Chr Mutation (hg38) CAid Gene Transcript Linkouts
10g.49610879_49610888delinsAACATGCTGTCA1908792332CHAT,SLC18A3c.139_148delinsAACATGCTGT (p.Asn47=)
c.-69+1680_-69+1689delinsAACATGCTGT (n.-69+1680_-69+1689delinsAACATGCTGT)
10g.49610885_49610893delCA593780728CHAT,SLC18A3c.145_153del (p.Leu49_Met51del)
c.-69+1686_-69+1694del (n.-69+1686_-69+1694del)
 dbSNP gnomAD v2
10g.49610881C>ACA376716041CHAT,SLC18A3c.141C>A (p.Asn47Lys)
c.-69+1682C>A (n.-69+1682C>A)
10g.49610881C>GCA376716044CHAT,SLC18A3c.141C>G (p.Asn47Lys)
c.-69+1682C>G (n.-69+1682C>G)
10g.49610881C>TCA469790996CHAT,SLC18A3c.141C>T (p.Asn47=)
c.-69+1682C>T (n.-69+1682C>T)
10g.49610882A=CA1908792340CHAT,SLC18A3c.142A= (p.Met48=)
c.-69+1683A= (n.-69+1683A=)
10g.49610882A>CCA376716047CHAT,SLC18A3c.142A>C (p.Met48Leu)
c.-69+1683A>C (n.-69+1683A>C)
10g.49610882A>GCA206620775CHAT,SLC18A3c.142A>G (p.Met48Val)
c.-69+1683A>G (n.-69+1683A>G)
 dbSNP
10g.49610882A>TCA376716053CHAT,SLC18A3c.142A>T (p.Met48Leu)
c.-69+1683A>T (n.-69+1683A>T)
10g.49610883T>ACA376716056CHAT,SLC18A3c.143T>A (p.Met48Lys)
c.-69+1684T>A (n.-69+1684T>A)
10g.49610883T>CCA376716059CHAT,SLC18A3c.143T>C (p.Met48Thr)
c.-69+1684T>C (n.-69+1684T>C)
 gnomAD v4
10g.49610883T>GCA376716063CHAT,SLC18A3c.143T>G (p.Met48Arg)
c.-69+1684T>G (n.-69+1684T>G)
10g.49610884G>ACA376716073CHAT,SLC18A3c.144G>A (p.Met48Ile)
c.-69+1685G>A (n.-69+1685G>A)
10g.49610884G>CCA376716071CHAT,SLC18A3c.144G>C (p.Met48Ile)
c.-69+1685G>C (n.-69+1685G>C)
10g.49610884G>TCA376716067CHAT,SLC18A3c.144G>T (p.Met48Ile)
c.-69+1685G>T (n.-69+1685G>T)
10g.49610885C>ACA376716078CHAT,SLC18A3c.145C>A (p.Leu49Met)
c.-69+1686C>A (n.-69+1686C>A)
 gnomAD v4
10g.49610885C>GCA376716081CHAT,SLC18A3c.145C>G (p.Leu49Val)
c.-69+1686C>G (n.-69+1686C>G)
10g.49610885C>TCA469791001CHAT,SLC18A3c.145C>T (p.Leu49=)
c.-69+1686C>T (n.-69+1686C>T)
 gnomAD v4
10g.49610886T>ACA376716084CHAT,SLC18A3c.146T>A (p.Leu49Gln)
c.-69+1687T>A (n.-69+1687T>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.49610886T>CCA376716087CHAT,SLC18A3c.146T>C (p.Leu49Pro)
c.-69+1687T>C (n.-69+1687T>C)
10g.49610886T>GCA376716089CHAT,SLC18A3c.146T>G (p.Leu49Arg)
c.-69+1687T>G (n.-69+1687T>G)
10g.49610886T=CA1908792343CHAT,SLC18A3c.146T= (p.Leu49=)
c.-69+1687T= (n.-69+1687T=)
10g.49610887_49610888dupCA2787933732CHAT,SLC18A3c.147_148dup (p.Tyr50CysfsTer8)
c.-69+1688_-69+1689dup (n.-69+1688_-69+1689dup)
10g.49610887G>ACA5496696CHAT,SLC18A3c.147G>A (p.Leu49=)
c.-69+1688G>A (n.-69+1688G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.49610887G>CCA469791003CHAT,SLC18A3c.147G>C (p.Leu49=)
c.-69+1688G>C (n.-69+1688G>C)
 dbSNP gnomAD v2
10g.49610887G=CA1908792350CHAT,SLC18A3c.147G= (p.Leu49=)
c.-69+1688G= (n.-69+1688G=)
10g.49610887G>TCA469791002CHAT,SLC18A3c.147G>T (p.Leu49=)
c.-69+1688G>T (n.-69+1688G>T)
10g.49610888_49610889insCCAGTCA1908792349CHAT,SLC18A3c.148_149insCCAGT (p.Tyr50SerfsTer9)
c.-69+1689_-69+1690insCCAGT (n.-69+1689_-69+1690insCCAGT)
 dbSNP gnomAD v4
10g.49610888T>ACA376716100CHAT,SLC18A3c.148T>A (p.Tyr50Asn)
c.-69+1689T>A (n.-69+1689T>A)
10g.49610888T>CCA5496697CHAT,SLC18A3c.148T>C (p.Tyr50His)
c.-69+1689T>C (n.-69+1689T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.49610888T>GCA376716102CHAT,SLC18A3c.148T>G (p.Tyr50Asp)
c.-69+1689T>G (n.-69+1689T>G)
 dbSNP
10g.49610888T=CA1908792356CHAT,SLC18A3c.148T= (p.Tyr50=)
c.-69+1689T= (n.-69+1689T=)
10g.49610889A>CCA376716106CHAT,SLC18A3c.149A>C (p.Tyr50Ser)
c.-69+1690A>C (n.-69+1690A>C)
10g.49610889A>GCA376716109CHAT,SLC18A3c.149A>G (p.Tyr50Cys)
c.-69+1690A>G (n.-69+1690A>G)
10g.49610889A>TCA376716114CHAT,SLC18A3c.149A>T (p.Tyr50Phe)
c.-69+1690A>T (n.-69+1690A>T)
10g.49610890C>ACA376716120CHAT,SLC18A3c.150C>A (p.Tyr50Ter)
c.-69+1691C>A (n.-69+1691C>A)
10g.49610890C>GCA376716117CHAT,SLC18A3c.150C>G (p.Tyr50Ter)
c.-69+1691C>G (n.-69+1691C>G)
10g.49610890C>TCA469791005CHAT,SLC18A3c.150C>T (p.Tyr50=)
c.-69+1691C>T (n.-69+1691C>T)
10g.49610891A=CA1908792360CHAT,SLC18A3c.151A= (p.Met51=)
c.-69+1692A= (n.-69+1692A=)
10g.49610891A>CCA376716125CHAT,SLC18A3c.151A>C (p.Met51Leu)
c.-69+1692A>C (n.-69+1692A>C)
10g.49610891A>GCA206620784CHAT,SLC18A3c.151A>G (p.Met51Val)
c.-69+1692A>G (n.-69+1692A>G)
 ClinVar dbSNP gnomAD v3 gnomAD v4
10g.49610891A>TCA376716129CHAT,SLC18A3c.151A>T (p.Met51Leu)
c.-69+1692A>T (n.-69+1692A>T)
10g.49610892T>ACA376716133CHAT,SLC18A3c.152T>A (p.Met51Lys)
c.-69+1693T>A (n.-69+1693T>A)
 gnomAD v4
10g.49610892T>CCA376716136CHAT,SLC18A3c.152T>C (p.Met51Thr)
c.-69+1693T>C (n.-69+1693T>C)
 gnomAD v4
10g.49610892T>GCA376716140CHAT,SLC18A3c.152T>G (p.Met51Arg)
