Chr Mutation (hg38) CAid Gene Transcript Linkouts
20g.18543099T>ACA408364110SEC23Bc.1592T>A (p.Leu531His)
c.1538T>A (p.Leu513His)
c.116T>A (p.Leu39His)
20g.18543099T>CCA408364112SEC23Bc.1592T>C (p.Leu531Pro)
c.1538T>C (p.Leu513Pro)
c.116T>C (p.Leu39Pro)
20g.18543099T>GCA408364111SEC23Bc.1592T>G (p.Leu531Arg)
c.1538T>G (p.Leu513Arg)
c.116T>G (p.Leu39Arg)
20g.18543100T>ACA509829323SEC23Bc.1593T>A (p.Leu531=)
c.1539T>A (p.Leu513=)
c.117T>A (p.Leu39=)
20g.18543100T>CCA509829326SEC23Bc.1593T>C (p.Leu531=)
c.1539T>C (p.Leu513=)
c.117T>C (p.Leu39=)
20g.18543100T>GCA509829325SEC23Bc.1593T>G (p.Leu531=)
c.1539T>G (p.Leu513=)
c.117T>G (p.Leu39=)
20g.18543101G>ACA408364113SEC23Bc.1594G>A (p.Gly532Arg)
c.1540G>A (p.Gly514Arg)
c.118G>A (p.Gly40Arg)
20g.18543101G>CCA408364114SEC23Bc.1594G>C (p.Gly532Arg)
c.1540G>C (p.Gly514Arg)
c.118G>C (p.Gly40Arg)
20g.18543101G>TCA408364115SEC23Bc.1594G>T (p.Gly532Trp)
c.1540G>T (p.Gly514Trp)
c.118G>T (p.Gly40Trp)
20g.18543102G>ACA408364116SEC23Bc.1595G>A (p.Gly532Glu)
c.1541G>A (p.Gly514Glu)
c.119G>A (p.Gly40Glu)
20g.18543102G>CCA9778415SEC23Bc.1595G>C (p.Gly532Ala)
c.1541G>C (p.Gly514Ala)
c.119G>C (p.Gly40Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.18543102G=CA2353564548SEC23Bc.1595G= (p.Gly532=)
c.1541G= (p.Gly514=)
c.119G= (p.Gly40=)
20g.18543102G>TCA408364117SEC23Bc.1595G>T (p.Gly532Val)
c.1541G>T (p.Gly514Val)
c.119G>T (p.Gly40Val)
20g.18543103G>ACA509829328SEC23Bc.1596G>A (p.Gly532=)
c.1542G>A (p.Gly514=)
c.120G>A (p.Gly40=)
20g.18543103G>CCA9778416SEC23Bc.1596G>C (p.Gly532=)
c.1542G>C (p.Gly514=)
c.120G>C (p.Gly40=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.18543103G=CA2353564549SEC23Bc.1596G= (p.Gly532=)
c.1542G= (p.Gly514=)
c.120G= (p.Gly40=)
20g.18543103G>TCA509829329SEC23Bc.1596G>T (p.Gly532=)
c.1542G>T (p.Gly514=)
c.120G>T (p.Gly40=)
20g.18543104G>ACA408364118SEC23Bc.1597G>A (p.Val533Met)
c.1543G>A (p.Val515Met)
c.121G>A (p.Val41Met)
20g.18543104G>CCA408364119SEC23Bc.1597G>C (p.Val533Leu)
c.1543G>C (p.Val515Leu)
c.121G>C (p.Val41Leu)
20g.18543104G>TCA408364120SEC23Bc.1597G>T (p.Val533Leu)
c.1543G>T (p.Val515Leu)
c.121G>T (p.Val41Leu)
20g.18543105T>ACA408364123SEC23Bc.1598T>A (p.Val533Glu)
c.1544T>A (p.Val515Glu)
c.122T>A (p.Val41Glu)
20g.18543105T>CCA408364122SEC23Bc.1598T>C (p.Val533Ala)
c.1544T>C (p.Val515Ala)
c.122T>C (p.Val41Ala)
20g.18543105T>GCA408364121SEC23Bc.1598T>G (p.Val533Gly)
c.1544T>G (p.Val515Gly)
c.122T>G (p.Val41Gly)
 dbSNP gnomAD v2
20g.18543105T=CA2353564550SEC23Bc.1598T= (p.Val533=)
c.1544T= (p.Val515=)
c.122T= (p.Val41=)
20g.18543106G>ACA509829332SEC23Bc.1599G>A (p.Val533=)
c.1545G>A (p.Val515=)
c.123G>A (p.Val41=)
 gnomAD v4
20g.18543106G>CCA509829333SEC23Bc.1599G>C (p.Val533=)
c.1545G>C (p.Val515=)
c.123G>C (p.Val41=)
20g.18543106G>TCA509829334SEC23Bc.1599G>T (p.Val533=)
c.1545G>T (p.Val515=)
c.123G>T (p.Val41=)
 gnomAD v4 COSMIC
20g.18543107T>ACA408364124SEC23Bc.1600T>A (p.Phe534Ile)
c.1546T>A (p.Phe516Ile)
c.124T>A (p.Phe42Ile)
20g.18543107T>CCA408364125SEC23Bc.1600T>C (p.Phe534Leu)
c.1546T>C (p.Phe516Leu)
c.124T>C (p.Phe42Leu)
 COSMIC
20g.18543107T>GCA408364126SEC23Bc.1600T>G (p.Phe534Val)
c.1546T>G (p.Phe516Val)
c.124T>G (p.Phe42Val)
20g.18543108T>ACA408364127SEC23Bc.1601T>A (p.Phe534Tyr)
c.1547T>A (p.Phe516Tyr)
c.125T>A (p.Phe42Tyr)
20g.18543108T>CCA408364128SEC23Bc.1601T>C (p.Phe534Ser)
c.1547T>C (p.Phe516Ser)
c.125T>C (p.Phe42Ser)
20g.18543108T>GCA408364129SEC23Bc.1601T>G (p.Phe534Cys)
c.1547T>G (p.Phe516Cys)
c.125T>G (p.Phe42Cys)
20g.18543109C>ACA408364130SEC23Bc.1602C>A (p.Phe534Leu)
c.1548C>A (p.Phe516Leu)
c.126C>A (p.Phe42Leu)
20g.18543109C=CA2353564551SEC23Bc.1602C= (p.Phe534=)
c.1548C= (p.Phe516=)
c.126C= (p.Phe42=)
20g.18543109C>GCA312406964SEC23Bc.1602C>G (p.Phe534Leu)
c.1548C>G (p.Phe516Leu)
c.126C>G (p.Phe42Leu)
 ClinVar dbSNP gnomAD v4
20g.18543109C>TCA509829336SEC23Bc.1602C>T (p.Phe534=)
c.1548C>T (p.Phe516=)
c.126C>T (p.Phe42=)
 dbSNP
20g.18543110delCA2695229331SEC23Bc.1603del (p.Arg535GlufsTer?)
c.1549del (p.Arg517GlufsTer?)
c.127del (p.Arg43GlufsTer?)
