Chr Mutation (hg38) CAid Gene Transcript Linkouts
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)
10g.49611276T>ACA376719207CHAT,SLC18A3c.536T>A (p.Phe179Tyr)
c.-69+2077T>A (n.-69+2077T>A)
10g.49611276T>CCA376719213CHAT,SLC18A3c.536T>C (p.Phe179Ser)
c.-69+2077T>C (n.-69+2077T>C)
10g.49611276T>GCA376719209CHAT,SLC18A3c.536T>G (p.Phe179Cys)
c.-69+2077T>G (n.-69+2077T>G)
10g.49611277C>ACA376719216CHAT,SLC18A3c.537C>A (p.Phe179Leu)
c.-69+2078C>A (n.-69+2078C>A)
 gnomAD v4
10g.49611277C>GCA376719218CHAT,SLC18A3c.537C>G (p.Phe179Leu)
c.-69+2078C>G (n.-69+2078C>G)
10g.49611277C>TCA469791723CHAT,SLC18A3c.537C>T (p.Phe179=)
c.-69+2078C>T (n.-69+2078C>T)
 gnomAD v4 COSMIC
10g.49611278G>ACA376719223CHAT,SLC18A3c.538G>A (p.Ala180Thr)
c.-69+2079G>A (n.-69+2079G>A)
10g.49611278G>CCA376719225CHAT,SLC18A3c.538G>C (p.Ala180Pro)
c.-69+2079G>C (n.-69+2079G>C)
10g.49611278G>TCA376719227CHAT,SLC18A3c.538G>T (p.Ala180Ser)
c.-69+2079G>T (n.-69+2079G>T)
 gnomAD v4
10g.49611279C>ACA376719231CHAT,SLC18A3c.539C>A (p.Ala180Glu)
c.-69+2080C>A (n.-69+2080C>A)
10g.49611279C=CA1908793252CHAT,SLC18A3c.539C= (p.Ala180=)
c.-69+2080C= (n.-69+2080C=)
10g.49611279C>GCA5496783CHAT,SLC18A3c.539C>G (p.Ala180Gly)
c.-69+2080C>G (n.-69+2080C>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.49611279C>TCA376719235CHAT,SLC18A3c.539C>T (p.Ala180Val)
c.-69+2080C>T (n.-69+2080C>T)
 COSMIC
10g.49611280G>ACA469791730CHAT,SLC18A3c.540G>A (p.Ala180=)
c.-69+2081G>A (n.-69+2081G>A)
10g.49611280G>CCA5496784CHAT,SLC18A3c.540G>C (p.Ala180=)
c.-69+2081G>C (n.-69+2081G>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.49611280G=CA1908793255CHAT,SLC18A3c.540G= (p.Ala180=)
c.-69+2081G= (n.-69+2081G=)
10g.49611280G>TCA469791732CHAT,SLC18A3c.540G>T (p.Ala180=)
c.-69+2081G>T (n.-69+2081G>T)
 gnomAD v4
10g.49611281G>ACA376719246CHAT,SLC18A3c.541G>A (p.Ala181Thr)
c.-69+2082G>A (n.-69+2082G>A)
10g.49611281G>CCA376719244CHAT,SLC18A3c.541G>C (p.Ala181Pro)
c.-69+2082G>C (n.-69+2082G>C)
10g.49611281G>TCA376719241CHAT,SLC18A3c.541G>T (p.Ala181Ser)
c.-69+2082G>T (n.-69+2082G>T)
 gnomAD v4
10g.49611282C>ACA376719249CHAT,SLC18A3c.542C>A (p.Ala181Glu)
c.-69+2083C>A (n.-69+2083C>A)
 gnomAD v4
10g.49611282C>GCA376719251CHAT,SLC18A3c.542C>G (p.Ala181Gly)
c.-69+2083C>G (n.-69+2083C>G)
10g.49611282C>TCA376719257CHAT,SLC18A3c.542C>T (p.Ala181Val)
c.-69+2083C>T (n.-69+2083C>T)
 gnomAD v4
10g.49611283G>ACA469791739CHAT,SLC18A3c.543G>A (p.Ala181=)
c.-69+2084G>A (n.-69+2084G>A)
 gnomAD v4
10g.49611283G>CCA469791741CHAT,SLC18A3c.543G>C (p.Ala181=)
c.-69+2084G>C (n.-69+2084G>C)
10g.49611283G=CA1908793259CHAT,SLC18A3c.543G= (p.Ala181=)