c.-69+1693T>G (n.-69+1693T>G)
10g.49610893G>ACA376716143CHAT,SLC18A3c.153G>A (p.Met51Ile)
c.-69+1694G>A (n.-69+1694G>A)
10g.49610893G>CCA376716146CHAT,SLC18A3c.153G>C (p.Met51Ile)
c.-69+1694G>C (n.-69+1694G>C)
10g.49610893G=CA1908792366CHAT,SLC18A3c.153G= (p.Met51=)
c.-69+1694G= (n.-69+1694G=)
10g.49610893G>TCA376716148CHAT,SLC18A3c.153G>T (p.Met51Ile)
c.-69+1694G>T (n.-69+1694G>T)
 dbSNP gnomAD v3 gnomAD v4
10g.49610894G>ACA376716154CHAT,SLC18A3c.154G>A (p.Val52Ile)
c.-69+1695G>A (n.-69+1695G>A)
10g.49610894G>CCA376716157CHAT,SLC18A3c.154G>C (p.Val52Leu)
c.-69+1695G>C (n.-69+1695G>C)
10g.49610894G>TCA376716160CHAT,SLC18A3c.154G>T (p.Val52Phe)
c.-69+1695G>T (n.-69+1695G>T)
10g.49610895T>ACA376716166CHAT,SLC18A3c.155T>A (p.Val52Asp)
c.-69+1696T>A (n.-69+1696T>A)
10g.49610895T>CCA5496698CHAT,SLC18A3c.155T>C (p.Val52Ala)
c.-69+1696T>C (n.-69+1696T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.49610895T>GCA376716165CHAT,SLC18A3c.155T>G (p.Val52Gly)
c.-69+1696T>G (n.-69+1696T>G)
10g.49610895T=CA1908792373CHAT,SLC18A3c.155T= (p.Val52=)
c.-69+1696T= (n.-69+1696T=)
10g.49610896C>ACA469791009CHAT,SLC18A3c.156C>A (p.Val52=)
c.-69+1697C>A (n.-69+1697C>A)
10g.49610896C>GCA469791008CHAT,SLC18A3c.156C>G (p.Val52=)
c.-69+1697C>G (n.-69+1697C>G)
10g.49610896C>TCA469791011CHAT,SLC18A3c.156C>T (p.Val52=)
c.-69+1697C>T (n.-69+1697C>T)
10g.49610897A=CA1908792378CHAT,SLC18A3c.157A= (p.Ile53=)
c.-69+1698A= (n.-69+1698A=)
10g.49610897A>CCA376716173CHAT,SLC18A3c.157A>C (p.Ile53Leu)
c.-69+1698A>C (n.-69+1698A>C)
 gnomAD v4
10g.49610897A>GCA376716175CHAT,SLC18A3c.157A>G (p.Ile53Val)
c.-69+1698A>G (n.-69+1698A>G)
 dbSNP
10g.49610897A>TCA376716176CHAT,SLC18A3c.157A>T (p.Ile53Phe)
c.-69+1698A>T (n.-69+1698A>T)
10g.49610898T>ACA376716180CHAT,SLC18A3c.158T>A (p.Ile53Asn)
c.-69+1699T>A (n.-69+1699T>A)
 gnomAD v4
10g.49610898T>CCA376716183CHAT,SLC18A3c.158T>C (p.Ile53Thr)
c.-69+1699T>C (n.-69+1699T>C)
10g.49610898T>GCA376716185CHAT,SLC18A3c.158T>G (p.Ile53Ser)
c.-69+1699T>G (n.-69+1699T>G)
10g.49610899C>ACA469791014CHAT,SLC18A3c.159C>A (p.Ile53=)
c.-69+1700C>A (n.-69+1700C>A)
10g.49610899C=CA1908792382CHAT,SLC18A3c.159C= (p.Ile53=)
c.-69+1700C= (n.-69+1700C=)
10g.49610899C>GCA5496699CHAT,SLC18A3c.159C>G (p.Ile53Met)
c.-69+1700C>G (n.-69+1700C>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.49610899C>TCA469791015CHAT,SLC18A3c.159C>T (p.Ile53=)
c.-69+1700C>T (n.-69+1700C>T)
 dbSNP gnomAD v2 gnomAD v4 COSMIC
10g.49610900G>ACA376716192CHAT,SLC18A3c.160G>A (p.Val54Met)
c.-69+1701G>A (n.-69+1701G>A)
 COSMIC
10g.49610900G>CCA376716195CHAT,SLC18A3c.160G>C (p.Val54Leu)
c.-69+1701G>C (n.-69+1701G>C)
 dbSNP gnomAD v2 gnomAD v4
10g.49610900G=CA1908792387CHAT,SLC18A3c.160G= (p.Val54=)
c.-69+1701G= (n.-69+1701G=)
10g.49610900G>TCA376716200CHAT,SLC18A3c.160G>T (p.Val54Leu)
c.-69+1701G>T (n.-69+1701G>T)
10g.49610901T>ACA376716201CHAT,SLC18A3c.161T>A (p.Val54Glu)
c.-69+1702T>A (n.-69+1702T>A)
10g.49610901T>CCA376716205CHAT,SLC18A3c.161T>C (p.Val54Ala)
c.-69+1702T>C (n.-69+1702T>C)
10g.49610901T>GCA376716209CHAT,SLC18A3c.161T>G (p.Val54Gly)
c.-69+1702T>G (n.-69+1702T>G)
10g.49610902G>ACA469791017CHAT,SLC18A3c.162G>A (p.Val54=)
c.-69+1703G>A (n.-69+1703G>A)
 dbSNP gnomAD v2 gnomAD v4
10g.49610902G>CCA469791019CHAT,SLC18A3c.162G>C (p.Val54=)
c.-69+1703G>C (n.-69+1703G>C)
10g.49610902G=CA1908792390CHAT,SLC18A3c.162G= (p.Val54=)
c.-69+1703G= (n.-69+1703G=)
10g.49610902G>TCA469791018CHAT,SLC18A3c.162G>T (p.Val54=)
c.-69+1703G>T (n.-69+1703G>T)
10g.49610903C>ACA376716216CHAT,SLC18A3c.163C>A (p.Pro55Thr)
c.-69+1704C>A (n.-69+1704C>A)
10g.49610903C=CA1908792393CHAT,SLC18A3c.163C= (p.Pro55=)
c.-69+1704C= (n.-69+1704C=)
10g.49610903C>GCA376716214CHAT,SLC18A3c.163C>G (p.Pro55Ala)
c.-69+1704C>G (n.-69+1704C>G)
10g.49610903C>TCA206620790CHAT,SLC18A3c.163C>T (p.Pro55Ser)
c.-69+1704C>T (n.-69+1704C>T)
 dbSNP gnomAD v3 gnomAD v4 COSMIC
10g.49610904C>ACA376716222CHAT,SLC18A3c.164C>A (p.Pro55His)
c.-69+1705C>A (n.-69+1705C>A)
10g.49610904C=CA1908792397CHAT,SLC18A3c.164C= (p.Pro55=)
c.-69+1705C= (n.-69+1705C=)
10g.49610904C>GCA376716229CHAT,SLC18A3c.164C>G (p.Pro55Arg)
c.-69+1705C>G (n.-69+1705C>G)
10g.49610904C>TCA376716226CHAT,SLC18A3c.164C>T (p.Pro55Leu)
c.-69+1705C>T (n.-69+1705C>T)
 dbSNP gnomAD v3 gnomAD v4
10g.49610905C>ACA469791024CHAT,SLC18A3c.165C>A (p.Pro55=)
c.-69+1706C>A (n.-69+1706C>A)
 dbSNP gnomAD v2 gnomAD v4
10g.49610905C=CA1908792398CHAT,SLC18A3c.165C= (p.Pro55=)
c.-69+1706C= (n.-69+1706C=)
10g.49610905C>GCA469791023CHAT,SLC18A3c.165C>G (p.Pro55=)
c.-69+1706C>G (n.-69+1706C>G)
