (p.Gly1231Val) c.3968G>T (p.Gly1323Val) c.3785G>T (p.Gly1262Val) c.3671G>T (p.Gly1224Val) c.3062G>T (p.Gly1021Val) | dbSNP |
| 2 | g.47806525_47806538delinsGAGCTTGTCCTAAA | CA2496054206 | FBXO11,MSH6 | c.3578_3591delinsGAGCTTGTCCTAAA (p.Gly1193=) c.3491_3504delinsGAGCTTGTCCTAAA (p.Gly1164=) n.4549_4562delinsGAGCTTGTCCTAAA c.2309_2322delinsGAGCTTGTCCTAAA (p.Gly770=) c.3881_3894delinsGAGCTTGTCCTAAA (p.Gly1294=) c.1330_1343delinsGAGCTTGTCCTAAA (n.1330_1343delinsGAGCTTGTCCTAAA) c.2648_2661delinsGAGCTTGTCCTAAA (p.Gly883=) n.2726_2739delinsGAGCTTGTCCTAAA n.5033_5046delinsGAGCTTGTCCTAAA n.2470_2483delinsGAGCTTGTCCTAAA n.2137_2150delinsGAGCTTGTCCTAAA n.2539_2552delinsGAGCTTGTCCTAAA n.1284_1297delinsGAGCTTGTCCTAAA n.3169_3182delinsGAGCTTGTCCTAAA n.4210_4223delinsTTTAGGACAAGCTC n.4472_4485delinsTTTAGGACAAGCTC c.3875_3888delinsGAGCTTGTCCTAAA (p.Gly1292=) c.3485_3498delinsGAGCTTGTCCTAAA (p.Gly1162=) c.169+1657_169+1670delinsTTTAGGACAAGCTC (n.169+1657_169+1670delinsTTTAGGACAAGCTC) c.*124+1456_*124+1469delinsTTTAGGACAAGCTC (n.*124+1456_*124+1469delinsTTTAGGACAAGCTC) c.*3222_*3235delinsGAGCTTGTCCTAAA (n.*3222_*3235delinsGAGCTTGTCCTAAA) c.2969_2982delinsGAGCTTGTCCTAAA (p.Gly990=) c.776_789delinsGAGCTTGTCCTAAA (p.Gly259=) c.3692_3705delinsGAGCTTGTCCTAAA (p.Gly1231=) c.3968_3981delinsGAGCTTGTCCTAAA (p.Gly1323=) c.3785_3798delinsGAGCTTGTCCTAAA (p.Gly1262=) c.3671_3684delinsGAGCTTGTCCTAAA (p.Gly1224=) c.3062_3075delinsGAGCTTGTCCTAAA (p.Gly1021=) | |
| 2 | g.47806526A= | CA2496054208 | FBXO11,MSH6 | c.3579A= (p.Gly1193=) c.3492A= (p.Gly1164=) n.4550A= c.2310A= (p.Gly770=) c.3882A= (p.Gly1294=) c.1331A= (n.1331A=) c.2649A= (p.Gly883=) n.2727A= n.5034A= n.2471A= n.2138A= n.2540A= n.1285A= n.3170A= n.4222T= n.4484T= c.3876A= (p.Gly1292=) c.3486A= (p.Gly1162=) c.169+1669T= (n.169+1669T=) c.*124+1468T= (n.*124+1468T=) c.*3223A= (n.*3223A=) c.2970A= (p.Gly990=) c.777A= (p.Gly259=) c.3693A= (p.Gly1231=) c.3969A= (p.Gly1323=) c.3786A= (p.Gly1262=) c.3672A= (p.Gly1224=) c.3063A= (p.Gly1021=) | |
| 2 | g.47806526A>C | CA426122133 | FBXO11,MSH6 | c.3579A>C (p.Gly1193=) c.3492A>C (p.Gly1164=) n.4550A>C c.2310A>C (p.Gly770=) c.3882A>C (p.Gly1294=) c.1331A>C (n.1331A>C) c.2649A>C (p.Gly883=) n.2727A>C n.5034A>C n.2471A>C n.2138A>C n.2540A>C n.1285A>C n.3170A>C n.4222T>G n.4484T>G c.3876A>C (p.Gly1292=) c.3486A>C (p.Gly1162=) c.169+1669T>G (n.169+1669T>G) c.*124+1468T>G (n.*124+1468T>G) c.*3223A>C (n.*3223A>C) c.2970A>C (p.Gly990=) c.777A>C (p.Gly259=) c.3693A>C (p.Gly1231=) c.3969A>C (p.Gly1323=) c.3786A>C (p.Gly1262=) c.3672A>C (p.Gly1224=) c.3063A>C (p.Gly1021=) | ClinVar dbSNP |
| 2 | g.47806526A>G | CA426122134 | FBXO11,MSH6 | c.3579A>G (p.Gly1193=) c.3492A>G (p.Gly1164=) n.4550A>G c.2310A>G (p.Gly770=) c.3882A>G (p.Gly1294=) c.1331A>G (n.1331A>G) c.2649A>G (p.Gly883=) n.2727A>G n.5034A>G n.2471A>G n.2138A>G n.2540A>G n.1285A>G n.3170A>G n.4222T>C n.4484T>C c.3876A>G (p.Gly1292=) c.3486A>G (p.Gly1162=) c.169+1669T>C (n.169+1669T>C) c.*124+1468T>C (n.*124+1468T>C) c.*3223A>G (n.*3223A>G) c.2970A>G (p.Gly990=) c.777A>G (p.Gly259=) c.3693A>G (p.Gly1231=) c.3969A>G (p.Gly1323=) c.3786A>G (p.Gly1262=) c.3672A>G (p.Gly1224=) c.3063A>G (p.Gly1021=) | dbSNP COSMIC |
