Chr Mutation (hg38) CAid Gene Transcript Linkouts
10g.49611921T>ACA376722211CHAT,SLC18A3c.1181T>A (p.Ile394Lys)
c.-69+2722T>A (n.-69+2722T>A)
10g.49611921T>CCA5496916CHAT,SLC18A3c.1181T>C (p.Ile394Thr)
c.-69+2722T>C (n.-69+2722T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.49611921T>GCA376722212CHAT,SLC18A3c.1181T>G (p.Ile394Arg)
c.-69+2722T>G (n.-69+2722T>G)
10g.49611921T=CA1908795017CHAT,SLC18A3c.1181T= (p.Ile394=)
c.-69+2722T= (n.-69+2722T=)
10g.49611922A>CCA469791706CHAT,SLC18A3c.1182A>C (p.Ile394=)
c.-69+2723A>C (n.-69+2723A>C)
10g.49611922A>GCA376722213CHAT,SLC18A3c.1182A>G (p.Ile394Met)
c.-69+2723A>G (n.-69+2723A>G)
10g.49611922A>TCA469791707CHAT,SLC18A3c.1182A>T (p.Ile394=)
c.-69+2723A>T (n.-69+2723A>T)
10g.49611923G>ACA376722214CHAT,SLC18A3c.1183G>A (p.Ala395Thr)
c.-69+2724G>A (n.-69+2724G>A)
 gnomAD v4
10g.49611923G>CCA376722215CHAT,SLC18A3c.1183G>C (p.Ala395Pro)
c.-69+2724G>C (n.-69+2724G>C)
10g.49611923G>TCA376722216CHAT,SLC18A3c.1183G>T (p.Ala395Ser)
c.-69+2724G>T (n.-69+2724G>T)
 gnomAD v4
10g.49611924C>ACA376722217CHAT,SLC18A3c.1184C>A (p.Ala395Asp)
c.-69+2725C>A (n.-69+2725C>A)
10g.49611924C=CA1908795023CHAT,SLC18A3c.1184C= (p.Ala395=)
c.-69+2725C= (n.-69+2725C=)
10g.49611924C>GCA376722218CHAT,SLC18A3c.1184C>G (p.Ala395Gly)
c.-69+2725C>G (n.-69+2725C>G)
10g.49611924C>TCA5496917CHAT,SLC18A3c.1184C>T (p.Ala395Val)
c.-69+2725C>T (n.-69+2725C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.49611925C>ACA469791716CHAT,SLC18A3c.1185C>A (p.Ala395=)
c.-69+2726C>A (n.-69+2726C>A)
 ClinVar dbSNP
10g.49611925C=CA1908795031CHAT,SLC18A3c.1185C= (p.Ala395=)
c.-69+2726C= (n.-69+2726C=)
10g.49611925C>GCA469791717CHAT,SLC18A3c.1185C>G (p.Ala395=)
c.-69+2726C>G (n.-69+2726C>G)
 dbSNP gnomAD v2 gnomAD v4
10g.49611925C>TCA469791718CHAT,SLC18A3c.1185C>T (p.Ala395=)
c.-69+2726C>T (n.-69+2726C>T)
 ClinVar dbSNP gnomAD v4
10g.49611926C>ACA376722220CHAT,SLC18A3c.1186C>A (p.Leu396Ile)
c.-69+2727C>A (n.-69+2727C>A)
10g.49611926C>GCA376722219CHAT,SLC18A3c.1186C>G (p.Leu396Val)
c.-69+2727C>G (n.-69+2727C>G)
10g.49611926C>TCA469791719CHAT,SLC18A3c.1186C>T (p.Leu396=)
c.-69+2727C>T (n.-69+2727C>T)
10g.49611927T>ACA376722221CHAT,SLC18A3c.1187T>A (p.Leu396Gln)
c.-69+2728T>A (n.-69+2728T>A)
10g.49611927T>CCA376722222CHAT,SLC18A3c.1187T>C (p.Leu396Pro)
c.-69+2728T>C (n.-69+2728T>C)
 gnomAD v4
10g.49611927T>GCA376722223CHAT,SLC18A3c.1187T>G (p.Leu396Arg)
c.-69+2728T>G (n.-69+2728T>G)
10g.49611928A>CCA469791728CHAT,SLC18A3c.1188A>C (p.Leu396=)
c.-69+2729A>C (n.-69+2729A>C)
10g.49611928A>GCA469791726CHAT,SLC18A3c.1188A>G (p.Leu396=)
c.-69+2729A>G (n.-69+2729A>G)
10g.49611928A>TCA469791729CHAT,SLC18A3c.1188A>T (p.Leu396=)
c.-69+2729A>T (n.-69+2729A>T)
10g.49611929G>ACA376722224CHAT,SLC18A3c.1189G>A (p.Val397Ile)
c.-69+2730G>A (n.-69+2730G>A)
 gnomAD v4
10g.49611929G>CCA376722225CHAT,SLC18A3c.1189G>C (p.Val397Leu)
c.-69+2730G>C (n.-69+2730G>C)
10g.49611929G>TCA376722226CHAT,SLC18A3c.1189G>T (p.Val397Phe)
c.-69+2730G>T (n.-69+2730G>T)
10g.49611930T>ACA376722227CHAT,SLC18A3c.1190T>A (p.Val397Asp)
c.-69+2731T>A (n.-69+2731T>A)
10g.49611930T>CCA376722229CHAT,SLC18A3c.1190T>C (p.Val397Ala)
c.-69+2731T>C (n.-69+2731T>C)
 dbSNP
10g.49611930T>GCA376722228CHAT,SLC18A3c.1190T>G (p.Val397Gly)
c.-69+2731T>G (n.-69+2731T>G)
10g.49611931C>ACA469791742CHAT,SLC18A3c.1191C>A (p.Val397=)
c.-69+2732C>A (n.-69+2732C>A)
 gnomAD v4
10g.49611931C=CA1908795033CHAT,SLC18A3c.1191C= (p.Val397=)
c.-69+2732C= (n.-69+2732C=)
10g.49611931C>GCA469791740CHAT,SLC18A3c.1191C>G (p.Val397=)
c.-69+2732C>G (n.-69+2732C>G)
 dbSNP gnomAD v4
10g.49611931C>TCA469791734CHAT,SLC18A3c.1191C>T (p.Val397=)
c.-69+2732C>T (n.-69+2732C>T)
10g.49611932G>ACA376722230CHAT,SLC18A3c.1192G>A (p.Asp398Asn)
c.-69+2733G>A (n.-69+2733G>A)
 dbSNP gnomAD v3 gnomAD v4 COSMIC
10g.49611932G>CCA16042222CHAT,SLC18A3c.1192G>C (p.Asp398His)
c.-69+2733G>C (n.-69+2733G>C)
 ClinVar dbSNP
10g.49611932G=CA1908795039CHAT,SLC18A3c.1192G= (p.Asp398=)
c.-69+2733G= (n.-69+2733G=)
10g.49611932G>TCA376722231CHAT,SLC18A3c.1192G>T (p.Asp398Tyr)
c.-69+2733G>T (n.-69+2733G>T)
 COSMIC
10g.49611933A=CA1908795044CHAT,SLC18A3c.1193A= (p.Asp398=)
c.-69+2734A= (n.-69+2734A=)
10g.49611933A>CCA376722232CHAT,SLC18A3c.1193A>C (p.Asp398Ala)
c.-69+2734A>C (n.-69+2734A>C)
10g.49611933A>GCA5496918CHAT,SLC18A3c.1193A>G (p.Asp398Gly)