20g.18543110C>ACA509829337SEC23Bc.1603C>A (p.Arg535=)
c.1549C>A (p.Arg517=)
c.127C>A (p.Arg43=)
20g.18543110C=CA2353564552SEC23Bc.1603C= (p.Arg535=)
c.1549C= (p.Arg517=)
c.127C= (p.Arg43=)
20g.18543110C>GCA408364131SEC23Bc.1603C>G (p.Arg535Gly)
c.1549C>G (p.Arg517Gly)
c.127C>G (p.Arg43Gly)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.18543110C>TCA9778417SEC23Bc.1603C>T (p.Arg535Ter)
c.1549C>T (p.Arg517Ter)
c.127C>T (p.Arg43Ter)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.18543111G>ACA9778419SEC23Bc.1604G>A (p.Arg535Gln)
c.1550G>A (p.Arg517Gln)
c.128G>A (p.Arg43Gln)
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.18543111G>CCA408364132SEC23Bc.1604G>C (p.Arg535Pro)
c.1550G>C (p.Arg517Pro)
c.128G>C (p.Arg43Pro)
20g.18543111G=CA2353564553SEC23Bc.1604G= (p.Arg535=)
c.1550G= (p.Arg517=)
c.128G= (p.Arg43=)
20g.18543111G>TCA9778418SEC23Bc.1604G>T (p.Arg535Leu)
c.1550G>T (p.Arg517Leu)
c.128G>T (p.Arg43Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.18543112A>CCA509829340SEC23Bc.1605A>C (p.Arg535=)
c.1551A>C (p.Arg517=)
c.129A>C (p.Arg43=)
20g.18543112A>GCA509829341SEC23Bc.1605A>G (p.Arg535=)
c.1551A>G (p.Arg517=)
c.129A>G (p.Arg43=)
 gnomAD v4
20g.18543112A>TCA509829342SEC23Bc.1605A>T (p.Arg535=)
c.1551A>T (p.Arg517=)
c.129A>T (p.Arg43=)
20g.18543113G>ACA408364133SEC23Bc.1606G>A (p.Ala536Thr)
c.1552G>A (p.Ala518Thr)
c.130G>A (p.Ala44Thr)
 gnomAD v4
20g.18543113G>CCA408364134SEC23Bc.1606G>C (p.Ala536Pro)
c.1552G>C (p.Ala518Pro)
c.130G>C (p.Ala44Pro)
20g.18543113G>TCA408364135SEC23Bc.1606G>T (p.Ala536Ser)
c.1552G>T (p.Ala518Ser)
c.130G>T (p.Ala44Ser)
20g.18543114C>ACA9778420SEC23Bc.1607C>A (p.Ala536Glu)
c.1553C>A (p.Ala518Glu)
c.131C>A (p.Ala44Glu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.18543114C=CA2353564554SEC23Bc.1607C= (p.Ala536=)
c.1553C= (p.Ala518=)
c.131C= (p.Ala44=)
20g.18543114C>GCA9778422SEC23Bc.1607C>G (p.Ala536Gly)
c.1553C>G (p.Ala518Gly)
c.131C>G (p.Ala44Gly)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.18543114C>TCA9778421SEC23Bc.1607C>T (p.Ala536Val)
c.1553C>T (p.Ala518Val)
c.131C>T (p.Ala44Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
20g.18543115G>ACA9778423SEC23Bc.1608G>A (p.Ala536=)
c.1554G>A (p.Ala518=)
c.132G>A (p.Ala44=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.18543115G>CCA509829345SEC23Bc.1608G>C (p.Ala536=)
c.1554G>C (p.Ala518=)
c.132G>C (p.Ala44=)
20g.18543115G=CA2353564555SEC23Bc.1608G= (p.Ala536=)
c.1554G= (p.Ala518=)
c.132G= (p.Ala44=)
20g.18543115G>TCA509829346SEC23Bc.1608G>T (p.Ala536=)
c.1554G>T (p.Ala518=)
c.132G>T (p.Ala44=)
 gnomAD v4
20g.18543116G>ACA408364136SEC23Bc.1609G>A (p.Glu537Lys)
c.1555G>A (p.Glu519Lys)
c.133G>A (p.Glu45Lys)
20g.18543116G>CCA408364137SEC23Bc.1609G>C (p.Glu537Gln)
c.1555G>C (p.Glu519Gln)
c.133G>C (p.Glu45Gln)
20g.18543116G>TCA408364138SEC23Bc.1609G>T (p.Glu537Ter)
c.1555G>T (p.Glu519Ter)
c.133G>T (p.Glu45Ter)
20g.18543117A>CCA408364139SEC23Bc.1610A>C (p.Glu537Ala)
c.1556A>C (p.Glu519Ala)
c.134A>C (p.Glu45Ala)
20g.18543117A>GCA408364140SEC23Bc.1610A>G (p.Glu537Gly)
c.1556A>G (p.Glu519Gly)
c.134A>G (p.Glu45Gly)
20g.18543117A>TCA408364141SEC23Bc.1610A>T (p.Glu537Val)
c.1556A>T (p.Glu519Val)
c.134A>T (p.Glu45Val)
20g.18543118G>ACA509829349SEC23Bc.1611G>A (p.Glu537=)
c.1557G>A (p.Glu519=)
c.135G>A (p.Glu45=)
 ClinVar
20g.18543118G>CCA408364142SEC23Bc.1611G>C (p.Glu537Asp)
c.1557G>C (p.Glu519Asp)
c.135G>C (p.Glu45Asp)
20g.18543118G>TCA408364143SEC23Bc.1611G>T (p.Glu537Asp)
c.1557G>T (p.Glu519Asp)
c.135G>T (p.Glu45Asp)
20g.18543119T>ACA408364144SEC23Bc.1612T>A (p.Ser538Thr)
c.1558T>A (p.Ser520Thr)
c.136T>A (p.Ser46Thr)
20g.18543119T>CCA408364145SEC23Bc.1612T>C (p.Ser538Pro)
c.1558T>C (p.Ser520Pro)
c.136T>C (p.Ser46Pro)
20g.18543119T>GCA408364146SEC23Bc.1612T>G (p.Ser538Ala)
c.1558T>G (p.Ser520Ala)
c.136T>G (p.Ser46Ala)
 dbSNP
20g.18543119T=CA2353564556SEC23Bc.1612T= (p.Ser538=)
c.1558T= (p.Ser520=)
c.136T= (p.Ser46=)
20g.18543120C>ACA408364148SEC23Bc.1613C>A (p.Ser538Ter)
c.1559C>A (p.Ser520Ter)
c.137C>A (p.Ser46Ter)
20g.18543120C=CA2353564557SEC23Bc.1613C= (p.Ser538=)
c.1559C= (p.Ser520=)
c.137C= (p.Ser46=)
20g.18543120C>GCA408364147SEC23Bc.1613C>G (p.Ser538Ter)
c.1559C>G (p.Ser520Ter)
c.137C>G (p.Ser46Ter)
