Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.149482780dupCA2824136035IDSc.1620dup (p.Gly541ArgfsTer21)
c.987dup (p.Gly330ArgfsTer21)
c.1350dup (p.Gly451ArgfsTer21)
Xg.149482780T>ACA414517676IDSc.1619A>T (p.Gln540Leu)
c.986A>T (p.Gln329Leu)
c.1349A>T (p.Gln450Leu)
Xg.149482780T>CCA414517677IDSc.1619A>G (p.Gln540Arg)
c.986A>G (p.Gln329Arg)
c.1349A>G (p.Gln450Arg)
Xg.149482780T>GCA414517678IDSc.1619A>C (p.Gln540Pro)
c.986A>C (p.Gln329Pro)
c.1349A>C (p.Gln450Pro)
Xg.149482781G>ACA414517681IDSc.1618C>T (p.Gln540Ter)
c.985C>T (p.Gln329Ter)
c.1348C>T (p.Gln450Ter)
 gnomAD v4
Xg.149482781G>CCA414517680IDSc.1618C>G (p.Gln540Glu)
c.985C>G (p.Gln329Glu)
c.1348C>G (p.Gln450Glu)
Xg.149482781G>TCA414517679IDSc.1618C>A (p.Gln540Lys)
c.985C>A (p.Gln329Lys)
c.1348C>A (p.Gln450Lys)
 gnomAD v4
Xg.149482782G>ACA10537426IDSc.1617C>T (p.Ser539=)
c.984C>T (p.Ser328=)
c.1347C>T (p.Ser449=)
 ClinVar dbSNP ExAC gnomAD v4
Xg.149482782G>CCA519057385IDSc.1617C>G (p.Ser539=)
c.984C>G (p.Ser328=)
c.1347C>G (p.Ser449=)
Xg.149482782G=CA2465003931IDSc.1617C= (p.Ser539=)
c.984C= (p.Ser328=)
c.1347C= (p.Ser449=)
Xg.149482782G>TCA519057384IDSc.1617C>A (p.Ser539=)
c.984C>A (p.Ser328=)
c.1347C>A (p.Ser449=)
Xg.149482783G>ACA414517682IDSc.1616C>T (p.Ser539Phe)
c.983C>T (p.Ser328Phe)
c.1346C>T (p.Ser449Phe)
 gnomAD v4
Xg.149482783G>CCA10537427IDSc.1616C>G (p.Ser539Cys)
c.983C>G (p.Ser328Cys)
c.1346C>G (p.Ser449Cys)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.149482783G=CA2465003932IDSc.1616C= (p.Ser539=)
c.983C= (p.Ser328=)
c.1346C= (p.Ser449=)
Xg.149482783G>TCA414517683IDSc.1616C>A (p.Ser539Tyr)
c.983C>A (p.Ser328Tyr)
c.1346C>A (p.Ser449Tyr)
Xg.149482784A=CA2465003933IDSc.1615T= (p.Ser539=)
c.982T= (p.Ser328=)
c.1345T= (p.Ser449=)
Xg.149482784A>CCA414517684IDSc.1615T>G (p.Ser539Ala)
c.982T>G (p.Ser328Ala)
c.1345T>G (p.Ser449Ala)
 dbSNP gnomAD v3 gnomAD v4
Xg.149482784A>GCA414517685IDSc.1615T>C (p.Ser539Pro)
c.982T>C (p.Ser328Pro)
c.1345T>C (p.Ser449Pro)
Xg.149482784A>TCA414517686IDSc.1615T>A (p.Ser539Thr)
c.982T>A (p.Ser328Thr)
c.1345T>A (p.Ser449Thr)
Xg.149482785A>CCA414517687IDSc.1614T>G (p.Asp538Glu)
c.981T>G (p.Asp327Glu)
c.1344T>G (p.Asp448Glu)
Xg.149482785A>GCA519057386IDSc.1614T>C (p.Asp538=)
c.981T>C (p.Asp327=)
c.1344T>C (p.Asp448=)
Xg.149482785A>TCA414517688IDSc.1614T>A (p.Asp538Glu)
c.981T>A (p.Asp327Glu)
c.1344T>A (p.Asp448Glu)
Xg.149482786T>ACA414517689IDSc.1613A>T (p.Asp538Val)
c.980A>T (p.Asp327Val)
c.1343A>T (p.Asp448Val)
Xg.149482786T>CCA414517690IDSc.1613A>G (p.Asp538Gly)
c.980A>G (p.Asp327Gly)
c.1343A>G (p.Asp448Gly)
Xg.149482786T>GCA414517691IDSc.1613A>C (p.Asp538Ala)
c.980A>C (p.Asp327Ala)
c.1343A>C (p.Asp448Ala)
Xg.149482787C>ACA414517694IDSc.1612G>T (p.Asp538Tyr)
c.979G>T (p.Asp327Tyr)
c.1342G>T (p.Asp448Tyr)
Xg.149482787C>GCA414517693IDSc.1612G>C (p.Asp538His)
c.979G>C (p.Asp327His)
c.1342G>C (p.Asp448His)
 gnomAD v4
Xg.149482787C>TCA414517692IDSc.1612G>A (p.Asp538Asn)
c.979G>A (p.Asp327Asn)
c.1342G>A (p.Asp448Asn)
Xg.149482788delCA2695236475IDSc.1611del (p.Asn537LysfsTer12)
c.978del (p.Asn326LysfsTer12)
c.1341del (p.Asn447LysfsTer12)
Xg.149482788A>CCA414517695IDSc.1611T>G (p.Asn537Lys)
c.978T>G (p.Asn326Lys)
c.1341T>G (p.Asn447Lys)
Xg.149482788A>GCA519057387IDSc.1611T>C (p.Asn537=)
c.978T>C (p.Asn326=)
c.1341T>C (p.Asn447=)
Xg.149482788A>TCA414517696IDSc.1611T>A (p.Asn537Lys)
c.978T>A (p.Asn326Lys)
c.1341T>A (p.Asn447Lys)
Xg.149482789T>ACA414517697IDSc.1610A>T (p.Asn537Ile)
c.977A>T (p.Asn326Ile)
c.1340A>T (p.Asn447Ile)
Xg.149482789T>CCA414517698IDSc.1610A>G (p.Asn537Ser)
c.977A>G (p.Asn326Ser)
c.1340A>G (p.Asn447Ser)
 ClinVar dbSNP
Xg.149482789T>GCA414517699IDSc.1610A>C (p.Asn537Thr)
c.977A>C (p.Asn326Thr)
c.1340A>C (p.Asn447Thr)
Xg.149482789T=CA2465003934IDSc.1610A= (p.Asn537=)
c.977A= (p.Asn326=)
c.1340A= (p.Asn447=)
Xg.149482790T>ACA414517700IDSc.1609A>T (p.Asn537Tyr)
c.976A>T (p.Asn326Tyr)
c.1339A>T (p.Asn447Tyr)
Xg.149482790T>CCA414517701IDSc.1609A>G (p.Asn537Asp)
c.976A>G (p.Asn326Asp)
c.1339A>G (p.Asn447Asp)
Xg.149482790T>GCA414517702IDSc.1609A>C (p.Asn537His)
c.976A>C (p.Asn326His)
c.1339A>C (p.Asn447His)
Xg.149482792_149482793delCA2830782871IDSc.1608_1609del (p.Tyr536Ter)
c.975_976del (p.Tyr325Ter)
c.1338_1339del (p.Tyr446Ter)
Xg.149482791A=CA2465003935IDSc.1608T= (p.Tyr536=)
c.975T= (p.Tyr325=)
c.1338T= (p.Tyr446=)
Xg.149482791A>CCA414517703IDSc.1608T>G (p.Tyr536Ter)
c.975T>G (p.Tyr325Ter)
c.1338T>G (p.Tyr446Ter)
