Chr Mutation (hg38) CAid Gene Transcript Linkouts
9g.36219937A>CCA373425681CLTA,GNEc.1810T>G (p.Ser604Ala)
c.1540T>G (p.Ser514Ala)
c.1717T>G (p.Ser573Ala)
c.1495T>G (p.Ser499Ala)
c.485+15758A>C (n.485+15758A>C)
c.1387T>G (p.Ser463Ala)
c.1702T>G (p.Ser568Ala)
c.1657T>G (p.Ser553Ala)
c.1564T>G (p.Ser522Ala)
9g.36219937A>GCA373425682CLTA,GNEc.1810T>C (p.Ser604Pro)
c.1540T>C (p.Ser514Pro)
c.1717T>C (p.Ser573Pro)
c.1495T>C (p.Ser499Pro)
c.485+15758A>G (n.485+15758A>G)
c.1387T>C (p.Ser463Pro)
c.1702T>C (p.Ser568Pro)
c.1657T>C (p.Ser553Pro)
c.1564T>C (p.Ser522Pro)
9g.36219937A>TCA373425683CLTA,GNEc.1810T>A (p.Ser604Thr)
c.1540T>A (p.Ser514Thr)
c.1717T>A (p.Ser573Thr)
c.1495T>A (p.Ser499Thr)
c.485+15758A>T (n.485+15758A>T)
c.1387T>A (p.Ser463Thr)
c.1702T>A (p.Ser568Thr)
c.1657T>A (p.Ser553Thr)
c.1564T>A (p.Ser522Thr)
 ClinVar dbSNP
9g.36219938C>ACA464494988CLTA,GNEc.1809G>T (p.Val603=)
c.1539G>T (p.Val513=)
c.1716G>T (p.Val572=)
c.1494G>T (p.Val498=)
c.485+15759C>A (n.485+15759C>A)
c.1386G>T (p.Val462=)
c.1701G>T (p.Val567=)
c.1656G>T (p.Val552=)
c.1563G>T (p.Val521=)
9g.36219938C=CA1846328697CLTA,GNEc.1809G= (p.Val603=)
c.1539G= (p.Val513=)
c.1716G= (p.Val572=)
c.1494G= (p.Val498=)
c.485+15759C= (n.485+15759C=)
c.1386G= (p.Val462=)
c.1701G= (p.Val567=)
c.1656G= (p.Val552=)
c.1563G= (p.Val521=)
9g.36219938C>GCA464494989CLTA,GNEc.1809G>C (p.Val603=)
c.1539G>C (p.Val513=)
c.1716G>C (p.Val572=)
c.1494G>C (p.Val498=)
c.485+15759C>G (n.485+15759C>G)
c.1386G>C (p.Val462=)
c.1701G>C (p.Val567=)
c.1656G>C (p.Val552=)
c.1563G>C (p.Val521=)
9g.36219938C>TCA464494990CLTA,GNEc.1809G>A (p.Val603=)
c.1539G>A (p.Val513=)
c.1716G>A (p.Val572=)
c.1494G>A (p.Val498=)
c.485+15759C>T (n.485+15759C>T)
c.1386G>A (p.Val462=)
c.1701G>A (p.Val567=)
c.1656G>A (p.Val552=)
c.1563G>A (p.Val521=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
9g.36219938_36219941delinsCACACA1846328696CLTA,GNEc.1806_1809delinsTGTG (p.Val602=)
c.1536_1539delinsTGTG (p.Val512=)
c.1713_1716delinsTGTG (p.Val571=)
c.1491_1494delinsTGTG (p.Val497=)
c.485+15759_485+15762delinsCACA (n.485+15759_485+15762delinsCACA)
c.1383_1386delinsTGTG (p.Val461=)
c.1698_1701delinsTGTG (p.Val566=)
c.1653_1656delinsTGTG (p.Val551=)
c.1560_1563delinsTGTG (p.Val520=)
9g.36219939A>CCA373425684CLTA,GNEc.1808T>G (p.Val603Gly)
c.1538T>G (p.Val513Gly)
c.1715T>G (p.Val572Gly)
c.1493T>G (p.Val498Gly)
c.485+15760A>C (n.485+15760A>C)
c.1385T>G (p.Val462Gly)
c.1700T>G (p.Val567Gly)
c.1655T>G (p.Val552Gly)
c.1562T>G (p.Val521Gly)
9g.36219939A>GCA373425685CLTA,GNEc.1808T>C (p.Val603Ala)
c.1538T>C (p.Val513Ala)
c.1715T>C (p.Val572Ala)
c.1493T>C (p.Val498Ala)
c.485+15760A>G (n.485+15760A>G)
c.1385T>C (p.Val462Ala)
c.1700T>C (p.Val567Ala)
c.1655T>C (p.Val552Ala)
c.1562T>C (p.Val521Ala)
9g.36219939A>TCA373425686CLTA,GNEc.1808T>A (p.Val603Glu)
c.1538T>A (p.Val513Glu)
c.1715T>A (p.Val572Glu)
c.1493T>A (p.Val498Glu)
c.485+15760A>T (n.485+15760A>T)
c.1385T>A (p.Val462Glu)
c.1700T>A (p.Val567Glu)
c.1655T>A (p.Val552Glu)
c.1562T>A (p.Val521Glu)
9g.36219943_36219945delCA5056433CLTA,GNEc.1806_1808del (p.Val603del)
c.1536_1538del (p.Val513del)
c.1713_1715del (p.Val572del)
c.1491_1493del (p.Val498del)
c.485+15764_485+15766del (n.485+15764_485+15766del)
c.1383_1385del (p.Val462del)
c.1698_1700del (p.Val567del)
c.1653_1655del (p.Val552del)
c.1560_1562del (p.Val521del)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
9g.36219940C>ACA373425687CLTA,GNEc.1807G>T (p.Val603Leu)
c.1537G>T (p.Val513Leu)
c.1714G>T (p.Val572Leu)
c.1492G>T (p.Val498Leu)
c.485+15761C>A (n.485+15761C>A)
c.1384G>T (p.Val462Leu)
c.1699G>T (p.Val567Leu)
c.1654G>T (p.Val552Leu)
c.1561G>T (p.Val521Leu)
 gnomAD v4
9g.36219940C=CA1846328712CLTA,GNEc.1807G= (p.Val603=)
c.1537G= (p.Val513=)
c.1714G= (p.Val572=)
c.1492G= (p.Val498=)
c.485+15761C= (n.485+15761C=)
c.1384G= (p.Val462=)
c.1699G= (p.Val567=)
c.1654G= (p.Val552=)
c.1561G= (p.Val521=)
9g.36219940C>GCA274932CLTA,GNEc.1807G>C (p.Val603Leu)
c.1537G>C (p.Val513Leu)
c.1714G>C (p.Val572Leu)
c.1492G>C (p.Val498Leu)
c.485+15761C>G (n.485+15761C>G)
c.1384G>C (p.Val462Leu)
c.1699G>C (p.Val567Leu)
c.1654G>C (p.Val552Leu)
c.1561G>C (p.Val521Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.36219940C>TCA373425688CLTA,GNEc.1807G>A (p.Val603Met)
c.1537G>A (p.Val513Met)
c.1714G>A (p.Val572Met)
c.1492G>A (p.Val498Met)
c.485+15761C>T (n.485+15761C>T)
c.1384G>A (p.Val462Met)
c.1699G>A (p.Val567Met)
c.1654G>A (p.Val552Met)
c.1561G>A (p.Val521Met)
9g.36219941A>CCA464494993CLTA,GNEc.1806T>G (p.Val602=)
c.1536T>G (p.Val512=)
c.1713T>G (p.Val571=)
c.1491T>G (p.Val497=)
c.485+15762A>C (n.485+15762A>C)
c.1383T>G (p.Val461=)
c.1698T>G (p.Val566=)
c.1653T>G (p.Val551=)
c.1560T>G (p.Val520=)
9g.36219941A>GCA464494992CLTA,GNEc.1806T>C (p.Val602=)
c.1536T>C (p.Val512=)
c.1713T>C (p.Val571=)
c.1491T>C (p.Val497=)
c.485+15762A>G (n.485+15762A>G)
c.1383T>C (p.Val461=)
c.1698T>C (p.Val566=)
c.1653T>C (p.Val551=)
c.1560T>C (p.Val520=)
9g.36219941A>TCA464494991CLTA,GNEc.1806T>A (p.Val602=)
c.1536T>A (p.Val512=)
c.1713T>A (p.Val571=)
c.1491T>A (p.Val497=)
c.485+15762A>T (n.485+15762A>T)
c.1383T>A (p.Val461=)
c.1698T>A (p.Val566=)
c.1653T>A (p.Val551=)
c.1560T>A (p.Val520=)
9g.36219942A>CCA373425690CLTA,GNEc.1805T>G (p.Val602Gly)
c.1535T>G (p.Val512Gly)
c.1712T>G (p.Val571Gly)
c.1490T>G (p.Val497Gly)
c.485+15763A>C (n.485+15763A>C)
c.1382T>G (p.Val461Gly)
c.1697T>G (p.Val566Gly)
c.1652T>G (p.Val551Gly)
c.1559T>G (p.Val520Gly)
9g.36219942A>GCA373425691CLTA,GNEc.1805T>C (p.Val602Ala)
c.1535T>C (p.Val512Ala)
c.1712T>C (p.Val571Ala)
c.1490T>C (p.Val497Ala)
c.485+15763A>G (n.485+15763A>G)
c.1382T>C (p.Val461Ala)
c.1697T>C (p.Val566Ala)
c.1652T>C (p.Val551Ala)
c.1559T>C (p.Val520Ala)
9g.36219942A>TCA373425689CLTA,GNEc.1805T>A (p.Val602Asp)
c.1535T>A (p.Val512Asp)
c.1712T>A (p.Val571Asp)
c.1490T>A (p.Val497Asp)
c.485+15763A>T (n.485+15763A>T)
c.1382T>A (p.Val461Asp)
c.1697T>A (p.Val566Asp)
c.1652T>A (p.Val551Asp)
c.1559T>A (p.Val520Asp)
9g.36219943C>ACA373425692CLTA,GNEc.1804G>T (p.Val602Phe)
c.1534G>T (p.Val512Phe)
c.1711G>T (p.Val571Phe)
c.1489G>T (p.Val497Phe)
c.485+15764C>A (n.485+15764C>A)
c.1381G>T (p.Val461Phe)
c.1696G>T (p.Val566Phe)
c.1651G>T (p.Val551Phe)
c.1558G>T (p.Val520Phe)
9g.36219943C=CA1846328718CLTA,GNEc.1804G= (p.Val602=)
c.1534G= (p.Val512=)
c.1711G= (p.Val571=)
c.1489G= (p.Val497=)
c.485+15764C= (n.485+15764C=)
c.1381G= (p.Val461=)
c.1696G= (p.Val566=)
c.1651G= (p.Val551=)
c.1558G= (p.Val520=)
9g.36219943C>GCA373425693CLTA,GNEc.1804G>C (p.Val602Leu)
c.1534G>C (p.Val512Leu)
c.1711G>C (p.Val571Leu)
c.1489G>C (p.Val497Leu)
c.485+15764C>G (n.485+15764C>G)
c.1381G>C (p.Val461Leu)
c.1696G>C (p.Val566Leu)
c.1651G>C (p.Val551Leu)
c.1558G>C (p.Val520Leu)
9g.36219943C>TCA373425694CLTA,GNEc.1804G>A (p.Val602Ile)
c.1534G>A (p.Val512Ile)
c.1711G>A (p.Val571Ile)
c.1489G>A (p.Val497Ile)
c.485+15764C>T (n.485+15764C>T)
c.1381G>A (p.Val461Ile)
c.1696G>A (p.Val566Ile)
c.1651G>A (p.Val551Ile)
c.1558G>A (p.Val520Ile)
 dbSNP gnomAD v3 gnomAD v4
9g.36219944A>CCA464494994CLTA,GNEc.1803T>G (p.Leu601=)
c.1533T>G (p.Leu511=)
c.1710T>G (p.Leu570=)
c.1488T>G (p.Leu496=)
c.485+15765A>C (n.485+15765A>C)
c.1380T>G (p.Leu460=)
c.1695T>G (p.Leu565=)
c.1650T>G (p.Leu550=)
c.1557T>G (p.Leu519=)
9g.36219944A>GCA464494995CLTA,GNEc.1803T>C (p.Leu601=)
c.1533T>C (p.Leu511=)
c.1710T>C (p.Leu570=)
c.1488T>C (p.Leu496=)
c.485+15765A>G (n.485+15765A>G)
c.1380T>C (p.Leu460=)
c.1695T>C (p.Leu565=)
c.1650T>C (p.Leu550=)
c.1557T>C (p.Leu519=)
9g.36219944A>TCA464494996CLTA,GNEc.1803T>A (p.Leu601=)
c.1533T>A (p.Leu511=)
c.1710T>A (p.Leu570=)
c.1488T>A (p.Leu496=)
c.485+15765A>T (n.485+15765A>T)
c.1380T>A (p.Leu460=)
c.1695T>A (p.Leu565=)
c.1650T>A (p.Leu550=)
c.1557T>A (p.Leu519=)
9g.36219945A=CA1846328725CLTA,GNEc.1802T= (p.Leu601=)
c.1532T= (p.Leu511=)
c.1709T= (p.Leu570=)
c.1487T= (p.Leu496=)
c.485+15766A= (n.485+15766A=)
c.1379T= (p.Leu460=)
c.1694T= (p.Leu565=)
c.1649T= (p.Leu550=)
c.1556T= (p.Leu519=)
9g.36219945A>CCA373425695CLTA,GNEc.1802T>G (p.Leu601Arg)
c.1532T>G (p.Leu511Arg)
c.1709T>G (p.Leu570Arg)
c.1487T>G (p.Leu496Arg)
c.485+15766A>C (n.485+15766A>C)
c.1379T>G (p.Leu460Arg)
c.1694T>G (p.Leu565Arg)
c.1649T>G (p.Leu550Arg)
c.1556T>G (p.Leu519Arg)
9g.36219945A>GCA5056434CLTA,GNEc.1802T>C (p.Leu601Pro)
c.1532T>C (p.Leu511Pro)
c.1709T>C (p.Leu570Pro)
c.1487T>C (p.Leu496Pro)
c.485+15766A>G (n.485+15766A>G)
c.1379T>C (p.Leu460Pro)
c.1694T>C (p.Leu565Pro)
c.1649T>C (p.Leu550Pro)
c.1556T>C (p.Leu519Pro)
 ClinVar dbSNP ExAC gnomAD v3 gnomAD v4
9g.36219945A>TCA373425696CLTA,GNEc.1802T>A (p.Leu601His)
c.1532T>A (p.Leu511His)
c.1709T>A (p.Leu570His)
c.1487T>A (p.Leu496His)
c.485+15766A>T (n.485+15766A>T)
c.1379T>A (p.Leu460His)
c.1694T>A (p.Leu565His)
c.1649T>A (p.Leu550His)
c.1556T>A (p.Leu519His)
9g.36219946G>ACA373425697CLTA,GNEc.1801C>T (p.Leu601Phe)
c.1531C>T (p.Leu511Phe)
c.1708C>T (p.Leu570Phe)
c.1486C>T (p.Leu496Phe)
c.485+15767G>A (n.485+15767G>A)
c.1378C>T (p.Leu460Phe)
c.1693C>T (p.Leu565Phe)
c.1648C>T (p.Leu550Phe)
c.1555C>T (p.Leu519Phe)
9g.36219946G>CCA5056435CLTA,GNEc.1801C>G (p.Leu601Val)
c.1531C>G (p.Leu511Val)
c.1708C>G (p.Leu570Val)
c.1486C>G (p.Leu496Val)
c.485+15767G>C (n.485+15767G>C)
c.1378C>G (p.Leu460Val)
c.1693C>G (p.Leu565Val)
c.1648C>G (p.Leu550Val)
c.1555C>G (p.Leu519Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.36219946G=CA1846328733CLTA,GNEc.1801C= (p.Leu601=)
c.1531C= (p.Leu511=)
c.1708C= (p.Leu570=)
c.1486C= (p.Leu496=)
c.485+15767G= (n.485+15767G=)
c.1378C= (p.Leu460=)
c.1693C= (p.Leu565=)
c.1648C= (p.Leu550=)
c.1555C= (p.Leu519=)
9g.36219946G>TCA373425698CLTA,GNEc.1801C>A (p.Leu601Ile)
c.1531C>A (p.Leu511Ile)
c.1708C>A (p.Leu570Ile)
c.1486C>A (p.Leu496Ile)
c.485+15767G>T (n.485+15767G>T)
c.1378C>A (p.Leu460Ile)
c.1693C>A (p.Leu565Ile)
c.1648C>A (p.Leu550Ile)
c.1555C>A (p.Leu519Ile)
9g.36219947G>ACA464494997CLTA,GNEc.1800C>T (p.His600=)
c.1530C>T (p.His510=)
c.1707C>T (p.His569=)
c.1485C>T (p.His495=)
c.485+15768G>A (n.485+15768G>A)
c.1377C>T (p.His459=)
c.1692C>T (p.His564=)
c.1647C>T (p.His549=)
c.1554C>T (p.His518=)
 gnomAD v4
9g.36219947G>CCA373425699CLTA,GNEc.1800C>G (p.His600Gln)
c.1530C>G (p.His510Gln)
c.1707C>G (p.His569Gln)
c.1485C>G (p.His495Gln)
c.485+15768G>C (n.485+15768G>C)
c.1377C>G (p.His459Gln)
c.1692C>G (p.His564Gln)
c.1647C>G (p.His549Gln)
c.1554C>G (p.His518Gln)
9g.36219947G>TCA373425700CLTA,GNEc.1800C>A (p.His600Gln)
c.1530C>A (p.His510Gln)
c.1707C>A (p.His569Gln)
c.1485C>A (p.His495Gln)
c.485+15768G>T (n.485+15768G>T)
c.1377C>A (p.His459Gln)
c.1692C>A (p.His564Gln)
c.1647C>A (p.His549Gln)
c.1554C>A (p.His518Gln)
9g.36219948T>ACA373425702CLTA,GNEc.1799A>T (p.His600Leu)
c.1529A>T (p.His510Leu)
c.1706A>T (p.His569Leu)
c.1484A>T (p.His495Leu)
c.485+15769T>A (n.485+15769T>A)
c.1376A>T (p.His459Leu)
c.1691A>T (p.His564Leu)
c.1646A>T (p.His549Leu)
c.1553A>T (p.His518Leu)
9g.36219948T>CCA373425703CLTA,GNEc.1799A>G (p.His600Arg)
c.1529A>G (p.His510Arg)
c.1706A>G (p.His569Arg)
c.1484A>G (p.His495Arg)
c.485+15769T>C (n.485+15769T>C)
c.1376A>G (p.His459Arg)
c.1691A>G (p.His564Arg)
c.1646A>G (p.His549Arg)
c.1553A>G (p.His518Arg)
9g.36219948T>GCA373425701CLTA,GNEc.1799A>C (p.His600Pro)
c.1529A>C (p.His510Pro)
c.1706A>C (p.His569Pro)
c.1484A>C (p.His495Pro)
c.485+15769T>G (n.485+15769T>G)
c.1376A>C (p.His459Pro)
c.1691A>C (p.His564Pro)
c.1646A>C (p.His549Pro)
c.1553A>C (p.His518Pro)
9g.36219949G>ACA373425704CLTA,GNEc.1798C>T (p.His600Tyr)
c.1528C>T (p.His510Tyr)
c.1705C>T (p.His569Tyr)
c.1483C>T (p.His495Tyr)
c.485+15770G>A (n.485+15770G>A)
c.1375C>T (p.His459Tyr)
c.1690C>T (p.His564Tyr)
c.1645C>T (p.His549Tyr)
c.1552C>T (p.His518Tyr)
 dbSNP gnomAD v2 gnomAD v4
9g.36219949G>CCA373425705CLTA,GNEc.1798C>G (p.His600Asp)
c.1528C>G (p.His510Asp)
c.1705C>G (p.His569Asp)
c.1483C>G (p.His495Asp)
c.485+15770G>C (n.485+15770G>C)
c.1375C>G (p.His459Asp)
c.1690C>G (p.His564Asp)
c.1645C>G (p.His549Asp)
c.1552C>G (p.His518Asp)
9g.36219949G=CA1846328739CLTA,GNEc.1798C= (p.His600=)
c.1528C= (p.His510=)