c.-69+2084G= (n.-69+2084G=)
10g.49611283G>TCA5496785CHAT,SLC18A3c.543G>T (p.Ala181=)
c.-69+2084G>T (n.-69+2084G>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.49611284C>ACA376719263CHAT,SLC18A3c.544C>A (p.Arg182Ser)
c.-69+2085C>A (n.-69+2085C>A)
 gnomAD v4
10g.49611284C>GCA376719266CHAT,SLC18A3c.544C>G (p.Arg182Gly)
c.-69+2085C>G (n.-69+2085C>G)
10g.49611284C>TCA376719268CHAT,SLC18A3c.544C>T (p.Arg182Cys)
c.-69+2085C>T (n.-69+2085C>T)
 gnomAD v4 COSMIC
10g.49611285G>ACA376719273CHAT,SLC18A3c.545G>A (p.Arg182His)
c.-69+2086G>A (n.-69+2086G>A)
 dbSNP gnomAD v2 gnomAD v4
10g.49611285G>CCA376719274CHAT,SLC18A3c.545G>C (p.Arg182Pro)
c.-69+2086G>C (n.-69+2086G>C)
10g.49611285G=CA1908793260CHAT,SLC18A3c.545G= (p.Arg182=)
c.-69+2086G= (n.-69+2086G=)
10g.49611285G>TCA376719278CHAT,SLC18A3c.545G>T (p.Arg182Leu)
c.-69+2086G>T (n.-69+2086G>T)
 gnomAD v4
10g.49611286C>ACA469791748CHAT,SLC18A3c.546C>A (p.Arg182=)
c.-69+2087C>A (n.-69+2087C>A)
10g.49611286C>GCA469791750CHAT,SLC18A3c.546C>G (p.Arg182=)
c.-69+2087C>G (n.-69+2087C>G)
10g.49611286C>TCA469791747CHAT,SLC18A3c.546C>T (p.Arg182=)
c.-69+2087C>T (n.-69+2087C>T)
 gnomAD v4
10g.49611287A=CA1908793263CHAT,SLC18A3c.547A= (p.Ser183=)
c.-69+2088A= (n.-69+2088A=)
10g.49611287A>CCA376719281CHAT,SLC18A3c.547A>C (p.Ser183Arg)
c.-69+2088A>C (n.-69+2088A>C)
10g.49611287A>GCA376719284CHAT,SLC18A3c.547A>G (p.Ser183Gly)
c.-69+2088A>G (n.-69+2088A>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.49611287A>TCA376719286CHAT,SLC18A3c.547A>T (p.Ser183Cys)
c.-69+2088A>T (n.-69+2088A>T)
10g.49611288G>ACA376719290CHAT,SLC18A3c.548G>A (p.Ser183Asn)
c.-69+2089G>A (n.-69+2089G>A)
10g.49611288G>CCA376719297CHAT,SLC18A3c.548G>C (p.Ser183Thr)
c.-69+2089G>C (n.-69+2089G>C)
10g.49611288G>TCA376719294CHAT,SLC18A3c.548G>T (p.Ser183Ile)
c.-69+2089G>T (n.-69+2089G>T)
 gnomAD v4
10g.49611289C>ACA376719299CHAT,SLC18A3c.549C>A (p.Ser183Arg)
c.-69+2090C>A (n.-69+2090C>A)
10g.49611289C=CA1908793268CHAT,SLC18A3c.549C= (p.Ser183=)
c.-69+2090C= (n.-69+2090C=)
10g.49611289C>GCA376719302CHAT,SLC18A3c.549C>G (p.Ser183Arg)
c.-69+2090C>G (n.-69+2090C>G)
10g.49611289C>TCA5496786CHAT,SLC18A3c.549C>T (p.Ser183=)
c.-69+2090C>T (n.-69+2090C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.49611290delCA2574545084CHAT,SLC18A3c.550del (p.Leu184CysfsTer14)
c.-69+2091del (n.-69+2091del)
10g.49611290C>ACA376719308CHAT,SLC18A3c.550C>A (p.Leu184Met)
c.-69+2091C>A (n.-69+2091C>A)
10g.49611290C>GCA376719310CHAT,SLC18A3c.550C>G (p.Leu184Val)
c.-69+2091C>G (n.-69+2091C>G)
10g.49611290C>TCA469791264CHAT,SLC18A3c.550C>T (p.Leu184=)
