Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.51789311A=CA2036172212SCN8Ac.4312A= (p.Ile1438=)
c.2376A=
c.4189A= (p.Ile1397=)
c.4345A= (p.Ile1449=)
12g.51789311A>CCA384908120SCN8Ac.4312A>C (p.Ile1438Leu)
c.2376A>C
c.4189A>C (p.Ile1397Leu)
c.4345A>C (p.Ile1449Leu)
12g.51789311A>GCA384908125SCN8Ac.4312A>G (p.Ile1438Val)
c.2376A>G
c.4189A>G (p.Ile1397Val)
c.4345A>G (p.Ile1449Val)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.51789311A>TCA384908123SCN8Ac.4312A>T (p.Ile1438Phe)
c.2376A>T
c.4189A>T (p.Ile1397Phe)
c.4345A>T (p.Ile1449Phe)
12g.51789312T>ACA384908129SCN8Ac.4313T>A (p.Ile1438Asn)
c.2377T>A
c.4190T>A (p.Ile1397Asn)
c.4346T>A (p.Ile1449Asn)
12g.51789312T>CCA384908132SCN8Ac.4313T>C (p.Ile1438Thr)
c.2377T>C
c.4190T>C (p.Ile1397Thr)
c.4346T>C (p.Ile1449Thr)
12g.51789312T>GCA384908134SCN8Ac.4313T>G (p.Ile1438Ser)
c.2377T>G
c.4190T>G (p.Ile1397Ser)
c.4346T>G (p.Ile1449Ser)
12g.51789313C>ACA479794932SCN8Ac.4314C>A (p.Ile1438=)
c.2378C>A
c.4191C>A (p.Ile1397=)
c.4347C>A (p.Ile1449=)
12g.51789313C=CA2036172216SCN8Ac.4314C= (p.Ile1438=)
c.2378C=
c.4191C= (p.Ile1397=)
c.4347C= (p.Ile1449=)
12g.51789313C>GCA384908137SCN8Ac.4314C>G (p.Ile1438Met)
c.2378C>G
c.4191C>G (p.Ile1397Met)
c.4347C>G (p.Ile1449Met)
12g.51789313C>TCA479794933SCN8Ac.4314C>T (p.Ile1438=)
c.2378C>T
c.4191C>T (p.Ile1397=)
c.4347C>T (p.Ile1449=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
12g.51789314T>ACA384908138SCN8Ac.4315T>A (p.Tyr1439Asn)
c.2379T>A
c.4192T>A (p.Tyr1398Asn)
c.4348T>A (p.Tyr1450Asn)
12g.51789314T>CCA384908139SCN8Ac.4315T>C (p.Tyr1439His)
c.2379T>C
c.4192T>C (p.Tyr1398His)
c.4348T>C (p.Tyr1450His)
12g.51789314T>GCA384908140SCN8Ac.4315T>G (p.Tyr1439Asp)
c.2379T>G
c.4192T>G (p.Tyr1398Asp)
c.4348T>G (p.Tyr1450Asp)
12g.51789315A>CCA384908142SCN8Ac.4316A>C (p.Tyr1439Ser)
c.2380A>C
c.4193A>C (p.Tyr1398Ser)
c.4349A>C (p.Tyr1450Ser)
12g.51789315A>GCA384908143SCN8Ac.4316A>G (p.Tyr1439Cys)
c.2380A>G
c.4193A>G (p.Tyr1398Cys)
c.4349A>G (p.Tyr1450Cys)
12g.51789315A>TCA384908145SCN8Ac.4316A>T (p.Tyr1439Phe)
c.2380A>T
c.4193A>T (p.Tyr1398Phe)
c.4349A>T (p.Tyr1450Phe)
12g.51789316C>ACA384908147SCN8Ac.4317C>A (p.Tyr1439Ter)
c.2381C>A
c.4194C>A (p.Tyr1398Ter)
c.4350C>A (p.Tyr1450Ter)
12g.51789316C>GCA384908148SCN8Ac.4317C>G (p.Tyr1439Ter)
c.2381C>G
c.4194C>G (p.Tyr1398Ter)
c.4350C>G (p.Tyr1450Ter)
12g.51789316C>TCA479794935SCN8Ac.4317C>T (p.Tyr1439=)
c.2381C>T
c.4194C>T (p.Tyr1398=)
c.4350C>T (p.Tyr1450=)
 gnomAD v4
12g.51789317A>CCA384908154SCN8Ac.4318A>C (p.Met1440Leu)
c.2382A>C
c.4195A>C (p.Met1399Leu)
c.4351A>C (p.Met1451Leu)
12g.51789317A>GCA384908162SCN8Ac.4318A>G (p.Met1440Val)
c.2382A>G
c.4195A>G (p.Met1399Val)
c.4351A>G (p.Met1451Val)
12g.51789317A>TCA384908151SCN8Ac.4318A>T (p.Met1440Leu)
c.2382A>T
c.4195A>T (p.Met1399Leu)
c.4351A>T (p.Met1451Leu)
12g.51789318T>ACA384908168SCN8Ac.4319T>A (p.Met1440Lys)
c.2383T>A
c.4196T>A (p.Met1399Lys)
c.4352T>A (p.Met1451Lys)
12g.51789318T>CCA384908165SCN8Ac.4319T>C (p.Met1440Thr)
c.2383T>C
c.4196T>C (p.Met1399Thr)
c.4352T>C (p.Met1451Thr)
12g.51789318T>GCA384908167SCN8Ac.4319T>G (p.Met1440Arg)
c.2383T>G
c.4196T>G (p.Met1399Arg)
c.4352T>G (p.Met1451Arg)
12g.51789319G>ACA384908171SCN8Ac.4320G>A (p.Met1440Ile)
c.2384G>A
c.4197G>A (p.Met1399Ile)
c.4353G>A (p.Met1451Ile)
12g.51789319G>CCA384908173SCN8Ac.4320G>C (p.Met1440Ile)
c.2384G>C
c.4197G>C (p.Met1399Ile)
c.4353G>C (p.Met1451Ile)
12g.51789319G>TCA384908175SCN8Ac.4320G>T (p.Met1440Ile)
c.2384G>T
c.4197G>T (p.Met1399Ile)
c.4353G>T (p.Met1451Ile)
 ClinVar
12g.51789320T>ACA384908178SCN8Ac.4321T>A (p.Tyr1441Asn)
c.2385T>A
c.4198T>A (p.Tyr1400Asn)
c.4354T>A (p.Tyr1452Asn)
12g.51789320T>CCA384908180SCN8Ac.4321T>C (p.Tyr1441His)
c.2385T>C
c.4198T>C (p.Tyr1400His)
c.4354T>C (p.Tyr1452His)
12g.51789320T>GCA384908182SCN8Ac.4321T>G (p.Tyr1441Asp)
c.2385T>G
c.4198T>G (p.Tyr1400Asp)
c.4354T>G (p.Tyr1452Asp)
12g.51789321A>CCA384908183SCN8Ac.4322A>C (p.Tyr1441Ser)
c.2386A>C
c.4199A>C (p.Tyr1400Ser)
c.4355A>C (p.Tyr1452Ser)
 COSMIC COSMIC
12g.51789321A>GCA384908185SCN8Ac.4322A>G (p.Tyr1441Cys)
c.2386A>G
c.4199A>G (p.Tyr1400Cys)
c.4355A>G (p.Tyr1452Cys)
12g.51789321A>TCA384908186SCN8Ac.4322A>T (p.Tyr1441Phe)
c.2386A>T
c.4199A>T (p.Tyr1400Phe)
c.4355A>T (p.Tyr1452Phe)
 COSMIC COSMIC
12g.51789322C>ACA384908190SCN8Ac.4323C>A (p.Tyr1441Ter)
c.2387C>A
c.4200C>A (p.Tyr1400Ter)
c.4356C>A (p.Tyr1452Ter)
12g.51789322C>GCA384908192SCN8Ac.4323C>G (p.Tyr1441Ter)
c.2387C>G
c.4200C>G (p.Tyr1400Ter)
c.4356C>G (p.Tyr1452Ter)
12g.51789322C>TCA479794938SCN8Ac.4323C>T (p.Tyr1441=)
c.2387C>T
c.4200C>T (p.Tyr1400=)
c.4356C>T (p.Tyr1452=)
12g.51789323A>CCA384908199SCN8Ac.4324A>C (p.Ile1442Leu)
c.2388A>C
c.4201A>C (p.Ile1401Leu)
c.4357A>C (p.Ile1453Leu)
12g.51789323A>GCA384908196SCN8Ac.4324A>G (p.Ile1442Val)
c.2388A>G
c.4201A>G (p.Ile1401Val)
c.4357A>G (p.Ile1453Val)
 gnomAD v4
12g.51789323A>TCA384908198SCN8Ac.4324A>T (p.Ile1442Phe)
c.2388A>T
c.4201A>T (p.Ile1401Phe)