c.1705C= (p.His569=)
c.1483C= (p.His495=)
c.485+15770G= (n.485+15770G=)
c.1375C= (p.His459=)
c.1690C= (p.His564=)
c.1645C= (p.His549=)
c.1552C= (p.His518=)
9g.36219949G>TCA373425706CLTA,GNEc.1798C>A (p.His600Asn)
c.1528C>A (p.His510Asn)
c.1705C>A (p.His569Asn)
c.1483C>A (p.His495Asn)
c.485+15770G>T (n.485+15770G>T)
c.1375C>A (p.His459Asn)
c.1690C>A (p.His564Asn)
c.1645C>A (p.His549Asn)
c.1552C>A (p.His518Asn)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.36219950G>ACA464494998CLTA,GNEc.1797C>T (p.Gly599=)
c.1527C>T (p.Gly509=)
c.1704C>T (p.Gly568=)
c.1482C>T (p.Gly494=)
c.485+15771G>A (n.485+15771G>A)
c.1374C>T (p.Gly458=)
c.1689C>T (p.Gly563=)
c.1644C>T (p.Gly548=)
c.1551C>T (p.Gly517=)
9g.36219950G>CCA464494999CLTA,GNEc.1797C>G (p.Gly599=)
c.1527C>G (p.Gly509=)
c.1704C>G (p.Gly568=)
c.1482C>G (p.Gly494=)
c.485+15771G>C (n.485+15771G>C)
c.1374C>G (p.Gly458=)
c.1689C>G (p.Gly563=)
c.1644C>G (p.Gly548=)
c.1551C>G (p.Gly517=)
9g.36219950G>TCA464495000CLTA,GNEc.1797C>A (p.Gly599=)
c.1527C>A (p.Gly509=)
c.1704C>A (p.Gly568=)
c.1482C>A (p.Gly494=)
c.485+15771G>T (n.485+15771G>T)
c.1374C>A (p.Gly458=)
c.1689C>A (p.Gly563=)
c.1644C>A (p.Gly548=)
c.1551C>A (p.Gly517=)
9g.36219951C>ACA373425707CLTA,GNEc.1796G>T (p.Gly599Val)
c.1526G>T (p.Gly509Val)
c.1703G>T (p.Gly568Val)
c.1481G>T (p.Gly494Val)
c.485+15772C>A (n.485+15772C>A)
c.1373G>T (p.Gly458Val)
c.1688G>T (p.Gly563Val)
c.1643G>T (p.Gly548Val)
c.1550G>T (p.Gly517Val)
 ClinVar
9g.36219951C=CA1846328747CLTA,GNEc.1796G= (p.Gly599=)
c.1526G= (p.Gly509=)
c.1703G= (p.Gly568=)
c.1481G= (p.Gly494=)
c.485+15772C= (n.485+15772C=)
c.1373G= (p.Gly458=)
c.1688G= (p.Gly563=)
c.1643G= (p.Gly548=)
c.1550G= (p.Gly517=)
9g.36219951C>GCA373425708CLTA,GNEc.1796G>C (p.Gly599Ala)
c.1526G>C (p.Gly509Ala)
c.1703G>C (p.Gly568Ala)
c.1481G>C (p.Gly494Ala)
c.485+15772C>G (n.485+15772C>G)
c.1373G>C (p.Gly458Ala)
c.1688G>C (p.Gly563Ala)
c.1643G>C (p.Gly548Ala)
c.1550G>C (p.Gly517Ala)
 ClinVar dbSNP gnomAD v4
9g.36219951C>TCA373425709CLTA,GNEc.1796G>A (p.Gly599Asp)
c.1526G>A (p.Gly509Asp)
c.1703G>A (p.Gly568Asp)
c.1481G>A (p.Gly494Asp)
c.485+15772C>T (n.485+15772C>T)
c.1373G>A (p.Gly458Asp)
c.1688G>A (p.Gly563Asp)
c.1643G>A (p.Gly548Asp)
c.1550G>A (p.Gly517Asp)
 dbSNP gnomAD v2 gnomAD v4
9g.36219952C>ACA373425710CLTA,GNEc.1795G>T (p.Gly599Cys)
c.1525G>T (p.Gly509Cys)
c.1702G>T (p.Gly568Cys)
c.1480G>T (p.Gly494Cys)
c.485+15773C>A (n.485+15773C>A)
c.1372G>T (p.Gly458Cys)
c.1687G>T (p.Gly563Cys)
c.1642G>T (p.Gly548Cys)
c.1549G>T (p.Gly517Cys)
9g.36219952C>GCA373425712CLTA,GNEc.1795G>C (p.Gly599Arg)
c.1525G>C (p.Gly509Arg)
c.1702G>C (p.Gly568Arg)
c.1480G>C (p.Gly494Arg)
c.485+15773C>G (n.485+15773C>G)
c.1372G>C (p.Gly458Arg)
c.1687G>C (p.Gly563Arg)
c.1642G>C (p.Gly548Arg)
c.1549G>C (p.Gly517Arg)
9g.36219952C>TCA373425711CLTA,GNEc.1795G>A (p.Gly599Ser)
c.1525G>A (p.Gly509Ser)
c.1702G>A (p.Gly568Ser)
c.1480G>A (p.Gly494Ser)
c.485+15773C>T (n.485+15773C>T)
c.1372G>A (p.Gly458Ser)
c.1687G>A (p.Gly563Ser)
c.1642G>A (p.Gly548Ser)
c.1549G>A (p.Gly517Ser)
9g.36219953C>ACA464495001CLTA,GNEc.1794G>T (p.Leu598=)
c.1524G>T (p.Leu508=)
c.1701G>T (p.Leu567=)
c.1479G>T (p.Leu493=)
c.485+15774C>A (n.485+15774C>A)
c.1371G>T (p.Leu457=)
c.1686G>T (p.Leu562=)
c.1641G>T (p.Leu547=)
c.1548G>T (p.Leu516=)
9g.36219953C>GCA464495003CLTA,GNEc.1794G>C (p.Leu598=)
c.1524G>C (p.Leu508=)
c.1701G>C (p.Leu567=)
c.1479G>C (p.Leu493=)
c.485+15774C>G (n.485+15774C>G)
c.1371G>C (p.Leu457=)
c.1686G>C (p.Leu562=)
c.1641G>C (p.Leu547=)
c.1548G>C (p.Leu516=)
9g.36219953C>TCA464495002CLTA,GNEc.1794G>A (p.Leu598=)
c.1524G>A (p.Leu508=)
c.1701G>A (p.Leu567=)
c.1479G>A (p.Leu493=)
c.485+15774C>T (n.485+15774C>T)
c.1371G>A (p.Leu457=)
c.1686G>A (p.Leu562=)
c.1641G>A (p.Leu547=)
c.1548G>A (p.Leu516=)
9g.36219954A>CCA373425713CLTA,GNEc.1793T>G (p.Leu598Arg)
c.1523T>G (p.Leu508Arg)
c.1700T>G (p.Leu567Arg)
c.1478T>G (p.Leu493Arg)
c.485+15775A>C (n.485+15775A>C)
c.1370T>G (p.Leu457Arg)
c.1685T>G (p.Leu562Arg)
c.1640T>G (p.Leu547Arg)
c.1547T>G (p.Leu516Arg)
9g.36219954A>GCA373425714CLTA,GNEc.1793T>C (p.Leu598Pro)
c.1523T>C (p.Leu508Pro)
c.1700T>C (p.Leu567Pro)
c.1478T>C (p.Leu493Pro)
c.485+15775A>G (n.485+15775A>G)
c.1370T>C (p.Leu457Pro)
c.1685T>C (p.Leu562Pro)
c.1640T>C (p.Leu547Pro)
c.1547T>C (p.Leu516Pro)
9g.36219954A>TCA373425715CLTA,GNEc.1793T>A (p.Leu598Gln)
c.1523T>A (p.Leu508Gln)
c.1700T>A (p.Leu567Gln)
c.1478T>A (p.Leu493Gln)
c.485+15775A>T (n.485+15775A>T)
c.1370T>A (p.Leu457Gln)
c.1685T>A (p.Leu562Gln)
c.1640T>A (p.Leu547Gln)
c.1547T>A (p.Leu516Gln)
9g.36219955G>ACA464495004CLTA,GNEc.1792C>T (p.Leu598=)
c.1522C>T (p.Leu508=)
c.1699C>T (p.Leu567=)
c.1477C>T (p.Leu493=)
c.485+15776G>A (n.485+15776G>A)
c.1369C>T (p.Leu457=)
c.1684C>T (p.Leu562=)
c.1639C>T (p.Leu547=)
c.1546C>T (p.Leu516=)
9g.36219955G>CCA373425716CLTA,GNEc.1792C>G (p.Leu598Val)
c.1522C>G (p.Leu508Val)
c.1699C>G (p.Leu567Val)
c.1477C>G (p.Leu493Val)
c.485+15776G>C (n.485+15776G>C)
c.1369C>G (p.Leu457Val)
c.1684C>G (p.Leu562Val)
c.1639C>G (p.Leu547Val)
c.1546C>G (p.Leu516Val)
9g.36219955G>TCA373425717CLTA,GNEc.1792C>A (p.Leu598Met)
c.1522C>A (p.Leu508Met)
c.1699C>A (p.Leu567Met)
c.1477C>A (p.Leu493Met)
c.485+15776G>T (n.485+15776G>T)
c.1369C>A (p.Leu457Met)
c.1684C>A (p.Leu562Met)
c.1639C>A (p.Leu547Met)
c.1546C>A (p.Leu516Met)
9g.36219956T>ACA373425719CLTA,GNEc.1791A>T (p.Glu597Asp)
c.1521A>T (p.Glu507Asp)
c.1698A>T (p.Glu566Asp)
c.1476A>T (p.Glu492Asp)
c.485+15777T>A (n.485+15777T>A)
c.1368A>T (p.Glu456Asp)
c.1683A>T (p.Glu561Asp)
c.1638A>T (p.Glu546Asp)
c.1545A>T (p.Glu515Asp)
9g.36219956T>CCA464495005CLTA,GNEc.1791A>G (p.Glu597=)
c.1521A>G (p.Glu507=)
c.1698A>G (p.Glu566=)
c.1476A>G (p.Glu492=)
c.485+15777T>C (n.485+15777T>C)
c.1368A>G (p.Glu456=)
c.1683A>G (p.Glu561=)
c.1638A>G (p.Glu546=)
c.1545A>G (p.Glu515=)
9g.36219956T>GCA373425718CLTA,GNEc.1791A>C (p.Glu597Asp)
c.1521A>C (p.Glu507Asp)
c.1698A>C (p.Glu566Asp)
c.1476A>C (p.Glu492Asp)
c.485+15777T>G (n.485+15777T>G)
c.1368A>C (p.Glu456Asp)
c.1683A>C (p.Glu561Asp)
c.1638A>C (p.Glu546Asp)
c.1545A>C (p.Glu515Asp)
9g.36219957T>ACA373425720CLTA,GNEc.1790A>T (p.Glu597Val)
c.1520A>T (p.Glu507Val)
c.1697A>T (p.Glu566Val)
c.1475A>T (p.Glu492Val)
c.485+15778T>A (n.485+15778T>A)
c.1367A>T (p.Glu456Val)
c.1682A>T (p.Glu561Val)
c.1637A>T (p.Glu546Val)
c.1544A>T (p.Glu515Val)
9g.36219957T>CCA373425721CLTA,GNEc.1790A>G (p.Glu597Gly)
c.1520A>G (p.Glu507Gly)
c.1697A>G (p.Glu566Gly)
c.1475A>G (p.Glu492Gly)
c.485+15778T>C (n.485+15778T>C)
c.1367A>G (p.Glu456Gly)
c.1682A>G (p.Glu561Gly)
c.1637A>G (p.Glu546Gly)
c.1544A>G (p.Glu515Gly)
9g.36219957T>GCA373425722CLTA,GNEc.1790A>C (p.Glu597Ala)
c.1520A>C (p.Glu507Ala)
c.1697A>C (p.Glu566Ala)
c.1475A>C (p.Glu492Ala)
c.485+15778T>G (n.485+15778T>G)
c.1367A>C (p.Glu456Ala)
c.1682A>C (p.Glu561Ala)
c.1637A>C (p.Glu546Ala)
c.1544A>C (p.Glu515Ala)
9g.36219958C>ACA373425723CLTA,GNEc.1789G>T (p.Glu597Ter)
c.1519G>T (p.Glu507Ter)
c.1696G>T (p.Glu566Ter)
c.1474G>T (p.Glu492Ter)
c.485+15779C>A (n.485+15779C>A)
c.1366G>T (p.Glu456Ter)
c.1681G>T (p.Glu561Ter)
c.1636G>T (p.Glu546Ter)
c.1543G>T (p.Glu515Ter)
9g.36219958C=CA1846328752CLTA,GNEc.1789G= (p.Glu597=)
c.1519G= (p.Glu507=)
c.1696G= (p.Glu566=)
c.1474G= (p.Glu492=)
c.485+15779C= (n.485+15779C=)
c.1366G= (p.Glu456=)
c.1681G= (p.Glu561=)
c.1636G= (p.Glu546=)
c.1543G= (p.Glu515=)
9g.36219958C>GCA373425724CLTA,GNEc.1789G>C (p.Glu597Gln)
c.1519G>C (p.Glu507Gln)
c.1696G>C (p.Glu566Gln)
c.1474G>C (p.Glu492Gln)
c.485+15779C>G (n.485+15779C>G)
c.1366G>C (p.Glu456Gln)
c.1681G>C (p.Glu561Gln)
c.1636G>C (p.Glu546Gln)
c.1543G>C (p.Glu515Gln)
 dbSNP gnomAD v2
9g.36219958C>TCA373425725CLTA,GNEc.1789G>A (p.Glu597Lys)
c.1519G>A (p.Glu507Lys)
c.1696G>A (p.Glu566Lys)
c.1474G>A (p.Glu492Lys)
c.485+15779C>T (n.485+15779C>T)
c.1366G>A (p.Glu456Lys)
c.1681G>A (p.Glu561Lys)
c.1636G>A (p.Glu546Lys)
c.1543G>A (p.Glu515Lys)
9g.36219959T>ACA464495006CLTA,GNEc.1788A>T (p.Ala596=)
c.1518A>T (p.Ala506=)
c.1695A>T (p.Ala565=)
c.1473A>T (p.Ala491=)
c.485+15780T>A (n.485+15780T>A)
c.1365A>T (p.Ala455=)
c.1680A>T (p.Ala560=)
c.1635A>T (p.Ala545=)
c.1542A>T (p.Ala514=)
9g.36219959T>CCA464495007CLTA,GNEc.1788A>G (p.Ala596=)
c.1518A>G (p.Ala506=)
c.1695A>G (p.Ala565=)
c.1473A>G (p.Ala491=)
c.485+15780T>C (n.485+15780T>C)
c.1365A>G (p.Ala455=)
c.1680A>G (p.Ala560=)
c.1635A>G (p.Ala545=)
c.1542A>G (p.Ala514=)
9g.36219959T>GCA464495008CLTA,GNEc.1788A>C (p.Ala596=)
c.1518A>C (p.Ala506=)
c.1695A>C (p.Ala565=)
c.1473A>C (p.Ala491=)
c.485+15780T>G (n.485+15780T>G)
c.1365A>C (p.Ala455=)
c.1680A>C (p.Ala560=)
c.1635A>C (p.Ala545=)
c.1542A>C (p.Ala514=)
9g.36219960G>ACA373425728CLTA,GNEc.1787C>T (p.Ala596Val)
c.1517C>T (p.Ala506Val)
c.1694C>T (p.Ala565Val)
c.1472C>T (p.Ala491Val)
c.485+15781G>A (n.485+15781G>A)
c.1364C>T (p.Ala455Val)
c.1679C>T (p.Ala560Val)
c.1634C>T (p.Ala545Val)
c.1541C>T (p.Ala514Val)
9g.36219960G>CCA373425727CLTA,GNEc.1787C>G (p.Ala596Gly)
c.1517C>G (p.Ala506Gly)
c.1694C>G (p.Ala565Gly)
c.1472C>G (p.Ala491Gly)
c.485+15781G>C (n.485+15781G>C)
c.1364C>G (p.Ala455Gly)
c.1679C>G (p.Ala560Gly)
c.1634C>G (p.Ala545Gly)
c.1541C>G (p.Ala514Gly)
9g.36219960G>TCA373425726CLTA,GNEc.1787C>A (p.Ala596Glu)
c.1517C>A (p.Ala506Glu)
c.1694C>A (p.Ala565Glu)
c.1472C>A (p.Ala491Glu)
c.485+15781G>T (n.485+15781G>T)
c.1364C>A (p.Ala455Glu)
c.1679C>A (p.Ala560Glu)
c.1634C>A (p.Ala545Glu)
c.1541C>A (p.Ala514Glu)
9g.36219961C>ACA373425729CLTA,GNEc.1786G>T (p.Ala596Ser)
c.1516G>T (p.Ala506Ser)
c.1693G>T (p.Ala565Ser)
c.1471G>T (p.Ala491Ser)
c.485+15782C>A (n.485+15782C>A)
c.1363G>T (p.Ala455Ser)
c.1678G>T (p.Ala560Ser)
c.1633G>T (p.Ala545Ser)
c.1540G>T (p.Ala514Ser)
9g.36219961C>GCA373425730CLTA,GNEc.1786G>C (p.Ala596Pro)
c.1516G>C (p.Ala506Pro)
c.1693G>C (p.Ala565Pro)
c.1471G>C (p.Ala491Pro)
c.485+15782C>G (n.485+15782C>G)
c.1363G>C (p.Ala455Pro)
c.1678G>C (p.Ala560Pro)
c.1633G>C (p.Ala545Pro)
c.1540G>C (p.Ala514Pro)
9g.36219961C>TCA373425731CLTA,GNEc.1786G>A (p.Ala596Thr)
c.1516G>A (p.Ala506Thr)
c.1693G>A (p.Ala565Thr)
c.1471G>A (p.Ala491Thr)
c.485+15782C>T (n.485+15782C>T)
c.1363G>A (p.Ala455Thr)
c.1678G>A (p.Ala560Thr)
c.1633G>A (p.Ala545Thr)
c.1540G>A (p.Ala514Thr)
 gnomAD v4
9g.36219962A=CA1846328754CLTA,GNEc.1785T= (p.Ala595=)
c.1515T= (p.Ala505=)
c.1692T= (p.Ala564=)
c.1470T= (p.Ala490=)
c.485+15783A= (n.485+15783A=)
c.1362T= (p.Ala454=)
c.1677T= (p.Ala559=)
c.1632T= (p.Ala544=)
c.1539T= (p.Ala513=)
9g.36219962A>CCA464495010CLTA,GNEc.1785T>G (p.Ala595=)
c.1515T>G (p.Ala505=)
c.1692T>G (p.Ala564=)
c.1470T>G (p.Ala490=)
c.485+15783A>C (n.485+15783A>C)
c.1362T>G (p.Ala454=)
c.1677T>G (p.Ala559=)
c.1632T>G (p.Ala544=)
c.1539T>G (p.Ala513=)
 ClinVar dbSNP gnomAD v4
9g.36219962A>GCA464495011CLTA,GNEc.1785T>C (p.Ala595=)
c.1515T>C (p.Ala505=)
c.1692T>C (p.Ala564=)
c.1470T>C (p.Ala490=)
c.485+15783A>G (n.485+15783A>G)
c.1362T>C (p.Ala454=)
c.1677T>C (p.Ala559=)
c.1632T>C (p.Ala544=)
c.1539T>C (p.Ala513=)
9g.36219962A>TCA464495009CLTA,GNEc.1785T>A (p.Ala595=)
c.1515T>A (p.Ala505=)
c.1692T>A (p.Ala564=)
c.1470T>A (p.Ala490=)
c.485+15783A>T (n.485+15783A>T)
c.1362T>A (p.Ala454=)
c.1677T>A (p.Ala559=)
c.1632T>A (p.Ala544=)
c.1539T>A (p.Ala513=)
9g.36219963G>ACA373425732CLTA,GNEc.1784C>T (p.Ala595Val)
c.1514C>T (p.Ala505Val)
c.1691C>T (p.Ala564Val)
c.1469C>T (p.Ala490Val)
c.485+15784G>A (n.485+15784G>A)
c.1361C>T (p.Ala454Val)
c.1676C>T (p.Ala559Val)
c.1631C>T (p.Ala544Val)
c.1538C>T (p.Ala513Val)
9g.36219963G>CCA373425733CLTA,GNEc.1784C>G (p.Ala595Gly)
c.1514C>G (p.Ala505Gly)
c.1691C>G (p.Ala564Gly)
c.1469C>G (p.Ala490Gly)
c.485+15784G>C (n.485+15784G>C)
c.1361C>G (p.Ala454Gly)
c.1676C>G (p.Ala559Gly)
c.1631C>G (p.Ala544Gly)
c.1538C>G (p.Ala513Gly)
9g.36219963G>TCA373425734CLTA,GNEc.1784C>A (p.Ala595Asp)
c.1514C>A (p.Ala505Asp)
c.1691C>A (p.Ala564Asp)
c.1469C>A (p.Ala490Asp)
c.485+15784G>T (n.485+15784G>T)
c.1361C>A (p.Ala454Asp)
c.1676C>A (p.Ala559Asp)
c.1631C>A (p.Ala544Asp)
c.1538C>A (p.Ala513Asp)
 gnomAD v4
9g.36219964delCA2499219907CLTA,GNEc.1783del (p.Ala595LeufsTer?)