c.-69+2091C>T (n.-69+2091C>T)
10g.49611291T>ACA376719314CHAT,SLC18A3c.551T>A (p.Leu184Gln)
c.-69+2092T>A (n.-69+2092T>A)
10g.49611291T>CCA376719316CHAT,SLC18A3c.551T>C (p.Leu184Pro)
c.-69+2092T>C (n.-69+2092T>C)
 gnomAD v4
10g.49611291T>GCA5496787CHAT,SLC18A3c.551T>G (p.Leu184Arg)
c.-69+2092T>G (n.-69+2092T>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.49611291T=CA1908793273CHAT,SLC18A3c.551T= (p.Leu184=)
c.-69+2092T= (n.-69+2092T=)
10g.49611292G>ACA469791268CHAT,SLC18A3c.552G>A (p.Leu184=)
c.-69+2093G>A (n.-69+2093G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.49611292G>CCA469791270CHAT,SLC18A3c.552G>C (p.Leu184=)
c.-69+2093G>C (n.-69+2093G>C)
10g.49611292G=CA1908793277CHAT,SLC18A3c.552G= (p.Leu184=)
c.-69+2093G= (n.-69+2093G=)
10g.49611292G>TCA469791269CHAT,SLC18A3c.552G>T (p.Leu184=)
c.-69+2093G>T (n.-69+2093G>T)
10g.49611293C>ACA376719322CHAT,SLC18A3c.553C>A (p.Gln185Lys)
c.-69+2094C>A (n.-69+2094C>A)
 gnomAD v4
10g.49611293C>GCA376719324CHAT,SLC18A3c.553C>G (p.Gln185Glu)
c.-69+2094C>G (n.-69+2094C>G)
10g.49611293C>TCA376719327CHAT,SLC18A3c.553C>T (p.Gln185Ter)
c.-69+2094C>T (n.-69+2094C>T)
10g.49611294A>CCA376719334CHAT,SLC18A3c.554A>C (p.Gln185Pro)
c.-69+2095A>C (n.-69+2095A>C)
10g.49611294A>GCA376719337CHAT,SLC18A3c.554A>G (p.Gln185Arg)
c.-69+2095A>G (n.-69+2095A>G)
 gnomAD v4
10g.49611294A>TCA376719333CHAT,SLC18A3c.554A>T (p.Gln185Leu)
c.-69+2095A>T (n.-69+2095A>T)
10g.49611295G>ACA469791273CHAT,SLC18A3c.555G>A (p.Gln185=)
c.-69+2096G>A (n.-69+2096G>A)
 dbSNP gnomAD v2 gnomAD v4
10g.49611295G>CCA376719343CHAT,SLC18A3c.555G>C (p.Gln185His)
c.-69+2096G>C (n.-69+2096G>C)
10g.49611295G=CA1908793281CHAT,SLC18A3c.555G= (p.Gln185=)
c.-69+2096G= (n.-69+2096G=)
10g.49611295G>TCA376719341CHAT,SLC18A3c.555G>T (p.Gln185His)
c.-69+2096G>T (n.-69+2096G>T)
 gnomAD v4
10g.49611296G>ACA376719356CHAT,SLC18A3c.556G>A (p.Gly186Ser)
c.-69+2097G>A (n.-69+2097G>A)
 gnomAD v4
10g.49611296G>CCA376719348CHAT,SLC18A3c.556G>C (p.Gly186Arg)
c.-69+2097G>C (n.-69+2097G>C)
10g.49611296G>TCA376719352CHAT,SLC18A3c.556G>T (p.Gly186Cys)
c.-69+2097G>T (n.-69+2097G>T)
 gnomAD v4
10g.49611297G>ACA376719360CHAT,SLC18A3c.557G>A (p.Gly186Asp)
c.-69+2098G>A (n.-69+2098G>A)
10g.49611297G>CCA16042221CHAT,SLC18A3c.557G>C (p.Gly186Ala)
c.-69+2098G>C (n.-69+2098G>C)
 ClinVar dbSNP gnomAD v4
10g.49611297G=CA1908793289CHAT,SLC18A3c.557G= (p.Gly186=)
c.-69+2098G= (n.-69+2098G=)
10g.49611297G>TCA376719363CHAT,SLC18A3c.557G>T (p.Gly186Val)
c.-69+2098G>T (n.-69+2098G>T)
 gnomAD v4
10g.49611298C>ACA469791280CHAT,SLC18A3c.558C>A (p.Gly186=)
c.-69+2099C>A (n.-69+2099C>A)