c.-69+2734A>G (n.-69+2734A>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.49611933A>TCA376722233CHAT,SLC18A3c.1193A>T (p.Asp398Val)
c.-69+2734A>T (n.-69+2734A>T)
10g.49611934C>ACA376722234CHAT,SLC18A3c.1194C>A (p.Asp398Glu)
c.-69+2735C>A (n.-69+2735C>A)
 dbSNP
10g.49611934C=CA1908795051CHAT,SLC18A3c.1194C= (p.Asp398=)
c.-69+2735C= (n.-69+2735C=)
10g.49611934C>GCA5496919CHAT,SLC18A3c.1194C>G (p.Asp398Glu)
c.-69+2735C>G (n.-69+2735C>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.49611934C>TCA469791749CHAT,SLC18A3c.1194C>T (p.Asp398=)
c.-69+2735C>T (n.-69+2735C>T)
10g.49611935A>CCA376722235CHAT,SLC18A3c.1195A>C (p.Thr399Pro)
c.-69+2736A>C (n.-69+2736A>C)
10g.49611935A>GCA376722236CHAT,SLC18A3c.1195A>G (p.Thr399Ala)
c.-69+2736A>G (n.-69+2736A>G)
10g.49611935A>TCA376722237CHAT,SLC18A3c.1195A>T (p.Thr399Ser)
c.-69+2736A>T (n.-69+2736A>T)
10g.49611936C>ACA376722238CHAT,SLC18A3c.1196C>A (p.Thr399Lys)
c.-69+2737C>A (n.-69+2737C>A)
10g.49611936C=CA1908795055CHAT,SLC18A3c.1196C= (p.Thr399=)
c.-69+2737C= (n.-69+2737C=)
10g.49611936C>GCA5496920CHAT,SLC18A3c.1196C>G (p.Thr399Arg)
c.-69+2737C>G (n.-69+2737C>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.49611936C>TCA376722239CHAT,SLC18A3c.1196C>T (p.Thr399Ile)
c.-69+2737C>T (n.-69+2737C>T)
 COSMIC
10g.49611937A>CCA469791755CHAT,SLC18A3c.1197A>C (p.Thr399=)
c.-69+2738A>C (n.-69+2738A>C)
10g.49611937A>GCA469791756CHAT,SLC18A3c.1197A>G (p.Thr399=)
c.-69+2738A>G (n.-69+2738A>G)
10g.49611937A>TCA469791757CHAT,SLC18A3c.1197A>T (p.Thr399=)
c.-69+2738A>T (n.-69+2738A>T)
 gnomAD v4
10g.49611938G>ACA376722240CHAT,SLC18A3c.1198G>A (p.Ala400Thr)
c.-69+2739G>A (n.-69+2739G>A)
10g.49611938G>CCA376722242CHAT,SLC18A3c.1198G>C (p.Ala400Pro)
c.-69+2739G>C (n.-69+2739G>C)
10g.49611938G>TCA376722241CHAT,SLC18A3c.1198G>T (p.Ala400Ser)
c.-69+2739G>T (n.-69+2739G>T)
10g.49611939C>ACA376722243CHAT,SLC18A3c.1199C>A (p.Ala400Glu)
c.-69+2740C>A (n.-69+2740C>A)
 dbSNP gnomAD v3 gnomAD v4
10g.49611939C=CA1908795060CHAT,SLC18A3c.1199C= (p.Ala400=)
c.-69+2740C= (n.-69+2740C=)
10g.49611939C>GCA376722244CHAT,SLC18A3c.1199C>G (p.Ala400Gly)
c.-69+2740C>G (n.-69+2740C>G)
10g.49611939C>TCA376722245CHAT,SLC18A3c.1199C>T (p.Ala400Val)
c.-69+2740C>T (n.-69+2740C>T)
10g.49611940A=CA1908795061CHAT,SLC18A3c.1200A= (p.Ala400=)
c.-69+2741A= (n.-69+2741A=)
10g.49611940A>CCA469791763CHAT,SLC18A3c.1200A>C (p.Ala400=)
c.-69+2741A>C (n.-69+2741A>C)
 dbSNP gnomAD v2 gnomAD v4
10g.49611940A>GCA469791766CHAT,SLC18A3c.1200A>G (p.Ala400=)
c.-69+2741A>G (n.-69+2741A>G)
 gnomAD v4
10g.49611940A>TCA469791765CHAT,SLC18A3c.1200A>T (p.Ala400=)
c.-69+2741A>T (n.-69+2741A>T)
 ClinVar dbSNP
10g.49611941C>ACA376722246CHAT,SLC18A3c.1201C>A (p.Leu401Met)
c.-69+2742C>A (n.-69+2742C>A)
10g.49611941C>GCA376722247CHAT,SLC18A3c.1201C>G (p.Leu401Val)
c.-69+2742C>G (n.-69+2742C>G)
 gnomAD v4
10g.49611941C>TCA469791768CHAT,SLC18A3c.1201C>T (p.Leu401=)
c.-69+2742C>T (n.-69+2742C>T)
10g.49611942T>ACA376722248CHAT,SLC18A3c.1202T>A (p.Leu401Gln)
c.-69+2743T>A (n.-69+2743T>A)
10g.49611942T>CCA376722249CHAT,SLC18A3c.1202T>C (p.Leu401Pro)
c.-69+2743T>C (n.-69+2743T>C)
 ClinVar
10g.49611942T>GCA376722250CHAT,SLC18A3c.1202T>G (p.Leu401Arg)
c.-69+2743T>G (n.-69+2743T>G)
10g.49611943G>ACA469791775CHAT,SLC18A3c.1203G>A (p.Leu401=)
c.-69+2744G>A (n.-69+2744G>A)
 dbSNP
10g.49611943G>CCA469791774CHAT,SLC18A3c.1203G>C (p.Leu401=)
c.-69+2744G>C (n.-69+2744G>C)
10g.49611943G=CA1908795064CHAT,SLC18A3c.1203G= (p.Leu401=)
c.-69+2744G= (n.-69+2744G=)
10g.49611943G>TCA469791773CHAT,SLC18A3c.1203G>T (p.Leu401=)
c.-69+2744G>T (n.-69+2744G>T)
 gnomAD v4
10g.49611944C>ACA376722251CHAT,SLC18A3c.1204C>A (p.Leu402Met)
c.-69+2745C>A (n.-69+2745C>A)
10g.49611944C>GCA376722252CHAT,SLC18A3c.1204C>G (p.Leu402Val)
c.-69+2745C>G (n.-69+2745C>G)
10g.49611944C>TCA469791777CHAT,SLC18A3c.1204C>T (p.Leu402=)
c.-69+2745C>T (n.-69+2745C>T)
 gnomAD v4
10g.49611945T>ACA376722255CHAT,SLC18A3c.1205T>A (p.Leu402Gln)
c.-69+2746T>A (n.-69+2746T>A)
10g.49611945T>CCA376722254CHAT,SLC18A3c.1205T>C (p.Leu402Pro)
c.-69+2746T>C (n.-69+2746T>C)
10g.49611945T>GCA376722253CHAT,SLC18A3c.1205T>G (p.Leu402Arg)
c.-69+2746T>G (n.-69+2746T>G)
10g.49611946G>ACA469791782CHAT,SLC18A3c.1206G>A (p.Leu402=)
c.-69+2747G>A (n.-69+2747G>A)
 gnomAD v4
10g.49611946G>CCA469791784CHAT,SLC18A3c.1206G>C (p.Leu402=)
c.-69+2747G>C (n.-69+2747G>C)
10g.49611946G=CA1908795069CHAT,SLC18A3c.1206G= (p.Leu402=)
c.-69+2747G= (n.-69+2747G=)
