Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
10 | g.49611784_49611800del | CA2609116975 | CHAT,SLC18A3 | c.1044_1060del (p.Ala349ProfsTer?) c.-69+2585_-69+2601del (n.-69+2585_-69+2601del) | gnomAD v4 |
10 | g.49611792G>A | CA376721948 | CHAT,SLC18A3 | c.1052G>A (p.Arg351His) c.-69+2593G>A (n.-69+2593G>A) | dbSNP gnomAD v4 |
10 | g.49611792G>C | CA376721949 | CHAT,SLC18A3 | c.1052G>C (p.Arg351Pro) c.-69+2593G>C (n.-69+2593G>C) | |
10 | g.49611792G= | CA1908794730 | CHAT,SLC18A3 | c.1052G= (p.Arg351=) c.-69+2593G= (n.-69+2593G=) | |
10 | g.49611792G>T | CA376721947 | CHAT,SLC18A3 | c.1052G>T (p.Arg351Leu) c.-69+2593G>T (n.-69+2593G>T) | gnomAD v4 |
10 | g.49611793C>A | CA469791564 | CHAT,SLC18A3 | c.1053C>A (p.Arg351=) c.-69+2594C>A (n.-69+2594C>A) | |
10 | g.49611793C>G | CA469791565 | CHAT,SLC18A3 | c.1053C>G (p.Arg351=) c.-69+2594C>G (n.-69+2594C>G) | |
10 | g.49611793C>T | CA469791566 | CHAT,SLC18A3 | c.1053C>T (p.Arg351=) c.-69+2594C>T (n.-69+2594C>T) | |
10 | g.49611794T>A | CA376721951 | CHAT,SLC18A3 | c.1054T>A (p.Tyr352Asn) c.-69+2595T>A (n.-69+2595T>A) | |
10 | g.49611794T>C | CA376721950 | CHAT,SLC18A3 | c.1054T>C (p.Tyr352His) c.-69+2595T>C (n.-69+2595T>C) | |
10 | g.49611794T>G | CA376721952 | CHAT,SLC18A3 | c.1054T>G (p.Tyr352Asp) c.-69+2595T>G (n.-69+2595T>G) | |
10 | g.49611795A>C | CA376721953 | CHAT,SLC18A3 | c.1055A>C (p.Tyr352Ser) c.-69+2596A>C (n.-69+2596A>C) | |
10 | g.49611795A>G | CA376721955 | CHAT,SLC18A3 | c.1055A>G (p.Tyr352Cys) c.-69+2596A>G (n.-69+2596A>G) | gnomAD v4 |
10 | g.49611795A>T | CA376721954 | CHAT,SLC18A3 | c.1055A>T (p.Tyr352Phe) c.-69+2596A>T (n.-69+2596A>T) | |
10 | g.49611796C>A | CA376721956 | CHAT,SLC18A3 | c.1056C>A (p.Tyr352Ter) c.-69+2597C>A (n.-69+2597C>A) | |
10 | g.49611796C>G | CA376721957 | CHAT,SLC18A3 | c.1056C>G (p.Tyr352Ter) c.-69+2597C>G (n.-69+2597C>G) | |
10 | g.49611796C>T | CA469791569 | CHAT,SLC18A3 | c.1056C>T (p.Tyr352=) c.-69+2597C>T (n.-69+2597C>T) | gnomAD v4 |
10 | g.49611798del | CA645559474 | CHAT,SLC18A3 | c.1058del (p.Pro353HisfsTer14) c.-69+2599del (n.-69+2599del) | COSMIC |
10 | g.49611796_49611801delinsCCCACA | CA1908794736 | CHAT,SLC18A3 | c.1056_1061delinsCCCACA (p.Tyr352=) c.-69+2597_-69+2602delinsCCCACA (n.-69+2597_-69+2602delinsCCCACA) | |
10 | g.49611797C>A | CA376721958 | CHAT,SLC18A3 | c.1057C>A (p.Pro353Thr) c.-69+2598C>A (n.-69+2598C>A) | |
10 | g.49611797C>G | CA376721959 | CHAT,SLC18A3 | c.1057C>G (p.Pro353Ala) c.-69+2598C>G (n.-69+2598C>G) | |
10 | g.49611797C>T | CA376721960 | CHAT,SLC18A3 | c.1057C>T (p.Pro353Ser) c.-69+2598C>T (n.-69+2598C>T) | |
10 | g.49611799_49611803del | CA5496893 | CHAT,SLC18A3 | c.1059_1063del (p.His354AlafsTer?) c.-69+2600_-69+2604del (n.-69+2600_-69+2604del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.49611798C>A | CA376721963 | CHAT,SLC18A3 | c.1058C>A (p.Pro353Gln) c.-69+2599C>A (n.-69+2599C>A) | |
10 | g.49611798C>G | CA376721961 | CHAT,SLC18A3 | c.1058C>G (p.Pro353Arg) c.-69+2599C>G (n.-69+2599C>G) | |
10 | g.49611798C>T | CA376721962 | CHAT,SLC18A3 | c.1058C>T (p.Pro353Leu) c.-69+2599C>T (n.-69+2599C>T) | |
10 | g.49611799A= | CA1908794740 | CHAT,SLC18A3 | c.1059A= (p.Pro353=) c.-69+2600A= (n.-69+2600A=) | |
10 | g.49611799A>C | CA469791583 | CHAT,SLC18A3 | c.1059A>C (p.Pro353=) c.-69+2600A>C (n.-69+2600A>C) | dbSNP gnomAD v4 |
10 | g.49611799A>G | CA469791585 | CHAT,SLC18A3 | c.1059A>G (p.Pro353=) c.-69+2600A>G (n.-69+2600A>G) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.49611799A>T | CA469791584 | CHAT,SLC18A3 | c.1059A>T (p.Pro353=) c.-69+2600A>T (n.-69+2600A>T) | |
