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.47806486_47806499dup | CA658822269 | FBXO11,MSH6 | c.3539_3552dup (p.Thr1185AlafsTer?) c.3452_3465dup (p.Thr1156AlafsTer?) n.4510_4523dup c.2270_2283dup (p.Thr762AlafsTer?) c.3842_3855dup (p.Thr1286AlafsTer?) c.1291_1304dup (n.1291_1304dup) c.2609_2622dup (p.Thr875AlafsTer?) n.2687_2700dup n.4994_5007dup n.2431_2444dup n.2098_2111dup n.2500_2513dup n.1245_1258dup n.3130_3143dup n.4249_4262dup n.4511_4524dup c.3836_3849dup (p.Thr1284AlafsTer?) c.3446_3459dup (p.Thr1154AlafsTer?) c.169+1696_169+1709dup (n.169+1696_169+1709dup) c.*124+1495_*124+1508dup (n.*124+1495_*124+1508dup) c.*3183_*3196dup (n.*3183_*3196dup) c.2930_2943dup (p.Thr982AlafsTer?) c.737_750dup (p.Thr251AlafsTer?) c.3653_3666dup (p.Thr1223AlafsTer?) c.3929_3942dup (p.Thr1315AlafsTer?) c.3746_3759dup (p.Thr1254AlafsTer?) c.3632_3645dup (p.Thr1216AlafsTer?) c.3023_3036dup (p.Thr1013AlafsTer?) | ClinVar dbSNP |
| 2 | g.47806491_47806497dup | CA645369292 | FBXO11,MSH6 | c.3544_3550dup (p.Ile1184ArgfsTer8) c.3457_3463dup (p.Ile1155ArgfsTer8) n.4515_4521dup c.2275_2281dup (p.Ile761ArgfsTer8) c.3847_3853dup (p.Ile1285ArgfsTer8) c.1296_1302dup (n.1296_1302dup) c.2614_2620dup (p.Ile874ArgfsTer8) n.2692_2698dup n.4999_5005dup n.2436_2442dup n.2103_2109dup n.2505_2511dup n.1250_1256dup n.3135_3141dup n.4251_4257dup n.4513_4519dup c.3841_3847dup (p.Ile1283ArgfsTer8) c.3451_3457dup (p.Ile1153ArgfsTer8) c.169+1698_169+1704dup (n.169+1698_169+1704dup) c.*124+1497_*124+1503dup (n.*124+1497_*124+1503dup) c.*3188_*3194dup (n.*3188_*3194dup) c.2935_2941dup (p.Ile981ArgfsTer8) c.742_748dup (p.Ile250ArgfsTer8) c.3658_3664dup (p.Ile1222ArgfsTer8) c.3934_3940dup (p.Ile1314ArgfsTer8) c.3751_3757dup (p.Ile1253ArgfsTer8) c.3637_3643dup (p.Ile1215ArgfsTer8) c.3028_3034dup (p.Ile1012ArgfsTer8) | ClinVar dbSNP |
| 2 | g.47806492_47806523dup | CA2697548077 | FBXO11,MSH6 | c.3545_3576dup (p.Gly1193ArgfsTer?) c.3458_3489dup (p.Gly1164ArgfsTer?) n.4516_4547dup c.2276_2307dup (p.Gly770ArgfsTer?) c.3848_3879dup (p.Gly1294ArgfsTer?) c.1297_1328dup (n.1297_1328dup) c.2615_2646dup (p.Gly883ArgfsTer?) n.2693_2724dup n.5000_5031dup n.2437_2468dup n.2104_2135dup n.2506_2537dup n.1251_1282dup n.3136_3167dup n.4226_4257dup n.4488_4519dup c.3842_3873dup (p.Gly1292ArgfsTer?) c.3452_3483dup (p.Gly1162ArgfsTer?) c.169+1673_169+1704dup (n.169+1673_169+1704dup) c.*124+1472_*124+1503dup (n.*124+1472_*124+1503dup) c.*3189_*3220dup (n.*3189_*3220dup) c.2936_2967dup (p.Gly990ArgfsTer?) c.743_774dup (p.Gly259ArgfsTer?) c.3659_3690dup (p.Gly1231ArgfsTer?) c.3935_3966dup (p.Gly1323ArgfsTer?) c.3752_3783dup (p.Gly1262ArgfsTer?) c.3638_3669dup (p.Gly1224ArgfsTer?) c.3029_3060dup (p.Gly1021ArgfsTer?) | ClinVar |
| 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.47806493_47806497dup | CA2580067392 | FBXO11,MSH6 | c.3546_3550dup (p.Ile1184ArgfsTer?) c.3459_3463dup (p.Ile1155ArgfsTer?) n.4517_4521dup c.2277_2281dup (p.Ile761ArgfsTer?) c.3849_3853dup (p.Ile1285ArgfsTer?) c.1298_1302dup (n.1298_1302dup) c.2616_2620dup (p.Ile874ArgfsTer?) n.2694_2698dup n.5001_5005dup n.2438_2442dup n.2105_2109dup n.2507_2511dup n.1252_1256dup n.3137_3141dup n.4252_4256dup n.4514_4518dup c.3843_3847dup (p.Ile1283ArgfsTer?) c.3453_3457dup (p.Ile1153ArgfsTer?) c.169+1699_169+1703dup (n.169+1699_169+1703dup) c.*124+1498_*124+1502dup (n.*124+1498_*124+1502dup) c.*3190_*3194dup (n.*3190_*3194dup) c.2937_2941dup (p.Ile981ArgfsTer?) c.744_748dup (p.Ile250ArgfsTer?) c.3660_3664dup (p.Ile1222ArgfsTer?) c.3936_3940dup (p.Ile1314ArgfsTer?) c.3753_3757dup (p.Ile1253ArgfsTer?) c.3639_3643dup (p.Ile1215ArgfsTer?) c.3030_3034dup (p.Ile1012ArgfsTer?) | ClinVar |
| 2 | g.47806494_47806523dup | CA532705513 | FBXO11,MSH6 | c.3547_3576dup (p.Lys1192_Gly1193insThrIleThrPheLeuTyrLysPheIleLys) c.3460_3489dup (p.Lys1163_Gly1164insThrIleThrPheLeuTyrLysPheIleLys) n.4518_4547dup c.2278_2307dup (p.Lys769_Gly770insThrIleThrPheLeuTyrLysPheIleLys) c.3850_3879dup (p.Lys1293_Gly1294insThrIleThrPheLeuTyrLysPheIleLys) c.1299_1328dup (n.1299_1328dup) c.2617_2646dup (p.Lys882_Gly883insThrIleThrPheLeuTyrLysPheIleLys) n.2695_2724dup n.5002_5031dup n.2439_2468dup n.2106_2135dup n.2508_2537dup n.1253_1282dup n.3138_3167dup n.4227_4256dup n.4489_4518dup c.3844_3873dup (p.Lys1291_Gly1292insThrIleThrPheLeuTyrLysPheIleLys) c.3454_3483dup (p.Lys1161_Gly1162insThrIleThrPheLeuTyrLysPheIleLys) c.169+1674_169+1703dup (n.169+1674_169+1703dup) c.*124+1473_*124+1502dup (n.*124+1473_*124+1502dup) c.*3191_*3220dup (n.