| 2 | g.47806526A>T | CA426122135 | FBXO11,MSH6 | c.3579A>T (p.Gly1193=) c.3492A>T (p.Gly1164=) n.4550A>T c.2310A>T (p.Gly770=) c.3882A>T (p.Gly1294=) c.1331A>T (n.1331A>T) c.2649A>T (p.Gly883=) n.2727A>T n.5034A>T n.2471A>T n.2138A>T n.2540A>T n.1285A>T n.3170A>T n.4222T>A n.4484T>A c.3876A>T (p.Gly1292=) c.3486A>T (p.Gly1162=) c.169+1669T>A (n.169+1669T>A) c.*124+1468T>A (n.*124+1468T>A) c.*3223A>T (n.*3223A>T) c.2970A>T (p.Gly990=) c.777A>T (p.Gly259=) c.3693A>T (p.Gly1231=) c.3969A>T (p.Gly1323=) c.3786A>T (p.Gly1262=) c.3672A>T (p.Gly1224=) c.3063A>T (p.Gly1021=) | dbSNP |
| 2 | g.47806530_47806542del | CA658655760 | FBXO11,MSH6 | c.3583_3595del (p.Cys1195MetfsTer29) c.3496_3508del (p.Cys1166MetfsTer29) n.4554_4566del c.2314_2326del (p.Cys772MetfsTer29) c.3886_3898del (p.Cys1296MetfsTer29) c.1335_1347del (n.1335_1347del) c.2653_2665del (p.Cys885MetfsTer29) n.2731_2743del n.5038_5050del n.2475_2487del n.2142_2154del n.2544_2556del n.1289_1301del n.3174_3186del n.4210_4222del n.4472_4484del c.3880_3892del (p.Cys1294MetfsTer29) c.3490_3502del (p.Cys1164MetfsTer29) c.169+1657_169+1669del (n.169+1657_169+1669del) c.*124+1456_*124+1468del (n.*124+1456_*124+1468del) c.*3227_*3239del (n.*3227_*3239del) c.2974_2986del (p.Cys992MetfsTer29) c.781_793del (p.Cys261MetfsTer29) c.3697_3709del (p.Cys1233MetfsTer29) c.3973_3985del (p.Cys1325MetfsTer29) c.3790_3802del (p.Cys1264MetfsTer29) c.3676_3688del (p.Cys1226MetfsTer29) c.3067_3079del (p.Cys1023MetfsTer29) | ClinVar dbSNP |
| 2 | g.47806529_47806558del | CA2580067418 | FBXO11,MSH6 | c.3582_3611del (p.Cys1195_Ala1204del) c.3495_3524del (p.Cys1166_Ala1175del) n.4553_4582del c.2313_2342del (p.Cys772_Ala781del) c.3885_3914del (p.Cys1296_Ala1305del) c.1334_1363del (n.1334_1363del) c.2652_2681del (p.Cys885_Ala894del) n.2730_2759del n.5037_5066del n.2474_2503del n.2141_2170del n.2543_2572del n.1288_1317del n.3173_3202del n.4193_4222del n.4455_4484del c.3879_3908del (p.Cys1294_Ala1303del) c.3489_3518del (p.Cys1164_Ala1173del) c.169+1640_169+1669del (n.169+1640_169+1669del) c.*124+1439_*124+1468del (n.*124+1439_*124+1468del) c.*3226_*3255del (n.*3226_*3255del) c.2973_3002del (p.Cys992_Ala1001del) c.780_809del (p.Cys261_Ala270del) c.3696_3725del (p.Cys1233_Ala1242del) c.3972_4001del (p.Cys1325_Ala1334del) c.3789_3818del (p.Cys1264_Ala1273del) c.3675_3704del (p.Cys1226_Ala1235del) c.3066_3095del (p.Cys1023_Ala1032del) | ClinVar |
| 2 | g.47806527G>A | CA346761369 | FBXO11,MSH6 | c.3580G>A (p.Ala1194Thr) c.3493G>A (p.Ala1165Thr) n.4551G>A c.2311G>A (p.Ala771Thr) c.3883G>A (p.Ala1295Thr) c.1332G>A (n.1332G>A) c.2650G>A (p.Ala884Thr) n.2728G>A n.5035G>A n.2472G>A n.2139G>A n.2541G>A n.1286G>A n.3171G>A n.4221C>T n.4483C>T c.3877G>A (p.Ala1293Thr) c.3487G>A (p.Ala1163Thr) c.169+1668C>T (n.169+1668C>T) c.*124+1467C>T (n.*124+1467C>T) c.*3224G>A (n.*3224G>A) c.2971G>A (p.Ala991Thr) c.778G>A (p.Ala260Thr) c.3694G>A (p.Ala1232Thr) c.3970G>A (p.Ala1324Thr) c.3787G>A (p.Ala1263Thr) c.3673G>A (p.Ala1225Thr) c.3064G>A (p.Ala1022Thr) | ClinVar dbSNP gnomAD v4 |