c.1513del (p.Ala505LeufsTer?)
c.1690del (p.Ala564LeufsTer?)
c.1468del (p.Ala490LeufsTer?)
c.485+15785del (n.485+15785del)
c.1360del (p.Ala454LeufsTer?)
c.1675del (p.Ala559LeufsTer?)
c.1630del (p.Ala544LeufsTer?)
c.1537del (p.Ala513LeufsTer?)
 ClinVar dbSNP
9g.36219964C>ACA373425735CLTA,GNEc.1783G>T (p.Ala595Ser)
c.1513G>T (p.Ala505Ser)
c.1690G>T (p.Ala564Ser)
c.1468G>T (p.Ala490Ser)
c.485+15785C>A (n.485+15785C>A)
c.1360G>T (p.Ala454Ser)
c.1675G>T (p.Ala559Ser)
c.1630G>T (p.Ala544Ser)
c.1537G>T (p.Ala513Ser)
9g.36219964C>GCA373425737CLTA,GNEc.1783G>C (p.Ala595Pro)
c.1513G>C (p.Ala505Pro)
c.1690G>C (p.Ala564Pro)
c.1468G>C (p.Ala490Pro)
c.485+15785C>G (n.485+15785C>G)
c.1360G>C (p.Ala454Pro)
c.1675G>C (p.Ala559Pro)
c.1630G>C (p.Ala544Pro)
c.1537G>C (p.Ala513Pro)
9g.36219964C>TCA373425736CLTA,GNEc.1783G>A (p.Ala595Thr)
c.1513G>A (p.Ala505Thr)
c.1690G>A (p.Ala564Thr)
c.1468G>A (p.Ala490Thr)
c.485+15785C>T (n.485+15785C>T)
c.1360G>A (p.Ala454Thr)
c.1675G>A (p.Ala559Thr)
c.1630G>A (p.Ala544Thr)
c.1537G>A (p.Ala513Thr)
9g.36219965A=CA1846328757CLTA,GNEc.1782T= (p.Cys594=)
c.1512T= (p.Cys504=)
c.1689T= (p.Cys563=)
c.1467T= (p.Cys489=)
c.485+15786A= (n.485+15786A=)
c.1359T= (p.Cys453=)
c.1674T= (p.Cys558=)
c.1629T= (p.Cys543=)
c.1536T= (p.Cys512=)
9g.36219965A>CCA373425738CLTA,GNEc.1782T>G (p.Cys594Trp)
c.1512T>G (p.Cys504Trp)
c.1689T>G (p.Cys563Trp)
c.1467T>G (p.Cys489Trp)
c.485+15786A>C (n.485+15786A>C)
c.1359T>G (p.Cys453Trp)
c.1674T>G (p.Cys558Trp)
c.1629T>G (p.Cys543Trp)
c.1536T>G (p.Cys512Trp)
9g.36219965A>GCA5056436CLTA,GNEc.1782T>C (p.Cys594=)
c.1512T>C (p.Cys504=)
c.1689T>C (p.Cys563=)
c.1467T>C (p.Cys489=)
c.485+15786A>G (n.485+15786A>G)
c.1359T>C (p.Cys453=)
c.1674T>C (p.Cys558=)
c.1629T>C (p.Cys543=)
c.1536T>C (p.Cys512=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.36219965A>TCA373425739CLTA,GNEc.1782T>A (p.Cys594Ter)
c.1512T>A (p.Cys504Ter)
c.1689T>A (p.Cys563Ter)
c.1467T>A (p.Cys489Ter)
c.485+15786A>T (n.485+15786A>T)
c.1359T>A (p.Cys453Ter)
c.1674T>A (p.Cys558Ter)
c.1629T>A (p.Cys543Ter)
c.1536T>A (p.Cys512Ter)
9g.36219966C>ACA373425741CLTA,GNEc.1781G>T (p.Cys594Phe)
c.1511G>T (p.Cys504Phe)
c.1688G>T (p.Cys563Phe)
c.1466G>T (p.Cys489Phe)
c.485+15787C>A (n.485+15787C>A)
c.1358G>T (p.Cys453Phe)
c.1673G>T (p.Cys558Phe)
c.1628G>T (p.Cys543Phe)
c.1535G>T (p.Cys512Phe)
9g.36219966C>GCA373425743CLTA,GNEc.1781G>C (p.Cys594Ser)
c.1511G>C (p.Cys504Ser)
c.1688G>C (p.Cys563Ser)
c.1466G>C (p.Cys489Ser)
c.485+15787C>G (n.485+15787C>G)
c.1358G>C (p.Cys453Ser)
c.1673G>C (p.Cys558Ser)
c.1628G>C (p.Cys543Ser)
c.1535G>C (p.Cys512Ser)
9g.36219966C>TCA373425745CLTA,GNEc.1781G>A (p.Cys594Tyr)
c.1511G>A (p.Cys504Tyr)
c.1688G>A (p.Cys563Tyr)
c.1466G>A (p.Cys489Tyr)
c.485+15787C>T (n.485+15787C>T)
c.1358G>A (p.Cys453Tyr)
c.1673G>A (p.Cys558Tyr)
c.1628G>A (p.Cys543Tyr)
c.1535G>A (p.Cys512Tyr)
9g.36219967A>CCA373425747CLTA,GNEc.1780T>G (p.Cys594Gly)
c.1510T>G (p.Cys504Gly)
c.1687T>G (p.Cys563Gly)
c.1465T>G (p.Cys489Gly)
c.485+15788A>C (n.485+15788A>C)
c.1357T>G (p.Cys453Gly)
c.1672T>G (p.Cys558Gly)
c.1627T>G (p.Cys543Gly)
c.1534T>G (p.Cys512Gly)
9g.36219967A>GCA373425748CLTA,GNEc.1780T>C (p.Cys594Arg)
c.1510T>C (p.Cys504Arg)
c.1687T>C (p.Cys563Arg)
c.1465T>C (p.Cys489Arg)
c.485+15788A>G (n.485+15788A>G)
c.1357T>C (p.Cys453Arg)
c.1672T>C (p.Cys558Arg)
c.1627T>C (p.Cys543Arg)
c.1534T>C (p.Cys512Arg)
9g.36219967A>TCA373425750CLTA,GNEc.1780T>A (p.Cys594Ser)
c.1510T>A (p.Cys504Ser)
c.1687T>A (p.Cys563Ser)
c.1465T>A (p.Cys489Ser)
c.485+15788A>T (n.485+15788A>T)
c.1357T>A (p.Cys453Ser)
c.1672T>A (p.Cys558Ser)
c.1627T>A (p.Cys543Ser)
c.1534T>A (p.Cys512Ser)
9g.36219967_36219968delinsAGCA1846328780CLTA,GNEc.1779_1780delinsCT (p.Phe593=)
c.1509_1510delinsCT (p.Phe503=)
c.1686_1687delinsCT (p.Phe562=)
c.1464_1465delinsCT (p.Phe488=)
c.485+15788_485+15789delinsAG (n.485+15788_485+15789delinsAG)
c.1356_1357delinsCT (p.Phe452=)
c.1671_1672delinsCT (p.Phe557=)
c.1626_1627delinsCT (p.Phe542=)
c.1533_1534delinsCT (p.Phe511=)
9g.36219968delCA10606772CLTA,GNEc.1779del (p.Cys594ValfsTer?)
c.1509del (p.Cys504ValfsTer?)
c.1686del (p.Cys563ValfsTer?)
c.1464del (p.Cys489ValfsTer?)
c.485+15789del (n.485+15789del)
c.1356del (p.Cys453ValfsTer?)
c.1671del (p.Cys558ValfsTer?)
c.1626del (p.Cys543ValfsTer?)
c.1533del (p.Cys512ValfsTer?)