10g.49610905C>TCA469791021CHAT,SLC18A3c.165C>T (p.Pro55=)
c.-69+1706C>T (n.-69+1706C>T)
 gnomAD v4
10g.49610906A=CA1908792399CHAT,SLC18A3c.166A= (p.Ile56=)
c.-69+1707A= (n.-69+1707A=)
10g.49610906A>CCA376716232CHAT,SLC18A3c.166A>C (p.Ile56Leu)
c.-69+1707A>C (n.-69+1707A>C)
10g.49610906A>GCA5496700CHAT,SLC18A3c.166A>G (p.Ile56Val)
c.-69+1707A>G (n.-69+1707A>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.49610906A>TCA376716235CHAT,SLC18A3c.166A>T (p.Ile56Leu)
c.-69+1707A>T (n.-69+1707A>T)
10g.49610907T>ACA376716240CHAT,SLC18A3c.167T>A (p.Ile56Lys)
c.-69+1708T>A (n.-69+1708T>A)
10g.49610907T>CCA206620796CHAT,SLC18A3c.167T>C (p.Ile56Thr)
c.-69+1708T>C (n.-69+1708T>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.49610907T>GCA376716243CHAT,SLC18A3c.167T>G (p.Ile56Arg)
c.-69+1708T>G (n.-69+1708T>G)
10g.49610907T=CA1908792402CHAT,SLC18A3c.167T= (p.Ile56=)
c.-69+1708T= (n.-69+1708T=)
10g.49610908A>CCA469791027CHAT,SLC18A3c.168A>C (p.Ile56=)
c.-69+1709A>C (n.-69+1709A>C)
10g.49610908A>GCA376716250CHAT,SLC18A3c.168A>G (p.Ile56Met)
c.-69+1709A>G (n.-69+1709A>G)
10g.49610908A>TCA469791026CHAT,SLC18A3c.168A>T (p.Ile56=)
c.-69+1709A>T (n.-69+1709A>T)
 gnomAD v4
10g.49610909G>ACA376716257CHAT,SLC18A3c.169G>A (p.Val57Met)
c.-69+1710G>A (n.-69+1710G>A)
10g.49610909G>CCA376716254CHAT,SLC18A3c.169G>C (p.Val57Leu)
c.-69+1710G>C (n.-69+1710G>C)
10g.49610909G>TCA376716260CHAT,SLC18A3c.169G>T (p.Val57Leu)
c.-69+1710G>T (n.-69+1710G>T)
10g.49610910T>ACA376716263CHAT,SLC18A3c.170T>A (p.Val57Glu)
c.-69+1711T>A (n.-69+1711T>A)
10g.49610910T>CCA376716269CHAT,SLC18A3c.170T>C (p.Val57Ala)
c.-69+1711T>C (n.-69+1711T>C)
10g.49610910T>GCA376716266CHAT,SLC18A3c.170T>G (p.Val57Gly)
c.-69+1711T>G (n.-69+1711T>G)
10g.49610911G>ACA469791031CHAT,SLC18A3c.171G>A (p.Val57=)
c.-69+1712G>A (n.-69+1712G>A)
 dbSNP gnomAD v4
10g.49610911G>CCA469791030CHAT,SLC18A3c.171G>C (p.Val57=)
c.-69+1712G>C (n.-69+1712G>C)
10g.49610911G=CA1908792407CHAT,SLC18A3c.171G= (p.Val57=)
c.-69+1712G= (n.-69+1712G=)
10g.49610911G>TCA469791029CHAT,SLC18A3c.171G>T (p.Val57=)
c.-69+1712G>T (n.-69+1712G>T)
10g.49610912C>ACA376716276CHAT,SLC18A3c.172C>A (p.Pro58Thr)
c.-69+1713C>A (n.-69+1713C>A)
10g.49610912C=CA1908792412CHAT,SLC18A3c.172C= (p.Pro58=)
c.-69+1713C= (n.-69+1713C=)
10g.49610912C>GCA376716278CHAT,SLC18A3c.172C>G (p.Pro58Ala)
c.-69+1713C>G (n.-69+1713C>G)
10g.49610912C>TCA376716281CHAT,SLC18A3c.172C>T (p.Pro58Ser)
c.-69+1713C>T (n.-69+1713C>T)
 dbSNP gnomAD v2
10g.49610913C>ACA376716286CHAT,SLC18A3c.173C>A (p.Pro58His)
c.-69+1714C>A (n.-69+1714C>A)
10g.49610913C>GCA376716288CHAT,SLC18A3c.173C>G (p.Pro58Arg)
c.-69+1714C>G (n.-69+1714C>G)
10g.49610913C>TCA376716291CHAT,SLC18A3c.173C>T (p.Pro58Leu)
c.-69+1714C>T (n.-69+1714C>T)
 gnomAD v4
10g.49610914C>ACA469791032CHAT,SLC18A3c.174C>A (p.Pro58=)
c.-69+1715C>A (n.-69+1715C>A)
10g.49610914C=CA1908792416CHAT,SLC18A3c.174C= (p.Pro58=)
c.-69+1715C= (n.-69+1715C=)
10g.49610914C>GCA469791033CHAT,SLC18A3c.174C>G (p.Pro58=)
c.-69+1715C>G (n.-69+1715C>G)
 dbSNP gnomAD v4
10g.49610914C>TCA5496701CHAT,SLC18A3c.174C>T (p.Pro58=)
c.-69+1715C>T (n.-69+1715C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.49610915G>ACA206620801CHAT,SLC18A3c.175G>A (p.Asp59Asn)
c.-69+1716G>A (n.-69+1716G>A)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.49610915G>CCA376716300CHAT,SLC18A3c.175G>C (p.Asp59His)
c.-69+1716G>C (n.-69+1716G>C)
10g.49610915G=CA1908792422CHAT,SLC18A3c.175G= (p.Asp59=)
c.-69+1716G= (n.-69+1716G=)
10g.49610915G>TCA376716302CHAT,SLC18A3c.175G>T (p.Asp59Tyr)
c.-69+1716G>T (n.-69+1716G>T)
10g.49610916A>CCA376716313CHAT,SLC18A3c.176A>C (p.Asp59Ala)
c.-69+1717A>C (n.-69+1717A>C)
10g.49610916A>GCA376716308CHAT,SLC18A3c.176A>G (p.Asp59Gly)
c.-69+1717A>G (n.-69+1717A>G)
10g.49610916A>TCA376716310CHAT,SLC18A3c.176A>T (p.Asp59Val)
c.-69+1717A>T (n.-69+1717A>T)
10g.49610917C>ACA376716317CHAT,SLC18A3c.177C>A (p.Asp59Glu)
c.-69+1718C>A (n.-69+1718C>A)
10g.49610917C=CA1908792427CHAT,SLC18A3c.177C= (p.Asp59=)
c.-69+1718C= (n.-69+1718C=)
10g.49610917C>GCA376716322CHAT,SLC18A3c.177C>G (p.Asp59Glu)
c.-69+1718C>G (n.-69+1718C>G)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.49610917C>TCA469791034CHAT,SLC18A3c.177C>T (p.Asp59=)
c.-69+1718C>T (n.-69+1718C>T)
 dbSNP
10g.49610918T>ACA376716326CHAT,SLC18A3c.178T>A (p.Tyr60Asn)
c.-69+1719T>A (n.-69+1719T>A)
10g.49610918T>CCA376716328CHAT,SLC18A3c.178T>C (p.Tyr60His)
c.-69+1719T>C (n.-69+1719T>C)
 dbSNP gnomAD v2 gnomAD v4
10g.49610918T>GCA376716330CHAT,SLC18A3c.178T>G (p.Tyr60Asp)