| 2 | g.47806527G>C | CA346761370 | FBXO11,MSH6 | c.3580G>C (p.Ala1194Pro) c.3493G>C (p.Ala1165Pro) n.4551G>C c.2311G>C (p.Ala771Pro) c.3883G>C (p.Ala1295Pro) c.1332G>C (n.1332G>C) c.2650G>C (p.Ala884Pro) n.2728G>C n.5035G>C n.2472G>C n.2139G>C n.2541G>C n.1286G>C n.3171G>C n.4221C>G n.4483C>G c.3877G>C (p.Ala1293Pro) c.3487G>C (p.Ala1163Pro) c.169+1668C>G (n.169+1668C>G) c.*124+1467C>G (n.*124+1467C>G) c.*3224G>C (n.*3224G>C) c.2971G>C (p.Ala991Pro) c.778G>C (p.Ala260Pro) c.3694G>C (p.Ala1232Pro) c.3970G>C (p.Ala1324Pro) c.3787G>C (p.Ala1263Pro) c.3673G>C (p.Ala1225Pro) c.3064G>C (p.Ala1022Pro) | ClinVar dbSNP |
| 2 | g.47806527G= | CA2496054210 | FBXO11,MSH6 | c.3580G= (p.Ala1194=) c.3493G= (p.Ala1165=) n.4551G= c.2311G= (p.Ala771=) c.3883G= (p.Ala1295=) c.1332G= (n.1332G=) c.2650G= (p.Ala884=) n.2728G= n.5035G= n.2472G= n.2139G= n.2541G= n.1286G= n.3171G= n.4221C= n.4483C= c.3877G= (p.Ala1293=) c.3487G= (p.Ala1163=) c.169+1668C= (n.169+1668C=) c.*124+1467C= (n.*124+1467C=) c.*3224G= (n.*3224G=) c.2971G= (p.Ala991=) c.778G= (p.Ala260=) c.3694G= (p.Ala1232=) c.3970G= (p.Ala1324=) c.3787G= (p.Ala1263=) c.3673G= (p.Ala1225=) c.3064G= (p.Ala1022=) | |
| 2 | g.47806527G>T | CA346761371 | FBXO11,MSH6 | c.3580G>T (p.Ala1194Ser) c.3493G>T (p.Ala1165Ser) n.4551G>T c.2311G>T (p.Ala771Ser) c.3883G>T (p.Ala1295Ser) c.1332G>T (n.1332G>T) c.2650G>T (p.Ala884Ser) n.2728G>T n.5035G>T n.2472G>T n.2139G>T n.2541G>T n.1286G>T n.3171G>T n.4221C>A n.4483C>A c.3877G>T (p.Ala1293Ser) c.3487G>T (p.Ala1163Ser) c.169+1668C>A (n.169+1668C>A) c.*124+1467C>A (n.*124+1467C>A) c.*3224G>T (n.*3224G>T) c.2971G>T (p.Ala991Ser) c.778G>T (p.Ala260Ser) c.3694G>T (p.Ala1232Ser) c.3970G>T (p.Ala1324Ser) c.3787G>T (p.Ala1263Ser) c.3673G>T (p.Ala1225Ser) c.3064G>T (p.Ala1022Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.47806528_47806531dup | CA16617713 | FBXO11,MSH6 | c.3581_3584dup (p.Pro1196LeufsTer3) c.3494_3497dup (p.Pro1167LeufsTer3) n.4552_4555dup c.2312_2315dup (p.Pro773LeufsTer3) c.3884_3887dup (p.Pro1297LeufsTer3) c.1333_1336dup (n.1333_1336dup) c.2651_2654dup (p.Pro886LeufsTer3) n.2729_2732dup n.5036_5039dup n.2473_2476dup n.2140_2143dup n.2542_2545dup n.1287_1290dup n.3172_3175dup n.4218_4221dup n.4480_4483dup c.3878_3881dup (p.Pro1295LeufsTer3) c.3488_3491dup (p.Pro1165LeufsTer3) c.169+1665_169+1668dup (n.169+1665_169+1668dup) c.*124+1464_*124+1467dup (n.*124+1464_*124+1467dup) c.*3225_*3228dup (n.*3225_*3228dup) c.2972_2975dup (p.Pro993LeufsTer3) c.779_782dup (p.Pro262LeufsTer3) c.3695_3698dup (p.Pro1234LeufsTer3) c.3971_3974dup (p.Pro1326LeufsTer3) c.3788_3791dup (p.Pro1265LeufsTer3) c.3674_3677dup (p.Pro1227LeufsTer3) c.3065_3068dup (p.Pro1024LeufsTer3) | ClinVar dbSNP |
