Chr Mutation (hg38) CAid Gene Transcript Linkouts
10g.49611346_49611354dupCA2609115630CHAT,SLC18A3c.606_614dup (p.Pro205_Glu206insLysTyrPro)
c.-69+2147_-69+2155dup (n.-69+2147_-69+2155dup)
 gnomAD v4
10g.49611353C>ACA376719712CHAT,SLC18A3c.613C>A (p.Pro205Thr)
c.-69+2154C>A (n.-69+2154C>A)
 gnomAD v4
10g.49611353C=CA1908793449CHAT,SLC18A3c.613C= (p.Pro205=)
c.-69+2154C= (n.-69+2154C=)
10g.49611353C>GCA376719714CHAT,SLC18A3c.613C>G (p.Pro205Ala)
c.-69+2154C>G (n.-69+2154C>G)
 dbSNP gnomAD v2 gnomAD v4
10g.49611353C>TCA376719716CHAT,SLC18A3c.613C>T (p.Pro205Ser)
c.-69+2154C>T (n.-69+2154C>T)
 dbSNP gnomAD v4
10g.49611354C>ACA376719717CHAT,SLC18A3c.614C>A (p.Pro205Gln)
c.-69+2155C>A (n.-69+2155C>A)
 gnomAD v4
10g.49611354C=CA1908793453CHAT,SLC18A3c.614C= (p.Pro205=)
c.-69+2155C= (n.-69+2155C=)
10g.49611354C>GCA376719720CHAT,SLC18A3c.614C>G (p.Pro205Arg)
c.-69+2155C>G (n.-69+2155C>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.49611354C>TCA206621083CHAT,SLC18A3c.614C>T (p.Pro205Leu)
c.-69+2155C>T (n.-69+2155C>T)
 dbSNP gnomAD v2 gnomAD v4
10g.49611355G>ACA5496798CHAT,SLC18A3c.615G>A (p.Pro205=)
c.-69+2156G>A (n.-69+2156G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.49611355G>CCA5496797CHAT,SLC18A3c.615G>C (p.Pro205=)
c.-69+2156G>C (n.-69+2156G>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.49611355G=CA1908793458CHAT,SLC18A3c.615G= (p.Pro205=)
c.-69+2156G= (n.-69+2156G=)
10g.49611355G>TCA469791407CHAT,SLC18A3c.615G>T (p.Pro205=)
c.-69+2156G>T (n.-69+2156G>T)
10g.49611356G>ACA206621089CHAT,SLC18A3c.616G>A (p.Glu206Lys)
c.-69+2157G>A (n.-69+2157G>A)
 dbSNP
10g.49611356G>CCA376719731CHAT,SLC18A3c.616G>C (p.Glu206Gln)
c.-69+2157G>C (n.-69+2157G>C)
10g.49611356G=CA1908793471CHAT,SLC18A3c.616G= (p.Glu206=)
c.-69+2157G= (n.-69+2157G=)
10g.49611356G>TCA376719735CHAT,SLC18A3c.616G>T (p.Glu206Ter)
c.-69+2157G>T (n.-69+2157G>T)
10g.49611357A=CA1908793476CHAT,SLC18A3c.617A= (p.Glu206=)
c.-69+2158A= (n.-69+2158A=)
10g.49611357A>CCA376719742CHAT,SLC18A3c.617A>C (p.Glu206Ala)
c.-69+2158A>C (n.-69+2158A>C)
10g.49611357A>GCA5496799CHAT,SLC18A3c.617A>G (p.Glu206Gly)
c.-69+2158A>G (n.-69+2158A>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.49611357A>TCA376719740CHAT,SLC18A3c.617A>T (p.Glu206Val)
c.-69+2158A>T (n.-69+2158A>T)
10g.49611358G>ACA469791408CHAT,SLC18A3c.618G>A (p.Glu206=)
c.-69+2159G>A (n.-69+2159G>A)
10g.49611358G>CCA376719744CHAT,SLC18A3c.618G>C (p.Glu206Asp)
c.-69+2159G>C (n.-69+2159G>C)
 gnomAD v4
10g.49611358G>TCA376719745CHAT,SLC18A3c.618G>T (p.Glu206Asp)
c.-69+2159G>T (n.-69+2159G>T)
 COSMIC
10g.49611359G>ACA376719746CHAT,SLC18A3c.619G>A (p.Glu207Lys)
c.-69+2160G>A (n.-69+2160G>A)
 gnomAD v4
10g.49611359G>CCA376719747CHAT,SLC18A3c.619G>C (p.Glu207Gln)
c.-69+2160G>C (n.-69+2160G>C)
10g.49611359G>TCA376719748CHAT,SLC18A3c.619G>T (p.Glu207Ter)
c.-69+2160G>T (n.-69+2160G>T)
10g.49611360A=CA1908793479CHAT,SLC18A3c.620A= (p.Glu207=)
c.-69+2161A= (n.-69+2161A=)
10g.49611360A>CCA376719752CHAT,SLC18A3c.620A>C (p.Glu207Ala)
c.-69+2161A>C (n.-69+2161A>C)
10g.49611360A>GCA376719754CHAT,SLC18A3c.620A>G (p.Glu207Gly)
c.-69+2161A>G (n.-69+2161A>G)
 dbSNP gnomAD v2 gnomAD v4
10g.49611360A>TCA376719755CHAT,SLC18A3c.620A>T (p.Glu207Val)
c.-69+2161A>T (n.-69+2161A>T)
10g.49611360_49611368delinsAGCCGGAGCCA1908793480CHAT,SLC18A3c.620_628delinsAGCCGGAGC (p.Glu207=)
c.-69+2161_-69+2169delinsAGCCGGAGC (n.-69+2161_-69+2169delinsAGCCGGAGC)
10g.49611361G>ACA5496800CHAT,SLC18A3c.621G>A (p.Glu207=)
c.-69+2162G>A (n.-69+2162G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.49611361G>CCA376719764CHAT,SLC18A3c.621G>C (p.Glu207Asp)
c.-69+2162G>C (n.-69+2162G>C)
10g.49611361G=CA1908793488CHAT,SLC18A3c.621G= (p.Glu207=)
c.-69+2162G= (n.-69+2162G=)
10g.49611361G>TCA376719766CHAT,SLC18A3c.621G>T (p.Glu207Asp)
c.-69+2162G>T (n.-69+2162G>T)
10g.49611363_49611370delCA918671466CHAT,SLC18A3c.623_630del (p.Pro208GlnfsTer12)
c.-69+2164_-69+2171del (n.-69+2164_-69+2171del)
 dbSNP
10g.49611362C>ACA376719773CHAT,SLC18A3c.622C>A (p.Pro208Thr)
c.-69+2163C>A (n.-69+2163C>A)
 gnomAD v4
10g.49611362C=CA1908793491CHAT,SLC18A3c.622C= (p.Pro208=)
c.-69+2163C= (n.-69+2163C=)
10g.49611362C>GCA376719776CHAT,SLC18A3c.622C>G (p.Pro208Ala)
c.-69+2163C>G (n.-69+2163C>G)
 gnomAD v4
10g.49611362C>TCA5496801CHAT,SLC18A3c.622C>T (p.Pro208Ser)
c.-69+2163C>T (n.-69+2163C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.49611363C>ACA376719779CHAT,SLC18A3c.623C>A (p.Pro208Gln)
c.-69+2164C>A (n.-69+2164C>A)
 dbSNP gnomAD v3 gnomAD v4
10g.49611363C=CA1908793496CHAT,SLC18A3c.623C= (p.Pro208=)
c.-69+2164C= (n.-69+2164C=)
10g.49611363C>GCA5496802CHAT,SLC18A3c.623C>G (p.Pro208Arg)