Xg.149482791A>GCA519057388IDSc.1608T>C (p.Tyr536=)
c.975T>C (p.Tyr325=)
c.1338T>C (p.Tyr446=)
 ClinVar dbSNP
Xg.149482791A>TCA414517704IDSc.1608T>A (p.Tyr536Ter)
c.975T>A (p.Tyr325Ter)
c.1338T>A (p.Tyr446Ter)
Xg.149482792T>ACA414517705IDSc.1607A>T (p.Tyr536Phe)
c.974A>T (p.Tyr325Phe)
c.1337A>T (p.Tyr446Phe)
Xg.149482792T>CCA414517706IDSc.1607A>G (p.Tyr536Cys)
c.974A>G (p.Tyr325Cys)
c.1337A>G (p.Tyr446Cys)
Xg.149482792T>GCA414517707IDSc.1607A>C (p.Tyr536Ser)
c.974A>C (p.Tyr325Ser)
c.1337A>C (p.Tyr446Ser)
Xg.149482793A>CCA414517710IDSc.1606T>G (p.Tyr536Asp)
c.973T>G (p.Tyr325Asp)
c.1336T>G (p.Tyr446Asp)
Xg.149482793A>GCA414517708IDSc.1606T>C (p.Tyr536His)
c.973T>C (p.Tyr325His)
c.1336T>C (p.Tyr446His)
Xg.149482793A>TCA414517709IDSc.1606T>A (p.Tyr536Asn)
c.973T>A (p.Tyr325Asn)
c.1336T>A (p.Tyr446Asn)
Xg.149482794C>ACA414517711IDSc.1605G>T (p.Met535Ile)
c.972G>T (p.Met324Ile)
c.1335G>T (p.Met445Ile)
Xg.149482794C>GCA414517712IDSc.1605G>C (p.Met535Ile)
c.972G>C (p.Met324Ile)
c.1335G>C (p.Met445Ile)
Xg.149482794C>TCA414517713IDSc.1605G>A (p.Met535Ile)
c.972G>A (p.Met324Ile)
c.1335G>A (p.Met445Ile)
Xg.149482795A=CA2465003936IDSc.1604T= (p.Met535=)
c.971T= (p.Met324=)
c.1334T= (p.Met445=)
Xg.149482795A>CCA414517714IDSc.1604T>G (p.Met535Arg)
c.971T>G (p.Met324Arg)
c.1334T>G (p.Met445Arg)
Xg.149482795A>GCA10537428IDSc.1604T>C (p.Met535Thr)
c.971T>C (p.Met324Thr)
c.1334T>C (p.Met445Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.149482795A>TCA10537429IDSc.1604T>A (p.Met535Lys)
c.971T>A (p.Met324Lys)
c.1334T>A (p.Met445Lys)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.149482796T>ACA414517715IDSc.1603A>T (p.Met535Leu)
c.970A>T (p.Met324Leu)
c.1333A>T (p.Met445Leu)
Xg.149482796T>CCA414517716IDSc.1603A>G (p.Met535Val)
c.970A>G (p.Met324Val)
c.1333A>G (p.Met445Val)
Xg.149482796T>GCA414517717IDSc.1603A>C (p.Met535Leu)
c.970A>C (p.Met324Leu)
c.1333A>C (p.Met445Leu)
Xg.149482797A>CCA414517718IDSc.1602T>G (p.Asn534Lys)
c.969T>G (p.Asn323Lys)
c.1332T>G (p.Asn444Lys)
Xg.149482797A>GCA519057389IDSc.1602T>C (p.Asn534=)
c.969T>C (p.Asn323=)
c.1332T>C (p.Asn444=)
Xg.149482797A>TCA414517719IDSc.1602T>A (p.Asn534Lys)
c.969T>A (p.Asn323Lys)
c.1332T>A (p.Asn444Lys)
Xg.149482798T>ACA414517720IDSc.1601A>T (p.Asn534Ile)
c.968A>T (p.Asn323Ile)
c.1331A>T (p.Asn444Ile)
Xg.149482798T>CCA414517722IDSc.1601A>G (p.Asn534Ser)
c.968A>G (p.Asn323Ser)
c.1331A>G (p.Asn444Ser)
Xg.149482798T>GCA414517721IDSc.1601A>C (p.Asn534Thr)
c.968A>C (p.Asn323Thr)
c.1331A>C (p.Asn444Thr)
Xg.149482799T>ACA414517723IDSc.1600A>T (p.Asn534Tyr)
c.967A>T (p.Asn323Tyr)
c.1330A>T (p.Asn444Tyr)
Xg.149482799T>CCA414517725IDSc.1600A>G (p.Asn534Asp)
c.967A>G (p.Asn323Asp)
c.1330A>G (p.Asn444Asp)
Xg.149482799T>GCA414517724IDSc.1600A>C (p.Asn534His)
c.967A>C (p.Asn323His)
c.1330A>C (p.Asn444His)
Xg.149482800G>ACA519057390IDSc.1599C>T (p.His533=)
c.966C>T (p.His322=)
c.1329C>T (p.His443=)
Xg.149482800G>CCA414517726IDSc.1599C>G (p.His533Gln)
c.966C>G (p.His322Gln)
c.1329C>G (p.His443Gln)
Xg.149482800G>TCA414517727IDSc.1599C>A (p.His533Gln)
c.966C>A (p.His322Gln)
c.1329C>A (p.His443Gln)
Xg.149482801T>ACA414517728IDSc.1598A>T (p.His533Leu)
c.965A>T (p.His322Leu)
c.1328A>T (p.His443Leu)
 ClinVar dbSNP
Xg.149482801T>CCA414517729IDSc.1598A>G (p.His533Arg)
c.965A>G (p.His322Arg)
c.1328A>G (p.His443Arg)
Xg.149482801T>GCA414517730IDSc.1598A>C (p.His533Pro)
c.965A>C (p.His322Pro)
c.1328A>C (p.His443Pro)
Xg.149482801T=CA2465003937IDSc.1598A= (p.His533=)
c.965A= (p.His322=)
c.1328A= (p.His443=)
Xg.149482802G>ACA414517731IDSc.1597C>T (p.His533Tyr)
c.964C>T (p.His322Tyr)
c.1327C>T (p.His443Tyr)
Xg.149482802G>CCA414517732IDSc.1597C>G (p.His533Asp)
c.964C>G (p.His322Asp)
c.1327C>G (p.His443Asp)
Xg.149482802G>TCA414517733IDSc.1597C>A (p.His533Asn)
c.964C>A (p.His322Asn)
c.1327C>A (p.His443Asn)
Xg.149482803A=CA2465003938IDSc.1596T= (p.Asp532=)
c.963T= (p.Asp321=)
c.1326T= (p.Asp442=)
Xg.149482803A>CCA414517734IDSc.1596T>G (p.Asp532Glu)
c.963T>G (p.Asp321Glu)
c.1326T>G (p.Asp442Glu)
Xg.149482803A>GCA519057391IDSc.1596T>C (p.Asp532=)
c.963T>C (p.Asp321=)
c.1326T>C (p.Asp442=)
 dbSNP gnomAD v2 gnomAD v4
Xg.149482803A>TCA414517735IDSc.1596T>A (p.Asp532Glu)
c.963T>A (p.Asp321Glu)
c.1326T>A (p.Asp442Glu)
Xg.149482804T>ACA10537430IDSc.1595A>T (p.Asp532Val)
c.962A>T (p.Asp321Val)
c.1325A>T (p.Asp442Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.149482804T>CCA414517736IDSc.1595A>G (p.Asp532Gly)
c.962A>G (p.Asp321Gly)
