Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
10 | g.49611916del | CA2609117365 | CHAT,SLC18A3 | c.1176del (p.Phe392LeufsTer3) c.-69+2717del (n.-69+2717del) | gnomAD v4 |
10 | g.49611915T>A | CA376722197 | CHAT,SLC18A3 | c.1175T>A (p.Phe392Tyr) c.-69+2716T>A (n.-69+2716T>A) | |
10 | g.49611915T>C | CA376722198 | CHAT,SLC18A3 | c.1175T>C (p.Phe392Ser) c.-69+2716T>C (n.-69+2716T>C) | |
10 | g.49611915T>G | CA376722199 | CHAT,SLC18A3 | c.1175T>G (p.Phe392Cys) c.-69+2716T>G (n.-69+2716T>G) | |
10 | g.49611916T>A | CA376722200 | CHAT,SLC18A3 | c.1176T>A (p.Phe392Leu) c.-69+2717T>A (n.-69+2717T>A) | |
10 | g.49611916T>C | CA469791673 | CHAT,SLC18A3 | c.1176T>C (p.Phe392=) c.-69+2717T>C (n.-69+2717T>C) | dbSNP |
10 | g.49611916T>G | CA376722201 | CHAT,SLC18A3 | c.1176T>G (p.Phe392Leu) c.-69+2717T>G (n.-69+2717T>G) | gnomAD v4 |
10 | g.49611916T= | CA1908795010 | CHAT,SLC18A3 | c.1176T= (p.Phe392=) c.-69+2717T= (n.-69+2717T=) | |
10 | g.49611917G>A | CA376722204 | CHAT,SLC18A3 | c.1177G>A (p.Gly393Ser) c.-69+2718G>A (n.-69+2718G>A) | |
10 | g.49611917G>C | CA376722203 | CHAT,SLC18A3 | c.1177G>C (p.Gly393Arg) c.-69+2718G>C (n.-69+2718G>C) | |
10 | g.49611917G= | CA1908795014 | CHAT,SLC18A3 | c.1177G= (p.Gly393=) c.-69+2718G= (n.-69+2718G=) | |
10 | g.49611917G>T | CA376722202 | CHAT,SLC18A3 | c.1177G>T (p.Gly393Cys) c.-69+2718G>T (n.-69+2718G>T) | dbSNP |
10 | g.49611918G>A | CA376722205 | CHAT,SLC18A3 | c.1178G>A (p.Gly393Asp) c.-69+2719G>A (n.-69+2719G>A) | |
10 | g.49611918G>C | CA376722206 | CHAT,SLC18A3 | c.1178G>C (p.Gly393Ala) c.-69+2719G>C (n.-69+2719G>C) | |
10 | g.49611918G>T | CA376722207 | CHAT,SLC18A3 | c.1178G>T (p.Gly393Val) c.-69+2719G>T (n.-69+2719G>T) | gnomAD v4 |
10 | g.49611919C>A | CA469791699 | CHAT,SLC18A3 | c.1179C>A (p.Gly393=) c.-69+2720C>A (n.-69+2720C>A) | |
10 | g.49611919C>G | CA469791693 | CHAT,SLC18A3 | c.1179C>G (p.Gly393=) c.-69+2720C>G (n.-69+2720C>G) | |
10 | g.49611919C>T | CA469791698 | CHAT,SLC18A3 | c.1179C>T (p.Gly393=) c.-69+2720C>T (n.-69+2720C>T) | |
10 | g.49611920A>C | CA376722208 | CHAT,SLC18A3 | c.1180A>C (p.Ile394Leu) c.-69+2721A>C (n.-69+2721A>C) | |
10 | g.49611920A>G | CA376722209 | CHAT,SLC18A3 | c.1180A>G (p.Ile394Val) c.-69+2721A>G (n.-69+2721A>G) | |
10 | g.49611920A>T | CA376722210 | CHAT,SLC18A3 | c.1180A>T (p.Ile394Leu) c.-69+2721A>T (n.-69+2721A>T) | |
10 | g.49611921T>A | CA376722211 | CHAT,SLC18A3 | c.1181T>A (p.Ile394Lys) c.-69+2722T>A (n.-69+2722T>A) | |
10 | g.49611921T>C | CA5496916 | CHAT,SLC18A3 | c.1181T>C (p.Ile394Thr) c.-69+2722T>C (n.-69+2722T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.49611921T>G | CA376722212 | CHAT,SLC18A3 | c.1181T>G (p.Ile394Arg) c.-69+2722T>G (n.-69+2722T>G) | |
10 | g.49611921T= | CA1908795017 | CHAT,SLC18A3 | c.1181T= (p.Ile394=) c.-69+2722T= (n.-69+2722T=) | |
10 | g.49611922A>C | CA469791706 | CHAT,SLC18A3 | c.1182A>C (p.Ile394=) c.-69+2723A>C (n.-69+2723A>C) | |
10 | g.49611922A>G | CA376722213 | CHAT,SLC18A3 | c.1182A>G (p.Ile394Met) c.-69+2723A>G (n.-69+2723A>G) | |
10 | g.49611922A>T | CA469791707 | CHAT,SLC18A3 | c.1182A>T (p.Ile394=) c.-69+2723A>T (n.-69+2723A>T) | |
10 | g.49611923G>A | CA376722214 | CHAT,SLC18A3 | c.1183G>A (p.Ala395Thr) c.-69+2724G>A (n.-69+2724G>A) | gnomAD v4 |
10 | g.49611923G>C | CA376722215 | CHAT,SLC18A3 | c.1183G>C (p.Ala395Pro) c.-69+2724G>C (n.-69+2724G>C) | |
10 | g.49611923G>T | CA376722216 | CHAT,SLC18A3 | c.1183G>T (p.Ala395Ser) c.-69+2724G>T (n.-69+2724G>T) | gnomAD v4 |
10 | g.49611924C>A | CA376722217 | CHAT,SLC18A3 | c.1184C>A (p.Ala395Asp) c.-69+2725C>A (n.-69+2725C>A) | |
10 | g.49611924C= | CA1908795023 | CHAT,SLC18A3 | c.1184C= (p.Ala395=) c.-69+2725C= (n.-69+2725C=) | |
10 | g.49611924C>G | CA376722218 | CHAT,SLC18A3 | c.1184C>G (p.Ala395Gly) c.-69+2725C>G (n.-69+2725C>G) | |
10 | g.49611924C>T | CA5496917 | CHAT,SLC18A3 | c.1184C>T (p.Ala395Val) c.-69+2725C>T (n.-69+2725C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.49611925C>A | CA469791716 | CHAT,SLC18A3 | c.1185C>A (p.Ala395=) c.-69+2726C>A (n.-69+2726C>A) | ClinVar dbSNP |
10 | g.49611925C= | CA1908795031 | CHAT,SLC18A3 | c.1185C= (p.Ala395=) c.-69+2726C= (n.-69+2726C=) | |
10 | g.49611925C>G | CA469791717 | CHAT,SLC18A3 | c.1185C>G (p.Ala395=) c.-69+2726C>G (n.-69+2726C>G) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.49611925C>T | CA469791718 | CHAT,SLC18A3 | c.1185C>T (p.Ala395=) c.-69+2726C>T (n.-69+2726C>T) | ClinVar dbSNP gnomAD v4 |
10 | g.49611926C>A | CA376722220 | CHAT,SLC18A3 | c.1186C>A (p.Leu396Ile) c.-69+2727C>A (n.-69+2727C>A) | |
10 | g.49611926C>G | CA376722219 | CHAT,SLC18A3 | c.1186C>G (p.Leu396Val) c.-69+2727C>G (n.-69+2727C>G) | |
10 | g.49611926C>T | CA469791719 | CHAT,SLC18A3 | c.1186C>T (p.Leu396=) c.-69+2727C>T (n.-69+2727C>T) | |
10 | g.49611927T>A | CA376722221 | CHAT,SLC18A3 | c.1187T>A (p.Leu396Gln) c.-69+2728T>A (n.-69+2728T>A) | |
10 | g.49611927T>C | CA376722222 | CHAT,SLC18A3 | c.1187T>C (p.Leu396Pro) c.-69+2728T>C (n.-69+2728T>C) | gnomAD v4 |
