Chr Mutation (hg38) CAid Gene Transcript Linkouts
10g.49611175C>ACA376718555CHAT,SLC18A3c.435C>A (p.Phe145Leu)
c.-69+1976C>A (n.-69+1976C>A)
10g.49611175C>GCA376718557CHAT,SLC18A3c.435C>G (p.Phe145Leu)
c.-69+1976C>G (n.-69+1976C>G)
10g.49611175C>TCA469791377CHAT,SLC18A3c.435C>T (p.Phe145=)
c.-69+1976C>T (n.-69+1976C>T)
10g.49611176A=CA1908793095CHAT,SLC18A3c.436A= (p.Ile146=)
c.-69+1977A= (n.-69+1977A=)
10g.49611176A>CCA376718559CHAT,SLC18A3c.436A>C (p.Ile146Leu)
c.-69+1977A>C (n.-69+1977A>C)
10g.49611176A>GCA5496763CHAT,SLC18A3c.436A>G (p.Ile146Val)
c.-69+1977A>G (n.-69+1977A>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.49611176A>TCA376718561CHAT,SLC18A3c.436A>T (p.Ile146Phe)
c.-69+1977A>T (n.-69+1977A>T)
10g.49611177T>ACA376718564CHAT,SLC18A3c.437T>A (p.Ile146Asn)
c.-69+1978T>A (n.-69+1978T>A)
10g.49611177T>CCA376718566CHAT,SLC18A3c.437T>C (p.Ile146Thr)
c.-69+1978T>C (n.-69+1978T>C)
 gnomAD v4
10g.49611177T>GCA376718568CHAT,SLC18A3c.437T>G (p.Ile146Ser)
c.-69+1978T>G (n.-69+1978T>G)
10g.49611178C>ACA469791384CHAT,SLC18A3c.438C>A (p.Ile146=)
c.-69+1979C>A (n.-69+1979C>A)
10g.49611178C=CA1908793096CHAT,SLC18A3c.438C= (p.Ile146=)
c.-69+1979C= (n.-69+1979C=)
10g.49611178C>GCA376718570CHAT,SLC18A3c.438C>G (p.Ile146Met)
c.-69+1979C>G (n.-69+1979C>G)
10g.49611178C>TCA5496764CHAT,SLC18A3c.438C>T (p.Ile146=)
c.-69+1979C>T (n.-69+1979C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.49611179G>ACA376718574CHAT,SLC18A3c.439G>A (p.Asp147Asn)
c.-69+1980G>A (n.-69+1980G>A)
10g.49611179G>CCA376718575CHAT,SLC18A3c.439G>C (p.Asp147His)
c.-69+1980G>C (n.-69+1980G>C)
10g.49611179G>TCA376718577CHAT,SLC18A3c.439G>T (p.Asp147Tyr)
c.-69+1980G>T (n.-69+1980G>T)
 gnomAD v4
10g.49611180A>CCA376718584CHAT,SLC18A3c.440A>C (p.Asp147Ala)
c.-69+1981A>C (n.-69+1981A>C)
10g.49611180A>GCA376718580CHAT,SLC18A3c.440A>G (p.Asp147Gly)
c.-69+1981A>G (n.-69+1981A>G)
10g.49611180A>TCA376718582CHAT,SLC18A3c.440A>T (p.Asp147Val)
c.-69+1981A>T (n.-69+1981A>T)
10g.49611181C>ACA376718586CHAT,SLC18A3c.441C>A (p.Asp147Glu)
c.-69+1982C>A (n.-69+1982C>A)
10g.49611181C>GCA376718587CHAT,SLC18A3c.441C>G (p.Asp147Glu)
c.-69+1982C>G (n.-69+1982C>G)
10g.49611181C>TCA469791391CHAT,SLC18A3c.441C>T (p.Asp147=)
c.-69+1982C>T (n.-69+1982C>T)
10g.49611182C>ACA5496766CHAT,SLC18A3c.442C>A (p.Arg148Ser)
c.-69+1983C>A (n.-69+1983C>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.49611182C=CA1908793098CHAT,SLC18A3c.442C= (p.Arg148=)
c.-69+1983C= (n.-69+1983C=)
10g.49611182C>GCA376718588CHAT,SLC18A3c.442C>G (p.Arg148Gly)
c.-69+1983C>G (n.-69+1983C>G)
10g.49611182C>TCA5496765CHAT,SLC18A3c.442C>T (p.Arg148Cys)
c.-69+1983C>T (n.-69+1983C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.49611183G>ACA376718590CHAT,SLC18A3c.443G>A (p.Arg148His)
c.-69+1984G>A (n.-69+1984G>A)
 dbSNP gnomAD v4 COSMIC
10g.49611183G>CCA376718592CHAT,SLC18A3c.443G>C (p.Arg148Pro)
c.-69+1984G>C (n.-69+1984G>C)
10g.49611183G=CA1908793100CHAT,SLC18A3c.443G= (p.Arg148=)
c.-69+1984G= (n.-69+1984G=)
10g.49611183G>TCA376718593CHAT,SLC18A3c.443G>T (p.Arg148Leu)
c.-69+1984G>T (n.-69+1984G>T)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.49611184C>ACA469791400CHAT,SLC18A3c.444C>A (p.Arg148=)
c.-69+1985C>A (n.-69+1985C>A)
10g.49611184C>GCA469791399CHAT,SLC18A3c.444C>G (p.Arg148=)
c.-69+1985C>G (n.-69+1985C>G)
10g.49611184C>TCA469791398CHAT,SLC18A3c.444C>T (p.Arg148=)
c.-69+1985C>T (n.-69+1985C>T)
10g.49611185A=CA1908793104CHAT,SLC18A3c.445A= (p.Met149=)
c.-69+1986A= (n.-69+1986A=)
10g.49611185A>CCA376718596CHAT,SLC18A3c.445A>C (p.Met149Leu)
c.-69+1986A>C (n.-69+1986A>C)
 dbSNP
10g.49611185A>GCA376718599CHAT,SLC18A3c.445A>G (p.Met149Val)
c.-69+1986A>G (n.-69+1986A>G)
 dbSNP gnomAD v3 gnomAD v4
10g.49611185A>TCA376718601CHAT,SLC18A3c.445A>T (p.Met149Leu)
c.-69+1986A>T (n.-69+1986A>T)
10g.49611186T>ACA376718607CHAT,SLC18A3c.446T>A (p.Met149Lys)
c.-69+1987T>A (n.-69+1987T>A)
 gnomAD v4
10g.49611186T>CCA376718605CHAT,SLC18A3c.446T>C (p.Met149Thr)
c.-69+1987T>C (n.-69+1987T>C)
 gnomAD v4
10g.49611186T>GCA376718603CHAT,SLC18A3c.446T>G (p.Met149Arg)
c.-69+1987T>G (n.-69+1987T>G)
10g.49611187G>ACA376718608CHAT,SLC18A3c.447G>A (p.Met149Ile)
c.-69+1988G>A (n.-69+1988G>A)
10g.49611187G>CCA376718610CHAT,SLC18A3c.447G>C (p.Met149Ile)
c.-69+1988G>C (n.-69+1988G>C)