c.1325A>G (p.Asp442Gly)
 dbSNP gnomAD v3 gnomAD v4
Xg.149482804T>GCA414517737IDSc.1595A>C (p.Asp532Ala)
c.962A>C (p.Asp321Ala)
c.1325A>C (p.Asp442Ala)
Xg.149482804T=CA2465003939IDSc.1595A= (p.Asp532=)
c.962A= (p.Asp321=)
c.1325A= (p.Asp442=)
Xg.149482805C>ACA414517740IDSc.1594G>T (p.Asp532Tyr)
c.961G>T (p.Asp321Tyr)
c.1324G>T (p.Asp442Tyr)
Xg.149482805C=CA2465003940IDSc.1594G= (p.Asp532=)
c.961G= (p.Asp321=)
c.1324G= (p.Asp442=)
Xg.149482805C>GCA414517738IDSc.1594G>C (p.Asp532His)
c.961G>C (p.Asp321His)
c.1324G>C (p.Asp442His)
Xg.149482805C>TCA414517739IDSc.1594G>A (p.Asp532Asn)
c.961G>A (p.Asp321Asn)
c.1324G>A (p.Asp442Asn)
 dbSNP gnomAD v2 gnomAD v4
Xg.149482806C>ACA414517741IDSc.1593G>T (p.Gln531His)
c.960G>T (p.Gln320His)
c.1323G>T (p.Gln441His)
Xg.149482806C>GCA414517742IDSc.1593G>C (p.Gln531His)
c.960G>C (p.Gln320His)
c.1323G>C (p.Gln441His)
Xg.149482806C>TCA519057393IDSc.1593G>A (p.Gln531=)
c.960G>A (p.Gln320=)
c.1323G>A (p.Gln441=)
Xg.149482807T>ACA414517743IDSc.1592A>T (p.Gln531Leu)
c.959A>T (p.Gln320Leu)
c.1322A>T (p.Gln441Leu)
Xg.149482807T>CCA414517744IDSc.1592A>G (p.Gln531Arg)
c.959A>G (p.Gln320Arg)
c.1322A>G (p.Gln441Arg)
Xg.149482807T>GCA414517745IDSc.1592A>C (p.Gln531Pro)
c.959A>C (p.Gln320Pro)
c.1322A>C (p.Gln441Pro)
 gnomAD v4
Xg.149482808G>ACA10604994IDSc.1591C>T (p.Gln531Ter)
c.958C>T (p.Gln320Ter)
c.1321C>T (p.Gln441Ter)
 ClinVar dbSNP
Xg.149482808G>CCA414517746IDSc.1591C>G (p.Gln531Glu)
c.958C>G (p.Gln320Glu)
c.1321C>G (p.Gln441Glu)
Xg.149482808G=CA2465003941IDSc.1591C= (p.Gln531=)
c.958C= (p.Gln320=)
c.1321C= (p.Gln441=)
Xg.149482808G>TCA414517747IDSc.1591C>A (p.Gln531Lys)
c.958C>A (p.Gln320Lys)
c.1321C>A (p.Gln441Lys)
Xg.149482809C>ACA414517748IDSc.1590G>T (p.Leu530Phe)
c.957G>T (p.Leu319Phe)
c.1320G>T (p.Leu440Phe)
Xg.149482809C>GCA414517749IDSc.1590G>C (p.Leu530Phe)
c.957G>C (p.Leu319Phe)
c.1320G>C (p.Leu440Phe)
Xg.149482809C>TCA519057394IDSc.1590G>A (p.Leu530=)
c.957G>A (p.Leu319=)
c.1320G>A (p.Leu440=)
Xg.149482810A>CCA414517751IDSc.1589T>G (p.Leu530Trp)
c.956T>G (p.Leu319Trp)
c.1319T>G (p.Leu440Trp)
 gnomAD v4
Xg.149482810A>GCA414517752IDSc.1589T>C (p.Leu530Ser)
c.956T>C (p.Leu319Ser)
c.1319T>C (p.Leu440Ser)
Xg.149482810A>TCA414517750IDSc.1589T>A (p.Leu530Ter)
c.956T>A (p.Leu319Ter)
c.1319T>A (p.Leu440Ter)
 ClinVar dbSNP
Xg.149482811dupCA2573159286IDSc.1589dup (p.Leu530PhefsTer8)
c.956dup (p.Leu319PhefsTer8)
c.1319dup (p.Leu440PhefsTer8)
 ClinVar dbSNP
Xg.149482811A=CA2465003942IDSc.1588T= (p.Leu530=)
c.955T= (p.Leu319=)
c.1318T= (p.Leu440=)
Xg.149482811A>CCA414517753IDSc.1588T>G (p.Leu530Val)
c.955T>G (p.Leu319Val)
c.1318T>G (p.Leu440Val)
Xg.149482811A>GCA519057396IDSc.1588T>C (p.Leu530=)
c.955T>C (p.Leu319=)
c.1318T>C (p.Leu440=)
 ClinVar dbSNP gnomAD v4
Xg.149482811A>TCA414517754IDSc.1588T>A (p.Leu530Met)
c.955T>A (p.Leu319Met)
c.1318T>A (p.Leu440Met)
 gnomAD v4
Xg.149482812delCA2695236476IDSc.1587del (p.Leu530CysfsTer19)
c.954del (p.Leu319CysfsTer19)
c.1317del (p.Leu440CysfsTer19)
Xg.149482812T>ACA519057399IDSc.1587A>T (p.Pro529=)
c.954A>T (p.Pro318=)
c.1317A>T (p.Pro439=)
Xg.149482812T>CCA519057397IDSc.1587A>G (p.Pro529=)
c.954A>G (p.Pro318=)
c.1317A>G (p.Pro439=)
 ClinVar dbSNP gnomAD v4
Xg.149482812T>GCA519057398IDSc.1587A>C (p.Pro529=)
c.954A>C (p.Pro318=)
c.1317A>C (p.Pro439=)
Xg.149482812T=CA2465003943IDSc.1587A= (p.Pro529=)
c.954A= (p.Pro318=)
c.1317A= (p.Pro439=)
Xg.149482813G>ACA414517755IDSc.1586C>T (p.Pro529Leu)
c.953C>T (p.Pro318Leu)
c.1316C>T (p.Pro439Leu)
Xg.149482813G>CCA414517756IDSc.1586C>G (p.Pro529Arg)
c.953C>G (p.Pro318Arg)
c.1316C>G (p.Pro439Arg)
Xg.149482813G>TCA414517757IDSc.1586C>A (p.Pro529Gln)
c.953C>A (p.Pro318Gln)
c.1316C>A (p.Pro439Gln)
Xg.149482814G>ACA414517760IDSc.1585C>T (p.Pro529Ser)
c.952C>T (p.Pro318Ser)
c.1315C>T (p.Pro439Ser)
 dbSNP
Xg.149482814G>CCA414517758IDSc.1585C>G (p.Pro529Ala)
c.952C>G (p.Pro318Ala)
c.1315C>G (p.Pro439Ala)
Xg.149482814G=CA2465003944IDSc.1585C= (p.Pro529=)
c.952C= (p.Pro318=)
c.1315C= (p.Pro439=)
Xg.149482814G>TCA414517759IDSc.1585C>A (p.Pro529Thr)
c.952C>A (p.Pro318Thr)
c.1315C>A (p.Pro439Thr)
Xg.149482815G>ACA519057400IDSc.1584C>T (p.Asp528=)
c.951C>T (p.Asp317=)
c.1314C>T (p.Asp438=)
 ClinVar dbSNP gnomAD v4
Xg.149482815G>CCA414517761IDSc.1584C>G (p.Asp528Glu)
c.951C>G (p.Asp317Glu)
c.1314C>G (p.Asp438Glu)
Xg.149482815G>TCA414517763IDSc.1584C>A (p.Asp528Glu)
c.951C>A (p.Asp317Glu)
c.1314C>A (p.Asp438Glu)
Xg.149482816T>ACA414517764IDSc.1583A>T (p.Asp528Val)