c.4357A>T (p.Ile1453Phe)
12g.51789324T>ACA384908202SCN8Ac.4325T>A (p.Ile1442Asn)
c.2389T>A
c.4202T>A (p.Ile1401Asn)
c.4358T>A (p.Ile1453Asn)
12g.51789324T>CCA384908203SCN8Ac.4325T>C (p.Ile1442Thr)
c.2389T>C
c.4202T>C (p.Ile1401Thr)
c.4358T>C (p.Ile1453Thr)
 ClinVar dbSNP
12g.51789324T>GCA384908209SCN8Ac.4325T>G (p.Ile1442Ser)
c.2389T>G
c.4202T>G (p.Ile1401Ser)
c.4358T>G (p.Ile1453Ser)
12g.51789324T=CA2036172219SCN8Ac.4325T= (p.Ile1442=)
c.2389T=
c.4202T= (p.Ile1401=)
c.4358T= (p.Ile1453=)
12g.51789325C>ACA479794942SCN8Ac.4326C>A (p.Ile1442=)
c.2390C>A
c.4203C>A (p.Ile1401=)
c.4359C>A (p.Ile1453=)
12g.51789325C=CA2036172220SCN8Ac.4326C= (p.Ile1442=)
c.2390C=
c.4203C= (p.Ile1401=)
c.4359C= (p.Ile1453=)
12g.51789325C>GCA384908213SCN8Ac.4326C>G (p.Ile1442Met)
c.2390C>G
c.4203C>G (p.Ile1401Met)
c.4359C>G (p.Ile1453Met)
 dbSNP
12g.51789325C>TCA479794941SCN8Ac.4326C>T (p.Ile1442=)
c.2390C>T
c.4203C>T (p.Ile1401=)
c.4359C>T (p.Ile1453=)
12g.51789326T>ACA384908215SCN8Ac.4327T>A (p.Tyr1443Asn)
c.2391T>A
c.4204T>A (p.Tyr1402Asn)
c.4360T>A (p.Tyr1454Asn)
12g.51789326T>CCA384908217SCN8Ac.4327T>C (p.Tyr1443His)
c.2391T>C
c.4204T>C (p.Tyr1402His)
c.4360T>C (p.Tyr1454His)
12g.51789326T>GCA384908221SCN8Ac.4327T>G (p.Tyr1443Asp)
c.2391T>G
c.4204T>G (p.Tyr1402Asp)
c.4360T>G (p.Tyr1454Asp)
12g.51789327A>CCA384908225SCN8Ac.4328A>C (p.Tyr1443Ser)
c.2392A>C
c.4205A>C (p.Tyr1402Ser)
c.4361A>C (p.Tyr1454Ser)
12g.51789327A>GCA384908229SCN8Ac.4328A>G (p.Tyr1443Cys)
c.2392A>G
c.4205A>G (p.Tyr1402Cys)
c.4361A>G (p.Tyr1454Cys)
 ClinVar dbSNP
12g.51789327A>TCA384908232SCN8Ac.4328A>T (p.Tyr1443Phe)
c.2392A>T
c.4205A>T (p.Tyr1402Phe)
c.4361A>T (p.Tyr1454Phe)
12g.51789328T>ACA384908234SCN8Ac.4329T>A (p.Tyr1443Ter)
c.2393T>A
c.4206T>A (p.Tyr1402Ter)
c.4362T>A (p.Tyr1454Ter)
12g.51789328T>CCA479794944SCN8Ac.4329T>C (p.Tyr1443=)
c.2393T>C
c.4206T>C (p.Tyr1402=)
c.4362T>C (p.Tyr1454=)
 dbSNP
12g.51789328T>GCA384908237SCN8Ac.4329T>G (p.Tyr1443Ter)
c.2393T>G
c.4206T>G (p.Tyr1402Ter)
c.4362T>G (p.Tyr1454Ter)
12g.51789329T>ACA384908245SCN8Ac.4330T>A (p.Phe1444Ile)
c.2394T>A
c.4207T>A (p.Phe1403Ile)
c.4363T>A (p.Phe1455Ile)
12g.51789329T>CCA384908243SCN8Ac.4330T>C (p.Phe1444Leu)
c.2394T>C
c.4207T>C (p.Phe1403Leu)
c.4363T>C (p.Phe1455Leu)
12g.51789329T>GCA384908241SCN8Ac.4330T>G (p.Phe1444Val)
c.2394T>G
c.4207T>G (p.Phe1403Val)
c.4363T>G (p.Phe1455Val)
12g.51789330T>ACA384908253SCN8Ac.4331T>A (p.Phe1444Tyr)
c.2395T>A
c.4208T>A (p.Phe1403Tyr)
c.4364T>A (p.Phe1455Tyr)
12g.51789330T>CCA384908248SCN8Ac.4331T>C (p.Phe1444Ser)
c.2395T>C
c.4208T>C (p.Phe1403Ser)
c.4364T>C (p.Phe1455Ser)
12g.51789330T>GCA384908249SCN8Ac.4331T>G (p.Phe1444Cys)
c.2395T>G
c.4208T>G (p.Phe1403Cys)
c.4364T>G (p.Phe1455Cys)
12g.51789331T>ACA384908257SCN8Ac.4332T>A (p.Phe1444Leu)
c.2396T>A
c.4209T>A (p.Phe1403Leu)
c.4365T>A (p.Phe1455Leu)
12g.51789331T>CCA6571797SCN8Ac.4332T>C (p.Phe1444=)
c.2396T>C
c.4209T>C (p.Phe1403=)
c.4365T>C (p.Phe1455=)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.51789331T>GCA384908263SCN8Ac.4332T>G (p.Phe1444Leu)
c.2396T>G
c.4209T>G (p.Phe1403Leu)
c.4365T>G (p.Phe1455Leu)
12g.51789331T=CA2036172223SCN8Ac.4332T= (p.Phe1444=)
c.2396T=
c.4209T= (p.Phe1403=)
c.4365T= (p.Phe1455=)
12g.51789332G>ACA384908272SCN8Ac.4333G>A (p.Val1445Ile)
c.2397G>A
c.4210G>A (p.Val1404Ile)
c.4366G>A (p.Val1456Ile)
 COSMIC COSMIC
12g.51789332G>CCA384908269SCN8Ac.4333G>C (p.Val1445Leu)
c.2397G>C
c.4210G>C (p.Val1404Leu)
c.4366G>C (p.Val1456Leu)
12g.51789332G>TCA384908266SCN8Ac.4333G>T (p.Val1445Phe)
c.2397G>T
c.4210G>T (p.Val1404Phe)
c.4366G>T (p.Val1456Phe)
12g.51789333T>ACA384908276SCN8Ac.4334T>A (p.Val1445Asp)
c.2398T>A
c.4211T>A (p.Val1404Asp)
c.4367T>A (p.Val1456Asp)
12g.51789333T>CCA384908279SCN8Ac.4334T>C (p.Val1445Ala)
c.2398T>C
c.4211T>C (p.Val1404Ala)
c.4367T>C (p.Val1456Ala)
12g.51789333T>GCA384908281SCN8Ac.4334T>G (p.Val1445Gly)
c.2398T>G
c.4211T>G (p.Val1404Gly)
c.4367T>G (p.Val1456Gly)
12g.51789334C>ACA479794947SCN8Ac.4335C>A (p.Val1445=)
c.2399C>A
c.4212C>A (p.Val1404=)
c.4368C>A (p.Val1456=)
12g.51789334C>GCA479794949SCN8Ac.4335C>G (p.Val1445=)
c.2399C>G
c.4212C>G (p.Val1404=)
c.4368C>G (p.Val1456=)
12g.51789334C>TCA479794950SCN8Ac.4335C>T (p.Val1445=)
c.2399C>T
c.4212C>T (p.Val1404=)
c.4368C>T (p.Val1456=)
12g.51789335A>CCA384908286SCN8Ac.4336A>C (p.Ile1446Leu)
c.2400A>C
c.4213A>C (p.Ile1405Leu)
c.4369A>C (p.Ile1457Leu)
12g.51789335A>GCA384908287SCN8Ac.4336A>G (p.Ile1446Val)
c.2400A>G
c.4213A>G (p.Ile1405Val)
c.4369A>G (p.Ile1457Val)
12g.51789335A>TCA384908288SCN8Ac.4336A>T (p.Ile1446Phe)
c.2400A>T
c.4213A>T (p.Ile1405Phe)
c.4369A>T (p.Ile1457Phe)
12g.51789336T>ACA384908291SCN8Ac.4337T>A (p.Ile1446Asn)
c.2401T>A
c.4214T>A (p.Ile1405Asn)
c.4370T>A (p.Ile1457Asn)
12g.51789336T>CCA384908294SCN8Ac.4337T>C (p.Ile1446Thr)
c.2401T>C
c.4214T>C (p.Ile1405Thr)
c.4370T>C (p.Ile1457Thr)
12g.51789336T>GCA384908293SCN8Ac.4337T>G (p.Ile1446Ser)
c.2401T>G