c.-69+1719T>G (n.-69+1719T>G)
10g.49610918T=CA1908792432CHAT,SLC18A3c.178T= (p.Tyr60=)
c.-69+1719T= (n.-69+1719T=)
10g.49610919A>CCA376716335CHAT,SLC18A3c.179A>C (p.Tyr60Ser)
c.-69+1720A>C (n.-69+1720A>C)
10g.49610919A>GCA376716337CHAT,SLC18A3c.179A>G (p.Tyr60Cys)
c.-69+1720A>G (n.-69+1720A>G)
10g.49610919A>TCA376716338CHAT,SLC18A3c.179A>T (p.Tyr60Phe)
c.-69+1720A>T (n.-69+1720A>T)
10g.49610920C>ACA376716343CHAT,SLC18A3c.180C>A (p.Tyr60Ter)
c.-69+1721C>A (n.-69+1721C>A)
 gnomAD v4
10g.49610920C>GCA376716345CHAT,SLC18A3c.180C>G (p.Tyr60Ter)
c.-69+1721C>G (n.-69+1721C>G)
10g.49610920C>TCA469791035CHAT,SLC18A3c.180C>T (p.Tyr60=)
c.-69+1721C>T (n.-69+1721C>T)
 gnomAD v4
10g.49610921A=CA1908792435CHAT,SLC18A3c.181A= (p.Ile61=)
c.-69+1722A= (n.-69+1722A=)
10g.49610921A>CCA376716352CHAT,SLC18A3c.181A>C (p.Ile61Leu)
c.-69+1722A>C (n.-69+1722A>C)
10g.49610921A>GCA5496702CHAT,SLC18A3c.181A>G (p.Ile61Val)
c.-69+1722A>G (n.-69+1722A>G)
 dbSNP ExAC gnomAD v2
10g.49610921A>TCA376716348CHAT,SLC18A3c.181A>T (p.Ile61Phe)
c.-69+1722A>T (n.-69+1722A>T)
10g.49610922T>ACA376716358CHAT,SLC18A3c.182T>A (p.Ile61Asn)
c.-69+1723T>A (n.-69+1723T>A)
10g.49610922T>CCA376716362CHAT,SLC18A3c.182T>C (p.Ile61Thr)
c.-69+1723T>C (n.-69+1723T>C)
10g.49610922T>GCA376716365CHAT,SLC18A3c.182T>G (p.Ile61Ser)
c.-69+1723T>G (n.-69+1723T>G)
10g.49610923C>ACA469791037CHAT,SLC18A3c.183C>A (p.Ile61=)
c.-69+1724C>A (n.-69+1724C>A)
 gnomAD v3 gnomAD v4
10g.49610923C=CA1908792439CHAT,SLC18A3c.183C= (p.Ile61=)
c.-69+1724C= (n.-69+1724C=)
10g.49610923C>GCA5496703CHAT,SLC18A3c.183C>G (p.Ile61Met)
c.-69+1724C>G (n.-69+1724C>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.49610923C>TCA469791036CHAT,SLC18A3c.183C>T (p.Ile61=)
c.-69+1724C>T (n.-69+1724C>T)
 ClinVar dbSNP gnomAD v4
10g.49610924G>ACA376716371CHAT,SLC18A3c.184G>A (p.Ala62Thr)
c.-69+1725G>A (n.-69+1725G>A)
 dbSNP gnomAD v4 COSMIC
10g.49610924G>CCA376716375CHAT,SLC18A3c.184G>C (p.Ala62Pro)
c.-69+1725G>C (n.-69+1725G>C)
 gnomAD v4
10g.49610924G=CA1908792442CHAT,SLC18A3c.184G= (p.Ala62=)
c.-69+1725G= (n.-69+1725G=)
10g.49610924G>TCA376716378CHAT,SLC18A3c.184G>T (p.Ala62Ser)
c.-69+1725G>T (n.-69+1725G>T)
 gnomAD v4
10g.49610925C>ACA376716381CHAT,SLC18A3c.185C>A (p.Ala62Asp)
c.-69+1726C>A (n.-69+1726C>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.49610925C=CA1908792447CHAT,SLC18A3c.185C= (p.Ala62=)
c.-69+1726C= (n.-69+1726C=)
10g.49610925C>GCA376716384CHAT,SLC18A3c.185C>G (p.Ala62Gly)
c.-69+1726C>G (n.-69+1726C>G)
10g.49610925C>TCA376716387CHAT,SLC18A3c.185C>T (p.Ala62Val)
c.-69+1726C>T (n.-69+1726C>T)
 dbSNP gnomAD v4
10g.49610926C>ACA469791038CHAT,SLC18A3c.186C>A (p.Ala62=)
c.-69+1727C>A (n.-69+1727C>A)
10g.49610926C=CA1908792450CHAT,SLC18A3c.186C= (p.Ala62=)
c.-69+1727C= (n.-69+1727C=)
10g.49610926C>GCA5496704CHAT,SLC18A3c.186C>G (p.Ala62=)
c.-69+1727C>G (n.-69+1727C>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.49610926C>TCA469791039CHAT,SLC18A3c.186C>T (p.Ala62=)
c.-69+1727C>T (n.-69+1727C>T)
 dbSNP gnomAD v2 gnomAD v4
10g.49610927C>ACA376716393CHAT,SLC18A3c.187C>A (p.His63Asn)
c.-69+1728C>A (n.-69+1728C>A)
 gnomAD v4
10g.49610927C>GCA376716396CHAT,SLC18A3c.187C>G (p.His63Asp)
c.-69+1728C>G (n.-69+1728C>G)
10g.49610927C>TCA376716391CHAT,SLC18A3c.187C>T (p.His63Tyr)
c.-69+1728C>T (n.-69+1728C>T)
10g.49610928A=CA1908792454CHAT,SLC18A3c.188A= (p.His63=)
c.-69+1729A= (n.-69+1729A=)
10g.49610928A>CCA376716400CHAT,SLC18A3c.188A>C (p.His63Pro)
c.-69+1729A>C (n.-69+1729A>C)
10g.49610928A>GCA376716403CHAT,SLC18A3c.188A>G (p.His63Arg)
c.-69+1729A>G (n.-69+1729A>G)
10g.49610928A>TCA376716405CHAT,SLC18A3c.188A>T (p.His63Leu)
c.-69+1729A>T (n.-69+1729A>T)
 dbSNP gnomAD v4
10g.49610929C>ACA376716410CHAT,SLC18A3c.189C>A (p.His63Gln)
c.-69+1730C>A (n.-69+1730C>A)
10g.49610929C>GCA376716413CHAT,SLC18A3c.189C>G (p.His63Gln)
c.-69+1730C>G (n.-69+1730C>G)
10g.49610929C>TCA469791043CHAT,SLC18A3c.189C>T (p.His63=)
c.-69+1730C>T (n.-69+1730C>T)
 gnomAD v4
10g.49610930A>CCA376716423CHAT,SLC18A3c.190A>C (p.Met64Leu)
c.-69+1731A>C (n.-69+1731A>C)
10g.49610930A>GCA376716416CHAT,SLC18A3c.190A>G (p.Met64Val)
c.-69+1731A>G (n.-69+1731A>G)
 gnomAD v4
10g.49610930A>TCA376716420CHAT,SLC18A3c.190A>T (p.Met64Leu)
c.-69+1731A>T (n.-69+1731A>T)
10g.49610931T>ACA376716426CHAT,SLC18A3c.191T>A (p.Met64Lys)
c.-69+1732T>A (n.-69+1732T>A)
10g.49610931T>CCA376716429CHAT,SLC18A3c.191T>C (p.Met64Thr)
c.-69+1732T>C (n.-69+1732T>C)
10g.49610931T>GCA376716431CHAT,SLC18A3c.191T>G (p.Met64Arg)
c.-69+1732T>G (n.-69+1732T>G)
10g.49610932G>ACA376716437CHAT,SLC18A3c.192G>A (p.Met64Ile)