*3191_*3220dup) c.2938_2967dup (p.Lys989_Gly990insThrIleThrPheLeuTyrLysPheIleLys) c.745_774dup (p.Lys258_Gly259insThrIleThrPheLeuTyrLysPheIleLys) c.3661_3690dup (p.Lys1230_Gly1231insThrIleThrPheLeuTyrLysPheIleLys) c.3937_3966dup (p.Lys1322_Gly1323insThrIleThrPheLeuTyrLysPheIleLys) c.3754_3783dup (p.Lys1261_Gly1262insThrIleThrPheLeuTyrLysPheIleLys) c.3640_3669dup (p.Lys1223_Gly1224insThrIleThrPheLeuTyrLysPheIleLys) c.3031_3060dup (p.Lys1020_Gly1021insThrIleThrPheLeuTyrLysPheIleLys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.47806495_47806497del | CA658683258 | FBXO11,MSH6 | c.3548_3550del (p.Thr1183del) c.3461_3463del (p.Thr1154del) n.4519_4521del c.2279_2281del (p.Thr760del) c.3851_3853del (p.Thr1284del) c.1300_1302del (n.1300_1302del) c.2618_2620del (p.Thr873del) n.2696_2698del n.5003_5005del n.2440_2442del n.2107_2109del n.2509_2511del n.1254_1256del n.3139_3141del n.4252_4254del n.4514_4516del c.3845_3847del (p.Thr1282del) c.3455_3457del (p.Thr1152del) c.169+1699_169+1701del (n.169+1699_169+1701del) c.*124+1498_*124+1500del (n.*124+1498_*124+1500del) c.*3192_*3194del (n.*3192_*3194del) c.2939_2941del (p.Thr980del) c.746_748del (p.Thr249del) c.3662_3664del (p.Thr1221del) c.3938_3940del (p.Thr1313del) c.3755_3757del (p.Thr1252del) c.3641_3643del (p.Thr1214del) c.3032_3034del (p.Thr1011del) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.47806496_47806505dup | CA1139771732 | FBXO11,MSH6 | c.3549_3558dup (p.Leu1187TyrfsTer6) c.3462_3471dup (p.Leu1158TyrfsTer6) n.4520_4529dup c.2280_2289dup (p.Leu764TyrfsTer6) c.3852_3861dup (p.Leu1288TyrfsTer6) c.1301_1310dup (n.1301_1310dup) c.2619_2628dup (p.Leu877TyrfsTer6) n.2697_2706dup n.5004_5013dup n.2441_2450dup n.2108_2117dup n.2510_2519dup n.1255_1264dup n.3140_3149dup n.4244_4253dup n.4506_4515dup c.3846_3855dup (p.Leu1286TyrfsTer6) c.3456_3465dup (p.Leu1156TyrfsTer6) c.169+1691_169+1700dup (n.169+1691_169+1700dup) c.*124+1490_*124+1499dup (n.*124+1490_*124+1499dup) c.*3193_*3202dup (n.*3193_*3202dup) c.2940_2949dup (p.Leu984TyrfsTer6) c.747_756dup (p.Leu253TyrfsTer6) c.3663_3672dup (p.Leu1225TyrfsTer6) c.3939_3948dup (p.Leu1317TyrfsTer6) c.3756_3765dup (p.Leu1256TyrfsTer6) c.3642_3651dup (p.Leu1218TyrfsTer6) c.3033_3042dup (p.Leu1015TyrfsTer6) | |
| 2 | g.47806497_47806498dup | CA2580067394 | FBXO11,MSH6 | c.3550_3551dup (p.Thr1185LeufsTer?) c.3463_3464dup (p.Thr1156LeufsTer?) n.4521_4522dup c.2281_2282dup (p.Thr762LeufsTer?) c.3853_3854dup (p.Thr1286LeufsTer?) c.1302_1303dup (n.1302_1303dup) c.2620_2621dup (p.Thr875LeufsTer?) n.2698_2699dup n.5005_5006dup n.2442_2443dup n.2109_2110dup n.2511_2512dup n.1256_1257dup n.3141_3142dup n.4251_4252dup n.4513_4514dup c.3847_3848dup (p.Thr1284LeufsTer?) c.3457_3458dup (p.Thr1154LeufsTer?) c.169+1698_169+1699dup (n.169+1698_169+1699dup) c.*124+1497_*124+1498dup (n.*124+1497_*124+1498dup) c.*3194_*3195dup (n.*3194_*3195dup) c.2941_2942dup (p.Thr982LeufsTer?) c.748_749dup (p.Thr251LeufsTer?) c.3664_3665dup (p.Thr1223LeufsTer?) c.3940_3941dup (p.Thr1315LeufsTer?) c.3757_3758dup (p.Thr1254LeufsTer?) c.3643_3644dup (p.Thr1216LeufsTer?) c.3034_3035dup (p.Thr1013LeufsTer?) | ClinVar |
| 2 | g.47806497_47806498del | CA2580067395 | FBXO11,MSH6 | c.3550_3551del (p.Ile1184TyrfsTer5) c.3463_3464del (p.Ile1155TyrfsTer5) n.4521_4522del c.2281_2282del (p.Ile761TyrfsTer5) c.3853_3854del (p.Ile1285TyrfsTer5) c.1302_1303del (n.1302_1303del) c.2620_2621del (p.Ile874TyrfsTer5) n.2698_2699del n.5005_5006del n.2442_2443del n.2109_2110del n.2511_2512del n.1256_1257del n.3141_3142del n.4251_4252del n.4513_4514del c.3847_3848del (p.Ile1283TyrfsTer5) c.3457_3458del (p.Ile1153TyrfsTer5) c.169+1698_169+1699del (n.169+1698_169+1699del) c.*124+1497_*124+1498del (n.*124+1497_*124+1498del) c.*3194_*3195del (n.*3194_*3195del) c.2941_2942del (p.Ile981TyrfsTer5) c.748_749del (p.Ile250TyrfsTer5) c.3664_3665del (p.Ile1222TyrfsTer5) c.3940_3941del (p.Ile1314TyrfsTer5) c.3757_3758del (p.Ile1253TyrfsTer5) c.3643_3644del (p.Ile1215TyrfsTer5) c.3034_3035del (p.Ile1012TyrfsTer5) | ClinVar |
| 2 | g.47806496_47806499dup | CA645369293 | FBXO11,MSH6 | c.3549_3552dup (p.Thr1185TyrfsTer6) c.3462_3465dup (p.Thr1156TyrfsTer6) n.4520_4523dup c.2280_2283dup (p.Thr762TyrfsTer6) c.3852_3855dup (p.Thr1286TyrfsTer6) c.1301_1304dup (n.1301_1304dup) c.2619_2622dup (p.Thr875TyrfsTer6) n.2697_2700dup n.5004_5007dup n.2441_2444dup n.2108_2111dup n.2510_2513dup n.1255_1258dup n.3140_3143dup n.4249_4252dup n.4511_4514dup c.3846_3849dup (p.Thr1284TyrfsTer6) c.3456_3459dup (p.Thr1154TyrfsTer6) c.169+1696_169+1699dup (n.169+1696_169+1699dup) c.*124+1495_*124+1498dup (n.*124+1495_*124+1498dup) c.*3193_*3196dup (n.*3193_*3196dup) c.2940_2943dup (p.Thr982TyrfsTer6) c.747_750dup (p.Thr251TyrfsTer6) c.3663_3666dup (p.Thr1223TyrfsTer6) c.3939_3942dup (p.Thr1315TyrfsTer6) c.3756_3759dup (p.Thr1254TyrfsTer6) c.3642_3645dup (p.Thr1216TyrfsTer6) c.3033_3036dup (p.Thr1013TyrfsTer6) | ClinVar dbSNP |