| 2 | g.47806528C>A | CA346761372 | FBXO11,MSH6 | c.3581C>A (p.Ala1194Asp) c.3494C>A (p.Ala1165Asp) n.4552C>A c.2312C>A (p.Ala771Asp) c.3884C>A (p.Ala1295Asp) c.1333C>A (n.1333C>A) c.2651C>A (p.Ala884Asp) n.2729C>A n.5036C>A n.2473C>A n.2140C>A n.2542C>A n.1287C>A n.3172C>A n.4220G>T n.4482G>T c.3878C>A (p.Ala1293Asp) c.3488C>A (p.Ala1163Asp) c.169+1667G>T (n.169+1667G>T) c.*124+1466G>T (n.*124+1466G>T) c.*3225C>A (n.*3225C>A) c.2972C>A (p.Ala991Asp) c.779C>A (p.Ala260Asp) c.3695C>A (p.Ala1232Asp) c.3971C>A (p.Ala1324Asp) c.3788C>A (p.Ala1263Asp) c.3674C>A (p.Ala1225Asp) c.3065C>A (p.Ala1022Asp) | ClinVar dbSNP gnomAD v4 |
| 2 | g.47806528C= | CA2496054246 | FBXO11,MSH6 | c.3581C= (p.Ala1194=) c.3494C= (p.Ala1165=) n.4552C= c.2312C= (p.Ala771=) c.3884C= (p.Ala1295=) c.1333C= (n.1333C=) c.2651C= (p.Ala884=) n.2729C= n.5036C= n.2473C= n.2140C= n.2542C= n.1287C= n.3172C= n.4220G= n.4482G= c.3878C= (p.Ala1293=) c.3488C= (p.Ala1163=) c.169+1667G= (n.169+1667G=) c.*124+1466G= (n.*124+1466G=) c.*3225C= (n.*3225C=) c.2972C= (p.Ala991=) c.779C= (p.Ala260=) c.3695C= (p.Ala1232=) c.3971C= (p.Ala1324=) c.3788C= (p.Ala1263=) c.3674C= (p.Ala1225=) c.3065C= (p.Ala1022=) | |
| 2 | g.47806528C>G | CA072242 | FBXO11,MSH6 | c.3581C>G (p.Ala1194Gly) c.3494C>G (p.Ala1165Gly) n.4552C>G c.2312C>G (p.Ala771Gly) c.3884C>G (p.Ala1295Gly) c.1333C>G (n.1333C>G) c.2651C>G (p.Ala884Gly) n.2729C>G n.5036C>G n.2473C>G n.2140C>G n.2542C>G n.1287C>G n.3172C>G n.4220G>C n.4482G>C c.3878C>G (p.Ala1293Gly) c.3488C>G (p.Ala1163Gly) c.169+1667G>C (n.169+1667G>C) c.*124+1466G>C (n.*124+1466G>C) c.*3225C>G (n.*3225C>G) c.2972C>G (p.Ala991Gly) c.779C>G (p.Ala260Gly) c.3695C>G (p.Ala1232Gly) c.3971C>G (p.Ala1324Gly) c.3788C>G (p.Ala1263Gly) c.3674C>G (p.Ala1225Gly) c.3065C>G (p.Ala1022Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.47806528C>T | CA346761373 | FBXO11,MSH6 | c.3581C>T (p.Ala1194Val) c.3494C>T (p.Ala1165Val) n.4552C>T c.2312C>T (p.Ala771Val) c.3884C>T (p.Ala1295Val) c.1333C>T (n.1333C>T) c.2651C>T (p.Ala884Val) n.2729C>T n.5036C>T n.2473C>T n.2140C>T n.2542C>T n.1287C>T n.3172C>T n.4220G>A n.4482G>A c.3878C>T (p.Ala1293Val) c.3488C>T (p.Ala1163Val) c.169+1667G>A (n.169+1667G>A) c.*124+1466G>A (n.*124+1466G>A) c.*3225C>T (n.*3225C>T) c.2972C>T (p.Ala991Val) c.779C>T (p.Ala260Val) c.3695C>T (p.Ala1232Val) c.3971C>T (p.Ala1324Val) c.3788C>T (p.Ala1263Val) c.3674C>T (p.Ala1225Val) c.3065C>T (p.Ala1022Val) | ClinVar dbSNP |
| 2 | g.47806529T>A | CA426122136 | FBXO11,MSH6 | c.3582T>A (p.Ala1194=) c.3495T>A (p.Ala1165=) n.4553T>A c.2313T>A (p.Ala771=) c.3885T>A (p.Ala1295=) c.1334T>A (n.1334T>A) c.2652T>A (p.Ala884=) n.2730T>A n.5037T>A n.2474T>A n.2141T>A n.2543T>A n.1288T>A n.3173T>A n.4219A>T n.4481A>T c.3879T>A (p.Ala1293=) c.3489T>A (p.Ala1163=) c.169+1666A>T (n.169+1666A>T) c.*124+1465A>T (n.*124+1465A>T) c.*3226T>A (n.*3226T>A) c.2973T>A (p.Ala991=) c.780T>A (p.Ala260=) c.3696T>A (p.Ala1232=) c.3972T>A (p.Ala1324=) c.3789T>A (p.Ala1263=) c.3675T>A (p.Ala1225=) c.3066T>A (p.Ala1022=) | dbSNP |