c.950A>T (p.Asp317Val)
c.1313A>T (p.Asp438Val)
Xg.149482816T>CCA414517765IDSc.1583A>G (p.Asp528Gly)
c.950A>G (p.Asp317Gly)
c.1313A>G (p.Asp438Gly)
Xg.149482816T>GCA414517766IDSc.1583A>C (p.Asp528Ala)
c.950A>C (p.Asp317Ala)
c.1313A>C (p.Asp438Ala)
Xg.149482817C>ACA414517767IDSc.1582G>T (p.Asp528Tyr)
c.949G>T (p.Asp317Tyr)
c.1312G>T (p.Asp438Tyr)
Xg.149482817C>GCA414517769IDSc.1582G>C (p.Asp528His)
c.949G>C (p.Asp317His)
c.1312G>C (p.Asp438His)
Xg.149482817C>TCA414517768IDSc.1582G>A (p.Asp528Asn)
c.949G>A (p.Asp317Asn)
c.1312G>A (p.Asp438Asn)
Xg.149482818A>CCA519057401IDSc.1581T>G (p.Ser527=)
c.948T>G (p.Ser316=)
c.1311T>G (p.Ser437=)
Xg.149482818A>GCA519057402IDSc.1581T>C (p.Ser527=)
c.948T>C (p.Ser316=)
c.1311T>C (p.Ser437=)
Xg.149482818A>TCA519057403IDSc.1581T>A (p.Ser527=)
c.948T>A (p.Ser316=)
c.1311T>A (p.Ser437=)
Xg.149482819_149482832dupCA2695236477IDSc.1568_1581dup (p.Asp528IlefsTer26)
c.935_948dup (p.Asp317IlefsTer26)
c.1298_1311dup (p.Asp438IlefsTer26)
Xg.149482819G>ACA414517770IDSc.1580C>T (p.Ser527Phe)
c.947C>T (p.Ser316Phe)
c.1310C>T (p.Ser437Phe)
 gnomAD v4
Xg.149482819G>CCA414517771IDSc.1580C>G (p.Ser527Cys)
c.947C>G (p.Ser316Cys)
c.1310C>G (p.Ser437Cys)
Xg.149482819G>TCA414517772IDSc.1580C>A (p.Ser527Tyr)
c.947C>A (p.Ser316Tyr)
c.1310C>A (p.Ser437Tyr)
Xg.149482820A>CCA414517773IDSc.1579T>G (p.Ser527Ala)
c.946T>G (p.Ser316Ala)
c.1309T>G (p.Ser437Ala)
Xg.149482820A>GCA414517774IDSc.1579T>C (p.Ser527Pro)
c.946T>C (p.Ser316Pro)
c.1309T>C (p.Ser437Pro)
Xg.149482820A>TCA414517775IDSc.1579T>A (p.Ser527Thr)
c.946T>A (p.Ser316Thr)
c.1309T>A (p.Ser437Thr)
Xg.149482821A>CCA414517776IDSc.1578T>G (p.Asp526Glu)
c.945T>G (p.Asp315Glu)
c.1308T>G (p.Asp436Glu)
Xg.149482821A>GCA519057404IDSc.1578T>C (p.Asp526=)
c.945T>C (p.Asp315=)
c.1308T>C (p.Asp436=)
Xg.149482821A>TCA414517777IDSc.1578T>A (p.Asp526Glu)
c.945T>A (p.Asp315Glu)
c.1308T>A (p.Asp436Glu)
Xg.149482822T>ACA414517778IDSc.1577A>T (p.Asp526Val)
c.944A>T (p.Asp315Val)
c.1307A>T (p.Asp436Val)
Xg.149482822T>CCA414517779IDSc.1577A>G (p.Asp526Gly)
c.944A>G (p.Asp315Gly)
c.1307A>G (p.Asp436Gly)
Xg.149482822T>GCA414517780IDSc.1577A>C (p.Asp526Ala)
c.944A>C (p.Asp315Ala)
c.1307A>C (p.Asp436Ala)
Xg.149482823C>ACA10537431IDSc.1576G>T (p.Asp526Tyr)
c.943G>T (p.Asp315Tyr)
c.1306G>T (p.Asp436Tyr)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.149482823C=CA2465003945IDSc.1576G= (p.Asp526=)
c.943G= (p.Asp315=)
c.1306G= (p.Asp436=)
Xg.149482823C>GCA414517782IDSc.1576G>C (p.Asp526His)
c.943G>C (p.Asp315His)
c.1306G>C (p.Asp436His)
Xg.149482823C>TCA414517781IDSc.1576G>A (p.Asp526Asn)
c.943G>A (p.Asp315Asn)
c.1306G>A (p.Asp436Asn)
 COSMIC
Xg.149482824delCA2695236478IDSc.1576del (p.Asp526IlefsTer23)
c.943del (p.Asp315IlefsTer23)
c.1306del (p.Asp436IlefsTer23)
Xg.149482824C>ACA519057405IDSc.1575G>T (p.Val525=)
c.942G>T (p.Val314=)
c.1305G>T (p.Val435=)
Xg.149482824C>GCA519057406IDSc.1575G>C (p.Val525=)
c.942G>C (p.Val314=)
c.1305G>C (p.Val435=)
Xg.149482824C>TCA519057407IDSc.1575G>A (p.Val525=)
c.942G>A (p.Val314=)
c.1305G>A (p.Val435=)
Xg.149482825A>CCA414517785IDSc.1574T>G (p.Val525Gly)
c.941T>G (p.Val314Gly)
c.1304T>G (p.Val435Gly)
Xg.149482825A>GCA414517783IDSc.1574T>C (p.Val525Ala)
c.941T>C (p.Val314Ala)
c.1304T>C (p.Val435Ala)
Xg.149482825A>TCA414517784IDSc.1574T>A (p.Val525Glu)
c.941T>A (p.Val314Glu)
c.1304T>A (p.Val435Glu)
Xg.149482826C>ACA414517786IDSc.1573G>T (p.Val525Leu)
c.940G>T (p.Val314Leu)
c.1303G>T (p.Val435Leu)
Xg.149482826C>GCA414517787IDSc.1573G>C (p.Val525Leu)
c.940G>C (p.Val314Leu)
c.1303G>C (p.Val435Leu)
Xg.149482826C>TCA414517788IDSc.1573G>A (p.Val525Met)
c.940G>A (p.Val314Met)
c.1303G>A (p.Val435Met)
Xg.149482827A>CCA414517789IDSc.1572T>G (p.Phe524Leu)
c.939T>G (p.Phe313Leu)
c.1302T>G (p.Phe434Leu)
Xg.149482827A>GCA519057408IDSc.1572T>C (p.Phe524=)
c.939T>C (p.Phe313=)
c.1302T>C (p.Phe434=)
Xg.149482827A>TCA414517790IDSc.1572T>A (p.Phe524Leu)
c.939T>A (p.Phe313Leu)
c.1302T>A (p.Phe434Leu)
Xg.149482828A=CA2465003946IDSc.1571T= (p.Phe524=)
c.938T= (p.Phe313=)
c.1301T= (p.Phe434=)
Xg.149482828A>CCA414517791IDSc.1571T>G (p.Phe524Cys)
c.938T>G (p.Phe313Cys)
c.1301T>G (p.Phe434Cys)
Xg.149482828A>GCA414517792IDSc.1571T>C (p.Phe524Ser)
c.938T>C (p.Phe313Ser)
c.1301T>C (p.Phe434Ser)
Xg.149482828A>TCA337035521IDSc.1571T>A (p.Phe524Tyr)
c.938T>A (p.Phe313Tyr)
c.1301T>A (p.Phe434Tyr)
 dbSNP
Xg.149482829A>CCA414517793IDSc.1570T>G (p.Phe524Val)
c.937T>G (p.Phe313Val)