10g.49611187G>TCA376718609CHAT,SLC18A3c.447G>T (p.Met149Ile)
c.-69+1988G>T (n.-69+1988G>T)
10g.49611188A=CA1908793107CHAT,SLC18A3c.448A= (p.Ser150=)
c.-69+1989A= (n.-69+1989A=)
10g.49611188A>CCA376718613CHAT,SLC18A3c.448A>C (p.Ser150Arg)
c.-69+1989A>C (n.-69+1989A>C)
10g.49611188A>GCA376718618CHAT,SLC18A3c.448A>G (p.Ser150Gly)
c.-69+1989A>G (n.-69+1989A>G)
 dbSNP gnomAD v2 gnomAD v4
10g.49611188A>TCA376718614CHAT,SLC18A3c.448A>T (p.Ser150Cys)
c.-69+1989A>T (n.-69+1989A>T)
10g.49611189G>ACA376718620CHAT,SLC18A3c.449G>A (p.Ser150Asn)
c.-69+1990G>A (n.-69+1990G>A)
 dbSNP gnomAD v4
10g.49611189G>CCA376718622CHAT,SLC18A3c.449G>C (p.Ser150Thr)
c.-69+1990G>C (n.-69+1990G>C)
10g.49611189G>TCA376718624CHAT,SLC18A3c.449G>T (p.Ser150Ile)
c.-69+1990G>T (n.-69+1990G>T)
10g.49611190C>ACA376718627CHAT,SLC18A3c.450C>A (p.Ser150Arg)
c.-69+1991C>A (n.-69+1991C>A)
 gnomAD v4
10g.49611190C>GCA376718629CHAT,SLC18A3c.450C>G (p.Ser150Arg)
c.-69+1991C>G (n.-69+1991C>G)
10g.49611190C>TCA469791415CHAT,SLC18A3c.450C>T (p.Ser150=)
c.-69+1991C>T (n.-69+1991C>T)
10g.49611191T>ACA376718631CHAT,SLC18A3c.451T>A (p.Tyr151Asn)
c.-69+1992T>A (n.-69+1992T>A)
10g.49611191T>CCA376718635CHAT,SLC18A3c.451T>C (p.Tyr151His)
c.-69+1992T>C (n.-69+1992T>C)
10g.49611191T>GCA376718636CHAT,SLC18A3c.451T>G (p.Tyr151Asp)
c.-69+1992T>G (n.-69+1992T>G)
10g.49611192A=CA1908793110CHAT,SLC18A3c.452A= (p.Tyr151=)
c.-69+1993A= (n.-69+1993A=)
10g.49611192A>CCA376718638CHAT,SLC18A3c.452A>C (p.Tyr151Ser)
c.-69+1993A>C (n.-69+1993A>C)
10g.49611192A>GCA376718643CHAT,SLC18A3c.452A>G (p.Tyr151Cys)
c.-69+1993A>G (n.-69+1993A>G)
 dbSNP gnomAD v2 gnomAD v4
10g.49611192A>TCA376718645CHAT,SLC18A3c.452A>T (p.Tyr151Phe)
c.-69+1993A>T (n.-69+1993A>T)
10g.49611193C>ACA376718651CHAT,SLC18A3c.453C>A (p.Tyr151Ter)
c.-69+1994C>A (n.-69+1994C>A)
10g.49611193C=CA1908793117CHAT,SLC18A3c.453C= (p.Tyr151=)
c.-69+1994C= (n.-69+1994C=)
10g.49611193C>GCA376718648CHAT,SLC18A3c.453C>G (p.Tyr151Ter)
c.-69+1994C>G (n.-69+1994C>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.49611193C>TCA469791418CHAT,SLC18A3c.453C>T (p.Tyr151=)
c.-69+1994C>T (n.-69+1994C>T)
 dbSNP gnomAD v3 gnomAD v4
10g.49611194G>ACA376718654CHAT,SLC18A3c.454G>A (p.Asp152Asn)
c.-69+1995G>A (n.-69+1995G>A)
10g.49611194G>CCA376718657CHAT,SLC18A3c.454G>C (p.Asp152His)
c.-69+1995G>C (n.-69+1995G>C)
10g.49611194G=CA1908793121CHAT,SLC18A3c.454G= (p.Asp152=)
c.-69+1995G= (n.-69+1995G=)
10g.49611194G>TCA5496767CHAT,SLC18A3c.454G>T (p.Asp152Tyr)
c.-69+1995G>T (n.-69+1995G>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
10g.49611195A>CCA376718662CHAT,SLC18A3c.455A>C (p.Asp152Ala)
c.-69+1996A>C (n.-69+1996A>C)
10g.49611195A>GCA376718664CHAT,SLC18A3c.455A>G (p.Asp152Gly)
c.-69+1996A>G (n.-69+1996A>G)
10g.49611195A>TCA376718668CHAT,SLC18A3c.455A>T (p.Asp152Val)
c.-69+1996A>T (n.-69+1996A>T)
10g.49611196C>ACA376718671CHAT,SLC18A3c.456C>A (p.Asp152Glu)
c.-69+1997C>A (n.-69+1997C>A)
 ClinVar dbSNP gnomAD v2 gnomAD v4
10g.49611196C=CA1908793126CHAT,SLC18A3c.456C= (p.Asp152=)
c.-69+1997C= (n.-69+1997C=)
10g.49611196C>GCA376718674CHAT,SLC18A3c.456C>G (p.Asp152Glu)
c.-69+1997C>G (n.-69+1997C>G)
 gnomAD v4
10g.49611196C>TCA469791428CHAT,SLC18A3c.456C>T (p.Asp152=)
c.-69+1997C>T (n.-69+1997C>T)
 COSMIC
10g.49611197G>ACA376718679CHAT,SLC18A3c.457G>A (p.Val153Met)
c.-69+1998G>A (n.-69+1998G>A)
 dbSNP gnomAD v4
10g.49611197G>CCA376718682CHAT,SLC18A3c.457G>C (p.Val153Leu)
c.-69+1998G>C (n.-69+1998G>C)
 dbSNP gnomAD v4 COSMIC
10g.49611197G=CA1908793134CHAT,SLC18A3c.457G= (p.Val153=)
c.-69+1998G= (n.-69+1998G=)
10g.49611197G>TCA376718685CHAT,SLC18A3c.457G>T (p.Val153Leu)
c.-69+1998G>T (n.-69+1998G>T)
 gnomAD v4
10g.49611198T>ACA376718690CHAT,SLC18A3c.458T>A (p.Val153Glu)
c.-69+1999T>A (n.-69+1999T>A)
10g.49611198T>CCA376718693CHAT,SLC18A3c.458T>C (p.Val153Ala)
c.-69+1999T>C (n.-69+1999T>C)
10g.49611198T>GCA376718688CHAT,SLC18A3c.458T>G (p.Val153Gly)
c.-69+1999T>G (n.-69+1999T>G)
10g.49611199G>ACA469791439CHAT,SLC18A3c.459G>A (p.Val153=)
c.-69+2000G>A (n.-69+2000G>A)
10g.49611199G>CCA469791441CHAT,SLC18A3c.459G>C (p.Val153=)
c.-69+2000G>C (n.-69+2000G>C)
10g.49611199G=CA1908793136CHAT,SLC18A3c.459G= (p.Val153=)
c.-69+2000G= (n.-69+2000G=)
10g.49611199G>TCA5496768CHAT,SLC18A3c.459G>T (p.Val153=)