| 2 | g.47806498_47806500dup | CA072217 | FBXO11,MSH6 | c.3551_3553dup (p.Ile1184_Thr1185insIle) c.3464_3466dup (p.Ile1155_Thr1156insIle) n.4522_4524dup c.2282_2284dup (p.Ile761_Thr762insIle) c.3854_3856dup (p.Ile1285_Thr1286insIle) c.1303_1305dup (n.1303_1305dup) c.2621_2623dup (p.Ile874_Thr875insIle) n.2699_2701dup n.5006_5008dup n.2443_2445dup n.2110_2112dup n.2512_2514dup n.1257_1259dup n.3142_3144dup n.4250_4252dup n.4512_4514dup c.3848_3850dup (p.Ile1283_Thr1284insIle) c.3458_3460dup (p.Ile1153_Thr1154insIle) c.169+1697_169+1699dup (n.169+1697_169+1699dup) c.*124+1496_*124+1498dup (n.*124+1496_*124+1498dup) c.*3195_*3197dup (n.*3195_*3197dup) c.2942_2944dup (p.Ile981_Thr982insIle) c.749_751dup (p.Ile250_Thr251insIle) c.3665_3667dup (p.Ile1222_Thr1223insIle) c.3941_3943dup (p.Ile1314_Thr1315insIle) c.3758_3760dup (p.Ile1253_Thr1254insIle) c.3644_3646dup (p.Ile1215_Thr1216insIle) c.3035_3037dup (p.Ile1012_Thr1013insIle) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.47806496_47806501delinsTATTAC | CA2496054147 | FBXO11,MSH6 | c.3549_3554delinsTATTAC (p.Thr1183=) c.3462_3467delinsTATTAC (p.Thr1154=) n.4520_4525delinsTATTAC c.2280_2285delinsTATTAC (p.Thr760=) c.3852_3857delinsTATTAC (p.Thr1284=) c.1301_1306delinsTATTAC (n.1301_1306delinsTATTAC) c.2619_2624delinsTATTAC (p.Thr873=) n.2697_2702delinsTATTAC n.5004_5009delinsTATTAC n.2441_2446delinsTATTAC n.2108_2113delinsTATTAC n.2510_2515delinsTATTAC n.1255_1260delinsTATTAC n.3140_3145delinsTATTAC n.4247_4252delinsGTAATA n.4509_4514delinsGTAATA c.3846_3851delinsTATTAC (p.Thr1282=) c.3456_3461delinsTATTAC (p.Thr1152=) c.169+1694_169+1699delinsGTAATA (n.169+1694_169+1699delinsGTAATA) c.*124+1493_*124+1498delinsGTAATA (n.*124+1493_*124+1498delinsGTAATA) c.*3193_*3198delinsTATTAC (n.*3193_*3198delinsTATTAC) c.2940_2945delinsTATTAC (p.Thr980=) c.747_752delinsTATTAC (p.Thr249=) c.3663_3668delinsTATTAC (p.Thr1221=) c.3939_3944delinsTATTAC (p.Thr1313=) c.3756_3761delinsTATTAC (p.Thr1252=) c.3642_3647delinsTATTAC (p.Thr1214=) c.3033_3038delinsTATTAC (p.Thr1011=) | |
| 2 | g.47806498_47806512del | CA2586964905 | FBXO11,MSH6 | c.3551_3565del (p.Ile1184_Tyr1188del) c.3464_3478del (p.Ile1155_Tyr1159del) n.4522_4536del c.2282_2296del (p.Ile761_Tyr765del) c.3854_3868del (p.Ile1285_Tyr1289del) c.1303_1317del (n.1303_1317del) c.2621_2635del (p.Ile874_Tyr878del) n.2699_2713del n.5006_5020del n.2443_2457del n.2110_2124del n.2512_2526del n.1257_1271del n.3142_3156del n.4238_4252del n.4500_4514del c.3848_3862del (p.Ile1283_Tyr1287del) c.3458_3472del (p.Ile1153_Tyr1157del) c.169+1685_169+1699del (n.169+1685_169+1699del) c.*124+1484_*124+1498del (n.*124+1484_*124+1498del) c.*3195_*3209del (n.*3195_*3209del) c.2942_2956del (p.Ile981_Tyr985del) c.749_763del (p.Ile250_Tyr254del) c.3665_3679del (p.Ile1222_Tyr1226del) c.3941_3955del (p.Ile1314_Tyr1318del) c.3758_3772del (p.Ile1253_Tyr1257del) c.3644_3658del (p.Ile1215_Tyr1219del) c.3035_3049del (p.Ile1012_Tyr1016del) | |
| 2 | g.47806496_47806517delinsTATTACGTTCCTCTATAAATTC | CA2496054148 | FBXO11,MSH6 | c.3549_3570delinsTATTACGTTCCTCTATAAATTC (p.Thr1183=) c.3462_3483delinsTATTACGTTCCTCTATAAATTC (p.Thr1154=) n.4520_4541delinsTATTACGTTCCTCTATAAATTC c.2280_2301delinsTATTACGTTCCTCTATAAATTC (p.Thr760=) c.3852_3873delinsTATTACGTTCCTCTATAAATTC (p.Thr1284=) c.1301_1322delinsTATTACGTTCCTCTATAAATTC (n.1301_1322delinsTATTACGTTCCTCTATAAATTC) c.2619_2640delinsTATTACGTTCCTCTATAAATTC (p.Thr873=) n.2697_2718delinsTATTACGTTCCTCTATAAATTC n.5004_5025delinsTATTACGTTCCTCTATAAATTC n.2441_2462delinsTATTACGTTCCTCTATAAATTC n.2108_2129delinsTATTACGTTCCTCTATAAATTC n.2510_2531delinsTATTACGTTCCTCTATAAATTC n.1255_1276delinsTATTACGTTCCTCTATAAATTC n.3140_3161delinsTATTACGTTCCTCTATAAATTC n.4231_4252delinsGAATTTATAGAGGAACGTAATA n.4493_4514delinsGAATTTATAGAGGAACGTAATA c.3846_3867delinsTATTACGTTCCTCTATAAATTC (p.Thr1282=) c.3456_3477delinsTATTACGTTCCTCTATAAATTC (p.Thr1152=) c.169+1678_169+1699delinsGAATTTATAGAGGAACGTAATA (n.169+1678_169+1699delinsGAATTTATAGAGGAACGTAATA) c.*124+1477_*124+1498delinsGAATTTATAGAGGAACGTAATA (n.*124+1477_*124+1498delinsGAATTTATAGAGGAACGTAATA) c.*3193_*3214delinsTATTACGTTCCTCTATAAATTC (n.*3193_*3214delinsTATTACGTTCCTCTATAAATTC) c.2940_2961delinsTATTACGTTCCTCTATAAATTC (p.Thr980=) c.747_768delinsTATTACGTTCCTCTATAAATTC (p.Thr249=) c.3663_3684delinsTATTACGTTCCTCTATAAATTC (p.Thr1221=) c.3939_3960delinsTATTACGTTCCTCTATAAATTC (p.Thr1313=) c.3756_3777delinsTATTACGTTCCTCTATAAATTC (p.Thr1252=) c.3642_3663delinsTATTACGTTCCTCTATAAATTC (p.Thr1214=) c.3033_3054delinsTATTACGTTCCTCTATAAATTC (p.Thr1011=) | |
| 2 | g.47806497A= | CA2496054151 | FBXO11,MSH6 | c.3550A= (p.Ile1184=) c.3463A= (p.Ile1155=) n.4521A= c.2281A= (p.Ile761=) c.3853A= (p.Ile1285=) c.1302A= (n.1302A=) c.2620A= (p.Ile874=) n.2698A= n.5005A= n.2442A= n.2109A= n.2511A= n.1256A= n.3141A= n.4251T= n.4513T= c.3847A= (p.Ile1283=) c.3457A= (p.Ile1153=) c.169+1698T= (n.169+1698T=) c.*124+1497T= (n.*124+1497T=) c.*3194A= (n.*3194A=) c.2941A= (p.Ile981=) c.748A= (p.Ile250=) c.3664A= (p.Ile1222=) c.3940A= (p.Ile1314=) c.3757A= (p.Ile1253=) c.3643A= (p.Ile1215=) c.3034A= (p.Ile1012=) | |
| 2 | g.47806497A>C | CA346761303 | FBXO11,MSH6 | c.3550A>C (p.Ile1184Leu) c.3463A>C (p.Ile1155Leu) n.4521A>C c.2281A>C (p.Ile761Leu) c.3853A>C (p.Ile1285Leu) c.1302A>C (n.1302A>C) c.2620A>C (p.Ile874Leu) n.2698A>C n.5005A>C n.2442A>C n.2109A>C n.2511A>C n.1256A>C n.3141A>C n.4251T>G n.4513T>G c.3847A>C (p.Ile1283Leu) c.3457A>C (p.Ile1153Leu) c.169+1698T>G (n.169+1698T>G) c.*124+1497T>G (n.*124+1497T>G) c.*3194A>C (n.*3194A>C) c.2941A>C (p.Ile981Leu) c.748A>C (p.Ile250Leu) c.3664A>C (p.Ile1222Leu) c.3940A>C (p.Ile1314Leu) c.3757A>C (p.Ile1253Leu) c.3643A>C (p.Ile1215Leu) c.3034A>C (p.Ile1012Leu) | |