10 | g.49611927T>G | CA376722223 | CHAT,SLC18A3 | c.1187T>G (p.Leu396Arg) c.-69+2728T>G (n.-69+2728T>G) | |
10 | g.49611928A>C | CA469791728 | CHAT,SLC18A3 | c.1188A>C (p.Leu396=) c.-69+2729A>C (n.-69+2729A>C) | |
10 | g.49611928A>G | CA469791726 | CHAT,SLC18A3 | c.1188A>G (p.Leu396=) c.-69+2729A>G (n.-69+2729A>G) | |
10 | g.49611928A>T | CA469791729 | CHAT,SLC18A3 | c.1188A>T (p.Leu396=) c.-69+2729A>T (n.-69+2729A>T) | |
10 | g.49611929G>A | CA376722224 | CHAT,SLC18A3 | c.1189G>A (p.Val397Ile) c.-69+2730G>A (n.-69+2730G>A) | gnomAD v4 |
10 | g.49611929G>C | CA376722225 | CHAT,SLC18A3 | c.1189G>C (p.Val397Leu) c.-69+2730G>C (n.-69+2730G>C) | |
10 | g.49611929G>T | CA376722226 | CHAT,SLC18A3 | c.1189G>T (p.Val397Phe) c.-69+2730G>T (n.-69+2730G>T) | |
10 | g.49611930T>A | CA376722227 | CHAT,SLC18A3 | c.1190T>A (p.Val397Asp) c.-69+2731T>A (n.-69+2731T>A) | |
10 | g.49611930T>C | CA376722229 | CHAT,SLC18A3 | c.1190T>C (p.Val397Ala) c.-69+2731T>C (n.-69+2731T>C) | dbSNP |
10 | g.49611930T>G | CA376722228 | CHAT,SLC18A3 | c.1190T>G (p.Val397Gly) c.-69+2731T>G (n.-69+2731T>G) | |
10 | g.49611931C>A | CA469791742 | CHAT,SLC18A3 | c.1191C>A (p.Val397=) c.-69+2732C>A (n.-69+2732C>A) | gnomAD v4 |
10 | g.49611931C= | CA1908795033 | CHAT,SLC18A3 | c.1191C= (p.Val397=) c.-69+2732C= (n.-69+2732C=) | |
10 | g.49611931C>G | CA469791740 | CHAT,SLC18A3 | c.1191C>G (p.Val397=) c.-69+2732C>G (n.-69+2732C>G) | dbSNP gnomAD v4 |
10 | g.49611931C>T | CA469791734 | CHAT,SLC18A3 | c.1191C>T (p.Val397=) c.-69+2732C>T (n.-69+2732C>T) | |
10 | g.49611932G>A | CA376722230 | CHAT,SLC18A3 | c.1192G>A (p.Asp398Asn) c.-69+2733G>A (n.-69+2733G>A) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
10 | g.49611932G>C | CA16042222 | CHAT,SLC18A3 | c.1192G>C (p.Asp398His) c.-69+2733G>C (n.-69+2733G>C) | ClinVar dbSNP |
10 | g.49611932G= | CA1908795039 | CHAT,SLC18A3 | c.1192G= (p.Asp398=) c.-69+2733G= (n.-69+2733G=) | |
10 | g.49611932G>T | CA376722231 | CHAT,SLC18A3 | c.1192G>T (p.Asp398Tyr) c.-69+2733G>T (n.-69+2733G>T) | COSMIC |
10 | g.49611933A= | CA1908795044 | CHAT,SLC18A3 | c.1193A= (p.Asp398=) c.-69+2734A= (n.-69+2734A=) | |
10 | g.49611933A>C | CA376722232 | CHAT,SLC18A3 | c.1193A>C (p.Asp398Ala) c.-69+2734A>C (n.-69+2734A>C) | |
10 | g.49611933A>G | CA5496918 | CHAT,SLC18A3 | c.1193A>G (p.Asp398Gly) c.-69+2734A>G (n.-69+2734A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.49611933A>T | CA376722233 | CHAT,SLC18A3 | c.1193A>T (p.Asp398Val) c.-69+2734A>T (n.-69+2734A>T) | |
10 | g.49611934C>A | CA376722234 | CHAT,SLC18A3 | c.1194C>A (p.Asp398Glu) c.-69+2735C>A (n.-69+2735C>A) | dbSNP |
10 | g.49611934C= | CA1908795051 | CHAT,SLC18A3 | c.1194C= (p.Asp398=) c.-69+2735C= (n.-69+2735C=) | |
10 | g.49611934C>G | CA5496919 | CHAT,SLC18A3 | c.1194C>G (p.Asp398Glu) c.-69+2735C>G (n.-69+2735C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.49611934C>T | CA469791749 | CHAT,SLC18A3 | c.1194C>T (p.Asp398=) c.-69+2735C>T (n.-69+2735C>T) | |
10 | g.49611935A>C | CA376722235 | CHAT,SLC18A3 | c.1195A>C (p.Thr399Pro) c.-69+2736A>C (n.-69+2736A>C) | |
10 | g.49611935A>G | CA376722236 | CHAT,SLC18A3 | c.1195A>G (p.Thr399Ala) c.-69+2736A>G (n.-69+2736A>G) | |
10 | g.49611935A>T | CA376722237 | CHAT,SLC18A3 | c.1195A>T (p.Thr399Ser) c.-69+2736A>T (n.-69+2736A>T) | |
10 | g.49611936C>A | CA376722238 | CHAT,SLC18A3 | c.1196C>A (p.Thr399Lys) c.-69+2737C>A (n.-69+2737C>A) | |
10 | g.49611936C= | CA1908795055 | CHAT,SLC18A3 | c.1196C= (p.Thr399=) c.-69+2737C= (n.-69+2737C=) | |
10 | g.49611936C>G | CA5496920 | CHAT,SLC18A3 | c.1196C>G (p.Thr399Arg) c.-69+2737C>G (n.-69+2737C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.49611936C>T | CA376722239 | CHAT,SLC18A3 | c.1196C>T (p.Thr399Ile) c.-69+2737C>T (n.-69+2737C>T) | COSMIC |
10 | g.49611937A>C | CA469791755 | CHAT,SLC18A3 | c.1197A>C (p.Thr399=) c.-69+2738A>C (n.-69+2738A>C) | |
10 | g.49611937A>G | CA469791756 | CHAT,SLC18A3 | c.1197A>G (p.Thr399=) c.-69+2738A>G (n.-69+2738A>G) | |
10 | g.49611937A>T | CA469791757 | CHAT,SLC18A3 | c.1197A>T (p.Thr399=) c.-69+2738A>T (n.-69+2738A>T) | gnomAD v4 |
10 | g.49611938G>A | CA376722240 | CHAT,SLC18A3 | c.1198G>A (p.Ala400Thr) c.-69+2739G>A (n.-69+2739G>A) | |
10 | g.49611938G>C | CA376722242 | CHAT,SLC18A3 | c.1198G>C (p.Ala400Pro) c.-69+2739G>C (n.-69+2739G>C) | |
10 | g.49611938G>T | CA376722241 | CHAT,SLC18A3 | c.1198G>T (p.Ala400Ser) c.-69+2739G>T (n.-69+2739G>T) | |
10 | g.49611939C>A | CA376722243 | CHAT,SLC18A3 | c.1199C>A (p.Ala400Glu) c.-69+2740C>A (n.-69+2740C>A) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.49611939C= | CA1908795060 | CHAT,SLC18A3 | c.1199C= (p.Ala400=) c.-69+2740C= (n.-69+2740C=) | |
10 | g.49611939C>G | CA376722244 | CHAT,SLC18A3 | c.1199C>G (p.Ala400Gly) c.-69+2740C>G (n.-69+2740C>G) | |
10 | g.49611939C>T | CA376722245 | CHAT,SLC18A3 | c.1199C>T (p.Ala400Val) c.-69+2740C>T (n.-69+2740C>T) | |
10 | g.49611940A= | CA1908795061 | CHAT,SLC18A3 | c.1200A= (p.Ala400=) c.-69+2741A= (n.-69+2741A=) | |