20g.18543120C>TCA9778424SEC23Bc.1613C>T (p.Ser538Leu)
c.1559C>T (p.Ser520Leu)
c.137C>T (p.Ser46Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.18543121A>CCA509829353SEC23Bc.1614A>C (p.Ser538=)
c.1560A>C (p.Ser520=)
c.138A>C (p.Ser46=)
20g.18543121A>GCA509829354SEC23Bc.1614A>G (p.Ser538=)
c.1560A>G (p.Ser520=)
c.138A>G (p.Ser46=)
20g.18543121A>TCA509829355SEC23Bc.1614A>T (p.Ser538=)
c.1560A>T (p.Ser520=)
c.138A>T (p.Ser46=)
20g.18543123_18543124delCA2577347663SEC23Bc.1616_1617del (p.Glu539GlyfsTer24)
c.1562_1563del (p.Glu521GlyfsTer24)
c.140_141del (p.Glu47GlyfsTer24)
20g.18543122G>ACA408364149SEC23Bc.1615G>A (p.Glu539Lys)
c.1561G>A (p.Glu521Lys)
c.139G>A (p.Glu47Lys)
20g.18543122G>CCA408364150SEC23Bc.1615G>C (p.Glu539Gln)
c.1561G>C (p.Glu521Gln)
c.139G>C (p.Glu47Gln)
20g.18543122G>TCA408364151SEC23Bc.1615G>T (p.Glu539Ter)
c.1561G>T (p.Glu521Ter)
c.139G>T (p.Glu47Ter)
20g.18543123A>CCA408364152SEC23Bc.1616A>C (p.Glu539Ala)
c.1562A>C (p.Glu521Ala)
c.140A>C (p.Glu47Ala)
20g.18543123A>GCA408364153SEC23Bc.1616A>G (p.Glu539Gly)
c.1562A>G (p.Glu521Gly)
c.140A>G (p.Glu47Gly)
20g.18543123A>TCA408364154SEC23Bc.1616A>T (p.Glu539Val)
c.1562A>T (p.Glu521Val)
c.140A>T (p.Glu47Val)
20g.18543124G>ACA509829359SEC23Bc.1617G>A (p.Glu539=)
c.1563G>A (p.Glu521=)
c.141G>A (p.Glu47=)
20g.18543124G>CCA408364155SEC23Bc.1617G>C (p.Glu539Asp)
c.1563G>C (p.Glu521Asp)
c.141G>C (p.Glu47Asp)
20g.18543124G>TCA408364156SEC23Bc.1617G>T (p.Glu539Asp)
c.1563G>T (p.Glu521Asp)
c.141G>T (p.Glu47Asp)
20g.18543125G>ACA312407001SEC23Bc.1618G>A (p.Glu540Lys)
c.1564G>A (p.Glu522Lys)
c.142G>A (p.Glu48Lys)
 dbSNP gnomAD v3 gnomAD v4
20g.18543125G>CCA408364157SEC23Bc.1618G>C (p.Glu540Gln)
c.1564G>C (p.Glu522Gln)
c.142G>C (p.Glu48Gln)
20g.18543125G=CA2353564558SEC23Bc.1618G= (p.Glu540=)
c.1564G= (p.Glu522=)
c.142G= (p.Glu48=)
20g.18543125G>TCA9778425SEC23Bc.1618G>T (p.Glu540Ter)
c.1564G>T (p.Glu522Ter)
c.142G>T (p.Glu48Ter)
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.18543126A>CCA408364158SEC23Bc.1619A>C (p.Glu540Ala)
c.1565A>C (p.Glu522Ala)
c.143A>C (p.Glu48Ala)
20g.18543126A>GCA408364159SEC23Bc.1619A>G (p.Glu540Gly)
c.1565A>G (p.Glu522Gly)
c.143A>G (p.Glu48Gly)
20g.18543126A>TCA408364160SEC23Bc.1619A>T (p.Glu540Val)
c.1565A>T (p.Glu522Val)
c.143A>T (p.Glu48Val)
20g.18543127G>ACA509829363SEC23Bc.1620G>A (p.Glu540=)
c.1566G>A (p.Glu522=)
c.144G>A (p.Glu48=)
 dbSNP gnomAD v3 gnomAD v4
20g.18543127G>CCA408364162SEC23Bc.1620G>C (p.Glu540Asp)
c.1566G>C (p.Glu522Asp)
c.144G>C (p.Glu48Asp)
20g.18543127G=CA2353564559SEC23Bc.1620G= (p.Glu540=)
c.1566G= (p.Glu522=)
c.144G= (p.Glu48=)
20g.18543127G>TCA408364161SEC23Bc.1620G>T (p.Glu540Asp)
c.1566G>T (p.Glu522Asp)
c.144G>T (p.Glu48Asp)
 gnomAD v4
20g.18543130dupCA2577347664SEC23Bc.1623dup (p.Pro542AlafsTer22)
c.1569dup (p.Pro524AlafsTer22)
c.147dup (p.Pro50AlafsTer22)
20g.18543128G>ACA408364163SEC23Bc.1621G>A (p.Gly541Arg)
c.1567G>A (p.Gly523Arg)
c.145G>A (p.Gly49Arg)
20g.18543128G>CCA408364164SEC23Bc.1621G>C (p.Gly541Arg)
c.1567G>C (p.Gly523Arg)
c.145G>C (p.Gly49Arg)
20g.18543128G>TCA408364165SEC23Bc.1621G>T (p.Gly541Trp)
c.1567G>T (p.Gly523Trp)
c.145G>T (p.Gly49Trp)
20g.18543129G>ACA408364166SEC23Bc.1622G>A (p.Gly541Glu)
c.1568G>A (p.Gly523Glu)
c.146G>A (p.Gly49Glu)
20g.18543129G>CCA408364167SEC23Bc.1622G>C (p.Gly541Ala)
c.1568G>C (p.Gly523Ala)
c.146G>C (p.Gly49Ala)
20g.18543129G>TCA408364168SEC23Bc.1622G>T (p.Gly541Val)
c.1568G>T (p.Gly523Val)
c.146G>T (p.Gly49Val)
 COSMIC
20g.18543130G>ACA509829367SEC23Bc.1623G>A (p.Gly541=)
c.1569G>A (p.Gly523=)
c.147G>A (p.Gly49=)
 gnomAD v4
20g.18543130G>CCA509829366SEC23Bc.1623G>C (p.Gly541=)
c.1569G>C (p.Gly523=)
c.147G>C (p.Gly49=)
20g.18543130G>TCA509829365SEC23Bc.1623G>T (p.Gly541=)
c.1569G>T (p.Gly523=)
c.147G>T (p.Gly49=)
 gnomAD v4
20g.18543131C>ACA408364169SEC23Bc.1624C>A (p.Pro542Thr)
c.1570C>A (p.Pro524Thr)
c.148C>A (p.Pro50Thr)
20g.18543131C>GCA408364170SEC23Bc.1624C>G (p.Pro542Ala)
c.1570C>G (p.Pro524Ala)
c.148C>G (p.Pro50Ala)
20g.18543131C>TCA408364171SEC23Bc.1624C>T (p.Pro542Ser)
c.1570C>T (p.Pro524Ser)
c.148C>T (p.Pro50Ser)
20g.18543133delCA645614622SEC23Bc.1626del (p.Asp543MetfsTer?)
c.1572del (p.Asp525MetfsTer?)
c.150del (p.Asp51MetfsTer?)
