Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.135817372C>ACA348605632LCTc.1676G>T (p.Gly559Val)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.135817372C=CA1290834754LCTc.1676G= (p.Gly559=)
2g.135817372C>GCA348605633LCTc.1676G>C (p.Gly559Ala)
2g.135817372C>TCA348605634LCTc.1676G>A (p.Gly559Asp)
gnomAD v4
2g.135817373C>ACA348605636LCTc.1675G>T (p.Gly559Cys)
2g.135817373C=CA1290834755LCTc.1675G= (p.Gly559=)
2g.135817373C>GCA348605635LCTc.1675G>C (p.Gly559Arg)
COSMIC
2g.135817373C>TCA1888362LCTc.1675G>A (p.Gly559Ser)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.135817374G>ACA1888363LCTc.1674C>T (p.Pro558=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.135817374G>CCA429204489LCTc.1674C>G (p.Pro558=)
2g.135817374G=CA1290834756LCTc.1674C= (p.Pro558=)
2g.135817374G>TCA429204490LCTc.1674C>A (p.Pro558=)
dbSNP
2g.135817375G>ACA348605637LCTc.1673C>T (p.Pro558Leu)
2g.135817375G>CCA348605638LCTc.1673C>G (p.Pro558Arg)
2g.135817375G>TCA348605639LCTc.1673C>A (p.Pro558His)
gnomAD v4
2g.135817376G>ACA348605640LCTc.1672C>T (p.Pro558Ser)
dbSNP
2g.135817376G>CCA348605641LCTc.1672C>G (p.Pro558Ala)
2g.135817376G=CA1290834757LCTc.1672C= (p.Pro558=)
2g.135817376G>TCA348605642LCTc.1672C>A (p.Pro558Thr)
2g.135817377A>CCA429204493LCTc.1671T>G (p.Pro557=)
2g.135817377A>GCA429204492LCTc.1671T>C (p.Pro557=)
2g.135817377A>TCA429204491LCTc.1671T>A (p.Pro557=)
2g.135817378G>ACA348605645LCTc.1670C>T (p.Pro557Leu)
2g.135817378G>CCA348605643LCTc.1670C>G (p.Pro557Arg)
dbSNP
2g.135817378G=CA1290834758LCTc.1670C= (p.Pro557=)
2g.135817378G>TCA348605644LCTc.1670C>A (p.Pro557His)
2g.135817379G>ACA348605646LCTc.1669C>T (p.Pro557Ser)
dbSNP gnomAD v3 gnomAD v4 COSMIC
2g.135817379G>CCA348605647LCTc.1669C>G (p.Pro557Ala)
2g.135817379G=CA1290834759LCTc.1669C= (p.Pro557=)
2g.135817379G>TCA348605648LCTc.1669C>A (p.Pro557Thr)
2g.135817380G>ACA429204494LCTc.1668C>T (p.His556=)
2g.135817380G>CCA348605649LCTc.1668C>G (p.His556Gln)
2g.135817380G>TCA348605650LCTc.1668C>A (p.His556Gln)
2g.135817381T>ACA348605653LCTc.1667A>T (p.His556Leu)
2g.135817381T>CCA348605651LCTc.1667A>G (p.His556Arg)
2g.135817381T>GCA348605652LCTc.1667A>C (p.His556Pro)
dbSNP
2g.135817381T=CA1290834760LCTc.1667A= (p.His556=)
2g.135817382G>ACA348605654LCTc.1666C>T (p.His556Tyr)
2g.135817382G>CCA348605655LCTc.1666C>G (p.His556Asp)
2g.135817382G>TCA348605656LCTc.1666C>A (p.His556Asn)
2g.135817383C>ACA348605657LCTc.1665G>T (p.Gln555His)
2g.135817383C>GCA348605658LCTc.1665G>C (p.Gln555His)