10 | g.49611800C>A | CA376721964 | CHAT,SLC18A3 | c.1060C>A (p.His354Asn) c.-69+2601C>A (n.-69+2601C>A) | |
10 | g.49611800C>G | CA376721965 | CHAT,SLC18A3 | c.1060C>G (p.His354Asp) c.-69+2601C>G (n.-69+2601C>G) | |
10 | g.49611800C>T | CA376721966 | CHAT,SLC18A3 | c.1060C>T (p.His354Tyr) c.-69+2601C>T (n.-69+2601C>T) | |
10 | g.49611801A= | CA1908794744 | CHAT,SLC18A3 | c.1061A= (p.His354=) c.-69+2602A= (n.-69+2602A=) | |
10 | g.49611801A>C | CA5496894 | CHAT,SLC18A3 | c.1061A>C (p.His354Pro) c.-69+2602A>C (n.-69+2602A>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.49611801A>G | CA376721967 | CHAT,SLC18A3 | c.1061A>G (p.His354Arg) c.-69+2602A>G (n.-69+2602A>G) | |
10 | g.49611801A>T | CA376721968 | CHAT,SLC18A3 | c.1061A>T (p.His354Leu) c.-69+2602A>T (n.-69+2602A>T) | |
10 | g.49611802C>A | CA376721969 | CHAT,SLC18A3 | c.1062C>A (p.His354Gln) c.-69+2603C>A (n.-69+2603C>A) | |
10 | g.49611802C= | CA1908794751 | CHAT,SLC18A3 | c.1062C= (p.His354=) c.-69+2603C= (n.-69+2603C=) | |
10 | g.49611802C>G | CA376721970 | CHAT,SLC18A3 | c.1062C>G (p.His354Gln) c.-69+2603C>G (n.-69+2603C>G) | |
10 | g.49611802C>T | CA5496895 | CHAT,SLC18A3 | c.1062C>T (p.His354=) c.-69+2603C>T (n.-69+2603C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.49611803C>A | CA376721972 | CHAT,SLC18A3 | c.1063C>A (p.Leu355Met) c.-69+2604C>A (n.-69+2604C>A) | |
10 | g.49611803C= | CA1908794752 | CHAT,SLC18A3 | c.1063C= (p.Leu355=) c.-69+2604C= (n.-69+2604C=) | |
10 | g.49611803C>G | CA376721971 | CHAT,SLC18A3 | c.1063C>G (p.Leu355Val) c.-69+2604C>G (n.-69+2604C>G) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
10 | g.49611803C>T | CA469791343 | CHAT,SLC18A3 | c.1063C>T (p.Leu355=) c.-69+2604C>T (n.-69+2604C>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
10 | g.49611804T>A | CA376721973 | CHAT,SLC18A3 | c.1064T>A (p.Leu355Gln) c.-69+2605T>A (n.-69+2605T>A) | |
10 | g.49611804T>C | CA376721974 | CHAT,SLC18A3 | c.1064T>C (p.Leu355Pro) c.-69+2605T>C (n.-69+2605T>C) | |
10 | g.49611804T>G | CA376721975 | CHAT,SLC18A3 | c.1064T>G (p.Leu355Arg) c.-69+2605T>G (n.-69+2605T>G) | gnomAD v4 |
10 | g.49611805G>A | CA469791353 | CHAT,SLC18A3 | c.1065G>A (p.Leu355=) c.-69+2606G>A (n.-69+2606G>A) | |
10 | g.49611805G>C | CA469791352 | CHAT,SLC18A3 | c.1065G>C (p.Leu355=) c.-69+2606G>C (n.-69+2606G>C) | |
10 | g.49611805G>T | CA469791351 | CHAT,SLC18A3 | c.1065G>T (p.Leu355=) c.-69+2606G>T (n.-69+2606G>T) | gnomAD v4 |
10 | g.49611806del | CA2609117023 | CHAT,SLC18A3 | c.1066del (p.Gln356SerfsTer11) c.-69+2607del (n.-69+2607del) | gnomAD v4 |
10 | g.49611806C>A | CA376721976 | CHAT,SLC18A3 | c.1066C>A (p.Gln356Lys) c.-69+2607C>A (n.-69+2607C>A) | gnomAD v4 |
10 | g.49611806C>G | CA376721977 | CHAT,SLC18A3 | c.1066C>G (p.Gln356Glu) c.-69+2607C>G (n.-69+2607C>G) | |
10 | g.49611806C>T | CA376721978 | CHAT,SLC18A3 | c.1066C>T (p.Gln356Ter) c.-69+2607C>T (n.-69+2607C>T) | gnomAD v4 |
10 | g.49611807A>C | CA376721979 | CHAT,SLC18A3 | c.1067A>C (p.Gln356Pro) c.-69+2608A>C (n.-69+2608A>C) | |
10 | g.49611807A>G | CA376721980 | CHAT,SLC18A3 | c.1067A>G (p.Gln356Arg) c.-69+2608A>G (n.-69+2608A>G) | |
10 | g.49611807A>T | CA376721981 | CHAT,SLC18A3 | c.1067A>T (p.Gln356Leu) c.-69+2608A>T (n.-69+2608A>T) | |
10 | g.49611808G>A | CA469791357 | CHAT,SLC18A3 | c.1068G>A (p.Gln356=) c.-69+2609G>A (n.-69+2609G>A) | |