 COSMIC
20g.18543132C>ACA408364172SEC23Bc.1625C>A (p.Pro542His)
c.1571C>A (p.Pro524His)
c.149C>A (p.Pro50His)
20g.18543132C=CA2353564560SEC23Bc.1625C= (p.Pro542=)
c.1571C= (p.Pro524=)
c.149C= (p.Pro50=)
20g.18543132C>GCA408364173SEC23Bc.1625C>G (p.Pro542Arg)
c.1571C>G (p.Pro524Arg)
c.149C>G (p.Pro50Arg)
20g.18543132C>TCA408364174SEC23Bc.1625C>T (p.Pro542Leu)
c.1571C>T (p.Pro524Leu)
c.149C>T (p.Pro50Leu)
 dbSNP gnomAD v3 gnomAD v4
20g.18543133C>ACA509829372SEC23Bc.1626C>A (p.Pro542=)
c.1572C>A (p.Pro524=)
c.150C>A (p.Pro50=)
20g.18543133C=CA2353564561SEC23Bc.1626C= (p.Pro542=)
c.1572C= (p.Pro524=)
c.150C= (p.Pro50=)
20g.18543133C>GCA9778426SEC23Bc.1626C>G (p.Pro542=)
c.1572C>G (p.Pro524=)
c.150C>G (p.Pro50=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
20g.18543133C>TCA509829369SEC23Bc.1626C>T (p.Pro542=)
c.1572C>T (p.Pro524=)
c.150C>T (p.Pro50=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.18543134G>ACA9778427SEC23Bc.1627G>A (p.Asp543Asn)
c.1573G>A (p.Asp525Asn)
c.151G>A (p.Asp51Asn)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.18543134G>CCA408364175SEC23Bc.1627G>C (p.Asp543His)
c.1573G>C (p.Asp525His)
c.151G>C (p.Asp51His)
 gnomAD v4
20g.18543134G=CA2353564562SEC23Bc.1627G= (p.Asp543=)
c.1573G= (p.Asp525=)
c.151G= (p.Asp51=)
20g.18543134G>TCA408364176SEC23Bc.1627G>T (p.Asp543Tyr)
c.1573G>T (p.Asp525Tyr)
c.151G>T (p.Asp51Tyr)
 gnomAD v4
20g.18543135A>CCA408364177SEC23Bc.1628A>C (p.Asp543Ala)
c.1574A>C (p.Asp525Ala)
c.152A>C (p.Asp51Ala)
20g.18543135A>GCA408364178SEC23Bc.1628A>G (p.Asp543Gly)
c.1574A>G (p.Asp525Gly)
c.152A>G (p.Asp51Gly)
20g.18543135A>TCA408364179SEC23Bc.1628A>T (p.Asp543Val)
c.1574A>T (p.Asp525Val)
c.152A>T (p.Asp51Val)
20g.18543136T>ACA408364180SEC23Bc.1629T>A (p.Asp543Glu)
c.1575T>A (p.Asp525Glu)
c.153T>A (p.Asp51Glu)
20g.18543136T>CCA509829376SEC23Bc.1629T>C (p.Asp543=)
c.1575T>C (p.Asp525=)
c.153T>C (p.Asp51=)
 gnomAD v4
20g.18543136T>GCA408364181SEC23Bc.1629T>G (p.Asp543Glu)
c.1575T>G (p.Asp525Glu)
c.153T>G (p.Asp51Glu)
20g.18543137G>ACA408364182SEC23Bc.1630G>A (p.Val544Met)
c.1576G>A (p.Val526Met)
c.154G>A (p.Val52Met)
20g.18543137G>CCA408364183SEC23Bc.1630G>C (p.Val544Leu)
c.1576G>C (p.Val526Leu)
c.154G>C (p.Val52Leu)
20g.18543137G>TCA408364184SEC23Bc.1630G>T (p.Val544Leu)
c.1576G>T (p.Val526Leu)
c.154G>T (p.Val52Leu)
20g.18543138T>ACA408364185SEC23Bc.1631T>A (p.Val544Glu)
c.1577T>A (p.Val526Glu)
c.155T>A (p.Val52Glu)
20g.18543138T>CCA408364187SEC23Bc.1631T>C (p.Val544Ala)
c.1577T>C (p.Val526Ala)
c.155T>C (p.Val52Ala)
20g.18543138T>GCA408364186SEC23Bc.1631T>G (p.Val544Gly)
c.1577T>G (p.Val526Gly)
c.155T>G (p.Val52Gly)
20g.18543139G>ACA509829485SEC23Bc.1632G>A (p.Val544=)
c.1578G>A (p.Val526=)
c.156G>A (p.Val52=)
20g.18543139G>CCA9778428SEC23Bc.1632G>C (p.Val544=)
c.1578G>C (p.Val526=)
c.156G>C (p.Val52=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
20g.18543139G=CA2353564563SEC23Bc.1632G= (p.Val544=)
c.1578G= (p.Val526=)
c.156G= (p.Val52=)
20g.18543139G>TCA509829489SEC23Bc.1632G>T (p.Val544=)
c.1578G>T (p.Val526=)
c.156G>T (p.Val52=)
20g.18543140C>ACA408364188SEC23Bc.1633C>A (p.Leu545Ile)
c.1579C>A (p.Leu527Ile)
c.157C>A (p.Leu53Ile)
20g.18543140C>GCA408364189SEC23Bc.1633C>G (p.Leu545Val)
c.1579C>G (p.Leu527Val)
c.157C>G (p.Leu53Val)
20g.18543140C>TCA408364190SEC23Bc.1633C>T (p.Leu545Phe)
c.1579C>T (p.Leu527Phe)
c.157C>T (p.Leu53Phe)
20g.18543141T>ACA408364193SEC23Bc.1634T>A (p.Leu545His)
c.1580T>A (p.Leu527His)
c.158T>A (p.Leu53His)
20g.18543141T>CCA408364191SEC23Bc.1634T>C (p.Leu545Pro)
c.1580T>C (p.Leu527Pro)
c.158T>C (p.Leu53Pro)
20g.18543141T>GCA408364192SEC23Bc.1634T>G (p.Leu545Arg)
c.1580T>G (p.Leu527Arg)
c.158T>G (p.Leu53Arg)
20g.18543142C>ACA509829510SEC23Bc.1635C>A (p.Leu545=)
c.1581C>A (p.Leu527=)
c.159C>A (p.Leu53=)
20g.18543142C>GCA509829512SEC23Bc.1635C>G (p.Leu545=)
c.1581C>G (p.Leu527=)
c.159C>G (p.Leu53=)
 gnomAD v4
20g.18543142C>TCA509829514SEC23Bc.1635C>T (p.Leu545=)
c.1581C>T (p.Leu527=)
c.159C>T (p.Leu53=)
20g.18543143C>ACA509829516SEC23Bc.1636C>A (p.Arg546=)
c.1582C>A (p.Arg528=)
c.160C>A (p.Arg54=)
20g.18543143C=CA2353564564SEC23Bc.1636C= (p.Arg546=)
c.1582C= (p.Arg528=)
c.160C= (p.Arg54=)
20g.18543143C>GCA408364194SEC23Bc.1636C>G (p.Arg546Gly)
