Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.135817308C>ACA2556649901LCTc.1707+33G>T (n.1707+33G>T)
2g.135817309C=CA1290834724LCTc.1707+32G= (n.1707+32G=)
2g.135817309C>TCA1290834725LCTc.1707+32G>A (n.1707+32G>A)
dbSNP gnomAD v4
2g.135817310A>CCA2661275744LCTc.1707+31T>G (n.1707+31T>G)
gnomAD v4
2g.135817311A=CA1290834726LCTc.1707+30T= (n.1707+30T=)
2g.135817311A>CCA2661275745LCTc.1707+30T>G (n.1707+30T>G)
gnomAD v4
2g.135817311A>GCA536547368LCTc.1707+30T>C (n.1707+30T>C)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.135817312T>GCA536547369LCTc.1707+29A>C (n.1707+29A>C)
dbSNP gnomAD v2 gnomAD v4
2g.135817312T=CA1290834727LCTc.1707+29A= (n.1707+29A=)
2g.135817313T>CCA536547370LCTc.1707+28A>G (n.1707+28A>G)
dbSNP gnomAD v2 gnomAD v4
2g.135817313T=CA1290834728LCTc.1707+28A= (n.1707+28A=)
2g.135817314A=CA1290834729LCTc.1707+27T= (n.1707+27T=)
2g.135817314A>CCA1888355LCTc.1707+27T>G (n.1707+27T>G)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.135817314A>TCA2661275746LCTc.1707+27T>A (n.1707+27T>A)
gnomAD v4
2g.135817315G>CCA1888356LCTc.1707+26C>G (n.1707+26C>G)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.135817315G=CA1290834730LCTc.1707+26C= (n.1707+26C=)
2g.135817317A=CA1290834731LCTc.1707+24T= (n.1707+24T=)
2g.135817317A>GCA1290834732LCTc.1707+24T>C (n.1707+24T>C)
dbSNP
2g.135817321G>CCA757437355LCTc.1707+20C>G (n.1707+20C>G)
ClinVar dbSNP gnomAD v3 gnomAD v4
2g.135817321G=CA1290834733LCTc.1707+20C= (n.1707+20C=)
2g.135817322C>ACA1888357LCTc.1707+19G>T (n.1707+19G>T)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.135817322C=CA1290834734LCTc.1707+19G= (n.1707+19G=)
2g.135817322C>TCA1036798866LCTc.1707+19G>A (n.1707+19G>A)
ClinVar dbSNP gnomAD v4
2g.135817323T>GCA2661275747LCTc.1707+18A>C (n.1707+18A>C)
gnomAD v4
2g.135817324G>CCA2577108012LCTc.1707+17C>G (n.1707+17C>G)
2g.135817324G=CA1290834735LCTc.1707+17C= (n.1707+17C=)
2g.135817324G>TCA536547371LCTc.1707+17C>A (n.1707+17C>A)
ClinVar dbSNP gnomAD v2 gnomAD v4
2g.135817325C=CA1290834736LCTc.1707+16G= (n.1707+16G=)
2g.135817325C>TCA1036798869LCTc.1707+16G>A (n.1707+16G>A)
dbSNP gnomAD v3 gnomAD v4
2g.135817326A=CA1290834737LCTc.1707+15T= (n.1707+15T=)
2g.135817326A>GCA1290834738LCTc.1707+15T>C (n.1707+15T>C)
dbSNP
2g.135817327G>ACA2661275748LCTc.1707+14C>T (n.1707+14C>T)
gnomAD v4
2g.135817327G>CCA1036798874LCTc.1707+14C>G (n.1707+14C>G)
dbSNP gnomAD v3 gnomAD v4
2g.135817327G=CA1290834739LCTc.1707+14C= (n.1707+14C=)