c.-69+2164C>G (n.-69+2164C>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.49611363C>TCA5496803CHAT,SLC18A3c.623C>T (p.Pro208Leu)
c.-69+2164C>T (n.-69+2164C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.49611364G>ACA469791423CHAT,SLC18A3c.624G>A (p.Pro208=)
c.-69+2165G>A (n.-69+2165G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
10g.49611364G>CCA469791425CHAT,SLC18A3c.624G>C (p.Pro208=)
c.-69+2165G>C (n.-69+2165G>C)
 dbSNP gnomAD v2 gnomAD v4
10g.49611364G=CA1908793505CHAT,SLC18A3c.624G= (p.Pro208=)
c.-69+2165G= (n.-69+2165G=)
10g.49611364G>TCA469791424CHAT,SLC18A3c.624G>T (p.Pro208=)
c.-69+2165G>T (n.-69+2165G>T)
 gnomAD v4
10g.49611365G>ACA376719788CHAT,SLC18A3c.625G>A (p.Glu209Lys)
c.-69+2166G>A (n.-69+2166G>A)
10g.49611365G>CCA5496804CHAT,SLC18A3c.625G>C (p.Glu209Gln)
c.-69+2166G>C (n.-69+2166G>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.49611365G=CA1908793507CHAT,SLC18A3c.625G= (p.Glu209=)
c.-69+2166G= (n.-69+2166G=)
10g.49611365G>TCA376719792CHAT,SLC18A3c.625G>T (p.Glu209Ter)
c.-69+2166G>T (n.-69+2166G>T)
 gnomAD v4
10g.49611366A>CCA376719801CHAT,SLC18A3c.626A>C (p.Glu209Ala)
c.-69+2167A>C (n.-69+2167A>C)
10g.49611366A>GCA376719795CHAT,SLC18A3c.626A>G (p.Glu209Gly)
c.-69+2167A>G (n.-69+2167A>G)
 gnomAD v4
10g.49611366A>TCA376719798CHAT,SLC18A3c.626A>T (p.Glu209Val)
c.-69+2167A>T (n.-69+2167A>T)
10g.49611367G>ACA469791435CHAT,SLC18A3c.627G>A (p.Glu209=)
c.-69+2168G>A (n.-69+2168G>A)
 dbSNP gnomAD v3 gnomAD v4
10g.49611367G>CCA376719804CHAT,SLC18A3c.627G>C (p.Glu209Asp)
c.-69+2168G>C (n.-69+2168G>C)
10g.49611367G=CA1908793511CHAT,SLC18A3c.627G= (p.Glu209=)
c.-69+2168G= (n.-69+2168G=)
10g.49611367G>TCA376719806CHAT,SLC18A3c.627G>T (p.Glu209Asp)
c.-69+2168G>T (n.-69+2168G>T)
 dbSNP
10g.49611368C>ACA376719810CHAT,SLC18A3c.628C>A (p.Arg210Ser)
c.-69+2169C>A (n.-69+2169C>A)
 gnomAD v4
10g.49611368C=CA1908793516CHAT,SLC18A3c.628C= (p.Arg210=)
c.-69+2169C= (n.-69+2169C=)
10g.49611368C>GCA376719813CHAT,SLC18A3c.628C>G (p.Arg210Gly)
c.-69+2169C>G (n.-69+2169C>G)
10g.49611368C>TCA5496805CHAT,SLC18A3c.628C>T (p.Arg210Cys)
c.-69+2169C>T (n.-69+2169C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
10g.49611369G>ACA376719819CHAT,SLC18A3c.629G>A (p.Arg210His)
c.-69+2170G>A (n.-69+2170G>A)
 gnomAD v4
10g.49611369G>CCA5496806CHAT,SLC18A3c.629G>C (p.Arg210Pro)
c.-69+2170G>C (n.-69+2170G>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.49611369G=CA1908793523CHAT,SLC18A3c.629G= (p.Arg210=)
c.-69+2170G= (n.-69+2170G=)
10g.49611369G>TCA376719821CHAT,SLC18A3c.629G>T (p.Arg210Leu)
c.-69+2170G>T (n.-69+2170G>T)
10g.49611370C>ACA469791450CHAT,SLC18A3c.630C>A (p.Arg210=)
c.-69+2171C>A (n.-69+2171C>A)
10g.49611370C>GCA469791457CHAT,SLC18A3c.630C>G (p.Arg210=)
c.-69+2171C>G (n.-69+2171C>G)
10g.49611370C>TCA469791455CHAT,SLC18A3c.630C>T (p.Arg210=)
c.-69+2171C>T (n.-69+2171C>T)
10g.49611371A=CA1908793530CHAT,SLC18A3c.631A= (p.Ser211=)
c.-69+2172A= (n.-69+2172A=)
10g.49611371A>CCA376719822CHAT,SLC18A3c.631A>C (p.Ser211Arg)
c.-69+2172A>C (n.-69+2172A>C)
10g.49611371A>GCA376719823CHAT,SLC18A3c.631A>G (p.Ser211Gly)
c.-69+2172A>G (n.-69+2172A>G)
10g.49611371A>TCA376719825CHAT,SLC18A3c.631A>T (p.Ser211Cys)
c.-69+2172A>T (n.-69+2172A>T)
 dbSNP gnomAD v3 gnomAD v4
10g.49611372G>ACA376719827CHAT,SLC18A3c.632G>A (p.Ser211Asn)
c.-69+2173G>A (n.-69+2173G>A)
10g.49611372G>CCA376719829CHAT,SLC18A3c.632G>C (p.Ser211Thr)
c.-69+2173G>C (n.-69+2173G>C)
10g.49611372G>TCA376719831CHAT,SLC18A3c.632G>T (p.Ser211Ile)
c.-69+2173G>T (n.-69+2173G>T)
 gnomAD v4
10g.49611373T>ACA376719834CHAT,SLC18A3c.633T>A (p.Ser211Arg)
c.-69+2174T>A (n.-69+2174T>A)
10g.49611373T>CCA206621114CHAT,SLC18A3c.633T>C (p.Ser211=)
c.-69+2174T>C (n.-69+2174T>C)
 dbSNP gnomAD v3 gnomAD v4
10g.49611373T>GCA376719836CHAT,SLC18A3c.633T>G (p.Ser211Arg)
c.-69+2174T>G (n.-69+2174T>G)
10g.49611373T=CA1908793533CHAT,SLC18A3c.633T= (p.Ser211=)
c.-69+2174T= (n.-69+2174T=)
10g.49611374C>ACA376719839CHAT,SLC18A3c.634C>A (p.Arg212Ser)
c.-69+2175C>A (n.-69+2175C>A)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.49611374C=CA1908793541CHAT,SLC18A3c.634C= (p.Arg212=)
c.-69+2175C= (n.-69+2175C=)
10g.49611374C>GCA376719842CHAT,SLC18A3c.634C>G (p.Arg212Gly)
c.-69+2175C>G (n.-69+2175C>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.49611374C>TCA5496807CHAT,SLC18A3c.634C>T (p.Arg212Cys)
c.-69+2175C>T (n.-69+2175C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.49611375G>ACA376719859CHAT,SLC18A3c.635G>A (p.Arg212His)
c.-69+2176G>A (n.-69+2176G>A)
 dbSNP gnomAD v4
10g.49611375G>CCA376719852CHAT,SLC18A3c.635G>C (p.Arg212Pro)
c.-69+2176G>C (n.-69+2176G>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.49611375G=CA1908793550CHAT,SLC18A3c.635G= (p.Arg212=)