 ClinVar dbSNP
9g.36219968G>ACA464495012CLTA,GNEc.1779C>T (p.Phe593=)
c.1509C>T (p.Phe503=)
c.1686C>T (p.Phe562=)
c.1464C>T (p.Phe488=)
c.485+15789G>A (n.485+15789G>A)
c.1356C>T (p.Phe452=)
c.1671C>T (p.Phe557=)
c.1626C>T (p.Phe542=)
c.1533C>T (p.Phe511=)
9g.36219968G>CCA373425752CLTA,GNEc.1779C>G (p.Phe593Leu)
c.1509C>G (p.Phe503Leu)
c.1686C>G (p.Phe562Leu)
c.1464C>G (p.Phe488Leu)
c.485+15789G>C (n.485+15789G>C)
c.1356C>G (p.Phe452Leu)
c.1671C>G (p.Phe557Leu)
c.1626C>G (p.Phe542Leu)
c.1533C>G (p.Phe511Leu)
 gnomAD v4
9g.36219968G>TCA373425754CLTA,GNEc.1779C>A (p.Phe593Leu)
c.1509C>A (p.Phe503Leu)
c.1686C>A (p.Phe562Leu)
c.1464C>A (p.Phe488Leu)
c.485+15789G>T (n.485+15789G>T)
c.1356C>A (p.Phe452Leu)
c.1671C>A (p.Phe557Leu)
c.1626C>A (p.Phe542Leu)
c.1533C>A (p.Phe511Leu)
9g.36219969A>CCA373425755CLTA,GNEc.1778T>G (p.Phe593Cys)
c.1508T>G (p.Phe503Cys)
c.1685T>G (p.Phe562Cys)
c.1463T>G (p.Phe488Cys)
c.485+15790A>C (n.485+15790A>C)
c.1355T>G (p.Phe452Cys)
c.1670T>G (p.Phe557Cys)
c.1625T>G (p.Phe542Cys)
c.1532T>G (p.Phe511Cys)
9g.36219969A>GCA373425759CLTA,GNEc.1778T>C (p.Phe593Ser)
c.1508T>C (p.Phe503Ser)
c.1685T>C (p.Phe562Ser)
c.1463T>C (p.Phe488Ser)
c.485+15790A>G (n.485+15790A>G)
c.1355T>C (p.Phe452Ser)
c.1670T>C (p.Phe557Ser)
c.1625T>C (p.Phe542Ser)
c.1532T>C (p.Phe511Ser)
9g.36219969A>TCA373425757CLTA,GNEc.1778T>A (p.Phe593Tyr)
c.1508T>A (p.Phe503Tyr)
c.1685T>A (p.Phe562Tyr)
c.1463T>A (p.Phe488Tyr)
c.485+15790A>T (n.485+15790A>T)
c.1355T>A (p.Phe452Tyr)
c.1670T>A (p.Phe557Tyr)
c.1625T>A (p.Phe542Tyr)
c.1532T>A (p.Phe511Tyr)
9g.36219970A>CCA373425761CLTA,GNEc.1777T>G (p.Phe593Val)
c.1507T>G (p.Phe503Val)
c.1684T>G (p.Phe562Val)
c.1462T>G (p.Phe488Val)
c.485+15791A>C (n.485+15791A>C)
c.1354T>G (p.Phe452Val)
c.1669T>G (p.Phe557Val)
c.1624T>G (p.Phe542Val)
c.1531T>G (p.Phe511Val)
 ClinVar
9g.36219970A>GCA373425762CLTA,GNEc.1777T>C (p.Phe593Leu)
c.1507T>C (p.Phe503Leu)
c.1684T>C (p.Phe562Leu)
c.1462T>C (p.Phe488Leu)
c.485+15791A>G (n.485+15791A>G)
c.1354T>C (p.Phe452Leu)
c.1669T>C (p.Phe557Leu)
c.1624T>C (p.Phe542Leu)
c.1531T>C (p.Phe511Leu)
9g.36219970A>TCA373425763CLTA,GNEc.1777T>A (p.Phe593Ile)
c.1507T>A (p.Phe503Ile)
c.1684T>A (p.Phe562Ile)
c.1462T>A (p.Phe488Ile)
c.485+15791A>T (n.485+15791A>T)
c.1354T>A (p.Phe452Ile)
c.1669T>A (p.Phe557Ile)
c.1624T>A (p.Phe542Ile)
c.1531T>A (p.Phe511Ile)
9g.36219971G>ACA464495013CLTA,GNEc.1776C>T (p.Ser592=)
c.1506C>T (p.Ser502=)
c.1683C>T (p.Ser561=)
c.1461C>T (p.Ser487=)
c.485+15792G>A (n.485+15792G>A)
c.1353C>T (p.Ser451=)
c.1668C>T (p.Ser556=)
c.1623C>T (p.Ser541=)
c.1530C>T (p.Ser510=)
 gnomAD v4
9g.36219971G>CCA464495014CLTA,GNEc.1776C>G (p.Ser592=)
c.1506C>G (p.Ser502=)
c.1683C>G (p.Ser561=)
c.1461C>G (p.Ser487=)
c.485+15792G>C (n.485+15792G>C)
c.1353C>G (p.Ser451=)
c.1668C>G (p.Ser556=)
c.1623C>G (p.Ser541=)
c.1530C>G (p.Ser510=)
9g.36219971G>TCA464495015CLTA,GNEc.1776C>A (p.Ser592=)
c.1506C>A (p.Ser502=)
c.1683C>A (p.Ser561=)
c.1461C>A (p.Ser487=)
c.485+15792G>T (n.485+15792G>T)
c.1353C>A (p.Ser451=)
c.1668C>A (p.Ser556=)
c.1623C>A (p.Ser541=)
c.1530C>A (p.Ser510=)
9g.36219972G>ACA373425765CLTA,GNEc.1775C>T (p.Ser592Phe)
c.1505C>T (p.Ser502Phe)
c.1682C>T (p.Ser561Phe)
c.1460C>T (p.Ser487Phe)
c.485+15793G>A (n.485+15793G>A)
c.1352C>T (p.Ser451Phe)
c.1667C>T (p.Ser556Phe)
c.1622C>T (p.Ser541Phe)
c.1529C>T (p.Ser510Phe)
 gnomAD v4
9g.36219972G>CCA373425766CLTA,GNEc.1775C>G (p.Ser592Cys)
c.1505C>G (p.Ser502Cys)
c.1682C>G (p.Ser561Cys)
c.1460C>G (p.Ser487Cys)
c.485+15793G>C (n.485+15793G>C)
c.1352C>G (p.Ser451Cys)
c.1667C>G (p.Ser556Cys)
c.1622C>G (p.Ser541Cys)
c.1529C>G (p.Ser510Cys)
9g.36219972G>TCA373425768CLTA,GNEc.1775C>A (p.Ser592Tyr)
c.1505C>A (p.Ser502Tyr)
c.1682C>A (p.Ser561Tyr)
c.1460C>A (p.Ser487Tyr)
c.485+15793G>T (n.485+15793G>T)
c.1352C>A (p.Ser451Tyr)
c.1667C>A (p.Ser556Tyr)
c.1622C>A (p.Ser541Tyr)
c.1529C>A (p.Ser510Tyr)
9g.36219973A=CA1846328792CLTA,GNEc.1774T= (p.Ser592=)
c.1504T= (p.Ser502=)
c.1681T= (p.Ser561=)
c.1459T= (p.Ser487=)
c.485+15794A= (n.485+15794A=)
c.1351T= (p.Ser451=)
c.1666T= (p.Ser556=)
c.1621T= (p.Ser541=)
c.1528T= (p.Ser510=)
9g.36219973A>CCA5056437CLTA,GNEc.1774T>G (p.Ser592Ala)
c.1504T>G (p.Ser502Ala)
c.1681T>G (p.Ser561Ala)
c.1459T>G (p.Ser487Ala)
c.485+15794A>C (n.485+15794A>C)
c.1351T>G (p.Ser451Ala)
c.1666T>G (p.Ser556Ala)
c.1621T>G (p.Ser541Ala)
c.1528T>G (p.Ser510Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.36219973A>GCA373425770CLTA,GNEc.1774T>C (p.Ser592Pro)
c.1504T>C (p.Ser502Pro)
c.1681T>C (p.Ser561Pro)
c.1459T>C (p.Ser487Pro)
c.485+15794A>G (n.485+15794A>G)
c.1351T>C (p.Ser451Pro)
c.1666T>C (p.Ser556Pro)
c.1621T>C (p.Ser541Pro)
c.1528T>C (p.Ser510Pro)
9g.36219973A>TCA373425771CLTA,GNEc.1774T>A (p.Ser592Thr)
c.1504T>A (p.Ser502Thr)
c.1681T>A (p.Ser561Thr)
c.1459T>A (p.Ser487Thr)
c.485+15794A>T (n.485+15794A>T)
c.1351T>A (p.Ser451Thr)
c.1666T>A (p.Ser556Thr)
c.1621T>A (p.Ser541Thr)
c.1528T>A (p.Ser510Thr)
9g.36219974G>ACA464495016CLTA,GNEc.1773C>T (p.Ser591=)
c.1503C>T (p.Ser501=)
c.1680C>T (p.Ser560=)
c.1458C>T (p.Ser486=)
c.485+15795G>A (n.485+15795G>A)
c.1350C>T (p.Ser450=)
c.1665C>T (p.Ser555=)
c.1620C>T (p.Ser540=)
c.1527C>T (p.Ser509=)
9g.36219974G>CCA373425773CLTA,GNEc.1773C>G (p.Ser591Arg)
c.1503C>G (p.Ser501Arg)
c.1680C>G (p.Ser560Arg)
c.1458C>G (p.Ser486Arg)
c.485+15795G>C (n.485+15795G>C)
c.1350C>G (p.Ser450Arg)
c.1665C>G (p.Ser555Arg)
c.1620C>G (p.Ser540Arg)
c.1527C>G (p.Ser509Arg)
9g.36219974G>TCA373425775CLTA,GNEc.1773C>A (p.Ser591Arg)
c.1503C>A (p.Ser501Arg)
c.1680C>A (p.Ser560Arg)
c.1458C>A (p.Ser486Arg)
c.485+15795G>T (n.485+15795G>T)
c.1350C>A (p.Ser450Arg)
c.1665C>A (p.Ser555Arg)
c.1620C>A (p.Ser540Arg)
c.1527C>A (p.Ser509Arg)
9g.36219975C>ACA373425780CLTA,GNEc.1772G>T (p.Ser591Ile)
c.1502G>T (p.Ser501Ile)
c.1679G>T (p.Ser560Ile)
c.1457G>T (p.Ser486Ile)
c.485+15796C>A (n.485+15796C>A)
c.1349G>T (p.Ser450Ile)
c.1664G>T (p.Ser555Ile)
c.1619G>T (p.Ser540Ile)
c.1526G>T (p.Ser509Ile)
9g.36219975C>GCA373425778CLTA,GNEc.1772G>C (p.Ser591Thr)
c.1502G>C (p.Ser501Thr)
c.1679G>C (p.Ser560Thr)
c.1457G>C (p.Ser486Thr)
c.485+15796C>G (n.485+15796C>G)
c.1349G>C (p.Ser450Thr)
c.1664G>C (p.Ser555Thr)
c.1619G>C (p.Ser540Thr)
c.1526G>C (p.Ser509Thr)
 gnomAD v4
9g.36219975C>TCA373425777CLTA,GNEc.1772G>A (p.Ser591Asn)
c.1502G>A (p.Ser501Asn)
c.1679G>A (p.Ser560Asn)
c.1457G>A (p.Ser486Asn)
c.485+15796C>T (n.485+15796C>T)
c.1349G>A (p.Ser450Asn)
c.1664G>A (p.Ser555Asn)
c.1619G>A (p.Ser540Asn)
c.1526G>A (p.Ser509Asn)
9g.36219976T>ACA373425782CLTA,GNEc.1771A>T (p.Ser591Cys)
c.1501A>T (p.Ser501Cys)
c.1678A>T (p.Ser560Cys)
c.1456A>T (p.Ser486Cys)
c.485+15797T>A (n.485+15797T>A)
c.1348A>T (p.Ser450Cys)
c.1663A>T (p.Ser555Cys)
c.1618A>T (p.Ser540Cys)
c.1525A>T (p.Ser509Cys)
9g.36219976T>CCA373425783CLTA,GNEc.1771A>G (p.Ser591Gly)
c.1501A>G (p.Ser501Gly)
c.1678A>G (p.Ser560Gly)
c.1456A>G (p.Ser486Gly)
c.485+15797T>C (n.485+15797T>C)
c.1348A>G (p.Ser450Gly)
c.1663A>G (p.Ser555Gly)
c.1618A>G (p.Ser540Gly)
c.1525A>G (p.Ser509Gly)
9g.36219976T>GCA373425785CLTA,GNEc.1771A>C (p.Ser591Arg)
c.1501A>C (p.Ser501Arg)
c.1678A>C (p.Ser560Arg)
c.1456A>C (p.Ser486Arg)
c.485+15797T>G (n.485+15797T>G)
c.1348A>C (p.Ser450Arg)
c.1663A>C (p.Ser555Arg)
c.1618A>C (p.Ser540Arg)
c.1525A>C (p.Ser509Arg)
 ClinVar
9g.36219977T>ACA464495017CLTA,GNEc.1770A>T (p.Gly590=)
c.1500A>T (p.Gly500=)
c.1677A>T (p.Gly559=)
c.1455A>T (p.Gly485=)
c.485+15798T>A (n.485+15798T>A)
c.1347A>T (p.Gly449=)
c.1662A>T (p.Gly554=)
c.1617A>T (p.Gly539=)
c.1524A>T (p.Gly508=)
9g.36219977T>CCA464495018CLTA,GNEc.1770A>G (p.Gly590=)
c.1500A>G (p.Gly500=)
c.1677A>G (p.Gly559=)
c.1455A>G (p.Gly485=)
c.485+15798T>C (n.485+15798T>C)
c.1347A>G (p.Gly449=)
c.1662A>G (p.Gly554=)
c.1617A>G (p.Gly539=)
c.1524A>G (p.Gly508=)
 dbSNP
9g.36219977T>GCA464495019CLTA,GNEc.1770A>C (p.Gly590=)
c.1500A>C (p.Gly500=)
c.1677A>C (p.Gly559=)
c.1455A>C (p.Gly485=)
c.485+15798T>G (n.485+15798T>G)
c.1347A>C (p.Gly449=)
c.1662A>C (p.Gly554=)
c.1617A>C (p.Gly539=)
c.1524A>C (p.Gly508=)
9g.36219978C>ACA373425786CLTA,GNEc.1769G>T (p.Gly590Val)
c.1499G>T (p.Gly500Val)
c.1676G>T (p.Gly559Val)
c.1454G>T (p.Gly485Val)
c.485+15799C>A (n.485+15799C>A)
c.1346G>T (p.Gly449Val)
c.1661G>T (p.Gly554Val)
c.1616G>T (p.Gly539Val)
c.1523G>T (p.Gly508Val)
9g.36219978C>GCA373425787CLTA,GNEc.1769G>C (p.Gly590Ala)
c.1499G>C (p.Gly500Ala)
c.1676G>C (p.Gly559Ala)
c.1454G>C (p.Gly485Ala)
c.485+15799C>G (n.485+15799C>G)
c.1346G>C (p.Gly449Ala)
c.1661G>C (p.Gly554Ala)
c.1616G>C (p.Gly539Ala)
c.1523G>C (p.Gly508Ala)
 gnomAD v4
9g.36219978C>TCA373425789CLTA,GNEc.1769G>A (p.Gly590Glu)
c.1499G>A (p.Gly500Glu)
c.1676G>A (p.Gly559Glu)
c.1454G>A (p.Gly485Glu)
c.485+15799C>T (n.485+15799C>T)
c.1346G>A (p.Gly449Glu)
c.1661G>A (p.Gly554Glu)
c.1616G>A (p.Gly539Glu)
c.1523G>A (p.Gly508Glu)
9g.36219979C>ACA373425790CLTA,GNEc.1768G>T (p.Gly590Ter)
c.1498G>T (p.Gly500Ter)
c.1675G>T (p.Gly559Ter)
c.1453G>T (p.Gly485Ter)
c.485+15800C>A (n.485+15800C>A)
c.1345G>T (p.Gly449Ter)
c.1660G>T (p.Gly554Ter)
c.1615G>T (p.Gly539Ter)
c.1522G>T (p.Gly508Ter)
9g.36219979C=CA1846328806CLTA,GNEc.1768G= (p.Gly590=)
c.1498G= (p.Gly500=)
c.1675G= (p.Gly559=)
c.1453G= (p.Gly485=)
c.485+15800C= (n.485+15800C=)
c.1345G= (p.Gly449=)
c.1660G= (p.Gly554=)
c.1615G= (p.Gly539=)
c.1522G= (p.Gly508=)
9g.36219979C>GCA373425791CLTA,GNEc.1768G>C (p.Gly590Arg)
c.1498G>C (p.Gly500Arg)
c.1675G>C (p.Gly559Arg)
c.1453G>C (p.Gly485Arg)
c.485+15800C>G (n.485+15800C>G)
c.1345G>C (p.Gly449Arg)
c.1660G>C (p.Gly554Arg)
c.1615G>C (p.Gly539Arg)
c.1522G>C (p.Gly508Arg)
9g.36219979C>TCA5056438CLTA,GNEc.1768G>A (p.Gly590Arg)
c.1498G>A (p.Gly500Arg)
c.1675G>A (p.Gly559Arg)
c.1453G>A (p.Gly485Arg)
c.485+15800C>T (n.485+15800C>T)
c.1345G>A (p.Gly449Arg)
c.1660G>A (p.Gly554Arg)
c.1615G>A (p.Gly539Arg)
c.1522G>A (p.Gly508Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.36219980G>ACA192841412CLTA,GNEc.1767C>T (p.His589=)
c.1497C>T (p.His499=)
c.1674C>T (p.His558=)
c.1452C>T (p.His484=)
c.485+15801G>A (n.485+15801G>A)
c.1344C>T (p.His448=)
c.1659C>T (p.His553=)
c.1614C>T (p.His538=)
c.1521C>T (p.His507=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.36219980G>CCA373425793CLTA,GNEc.1767C>G (p.His589Gln)
c.1497C>G (p.His499Gln)
c.1674C>G (p.His558Gln)
c.1452C>G (p.His484Gln)
c.485+15801G>C (n.485+15801G>C)
c.1344C>G (p.His448Gln)
c.1659C>G (p.His553Gln)
c.1614C>G (p.His538Gln)
c.1521C>G (p.His507Gln)
9g.36219980G=CA1846328825CLTA,GNEc.1767C= (p.His589=)
c.1497C= (p.His499=)
c.1674C= (p.His558=)
c.1452C= (p.His484=)
c.485+15801G= (n.485+15801G=)
c.1344C= (p.His448=)
c.1659C= (p.His553=)
c.1614C= (p.His538=)
c.1521C= (p.His507=)
9g.36219980G>TCA373425795CLTA,GNEc.1767C>A (p.His589Gln)
c.1497C>A (p.His499Gln)
c.1674C>A (p.His558Gln)
c.1452C>A (p.His484Gln)
c.485+15801G>T (n.485+15801G>T)
c.1344C>A (p.His448Gln)
c.1659C>A (p.His553Gln)
c.1614C>A (p.His538Gln)
c.1521C>A (p.His507Gln)
 gnomAD v4
9g.36219981T>ACA373425799CLTA,GNEc.1766A>T (p.His589Leu)
c.1496A>T (p.His499Leu)
c.1673A>T (p.His558Leu)