10 | g.49611940A>C | CA469791763 | CHAT,SLC18A3 | c.1200A>C (p.Ala400=) c.-69+2741A>C (n.-69+2741A>C) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.49611940A>G | CA469791766 | CHAT,SLC18A3 | c.1200A>G (p.Ala400=) c.-69+2741A>G (n.-69+2741A>G) | gnomAD v4 |
10 | g.49611940A>T | CA469791765 | CHAT,SLC18A3 | c.1200A>T (p.Ala400=) c.-69+2741A>T (n.-69+2741A>T) | ClinVar dbSNP |
10 | g.49611941C>A | CA376722246 | CHAT,SLC18A3 | c.1201C>A (p.Leu401Met) c.-69+2742C>A (n.-69+2742C>A) | |
10 | g.49611941C>G | CA376722247 | CHAT,SLC18A3 | c.1201C>G (p.Leu401Val) c.-69+2742C>G (n.-69+2742C>G) | gnomAD v4 |
10 | g.49611941C>T | CA469791768 | CHAT,SLC18A3 | c.1201C>T (p.Leu401=) c.-69+2742C>T (n.-69+2742C>T) | |
10 | g.49611942T>A | CA376722248 | CHAT,SLC18A3 | c.1202T>A (p.Leu401Gln) c.-69+2743T>A (n.-69+2743T>A) | |
10 | g.49611942T>C | CA376722249 | CHAT,SLC18A3 | c.1202T>C (p.Leu401Pro) c.-69+2743T>C (n.-69+2743T>C) | ClinVar |
10 | g.49611942T>G | CA376722250 | CHAT,SLC18A3 | c.1202T>G (p.Leu401Arg) c.-69+2743T>G (n.-69+2743T>G) | |
10 | g.49611943G>A | CA469791775 | CHAT,SLC18A3 | c.1203G>A (p.Leu401=) c.-69+2744G>A (n.-69+2744G>A) | dbSNP |
10 | g.49611943G>C | CA469791774 | CHAT,SLC18A3 | c.1203G>C (p.Leu401=) c.-69+2744G>C (n.-69+2744G>C) | |
10 | g.49611943G= | CA1908795064 | CHAT,SLC18A3 | c.1203G= (p.Leu401=) c.-69+2744G= (n.-69+2744G=) | |
10 | g.49611943G>T | CA469791773 | CHAT,SLC18A3 | c.1203G>T (p.Leu401=) c.-69+2744G>T (n.-69+2744G>T) | gnomAD v4 |
10 | g.49611944C>A | CA376722251 | CHAT,SLC18A3 | c.1204C>A (p.Leu402Met) c.-69+2745C>A (n.-69+2745C>A) | |
10 | g.49611944C>G | CA376722252 | CHAT,SLC18A3 | c.1204C>G (p.Leu402Val) c.-69+2745C>G (n.-69+2745C>G) | |
10 | g.49611944C>T | CA469791777 | CHAT,SLC18A3 | c.1204C>T (p.Leu402=) c.-69+2745C>T (n.-69+2745C>T) | gnomAD v4 |
10 | g.49611945T>A | CA376722255 | CHAT,SLC18A3 | c.1205T>A (p.Leu402Gln) c.-69+2746T>A (n.-69+2746T>A) | |
10 | g.49611945T>C | CA376722254 | CHAT,SLC18A3 | c.1205T>C (p.Leu402Pro) c.-69+2746T>C (n.-69+2746T>C) | |
10 | g.49611945T>G | CA376722253 | CHAT,SLC18A3 | c.1205T>G (p.Leu402Arg) c.-69+2746T>G (n.-69+2746T>G) | |
10 | g.49611946G>A | CA469791782 | CHAT,SLC18A3 | c.1206G>A (p.Leu402=) c.-69+2747G>A (n.-69+2747G>A) | gnomAD v4 |
10 | g.49611946G>C | CA469791784 | CHAT,SLC18A3 | c.1206G>C (p.Leu402=) c.-69+2747G>C (n.-69+2747G>C) | |
10 | g.49611946G= | CA1908795069 | CHAT,SLC18A3 | c.1206G= (p.Leu402=) c.-69+2747G= (n.-69+2747G=) | |
10 | g.49611946G>T | CA469791785 | CHAT,SLC18A3 | c.1206G>T (p.Leu402=) c.-69+2747G>T (n.-69+2747G>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
10 | g.49611947C>A | CA5496921 | CHAT,SLC18A3 | c.1207C>A (p.Pro403Thr) c.-69+2748C>A (n.-69+2748C>A) | dbSNP ExAC gnomAD v2 |
10 | g.49611947C= | CA1908795072 | CHAT,SLC18A3 | c.1207C= (p.Pro403=) c.-69+2748C= (n.-69+2748C=) | |
10 | g.49611947C>G | CA376722256 | CHAT,SLC18A3 | c.1207C>G (p.Pro403Ala) c.-69+2748C>G (n.-69+2748C>G) | |
10 | g.49611947C>T | CA376722257 | CHAT,SLC18A3 | c.1207C>T (p.Pro403Ser) c.-69+2748C>T (n.-69+2748C>T) | gnomAD v4 |
10 | g.49611947_49611950delinsCCCA | CA1908795073 | CHAT,SLC18A3 | c.1207_1210delinsCCCA (p.Pro403=) c.-69+2748_-69+2751delinsCCCA (n.-69+2748_-69+2751delinsCCCA) | |
10 | g.49611948C>A | CA376722258 | CHAT,SLC18A3 | c.1208C>A (p.Pro403His) c.-69+2749C>A (n.-69+2749C>A) | |
10 | g.49611948C>G | CA376722259 | CHAT,SLC18A3 | c.1208C>G (p.Pro403Arg) c.-69+2749C>G (n.-69+2749C>G) | |
10 | g.49611948C>T | CA376722260 | CHAT,SLC18A3 | c.1208C>T (p.Pro403Leu) c.-69+2749C>T (n.-69+2749C>T) | |
10 | g.49611949_49611951del | CA1908795077 | CHAT,SLC18A3 | c.1209_1211del (p.Thr404del) c.-69+2750_-69+2752del (n.-69+2750_-69+2752del) | dbSNP |
10 | g.49611949C>A | CA469791790 | CHAT,SLC18A3 | c.1209C>A (p.Pro403=) c.-69+2750C>A (n.-69+2750C>A) | |
10 | g.49611949C>G | CA469791792 | CHAT,SLC18A3 | c.1209C>G (p.Pro403=) c.-69+2750C>G (n.-69+2750C>G) | |
10 | g.49611949C>T | CA469791791 | CHAT,SLC18A3 | c.1209C>T (p.Pro403=) c.-69+2750C>T (n.-69+2750C>T) | |
10 | g.49611950A= | CA1908795080 | CHAT,SLC18A3 | c.1210A= (p.Thr404=) c.-69+2751A= (n.-69+2751A=) | |
10 | g.49611950A>C | CA376722261 | CHAT,SLC18A3 | c.1210A>C (p.Thr404Pro) c.-69+2751A>C (n.-69+2751A>C) | |
10 | g.49611950A>G | CA376722262 | CHAT,SLC18A3 | c.1210A>G (p.Thr404Ala) c.-69+2751A>G (n.-69+2751A>G) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
10 | g.49611950A>T | CA376722263 | CHAT,SLC18A3 | c.1210A>T (p.Thr404Ser) c.-69+2751A>T (n.-69+2751A>T) | |
10 | g.49611950_49611951insTGTGT | CA1908795084 | CHAT,SLC18A3 | c.1210_1211insTGTGT (p.Thr404MetfsTer?) c.-69+2751_-69+2752insTGTGT (n.-69+2751_-69+2752insTGTGT) | dbSNP |
10 | g.49611951C>A | CA376722265 | CHAT,SLC18A3 | c.1211C>A (p.Thr404Lys) c.-69+2752C>A (n.-69+2752C>A) | gnomAD v4 |
10 | g.49611951C>G | CA376722278 | CHAT,SLC18A3 | c.1211C>G (p.Thr404Arg) c.-69+2752C>G (n.-69+2752C>G) | |
10 | g.49611951C>T | CA376722282 | CHAT,SLC18A3 | c.1211C>T (p.Thr404Met) c.-69+2752C>T (n.-69+2752C>T) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