2g.135817383C>TCA429204495LCTc.1665G>A (p.Gln555=)
2g.135817384T>ACA348605661LCTc.1664A>T (p.Gln555Leu)
2g.135817384T>CCA348605660LCTc.1664A>G (p.Gln555Arg)
2g.135817384T>GCA348605659LCTc.1664A>C (p.Gln555Pro)
2g.135817385G>ACA348605662LCTc.1663C>T (p.Gln555Ter)
2g.135817385G>CCA348605663LCTc.1663C>G (p.Gln555Glu)
ClinVar dbSNP
2g.135817385G>TCA348605664LCTc.1663C>A (p.Gln555Lys)
2g.135817386G>ACA429204496LCTc.1662C>T (p.Gly554=)
dbSNP gnomAD v4
2g.135817386G>CCA429204497LCTc.1662C>G (p.Gly554=)
2g.135817386G=CA1290834761LCTc.1662C= (p.Gly554=)
2g.135817386G>TCA429204498LCTc.1662C>A (p.Gly554=)
2g.135817387C>ACA348605665LCTc.1661G>T (p.Gly554Val)
2g.135817387C>GCA348605666LCTc.1661G>C (p.Gly554Ala)
2g.135817387C>TCA348605667LCTc.1661G>A (p.Gly554Asp)
gnomAD v4
2g.135817388C>ACA348605668LCTc.1660G>T (p.Gly554Cys)
2g.135817388C=CA1290834762LCTc.1660G= (p.Gly554=)
2g.135817388C>GCA348605669LCTc.1660G>C (p.Gly554Arg)
dbSNP
2g.135817388C>TCA56623342LCTc.1660G>A (p.Gly554Ser)
ClinVar dbSNP gnomAD v2 gnomAD v4
2g.135817389G>ACA1888364LCTc.1659C>T (p.Thr553=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.135817389G>CCA429204499LCTc.1659C>G (p.Thr553=)
2g.135817389G=CA1290834763LCTc.1659C= (p.Thr553=)
2g.135817389G>TCA429204500LCTc.1659C>A (p.Thr553=)
2g.135817390G>ACA348605670LCTc.1658C>T (p.Thr553Ile)
2g.135817390G>CCA348605671LCTc.1658C>G (p.Thr553Ser)
2g.135817390G=CA1290834764LCTc.1658C= (p.Thr553=)
2g.135817390G>TCA56623353LCTc.1658C>A (p.Thr553Asn)
dbSNP
2g.135817391T>ACA348605672LCTc.1657A>T (p.Thr553Ser)
2g.135817391T>CCA348605673LCTc.1657A>G (p.Thr553Ala)
2g.135817391T>GCA348605674LCTc.1657A>C (p.Thr553Pro)
2g.135817392G>ACA429204501LCTc.1656C>T (p.Gly552=)
2g.135817392G>CCA429204502LCTc.1656C>G (p.Gly552=)
2g.135817392G>TCA429204503LCTc.1656C>A (p.Gly552=)
2g.135817393C>ACA348605675LCTc.1655G>T (p.Gly552Val)
2g.135817393C>GCA348605676LCTc.1655G>C (p.Gly552Ala)
2g.135817393C>TCA348605677LCTc.1655G>A (p.Gly552Asp)
gnomAD v4
2g.135817394C>ACA348605678LCTc.1654G>T (p.Gly552Cys)
2g.135817394C>GCA348605679LCTc.1654G>C (p.Gly552Arg)
2g.135817394C>TCA348605680LCTc.1654G>A (p.Gly552Ser)
2g.135817395A=CA1290834765LCTc.1653T= (p.Tyr551=)
2g.135817395A>CCA348605682LCTc.1653T>G (p.Tyr551Ter)
2g.135817395A>GCA429204504LCTc.1653T>C (p.Tyr551=)
dbSNP gnomAD v4
2g.135817395A>TCA348605681LCTc.1653T>A (p.Tyr551Ter)
2g.135817396T>ACA348605683LCTc.1652A>T (p.Tyr551Phe)
2g.135817396T>CCA348605684LCTc.1652A>G (p.Tyr551Cys)
dbSNP gnomAD v3 gnomAD v4