c.-69+2000G>T (n.-69+2000G>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.49611200C>ACA376718698CHAT,SLC18A3c.460C>A (p.Pro154Thr)
c.-69+2001C>A (n.-69+2001C>A)
10g.49611200C>GCA376718700CHAT,SLC18A3c.460C>G (p.Pro154Ala)
c.-69+2001C>G (n.-69+2001C>G)
10g.49611200C>TCA376718703CHAT,SLC18A3c.460C>T (p.Pro154Ser)
c.-69+2001C>T (n.-69+2001C>T)
10g.49611201delCA2574545083CHAT,SLC18A3c.461del (p.Pro154ArgfsTer3)
c.-69+2002del (n.-69+2002del)
10g.49611201C>ACA376718711CHAT,SLC18A3c.461C>A (p.Pro154Gln)
c.-69+2002C>A (n.-69+2002C>A)
 dbSNP
10g.49611201C=CA1908793138CHAT,SLC18A3c.461C= (p.Pro154=)
c.-69+2002C= (n.-69+2002C=)
10g.49611201C>GCA376718714CHAT,SLC18A3c.461C>G (p.Pro154Arg)
c.-69+2002C>G (n.-69+2002C>G)
10g.49611201C>TCA376718717CHAT,SLC18A3c.461C>T (p.Pro154Leu)
c.-69+2002C>T (n.-69+2002C>T)
10g.49611202G>ACA469791447CHAT,SLC18A3c.462G>A (p.Pro154=)
c.-69+2003G>A (n.-69+2003G>A)
 COSMIC
10g.49611202G>CCA469791451CHAT,SLC18A3c.462G>C (p.Pro154=)
c.-69+2003G>C (n.-69+2003G>C)
10g.49611202G>TCA469791445CHAT,SLC18A3c.462G>T (p.Pro154=)
c.-69+2003G>T (n.-69+2003G>T)
 gnomAD v4
10g.49611203C>ACA376718720CHAT,SLC18A3c.463C>A (p.Leu155Met)
c.-69+2004C>A (n.-69+2004C>A)
10g.49611203C>GCA376718723CHAT,SLC18A3c.463C>G (p.Leu155Val)
c.-69+2004C>G (n.-69+2004C>G)
10g.49611203C>TCA469791458CHAT,SLC18A3c.463C>T (p.Leu155=)
c.-69+2004C>T (n.-69+2004C>T)
10g.49611204T>ACA376718726CHAT,SLC18A3c.464T>A (p.Leu155Gln)
c.-69+2005T>A (n.-69+2005T>A)
10g.49611204T>CCA376718728CHAT,SLC18A3c.464T>C (p.Leu155Pro)
c.-69+2005T>C (n.-69+2005T>C)
10g.49611204T>GCA376718730CHAT,SLC18A3c.464T>G (p.Leu155Arg)
c.-69+2005T>G (n.-69+2005T>G)
10g.49611205G>ACA469791465CHAT,SLC18A3c.465G>A (p.Leu155=)
c.-69+2006G>A (n.-69+2006G>A)
 gnomAD v4
10g.49611205G>CCA469791461CHAT,SLC18A3c.465G>C (p.Leu155=)
c.-69+2006G>C (n.-69+2006G>C)
10g.49611205G=CA1908793140CHAT,SLC18A3c.465G= (p.Leu155=)
c.-69+2006G= (n.-69+2006G=)
10g.49611205G>TCA469791463CHAT,SLC18A3c.465G>T (p.Leu155=)
c.-69+2006G>T (n.-69+2006G>T)
 dbSNP gnomAD v3 gnomAD v4
10g.49611206C>ACA376718737CHAT,SLC18A3c.466C>A (p.Leu156Met)
c.-69+2007C>A (n.-69+2007C>A)
10g.49611206C>GCA376718733CHAT,SLC18A3c.466C>G (p.Leu156Val)
c.-69+2007C>G (n.-69+2007C>G)
10g.49611206C>TCA469791466CHAT,SLC18A3c.466C>T (p.Leu156=)
c.-69+2007C>T (n.-69+2007C>T)
10g.49611207T>ACA376718740CHAT,SLC18A3c.467T>A (p.Leu156Gln)
c.-69+2008T>A (n.-69+2008T>A)
10g.49611207T>CCA206621007CHAT,SLC18A3c.467T>C (p.Leu156Pro)
c.-69+2008T>C (n.-69+2008T>C)
 dbSNP
10g.49611207T>GCA376718755CHAT,SLC18A3c.467T>G (p.Leu156Arg)
c.-69+2008T>G (n.-69+2008T>G)
10g.49611207T=CA1908793143CHAT,SLC18A3c.467T= (p.Leu156=)
c.-69+2008T= (n.-69+2008T=)
10g.49611208G>ACA469791473CHAT,SLC18A3c.468G>A (p.Leu156=)
c.-69+2009G>A (n.-69+2009G>A)
 dbSNP gnomAD v2 gnomAD v4
10g.49611208G>CCA469791471CHAT,SLC18A3c.468G>C (p.Leu156=)
c.-69+2009G>C (n.-69+2009G>C)
 gnomAD v4
10g.49611208G=CA1908793144CHAT,SLC18A3c.468G= (p.Leu156=)
c.-69+2009G= (n.-69+2009G=)
10g.49611208G>TCA469791472CHAT,SLC18A3c.468G>T (p.Leu156=)
c.-69+2009G>T (n.-69+2009G>T)
 gnomAD v4
10g.49611209A>CCA376718760CHAT,SLC18A3c.469A>C (p.Ile157Leu)
c.-69+2010A>C (n.-69+2010A>C)
10g.49611209A>GCA376718763CHAT,SLC18A3c.469A>G (p.Ile157Val)
c.-69+2010A>G (n.-69+2010A>G)
10g.49611209A>TCA376718765CHAT,SLC18A3c.469A>T (p.Ile157Phe)
c.-69+2010A>T (n.-69+2010A>T)
10g.49611210T>ACA376718768CHAT,SLC18A3c.470T>A (p.Ile157Asn)
c.-69+2011T>A (n.-69+2011T>A)
10g.49611210T>CCA376718771CHAT,SLC18A3c.470T>C (p.Ile157Thr)
c.-69+2011T>C (n.-69+2011T>C)
10g.49611210T>GCA376718773CHAT,SLC18A3c.470T>G (p.Ile157Ser)
c.-69+2011T>G (n.-69+2011T>G)
10g.49611211C>ACA469791482CHAT,SLC18A3c.471C>A (p.Ile157=)
c.-69+2012C>A (n.-69+2012C>A)
 gnomAD v4
10g.49611211C>GCA376718776CHAT,SLC18A3c.471C>G (p.Ile157Met)
c.-69+2012C>G (n.-69+2012C>G)
10g.49611211C>TCA469791484CHAT,SLC18A3c.471C>T (p.Ile157=)
c.-69+2012C>T (n.-69+2012C>T)
 gnomAD v4
10g.49611212G>ACA376718778CHAT,SLC18A3c.472G>A (p.Gly158Ser)
c.-69+2013G>A (n.-69+2013G>A)
10g.49611212G>CCA376718779CHAT,SLC18A3c.472G>C (p.Gly158Arg)
c.-69+2013G>C (n.-69+2013G>C)
10g.49611212G>TCA376718781CHAT,SLC18A3c.472G>T (p.Gly158Cys)
c.-69+2013G>T (n.-69+2013G>T)
10g.49611213G>ACA376718787CHAT,SLC18A3c.473G>A (p.Gly158Asp)