10g.49611298C>GCA469791279CHAT,SLC18A3c.558C>G (p.Gly186=)
c.-69+2099C>G (n.-69+2099C>G)
10g.49611298C>TCA469791281CHAT,SLC18A3c.558C>T (p.Gly186=)
c.-69+2099C>T (n.-69+2099C>T)
 gnomAD v4
10g.49611299C>ACA376719366CHAT,SLC18A3c.559C>A (p.Leu187Met)
c.-69+2100C>A (n.-69+2100C>A)
 COSMIC
10g.49611299C>GCA376719371CHAT,SLC18A3c.559C>G (p.Leu187Val)
c.-69+2100C>G (n.-69+2100C>G)
10g.49611299C>TCA469791283CHAT,SLC18A3c.559C>T (p.Leu187=)
c.-69+2100C>T (n.-69+2100C>T)
 gnomAD v4
10g.49611300T>ACA376719375CHAT,SLC18A3c.560T>A (p.Leu187Gln)
c.-69+2101T>A (n.-69+2101T>A)
10g.49611300T>CCA376719377CHAT,SLC18A3c.560T>C (p.Leu187Pro)
c.-69+2101T>C (n.-69+2101T>C)
10g.49611300T>GCA376719381CHAT,SLC18A3c.560T>G (p.Leu187Arg)
c.-69+2101T>G (n.-69+2101T>G)
10g.49611301G>ACA469791290CHAT,SLC18A3c.561G>A (p.Leu187=)
c.-69+2102G>A (n.-69+2102G>A)
10g.49611301G>CCA469791291CHAT,SLC18A3c.561G>C (p.Leu187=)
c.-69+2102G>C (n.-69+2102G>C)
 COSMIC
10g.49611301G>TCA469791289CHAT,SLC18A3c.561G>T (p.Leu187=)
c.-69+2102G>T (n.-69+2102G>T)
10g.49611302G>ACA376719391CHAT,SLC18A3c.562G>A (p.Gly188Ser)
c.-69+2103G>A (n.-69+2103G>A)
 dbSNP gnomAD v2 gnomAD v4
10g.49611302G>CCA5496788CHAT,SLC18A3c.562G>C (p.Gly188Arg)
c.-69+2103G>C (n.-69+2103G>C)
 dbSNP ExAC gnomAD v2
10g.49611302G=CA1908793302CHAT,SLC18A3c.562G= (p.Gly188=)
c.-69+2103G= (n.-69+2103G=)
10g.49611302G>TCA376719385CHAT,SLC18A3c.562G>T (p.Gly188Cys)
c.-69+2103G>T (n.-69+2103G>T)
 gnomAD v4
10g.49611303G>ACA376719393CHAT,SLC18A3c.563G>A (p.Gly188Asp)
c.-69+2104G>A (n.-69+2104G>A)
 gnomAD v4
10g.49611303G>CCA376719397CHAT,SLC18A3c.563G>C (p.Gly188Ala)
c.-69+2104G>C (n.-69+2104G>C)
10g.49611303G=CA1908793306CHAT,SLC18A3c.563G= (p.Gly188=)
c.-69+2104G= (n.-69+2104G=)
10g.49611303G>TCA376719401CHAT,SLC18A3c.563G>T (p.Gly188Val)
c.-69+2104G>T (n.-69+2104G>T)
 dbSNP gnomAD v2 gnomAD v4
10g.49611305_49611309delCA2574545085CHAT,SLC18A3c.565_569del (p.Ser189LeufsTer13)
c.-69+2106_-69+2110del (n.-69+2106_-69+2110del)
10g.49611304C>ACA469791298CHAT,SLC18A3c.564C>A (p.Gly188=)
c.-69+2105C>A (n.-69+2105C>A)
10g.49611304C>GCA469791299CHAT,SLC18A3c.564C>G (p.Gly188=)
c.-69+2105C>G (n.-69+2105C>G)
10g.49611304C>TCA469791297CHAT,SLC18A3c.564C>T (p.Gly188=)
c.-69+2105C>T (n.-69+2105C>T)
10g.49611305T>ACA376719403CHAT,SLC18A3c.565T>A (p.Ser189Thr)
c.-69+2106T>A (n.-69+2106T>A)
10g.49611305T>CCA376719404CHAT,SLC18A3c.565T>C (p.Ser189Pro)
c.-69+2106T>C (n.-69+2106T>C)
10g.49611305T>GCA376719407CHAT,SLC18A3c.565T>G (p.Ser189Ala)
c.-69+2106T>G (n.-69+2106T>G)
10g.49611306C>ACA376719409CHAT,SLC18A3c.566C>A (p.Ser189Ter)