2g.135817396T>GCA348605685LCTc.1652A>C (p.Tyr551Ser)
2g.135817396T=CA1290834766LCTc.1652A= (p.Tyr551=)
2g.135817397A>CCA348605686LCTc.1651T>G (p.Tyr551Asp)
2g.135817397A>GCA348605687LCTc.1651T>C (p.Tyr551His)
2g.135817397A>TCA348605688LCTc.1651T>A (p.Tyr551Asn)
2g.135817398G>ACA429204505LCTc.1650C>T (p.Gly550=)
2g.135817398G>CCA1888365LCTc.1650C>G (p.Gly550=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.135817398G=CA1290834767LCTc.1650C= (p.Gly550=)
2g.135817398G>TCA429204506LCTc.1650C>A (p.Gly550=)
2g.135817399C>ACA348605689LCTc.1649G>T (p.Gly550Val)
2g.135817399C>GCA348605690LCTc.1649G>C (p.Gly550Ala)
2g.135817399C>TCA348605691LCTc.1649G>A (p.Gly550Asp)
gnomAD v4
2g.135817400C>ACA348605692LCTc.1648G>T (p.Gly550Cys)
2g.135817400C=CA1290834768LCTc.1648G= (p.Gly550=)
2g.135817400C>GCA348605693LCTc.1648G>C (p.Gly550Arg)
2g.135817400C>TCA56623378LCTc.1648G>A (p.Gly550Ser)
dbSNP
2g.135817401T>ACA429204507LCTc.1647A>T (p.Ala549=)
2g.135817401T>CCA429204508LCTc.1647A>G (p.Ala549=)
dbSNP
2g.135817401T>GCA429204509LCTc.1647A>C (p.Ala549=)
2g.135817401T=CA1290834769LCTc.1647A= (p.Ala549=)
2g.135817402G>ACA348605696LCTc.1646C>T (p.Ala549Val)
gnomAD v4
2g.135817402G>CCA348605694LCTc.1646C>G (p.Ala549Gly)
2g.135817402G>TCA348605695LCTc.1646C>A (p.Ala549Glu)
2g.135817403C>ACA348605697LCTc.1645G>T (p.Ala549Ser)
2g.135817403C=CA1290834770LCTc.1645G= (p.Ala549=)
2g.135817403C>GCA348605699LCTc.1645G>C (p.Ala549Pro)
2g.135817403C>TCA348605698LCTc.1645G>A (p.Ala549Thr)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.135817404G>ACA1888366LCTc.1644C>T (p.Tyr548=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.135817404G>CCA348605700LCTc.1644C>G (p.Tyr548Ter)
gnomAD v4
2g.135817404G=CA1290834771LCTc.1644C= (p.Tyr548=)
2g.135817404G>TCA348605701LCTc.1644C>A (p.Tyr548Ter)
2g.135817405T>ACA348605702LCTc.1643A>T (p.Tyr548Phe)
gnomAD v4
2g.135817405T>CCA348605703LCTc.1643A>G (p.Tyr548Cys)
2g.135817405T>GCA348605704LCTc.1643A>C (p.Tyr548Ser)
2g.135817406A=CA1290834772LCTc.1642T= (p.Tyr548=)
2g.135817406A>CCA348605705LCTc.1642T>G (p.Tyr548Asp)
2g.135817406A>GCA348605706LCTc.1642T>C (p.Tyr548His)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.135817406A>TCA348605707LCTc.1642T>A (p.Tyr548Asn)
2g.135817407G>ACA429204510LCTc.1641C>T (p.Ser547=)
2g.135817407G>CCA348605708LCTc.1641C>G (p.Ser547Arg)
2g.135817407G>TCA348605709LCTc.1641C>A (p.Ser547Arg)
2g.135817408C>ACA348605712LCTc.1640G>T (p.Ser547Ile)