10 | g.49611952G>A | CA469791797 | CHAT,SLC18A3 | c.1212G>A (p.Thr404=) c.-69+2753G>A (n.-69+2753G>A) | gnomAD v4 |
10 | g.49611952G>C | CA469791799 | CHAT,SLC18A3 | c.1212G>C (p.Thr404=) c.-69+2753G>C (n.-69+2753G>C) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.49611952G= | CA1908795087 | CHAT,SLC18A3 | c.1212G= (p.Thr404=) c.-69+2753G= (n.-69+2753G=) | |
10 | g.49611952G>T | CA469791800 | CHAT,SLC18A3 | c.1212G>T (p.Thr404=) c.-69+2753G>T (n.-69+2753G>T) | ClinVar dbSNP gnomAD v4 |
10 | g.49611953C>A | CA376722289 | CHAT,SLC18A3 | c.1213C>A (p.Leu405Ile) c.-69+2754C>A (n.-69+2754C>A) | gnomAD v4 |
10 | g.49611953C>G | CA376722291 | CHAT,SLC18A3 | c.1213C>G (p.Leu405Val) c.-69+2754C>G (n.-69+2754C>G) | |
10 | g.49611953C>T | CA376722286 | CHAT,SLC18A3 | c.1213C>T (p.Leu405Phe) c.-69+2754C>T (n.-69+2754C>T) | |
10 | g.49611954T>A | CA376722293 | CHAT,SLC18A3 | c.1214T>A (p.Leu405His) c.-69+2755T>A (n.-69+2755T>A) | |
10 | g.49611954T>C | CA376722296 | CHAT,SLC18A3 | c.1214T>C (p.Leu405Pro) c.-69+2755T>C (n.-69+2755T>C) | |
10 | g.49611954T>G | CA376722299 | CHAT,SLC18A3 | c.1214T>G (p.Leu405Arg) c.-69+2755T>G (n.-69+2755T>G) | |
10 | g.49611955C>A | CA469791808 | CHAT,SLC18A3 | c.1215C>A (p.Leu405=) c.-69+2756C>A (n.-69+2756C>A) | gnomAD v4 |
10 | g.49611955C= | CA1908795090 | CHAT,SLC18A3 | c.1215C= (p.Leu405=) c.-69+2756C= (n.-69+2756C=) | |
10 | g.49611955C>G | CA469791836 | CHAT,SLC18A3 | c.1215C>G (p.Leu405=) c.-69+2756C>G (n.-69+2756C>G) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.49611955C>T | CA5496922 | CHAT,SLC18A3 | c.1215C>T (p.Leu405=) c.-69+2756C>T (n.-69+2756C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.49611956G>A | CA376722308 | CHAT,SLC18A3 | c.1216G>A (p.Ala406Thr) c.-69+2757G>A (n.-69+2757G>A) | COSMIC |
10 | g.49611956G>C | CA376722311 | CHAT,SLC18A3 | c.1216G>C (p.Ala406Pro) c.-69+2757G>C (n.-69+2757G>C) | |
10 | g.49611956G= | CA1908795092 | CHAT,SLC18A3 | c.1216G= (p.Ala406=) c.-69+2757G= (n.-69+2757G=) | |
10 | g.49611956G>T | CA376722314 | CHAT,SLC18A3 | c.1216G>T (p.Ala406Ser) c.-69+2757G>T (n.-69+2757G>T) | dbSNP |
10 | g.49611957C>A | CA376722318 | CHAT,SLC18A3 | c.1217C>A (p.Ala406Asp) c.-69+2758C>A (n.-69+2758C>A) | |
10 | g.49611957C= | CA1908795097 | CHAT,SLC18A3 | c.1217C= (p.Ala406=) c.-69+2758C= (n.-69+2758C=) | |
10 | g.49611957C>G | CA376722321 | CHAT,SLC18A3 | c.1217C>G (p.Ala406Gly) c.-69+2758C>G (n.-69+2758C>G) | |
10 | g.49611957C>T | CA5496923 | CHAT,SLC18A3 | c.1217C>T (p.Ala406Val) c.-69+2758C>T (n.-69+2758C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.49611958C>A | CA469791845 | CHAT,SLC18A3 | c.1218C>A (p.Ala406=) c.-69+2759C>A (n.-69+2759C>A) | |
10 | g.49611958C>G | CA469791843 | CHAT,SLC18A3 | c.1218C>G (p.Ala406=) c.-69+2759C>G (n.-69+2759C>G) | |
10 | g.49611958C>T | CA469791844 | CHAT,SLC18A3 | c.1218C>T (p.Ala406=) c.-69+2759C>T (n.-69+2759C>T) | gnomAD v4 |
10 | g.49611959T>A | CA376722327 | CHAT,SLC18A3 | c.1219T>A (p.Phe407Ile) c.-69+2760T>A (n.-69+2760T>A) | |
10 | g.49611959T>C | CA376722330 | CHAT,SLC18A3 | c.1219T>C (p.Phe407Leu) c.-69+2760T>C (n.-69+2760T>C) | |
10 | g.49611959T>G | CA376722332 | CHAT,SLC18A3 | c.1219T>G (p.Phe407Val) c.-69+2760T>G (n.-69+2760T>G) | |
10 | g.49611960T>A | CA376722340 | CHAT,SLC18A3 | c.1220T>A (p.Phe407Tyr) c.-69+2761T>A (n.-69+2761T>A) | |
10 | g.49611960T>C | CA376722338 | CHAT,SLC18A3 | c.1220T>C (p.Phe407Ser) c.-69+2761T>C (n.-69+2761T>C) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.49611960T>G | CA376722336 | CHAT,SLC18A3 | c.1220T>G (p.Phe407Cys) c.-69+2761T>G (n.-69+2761T>G) | |
10 | g.49611960T= | CA1908795104 | CHAT,SLC18A3 | c.1220T= (p.Phe407=) c.-69+2761T= (n.-69+2761T=) | |
10 | g.49611961C>A | CA376722343 | CHAT,SLC18A3 | c.1221C>A (p.Phe407Leu) c.-69+2762C>A (n.-69+2762C>A) | |
10 | g.49611961C= | CA1908795110 | CHAT,SLC18A3 | c.1221C= (p.Phe407=) c.-69+2762C= (n.-69+2762C=) | |
10 | g.49611961C>G | CA376722346 | CHAT,SLC18A3 | c.1221C>G (p.Phe407Leu) c.-69+2762C>G (n.-69+2762C>G) | |
10 | g.49611961C>T | CA469791846 | CHAT,SLC18A3 | c.1221C>T (p.Phe407=) c.-69+2762C>T (n.-69+2762C>T) | dbSNP gnomAD v4 COSMIC |
10 | g.49611962C>A | CA376722348 | CHAT,SLC18A3 | c.1222C>A (p.Leu408Met) c.-69+2763C>A (n.-69+2763C>A) | |
10 | g.49611962C>G | CA376722352 | CHAT,SLC18A3 | c.1222C>G (p.Leu408Val) c.-69+2763C>G (n.-69+2763C>G) | |
10 | g.49611962C>T | CA469791850 | CHAT,SLC18A3 | c.1222C>T (p.Leu408=) c.-69+2763C>T (n.-69+2763C>T) | |
10 | g.49611963T>A | CA376722357 | CHAT,SLC18A3 | c.1223T>A (p.Leu408Gln) c.-69+2764T>A (n.-69+2764T>A) | |
10 | g.49611963T>C | CA376722359 | CHAT,SLC18A3 | c.1223T>C (p.Leu408Pro) c.-69+2764T>C (n.-69+2764T>C) | |
10 | g.49611963T>G | CA376722362 | CHAT,SLC18A3 | c.1223T>G (p.Leu408Arg) c.-69+2764T>G (n.-69+2764T>G) | |
10 | g.49611964G>A | CA469791854 | CHAT,SLC18A3 | c.1224G>A (p.Leu408=) c.-69+2765G>A (n.-69+2765G>A) | |
10 | g.49611964G>C | CA469791857 | CHAT,SLC18A3 | c.1224G>C (p.Leu408=) c.-69+2765G>C (n.-69+2765G>C) | |