c.-69+2014G>A (n.-69+2014G>A)
10g.49611213G>CCA376718785CHAT,SLC18A3c.473G>C (p.Gly158Ala)
c.-69+2014G>C (n.-69+2014G>C)
10g.49611213G>TCA376718783CHAT,SLC18A3c.473G>T (p.Gly158Val)
c.-69+2014G>T (n.-69+2014G>T)
10g.49611214C>ACA469791500CHAT,SLC18A3c.474C>A (p.Gly158=)
c.-69+2015C>A (n.-69+2015C>A)
10g.49611214C>GCA469791497CHAT,SLC18A3c.474C>G (p.Gly158=)
c.-69+2015C>G (n.-69+2015C>G)
10g.49611214C>TCA469791501CHAT,SLC18A3c.474C>T (p.Gly158=)
c.-69+2015C>T (n.-69+2015C>T)
10g.49611215C>ACA376718790CHAT,SLC18A3c.475C>A (p.Leu159Met)
c.-69+2016C>A (n.-69+2016C>A)
10g.49611215C>GCA376718792CHAT,SLC18A3c.475C>G (p.Leu159Val)
c.-69+2016C>G (n.-69+2016C>G)
10g.49611215C>TCA469791504CHAT,SLC18A3c.475C>T (p.Leu159=)
c.-69+2016C>T (n.-69+2016C>T)
10g.49611216T>ACA376718793CHAT,SLC18A3c.476T>A (p.Leu159Gln)
c.-69+2017T>A (n.-69+2017T>A)
10g.49611216T>CCA376718796CHAT,SLC18A3c.476T>C (p.Leu159Pro)
c.-69+2017T>C (n.-69+2017T>C)
10g.49611216T>GCA376718798CHAT,SLC18A3c.476T>G (p.Leu159Arg)
c.-69+2017T>G (n.-69+2017T>G)
 gnomAD v4
10g.49611217G>ACA469791512CHAT,SLC18A3c.477G>A (p.Leu159=)
c.-69+2018G>A (n.-69+2018G>A)
10g.49611217G>CCA469791513CHAT,SLC18A3c.477G>C (p.Leu159=)
c.-69+2018G>C (n.-69+2018G>C)
 gnomAD v4
10g.49611217G>TCA469791507CHAT,SLC18A3c.477G>T (p.Leu159=)
c.-69+2018G>T (n.-69+2018G>T)
10g.49611218G>ACA376718800CHAT,SLC18A3c.478G>A (p.Gly160Ser)
c.-69+2019G>A (n.-69+2019G>A)
10g.49611218G>CCA376718803CHAT,SLC18A3c.478G>C (p.Gly160Arg)
c.-69+2019G>C (n.-69+2019G>C)
10g.49611218G>TCA376718804CHAT,SLC18A3c.478G>T (p.Gly160Cys)
c.-69+2019G>T (n.-69+2019G>T)
10g.49611219G>ACA5496769CHAT,SLC18A3c.479G>A (p.Gly160Asp)
c.-69+2020G>A (n.-69+2020G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.49611219G>CCA376718807CHAT,SLC18A3c.479G>C (p.Gly160Ala)
c.-69+2020G>C (n.-69+2020G>C)
10g.49611219G=CA1908793146CHAT,SLC18A3c.479G= (p.Gly160=)
c.-69+2020G= (n.-69+2020G=)
10g.49611219G>TCA376718810CHAT,SLC18A3c.479G>T (p.Gly160Val)
c.-69+2020G>T (n.-69+2020G>T)
10g.49611219_49611220delinsTTCA2573145177CHAT,SLC18A3c.479_480delinsTT (p.Gly160Val)
c.-69+2020_-69+2021delinsTT (n.-69+2020_-69+2021delinsTT)
 ClinVar dbSNP
10g.49611220C>ACA469791526CHAT,SLC18A3c.480C>A (p.Gly160=)
c.-69+2021C>A (n.-69+2021C>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.49611220C=CA1908793149CHAT,SLC18A3c.480C= (p.Gly160=)
c.-69+2021C= (n.-69+2021C=)
10g.49611220C>GCA469791528CHAT,SLC18A3c.480C>G (p.Gly160=)
c.-69+2021C>G (n.-69+2021C>G)
 gnomAD v4
10g.49611220C>TCA469791527CHAT,SLC18A3c.480C>T (p.Gly160=)
c.-69+2021C>T (n.-69+2021C>T)
 COSMIC
10g.49611221G>ACA376718812CHAT,SLC18A3c.481G>A (p.Val161Ile)
c.-69+2022G>A (n.-69+2022G>A)
 dbSNP gnomAD v2 gnomAD v4 COSMIC
10g.49611221G>CCA376718816CHAT,SLC18A3c.481G>C (p.Val161Leu)
c.-69+2022G>C (n.-69+2022G>C)
10g.49611221G=CA1908793150CHAT,SLC18A3c.481G= (p.Val161=)
c.-69+2022G= (n.-69+2022G=)
10g.49611221G>TCA376718818CHAT,SLC18A3c.481G>T (p.Val161Phe)
c.-69+2022G>T (n.-69+2022G>T)
 dbSNP
10g.49611222T>ACA376718824CHAT,SLC18A3c.482T>A (p.Val161Asp)
c.-69+2023T>A (n.-69+2023T>A)
10g.49611222T>CCA376718822CHAT,SLC18A3c.482T>C (p.Val161Ala)
c.-69+2023T>C (n.-69+2023T>C)
10g.49611222T>GCA376718820CHAT,SLC18A3c.482T>G (p.Val161Gly)
c.-69+2023T>G (n.-69+2023T>G)
10g.49611223C>ACA469791539CHAT,SLC18A3c.483C>A (p.Val161=)
c.-69+2024C>A (n.-69+2024C>A)
 gnomAD v4
10g.49611223C>GCA469791543CHAT,SLC18A3c.483C>G (p.Val161=)
c.-69+2024C>G (n.-69+2024C>G)
10g.49611223C>TCA469791537CHAT,SLC18A3c.483C>T (p.Val161=)
c.-69+2024C>T (n.-69+2024C>T)
 COSMIC
10g.49611224A=CA1908793153CHAT,SLC18A3c.484A= (p.Met162=)
c.-69+2025A= (n.-69+2025A=)
10g.49611224A>CCA376718826CHAT,SLC18A3c.484A>C (p.Met162Leu)
c.-69+2025A>C (n.-69+2025A>C)
 dbSNP gnomAD v2 gnomAD v4
10g.49611224A>GCA376718828CHAT,SLC18A3c.484A>G (p.Met162Val)
c.-69+2025A>G (n.-69+2025A>G)
 dbSNP gnomAD v4
10g.49611224A>TCA376718830CHAT,SLC18A3c.484A>T (p.Met162Leu)
c.-69+2025A>T (n.-69+2025A>T)
10g.49611225T>ACA376718833CHAT,SLC18A3c.485T>A (p.Met162Lys)
c.-69+2026T>A (n.-69+2026T>A)
10g.49611225T>CCA376718835CHAT,SLC18A3c.485T>C (p.Met162Thr)
c.-69+2026T>C (n.-69+2026T>C)
 gnomAD v4
10g.49611225T>GCA376718837CHAT,SLC18A3c.485T>G (p.Met162Arg)
c.-69+2026T>G (n.-69+2026T>G)
10g.49611226G>ACA376718839CHAT,SLC18A3c.486G>A (p.Met162Ile)