2g.135817328G>ACA56623329LCTc.1707+13C>T (n.1707+13C>T)
dbSNP gnomAD v4
2g.135817328G=CA1290834740LCTc.1707+13C= (n.1707+13C=)
2g.135817328G>TCA2661275749LCTc.1707+13C>A (n.1707+13C>A)
gnomAD v4
2g.135817329G>ACA2661275750LCTc.1707+12C>T (n.1707+12C>T)
gnomAD v4
2g.135817329G>TCA2661275751LCTc.1707+12C>A (n.1707+12C>A)
gnomAD v4
2g.135817330T>ACA2700693035LCTc.1707+11A>T (n.1707+11A>T)
dbSNP
2g.135817332G>ACA1888358LCTc.1707+9C>T (n.1707+9C>T)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.135817332G=CA1290834741LCTc.1707+9C= (n.1707+9C=)
2g.135817334delCA2577108013LCTc.1707+9del (n.1707+9del)
gnomAD v4
2g.135817334G>CCA2577108014LCTc.1707+7C>G (n.1707+7C>G)
gnomAD v4
2g.135817337G>ACA1888359LCTc.1707+4C>T (n.1707+4C>T)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.135817337G=CA1290834742LCTc.1707+4C= (n.1707+4C=)
2g.135817337G>TCA2550940002LCTc.1707+4C>A (n.1707+4C>A)
gnomAD v4
2g.135817338T>CCA645531703LCTc.1707+3A>G (n.1707+3A>G)
gnomAD v4 COSMIC
2g.135817339A>CCA348605560LCTc.1707+2T>G (n.1707+2T>G)
2g.135817339A>GCA348605561LCTc.1707+2T>C (n.1707+2T>C)
2g.135817339A>TCA348605562LCTc.1707+2T>A (n.1707+2T>A)
2g.135817340C>ACA348605563LCTc.1707+1G>T (n.1707+1G>T)
2g.135817340C=CA1290834743LCTc.1707+1G= (n.1707+1G=)
2g.135817340C>GCA348605565LCTc.1707+1G>C (n.1707+1G>C)
2g.135817340C>TCA348605564LCTc.1707+1G>A (n.1707+1G>A)
dbSNP gnomAD v3 gnomAD v4
2g.135817341C>ACA348605566LCTc.1707G>T (p.Lys569Asn)
2g.135817341C>GCA348605567LCTc.1707G>C (p.Lys569Asn)
2g.135817341C>TCA429204351LCTc.1707G>A (p.Lys569=)
2g.135817342T>ACA348605568LCTc.1706A>T (p.Lys569Met)
2g.135817342T>CCA348605569LCTc.1706A>G (p.Lys569Arg)
2g.135817342T>GCA348605570LCTc.1706A>C (p.Lys569Thr)
2g.135817343T>ACA348605571LCTc.1705A>T (p.Lys569Ter)
2g.135817343T>CCA348605572LCTc.1705A>G (p.Lys569Glu)
2g.135817343T>GCA348605573LCTc.1705A>C (p.Lys569Gln)
2g.135817344A>CCA348605574LCTc.1704T>G (p.Phe568Leu)
2g.135817344A>GCA429204356LCTc.1704T>C (p.Phe568=)
2g.135817344A>TCA348605575LCTc.1704T>A (p.Phe568Leu)
2g.135817345A>CCA348605578LCTc.1703T>G (p.Phe568Cys)
2g.135817345A>GCA348605577LCTc.1703T>C (p.Phe568Ser)
2g.135817345A>TCA348605576LCTc.1703T>A (p.Phe568Tyr)
2g.135817346A>CCA348605579LCTc.1702T>G (p.Phe568Val)
2g.135817346A>GCA348605580LCTc.1702T>C (p.Phe568Leu)
2g.135817346A>TCA348605581LCTc.1702T>A (p.Phe568Ile)
2g.135817347A>CCA429204467LCTc.1701T>G (p.Ser567=)
2g.135817347A>GCA429204468LCTc.1701T>C (p.Ser567=)
2g.135817347A>TCA429204469LCTc.1701T>A (p.Ser567=)