10 | g.49611808G>C | CA376721982 | CHAT,SLC18A3 | c.1068G>C (p.Gln356His) c.-69+2609G>C (n.-69+2609G>C) | |
10 | g.49611808G>T | CA376721983 | CHAT,SLC18A3 | c.1068G>T (p.Gln356His) c.-69+2609G>T (n.-69+2609G>T) | |
10 | g.49611809T>A | CA376721986 | CHAT,SLC18A3 | c.1069T>A (p.Trp357Arg) c.-69+2610T>A (n.-69+2610T>A) | |
10 | g.49611809T>C | CA376721985 | CHAT,SLC18A3 | c.1069T>C (p.Trp357Arg) c.-69+2610T>C (n.-69+2610T>C) | |
10 | g.49611809T>G | CA376721984 | CHAT,SLC18A3 | c.1069T>G (p.Trp357Gly) c.-69+2610T>G (n.-69+2610T>G) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.49611809T= | CA1908794755 | CHAT,SLC18A3 | c.1069T= (p.Trp357=) c.-69+2610T= (n.-69+2610T=) | |
10 | g.49611810G>A | CA376721987 | CHAT,SLC18A3 | c.1070G>A (p.Trp357Ter) c.-69+2611G>A (n.-69+2611G>A) | |
10 | g.49611810G>C | CA376721988 | CHAT,SLC18A3 | c.1070G>C (p.Trp357Ser) c.-69+2611G>C (n.-69+2611G>C) | |
10 | g.49611810G>T | CA376721989 | CHAT,SLC18A3 | c.1070G>T (p.Trp357Leu) c.-69+2611G>T (n.-69+2611G>T) | |
10 | g.49611811G>A | CA376721990 | CHAT,SLC18A3 | c.1071G>A (p.Trp357Ter) c.-69+2612G>A (n.-69+2612G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.49611811G>C | CA376721991 | CHAT,SLC18A3 | c.1071G>C (p.Trp357Cys) c.-69+2612G>C (n.-69+2612G>C) | |
10 | g.49611811G= | CA1908794760 | CHAT,SLC18A3 | c.1071G= (p.Trp357=) c.-69+2612G= (n.-69+2612G=) | |
10 | g.49611811G>T | CA206621369 | CHAT,SLC18A3 | c.1071G>T (p.Trp357Cys) c.-69+2612G>T (n.-69+2612G>T) | dbSNP gnomAD v4 |
10 | g.49611812C>A | CA376721992 | CHAT,SLC18A3 | c.1072C>A (p.Leu358Met) c.-69+2613C>A (n.-69+2613C>A) | |
10 | g.49611812C= | CA1908794766 | CHAT,SLC18A3 | c.1072C= (p.Leu358=) c.-69+2613C= (n.-69+2613C=) | |
10 | g.49611812C>G | CA376721993 | CHAT,SLC18A3 | c.1072C>G (p.Leu358Val) c.-69+2613C>G (n.-69+2613C>G) | |
10 | g.49611812C>T | CA469791369 | CHAT,SLC18A3 | c.1072C>T (p.Leu358=) c.-69+2613C>T (n.-69+2613C>T) | dbSNP |
10 | g.49611813T>A | CA376721994 | CHAT,SLC18A3 | c.1073T>A (p.Leu358Gln) c.-69+2614T>A (n.-69+2614T>A) | |
10 | g.49611813T>C | CA376721995 | CHAT,SLC18A3 | c.1073T>C (p.Leu358Pro) c.-69+2614T>C (n.-69+2614T>C) | |
10 | g.49611813T>G | CA376721996 | CHAT,SLC18A3 | c.1073T>G (p.Leu358Arg) c.-69+2614T>G (n.-69+2614T>G) | |
10 | g.49611814G>A | CA469791372 | CHAT,SLC18A3 | c.1074G>A (p.Leu358=) c.-69+2615G>A (n.-69+2615G>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
10 | g.49611814G>C | CA469791374 | CHAT,SLC18A3 | c.1074G>C (p.Leu358=) c.-69+2615G>C (n.-69+2615G>C) | |
10 | g.49611814G= | CA1908794769 | CHAT,SLC18A3 | c.1074G= (p.Leu358=) c.-69+2615G= (n.-69+2615G=) | |
10 | g.49611814G>T | CA469791371 | CHAT,SLC18A3 | c.1074G>T (p.Leu358=) c.-69+2615G>T (n.-69+2615G>T) | gnomAD v4 |
10 | g.49611815T>A | CA376721998 | CHAT,SLC18A3 | c.1075T>A (p.Tyr359Asn) c.-69+2616T>A (n.-69+2616T>A) | |
10 | g.49611815T>C | CA376721997 | CHAT,SLC18A3 | c.1075T>C (p.Tyr359His) c.-69+2616T>C (n.-69+2616T>C) | gnomAD v4 |
10 | g.49611815T>G | CA206621371 | CHAT,SLC18A3 | c.1075T>G (p.Tyr359Asp) c.-69+2616T>G (n.-69+2616T>G) | dbSNP |
10 | g.49611815T= | CA1908794771 | CHAT,SLC18A3 | c.1075T= (p.Tyr359=) c.-69+2616T= (n.-69+2616T=) | |
10 | g.49611816A= | CA1908794775 | CHAT,SLC18A3 | c.1076A= (p.Tyr359=) c.-69+2617A= (n.-69+2617A=) | |
10 | g.49611816A>C | CA206621373 | CHAT,SLC18A3 | c.1076A>C (p.Tyr359Ser) c.-69+2617A>C (n.-69+2617A>C) | dbSNP |
10 | g.49611816A>G | CA376721999 | CHAT,SLC18A3 | c.1076A>G (p.Tyr359Cys) c.-69+2617A>G (n.-69+2617A>G) | |