c.4214T>G (p.Ile1405Ser)
c.4370T>G (p.Ile1457Ser)
12g.51789337C>ACA479794953SCN8Ac.4338C>A (p.Ile1446=)
c.2402C>A
c.4215C>A (p.Ile1405=)
c.4371C>A (p.Ile1457=)
12g.51789337C>GCA384908295SCN8Ac.4338C>G (p.Ile1446Met)
c.2402C>G
c.4215C>G (p.Ile1405Met)
c.4371C>G (p.Ile1457Met)
12g.51789337C>TCA479794954SCN8Ac.4338C>T (p.Ile1446=)
c.2402C>T
c.4215C>T (p.Ile1405=)
c.4371C>T (p.Ile1457=)
 ClinVar
12g.51789338T>ACA384908296SCN8Ac.4339T>A (p.Phe1447Ile)
c.2403T>A
c.4216T>A (p.Phe1406Ile)
c.4372T>A (p.Phe1458Ile)
12g.51789338T>CCA384908297SCN8Ac.4339T>C (p.Phe1447Leu)
c.2403T>C
c.4216T>C (p.Phe1406Leu)
c.4372T>C (p.Phe1458Leu)
12g.51789338T>GCA384908299SCN8Ac.4339T>G (p.Phe1447Val)
c.2403T>G
c.4216T>G (p.Phe1406Val)
c.4372T>G (p.Phe1458Val)
12g.51789339T>ACA384908302SCN8Ac.4340T>A (p.Phe1447Tyr)
c.2404T>A
c.4217T>A (p.Phe1406Tyr)
c.4373T>A (p.Phe1458Tyr)
12g.51789339T>CCA384908304SCN8Ac.4340T>C (p.Phe1447Ser)
c.2404T>C
c.4217T>C (p.Phe1406Ser)
c.4373T>C (p.Phe1458Ser)
12g.51789339T>GCA384908307SCN8Ac.4340T>G (p.Phe1447Cys)
c.2404T>G
c.4217T>G (p.Phe1406Cys)
c.4373T>G (p.Phe1458Cys)
12g.51789340C>ACA384908308SCN8Ac.4341C>A (p.Phe1447Leu)
c.2405C>A
c.4218C>A (p.Phe1406Leu)
c.4374C>A (p.Phe1458Leu)
12g.51789340C=CA2036172228SCN8Ac.4341C= (p.Phe1447=)
c.2405C=
c.4218C= (p.Phe1406=)
c.4374C= (p.Phe1458=)
12g.51789340C>GCA384908309SCN8Ac.4341C>G (p.Phe1447Leu)
c.2405C>G
c.4218C>G (p.Phe1406Leu)
c.4374C>G (p.Phe1458Leu)
12g.51789340C>TCA479794959SCN8Ac.4341C>T (p.Phe1447=)
c.2405C>T
c.4218C>T (p.Phe1406=)
c.4374C>T (p.Phe1458=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
12g.51789341A=CA2036172235SCN8Ac.4342A= (p.Ile1448=)
c.2406A=
c.4219A= (p.Ile1407=)
c.4375A= (p.Ile1459=)
12g.51789341A>CCA384908310SCN8Ac.4342A>C (p.Ile1448Leu)
c.2406A>C
c.4219A>C (p.Ile1407Leu)
c.4375A>C (p.Ile1459Leu)
 ClinVar dbSNP
12g.51789341A>GCA384908312SCN8Ac.4342A>G (p.Ile1448Val)
c.2406A>G
c.4219A>G (p.Ile1407Val)
c.4375A>G (p.Ile1459Val)
 ClinVar dbSNP gnomAD v4
12g.51789341A>TCA384908314SCN8Ac.4342A>T (p.Ile1448Phe)
c.2406A>T
c.4219A>T (p.Ile1407Phe)
c.4375A>T (p.Ile1459Phe)
12g.51789342T>ACA384908318SCN8Ac.4343T>A (p.Ile1448Asn)
c.2407T>A
c.4220T>A (p.Ile1407Asn)
c.4376T>A (p.Ile1459Asn)
12g.51789342T>CCA384908319SCN8Ac.4343T>C (p.Ile1448Thr)
c.2407T>C
c.4220T>C (p.Ile1407Thr)
c.4376T>C (p.Ile1459Thr)
 gnomAD v4
12g.51789342T>GCA384908317SCN8Ac.4343T>G (p.Ile1448Ser)
c.2407T>G
c.4220T>G (p.Ile1407Ser)
c.4376T>G (p.Ile1459Ser)
12g.51789343C>ACA479794960SCN8Ac.4344C>A (p.Ile1448=)
c.2408C>A
c.4221C>A (p.Ile1407=)
c.4377C>A (p.Ile1459=)
12g.51789343C>GCA384908321SCN8Ac.4344C>G (p.Ile1448Met)
c.2408C>G
c.4221C>G (p.Ile1407Met)
c.4377C>G (p.Ile1459Met)
12g.51789343C>TCA479794962SCN8Ac.4344C>T (p.Ile1448=)
c.2408C>T
c.4221C>T (p.Ile1407=)
c.4377C>T (p.Ile1459=)
 ClinVar dbSNP
12g.51789344A>CCA384908329SCN8Ac.4345A>C (p.Ile1449Leu)
c.2409A>C
c.4222A>C (p.Ile1408Leu)
c.4378A>C (p.Ile1460Leu)
12g.51789344A>GCA384908323SCN8Ac.4345A>G (p.Ile1449Val)
c.2409A>G
c.4222A>G (p.Ile1408Val)
c.4378A>G (p.Ile1460Val)
12g.51789344A>TCA384908326SCN8Ac.4345A>T (p.Ile1449Phe)
c.2409A>T
c.4222A>T (p.Ile1408Phe)
c.4378A>T (p.Ile1460Phe)
12g.51789345T>ACA384908330SCN8Ac.4346T>A (p.Ile1449Asn)
c.2410T>A
c.4223T>A (p.Ile1408Asn)
c.4379T>A (p.Ile1460Asn)
12g.51789345T>CCA384908333SCN8Ac.4346T>C (p.Ile1449Thr)
c.2410T>C
c.4223T>C (p.Ile1408Thr)
c.4379T>C (p.Ile1460Thr)
12g.51789345T>GCA384908334SCN8Ac.4346T>G (p.Ile1449Ser)
c.2410T>G
c.4223T>G (p.Ile1408Ser)
c.4379T>G (p.Ile1460Ser)
12g.51789346C>ACA479794965SCN8Ac.4347C>A (p.Ile1449=)
c.2411C>A
c.4224C>A (p.Ile1408=)
c.4380C>A (p.Ile1460=)
12g.51789346C>GCA384908337SCN8Ac.4347C>G (p.Ile1449Met)
c.2411C>G
c.4224C>G (p.Ile1408Met)
c.4380C>G (p.Ile1460Met)
12g.51789346C>TCA479794964SCN8Ac.4347C>T (p.Ile1449=)
c.2411C>T
c.4224C>T (p.Ile1408=)
c.4380C>T (p.Ile1460=)
12g.51789347T>ACA384908343SCN8Ac.4348T>A (p.Phe1450Ile)
c.2412T>A
c.4225T>A (p.Phe1409Ile)
c.4381T>A (p.Phe1461Ile)
12g.51789347T>CCA384908345SCN8Ac.4348T>C (p.Phe1450Leu)
c.2412T>C
c.4225T>C (p.Phe1409Leu)
c.4381T>C (p.Phe1461Leu)
12g.51789347T>GCA384908348SCN8Ac.4348T>G (p.Phe1450Val)
c.2412T>G
c.4225T>G (p.Phe1409Val)
c.4381T>G (p.Phe1461Val)
12g.51789348T>ACA384908352SCN8Ac.4349T>A (p.Phe1450Tyr)
c.2413T>A
c.4226T>A (p.Phe1409Tyr)
c.4382T>A (p.Phe1461Tyr)
12g.51789348T>CCA384908356SCN8Ac.4349T>C (p.Phe1450Ser)
c.2413T>C
c.4226T>C (p.Phe1409Ser)
c.4382T>C (p.Phe1461Ser)
12g.51789348T>GCA384908359SCN8Ac.4349T>G (p.Phe1450Cys)
c.2413T>G
c.4226T>G (p.Phe1409Cys)
c.4382T>G (p.Phe1461Cys)
12g.51789349C>ACA384908367SCN8Ac.4350C>A (p.Phe1450Leu)
c.2414C>A
c.4227C>A (p.Phe1409Leu)
c.4383C>A (p.Phe1461Leu)
12g.51789349C=CA2036172239SCN8Ac.4350C= (p.Phe1450=)
c.2414C=
c.4227C= (p.Phe1409=)
c.4383C= (p.Phe1461=)
12g.51789349C>GCA384908364SCN8Ac.4350C>G (p.Phe1450Leu)
c.2414C>G
c.4227C>G (p.Phe1409Leu)
c.4383C>G (p.Phe1461Leu)
12g.51789349C>TCA6571798SCN8Ac.4350C>T (p.Phe1450=)