2g.135817348G>ACA348605582LCTc.1700C>T (p.Ser567Phe)
2g.135817348G>CCA348605583LCTc.1700C>G (p.Ser567Cys)
2g.135817348G>TCA348605584LCTc.1700C>A (p.Ser567Tyr)
2g.135817349A>CCA348605585LCTc.1699T>G (p.Ser567Ala)
2g.135817349A>GCA348605586LCTc.1699T>C (p.Ser567Pro)
2g.135817349A>TCA348605587LCTc.1699T>A (p.Ser567Thr)
2g.135817349_135817357delCA645531704LCTc.1691_1699del (p.Gly564_Ser567delinsAla)
COSMIC
2g.135817350G>ACA1888360LCTc.1698C>T (p.Ala566=)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.135817350G>CCA429204470LCTc.1698C>G (p.Ala566=)
2g.135817350G=CA1290834744LCTc.1698C= (p.Ala566=)
2g.135817350G>TCA429204471LCTc.1698C>A (p.Ala566=)
2g.135817351G>ACA348605588LCTc.1697C>T (p.Ala566Val)
2g.135817351G>CCA348605589LCTc.1697C>G (p.Ala566Gly)
2g.135817351G>TCA348605590LCTc.1697C>A (p.Ala566Asp)
2g.135817351_135817356delinsGCCACTCA1290834745LCTc.1692_1697delinsAGTGGC (p.Gly564=)
2g.135817352C>ACA348605593LCTc.1696G>T (p.Ala566Ser)
2g.135817352C=CA1290834746LCTc.1696G= (p.Ala566=)
2g.135817352C>GCA348605592LCTc.1696G>C (p.Ala566Pro)
2g.135817352C>TCA348605591LCTc.1696G>A (p.Ala566Thr)
dbSNP
2g.135817354_135817358delCA144312LCTc.1692_1696del (p.Val565LeufsTer3)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.135817353C>ACA429204472LCTc.1695G>T (p.Val565=)
2g.135817353C>GCA429204474LCTc.1695G>C (p.Val565=)
2g.135817353C>TCA429204473LCTc.1695G>A (p.Val565=)
2g.135817354A>CCA348605594LCTc.1694T>G (p.Val565Gly)
2g.135817354A>GCA348605595LCTc.1694T>C (p.Val565Ala)
gnomAD v4
2g.135817354A>TCA348605596LCTc.1694T>A (p.Val565Glu)
COSMIC
2g.135817355C>ACA348605597LCTc.1693G>T (p.Val565Leu)
2g.135817355C>GCA348605598LCTc.1693G>C (p.Val565Leu)
2g.135817355C>TCA348605599LCTc.1693G>A (p.Val565Met)
gnomAD v4
2g.135817356T>ACA429204475LCTc.1692A>T (p.Gly564=)
2g.135817356T>CCA1888361LCTc.1692A>G (p.Gly564=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.135817356T>GCA429204476LCTc.1692A>C (p.Gly564=)
2g.135817356T=CA1290834747LCTc.1692A= (p.Gly564=)
2g.135817357C>ACA348605600LCTc.1691G>T (p.Gly564Val)
2g.135817357C>GCA348605601LCTc.1691G>C (p.Gly564Ala)
2g.135817357C>TCA348605602LCTc.1691G>A (p.Gly564Glu)
2g.135817358C>ACA348605603LCTc.1690G>T (p.Gly564Ter)
2g.135817358C>GCA348605604LCTc.1690G>C (p.Gly564Arg)
gnomAD v4
2g.135817358C>TCA348605605LCTc.1690G>A (p.Gly564Arg)
2g.135817359T>ACA429204477LCTc.1689A>T (p.Pro563=)
2g.135817359T>CCA429204478LCTc.1689A>G (p.Pro563=)
ClinVar dbSNP gnomAD v3 gnomAD v4