c.1300T>G (p.Phe434Val)
Xg.149482829A>GCA414517794IDSc.1570T>C (p.Phe524Leu)
c.937T>C (p.Phe313Leu)
c.1300T>C (p.Phe434Leu)
Xg.149482829A>TCA414517795IDSc.1570T>A (p.Phe524Ile)
c.937T>A (p.Phe313Ile)
c.1300T>A (p.Phe434Ile)
Xg.149482830A>CCA414517797IDSc.1569T>G (p.Tyr523Ter)
c.936T>G (p.Tyr312Ter)
c.1299T>G (p.Tyr433Ter)
Xg.149482830A>GCA519057409IDSc.1569T>C (p.Tyr523=)
c.936T>C (p.Tyr312=)
c.1299T>C (p.Tyr433=)
Xg.149482830A>TCA414517796IDSc.1569T>A (p.Tyr523Ter)
c.936T>A (p.Tyr312Ter)
c.1299T>A (p.Tyr433Ter)
Xg.149482831T>ACA414517798IDSc.1568A>T (p.Tyr523Phe)
c.935A>T (p.Tyr312Phe)
c.1298A>T (p.Tyr433Phe)
Xg.149482831T>CCA414517799IDSc.1568A>G (p.Tyr523Cys)
c.935A>G (p.Tyr312Cys)
c.1298A>G (p.Tyr433Cys)
 ClinVar dbSNP
Xg.149482831T>GCA414517800IDSc.1568A>C (p.Tyr523Ser)
c.935A>C (p.Tyr312Ser)
c.1298A>C (p.Tyr433Ser)
Xg.149482831T=CA2465003947IDSc.1568A= (p.Tyr523=)
c.935A= (p.Tyr312=)
c.1298A= (p.Tyr433=)
Xg.149482832A>CCA414517801IDSc.1567T>G (p.Tyr523Asp)
c.934T>G (p.Tyr312Asp)
c.1297T>G (p.Tyr433Asp)
Xg.149482832A>GCA414517802IDSc.1567T>C (p.Tyr523His)
c.934T>C (p.Tyr312His)
c.1297T>C (p.Tyr433His)
Xg.149482832A>TCA414517803IDSc.1567T>A (p.Tyr523Asn)
c.934T>A (p.Tyr312Asn)
c.1297T>A (p.Tyr433Asn)
Xg.149482832dupCA2695236479IDSc.1567dup (p.Tyr523LeufsTer6)
c.934dup (p.Tyr312LeufsTer6)
c.1297dup (p.Tyr433LeufsTer6)
Xg.149482833C>ACA519057414IDSc.1566G>T (p.Leu522=)
c.933G>T (p.Leu311=)
c.1296G>T (p.Leu432=)
Xg.149482833C>GCA519057413IDSc.1566G>C (p.Leu522=)
c.933G>C (p.Leu311=)
c.1296G>C (p.Leu432=)
Xg.149482833C>TCA519057411IDSc.1566G>A (p.Leu522=)
c.933G>A (p.Leu311=)
c.1296G>A (p.Leu432=)
 gnomAD v4
Xg.149482834A>CCA414517804IDSc.1565T>G (p.Leu522Arg)
c.932T>G (p.Leu311Arg)
c.1295T>G (p.Leu432Arg)
Xg.149482834A>GCA414517805IDSc.1565T>C (p.Leu522Pro)
c.932T>C (p.Leu311Pro)
c.1295T>C (p.Leu432Pro)
Xg.149482834A>TCA414517806IDSc.1565T>A (p.Leu522Gln)
c.932T>A (p.Leu311Gln)
c.1295T>A (p.Leu432Gln)
Xg.149482835G>ACA519057415IDSc.1564C>T (p.Leu522=)
c.931C>T (p.Leu311=)
c.1294C>T (p.Leu432=)
 ClinVar dbSNP gnomAD v4
Xg.149482835G>CCA414517807IDSc.1564C>G (p.Leu522Val)
c.931C>G (p.Leu311Val)
c.1294C>G (p.Leu432Val)
 gnomAD v4
Xg.149482835G>TCA414517808IDSc.1564C>A (p.Leu522Met)
c.931C>A (p.Leu311Met)
c.1294C>A (p.Leu432Met)
Xg.149482836T>ACA414517809IDSc.1563A>T (p.Glu521Asp)
c.930A>T (p.Glu310Asp)
c.1293A>T (p.Glu431Asp)
 ClinVar dbSNP
Xg.149482836T>CCA519057416IDSc.1563A>G (p.Glu521=)
c.930A>G (p.Glu310=)
c.1293A>G (p.Glu431=)
Xg.149482836T>GCA414517810IDSc.1563A>C (p.Glu521Asp)
c.930A>C (p.Glu310Asp)
c.1293A>C (p.Glu431Asp)
Xg.149482836T=CA2465003948IDSc.1563A= (p.Glu521=)
c.930A= (p.Glu310=)
c.1293A= (p.Glu431=)
Xg.149482837delCA2695236480IDSc.1563del (p.Glu521AspfsTer28)
c.930del (p.Glu310AspfsTer28)
c.1293del (p.Glu431AspfsTer28)
Xg.149482837T>ACA414517813IDSc.1562A>T (p.Glu521Val)
c.929A>T (p.Glu310Val)
c.1292A>T (p.Glu431Val)
Xg.149482837T>CCA414517812IDSc.1562A>G (p.Glu521Gly)
c.929A>G (p.Glu310Gly)
c.1292A>G (p.Glu431Gly)
Xg.149482837T>GCA414517811IDSc.1562A>C (p.Glu521Ala)
c.929A>C (p.Glu310Ala)
c.1292A>C (p.Glu431Ala)
Xg.149482838C>ACA414517814IDSc.1561G>T (p.Glu521Ter)
c.928G>T (p.Glu310Ter)
c.1291G>T (p.Glu431Ter)
Xg.149482838C>GCA414517815IDSc.1561G>C (p.Glu521Gln)
c.928G>C (p.Glu310Gln)
c.1291G>C (p.Glu431Gln)
Xg.149482838C>TCA414517816IDSc.1561G>A (p.Glu521Lys)
c.928G>A (p.Glu310Lys)
c.1291G>A (p.Glu431Lys)
 ClinVar dbSNP COSMIC
Xg.149482841dupCA2573159287IDSc.1561dup (p.Glu521GlyfsTer8)
c.928dup (p.Glu310GlyfsTer8)
c.1291dup (p.Glu431GlyfsTer8)
 ClinVar dbSNP
Xg.149482841delCA2739289610IDSc.1561del (p.Glu521AsnfsTer28)
c.928del (p.Glu310AsnfsTer28)
c.1291del (p.Glu431AsnfsTer28)
Xg.149482839C>ACA519057417IDSc.1560G>T (p.Gly520=)
c.927G>T (p.Gly309=)
c.1290G>T (p.Gly430=)
Xg.149482839C=CA2465003949IDSc.1560G= (p.Gly520=)
c.927G= (p.Gly309=)
c.1290G= (p.Gly430=)
Xg.149482839C>GCA519057418IDSc.1560G>C (p.Gly520=)
c.927G>C (p.Gly309=)
c.1290G>C (p.Gly430=)
Xg.149482839C>TCA10537432IDSc.1560G>A (p.Gly520=)
c.927G>A (p.Gly309=)
c.1290G>A (p.Gly430=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.149482840C>ACA414517817IDSc.1559G>T (p.Gly520Val)
c.926G>T (p.Gly309Val)
c.1289G>T (p.Gly430Val)
Xg.149482840C>GCA414517818IDSc.1559G>C (p.Gly520Ala)
c.926G>C (p.Gly309Ala)
c.1289G>C (p.Gly430Ala)
Xg.149482840C>TCA414517819IDSc.1559G>A (p.Gly520Glu)
c.926G>A (p.Gly309Glu)
c.1289G>A (p.Gly430Glu)