| 2 | g.47806497A>G | CA014555 | FBXO11,MSH6 | c.3550A>G (p.Ile1184Val) c.3463A>G (p.Ile1155Val) n.4521A>G c.2281A>G (p.Ile761Val) c.3853A>G (p.Ile1285Val) c.1302A>G (n.1302A>G) c.2620A>G (p.Ile874Val) n.2698A>G n.5005A>G n.2442A>G n.2109A>G n.2511A>G n.1256A>G n.3141A>G n.4251T>C n.4513T>C c.3847A>G (p.Ile1283Val) c.3457A>G (p.Ile1153Val) c.169+1698T>C (n.169+1698T>C) c.*124+1497T>C (n.*124+1497T>C) c.*3194A>G (n.*3194A>G) c.2941A>G (p.Ile981Val) c.748A>G (p.Ile250Val) c.3664A>G (p.Ile1222Val) c.3940A>G (p.Ile1314Val) c.3757A>G (p.Ile1253Val) c.3643A>G (p.Ile1215Val) c.3034A>G (p.Ile1012Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.47806497A>T | CA346761302 | FBXO11,MSH6 | c.3550A>T (p.Ile1184Phe) c.3463A>T (p.Ile1155Phe) n.4521A>T c.2281A>T (p.Ile761Phe) c.3853A>T (p.Ile1285Phe) c.1302A>T (n.1302A>T) c.2620A>T (p.Ile874Phe) n.2698A>T n.5005A>T n.2442A>T n.2109A>T n.2511A>T n.1256A>T n.3141A>T n.4251T>A n.4513T>A c.3847A>T (p.Ile1283Phe) c.3457A>T (p.Ile1153Phe) c.169+1698T>A (n.169+1698T>A) c.*124+1497T>A (n.*124+1497T>A) c.*3194A>T (n.*3194A>T) c.2941A>T (p.Ile981Phe) c.748A>T (p.Ile250Phe) c.3664A>T (p.Ile1222Phe) c.3940A>T (p.Ile1314Phe) c.3757A>T (p.Ile1253Phe) c.3643A>T (p.Ile1215Phe) c.3034A>T (p.Ile1012Phe) | ClinVar |
| 2 | g.47806497_47806498delinsAT | CA2496054152 | FBXO11,MSH6 | c.3550_3551delinsAT (p.Ile1184=) c.3463_3464delinsAT (p.Ile1155=) n.4521_4522delinsAT c.2281_2282delinsAT (p.Ile761=) c.3853_3854delinsAT (p.Ile1285=) c.1302_1303delinsAT (n.1302_1303delinsAT) c.2620_2621delinsAT (p.Ile874=) n.2698_2699delinsAT n.5005_5006delinsAT n.2442_2443delinsAT n.2109_2110delinsAT n.2511_2512delinsAT n.1256_1257delinsAT n.3141_3142delinsAT n.4250_4251delinsAT n.4512_4513delinsAT c.3847_3848delinsAT (p.Ile1283=) c.3457_3458delinsAT (p.Ile1153=) c.169+1697_169+1698delinsAT (n.169+1697_169+1698delinsAT) c.*124+1496_*124+1497delinsAT (n.*124+1496_*124+1497delinsAT) c.*3194_*3195delinsAT (n.*3194_*3195delinsAT) c.2941_2942delinsAT (p.Ile981=) c.748_749delinsAT (p.Ile250=) c.3664_3665delinsAT (p.Ile1222=) c.3940_3941delinsAT (p.Ile1314=) c.3757_3758delinsAT (p.Ile1253=) c.3643_3644delinsAT (p.Ile1215=) c.3034_3035delinsAT (p.Ile1012=) | |
| 2 | g.47806497_47806500dup | CA014566 | FBXO11,MSH6 | c.3550_3553dup (p.Thr1185AsnfsTer6) c.3463_3466dup (p.Thr1156AsnfsTer6) n.4521_4524dup c.2281_2284dup (p.Thr762AsnfsTer6) c.3853_3856dup (p.Thr1286AsnfsTer6) c.1302_1305dup (n.1302_1305dup) c.2620_2623dup (p.Thr875AsnfsTer6) n.2698_2701dup n.5005_5008dup n.2442_2445dup n.2109_2112dup n.2511_2514dup n.1256_1259dup n.3141_3144dup n.4248_4251dup n.4510_4513dup c.3847_3850dup (p.Thr1284AsnfsTer6) c.3457_3460dup (p.Thr1154AsnfsTer6) c.169+1695_169+1698dup (n.169+1695_169+1698dup) c.*124+1494_*124+1497dup (n.*124+1494_*124+1497dup) c.*3194_*3197dup (n.*3194_*3197dup) c.2941_2944dup (p.Thr982AsnfsTer6) c.748_751dup (p.Thr251AsnfsTer6) c.3664_3667dup (p.Thr1223AsnfsTer6) c.3940_3943dup (p.Thr1315AsnfsTer6) c.3757_3760dup (p.Thr1254AsnfsTer6) c.3643_3646dup (p.Thr1216AsnfsTer6) c.3034_3037dup (p.Thr1013AsnfsTer6) | ClinVar dbSNP gnomAD v4 |
| 2 | g.47806497_47806501delinsTA | CA915943980 | FBXO11,MSH6 | c.3550_3554delinsTA (p.Ile1184Ter) c.3463_3467delinsTA (p.Ile1155Ter) n.4521_4525delinsTA c.2281_2285delinsTA (p.Ile761Ter) c.3853_3857delinsTA (p.Ile1285Ter) c.1302_1306delinsTA (n.1302_1306delinsTA) c.2620_2624delinsTA (p.Ile874Ter) n.2698_2702delinsTA n.5005_5009delinsTA n.2442_2446delinsTA n.2109_2113delinsTA n.2511_2515delinsTA n.1256_1260delinsTA n.3141_3145delinsTA n.4247_4251delinsTA n.4509_4513delinsTA c.3847_3851delinsTA (p.Ile1283Ter) c.3457_3461delinsTA (p.Ile1153Ter) c.169+1694_169+1698delinsTA (n.169+1694_169+1698delinsTA) c.*124+1493_*124+1497delinsTA (n.*124+1493_*124+1497delinsTA) c.*3194_*3198delinsTA (n.*3194_*3198delinsTA) c.2941_2945delinsTA (p.Ile981Ter) c.748_752delinsTA (p.Ile250Ter) c.3664_3668delinsTA (p.Ile1222Ter) c.3940_3944delinsTA (p.Ile1314Ter) c.3757_3761delinsTA (p.Ile1253Ter) c.3643_3647delinsTA (p.Ile1215Ter) c.3034_3038delinsTA (p.Ile1012Ter) | dbSNP |
| 2 | g.47806497_47806508dup | CA532705514 | FBXO11,MSH6 | c.3550_3561dup (p.Leu1187_Tyr1188insIleThrPheLeu) c.3463_3474dup (p.Leu1158_Tyr1159insIleThrPheLeu) n.4521_4532dup c.2281_2292dup (p.Leu764_Tyr765insIleThrPheLeu) c.3853_3864dup (p.Leu1288_Tyr1289insIleThrPheLeu) c.1302_1313dup (n.1302_1313dup) c.2620_2631dup (p.Leu877_Tyr878insIleThrPheLeu) n.2698_2709dup n.5005_5016dup n.2442_2453dup n.2109_2120dup n.2511_2522dup n.1256_1267dup n.3141_3152dup n.4240_4251dup n.4502_4513dup c.3847_3858dup (p.Leu1286_Tyr1287insIleThrPheLeu) c.3457_3468dup (p.Leu1156_Tyr1157insIleThrPheLeu) c.169+1687_169+1698dup (n.169+1687_169+1698dup) c.*124+1486_*124+1497dup (n.*124+1486_*124+1497dup) c.*3194_*3205dup (n.*3194_*3205dup) c.2941_2952dup (p.Leu984_Tyr985insIleThrPheLeu) c.748_759dup (p.Leu253_Tyr254insIleThrPheLeu) c.3664_3675dup (p.Leu1225_Tyr1226insIleThrPheLeu) c.3940_3951dup (p.Leu1317_Tyr1318insIleThrPheLeu) c.3757_3768dup (p.Leu1256_Tyr1257insIleThrPheLeu) c.3643_3654dup (p.Leu1218_Tyr1219insIleThrPheLeu) c.3034_3045dup (p.Leu1015_Tyr1016insIleThrPheLeu) | ClinVar dbSNP gnomAD v2 |