10 | g.49611816A>T | CA376722000 | CHAT,SLC18A3 | c.1076A>T (p.Tyr359Phe) c.-69+2617A>T (n.-69+2617A>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
10 | g.49611817C>A | CA376722001 | CHAT,SLC18A3 | c.1077C>A (p.Tyr359Ter) c.-69+2618C>A (n.-69+2618C>A) | dbSNP gnomAD v4 |
10 | g.49611817C= | CA1908794785 | CHAT,SLC18A3 | c.1077C= (p.Tyr359=) c.-69+2618C= (n.-69+2618C=) | |
10 | g.49611817C>G | CA376722002 | CHAT,SLC18A3 | c.1077C>G (p.Tyr359Ter) c.-69+2618C>G (n.-69+2618C>G) | |
10 | g.49611817C>T | CA469791383 | CHAT,SLC18A3 | c.1077C>T (p.Tyr359=) c.-69+2618C>T (n.-69+2618C>T) | gnomAD v4 COSMIC |
10 | g.49611818G>A | CA376722003 | CHAT,SLC18A3 | c.1078G>A (p.Gly360Ser) c.-69+2619G>A (n.-69+2619G>A) | dbSNP gnomAD v4 |
10 | g.49611818G>C | CA376722004 | CHAT,SLC18A3 | c.1078G>C (p.Gly360Arg) c.-69+2619G>C (n.-69+2619G>C) | dbSNP |
10 | g.49611818G= | CA1908794786 | CHAT,SLC18A3 | c.1078G= (p.Gly360=) c.-69+2619G= (n.-69+2619G=) | |
10 | g.49611818G>T | CA5496896 | CHAT,SLC18A3 | c.1078G>T (p.Gly360Cys) c.-69+2619G>T (n.-69+2619G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.49611819G>A | CA376722005 | CHAT,SLC18A3 | c.1079G>A (p.Gly360Asp) c.-69+2620G>A (n.-69+2620G>A) | |
10 | g.49611819G>C | CA376722006 | CHAT,SLC18A3 | c.1079G>C (p.Gly360Ala) c.-69+2620G>C (n.-69+2620G>C) | |
10 | g.49611819G>T | CA376722007 | CHAT,SLC18A3 | c.1079G>T (p.Gly360Val) c.-69+2620G>T (n.-69+2620G>T) | |
10 | g.49611820C>A | CA469791390 | CHAT,SLC18A3 | c.1080C>A (p.Gly360=) c.-69+2621C>A (n.-69+2621C>A) | gnomAD v4 |
10 | g.49611820C= | CA1908794798 | CHAT,SLC18A3 | c.1080C= (p.Gly360=) c.-69+2621C= (n.-69+2621C=) | |
10 | g.49611820C>G | CA469791392 | CHAT,SLC18A3 | c.1080C>G (p.Gly360=) c.-69+2621C>G (n.-69+2621C>G) | |
10 | g.49611820C>T | CA5496897 | CHAT,SLC18A3 | c.1080C>T (p.Gly360=) c.-69+2621C>T (n.-69+2621C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.49611821G>A | CA376722008 | CHAT,SLC18A3 | c.1081G>A (p.Ala361Thr) c.-69+2622G>A (n.-69+2622G>A) | dbSNP gnomAD v4 |
10 | g.49611821G>C | CA376722009 | CHAT,SLC18A3 | c.1081G>C (p.Ala361Pro) c.-69+2622G>C (n.-69+2622G>C) | |
10 | g.49611821G= | CA1908794804 | CHAT,SLC18A3 | c.1081G= (p.Ala361=) c.-69+2622G= (n.-69+2622G=) | |
10 | g.49611821G>T | CA5496898 | CHAT,SLC18A3 | c.1081G>T (p.Ala361Ser) c.-69+2622G>T (n.-69+2622G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.49611822C>A | CA376722010 | CHAT,SLC18A3 | c.1082C>A (p.Ala361Glu) c.-69+2623C>A (n.-69+2623C>A) | |
10 | g.49611822C>G | CA376722011 | CHAT,SLC18A3 | c.1082C>G (p.Ala361Gly) c.-69+2623C>G (n.-69+2623C>G) | |
10 | g.49611822C>T | CA376722012 | CHAT,SLC18A3 | c.1082C>T (p.Ala361Val) c.-69+2623C>T (n.-69+2623C>T) | gnomAD v4 COSMIC |
10 | g.49611823G>A | CA469791395 | CHAT,SLC18A3 | c.1083G>A (p.Ala361=) c.-69+2624G>A (n.-69+2624G>A) | dbSNP COSMIC |
10 | g.49611823G>C | CA469791396 | CHAT,SLC18A3 | c.1083G>C (p.Ala361=) c.-69+2624G>C (n.-69+2624G>C) | dbSNP gnomAD v4 |
10 | g.49611823G= | CA1908794809 | CHAT,SLC18A3 | c.1083G= (p.Ala361=) c.-69+2624G= (n.-69+2624G=) | |
10 | g.49611823G>T | CA206621384 | CHAT,SLC18A3 | c.1083G>T (p.Ala361=) c.-69+2624G>T (n.-69+2624G>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
10 | g.49611824C>A | CA376722013 | CHAT,SLC18A3 | c.1084C>A (p.Leu362Ile) c.-69+2625C>A (n.-69+2625C>A) | |
10 | g.49611824C= | CA1908794814 | CHAT,SLC18A3 | c.1084C= (p.Leu362=) c.-69+2625C= (n.-69+2625C=) | |