c.-69+2176G= (n.-69+2176G=)
10g.49611375G>TCA376719849CHAT,SLC18A3c.635G>T (p.Arg212Leu)
c.-69+2176G>T (n.-69+2176G>T)
 gnomAD v4
10g.49611376T>ACA469791474CHAT,SLC18A3c.636T>A (p.Arg212=)
c.-69+2177T>A (n.-69+2177T>A)
10g.49611376T>CCA5496808CHAT,SLC18A3c.636T>C (p.Arg212=)
c.-69+2177T>C (n.-69+2177T>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.49611376T>GCA469791475CHAT,SLC18A3c.636T>G (p.Arg212=)
c.-69+2177T>G (n.-69+2177T>G)
10g.49611376T=CA1908793560CHAT,SLC18A3c.636T= (p.Arg212=)
c.-69+2177T= (n.-69+2177T=)
10g.49611377G>ACA5496809CHAT,SLC18A3c.637G>A (p.Ala213Thr)
c.-69+2178G>A (n.-69+2178G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.49611377G>CCA376719865CHAT,SLC18A3c.637G>C (p.Ala213Pro)
c.-69+2178G>C (n.-69+2178G>C)
10g.49611377G=CA1908793569CHAT,SLC18A3c.637G= (p.Ala213=)
c.-69+2178G= (n.-69+2178G=)
10g.49611377G>TCA376719868CHAT,SLC18A3c.637G>T (p.Ala213Ser)
c.-69+2178G>T (n.-69+2178G>T)
 gnomAD v4
10g.49611378C>ACA376719873CHAT,SLC18A3c.638C>A (p.Ala213Glu)
c.-69+2179C>A (n.-69+2179C>A)
10g.49611378C=CA1908793573CHAT,SLC18A3c.638C= (p.Ala213=)
c.-69+2179C= (n.-69+2179C=)
10g.49611378C>GCA376719876CHAT,SLC18A3c.638C>G (p.Ala213Gly)
c.-69+2179C>G (n.-69+2179C>G)
10g.49611378C>TCA376719883CHAT,SLC18A3c.638C>T (p.Ala213Val)
c.-69+2179C>T (n.-69+2179C>T)
 dbSNP gnomAD v2 gnomAD v4
10g.49611379A=CA1908793577CHAT,SLC18A3c.639A= (p.Ala213=)
c.-69+2180A= (n.-69+2180A=)
10g.49611379A>CCA5496810CHAT,SLC18A3c.639A>C (p.Ala213=)
c.-69+2180A>C (n.-69+2180A>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.49611379A>GCA469791489CHAT,SLC18A3c.639A>G (p.Ala213=)
c.-69+2180A>G (n.-69+2180A>G)
10g.49611379A>TCA469791492CHAT,SLC18A3c.639A>T (p.Ala213=)
c.-69+2180A>T (n.-69+2180A>T)
10g.49611380C>ACA376719887CHAT,SLC18A3c.640C>A (p.Leu214Met)
c.-69+2181C>A (n.-69+2181C>A)
 gnomAD v4
10g.49611380C>GCA376719888CHAT,SLC18A3c.640C>G (p.Leu214Val)
c.-69+2181C>G (n.-69+2181C>G)
10g.49611380C>TCA469791493CHAT,SLC18A3c.640C>T (p.Leu214=)
c.-69+2181C>T (n.-69+2181C>T)
 gnomAD v4
10g.49611381T>ACA376719892CHAT,SLC18A3c.641T>A (p.Leu214Gln)
c.-69+2182T>A (n.-69+2182T>A)
10g.49611381T>CCA376719895CHAT,SLC18A3c.641T>C (p.Leu214Pro)
c.-69+2182T>C (n.-69+2182T>C)
 gnomAD v4
10g.49611381T>GCA376719898CHAT,SLC18A3c.641T>G (p.Leu214Arg)
c.-69+2182T>G (n.-69+2182T>G)
10g.49611382G>ACA5496811CHAT,SLC18A3c.642G>A (p.Leu214=)
c.-69+2183G>A (n.-69+2183G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
10g.49611382G>CCA469791498CHAT,SLC18A3c.642G>C (p.Leu214=)
c.-69+2183G>C (n.-69+2183G>C)
10g.49611382G=CA1908793583CHAT,SLC18A3c.642G= (p.Leu214=)
c.-69+2183G= (n.-69+2183G=)
10g.49611382G>TCA469791502CHAT,SLC18A3c.642G>T (p.Leu214=)
c.-69+2183G>T (n.-69+2183G>T)
 gnomAD v4
10g.49611383G>ACA376719918CHAT,SLC18A3c.643G>A (p.Gly215Ser)
c.-69+2184G>A (n.-69+2184G>A)
10g.49611383G>CCA376719905CHAT,SLC18A3c.643G>C (p.Gly215Arg)
c.-69+2184G>C (n.-69+2184G>C)
10g.49611383G>TCA376719917CHAT,SLC18A3c.643G>T (p.Gly215Cys)
c.-69+2184G>T (n.-69+2184G>T)
10g.49611384G>ACA376719921CHAT,SLC18A3c.644G>A (p.Gly215Asp)
c.-69+2185G>A (n.-69+2185G>A)
 gnomAD v4
10g.49611384G>CCA376719923CHAT,SLC18A3c.644G>C (p.Gly215Ala)
c.-69+2185G>C (n.-69+2185G>C)
10g.49611384G>TCA376719925CHAT,SLC18A3c.644G>T (p.Gly215Val)
c.-69+2185G>T (n.-69+2185G>T)
10g.49611385C>ACA469791509CHAT,SLC18A3c.645C>A (p.Gly215=)
c.-69+2186C>A (n.-69+2186C>A)
10g.49611385C=CA1908793589CHAT,SLC18A3c.645C= (p.Gly215=)
c.-69+2186C= (n.-69+2186C=)
10g.49611385C>GCA5496812CHAT,SLC18A3c.645C>G (p.Gly215=)
c.-69+2186C>G (n.-69+2186C>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.49611385C>TCA469791510CHAT,SLC18A3c.645C>T (p.Gly215=)
c.-69+2186C>T (n.-69+2186C>T)
 gnomAD v4
10g.49611386G>ACA376719929CHAT,SLC18A3c.646G>A (p.Val216Met)
c.-69+2187G>A (n.-69+2187G>A)
 dbSNP gnomAD v2 gnomAD v4 COSMIC
10g.49611386G>CCA376719933CHAT,SLC18A3c.646G>C (p.Val216Leu)
c.-69+2187G>C (n.-69+2187G>C)
10g.49611386G=CA1908793596CHAT,SLC18A3c.646G= (p.Val216=)
c.-69+2187G= (n.-69+2187G=)
10g.49611386G>TCA5496813CHAT,SLC18A3c.646G>T (p.Val216Leu)
c.-69+2187G>T (n.-69+2187G>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.49611387T>ACA376719945CHAT,SLC18A3c.647T>A (p.Val216Glu)
c.-69+2188T>A (n.-69+2188T>A)
10g.49611387T>CCA376719947CHAT,SLC18A3c.647T>C (p.Val216Ala)
c.-69+2188T>C (n.-69+2188T>C)
10g.49611387T>GCA376719949CHAT,SLC18A3c.647T>G (p.Val216Gly)
c.-69+2188T>G (n.-69+2188T>G)
10g.49611388G>ACA469791519CHAT,SLC18A3c.648G>A (p.Val216=)
c.-69+2189G>A (n.-69+2189G>A)
10g.49611388G>CCA469791520CHAT,SLC18A3c.648G>C (p.Val216=)
c.-69+2189G>C (n.-69+2189G>C)
10g.49611388G>TCA469791521CHAT,SLC18A3c.648G>T (p.Val216=)
c.-69+2189G>T (n.-69+2189G>T)