| 2 | g.47806529T>C | CA072251 | FBXO11,MSH6 | c.3582T>C (p.Ala1194=) c.3495T>C (p.Ala1165=) n.4553T>C c.2313T>C (p.Ala771=) c.3885T>C (p.Ala1295=) c.1334T>C (n.1334T>C) c.2652T>C (p.Ala884=) n.2730T>C n.5037T>C n.2474T>C n.2141T>C n.2543T>C n.1288T>C n.3173T>C n.4219A>G n.4481A>G c.3879T>C (p.Ala1293=) c.3489T>C (p.Ala1163=) c.169+1666A>G (n.169+1666A>G) c.*124+1465A>G (n.*124+1465A>G) c.*3226T>C (n.*3226T>C) c.2973T>C (p.Ala991=) c.780T>C (p.Ala260=) c.3696T>C (p.Ala1232=) c.3972T>C (p.Ala1324=) c.3789T>C (p.Ala1263=) c.3675T>C (p.Ala1225=) c.3066T>C (p.Ala1022=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.47806529T>G | CA426122137 | FBXO11,MSH6 | c.3582T>G (p.Ala1194=) c.3495T>G (p.Ala1165=) n.4553T>G c.2313T>G (p.Ala771=) c.3885T>G (p.Ala1295=) c.1334T>G (n.1334T>G) c.2652T>G (p.Ala884=) n.2730T>G n.5037T>G n.2474T>G n.2141T>G n.2543T>G n.1288T>G n.3173T>G n.4219A>C n.4481A>C c.3879T>G (p.Ala1293=) c.3489T>G (p.Ala1163=) c.169+1666A>C (n.169+1666A>C) c.*124+1465A>C (n.*124+1465A>C) c.*3226T>G (n.*3226T>G) c.2973T>G (p.Ala991=) c.780T>G (p.Ala260=) c.3696T>G (p.Ala1232=) c.3972T>G (p.Ala1324=) c.3789T>G (p.Ala1263=) c.3675T>G (p.Ala1225=) c.3066T>G (p.Ala1022=) | ClinVar |
| 2 | g.47806529T= | CA2496054247 | FBXO11,MSH6 | c.3582T= (p.Ala1194=) c.3495T= (p.Ala1165=) n.4553T= c.2313T= (p.Ala771=) c.3885T= (p.Ala1295=) c.1334T= (n.1334T=) c.2652T= (p.Ala884=) n.2730T= n.5037T= n.2474T= n.2141T= n.2543T= n.1288T= n.3173T= n.4219A= n.4481A= c.3879T= (p.Ala1293=) c.3489T= (p.Ala1163=) c.169+1666A= (n.169+1666A=) c.*124+1465A= (n.*124+1465A=) c.*3226T= (n.*3226T=) c.2973T= (p.Ala991=) c.780T= (p.Ala260=) c.3696T= (p.Ala1232=) c.3972T= (p.Ala1324=) c.3789T= (p.Ala1263=) c.3675T= (p.Ala1225=) c.3066T= (p.Ala1022=) | |
| 2 | g.47806530del | CA2499216139 | FBXO11,MSH6 | c.3583del (p.Cys1195ValfsTer?) c.3496del (p.Cys1166ValfsTer?) n.4554del c.2314del (p.Cys772ValfsTer?) c.3886del (p.Cys1296ValfsTer?) c.1335del (n.1335del) c.2653del (p.Cys885ValfsTer?) n.2731del n.5038del n.2475del n.2142del n.2544del n.1289del n.3174del n.4219del n.4481del c.3880del (p.Cys1294ValfsTer?) c.3490del (p.Cys1164ValfsTer?) c.169+1666del (n.169+1666del) c.*124+1465del (n.*124+1465del) c.*3227del (n.*3227del) c.2974del (p.Cys992ValfsTer?) c.781del (p.Cys261ValfsTer?) c.3697del (p.Cys1233ValfsTer?) c.3973del (p.Cys1325ValfsTer?) c.3790del (p.Cys1264ValfsTer?) c.3676del (p.Cys1226ValfsTer?) c.3067del (p.Cys1023ValfsTer?) | ClinVar dbSNP |
| 2 | g.47806531_47806550dup | CA2580067424 | FBXO11,MSH6 | c.3584_3603dup (p.Asn1202ValfsTer33) c.3497_3516dup (p.Asn1173ValfsTer33) n.4555_4574dup c.2315_2334dup (p.Asn779ValfsTer33) c.3887_3906dup (p.Asn1303ValfsTer33) c.1336_1355dup (n.1336_1355dup) c.2654_2673dup (p.Asn892ValfsTer33) n.2732_2751dup n.5039_5058dup n.2476_2495dup n.2143_2162dup n.2545_2564dup n.1290_1309dup n.3175_3194dup n.4200_4219dup n.4462_4481dup c.3881_3900dup (p.Asn1301ValfsTer33) c.3491_3510dup (p.Asn1171ValfsTer33) c.169+1647_169+1666dup (n.169+1647_169+1666dup) c.*124+1446_*124+1465dup (n.*124+1446_*124+1465dup) c.*3228_*3247dup (n.*3228_*3247dup) c.2975_2994dup (p.Asn999ValfsTer33) c.782_801dup (p.Asn268ValfsTer33) c.3698_3717dup (p.Asn1240ValfsTer33) c.3974_3993dup (p.Asn1332ValfsTer33) c.3791_3810dup (p.Asn1271ValfsTer33) c.3677_3696dup (p.Asn1233ValfsTer33) c.3068_3087dup (p.Asn1030ValfsTer33) | ClinVar |