2g.135817408C>GCA348605711LCTc.1640G>C (p.Ser547Thr)
2g.135817408C>TCA348605710LCTc.1640G>A (p.Ser547Asn)
2g.135817409T>ACA348605713LCTc.1639A>T (p.Ser547Cys)
2g.135817409T>CCA348605714LCTc.1639A>G (p.Ser547Gly)
2g.135817409T>GCA348605715LCTc.1639A>C (p.Ser547Arg)
2g.135817410C>ACA348605716LCTc.1638G>T (p.Met546Ile)
dbSNP
2g.135817410C=CA1290834773LCTc.1638G= (p.Met546=)
2g.135817410C>GCA348605717LCTc.1638G>C (p.Met546Ile)
2g.135817410C>TCA348605718LCTc.1638G>A (p.Met546Ile)
2g.135817411A>CCA348605719LCTc.1637T>G (p.Met546Arg)
2g.135817411A>GCA348605720LCTc.1637T>C (p.Met546Thr)
2g.135817411A>TCA348605721LCTc.1637T>A (p.Met546Lys)
2g.135817412T>ACA348605722LCTc.1636A>T (p.Met546Leu)
2g.135817412T>CCA348605723LCTc.1636A>G (p.Met546Val)
2g.135817412T>GCA348605724LCTc.1636A>C (p.Met546Leu)
2g.135817413C>ACA429204513LCTc.1635G>T (p.Val545=)
dbSNP
2g.135817413C=CA1290834774LCTc.1635G= (p.Val545=)
2g.135817413C>GCA429204511LCTc.1635G>C (p.Val545=)
2g.135817413C>TCA429204512LCTc.1635G>A (p.Val545=)
2g.135817414A>CCA348605727LCTc.1634T>G (p.Val545Gly)
2g.135817414A>GCA348605726LCTc.1634T>C (p.Val545Ala)
2g.135817414A>TCA348605725LCTc.1634T>A (p.Val545Glu)
2g.135817415C>ACA348605730LCTc.1633G>T (p.Val545Leu)
2g.135817415C>GCA348605728LCTc.1633G>C (p.Val545Leu)
2g.135817415C>TCA348605729LCTc.1633G>A (p.Val545Met)
2g.135817416C>ACA348605731LCTc.1632G>T (p.Trp544Cys)
2g.135817416C>GCA348605732LCTc.1632G>C (p.Trp544Cys)
2g.135817416C>TCA348605733LCTc.1632G>A (p.Trp544Ter)
2g.135817417C>ACA348605734LCTc.1631G>T (p.Trp544Leu)
2g.135817417C>GCA348605735LCTc.1631G>C (p.Trp544Ser)
2g.135817417C>TCA348605736LCTc.1631G>A (p.Trp544Ter)
COSMIC
2g.135817418A>CCA348605737LCTc.1630T>G (p.Trp544Gly)
2g.135817418A>GCA348605738LCTc.1630T>C (p.Trp544Arg)
2g.135817418A>TCA348605739LCTc.1630T>A (p.Trp544Arg)
2g.135817419C>ACA429204514LCTc.1629G>T (p.Pro543=)
2g.135817419C=CA1290834775LCTc.1629G= (p.Pro543=)
2g.135817419C>GCA429204515LCTc.1629G>C (p.Pro543=)
2g.135817419C>TCA1888367LCTc.1629G>A (p.Pro543=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.135817420G>ACA348605741LCTc.1628C>T (p.Pro543Leu)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.135817420G>CCA348605742LCTc.1628C>G (p.Pro543Arg)
2g.135817420G=CA1290834776LCTc.1628C= (p.Pro543=)
2g.135817420G>TCA348605740LCTc.1628C>A (p.Pro543Gln)
2g.135817421G>ACA348605743LCTc.1627C>T (p.Pro543Ser)
2g.135817421G>CCA348605744LCTc.1627C>G (p.Pro543Ala)
2g.135817421G=CA1290834777LCTc.1627C= (p.Pro543=)