10g.49611946G>TCA469791785CHAT,SLC18A3c.1206G>T (p.Leu402=)
c.-69+2747G>T (n.-69+2747G>T)
 ClinVar dbSNP gnomAD v3 gnomAD v4
10g.49611947C>ACA5496921CHAT,SLC18A3c.1207C>A (p.Pro403Thr)
c.-69+2748C>A (n.-69+2748C>A)
 dbSNP ExAC gnomAD v2
10g.49611947C=CA1908795072CHAT,SLC18A3c.1207C= (p.Pro403=)
c.-69+2748C= (n.-69+2748C=)
10g.49611947C>GCA376722256CHAT,SLC18A3c.1207C>G (p.Pro403Ala)
c.-69+2748C>G (n.-69+2748C>G)
10g.49611947C>TCA376722257CHAT,SLC18A3c.1207C>T (p.Pro403Ser)
c.-69+2748C>T (n.-69+2748C>T)
 gnomAD v4
10g.49611947_49611950delinsCCCACA1908795073CHAT,SLC18A3c.1207_1210delinsCCCA (p.Pro403=)
c.-69+2748_-69+2751delinsCCCA (n.-69+2748_-69+2751delinsCCCA)
10g.49611948C>ACA376722258CHAT,SLC18A3c.1208C>A (p.Pro403His)
c.-69+2749C>A (n.-69+2749C>A)
10g.49611948C>GCA376722259CHAT,SLC18A3c.1208C>G (p.Pro403Arg)
c.-69+2749C>G (n.-69+2749C>G)
10g.49611948C>TCA376722260CHAT,SLC18A3c.1208C>T (p.Pro403Leu)
c.-69+2749C>T (n.-69+2749C>T)
10g.49611949_49611951delCA1908795077CHAT,SLC18A3c.1209_1211del (p.Thr404del)
c.-69+2750_-69+2752del (n.-69+2750_-69+2752del)
 dbSNP
10g.49611949C>ACA469791790CHAT,SLC18A3c.1209C>A (p.Pro403=)
c.-69+2750C>A (n.-69+2750C>A)
10g.49611949C>GCA469791792CHAT,SLC18A3c.1209C>G (p.Pro403=)
c.-69+2750C>G (n.-69+2750C>G)
10g.49611949C>TCA469791791CHAT,SLC18A3c.1209C>T (p.Pro403=)
c.-69+2750C>T (n.-69+2750C>T)
10g.49611950A=CA1908795080CHAT,SLC18A3c.1210A= (p.Thr404=)
c.-69+2751A= (n.-69+2751A=)
10g.49611950A>CCA376722261CHAT,SLC18A3c.1210A>C (p.Thr404Pro)
c.-69+2751A>C (n.-69+2751A>C)
10g.49611950A>GCA376722262CHAT,SLC18A3c.1210A>G (p.Thr404Ala)
c.-69+2751A>G (n.-69+2751A>G)
 ClinVar dbSNP gnomAD v3 gnomAD v4
10g.49611950A>TCA376722263CHAT,SLC18A3c.1210A>T (p.Thr404Ser)
c.-69+2751A>T (n.-69+2751A>T)
10g.49611950_49611951insTGTGTCA1908795084CHAT,SLC18A3c.1210_1211insTGTGT (p.Thr404MetfsTer?)
c.-69+2751_-69+2752insTGTGT (n.-69+2751_-69+2752insTGTGT)
 dbSNP
10g.49611951C>ACA376722265CHAT,SLC18A3c.1211C>A (p.Thr404Lys)
c.-69+2752C>A (n.-69+2752C>A)
 gnomAD v4
10g.49611951C>GCA376722278CHAT,SLC18A3c.1211C>G (p.Thr404Arg)
c.-69+2752C>G (n.-69+2752C>G)
10g.49611951C>TCA376722282CHAT,SLC18A3c.1211C>T (p.Thr404Met)
c.-69+2752C>T (n.-69+2752C>T)
 dbSNP gnomAD v3 gnomAD v4 COSMIC
10g.49611952G>ACA469791797CHAT,SLC18A3c.1212G>A (p.Thr404=)
c.-69+2753G>A (n.-69+2753G>A)
 gnomAD v4
10g.49611952G>CCA469791799CHAT,SLC18A3c.1212G>C (p.Thr404=)
c.-69+2753G>C (n.-69+2753G>C)
 dbSNP gnomAD v3 gnomAD v4
10g.49611952G=CA1908795087CHAT,SLC18A3c.1212G= (p.Thr404=)
c.-69+2753G= (n.-69+2753G=)
10g.49611952G>TCA469791800CHAT,SLC18A3c.1212G>T (p.Thr404=)
c.-69+2753G>T (n.-69+2753G>T)
 ClinVar dbSNP gnomAD v4
10g.49611953C>ACA376722289CHAT,SLC18A3c.1213C>A (p.Leu405Ile)
c.-69+2754C>A (n.-69+2754C>A)
 gnomAD v4
10g.49611953C>GCA376722291CHAT,SLC18A3c.1213C>G (p.Leu405Val)
c.-69+2754C>G (n.-69+2754C>G)
10g.49611953C>TCA376722286CHAT,SLC18A3c.1213C>T (p.Leu405Phe)
c.-69+2754C>T (n.-69+2754C>T)
10g.49611954T>ACA376722293CHAT,SLC18A3c.1214T>A (p.Leu405His)
c.-69+2755T>A (n.-69+2755T>A)
10g.49611954T>CCA376722296CHAT,SLC18A3c.1214T>C (p.Leu405Pro)
c.-69+2755T>C (n.-69+2755T>C)
10g.49611954T>GCA376722299CHAT,SLC18A3c.1214T>G (p.Leu405Arg)
c.-69+2755T>G (n.-69+2755T>G)
10g.49611955C>ACA469791808CHAT,SLC18A3c.1215C>A (p.Leu405=)
c.-69+2756C>A (n.-69+2756C>A)
 gnomAD v4
10g.49611955C=CA1908795090CHAT,SLC18A3c.1215C= (p.Leu405=)
c.-69+2756C= (n.-69+2756C=)
10g.49611955C>GCA469791836CHAT,SLC18A3c.1215C>G (p.Leu405=)
c.-69+2756C>G (n.-69+2756C>G)
 dbSNP gnomAD v3 gnomAD v4
10g.49611955C>TCA5496922CHAT,SLC18A3c.1215C>T (p.Leu405=)
c.-69+2756C>T (n.-69+2756C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.49611956G>ACA376722308CHAT,SLC18A3c.1216G>A (p.Ala406Thr)
c.-69+2757G>A (n.-69+2757G>A)
 COSMIC
10g.49611956G>CCA376722311CHAT,SLC18A3c.1216G>C (p.Ala406Pro)
c.-69+2757G>C (n.-69+2757G>C)
10g.49611956G=CA1908795092CHAT,SLC18A3c.1216G= (p.Ala406=)
c.-69+2757G= (n.-69+2757G=)
10g.49611956G>TCA376722314CHAT,SLC18A3c.1216G>T (p.Ala406Ser)
c.-69+2757G>T (n.-69+2757G>T)
 dbSNP
10g.49611957C>ACA376722318CHAT,SLC18A3c.1217C>A (p.Ala406Asp)
c.-69+2758C>A (n.-69+2758C>A)
10g.49611957C=CA1908795097CHAT,SLC18A3c.1217C= (p.Ala406=)
c.-69+2758C= (n.-69+2758C=)
10g.49611957C>GCA376722321CHAT,SLC18A3c.1217C>G (p.Ala406Gly)
c.-69+2758C>G (n.-69+2758C>G)
10g.49611957C>TCA5496923CHAT,SLC18A3c.1217C>T (p.Ala406Val)