c.1451A>T (p.His484Leu)
c.485+15802T>A (n.485+15802T>A)
c.1343A>T (p.His448Leu)
c.1658A>T (p.His553Leu)
c.1613A>T (p.His538Leu)
c.1520A>T (p.His507Leu)
9g.36219981T>CCA373425798CLTA,GNEc.1766A>G (p.His589Arg)
c.1496A>G (p.His499Arg)
c.1673A>G (p.His558Arg)
c.1451A>G (p.His484Arg)
c.485+15802T>C (n.485+15802T>C)
c.1343A>G (p.His448Arg)
c.1658A>G (p.His553Arg)
c.1613A>G (p.His538Arg)
c.1520A>G (p.His507Arg)
9g.36219981T>GCA373425797CLTA,GNEc.1766A>C (p.His589Pro)
c.1496A>C (p.His499Pro)
c.1673A>C (p.His558Pro)
c.1451A>C (p.His484Pro)
c.485+15802T>G (n.485+15802T>G)
c.1343A>C (p.His448Pro)
c.1658A>C (p.His553Pro)
c.1613A>C (p.His538Pro)
c.1520A>C (p.His507Pro)
9g.36219982G>ACA373425801CLTA,GNEc.1765C>T (p.His589Tyr)
c.1495C>T (p.His499Tyr)
c.1672C>T (p.His558Tyr)
c.1450C>T (p.His484Tyr)
c.485+15803G>A (n.485+15803G>A)
c.1342C>T (p.His448Tyr)
c.1657C>T (p.His553Tyr)
c.1612C>T (p.His538Tyr)
c.1519C>T (p.His507Tyr)
9g.36219982G>CCA373425802CLTA,GNEc.1765C>G (p.His589Asp)
c.1495C>G (p.His499Asp)
c.1672C>G (p.His558Asp)
c.1450C>G (p.His484Asp)
c.485+15803G>C (n.485+15803G>C)
c.1342C>G (p.His448Asp)
c.1657C>G (p.His553Asp)
c.1612C>G (p.His538Asp)
c.1519C>G (p.His507Asp)
9g.36219982G>TCA373425803CLTA,GNEc.1765C>A (p.His589Asn)
c.1495C>A (p.His499Asn)
c.1672C>A (p.His558Asn)
c.1450C>A (p.His484Asn)
c.485+15803G>T (n.485+15803G>T)
c.1342C>A (p.His448Asn)
c.1657C>A (p.His553Asn)
c.1612C>A (p.His538Asn)
c.1519C>A (p.His507Asn)
9g.36219983G>ACA464495020CLTA,GNEc.1764C>T (p.Ile588=)
c.1494C>T (p.Ile498=)
c.1671C>T (p.Ile557=)
c.1449C>T (p.Ile483=)
c.485+15804G>A (n.485+15804G>A)
c.1341C>T (p.Ile447=)
c.1656C>T (p.Ile552=)
c.1611C>T (p.Ile537=)
c.1518C>T (p.Ile506=)
 ClinVar dbSNP
9g.36219983G>CCA373425805CLTA,GNEc.1764C>G (p.Ile588Met)
c.1494C>G (p.Ile498Met)
c.1671C>G (p.Ile557Met)
c.1449C>G (p.Ile483Met)
c.485+15804G>C (n.485+15804G>C)
c.1341C>G (p.Ile447Met)
c.1656C>G (p.Ile552Met)
c.1611C>G (p.Ile537Met)
c.1518C>G (p.Ile506Met)
9g.36219983G=CA1846328831CLTA,GNEc.1764C= (p.Ile588=)
c.1494C= (p.Ile498=)
c.1671C= (p.Ile557=)
c.1449C= (p.Ile483=)
c.485+15804G= (n.485+15804G=)
c.1341C= (p.Ile447=)
c.1656C= (p.Ile552=)
c.1611C= (p.Ile537=)
c.1518C= (p.Ile506=)
9g.36219983G>TCA464495021CLTA,GNEc.1764C>A (p.Ile588=)
c.1494C>A (p.Ile498=)
c.1671C>A (p.Ile557=)
c.1449C>A (p.Ile483=)
c.485+15804G>T (n.485+15804G>T)
c.1341C>A (p.Ile447=)
c.1656C>A (p.Ile552=)
c.1611C>A (p.Ile537=)
c.1518C>A (p.Ile506=)
9g.36219984A=CA1846328834CLTA,GNEc.1763T= (p.Ile588=)
c.1493T= (p.Ile498=)
c.1670T= (p.Ile557=)
c.1448T= (p.Ile483=)
c.485+15805A= (n.485+15805A=)
c.1340T= (p.Ile447=)
c.1655T= (p.Ile552=)
c.1610T= (p.Ile537=)
c.1517T= (p.Ile506=)
9g.36219984A>CCA373425806CLTA,GNEc.1763T>G (p.Ile588Ser)
c.1493T>G (p.Ile498Ser)
c.1670T>G (p.Ile557Ser)
c.1448T>G (p.Ile483Ser)
c.485+15805A>C (n.485+15805A>C)
c.1340T>G (p.Ile447Ser)
c.1655T>G (p.Ile552Ser)
c.1610T>G (p.Ile537Ser)
c.1517T>G (p.Ile506Ser)
9g.36219984A>GCA10606187CLTA,GNEc.1763T>C (p.Ile588Thr)
c.1493T>C (p.Ile498Thr)
c.1670T>C (p.Ile557Thr)
c.1448T>C (p.Ile483Thr)
c.485+15805A>G (n.485+15805A>G)
c.1340T>C (p.Ile447Thr)
c.1655T>C (p.Ile552Thr)
c.1610T>C (p.Ile537Thr)
c.1517T>C (p.Ile506Thr)
 ClinVar dbSNP
9g.36219984A>TCA373425809CLTA,GNEc.1763T>A (p.Ile588Asn)
c.1493T>A (p.Ile498Asn)
c.1670T>A (p.Ile557Asn)
c.1448T>A (p.Ile483Asn)
c.485+15805A>T (n.485+15805A>T)
c.1340T>A (p.Ile447Asn)
c.1655T>A (p.Ile552Asn)
c.1610T>A (p.Ile537Asn)
c.1517T>A (p.Ile506Asn)
9g.36219985T>ACA373425815CLTA,GNEc.1762A>T (p.Ile588Phe)
c.1492A>T (p.Ile498Phe)
c.1669A>T (p.Ile557Phe)
c.1447A>T (p.Ile483Phe)
c.485+15806T>A (n.485+15806T>A)
c.1339A>T (p.Ile447Phe)
c.1654A>T (p.Ile552Phe)
c.1609A>T (p.Ile537Phe)
c.1516A>T (p.Ile506Phe)
9g.36219985T>CCA373425810CLTA,GNEc.1762A>G (p.Ile588Val)
c.1492A>G (p.Ile498Val)
c.1669A>G (p.Ile557Val)
c.1447A>G (p.Ile483Val)
c.485+15806T>C (n.485+15806T>C)
c.1339A>G (p.Ile447Val)
c.1654A>G (p.Ile552Val)
c.1609A>G (p.Ile537Val)
c.1516A>G (p.Ile506Val)
 gnomAD v4
9g.36219985T>GCA373425812CLTA,GNEc.1762A>C (p.Ile588Leu)
c.1492A>C (p.Ile498Leu)
c.1669A>C (p.Ile557Leu)
c.1447A>C (p.Ile483Leu)
c.485+15806T>G (n.485+15806T>G)
c.1339A>C (p.Ile447Leu)
c.1654A>C (p.Ile552Leu)
c.1609A>C (p.Ile537Leu)
c.1516A>C (p.Ile506Leu)
9g.36219986C>ACA373425816CLTA,GNEc.1761G>T (p.Leu587Phe)
c.1491G>T (p.Leu497Phe)
c.1668G>T (p.Leu556Phe)
c.1446G>T (p.Leu482Phe)
c.485+15807C>A (n.485+15807C>A)
c.1338G>T (p.Leu446Phe)
c.1653G>T (p.Leu551Phe)
c.1608G>T (p.Leu536Phe)
c.1515G>T (p.Leu505Phe)
9g.36219986C>GCA373425818CLTA,GNEc.1761G>C (p.Leu587Phe)
c.1491G>C (p.Leu497Phe)
c.1668G>C (p.Leu556Phe)
c.1446G>C (p.Leu482Phe)
c.485+15807C>G (n.485+15807C>G)
c.1338G>C (p.Leu446Phe)
c.1653G>C (p.Leu551Phe)
c.1608G>C (p.Leu536Phe)
c.1515G>C (p.Leu505Phe)
9g.36219986C>TCA464495022CLTA,GNEc.1761G>A (p.Leu587=)
c.1491G>A (p.Leu497=)
c.1668G>A (p.Leu556=)
c.1446G>A (p.Leu482=)
c.485+15807C>T (n.485+15807C>T)
c.1338G>A (p.Leu446=)
c.1653G>A (p.Leu551=)
c.1608G>A (p.Leu536=)
c.1515G>A (p.Leu505=)
9g.36219987A>CCA373425819CLTA,GNEc.1760T>G (p.Leu587Trp)
c.1490T>G (p.Leu497Trp)
c.1667T>G (p.Leu556Trp)
c.1445T>G (p.Leu482Trp)
c.485+15808A>C (n.485+15808A>C)
c.1337T>G (p.Leu446Trp)
c.1652T>G (p.Leu551Trp)
c.1607T>G (p.Leu536Trp)
c.1514T>G (p.Leu505Trp)
9g.36219987A>GCA373425821CLTA,GNEc.1760T>C (p.Leu587Ser)
c.1490T>C (p.Leu497Ser)
c.1667T>C (p.Leu556Ser)
c.1445T>C (p.Leu482Ser)
c.485+15808A>G (n.485+15808A>G)
c.1337T>C (p.Leu446Ser)
c.1652T>C (p.Leu551Ser)
c.1607T>C (p.Leu536Ser)
c.1514T>C (p.Leu505Ser)
9g.36219987A>TCA373425822CLTA,GNEc.1760T>A (p.Leu587Ter)
c.1490T>A (p.Leu497Ter)
c.1667T>A (p.Leu556Ter)
c.1445T>A (p.Leu482Ter)
c.485+15808A>T (n.485+15808A>T)
c.1337T>A (p.Leu446Ter)
c.1652T>A (p.Leu551Ter)
c.1607T>A (p.Leu536Ter)
c.1514T>A (p.Leu505Ter)
9g.36219988A=CA1846328841CLTA,GNEc.1759T= (p.Leu587=)
c.1489T= (p.Leu497=)
c.1666T= (p.Leu556=)
c.1444T= (p.Leu482=)
c.485+15809A= (n.485+15809A=)
c.1336T= (p.Leu446=)
c.1651T= (p.Leu551=)
c.1606T= (p.Leu536=)
c.1513T= (p.Leu505=)
9g.36219988A>CCA373425826CLTA,GNEc.1759T>G (p.Leu587Val)
c.1489T>G (p.Leu497Val)
c.1666T>G (p.Leu556Val)
c.1444T>G (p.Leu482Val)
c.485+15809A>C (n.485+15809A>C)
c.1336T>G (p.Leu446Val)
c.1651T>G (p.Leu551Val)
c.1606T>G (p.Leu536Val)
c.1513T>G (p.Leu505Val)
9g.36219988A>GCA5056439CLTA,GNEc.1759T>C (p.Leu587=)
c.1489T>C (p.Leu497=)
c.1666T>C (p.Leu556=)
c.1444T>C (p.Leu482=)
c.485+15809A>G (n.485+15809A>G)
c.1336T>C (p.Leu446=)
c.1651T>C (p.Leu551=)
c.1606T>C (p.Leu536=)
c.1513T>C (p.Leu505=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.36219988A>TCA373425824CLTA,GNEc.1759T>A (p.Leu587Met)
c.1489T>A (p.Leu497Met)
c.1666T>A (p.Leu556Met)
c.1444T>A (p.Leu482Met)
c.485+15809A>T (n.485+15809A>T)
c.1336T>A (p.Leu446Met)
c.1651T>A (p.Leu551Met)
c.1606T>A (p.Leu536Met)
c.1513T>A (p.Leu505Met)
9g.36219989T>ACA373425827CLTA,GNEc.1758A>T (p.Glu586Asp)
c.1488A>T (p.Glu496Asp)
c.1665A>T (p.Glu555Asp)
c.1443A>T (p.Glu481Asp)
c.485+15810T>A (n.485+15810T>A)
c.1335A>T (p.Glu445Asp)
c.1650A>T (p.Glu550Asp)
c.1605A>T (p.Glu535Asp)
c.1512A>T (p.Glu504Asp)
9g.36219989T>CCA464495023CLTA,GNEc.1758A>G (p.Glu586=)
c.1488A>G (p.Glu496=)
c.1665A>G (p.Glu555=)
c.1443A>G (p.Glu481=)
c.485+15810T>C (n.485+15810T>C)
c.1335A>G (p.Glu445=)
c.1650A>G (p.Glu550=)
c.1605A>G (p.Glu535=)
c.1512A>G (p.Glu504=)
9g.36219989T>GCA373425829CLTA,GNEc.1758A>C (p.Glu586Asp)
c.1488A>C (p.Glu496Asp)
c.1665A>C (p.Glu555Asp)
c.1443A>C (p.Glu481Asp)
c.485+15810T>G (n.485+15810T>G)
c.1335A>C (p.Glu445Asp)
c.1650A>C (p.Glu550Asp)
c.1605A>C (p.Glu535Asp)
c.1512A>C (p.Glu504Asp)
9g.36219990T>ACA373425831CLTA,GNEc.1757A>T (p.Glu586Val)
c.1487A>T (p.Glu496Val)
c.1664A>T (p.Glu555Val)
c.1442A>T (p.Glu481Val)
c.485+15811T>A (n.485+15811T>A)
c.1334A>T (p.Glu445Val)
c.1649A>T (p.Glu550Val)
c.1604A>T (p.Glu535Val)
c.1511A>T (p.Glu504Val)
9g.36219990T>CCA373425832CLTA,GNEc.1757A>G (p.Glu586Gly)
c.1487A>G (p.Glu496Gly)
c.1664A>G (p.Glu555Gly)
c.1442A>G (p.Glu481Gly)
c.485+15811T>C (n.485+15811T>C)
c.1334A>G (p.Glu445Gly)
c.1649A>G (p.Glu550Gly)
c.1604A>G (p.Glu535Gly)
c.1511A>G (p.Glu504Gly)
9g.36219990T>GCA5056440CLTA,GNEc.1757A>C (p.Glu586Ala)
c.1487A>C (p.Glu496Ala)
c.1664A>C (p.Glu555Ala)
c.1442A>C (p.Glu481Ala)
c.485+15811T>G (n.485+15811T>G)
c.1334A>C (p.Glu445Ala)
c.1649A>C (p.Glu550Ala)
c.1604A>C (p.Glu535Ala)
c.1511A>C (p.Glu504Ala)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.36219990T=CA1846328845CLTA,GNEc.1757A= (p.Glu586=)
c.1487A= (p.Glu496=)
c.1664A= (p.Glu555=)
c.1442A= (p.Glu481=)
c.485+15811T= (n.485+15811T=)
c.1334A= (p.Glu445=)
c.1649A= (p.Glu550=)
c.1604A= (p.Glu535=)
c.1511A= (p.Glu504=)
9g.36219991C>ACA373425834CLTA,GNEc.1756G>T (p.Glu586Ter)
c.1486G>T (p.Glu496Ter)
c.1663G>T (p.Glu555Ter)
c.1441G>T (p.Glu481Ter)
c.485+15812C>A (n.485+15812C>A)
c.1333G>T (p.Glu445Ter)
c.1648G>T (p.Glu550Ter)
c.1603G>T (p.Glu535Ter)
c.1510G>T (p.Glu504Ter)
9g.36219991C>GCA373425835CLTA,GNEc.1756G>C (p.Glu586Gln)
c.1486G>C (p.Glu496Gln)
c.1663G>C (p.Glu555Gln)
c.1441G>C (p.Glu481Gln)
c.485+15812C>G (n.485+15812C>G)
c.1333G>C (p.Glu445Gln)
c.1648G>C (p.Glu550Gln)
c.1603G>C (p.Glu535Gln)
c.1510G>C (p.Glu504Gln)
9g.36219991C>TCA373425838CLTA,GNEc.1756G>A (p.Glu586Lys)
c.1486G>A (p.Glu496Lys)
c.1663G>A (p.Glu555Lys)
c.1441G>A (p.Glu481Lys)
c.485+15812C>T (n.485+15812C>T)
c.1333G>A (p.Glu445Lys)
c.1648G>A (p.Glu550Lys)
c.1603G>A (p.Glu535Lys)
c.1510G>A (p.Glu504Lys)
 gnomAD v4
9g.36219992A=CA1846328849CLTA,GNEc.1755T= (p.His585=)
c.1485T= (p.His495=)
c.1662T= (p.His554=)
c.1440T= (p.His480=)
c.485+15813A= (n.485+15813A=)
c.1332T= (p.His444=)
c.1647T= (p.His549=)
c.1602T= (p.His534=)
c.1509T= (p.His503=)
9g.36219992A>CCA5056441CLTA,GNEc.1755T>G (p.His585Gln)
c.1485T>G (p.His495Gln)
c.1662T>G (p.His554Gln)
c.1440T>G (p.His480Gln)
c.485+15813A>C (n.485+15813A>C)
c.1332T>G (p.His444Gln)
c.1647T>G (p.His549Gln)
c.1602T>G (p.His534Gln)
c.1509T>G (p.His503Gln)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.36219992A>GCA464495024CLTA,GNEc.1755T>C (p.His585=)
c.1485T>C (p.His495=)
c.1662T>C (p.His554=)
c.1440T>C (p.His480=)
c.485+15813A>G (n.485+15813A>G)
c.1332T>C (p.His444=)
c.1647T>C (p.His549=)
c.1602T>C (p.His534=)
c.1509T>C (p.His503=)
9g.36219992A>TCA373425840CLTA,GNEc.1755T>A (p.His585Gln)
c.1485T>A (p.His495Gln)
c.1662T>A (p.His554Gln)
c.1440T>A (p.His480Gln)
c.485+15813A>T (n.485+15813A>T)
c.1332T>A (p.His444Gln)
c.1647T>A (p.His549Gln)
c.1602T>A (p.His534Gln)
c.1509T>A (p.His503Gln)
 gnomAD v4
9g.36219993T>ACA373425841CLTA,GNEc.1754A>T (p.His585Leu)
c.1484A>T (p.His495Leu)
c.1661A>T (p.His554Leu)
c.1439A>T (p.His480Leu)
c.485+15814T>A (n.485+15814T>A)
c.1331A>T (p.His444Leu)
c.1646A>T (p.His549Leu)
c.1601A>T (p.His534Leu)
c.1508A>T (p.His503Leu)
9g.36219993T>CCA373425842CLTA,GNEc.1754A>G (p.His585Arg)
c.1484A>G (p.His495Arg)
c.1661A>G (p.His554Arg)
c.1439A>G (p.His480Arg)
c.485+15814T>C (n.485+15814T>C)
c.1331A>G (p.His444Arg)
c.1646A>G (p.His549Arg)
c.1601A>G (p.His534Arg)
c.1508A>G (p.His503Arg)