10 | g.49611964G>T | CA469791856 | CHAT,SLC18A3 | c.1224G>T (p.Leu408=) c.-69+2765G>T (n.-69+2765G>T) | |
10 | g.49611965G>A | CA376722366 | CHAT,SLC18A3 | c.1225G>A (p.Val409Met) c.-69+2766G>A (n.-69+2766G>A) | |
10 | g.49611965G>C | CA376722368 | CHAT,SLC18A3 | c.1225G>C (p.Val409Leu) c.-69+2766G>C (n.-69+2766G>C) | |
10 | g.49611965G>T | CA376722371 | CHAT,SLC18A3 | c.1225G>T (p.Val409Leu) c.-69+2766G>T (n.-69+2766G>T) | |
10 | g.49611966T>A | CA376722376 | CHAT,SLC18A3 | c.1226T>A (p.Val409Glu) c.-69+2767T>A (n.-69+2767T>A) | |
10 | g.49611966T>C | CA376722379 | CHAT,SLC18A3 | c.1226T>C (p.Val409Ala) c.-69+2767T>C (n.-69+2767T>C) | |
10 | g.49611966T>G | CA376722381 | CHAT,SLC18A3 | c.1226T>G (p.Val409Gly) c.-69+2767T>G (n.-69+2767T>G) | |
10 | g.49611967G>A | CA469791867 | CHAT,SLC18A3 | c.1227G>A (p.Val409=) c.-69+2768G>A (n.-69+2768G>A) | |
10 | g.49611967G>C | CA469791865 | CHAT,SLC18A3 | c.1227G>C (p.Val409=) c.-69+2768G>C (n.-69+2768G>C) | |
10 | g.49611967G>T | CA469791864 | CHAT,SLC18A3 | c.1227G>T (p.Val409=) c.-69+2768G>T (n.-69+2768G>T) | |
10 | g.49611968G>A | CA206621449 | CHAT,SLC18A3 | c.1228G>A (p.Asp410Asn) c.-69+2769G>A (n.-69+2769G>A) | dbSNP |
10 | g.49611968G>C | CA376722393 | CHAT,SLC18A3 | c.1228G>C (p.Asp410His) c.-69+2769G>C (n.-69+2769G>C) | |
10 | g.49611968G= | CA1908795114 | CHAT,SLC18A3 | c.1228G= (p.Asp410=) c.-69+2769G= (n.-69+2769G=) | |
10 | g.49611968G>T | CA376722390 | CHAT,SLC18A3 | c.1228G>T (p.Asp410Tyr) c.-69+2769G>T (n.-69+2769G>T) | |
10 | g.49611969A>C | CA376722396 | CHAT,SLC18A3 | c.1229A>C (p.Asp410Ala) c.-69+2770A>C (n.-69+2770A>C) | |
10 | g.49611969A>G | CA376722397 | CHAT,SLC18A3 | c.1229A>G (p.Asp410Gly) c.-69+2770A>G (n.-69+2770A>G) | |
10 | g.49611969A>T | CA376722400 | CHAT,SLC18A3 | c.1229A>T (p.Asp410Val) c.-69+2770A>T (n.-69+2770A>T) | |
10 | g.49611970C>A | CA376722403 | CHAT,SLC18A3 | c.1230C>A (p.Asp410Glu) c.-69+2771C>A (n.-69+2771C>A) | gnomAD v4 |
10 | g.49611970C= | CA1908795116 | CHAT,SLC18A3 | c.1230C= (p.Asp410=) c.-69+2771C= (n.-69+2771C=) | |
10 | g.49611970C>G | CA376722406 | CHAT,SLC18A3 | c.1230C>G (p.Asp410Glu) c.-69+2771C>G (n.-69+2771C>G) | |
10 | g.49611970C>T | CA469791870 | CHAT,SLC18A3 | c.1230C>T (p.Asp410=) c.-69+2771C>T (n.-69+2771C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
10 | g.49611971G>A | CA376722410 | CHAT,SLC18A3 | c.1231G>A (p.Val411Met) c.-69+2772G>A (n.-69+2772G>A) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
10 | g.49611971G>C | CA376722413 | CHAT,SLC18A3 | c.1231G>C (p.Val411Leu) c.-69+2772G>C (n.-69+2772G>C) | |
10 | g.49611971G= | CA1908795118 | CHAT,SLC18A3 | c.1231G= (p.Val411=) c.-69+2772G= (n.-69+2772G=) | |
10 | g.49611971G>T | CA376722415 | CHAT,SLC18A3 | c.1231G>T (p.Val411Leu) c.-69+2772G>T (n.-69+2772G>T) | gnomAD v4 |
10 | g.49611972T>A | CA376722420 | CHAT,SLC18A3 | c.1232T>A (p.Val411Glu) c.-69+2773T>A (n.-69+2773T>A) | |
10 | g.49611972T>C | CA206621453 | CHAT,SLC18A3 | c.1232T>C (p.Val411Ala) c.-69+2773T>C (n.-69+2773T>C) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.49611972T>G | CA376722424 | CHAT,SLC18A3 | c.1232T>G (p.Val411Gly) c.-69+2773T>G (n.-69+2773T>G) | |
10 | g.49611972T= | CA1908795122 | CHAT,SLC18A3 | c.1232T= (p.Val411=) c.-69+2773T= (n.-69+2773T=) | |
10 | g.49611973G>A | CA469791882 | CHAT,SLC18A3 | c.1233G>A (p.Val411=) c.-69+2774G>A (n.-69+2774G>A) | |
10 | g.49611973G>C | CA469791879 | CHAT,SLC18A3 | c.1233G>C (p.Val411=) c.-69+2774G>C (n.-69+2774G>C) | |
10 | g.49611973G>T | CA469791881 | CHAT,SLC18A3 | c.1233G>T (p.Val411=) c.-69+2774G>T (n.-69+2774G>T) | |
10 | g.49611974C>A | CA5496924 | CHAT,SLC18A3 | c.1234C>A (p.Arg412Ser) c.-69+2775C>A (n.-69+2775C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.49611974C= | CA1908795125 | CHAT,SLC18A3 | c.1234C= (p.Arg412=) c.-69+2775C= (n.-69+2775C=) | |
10 | g.49611974C>G | CA376722428 | CHAT,SLC18A3 | c.1234C>G (p.Arg412Gly) c.-69+2775C>G (n.-69+2775C>G) | |
10 | g.49611974C>T | CA376722430 | CHAT,SLC18A3 | c.1234C>T (p.Arg412Cys) c.-69+2775C>T (n.-69+2775C>T) | dbSNP gnomAD v2 |
10 | g.49611975G>A | CA5496925 | CHAT,SLC18A3 | c.1235G>A (p.Arg412His) c.-69+2776G>A (n.-69+2776G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
10 | g.49611975G>C | CA376722441 | CHAT,SLC18A3 | c.1235G>C (p.Arg412Pro) c.-69+2776G>C (n.-69+2776G>C) | |
10 | g.49611975G= | CA1908795130 | CHAT,SLC18A3 | c.1235G= (p.Arg412=) c.-69+2776G= (n.-69+2776G=) | |
10 | g.49611975G>T | CA376722438 | CHAT,SLC18A3 | c.1235G>T (p.Arg412Leu) c.-69+2776G>T (n.-69+2776G>T) | |
10 | g.49611976C>A | CA469791888 | CHAT,SLC18A3 | c.1236C>A (p.Arg412=) c.-69+2777C>A (n.-69+2777C>A) | |
10 | g.49611976C>G | CA469791891 | CHAT,SLC18A3 | c.1236C>G (p.Arg412=) c.-69+2777C>G (n.-69+2777C>G) | |
10 | g.49611976C>T | CA469791890 | CHAT,SLC18A3 | c.1236C>T (p.Arg412=) c.-69+2777C>T (n.-69+2777C>T) | COSMIC |
10 | g.49611977C>A | CA376722446 | CHAT,SLC18A3 | c.1237C>A (p.His413Asn) c.-69+2778C>A (n.-69+2778C>A) | gnomAD v4 |