2g.135817421G>TCA348605745LCTc.1627C>A (p.Pro543Thr)
dbSNP gnomAD v4 COSMIC
2g.135817422C>ACA348605746LCTc.1626G>T (p.Glu542Asp)
2g.135817422C=CA1290834778LCTc.1626G= (p.Glu542=)
2g.135817422C>GCA348605747LCTc.1626G>C (p.Glu542Asp)
2g.135817422C>TCA429204516LCTc.1626G>A (p.Glu542=)
dbSNP
2g.135817423T>ACA348605750LCTc.1625A>T (p.Glu542Val)
2g.135817423T>CCA348605748LCTc.1625A>G (p.Glu542Gly)
2g.135817423T>GCA348605749LCTc.1625A>C (p.Glu542Ala)
2g.135817424C>ACA348605751LCTc.1624G>T (p.Glu542Ter)
2g.135817424C=CA1290834779LCTc.1624G= (p.Glu542=)
2g.135817424C>GCA348605752LCTc.1624G>C (p.Glu542Gln)
2g.135817424C>TCA348605753LCTc.1624G>A (p.Glu542Lys)
dbSNP gnomAD v3 gnomAD v4
2g.135817425A=CA1290834780LCTc.1623T= (p.His541=)
2g.135817425A>CCA348605754LCTc.1623T>G (p.His541Gln)
2g.135817425A>GCA1888368LCTc.1623T>C (p.His541=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.135817425A>TCA348605755LCTc.1623T>A (p.His541Gln)
2g.135817426T>ACA348605757LCTc.1622A>T (p.His541Leu)
2g.135817426T>CCA1888369LCTc.1622A>G (p.His541Arg)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.135817426T>GCA348605756LCTc.1622A>C (p.His541Pro)
COSMIC
2g.135817426T=CA1290834781LCTc.1622A= (p.His541=)
2g.135817427G>ACA348605758LCTc.1621C>T (p.His541Tyr)
dbSNP gnomAD v2 gnomAD v4
2g.135817427G>CCA348605760LCTc.1621C>G (p.His541Asp)
2g.135817427G=CA1290834782LCTc.1621C= (p.His541=)
2g.135817427G>TCA348605759LCTc.1621C>A (p.His541Asn)
2g.135817428delCA2661275752LCTc.1621del (p.His541MetfsTer5)
gnomAD v4
2g.135817428G>ACA429204517LCTc.1620C>T (p.Phe540=)
2g.135817428G>CCA348605761LCTc.1620C>G (p.Phe540Leu)
2g.135817428G>TCA348605762LCTc.1620C>A (p.Phe540Leu)
2g.135817429A=CA1290834783LCTc.1619T= (p.Phe540=)
2g.135817429A>CCA348605763LCTc.1619T>G (p.Phe540Cys)
dbSNP
2g.135817429A>GCA348605764LCTc.1619T>C (p.Phe540Ser)
2g.135817429A>TCA348605765LCTc.1619T>A (p.Phe540Tyr)
2g.135817430A>CCA348605766LCTc.1618T>G (p.Phe540Val)
2g.135817430A>GCA348605767LCTc.1618T>C (p.Phe540Leu)
2g.135817430A>TCA348605768LCTc.1618T>A (p.Phe540Ile)
2g.135817431G>ACA1888370LCTc.1617C>T (p.Thr539=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.135817431G>CCA429204518LCTc.1617C>G (p.Thr539=)
2g.135817431G=CA1290834784LCTc.1617C= (p.Thr539=)
2g.135817431G>TCA429204519LCTc.1617C>A (p.Thr539=)
dbSNP gnomAD v2 gnomAD v4
2g.135817432G>ACA348605769LCTc.1616C>T (p.Thr539Ile)
2g.135817432G>CCA348605770LCTc.1616C>G (p.Thr539Ser)
2g.135817432G>TCA348605771LCTc.1616C>A (p.Thr539Asn)