c.-69+2107C>A (n.-69+2107C>A)
10g.49611306C=CA1908793311CHAT,SLC18A3c.566C= (p.Ser189=)
c.-69+2107C= (n.-69+2107C=)
10g.49611306C>GCA376719412CHAT,SLC18A3c.566C>G (p.Ser189Ter)
c.-69+2107C>G (n.-69+2107C>G)
10g.49611306C>TCA376719414CHAT,SLC18A3c.566C>T (p.Ser189Leu)
c.-69+2107C>T (n.-69+2107C>T)
 dbSNP gnomAD v2 gnomAD v4
10g.49611307A>CCA469791306CHAT,SLC18A3c.567A>C (p.Ser189=)
c.-69+2108A>C (n.-69+2108A>C)
10g.49611307A>GCA469791304CHAT,SLC18A3c.567A>G (p.Ser189=)
c.-69+2108A>G (n.-69+2108A>G)
10g.49611307A>TCA469791305CHAT,SLC18A3c.567A>T (p.Ser189=)
c.-69+2108A>T (n.-69+2108A>T)
10g.49611308G>ACA376719418CHAT,SLC18A3c.568G>A (p.Ala190Thr)
c.-69+2109G>A (n.-69+2109G>A)
10g.49611308G>CCA376719421CHAT,SLC18A3c.568G>C (p.Ala190Pro)
c.-69+2109G>C (n.-69+2109G>C)
10g.49611308G>TCA376719423CHAT,SLC18A3c.568G>T (p.Ala190Ser)
c.-69+2109G>T (n.-69+2109G>T)
 gnomAD v4
10g.49611309C>ACA376719430CHAT,SLC18A3c.569C>A (p.Ala190Asp)
c.-69+2110C>A (n.-69+2110C>A)
10g.49611309C>GCA376719433CHAT,SLC18A3c.569C>G (p.Ala190Gly)
c.-69+2110C>G (n.-69+2110C>G)
 dbSNP
10g.49611309C>TCA376719427CHAT,SLC18A3c.569C>T (p.Ala190Val)
c.-69+2110C>T (n.-69+2110C>T)
 gnomAD v4
10g.49611310C>ACA469791311CHAT,SLC18A3c.570C>A (p.Ala190=)
c.-69+2111C>A (n.-69+2111C>A)
10g.49611310C=CA1908793316CHAT,SLC18A3c.570C= (p.Ala190=)
c.-69+2111C= (n.-69+2111C=)
10g.49611310C>GCA469791314CHAT,SLC18A3c.570C>G (p.Ala190=)
c.-69+2111C>G (n.-69+2111C>G)
10g.49611310C>TCA469791312CHAT,SLC18A3c.570C>T (p.Ala190=)
c.-69+2111C>T (n.-69+2111C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v4
10g.49611311T>ACA376719435CHAT,SLC18A3c.571T>A (p.Phe191Ile)
c.-69+2112T>A (n.-69+2112T>A)
10g.49611311T>CCA376719437CHAT,SLC18A3c.571T>C (p.Phe191Leu)
c.-69+2112T>C (n.-69+2112T>C)
10g.49611311T>GCA376719440CHAT,SLC18A3c.571T>G (p.Phe191Val)
c.-69+2112T>G (n.-69+2112T>G)
10g.49611312T>ACA376719443CHAT,SLC18A3c.572T>A (p.Phe191Tyr)
c.-69+2113T>A (n.-69+2113T>A)
10g.49611312T>CCA376719445CHAT,SLC18A3c.572T>C (p.Phe191Ser)
c.-69+2113T>C (n.-69+2113T>C)
10g.49611312T>GCA376719447CHAT,SLC18A3c.572T>G (p.Phe191Cys)
c.-69+2113T>G (n.-69+2113T>G)
10g.49611313C>ACA376719451CHAT,SLC18A3c.573C>A (p.Phe191Leu)
c.-69+2114C>A (n.-69+2114C>A)
10g.49611313C>GCA376719453CHAT,SLC18A3c.573C>G (p.Phe191Leu)
c.-69+2114C>G (n.-69+2114C>G)
10g.49611313C>TCA469791319CHAT,SLC18A3c.573C>T (p.Phe191=)
c.-69+2114C>T (n.-69+2114C>T)
 gnomAD v4 COSMIC
10g.49611314G>ACA376719457CHAT,SLC18A3c.574G>A (p.Ala192Thr)
c.-69+2115G>A (n.-69+2115G>A)
 gnomAD v4 COSMIC
10g.49611314G>CCA376719460CHAT,SLC18A3c.574G>C (p.Ala192Pro)