10 | g.49611977C>G | CA376722448 | CHAT,SLC18A3 | c.1237C>G (p.His413Asp) c.-69+2778C>G (n.-69+2778C>G) | |
10 | g.49611977C>T | CA376722453 | CHAT,SLC18A3 | c.1237C>T (p.His413Tyr) c.-69+2778C>T (n.-69+2778C>T) | |
10 | g.49611978A>C | CA376722458 | CHAT,SLC18A3 | c.1238A>C (p.His413Pro) c.-69+2779A>C (n.-69+2779A>C) | |
10 | g.49611978A>G | CA376722460 | CHAT,SLC18A3 | c.1238A>G (p.His413Arg) c.-69+2779A>G (n.-69+2779A>G) | |
10 | g.49611978A>T | CA376722463 | CHAT,SLC18A3 | c.1238A>T (p.His413Leu) c.-69+2779A>T (n.-69+2779A>T) | |
10 | g.49611979T>A | CA376722467 | CHAT,SLC18A3 | c.1239T>A (p.His413Gln) c.-69+2780T>A (n.-69+2780T>A) | |
10 | g.49611979T>C | CA469791898 | CHAT,SLC18A3 | c.1239T>C (p.His413=) c.-69+2780T>C (n.-69+2780T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.49611979T>G | CA376722470 | CHAT,SLC18A3 | c.1239T>G (p.His413Gln) c.-69+2780T>G (n.-69+2780T>G) | |
10 | g.49611979T= | CA1908795133 | CHAT,SLC18A3 | c.1239T= (p.His413=) c.-69+2780T= (n.-69+2780T=) | |
10 | g.49611980G>A | CA376722474 | CHAT,SLC18A3 | c.1240G>A (p.Val414Ile) c.-69+2781G>A (n.-69+2781G>A) | ClinVar dbSNP |
10 | g.49611980G>C | CA376722477 | CHAT,SLC18A3 | c.1240G>C (p.Val414Leu) c.-69+2781G>C (n.-69+2781G>C) | |
10 | g.49611980G>T | CA376722479 | CHAT,SLC18A3 | c.1240G>T (p.Val414Phe) c.-69+2781G>T (n.-69+2781G>T) | |
10 | g.49611981T>A | CA376722483 | CHAT,SLC18A3 | c.1241T>A (p.Val414Asp) c.-69+2782T>A (n.-69+2782T>A) | |
10 | g.49611981T>C | CA376722485 | CHAT,SLC18A3 | c.1241T>C (p.Val414Ala) c.-69+2782T>C (n.-69+2782T>C) | |
10 | g.49611981T>G | CA376722488 | CHAT,SLC18A3 | c.1241T>G (p.Val414Gly) c.-69+2782T>G (n.-69+2782T>G) | |
10 | g.49611982C>A | CA469791903 | CHAT,SLC18A3 | c.1242C>A (p.Val414=) c.-69+2783C>A (n.-69+2783C>A) | |
10 | g.49611982C>G | CA469791904 | CHAT,SLC18A3 | c.1242C>G (p.Val414=) c.-69+2783C>G (n.-69+2783C>G) | |
10 | g.49611982C>T | CA469791902 | CHAT,SLC18A3 | c.1242C>T (p.Val414=) c.-69+2783C>T (n.-69+2783C>T) | gnomAD v4 COSMIC |
10 | g.49611983T>A | CA376722494 | CHAT,SLC18A3 | c.1243T>A (p.Ser415Thr) c.-69+2784T>A (n.-69+2784T>A) | |
10 | g.49611983T>C | CA376722496 | CHAT,SLC18A3 | c.1243T>C (p.Ser415Pro) c.-69+2784T>C (n.-69+2784T>C) | |
10 | g.49611983T>G | CA376722491 | CHAT,SLC18A3 | c.1243T>G (p.Ser415Ala) c.-69+2784T>G (n.-69+2784T>G) | |
10 | g.49611984C>A | CA376722499 | CHAT,SLC18A3 | c.1244C>A (p.Ser415Ter) c.-69+2785C>A (n.-69+2785C>A) | |
10 | g.49611984C>G | CA376722504 | CHAT,SLC18A3 | c.1244C>G (p.Ser415Ter) c.-69+2785C>G (n.-69+2785C>G) | |
10 | g.49611984C>T | CA376722505 | CHAT,SLC18A3 | c.1244C>T (p.Ser415Leu) c.-69+2785C>T (n.-69+2785C>T) | |
10 | g.49611984_49611985del | CA2609117487 | CHAT,SLC18A3 | c.1244_1245del (p.Ser415CysfsTer?) c.-69+2785_-69+2786del (n.-69+2785_-69+2786del) | gnomAD v4 |
10 | g.49611985del | CA2574545164 | CHAT,SLC18A3 | c.1245del (p.Val416SerfsTer22) c.-69+2786del (n.-69+2786del) | gnomAD v4 |
10 | g.49611985A>C | CA469791912 | CHAT,SLC18A3 | c.1245A>C (p.Ser415=) c.-69+2786A>C (n.-69+2786A>C) | |
10 | g.49611985A>G | CA469791913 | CHAT,SLC18A3 | c.1245A>G (p.Ser415=) c.-69+2786A>G (n.-69+2786A>G) | |
10 | g.49611985A>T | CA469791910 | CHAT,SLC18A3 | c.1245A>T (p.Ser415=) c.-69+2786A>T (n.-69+2786A>T) | |
10 | g.49611986G>A | CA376722508 | CHAT,SLC18A3 | c.1246G>A (p.Val416Ile) c.-69+2787G>A (n.-69+2787G>A) | |
10 | g.49611986G>C | CA376722509 | CHAT,SLC18A3 | c.1246G>C (p.Val416Leu) c.-69+2787G>C (n.-69+2787G>C) | |
10 | g.49611986G>T | CA376722511 | CHAT,SLC18A3 | c.1246G>T (p.Val416Phe) c.-69+2787G>T (n.-69+2787G>T) | COSMIC |
10 | g.49611987T>A | CA376722515 | CHAT,SLC18A3 | c.1247T>A (p.Val416Asp) c.-69+2788T>A (n.-69+2788T>A) | |
10 | g.49611987T>C | CA376722517 | CHAT,SLC18A3 | c.1247T>C (p.Val416Ala) c.-69+2788T>C (n.-69+2788T>C) | |
10 | g.49611987T>G | CA376722520 | CHAT,SLC18A3 | c.1247T>G (p.Val416Gly) c.-69+2788T>G (n.-69+2788T>G) | |
10 | g.49611988C>A | CA469791931 | CHAT,SLC18A3 | c.1248C>A (p.Val416=) c.-69+2789C>A (n.-69+2789C>A) | dbSNP gnomAD v4 |
10 | g.49611988C= | CA1908795135 | CHAT,SLC18A3 | c.1248C= (p.Val416=) c.-69+2789C= (n.-69+2789C=) | |
10 | g.49611988C>G | CA5496926 | CHAT,SLC18A3 | c.1248C>G (p.Val416=) c.-69+2789C>G (n.-69+2789C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.49611988C>T | CA469791930 | CHAT,SLC18A3 | c.1248C>T (p.Val416=) c.-69+2789C>T (n.-69+2789C>T) | |
10 | g.49611989T>A | CA376722526 | CHAT,SLC18A3 | c.1249T>A (p.Tyr417Asn) c.-69+2790T>A (n.-69+2790T>A) | |
10 | g.49611989T>C | CA376722529 | CHAT,SLC18A3 | c.1249T>C (p.Tyr417His) c.-69+2790T>C (n.-69+2790T>C) | |
10 | g.49611989T>G | CA376722533 | CHAT,SLC18A3 | c.1249T>G (p.Tyr417Asp) c.-69+2790T>G (n.-69+2790T>G) | |
10 | g.49611990A>C | CA376722541 | CHAT,SLC18A3 | c.1250A>C (p.Tyr417Ser) c.-69+2791A>C (n.-69+2791A>C) | |
10 | g.49611990A>G | CA376722537 | CHAT,SLC18A3 | c.1250A>G (p.Tyr417Cys) c.-69+2791A>G (n.-69+2791A>G) | |
10 | g.49611990A>T | CA376722540 | CHAT,SLC18A3 | c.1250A>T (p.Tyr417Phe) c.-69+2791A>T (n.-69+2791A>T) | COSMIC |