Xg.149482841C>ACA414517820IDSc.1558G>T (p.Gly520Trp)
c.925G>T (p.Gly309Trp)
c.1288G>T (p.Gly430Trp)
Xg.149482841C>GCA414517821IDSc.1558G>C (p.Gly520Arg)
c.925G>C (p.Gly309Arg)
c.1288G>C (p.Gly430Arg)
Xg.149482841C>TCA414517822IDSc.1558G>A (p.Gly520Arg)
c.925G>A (p.Gly309Arg)
c.1288G>A (p.Gly430Arg)
Xg.149482842T>ACA519057419IDSc.1557A>T (p.Ala519=)
c.924A>T (p.Ala308=)
c.1287A>T (p.Ala429=)
Xg.149482842T>CCA519057420IDSc.1557A>G (p.Ala519=)
c.924A>G (p.Ala308=)
c.1287A>G (p.Ala429=)
Xg.149482842T>GCA519057421IDSc.1557A>C (p.Ala519=)
c.924A>C (p.Ala308=)
c.1287A>C (p.Ala429=)
Xg.149482843G>ACA414517823IDSc.1556C>T (p.Ala519Val)
c.923C>T (p.Ala308Val)
c.1286C>T (p.Ala429Val)
Xg.149482843G>CCA414517824IDSc.1556C>G (p.Ala519Gly)
c.923C>G (p.Ala308Gly)
c.1286C>G (p.Ala429Gly)
Xg.149482843G>TCA414517825IDSc.1556C>A (p.Ala519Glu)
c.923C>A (p.Ala308Glu)
c.1286C>A (p.Ala429Glu)
Xg.149482844C>ACA414517828IDSc.1555G>T (p.Ala519Ser)
c.922G>T (p.Ala308Ser)
c.1285G>T (p.Ala429Ser)
 dbSNP gnomAD v3 gnomAD v4
Xg.149482844C=CA2465003950IDSc.1555G= (p.Ala519=)
c.922G= (p.Ala308=)
c.1285G= (p.Ala429=)
Xg.149482844C>GCA414517826IDSc.1555G>C (p.Ala519Pro)
c.922G>C (p.Ala308Pro)
c.1285G>C (p.Ala429Pro)
Xg.149482844C>TCA414517827IDSc.1555G>A (p.Ala519Thr)
c.922G>A (p.Ala308Thr)
c.1285G>A (p.Ala429Thr)
Xg.149482845A>CCA414517829IDSc.1554T>G (p.His518Gln)
c.921T>G (p.His307Gln)
c.1284T>G (p.His428Gln)
Xg.149482845A>GCA519057423IDSc.1554T>C (p.His518=)
c.921T>C (p.His307=)
c.1284T>C (p.His428=)
Xg.149482845A>TCA414517830IDSc.1554T>A (p.His518Gln)
c.921T>A (p.His307Gln)
c.1284T>A (p.His428Gln)
Xg.149482846T>ACA414517832IDSc.1553A>T (p.His518Leu)
c.920A>T (p.His307Leu)
c.1283A>T (p.His428Leu)
Xg.149482846T>CCA414517834IDSc.1553A>G (p.His518Arg)
c.920A>G (p.His307Arg)
c.1283A>G (p.His428Arg)
Xg.149482846T>GCA414517835IDSc.1553A>C (p.His518Pro)
c.920A>C (p.His307Pro)
c.1283A>C (p.His428Pro)
Xg.149482847G>ACA414517836IDSc.1552C>T (p.His518Tyr)
c.919C>T (p.His307Tyr)
c.1282C>T (p.His428Tyr)
Xg.149482847G>CCA10537433IDSc.1552C>G (p.His518Asp)
c.919C>G (p.His307Asp)
c.1282C>G (p.His428Asp)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.149482847G=CA2465003951IDSc.1552C= (p.His518=)
c.919C= (p.His307=)
c.1282C= (p.His428=)
Xg.149482847G>TCA414517837IDSc.1552C>A (p.His518Asn)
c.919C>A (p.His307Asn)
c.1282C>A (p.His428Asn)
Xg.149482848G>ACA519057426IDSc.1551C>T (p.Ile517=)
c.918C>T (p.Ile306=)
c.1281C>T (p.Ile427=)
Xg.149482848G>CCA414517838IDSc.1551C>G (p.Ile517Met)
c.918C>G (p.Ile306Met)
c.1281C>G (p.Ile427Met)
Xg.149482848G>TCA519057424IDSc.1551C>A (p.Ile517=)
c.918C>A (p.Ile306=)
c.1281C>A (p.Ile427=)
Xg.149482849A>CCA414517839IDSc.1550T>G (p.Ile517Ser)
c.917T>G (p.Ile306Ser)
c.1280T>G (p.Ile427Ser)
Xg.149482849A>GCA414517840IDSc.1550T>C (p.Ile517Thr)
c.917T>C (p.Ile306Thr)
c.1280T>C (p.Ile427Thr)
Xg.149482849A>TCA414517841IDSc.1550T>A (p.Ile517Asn)
c.917T>A (p.Ile306Asn)
c.1280T>A (p.Ile427Asn)
Xg.149482850T>ACA414517844IDSc.1549A>T (p.Ile517Phe)
c.916A>T (p.Ile306Phe)
c.1279A>T (p.Ile427Phe)
Xg.149482850T>CCA414517843IDSc.1549A>G (p.Ile517Val)
c.916A>G (p.Ile306Val)
c.1279A>G (p.Ile427Val)
 dbSNP
Xg.149482850T>GCA414517842IDSc.1549A>C (p.Ile517Leu)
c.916A>C (p.Ile306Leu)
c.1279A>C (p.Ile427Leu)
Xg.149482850T=CA2465003952IDSc.1549A= (p.Ile517=)
c.916A= (p.Ile306=)
c.1279A= (p.Ile427=)
Xg.149482851G>ACA10537434IDSc.1548C>T (p.Asp516=)
c.915C>T (p.Asp305=)
c.1278C>T (p.Asp426=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
Xg.149482851G>CCA414517846IDSc.1548C>G (p.Asp516Glu)
c.915C>G (p.Asp305Glu)
c.1278C>G (p.Asp426Glu)
Xg.149482851G=CA2465003953IDSc.1548C= (p.Asp516=)
c.915C= (p.Asp305=)
c.1278C= (p.Asp426=)
Xg.149482851G>TCA414517845IDSc.1548C>A (p.Asp516Glu)
c.915C>A (p.Asp305Glu)
c.1278C>A (p.Asp426Glu)
Xg.149482852T>ACA414517847IDSc.1547A>T (p.Asp516Val)
c.914A>T (p.Asp305Val)
c.1277A>T (p.Asp426Val)
Xg.149482852T>CCA414517849IDSc.1547A>G (p.Asp516Gly)
c.914A>G (p.Asp305Gly)
c.1277A>G (p.Asp426Gly)
Xg.149482852T>GCA414517848IDSc.1547A>C (p.Asp516Ala)
c.914A>C (p.Asp305Ala)
c.1277A>C (p.Asp426Ala)
Xg.149482853C>ACA414517850IDSc.1546G>T (p.Asp516Tyr)
c.913G>T (p.Asp305Tyr)
c.1276G>T (p.Asp426Tyr)
Xg.149482853C>GCA414517852IDSc.1546G>C (p.Asp516His)
c.913G>C (p.Asp305His)
c.1276G>C (p.Asp426His)
Xg.149482853C>TCA414517851IDSc.1546G>A (p.Asp516Asn)
c.913G>A (p.Asp305Asn)
c.1276G>A (p.Asp426Asn)
Xg.149482854A>CCA519057427IDSc.1545T>G (p.Ser515=)
c.912T>G (p.Ser304=)