c.-69+2758C>T (n.-69+2758C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.49611958C>ACA469791845CHAT,SLC18A3c.1218C>A (p.Ala406=)
c.-69+2759C>A (n.-69+2759C>A)
10g.49611958C>GCA469791843CHAT,SLC18A3c.1218C>G (p.Ala406=)
c.-69+2759C>G (n.-69+2759C>G)
10g.49611958C>TCA469791844CHAT,SLC18A3c.1218C>T (p.Ala406=)
c.-69+2759C>T (n.-69+2759C>T)
 gnomAD v4
10g.49611959T>ACA376722327CHAT,SLC18A3c.1219T>A (p.Phe407Ile)
c.-69+2760T>A (n.-69+2760T>A)
10g.49611959T>CCA376722330CHAT,SLC18A3c.1219T>C (p.Phe407Leu)
c.-69+2760T>C (n.-69+2760T>C)
10g.49611959T>GCA376722332CHAT,SLC18A3c.1219T>G (p.Phe407Val)
c.-69+2760T>G (n.-69+2760T>G)
10g.49611960T>ACA376722340CHAT,SLC18A3c.1220T>A (p.Phe407Tyr)
c.-69+2761T>A (n.-69+2761T>A)
10g.49611960T>CCA376722338CHAT,SLC18A3c.1220T>C (p.Phe407Ser)
c.-69+2761T>C (n.-69+2761T>C)
 dbSNP gnomAD v2 gnomAD v4
10g.49611960T>GCA376722336CHAT,SLC18A3c.1220T>G (p.Phe407Cys)
c.-69+2761T>G (n.-69+2761T>G)
10g.49611960T=CA1908795104CHAT,SLC18A3c.1220T= (p.Phe407=)
c.-69+2761T= (n.-69+2761T=)
10g.49611961C>ACA376722343CHAT,SLC18A3c.1221C>A (p.Phe407Leu)
c.-69+2762C>A (n.-69+2762C>A)
10g.49611961C=CA1908795110CHAT,SLC18A3c.1221C= (p.Phe407=)
c.-69+2762C= (n.-69+2762C=)
10g.49611961C>GCA376722346CHAT,SLC18A3c.1221C>G (p.Phe407Leu)
c.-69+2762C>G (n.-69+2762C>G)
10g.49611961C>TCA469791846CHAT,SLC18A3c.1221C>T (p.Phe407=)
c.-69+2762C>T (n.-69+2762C>T)
 dbSNP gnomAD v4 COSMIC
10g.49611962C>ACA376722348CHAT,SLC18A3c.1222C>A (p.Leu408Met)
c.-69+2763C>A (n.-69+2763C>A)
10g.49611962C>GCA376722352CHAT,SLC18A3c.1222C>G (p.Leu408Val)
c.-69+2763C>G (n.-69+2763C>G)
10g.49611962C>TCA469791850CHAT,SLC18A3c.1222C>T (p.Leu408=)
c.-69+2763C>T (n.-69+2763C>T)
10g.49611963T>ACA376722357CHAT,SLC18A3c.1223T>A (p.Leu408Gln)
c.-69+2764T>A (n.-69+2764T>A)
10g.49611963T>CCA376722359CHAT,SLC18A3c.1223T>C (p.Leu408Pro)
c.-69+2764T>C (n.-69+2764T>C)
10g.49611963T>GCA376722362CHAT,SLC18A3c.1223T>G (p.Leu408Arg)
c.-69+2764T>G (n.-69+2764T>G)
10g.49611964G>ACA469791854CHAT,SLC18A3c.1224G>A (p.Leu408=)
c.-69+2765G>A (n.-69+2765G>A)
10g.49611964G>CCA469791857CHAT,SLC18A3c.1224G>C (p.Leu408=)
c.-69+2765G>C (n.-69+2765G>C)
10g.49611964G>TCA469791856CHAT,SLC18A3c.1224G>T (p.Leu408=)
c.-69+2765G>T (n.-69+2765G>T)
10g.49611965G>ACA376722366CHAT,SLC18A3c.1225G>A (p.Val409Met)
c.-69+2766G>A (n.-69+2766G>A)
10g.49611965G>CCA376722368CHAT,SLC18A3c.1225G>C (p.Val409Leu)
c.-69+2766G>C (n.-69+2766G>C)
10g.49611965G>TCA376722371CHAT,SLC18A3c.1225G>T (p.Val409Leu)
c.-69+2766G>T (n.-69+2766G>T)
10g.49611966T>ACA376722376CHAT,SLC18A3c.1226T>A (p.Val409Glu)
c.-69+2767T>A (n.-69+2767T>A)
10g.49611966T>CCA376722379CHAT,SLC18A3c.1226T>C (p.Val409Ala)
c.-69+2767T>C (n.-69+2767T>C)
10g.49611966T>GCA376722381CHAT,SLC18A3c.1226T>G (p.Val409Gly)
c.-69+2767T>G (n.-69+2767T>G)
10g.49611967G>ACA469791867CHAT,SLC18A3c.1227G>A (p.Val409=)
c.-69+2768G>A (n.-69+2768G>A)
10g.49611967G>CCA469791865CHAT,SLC18A3c.1227G>C (p.Val409=)
c.-69+2768G>C (n.-69+2768G>C)
10g.49611967G>TCA469791864CHAT,SLC18A3c.1227G>T (p.Val409=)
c.-69+2768G>T (n.-69+2768G>T)
10g.49611968G>ACA206621449CHAT,SLC18A3c.1228G>A (p.Asp410Asn)
c.-69+2769G>A (n.-69+2769G>A)
 dbSNP
10g.49611968G>CCA376722393CHAT,SLC18A3c.1228G>C (p.Asp410His)
c.-69+2769G>C (n.-69+2769G>C)
10g.49611968G=CA1908795114CHAT,SLC18A3c.1228G= (p.Asp410=)
c.-69+2769G= (n.-69+2769G=)
10g.49611968G>TCA376722390CHAT,SLC18A3c.1228G>T (p.Asp410Tyr)
c.-69+2769G>T (n.-69+2769G>T)
10g.49611969A>CCA376722396CHAT,SLC18A3c.1229A>C (p.Asp410Ala)
c.-69+2770A>C (n.-69+2770A>C)
10g.49611969A>GCA376722397CHAT,SLC18A3c.1229A>G (p.Asp410Gly)
c.-69+2770A>G (n.-69+2770A>G)
10g.49611969A>TCA376722400CHAT,SLC18A3c.1229A>T (p.Asp410Val)
c.-69+2770A>T (n.-69+2770A>T)
10g.49611970C>ACA376722403CHAT,SLC18A3c.1230C>A (p.Asp410Glu)
c.-69+2771C>A (n.-69+2771C>A)
 gnomAD v4
10g.49611970C=CA1908795116CHAT,SLC18A3c.1230C= (p.Asp410=)
c.-69+2771C= (n.-69+2771C=)
10g.49611970C>GCA376722406CHAT,SLC18A3c.1230C>G (p.Asp410Glu)
c.-69+2771C>G (n.-69+2771C>G)
10g.49611970C>TCA469791870CHAT,SLC18A3c.1230C>T (p.Asp410=)
c.-69+2771C>T (n.-69+2771C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
10g.49611971G>ACA376722410CHAT,SLC18A3c.1231G>A (p.Val411Met)
c.-69+2772G>A (n.-69+2772G>A)
 dbSNP gnomAD v2 gnomAD v4 COSMIC
10g.49611971G>CCA376722413CHAT,SLC18A3c.1231G>C (p.Val411Leu)
c.-69+2772G>C (n.-69+2772G>C)
10g.49611971G=CA1908795118CHAT,SLC18A3c.1231G= (p.Val411=)
c.-69+2772G= (n.-69+2772G=)