c.-69+2027G>A (n.-69+2027G>A)
 dbSNP gnomAD v2 gnomAD v4
10g.49611226G>CCA376718840CHAT,SLC18A3c.486G>C (p.Met162Ile)
c.-69+2027G>C (n.-69+2027G>C)
10g.49611226G=CA1908793159CHAT,SLC18A3c.486G= (p.Met162=)
c.-69+2027G= (n.-69+2027G=)
10g.49611226G>TCA206621014CHAT,SLC18A3c.486G>T (p.Met162Ile)
c.-69+2027G>T (n.-69+2027G>T)
 dbSNP gnomAD v4
10g.49611227T>ACA376718844CHAT,SLC18A3c.487T>A (p.Phe163Ile)
c.-69+2028T>A (n.-69+2028T>A)
10g.49611227T>CCA376718847CHAT,SLC18A3c.487T>C (p.Phe163Leu)
c.-69+2028T>C (n.-69+2028T>C)
 gnomAD v4
10g.49611227T>GCA376718849CHAT,SLC18A3c.487T>G (p.Phe163Val)
c.-69+2028T>G (n.-69+2028T>G)
10g.49611228T>ACA376718856CHAT,SLC18A3c.488T>A (p.Phe163Tyr)
c.-69+2029T>A (n.-69+2029T>A)
10g.49611228T>CCA376718854CHAT,SLC18A3c.488T>C (p.Phe163Ser)
c.-69+2029T>C (n.-69+2029T>C)
10g.49611228T>GCA376718852CHAT,SLC18A3c.488T>G (p.Phe163Cys)
c.-69+2029T>G (n.-69+2029T>G)
10g.49611229C>ACA376718858CHAT,SLC18A3c.489C>A (p.Phe163Leu)
c.-69+2030C>A (n.-69+2030C>A)
 gnomAD v4
10g.49611229C=CA1908793160CHAT,SLC18A3c.489C= (p.Phe163=)
c.-69+2030C= (n.-69+2030C=)
10g.49611229C>GCA376718860CHAT,SLC18A3c.489C>G (p.Phe163Leu)
c.-69+2030C>G (n.-69+2030C>G)
10g.49611229C>TCA5496770CHAT,SLC18A3c.489C>T (p.Phe163=)
c.-69+2030C>T (n.-69+2030C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.49611230G>ACA376718863CHAT,SLC18A3c.490G>A (p.Ala164Thr)
c.-69+2031G>A (n.-69+2031G>A)
 dbSNP
10g.49611230G>CCA376718865CHAT,SLC18A3c.490G>C (p.Ala164Pro)
c.-69+2031G>C (n.-69+2031G>C)
 gnomAD v4
10g.49611230G=CA1908793163CHAT,SLC18A3c.490G= (p.Ala164=)
c.-69+2031G= (n.-69+2031G=)
10g.49611230G>TCA376718867CHAT,SLC18A3c.490G>T (p.Ala164Ser)
c.-69+2031G>T (n.-69+2031G>T)
 gnomAD v4
10g.49611231C>ACA376718870CHAT,SLC18A3c.491C>A (p.Ala164Asp)
c.-69+2032C>A (n.-69+2032C>A)
10g.49611231C>GCA376718872CHAT,SLC18A3c.491C>G (p.Ala164Gly)
c.-69+2032C>G (n.-69+2032C>G)
10g.49611231C>TCA376718884CHAT,SLC18A3c.491C>T (p.Ala164Val)
c.-69+2032C>T (n.-69+2032C>T)
10g.49611232C>ACA469791573CHAT,SLC18A3c.492C>A (p.Ala164=)
c.-69+2033C>A (n.-69+2033C>A)
10g.49611232C>GCA469791571CHAT,SLC18A3c.492C>G (p.Ala164=)
c.-69+2033C>G (n.-69+2033C>G)
10g.49611232C>TCA469791575CHAT,SLC18A3c.492C>T (p.Ala164=)
c.-69+2033C>T (n.-69+2033C>T)
10g.49611233T>ACA376718888CHAT,SLC18A3c.493T>A (p.Ser165Thr)
c.-69+2034T>A (n.-69+2034T>A)
10g.49611233T>CCA376718891CHAT,SLC18A3c.493T>C (p.Ser165Pro)
c.-69+2034T>C (n.-69+2034T>C)
10g.49611233T>GCA376718893CHAT,SLC18A3c.493T>G (p.Ser165Ala)
c.-69+2034T>G (n.-69+2034T>G)
10g.49611234C>ACA376718898CHAT,SLC18A3c.494C>A (p.Ser165Tyr)
c.-69+2035C>A (n.-69+2035C>A)
10g.49611234C>GCA376718897CHAT,SLC18A3c.494C>G (p.Ser165Cys)
c.-69+2035C>G (n.-69+2035C>G)
 COSMIC
10g.49611234C>TCA376718896CHAT,SLC18A3c.494C>T (p.Ser165Phe)
c.-69+2035C>T (n.-69+2035C>T)
10g.49611235T>ACA469791586CHAT,SLC18A3c.495T>A (p.Ser165=)
c.-69+2036T>A (n.-69+2036T>A)
10g.49611235T>CCA469791587CHAT,SLC18A3c.495T>C (p.Ser165=)
c.-69+2036T>C (n.-69+2036T>C)
10g.49611235T>GCA469791590CHAT,SLC18A3c.495T>G (p.Ser165=)
c.-69+2036T>G (n.-69+2036T>G)
10g.49611236A>CCA376718901CHAT,SLC18A3c.496A>C (p.Thr166Pro)
c.-69+2037A>C (n.-69+2037A>C)
10g.49611236A>GCA376718905CHAT,SLC18A3c.496A>G (p.Thr166Ala)
c.-69+2037A>G (n.-69+2037A>G)
10g.49611236A>TCA376718910CHAT,SLC18A3c.496A>T (p.Thr166Ser)
c.-69+2037A>T (n.-69+2037A>T)
10g.49611237C>ACA376718920CHAT,SLC18A3c.497C>A (p.Thr166Lys)
c.-69+2038C>A (n.-69+2038C>A)
10g.49611237C>GCA376718922CHAT,SLC18A3c.497C>G (p.Thr166Arg)
c.-69+2038C>G (n.-69+2038C>G)
10g.49611237C>TCA376718925CHAT,SLC18A3c.497C>T (p.Thr166Ile)
c.-69+2038C>T (n.-69+2038C>T)
10g.49611237_49611238insGTAGCA2609115320CHAT,SLC18A3c.497_498insGTAG (p.Val167Ter)
c.-69+2038_-69+2039insGTAG (n.-69+2038_-69+2039insGTAG)
 gnomAD v4
10g.49611238A=CA1908793171CHAT,SLC18A3c.498A= (p.Thr166=)
c.-69+2039A= (n.-69+2039A=)
10g.49611238A>CCA469791594CHAT,SLC18A3c.498A>C (p.Thr166=)
c.-69+2039A>C (n.-69+2039A>C)
 gnomAD v3 gnomAD v4
10g.49611238A>GCA5496771CHAT,SLC18A3c.498A>G (p.Thr166=)
c.-69+2039A>G (n.-69+2039A>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.49611238A>TCA469791593CHAT,SLC18A3c.498A>T (p.Thr166=)
c.-69+2039A>T (n.-69+2039A>T)
10g.49611239G>ACA376718931CHAT,SLC18A3c.499G>A (p.Val167Ile)