c.-69+1733G>A (n.-69+1733G>A)
10g.49610932G>CCA376716441CHAT,SLC18A3c.192G>C (p.Met64Ile)
c.-69+1733G>C (n.-69+1733G>C)
10g.49610932G>TCA376716442CHAT,SLC18A3c.192G>T (p.Met64Ile)
c.-69+1733G>T (n.-69+1733G>T)
10g.49610933C>ACA376716449CHAT,SLC18A3c.193C>A (p.Arg65Ser)
c.-69+1734C>A (n.-69+1734C>A)
 gnomAD v4
10g.49610933C=CA1908792460CHAT,SLC18A3c.193C= (p.Arg65=)
c.-69+1734C= (n.-69+1734C=)
10g.49610933C>GCA5496705CHAT,SLC18A3c.193C>G (p.Arg65Gly)
c.-69+1734C>G (n.-69+1734C>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
10g.49610933C>TCA376716446CHAT,SLC18A3c.193C>T (p.Arg65Cys)
c.-69+1734C>T (n.-69+1734C>T)
 dbSNP gnomAD v2
10g.49610934G>ACA376716457CHAT,SLC18A3c.194G>A (p.Arg65His)
c.-69+1735G>A (n.-69+1735G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.49610934G>CCA376716459CHAT,SLC18A3c.194G>C (p.Arg65Pro)
c.-69+1735G>C (n.-69+1735G>C)
10g.49610934G=CA1908792466CHAT,SLC18A3c.194G= (p.Arg65=)
c.-69+1735G= (n.-69+1735G=)
10g.49610934G>TCA376716461CHAT,SLC18A3c.194G>T (p.Arg65Leu)
c.-69+1735G>T (n.-69+1735G>T)
 gnomAD v4
10g.49610935C>ACA469791048CHAT,SLC18A3c.195C>A (p.Arg65=)
c.-69+1736C>A (n.-69+1736C>A)
10g.49610935C=CA1908792468CHAT,SLC18A3c.195C= (p.Arg65=)
c.-69+1736C= (n.-69+1736C=)
10g.49610935C>GCA469791049CHAT,SLC18A3c.195C>G (p.Arg65=)
c.-69+1736C>G (n.-69+1736C>G)
 gnomAD v4
10g.49610935C>TCA469791047CHAT,SLC18A3c.195C>T (p.Arg65=)
c.-69+1736C>T (n.-69+1736C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.49610936G>ACA5496706CHAT,SLC18A3c.196G>A (p.Gly66Arg)
c.-69+1737G>A (n.-69+1737G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.49610936G>CCA376716468CHAT,SLC18A3c.196G>C (p.Gly66Arg)
c.-69+1737G>C (n.-69+1737G>C)
10g.49610936G=CA1908792472CHAT,SLC18A3c.196G= (p.Gly66=)
c.-69+1737G= (n.-69+1737G=)
10g.49610936G>TCA376716471CHAT,SLC18A3c.196G>T (p.Gly66Trp)
c.-69+1737G>T (n.-69+1737G>T)
10g.49610936_49610937delinsTTCA645559471CHAT,SLC18A3c.196_197delinsTT (p.Gly66Leu)
c.-69+1737_-69+1738delinsTT (n.-69+1737_-69+1738delinsTT)
 COSMIC
10g.49610937G>ACA5496707CHAT,SLC18A3c.197G>A (p.Gly66Glu)
c.-69+1738G>A (n.-69+1738G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.49610937G>CCA376716476CHAT,SLC18A3c.197G>C (p.Gly66Ala)
c.-69+1738G>C (n.-69+1738G>C)
10g.49610937G=CA1908792479CHAT,SLC18A3c.197G= (p.Gly66=)
c.-69+1738G= (n.-69+1738G=)
10g.49610937G>TCA376716478CHAT,SLC18A3c.197G>T (p.Gly66Val)
c.-69+1738G>T (n.-69+1738G>T)
 dbSNP gnomAD v2
10g.49610938G>ACA469791054CHAT,SLC18A3c.198G>A (p.Gly66=)
c.-69+1739G>A (n.-69+1739G>A)
 dbSNP gnomAD v3 gnomAD v4
10g.49610938G>CCA469791053CHAT,SLC18A3c.198G>C (p.Gly66=)
c.-69+1739G>C (n.-69+1739G>C)
10g.49610938G=CA1908792485CHAT,SLC18A3c.198G= (p.Gly66=)
c.-69+1739G= (n.-69+1739G=)
10g.49610938G>TCA469791055CHAT,SLC18A3c.198G>T (p.Gly66=)
c.-69+1739G>T (n.-69+1739G>T)
10g.49610939G>ACA376716481CHAT,SLC18A3c.199G>A (p.Gly67Ser)
c.-69+1740G>A (n.-69+1740G>A)
 gnomAD v4
10g.49610939G>CCA376716484CHAT,SLC18A3c.199G>C (p.Gly67Arg)
c.-69+1740G>C (n.-69+1740G>C)
10g.49610939G>TCA376716487CHAT,SLC18A3c.199G>T (p.Gly67Cys)
c.-69+1740G>T (n.-69+1740G>T)
10g.49610940G>ACA5496708CHAT,SLC18A3c.200G>A (p.Gly67Asp)
c.-69+1741G>A (n.-69+1741G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.49610940G>CCA376716494CHAT,SLC18A3c.200G>C (p.Gly67Ala)
c.-69+1741G>C (n.-69+1741G>C)
10g.49610940G=CA1908792488CHAT,SLC18A3c.200G= (p.Gly67=)
c.-69+1741G= (n.-69+1741G=)
10g.49610940G>TCA376716492CHAT,SLC18A3c.200G>T (p.Gly67Val)
c.-69+1741G>T (n.-69+1741G>T)
 gnomAD v4
10g.49610941C>ACA469791060CHAT,SLC18A3c.201C>A (p.Gly67=)
c.-69+1742C>A (n.-69+1742C>A)
 gnomAD v4
10g.49610941C>GCA469791059CHAT,SLC18A3c.201C>G (p.Gly67=)
c.-69+1742C>G (n.-69+1742C>G)
10g.49610941C>TCA469791061CHAT,SLC18A3c.201C>T (p.Gly67=)
c.-69+1742C>T (n.-69+1742C>T)
 gnomAD v4
10g.49610942G>ACA5496709CHAT,SLC18A3c.202G>A (p.Gly68Ser)
c.-69+1743G>A (n.-69+1743G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.49610942G>CCA376716501CHAT,SLC18A3c.202G>C (p.Gly68Arg)
c.-69+1743G>C (n.-69+1743G>C)
 gnomAD v4
10g.49610942G=CA1908792493CHAT,SLC18A3c.202G= (p.Gly68=)
c.-69+1743G= (n.-69+1743G=)
10g.49610942G>TCA376716504CHAT,SLC18A3c.202G>T (p.Gly68Cys)
c.-69+1743G>T (n.-69+1743G>T)
10g.49610943G>ACA376716508CHAT,SLC18A3c.203G>A (p.Gly68Asp)
c.-69+1744G>A (n.-69+1744G>A)
 gnomAD v4
10g.49610943G>CCA376716509CHAT,SLC18A3c.203G>C (p.Gly68Ala)
c.-69+1744G>C (n.-69+1744G>C)
10g.49610943G=CA1908792497CHAT,SLC18A3c.203G= (p.Gly68=)
c.-69+1744G= (n.-69+1744G=)
10g.49610943G>TCA376716512CHAT,SLC18A3c.203G>T (p.Gly68Val)