10g.49611971G>TCA376722415CHAT,SLC18A3c.1231G>T (p.Val411Leu)
c.-69+2772G>T (n.-69+2772G>T)
 gnomAD v4
10g.49611972T>ACA376722420CHAT,SLC18A3c.1232T>A (p.Val411Glu)
c.-69+2773T>A (n.-69+2773T>A)
10g.49611972T>CCA206621453CHAT,SLC18A3c.1232T>C (p.Val411Ala)
c.-69+2773T>C (n.-69+2773T>C)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.49611972T>GCA376722424CHAT,SLC18A3c.1232T>G (p.Val411Gly)
c.-69+2773T>G (n.-69+2773T>G)
10g.49611972T=CA1908795122CHAT,SLC18A3c.1232T= (p.Val411=)
c.-69+2773T= (n.-69+2773T=)
10g.49611973G>ACA469791882CHAT,SLC18A3c.1233G>A (p.Val411=)
c.-69+2774G>A (n.-69+2774G>A)
10g.49611973G>CCA469791879CHAT,SLC18A3c.1233G>C (p.Val411=)
c.-69+2774G>C (n.-69+2774G>C)
10g.49611973G>TCA469791881CHAT,SLC18A3c.1233G>T (p.Val411=)
c.-69+2774G>T (n.-69+2774G>T)
10g.49611974C>ACA5496924CHAT,SLC18A3c.1234C>A (p.Arg412Ser)
c.-69+2775C>A (n.-69+2775C>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.49611974C=CA1908795125CHAT,SLC18A3c.1234C= (p.Arg412=)
c.-69+2775C= (n.-69+2775C=)
10g.49611974C>GCA376722428CHAT,SLC18A3c.1234C>G (p.Arg412Gly)
c.-69+2775C>G (n.-69+2775C>G)
10g.49611974C>TCA376722430CHAT,SLC18A3c.1234C>T (p.Arg412Cys)
c.-69+2775C>T (n.-69+2775C>T)
 dbSNP gnomAD v2
10g.49611975G>ACA5496925CHAT,SLC18A3c.1235G>A (p.Arg412His)
c.-69+2776G>A (n.-69+2776G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
10g.49611975G>CCA376722441CHAT,SLC18A3c.1235G>C (p.Arg412Pro)
c.-69+2776G>C (n.-69+2776G>C)
10g.49611975G=CA1908795130CHAT,SLC18A3c.1235G= (p.Arg412=)
c.-69+2776G= (n.-69+2776G=)
10g.49611975G>TCA376722438CHAT,SLC18A3c.1235G>T (p.Arg412Leu)
c.-69+2776G>T (n.-69+2776G>T)
10g.49611976C>ACA469791888CHAT,SLC18A3c.1236C>A (p.Arg412=)
c.-69+2777C>A (n.-69+2777C>A)
10g.49611976C>GCA469791891CHAT,SLC18A3c.1236C>G (p.Arg412=)
c.-69+2777C>G (n.-69+2777C>G)
10g.49611976C>TCA469791890CHAT,SLC18A3c.1236C>T (p.Arg412=)
c.-69+2777C>T (n.-69+2777C>T)
 COSMIC
10g.49611977C>ACA376722446CHAT,SLC18A3c.1237C>A (p.His413Asn)
c.-69+2778C>A (n.-69+2778C>A)
 gnomAD v4
10g.49611977C>GCA376722448CHAT,SLC18A3c.1237C>G (p.His413Asp)
c.-69+2778C>G (n.-69+2778C>G)
10g.49611977C>TCA376722453CHAT,SLC18A3c.1237C>T (p.His413Tyr)
c.-69+2778C>T (n.-69+2778C>T)
10g.49611978A>CCA376722458CHAT,SLC18A3c.1238A>C (p.His413Pro)
c.-69+2779A>C (n.-69+2779A>C)
10g.49611978A>GCA376722460CHAT,SLC18A3c.1238A>G (p.His413Arg)
c.-69+2779A>G (n.-69+2779A>G)
10g.49611978A>TCA376722463CHAT,SLC18A3c.1238A>T (p.His413Leu)
c.-69+2779A>T (n.-69+2779A>T)
10g.49611979T>ACA376722467CHAT,SLC18A3c.1239T>A (p.His413Gln)
c.-69+2780T>A (n.-69+2780T>A)
10g.49611979T>CCA469791898CHAT,SLC18A3c.1239T>C (p.His413=)
c.-69+2780T>C (n.-69+2780T>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.49611979T>GCA376722470CHAT,SLC18A3c.1239T>G (p.His413Gln)
c.-69+2780T>G (n.-69+2780T>G)
10g.49611979T=CA1908795133CHAT,SLC18A3c.1239T= (p.His413=)
c.-69+2780T= (n.-69+2780T=)
10g.49611980G>ACA376722474CHAT,SLC18A3c.1240G>A (p.Val414Ile)
c.-69+2781G>A (n.-69+2781G>A)
 ClinVar dbSNP
10g.49611980G>CCA376722477CHAT,SLC18A3c.1240G>C (p.Val414Leu)
c.-69+2781G>C (n.-69+2781G>C)
10g.49611980G>TCA376722479CHAT,SLC18A3c.1240G>T (p.Val414Phe)
c.-69+2781G>T (n.-69+2781G>T)
10g.49611981T>ACA376722483CHAT,SLC18A3c.1241T>A (p.Val414Asp)
c.-69+2782T>A (n.-69+2782T>A)
10g.49611981T>CCA376722485CHAT,SLC18A3c.1241T>C (p.Val414Ala)
c.-69+2782T>C (n.-69+2782T>C)
10g.49611981T>GCA376722488CHAT,SLC18A3c.1241T>G (p.Val414Gly)
c.-69+2782T>G (n.-69+2782T>G)
10g.49611982C>ACA469791903CHAT,SLC18A3c.1242C>A (p.Val414=)
c.-69+2783C>A (n.-69+2783C>A)
10g.49611982C>GCA469791904CHAT,SLC18A3c.1242C>G (p.Val414=)
c.-69+2783C>G (n.-69+2783C>G)
10g.49611982C>TCA469791902CHAT,SLC18A3c.1242C>T (p.Val414=)
c.-69+2783C>T (n.-69+2783C>T)
 gnomAD v4 COSMIC
10g.49611983T>ACA376722494CHAT,SLC18A3c.1243T>A (p.Ser415Thr)
c.-69+2784T>A (n.-69+2784T>A)
10g.49611983T>CCA376722496CHAT,SLC18A3c.1243T>C (p.Ser415Pro)
c.-69+2784T>C (n.-69+2784T>C)
10g.49611983T>GCA376722491CHAT,SLC18A3c.1243T>G (p.Ser415Ala)
c.-69+2784T>G (n.-69+2784T>G)
10g.49611984C>ACA376722499CHAT,SLC18A3c.1244C>A (p.Ser415Ter)
c.-69+2785C>A (n.-69+2785C>A)
10g.49611984C>GCA376722504CHAT,SLC18A3c.1244C>G (p.Ser415Ter)
c.-69+2785C>G (n.-69+2785C>G)
10g.49611984C>TCA376722505CHAT,SLC18A3c.1244C>T (p.Ser415Leu)
c.-69+2785C>T (n.-69+2785C>T)
10g.49611984_49611985delCA2609117487CHAT,SLC18A3c.1244_1245del (p.Ser415CysfsTer?)