c.2414C>T
c.4227C>T (p.Phe1409=)
c.4383C>T (p.Phe1461=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.51789350G>ACA278916SCN8Ac.4351G>A (p.Gly1451Ser)
c.2415G>A
c.4228G>A (p.Gly1410Ser)
c.4384G>A (p.Gly1462Ser)
 ClinVar dbSNP
12g.51789350G>CCA384908375SCN8Ac.4351G>C (p.Gly1451Arg)
c.2415G>C
c.4228G>C (p.Gly1410Arg)
c.4384G>C (p.Gly1462Arg)
12g.51789350G=CA2036172245SCN8Ac.4351G= (p.Gly1451=)
c.2415G=
c.4228G= (p.Gly1410=)
c.4384G= (p.Gly1462=)
12g.51789350G>TCA384908379SCN8Ac.4351G>T (p.Gly1451Cys)
c.2415G>T
c.4228G>T (p.Gly1410Cys)
c.4384G>T (p.Gly1462Cys)
12g.51789351G>ACA384908383SCN8Ac.4352G>A (p.Gly1451Asp)
c.2416G>A
c.4229G>A (p.Gly1410Asp)
c.4385G>A (p.Gly1462Asp)
12g.51789351G>CCA384908386SCN8Ac.4352G>C (p.Gly1451Ala)
c.2416G>C
c.4229G>C (p.Gly1410Ala)
c.4385G>C (p.Gly1462Ala)
12g.51789351G>TCA384908388SCN8Ac.4352G>T (p.Gly1451Val)
c.2416G>T
c.4229G>T (p.Gly1410Val)
c.4385G>T (p.Gly1462Val)
12g.51789352C>ACA479794969SCN8Ac.4353C>A (p.Gly1451=)
c.2417C>A
c.4230C>A (p.Gly1410=)
c.4386C>A (p.Gly1462=)
12g.51789352C>GCA479794970SCN8Ac.4353C>G (p.Gly1451=)
c.2417C>G
c.4230C>G (p.Gly1410=)
c.4386C>G (p.Gly1462=)
12g.51789352C>TCA479794971SCN8Ac.4353C>T (p.Gly1451=)
c.2417C>T
c.4230C>T (p.Gly1410=)
c.4386C>T (p.Gly1462=)
 ClinVar
12g.51789353T>ACA384908393SCN8Ac.4354T>A (p.Ser1452Thr)
c.2418T>A
c.4231T>A (p.Ser1411Thr)
c.4387T>A (p.Ser1463Thr)
12g.51789353T>CCA384908394SCN8Ac.4354T>C (p.Ser1452Pro)
c.2418T>C
c.4231T>C (p.Ser1411Pro)
c.4387T>C (p.Ser1463Pro)
12g.51789353T>GCA384908397SCN8Ac.4354T>G (p.Ser1452Ala)
c.2418T>G
c.4231T>G (p.Ser1411Ala)
c.4387T>G (p.Ser1463Ala)
12g.51789354C>ACA384908400SCN8Ac.4355C>A (p.Ser1452Tyr)
c.2419C>A
c.4232C>A (p.Ser1411Tyr)
c.4388C>A (p.Ser1463Tyr)
12g.51789354C>GCA384908403SCN8Ac.4355C>G (p.Ser1452Cys)
c.2419C>G
c.4232C>G (p.Ser1411Cys)
c.4388C>G (p.Ser1463Cys)
12g.51789354C>TCA384908405SCN8Ac.4355C>T (p.Ser1452Phe)
c.2419C>T
c.4232C>T (p.Ser1411Phe)
c.4388C>T (p.Ser1463Phe)
12g.51789355C>ACA479794975SCN8Ac.4356C>A (p.Ser1452=)
c.2420C>A
c.4233C>A (p.Ser1411=)
c.4389C>A (p.Ser1463=)
12g.51789355C>GCA479794976SCN8Ac.4356C>G (p.Ser1452=)
c.2420C>G
c.4233C>G (p.Ser1411=)
c.4389C>G (p.Ser1463=)
 gnomAD v4
12g.51789355C>TCA479794977SCN8Ac.4356C>T (p.Ser1452=)
c.2420C>T
c.4233C>T (p.Ser1411=)
c.4389C>T (p.Ser1463=)
12g.51789359_51789361delCA2580615201SCN8Ac.4360_4362del (p.Phe1454del)
c.2424_2426del
c.4237_4239del (p.Phe1413del)
c.4393_4395del (p.Phe1465del)
 ClinVar dbSNP
12g.51789356T>ACA384908415SCN8Ac.4357T>A (p.Phe1453Ile)
c.2421T>A
c.4234T>A (p.Phe1412Ile)
c.4390T>A (p.Phe1464Ile)
12g.51789356T>CCA384908411SCN8Ac.4357T>C (p.Phe1453Leu)
c.2421T>C
c.4234T>C (p.Phe1412Leu)
c.4390T>C (p.Phe1464Leu)
12g.51789356T>GCA384908409SCN8Ac.4357T>G (p.Phe1453Val)
c.2421T>G
c.4234T>G (p.Phe1412Val)
c.4390T>G (p.Phe1464Val)
12g.51789357T>ACA384908419SCN8Ac.4358T>A (p.Phe1453Tyr)
c.2422T>A
c.4235T>A (p.Phe1412Tyr)
c.4391T>A (p.Phe1464Tyr)
12g.51789357T>CCA384908422SCN8Ac.4358T>C (p.Phe1453Ser)
c.2422T>C
c.4235T>C (p.Phe1412Ser)
c.4391T>C (p.Phe1464Ser)
12g.51789357T>GCA384908425SCN8Ac.4358T>G (p.Phe1453Cys)
c.2422T>G
c.4235T>G (p.Phe1412Cys)
c.4391T>G (p.Phe1464Cys)
12g.51789358C>ACA384908428SCN8Ac.4359C>A (p.Phe1453Leu)
c.2423C>A
c.4236C>A (p.Phe1412Leu)
c.4392C>A (p.Phe1464Leu)
12g.51789358C=CA2036172253SCN8Ac.4359C= (p.Phe1453=)
c.2423C=
c.4236C= (p.Phe1412=)
c.4392C= (p.Phe1464=)
12g.51789358C>GCA384908430SCN8Ac.4359C>G (p.Phe1453Leu)
c.2423C>G
c.4236C>G (p.Phe1412Leu)
c.4392C>G (p.Phe1464Leu)
12g.51789358C>TCA6571799SCN8Ac.4359C>T (p.Phe1453=)
c.2423C>T
c.4236C>T (p.Phe1412=)
c.4392C>T (p.Phe1464=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12g.51789360_51789366dupCA645591094SCN8Ac.4361_4367dup (p.Asn1457HisfsTer11)
c.2425_2431dup
c.4238_4244dup (p.Asn1416HisfsTer11)
c.4394_4400dup (p.Asn1468HisfsTer11)
 COSMIC COSMIC
12g.51789359T>ACA384908441SCN8Ac.4360T>A (p.Phe1454Ile)
c.2424T>A
c.4237T>A (p.Phe1413Ile)
c.4393T>A (p.Phe1465Ile)
12g.51789359T>CCA384908436SCN8Ac.4360T>C (p.Phe1454Leu)
c.2424T>C
c.4237T>C (p.Phe1413Leu)
c.4393T>C (p.Phe1465Leu)
12g.51789359T>GCA384908438SCN8Ac.4360T>G (p.Phe1454Val)
c.2424T>G
c.4237T>G (p.Phe1413Val)
c.4393T>G (p.Phe1465Val)
12g.51789360T>ACA384908445SCN8Ac.4361T>A (p.Phe1454Tyr)
c.2425T>A
c.4238T>A (p.Phe1413Tyr)
c.4394T>A (p.Phe1465Tyr)
12g.51789360T>CCA384908448SCN8Ac.4361T>C (p.Phe1454Ser)
c.2425T>C
c.4238T>C (p.Phe1413Ser)
c.4394T>C (p.Phe1465Ser)
12g.51789360T>GCA384908450SCN8Ac.4361T>G (p.Phe1454Cys)
c.2425T>G
c.4238T>G (p.Phe1413Cys)
c.4394T>G (p.Phe1465Cys)
12g.51789361C>ACA384908453SCN8Ac.4362C>A (p.Phe1454Leu)
c.2426C>A
c.4239C>A (p.Phe1413Leu)
c.4395C>A (p.Phe1465Leu)
12g.51789361C>GCA384908456SCN8Ac.4362C>G (p.Phe1454Leu)
c.2426C>G
c.4239C>G (p.Phe1413Leu)
c.4395C>G (p.Phe1465Leu)
12g.51789361C>TCA479794982SCN8Ac.4362C>T (p.Phe1454=)
c.2426C>T
c.4239C>T (p.Phe1413=)
c.4395C>T (p.Phe1465=)
 gnomAD v4