2g.135817433T>ACA348605774LCTc.1615A>T (p.Thr539Ser)
dbSNP gnomAD v3 gnomAD v4
2g.135817433T>CCA348605772LCTc.1615A>G (p.Thr539Ala)
2g.135817433T>GCA348605773LCTc.1615A>C (p.Thr539Pro)
2g.135817433T=CA1290834785LCTc.1615A= (p.Thr539=)
2g.135817434C>ACA429204522LCTc.1614G>T (p.Val538=)
2g.135817434C>GCA429204521LCTc.1614G>C (p.Val538=)
ClinVar
2g.135817434C>TCA429204520LCTc.1614G>A (p.Val538=)
2g.135817435A=CA1290834786LCTc.1613T= (p.Val538=)
2g.135817435A>CCA348605775LCTc.1613T>G (p.Val538Gly)
2g.135817435A>GCA348605776LCTc.1613T>C (p.Val538Ala)
2g.135817435A>TCA348605777LCTc.1613T>A (p.Val538Glu)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.135817436C>ACA348605778LCTc.1612G>T (p.Val538Leu)
2g.135817436C=CA1290834787LCTc.1612G= (p.Val538=)
2g.135817436C>GCA348605779LCTc.1612G>C (p.Val538Leu)
dbSNP gnomAD v3 gnomAD v4
2g.135817436C>TCA56623402LCTc.1612G>A (p.Val538Met)
dbSNP
2g.135817437C>ACA348605780LCTc.1611G>T (p.Trp537Cys)
gnomAD v4
2g.135817437C>GCA348605781LCTc.1611G>C (p.Trp537Cys)
2g.135817437C>TCA348605782LCTc.1611G>A (p.Trp537Ter)
2g.135817438C>ACA348605783LCTc.1610G>T (p.Trp537Leu)
2g.135817438C>GCA348605784LCTc.1610G>C (p.Trp537Ser)
2g.135817438C>TCA348605785LCTc.1610G>A (p.Trp537Ter)
2g.135817439A>CCA348605788LCTc.1609T>G (p.Trp537Gly)
2g.135817439A>GCA348605787LCTc.1609T>C (p.Trp537Arg)
2g.135817439A>TCA348605786LCTc.1609T>A (p.Trp537Arg)
2g.135817440C>ACA429204523LCTc.1608G>T (p.Leu536=)
2g.135817440C>GCA429204525LCTc.1608G>C (p.Leu536=)
2g.135817440C>TCA429204524LCTc.1608G>A (p.Leu536=)
ClinVar gnomAD v4
2g.135817441A>CCA348605791LCTc.1607T>G (p.Leu536Arg)
2g.135817441A>GCA348605789LCTc.1607T>C (p.Leu536Pro)
2g.135817441A>TCA348605790LCTc.1607T>A (p.Leu536Gln)
2g.135817442G>ACA429204526LCTc.1606C>T (p.Leu536=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.135817442G>CCA348605792LCTc.1606C>G (p.Leu536Val)
2g.135817442G=CA1290834788LCTc.1606C= (p.Leu536=)
2g.135817442G>TCA348605793LCTc.1606C>A (p.Leu536Met)
dbSNP
2g.135817443C>ACA348605794LCTc.1605G>T (p.Lys535Asn)
2g.135817443C>GCA348605795LCTc.1605G>C (p.Lys535Asn)
2g.135817443C>TCA429204527LCTc.1605G>A (p.Lys535=)
2g.135817444T>ACA348605796LCTc.1604A>T (p.Lys535Met)
2g.135817444T>CCA348605797LCTc.1604A>G (p.Lys535Arg)
2g.135817444T>GCA348605798LCTc.1604A>C (p.Lys535Thr)
2g.135817445T>ACA348605799LCTc.1603A>T (p.Lys535Ter)
2g.135817445T>CCA348605800LCTc.1603A>G (p.Lys535Glu)
2g.135817445T>GCA348605801LCTc.1603A>C (p.Lys535Gln)
2g.135817446C>ACA429204528LCTc.1602G>T (p.Val534=)