c.-69+2785_-69+2786del (n.-69+2785_-69+2786del)
 gnomAD v4
10g.49611985delCA2574545164CHAT,SLC18A3c.1245del (p.Val416SerfsTer22)
c.-69+2786del (n.-69+2786del)
 gnomAD v4
10g.49611985A>CCA469791912CHAT,SLC18A3c.1245A>C (p.Ser415=)
c.-69+2786A>C (n.-69+2786A>C)
10g.49611985A>GCA469791913CHAT,SLC18A3c.1245A>G (p.Ser415=)
c.-69+2786A>G (n.-69+2786A>G)
10g.49611985A>TCA469791910CHAT,SLC18A3c.1245A>T (p.Ser415=)
c.-69+2786A>T (n.-69+2786A>T)
10g.49611986G>ACA376722508CHAT,SLC18A3c.1246G>A (p.Val416Ile)
c.-69+2787G>A (n.-69+2787G>A)
10g.49611986G>CCA376722509CHAT,SLC18A3c.1246G>C (p.Val416Leu)
c.-69+2787G>C (n.-69+2787G>C)
10g.49611986G>TCA376722511CHAT,SLC18A3c.1246G>T (p.Val416Phe)
c.-69+2787G>T (n.-69+2787G>T)
 COSMIC
10g.49611987T>ACA376722515CHAT,SLC18A3c.1247T>A (p.Val416Asp)
c.-69+2788T>A (n.-69+2788T>A)
10g.49611987T>CCA376722517CHAT,SLC18A3c.1247T>C (p.Val416Ala)
c.-69+2788T>C (n.-69+2788T>C)
10g.49611987T>GCA376722520CHAT,SLC18A3c.1247T>G (p.Val416Gly)
c.-69+2788T>G (n.-69+2788T>G)
10g.49611988C>ACA469791931CHAT,SLC18A3c.1248C>A (p.Val416=)
c.-69+2789C>A (n.-69+2789C>A)
 dbSNP gnomAD v4
10g.49611988C=CA1908795135CHAT,SLC18A3c.1248C= (p.Val416=)
c.-69+2789C= (n.-69+2789C=)
10g.49611988C>GCA5496926CHAT,SLC18A3c.1248C>G (p.Val416=)
c.-69+2789C>G (n.-69+2789C>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.49611988C>TCA469791930CHAT,SLC18A3c.1248C>T (p.Val416=)
c.-69+2789C>T (n.-69+2789C>T)
10g.49611989T>ACA376722526CHAT,SLC18A3c.1249T>A (p.Tyr417Asn)
c.-69+2790T>A (n.-69+2790T>A)
10g.49611989T>CCA376722529CHAT,SLC18A3c.1249T>C (p.Tyr417His)
c.-69+2790T>C (n.-69+2790T>C)
10g.49611989T>GCA376722533CHAT,SLC18A3c.1249T>G (p.Tyr417Asp)
c.-69+2790T>G (n.-69+2790T>G)
10g.49611990A>CCA376722541CHAT,SLC18A3c.1250A>C (p.Tyr417Ser)
c.-69+2791A>C (n.-69+2791A>C)
10g.49611990A>GCA376722537CHAT,SLC18A3c.1250A>G (p.Tyr417Cys)
c.-69+2791A>G (n.-69+2791A>G)
10g.49611990A>TCA376722540CHAT,SLC18A3c.1250A>T (p.Tyr417Phe)
c.-69+2791A>T (n.-69+2791A>T)
 COSMIC
10g.49611991T>ACA376722546CHAT,SLC18A3c.1251T>A (p.Tyr417Ter)
c.-69+2792T>A (n.-69+2792T>A)
10g.49611991T>CCA5496927CHAT,SLC18A3c.1251T>C (p.Tyr417=)
c.-69+2792T>C (n.-69+2792T>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.49611991T>GCA376722552CHAT,SLC18A3c.1251T>G (p.Tyr417Ter)
c.-69+2792T>G (n.-69+2792T>G)
10g.49611991T=CA1908795143CHAT,SLC18A3c.1251T= (p.Tyr417=)
c.-69+2792T= (n.-69+2792T=)
10g.49611992G>ACA376722556CHAT,SLC18A3c.1252G>A (p.Gly418Ser)
c.-69+2793G>A (n.-69+2793G>A)
10g.49611992G>CCA376722558CHAT,SLC18A3c.1252G>C (p.Gly418Arg)
c.-69+2793G>C (n.-69+2793G>C)
10g.49611992G>TCA376722562CHAT,SLC18A3c.1252G>T (p.Gly418Cys)
c.-69+2793G>T (n.-69+2793G>T)
10g.49611993G>ACA5496928CHAT,SLC18A3c.1253G>A (p.Gly418Asp)
c.-69+2794G>A (n.-69+2794G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.49611993G>CCA376722569CHAT,SLC18A3c.1253G>C (p.Gly418Ala)
c.-69+2794G>C (n.-69+2794G>C)
10g.49611993G=CA1908795153CHAT,SLC18A3c.1253G= (p.Gly418=)
c.-69+2794G= (n.-69+2794G=)
10g.49611993G>TCA376722572CHAT,SLC18A3c.1253G>T (p.Gly418Val)
c.-69+2794G>T (n.-69+2794G>T)
10g.49611994C>ACA469791956CHAT,SLC18A3c.1254C>A (p.Gly418=)
c.-69+2795C>A (n.-69+2795C>A)
10g.49611994C>GCA469791958CHAT,SLC18A3c.1254C>G (p.Gly418=)
c.-69+2795C>G (n.-69+2795C>G)
10g.49611994C>TCA469791960CHAT,SLC18A3c.1254C>T (p.Gly418=)
c.-69+2795C>T (n.-69+2795C>T)
10g.49611995A>CCA376722576CHAT,SLC18A3c.1255A>C (p.Ser419Arg)
c.-69+2796A>C (n.-69+2796A>C)
10g.49611995A>GCA376722578CHAT,SLC18A3c.1255A>G (p.Ser419Gly)
c.-69+2796A>G (n.-69+2796A>G)
10g.49611995A>TCA376722583CHAT,SLC18A3c.1255A>T (p.Ser419Cys)
c.-69+2796A>T (n.-69+2796A>T)
10g.49611996G>ACA376722586CHAT,SLC18A3c.1256G>A (p.Ser419Asn)
c.-69+2797G>A (n.-69+2797G>A)
10g.49611996G>CCA376722589CHAT,SLC18A3c.1256G>C (p.Ser419Thr)
c.-69+2797G>C (n.-69+2797G>C)
10g.49611996G>TCA376722588CHAT,SLC18A3c.1256G>T (p.Ser419Ile)
c.-69+2797G>T (n.-69+2797G>T)
10g.49611997C>ACA376722595CHAT,SLC18A3c.1257C>A (p.Ser419Arg)
c.-69+2798C>A (n.-69+2798C>A)
10g.49611997C>GCA376722596CHAT,SLC18A3c.1257C>G (p.Ser419Arg)
c.-69+2798C>G (n.-69+2798C>G)
10g.49611997C>TCA469791981CHAT,SLC18A3c.1257C>T (p.Ser419=)
c.-69+2798C>T (n.-69+2798C>T)
 COSMIC
10g.49611998G>ACA376722600CHAT,SLC18A3c.1258G>A (p.Val420Ile)