10g.49611389G>ACA376719952CHAT,SLC18A3c.649G>A (p.Ala217Thr)
c.-69+2190G>A (n.-69+2190G>A)
 dbSNP gnomAD v3 gnomAD v4
10g.49611389G>CCA376719955CHAT,SLC18A3c.649G>C (p.Ala217Pro)
c.-69+2190G>C (n.-69+2190G>C)
10g.49611389G=CA1908793600CHAT,SLC18A3c.649G= (p.Ala217=)
c.-69+2190G= (n.-69+2190G=)
10g.49611389G>TCA376719958CHAT,SLC18A3c.649G>T (p.Ala217Ser)
c.-69+2190G>T (n.-69+2190G>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.49611390C>ACA376719963CHAT,SLC18A3c.650C>A (p.Ala217Glu)
c.-69+2191C>A (n.-69+2191C>A)
10g.49611390C=CA1908793603CHAT,SLC18A3c.650C= (p.Ala217=)
c.-69+2191C= (n.-69+2191C=)
10g.49611390C>GCA376719966CHAT,SLC18A3c.650C>G (p.Ala217Gly)
c.-69+2191C>G (n.-69+2191C>G)
 gnomAD v4
10g.49611390C>TCA376719964CHAT,SLC18A3c.650C>T (p.Ala217Val)
c.-69+2191C>T (n.-69+2191C>T)
 dbSNP gnomAD v2 COSMIC
10g.49611391G>ACA5496814CHAT,SLC18A3c.651G>A (p.Ala217=)
c.-69+2192G>A (n.-69+2192G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.49611391G>CCA469791532CHAT,SLC18A3c.651G>C (p.Ala217=)
c.-69+2192G>C (n.-69+2192G>C)
10g.49611391G=CA1908793613CHAT,SLC18A3c.651G= (p.Ala217=)
c.-69+2192G= (n.-69+2192G=)
10g.49611391G>TCA469791534CHAT,SLC18A3c.651G>T (p.Ala217=)
c.-69+2192G>T (n.-69+2192G>T)
 dbSNP gnomAD v4
10g.49611392C>ACA376719973CHAT,SLC18A3c.652C>A (p.Leu218Met)
c.-69+2193C>A (n.-69+2193C>A)
10g.49611392C=CA1908793625CHAT,SLC18A3c.652C= (p.Leu218=)
c.-69+2193C= (n.-69+2193C=)
10g.49611392C>GCA376719976CHAT,SLC18A3c.652C>G (p.Leu218Val)
c.-69+2193C>G (n.-69+2193C>G)
 dbSNP gnomAD v4
10g.49611392C>TCA469791542CHAT,SLC18A3c.652C>T (p.Leu218=)
c.-69+2193C>T (n.-69+2193C>T)
 dbSNP gnomAD v4
10g.49611393T>ACA376719981CHAT,SLC18A3c.653T>A (p.Leu218Gln)
c.-69+2194T>A (n.-69+2194T>A)
 dbSNP gnomAD v2 gnomAD v4
10g.49611393T>CCA376719984CHAT,SLC18A3c.653T>C (p.Leu218Pro)
c.-69+2194T>C (n.-69+2194T>C)
10g.49611393T>GCA376719987CHAT,SLC18A3c.653T>G (p.Leu218Arg)
c.-69+2194T>G (n.-69+2194T>G)
10g.49611393T=CA1908793629CHAT,SLC18A3c.653T= (p.Leu218=)
c.-69+2194T= (n.-69+2194T=)
10g.49611394G>ACA469791553CHAT,SLC18A3c.654G>A (p.Leu218=)
c.-69+2195G>A (n.-69+2195G>A)
10g.49611394G>CCA469791555CHAT,SLC18A3c.654G>C (p.Leu218=)
c.-69+2195G>C (n.-69+2195G>C)
10g.49611394G>TCA469791556CHAT,SLC18A3c.654G>T (p.Leu218=)
c.-69+2195G>T (n.-69+2195G>T)
10g.49611395G>ACA376719991CHAT,SLC18A3c.655G>A (p.Ala219Thr)
c.-69+2196G>A (n.-69+2196G>A)
 gnomAD v4
10g.49611395G>CCA376719992CHAT,SLC18A3c.655G>C (p.Ala219Pro)
c.-69+2196G>C (n.-69+2196G>C)
10g.49611395G=CA1908793635CHAT,SLC18A3c.655G= (p.Ala219=)
c.-69+2196G= (n.-69+2196G=)
10g.49611395G>TCA376719994CHAT,SLC18A3c.655G>T (p.Ala219Ser)
c.-69+2196G>T (n.-69+2196G>T)
 dbSNP COSMIC
10g.49611396C>ACA376719998CHAT,SLC18A3c.656C>A (p.Ala219Asp)
c.-69+2197C>A (n.-69+2197C>A)
 ClinVar dbSNP gnomAD v4
10g.49611396C>GCA376720001CHAT,SLC18A3c.656C>G (p.Ala219Gly)
c.-69+2197C>G (n.-69+2197C>G)
10g.49611396C>TCA376720004CHAT,SLC18A3c.656C>T (p.Ala219Val)
c.-69+2197C>T (n.-69+2197C>T)
 gnomAD v4
10g.49611397C>ACA469791560CHAT,SLC18A3c.657C>A (p.Ala219=)
c.-69+2198C>A (n.-69+2198C>A)
10g.49611397C>GCA469791559CHAT,SLC18A3c.657C>G (p.Ala219=)
c.-69+2198C>G (n.-69+2198C>G)
10g.49611397C>TCA469791561CHAT,SLC18A3c.657C>T (p.Ala219=)
c.-69+2198C>T (n.-69+2198C>T)
 gnomAD v4
10g.49611398T>ACA376720012CHAT,SLC18A3c.658T>A (p.Phe220Ile)
c.-69+2199T>A (n.-69+2199T>A)
10g.49611398T>CCA376720007CHAT,SLC18A3c.658T>C (p.Phe220Leu)
c.-69+2199T>C (n.-69+2199T>C)
10g.49611398T>GCA376720009CHAT,SLC18A3c.658T>G (p.Phe220Val)
c.-69+2199T>G (n.-69+2199T>G)
10g.49611399T>ACA376720014CHAT,SLC18A3c.659T>A (p.Phe220Tyr)
c.-69+2200T>A (n.-69+2200T>A)
10g.49611399T>CCA376720015CHAT,SLC18A3c.659T>C (p.Phe220Ser)
c.-69+2200T>C (n.-69+2200T>C)
10g.49611399T>GCA376720017CHAT,SLC18A3c.659T>G (p.Phe220Cys)
c.-69+2200T>G (n.-69+2200T>G)
10g.49611400C>ACA376720021CHAT,SLC18A3c.660C>A (p.Phe220Leu)
c.-69+2201C>A (n.-69+2201C>A)
10g.49611400C>GCA376720025CHAT,SLC18A3c.660C>G (p.Phe220Leu)
c.-69+2201C>G (n.-69+2201C>G)
10g.49611400C>TCA469791568CHAT,SLC18A3c.660C>T (p.Phe220=)
c.-69+2201C>T (n.-69+2201C>T)
10g.49611401A>CCA376720027CHAT,SLC18A3c.661A>C (p.Ile221Leu)
c.-69+2202A>C (n.-69+2202A>C)
 gnomAD v4
10g.49611401A>GCA376720029CHAT,SLC18A3c.661A>G (p.Ile221Val)
c.-69+2202A>G (n.-69+2202A>G)
 ClinVar dbSNP gnomAD v4
10g.49611401A>TCA376720032CHAT,SLC18A3c.661A>T (p.Ile221Phe)
c.-69+2202A>T (n.-69+2202A>T)
10g.49611402T>ACA376720036CHAT,SLC18A3c.662T>A (p.Ile221Asn)
c.-69+2203T>A (n.-69+2203T>A)
10g.49611402T>CCA376720038CHAT,SLC18A3c.662T>C (p.Ile221Thr)
c.-69+2203T>C (n.-69+2203T>C)
10g.49611402T>GCA376720041CHAT,SLC18A3c.662T>G (p.Ile221Ser)
c.-69+2203T>G (n.-69+2203T>G)
10g.49611403T>ACA469791598CHAT,SLC18A3c.663T>A (p.Ile221=)