| 2 | g.47806501_47806521del | CA915943981 | FBXO11,MSH6 | c.3554_3574del (p.Thr1185_Ile1191del) c.3467_3487del (p.Thr1156_Ile1162del) n.4525_4545del c.2285_2305del (p.Thr762_Ile768del) c.3857_3877del (p.Thr1286_Ile1292del) c.1306_1326del (n.1306_1326del) c.2624_2644del (p.Thr875_Ile881del) n.2702_2722del n.5009_5029del n.2446_2466del n.2113_2133del n.2515_2535del n.1260_1280del n.3145_3165del n.4231_4251del n.4493_4513del c.3851_3871del (p.Thr1284_Ile1290del) c.3461_3481del (p.Thr1154_Ile1160del) c.169+1678_169+1698del (n.169+1678_169+1698del) c.*124+1477_*124+1497del (n.*124+1477_*124+1497del) c.*3198_*3218del (n.*3198_*3218del) c.2945_2965del (p.Thr982_Ile988del) c.752_772del (p.Thr251_Ile257del) c.3668_3688del (p.Thr1223_Ile1229del) c.3944_3964del (p.Thr1315_Ile1321del) c.3761_3781del (p.Thr1254_Ile1260del) c.3647_3667del (p.Thr1216_Ile1222del) c.3038_3058del (p.Thr1013_Ile1019del) | ClinVar dbSNP |
| 2 | g.47806498T>A | CA346761304 | FBXO11,MSH6 | c.3551T>A (p.Ile1184Asn) c.3464T>A (p.Ile1155Asn) n.4522T>A c.2282T>A (p.Ile761Asn) c.3854T>A (p.Ile1285Asn) c.1303T>A (n.1303T>A) c.2621T>A (p.Ile874Asn) n.2699T>A n.5006T>A n.2443T>A n.2110T>A n.2512T>A n.1257T>A n.3142T>A n.4250A>T n.4512A>T c.3848T>A (p.Ile1283Asn) c.3458T>A (p.Ile1153Asn) c.169+1697A>T (n.169+1697A>T) c.*124+1496A>T (n.*124+1496A>T) c.*3195T>A (n.*3195T>A) c.2942T>A (p.Ile981Asn) c.749T>A (p.Ile250Asn) c.3665T>A (p.Ile1222Asn) c.3941T>A (p.Ile1314Asn) c.3758T>A (p.Ile1253Asn) c.3644T>A (p.Ile1215Asn) c.3035T>A (p.Ile1012Asn) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.47806498T>C | CA346761305 | FBXO11,MSH6 | c.3551T>C (p.Ile1184Thr) c.3464T>C (p.Ile1155Thr) n.4522T>C c.2282T>C (p.Ile761Thr) c.3854T>C (p.Ile1285Thr) c.1303T>C (n.1303T>C) c.2621T>C (p.Ile874Thr) n.2699T>C n.5006T>C n.2443T>C n.2110T>C n.2512T>C n.1257T>C n.3142T>C n.4250A>G n.4512A>G c.3848T>C (p.Ile1283Thr) c.3458T>C (p.Ile1153Thr) c.169+1697A>G (n.169+1697A>G) c.*124+1496A>G (n.*124+1496A>G) c.*3195T>C (n.*3195T>C) c.2942T>C (p.Ile981Thr) c.749T>C (p.Ile250Thr) c.3665T>C (p.Ile1222Thr) c.3941T>C (p.Ile1314Thr) c.3758T>C (p.Ile1253Thr) c.3644T>C (p.Ile1215Thr) c.3035T>C (p.Ile1012Thr) | ClinVar dbSNP gnomAD v4 |
| 2 | g.47806498T>G | CA346761306 | FBXO11,MSH6 | c.3551T>G (p.Ile1184Ser) c.3464T>G (p.Ile1155Ser) n.4522T>G c.2282T>G (p.Ile761Ser) c.3854T>G (p.Ile1285Ser) c.1303T>G (n.1303T>G) c.2621T>G (p.Ile874Ser) n.2699T>G n.5006T>G n.2443T>G n.2110T>G n.2512T>G n.1257T>G n.3142T>G n.4250A>C n.4512A>C c.3848T>G (p.Ile1283Ser) c.3458T>G (p.Ile1153Ser) c.169+1697A>C (n.169+1697A>C) c.*124+1496A>C (n.*124+1496A>C) c.*3195T>G (n.*3195T>G) c.2942T>G (p.Ile981Ser) c.749T>G (p.Ile250Ser) c.3665T>G (p.Ile1222Ser) c.3941T>G (p.Ile1314Ser) c.3758T>G (p.Ile1253Ser) c.3644T>G (p.Ile1215Ser) c.3035T>G (p.Ile1012Ser) | dbSNP |
| 2 | g.47806498T= | CA2496054155 | FBXO11,MSH6 | c.3551T= (p.Ile1184=) c.3464T= (p.Ile1155=) n.4522T= c.2282T= (p.Ile761=) c.3854T= (p.Ile1285=) c.1303T= (n.1303T=) c.2621T= (p.Ile874=) n.2699T= n.5006T= n.2443T= n.2110T= n.2512T= n.1257T= n.3142T= n.4250A= n.4512A= c.3848T= (p.Ile1283=) c.3458T= (p.Ile1153=) c.169+1697A= (n.169+1697A=) c.*124+1496A= (n.*124+1496A=) c.*3195T= (n.*3195T=) c.2942T= (p.Ile981=) c.749T= (p.Ile250=) c.3665T= (p.Ile1222=) c.3941T= (p.Ile1314=) c.3758T= (p.Ile1253=) c.3644T= (p.Ile1215=) c.3035T= (p.Ile1012=) | |
| 2 | g.47806499del | CA16617712 | FBXO11,MSH6 | c.3552del (p.Thr1185ArgfsTer?) c.3465del (p.Thr1156ArgfsTer?) n.4523del c.2283del (p.Thr762ArgfsTer?) c.3855del (p.Thr1286ArgfsTer?) c.1304del (n.1304del) c.2622del (p.Thr875ArgfsTer?) n.2700del n.5007del n.2444del n.2111del n.2513del n.1258del n.3143del n.4250del n.4512del c.3849del (p.Thr1284ArgfsTer?) c.3459del (p.Thr1154ArgfsTer?) c.169+1697del (n.169+1697del) c.*124+1496del (n.*124+1496del) c.*3196del (n.*3196del) c.2943del (p.Thr982ArgfsTer?) c.750del (p.Thr251ArgfsTer?) c.3666del (p.Thr1223ArgfsTer?) c.3942del (p.Thr1315ArgfsTer?) c.3759del (p.Thr1254ArgfsTer?) c.3645del (p.Thr1216ArgfsTer?) c.3036del (p.Thr1013ArgfsTer?) | ClinVar dbSNP |