c.1582C>G (p.Arg528Gly)
c.160C>G (p.Arg54Gly)
20g.18543143C>TCA9778429SEC23Bc.1636C>T (p.Arg546Trp)
c.1582C>T (p.Arg528Trp)
c.160C>T (p.Arg54Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.18543144G>ACA9778430SEC23Bc.1637G>A (p.Arg546Gln)
c.1583G>A (p.Arg528Gln)
c.161G>A (p.Arg54Gln)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.18543144G>CCA408364195SEC23Bc.1637G>C (p.Arg546Pro)
c.1583G>C (p.Arg528Pro)
c.161G>C (p.Arg54Pro)
20g.18543144G=CA2353564565SEC23Bc.1637G= (p.Arg546=)
c.1583G= (p.Arg528=)
c.161G= (p.Arg54=)
20g.18543144G>TCA408364196SEC23Bc.1637G>T (p.Arg546Leu)
c.1583G>T (p.Arg528Leu)
c.161G>T (p.Arg54Leu)
 ClinVar gnomAD v4
20g.18543145G>ACA9778432SEC23Bc.1638G>A (p.Arg546=)
c.1584G>A (p.Arg528=)
c.162G>A (p.Arg54=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.18543145G>CCA9778431SEC23Bc.1638G>C (p.Arg546=)
c.1584G>C (p.Arg528=)
c.162G>C (p.Arg54=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.18543145G=CA2353564566SEC23Bc.1638G= (p.Arg546=)
c.1584G= (p.Arg528=)
c.162G= (p.Arg54=)
20g.18543145G>TCA509829529SEC23Bc.1638G>T (p.Arg546=)
c.1584G>T (p.Arg528=)
c.162G>T (p.Arg54=)
20g.18543146T>ACA408364197SEC23Bc.1639T>A (p.Trp547Arg)
c.1585T>A (p.Trp529Arg)
c.163T>A (p.Trp55Arg)
20g.18543146T>CCA408364198SEC23Bc.1639T>C (p.Trp547Arg)
c.1585T>C (p.Trp529Arg)
c.163T>C (p.Trp55Arg)
20g.18543146T>GCA408364199SEC23Bc.1639T>G (p.Trp547Gly)
c.1585T>G (p.Trp529Gly)
c.163T>G (p.Trp55Gly)
20g.18543147G>ACA408364200SEC23Bc.1640G>A (p.Trp547Ter)
c.1586G>A (p.Trp529Ter)
c.164G>A (p.Trp55Ter)
20g.18543147G>CCA408364201SEC23Bc.1640G>C (p.Trp547Ser)
c.1586G>C (p.Trp529Ser)
c.164G>C (p.Trp55Ser)
20g.18543147G>TCA408364202SEC23Bc.1640G>T (p.Trp547Leu)
c.1586G>T (p.Trp529Leu)
c.164G>T (p.Trp55Leu)
20g.18543148G>ACA9778433SEC23Bc.1641G>A (p.Trp547Ter)
c.1587G>A (p.Trp529Ter)
c.165G>A (p.Trp55Ter)
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.18543148G>CCA408364204SEC23Bc.1641G>C (p.Trp547Cys)
c.1587G>C (p.Trp529Cys)
c.165G>C (p.Trp55Cys)
20g.18543148G=CA2353564567SEC23Bc.1641G= (p.Trp547=)
c.1587G= (p.Trp529=)
c.165G= (p.Trp55=)
20g.18543148G>TCA408364203SEC23Bc.1641G>T (p.Trp547Cys)
c.1587G>T (p.Trp529Cys)
c.165G>T (p.Trp55Cys)
20g.18543149C>ACA408364205SEC23Bc.1642C>A (p.Leu548Met)
c.1588C>A (p.Leu530Met)
c.166C>A (p.Leu56Met)
 gnomAD v4
20g.18543149C>GCA408364206SEC23Bc.1642C>G (p.Leu548Val)
c.1588C>G (p.Leu530Val)
c.166C>G (p.Leu56Val)
 gnomAD v4
20g.18543149C>TCA509829544SEC23Bc.1642C>T (p.Leu548=)
c.1588C>T (p.Leu530=)
c.166C>T (p.Leu56=)
20g.18543150T>ACA408364207SEC23Bc.1643T>A (p.Leu548Gln)
c.1589T>A (p.Leu530Gln)
c.167T>A (p.Leu56Gln)
20g.18543150T>CCA408364208SEC23Bc.1643T>C (p.Leu548Pro)
c.1589T>C (p.Leu530Pro)
c.167T>C (p.Leu56Pro)
 gnomAD v4
20g.18543150T>GCA408364209SEC23Bc.1643T>G (p.Leu548Arg)
c.1589T>G (p.Leu530Arg)
c.167T>G (p.Leu56Arg)
20g.18543151G>ACA509829549SEC23Bc.1644G>A (p.Leu548=)
c.1590G>A (p.Leu530=)
c.168G>A (p.Leu56=)
20g.18543151G>CCA509829553SEC23Bc.1644G>C (p.Leu548=)
c.1590G>C (p.Leu530=)
c.168G>C (p.Leu56=)
20g.18543151G>TCA509829551SEC23Bc.1644G>T (p.Leu548=)
c.1590G>T (p.Leu530=)
c.168G>T (p.Leu56=)
20g.18543152_18543156dupCA2580611931SEC23Bc.1645_1649dup (p.Gln551ThrfsTer?)
c.1591_1595dup (p.Gln533ThrfsTer?)
c.169_173dup (p.Gln59ThrfsTer?)
20g.18543152G>ACA408364210SEC23Bc.1645G>A (p.Asp549Asn)
c.1591G>A (p.Asp531Asn)
c.169G>A (p.Asp57Asn)
20g.18543152G>CCA408364211SEC23Bc.1645G>C (p.Asp549His)
c.1591G>C (p.Asp531His)
c.169G>C (p.Asp57His)
20g.18543152G>TCA408364212SEC23Bc.1645G>T (p.Asp549Tyr)
c.1591G>T (p.Asp531Tyr)
c.169G>T (p.Asp57Tyr)
20g.18543152_18543159delinsGACCGACACA2353564568SEC23Bc.1645_1652delinsGACCGACA (p.Asp549=)
c.1591_1598delinsGACCGACA (p.Asp531=)
c.169_176delinsGACCGACA (p.Asp57=)
20g.18543153A>CCA408364213SEC23Bc.1646A>C (p.Asp549Ala)
c.1592A>C (p.Asp531Ala)
c.170A>C (p.Asp57Ala)
20g.18543153A>GCA408364214SEC23Bc.1646A>G (p.Asp549Gly)
c.1592A>G (p.Asp531Gly)
c.170A>G (p.Asp57Gly)
 gnomAD v4
20g.18543153A>TCA408364215SEC23Bc.1646A>T (p.Asp549Val)
c.1592A>T (p.Asp531Val)
c.170A>T (p.Asp57Val)
20g.18543155_18543161delCA9778434SEC23Bc.1648_1654del (p.Arg550SerfsTer?)
c.1594_1600del (p.Arg532SerfsTer?)
c.172_178del (p.Arg58SerfsTer?)