2g.135817359T>GCA429204479LCTc.1689A>C (p.Pro563=)
2g.135817359T=CA1290834748LCTc.1689A= (p.Pro563=)
2g.135817360G>ACA348605606LCTc.1688C>T (p.Pro563Leu)
2g.135817360G>CCA348605608LCTc.1688C>G (p.Pro563Arg)
2g.135817360G>TCA348605607LCTc.1688C>A (p.Pro563Gln)
2g.135817361G>ACA348605609LCTc.1687C>T (p.Pro563Ser)
dbSNP gnomAD v2 gnomAD v4
2g.135817361G>CCA348605610LCTc.1687C>G (p.Pro563Ala)
2g.135817361G=CA1290834749LCTc.1687C= (p.Pro563=)
2g.135817361G>TCA348605611LCTc.1687C>A (p.Pro563Thr)
2g.135817362G>ACA429204480LCTc.1686C>T (p.Asp562=)
2g.135817362G>CCA348605612LCTc.1686C>G (p.Asp562Glu)
2g.135817362G>TCA348605613LCTc.1686C>A (p.Asp562Glu)
2g.135817363T>ACA348605616LCTc.1685A>T (p.Asp562Val)
2g.135817363T>CCA348605615LCTc.1685A>G (p.Asp562Gly)
2g.135817363T>GCA348605614LCTc.1685A>C (p.Asp562Ala)
2g.135817364C>ACA348605617LCTc.1684G>T (p.Asp562Tyr)
2g.135817364C>GCA348605618LCTc.1684G>C (p.Asp562His)
2g.135817364C>TCA348605619LCTc.1684G>A (p.Asp562Asn)
2g.135817365A=CA1290834750LCTc.1683T= (p.Ser561=)
2g.135817365A>CCA429204481LCTc.1683T>G (p.Ser561=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.135817365A>GCA429204482LCTc.1683T>C (p.Ser561=)
2g.135817365A>TCA429204483LCTc.1683T>A (p.Ser561=)
2g.135817366G>ACA348605620LCTc.1682C>T (p.Ser561Phe)
2g.135817366G>CCA348605621LCTc.1682C>G (p.Ser561Cys)
dbSNP gnomAD v4 COSMIC
2g.135817366G=CA1290834751LCTc.1682C= (p.Ser561=)
2g.135817366G>TCA348605622LCTc.1682C>A (p.Ser561Tyr)
2g.135817367A>CCA348605623LCTc.1681T>G (p.Ser561Ala)
2g.135817367A>GCA348605625LCTc.1681T>C (p.Ser561Pro)
2g.135817367A>TCA348605624LCTc.1681T>A (p.Ser561Thr)
2g.135817368G>ACA429204484LCTc.1680C>T (p.Ile560=)
2g.135817368G>CCA56623340LCTc.1680C>G (p.Ile560Met)
dbSNP gnomAD v4
2g.135817368G=CA1290834752LCTc.1680C= (p.Ile560=)
2g.135817368G>TCA429204485LCTc.1680C>A (p.Ile560=)
2g.135817369A>CCA348605626LCTc.1679T>G (p.Ile560Ser)
2g.135817369A>GCA348605627LCTc.1679T>C (p.Ile560Thr)
2g.135817369A>TCA348605628LCTc.1679T>A (p.Ile560Asn)
2g.135817370T>ACA348605629LCTc.1678A>T (p.Ile560Phe)
2g.135817370T>CCA348605630LCTc.1678A>G (p.Ile560Val)
dbSNP gnomAD v2 gnomAD v4
2g.135817370T>GCA348605631LCTc.1678A>C (p.Ile560Leu)
2g.135817370T=CA1290834753LCTc.1678A= (p.Ile560=)
2g.135817371G>ACA429204486LCTc.1677C>T (p.Gly559=)
2g.135817371G>CCA429204487LCTc.1677C>G (p.Gly559=)
gnomAD v4
2g.135817371G>TCA429204488LCTc.1677C>A (p.Gly559=)
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)

Number of alleles fetched