10 | g.49611824C>G | CA5496899 | CHAT,SLC18A3 | c.1084C>G (p.Leu362Val) c.-69+2625C>G (n.-69+2625C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
10 | g.49611824C>T | CA376722014 | CHAT,SLC18A3 | c.1084C>T (p.Leu362Phe) c.-69+2625C>T (n.-69+2625C>T) | |
10 | g.49611825T>A | CA376722015 | CHAT,SLC18A3 | c.1085T>A (p.Leu362His) c.-69+2626T>A (n.-69+2626T>A) | |
10 | g.49611825T>C | CA376722017 | CHAT,SLC18A3 | c.1085T>C (p.Leu362Pro) c.-69+2626T>C (n.-69+2626T>C) | |
10 | g.49611825T>G | CA376722016 | CHAT,SLC18A3 | c.1085T>G (p.Leu362Arg) c.-69+2626T>G (n.-69+2626T>G) | |
10 | g.49611826T>A | CA469791403 | CHAT,SLC18A3 | c.1086T>A (p.Leu362=) c.-69+2627T>A (n.-69+2627T>A) | gnomAD v4 |
10 | g.49611826T>C | CA469791406 | CHAT,SLC18A3 | c.1086T>C (p.Leu362=) c.-69+2627T>C (n.-69+2627T>C) | gnomAD v4 |
10 | g.49611826T>G | CA469791405 | CHAT,SLC18A3 | c.1086T>G (p.Leu362=) c.-69+2627T>G (n.-69+2627T>G) | |
10 | g.49611826_49611827delinsTG | CA1908794817 | CHAT,SLC18A3 | c.1086_1087delinsTG (p.Leu362=) c.-69+2627_-69+2628delinsTG (n.-69+2627_-69+2628delinsTG) | |
10 | g.49611827G>A | CA376722018 | CHAT,SLC18A3 | c.1087G>A (p.Gly363Arg) c.-69+2628G>A (n.-69+2628G>A) | |
10 | g.49611827G>C | CA376722019 | CHAT,SLC18A3 | c.1087G>C (p.Gly363Arg) c.-69+2628G>C (n.-69+2628G>C) | |
10 | g.49611827G>T | CA376722020 | CHAT,SLC18A3 | c.1087G>T (p.Gly363Trp) c.-69+2628G>T (n.-69+2628G>T) | gnomAD v4 |
10 | g.49611829del | CA5496900 | CHAT,SLC18A3 | c.1089del (p.Leu364TrpfsTer3) c.-69+2630del (n.-69+2630del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.49611828G>A | CA376722023 | CHAT,SLC18A3 | c.1088G>A (p.Gly363Glu) c.-69+2629G>A (n.-69+2629G>A) | |
10 | g.49611828G>C | CA376722021 | CHAT,SLC18A3 | c.1088G>C (p.Gly363Ala) c.-69+2629G>C (n.-69+2629G>C) | |
10 | g.49611828G>T | CA376722022 | CHAT,SLC18A3 | c.1088G>T (p.Gly363Val) c.-69+2629G>T (n.-69+2629G>T) | gnomAD v4 |
10 | g.49611829G>A | CA469791414 | CHAT,SLC18A3 | c.1089G>A (p.Gly363=) c.-69+2630G>A (n.-69+2630G>A) | gnomAD v4 |
10 | g.49611829G>C | CA469791412 | CHAT,SLC18A3 | c.1089G>C (p.Gly363=) c.-69+2630G>C (n.-69+2630G>C) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.49611829G= | CA1908794825 | CHAT,SLC18A3 | c.1089G= (p.Gly363=) c.-69+2630G= (n.-69+2630G=) | |
10 | g.49611829G>T | CA469791409 | CHAT,SLC18A3 | c.1089G>T (p.Gly363=) c.-69+2630G>T (n.-69+2630G>T) | gnomAD v4 |
10 | g.49611830C>A | CA376722024 | CHAT,SLC18A3 | c.1090C>A (p.Leu364Met) c.-69+2631C>A (n.-69+2631C>A) | |
10 | g.49611830C= | CA1908794826 | CHAT,SLC18A3 | c.1090C= (p.Leu364=) c.-69+2631C= (n.-69+2631C=) | |
10 | g.49611830C>G | CA376722025 | CHAT,SLC18A3 | c.1090C>G (p.Leu364Val) c.-69+2631C>G (n.-69+2631C>G) | |
10 | g.49611830C>T | CA206621391 | CHAT,SLC18A3 | c.1090C>T (p.Leu364=) c.-69+2631C>T (n.-69+2631C>T) | dbSNP gnomAD v2 |
10 | g.49611831T>A | CA376722026 | CHAT,SLC18A3 | c.1091T>A (p.Leu364Gln) c.-69+2632T>A (n.-69+2632T>A) | |
10 | g.49611831T>C | CA376722027 | CHAT,SLC18A3 | c.1091T>C (p.Leu364Pro) c.-69+2632T>C (n.-69+2632T>C) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.49611831T>G | CA376722028 | CHAT,SLC18A3 | c.1091T>G (p.Leu364Arg) c.-69+2632T>G (n.-69+2632T>G) | |
10 | g.49611831T= | CA1908794829 | CHAT,SLC18A3 | c.1091T= (p.Leu364=) c.-69+2632T= (n.-69+2632T=) | |
10 | g.49611832G>A | CA469791417 | CHAT,SLC18A3 | c.1092G>A (p.Leu364=) c.-69+2633G>A (n.-69+2633G>A) | |