 ClinVar dbSNP gnomAD v2 gnomAD v4
9g.36219993T>GCA373425843CLTA,GNEc.1754A>C (p.His585Pro)
c.1484A>C (p.His495Pro)
c.1661A>C (p.His554Pro)
c.1439A>C (p.His480Pro)
c.485+15814T>G (n.485+15814T>G)
c.1331A>C (p.His444Pro)
c.1646A>C (p.His549Pro)
c.1601A>C (p.His534Pro)
c.1508A>C (p.His503Pro)
9g.36219993T=CA1846328855CLTA,GNEc.1754A= (p.His585=)
c.1484A= (p.His495=)
c.1661A= (p.His554=)
c.1439A= (p.His480=)
c.485+15814T= (n.485+15814T=)
c.1331A= (p.His444=)
c.1646A= (p.His549=)
c.1601A= (p.His534=)
c.1508A= (p.His503=)
9g.36219994G>ACA5056442CLTA,GNEc.1753C>T (p.His585Tyr)
c.1483C>T (p.His495Tyr)
c.1660C>T (p.His554Tyr)
c.1438C>T (p.His480Tyr)
c.485+15815G>A (n.485+15815G>A)
c.1330C>T (p.His444Tyr)
c.1645C>T (p.His549Tyr)
c.1600C>T (p.His534Tyr)
c.1507C>T (p.His503Tyr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.36219994G>CCA373425847CLTA,GNEc.1753C>G (p.His585Asp)
c.1483C>G (p.His495Asp)
c.1660C>G (p.His554Asp)
c.1438C>G (p.His480Asp)
c.485+15815G>C (n.485+15815G>C)
c.1330C>G (p.His444Asp)
c.1645C>G (p.His549Asp)
c.1600C>G (p.His534Asp)
c.1507C>G (p.His503Asp)
9g.36219994G=CA1846328861CLTA,GNEc.1753C= (p.His585=)
c.1483C= (p.His495=)
c.1660C= (p.His554=)
c.1438C= (p.His480=)
c.485+15815G= (n.485+15815G=)
c.1330C= (p.His444=)
c.1645C= (p.His549=)
c.1600C= (p.His534=)
c.1507C= (p.His503=)
9g.36219994G>TCA373425846CLTA,GNEc.1753C>A (p.His585Asn)
c.1483C>A (p.His495Asn)
c.1660C>A (p.His554Asn)
c.1438C>A (p.His480Asn)
c.485+15815G>T (n.485+15815G>T)
c.1330C>A (p.His444Asn)
c.1645C>A (p.His549Asn)
c.1600C>A (p.His534Asn)
c.1507C>A (p.His503Asn)
9g.36219995C>ACA373425849CLTA,GNEc.1752G>T (p.Gln584His)
c.1482G>T (p.Gln494His)
c.1659G>T (p.Gln553His)
c.1437G>T (p.Gln479His)
c.485+15816C>A (n.485+15816C>A)
c.1329G>T (p.Gln443His)
c.1644G>T (p.Gln548His)
c.1599G>T (p.Gln533His)
c.1506G>T (p.Gln502His)
9g.36219995C>GCA373425851CLTA,GNEc.1752G>C (p.Gln584His)
c.1482G>C (p.Gln494His)
c.1659G>C (p.Gln553His)
c.1437G>C (p.Gln479His)
c.485+15816C>G (n.485+15816C>G)
c.1329G>C (p.Gln443His)
c.1644G>C (p.Gln548His)
c.1599G>C (p.Gln533His)
c.1506G>C (p.Gln502His)
9g.36219995C>TCA464495025CLTA,GNEc.1752G>A (p.Gln584=)
c.1482G>A (p.Gln494=)
c.1659G>A (p.Gln553=)
c.1437G>A (p.Gln479=)
c.485+15816C>T (n.485+15816C>T)
c.1329G>A (p.Gln443=)
c.1644G>A (p.Gln548=)
c.1599G>A (p.Gln533=)
c.1506G>A (p.Gln502=)
9g.36219996T>ACA373425852CLTA,GNEc.1751A>T (p.Gln584Leu)
c.1481A>T (p.Gln494Leu)
c.1658A>T (p.Gln553Leu)
c.1436A>T (p.Gln479Leu)
c.485+15817T>A (n.485+15817T>A)
c.1328A>T (p.Gln443Leu)
c.1643A>T (p.Gln548Leu)
c.1598A>T (p.Gln533Leu)
c.1505A>T (p.Gln502Leu)
9g.36219996T>CCA373425853CLTA,GNEc.1751A>G (p.Gln584Arg)
c.1481A>G (p.Gln494Arg)
c.1658A>G (p.Gln553Arg)
c.1436A>G (p.Gln479Arg)
c.485+15817T>C (n.485+15817T>C)
c.1328A>G (p.Gln443Arg)
c.1643A>G (p.Gln548Arg)
c.1598A>G (p.Gln533Arg)
c.1505A>G (p.Gln502Arg)
9g.36219996T>GCA373425854CLTA,GNEc.1751A>C (p.Gln584Pro)
c.1481A>C (p.Gln494Pro)
c.1658A>C (p.Gln553Pro)
c.1436A>C (p.Gln479Pro)
c.485+15817T>G (n.485+15817T>G)
c.1328A>C (p.Gln443Pro)
c.1643A>C (p.Gln548Pro)
c.1598A>C (p.Gln533Pro)
c.1505A>C (p.Gln502Pro)
9g.36219997G>ACA373425855CLTA,GNEc.1750C>T (p.Gln584Ter)
c.1480C>T (p.Gln494Ter)
c.1657C>T (p.Gln553Ter)
c.1435C>T (p.Gln479Ter)
c.485+15818G>A (n.485+15818G>A)
c.1327C>T (p.Gln443Ter)
c.1642C>T (p.Gln548Ter)
c.1597C>T (p.Gln533Ter)
c.1504C>T (p.Gln502Ter)
 gnomAD v4
9g.36219997G>CCA373425856CLTA,GNEc.1750C>G (p.Gln584Glu)
c.1480C>G (p.Gln494Glu)
c.1657C>G (p.Gln553Glu)
c.1435C>G (p.Gln479Glu)
c.485+15818G>C (n.485+15818G>C)
c.1327C>G (p.Gln443Glu)
c.1642C>G (p.Gln548Glu)
c.1597C>G (p.Gln533Glu)
c.1504C>G (p.Gln502Glu)
9g.36219997G>TCA373425857CLTA,GNEc.1750C>A (p.Gln584Lys)
c.1480C>A (p.Gln494Lys)
c.1657C>A (p.Gln553Lys)
c.1435C>A (p.Gln479Lys)
c.485+15818G>T (n.485+15818G>T)
c.1327C>A (p.Gln443Lys)
c.1642C>A (p.Gln548Lys)
c.1597C>A (p.Gln533Lys)
c.1504C>A (p.Gln502Lys)
9g.36219998A>CCA373425858CLTA,GNEc.1749T>G (p.His583Gln)
c.1479T>G (p.His493Gln)
c.1656T>G (p.His552Gln)
c.1434T>G (p.His478Gln)
c.485+15819A>C (n.485+15819A>C)
c.1326T>G (p.His442Gln)
c.1641T>G (p.His547Gln)
c.1596T>G (p.His532Gln)
c.1503T>G (p.His501Gln)
9g.36219998A>GCA464495026CLTA,GNEc.1749T>C (p.His583=)
c.1479T>C (p.His493=)
c.1656T>C (p.His552=)
c.1434T>C (p.His478=)
c.485+15819A>G (n.485+15819A>G)
c.1326T>C (p.His442=)
c.1641T>C (p.His547=)
c.1596T>C (p.His532=)
c.1503T>C (p.His501=)
9g.36219998A>TCA373425859CLTA,GNEc.1749T>A (p.His583Gln)
c.1479T>A (p.His493Gln)
c.1656T>A (p.His552Gln)
c.1434T>A (p.His478Gln)
c.485+15819A>T (n.485+15819A>T)
c.1326T>A (p.His442Gln)
c.1641T>A (p.His547Gln)
c.1596T>A (p.His532Gln)
c.1503T>A (p.His501Gln)
9g.36219999T>ACA373425860CLTA,GNEc.1748A>T (p.His583Leu)
c.1478A>T (p.His493Leu)
c.1655A>T (p.His552Leu)
c.1433A>T (p.His478Leu)
c.485+15820T>A (n.485+15820T>A)
c.1325A>T (p.His442Leu)
c.1640A>T (p.His547Leu)
c.1595A>T (p.His532Leu)
c.1502A>T (p.His501Leu)
9g.36219999T>CCA373425861CLTA,GNEc.1748A>G (p.His583Arg)
c.1478A>G (p.His493Arg)
c.1655A>G (p.His552Arg)
c.1433A>G (p.His478Arg)
c.485+15820T>C (n.485+15820T>C)
c.1325A>G (p.His442Arg)
c.1640A>G (p.His547Arg)
c.1595A>G (p.His532Arg)
c.1502A>G (p.His501Arg)
 ClinVar
9g.36219999T>GCA373425862CLTA,GNEc.1748A>C (p.His583Pro)
c.1478A>C (p.His493Pro)
c.1655A>C (p.His552Pro)
c.1433A>C (p.His478Pro)
c.485+15820T>G (n.485+15820T>G)
c.1325A>C (p.His442Pro)
c.1640A>C (p.His547Pro)
c.1595A>C (p.His532Pro)
c.1502A>C (p.His501Pro)
9g.36220000G>ACA373425866CLTA,GNEc.1747C>T (p.His583Tyr)
c.1477C>T (p.His493Tyr)
c.1654C>T (p.His552Tyr)
c.1432C>T (p.His478Tyr)
c.485+15821G>A (n.485+15821G>A)
c.1324C>T (p.His442Tyr)
c.1639C>T (p.His547Tyr)
c.1594C>T (p.His532Tyr)
c.1501C>T (p.His501Tyr)
9g.36220000G>CCA373425863CLTA,GNEc.1747C>G (p.His583Asp)
c.1477C>G (p.His493Asp)
c.1654C>G (p.His552Asp)
c.1432C>G (p.His478Asp)
c.485+15821G>C (n.485+15821G>C)
c.1324C>G (p.His442Asp)
c.1639C>G (p.His547Asp)
c.1594C>G (p.His532Asp)
c.1501C>G (p.His501Asp)
9g.36220000G>TCA373425864CLTA,GNEc.1747C>A (p.His583Asn)
c.1477C>A (p.His493Asn)
c.1654C>A (p.His552Asn)
c.1432C>A (p.His478Asn)
c.485+15821G>T (n.485+15821G>T)
c.1324C>A (p.His442Asn)
c.1639C>A (p.His547Asn)
c.1594C>A (p.His532Asn)
c.1501C>A (p.His501Asn)
9g.36220001G>ACA464495027CLTA,GNEc.1746C>T (p.Ile582=)
c.1476C>T (p.Ile492=)
c.1653C>T (p.Ile551=)
c.1431C>T (p.Ile477=)
c.485+15822G>A (n.485+15822G>A)
c.1323C>T (p.Ile441=)
c.1638C>T (p.Ile546=)
c.1593C>T (p.Ile531=)
c.1500C>T (p.Ile500=)
9g.36220001G>CCA373425867CLTA,GNEc.1746C>G (p.Ile582Met)
c.1476C>G (p.Ile492Met)
c.1653C>G (p.Ile551Met)
c.1431C>G (p.Ile477Met)
c.485+15822G>C (n.485+15822G>C)
c.1323C>G (p.Ile441Met)
c.1638C>G (p.Ile546Met)
c.1593C>G (p.Ile531Met)
c.1500C>G (p.Ile500Met)
9g.36220001G>TCA464495028CLTA,GNEc.1746C>A (p.Ile582=)
c.1476C>A (p.Ile492=)
c.1653C>A (p.Ile551=)
c.1431C>A (p.Ile477=)
c.485+15822G>T (n.485+15822G>T)
c.1323C>A (p.Ile441=)
c.1638C>A (p.Ile546=)
c.1593C>A (p.Ile531=)
c.1500C>A (p.Ile500=)
9g.36220002A>CCA373425869CLTA,GNEc.1745T>G (p.Ile582Ser)
c.1475T>G (p.Ile492Ser)
c.1652T>G (p.Ile551Ser)
c.1430T>G (p.Ile477Ser)
c.485+15823A>C (n.485+15823A>C)
c.1322T>G (p.Ile441Ser)
c.1637T>G (p.Ile546Ser)
c.1592T>G (p.Ile531Ser)
c.1499T>G (p.Ile500Ser)
9g.36220002A>GCA373425871CLTA,GNEc.1745T>C (p.Ile582Thr)
c.1475T>C (p.Ile492Thr)
c.1652T>C (p.Ile551Thr)
c.1430T>C (p.Ile477Thr)
c.485+15823A>G (n.485+15823A>G)
c.1322T>C (p.Ile441Thr)
c.1637T>C (p.Ile546Thr)
c.1592T>C (p.Ile531Thr)
c.1499T>C (p.Ile500Thr)
9g.36220002A>TCA373425872CLTA,GNEc.1745T>A (p.Ile582Asn)
c.1475T>A (p.Ile492Asn)
c.1652T>A (p.Ile551Asn)
c.1430T>A (p.Ile477Asn)
c.485+15823A>T (n.485+15823A>T)
c.1322T>A (p.Ile441Asn)
c.1637T>A (p.Ile546Asn)
c.1592T>A (p.Ile531Asn)
c.1499T>A (p.Ile500Asn)
9g.36220003T>ACA373425874CLTA,GNEc.1744A>T (p.Ile582Phe)
c.1474A>T (p.Ile492Phe)
c.1651A>T (p.Ile551Phe)
c.1429A>T (p.Ile477Phe)
c.485+15824T>A (n.485+15824T>A)
c.1321A>T (p.Ile441Phe)
c.1636A>T (p.Ile546Phe)
c.1591A>T (p.Ile531Phe)
c.1498A>T (p.Ile500Phe)
9g.36220003T>CCA5056443CLTA,GNEc.1744A>G (p.Ile582Val)
c.1474A>G (p.Ile492Val)
c.1651A>G (p.Ile551Val)
c.1429A>G (p.Ile477Val)
c.485+15824T>C (n.485+15824T>C)
c.1321A>G (p.Ile441Val)
c.1636A>G (p.Ile546Val)
c.1591A>G (p.Ile531Val)
c.1498A>G (p.Ile500Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.36220003T>GCA373425876CLTA,GNEc.1744A>C (p.Ile582Leu)
c.1474A>C (p.Ile492Leu)
c.1651A>C (p.Ile551Leu)
c.1429A>C (p.Ile477Leu)
c.485+15824T>G (n.485+15824T>G)
c.1321A>C (p.Ile441Leu)
c.1636A>C (p.Ile546Leu)
c.1591A>C (p.Ile531Leu)
c.1498A>C (p.Ile500Leu)
9g.36220003T=CA1846328866CLTA,GNEc.1744A= (p.Ile582=)
c.1474A= (p.Ile492=)
c.1651A= (p.Ile551=)
c.1429A= (p.Ile477=)
c.485+15824T= (n.485+15824T=)
c.1321A= (p.Ile441=)
c.1636A= (p.Ile546=)
c.1591A= (p.Ile531=)
c.1498A= (p.Ile500=)
9g.36220004A>CCA373425878CLTA,GNEc.1743T>G (p.Ile581Met)
c.1473T>G (p.Ile491Met)
c.1650T>G (p.Ile550Met)
c.1428T>G (p.Ile476Met)
c.485+15825A>C (n.485+15825A>C)
c.1320T>G (p.Ile440Met)
c.1635T>G (p.Ile545Met)
c.1590T>G (p.Ile530Met)
c.1497T>G (p.Ile499Met)
9g.36220004A>GCA464495029CLTA,GNEc.1743T>C (p.Ile581=)
c.1473T>C (p.Ile491=)
c.1650T>C (p.Ile550=)
c.1428T>C (p.Ile476=)
c.485+15825A>G (n.485+15825A>G)
c.1320T>C (p.Ile440=)
c.1635T>C (p.Ile545=)
c.1590T>C (p.Ile530=)
c.1497T>C (p.Ile499=)
9g.36220004A>TCA464495031CLTA,GNEc.1743T>A (p.Ile581=)
c.1473T>A (p.Ile491=)
c.1650T>A (p.Ile550=)
c.1428T>A (p.Ile476=)
c.485+15825A>T (n.485+15825A>T)
c.1320T>A (p.Ile440=)
c.1635T>A (p.Ile545=)
c.1590T>A (p.Ile530=)
c.1497T>A (p.Ile499=)
9g.36220005A>CCA373425879CLTA,GNEc.1742T>G (p.Ile581Ser)
c.1472T>G (p.Ile491Ser)
c.1649T>G (p.Ile550Ser)
c.1427T>G (p.Ile476Ser)
c.485+15826A>C (n.485+15826A>C)
c.1319T>G (p.Ile440Ser)
c.1634T>G (p.Ile545Ser)
c.1589T>G (p.Ile530Ser)
c.1496T>G (p.Ile499Ser)
9g.36220005A>GCA373425880CLTA,GNEc.1742T>C (p.Ile581Thr)
c.1472T>C (p.Ile491Thr)
c.1649T>C (p.Ile550Thr)
c.1427T>C (p.Ile476Thr)
c.485+15826A>G (n.485+15826A>G)
c.1319T>C (p.Ile440Thr)
c.1634T>C (p.Ile545Thr)
c.1589T>C (p.Ile530Thr)
c.1496T>C (p.Ile499Thr)
9g.36220005A>TCA373425881CLTA,GNEc.1742T>A (p.Ile581Asn)
c.1472T>A (p.Ile491Asn)
c.1649T>A (p.Ile550Asn)
c.1427T>A (p.Ile476Asn)
c.485+15826A>T (n.485+15826A>T)
c.1319T>A (p.Ile440Asn)
c.1634T>A (p.Ile545Asn)
c.1589T>A (p.Ile530Asn)
c.1496T>A (p.Ile499Asn)
9g.36220006T>ACA373425882CLTA,GNEc.1741A>T (p.Ile581Phe)
c.1471A>T (p.Ile491Phe)
c.1648A>T (p.Ile550Phe)
c.1426A>T (p.Ile476Phe)
c.485+15827T>A (n.485+15827T>A)
c.1318A>T (p.Ile440Phe)
c.1633A>T (p.Ile545Phe)
c.1588A>T (p.Ile530Phe)
c.1495A>T (p.Ile499Phe)
9g.36220006T>CCA373425885CLTA,GNEc.1741A>G (p.Ile581Val)
c.1471A>G (p.Ile491Val)
c.1648A>G (p.Ile550Val)
c.1426A>G (p.Ile476Val)
c.485+15827T>C (n.485+15827T>C)
c.1318A>G (p.Ile440Val)
c.1633A>G (p.Ile545Val)
c.1588A>G (p.Ile530Val)
c.1495A>G (p.Ile499Val)
9g.36220006T>GCA373425883CLTA,GNEc.1741A>C (p.Ile581Leu)
c.1471A>C (p.Ile491Leu)
c.1648A>C (p.Ile550Leu)
c.1426A>C (p.Ile476Leu)
c.485+15827T>G (n.485+15827T>G)