c.1275T>G (p.Ser425=)
Xg.149482854A>GCA519057428IDSc.1545T>C (p.Ser515=)
c.912T>C (p.Ser304=)
c.1275T>C (p.Ser425=)
Xg.149482854A>TCA519057429IDSc.1545T>A (p.Ser515=)
c.912T>A (p.Ser304=)
c.1275T>A (p.Ser425=)
Xg.149482855G>ACA414517853IDSc.1544C>T (p.Ser515Phe)
c.911C>T (p.Ser304Phe)
c.1274C>T (p.Ser425Phe)
Xg.149482855G>CCA414517854IDSc.1544C>G (p.Ser515Cys)
c.911C>G (p.Ser304Cys)
c.1274C>G (p.Ser425Cys)
Xg.149482855G>TCA414517855IDSc.1544C>A (p.Ser515Tyr)
c.911C>A (p.Ser304Tyr)
c.1274C>A (p.Ser425Tyr)
 gnomAD v4
Xg.149482856A>CCA414517856IDSc.1543T>G (p.Ser515Ala)
c.910T>G (p.Ser304Ala)
c.1273T>G (p.Ser425Ala)
Xg.149482856A>GCA414517857IDSc.1543T>C (p.Ser515Pro)
c.910T>C (p.Ser304Pro)
c.1273T>C (p.Ser425Pro)
Xg.149482856A>TCA414517858IDSc.1543T>A (p.Ser515Thr)
c.910T>A (p.Ser304Thr)
c.1273T>A (p.Ser425Thr)
Xg.149482857A>CCA414517859IDSc.1542T>G (p.Phe514Leu)
c.909T>G (p.Phe303Leu)
c.1272T>G (p.Phe424Leu)
Xg.149482857A>GCA519057430IDSc.1542T>C (p.Phe514=)
c.909T>C (p.Phe303=)
c.1272T>C (p.Phe424=)
Xg.149482857A>TCA414517860IDSc.1542T>A (p.Phe514Leu)
c.909T>A (p.Phe303Leu)
c.1272T>A (p.Phe424Leu)
Xg.149482858A>CCA414517861IDSc.1541T>G (p.Phe514Cys)
c.908T>G (p.Phe303Cys)
c.1271T>G (p.Phe424Cys)
Xg.149482858A>GCA414517862IDSc.1541T>C (p.Phe514Ser)
c.908T>C (p.Phe303Ser)
c.1271T>C (p.Phe424Ser)
Xg.149482858A>TCA414517863IDSc.1541T>A (p.Phe514Tyr)
c.908T>A (p.Phe303Tyr)
c.1271T>A (p.Phe424Tyr)
Xg.149482859A=CA2465003954IDSc.1540T= (p.Phe514=)
c.907T= (p.Phe303=)
c.1270T= (p.Phe424=)
Xg.149482859A>CCA414517864IDSc.1540T>G (p.Phe514Val)
c.907T>G (p.Phe303Val)
c.1270T>G (p.Phe424Val)
Xg.149482859A>GCA414517866IDSc.1540T>C (p.Phe514Leu)
c.907T>C (p.Phe303Leu)
c.1270T>C (p.Phe424Leu)
 dbSNP gnomAD v2 gnomAD v4
Xg.149482859A>TCA414517865IDSc.1540T>A (p.Phe514Ile)
c.907T>A (p.Phe303Ile)
c.1270T>A (p.Phe424Ile)
 gnomAD v4
Xg.149482860G>ACA519057431IDSc.1539C>T (p.Asn513=)
c.906C>T (p.Asn302=)
c.1269C>T (p.Asn423=)
 ClinVar gnomAD v4
Xg.149482860G>CCA414517867IDSc.1539C>G (p.Asn513Lys)
c.906C>G (p.Asn302Lys)
c.1269C>G (p.Asn423Lys)
Xg.149482860G=CA2465003955IDSc.1539C= (p.Asn513=)
c.906C= (p.Asn302=)
c.1269C= (p.Asn423=)
Xg.149482860G>TCA414517868IDSc.1539C>A (p.Asn513Lys)
c.906C>A (p.Asn302Lys)
c.1269C>A (p.Asn423Lys)
 dbSNP gnomAD v2 gnomAD v4
Xg.149482861T>ACA414517869IDSc.1538A>T (p.Asn513Ile)
c.905A>T (p.Asn302Ile)
c.1268A>T (p.Asn423Ile)
Xg.149482861T>CCA414517870IDSc.1538A>G (p.Asn513Ser)
c.905A>G (p.Asn302Ser)
c.1268A>G (p.Asn423Ser)
Xg.149482861T>GCA414517871IDSc.1538A>C (p.Asn513Thr)
c.905A>C (p.Asn302Thr)
c.1268A>C (p.Asn423Thr)
 COSMIC
Xg.149482862T>ACA414517872IDSc.1537A>T (p.Asn513Tyr)
c.904A>T (p.Asn302Tyr)
c.1267A>T (p.Asn423Tyr)
Xg.149482862T>CCA414517873IDSc.1537A>G (p.Asn513Asp)
c.904A>G (p.Asn302Asp)
c.1267A>G (p.Asn423Asp)
Xg.149482862T>GCA414517874IDSc.1537A>C (p.Asn513His)
c.904A>C (p.Asn302His)
c.1267A>C (p.Asn423His)
Xg.149482863A=CA2465003956IDSc.1536T= (p.Ala512=)
c.903T= (p.Ala301=)
c.1266T= (p.Ala422=)
Xg.149482863A>CCA519057432IDSc.1536T>G (p.Ala512=)
c.903T>G (p.Ala301=)
c.1266T>G (p.Ala422=)
Xg.149482863A>GCA519057433IDSc.1536T>C (p.Ala512=)
c.903T>C (p.Ala301=)
c.1266T>C (p.Ala422=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.149482863A>TCA10537435IDSc.1536T>A (p.Ala512=)
c.903T>A (p.Ala301=)
c.1266T>A (p.Ala422=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.149482864G>ACA414517876IDSc.1535C>T (p.Ala512Val)
c.902C>T (p.Ala301Val)
c.1265C>T (p.Ala422Val)
Xg.149482864G>CCA414517877IDSc.1535C>G (p.Ala512Gly)
c.902C>G (p.Ala301Gly)
c.1265C>G (p.Ala422Gly)
Xg.149482864G>TCA414517875IDSc.1535C>A (p.Ala512Asp)
c.902C>A (p.Ala301Asp)
c.1265C>A (p.Ala422Asp)
Xg.149482864_149482874delCA2694908955IDSc.1525_1535del (p.Glu509Ter)
c.892_902del (p.Glu298Ter)
c.1255_1265del (p.Glu419Ter)
 gnomAD v4
Xg.149482865C>ACA414517878IDSc.1534G>T (p.Ala512Ser)
c.901G>T (p.Ala301Ser)
c.1264G>T (p.Ala422Ser)
Xg.149482865C>GCA414517879IDSc.1534G>C (p.Ala512Pro)
c.901G>C (p.Ala301Pro)
c.1264G>C (p.Ala422Pro)
 gnomAD v4
Xg.149482865C>TCA414517880IDSc.1534G>A (p.Ala512Thr)
c.901G>A (p.Ala301Thr)
c.1264G>A (p.Ala422Thr)
 gnomAD v4
Xg.149482866T>ACA519057434IDSc.1533A>T (p.Leu511=)
c.900A>T (p.Leu300=)
c.1263A>T (p.Leu421=)
Xg.149482866T>CCA519057435IDSc.1533A>G (p.Leu511=)
c.900A>G (p.Leu300=)
c.1263A>G (p.Leu421=)
Xg.149482866T>GCA519057436IDSc.1533A>C (p.Leu511=)
c.900A>C (p.Leu300=)
c.1263A>C (p.Leu421=)
Xg.149482867A>CCA414517881IDSc.1532T>G (p.Leu511Arg)