10 | g.49611832G>C | CA5496901 | CHAT,SLC18A3 | c.1092G>C (p.Leu364=) c.-69+2633G>C (n.-69+2633G>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.49611832G= | CA1908794831 | CHAT,SLC18A3 | c.1092G= (p.Leu364=) c.-69+2633G= (n.-69+2633G=) | |
10 | g.49611832G>T | CA469791419 | CHAT,SLC18A3 | c.1092G>T (p.Leu364=) c.-69+2633G>T (n.-69+2633G>T) | dbSNP gnomAD v4 |
10 | g.49611833G>A | CA376722029 | CHAT,SLC18A3 | c.1093G>A (p.Ala365Thr) c.-69+2634G>A (n.-69+2634G>A) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.49611833G>C | CA376722030 | CHAT,SLC18A3 | c.1093G>C (p.Ala365Pro) c.-69+2634G>C (n.-69+2634G>C) | ClinVar dbSNP |
10 | g.49611833G= | CA1908794834 | CHAT,SLC18A3 | c.1093G= (p.Ala365=) c.-69+2634G= (n.-69+2634G=) | |
10 | g.49611833G>T | CA376722031 | CHAT,SLC18A3 | c.1093G>T (p.Ala365Ser) c.-69+2634G>T (n.-69+2634G>T) | gnomAD v4 |
10 | g.49611834C>A | CA376722032 | CHAT,SLC18A3 | c.1094C>A (p.Ala365Asp) c.-69+2635C>A (n.-69+2635C>A) | |
10 | g.49611834C= | CA1908794838 | CHAT,SLC18A3 | c.1094C= (p.Ala365=) c.-69+2635C= (n.-69+2635C=) | |
10 | g.49611834C>G | CA376722033 | CHAT,SLC18A3 | c.1094C>G (p.Ala365Gly) c.-69+2635C>G (n.-69+2635C>G) | |
10 | g.49611834C>T | CA376722034 | CHAT,SLC18A3 | c.1094C>T (p.Ala365Val) c.-69+2635C>T (n.-69+2635C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.49611835T>A | CA469791429 | CHAT,SLC18A3 | c.1095T>A (p.Ala365=) c.-69+2636T>A (n.-69+2636T>A) | |
10 | g.49611835T>C | CA469791426 | CHAT,SLC18A3 | c.1095T>C (p.Ala365=) c.-69+2636T>C (n.-69+2636T>C) | |
10 | g.49611835T>G | CA469791427 | CHAT,SLC18A3 | c.1095T>G (p.Ala365=) c.-69+2636T>G (n.-69+2636T>G) | COSMIC |
10 | g.49611836G>A | CA376722035 | CHAT,SLC18A3 | c.1096G>A (p.Val366Met) c.-69+2637G>A (n.-69+2637G>A) | |
10 | g.49611836G>C | CA376722037 | CHAT,SLC18A3 | c.1096G>C (p.Val366Leu) c.-69+2637G>C (n.-69+2637G>C) | |
10 | g.49611836G>T | CA376722036 | CHAT,SLC18A3 | c.1096G>T (p.Val366Leu) c.-69+2637G>T (n.-69+2637G>T) | gnomAD v4 |
10 | g.49611837T>A | CA376722038 | CHAT,SLC18A3 | c.1097T>A (p.Val366Glu) c.-69+2638T>A (n.-69+2638T>A) | |
10 | g.49611837T>C | CA376722039 | CHAT,SLC18A3 | c.1097T>C (p.Val366Ala) c.-69+2638T>C (n.-69+2638T>C) | |
10 | g.49611837T>G | CA376722040 | CHAT,SLC18A3 | c.1097T>G (p.Val366Gly) c.-69+2638T>G (n.-69+2638T>G) | |
10 | g.49611838G>A | CA469791433 | CHAT,SLC18A3 | c.1098G>A (p.Val366=) c.-69+2639G>A (n.-69+2639G>A) | |
10 | g.49611838G>C | CA469791434 | CHAT,SLC18A3 | c.1098G>C (p.Val366=) c.-69+2639G>C (n.-69+2639G>C) | |
10 | g.49611838G>T | CA469791437 | CHAT,SLC18A3 | c.1098G>T (p.Val366=) c.-69+2639G>T (n.-69+2639G>T) | gnomAD v4 |
10 | g.49611839A>C | CA376722041 | CHAT,SLC18A3 | c.1099A>C (p.Ile367Leu) c.-69+2640A>C (n.-69+2640A>C) | |
10 | g.49611839A>G | CA376722042 | CHAT,SLC18A3 | c.1099A>G (p.Ile367Val) c.-69+2640A>G (n.-69+2640A>G) | |
10 | g.49611839A>T | CA376722043 | CHAT,SLC18A3 | c.1099A>T (p.Ile367Phe) c.-69+2640A>T (n.-69+2640A>T) | |
10 | g.49611840T>A | CA376722044 | CHAT,SLC18A3 | c.1100T>A (p.Ile367Asn) c.-69+2641T>A (n.-69+2641T>A) | |
10 | g.49611840T>C | CA376722045 | CHAT,SLC18A3 | c.1100T>C (p.Ile367Thr) c.-69+2641T>C (n.-69+2641T>C) | dbSNP gnomAD v4 |
10 | g.49611840T>G | CA376722046 | CHAT,SLC18A3 | c.1100T>G (p.Ile367Ser) c.-69+2641T>G (n.-69+2641T>G) | |
10 | g.49611841C>A | CA469791442 | CHAT,SLC18A3 | c.1101C>A (p.Ile367=) c.-69+2642C>A (n.-69+2642C>A) | |
10 | g.49611841C>G | CA376722047 | CHAT,SLC18A3 | c.1101C>G (p.Ile367Met) c.-69+2642C>G (n.-69+2642C>G) | |
10 | g.49611841C>T | CA469791443 | CHAT,SLC18A3 | c.1101C>T (p.Ile367=) c.-69+2642C>T (n.-69+2642C>T) | ClinVar dbSNP gnomAD v4 |