c.-69+2040G>A (n.-69+2040G>A)
 gnomAD v4
10g.49611239G>CCA376718936CHAT,SLC18A3c.499G>C (p.Val167Leu)
c.-69+2040G>C (n.-69+2040G>C)
10g.49611239G>TCA376718939CHAT,SLC18A3c.499G>T (p.Val167Phe)
c.-69+2040G>T (n.-69+2040G>T)
10g.49611240T>ACA376718940CHAT,SLC18A3c.500T>A (p.Val167Asp)
c.-69+2041T>A (n.-69+2041T>A)
10g.49611240T>CCA376718941CHAT,SLC18A3c.500T>C (p.Val167Ala)
c.-69+2041T>C (n.-69+2041T>C)
 gnomAD v4
10g.49611240T>GCA376718942CHAT,SLC18A3c.500T>G (p.Val167Gly)
c.-69+2041T>G (n.-69+2041T>G)
10g.49611241C>ACA469791602CHAT,SLC18A3c.501C>A (p.Val167=)
c.-69+2042C>A (n.-69+2042C>A)
10g.49611241C>GCA469791604CHAT,SLC18A3c.501C>G (p.Val167=)
c.-69+2042C>G (n.-69+2042C>G)
10g.49611241C>TCA469791603CHAT,SLC18A3c.501C>T (p.Val167=)
c.-69+2042C>T (n.-69+2042C>T)
10g.49611242C>ACA376718943CHAT,SLC18A3c.502C>A (p.Leu168Met)
c.-69+2043C>A (n.-69+2043C>A)
10g.49611242C>GCA376718945CHAT,SLC18A3c.502C>G (p.Leu168Val)
c.-69+2043C>G (n.-69+2043C>G)
10g.49611242C>TCA469791607CHAT,SLC18A3c.502C>T (p.Leu168=)
c.-69+2043C>T (n.-69+2043C>T)
10g.49611243T>ACA376718949CHAT,SLC18A3c.503T>A (p.Leu168Gln)
c.-69+2044T>A (n.-69+2044T>A)
10g.49611243T>CCA376718955CHAT,SLC18A3c.503T>C (p.Leu168Pro)
c.-69+2044T>C (n.-69+2044T>C)
10g.49611243T>GCA376718952CHAT,SLC18A3c.503T>G (p.Leu168Arg)
c.-69+2044T>G (n.-69+2044T>G)
10g.49611244G>ACA469791614CHAT,SLC18A3c.504G>A (p.Leu168=)
c.-69+2045G>A (n.-69+2045G>A)
10g.49611244G>CCA469791612CHAT,SLC18A3c.504G>C (p.Leu168=)
c.-69+2045G>C (n.-69+2045G>C)
10g.49611244G>TCA469791616CHAT,SLC18A3c.504G>T (p.Leu168=)
c.-69+2045G>T (n.-69+2045G>T)
 gnomAD v4
10g.49611245T>ACA376718960CHAT,SLC18A3c.505T>A (p.Phe169Ile)
c.-69+2046T>A (n.-69+2046T>A)
10g.49611245T>CCA376718965CHAT,SLC18A3c.505T>C (p.Phe169Leu)
c.-69+2046T>C (n.-69+2046T>C)
 dbSNP gnomAD v2 gnomAD v4
10g.49611245T>GCA376718962CHAT,SLC18A3c.505T>G (p.Phe169Val)
c.-69+2046T>G (n.-69+2046T>G)
10g.49611245T=CA1908793177CHAT,SLC18A3c.505T= (p.Phe169=)
c.-69+2046T= (n.-69+2046T=)
10g.49611246T>ACA376718967CHAT,SLC18A3c.506T>A (p.Phe169Tyr)
c.-69+2047T>A (n.-69+2047T>A)
10g.49611246T>CCA376718971CHAT,SLC18A3c.506T>C (p.Phe169Ser)
c.-69+2047T>C (n.-69+2047T>C)
10g.49611246T>GCA376718974CHAT,SLC18A3c.506T>G (p.Phe169Cys)
c.-69+2047T>G (n.-69+2047T>G)
10g.49611247C>ACA376718978CHAT,SLC18A3c.507C>A (p.Phe169Leu)
c.-69+2048C>A (n.-69+2048C>A)
10g.49611247C=CA1908793183CHAT,SLC18A3c.507C= (p.Phe169=)
c.-69+2048C= (n.-69+2048C=)
10g.49611247C>GCA376718980CHAT,SLC18A3c.507C>G (p.Phe169Leu)
c.-69+2048C>G (n.-69+2048C>G)
10g.49611247C>TCA5496772CHAT,SLC18A3c.507C>T (p.Phe169=)
c.-69+2048C>T (n.-69+2048C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.49611248G>ACA376718989CHAT,SLC18A3c.508G>A (p.Ala170Thr)
c.-69+2049G>A (n.-69+2049G>A)
 COSMIC
10g.49611248G>CCA376718993CHAT,SLC18A3c.508G>C (p.Ala170Pro)
c.-69+2049G>C (n.-69+2049G>C)
 gnomAD v4
10g.49611248G>TCA376718995CHAT,SLC18A3c.508G>T (p.Ala170Ser)
c.-69+2049G>T (n.-69+2049G>T)
10g.49611249C>ACA376719000CHAT,SLC18A3c.509C>A (p.Ala170Asp)
c.-69+2050C>A (n.-69+2050C>A)
10g.49611249C=CA1908793188CHAT,SLC18A3c.509C= (p.Ala170=)
c.-69+2050C= (n.-69+2050C=)
10g.49611249C>GCA376719002CHAT,SLC18A3c.509C>G (p.Ala170Gly)
c.-69+2050C>G (n.-69+2050C>G)
10g.49611249C>TCA376719006CHAT,SLC18A3c.509C>T (p.Ala170Val)
c.-69+2050C>T (n.-69+2050C>T)
 dbSNP gnomAD v3 gnomAD v4
10g.49611250C>ACA5496773CHAT,SLC18A3c.510C>A (p.Ala170=)
c.-69+2051C>A (n.-69+2051C>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
10g.49611250C=CA1908793191CHAT,SLC18A3c.510C= (p.Ala170=)
c.-69+2051C= (n.-69+2051C=)
10g.49611250C>GCA469791636CHAT,SLC18A3c.510C>G (p.Ala170=)
c.-69+2051C>G (n.-69+2051C>G)
10g.49611250C>TCA469791633CHAT,SLC18A3c.510C>T (p.Ala170=)
c.-69+2051C>T (n.-69+2051C>T)
 gnomAD v4
10g.49611251T>ACA376719011CHAT,SLC18A3c.511T>A (p.Phe171Ile)
c.-69+2052T>A (n.-69+2052T>A)
10g.49611251T>CCA5496774CHAT,SLC18A3c.511T>C (p.Phe171Leu)
c.-69+2052T>C (n.-69+2052T>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.49611251T>GCA376719015CHAT,SLC18A3c.511T>G (p.Phe171Val)
c.-69+2052T>G (n.-69+2052T>G)
10g.49611251T=CA1908793194CHAT,SLC18A3c.511T= (p.Phe171=)
c.-69+2052T= (n.-69+2052T=)
10g.49611252T>ACA376719019CHAT,SLC18A3c.512T>A (p.Phe171Tyr)
c.-69+2053T>A (n.-69+2053T>A)