12g.51789362A>CCA384908462SCN8Ac.4363A>C (p.Thr1455Pro)
c.2427A>C
c.4240A>C (p.Thr1414Pro)
c.4396A>C (p.Thr1466Pro)
12g.51789362A>GCA384908466SCN8Ac.4363A>G (p.Thr1455Ala)
c.2427A>G
c.4240A>G (p.Thr1414Ala)
c.4396A>G (p.Thr1466Ala)
12g.51789362A>TCA384908464SCN8Ac.4363A>T (p.Thr1455Ser)
c.2427A>T
c.4240A>T (p.Thr1414Ser)
c.4396A>T (p.Thr1466Ser)
12g.51789363C>ACA384908469SCN8Ac.4364C>A (p.Thr1455Asn)
c.2428C>A
c.4241C>A (p.Thr1414Asn)
c.4397C>A (p.Thr1466Asn)
12g.51789363C>GCA384908471SCN8Ac.4364C>G (p.Thr1455Ser)
c.2428C>G
c.4241C>G (p.Thr1414Ser)
c.4397C>G (p.Thr1466Ser)
12g.51789363C>TCA384908473SCN8Ac.4364C>T (p.Thr1455Ile)
c.2428C>T
c.4241C>T (p.Thr1414Ile)
c.4397C>T (p.Thr1466Ile)
12g.51789364C>ACA479794986SCN8Ac.4365C>A (p.Thr1455=)
c.2429C>A
c.4242C>A (p.Thr1414=)
c.4398C>A (p.Thr1466=)
12g.51789364C=CA2036172256SCN8Ac.4365C= (p.Thr1455=)
c.2429C=
c.4242C= (p.Thr1414=)
c.4398C= (p.Thr1466=)
12g.51789364C>GCA479794987SCN8Ac.4365C>G (p.Thr1455=)
c.2429C>G
c.4242C>G (p.Thr1414=)
c.4398C>G (p.Thr1466=)
12g.51789364C>TCA479794988SCN8Ac.4365C>T (p.Thr1455=)
c.2429C>T
c.4242C>T (p.Thr1414=)
c.4398C>T (p.Thr1466=)
 dbSNP gnomAD v2 gnomAD v4
12g.51789365C>ACA384908476SCN8Ac.4366C>A (p.Leu1456Met)
c.2430C>A
c.4243C>A (p.Leu1415Met)
c.4399C>A (p.Leu1467Met)
12g.51789365C>GCA384908480SCN8Ac.4366C>G (p.Leu1456Val)
c.2430C>G
c.4243C>G (p.Leu1415Val)
c.4399C>G (p.Leu1467Val)
12g.51789365C>TCA479794989SCN8Ac.4366C>T (p.Leu1456=)
c.2430C>T
c.4243C>T (p.Leu1415=)
c.4399C>T (p.Leu1467=)
12g.51789366T>ACA384908481SCN8Ac.4367T>A (p.Leu1456Gln)
c.2431T>A
c.4244T>A (p.Leu1415Gln)
c.4400T>A (p.Leu1467Gln)
12g.51789366T>CCA384908482SCN8Ac.4367T>C (p.Leu1456Pro)
c.2431T>C
c.4244T>C (p.Leu1415Pro)
c.4400T>C (p.Leu1467Pro)
12g.51789366T>GCA384908483SCN8Ac.4367T>G (p.Leu1456Arg)
c.2431T>G
c.4244T>G (p.Leu1415Arg)
c.4400T>G (p.Leu1467Arg)
12g.51789367G>ACA479794990SCN8Ac.4368G>A (p.Leu1456=)
c.2432G>A
c.4245G>A (p.Leu1415=)
c.4401G>A (p.Leu1467=)
12g.51789367G>CCA479794991SCN8Ac.4368G>C (p.Leu1456=)
c.2432G>C
c.4245G>C (p.Leu1415=)
c.4401G>C (p.Leu1467=)
12g.51789367G>TCA479794992SCN8Ac.4368G>T (p.Leu1456=)
c.2432G>T
c.4245G>T (p.Leu1415=)
c.4401G>T (p.Leu1467=)
12g.51789368A>CCA384908484SCN8Ac.4369A>C (p.Asn1457His)
c.2433A>C
c.4246A>C (p.Asn1416His)
c.4402A>C (p.Asn1468His)
12g.51789368A>GCA384908485SCN8Ac.4369A>G (p.Asn1457Asp)
c.2433A>G
c.4246A>G (p.Asn1416Asp)
c.4402A>G (p.Asn1468Asp)
12g.51789368A>TCA384908487SCN8Ac.4369A>T (p.Asn1457Tyr)
c.2433A>T
c.4246A>T (p.Asn1416Tyr)
c.4402A>T (p.Asn1468Tyr)
12g.51789369A>CCA384908489SCN8Ac.4370A>C (p.Asn1457Thr)
c.2434A>C
c.4247A>C (p.Asn1416Thr)
c.4403A>C (p.Asn1468Thr)
12g.51789369A>GCA384908494SCN8Ac.4370A>G (p.Asn1457Ser)
c.2434A>G
c.4247A>G (p.Asn1416Ser)
c.4403A>G (p.Asn1468Ser)
12g.51789369A>TCA384908491SCN8Ac.4370A>T (p.Asn1457Ile)
c.2434A>T
c.4247A>T (p.Asn1416Ile)
c.4403A>T (p.Asn1468Ile)
12g.51789370C>ACA384908496SCN8Ac.4371C>A (p.Asn1457Lys)
c.2435C>A
c.4248C>A (p.Asn1416Lys)
c.4404C>A (p.Asn1468Lys)
 ClinVar dbSNP
12g.51789370C>GCA384908499SCN8Ac.4371C>G (p.Asn1457Lys)
c.2435C>G
c.4248C>G (p.Asn1416Lys)
c.4404C>G (p.Asn1468Lys)
12g.51789370C>TCA479794995SCN8Ac.4371C>T (p.Asn1457=)
c.2435C>T
c.4248C>T (p.Asn1416=)
c.4404C>T (p.Asn1468=)
12g.51789371C>ACA384908502SCN8Ac.4372C>A (p.Leu1458Met)
c.2436C>A
c.4249C>A (p.Leu1417Met)
c.4405C>A (p.Leu1469Met)
12g.51789371C>GCA384908504SCN8Ac.4372C>G (p.Leu1458Val)
c.2436C>G
c.4249C>G (p.Leu1417Val)
c.4405C>G (p.Leu1469Val)
12g.51789371C>TCA479794996SCN8Ac.4372C>T (p.Leu1458=)
c.2436C>T
c.4249C>T (p.Leu1417=)
c.4405C>T (p.Leu1469=)
12g.51789372T>ACA384908507SCN8Ac.4373T>A (p.Leu1458Gln)
c.2437T>A
c.4250T>A (p.Leu1417Gln)
c.4406T>A (p.Leu1469Gln)
12g.51789372T>CCA384908509SCN8Ac.4373T>C (p.Leu1458Pro)
c.2437T>C
c.4250T>C (p.Leu1417Pro)
c.4406T>C (p.Leu1469Pro)
12g.51789372T>GCA384908511SCN8Ac.4373T>G (p.Leu1458Arg)
c.2437T>G
c.4250T>G (p.Leu1417Arg)
c.4406T>G (p.Leu1469Arg)
12g.51789373G>ACA6571800SCN8Ac.4374G>A (p.Leu1458=)
c.2438G>A
c.4251G>A (p.Leu1417=)
c.4407G>A (p.Leu1469=)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.51789373G>CCA479794998SCN8Ac.4374G>C (p.Leu1458=)
c.2438G>C
c.4251G>C (p.Leu1417=)
c.4407G>C (p.Leu1469=)
12g.51789373G=CA2036172258SCN8Ac.4374G= (p.Leu1458=)
c.2438G=
c.4251G= (p.Leu1417=)
c.4407G= (p.Leu1469=)
12g.51789373G>TCA479794997SCN8Ac.4374G>T (p.Leu1458=)
c.2438G>T
c.4251G>T (p.Leu1417=)
c.4407G>T (p.Leu1469=)
12g.51789374T>ACA384908515SCN8Ac.4375T>A (p.Phe1459Ile)
c.2439T>A
c.4252T>A (p.Phe1418Ile)
c.4408T>A (p.Phe1470Ile)
12g.51789374T>CCA384908517SCN8Ac.4375T>C (p.Phe1459Leu)
c.2439T>C
c.4252T>C (p.Phe1418Leu)
c.4408T>C (p.Phe1470Leu)
12g.51789374T>GCA384908518SCN8Ac.4375T>G (p.Phe1459Val)
c.2439T>G
c.4252T>G (p.Phe1418Val)
c.4408T>G (p.Phe1470Val)
12g.51789375T>ACA384908519SCN8Ac.4376T>A (p.Phe1459Tyr)
c.2440T>A
c.4253T>A (p.Phe1418Tyr)
c.4409T>A (p.Phe1470Tyr)
12g.51789375T>CCA384908520SCN8Ac.4376T>C (p.Phe1459Ser)