c.-69+2204T>A (n.-69+2204T>A)
10g.49611403T>CCA469791580CHAT,SLC18A3c.663T>C (p.Ile221=)
c.-69+2204T>C (n.-69+2204T>C)
10g.49611403T>GCA376720045CHAT,SLC18A3c.663T>G (p.Ile221Met)
c.-69+2204T>G (n.-69+2204T>G)
10g.49611403_49611404delinsTACA1908793640CHAT,SLC18A3c.663_664delinsTA (p.Ile221=)
c.-69+2204_-69+2205delinsTA (n.-69+2204_-69+2205delinsTA)
10g.49611404delCA593780768CHAT,SLC18A3c.664del (p.Ser222AlafsTer5)
c.-69+2205del (n.-69+2205del)
 dbSNP gnomAD v2
10g.49611404A>CCA376720063CHAT,SLC18A3c.664A>C (p.Ser222Arg)
c.-69+2205A>C (n.-69+2205A>C)
10g.49611404A>GCA376720058CHAT,SLC18A3c.664A>G (p.Ser222Gly)
c.-69+2205A>G (n.-69+2205A>G)
10g.49611404A>TCA376720056CHAT,SLC18A3c.664A>T (p.Ser222Cys)
c.-69+2205A>T (n.-69+2205A>T)
10g.49611405G>ACA376720068CHAT,SLC18A3c.665G>A (p.Ser222Asn)
c.-69+2206G>A (n.-69+2206G>A)
10g.49611405G>CCA376720066CHAT,SLC18A3c.665G>C (p.Ser222Thr)
c.-69+2206G>C (n.-69+2206G>C)
 dbSNP gnomAD v2
10g.49611405G=CA1908793648CHAT,SLC18A3c.665G= (p.Ser222=)
c.-69+2206G= (n.-69+2206G=)
10g.49611405G>TCA376720070CHAT,SLC18A3c.665G>T (p.Ser222Ile)
c.-69+2206G>T (n.-69+2206G>T)
10g.49611406C>ACA376720073CHAT,SLC18A3c.666C>A (p.Ser222Arg)
c.-69+2207C>A (n.-69+2207C>A)
10g.49611406C=CA1908793656CHAT,SLC18A3c.666C= (p.Ser222=)
c.-69+2207C= (n.-69+2207C=)
10g.49611406C>GCA376720076CHAT,SLC18A3c.666C>G (p.Ser222Arg)
c.-69+2207C>G (n.-69+2207C>G)
 dbSNP
10g.49611406C>TCA469791606CHAT,SLC18A3c.666C>T (p.Ser222=)
c.-69+2207C>T (n.-69+2207C>T)
 dbSNP gnomAD v4
10g.49611407T>ACA376720078CHAT,SLC18A3c.667T>A (p.Phe223Ile)
c.-69+2208T>A (n.-69+2208T>A)
10g.49611407T>CCA376720081CHAT,SLC18A3c.667T>C (p.Phe223Leu)
c.-69+2208T>C (n.-69+2208T>C)
10g.49611407T>GCA376720085CHAT,SLC18A3c.667T>G (p.Phe223Val)
c.-69+2208T>G (n.-69+2208T>G)
10g.49611408T>ACA376720089CHAT,SLC18A3c.668T>A (p.Phe223Tyr)
c.-69+2209T>A (n.-69+2209T>A)
10g.49611408T>CCA376720092CHAT,SLC18A3c.668T>C (p.Phe223Ser)
c.-69+2209T>C (n.-69+2209T>C)
10g.49611408T>GCA376720097CHAT,SLC18A3c.668T>G (p.Phe223Cys)
c.-69+2209T>G (n.-69+2209T>G)
10g.49611409C>ACA376720102CHAT,SLC18A3c.669C>A (p.Phe223Leu)
c.-69+2210C>A (n.-69+2210C>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.49611409C=CA1908793663CHAT,SLC18A3c.669C= (p.Phe223=)
c.-69+2210C= (n.-69+2210C=)
10g.49611409C>GCA376720104CHAT,SLC18A3c.669C>G (p.Phe223Leu)
c.-69+2210C>G (n.-69+2210C>G)
 gnomAD v4
10g.49611409C>TCA5496815CHAT,SLC18A3c.669C>T (p.Phe223=)
c.-69+2210C>T (n.-69+2210C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
10g.49611410G>ACA376720109CHAT,SLC18A3c.670G>A (p.Gly224Arg)
c.-69+2211G>A (n.-69+2211G>A)
 COSMIC
10g.49611410G>CCA376720110CHAT,SLC18A3c.670G>C (p.Gly224Arg)
c.-69+2211G>C (n.-69+2211G>C)
 dbSNP gnomAD v2 gnomAD v4
10g.49611410G=CA1908793666CHAT,SLC18A3c.670G= (p.Gly224=)
c.-69+2211G= (n.-69+2211G=)
10g.49611410G>TCA206621135CHAT,SLC18A3c.670G>T (p.Gly224Ter)
c.-69+2211G>T (n.-69+2211G>T)
 dbSNP gnomAD v3 gnomAD v4
10g.49611411G>ACA376720121CHAT,SLC18A3c.671G>A (p.Gly224Glu)
c.-69+2212G>A (n.-69+2212G>A)
10g.49611411G>CCA376720118CHAT,SLC18A3c.671G>C (p.Gly224Ala)
c.-69+2212G>C (n.-69+2212G>C)
10g.49611411G>TCA376720117CHAT,SLC18A3c.671G>T (p.Gly224Val)
c.-69+2212G>T (n.-69+2212G>T)
10g.49611411_49611412delinsGACA1908793668CHAT,SLC18A3c.671_672delinsGA (p.Gly224=)
c.-69+2212_-69+2213delinsGA (n.-69+2212_-69+2213delinsGA)
10g.49611412A>CCA469791630CHAT,SLC18A3c.672A>C (p.Gly224=)
c.-69+2213A>C (n.-69+2213A>C)
10g.49611412A>GCA469791632CHAT,SLC18A3c.672A>G (p.Gly224=)
c.-69+2213A>G (n.-69+2213A>G)
10g.49611412A>TCA469791634CHAT,SLC18A3c.672A>T (p.Gly224=)
c.-69+2213A>T (n.-69+2213A>T)
10g.49611413delCA5496816CHAT,SLC18A3c.673del (p.Ser225AlafsTer2)
c.-69+2214del (n.-69+2214del)
 dbSNP ExAC gnomAD v2
10g.49611413A>CCA376720129CHAT,SLC18A3c.673A>C (p.Ser225Arg)
c.-69+2214A>C (n.-69+2214A>C)
10g.49611413A>GCA376720132CHAT,SLC18A3c.673A>G (p.Ser225Gly)
c.-69+2214A>G (n.-69+2214A>G)
10g.49611413A>TCA376720136CHAT,SLC18A3c.673A>T (p.Ser225Cys)
c.-69+2214A>T (n.-69+2214A>T)
10g.49611414G>ACA376720138CHAT,SLC18A3c.674G>A (p.Ser225Asn)
c.-69+2215G>A (n.-69+2215G>A)
 gnomAD v4
10g.49611414G>CCA376720143CHAT,SLC18A3c.674G>C (p.Ser225Thr)
c.-69+2215G>C (n.-69+2215G>C)
10g.49611414G=CA1908793675CHAT,SLC18A3c.674G= (p.Ser225=)
c.-69+2215G= (n.-69+2215G=)
10g.49611414G>TCA5496817CHAT,SLC18A3c.674G>T (p.Ser225Ile)
c.-69+2215G>T (n.-69+2215G>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.49611415C>ACA376720146CHAT,SLC18A3c.675C>A (p.Ser225Arg)
c.-69+2216C>A (n.-69+2216C>A)
10g.49611415C=CA1908793684CHAT,SLC18A3c.675C= (p.Ser225=)
c.-69+2216C= (n.-69+2216C=)
10g.49611415C>GCA376720149CHAT,SLC18A3c.675C>G (p.Ser225Arg)