10g.49611252T>CCA376719023CHAT,SLC18A3c.512T>C (p.Phe171Ser)
c.-69+2053T>C (n.-69+2053T>C)
10g.49611252T>GCA376719025CHAT,SLC18A3c.512T>G (p.Phe171Cys)
c.-69+2053T>G (n.-69+2053T>G)
10g.49611253C>ACA5496776CHAT,SLC18A3c.513C>A (p.Phe171Leu)
c.-69+2054C>A (n.-69+2054C>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.49611253C=CA1908793198CHAT,SLC18A3c.513C= (p.Phe171=)
c.-69+2054C= (n.-69+2054C=)
10g.49611253C>GCA376719031CHAT,SLC18A3c.513C>G (p.Phe171Leu)
c.-69+2054C>G (n.-69+2054C>G)
10g.49611253C>TCA5496775CHAT,SLC18A3c.513C>T (p.Phe171=)
c.-69+2054C>T (n.-69+2054C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.49611254G>ACA376719037CHAT,SLC18A3c.514G>A (p.Ala172Thr)
c.-69+2055G>A (n.-69+2055G>A)
 COSMIC
10g.49611254G>CCA206621033CHAT,SLC18A3c.514G>C (p.Ala172Pro)
c.-69+2055G>C (n.-69+2055G>C)
 dbSNP gnomAD v4
10g.49611254G=CA1908793202CHAT,SLC18A3c.514G= (p.Ala172=)
c.-69+2055G= (n.-69+2055G=)
10g.49611254G>TCA376719044CHAT,SLC18A3c.514G>T (p.Ala172Ser)
c.-69+2055G>T (n.-69+2055G>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.49611255C>ACA376719056CHAT,SLC18A3c.515C>A (p.Ala172Asp)
c.-69+2056C>A (n.-69+2056C>A)
10g.49611255C=CA1908793206CHAT,SLC18A3c.515C= (p.Ala172=)
c.-69+2056C= (n.-69+2056C=)
10g.49611255C>GCA376719049CHAT,SLC18A3c.515C>G (p.Ala172Gly)
c.-69+2056C>G (n.-69+2056C>G)
10g.49611255C>TCA5496777CHAT,SLC18A3c.515C>T (p.Ala172Val)
c.-69+2056C>T (n.-69+2056C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
10g.49611256C>ACA469791647CHAT,SLC18A3c.516C>A (p.Ala172=)
c.-69+2057C>A (n.-69+2057C>A)
 dbSNP gnomAD v2 gnomAD v4
10g.49611256C=CA1908793210CHAT,SLC18A3c.516C= (p.Ala172=)
c.-69+2057C= (n.-69+2057C=)
10g.49611256C>GCA469791645CHAT,SLC18A3c.516C>G (p.Ala172=)
c.-69+2057C>G (n.-69+2057C>G)
 dbSNP gnomAD v2 gnomAD v4
10g.49611256C>TCA469791648CHAT,SLC18A3c.516C>T (p.Ala172=)
c.-69+2057C>T (n.-69+2057C>T)
 gnomAD v4
10g.49611257G>ACA376719065CHAT,SLC18A3c.517G>A (p.Glu173Lys)
c.-69+2058G>A (n.-69+2058G>A)
 gnomAD v4
10g.49611257G>CCA376719060CHAT,SLC18A3c.517G>C (p.Glu173Gln)
c.-69+2058G>C (n.-69+2058G>C)
 gnomAD v4
10g.49611257G>TCA376719062CHAT,SLC18A3c.517G>T (p.Glu173Ter)
c.-69+2058G>T (n.-69+2058G>T)
10g.49611258A>CCA376719070CHAT,SLC18A3c.518A>C (p.Glu173Ala)
c.-69+2059A>C (n.-69+2059A>C)
10g.49611258A>GCA376719071CHAT,SLC18A3c.518A>G (p.Glu173Gly)
c.-69+2059A>G (n.-69+2059A>G)
10g.49611258A>TCA376719074CHAT,SLC18A3c.518A>T (p.Glu173Val)
c.-69+2059A>T (n.-69+2059A>T)
10g.49611259G>ACA5496778CHAT,SLC18A3c.519G>A (p.Glu173=)
c.-69+2060G>A (n.-69+2060G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.49611259G>CCA376719082CHAT,SLC18A3c.519G>C (p.Glu173Asp)
c.-69+2060G>C (n.-69+2060G>C)
10g.49611259G=CA1908793217CHAT,SLC18A3c.519G= (p.Glu173=)
c.-69+2060G= (n.-69+2060G=)
10g.49611259G>TCA376719085CHAT,SLC18A3c.519G>T (p.Glu173Asp)
c.-69+2060G>T (n.-69+2060G>T)
10g.49611260G>ACA376719088CHAT,SLC18A3c.520G>A (p.Asp174Asn)
c.-69+2061G>A (n.-69+2061G>A)
 gnomAD v4 COSMIC
10g.49611260G>CCA376719090CHAT,SLC18A3c.520G>C (p.Asp174His)
c.-69+2061G>C (n.-69+2061G>C)
 dbSNP
10g.49611260G=CA1908793221CHAT,SLC18A3c.520G= (p.Asp174=)
c.-69+2061G= (n.-69+2061G=)
10g.49611260G>TCA376719094CHAT,SLC18A3c.520G>T (p.Asp174Tyr)
c.-69+2061G>T (n.-69+2061G>T)
 gnomAD v4
10g.49611261A=CA1908793223CHAT,SLC18A3c.521A= (p.Asp174=)
c.-69+2062A= (n.-69+2062A=)
10g.49611261A>CCA376719097CHAT,SLC18A3c.521A>C (p.Asp174Ala)
c.-69+2062A>C (n.-69+2062A>C)
10g.49611261A>GCA376719100CHAT,SLC18A3c.521A>G (p.Asp174Gly)
c.-69+2062A>G (n.-69+2062A>G)
10g.49611261A>TCA376719103CHAT,SLC18A3c.521A>T (p.Asp174Val)
c.-69+2062A>T (n.-69+2062A>T)
 dbSNP gnomAD v3 gnomAD v4
10g.49611262C>ACA376719109CHAT,SLC18A3c.522C>A (p.Asp174Glu)
c.-69+2063C>A (n.-69+2063C>A)
10g.49611262C>GCA376719112CHAT,SLC18A3c.522C>G (p.Asp174Glu)
c.-69+2063C>G (n.-69+2063C>G)
10g.49611262C>TCA469791668CHAT,SLC18A3c.522C>T (p.Asp174=)
c.-69+2063C>T (n.-69+2063C>T)
10g.49611263T>ACA376719115CHAT,SLC18A3c.523T>A (p.Tyr175Asn)
c.-69+2064T>A (n.-69+2064T>A)
10g.49611263T>CCA376719118CHAT,SLC18A3c.523T>C (p.Tyr175His)
c.-69+2064T>C (n.-69+2064T>C)
10g.49611263T>GCA376719121CHAT,SLC18A3c.523T>G (p.Tyr175Asp)
c.-69+2064T>G (n.-69+2064T>G)
10g.49611264A=CA1908793228CHAT,SLC18A3c.524A= (p.Tyr175=)
c.-69+2065A= (n.-69+2065A=)