c.-69+2115G>C (n.-69+2115G>C)
10g.49611314G=CA1908793321CHAT,SLC18A3c.574G= (p.Ala192=)
c.-69+2115G= (n.-69+2115G=)
10g.49611314G>TCA376719464CHAT,SLC18A3c.574G>T (p.Ala192Ser)
c.-69+2115G>T (n.-69+2115G>T)
 dbSNP gnomAD v2 gnomAD v4
10g.49611315C>ACA376719472CHAT,SLC18A3c.575C>A (p.Ala192Asp)
c.-69+2116C>A (n.-69+2116C>A)
10g.49611315C=CA1908793323CHAT,SLC18A3c.575C= (p.Ala192=)
c.-69+2116C= (n.-69+2116C=)
10g.49611315C>GCA376719474CHAT,SLC18A3c.575C>G (p.Ala192Gly)
c.-69+2116C>G (n.-69+2116C>G)
10g.49611315C>TCA5496789CHAT,SLC18A3c.575C>T (p.Ala192Val)
c.-69+2116C>T (n.-69+2116C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.49611316C>ACA469791326CHAT,SLC18A3c.576C>A (p.Ala192=)
c.-69+2117C>A (n.-69+2117C>A)
10g.49611316C>GCA469791324CHAT,SLC18A3c.576C>G (p.Ala192=)
c.-69+2117C>G (n.-69+2117C>G)
 gnomAD v4
10g.49611316C>TCA469791325CHAT,SLC18A3c.576C>T (p.Ala192=)
c.-69+2117C>T (n.-69+2117C>T)
 gnomAD v4
10g.49611317G>ACA376719477CHAT,SLC18A3c.577G>A (p.Asp193Asn)
c.-69+2118G>A (n.-69+2118G>A)
 dbSNP gnomAD v2 gnomAD v4
10g.49611317G>CCA376719479CHAT,SLC18A3c.577G>C (p.Asp193His)
c.-69+2118G>C (n.-69+2118G>C)
10g.49611317G=CA1908793329CHAT,SLC18A3c.577G= (p.Asp193=)
c.-69+2118G= (n.-69+2118G=)
10g.49611317G>TCA376719482CHAT,SLC18A3c.577G>T (p.Asp193Tyr)
c.-69+2118G>T (n.-69+2118G>T)
 gnomAD v4
10g.49611318A>CCA376719487CHAT,SLC18A3c.578A>C (p.Asp193Ala)
c.-69+2119A>C (n.-69+2119A>C)
10g.49611318A>GCA376719489CHAT,SLC18A3c.578A>G (p.Asp193Gly)
c.-69+2119A>G (n.-69+2119A>G)
10g.49611318A>TCA376719492CHAT,SLC18A3c.578A>T (p.Asp193Val)
c.-69+2119A>T (n.-69+2119A>T)
10g.49611319C>ACA376719496CHAT,SLC18A3c.579C>A (p.Asp193Glu)
c.-69+2120C>A (n.-69+2120C>A)
10g.49611319C>GCA376719501CHAT,SLC18A3c.579C>G (p.Asp193Glu)
c.-69+2120C>G (n.-69+2120C>G)
 gnomAD v4
10g.49611319C>TCA469791330CHAT,SLC18A3c.579C>T (p.Asp193=)
c.-69+2120C>T (n.-69+2120C>T)
10g.49611320A>CCA376719503CHAT,SLC18A3c.580A>C (p.Thr194Pro)
c.-69+2121A>C (n.-69+2121A>C)
10g.49611320A>GCA376719506CHAT,SLC18A3c.580A>G (p.Thr194Ala)
c.-69+2121A>G (n.-69+2121A>G)
 gnomAD v4
10g.49611320A>TCA376719508CHAT,SLC18A3c.580A>T (p.Thr194Ser)
c.-69+2121A>T (n.-69+2121A>T)
 gnomAD v4
10g.49611321C>ACA376719512CHAT,SLC18A3c.581C>A (p.Thr194Lys)
c.-69+2122C>A (n.-69+2122C>A)
10g.49611321C=CA1908793334CHAT,SLC18A3c.581C= (p.Thr194=)
c.-69+2122C= (n.-69+2122C=)
10g.49611321C>GCA376719515CHAT,SLC18A3c.581C>G (p.Thr194Arg)
c.-69+2122C>G (n.-69+2122C>G)
 dbSNP
10g.49611321C>TCA376719518CHAT,SLC18A3c.581C>T (p.Thr194Met)
c.-69+2122C>T (n.-69+2122C>T)
 dbSNP gnomAD v4
10g.49611322G>ACA469791342CHAT,SLC18A3c.582G>A (p.Thr194=)