10 | g.49611991T>A | CA376722546 | CHAT,SLC18A3 | c.1251T>A (p.Tyr417Ter) c.-69+2792T>A (n.-69+2792T>A) | |
10 | g.49611991T>C | CA5496927 | CHAT,SLC18A3 | c.1251T>C (p.Tyr417=) c.-69+2792T>C (n.-69+2792T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.49611991T>G | CA376722552 | CHAT,SLC18A3 | c.1251T>G (p.Tyr417Ter) c.-69+2792T>G (n.-69+2792T>G) | |
10 | g.49611991T= | CA1908795143 | CHAT,SLC18A3 | c.1251T= (p.Tyr417=) c.-69+2792T= (n.-69+2792T=) | |
10 | g.49611992G>A | CA376722556 | CHAT,SLC18A3 | c.1252G>A (p.Gly418Ser) c.-69+2793G>A (n.-69+2793G>A) | |
10 | g.49611992G>C | CA376722558 | CHAT,SLC18A3 | c.1252G>C (p.Gly418Arg) c.-69+2793G>C (n.-69+2793G>C) | |
10 | g.49611992G>T | CA376722562 | CHAT,SLC18A3 | c.1252G>T (p.Gly418Cys) c.-69+2793G>T (n.-69+2793G>T) | |
10 | g.49611993G>A | CA5496928 | CHAT,SLC18A3 | c.1253G>A (p.Gly418Asp) c.-69+2794G>A (n.-69+2794G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.49611993G>C | CA376722569 | CHAT,SLC18A3 | c.1253G>C (p.Gly418Ala) c.-69+2794G>C (n.-69+2794G>C) | |
10 | g.49611993G= | CA1908795153 | CHAT,SLC18A3 | c.1253G= (p.Gly418=) c.-69+2794G= (n.-69+2794G=) | |
10 | g.49611993G>T | CA376722572 | CHAT,SLC18A3 | c.1253G>T (p.Gly418Val) c.-69+2794G>T (n.-69+2794G>T) | |
10 | g.49611994C>A | CA469791956 | CHAT,SLC18A3 | c.1254C>A (p.Gly418=) c.-69+2795C>A (n.-69+2795C>A) | |
10 | g.49611994C>G | CA469791958 | CHAT,SLC18A3 | c.1254C>G (p.Gly418=) c.-69+2795C>G (n.-69+2795C>G) | |
10 | g.49611994C>T | CA469791960 | CHAT,SLC18A3 | c.1254C>T (p.Gly418=) c.-69+2795C>T (n.-69+2795C>T) | |
10 | g.49611995A>C | CA376722576 | CHAT,SLC18A3 | c.1255A>C (p.Ser419Arg) c.-69+2796A>C (n.-69+2796A>C) | |
10 | g.49611995A>G | CA376722578 | CHAT,SLC18A3 | c.1255A>G (p.Ser419Gly) c.-69+2796A>G (n.-69+2796A>G) | |
10 | g.49611995A>T | CA376722583 | CHAT,SLC18A3 | c.1255A>T (p.Ser419Cys) c.-69+2796A>T (n.-69+2796A>T) | |
10 | g.49611996G>A | CA376722586 | CHAT,SLC18A3 | c.1256G>A (p.Ser419Asn) c.-69+2797G>A (n.-69+2797G>A) | |
10 | g.49611996G>C | CA376722589 | CHAT,SLC18A3 | c.1256G>C (p.Ser419Thr) c.-69+2797G>C (n.-69+2797G>C) | |
10 | g.49611996G>T | CA376722588 | CHAT,SLC18A3 | c.1256G>T (p.Ser419Ile) c.-69+2797G>T (n.-69+2797G>T) | |
10 | g.49611997C>A | CA376722595 | CHAT,SLC18A3 | c.1257C>A (p.Ser419Arg) c.-69+2798C>A (n.-69+2798C>A) | |
10 | g.49611997C>G | CA376722596 | CHAT,SLC18A3 | c.1257C>G (p.Ser419Arg) c.-69+2798C>G (n.-69+2798C>G) | |
10 | g.49611997C>T | CA469791981 | CHAT,SLC18A3 | c.1257C>T (p.Ser419=) c.-69+2798C>T (n.-69+2798C>T) | COSMIC |
10 | g.49611998G>A | CA376722600 | CHAT,SLC18A3 | c.1258G>A (p.Val420Ile) c.-69+2799G>A (n.-69+2799G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.49611998G>C | CA376722604 | CHAT,SLC18A3 | c.1258G>C (p.Val420Leu) c.-69+2799G>C (n.-69+2799G>C) | |
10 | g.49611998G= | CA1908795156 | CHAT,SLC18A3 | c.1258G= (p.Val420=) c.-69+2799G= (n.-69+2799G=) | |
10 | g.49611998G>T | CA376722607 | CHAT,SLC18A3 | c.1258G>T (p.Val420Phe) c.-69+2799G>T (n.-69+2799G>T) | |
10 | g.49611999T>A | CA376722612 | CHAT,SLC18A3 | c.1259T>A (p.Val420Asp) c.-69+2800T>A (n.-69+2800T>A) | |
10 | g.49611999T>C | CA376722614 | CHAT,SLC18A3 | c.1259T>C (p.Val420Ala) c.-69+2800T>C (n.-69+2800T>C) | |
10 | g.49611999T>G | CA376722618 | CHAT,SLC18A3 | c.1259T>G (p.Val420Gly) c.-69+2800T>G (n.-69+2800T>G) | dbSNP |
10 | g.49611999T= | CA1908795159 | CHAT,SLC18A3 | c.1259T= (p.Val420=) c.-69+2800T= (n.-69+2800T=) | |
10 | g.49612000C>A | CA469792004 | CHAT,SLC18A3 | c.1260C>A (p.Val420=) c.-69+2801C>A (n.-69+2801C>A) | |
10 | g.49612000C>G | CA469791993 | CHAT,SLC18A3 | c.1260C>G (p.Val420=) c.-69+2801C>G (n.-69+2801C>G) | gnomAD v4 |
10 | g.49612000C>T | CA469791990 | CHAT,SLC18A3 | c.1260C>T (p.Val420=) c.-69+2801C>T (n.-69+2801C>T) | |
10 | g.49612001T>A | CA376722621 | CHAT,SLC18A3 | c.1261T>A (p.Tyr421Asn) c.-69+2802T>A (n.-69+2802T>A) | |
10 | g.49612001T>C | CA376722624 | CHAT,SLC18A3 | c.1261T>C (p.Tyr421His) c.-69+2802T>C (n.-69+2802T>C) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.49612001T>G | CA376722628 | CHAT,SLC18A3 | c.1261T>G (p.Tyr421Asp) c.-69+2802T>G (n.-69+2802T>G) | |
10 | g.49612001T= | CA1908795160 | CHAT,SLC18A3 | c.1261T= (p.Tyr421=) c.-69+2802T= (n.-69+2802T=) | |
10 | g.49612002A>C | CA376722632 | CHAT,SLC18A3 | c.1262A>C (p.Tyr421Ser) c.-69+2803A>C (n.-69+2803A>C) | |
10 | g.49612002A>G | CA376722635 | CHAT,SLC18A3 | c.1262A>G (p.Tyr421Cys) c.-69+2803A>G (n.-69+2803A>G) | |
10 | g.49612002A>T | CA376722637 | CHAT,SLC18A3 | c.1262A>T (p.Tyr421Phe) c.-69+2803A>T (n.-69+2803A>T) | |
10 | g.49612003C>A | CA376722647 | CHAT,SLC18A3 | c.1263C>A (p.Tyr421Ter) c.-69+2804C>A (n.-69+2804C>A) | |
10 | g.49612003C= | CA1908795163 | CHAT,SLC18A3 | c.1263C= (p.Tyr421=) c.-69+2804C= (n.-69+2804C=) | |
10 | g.49612003C>G | CA376722643 | CHAT,SLC18A3 | c.1263C>G (p.Tyr421Ter) c.-69+2804C>G (n.-69+2804C>G) | |
10 | g.49612003C>T | CA469792017 | CHAT,SLC18A3 | c.1263C>T (p.Tyr421=) c.-69+2804C>T (n.-69+2804C>T) | dbSNP gnomAD v2 COSMIC |