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.18543154C>ACA408364216SEC23Bc.1647C>A (p.Asp549Glu)
c.1593C>A (p.Asp531Glu)
c.171C>A (p.Asp57Glu)
20g.18543154C=CA2353564569SEC23Bc.1647C= (p.Asp549=)
c.1593C= (p.Asp531=)
c.171C= (p.Asp57=)
20g.18543154C>GCA408364217SEC23Bc.1647C>G (p.Asp549Glu)
c.1593C>G (p.Asp531Glu)
c.171C>G (p.Asp57Glu)
20g.18543154C>TCA509829569SEC23Bc.1647C>T (p.Asp549=)
c.1593C>T (p.Asp531=)
c.171C>T (p.Asp57=)
 dbSNP gnomAD v3 gnomAD v4 COSMIC
20g.18543155C>ACA509829571SEC23Bc.1648C>A (p.Arg550=)
c.1594C>A (p.Arg532=)
c.172C>A (p.Arg58=)
20g.18543155C=CA2353564570SEC23Bc.1648C= (p.Arg550=)
c.1594C= (p.Arg532=)
c.172C= (p.Arg58=)
20g.18543155C>GCA408364218SEC23Bc.1648C>G (p.Arg550Gly)
c.1594C>G (p.Arg532Gly)
c.172C>G (p.Arg58Gly)
 gnomAD v4
20g.18543155C>TCA234909SEC23Bc.1648C>T (p.Arg550Ter)
c.1594C>T (p.Arg532Ter)
c.172C>T (p.Arg58Ter)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.18543156G>ACA9778435SEC23Bc.1649G>A (p.Arg550Gln)
c.1595G>A (p.Arg532Gln)
c.173G>A (p.Arg58Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.18543156G>CCA408364219SEC23Bc.1649G>C (p.Arg550Pro)
c.1595G>C (p.Arg532Pro)
c.173G>C (p.Arg58Pro)
20g.18543156G=CA2353564571SEC23Bc.1649G= (p.Arg550=)
c.1595G= (p.Arg532=)
c.173G= (p.Arg58=)
20g.18543156G>TCA408364220SEC23Bc.1649G>T (p.Arg550Leu)
c.1595G>T (p.Arg532Leu)
c.173G>T (p.Arg58Leu)
20g.18543157A>CCA509829579SEC23Bc.1650A>C (p.Arg550=)
c.1596A>C (p.Arg532=)
c.174A>C (p.Arg58=)
 gnomAD v4
20g.18543157A>GCA509829583SEC23Bc.1650A>G (p.Arg550=)
c.1596A>G (p.Arg532=)
c.174A>G (p.Arg58=)
 gnomAD v4
20g.18543157A>TCA509829580SEC23Bc.1650A>T (p.Arg550=)
c.1596A>T (p.Arg532=)
c.174A>T (p.Arg58=)
20g.18543158C>ACA408364221SEC23Bc.1651C>A (p.Gln551Lys)
c.1597C>A (p.Gln533Lys)
c.175C>A (p.Gln59Lys)
20g.18543158C>GCA408364222SEC23Bc.1651C>G (p.Gln551Glu)
c.1597C>G (p.Gln533Glu)
c.175C>G (p.Gln59Glu)
20g.18543158C>TCA408364223SEC23Bc.1651C>T (p.Gln551Ter)
c.1597C>T (p.Gln533Ter)
c.175C>T (p.Gln59Ter)
 gnomAD v4
20g.18543159A>CCA408364224SEC23Bc.1652A>C (p.Gln551Pro)
c.1598A>C (p.Gln533Pro)
c.176A>C (p.Gln59Pro)
20g.18543159A>GCA408364225SEC23Bc.1652A>G (p.Gln551Arg)
c.1598A>G (p.Gln533Arg)
c.176A>G (p.Gln59Arg)
20g.18543159A>TCA408364226SEC23Bc.1652A>T (p.Gln551Leu)
c.1598A>T (p.Gln533Leu)
c.176A>T (p.Gln59Leu)
 COSMIC
20g.18543160A=CA2353564572SEC23Bc.1653A= (p.Gln551=)
c.1599A= (p.Gln533=)
c.177A= (p.Gln59=)
20g.18543160A>CCA408364227SEC23Bc.1653A>C (p.Gln551His)
c.1599A>C (p.Gln533His)
c.177A>C (p.Gln59His)
20g.18543160A>GCA509829598SEC23Bc.1653A>G (p.Gln551=)
c.1599A>G (p.Gln533=)
c.177A>G (p.Gln59=)
 ClinVar
20g.18543160A>TCA312407072SEC23Bc.1653A>T (p.Gln551His)
c.1599A>T (p.Gln533His)
c.177A>T (p.Gln59His)
 dbSNP gnomAD v4
20g.18543161C>ACA408364228SEC23Bc.1654C>A (p.Leu552Ile)
c.1600C>A (p.Leu534Ile)
c.178C>A (p.Leu60Ile)
20g.18543161C>GCA408364230SEC23Bc.1654C>G (p.Leu552Val)
c.1600C>G (p.Leu534Val)
c.178C>G (p.Leu60Val)
 gnomAD v4
20g.18543161C>TCA408364229SEC23Bc.1654C>T (p.Leu552Phe)
c.1600C>T (p.Leu534Phe)
c.178C>T (p.Leu60Phe)
 ClinVar gnomAD v4
20g.18543161_18543162delinsCTCA2353564573SEC23Bc.1654_1655delinsCT (p.Leu552=)
c.1600_1601delinsCT (p.Leu534=)
c.178_179delinsCT (p.Leu60=)
20g.18543162delCA9778436SEC23Bc.1655del (p.Leu552ProfsTer?)
c.1601del (p.Leu534ProfsTer?)
c.179del (p.Leu60ProfsTer?)
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.18543162T>ACA408364231SEC23Bc.1655T>A (p.Leu552His)
c.1601T>A (p.Leu534His)
c.179T>A (p.Leu60His)
20g.18543162T>CCA408364232SEC23Bc.1655T>C (p.Leu552Pro)
c.1601T>C (p.Leu534Pro)
c.179T>C (p.Leu60Pro)
20g.18543162T>GCA408364233SEC23Bc.1655T>G (p.Leu552Arg)
c.1601T>G (p.Leu534Arg)
c.179T>G (p.Leu60Arg)
20g.18543163C>ACA509829611SEC23Bc.1656C>A (p.Leu552=)
c.1602C>A (p.Leu534=)
c.180C>A (p.Leu60=)
 gnomAD v4
20g.18543163C=CA2353564574SEC23Bc.1656C= (p.Leu552=)
c.1602C= (p.Leu534=)
c.180C= (p.Leu60=)
20g.18543163C>GCA509829613SEC23Bc.1656C>G (p.Leu552=)
c.1602C>G (p.Leu534=)
c.180C>G (p.Leu60=)
20g.18543163C>TCA509829614SEC23Bc.1656C>T (p.Leu552=)
c.1602C>T (p.Leu534=)
c.180C>T (p.Leu60=)
 ClinVar dbSNP gnomAD v4
20g.18543164A>CCA408364236SEC23Bc.1657A>C (p.Ile553Leu)
c.1603A>C (p.Ile535Leu)
c.181A>C (p.Ile61Leu)
 gnomAD v4
20g.18543164A>GCA408364234SEC23Bc.1657A>G (p.Ile553Val)
c.1603A>G (p.Ile535Val)
c.181A>G (p.Ile61Val)
20g.18543164A>TCA408364235SEC23Bc.1657A>T (p.Ile553Phe)
c.1603A>T (p.Ile535Phe)
c.181A>T (p.Ile61Phe)
20g.18543165T>ACA408364237SEC23Bc.1658T>A (p.Ile553Asn)
c.1604T>A (p.Ile535Asn)
c.182T>A (p.Ile61Asn)
20g.18543165T>CCA408364238SEC23Bc.1658T>C (p.Ile553Thr)
c.1604T>C (p.Ile535Thr)
c.182T>C (p.Ile61Thr)
20g.18543165T>GCA408364239SEC23Bc.1658T>G (p.Ile553Ser)
c.1604T>G (p.Ile535Ser)
c.182T>G (p.Ile61Ser)
20g.18543165_18543166delinsTCCA2353564575SEC23Bc.1658_1659delinsTC (p.Ile553=)
c.1604_1605delinsTC (p.Ile535=)
c.182_183delinsTC (p.Ile61=)
20g.18543166C>ACA509829625SEC23Bc.1659C>A (p.Ile553=)
c.1605C>A (p.Ile535=)
c.183C>A (p.Ile61=)
20g.18543166C>GCA408364240SEC23Bc.1659C>G (p.Ile553Met)
c.1605C>G (p.Ile535Met)
c.183C>G (p.Ile61Met)
20g.18543166C>TCA509829629SEC23Bc.1659C>T (p.Ile553=)
c.1605C>T (p.Ile535=)
c.183C>T (p.Ile61=)
20g.18543167delCA9778437SEC23Bc.1660del (p.Arg554AspfsTer?)