2g.135817446C>GCA429204529LCTc.1602G>C (p.Val534=)
2g.135817446C>TCA429204530LCTc.1602G>A (p.Val534=)
2g.135817447A>CCA348605803LCTc.1601T>G (p.Val534Gly)
2g.135817447A>GCA348605804LCTc.1601T>C (p.Val534Ala)
2g.135817447A>TCA348605802LCTc.1601T>A (p.Val534Glu)
2g.135817448C>ACA348605805LCTc.1600G>T (p.Val534Leu)
2g.135817448C>GCA348605806LCTc.1600G>C (p.Val534Leu)
2g.135817448C>TCA348605807LCTc.1600G>A (p.Val534Met)
gnomAD v4
2g.135817449A>CCA429204532LCTc.1599T>G (p.Arg533=)
2g.135817449A>GCA429204533LCTc.1599T>C (p.Arg533=)
2g.135817449A>TCA429204531LCTc.1599T>A (p.Arg533=)
2g.135817450C>ACA348605808LCTc.1598G>T (p.Arg533Leu)
COSMIC
2g.135817450C=CA1290834789LCTc.1598G= (p.Arg533=)
2g.135817450C>GCA348605809LCTc.1598G>C (p.Arg533Pro)
2g.135817450C>TCA348605810LCTc.1598G>A (p.Arg533His)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.135817451G>ACA348605811LCTc.1597C>T (p.Arg533Cys)
dbSNP gnomAD v2 gnomAD v4
2g.135817451G>CCA348605813LCTc.1597C>G (p.Arg533Gly)
2g.135817451G=CA1290834790LCTc.1597C= (p.Arg533=)
2g.135817451G>TCA348605812LCTc.1597C>A (p.Arg533Ser)
2g.135817452G>ACA429204534LCTc.1596C>T (p.Asp532=)
2g.135817452G>CCA348605814LCTc.1596C>G (p.Asp532Glu)
2g.135817452G>TCA348605815LCTc.1596C>A (p.Asp532Glu)
2g.135817453T>ACA348605816LCTc.1595A>T (p.Asp532Val)
2g.135817453T>CCA348605817LCTc.1595A>G (p.Asp532Gly)
2g.135817453T>GCA348605818LCTc.1595A>C (p.Asp532Ala)
2g.135817454C>ACA348605820LCTc.1594G>T (p.Asp532Tyr)
2g.135817454C>GCA348605821LCTc.1594G>C (p.Asp532His)
2g.135817454C>TCA348605819LCTc.1594G>A (p.Asp532Asn)
2g.135817455C>ACA429204535LCTc.1593G>T (p.Gly531=)
2g.135817455C=CA1290834791LCTc.1593G= (p.Gly531=)
2g.135817455C>GCA429204536LCTc.1593G>C (p.Gly531=)
2g.135817455C>TCA1888371LCTc.1593G>A (p.Gly531=)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.135817456C>ACA348605824LCTc.1592G>T (p.Gly531Val)
2g.135817456C>GCA348605822LCTc.1592G>C (p.Gly531Ala)
2g.135817456C>TCA348605823LCTc.1592G>A (p.Gly531Glu)
gnomAD v4
2g.135817457C>ACA348605825LCTc.1591G>T (p.Gly531Trp)
2g.135817457C>GCA348605826LCTc.1591G>C (p.Gly531Arg)
2g.135817457C>TCA348605827LCTc.1591G>A (p.Gly531Arg)
2g.135817458A>CCA348605828LCTc.1590T>G (p.Phe530Leu)
2g.135817458A>GCA429204537LCTc.1590T>C (p.Phe530=)
2g.135817458A>TCA348605829LCTc.1590T>A (p.Phe530Leu)
2g.135817459A=CA1290834792LCTc.1589T= (p.Phe530=)
2g.135817459A>CCA348605830LCTc.1589T>G (p.Phe530Cys)
2g.135817459A>GCA348605831LCTc.1589T>C (p.Phe530Ser)