| 2 | g.47806498_47806501del | CA2695200632 | FBXO11,MSH6 | c.3551_3554del (p.Ile1184SerfsTer?) c.3464_3467del (p.Ile1155SerfsTer?) n.4522_4525del c.2282_2285del (p.Ile761SerfsTer?) c.3854_3857del (p.Ile1285SerfsTer?) c.1303_1306del (n.1303_1306del) c.2621_2624del (p.Ile874SerfsTer?) n.2699_2702del n.5006_5009del n.2443_2446del n.2110_2113del n.2512_2515del n.1257_1260del n.3142_3145del n.4247_4250del n.4509_4512del c.3848_3851del (p.Ile1283SerfsTer?) c.3458_3461del (p.Ile1153SerfsTer?) c.169+1694_169+1697del (n.169+1694_169+1697del) c.*124+1493_*124+1496del (n.*124+1493_*124+1496del) c.*3195_*3198del (n.*3195_*3198del) c.2942_2945del (p.Ile981SerfsTer?) c.749_752del (p.Ile250SerfsTer?) c.3665_3668del (p.Ile1222SerfsTer?) c.3941_3944del (p.Ile1314SerfsTer?) c.3758_3761del (p.Ile1253SerfsTer?) c.3644_3647del (p.Ile1215SerfsTer?) c.3035_3038del (p.Ile1012SerfsTer?) | ClinVar |
| 2 | g.47806499T>A | CA426122121 | FBXO11,MSH6 | c.3552T>A (p.Ile1184=) c.3465T>A (p.Ile1155=) n.4523T>A c.2283T>A (p.Ile761=) c.3855T>A (p.Ile1285=) c.1304T>A (n.1304T>A) c.2622T>A (p.Ile874=) n.2700T>A n.5007T>A n.2444T>A n.2111T>A n.2513T>A n.1258T>A n.3143T>A n.4249A>T n.4511A>T c.3849T>A (p.Ile1283=) c.3459T>A (p.Ile1153=) c.169+1696A>T (n.169+1696A>T) c.*124+1495A>T (n.*124+1495A>T) c.*3196T>A (n.*3196T>A) c.2943T>A (p.Ile981=) c.750T>A (p.Ile250=) c.3666T>A (p.Ile1222=) c.3942T>A (p.Ile1314=) c.3759T>A (p.Ile1253=) c.3645T>A (p.Ile1215=) c.3036T>A (p.Ile1012=) | dbSNP |
| 2 | g.47806499T>C | CA426122122 | FBXO11,MSH6 | c.3552T>C (p.Ile1184=) c.3465T>C (p.Ile1155=) n.4523T>C c.2283T>C (p.Ile761=) c.3855T>C (p.Ile1285=) c.1304T>C (n.1304T>C) c.2622T>C (p.Ile874=) n.2700T>C n.5007T>C n.2444T>C n.2111T>C n.2513T>C n.1258T>C n.3143T>C n.4249A>G n.4511A>G c.3849T>C (p.Ile1283=) c.3459T>C (p.Ile1153=) c.169+1696A>G (n.169+1696A>G) c.*124+1495A>G (n.*124+1495A>G) c.*3196T>C (n.*3196T>C) c.2943T>C (p.Ile981=) c.750T>C (p.Ile250=) c.3666T>C (p.Ile1222=) c.3942T>C (p.Ile1314=) c.3759T>C (p.Ile1253=) c.3645T>C (p.Ile1215=) c.3036T>C (p.Ile1012=) | ClinVar dbSNP gnomAD v4 |
| 2 | g.47806499T>G | CA346761307 | FBXO11,MSH6 | c.3552T>G (p.Ile1184Met) c.3465T>G (p.Ile1155Met) n.4523T>G c.2283T>G (p.Ile761Met) c.3855T>G (p.Ile1285Met) c.1304T>G (n.1304T>G) c.2622T>G (p.Ile874Met) n.2700T>G n.5007T>G n.2444T>G n.2111T>G n.2513T>G n.1258T>G n.3143T>G n.4249A>C n.4511A>C c.3849T>G (p.Ile1283Met) c.3459T>G (p.Ile1153Met) c.169+1696A>C (n.169+1696A>C) c.*124+1495A>C (n.*124+1495A>C) c.*3196T>G (n.*3196T>G) c.2943T>G (p.Ile981Met) c.750T>G (p.Ile250Met) c.3666T>G (p.Ile1222Met) c.3942T>G (p.Ile1314Met) c.3759T>G (p.Ile1253Met) c.3645T>G (p.Ile1215Met) c.3036T>G (p.Ile1012Met) | ClinVar |
| 2 | g.47806499T= | CA2496054156 | FBXO11,MSH6 | c.3552T= (p.Ile1184=) c.3465T= (p.Ile1155=) n.4523T= c.2283T= (p.Ile761=) c.3855T= (p.Ile1285=) c.1304T= (n.1304T=) c.2622T= (p.Ile874=) n.2700T= n.5007T= n.2444T= n.2111T= n.2513T= n.1258T= n.3143T= n.4249A= n.4511A= c.3849T= (p.Ile1283=) c.3459T= (p.Ile1153=) c.169+1696A= (n.169+1696A=) c.*124+1495A= (n.*124+1495A=) c.*3196T= (n.*3196T=) c.2943T= (p.Ile981=) c.750T= (p.Ile250=) c.3666T= (p.Ile1222=) c.3942T= (p.Ile1314=) c.3759T= (p.Ile1253=) c.3645T= (p.Ile1215=) c.3036T= (p.Ile1012=) | |
| 2 | g.47806499_47806500del | CA2695200633 | FBXO11,MSH6 | c.3552_3553del (p.Thr1185ValfsTer4) c.3465_3466del (p.Thr1156ValfsTer4) n.4523_4524del c.2283_2284del (p.Thr762ValfsTer4) c.3855_3856del (p.Thr1286ValfsTer4) c.1304_1305del (n.1304_1305del) c.2622_2623del (p.Thr875ValfsTer4) n.2700_2701del n.5007_5008del n.2444_2445del n.2111_2112del n.2513_2514del n.1258_1259del n.3143_3144del n.4248_4249del n.4510_4511del c.3849_3850del (p.Thr1284ValfsTer4) c.3459_3460del (p.Thr1154ValfsTer4) c.169+1695_169+1696del (n.169+1695_169+1696del) c.*124+1494_*124+1495del (n.*124+1494_*124+1495del) c.*3196_*3197del (n.*3196_*3197del) c.2943_2944del (p.Thr982ValfsTer4) c.750_751del (p.Thr251ValfsTer4) c.3666_3667del (p.Thr1223ValfsTer4) c.3942_3943del (p.Thr1315ValfsTer4) c.3759_3760del (p.Thr1254ValfsTer4) c.3645_3646del (p.Thr1216ValfsTer4) c.3036_3037del (p.Thr1013ValfsTer4) | ClinVar |
| 2 | g.47806499_47806501delinsAA | CA2580067401 | FBXO11,MSH6 | c.3552_3554delinsAA (p.Thr1185SerfsTer?) c.3465_3467delinsAA (p.Thr1156SerfsTer?) n.4523_4525delinsAA c.2283_2285delinsAA (p.Thr762SerfsTer?) c.3855_3857delinsAA (p.Thr1286SerfsTer?) c.1304_1306delinsAA (n.1304_1306delinsAA) c.2622_2624delinsAA (p.Thr875SerfsTer?) n.2700_2702delinsAA n.5007_5009delinsAA n.2444_2446delinsAA n.2111_2113delinsAA n.2513_2515delinsAA n.1258_1260delinsAA n.3143_3145delinsAA n.4247_4249delinsTT n.4509_4511delinsTT c.3849_3851delinsAA (p.Thr1284SerfsTer?) c.3459_3461delinsAA (p.Thr1154SerfsTer?) c.169+1694_169+1696delinsTT (n.169+1694_169+1696delinsTT) c.*124+1493_*124+1495delinsTT (n.*124+1493_*124+1495delinsTT) c.*3196_*3198delinsAA (n.*3196_*3198delinsAA) c.2943_2945delinsAA (p.Thr982SerfsTer?) c.750_752delinsAA (p.Thr251SerfsTer?) c.3666_3668delinsAA (p.Thr1223SerfsTer?) c.3942_3944delinsAA (p.Thr1315SerfsTer?) c.3759_3761delinsAA (p.Thr1254SerfsTer?) c.3645_3647delinsAA (p.Thr1216SerfsTer?) c.3036_3038delinsAA (p.Thr1013SerfsTer?) | ClinVar |