c.-69+1744G>T (n.-69+1744G>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.49610944C>ACA469791066CHAT,SLC18A3c.204C>A (p.Gly68=)
c.-69+1745C>A (n.-69+1745C>A)
 dbSNP gnomAD v2 gnomAD v4
10g.49610944C=CA1908792500CHAT,SLC18A3c.204C= (p.Gly68=)
c.-69+1745C= (n.-69+1745C=)
10g.49610944C>GCA469791062CHAT,SLC18A3c.204C>G (p.Gly68=)
c.-69+1745C>G (n.-69+1745C>G)
10g.49610944C>TCA469791064CHAT,SLC18A3c.204C>T (p.Gly68=)
c.-69+1745C>T (n.-69+1745C>T)
 COSMIC
10g.49610945G>ACA5496710CHAT,SLC18A3c.205G>A (p.Glu69Lys)
c.-69+1746G>A (n.-69+1746G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.49610945G>CCA376716518CHAT,SLC18A3c.205G>C (p.Glu69Gln)
c.-69+1746G>C (n.-69+1746G>C)
10g.49610945G=CA1908792501CHAT,SLC18A3c.205G= (p.Glu69=)
c.-69+1746G= (n.-69+1746G=)
10g.49610945G>TCA376716521CHAT,SLC18A3c.205G>T (p.Glu69Ter)
c.-69+1746G>T (n.-69+1746G>T)
 gnomAD v4
10g.49610946A>CCA376716526CHAT,SLC18A3c.206A>C (p.Glu69Ala)
c.-69+1747A>C (n.-69+1747A>C)
10g.49610946A>GCA376716529CHAT,SLC18A3c.206A>G (p.Glu69Gly)
c.-69+1747A>G (n.-69+1747A>G)
 gnomAD v4
10g.49610946A>TCA376716532CHAT,SLC18A3c.206A>T (p.Glu69Val)
c.-69+1747A>T (n.-69+1747A>T)
10g.49610947G>ACA469791068CHAT,SLC18A3c.207G>A (p.Glu69=)
c.-69+1748G>A (n.-69+1748G>A)
10g.49610947G>CCA5496711CHAT,SLC18A3c.207G>C (p.Glu69Asp)
c.-69+1748G>C (n.-69+1748G>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.49610947G=CA1908792508CHAT,SLC18A3c.207G= (p.Glu69=)
c.-69+1748G= (n.-69+1748G=)
10g.49610947G>TCA376716537CHAT,SLC18A3c.207G>T (p.Glu69Asp)
c.-69+1748G>T (n.-69+1748G>T)
10g.49610948G>ACA5496712CHAT,SLC18A3c.208G>A (p.Gly70Ser)
c.-69+1749G>A (n.-69+1749G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.49610948G>CCA376716545CHAT,SLC18A3c.208G>C (p.Gly70Arg)
c.-69+1749G>C (n.-69+1749G>C)
10g.49610948G=CA1908792510CHAT,SLC18A3c.208G= (p.Gly70=)
c.-69+1749G= (n.-69+1749G=)
10g.49610948G>TCA376716540CHAT,SLC18A3c.208G>T (p.Gly70Cys)
c.-69+1749G>T (n.-69+1749G>T)
10g.49610949G>ACA376716548CHAT,SLC18A3c.209G>A (p.Gly70Asp)
c.-69+1750G>A (n.-69+1750G>A)
 dbSNP gnomAD v4
10g.49610949G>CCA376716551CHAT,SLC18A3c.209G>C (p.Gly70Ala)
c.-69+1750G>C (n.-69+1750G>C)
10g.49610949G=CA1908792515CHAT,SLC18A3c.209G= (p.Gly70=)
c.-69+1750G= (n.-69+1750G=)
10g.49610949G>TCA5496713CHAT,SLC18A3c.209G>T (p.Gly70Val)
c.-69+1750G>T (n.-69+1750G>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.49610950C>ACA469791073CHAT,SLC18A3c.210C>A (p.Gly70=)
c.-69+1751C>A (n.-69+1751C>A)
 dbSNP gnomAD v2 gnomAD v4
10g.49610950C=CA1908792521CHAT,SLC18A3c.210C= (p.Gly70=)
c.-69+1751C= (n.-69+1751C=)
10g.49610950C>GCA469791074CHAT,SLC18A3c.210C>G (p.Gly70=)
c.-69+1751C>G (n.-69+1751C>G)
10g.49610950C>TCA469791072CHAT,SLC18A3c.210C>T (p.Gly70=)
c.-69+1751C>T (n.-69+1751C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.49610951C>ACA376716558CHAT,SLC18A3c.211C>A (p.Pro71Thr)
c.-69+1752C>A (n.-69+1752C>A)
 gnomAD v4
10g.49610951C>GCA376716560CHAT,SLC18A3c.211C>G (p.Pro71Ala)
c.-69+1752C>G (n.-69+1752C>G)
 gnomAD v4
10g.49610951C>TCA376716561CHAT,SLC18A3c.211C>T (p.Pro71Ser)
c.-69+1752C>T (n.-69+1752C>T)
10g.49610952C>ACA376716565CHAT,SLC18A3c.212C>A (p.Pro71His)
c.-69+1753C>A (n.-69+1753C>A)
 gnomAD v4
10g.49610952C>GCA376716569CHAT,SLC18A3c.212C>G (p.Pro71Arg)
c.-69+1753C>G (n.-69+1753C>G)
10g.49610952C>TCA376716572CHAT,SLC18A3c.212C>T (p.Pro71Leu)
c.-69+1753C>T (n.-69+1753C>T)
 dbSNP gnomAD v3 gnomAD v4
10g.49610953C>ACA469791078CHAT,SLC18A3c.213C>A (p.Pro71=)
c.-69+1754C>A (n.-69+1754C>A)
10g.49610953C>GCA469791076CHAT,SLC18A3c.213C>G (p.Pro71=)
c.-69+1754C>G (n.-69+1754C>G)
10g.49610953C>TCA469791077CHAT,SLC18A3c.213C>T (p.Pro71=)
c.-69+1754C>T (n.-69+1754C>T)
10g.49610954A=CA1908792528CHAT,SLC18A3c.214A= (p.Thr72=)
c.-69+1755A= (n.-69+1755A=)
10g.49610954A>CCA376716577CHAT,SLC18A3c.214A>C (p.Thr72Pro)
c.-69+1755A>C (n.-69+1755A>C)
10g.49610954A>GCA376716580CHAT,SLC18A3c.214A>G (p.Thr72Ala)
c.-69+1755A>G (n.-69+1755A>G)
 dbSNP gnomAD v4
10g.49610954A>TCA376716583CHAT,SLC18A3c.214A>T (p.Thr72Ser)
c.-69+1755A>T (n.-69+1755A>T)
10g.49610955C>ACA376716592CHAT,SLC18A3c.215C>A (p.Thr72Asn)
c.-69+1756C>A (n.-69+1756C>A)
 dbSNP
10g.49610955C=CA1908792529CHAT,SLC18A3c.215C= (p.Thr72=)
c.-69+1756C= (n.-69+1756C=)
10g.49610955C>GCA376716590CHAT,SLC18A3c.215C>G (p.Thr72Ser)
c.-69+1756C>G (n.-69+1756C>G)
10g.49610955C>TCA376716586CHAT,SLC18A3c.215C>T (p.Thr72Ile)
c.-69+1756C>T (n.-69+1756C>T)
 dbSNP
10g.49610956C>ACA469791081CHAT,SLC18A3c.216C>A (p.Thr72=)
c.-69+1757C>A (n.-69+1757C>A)
 ClinVar dbSNP gnomAD v2 gnomAD v4