c.2440T>C
c.4253T>C (p.Phe1418Ser)
c.4409T>C (p.Phe1470Ser)
12g.51789375T>GCA384908521SCN8Ac.4376T>G (p.Phe1459Cys)
c.2440T>G
c.4253T>G (p.Phe1418Cys)
c.4409T>G (p.Phe1470Cys)
12g.51789376C>ACA384908522SCN8Ac.4377C>A (p.Phe1459Leu)
c.2441C>A
c.4254C>A (p.Phe1418Leu)
c.4410C>A (p.Phe1470Leu)
12g.51789376C>GCA384908523SCN8Ac.4377C>G (p.Phe1459Leu)
c.2441C>G
c.4254C>G (p.Phe1418Leu)
c.4410C>G (p.Phe1470Leu)
 ClinVar
12g.51789376C>TCA479795000SCN8Ac.4377C>T (p.Phe1459=)
c.2441C>T
c.4254C>T (p.Phe1418=)
c.4410C>T (p.Phe1470=)
 COSMIC COSMIC
12g.51789377A>CCA384908524SCN8Ac.4378A>C (p.Ile1460Leu)
c.2442A>C
c.4255A>C (p.Ile1419Leu)
c.4411A>C (p.Ile1471Leu)
12g.51789377A>GCA384908526SCN8Ac.4378A>G (p.Ile1460Val)
c.2442A>G
c.4255A>G (p.Ile1419Val)
c.4411A>G (p.Ile1471Val)
 ClinVar dbSNP
12g.51789377A>TCA384908525SCN8Ac.4378A>T (p.Ile1460Phe)
c.2442A>T
c.4255A>T (p.Ile1419Phe)
c.4411A>T (p.Ile1471Phe)
 COSMIC COSMIC
12g.51789378T>ACA384908527SCN8Ac.4379T>A (p.Ile1460Asn)
c.2443T>A
c.4256T>A (p.Ile1419Asn)
c.4412T>A (p.Ile1471Asn)
12g.51789378T>CCA384908528SCN8Ac.4379T>C (p.Ile1460Thr)
c.2443T>C
c.4256T>C (p.Ile1419Thr)
c.4412T>C (p.Ile1471Thr)
12g.51789378T>GCA384908529SCN8Ac.4379T>G (p.Ile1460Ser)
c.2443T>G
c.4256T>G (p.Ile1419Ser)
c.4412T>G (p.Ile1471Ser)
12g.51789379T>ACA479795003SCN8Ac.4380T>A (p.Ile1460=)
c.2444T>A
c.4257T>A (p.Ile1419=)
c.4413T>A (p.Ile1471=)
12g.51789379T>CCA479795006SCN8Ac.4380T>C (p.Ile1460=)
c.2444T>C
c.4257T>C (p.Ile1419=)
c.4413T>C (p.Ile1471=)
12g.51789379T>GCA384908530SCN8Ac.4380T>G (p.Ile1460Met)
c.2444T>G
c.4257T>G (p.Ile1419Met)
c.4413T>G (p.Ile1471Met)
12g.51789380G>ACA384908531SCN8Ac.4381G>A (p.Gly1461Ser)
c.2445G>A
c.4258G>A (p.Gly1420Ser)
c.4414G>A (p.Gly1472Ser)
12g.51789380G>CCA384908532SCN8Ac.4381G>C (p.Gly1461Arg)
c.2445G>C
c.4258G>C (p.Gly1420Arg)
c.4414G>C (p.Gly1472Arg)
12g.51789380G>TCA384908533SCN8Ac.4381G>T (p.Gly1461Cys)
c.2445G>T
c.4258G>T (p.Gly1420Cys)
c.4414G>T (p.Gly1472Cys)
12g.51789381G>ACA384908534SCN8Ac.4382G>A (p.Gly1461Asp)
c.2446G>A
c.4259G>A (p.Gly1420Asp)
c.4415G>A (p.Gly1472Asp)
12g.51789381G>CCA384908535SCN8Ac.4382G>C (p.Gly1461Ala)
c.2446G>C
c.4259G>C (p.Gly1420Ala)
c.4415G>C (p.Gly1472Ala)
12g.51789381G>TCA384908536SCN8Ac.4382G>T (p.Gly1461Val)
c.2446G>T
c.4259G>T (p.Gly1420Val)
c.4415G>T (p.Gly1472Val)
 ClinVar
12g.51789382T>ACA479795007SCN8Ac.4383T>A (p.Gly1461=)
c.2447T>A
c.4260T>A (p.Gly1420=)
c.4416T>A (p.Gly1472=)
12g.51789382T>CCA479795008SCN8Ac.4383T>C (p.Gly1461=)
c.2447T>C
c.4260T>C (p.Gly1420=)
c.4416T>C (p.Gly1472=)
 ClinVar dbSNP
12g.51789382T>GCA479795009SCN8Ac.4383T>G (p.Gly1461=)
c.2447T>G
c.4260T>G (p.Gly1420=)
c.4416T>G (p.Gly1472=)
12g.51789383G>ACA384908538SCN8Ac.4384G>A (p.Val1462Ile)
c.2448G>A
c.4261G>A (p.Val1421Ile)
c.4417G>A (p.Val1473Ile)
 ClinVar dbSNP
12g.51789383G>CCA384908539SCN8Ac.4384G>C (p.Val1462Leu)
c.2448G>C
c.4261G>C (p.Val1421Leu)
c.4417G>C (p.Val1473Leu)
12g.51789383G>TCA384908537SCN8Ac.4384G>T (p.Val1462Phe)
c.2448G>T
c.4261G>T (p.Val1421Phe)
c.4417G>T (p.Val1473Phe)
12g.51789384T>ACA384908540SCN8Ac.4385T>A (p.Val1462Asp)
c.2449T>A
c.4262T>A (p.Val1421Asp)
c.4418T>A (p.Val1473Asp)
12g.51789384T>CCA384908541SCN8Ac.4385T>C (p.Val1462Ala)
c.2449T>C
c.4262T>C (p.Val1421Ala)
c.4418T>C (p.Val1473Ala)
12g.51789384T>GCA384908542SCN8Ac.4385T>G (p.Val1462Gly)
c.2449T>G
c.4262T>G (p.Val1421Gly)
c.4418T>G (p.Val1473Gly)
12g.51789385C>ACA479795011SCN8Ac.4386C>A (p.Val1462=)
c.2450C>A
c.4263C>A (p.Val1421=)
c.4419C>A (p.Val1473=)
12g.51789385C>GCA479795012SCN8Ac.4386C>G (p.Val1462=)
c.2450C>G
c.4263C>G (p.Val1421=)
c.4419C>G (p.Val1473=)
12g.51789385C>TCA479795013SCN8Ac.4386C>T (p.Val1462=)
c.2450C>T
c.4263C>T (p.Val1421=)
c.4419C>T (p.Val1473=)
12g.51789386A>CCA384908543SCN8Ac.4387A>C (p.Ile1463Leu)
c.2451A>C
c.4264A>C (p.Ile1422Leu)
c.4420A>C (p.Ile1474Leu)
12g.51789386A>GCA384908544SCN8Ac.4387A>G (p.Ile1463Val)
c.2451A>G
c.4264A>G (p.Ile1422Val)
c.4420A>G (p.Ile1474Val)
12g.51789386A>TCA384908545SCN8Ac.4387A>T (p.Ile1463Phe)
c.2451A>T
c.4264A>T (p.Ile1422Phe)
c.4420A>T (p.Ile1474Phe)
12g.51789387T>ACA384908546SCN8Ac.4388T>A (p.Ile1463Asn)
c.2452T>A
c.4265T>A (p.Ile1422Asn)
c.4421T>A (p.Ile1474Asn)
12g.51789387T>CCA384908548SCN8Ac.4388T>C (p.Ile1463Thr)
c.2452T>C
c.4265T>C (p.Ile1422Thr)
c.4421T>C (p.Ile1474Thr)
12g.51789387T>GCA384908547SCN8Ac.4388T>G (p.Ile1463Ser)
c.2452T>G
c.4265T>G (p.Ile1422Ser)
c.4421T>G (p.Ile1474Ser)
12g.51789388C>ACA479795014SCN8Ac.4389C>A (p.Ile1463=)
c.2453C>A
c.4266C>A (p.Ile1422=)
c.4422C>A (p.Ile1474=)
12g.51789388C>GCA384908549SCN8Ac.4389C>G (p.Ile1463Met)
c.2453C>G
c.4266C>G (p.Ile1422Met)
c.4422C>G (p.Ile1474Met)
12g.51789388C>TCA479795016SCN8Ac.4389C>T (p.Ile1463=)
c.2453C>T
c.4266C>T (p.Ile1422=)
c.4422C>T (p.Ile1474=)
 gnomAD v4
12g.51789389A>CCA384908550SCN8Ac.4390A>C (p.Ile1464Leu)
c.2454A>C
c.4267A>C (p.Ile1423Leu)
c.4423A>C (p.Ile1475Leu)