c.899T>G (p.Leu300Arg)
c.1262T>G (p.Leu421Arg)
Xg.149482867A>GCA414517882IDSc.1532T>C (p.Leu511Pro)
c.899T>C (p.Leu300Pro)
c.1262T>C (p.Leu421Pro)
Xg.149482867A>TCA414517883IDSc.1532T>A (p.Leu511Gln)
c.899T>A (p.Leu300Gln)
c.1262T>A (p.Leu421Gln)
Xg.149482868G>ACA10537436IDSc.1531C>T (p.Leu511=)
c.898C>T (p.Leu300=)
c.1261C>T (p.Leu421=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
Xg.149482868G>CCA414517884IDSc.1531C>G (p.Leu511Val)
c.898C>G (p.Leu300Val)
c.1261C>G (p.Leu421Val)
Xg.149482868G=CA2465003957IDSc.1531C= (p.Leu511=)
c.898C= (p.Leu300=)
c.1261C= (p.Leu421=)
Xg.149482868G>TCA414517885IDSc.1531C>A (p.Leu511Ile)
c.898C>A (p.Leu300Ile)
c.1261C>A (p.Leu421Ile)
Xg.149482869A>CCA414517886IDSc.1530T>G (p.Phe510Leu)
c.897T>G (p.Phe299Leu)
c.1260T>G (p.Phe420Leu)
Xg.149482869A>GCA519057439IDSc.1530T>C (p.Phe510=)
c.897T>C (p.Phe299=)
c.1260T>C (p.Phe420=)
Xg.149482869A>TCA414517887IDSc.1530T>A (p.Phe510Leu)
c.897T>A (p.Phe299Leu)
c.1260T>A (p.Phe420Leu)
Xg.149482870A>CCA414517890IDSc.1529T>G (p.Phe510Cys)
c.896T>G (p.Phe299Cys)
c.1259T>G (p.Phe420Cys)
Xg.149482870A>GCA414517889IDSc.1529T>C (p.Phe510Ser)
c.896T>C (p.Phe299Ser)
c.1259T>C (p.Phe420Ser)
Xg.149482870A>TCA414517888IDSc.1529T>A (p.Phe510Tyr)
c.896T>A (p.Phe299Tyr)
c.1259T>A (p.Phe420Tyr)
Xg.149482871A>CCA414517891IDSc.1528T>G (p.Phe510Val)
c.895T>G (p.Phe299Val)
c.1258T>G (p.Phe420Val)
Xg.149482871A>GCA414517892IDSc.1528T>C (p.Phe510Leu)
c.895T>C (p.Phe299Leu)
c.1258T>C (p.Phe420Leu)
Xg.149482871A>TCA414517893IDSc.1528T>A (p.Phe510Ile)
c.895T>A (p.Phe299Ile)
c.1258T>A (p.Phe420Ile)
Xg.149482872T>ACA414517894IDSc.1527A>T (p.Glu509Asp)
c.894A>T (p.Glu298Asp)
c.1257A>T (p.Glu419Asp)
Xg.149482872T>CCA519057440IDSc.1527A>G (p.Glu509=)
c.894A>G (p.Glu298=)
c.1257A>G (p.Glu419=)
 dbSNP gnomAD v4
Xg.149482872T>GCA414517895IDSc.1527A>C (p.Glu509Asp)
c.894A>C (p.Glu298Asp)
c.1257A>C (p.Glu419Asp)
Xg.149482872T=CA2465003958IDSc.1527A= (p.Glu509=)
c.894A= (p.Glu298=)
c.1257A= (p.Glu419=)
Xg.149482873T>ACA414517896IDSc.1526A>T (p.Glu509Val)
c.893A>T (p.Glu298Val)
c.1256A>T (p.Glu419Val)
Xg.149482873T>CCA414517897IDSc.1526A>G (p.Glu509Gly)
c.893A>G (p.Glu298Gly)
c.1256A>G (p.Glu419Gly)
Xg.149482873T>GCA414517898IDSc.1526A>C (p.Glu509Ala)
c.893A>C (p.Glu298Ala)
c.1256A>C (p.Glu419Ala)
Xg.149482874C>ACA414517899IDSc.1525G>T (p.Glu509Ter)
c.892G>T (p.Glu298Ter)
c.1255G>T (p.Glu419Ter)
Xg.149482874C>GCA414517900IDSc.1525G>C (p.Glu509Gln)
c.892G>C (p.Glu298Gln)
c.1255G>C (p.Glu419Gln)
Xg.149482874C>TCA414517901IDSc.1525G>A (p.Glu509Lys)
c.892G>A (p.Glu298Lys)
c.1255G>A (p.Glu419Lys)
 COSMIC
Xg.149482875A>CCA414517902IDSc.1524T>G (p.Asp508Glu)
c.891T>G (p.Asp297Glu)
c.1254T>G (p.Asp418Glu)
Xg.149482875A>GCA519057441IDSc.1524T>C (p.Asp508=)
c.891T>C (p.Asp297=)
c.1254T>C (p.Asp418=)
Xg.149482875A>TCA414517903IDSc.1524T>A (p.Asp508Glu)
c.891T>A (p.Asp297Glu)
c.1254T>A (p.Asp418Glu)
Xg.149482876T>ACA414517905IDSc.1523A>T (p.Asp508Val)
c.890A>T (p.Asp297Val)
c.1253A>T (p.Asp418Val)
Xg.149482876T>CCA414517906IDSc.1523A>G (p.Asp508Gly)
c.890A>G (p.Asp297Gly)
c.1253A>G (p.Asp418Gly)
Xg.149482876T>GCA414517904IDSc.1523A>C (p.Asp508Ala)
c.890A>C (p.Asp297Ala)
c.1253A>C (p.Asp418Ala)
Xg.149482877C>ACA414517909IDSc.1522G>T (p.Asp508Tyr)
c.889G>T (p.Asp297Tyr)
c.1252G>T (p.Asp418Tyr)
Xg.149482877C>GCA414517907IDSc.1522G>C (p.Asp508His)
c.889G>C (p.Asp297His)
c.1252G>C (p.Asp418His)
Xg.149482877C>TCA414517908IDSc.1522G>A (p.Asp508Asn)
c.889G>A (p.Asp297Asn)
c.1252G>A (p.Asp418Asn)
Xg.149482878A>CCA519057442IDSc.1521T>G (p.Pro507=)
c.888T>G (p.Pro296=)
c.1251T>G (p.Pro417=)
Xg.149482878A>GCA519057443IDSc.1521T>C (p.Pro507=)
c.888T>C (p.Pro296=)
c.1251T>C (p.Pro417=)
Xg.149482878A>TCA519057444IDSc.1521T>A (p.Pro507=)
c.888T>A (p.Pro296=)
c.1251T>A (p.Pro417=)
Xg.149482879G>ACA414517910IDSc.1520C>T (p.Pro507Leu)
c.887C>T (p.Pro296Leu)
c.1250C>T (p.Pro417Leu)
Xg.149482879G>CCA414517911IDSc.1520C>G (p.Pro507Arg)
c.887C>G (p.Pro296Arg)
c.1250C>G (p.Pro417Arg)
Xg.149482879G>TCA414517912IDSc.1520C>A (p.Pro507His)
c.887C>A (p.Pro296His)
c.1250C>A (p.Pro417His)
Xg.149482880G>ACA414517913IDSc.1519C>T (p.Pro507Ser)
c.886C>T (p.Pro296Ser)
c.1249C>T (p.Pro417Ser)
Xg.149482880G>CCA414517914IDSc.1519C>G (p.Pro507Ala)
c.886C>G (p.Pro296Ala)
c.1249C>G (p.Pro417Ala)
Xg.149482880G>TCA414517915IDSc.1519C>A (p.Pro507Thr)
c.886C>A (p.Pro296Thr)
c.1249C>A (p.Pro417Thr)

Number of alleles fetched