c.-69+2216C>G (n.-69+2216C>G)
 gnomAD v4
10g.49611415C>TCA5496818CHAT,SLC18A3c.675C>T (p.Ser225=)
c.-69+2216C>T (n.-69+2216C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.49611416C>ACA376720154CHAT,SLC18A3c.676C>A (p.Leu226Ile)
c.-69+2217C>A (n.-69+2217C>A)
10g.49611416C>GCA376720156CHAT,SLC18A3c.676C>G (p.Leu226Val)
c.-69+2217C>G (n.-69+2217C>G)
10g.49611416C>TCA469791638CHAT,SLC18A3c.676C>T (p.Leu226=)
c.-69+2217C>T (n.-69+2217C>T)
 gnomAD v4
10g.49611417T>ACA376720165CHAT,SLC18A3c.677T>A (p.Leu226Gln)
c.-69+2218T>A (n.-69+2218T>A)
10g.49611417T>CCA5496819CHAT,SLC18A3c.677T>C (p.Leu226Pro)
c.-69+2218T>C (n.-69+2218T>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.49611417T>GCA376720161CHAT,SLC18A3c.677T>G (p.Leu226Arg)
c.-69+2218T>G (n.-69+2218T>G)
10g.49611417T=CA1908793687CHAT,SLC18A3c.677T= (p.Leu226=)
c.-69+2218T= (n.-69+2218T=)
10g.49611418A=CA1908793691CHAT,SLC18A3c.678A= (p.Leu226=)
c.-69+2219A= (n.-69+2219A=)
10g.49611418A>CCA469791646CHAT,SLC18A3c.678A>C (p.Leu226=)
c.-69+2219A>C (n.-69+2219A>C)
10g.49611418A>GCA469791644CHAT,SLC18A3c.678A>G (p.Leu226=)
c.-69+2219A>G (n.-69+2219A>G)
10g.49611418A>TCA5496820CHAT,SLC18A3c.678A>T (p.Leu226=)
c.-69+2219A>T (n.-69+2219A>T)
 dbSNP ExAC gnomAD v2
10g.49611419G>ACA376720170CHAT,SLC18A3c.679G>A (p.Val227Met)
c.-69+2220G>A (n.-69+2220G>A)
 dbSNP gnomAD v3 gnomAD v4
10g.49611419G>CCA376720173CHAT,SLC18A3c.679G>C (p.Val227Leu)
c.-69+2220G>C (n.-69+2220G>C)
10g.49611419G=CA1908793695CHAT,SLC18A3c.679G= (p.Val227=)
c.-69+2220G= (n.-69+2220G=)
10g.49611419G>TCA376720176CHAT,SLC18A3c.679G>T (p.Val227Leu)
c.-69+2220G>T (n.-69+2220G>T)
10g.49611420T>ACA376720182CHAT,SLC18A3c.680T>A (p.Val227Glu)
c.-69+2221T>A (n.-69+2221T>A)
 dbSNP gnomAD v3 gnomAD v4
10g.49611420T>CCA5496822CHAT,SLC18A3c.680T>C (p.Val227Ala)
c.-69+2221T>C (n.-69+2221T>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.49611420T>GCA5496821CHAT,SLC18A3c.680T>G (p.Val227Gly)
c.-69+2221T>G (n.-69+2221T>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.49611420T=CA1908793699CHAT,SLC18A3c.680T= (p.Val227=)
c.-69+2221T= (n.-69+2221T=)
10g.49611421G>ACA469791658CHAT,SLC18A3c.681G>A (p.Val227=)
c.-69+2222G>A (n.-69+2222G>A)
10g.49611421G>CCA469791661CHAT,SLC18A3c.681G>C (p.Val227=)
c.-69+2222G>C (n.-69+2222G>C)
10g.49611421G>TCA469791660CHAT,SLC18A3c.681G>T (p.Val227=)
c.-69+2222G>T (n.-69+2222G>T)
10g.49611422G>ACA376720189CHAT,SLC18A3c.682G>A (p.Ala228Thr)
c.-69+2223G>A (n.-69+2223G>A)
 dbSNP gnomAD v4
10g.49611422G>CCA376720195CHAT,SLC18A3c.682G>C (p.Ala228Pro)
c.-69+2223G>C (n.-69+2223G>C)
10g.49611422G=CA1908793712CHAT,SLC18A3c.682G= (p.Ala228=)
c.-69+2223G= (n.-69+2223G=)
10g.49611422G>TCA376720192CHAT,SLC18A3c.682G>T (p.Ala228Ser)
c.-69+2223G>T (n.-69+2223G>T)
 ClinVar dbSNP gnomAD v2 gnomAD v4
10g.49611423C>ACA376720198CHAT,SLC18A3c.683C>A (p.Ala228Asp)
c.-69+2224C>A (n.-69+2224C>A)
 gnomAD v4
10g.49611423C>GCA376720201CHAT,SLC18A3c.683C>G (p.Ala228Gly)
c.-69+2224C>G (n.-69+2224C>G)
10g.49611423C>TCA376720203CHAT,SLC18A3c.683C>T (p.Ala228Val)
c.-69+2224C>T (n.-69+2224C>T)
10g.49611424C>ACA469791670CHAT,SLC18A3c.684C>A (p.Ala228=)
c.-69+2225C>A (n.-69+2225C>A)
10g.49611424C=CA1908793717CHAT,SLC18A3c.684C= (p.Ala228=)
c.-69+2225C= (n.-69+2225C=)
10g.49611424C>GCA469791671CHAT,SLC18A3c.684C>G (p.Ala228=)
c.-69+2225C>G (n.-69+2225C>G)
10g.49611424C>TCA5496823CHAT,SLC18A3c.684C>T (p.Ala228=)
c.-69+2225C>T (n.-69+2225C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.49611425C>ACA376720212CHAT,SLC18A3c.685C>A (p.Pro229Thr)
c.-69+2226C>A (n.-69+2226C>A)
10g.49611425C>GCA376720219CHAT,SLC18A3c.685C>G (p.Pro229Ala)
c.-69+2226C>G (n.-69+2226C>G)
10g.49611425C>TCA376720216CHAT,SLC18A3c.685C>T (p.Pro229Ser)
c.-69+2226C>T (n.-69+2226C>T)
10g.49611426C>ACA376720224CHAT,SLC18A3c.686C>A (p.Pro229Gln)
c.-69+2227C>A (n.-69+2227C>A)
 dbSNP gnomAD v2 gnomAD v4
10g.49611426C=CA1908793722CHAT,SLC18A3c.686C= (p.Pro229=)
c.-69+2227C= (n.-69+2227C=)
10g.49611426C>GCA376720227CHAT,SLC18A3c.686C>G (p.Pro229Arg)
c.-69+2227C>G (n.-69+2227C>G)
 dbSNP gnomAD v2 gnomAD v4
10g.49611426C>TCA206621152CHAT,SLC18A3c.686C>T (p.Pro229Leu)
c.-69+2227C>T (n.-69+2227C>T)
 dbSNP gnomAD v4
10g.49611427G>ACA469791677CHAT,SLC18A3c.687G>A (p.Pro229=)
c.-69+2228G>A (n.-69+2228G>A)
10g.49611427G>CCA469791678CHAT,SLC18A3c.687G>C (p.Pro229=)
c.-69+2228G>C (n.-69+2228G>C)
10g.49611427G=CA1908793728CHAT,SLC18A3c.687G= (p.Pro229=)
c.-69+2228G= (n.-69+2228G=)
10g.49611427G>TCA5496824CHAT,SLC18A3c.687G>T (p.Pro229=)
c.-69+2228G>T (n.-69+2228G>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.49611428C>ACA376720237CHAT,SLC18A3c.688C>A (p.Pro230Thr)
c.-69+2229C>A (n.-69+2229C>A)