c.-69+2123G>A (n.-69+2123G>A)
 gnomAD v4
10g.49611322G>CCA469791341CHAT,SLC18A3c.582G>C (p.Thr194=)
c.-69+2123G>C (n.-69+2123G>C)
10g.49611322G>TCA469791339CHAT,SLC18A3c.582G>T (p.Thr194=)
c.-69+2123G>T (n.-69+2123G>T)
10g.49611323T>ACA376719524CHAT,SLC18A3c.583T>A (p.Ser195Thr)
c.-69+2124T>A (n.-69+2124T>A)
10g.49611323T>CCA376719526CHAT,SLC18A3c.583T>C (p.Ser195Pro)
c.-69+2124T>C (n.-69+2124T>C)
 dbSNP
10g.49611323T>GCA376719521CHAT,SLC18A3c.583T>G (p.Ser195Ala)
c.-69+2124T>G (n.-69+2124T>G)
10g.49611323T=CA1908793338CHAT,SLC18A3c.583T= (p.Ser195=)
c.-69+2124T= (n.-69+2124T=)
10g.49611324C>ACA376719535CHAT,SLC18A3c.584C>A (p.Ser195Tyr)
c.-69+2125C>A (n.-69+2125C>A)
10g.49611324C>GCA376719530CHAT,SLC18A3c.584C>G (p.Ser195Cys)
c.-69+2125C>G (n.-69+2125C>G)
10g.49611324C>TCA376719533CHAT,SLC18A3c.584C>T (p.Ser195Phe)
c.-69+2125C>T (n.-69+2125C>T)
10g.49611325T>ACA469791346CHAT,SLC18A3c.585T>A (p.Ser195=)
c.-69+2126T>A (n.-69+2126T>A)
10g.49611325T>CCA469791344CHAT,SLC18A3c.585T>C (p.Ser195=)
c.-69+2126T>C (n.-69+2126T>C)
10g.49611325T>GCA469791345CHAT,SLC18A3c.585T>G (p.Ser195=)
c.-69+2126T>G (n.-69+2126T>G)
10g.49611326G>ACA5496790CHAT,SLC18A3c.586G>A (p.Gly196Ser)
c.-69+2127G>A (n.-69+2127G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.49611326G>CCA376719539CHAT,SLC18A3c.586G>C (p.Gly196Arg)
c.-69+2127G>C (n.-69+2127G>C)
10g.49611326G=CA1908793346CHAT,SLC18A3c.586G= (p.Gly196=)
c.-69+2127G= (n.-69+2127G=)
10g.49611326G>TCA376719543CHAT,SLC18A3c.586G>T (p.Gly196Cys)
c.-69+2127G>T (n.-69+2127G>T)
10g.49611327G>ACA376719547CHAT,SLC18A3c.587G>A (p.Gly196Asp)
c.-69+2128G>A (n.-69+2128G>A)
 gnomAD v4
10g.49611327G>CCA376719550CHAT,SLC18A3c.587G>C (p.Gly196Ala)
c.-69+2128G>C (n.-69+2128G>C)
10g.49611327G>TCA376719554CHAT,SLC18A3c.587G>T (p.Gly196Val)
c.-69+2128G>T (n.-69+2128G>T)
 gnomAD v4
10g.49611328C>ACA469791349CHAT,SLC18A3c.588C>A (p.Gly196=)
c.-69+2129C>A (n.-69+2129C>A)
10g.49611328C=CA1908793352CHAT,SLC18A3c.588C= (p.Gly196=)
c.-69+2129C= (n.-69+2129C=)
10g.49611328C>GCA469791348CHAT,SLC18A3c.588C>G (p.Gly196=)
c.-69+2129C>G (n.-69+2129C>G)
10g.49611328C>TCA469791350CHAT,SLC18A3c.588C>T (p.Gly196=)
c.-69+2129C>T (n.-69+2129C>T)
 dbSNP gnomAD v3 gnomAD v4
10g.49611329A=CA1908793359CHAT,SLC18A3c.589A= (p.Ile197=)
c.-69+2130A= (n.-69+2130A=)
10g.49611329A>CCA376719557CHAT,SLC18A3c.589A>C (p.Ile197Leu)
c.-69+2130A>C (n.-69+2130A>C)
10g.49611329A>GCA5496792CHAT,SLC18A3c.589A>G (p.Ile197Val)
c.-69+2130A>G (n.-69+2130A>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.49611329A>TCA5496791CHAT,SLC18A3c.589A>T (p.Ile197Leu)