| 2 | g.47806530T>A | CA346761374 | FBXO11,MSH6 | c.3583T>A (p.Cys1195Ser) c.3496T>A (p.Cys1166Ser) n.4554T>A c.2314T>A (p.Cys772Ser) c.3886T>A (p.Cys1296Ser) c.1335T>A (n.1335T>A) c.2653T>A (p.Cys885Ser) n.2731T>A n.5038T>A n.2475T>A n.2142T>A n.2544T>A n.1289T>A n.3174T>A n.4218A>T n.4480A>T c.3880T>A (p.Cys1294Ser) c.3490T>A (p.Cys1164Ser) c.169+1665A>T (n.169+1665A>T) c.*124+1464A>T (n.*124+1464A>T) c.*3227T>A (n.*3227T>A) c.2974T>A (p.Cys992Ser) c.781T>A (p.Cys261Ser) c.3697T>A (p.Cys1233Ser) c.3973T>A (p.Cys1325Ser) c.3790T>A (p.Cys1264Ser) c.3676T>A (p.Cys1226Ser) c.3067T>A (p.Cys1023Ser) | dbSNP |
| 2 | g.47806530T>C | CA346761375 | FBXO11,MSH6 | c.3583T>C (p.Cys1195Arg) c.3496T>C (p.Cys1166Arg) n.4554T>C c.2314T>C (p.Cys772Arg) c.3886T>C (p.Cys1296Arg) c.1335T>C (n.1335T>C) c.2653T>C (p.Cys885Arg) n.2731T>C n.5038T>C n.2475T>C n.2142T>C n.2544T>C n.1289T>C n.3174T>C n.4218A>G n.4480A>G c.3880T>C (p.Cys1294Arg) c.3490T>C (p.Cys1164Arg) c.169+1665A>G (n.169+1665A>G) c.*124+1464A>G (n.*124+1464A>G) c.*3227T>C (n.*3227T>C) c.2974T>C (p.Cys992Arg) c.781T>C (p.Cys261Arg) c.3697T>C (p.Cys1233Arg) c.3973T>C (p.Cys1325Arg) c.3790T>C (p.Cys1264Arg) c.3676T>C (p.Cys1226Arg) c.3067T>C (p.Cys1023Arg) | |
| 2 | g.47806530T>G | CA346761376 | FBXO11,MSH6 | c.3583T>G (p.Cys1195Gly) c.3496T>G (p.Cys1166Gly) n.4554T>G c.2314T>G (p.Cys772Gly) c.3886T>G (p.Cys1296Gly) c.1335T>G (n.1335T>G) c.2653T>G (p.Cys885Gly) n.2731T>G n.5038T>G n.2475T>G n.2142T>G n.2544T>G n.1289T>G n.3174T>G n.4218A>C n.4480A>C c.3880T>G (p.Cys1294Gly) c.3490T>G (p.Cys1164Gly) c.169+1665A>C (n.169+1665A>C) c.*124+1464A>C (n.*124+1464A>C) c.*3227T>G (n.*3227T>G) c.2974T>G (p.Cys992Gly) c.781T>G (p.Cys261Gly) c.3697T>G (p.Cys1233Gly) c.3973T>G (p.Cys1325Gly) c.3790T>G (p.Cys1264Gly) c.3676T>G (p.Cys1226Gly) c.3067T>G (p.Cys1023Gly) | |
| 2 | g.47806531del | CA2580067426 | FBXO11,MSH6 | c.3584del (p.Cys1195PhefsTer?) c.3497del (p.Cys1166PhefsTer?) n.4555del c.2315del (p.Cys772PhefsTer?) c.3887del (p.Cys1296PhefsTer?) c.1336del (n.1336del) c.2654del (p.Cys885PhefsTer?) n.2732del n.5039del n.2476del n.2143del n.2545del n.1290del n.3175del n.4217del n.4479del c.3881del (p.Cys1294PhefsTer?) c.3491del (p.Cys1164PhefsTer?) c.169+1664del (n.169+1664del) c.*124+1463del (n.*124+1463del) c.*3228del (n.*3228del) c.2975del (p.Cys992PhefsTer?) c.782del (p.Cys261PhefsTer?) c.3698del (p.Cys1233PhefsTer?) c.3974del (p.Cys1325PhefsTer?) c.3791del (p.Cys1264PhefsTer?) c.3677del (p.Cys1226PhefsTer?) c.3068del (p.Cys1023PhefsTer?) | ClinVar |
| 2 | g.47806531G>A | CA346761377 | FBXO11,MSH6 | c.3584G>A (p.Cys1195Tyr) c.3497G>A (p.Cys1166Tyr) n.4555G>A c.2315G>A (p.Cys772Tyr) c.3887G>A (p.Cys1296Tyr) c.1336G>A (n.1336G>A) c.2654G>A (p.Cys885Tyr) n.2732G>A n.5039G>A n.2476G>A n.2143G>A n.2545G>A n.1290G>A n.3175G>A n.4217C>T n.4479C>T c.3881G>A (p.Cys1294Tyr) c.3491G>A (p.Cys1164Tyr) c.169+1664C>T (n.169+1664C>T) c.*124+1463C>T (n.*124+1463C>T) c.*3228G>A (n.