10g.49611428C>GCA376720240CHAT,SLC18A3c.688C>G (p.Pro230Ala)
c.-69+2229C>G (n.-69+2229C>G)
10g.49611428C>TCA376720243CHAT,SLC18A3c.688C>T (p.Pro230Ser)
c.-69+2229C>T (n.-69+2229C>T)
 gnomAD v4 COSMIC
10g.49611429C>ACA376720248CHAT,SLC18A3c.689C>A (p.Pro230His)
c.-69+2230C>A (n.-69+2230C>A)
10g.49611429C>GCA376720250CHAT,SLC18A3c.689C>G (p.Pro230Arg)
c.-69+2230C>G (n.-69+2230C>G)
10g.49611429C>TCA376720254CHAT,SLC18A3c.689C>T (p.Pro230Leu)
c.-69+2230C>T (n.-69+2230C>T)
10g.49611430C>ACA469791691CHAT,SLC18A3c.690C>A (p.Pro230=)
c.-69+2231C>A (n.-69+2231C>A)
10g.49611430C=CA1908793730CHAT,SLC18A3c.690C= (p.Pro230=)
c.-69+2231C= (n.-69+2231C=)
10g.49611430C>GCA469791687CHAT,SLC18A3c.690C>G (p.Pro230=)
c.-69+2231C>G (n.-69+2231C>G)
10g.49611430C>TCA469791692CHAT,SLC18A3c.690C>T (p.Pro230=)
c.-69+2231C>T (n.-69+2231C>T)
 dbSNP gnomAD v2 gnomAD v4
10g.49611431T>ACA376720265CHAT,SLC18A3c.691T>A (p.Phe231Ile)
c.-69+2232T>A (n.-69+2232T>A)
10g.49611431T>CCA376720261CHAT,SLC18A3c.691T>C (p.Phe231Leu)
c.-69+2232T>C (n.-69+2232T>C)
 dbSNP gnomAD v2
10g.49611431T>GCA376720258CHAT,SLC18A3c.691T>G (p.Phe231Val)
c.-69+2232T>G (n.-69+2232T>G)
10g.49611431T=CA1908793734CHAT,SLC18A3c.691T= (p.Phe231=)
c.-69+2232T= (n.-69+2232T=)
10g.49611432T>ACA376720270CHAT,SLC18A3c.692T>A (p.Phe231Tyr)
c.-69+2233T>A (n.-69+2233T>A)
10g.49611432T>CCA376720273CHAT,SLC18A3c.692T>C (p.Phe231Ser)
c.-69+2233T>C (n.-69+2233T>C)
10g.49611432T>GCA376720276CHAT,SLC18A3c.692T>G (p.Phe231Cys)
c.-69+2233T>G (n.-69+2233T>G)
10g.49611433C>ACA376720281CHAT,SLC18A3c.693C>A (p.Phe231Leu)
c.-69+2234C>A (n.-69+2234C>A)
 dbSNP
10g.49611433C=CA1908793736CHAT,SLC18A3c.693C= (p.Phe231=)
c.-69+2234C= (n.-69+2234C=)
10g.49611433C>GCA376720282CHAT,SLC18A3c.693C>G (p.Phe231Leu)
c.-69+2234C>G (n.-69+2234C>G)
10g.49611433C>TCA469791702CHAT,SLC18A3c.693C>T (p.Phe231=)
c.-69+2234C>T (n.-69+2234C>T)
 dbSNP gnomAD v2 gnomAD v4
10g.49611434G>ACA376720293CHAT,SLC18A3c.694G>A (p.Gly232Arg)
c.-69+2235G>A (n.-69+2235G>A)
 dbSNP gnomAD v4
10g.49611434G>CCA376720290CHAT,SLC18A3c.694G>C (p.Gly232Arg)
c.-69+2235G>C (n.-69+2235G>C)
10g.49611434G=CA1908793741CHAT,SLC18A3c.694G= (p.Gly232=)
c.-69+2235G= (n.-69+2235G=)
10g.49611434G>TCA376720287CHAT,SLC18A3c.694G>T (p.Gly232Trp)
c.-69+2235G>T (n.-69+2235G>T)
10g.49611438dupCA2609115948CHAT,SLC18A3c.698dup (p.Ile234HisfsTer4)
c.-69+2239dup (n.-69+2239dup)
 gnomAD v4
10g.49611438delCA2609115952CHAT,SLC18A3c.698del (p.Gly233AlafsTer16)
c.-69+2239del (n.-69+2239del)
 gnomAD v4
10g.49611435G>ACA376720297CHAT,SLC18A3c.695G>A (p.Gly232Glu)
c.-69+2236G>A (n.-69+2236G>A)
10g.49611435G>CCA376720299CHAT,SLC18A3c.695G>C (p.Gly232Ala)
c.-69+2236G>C (n.-69+2236G>C)
 gnomAD v4
10g.49611435G>TCA376720302CHAT,SLC18A3c.695G>T (p.Gly232Val)
c.-69+2236G>T (n.-69+2236G>T)
10g.49611436G>ACA469791714CHAT,SLC18A3c.696G>A (p.Gly232=)
c.-69+2237G>A (n.-69+2237G>A)
 gnomAD v4
10g.49611436G>CCA469791715CHAT,SLC18A3c.696G>C (p.Gly232=)
c.-69+2237G>C (n.-69+2237G>C)
10g.49611436G>TCA469791713CHAT,SLC18A3c.696G>T (p.Gly232=)
c.-69+2237G>T (n.-69+2237G>T)
10g.49611437G>ACA376720306CHAT,SLC18A3c.697G>A (p.Gly233Ser)
c.-69+2238G>A (n.-69+2238G>A)
10g.49611437G>CCA376720309CHAT,SLC18A3c.697G>C (p.Gly233Arg)
c.-69+2238G>C (n.-69+2238G>C)
10g.49611437G=CA1908793751CHAT,SLC18A3c.697G= (p.Gly233=)
c.-69+2238G= (n.-69+2238G=)
10g.49611437G>TCA376720311CHAT,SLC18A3c.697G>T (p.Gly233Cys)
c.-69+2238G>T (n.-69+2238G>T)
 dbSNP gnomAD v4
10g.49611441_49611461dupCA2609115962CHAT,SLC18A3c.701_721dup (p.Gly240_Lys241insIleLeuTyrGluPheAlaGly)
c.-69+2242_-69+2262dup (n.-69+2242_-69+2262dup)
 gnomAD v4
10g.49611438G>ACA206621157CHAT,SLC18A3c.698G>A (p.Gly233Asp)
c.-69+2239G>A (n.-69+2239G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
10g.49611438G>CCA376720315CHAT,SLC18A3c.698G>C (p.Gly233Ala)
c.-69+2239G>C (n.-69+2239G>C)
10g.49611438G=CA1908793757CHAT,SLC18A3c.698G= (p.Gly233=)
c.-69+2239G= (n.-69+2239G=)
10g.49611438G>TCA376720319CHAT,SLC18A3c.698G>T (p.Gly233Val)
c.-69+2239G>T (n.-69+2239G>T)
 gnomAD v4
10g.49611439C>ACA469791725CHAT,SLC18A3c.699C>A (p.Gly233=)
c.-69+2240C>A (n.-69+2240C>A)
10g.49611439C>GCA469791724CHAT,SLC18A3c.699C>G (p.Gly233=)
c.-69+2240C>G (n.-69+2240C>G)
10g.49611439C>TCA469791727CHAT,SLC18A3c.699C>T (p.Gly233=)
c.-69+2240C>T (n.-69+2240C>T)
 gnomAD v4
10g.49611440A>CCA376720323CHAT,SLC18A3c.700A>C (p.Ile234Leu)
c.-69+2241A>C (n.-69+2241A>C)
10g.49611440A>GCA376720327CHAT,SLC18A3c.700A>G (p.Ile234Val)
c.-69+2241A>G (n.-69+2241A>G)
10g.49611440A>TCA376720330CHAT,SLC18A3c.700A>T (p.Ile234Phe)
c.-69+2241A>T (n.-69+2241A>T)
 gnomAD v4
10g.49611441T>ACA376720335CHAT,SLC18A3c.701T>A (p.Ile234Asn)
c.-69+2242T>A (n.-69+2242T>A)
 dbSNP