10g.49610956C=CA1908792532CHAT,SLC18A3c.216C= (p.Thr72=)
c.-69+1757C= (n.-69+1757C=)
10g.49610956C>GCA469791080CHAT,SLC18A3c.216C>G (p.Thr72=)
c.-69+1757C>G (n.-69+1757C>G)
10g.49610956C>TCA469791082CHAT,SLC18A3c.216C>T (p.Thr72=)
c.-69+1757C>T (n.-69+1757C>T)
 gnomAD v4
10g.49610957C>ACA469791083CHAT,SLC18A3c.217C>A (p.Arg73=)
c.-69+1758C>A (n.-69+1758C>A)
 gnomAD v4
10g.49610957C>GCA376716596CHAT,SLC18A3c.217C>G (p.Arg73Gly)
c.-69+1758C>G (n.-69+1758C>G)
10g.49610957C>TCA376716600CHAT,SLC18A3c.217C>T (p.Arg73Trp)
c.-69+1758C>T (n.-69+1758C>T)
10g.49610958G>ACA376716603CHAT,SLC18A3c.218G>A (p.Arg73Gln)
c.-69+1759G>A (n.-69+1759G>A)
10g.49610958G>CCA376716604CHAT,SLC18A3c.218G>C (p.Arg73Pro)
c.-69+1759G>C (n.-69+1759G>C)
10g.49610958G>TCA376716607CHAT,SLC18A3c.218G>T (p.Arg73Leu)
c.-69+1759G>T (n.-69+1759G>T)
10g.49610959G>ACA469791085CHAT,SLC18A3c.219G>A (p.Arg73=)
c.-69+1760G>A (n.-69+1760G>A)
10g.49610959G>CCA469791084CHAT,SLC18A3c.219G>C (p.Arg73=)
c.-69+1760G>C (n.-69+1760G>C)
10g.49610959G=CA1908792538CHAT,SLC18A3c.219G= (p.Arg73=)
c.-69+1760G= (n.-69+1760G=)
10g.49610959G>TCA206620833CHAT,SLC18A3c.219G>T (p.Arg73=)
c.-69+1760G>T (n.-69+1760G>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.49610960A=CA1908792545CHAT,SLC18A3c.220A= (p.Thr74=)
c.-69+1761A= (n.-69+1761A=)
10g.49610960A>CCA376716612CHAT,SLC18A3c.220A>C (p.Thr74Pro)
c.-69+1761A>C (n.-69+1761A>C)
 gnomAD v4
10g.49610960A>GCA376716615CHAT,SLC18A3c.220A>G (p.Thr74Ala)
c.-69+1761A>G (n.-69+1761A>G)
 dbSNP gnomAD v4
10g.49610960A>TCA376716617CHAT,SLC18A3c.220A>T (p.Thr74Ser)
c.-69+1761A>T (n.-69+1761A>T)
10g.49610961C>ACA376716623CHAT,SLC18A3c.221C>A (p.Thr74Asn)
c.-69+1762C>A (n.-69+1762C>A)
10g.49610961C>GCA376716625CHAT,SLC18A3c.221C>G (p.Thr74Ser)
c.-69+1762C>G (n.-69+1762C>G)
10g.49610961C>TCA376716630CHAT,SLC18A3c.221C>T (p.Thr74Ile)
c.-69+1762C>T (n.-69+1762C>T)
 gnomAD v4
10g.49610962T>ACA469791088CHAT,SLC18A3c.222T>A (p.Thr74=)
c.-69+1763T>A (n.-69+1763T>A)
10g.49610962T>CCA469791089CHAT,SLC18A3c.222T>C (p.Thr74=)
c.-69+1763T>C (n.-69+1763T>C)
10g.49610962T>GCA469791090CHAT,SLC18A3c.222T>G (p.Thr74=)
c.-69+1763T>G (n.-69+1763T>G)
10g.49610963C>ACA376716641CHAT,SLC18A3c.223C>A (p.Pro75Thr)
c.-69+1764C>A (n.-69+1764C>A)
10g.49610963C=CA1908792549CHAT,SLC18A3c.223C= (p.Pro75=)
c.-69+1764C= (n.-69+1764C=)
10g.49610963C>GCA376716637CHAT,SLC18A3c.223C>G (p.Pro75Ala)
c.-69+1764C>G (n.-69+1764C>G)
10g.49610963C>TCA376716634CHAT,SLC18A3c.223C>T (p.Pro75Ser)
c.-69+1764C>T (n.-69+1764C>T)
 dbSNP gnomAD v3 gnomAD v4
10g.49610963_49610965dupCA2609114747CHAT,SLC18A3c.223_225dup (p.Pro75_Glu76insPro)
c.-69+1764_-69+1766dup (n.-69+1764_-69+1766dup)
 gnomAD v4
10g.49610964C>ACA376716644CHAT,SLC18A3c.224C>A (p.Pro75His)
c.-69+1765C>A (n.-69+1765C>A)
10g.49610964C>GCA376716648CHAT,SLC18A3c.224C>G (p.Pro75Arg)
c.-69+1765C>G (n.-69+1765C>G)
10g.49610964C>TCA376716646CHAT,SLC18A3c.224C>T (p.Pro75Leu)
c.-69+1765C>T (n.-69+1765C>T)
10g.49610965C>ACA469791091CHAT,SLC18A3c.225C>A (p.Pro75=)
c.-69+1766C>A (n.-69+1766C>A)
10g.49610965C=CA1908792558CHAT,SLC18A3c.225C= (p.Pro75=)
c.-69+1766C= (n.-69+1766C=)
10g.49610965C>GCA469791093CHAT,SLC18A3c.225C>G (p.Pro75=)
c.-69+1766C>G (n.-69+1766C>G)
 gnomAD v4
10g.49610965C>TCA5496714CHAT,SLC18A3c.225C>T (p.Pro75=)
c.-69+1766C>T (n.-69+1766C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.49610966G>ACA376716656CHAT,SLC18A3c.226G>A (p.Glu76Lys)
c.-69+1767G>A (n.-69+1767G>A)
 gnomAD v4 COSMIC
10g.49610966G>CCA376716658CHAT,SLC18A3c.226G>C (p.Glu76Gln)
c.-69+1767G>C (n.-69+1767G>C)
 gnomAD v4
10g.49610966G>TCA376716659CHAT,SLC18A3c.226G>T (p.Glu76Ter)
c.-69+1767G>T (n.-69+1767G>T)
10g.49610967A>CCA376716662CHAT,SLC18A3c.227A>C (p.Glu76Ala)
c.-69+1768A>C (n.-69+1768A>C)
10g.49610967A>GCA376716665CHAT,SLC18A3c.227A>G (p.Glu76Gly)
c.-69+1768A>G (n.-69+1768A>G)
10g.49610967A>TCA376716667CHAT,SLC18A3c.227A>T (p.Glu76Val)
c.-69+1768A>T (n.-69+1768A>T)
10g.49610967_49610968delinsAGCA1908792562CHAT,SLC18A3c.227_228delinsAG (p.Glu76=)
c.-69+1768_-69+1769delinsAG (n.-69+1768_-69+1769delinsAG)
10g.49610968G>ACA469791095CHAT,SLC18A3c.228G>A (p.Glu76=)
c.-69+1769G>A (n.-69+1769G>A)
10g.49610968G>CCA5496716CHAT,SLC18A3c.228G>C (p.Glu76Asp)
c.-69+1769G>C (n.-69+1769G>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.49610968G=CA1908792571CHAT,SLC18A3c.228G= (p.Glu76=)
c.-69+1769G= (n.-69+1769G=)
10g.49610968G>TCA376716674CHAT,SLC18A3c.228G>T (p.Glu76Asp)
c.-69+1769G>T (n.-69+1769G>T)
 COSMIC
10g.49610969delCA5496715CHAT,SLC18A3c.229del (p.Val77CysfsTer?)