10 | g.49611842G>A | CA376722048 | CHAT,SLC18A3 | c.1102G>A (p.Gly368Ser) c.-69+2643G>A (n.-69+2643G>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
10 | g.49611842G>C | CA376722049 | CHAT,SLC18A3 | c.1102G>C (p.Gly368Arg) c.-69+2643G>C (n.-69+2643G>C) | gnomAD v4 |
10 | g.49611842G= | CA1908794840 | CHAT,SLC18A3 | c.1102G= (p.Gly368=) c.-69+2643G= (n.-69+2643G=) | |
10 | g.49611842G>T | CA376722050 | CHAT,SLC18A3 | c.1102G>T (p.Gly368Cys) c.-69+2643G>T (n.-69+2643G>T) | gnomAD v4 |
10 | g.49611843G>A | CA376722053 | CHAT,SLC18A3 | c.1103G>A (p.Gly368Asp) c.-69+2644G>A (n.-69+2644G>A) | |
10 | g.49611843G>C | CA376722051 | CHAT,SLC18A3 | c.1103G>C (p.Gly368Ala) c.-69+2644G>C (n.-69+2644G>C) | |
10 | g.49611843G>T | CA376722052 | CHAT,SLC18A3 | c.1103G>T (p.Gly368Val) c.-69+2644G>T (n.-69+2644G>T) | gnomAD v4 |
10 | g.49611843_49611844insGGCTGGCTGTGAT | CA2609117158 | CHAT,SLC18A3 | c.1103_1104insGGCTGGCTGTGAT (p.Ser370GlyfsTer?) c.-69+2644_-69+2645insGGCTGGCTGTGAT (n.-69+2644_-69+2645insGGCTGGCTGTGAT) | gnomAD v4 |
10 | g.49611844C>A | CA469791446 | CHAT,SLC18A3 | c.1104C>A (p.Gly368=) c.-69+2645C>A (n.-69+2645C>A) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.49611844C= | CA1908794843 | CHAT,SLC18A3 | c.1104C= (p.Gly368=) c.-69+2645C= (n.-69+2645C=) | |
10 | g.49611844C>G | CA469791448 | CHAT,SLC18A3 | c.1104C>G (p.Gly368=) c.-69+2645C>G (n.-69+2645C>G) | |
10 | g.49611844C>T | CA469791444 | CHAT,SLC18A3 | c.1104C>T (p.Gly368=) c.-69+2645C>T (n.-69+2645C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
10 | g.49611845G>A | CA376722054 | CHAT,SLC18A3 | c.1105G>A (p.Ala369Thr) c.-69+2646G>A (n.-69+2646G>A) | gnomAD v4 |
10 | g.49611845G>C | CA376722055 | CHAT,SLC18A3 | c.1105G>C (p.Ala369Pro) c.-69+2646G>C (n.-69+2646G>C) | |
10 | g.49611845G>T | CA376722056 | CHAT,SLC18A3 | c.1105G>T (p.Ala369Ser) c.-69+2646G>T (n.-69+2646G>T) | gnomAD v4 |
10 | g.49611845_49611846insGCC | CA2609117183 | CHAT,SLC18A3 | c.1105_1106insGCC (p.Ala369delinsGlyPro) c.-69+2646_-69+2647insGCC (n.-69+2646_-69+2647insGCC) | gnomAD v4 |
10 | g.49611846C>A | CA376722057 | CHAT,SLC18A3 | c.1106C>A (p.Ala369Asp) c.-69+2647C>A (n.-69+2647C>A) | |
10 | g.49611846C>G | CA376722058 | CHAT,SLC18A3 | c.1106C>G (p.Ala369Gly) c.-69+2647C>G (n.-69+2647C>G) | |
10 | g.49611846C>T | CA376722059 | CHAT,SLC18A3 | c.1106C>T (p.Ala369Val) c.-69+2647C>T (n.-69+2647C>T) | |
10 | g.49611847C>A | CA469791449 | CHAT,SLC18A3 | c.1107C>A (p.Ala369=) c.-69+2648C>A (n.-69+2648C>A) | |
10 | g.49611847C= | CA1908794847 | CHAT,SLC18A3 | c.1107C= (p.Ala369=) c.-69+2648C= (n.-69+2648C=) | |
10 | g.49611847C>G | CA469791454 | CHAT,SLC18A3 | c.1107C>G (p.Ala369=) c.-69+2648C>G (n.-69+2648C>G) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.49611847C>T | CA469791452 | CHAT,SLC18A3 | c.1107C>T (p.Ala369=) c.-69+2648C>T (n.-69+2648C>T) | |
10 | g.49611848A= | CA1908794854 | CHAT,SLC18A3 | c.1108A= (p.Ser370=) c.-69+2649A= (n.-69+2649A=) | |
10 | g.49611848A>C | CA376722060 | CHAT,SLC18A3 | c.1108A>C (p.Ser370Arg) c.-69+2649A>C (n.-69+2649A>C) | |
10 | g.49611848A>G | CA376722061 | CHAT,SLC18A3 | c.1108A>G (p.Ser370Gly) c.-69+2649A>G (n.-69+2649A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.49611848A>T | CA376722062 | CHAT,SLC18A3 | c.1108A>T (p.Ser370Cys) c.-69+2649A>T (n.-69+2649A>T) | |