10g.49611441T>CCA376720338CHAT,SLC18A3c.701T>C (p.Ile234Thr)
c.-69+2242T>C (n.-69+2242T>C)
10g.49611441T>GCA376720342CHAT,SLC18A3c.701T>G (p.Ile234Ser)
c.-69+2242T>G (n.-69+2242T>G)
 dbSNP gnomAD v3 gnomAD v4
10g.49611441T=CA1908793760CHAT,SLC18A3c.701T= (p.Ile234=)
c.-69+2242T= (n.-69+2242T=)
10g.49611442C>ACA469791736CHAT,SLC18A3c.702C>A (p.Ile234=)
c.-69+2243C>A (n.-69+2243C>A)
 dbSNP gnomAD v2 gnomAD v4
10g.49611442C=CA1908793764CHAT,SLC18A3c.702C= (p.Ile234=)
c.-69+2243C= (n.-69+2243C=)
10g.49611442C>GCA376720346CHAT,SLC18A3c.702C>G (p.Ile234Met)
c.-69+2243C>G (n.-69+2243C>G)
10g.49611442C>TCA469791738CHAT,SLC18A3c.702C>T (p.Ile234=)
c.-69+2243C>T (n.-69+2243C>T)
10g.49611443C>ACA376720350CHAT,SLC18A3c.703C>A (p.Leu235Ile)
c.-69+2244C>A (n.-69+2244C>A)
10g.49611443C>GCA376720352CHAT,SLC18A3c.703C>G (p.Leu235Val)
c.-69+2244C>G (n.-69+2244C>G)
 gnomAD v4
10g.49611443C>TCA376720356CHAT,SLC18A3c.703C>T (p.Leu235Phe)
c.-69+2244C>T (n.-69+2244C>T)
10g.49611444T>ACA376720358CHAT,SLC18A3c.704T>A (p.Leu235His)
c.-69+2245T>A (n.-69+2245T>A)
 ClinVar
10g.49611444T>CCA376720361CHAT,SLC18A3c.704T>C (p.Leu235Pro)
c.-69+2245T>C (n.-69+2245T>C)
10g.49611444T>GCA376720364CHAT,SLC18A3c.704T>G (p.Leu235Arg)
c.-69+2245T>G (n.-69+2245T>G)
 dbSNP gnomAD v3 gnomAD v4
10g.49611444T=CA1908793771CHAT,SLC18A3c.704T= (p.Leu235=)
c.-69+2245T= (n.-69+2245T=)
10g.49611445C>ACA469791745CHAT,SLC18A3c.705C>A (p.Leu235=)
c.-69+2246C>A (n.-69+2246C>A)
 gnomAD v4
10g.49611445C=CA1908793779CHAT,SLC18A3c.705C= (p.Leu235=)
c.-69+2246C= (n.-69+2246C=)
10g.49611445C>GCA469791744CHAT,SLC18A3c.705C>G (p.Leu235=)
c.-69+2246C>G (n.-69+2246C>G)
 gnomAD v4
10g.49611445C>TCA469791746CHAT,SLC18A3c.705C>T (p.Leu235=)
c.-69+2246C>T (n.-69+2246C>T)
 dbSNP gnomAD v2
10g.49611446T>ACA376720370CHAT,SLC18A3c.706T>A (p.Tyr236Asn)
c.-69+2247T>A (n.-69+2247T>A)
10g.49611446T>CCA376720376CHAT,SLC18A3c.706T>C (p.Tyr236His)
c.-69+2247T>C (n.-69+2247T>C)
 gnomAD v4
10g.49611446T>GCA376720374CHAT,SLC18A3c.706T>G (p.Tyr236Asp)
c.-69+2247T>G (n.-69+2247T>G)
10g.49611447_49611448delCA2609115992CHAT,SLC18A3c.707_708del (p.Tyr236Ter)
c.-69+2248_-69+2249del (n.-69+2248_-69+2249del)
 gnomAD v4
10g.49611447A=CA1908793802CHAT,SLC18A3c.707A= (p.Tyr236=)
c.-69+2248A= (n.-69+2248A=)
10g.49611447A>CCA376720383CHAT,SLC18A3c.707A>C (p.Tyr236Ser)
c.-69+2248A>C (n.-69+2248A>C)
10g.49611447A>GCA376720385CHAT,SLC18A3c.707A>G (p.Tyr236Cys)
c.-69+2248A>G (n.-69+2248A>G)
 ClinVar dbSNP gnomAD v3 gnomAD v4
10g.49611447A>TCA376720387CHAT,SLC18A3c.707A>T (p.Tyr236Phe)
c.-69+2248A>T (n.-69+2248A>T)
 dbSNP gnomAD v2 gnomAD v4
10g.49611448T>ACA376720391CHAT,SLC18A3c.708T>A (p.Tyr236Ter)
c.-69+2249T>A (n.-69+2249T>A)
10g.49611448T>CCA469791753CHAT,SLC18A3c.708T>C (p.Tyr236=)
c.-69+2249T>C (n.-69+2249T>C)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.49611448T>GCA376720393CHAT,SLC18A3c.708T>G (p.Tyr236Ter)
c.-69+2249T>G (n.-69+2249T>G)
 dbSNP gnomAD v4
10g.49611448T=CA1908793807CHAT,SLC18A3c.708T= (p.Tyr236=)
c.-69+2249T= (n.-69+2249T=)
10g.49611449G>ACA376720398CHAT,SLC18A3c.709G>A (p.Glu237Lys)
c.-69+2250G>A (n.-69+2250G>A)
10g.49611449G>CCA376720400CHAT,SLC18A3c.709G>C (p.Glu237Gln)
c.-69+2250G>C (n.-69+2250G>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.49611449G=CA1908793814CHAT,SLC18A3c.709G= (p.Glu237=)
c.-69+2250G= (n.-69+2250G=)
10g.49611449G>TCA376720404CHAT,SLC18A3c.709G>T (p.Glu237Ter)
c.-69+2250G>T (n.-69+2250G>T)
 dbSNP gnomAD v2 gnomAD v4
10g.49611450A>CCA376720410CHAT,SLC18A3c.710A>C (p.Glu237Ala)
c.-69+2251A>C (n.-69+2251A>C)
10g.49611450A>GCA376720412CHAT,SLC18A3c.710A>G (p.Glu237Gly)
c.-69+2251A>G (n.-69+2251A>G)
10g.49611450A>TCA376720416CHAT,SLC18A3c.710A>T (p.Glu237Val)
c.-69+2251A>T (n.-69+2251A>T)
10g.49611451G>ACA469791760CHAT,SLC18A3c.711G>A (p.Glu237=)
c.-69+2252G>A (n.-69+2252G>A)
10g.49611451G>CCA376720421CHAT,SLC18A3c.711G>C (p.Glu237Asp)
c.-69+2252G>C (n.-69+2252G>C)
10g.49611451G=CA1908793823CHAT,SLC18A3c.711G= (p.Glu237=)
c.-69+2252G= (n.-69+2252G=)
10g.49611451G>TCA376720424CHAT,SLC18A3c.711G>T (p.Glu237Asp)
c.-69+2252G>T (n.-69+2252G>T)
 dbSNP gnomAD v3 gnomAD v4 COSMIC
10g.49611452T>ACA376720437CHAT,SLC18A3c.712T>A (p.Phe238Ile)
c.-69+2253T>A (n.-69+2253T>A)
10g.49611452T>CCA376720430CHAT,SLC18A3c.712T>C (p.Phe238Leu)
c.-69+2253T>C (n.-69+2253T>C)
10g.49611452T>GCA376720434CHAT,SLC18A3c.712T>G (p.Phe238Val)
c.-69+2253T>G (n.-69+2253T>G)
10g.49611453T>ACA376720442CHAT,SLC18A3c.713T>A (p.Phe238Tyr)
c.-69+2254T>A (n.-69+2254T>A)
10g.49611453T>CCA376720443CHAT,SLC18A3c.713T>C (p.Phe238Ser)
c.-69+2254T>C (n.-69+2254T>C)
10g.49611453T>GCA376720446CHAT,SLC18A3c.713T>G (p.Phe238Cys)
c.-69+2254T>G (n.-69+2254T>G)

Number of alleles fetched