dbSNP gnomAD v4
2g.135817459A>TCA348605832LCTc.1589T>A (p.Phe530Tyr)
2g.135817460A=CA1290834793LCTc.1588T= (p.Phe530=)
2g.135817460A>CCA348605833LCTc.1588T>G (p.Phe530Val)
2g.135817460A>GCA348605834LCTc.1588T>C (p.Phe530Leu)
dbSNP gnomAD v3 gnomAD v4
2g.135817460A>TCA348605835LCTc.1588T>A (p.Phe530Ile)
2g.135817461T>ACA429204538LCTc.1587A>T (p.Thr529=)
dbSNP
2g.135817461T>CCA429204539LCTc.1587A>G (p.Thr529=)
2g.135817461T>GCA429204540LCTc.1587A>C (p.Thr529=)
dbSNP
2g.135817461T=CA1290834794LCTc.1587A= (p.Thr529=)
2g.135817462G>ACA348605838LCTc.1586C>T (p.Thr529Ile)
gnomAD v4
2g.135817462G>CCA348605836LCTc.1586C>G (p.Thr529Arg)
2g.135817462G>TCA348605837LCTc.1586C>A (p.Thr529Lys)
2g.135817463T>ACA348605839LCTc.1585A>T (p.Thr529Ser)
2g.135817463T>CCA1888372LCTc.1585A>G (p.Thr529Ala)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.135817463T>GCA348605840LCTc.1585A>C (p.Thr529Pro)
2g.135817463T=CA1290834795LCTc.1585A= (p.Thr529=)
2g.135817464G>ACA429204541LCTc.1584C>T (p.Ser528=)
2g.135817464G>CCA429204542LCTc.1584C>G (p.Ser528=)
2g.135817464G>TCA429204543LCTc.1584C>A (p.Ser528=)
2g.135817465G>ACA348605841LCTc.1583C>T (p.Ser528Phe)
2g.135817465G>CCA348605842LCTc.1583C>G (p.Ser528Cys)
2g.135817465G>TCA348605843LCTc.1583C>A (p.Ser528Tyr)
2g.135817466A>CCA348605844LCTc.1582T>G (p.Ser528Ala)
2g.135817466A>GCA348605845LCTc.1582T>C (p.Ser528Pro)
2g.135817466A>TCA348605846LCTc.1582T>A (p.Ser528Thr)
2g.135817467G>ACA429204544LCTc.1581C>T (p.Phe527=)
2g.135817467G>CCA348605847LCTc.1581C>G (p.Phe527Leu)
2g.135817467G>TCA348605848LCTc.1581C>A (p.Phe527Leu)
2g.135817468A>CCA348605851LCTc.1580T>G (p.Phe527Cys)
2g.135817468A>GCA348605850LCTc.1580T>C (p.Phe527Ser)
2g.135817468A>TCA348605849LCTc.1580T>A (p.Phe527Tyr)
2g.135817469A>CCA348605852LCTc.1579T>G (p.Phe527Val)
2g.135817469A>GCA348605853LCTc.1579T>C (p.Phe527Leu)
2g.135817469A>TCA348605854LCTc.1579T>A (p.Phe527Ile)
2g.135817470G>ACA429204545LCTc.1578C>T (p.Cys526=)
dbSNP gnomAD v2 gnomAD v4
2g.135817470G>CCA348605855LCTc.1578C>G (p.Cys526Trp)
2g.135817470G=CA1290834796LCTc.1578C= (p.Cys526=)
2g.135817470G>TCA348605856LCTc.1578C>A (p.Cys526Ter)
2g.135817471C>ACA348605857LCTc.1577G>T (p.Cys526Phe)
2g.135817471C>GCA348605858LCTc.1577G>C (p.Cys526Ser)
2g.135817471C>TCA348605859LCTc.1577G>A (p.Cys526Tyr)
2g.135817472A>CCA348605860LCTc.1576T>G (p.Cys526Gly)
2g.135817472A>GCA348605861LCTc.1576T>C (p.Cys526Arg)
2g.135817472A>TCA348605862LCTc.1576T>A (p.Cys526Ser)

Number of alleles fetched