c.1606del (p.Arg536AspfsTer?)
c.184del (p.Arg62AspfsTer?)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
20g.18543167C>ACA509829631SEC23Bc.1660C>A (p.Arg554=)
c.1606C>A (p.Arg536=)
c.184C>A (p.Arg62=)
 ClinVar
20g.18543167C=CA2353564576SEC23Bc.1660C= (p.Arg554=)
c.1606C= (p.Arg536=)
c.184C= (p.Arg62=)
20g.18543167C>GCA408364241SEC23Bc.1660C>G (p.Arg554Gly)
c.1606C>G (p.Arg536Gly)
c.184C>G (p.Arg62Gly)
20g.18543167C>TCA9778438SEC23Bc.1660C>T (p.Arg554Ter)
c.1606C>T (p.Arg536Ter)
c.184C>T (p.Arg62Ter)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
20g.18543168G>ACA9778439SEC23Bc.1661G>A (p.Arg554Gln)
c.1607G>A (p.Arg536Gln)
c.185G>A (p.Arg62Gln)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.18543168G>CCA408364242SEC23Bc.1661G>C (p.Arg554Pro)
c.1607G>C (p.Arg536Pro)
c.185G>C (p.Arg62Pro)
20g.18543168G=CA2353564577SEC23Bc.1661G= (p.Arg554=)
c.1607G= (p.Arg536=)
c.185G= (p.Arg62=)
20g.18543168G>TCA408364243SEC23Bc.1661G>T (p.Arg554Leu)
c.1607G>T (p.Arg536Leu)
c.185G>T (p.Arg62Leu)
20g.18543169A>CCA509829638SEC23Bc.1662A>C (p.Arg554=)
c.1608A>C (p.Arg536=)
c.186A>C (p.Arg62=)
20g.18543169A>GCA509829640SEC23Bc.1662A>G (p.Arg554=)
c.1608A>G (p.Arg536=)
c.186A>G (p.Arg62=)
20g.18543169A>TCA509829642SEC23Bc.1662A>T (p.Arg554=)
c.1608A>T (p.Arg536=)
c.186A>T (p.Arg62=)
20g.18543170C>ACA408364245SEC23Bc.1663C>A (p.Leu555Met)
c.1609C>A (p.Leu537Met)
c.187C>A (p.Leu63Met)
20g.18543170C>GCA408364244SEC23Bc.1663C>G (p.Leu555Val)
c.1609C>G (p.Leu537Val)
c.187C>G (p.Leu63Val)
 gnomAD v4
20g.18543170C>TCA509829645SEC23Bc.1663C>T (p.Leu555=)
c.1609C>T (p.Leu537=)
c.187C>T (p.Leu63=)
20g.18543171T>ACA408364246SEC23Bc.1664T>A (p.Leu555Gln)
c.1610T>A (p.Leu537Gln)
c.188T>A (p.Leu63Gln)
20g.18543171T>CCA408364247SEC23Bc.1664T>C (p.Leu555Pro)
c.1610T>C (p.Leu537Pro)
c.188T>C (p.Leu63Pro)
20g.18543171T>GCA408364248SEC23Bc.1664T>G (p.Leu555Arg)
c.1610T>G (p.Leu537Arg)
c.188T>G (p.Leu63Arg)
 dbSNP gnomAD v4
20g.18543171T=CA2353564578SEC23Bc.1664T= (p.Leu555=)
c.1610T= (p.Leu537=)
c.188T= (p.Leu63=)
20g.18543172G>ACA509829653SEC23Bc.1665G>A (p.Leu555=)
c.1611G>A (p.Leu537=)
c.189G>A (p.Leu63=)
20g.18543172G>CCA509829656SEC23Bc.1665G>C (p.Leu555=)
c.1611G>C (p.Leu537=)
c.189G>C (p.Leu63=)
20g.18543172G=CA2353564579SEC23Bc.1665G= (p.Leu555=)
c.1611G= (p.Leu537=)
c.189G= (p.Leu63=)
20g.18543172G>TCA509829655SEC23Bc.1665G>T (p.Leu555=)
c.1611G>T (p.Leu537=)
c.189G>T (p.Leu63=)
20g.18543172_18543173insACAATTCCAGAGTTACA2353564580SEC23Bc.1665_1665+1insACAATTCCAGAGTTA (n.1665_1665+1insACAATTCCAGAGTTA)
c.1611_1611+1insACAATTCCAGAGTTA (n.1611_1611+1insACAATTCCAGAGTTA)
c.189_189+1insACAATTCCAGAGTTA (n.189_189+1insACAATTCCAGAGTTA)
 dbSNP
20g.18543173G>ACA408364249SEC23Bc.1665+1G>A (n.1665+1G>A)
c.1611+1G>A (n.1611+1G>A)
c.189+1G>A (n.189+1G>A)
 COSMIC
20g.18543173G>CCA408364250SEC23Bc.1665+1G>C (n.1665+1G>C)
c.1611+1G>C (n.1611+1G>C)
c.189+1G>C (n.189+1G>C)
20g.18543173G>TCA408364251SEC23Bc.1665+1G>T (n.1665+1G>T)
c.1611+1G>T (n.1611+1G>T)
c.189+1G>T (n.189+1G>T)
20g.18543174T>ACA408364252SEC23Bc.1665+2T>A (n.1665+2T>A)
c.1611+2T>A (n.1611+2T>A)
c.189+2T>A (n.189+2T>A)
20g.18543174T>CCA408364253SEC23Bc.1665+2T>C (n.1665+2T>C)
c.1611+2T>C (n.1611+2T>C)
c.189+2T>C (n.189+2T>C)
20g.18543174T>GCA408364254SEC23Bc.1665+2T>G (n.1665+2T>G)
c.1611+2T>G (n.1611+2T>G)
c.189+2T>G (n.189+2T>G)
20g.18543176A>GCA2580097914SEC23Bc.1665+4A>G (n.1665+4A>G)
c.1611+4A>G (n.1611+4A>G)
c.189+4A>G (n.189+4A>G)
 ClinVar
20g.18543178T>ACA2652044058SEC23Bc.1665+6T>A (n.1665+6T>A)
c.1611+6T>A (n.1611+6T>A)
c.189+6T>A (n.189+6T>A)
 gnomAD v4
20g.18543178T>CCA9778440SEC23Bc.1665+6T>C (n.1665+6T>C)
c.1611+6T>C (n.1611+6T>C)
c.189+6T>C (n.189+6T>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.18543178T=CA2353564581SEC23Bc.1665+6T= (n.1665+6T=)
c.1611+6T= (n.1611+6T=)
c.189+6T= (n.189+6T=)
20g.18543180G>ACA2652044062SEC23Bc.1665+8G>A (n.1665+8G>A)