c.1318A>C (p.Ile440Leu)
c.1633A>C (p.Ile545Leu)
c.1588A>C (p.Ile530Leu)
c.1495A>C (p.Ile499Leu)
9g.36220007T>ACA464495035CLTA,GNEc.1740A>T (p.Gly580=)
c.1470A>T (p.Gly490=)
c.1647A>T (p.Gly549=)
c.1425A>T (p.Gly475=)
c.485+15828T>A (n.485+15828T>A)
c.1317A>T (p.Gly439=)
c.1632A>T (p.Gly544=)
c.1587A>T (p.Gly529=)
c.1494A>T (p.Gly498=)
9g.36220007T>CCA464495036CLTA,GNEc.1740A>G (p.Gly580=)
c.1470A>G (p.Gly490=)
c.1647A>G (p.Gly549=)
c.1425A>G (p.Gly475=)
c.485+15828T>C (n.485+15828T>C)
c.1317A>G (p.Gly439=)
c.1632A>G (p.Gly544=)
c.1587A>G (p.Gly529=)
c.1494A>G (p.Gly498=)
9g.36220007T>GCA464495037CLTA,GNEc.1740A>C (p.Gly580=)
c.1470A>C (p.Gly490=)
c.1647A>C (p.Gly549=)
c.1425A>C (p.Gly475=)
c.485+15828T>G (n.485+15828T>G)
c.1317A>C (p.Gly439=)
c.1632A>C (p.Gly544=)
c.1587A>C (p.Gly529=)
c.1494A>C (p.Gly498=)
9g.36220008C>ACA373425886CLTA,GNEc.1739G>T (p.Gly580Val)
c.1469G>T (p.Gly490Val)
c.1646G>T (p.Gly549Val)
c.1424G>T (p.Gly475Val)
c.485+15829C>A (n.485+15829C>A)
c.1316G>T (p.Gly439Val)
c.1631G>T (p.Gly544Val)
c.1586G>T (p.Gly529Val)
c.1493G>T (p.Gly498Val)
9g.36220008C>GCA373425888CLTA,GNEc.1739G>C (p.Gly580Ala)
c.1469G>C (p.Gly490Ala)
c.1646G>C (p.Gly549Ala)
c.1424G>C (p.Gly475Ala)
c.485+15829C>G (n.485+15829C>G)
c.1316G>C (p.Gly439Ala)
c.1631G>C (p.Gly544Ala)
c.1586G>C (p.Gly529Ala)
c.1493G>C (p.Gly498Ala)
9g.36220008C>TCA373425889CLTA,GNEc.1739G>A (p.Gly580Glu)
c.1469G>A (p.Gly490Glu)
c.1646G>A (p.Gly549Glu)
c.1424G>A (p.Gly475Glu)
c.485+15829C>T (n.485+15829C>T)
c.1316G>A (p.Gly439Glu)
c.1631G>A (p.Gly544Glu)
c.1586G>A (p.Gly529Glu)
c.1493G>A (p.Gly498Glu)
9g.36220009C>ACA373425891CLTA,GNEc.1738G>T (p.Gly580Ter)
c.1468G>T (p.Gly490Ter)
c.1645G>T (p.Gly549Ter)
c.1423G>T (p.Gly475Ter)
c.485+15830C>A (n.485+15830C>A)
c.1315G>T (p.Gly439Ter)
c.1630G>T (p.Gly544Ter)
c.1585G>T (p.Gly529Ter)
c.1492G>T (p.Gly498Ter)
9g.36220009C=CA1846328875CLTA,GNEc.1738G= (p.Gly580=)
c.1468G= (p.Gly490=)
c.1645G= (p.Gly549=)
c.1423G= (p.Gly475=)
c.485+15830C= (n.485+15830C=)
c.1315G= (p.Gly439=)
c.1630G= (p.Gly544=)
c.1585G= (p.Gly529=)
c.1492G= (p.Gly498=)
9g.36220009C>GCA373425893CLTA,GNEc.1738G>C (p.Gly580Arg)
c.1468G>C (p.Gly490Arg)
c.1645G>C (p.Gly549Arg)
c.1423G>C (p.Gly475Arg)
c.485+15830C>G (n.485+15830C>G)
c.1315G>C (p.Gly439Arg)
c.1630G>C (p.Gly544Arg)
c.1585G>C (p.Gly529Arg)
c.1492G>C (p.Gly498Arg)
9g.36220009C>TCA373425894CLTA,GNEc.1738G>A (p.Gly580Arg)
c.1468G>A (p.Gly490Arg)
c.1645G>A (p.Gly549Arg)
c.1423G>A (p.Gly475Arg)
c.485+15830C>T (n.485+15830C>T)
c.1315G>A (p.Gly439Arg)
c.1630G>A (p.Gly544Arg)
c.1585G>A (p.Gly529Arg)
c.1492G>A (p.Gly498Arg)
 dbSNP gnomAD v3 gnomAD v4
9g.36220010A>CCA464495041CLTA,GNEc.1737T>G (p.Gly579=)
c.1467T>G (p.Gly489=)
c.1644T>G (p.Gly548=)
c.1422T>G (p.Gly474=)
c.485+15831A>C (n.485+15831A>C)
c.1314T>G (p.Gly438=)
c.1629T>G (p.Gly543=)
c.1584T>G (p.Gly528=)
c.1491T>G (p.Gly497=)
9g.36220010A>GCA464495039CLTA,GNEc.1737T>C (p.Gly579=)
c.1467T>C (p.Gly489=)
c.1644T>C (p.Gly548=)
c.1422T>C (p.Gly474=)
c.485+15831A>G (n.485+15831A>G)
c.1314T>C (p.Gly438=)
c.1629T>C (p.Gly543=)
c.1584T>C (p.Gly528=)
c.1491T>C (p.Gly497=)
9g.36220010A>TCA464495040CLTA,GNEc.1737T>A (p.Gly579=)
c.1467T>A (p.Gly489=)
c.1644T>A (p.Gly548=)
c.1422T>A (p.Gly474=)
c.485+15831A>T (n.485+15831A>T)
c.1314T>A (p.Gly438=)
c.1629T>A (p.Gly543=)
c.1584T>A (p.Gly528=)
c.1491T>A (p.Gly497=)
9g.36220011C>ACA373425899CLTA,GNEc.1736G>T (p.Gly579Val)
c.1466G>T (p.Gly489Val)
c.1643G>T (p.Gly548Val)
c.1421G>T (p.Gly474Val)
c.485+15832C>A (n.485+15832C>A)
c.1313G>T (p.Gly438Val)
c.1628G>T (p.Gly543Val)
c.1583G>T (p.Gly528Val)
c.1490G>T (p.Gly497Val)
9g.36220011C>GCA373425897CLTA,GNEc.1736G>C (p.Gly579Ala)
c.1466G>C (p.Gly489Ala)
c.1643G>C (p.Gly548Ala)
c.1421G>C (p.Gly474Ala)
c.485+15832C>G (n.485+15832C>G)
c.1313G>C (p.Gly438Ala)
c.1628G>C (p.Gly543Ala)
c.1583G>C (p.Gly528Ala)
c.1490G>C (p.Gly497Ala)
9g.36220011C>TCA373425896CLTA,GNEc.1736G>A (p.Gly579Asp)
c.1466G>A (p.Gly489Asp)
c.1643G>A (p.Gly548Asp)
c.1421G>A (p.Gly474Asp)
c.485+15832C>T (n.485+15832C>T)
c.1313G>A (p.Gly438Asp)
c.1628G>A (p.Gly543Asp)
c.1583G>A (p.Gly528Asp)
c.1490G>A (p.Gly497Asp)
9g.36220012delCA2573144637CLTA,GNEc.1736del (p.Gly579ValfsTer9)
c.1466del (p.Gly489ValfsTer9)
c.1643del (p.Gly548ValfsTer9)
c.1421del (p.Gly474ValfsTer9)
c.485+15833del (n.485+15833del)
c.1313del (p.Gly438ValfsTer9)
c.1628del (p.Gly543ValfsTer9)
c.1583del (p.Gly528ValfsTer9)
c.1490del (p.Gly497ValfsTer9)
 ClinVar dbSNP
9g.36220012C>ACA373425901CLTA,GNEc.1735G>T (p.Gly579Cys)
c.1465G>T (p.Gly489Cys)
c.1642G>T (p.Gly548Cys)
c.1420G>T (p.Gly474Cys)
c.485+15833C>A (n.485+15833C>A)
c.1312G>T (p.Gly438Cys)
c.1627G>T (p.Gly543Cys)
c.1582G>T (p.Gly528Cys)
c.1489G>T (p.Gly497Cys)
9g.36220012C>GCA373425902CLTA,GNEc.1735G>C (p.Gly579Arg)
c.1465G>C (p.Gly489Arg)
c.1642G>C (p.Gly548Arg)
c.1420G>C (p.Gly474Arg)
c.485+15833C>G (n.485+15833C>G)
c.1312G>C (p.Gly438Arg)
c.1627G>C (p.Gly543Arg)
c.1582G>C (p.Gly528Arg)
c.1489G>C (p.Gly497Arg)
9g.36220012C>TCA373425904CLTA,GNEc.1735G>A (p.Gly579Ser)
c.1465G>A (p.Gly489Ser)
c.1642G>A (p.Gly548Ser)
c.1420G>A (p.Gly474Ser)
c.485+15833C>T (n.485+15833C>T)
c.1312G>A (p.Gly438Ser)
c.1627G>A (p.Gly543Ser)
c.1582G>A (p.Gly528Ser)
c.1489G>A (p.Gly497Ser)
9g.36220013A>CCA464495043CLTA,GNEc.1734T>G (p.Gly578=)
c.1464T>G (p.Gly488=)
c.1641T>G (p.Gly547=)
c.1419T>G (p.Gly473=)
c.485+15834A>C (n.485+15834A>C)
c.1311T>G (p.Gly437=)
c.1626T>G (p.Gly542=)
c.1581T>G (p.Gly527=)
c.1488T>G (p.Gly496=)
9g.36220013A>GCA464495044CLTA,GNEc.1734T>C (p.Gly578=)
c.1464T>C (p.Gly488=)
c.1641T>C (p.Gly547=)
c.1419T>C (p.Gly473=)
c.485+15834A>G (n.485+15834A>G)
c.1311T>C (p.Gly437=)
c.1626T>C (p.Gly542=)
c.1581T>C (p.Gly527=)
c.1488T>C (p.Gly496=)
9g.36220013A>TCA464495045CLTA,GNEc.1734T>A (p.Gly578=)
c.1464T>A (p.Gly488=)
c.1641T>A (p.Gly547=)
c.1419T>A (p.Gly473=)
c.485+15834A>T (n.485+15834A>T)
c.1311T>A (p.Gly437=)
c.1626T>A (p.Gly542=)
c.1581T>A (p.Gly527=)
c.1488T>A (p.Gly496=)
9g.36220014C>ACA373425906CLTA,GNEc.1733G>T (p.Gly578Val)
c.1463G>T (p.Gly488Val)
c.1640G>T (p.Gly547Val)
c.1418G>T (p.Gly473Val)
c.485+15835C>A (n.485+15835C>A)
c.1310G>T (p.Gly437Val)
c.1625G>T (p.Gly542Val)
c.1580G>T (p.Gly527Val)
c.1487G>T (p.Gly496Val)
 gnomAD v4
9g.36220014C=CA1846328906CLTA,GNEc.1733G= (p.Gly578=)
c.1463G= (p.Gly488=)
c.1640G= (p.Gly547=)
c.1418G= (p.Gly473=)
c.485+15835C= (n.485+15835C=)
c.1310G= (p.Gly437=)
c.1625G= (p.Gly542=)
c.1580G= (p.Gly527=)
c.1487G= (p.Gly496=)
9g.36220014C>GCA373425907CLTA,GNEc.1733G>C (p.Gly578Ala)
c.1463G>C (p.Gly488Ala)
c.1640G>C (p.Gly547Ala)
c.1418G>C (p.Gly473Ala)
c.485+15835C>G (n.485+15835C>G)
c.1310G>C (p.Gly437Ala)
c.1625G>C (p.Gly542Ala)
c.1580G>C (p.Gly527Ala)
c.1487G>C (p.Gly496Ala)
 gnomAD v4
9g.36220014C>TCA373425908CLTA,GNEc.1733G>A (p.Gly578Asp)
c.1463G>A (p.Gly488Asp)
c.1640G>A (p.Gly547Asp)
c.1418G>A (p.Gly473Asp)
c.485+15835C>T (n.485+15835C>T)
c.1310G>A (p.Gly437Asp)
c.1625G>A (p.Gly542Asp)
c.1580G>A (p.Gly527Asp)
c.1487G>A (p.Gly496Asp)
 dbSNP
9g.36220015C>ACA373425910CLTA,GNEc.1732G>T (p.Gly578Cys)
c.1462G>T (p.Gly488Cys)
c.1639G>T (p.Gly547Cys)
c.1417G>T (p.Gly473Cys)
c.485+15836C>A (n.485+15836C>A)
c.1309G>T (p.Gly437Cys)
c.1624G>T (p.Gly542Cys)
c.1579G>T (p.Gly527Cys)
c.1486G>T (p.Gly496Cys)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.36220015C=CA1846328918CLTA,GNEc.1732G= (p.Gly578=)
c.1462G= (p.Gly488=)
c.1639G= (p.Gly547=)
c.1417G= (p.Gly473=)
c.485+15836C= (n.485+15836C=)
c.1309G= (p.Gly437=)
c.1624G= (p.Gly542=)
c.1579G= (p.Gly527=)
c.1486G= (p.Gly496=)
9g.36220015C>GCA373425914CLTA,GNEc.1732G>C (p.Gly578Arg)
c.1462G>C (p.Gly488Arg)
c.1639G>C (p.Gly547Arg)
c.1417G>C (p.Gly473Arg)
c.485+15836C>G (n.485+15836C>G)
c.1309G>C (p.Gly437Arg)
c.1624G>C (p.Gly542Arg)
c.1579G>C (p.Gly527Arg)
c.1486G>C (p.Gly496Arg)
9g.36220015C>TCA373425912CLTA,GNEc.1732G>A (p.Gly578Ser)
c.1462G>A (p.Gly488Ser)
c.1639G>A (p.Gly547Ser)
c.1417G>A (p.Gly473Ser)
c.485+15836C>T (n.485+15836C>T)
c.1309G>A (p.Gly437Ser)
c.1624G>A (p.Gly542Ser)
c.1579G>A (p.Gly527Ser)
c.1486G>A (p.Gly496Ser)
 ClinVar dbSNP gnomAD v2 gnomAD v4
9g.36220016G>ACA5056444CLTA,GNEc.1731C>T (p.Ile577=)
c.1461C>T (p.Ile487=)
c.1638C>T (p.Ile546=)
c.1416C>T (p.Ile472=)
c.485+15837G>A (n.485+15837G>A)
c.1308C>T (p.Ile436=)
c.1623C>T (p.Ile541=)
c.1578C>T (p.Ile526=)
c.1485C>T (p.Ile495=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.36220016G>CCA373425915CLTA,GNEc.1731C>G (p.Ile577Met)
c.1461C>G (p.Ile487Met)
c.1638C>G (p.Ile546Met)
c.1416C>G (p.Ile472Met)
c.485+15837G>C (n.485+15837G>C)
c.1308C>G (p.Ile436Met)
c.1623C>G (p.Ile541Met)
c.1578C>G (p.Ile526Met)
c.1485C>G (p.Ile495Met)
9g.36220016G=CA1846328925CLTA,GNEc.1731C= (p.Ile577=)
c.1461C= (p.Ile487=)
c.1638C= (p.Ile546=)
c.1416C= (p.Ile472=)
c.485+15837G= (n.485+15837G=)
c.1308C= (p.Ile436=)
c.1623C= (p.Ile541=)
c.1578C= (p.Ile526=)
c.1485C= (p.Ile495=)
9g.36220016G>TCA464495049CLTA,GNEc.1731C>A (p.Ile577=)
c.1461C>A (p.Ile487=)
c.1638C>A (p.Ile546=)
c.1416C>A (p.Ile472=)
c.485+15837G>T (n.485+15837G>T)
c.1308C>A (p.Ile436=)
c.1623C>A (p.Ile541=)
c.1578C>A (p.Ile526=)
c.1485C>A (p.Ile495=)
 ClinVar dbSNP gnomAD v4
9g.36220017A>CCA373425917CLTA,GNEc.1730T>G (p.Ile577Ser)
c.1460T>G (p.Ile487Ser)
c.1637T>G (p.Ile546Ser)
c.1415T>G (p.Ile472Ser)
c.485+15838A>C (n.485+15838A>C)
c.1307T>G (p.Ile436Ser)
c.1622T>G (p.Ile541Ser)
c.1577T>G (p.Ile526Ser)
c.1484T>G (p.Ile495Ser)
9g.36220017A>GCA373425919CLTA,GNEc.1730T>C (p.Ile577Thr)
c.1460T>C (p.Ile487Thr)
c.1637T>C (p.Ile546Thr)
c.1415T>C (p.Ile472Thr)
c.485+15838A>G (n.485+15838A>G)
c.1307T>C (p.Ile436Thr)
c.1622T>C (p.Ile541Thr)
c.1577T>C (p.Ile526Thr)
c.1484T>C (p.Ile495Thr)
9g.36220017A>TCA373425920CLTA,GNEc.1730T>A (p.Ile577Asn)
c.1460T>A (p.Ile487Asn)
c.1637T>A (p.Ile546Asn)
c.1415T>A (p.Ile472Asn)
c.485+15838A>T (n.485+15838A>T)
c.1307T>A (p.Ile436Asn)
c.1622T>A (p.Ile541Asn)
c.1577T>A (p.Ile526Asn)
c.1484T>A (p.Ile495Asn)
9g.36220018T>ACA373425922CLTA,GNEc.1729A>T (p.Ile577Phe)
c.1459A>T (p.Ile487Phe)
c.1636A>T (p.Ile546Phe)
c.1414A>T (p.Ile472Phe)
c.485+15839T>A (n.485+15839T>A)
c.1306A>T (p.Ile436Phe)
c.1621A>T (p.Ile541Phe)
c.1576A>T (p.Ile526Phe)
c.1483A>T (p.Ile495Phe)
9g.36220018T>CCA5056445CLTA,GNEc.1729A>G (p.Ile577Val)
c.1459A>G (p.Ile487Val)
c.1636A>G (p.Ile546Val)
c.1414A>G (p.Ile472Val)
c.485+15839T>C (n.485+15839T>C)
c.1306A>G (p.Ile436Val)
c.1621A>G (p.Ile541Val)
c.1576A>G (p.Ile526Val)
c.1483A>G (p.Ile495Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.36220018T>GCA373425923CLTA,GNEc.1729A>C (p.Ile577Leu)
c.1459A>C (p.Ile487Leu)
c.1636A>C (p.Ile546Leu)
c.1414A>C (p.Ile472Leu)
c.485+15839T>G (n.485+15839T>G)
c.1306A>C (p.Ile436Leu)
c.1621A>C (p.Ile541Leu)
c.1576A>C (p.Ile526Leu)
c.1483A>C (p.Ile495Leu)
9g.36220018T=CA1846328933CLTA,GNEc.1729A= (p.Ile577=)
c.1459A= (p.Ile487=)
c.1636A= (p.Ile546=)
c.1414A= (p.Ile472=)
c.485+15839T= (n.485+15839T=)
c.1306A= (p.Ile436=)
c.1621A= (p.Ile541=)
c.1576A= (p.Ile526=)
c.1483A= (p.Ile495=)