*3228G>A) c.2975G>A (p.Cys992Tyr) c.782G>A (p.Cys261Tyr) c.3698G>A (p.Cys1233Tyr) c.3974G>A (p.Cys1325Tyr) c.3791G>A (p.Cys1264Tyr) c.3677G>A (p.Cys1226Tyr) c.3068G>A (p.Cys1023Tyr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.47806531G>C | CA346761378 | FBXO11,MSH6 | c.3584G>C (p.Cys1195Ser) c.3497G>C (p.Cys1166Ser) n.4555G>C c.2315G>C (p.Cys772Ser) c.3887G>C (p.Cys1296Ser) c.1336G>C (n.1336G>C) c.2654G>C (p.Cys885Ser) n.2732G>C n.5039G>C n.2476G>C n.2143G>C n.2545G>C n.1290G>C n.3175G>C n.4217C>G n.4479C>G c.3881G>C (p.Cys1294Ser) c.3491G>C (p.Cys1164Ser) c.169+1664C>G (n.169+1664C>G) c.*124+1463C>G (n.*124+1463C>G) c.*3228G>C (n.*3228G>C) c.2975G>C (p.Cys992Ser) c.782G>C (p.Cys261Ser) c.3698G>C (p.Cys1233Ser) c.3974G>C (p.Cys1325Ser) c.3791G>C (p.Cys1264Ser) c.3677G>C (p.Cys1226Ser) c.3068G>C (p.Cys1023Ser) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.47806531G= | CA2496054249 | FBXO11,MSH6 | c.3584G= (p.Cys1195=) c.3497G= (p.Cys1166=) n.4555G= c.2315G= (p.Cys772=) c.3887G= (p.Cys1296=) c.1336G= (n.1336G=) c.2654G= (p.Cys885=) n.2732G= n.5039G= n.2476G= n.2143G= n.2545G= n.1290G= n.3175G= n.4217C= n.4479C= c.3881G= (p.Cys1294=) c.3491G= (p.Cys1164=) c.169+1664C= (n.169+1664C=) c.*124+1463C= (n.*124+1463C=) c.*3228G= (n.*3228G=) c.2975G= (p.Cys992=) c.782G= (p.Cys261=) c.3698G= (p.Cys1233=) c.3974G= (p.Cys1325=) c.3791G= (p.Cys1264=) c.3677G= (p.Cys1226=) c.3068G= (p.Cys1023=) | |
| 2 | g.47806531G>T | CA10582092 | FBXO11,MSH6 | c.3584G>T (p.Cys1195Phe) c.3497G>T (p.Cys1166Phe) n.4555G>T c.2315G>T (p.Cys772Phe) c.3887G>T (p.Cys1296Phe) c.1336G>T (n.1336G>T) c.2654G>T (p.Cys885Phe) n.2732G>T n.5039G>T n.2476G>T n.2143G>T n.2545G>T n.1290G>T n.3175G>T n.4217C>A n.4479C>A c.3881G>T (p.Cys1294Phe) c.3491G>T (p.Cys1164Phe) c.169+1664C>A (n.169+1664C>A) c.*124+1463C>A (n.*124+1463C>A) c.*3228G>T (n.*3228G>T) c.2975G>T (p.Cys992Phe) c.782G>T (p.Cys261Phe) c.3698G>T (p.Cys1233Phe) c.3974G>T (p.Cys1325Phe) c.3791G>T (p.Cys1264Phe) c.3677G>T (p.Cys1226Phe) c.3068G>T (p.Cys1023Phe) | ClinVar dbSNP |
| 2 | g.47806531dup | CA2580067427 | FBXO11,MSH6 | c.3584dup (p.Cys1195TrpfsTer3) c.3497dup (p.Cys1166TrpfsTer3) n.4555dup c.2315dup (p.Cys772TrpfsTer3) c.3887dup (p.Cys1296TrpfsTer3) c.1336dup (n.1336dup) c.2654dup (p.Cys885TrpfsTer3) n.2732dup n.5039dup n.2476dup n.2143dup n.2545dup n.1290dup n.3175dup n.4217dup n.4479dup c.3881dup (p.Cys1294TrpfsTer3) c.3491dup (p.Cys1164TrpfsTer3) c.169+1664dup (n.169+1664dup) c.*124+1463dup (n.*124+1463dup) c.*3228dup (n.*3228dup) c.2975dup (p.Cys992TrpfsTer3) c.782dup (p.Cys261TrpfsTer3) c.3698dup (p.Cys1233TrpfsTer3) c.3974dup (p.Cys1325TrpfsTer3) c.3791dup (p.Cys1264TrpfsTer3) c.3677dup (p.Cys1226TrpfsTer3) c.3068dup (p.Cys1023TrpfsTer3) | ClinVar |