c.1611+8G>A (n.1611+8G>A)
c.189+8G>A (n.189+8G>A)
 gnomAD v4
20g.18543180G>TCA2652044063SEC23Bc.1665+8G>T (n.1665+8G>T)
c.1611+8G>T (n.1611+8G>T)
c.189+8G>T (n.189+8G>T)
 gnomAD v4
20g.18543182G>ACA2577347665SEC23Bc.1665+10G>A (n.1665+10G>A)
c.1611+10G>A (n.1611+10G>A)
c.189+10G>A (n.189+10G>A)
20g.18543182G>CCA2353564583SEC23Bc.1665+10G>C (n.1665+10G>C)
c.1611+10G>C (n.1611+10G>C)
c.189+10G>C (n.189+10G>C)
 dbSNP
20g.18543182G=CA2353564582SEC23Bc.1665+10G= (n.1665+10G=)
c.1611+10G= (n.1611+10G=)
c.189+10G= (n.189+10G=)
20g.18543182G>TCA2652044066SEC23Bc.1665+10G>T (n.1665+10G>T)
c.1611+10G>T (n.1611+10G>T)
c.189+10G>T (n.189+10G>T)
 gnomAD v4
20g.18543183G>ACA9778441SEC23Bc.1665+11G>A (n.1665+11G>A)
c.1611+11G>A (n.1611+11G>A)
c.189+11G>A (n.189+11G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.18543183G=CA2353564584SEC23Bc.1665+11G= (n.1665+11G=)
c.1611+11G= (n.1611+11G=)
c.189+11G= (n.189+11G=)
20g.18543184A=CA2353564585SEC23Bc.1665+12A= (n.1665+12A=)
c.1611+12A= (n.1611+12A=)
c.189+12A= (n.189+12A=)
20g.18543184A>CCA9778442SEC23Bc.1665+12A>C (n.1665+12A>C)
c.1611+12A>C (n.1611+12A>C)
c.189+12A>C (n.189+12A>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.18543185C>ACA2652044074SEC23Bc.1665+13C>A (n.1665+13C>A)
c.1611+13C>A (n.1611+13C>A)
c.189+13C>A (n.189+13C>A)
 gnomAD v4
20g.18543186A=CA2353564586SEC23Bc.1665+14A= (n.1665+14A=)
c.1611+14A= (n.1611+14A=)
c.189+14A= (n.189+14A=)
20g.18543186A>GCA312407094SEC23Bc.1665+14A>G (n.1665+14A>G)
c.1611+14A>G (n.1611+14A>G)
c.189+14A>G (n.189+14A>G)
 ClinVar dbSNP gnomAD v3 gnomAD v4
20g.18543187G>CCA9778443SEC23Bc.1665+15G>C (n.1665+15G>C)
c.1611+15G>C (n.1611+15G>C)
c.189+15G>C (n.189+15G>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.18543187G=CA2353564587SEC23Bc.1665+15G= (n.1665+15G=)
c.1611+15G= (n.1611+15G=)
c.189+15G= (n.189+15G=)
20g.18543189G>ACA741791215SEC23Bc.1665+17G>A (n.1665+17G>A)
c.1611+17G>A (n.1611+17G>A)
c.189+17G>A (n.189+17G>A)
 ClinVar dbSNP gnomAD v3 gnomAD v4
20g.18543189G=CA2353564588SEC23Bc.1665+17G= (n.1665+17G=)
c.1611+17G= (n.1611+17G=)
c.189+17G= (n.189+17G=)
20g.18543190G>ACA9778444SEC23Bc.1665+18G>A (n.1665+18G>A)
c.1611+18G>A (n.1611+18G>A)
c.189+18G>A (n.189+18G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.18543190G=CA2353564589SEC23Bc.1665+18G= (n.1665+18G=)
c.1611+18G= (n.1611+18G=)
c.189+18G= (n.189+18G=)
20g.18543191C=CA2353564590SEC23Bc.1665+19C= (n.1665+19C=)
c.1611+19C= (n.1611+19C=)
c.189+19C= (n.189+19C=)
20g.18543191C>GCA2652044082SEC23Bc.1665+19C>G (n.1665+19C>G)
c.1611+19C>G (n.1611+19C>G)
c.189+19C>G (n.189+19C>G)
 gnomAD v4
20g.18543191C>TCA312407125SEC23Bc.1665+19C>T (n.1665+19C>T)
c.1611+19C>T (n.1611+19C>T)
c.189+19C>T (n.189+19C>T)
 dbSNP
20g.18543192A=CA2353564591SEC23Bc.1665+20A= (n.1665+20A=)
c.1611+20A= (n.1611+20A=)
c.189+20A= (n.189+20A=)
20g.18543192A>TCA9778445SEC23Bc.1665+20A>T (n.1665+20A>T)
c.1611+20A>T (n.1611+20A>T)
c.189+20A>T (n.189+20A>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.18543193_18543194insGCTCA920176028SEC23Bc.1665+21_1665+22insGCT (n.1665+21_1665+22insGCT)
c.1611+21_1611+22insGCT (n.1611+21_1611+22insGCT)
c.189+21_189+22insGCT (n.189+21_189+22insGCT)
 dbSNP
20g.18543197G>ACA2652044084SEC23Bc.1665+25G>A (n.1665+25G>A)
c.1611+25G>A (n.1611+25G>A)
c.189+25G>A (n.189+25G>A)
 gnomAD v4
20g.18543197G>TCA2815455638SEC23Bc.1665+25G>T (n.1665+25G>T)
c.1611+25G>T (n.1611+25G>T)
c.189+25G>T (n.189+25G>T)
20g.18543198T>CCA2577347666SEC23Bc.1665+26T>C (n.1665+26T>C)
c.1611+26T>C (n.1611+26T>C)
c.189+26T>C (n.189+26T>C)
20g.18543198T>GCA9778446SEC23Bc.1665+26T>G (n.1665+26T>G)
c.1611+26T>G (n.1611+26T>G)
c.189+26T>G (n.189+26T>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.18543198T=CA2353564592SEC23Bc.1665+26T= (n.1665+26T=)
c.1611+26T= (n.1611+26T=)
c.189+26T= (n.189+26T=)

Number of alleles fetched