| 2 | g.47806499_47806501delinsAGGAACGTAA | CA2580067400 | FBXO11,MSH6 | c.3552_3554delinsAGGAACGTAA (p.Thr1185GlyfsTer3) c.3465_3467delinsAGGAACGTAA (p.Thr1156GlyfsTer3) n.4523_4525delinsAGGAACGTAA c.2283_2285delinsAGGAACGTAA (p.Thr762GlyfsTer3) c.3855_3857delinsAGGAACGTAA (p.Thr1286GlyfsTer3) c.1304_1306delinsAGGAACGTAA (n.1304_1306delinsAGGAACGTAA) c.2622_2624delinsAGGAACGTAA (p.Thr875GlyfsTer3) n.2700_2702delinsAGGAACGTAA n.5007_5009delinsAGGAACGTAA n.2444_2446delinsAGGAACGTAA n.2111_2113delinsAGGAACGTAA n.2513_2515delinsAGGAACGTAA n.1258_1260delinsAGGAACGTAA n.3143_3145delinsAGGAACGTAA n.4247_4249delinsTTACGTTCCT n.4509_4511delinsTTACGTTCCT c.3849_3851delinsAGGAACGTAA (p.Thr1284GlyfsTer3) c.3459_3461delinsAGGAACGTAA (p.Thr1154GlyfsTer3) c.169+1694_169+1696delinsTTACGTTCCT (n.169+1694_169+1696delinsTTACGTTCCT) c.*124+1493_*124+1495delinsTTACGTTCCT (n.*124+1493_*124+1495delinsTTACGTTCCT) c.*3196_*3198delinsAGGAACGTAA (n.*3196_*3198delinsAGGAACGTAA) c.2943_2945delinsAGGAACGTAA (p.Thr982GlyfsTer3) c.750_752delinsAGGAACGTAA (p.Thr251GlyfsTer3) c.3666_3668delinsAGGAACGTAA (p.Thr1223GlyfsTer3) c.3942_3944delinsAGGAACGTAA (p.Thr1315GlyfsTer3) c.3759_3761delinsAGGAACGTAA (p.Thr1254GlyfsTer3) c.3645_3647delinsAGGAACGTAA (p.Thr1216GlyfsTer3) c.3036_3038delinsAGGAACGTAA (p.Thr1013GlyfsTer3) | ClinVar |
| 2 | g.47806500_47806503dup | CA2580067398 | FBXO11,MSH6 | c.3553_3556dup (p.Phe1186TyrfsTer5) c.3466_3469dup (p.Phe1157TyrfsTer5) n.4524_4527dup c.2284_2287dup (p.Phe763TyrfsTer5) c.3856_3859dup (p.Phe1287TyrfsTer5) c.1305_1308dup (n.1305_1308dup) c.2623_2626dup (p.Phe876TyrfsTer5) n.2701_2704dup n.5008_5011dup n.2445_2448dup n.2112_2115dup n.2514_2517dup n.1259_1262dup n.3144_3147dup n.4246_4249dup n.4508_4511dup c.3850_3853dup (p.Phe1285TyrfsTer5) c.3460_3463dup (p.Phe1155TyrfsTer5) c.169+1693_169+1696dup (n.169+1693_169+1696dup) c.*124+1492_*124+1495dup (n.*124+1492_*124+1495dup) c.*3197_*3200dup (n.*3197_*3200dup) c.2944_2947dup (p.Phe983TyrfsTer5) c.751_754dup (p.Phe252TyrfsTer5) c.3667_3670dup (p.Phe1224TyrfsTer5) c.3943_3946dup (p.Phe1316TyrfsTer5) c.3760_3763dup (p.Phe1255TyrfsTer5) c.3646_3649dup (p.Phe1217TyrfsTer5) c.3037_3040dup (p.Phe1014TyrfsTer5) | ClinVar |
| 2 | g.47806500_47806507dup | CA16611082 | FBXO11,MSH6 | c.3553_3560dup (p.Tyr1188ArgfsTer?) c.3466_3473dup (p.Tyr1159ArgfsTer?) n.4524_4531dup c.2284_2291dup (p.Tyr765ArgfsTer?) c.3856_3863dup (p.Tyr1289ArgfsTer?) c.1305_1312dup (n.1305_1312dup) c.2623_2630dup (p.Tyr878ArgfsTer?) n.2701_2708dup n.5008_5015dup n.2445_2452dup n.2112_2119dup n.2514_2521dup n.1259_1266dup n.3144_3151dup n.4242_4249dup n.4504_4511dup c.3850_3857dup (p.Tyr1287ArgfsTer?) c.3460_3467dup (p.Tyr1157ArgfsTer?) c.169+1689_169+1696dup (n.169+1689_169+1696dup) c.*124+1488_*124+1495dup (n.*124+1488_*124+1495dup) c.*3197_*3204dup (n.*3197_*3204dup) c.2944_2951dup (p.Tyr985ArgfsTer?) c.751_758dup (p.Tyr254ArgfsTer?) c.3667_3674dup (p.Tyr1226ArgfsTer?) c.3943_3950dup (p.Tyr1318ArgfsTer?) c.3760_3767dup (p.Tyr1257ArgfsTer?) c.3646_3653dup (p.Tyr1219ArgfsTer?) c.3037_3044dup (p.Tyr1016ArgfsTer?) | ClinVar dbSNP |
| 2 | g.47806501_47806510del | CA2580067399 | FBXO11,MSH6 | c.3554_3563del (p.Thr1185IlefsTer?) c.3467_3476del (p.Thr1156IlefsTer?) n.4525_4534del c.2285_2294del (p.Thr762IlefsTer?) c.3857_3866del (p.Thr1286IlefsTer?) c.1306_1315del (n.1306_1315del) c.2624_2633del (p.Thr875IlefsTer?) n.2702_2711del n.5009_5018del n.2446_2455del n.2113_2122del n.2515_2524del n.1260_1269del n.3145_3154del n.4240_4249del n.4502_4511del c.3851_3860del (p.Thr1284IlefsTer?) c.3461_3470del (p.Thr1154IlefsTer?) c.169+1687_169+1696del (n.169+1687_169+1696del) c.*124+1486_*124+1495del (n.*124+1486_*124+1495del) c.*3198_*3207del (n.*3198_*3207del) c.2945_2954del (p.Thr982IlefsTer?) c.752_761del (p.Thr251IlefsTer?) c.3668_3677del (p.Thr1223IlefsTer?) c.3944_3953del (p.Thr1315IlefsTer?) c.3761_3770del (p.Thr1254IlefsTer?) c.3647_3656del (p.Thr1216IlefsTer?) c.3038_3047del (p.Thr1013IlefsTer?) | ClinVar |
| 2 | g.47806500A= | CA2496054160 | FBXO11,MSH6 | c.3553A= (p.Thr1185=) c.3466A= (p.Thr1156=) n.4524A= c.2284A= (p.Thr762=) c.3856A= (p.Thr1286=) c.1305A= (n.1305A=) c.2623A= (p.Thr875=) n.2701A= n.5008A= n.2445A= n.2112A= n.2514A= n.1259A= n.3144A= n.4248T= n.4510T= c.3850A= (p.Thr1284=) c.3460A= (p.Thr1154=) c.169+1695T= (n.169+1695T=) c.*124+1494T= (n.*124+1494T=) c.*3197A= (n.*3197A=) c.2944A= (p.Thr982=) c.751A= (p.Thr251=) c.3667A= (p.Thr1223=) c.3943A= (p.Thr1315=) c.3760A= (p.Thr1254=) c.3646A= (p.Thr1216=) c.3037A= (p.Thr1013=) | |
| 2 | g.47806500A>C | CA346761308 | FBXO11,MSH6 | c.3553A>C (p.Thr1185Pro) c.3466A>C (p.Thr1156Pro) n.4524A>C c.2284A>C (p.Thr762Pro) c.3856A>C (p.Thr1286Pro) c.1305A>C (n.1305A>C) c.2623A>C (p.Thr875Pro) n.2701A>C n.5008A>C n.2445A>C n.2112A>C n.2514A>C n.1259A>C n.3144A>C n.4248T>G n.4510T>G c.3850A>C (p.Thr1284Pro) c.3460A>C (p.Thr1154Pro) c.169+1695T>G (n.169+1695T>G) c.*124+1494T>G (n.*124+1494T>G) c.*3197A>C (n.*3197A>C) c.2944A>C (p.Thr982Pro) c.751A>C (p.Thr251Pro) c.3667A>C (p.Thr1223Pro) c.3943A>C (p.Thr1315Pro) c.3760A>C (p.Thr1254Pro) c.3646A>C (p.Thr1216Pro) c.3037A>C (p.Thr1013Pro) | dbSNP |