12g.51789389A>GCA384908551SCN8Ac.4390A>G (p.Ile1464Val)
c.2454A>G
c.4267A>G (p.Ile1423Val)
c.4423A>G (p.Ile1475Val)
12g.51789389A>TCA384908552SCN8Ac.4390A>T (p.Ile1464Phe)
c.2454A>T
c.4267A>T (p.Ile1423Phe)
c.4423A>T (p.Ile1475Phe)
12g.51789390T>ACA384908553SCN8Ac.4391T>A (p.Ile1464Asn)
c.2455T>A
c.4268T>A (p.Ile1423Asn)
c.4424T>A (p.Ile1475Asn)
12g.51789390T>CCA384908556SCN8Ac.4391T>C (p.Ile1464Thr)
c.2455T>C
c.4268T>C (p.Ile1423Thr)
c.4424T>C (p.Ile1475Thr)
 ClinVar dbSNP
12g.51789390T>GCA384908554SCN8Ac.4391T>G (p.Ile1464Ser)
c.2455T>G
c.4268T>G (p.Ile1423Ser)
c.4424T>G (p.Ile1475Ser)
12g.51789391T>ACA479795017SCN8Ac.4392T>A (p.Ile1464=)
c.2456T>A
c.4269T>A (p.Ile1423=)
c.4425T>A (p.Ile1475=)
12g.51789391T>CCA479795018SCN8Ac.4392T>C (p.Ile1464=)
c.2456T>C
c.4269T>C (p.Ile1423=)
c.4425T>C (p.Ile1475=)
12g.51789391T>GCA384908557SCN8Ac.4392T>G (p.Ile1464Met)
c.2456T>G
c.4269T>G (p.Ile1423Met)
c.4425T>G (p.Ile1475Met)
12g.51789392delCA2695216827SCN8Ac.4393del (p.Asp1465IlefsTer17)
c.2457del
c.4270del (p.Asp1424IlefsTer17)
c.4426del (p.Asp1476IlefsTer17)
12g.51789392G>ACA384908558SCN8Ac.4393G>A (p.Asp1465Asn)
c.2457G>A
c.4270G>A (p.Asp1424Asn)
c.4426G>A (p.Asp1476Asn)
 ClinVar dbSNP
12g.51789392G>CCA384908559SCN8Ac.4393G>C (p.Asp1465His)
c.2457G>C
c.4270G>C (p.Asp1424His)
c.4426G>C (p.Asp1476His)
12g.51789392G=CA2036172262SCN8Ac.4393G= (p.Asp1465=)
c.2457G=
c.4270G= (p.Asp1424=)
c.4426G= (p.Asp1476=)
12g.51789392G>TCA384908560SCN8Ac.4393G>T (p.Asp1465Tyr)
c.2457G>T
c.4270G>T (p.Asp1424Tyr)
c.4426G>T (p.Asp1476Tyr)
12g.51789393A=CA2036172266SCN8Ac.4394A= (p.Asp1465=)
c.2458A=
c.4271A= (p.Asp1424=)
c.4427A= (p.Asp1476=)
12g.51789393A>CCA384908561SCN8Ac.4394A>C (p.Asp1465Ala)
c.2458A>C
c.4271A>C (p.Asp1424Ala)
c.4427A>C (p.Asp1476Ala)
12g.51789393A>GCA384908562SCN8Ac.4394A>G (p.Asp1465Gly)
c.2458A>G
c.4271A>G (p.Asp1424Gly)
c.4427A>G (p.Asp1476Gly)
12g.51789393A>TCA384908563SCN8Ac.4394A>T (p.Asp1465Val)
c.2458A>T
c.4271A>T (p.Asp1424Val)
c.4427A>T (p.Asp1476Val)
 ClinVar dbSNP
12g.51789394T>ACA384908564SCN8Ac.4395T>A (p.Asp1465Glu)
c.2459T>A
c.4272T>A (p.Asp1424Glu)
c.4428T>A (p.Asp1476Glu)
12g.51789394T>CCA479795021SCN8Ac.4395T>C (p.Asp1465=)
c.2459T>C
c.4272T>C (p.Asp1424=)
c.4428T>C (p.Asp1476=)
12g.51789394T>GCA384908565SCN8Ac.4395T>G (p.Asp1465Glu)
c.2459T>G
c.4272T>G (p.Asp1424Glu)
c.4428T>G (p.Asp1476Glu)
12g.51789395A>CCA384908566SCN8Ac.4396A>C (p.Asn1466His)
c.2460A>C
c.4273A>C (p.Asn1425His)
c.4429A>C (p.Asn1477His)
12g.51789395A>GCA384908567SCN8Ac.4396A>G (p.Asn1466Asp)
c.2460A>G
c.4273A>G (p.Asn1425Asp)
c.4429A>G (p.Asn1477Asp)
12g.51789395A>TCA384908568SCN8Ac.4396A>T (p.Asn1466Tyr)
c.2460A>T
c.4273A>T (p.Asn1425Tyr)
c.4429A>T (p.Asn1477Tyr)
12g.51789396A=CA2036172272SCN8Ac.4397A= (p.Asn1466=)
c.2461A=
c.4274A= (p.Asn1425=)
c.4430A= (p.Asn1477=)
12g.51789396A>CCA170759SCN8Ac.4397A>C (p.Asn1466Thr)
c.2461A>C
c.4274A>C (p.Asn1425Thr)
c.4430A>C (p.Asn1477Thr)
 ClinVar dbSNP
12g.51789396A>GCA384908570SCN8Ac.4397A>G (p.Asn1466Ser)
c.2461A>G
c.4274A>G (p.Asn1425Ser)
c.4430A>G (p.Asn1477Ser)
 ClinVar dbSNP
12g.51789396A>TCA384908569SCN8Ac.4397A>T (p.Asn1466Ile)
c.2461A>T
c.4274A>T (p.Asn1425Ile)
c.4430A>T (p.Asn1477Ile)
12g.51789397C>ACA170758SCN8Ac.4398C>A (p.Asn1466Lys)
c.2462C>A
c.4275C>A (p.Asn1425Lys)
c.4431C>A (p.Asn1477Lys)
 ClinVar dbSNP
12g.51789397C=CA2036172283SCN8Ac.4398C= (p.Asn1466=)
c.2462C=
c.4275C= (p.Asn1425=)
c.4431C= (p.Asn1477=)
12g.51789397C>GCA384908571SCN8Ac.4398C>G (p.Asn1466Lys)
c.2462C>G
c.4275C>G (p.Asn1425Lys)
c.4431C>G (p.Asn1477Lys)
 ClinVar
12g.51789397C>TCA479795022SCN8Ac.4398C>T (p.Asn1466=)
c.2462C>T
c.4275C>T (p.Asn1425=)
c.4431C>T (p.Asn1477=)
 ClinVar
12g.51789398T>ACA384908572SCN8Ac.4399T>A (p.Phe1467Ile)
c.2463T>A
c.4276T>A (p.Phe1426Ile)
c.4432T>A (p.Phe1478Ile)
12g.51789398T>CCA384908573SCN8Ac.4399T>C (p.Phe1467Leu)
c.2463T>C
c.4276T>C (p.Phe1426Leu)
c.4432T>C (p.Phe1478Leu)
12g.51789398T>GCA384908574SCN8Ac.4399T>G (p.Phe1467Val)
c.2463T>G
c.4276T>G (p.Phe1426Val)
c.4432T>G (p.Phe1478Val)
 ClinVar
12g.51789399T>ACA384908575SCN8Ac.4400T>A (p.Phe1467Tyr)
c.2464T>A
c.4277T>A (p.Phe1426Tyr)
c.4433T>A (p.Phe1478Tyr)
12g.51789399T>CCA384908576SCN8Ac.4400T>C (p.Phe1467Ser)
c.2464T>C
c.4277T>C (p.Phe1426Ser)
c.4433T>C (p.Phe1478Ser)
12g.51789399T>GCA384908577SCN8Ac.4400T>G (p.Phe1467Cys)
c.2464T>G
c.4277T>G (p.Phe1426Cys)
c.4433T>G (p.Phe1478Cys)
 ClinVar dbSNP
12g.51789399T=CA2036172289SCN8Ac.4400T= (p.Phe1467=)
c.2464T=
c.4277T= (p.Phe1426=)
c.4433T= (p.Phe1478=)
12g.51789400C>ACA384908578SCN8Ac.4401C>A (p.Phe1467Leu)
c.2465C>A
c.4278C>A (p.Phe1426Leu)
c.4434C>A (p.Phe1478Leu)
 COSMIC COSMIC
12g.51789400C>GCA384908579SCN8Ac.4401C>G (p.Phe1467Leu)
c.2465C>G
c.4278C>G (p.Phe1426Leu)
c.4434C>G (p.Phe1478Leu)
12g.51789400C>TCA479795025SCN8Ac.4401C>T (p.Phe1467=)
c.2465C>T
c.4278C>T (p.Phe1426=)
c.4434C>T (p.Phe1478=)
12g.51789401A>CCA384908580SCN8Ac.4402A>C (p.Asn1468His)
c.2466A>C