c.-69+2130A>T (n.-69+2130A>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.49611330T>ACA376719564CHAT,SLC18A3c.590T>A (p.Ile197Lys)
c.-69+2131T>A (n.-69+2131T>A)
10g.49611330T>CCA376719567CHAT,SLC18A3c.590T>C (p.Ile197Thr)
c.-69+2131T>C (n.-69+2131T>C)
 gnomAD v4
10g.49611330T>GCA376719570CHAT,SLC18A3c.590T>G (p.Ile197Arg)
c.-69+2131T>G (n.-69+2131T>G)
10g.49611331A=CA1908793365CHAT,SLC18A3c.591A= (p.Ile197=)
c.-69+2132A= (n.-69+2132A=)
10g.49611331A>CCA469791356CHAT,SLC18A3c.591A>C (p.Ile197=)
c.-69+2132A>C (n.-69+2132A>C)
10g.49611331A>GCA376719574CHAT,SLC18A3c.591A>G (p.Ile197Met)
c.-69+2132A>G (n.-69+2132A>G)
 ClinVar dbSNP
10g.49611331A>TCA5496793CHAT,SLC18A3c.591A>T (p.Ile197=)
c.-69+2132A>T (n.-69+2132A>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.49611332G>ACA376719578CHAT,SLC18A3c.592G>A (p.Ala198Thr)
c.-69+2133G>A (n.-69+2133G>A)
 gnomAD v4
10g.49611332G>CCA376719580CHAT,SLC18A3c.592G>C (p.Ala198Pro)
c.-69+2133G>C (n.-69+2133G>C)
10g.49611332G=CA1908793370CHAT,SLC18A3c.592G= (p.Ala198=)
c.-69+2133G= (n.-69+2133G=)
10g.49611332G>TCA376719583CHAT,SLC18A3c.592G>T (p.Ala198Ser)
c.-69+2133G>T (n.-69+2133G>T)
 dbSNP gnomAD v2 gnomAD v4
10g.49611333C>ACA376719586CHAT,SLC18A3c.593C>A (p.Ala198Asp)
c.-69+2134C>A (n.-69+2134C>A)
10g.49611333C>GCA376719588CHAT,SLC18A3c.593C>G (p.Ala198Gly)
c.-69+2134C>G (n.-69+2134C>G)
 gnomAD v4
10g.49611333C>TCA376719593CHAT,SLC18A3c.593C>T (p.Ala198Val)
c.-69+2134C>T (n.-69+2134C>T)
10g.49611334C>ACA469791364CHAT,SLC18A3c.594C>A (p.Ala198=)
c.-69+2135C>A (n.-69+2135C>A)
10g.49611334C>GCA469791363CHAT,SLC18A3c.594C>G (p.Ala198=)
c.-69+2135C>G (n.-69+2135C>G)
10g.49611334C>TCA469791362CHAT,SLC18A3c.594C>T (p.Ala198=)
c.-69+2135C>T (n.-69+2135C>T)
10g.49611335A=CA1908793373CHAT,SLC18A3c.595A= (p.Met199=)
c.-69+2136A= (n.-69+2136A=)
10g.49611335A>CCA376719596CHAT,SLC18A3c.595A>C (p.Met199Leu)
c.-69+2136A>C (n.-69+2136A>C)
 ClinVar dbSNP gnomAD v4
10g.49611335A>GCA376719597CHAT,SLC18A3c.595A>G (p.Met199Val)
c.-69+2136A>G (n.-69+2136A>G)
 ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC
10g.49611335A>TCA376719601CHAT,SLC18A3c.595A>T (p.Met199Leu)
c.-69+2136A>T (n.-69+2136A>T)
 dbSNP
10g.49611336T>ACA376719605CHAT,SLC18A3c.596T>A (p.Met199Lys)
c.-69+2137T>A (n.-69+2137T>A)
 dbSNP
10g.49611336T>CCA376719608CHAT,SLC18A3c.596T>C (p.Met199Thr)
c.-69+2137T>C (n.-69+2137T>C)
 gnomAD v4
10g.49611336T>GCA376719611CHAT,SLC18A3c.596T>G (p.Met199Arg)
c.-69+2137T>G (n.-69+2137T>G)
10g.49611336T=CA1908793385CHAT,SLC18A3c.596T= (p.Met199=)
c.-69+2137T= (n.-69+2137T=)

Number of alleles fetched