| 2 | g.47806531_47806532delinsGT | CA2496054248 | FBXO11,MSH6 | c.3584_3585delinsGT (p.Cys1195=) c.3497_3498delinsGT (p.Cys1166=) n.4555_4556delinsGT c.2315_2316delinsGT (p.Cys772=) c.3887_3888delinsGT (p.Cys1296=) c.1336_1337delinsGT (n.1336_1337delinsGT) c.2654_2655delinsGT (p.Cys885=) n.2732_2733delinsGT n.5039_5040delinsGT n.2476_2477delinsGT n.2143_2144delinsGT n.2545_2546delinsGT n.1290_1291delinsGT n.3175_3176delinsGT n.4216_4217delinsAC n.4478_4479delinsAC c.3881_3882delinsGT (p.Cys1294=) c.3491_3492delinsGT (p.Cys1164=) c.169+1663_169+1664delinsAC (n.169+1663_169+1664delinsAC) c.*124+1462_*124+1463delinsAC (n.*124+1462_*124+1463delinsAC) c.*3228_*3229delinsGT (n.*3228_*3229delinsGT) c.2975_2976delinsGT (p.Cys992=) c.782_783delinsGT (p.Cys261=) c.3698_3699delinsGT (p.Cys1233=) c.3974_3975delinsGT (p.Cys1325=) c.3791_3792delinsGT (p.Cys1264=) c.3677_3678delinsGT (p.Cys1226=) c.3068_3069delinsGT (p.Cys1023=) | |
| 2 | g.47806532del | CA10578167 | FBXO11,MSH6 | c.3585del (p.Pro1196LeufsTer?) c.3498del (p.Pro1167LeufsTer?) n.4556del c.2316del (p.Pro773LeufsTer?) c.3888del (p.Pro1297LeufsTer?) c.1337del (n.1337del) c.2655del (p.Pro886LeufsTer?) n.2733del n.5040del n.2477del n.2144del n.2546del n.1291del n.3176del n.4216del n.4478del c.3882del (p.Pro1295LeufsTer?) c.3492del (p.Pro1165LeufsTer?) c.169+1663del (n.169+1663del) c.*124+1462del (n.*124+1462del) c.*3229del (n.*3229del) c.2976del (p.Pro993LeufsTer?) c.783del (p.Pro262LeufsTer?) c.3699del (p.Pro1234LeufsTer?) c.3975del (p.Pro1326LeufsTer?) c.3792del (p.Pro1265LeufsTer?) c.3678del (p.Pro1227LeufsTer?) c.3069del (p.Pro1024LeufsTer?) | ClinVar dbSNP |
| 2 | g.47806532T>A | CA346761379 | FBXO11,MSH6 | c.3585T>A (p.Cys1195Ter) c.3498T>A (p.Cys1166Ter) n.4556T>A c.2316T>A (p.Cys772Ter) c.3888T>A (p.Cys1296Ter) c.1337T>A (n.1337T>A) c.2655T>A (p.Cys885Ter) n.2733T>A n.5040T>A n.2477T>A n.2144T>A n.2546T>A n.1291T>A n.3176T>A n.4216A>T n.4478A>T c.3882T>A (p.Cys1294Ter) c.3492T>A (p.Cys1164Ter) c.169+1663A>T (n.169+1663A>T) c.*124+1462A>T (n.*124+1462A>T) c.*3229T>A (n.*3229T>A) c.2976T>A (p.Cys992Ter) c.783T>A (p.Cys261Ter) c.3699T>A (p.Cys1233Ter) c.3975T>A (p.Cys1325Ter) c.3792T>A (p.Cys1264Ter) c.3678T>A (p.Cys1226Ter) c.3069T>A (p.Cys1023Ter) | ClinVar dbSNP |
| 2 | g.47806532T>C | CA16611178 | FBXO11,MSH6 | c.3585T>C (p.Cys1195=) c.3498T>C (p.Cys1166=) n.4556T>C c.2316T>C (p.Cys772=) c.3888T>C (p.Cys1296=) c.1337T>C (n.1337T>C) c.2655T>C (p.Cys885=) n.2733T>C n.5040T>C n.2477T>C n.2144T>C n.2546T>C n.1291T>C n.3176T>C n.4216A>G n.4478A>G c.3882T>C (p.Cys1294=) c.3492T>C (p.Cys1164=) c.169+1663A>G (n.169+1663A>G) c.*124+1462A>G (n.*124+1462A>G) c.*3229T>C (n.*3229T>C) c.2976T>C (p.Cys992=) c.783T>C (p.Cys261=) c.3699T>C (p.Cys1233=) c.3975T>C (p.Cys1325=) c.3792T>C (p.Cys1264=) c.3678T>C (p.Cys1226=) c.3069T>C (p.Cys1023=) | ClinVar dbSNP |
| 2 | g.47806532T>G | CA346761380 | FBXO11,MSH6 | c.3585T>G (p.Cys1195Trp) c.3498T>G (p.Cys1166Trp) n.4556T>G c.2316T>G (p.Cys772Trp) c.3888T>G (p.Cys1296Trp) c.1337T>G (n.1337T>G) c.2655T>G (p.Cys885Trp) n.2733T>G n.5040T>G n.2477T>G n.2144T>G n.2546T>G n.1291T>G n.3176T>G n.4216A>C n.4478A>C c.3882T>G (p.Cys1294Trp) c.3492T>G (p.Cys1164Trp) c.169+1663A>C (n.169+1663A>C) c.*124+1462A>C (n.*124+1462A>C) c.*3229T>G (n.*3229T>G) c.2976T>G (p.Cys992Trp) c.783T>G (p.Cys261Trp) c.3699T>G (p.Cys1233Trp) c.3975T>G (p.Cys1325Trp) c.3792T>G (p.Cys1264Trp) c.3678T>G (p.Cys1226Trp) c.3069T>G (p.Cys1023Trp) | dbSNP |