c.-69+2799G>A (n.-69+2799G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.49611998G>CCA376722604CHAT,SLC18A3c.1258G>C (p.Val420Leu)
c.-69+2799G>C (n.-69+2799G>C)
10g.49611998G=CA1908795156CHAT,SLC18A3c.1258G= (p.Val420=)
c.-69+2799G= (n.-69+2799G=)
10g.49611998G>TCA376722607CHAT,SLC18A3c.1258G>T (p.Val420Phe)
c.-69+2799G>T (n.-69+2799G>T)
10g.49611999T>ACA376722612CHAT,SLC18A3c.1259T>A (p.Val420Asp)
c.-69+2800T>A (n.-69+2800T>A)
10g.49611999T>CCA376722614CHAT,SLC18A3c.1259T>C (p.Val420Ala)
c.-69+2800T>C (n.-69+2800T>C)
10g.49611999T>GCA376722618CHAT,SLC18A3c.1259T>G (p.Val420Gly)
c.-69+2800T>G (n.-69+2800T>G)
 dbSNP
10g.49611999T=CA1908795159CHAT,SLC18A3c.1259T= (p.Val420=)
c.-69+2800T= (n.-69+2800T=)
10g.49612000C>ACA469792004CHAT,SLC18A3c.1260C>A (p.Val420=)
c.-69+2801C>A (n.-69+2801C>A)
10g.49612000C>GCA469791993CHAT,SLC18A3c.1260C>G (p.Val420=)
c.-69+2801C>G (n.-69+2801C>G)
 gnomAD v4
10g.49612000C>TCA469791990CHAT,SLC18A3c.1260C>T (p.Val420=)
c.-69+2801C>T (n.-69+2801C>T)
10g.49612001T>ACA376722621CHAT,SLC18A3c.1261T>A (p.Tyr421Asn)
c.-69+2802T>A (n.-69+2802T>A)
10g.49612001T>CCA376722624CHAT,SLC18A3c.1261T>C (p.Tyr421His)
c.-69+2802T>C (n.-69+2802T>C)
 dbSNP gnomAD v3 gnomAD v4
10g.49612001T>GCA376722628CHAT,SLC18A3c.1261T>G (p.Tyr421Asp)
c.-69+2802T>G (n.-69+2802T>G)
10g.49612001T=CA1908795160CHAT,SLC18A3c.1261T= (p.Tyr421=)
c.-69+2802T= (n.-69+2802T=)
10g.49612002A>CCA376722632CHAT,SLC18A3c.1262A>C (p.Tyr421Ser)
c.-69+2803A>C (n.-69+2803A>C)
10g.49612002A>GCA376722635CHAT,SLC18A3c.1262A>G (p.Tyr421Cys)
c.-69+2803A>G (n.-69+2803A>G)
10g.49612002A>TCA376722637CHAT,SLC18A3c.1262A>T (p.Tyr421Phe)
c.-69+2803A>T (n.-69+2803A>T)
10g.49612003C>ACA376722647CHAT,SLC18A3c.1263C>A (p.Tyr421Ter)
c.-69+2804C>A (n.-69+2804C>A)
10g.49612003C=CA1908795163CHAT,SLC18A3c.1263C= (p.Tyr421=)
c.-69+2804C= (n.-69+2804C=)
10g.49612003C>GCA376722643CHAT,SLC18A3c.1263C>G (p.Tyr421Ter)
c.-69+2804C>G (n.-69+2804C>G)
10g.49612003C>TCA469792017CHAT,SLC18A3c.1263C>T (p.Tyr421=)
c.-69+2804C>T (n.-69+2804C>T)
 dbSNP gnomAD v2 COSMIC
10g.49612004G>ACA376722651CHAT,SLC18A3c.1264G>A (p.Ala422Thr)
c.-69+2805G>A (n.-69+2805G>A)
 dbSNP
10g.49612004G>CCA376722654CHAT,SLC18A3c.1264G>C (p.Ala422Pro)
c.-69+2805G>C (n.-69+2805G>C)
10g.49612004G=CA1908795167CHAT,SLC18A3c.1264G= (p.Ala422=)
c.-69+2805G= (n.-69+2805G=)
10g.49612004G>TCA376722658CHAT,SLC18A3c.1264G>T (p.Ala422Ser)
c.-69+2805G>T (n.-69+2805G>T)
10g.49612005C>ACA376722663CHAT,SLC18A3c.1265C>A (p.Ala422Asp)
c.-69+2806C>A (n.-69+2806C>A)
10g.49612005C=CA1908795169CHAT,SLC18A3c.1265C= (p.Ala422=)
c.-69+2806C= (n.-69+2806C=)
10g.49612005C>GCA5496929CHAT,SLC18A3c.1265C>G (p.Ala422Gly)
c.-69+2806C>G (n.-69+2806C>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.49612005C>TCA376722668CHAT,SLC18A3c.1265C>T (p.Ala422Val)
c.-69+2806C>T (n.-69+2806C>T)
 dbSNP gnomAD v2
10g.49612006C>ACA469792029CHAT,SLC18A3c.1266C>A (p.Ala422=)
c.-69+2807C>A (n.-69+2807C>A)
10g.49612006C>GCA469792030CHAT,SLC18A3c.1266C>G (p.Ala422=)
c.-69+2807C>G (n.-69+2807C>G)
10g.49612006C>TCA469792031CHAT,SLC18A3c.1266C>T (p.Ala422=)
c.-69+2807C>T (n.-69+2807C>T)
10g.49612007A=CA1908795175CHAT,SLC18A3c.1267A= (p.Ile423=)
c.-69+2808A= (n.-69+2808A=)
10g.49612007A>CCA376722671CHAT,SLC18A3c.1267A>C (p.Ile423Leu)
c.-69+2808A>C (n.-69+2808A>C)
 dbSNP
10g.49612007A>GCA376722674CHAT,SLC18A3c.1267A>G (p.Ile423Val)
c.-69+2808A>G (n.-69+2808A>G)
10g.49612007A>TCA376722675CHAT,SLC18A3c.1267A>T (p.Ile423Phe)
c.-69+2808A>T (n.-69+2808A>T)
10g.49612008T>ACA376722680CHAT,SLC18A3c.1268T>A (p.Ile423Asn)
c.-69+2809T>A (n.-69+2809T>A)
10g.49612008T>CCA376722683CHAT,SLC18A3c.1268T>C (p.Ile423Thr)
c.-69+2809T>C (n.-69+2809T>C)
10g.49612008T>GCA376722685CHAT,SLC18A3c.1268T>G (p.Ile423Ser)
c.-69+2809T>G (n.-69+2809T>G)
10g.49612009C>ACA469792040CHAT,SLC18A3c.1269C>A (p.Ile423=)
c.-69+2810C>A (n.-69+2810C>A)
10g.49612009C=CA1908795178CHAT,SLC18A3c.1269C= (p.Ile423=)
c.-69+2810C= (n.-69+2810C=)
10g.49612009C>GCA5496931CHAT,SLC18A3c.1269C>G (p.Ile423Met)
c.-69+2810C>G (n.-69+2810C>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.49612009C>TCA5496930CHAT,SLC18A3c.1269C>T (p.Ile423=)
c.-69+2810C>T (n.-69+2810C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
10g.49612010G>ACA5496932CHAT,SLC18A3c.1270G>A (p.Ala424Thr)
c.-69+2811G>A (n.-69+2811G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