c.4279A>C (p.Asn1427His)
c.4435A>C (p.Asn1479His)
12g.51789401A>GCA384908581SCN8Ac.4402A>G (p.Asn1468Asp)
c.2466A>G
c.4279A>G (p.Asn1427Asp)
c.4435A>G (p.Asn1479Asp)
12g.51789401A>TCA384908582SCN8Ac.4402A>T (p.Asn1468Tyr)
c.2466A>T
c.4279A>T (p.Asn1427Tyr)
c.4435A>T (p.Asn1479Tyr)
12g.51789402A=CA2036172296SCN8Ac.4403A= (p.Asn1468=)
c.2467A=
c.4280A= (p.Asn1427=)
c.4436A= (p.Asn1479=)
12g.51789402A>CCA384908584SCN8Ac.4403A>C (p.Asn1468Thr)
c.2467A>C
c.4280A>C (p.Asn1427Thr)
c.4436A>C (p.Asn1479Thr)
12g.51789402A>GCA16043682SCN8Ac.4403A>G (p.Asn1468Ser)
c.2467A>G
c.4280A>G (p.Asn1427Ser)
c.4436A>G (p.Asn1479Ser)
 ClinVar dbSNP dbSNP gnomAD v4
12g.51789402A>TCA384908583SCN8Ac.4403A>T (p.Asn1468Ile)
c.2467A>T
c.4280A>T (p.Asn1427Ile)
c.4436A>T (p.Asn1479Ile)
12g.51789403T>ACA384908585SCN8Ac.4404T>A (p.Asn1468Lys)
c.2468T>A
c.4281T>A (p.Asn1427Lys)
c.4437T>A (p.Asn1479Lys)
12g.51789403T>CCA479795026SCN8Ac.4404T>C (p.Asn1468=)
c.2468T>C
c.4281T>C (p.Asn1427=)
c.4437T>C (p.Asn1479=)
 ClinVar gnomAD v4
12g.51789403T>GCA384908586SCN8Ac.4404T>G (p.Asn1468Lys)
c.2468T>G
c.4281T>G (p.Asn1427Lys)
c.4437T>G (p.Asn1479Lys)
12g.51789404C>ACA384908587SCN8Ac.4405C>A (p.Gln1469Lys)
c.2469C>A
c.4282C>A (p.Gln1428Lys)
c.4438C>A (p.Gln1480Lys)
 COSMIC COSMIC
12g.51789404C=CA2036172301SCN8Ac.4405C= (p.Gln1469=)
c.2469C=
c.4282C= (p.Gln1428=)
c.4438C= (p.Gln1480=)
12g.51789404C>GCA384908588SCN8Ac.4405C>G (p.Gln1469Glu)
c.2469C>G
c.4282C>G (p.Gln1428Glu)
c.4438C>G (p.Gln1480Glu)
12g.51789404C>TCA384908589SCN8Ac.4405C>T (p.Gln1469Ter)
c.2469C>T
c.4282C>T (p.Gln1428Ter)
c.4438C>T (p.Gln1480Ter)
 dbSNP
12g.51789405A>CCA384908592SCN8Ac.4406A>C (p.Gln1469Pro)
c.2470A>C
c.4283A>C (p.Gln1428Pro)
c.4439A>C (p.Gln1480Pro)
12g.51789405A>GCA384908590SCN8Ac.4406A>G (p.Gln1469Arg)
c.2470A>G
c.4283A>G (p.Gln1428Arg)
c.4439A>G (p.Gln1480Arg)
12g.51789405A>TCA384908591SCN8Ac.4406A>T (p.Gln1469Leu)
c.2470A>T
c.4283A>T (p.Gln1428Leu)
c.4439A>T (p.Gln1480Leu)
12g.51789406A>CCA384908593SCN8Ac.4407A>C (p.Gln1469His)
c.2471A>C
c.4284A>C (p.Gln1428His)
c.4440A>C (p.Gln1480His)
12g.51789406A>GCA479795028SCN8Ac.4407A>G (p.Gln1469=)
c.2471A>G
c.4284A>G (p.Gln1428=)
c.4440A>G (p.Gln1480=)
12g.51789406A>TCA384908594SCN8Ac.4407A>T (p.Gln1469His)
c.2471A>T
c.4284A>T (p.Gln1428His)
c.4440A>T (p.Gln1480His)
12g.51789407C>ACA384908595SCN8Ac.4408C>A (p.Gln1470Lys)
c.2472C>A
c.4285C>A (p.Gln1429Lys)
c.4441C>A (p.Gln1481Lys)
 ClinVar
12g.51789407C=CA2036172307SCN8Ac.4408C= (p.Gln1470=)
c.2472C=
c.4285C= (p.Gln1429=)
c.4441C= (p.Gln1481=)
12g.51789407C>GCA384908596SCN8Ac.4408C>G (p.Gln1470Glu)
c.2472C>G
c.4285C>G (p.Gln1429Glu)
c.4441C>G (p.Gln1481Glu)
 ClinVar
12g.51789407C>TCA384908597SCN8Ac.4408C>T (p.Gln1470Ter)
c.2472C>T
c.4285C>T (p.Gln1429Ter)
c.4441C>T (p.Gln1481Ter)
 dbSNP gnomAD v4
12g.51789407_51789408delinsCACA2036172308SCN8Ac.4408_4409delinsCA (p.Gln1470=)
c.2472_2473delinsCA
c.4285_4286delinsCA (p.Gln1429=)
c.4441_4442delinsCA (p.Gln1481=)
12g.51789408A=CA2036172315SCN8Ac.4409A= (p.Gln1470=)
c.2473A=
c.4286A= (p.Gln1429=)
c.4442A= (p.Gln1481=)
12g.51789408A>CCA384908600SCN8Ac.4409A>C (p.Gln1470Pro)
c.2473A>C
c.4286A>C (p.Gln1429Pro)
c.4442A>C (p.Gln1481Pro)
 ClinVar dbSNP
12g.51789408A>GCA384908599SCN8Ac.4409A>G (p.Gln1470Arg)
c.2473A>G
c.4286A>G (p.Gln1429Arg)
c.4442A>G (p.Gln1481Arg)
 ClinVar dbSNP
12g.51789408A>TCA384908598SCN8Ac.4409A>T (p.Gln1470Leu)
c.2473A>T
c.4286A>T (p.Gln1429Leu)
c.4442A>T (p.Gln1481Leu)
12g.51789411delCA1139662691SCN8Ac.4412del (p.Lys1471ArgfsTer11)
c.2476del
c.4289del (p.Lys1430ArgfsTer11)
c.4445del (p.Lys1482ArgfsTer11)
 ClinVar dbSNP
12g.51789409A>CCA384908601SCN8Ac.4410A>C (p.Gln1470His)
c.2474A>C
c.4287A>C (p.Gln1429His)
c.4443A>C (p.Gln1481His)
12g.51789409A>GCA479795031SCN8Ac.4410A>G (p.Gln1470=)
c.2474A>G
c.4287A>G (p.Gln1429=)
c.4443A>G (p.Gln1481=)
12g.51789409A>TCA384908602SCN8Ac.4410A>T (p.Gln1470His)
c.2474A>T
c.4287A>T (p.Gln1429His)
c.4443A>T (p.Gln1481His)
12g.51789410A=CA2036172323SCN8Ac.4411A= (p.Lys1471=)
c.2475A=
c.4288A= (p.Lys1430=)
c.4444A= (p.Lys1482=)
12g.51789410A>CCA16606653SCN8Ac.4411A>C (p.Lys1471Gln)
c.2475A>C
c.4288A>C (p.Lys1430Gln)
c.4444A>C (p.Lys1482Gln)
 ClinVar dbSNP
12g.51789410A>GCA384908603SCN8Ac.4411A>G (p.Lys1471Glu)
c.2475A>G
c.4288A>G (p.Lys1430Glu)
c.4444A>G (p.Lys1482Glu)
12g.51789410A>TCA384908604SCN8Ac.4411A>T (p.Lys1471Ter)
c.2475A>T
c.4288A>T (p.Lys1430Ter)
c.4444A>T (p.Lys1482Ter)
 dbSNP
12g.51789411A=CA2036172326SCN8Ac.4412A= (p.Lys1471=)
c.2476A=
c.4289A= (p.Lys1430=)
c.4445A= (p.Lys1482=)
12g.51789411A>CCA384908606SCN8Ac.4412A>C (p.Lys1471Thr)
c.2476A>C
c.4289A>C (p.Lys1430Thr)
c.4445A>C (p.Lys1482Thr)
12g.51789411A>GCA384908605SCN8Ac.4412A>G (p.Lys1471Arg)
c.2476A>G
c.4289A>G (p.Lys1430Arg)
c.4445A>G (p.Lys1482Arg)
12g.51789411A>TCA16043756SCN8Ac.4412A>T (p.Lys1471Met)
c.2476A>T
c.4289A>T (p.Lys1430Met)
c.4445A>T (p.Lys1482Met)
 ClinVar dbSNP

Number of alleles fetched