10 | g.49612004G>A | CA376722651 | CHAT,SLC18A3 | c.1264G>A (p.Ala422Thr) c.-69+2805G>A (n.-69+2805G>A) | dbSNP |
10 | g.49612004G>C | CA376722654 | CHAT,SLC18A3 | c.1264G>C (p.Ala422Pro) c.-69+2805G>C (n.-69+2805G>C) | |
10 | g.49612004G= | CA1908795167 | CHAT,SLC18A3 | c.1264G= (p.Ala422=) c.-69+2805G= (n.-69+2805G=) | |
10 | g.49612004G>T | CA376722658 | CHAT,SLC18A3 | c.1264G>T (p.Ala422Ser) c.-69+2805G>T (n.-69+2805G>T) | |
10 | g.49612005C>A | CA376722663 | CHAT,SLC18A3 | c.1265C>A (p.Ala422Asp) c.-69+2806C>A (n.-69+2806C>A) | |
10 | g.49612005C= | CA1908795169 | CHAT,SLC18A3 | c.1265C= (p.Ala422=) c.-69+2806C= (n.-69+2806C=) | |
10 | g.49612005C>G | CA5496929 | CHAT,SLC18A3 | c.1265C>G (p.Ala422Gly) c.-69+2806C>G (n.-69+2806C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.49612005C>T | CA376722668 | CHAT,SLC18A3 | c.1265C>T (p.Ala422Val) c.-69+2806C>T (n.-69+2806C>T) | dbSNP gnomAD v2 |
10 | g.49612006C>A | CA469792029 | CHAT,SLC18A3 | c.1266C>A (p.Ala422=) c.-69+2807C>A (n.-69+2807C>A) | |
10 | g.49612006C>G | CA469792030 | CHAT,SLC18A3 | c.1266C>G (p.Ala422=) c.-69+2807C>G (n.-69+2807C>G) | |
10 | g.49612006C>T | CA469792031 | CHAT,SLC18A3 | c.1266C>T (p.Ala422=) c.-69+2807C>T (n.-69+2807C>T) | |
10 | g.49612007A= | CA1908795175 | CHAT,SLC18A3 | c.1267A= (p.Ile423=) c.-69+2808A= (n.-69+2808A=) | |
10 | g.49612007A>C | CA376722671 | CHAT,SLC18A3 | c.1267A>C (p.Ile423Leu) c.-69+2808A>C (n.-69+2808A>C) | dbSNP |
10 | g.49612007A>G | CA376722674 | CHAT,SLC18A3 | c.1267A>G (p.Ile423Val) c.-69+2808A>G (n.-69+2808A>G) | |
10 | g.49612007A>T | CA376722675 | CHAT,SLC18A3 | c.1267A>T (p.Ile423Phe) c.-69+2808A>T (n.-69+2808A>T) | |
10 | g.49612008T>A | CA376722680 | CHAT,SLC18A3 | c.1268T>A (p.Ile423Asn) c.-69+2809T>A (n.-69+2809T>A) | |
10 | g.49612008T>C | CA376722683 | CHAT,SLC18A3 | c.1268T>C (p.Ile423Thr) c.-69+2809T>C (n.-69+2809T>C) | |
10 | g.49612008T>G | CA376722685 | CHAT,SLC18A3 | c.1268T>G (p.Ile423Ser) c.-69+2809T>G (n.-69+2809T>G) | |
10 | g.49612009C>A | CA469792040 | CHAT,SLC18A3 | c.1269C>A (p.Ile423=) c.-69+2810C>A (n.-69+2810C>A) | |
10 | g.49612009C= | CA1908795178 | CHAT,SLC18A3 | c.1269C= (p.Ile423=) c.-69+2810C= (n.-69+2810C=) | |
10 | g.49612009C>G | CA5496931 | CHAT,SLC18A3 | c.1269C>G (p.Ile423Met) c.-69+2810C>G (n.-69+2810C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.49612009C>T | CA5496930 | CHAT,SLC18A3 | c.1269C>T (p.Ile423=) c.-69+2810C>T (n.-69+2810C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
10 | g.49612010G>A | CA5496932 | CHAT,SLC18A3 | c.1270G>A (p.Ala424Thr) c.-69+2811G>A (n.-69+2811G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
10 | g.49612010G>C | CA376722698 | CHAT,SLC18A3 | c.1270G>C (p.Ala424Pro) c.-69+2811G>C (n.-69+2811G>C) | |
10 | g.49612010G= | CA1908795184 | CHAT,SLC18A3 | c.1270G= (p.Ala424=) c.-69+2811G= (n.-69+2811G=) | |
10 | g.49612010G>T | CA376722701 | CHAT,SLC18A3 | c.1270G>T (p.Ala424Ser) c.-69+2811G>T (n.-69+2811G>T) | gnomAD v4 |
10 | g.49612011C>A | CA376722705 | CHAT,SLC18A3 | c.1271C>A (p.Ala424Asp) c.-69+2812C>A (n.-69+2812C>A) | |
10 | g.49612011C>G | CA376722708 | CHAT,SLC18A3 | c.1271C>G (p.Ala424Gly) c.-69+2812C>G (n.-69+2812C>G) | |
10 | g.49612011C>T | CA376722711 | CHAT,SLC18A3 | c.1271C>T (p.Ala424Val) c.-69+2812C>T (n.-69+2812C>T) | |
10 | g.49612012C>A | CA469792048 | CHAT,SLC18A3 | c.1272C>A (p.Ala424=) c.-69+2813C>A (n.-69+2813C>A) | |
10 | g.49612012C= | CA1908795187 | CHAT,SLC18A3 | c.1272C= (p.Ala424=) c.-69+2813C= (n.-69+2813C=) | |
10 | g.49612012C>G | CA469792047 | CHAT,SLC18A3 | c.1272C>G (p.Ala424=) c.-69+2813C>G (n.-69+2813C>G) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.49612012C>T | CA469792050 | CHAT,SLC18A3 | c.1272C>T (p.Ala424=) c.-69+2813C>T (n.-69+2813C>T) | gnomAD v4 |
10 | g.49612013G>A | CA376722720 | CHAT,SLC18A3 | c.1273G>A (p.Asp425Asn) c.-69+2814G>A (n.-69+2814G>A) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.49612013G>C | CA376722716 | CHAT,SLC18A3 | c.1273G>C (p.Asp425His) c.-69+2814G>C (n.-69+2814G>C) | |
10 | g.49612013G= | CA1908795190 | CHAT,SLC18A3 | c.1273G= (p.Asp425=) c.-69+2814G= (n.-69+2814G=) | |
10 | g.49612013G>T | CA376722717 | CHAT,SLC18A3 | c.1273G>T (p.Asp425Tyr) c.-69+2814G>T (n.-69+2814G>T) | |
10 | g.49612014A>C | CA376722723 | CHAT,SLC18A3 | c.1274A>C (p.Asp425Ala) c.-69+2815A>C (n.-69+2815A>C) | |
10 | g.49612014A>G | CA376722726 | CHAT,SLC18A3 | c.1274A>G (p.Asp425Gly) c.-69+2815A>G (n.-69+2815A>G) | gnomAD v4 |
10 | g.49612014A>T | CA376722729 | CHAT,SLC18A3 | c.1274A>T (p.Asp425Val) c.-69+2815A>T (n.-69+2815A>T) | |
10 | g.49612015C>A | CA376722733 | CHAT,SLC18A3 | c.1275C>A (p.Asp425Glu) c.-69+2816C>A (n.-69+2816C>A) | |
10 | g.49612015C= | CA1908795194 | CHAT,SLC18A3 | c.1275C= (p.Asp425=) c.-69+2816C= (n.-69+2816C=) | |
10 | g.49612015C>G | CA376722734 | CHAT,SLC18A3 | c.1275C>G (p.Asp425Glu) c.-69+2816C>G (n.-69+2816C>G) | |
10 | g.49612015C>T | CA469792056 | CHAT,SLC18A3 | c.1275C>T (p.Asp425=) c.-69+2816C>T (n.-69+2816C>T) | dbSNP gnomAD v4 |