10g.49612010G>CCA376722698CHAT,SLC18A3c.1270G>C (p.Ala424Pro)
c.-69+2811G>C (n.-69+2811G>C)
10g.49612010G=CA1908795184CHAT,SLC18A3c.1270G= (p.Ala424=)
c.-69+2811G= (n.-69+2811G=)
10g.49612010G>TCA376722701CHAT,SLC18A3c.1270G>T (p.Ala424Ser)
c.-69+2811G>T (n.-69+2811G>T)
 gnomAD v4
10g.49612011C>ACA376722705CHAT,SLC18A3c.1271C>A (p.Ala424Asp)
c.-69+2812C>A (n.-69+2812C>A)
10g.49612011C>GCA376722708CHAT,SLC18A3c.1271C>G (p.Ala424Gly)
c.-69+2812C>G (n.-69+2812C>G)
10g.49612011C>TCA376722711CHAT,SLC18A3c.1271C>T (p.Ala424Val)
c.-69+2812C>T (n.-69+2812C>T)
10g.49612012C>ACA469792048CHAT,SLC18A3c.1272C>A (p.Ala424=)
c.-69+2813C>A (n.-69+2813C>A)
10g.49612012C=CA1908795187CHAT,SLC18A3c.1272C= (p.Ala424=)
c.-69+2813C= (n.-69+2813C=)
10g.49612012C>GCA469792047CHAT,SLC18A3c.1272C>G (p.Ala424=)
c.-69+2813C>G (n.-69+2813C>G)
 dbSNP gnomAD v2 gnomAD v4
10g.49612012C>TCA469792050CHAT,SLC18A3c.1272C>T (p.Ala424=)
c.-69+2813C>T (n.-69+2813C>T)
 gnomAD v4
10g.49612013G>ACA376722720CHAT,SLC18A3c.1273G>A (p.Asp425Asn)
c.-69+2814G>A (n.-69+2814G>A)
 dbSNP gnomAD v3 gnomAD v4
10g.49612013G>CCA376722716CHAT,SLC18A3c.1273G>C (p.Asp425His)
c.-69+2814G>C (n.-69+2814G>C)
10g.49612013G=CA1908795190CHAT,SLC18A3c.1273G= (p.Asp425=)
c.-69+2814G= (n.-69+2814G=)
10g.49612013G>TCA376722717CHAT,SLC18A3c.1273G>T (p.Asp425Tyr)
c.-69+2814G>T (n.-69+2814G>T)
10g.49612014A>CCA376722723CHAT,SLC18A3c.1274A>C (p.Asp425Ala)
c.-69+2815A>C (n.-69+2815A>C)
10g.49612014A>GCA376722726CHAT,SLC18A3c.1274A>G (p.Asp425Gly)
c.-69+2815A>G (n.-69+2815A>G)
 gnomAD v4
10g.49612014A>TCA376722729CHAT,SLC18A3c.1274A>T (p.Asp425Val)
c.-69+2815A>T (n.-69+2815A>T)
10g.49612015C>ACA376722733CHAT,SLC18A3c.1275C>A (p.Asp425Glu)
c.-69+2816C>A (n.-69+2816C>A)
10g.49612015C=CA1908795194CHAT,SLC18A3c.1275C= (p.Asp425=)
c.-69+2816C= (n.-69+2816C=)
10g.49612015C>GCA376722734CHAT,SLC18A3c.1275C>G (p.Asp425Glu)
c.-69+2816C>G (n.-69+2816C>G)
10g.49612015C>TCA469792056CHAT,SLC18A3c.1275C>T (p.Asp425=)
c.-69+2816C>T (n.-69+2816C>T)
 dbSNP gnomAD v4
10g.49612016A=CA1908795206CHAT,SLC18A3c.1276A= (p.Ile426=)
c.-69+2817A= (n.-69+2817A=)
10g.49612016A>CCA376722738CHAT,SLC18A3c.1276A>C (p.Ile426Leu)
c.-69+2817A>C (n.-69+2817A>C)
10g.49612016A>GCA5496933CHAT,SLC18A3c.1276A>G (p.Ile426Val)
c.-69+2817A>G (n.-69+2817A>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.49612016A>TCA5496934CHAT,SLC18A3c.1276A>T (p.Ile426Phe)
c.-69+2817A>T (n.-69+2817A>T)
 dbSNP ExAC gnomAD v2
10g.49612017T>ACA376722739CHAT,SLC18A3c.1277T>A (p.Ile426Asn)
c.-69+2818T>A (n.-69+2818T>A)
10g.49612017T>CCA376722740CHAT,SLC18A3c.1277T>C (p.Ile426Thr)
c.-69+2818T>C (n.-69+2818T>C)
10g.49612017T>GCA376722741CHAT,SLC18A3c.1277T>G (p.Ile426Ser)
c.-69+2818T>G (n.-69+2818T>G)
10g.49612017_49612020delinsTCTCCA1908795207CHAT,SLC18A3c.1277_1280delinsTCTC (p.Ile426=)
c.-69+2818_-69+2821delinsTCTC (n.-69+2818_-69+2821delinsTCTC)
10g.49612018C>ACA469792070CHAT,SLC18A3c.1278C>A (p.Ile426=)
c.-69+2819C>A (n.-69+2819C>A)
10g.49612018C=CA1908795211CHAT,SLC18A3c.1278C= (p.Ile426=)
c.-69+2819C= (n.-69+2819C=)
10g.49612018C>GCA376722744CHAT,SLC18A3c.1278C>G (p.Ile426Met)
c.-69+2819C>G (n.-69+2819C>G)
 dbSNP
10g.49612018C>TCA469792063CHAT,SLC18A3c.1278C>T (p.Ile426=)
c.-69+2819C>T (n.-69+2819C>T)
10g.49612020_49612022delCA5496935CHAT,SLC18A3c.1280_1282del (p.Ser427del)
c.-69+2821_-69+2823del (n.-69+2821_-69+2823del)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.49612019T>ACA376722762CHAT,SLC18A3c.1279T>A (p.Ser427Thr)
c.-69+2820T>A (n.-69+2820T>A)
10g.49612019T>CCA376722765CHAT,SLC18A3c.1279T>C (p.Ser427Pro)
c.-69+2820T>C (n.-69+2820T>C)
10g.49612019T>GCA376722767CHAT,SLC18A3c.1279T>G (p.Ser427Ala)
c.-69+2820T>G (n.-69+2820T>G)
10g.49612020C>ACA376722770CHAT,SLC18A3c.1280C>A (p.Ser427Tyr)
c.-69+2821C>A (n.-69+2821C>A)
10g.49612020C>GCA376722772CHAT,SLC18A3c.1280C>G (p.Ser427Cys)
c.-69+2821C>G (n.-69+2821C>G)
 COSMIC
10g.49612020C>TCA376722775CHAT,SLC18A3c.1280C>T (p.Ser427Phe)
c.-69+2821C>T (n.-69+2821C>T)
10g.49612021C>ACA469792076CHAT,SLC18A3c.1281C>A (p.Ser427=)
c.-69+2822C>A (n.-69+2822C>A)
10g.49612021C>GCA469792078CHAT,SLC18A3c.1281C>G (p.Ser427=)
c.-69+2822C>G (n.-69+2822C>G)
10g.49612021C>TCA469792077CHAT,SLC18A3c.1281C>T (p.Ser427=)
c.-69+2822C>T (n.-69+2822C>T)
 dbSNP gnomAD v3 gnomAD v4

Number of alleles fetched