9g.36220019T>ACA464495051CLTA,GNEc.1728A>T (p.Gly576=)
c.1458A>T (p.Gly486=)
c.1635A>T (p.Gly545=)
c.1413A>T (p.Gly471=)
c.485+15840T>A (n.485+15840T>A)
c.1305A>T (p.Gly435=)
c.1620A>T (p.Gly540=)
c.1575A>T (p.Gly525=)
c.1482A>T (p.Gly494=)
9g.36220019T>CCA464495052CLTA,GNEc.1728A>G (p.Gly576=)
c.1458A>G (p.Gly486=)
c.1635A>G (p.Gly545=)
c.1413A>G (p.Gly471=)
c.485+15840T>C (n.485+15840T>C)
c.1305A>G (p.Gly435=)
c.1620A>G (p.Gly540=)
c.1575A>G (p.Gly525=)
c.1482A>G (p.Gly494=)
9g.36220019T>GCA464495053CLTA,GNEc.1728A>C (p.Gly576=)
c.1458A>C (p.Gly486=)
c.1635A>C (p.Gly545=)
c.1413A>C (p.Gly471=)
c.485+15840T>G (n.485+15840T>G)
c.1305A>C (p.Gly435=)
c.1620A>C (p.Gly540=)
c.1575A>C (p.Gly525=)
c.1482A>C (p.Gly494=)
9g.36220020C>ACA373425924CLTA,GNEc.1727G>T (p.Gly576Val)
c.1457G>T (p.Gly486Val)
c.1634G>T (p.Gly545Val)
c.1412G>T (p.Gly471Val)
c.485+15841C>A (n.485+15841C>A)
c.1304G>T (p.Gly435Val)
c.1619G>T (p.Gly540Val)
c.1574G>T (p.Gly525Val)
c.1481G>T (p.Gly494Val)
9g.36220020C>GCA373425925CLTA,GNEc.1727G>C (p.Gly576Ala)
c.1457G>C (p.Gly486Ala)
c.1634G>C (p.Gly545Ala)
c.1412G>C (p.Gly471Ala)
c.485+15841C>G (n.485+15841C>G)
c.1304G>C (p.Gly435Ala)
c.1619G>C (p.Gly540Ala)
c.1574G>C (p.Gly525Ala)
c.1481G>C (p.Gly494Ala)
9g.36220020C>TCA373425927CLTA,GNEc.1727G>A (p.Gly576Glu)
c.1457G>A (p.Gly486Glu)
c.1634G>A (p.Gly545Glu)
c.1412G>A (p.Gly471Glu)
c.485+15841C>T (n.485+15841C>T)
c.1304G>A (p.Gly435Glu)
c.1619G>A (p.Gly540Glu)
c.1574G>A (p.Gly525Glu)
c.1481G>A (p.Gly494Glu)
 ClinVar gnomAD v4
9g.36220021delCA2695206255CLTA,GNEc.1727del
c.1457del
c.1634del
c.1412del
c.485+15842del (n.485+15842del)
c.1304del
c.1619del
c.1574del
c.1481del
9g.36220021C>ACA373425929CLTA,GNEc.1727-1G>T (n.1727-1G>T)
c.1457-1G>T (n.1457-1G>T)
c.1634-1G>T (n.1634-1G>T)
c.1412-1G>T (n.1412-1G>T)
c.485+15842C>A (n.485+15842C>A)
c.1304-1G>T (n.1304-1G>T)
c.1619-1G>T (n.1619-1G>T)
c.1574-1G>T (n.1574-1G>T)
c.1481-1G>T (n.1481-1G>T)
9g.36220021C>GCA373425932CLTA,GNEc.1727-1G>C (n.1727-1G>C)
c.1457-1G>C (n.1457-1G>C)
c.1634-1G>C (n.1634-1G>C)
c.1412-1G>C (n.1412-1G>C)
c.485+15842C>G (n.485+15842C>G)
c.1304-1G>C (n.1304-1G>C)
c.1619-1G>C (n.1619-1G>C)
c.1574-1G>C (n.1574-1G>C)
c.1481-1G>C (n.1481-1G>C)
9g.36220021C>TCA373425930CLTA,GNEc.1727-1G>A (n.1727-1G>A)
c.1457-1G>A (n.1457-1G>A)
c.1634-1G>A (n.1634-1G>A)
c.1412-1G>A (n.1412-1G>A)
c.485+15842C>T (n.485+15842C>T)
c.1304-1G>A (n.1304-1G>A)
c.1619-1G>A (n.1619-1G>A)
c.1574-1G>A (n.1574-1G>A)
c.1481-1G>A (n.1481-1G>A)
9g.36220022T>ACA373425933CLTA,GNEc.1727-2A>T (n.1727-2A>T)
c.1457-2A>T (n.1457-2A>T)
c.1634-2A>T (n.1634-2A>T)
c.1412-2A>T (n.1412-2A>T)
c.485+15843T>A (n.485+15843T>A)
c.1304-2A>T (n.1304-2A>T)
c.1619-2A>T (n.1619-2A>T)
c.1574-2A>T (n.1574-2A>T)
c.1481-2A>T (n.1481-2A>T)
9g.36220022T>CCA373425935CLTA,GNEc.1727-2A>G (n.1727-2A>G)
c.1457-2A>G (n.1457-2A>G)
c.1634-2A>G (n.1634-2A>G)
c.1412-2A>G (n.1412-2A>G)
c.485+15843T>C (n.485+15843T>C)
c.1304-2A>G (n.1304-2A>G)
c.1619-2A>G (n.1619-2A>G)
c.1574-2A>G (n.1574-2A>G)
c.1481-2A>G (n.1481-2A>G)
9g.36220022T>GCA373425937CLTA,GNEc.1727-2A>C (n.1727-2A>C)
c.1457-2A>C (n.1457-2A>C)
c.1634-2A>C (n.1634-2A>C)
c.1412-2A>C (n.1412-2A>C)
c.485+15843T>G (n.485+15843T>G)
c.1304-2A>C (n.1304-2A>C)
c.1619-2A>C (n.1619-2A>C)
c.1574-2A>C (n.1574-2A>C)
c.1481-2A>C (n.1481-2A>C)
 gnomAD v4
9g.36220023A>GCA2573144638CLTA,GNEc.1727-3T>C (n.1727-3T>C)
c.1457-3T>C (n.1457-3T>C)
c.1634-3T>C (n.1634-3T>C)
c.1412-3T>C (n.1412-3T>C)
c.485+15844A>G (n.485+15844A>G)
c.1304-3T>C (n.1304-3T>C)
c.1619-3T>C (n.1619-3T>C)
c.1574-3T>C (n.1574-3T>C)
c.1481-3T>C (n.1481-3T>C)
 ClinVar dbSNP gnomAD v4
9g.36220024C>ACA192841477CLTA,GNEc.1727-4G>T (n.1727-4G>T)
c.1457-4G>T (n.1457-4G>T)
c.1634-4G>T (n.1634-4G>T)
c.1412-4G>T (n.1412-4G>T)
c.485+15845C>A (n.485+15845C>A)
c.1304-4G>T (n.1304-4G>T)
c.1619-4G>T (n.1619-4G>T)
c.1574-4G>T (n.1574-4G>T)
c.1481-4G>T (n.1481-4G>T)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.36220024C=CA1846328936CLTA,GNEc.1727-4G= (n.1727-4G=)
c.1457-4G= (n.1457-4G=)
c.1634-4G= (n.1634-4G=)
c.1412-4G= (n.1412-4G=)
c.485+15845C= (n.485+15845C=)
c.1304-4G= (n.1304-4G=)
c.1619-4G= (n.1619-4G=)
c.1574-4G= (n.1574-4G=)
c.1481-4G= (n.1481-4G=)
9g.36220024C>GCA2740095471CLTA,GNEc.1727-4G>C (n.1727-4G>C)
c.1457-4G>C (n.1457-4G>C)
c.1634-4G>C (n.1634-4G>C)
c.1412-4G>C (n.1412-4G>C)
c.485+15845C>G (n.485+15845C>G)
c.1304-4G>C (n.1304-4G>C)
c.1619-4G>C (n.1619-4G>C)
c.1574-4G>C (n.1574-4G>C)
c.1481-4G>C (n.1481-4G>C)
 ClinVar
9g.36220025A=CA1846328938CLTA,GNEc.1727-5T= (n.1727-5T=)
c.1457-5T= (n.1457-5T=)
c.1634-5T= (n.1634-5T=)
c.1412-5T= (n.1412-5T=)
c.485+15846A= (n.485+15846A=)
c.1304-5T= (n.1304-5T=)
c.1619-5T= (n.1619-5T=)
c.1574-5T= (n.1574-5T=)
c.1481-5T= (n.1481-5T=)
9g.36220025A>GCA2689945241CLTA,GNEc.1727-5T>C (n.1727-5T>C)
c.1457-5T>C (n.1457-5T>C)
c.1634-5T>C (n.1634-5T>C)
c.1412-5T>C (n.1412-5T>C)
c.485+15846A>G (n.485+15846A>G)
c.1304-5T>C (n.1304-5T>C)
c.1619-5T>C (n.1619-5T>C)
c.1574-5T>C (n.1574-5T>C)
c.1481-5T>C (n.1481-5T>C)
 gnomAD v4
9g.36220025A>TCA587786884CLTA,GNEc.1727-5T>A (n.1727-5T>A)
c.1457-5T>A (n.1457-5T>A)
c.1634-5T>A (n.1634-5T>A)
c.1412-5T>A (n.1412-5T>A)
c.485+15846A>T (n.485+15846A>T)
c.1304-5T>A (n.1304-5T>A)
c.1619-5T>A (n.1619-5T>A)
c.1574-5T>A (n.1574-5T>A)
c.1481-5T>A (n.1481-5T>A)
 dbSNP gnomAD v2 gnomAD v4
9g.36220026G>ACA2783549471CLTA,GNEc.1727-6C>T (n.1727-6C>T)
c.1457-6C>T (n.1457-6C>T)
c.1634-6C>T (n.1634-6C>T)
c.1412-6C>T (n.1412-6C>T)
c.485+15847G>A (n.485+15847G>A)
c.1304-6C>T (n.1304-6C>T)
c.1619-6C>T (n.1619-6C>T)
c.1574-6C>T (n.1574-6C>T)
c.1481-6C>T (n.1481-6C>T)
9g.36220026G>TCA2504097067CLTA,GNEc.1727-6C>A (n.1727-6C>A)
c.1457-6C>A (n.1457-6C>A)
c.1634-6C>A (n.1634-6C>A)
c.1412-6C>A (n.1412-6C>A)
c.485+15847G>T (n.485+15847G>T)
c.1304-6C>A (n.1304-6C>A)
c.1619-6C>A (n.1619-6C>A)
c.1574-6C>A (n.1574-6C>A)
c.1481-6C>A (n.1481-6C>A)
 ClinVar gnomAD v4
9g.36220027C=CA1846328944CLTA,GNEc.1727-7G= (n.1727-7G=)
c.1457-7G= (n.1457-7G=)
c.1634-7G= (n.1634-7G=)
c.1412-7G= (n.1412-7G=)
c.485+15848C= (n.485+15848C=)
c.1304-7G= (n.1304-7G=)
c.1619-7G= (n.1619-7G=)
c.1574-7G= (n.1574-7G=)
c.1481-7G= (n.1481-7G=)
9g.36220027C>GCA2573144639CLTA,GNEc.1727-7G>C (n.1727-7G>C)
c.1457-7G>C (n.1457-7G>C)
c.1634-7G>C (n.1634-7G>C)
c.1412-7G>C (n.1412-7G>C)
c.485+15848C>G (n.485+15848C>G)
c.1304-7G>C (n.1304-7G>C)
c.1619-7G>C (n.1619-7G>C)
c.1574-7G>C (n.1574-7G>C)
c.1481-7G>C (n.1481-7G>C)
 ClinVar dbSNP gnomAD v4
9g.36220027C>TCA5056446CLTA,GNEc.1727-7G>A (n.1727-7G>A)
c.1457-7G>A (n.1457-7G>A)
c.1634-7G>A (n.1634-7G>A)
c.1412-7G>A (n.1412-7G>A)
c.485+15848C>T (n.485+15848C>T)
c.1304-7G>A (n.1304-7G>A)
c.1619-7G>A (n.1619-7G>A)
c.1574-7G>A (n.1574-7G>A)
c.1481-7G>A (n.1481-7G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.36220028G>ACA5056447CLTA,GNEc.1727-8C>T (n.1727-8C>T)
c.1457-8C>T (n.1457-8C>T)
c.1634-8C>T (n.1634-8C>T)
c.1412-8C>T (n.1412-8C>T)
c.485+15849G>A (n.485+15849G>A)
c.1304-8C>T (n.1304-8C>T)
c.1619-8C>T (n.1619-8C>T)
c.1574-8C>T (n.1574-8C>T)
c.1481-8C>T (n.1481-8C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.36220028G=CA1846328961CLTA,GNEc.1727-8C= (n.1727-8C=)
c.1457-8C= (n.1457-8C=)
c.1634-8C= (n.1634-8C=)
c.1412-8C= (n.1412-8C=)
c.485+15849G= (n.485+15849G=)
c.1304-8C= (n.1304-8C=)
c.1619-8C= (n.1619-8C=)
c.1574-8C= (n.1574-8C=)
c.1481-8C= (n.1481-8C=)
9g.36220030G>ACA2580080489CLTA,GNEc.1727-10C>T (n.1727-10C>T)
c.1457-10C>T (n.1457-10C>T)
c.1634-10C>T (n.1634-10C>T)
c.1412-10C>T (n.1412-10C>T)
c.485+15851G>A (n.485+15851G>A)
c.1304-10C>T (n.1304-10C>T)
c.1619-10C>T (n.1619-10C>T)
c.1574-10C>T (n.1574-10C>T)
c.1481-10C>T (n.1481-10C>T)
 ClinVar
9g.36220030G>TCA2579338266CLTA,GNEc.1727-10C>A (n.1727-10C>A)
c.1457-10C>A (n.1457-10C>A)
c.1634-10C>A (n.1634-10C>A)
c.1412-10C>A (n.1412-10C>A)
c.485+15851G>T (n.485+15851G>T)
c.1304-10C>A (n.1304-10C>A)
c.1619-10C>A (n.1619-10C>A)
c.1574-10C>A (n.1574-10C>A)
c.1481-10C>A (n.1481-10C>A)
 gnomAD v4
9g.36220031G>ACA192841494CLTA,GNEc.1727-11C>T (n.1727-11C>T)
c.1457-11C>T (n.1457-11C>T)
c.1634-11C>T (n.1634-11C>T)
c.1412-11C>T (n.1412-11C>T)
c.485+15852G>A (n.485+15852G>A)
c.1304-11C>T (n.1304-11C>T)
c.1619-11C>T (n.1619-11C>T)
c.1574-11C>T (n.1574-11C>T)
c.1481-11C>T (n.1481-11C>T)
 ClinVar dbSNP gnomAD v4
9g.36220031G=CA1846328965CLTA,GNEc.1727-11C= (n.1727-11C=)
c.1457-11C= (n.1457-11C=)
c.1634-11C= (n.1634-11C=)
c.1412-11C= (n.1412-11C=)
c.485+15852G= (n.485+15852G=)
c.1304-11C= (n.1304-11C=)
c.1619-11C= (n.1619-11C=)
c.1574-11C= (n.1574-11C=)
c.1481-11C= (n.1481-11C=)
9g.36220032G>CCA2689945271CLTA,GNEc.1727-12C>G (n.1727-12C>G)
c.1457-12C>G (n.1457-12C>G)
c.1634-12C>G (n.1634-12C>G)
c.1412-12C>G (n.1412-12C>G)
c.485+15853G>C (n.485+15853G>C)
c.1304-12C>G (n.1304-12C>G)
c.1619-12C>G (n.1619-12C>G)
c.1574-12C>G (n.1574-12C>G)
c.1481-12C>G (n.1481-12C>G)
 gnomAD v4
9g.36220032G>TCA2689945272CLTA,GNEc.1727-12C>A (n.1727-12C>A)
c.1457-12C>A (n.1457-12C>A)
c.1634-12C>A (n.1634-12C>A)
c.1412-12C>A (n.1412-12C>A)
c.485+15853G>T (n.485+15853G>T)
c.1304-12C>A (n.1304-12C>A)
c.1619-12C>A (n.1619-12C>A)
c.1574-12C>A (n.1574-12C>A)
c.1481-12C>A (n.1481-12C>A)
 gnomAD v4
9g.36220033A=CA1846328969CLTA,GNEc.1727-13T= (n.1727-13T=)
c.1457-13T= (n.1457-13T=)
c.1634-13T= (n.1634-13T=)
c.1412-13T= (n.1412-13T=)
c.485+15854A= (n.485+15854A=)
c.1304-13T= (n.1304-13T=)
c.1619-13T= (n.1619-13T=)
c.1574-13T= (n.1574-13T=)
c.1481-13T= (n.1481-13T=)
9g.36220033A>CCA2580080490CLTA,GNEc.1727-13T>G (n.1727-13T>G)
c.1457-13T>G (n.1457-13T>G)
c.1634-13T>G (n.1634-13T>G)
c.1412-13T>G (n.1412-13T>G)
c.485+15854A>C (n.485+15854A>C)
c.1304-13T>G (n.1304-13T>G)
c.1619-13T>G (n.1619-13T>G)
c.1574-13T>G (n.1574-13T>G)
c.1481-13T>G (n.1481-13T>G)
 ClinVar
9g.36220033A>GCA5056448CLTA,GNEc.1727-13T>C (n.1727-13T>C)
c.1457-13T>C (n.1457-13T>C)
c.1634-13T>C (n.1634-13T>C)
c.1412-13T>C (n.1412-13T>C)
c.485+15854A>G (n.485+15854A>G)
c.1304-13T>C (n.1304-13T>C)
c.1619-13T>C (n.1619-13T>C)
c.1574-13T>C (n.1574-13T>C)
c.1481-13T>C (n.1481-13T>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.36220034T>CCA2689945282CLTA,GNEc.1727-14A>G (n.1727-14A>G)
c.1457-14A>G (n.1457-14A>G)
c.1634-14A>G (n.1634-14A>G)
c.1412-14A>G (n.1412-14A>G)
c.485+15855T>C (n.485+15855T>C)
c.1304-14A>G (n.1304-14A>G)
c.1619-14A>G (n.1619-14A>G)
c.1574-14A>G (n.1574-14A>G)
c.1481-14A>G (n.1481-14A>G)
 ClinVar gnomAD v4
9g.36220036G>ACA2580080491CLTA,GNEc.1727-16C>T (n.1727-16C>T)
c.1457-16C>T (n.1457-16C>T)
c.1634-16C>T (n.1634-16C>T)
c.1412-16C>T (n.1412-16C>T)
c.485+15857G>A (n.485+15857G>A)
c.1304-16C>T (n.1304-16C>T)
c.1619-16C>T (n.1619-16C>T)
c.1574-16C>T (n.1574-16C>T)
c.1481-16C>T (n.1481-16C>T)
 ClinVar
9g.36220037A>GCA2689945284CLTA,GNEc.1727-17T>C (n.1727-17T>C)
c.1457-17T>C (n.1457-17T>C)
c.1634-17T>C (n.1634-17T>C)
c.1412-17T>C (n.1412-17T>C)
c.485+15858A>G (n.485+15858A>G)
c.1304-17T>C (n.1304-17T>C)
c.1619-17T>C (n.1619-17T>C)
c.1574-17T>C (n.1574-17T>C)
c.1481-17T>C (n.1481-17T>C)
 gnomAD v4

Number of alleles fetched