c.-69+1770del (n.-69+1770del)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.49610969G>ACA206620842CHAT,SLC18A3c.229G>A (p.Val77Met)
c.-69+1770G>A (n.-69+1770G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.49610969G>CCA376716681CHAT,SLC18A3c.229G>C (p.Val77Leu)
c.-69+1770G>C (n.-69+1770G>C)
10g.49610969G=CA1908792580CHAT,SLC18A3c.229G= (p.Val77=)
c.-69+1770G= (n.-69+1770G=)
10g.49610969G>TCA376716682CHAT,SLC18A3c.229G>T (p.Val77Leu)
c.-69+1770G>T (n.-69+1770G>T)
 gnomAD v4
10g.49610970T>ACA376716692CHAT,SLC18A3c.230T>A (p.Val77Glu)
c.-69+1771T>A (n.-69+1771T>A)
10g.49610970T>CCA376716690CHAT,SLC18A3c.230T>C (p.Val77Ala)
c.-69+1771T>C (n.-69+1771T>C)
10g.49610970T>GCA376716686CHAT,SLC18A3c.230T>G (p.Val77Gly)
c.-69+1771T>G (n.-69+1771T>G)
10g.49610971G>ACA469791101CHAT,SLC18A3c.231G>A (p.Val77=)
c.-69+1772G>A (n.-69+1772G>A)
 dbSNP gnomAD v4
10g.49610971G>CCA469791100CHAT,SLC18A3c.231G>C (p.Val77=)
c.-69+1772G>C (n.-69+1772G>C)
10g.49610971G=CA1908792583CHAT,SLC18A3c.231G= (p.Val77=)
c.-69+1772G= (n.-69+1772G=)
10g.49610971G>TCA469791099CHAT,SLC18A3c.231G>T (p.Val77=)
c.-69+1772G>T (n.-69+1772G>T)
10g.49610971_49610984delinsGTGGGAGCCCACCCCA1908792585CHAT,SLC18A3c.231_244delinsGTGGGAGCCCACCC (p.Val77=)
c.-69+1772_-69+1785delinsGTGGGAGCCCACCC (n.-69+1772_-69+1785delinsGTGGGAGCCCACCC)
10g.49610972T>ACA376716696CHAT,SLC18A3c.232T>A (p.Trp78Arg)
c.-69+1773T>A (n.-69+1773T>A)
10g.49610972T>CCA376716700CHAT,SLC18A3c.232T>C (p.Trp78Arg)
c.-69+1773T>C (n.-69+1773T>C)
10g.49610972T>GCA5496718CHAT,SLC18A3c.232T>G (p.Trp78Gly)
c.-69+1773T>G (n.-69+1773T>G)
 dbSNP ExAC gnomAD v4
10g.49610972T=CA1908792597CHAT,SLC18A3c.232T= (p.Trp78=)
c.-69+1773T= (n.-69+1773T=)
10g.49610974_49610986delCA5496717CHAT,SLC18A3c.234_246del (p.Trp78CysfsTer?)
c.-69+1775_-69+1787del (n.-69+1775_-69+1787del)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.49610973G>ACA376716705CHAT,SLC18A3c.233G>A (p.Trp78Ter)
c.-69+1774G>A (n.-69+1774G>A)
10g.49610973G>CCA376716707CHAT,SLC18A3c.233G>C (p.Trp78Ser)
c.-69+1774G>C (n.-69+1774G>C)
10g.49610973G=CA1908792605CHAT,SLC18A3c.233G= (p.Trp78=)
c.-69+1774G= (n.-69+1774G=)
10g.49610973G>TCA206620851CHAT,SLC18A3c.233G>T (p.Trp78Leu)
c.-69+1774G>T (n.-69+1774G>T)
 dbSNP gnomAD v3 gnomAD v4
10g.49610974G>ACA376716710CHAT,SLC18A3c.234G>A (p.Trp78Ter)
c.-69+1775G>A (n.-69+1775G>A)
 gnomAD v4
10g.49610974G>CCA5496719CHAT,SLC18A3c.234G>C (p.Trp78Cys)
c.-69+1775G>C (n.-69+1775G>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.49610974G=CA1908792610CHAT,SLC18A3c.234G= (p.Trp78=)
c.-69+1775G= (n.-69+1775G=)
10g.49610974G>TCA376716712CHAT,SLC18A3c.234G>T (p.Trp78Cys)
c.-69+1775G>T (n.-69+1775G>T)
10g.49610975G>ACA376716717CHAT,SLC18A3c.235G>A (p.Glu79Lys)
c.-69+1776G>A (n.-69+1776G>A)
10g.49610975G>CCA376716718CHAT,SLC18A3c.235G>C (p.Glu79Gln)
c.-69+1776G>C (n.-69+1776G>C)
10g.49610975G=CA1908792620CHAT,SLC18A3c.235G= (p.Glu79=)
c.-69+1776G= (n.-69+1776G=)
10g.49610975G>TCA376716721CHAT,SLC18A3c.235G>T (p.Glu79Ter)
c.-69+1776G>T (n.-69+1776G>T)
 dbSNP
10g.49610976A>CCA376716728CHAT,SLC18A3c.236A>C (p.Glu79Ala)
c.-69+1777A>C (n.-69+1777A>C)
10g.49610976A>GCA376716730CHAT,SLC18A3c.236A>G (p.Glu79Gly)
c.-69+1777A>G (n.-69+1777A>G)
10g.49610976A>TCA376716725CHAT,SLC18A3c.236A>T (p.Glu79Val)
c.-69+1777A>T (n.-69+1777A>T)
 gnomAD v4
10g.49610977G>ACA206620859CHAT,SLC18A3c.237G>A (p.Glu79=)
c.-69+1778G>A (n.-69+1778G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.49610977G>CCA5496720CHAT,SLC18A3c.237G>C (p.Glu79Asp)
c.-69+1778G>C (n.-69+1778G>C)
 dbSNP ExAC gnomAD v2
10g.49610977G=CA1908792624CHAT,SLC18A3c.237G= (p.Glu79=)
c.-69+1778G= (n.-69+1778G=)
10g.49610977G>TCA376716735CHAT,SLC18A3c.237G>T (p.Glu79Asp)
c.-69+1778G>T (n.-69+1778G>T)
10g.49610978C>ACA376716738CHAT,SLC18A3c.238C>A (p.Pro80Thr)
c.-69+1779C>A (n.-69+1779C>A)
10g.49610978C=CA1908792627CHAT,SLC18A3c.238C= (p.Pro80=)
c.-69+1779C= (n.-69+1779C=)
10g.49610978C>GCA376716740CHAT,SLC18A3c.238C>G (p.Pro80Ala)
c.-69+1779C>G (n.-69+1779C>G)
10g.49610978C>TCA206620862CHAT,SLC18A3c.238C>T (p.Pro80Ser)
c.-69+1779C>T (n.-69+1779C>T)
 ClinVar dbSNP gnomAD v4
10g.49610979C>ACA376716745CHAT,SLC18A3c.239C>A (p.Pro80His)
c.-69+1780C>A (n.-69+1780C>A)
10g.49610979C=CA1908792629CHAT,SLC18A3c.239C= (p.Pro80=)
c.-69+1780C= (n.-69+1780C=)
10g.49610979C>GCA5496721CHAT,SLC18A3c.239C>G (p.Pro80Arg)
c.-69+1780C>G (n.-69+1780C>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.49610979C>TCA5496722CHAT,SLC18A3c.239C>T (p.Pro80Leu)
c.-69+1780C>T (n.-69+1780C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.49610980C>ACA469791115CHAT,SLC18A3c.240C>A (p.Pro80=)
c.-69+1781C>A (n.-69+1781C>A)
10g.49610980C>GCA469791117CHAT,SLC18A3c.240C>G (p.Pro80=)
c.-69+1781C>G (n.-69+1781C>G)
 gnomAD v4
10g.49610980C>TCA469791114CHAT,SLC18A3c.240C>T (p.Pro80=)
c.-69+1781C>T (n.-69+1781C>T)
 ClinVar dbSNP
10g.49610981A=CA1908792632CHAT,SLC18A3c.241A= (p.Thr81=)
c.-69+1782A= (n.-69+1782A=)
10g.49610981A>CCA5496723CHAT,SLC18A3c.241A>C (p.Thr81Pro)
c.-69+1782A>C (n.-69+1782A>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.49610981A>GCA376716752CHAT,SLC18A3c.241A>G (p.Thr81Ala)
c.-69+1782A>G (n.-69+1782A>G)
10g.49610981A>TCA376716755CHAT,SLC18A3c.241A>T (p.Thr81Ser)
c.-69+1782A>T (n.-69+1782A>T)
 gnomAD v4

Number of alleles fetched