10g.49611264A>CCA376719125CHAT,SLC18A3c.524A>C (p.Tyr175Ser)
c.-69+2065A>C (n.-69+2065A>C)
10g.49611264A>GCA206621043CHAT,SLC18A3c.524A>G (p.Tyr175Cys)
c.-69+2065A>G (n.-69+2065A>G)
 ClinVar dbSNP gnomAD v2 gnomAD v4
10g.49611264A>TCA376719130CHAT,SLC18A3c.524A>T (p.Tyr175Phe)
c.-69+2065A>T (n.-69+2065A>T)
10g.49611265C>ACA376719134CHAT,SLC18A3c.525C>A (p.Tyr175Ter)
c.-69+2066C>A (n.-69+2066C>A)
10g.49611265C=CA1908793231CHAT,SLC18A3c.525C= (p.Tyr175=)
c.-69+2066C= (n.-69+2066C=)
10g.49611265C>GCA376719137CHAT,SLC18A3c.525C>G (p.Tyr175Ter)
c.-69+2066C>G (n.-69+2066C>G)
10g.49611265C>TCA5496779CHAT,SLC18A3c.525C>T (p.Tyr175=)
c.-69+2066C>T (n.-69+2066C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.49611266G>ACA376719144CHAT,SLC18A3c.526G>A (p.Ala176Thr)
c.-69+2067G>A (n.-69+2067G>A)
 dbSNP gnomAD v4
10g.49611266G>CCA376719146CHAT,SLC18A3c.526G>C (p.Ala176Pro)
c.-69+2067G>C (n.-69+2067G>C)
10g.49611266G=CA1908793233CHAT,SLC18A3c.526G= (p.Ala176=)
c.-69+2067G= (n.-69+2067G=)
10g.49611266G>TCA376719148CHAT,SLC18A3c.526G>T (p.Ala176Ser)
c.-69+2067G>T (n.-69+2067G>T)
10g.49611267C>ACA376719154CHAT,SLC18A3c.527C>A (p.Ala176Asp)
c.-69+2068C>A (n.-69+2068C>A)
10g.49611267C>GCA376719157CHAT,SLC18A3c.527C>G (p.Ala176Gly)
c.-69+2068C>G (n.-69+2068C>G)
10g.49611267C>TCA376719152CHAT,SLC18A3c.527C>T (p.Ala176Val)
c.-69+2068C>T (n.-69+2068C>T)
10g.49611268C>ACA469791686CHAT,SLC18A3c.528C>A (p.Ala176=)
c.-69+2069C>A (n.-69+2069C>A)
10g.49611268C=CA1908793236CHAT,SLC18A3c.528C= (p.Ala176=)
c.-69+2069C= (n.-69+2069C=)
10g.49611268C>GCA469791683CHAT,SLC18A3c.528C>G (p.Ala176=)
c.-69+2069C>G (n.-69+2069C>G)
10g.49611268C>TCA469791684CHAT,SLC18A3c.528C>T (p.Ala176=)
c.-69+2069C>T (n.-69+2069C>T)
 dbSNP gnomAD v2
10g.49611269delCA2609115411CHAT,SLC18A3c.529del (p.Thr177ArgfsTer21)
c.-69+2070del (n.-69+2070del)
 gnomAD v4
10g.49611269A>CCA376719162CHAT,SLC18A3c.529A>C (p.Thr177Pro)
c.-69+2070A>C (n.-69+2070A>C)
10g.49611269A>GCA376719168CHAT,SLC18A3c.529A>G (p.Thr177Ala)
c.-69+2070A>G (n.-69+2070A>G)
 gnomAD v4
10g.49611269A>TCA376719164CHAT,SLC18A3c.529A>T (p.Thr177Ser)
c.-69+2070A>T (n.-69+2070A>T)
10g.49611270C>ACA5496781CHAT,SLC18A3c.530C>A (p.Thr177Lys)
c.-69+2071C>A (n.-69+2071C>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.49611270C=CA1908793239CHAT,SLC18A3c.530C= (p.Thr177=)
c.-69+2071C= (n.-69+2071C=)
10g.49611270C>GCA376719174CHAT,SLC18A3c.530C>G (p.Thr177Arg)
c.-69+2071C>G (n.-69+2071C>G)
10g.49611270C>TCA5496780CHAT,SLC18A3c.530C>T (p.Thr177Met)
c.-69+2071C>T (n.-69+2071C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.49611271G>ACA469791694CHAT,SLC18A3c.531G>A (p.Thr177=)
c.-69+2072G>A (n.-69+2072G>A)
 gnomAD v4 COSMIC
10g.49611271G>CCA469791701CHAT,SLC18A3c.531G>C (p.Thr177=)
c.-69+2072G>C (n.-69+2072G>C)
 gnomAD v4
10g.49611271G=CA1908793241CHAT,SLC18A3c.531G= (p.Thr177=)
c.-69+2072G= (n.-69+2072G=)
10g.49611271G>TCA469791700CHAT,SLC18A3c.531G>T (p.Thr177=)
c.-69+2072G>T (n.-69+2072G>T)
 dbSNP gnomAD v2 gnomAD v4
10g.49611272C>ACA376719178CHAT,SLC18A3c.532C>A (p.Leu178Met)
c.-69+2073C>A (n.-69+2073C>A)
10g.49611272C>GCA376719181CHAT,SLC18A3c.532C>G (p.Leu178Val)
c.-69+2073C>G (n.-69+2073C>G)
10g.49611272C>TCA469791704CHAT,SLC18A3c.532C>T (p.Leu178=)
c.-69+2073C>T (n.-69+2073C>T)
10g.49611273T>ACA376719186CHAT,SLC18A3c.533T>A (p.Leu178Gln)
c.-69+2074T>A (n.-69+2074T>A)
10g.49611273T>CCA376719189CHAT,SLC18A3c.533T>C (p.Leu178Pro)
c.-69+2074T>C (n.-69+2074T>C)
10g.49611273T>GCA376719190CHAT,SLC18A3c.533T>G (p.Leu178Arg)
c.-69+2074T>G (n.-69+2074T>G)
10g.49611274G>ACA5496782CHAT,SLC18A3c.534G>A (p.Leu178=)
c.-69+2075G>A (n.-69+2075G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.49611274G>CCA469791709CHAT,SLC18A3c.534G>C (p.Leu178=)
c.-69+2075G>C (n.-69+2075G>C)
 ClinVar dbSNP gnomAD v4
10g.49611274G=CA1908793243CHAT,SLC18A3c.534G= (p.Leu178=)
c.-69+2075G= (n.-69+2075G=)
10g.49611274G>TCA469791712CHAT,SLC18A3c.534G>T (p.Leu178=)
c.-69+2075G>T (n.-69+2075G>T)
10g.49611275T>ACA376719196CHAT,SLC18A3c.535T>A (p.Phe179Ile)
c.-69+2076T>A (n.-69+2076T>A)
10g.49611275T>CCA376719199CHAT,SLC18A3c.535T>C (p.Phe179Leu)
c.-69+2076T>C (n.-69+2076T>C)
10g.49611275T>GCA376719202CHAT,SLC18A3c.535T>G (p.Phe179Val)
c.-69+2076T>G (n.-69+2076T>G)

Number of alleles fetched