| 2 | g.47806500A>G | CA346761310 | FBXO11,MSH6 | c.3553A>G (p.Thr1185Ala) c.3466A>G (p.Thr1156Ala) n.4524A>G c.2284A>G (p.Thr762Ala) c.3856A>G (p.Thr1286Ala) c.1305A>G (n.1305A>G) c.2623A>G (p.Thr875Ala) n.2701A>G n.5008A>G n.2445A>G n.2112A>G n.2514A>G n.1259A>G n.3144A>G n.4248T>C n.4510T>C c.3850A>G (p.Thr1284Ala) c.3460A>G (p.Thr1154Ala) c.169+1695T>C (n.169+1695T>C) c.*124+1494T>C (n.*124+1494T>C) c.*3197A>G (n.*3197A>G) c.2944A>G (p.Thr982Ala) c.751A>G (p.Thr251Ala) c.3667A>G (p.Thr1223Ala) c.3943A>G (p.Thr1315Ala) c.3760A>G (p.Thr1254Ala) c.3646A>G (p.Thr1216Ala) c.3037A>G (p.Thr1013Ala) | ClinVar dbSNP gnomAD v4 |
| 2 | g.47806500A>T | CA346761309 | FBXO11,MSH6 | c.3553A>T (p.Thr1185Ser) c.3466A>T (p.Thr1156Ser) n.4524A>T c.2284A>T (p.Thr762Ser) c.3856A>T (p.Thr1286Ser) c.1305A>T (n.1305A>T) c.2623A>T (p.Thr875Ser) n.2701A>T n.5008A>T n.2445A>T n.2112A>T n.2514A>T n.1259A>T n.3144A>T n.4248T>A n.4510T>A c.3850A>T (p.Thr1284Ser) c.3460A>T (p.Thr1154Ser) c.169+1695T>A (n.169+1695T>A) c.*124+1494T>A (n.*124+1494T>A) c.*3197A>T (n.*3197A>T) c.2944A>T (p.Thr982Ser) c.751A>T (p.Thr251Ser) c.3667A>T (p.Thr1223Ser) c.3943A>T (p.Thr1315Ser) c.3760A>T (p.Thr1254Ser) c.3646A>T (p.Thr1216Ser) c.3037A>T (p.Thr1013Ser) | ClinVar dbSNP |
| 2 | g.47806500_47806501insGGA | CA16610984 | FBXO11,MSH6 | c.3553_3554insGGA (p.Ile1184_Thr1185insArg) c.3466_3467insGGA (p.Ile1155_Thr1156insArg) n.4524_4525insGGA c.2284_2285insGGA (p.Ile761_Thr762insArg) c.3856_3857insGGA (p.Ile1285_Thr1286insArg) c.1305_1306insGGA (n.1305_1306insGGA) c.2623_2624insGGA (p.Ile874_Thr875insArg) n.2701_2702insGGA n.5008_5009insGGA n.2445_2446insGGA n.2112_2113insGGA n.2514_2515insGGA n.1259_1260insGGA n.3144_3145insGGA n.4248_4249insCCT n.4510_4511insCCT c.3850_3851insGGA (p.Ile1283_Thr1284insArg) c.3460_3461insGGA (p.Ile1153_Thr1154insArg) c.169+1695_169+1696insCCT (n.169+1695_169+1696insCCT) c.*124+1494_*124+1495insCCT (n.*124+1494_*124+1495insCCT) c.*3197_*3198insGGA (n.*3197_*3198insGGA) c.2944_2945insGGA (p.Ile981_Thr982insArg) c.751_752insGGA (p.Ile250_Thr251insArg) c.3667_3668insGGA (p.Ile1222_Thr1223insArg) c.3943_3944insGGA (p.Ile1314_Thr1315insArg) c.3760_3761insGGA (p.Ile1253_Thr1254insArg) c.3646_3647insGGA (p.Ile1215_Thr1216insArg) c.3037_3038insGGA (p.Ile1012_Thr1013insArg) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.47806500dup | CA645372555 | FBXO11,MSH6 | c.3553dup (p.Thr1185AsnfsTer5) c.3466dup (p.Thr1156AsnfsTer5) n.4524dup c.2284dup (p.Thr762AsnfsTer5) c.3856dup (p.Thr1286AsnfsTer5) c.1305dup (n.1305dup) c.2623dup (p.Thr875AsnfsTer5) n.2701dup n.5008dup n.2445dup n.2112dup n.2514dup n.1259dup n.3144dup n.4248dup n.4510dup c.3850dup (p.Thr1284AsnfsTer5) c.3460dup (p.Thr1154AsnfsTer5) c.169+1695dup (n.169+1695dup) c.*124+1494dup (n.*124+1494dup) c.*3197dup (n.*3197dup) c.2944dup (p.Thr982AsnfsTer5) c.751dup (p.Thr251AsnfsTer5) c.3667dup (p.Thr1223AsnfsTer5) c.3943dup (p.Thr1315AsnfsTer5) c.3760dup (p.Thr1254AsnfsTer5) c.3646dup (p.Thr1216AsnfsTer5) c.3037dup (p.Thr1013AsnfsTer5) | ClinVar dbSNP |
| 2 | g.47806500_47806501delinsAC | CA2496054159 | FBXO11,MSH6 | c.3553_3554delinsAC (p.Thr1185=) c.3466_3467delinsAC (p.Thr1156=) n.4524_4525delinsAC c.2284_2285delinsAC (p.Thr762=) c.3856_3857delinsAC (p.Thr1286=) c.1305_1306delinsAC (n.1305_1306delinsAC) c.2623_2624delinsAC (p.Thr875=) n.2701_2702delinsAC n.5008_5009delinsAC n.2445_2446delinsAC n.2112_2113delinsAC n.2514_2515delinsAC n.1259_1260delinsAC n.3144_3145delinsAC n.4247_4248delinsGT n.4509_4510delinsGT c.3850_3851delinsAC (p.Thr1284=) c.3460_3461delinsAC (p.Thr1154=) c.169+1694_169+1695delinsGT (n.169+1694_169+1695delinsGT) c.*124+1493_*124+1494delinsGT (n.*124+1493_*124+1494delinsGT) c.*3197_*3198delinsAC (n.*3197_*3198delinsAC) c.2944_2945delinsAC (p.Thr982=) c.751_752delinsAC (p.Thr251=) c.3667_3668delinsAC (p.Thr1223=) c.3943_3944delinsAC (p.Thr1315=) c.3760_3761delinsAC (p.Thr1254=) c.3646_3647delinsAC (p.Thr1216=) c.3037_3038delinsAC (p.Thr1013=) | |
| 2 | g.47806500_47806501dup | CA2580067403 | FBXO11,MSH6 | c.3553_3554dup (p.Phe1186ArgfsTer?) c.3466_3467dup (p.Phe1157ArgfsTer?) n.4524_4525dup c.2284_2285dup (p.Phe763ArgfsTer?) c.3856_3857dup (p.Phe1287ArgfsTer?) c.1305_1306dup (n.1305_1306dup) c.2623_2624dup (p.Phe876ArgfsTer?) n.2701_2702dup n.5008_5009dup n.2445_2446dup n.2112_2113dup n.2514_2515dup n.1259_1260dup n.3144_3145dup n.4247_4248dup n.4509_4510dup c.3850_3851dup (p.Phe1285ArgfsTer?) c.3460_3461dup (p.Phe1155ArgfsTer?) c.169+1694_169+1695dup (n.169+1694_169+1695dup) c.*124+1493_*124+1494dup (n.*124+1493_*124+1494dup) c.*3197_*3198dup (n.*3197_*3198dup) c.2944_2945dup (p.Phe983ArgfsTer?) c.751_752dup (p.Phe252ArgfsTer?) c.3667_3668dup (p.Phe1224ArgfsTer?) c.3943_3944dup (p.Phe1316ArgfsTer?) c.3760_3761dup (p.Phe1255ArgfsTer?) c.3646_3647dup (p.Phe1217ArgfsTer?) c.3037_3038dup (p.Phe1014ArgfsTer?) | ClinVar |