10 | g.49611849G>A | CA5496902 | CHAT,SLC18A3 | c.1109G>A (p.Ser370Asn) c.-69+2650G>A (n.-69+2650G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.49611849G>C | CA376722063 | CHAT,SLC18A3 | c.1109G>C (p.Ser370Thr) c.-69+2650G>C (n.-69+2650G>C) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.49611849G= | CA1908794861 | CHAT,SLC18A3 | c.1109G= (p.Ser370=) c.-69+2650G= (n.-69+2650G=) | |
10 | g.49611849G>T | CA376722064 | CHAT,SLC18A3 | c.1109G>T (p.Ser370Ile) c.-69+2650G>T (n.-69+2650G>T) | ClinVar dbSNP gnomAD v4 |
10 | g.49611850C>A | CA376722066 | CHAT,SLC18A3 | c.1110C>A (p.Ser370Arg) c.-69+2651C>A (n.-69+2651C>A) | gnomAD v4 |
10 | g.49611850C>G | CA376722065 | CHAT,SLC18A3 | c.1110C>G (p.Ser370Arg) c.-69+2651C>G (n.-69+2651C>G) | gnomAD v4 |
10 | g.49611850C>T | CA469791459 | CHAT,SLC18A3 | c.1110C>T (p.Ser370=) c.-69+2651C>T (n.-69+2651C>T) | gnomAD v4 |
10 | g.49611851T>A | CA376722067 | CHAT,SLC18A3 | c.1111T>A (p.Ser371Thr) c.-69+2652T>A (n.-69+2652T>A) | |
10 | g.49611851T>C | CA376722069 | CHAT,SLC18A3 | c.1111T>C (p.Ser371Pro) c.-69+2652T>C (n.-69+2652T>C) | |
10 | g.49611851T>G | CA376722068 | CHAT,SLC18A3 | c.1111T>G (p.Ser371Ala) c.-69+2652T>G (n.-69+2652T>G) | gnomAD v4 |
10 | g.49611852C>A | CA376722070 | CHAT,SLC18A3 | c.1112C>A (p.Ser371Ter) c.-69+2653C>A (n.-69+2653C>A) | gnomAD v4 |
10 | g.49611852C>G | CA376722072 | CHAT,SLC18A3 | c.1112C>G (p.Ser371Trp) c.-69+2653C>G (n.-69+2653C>G) | gnomAD v4 |
10 | g.49611852C>T | CA376722071 | CHAT,SLC18A3 | c.1112C>T (p.Ser371Leu) c.-69+2653C>T (n.-69+2653C>T) | |
10 | g.49611853G>A | CA469791470 | CHAT,SLC18A3 | c.1113G>A (p.Ser371=) c.-69+2654G>A (n.-69+2654G>A) | |
10 | g.49611853G>C | CA469791467 | CHAT,SLC18A3 | c.1113G>C (p.Ser371=) c.-69+2654G>C (n.-69+2654G>C) | gnomAD v4 |
10 | g.49611853G= | CA1908794865 | CHAT,SLC18A3 | c.1113G= (p.Ser371=) c.-69+2654G= (n.-69+2654G=) | |
10 | g.49611853G>T | CA469791468 | CHAT,SLC18A3 | c.1113G>T (p.Ser371=) c.-69+2654G>T (n.-69+2654G>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
10 | g.49611854T>A | CA376722073 | CHAT,SLC18A3 | c.1114T>A (p.Cys372Ser) c.-69+2655T>A (n.-69+2655T>A) | |
10 | g.49611854T>C | CA376722074 | CHAT,SLC18A3 | c.1114T>C (p.Cys372Arg) c.-69+2655T>C (n.-69+2655T>C) | dbSNP |
10 | g.49611854T>G | CA376722075 | CHAT,SLC18A3 | c.1114T>G (p.Cys372Gly) c.-69+2655T>G (n.-69+2655T>G) | dbSNP gnomAD v2 |
10 | g.49611854T= | CA1908794869 | CHAT,SLC18A3 | c.1114T= (p.Cys372=) c.-69+2655T= (n.-69+2655T=) | |
10 | g.49611855G>A | CA376722076 | CHAT,SLC18A3 | c.1115G>A (p.Cys372Tyr) c.-69+2656G>A (n.-69+2656G>A) | |
10 | g.49611855G>C | CA376722077 | CHAT,SLC18A3 | c.1115G>C (p.Cys372Ser) c.-69+2656G>C (n.-69+2656G>C) | |
10 | g.49611855G>T | CA376722078 | CHAT,SLC18A3 | c.1115G>T (p.Cys372Phe) c.-69+2656G>T (n.-69+2656G>T) | gnomAD v4 |
10 | g.49611856C>A | CA5496903 | CHAT,SLC18A3 | c.1116C>A (p.Cys372Ter) c.-69+2657C>A (n.-69+2657C>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.49611856C= | CA1908794875 | CHAT,SLC18A3 | c.1116C= (p.Cys372=) c.-69+2657C= (n.-69+2657C=) | |
10 | g.49611856C>G | CA376722079 | CHAT,SLC18A3 | c.1116C>G (p.Cys372Trp) c.-69+2657C>G (n.-69+2657C>G) | dbSNP gnomAD v4 |
10 | g.49611856C>T | CA469791476 | CHAT,SLC18A3 | c.1116C>T (p.Cys372=) c.-69+2657C>T (n.-69+2657C>T) | gnomAD v4 |
10 | g.49611857A>C | CA376722080 | CHAT,SLC18A3 | c.1117A>C (p.Ile373Leu) c.-69+2658A>C (n.-69+2658A>C) | |
10 | g.49611857A>G | CA376722081 | CHAT,SLC18A3 | c.1117A>G (p.Ile373Val) c.-69+2658A>G (n.-69+2658A>G) | gnomAD v4 |
10 | g.49611857A>T | CA376722082 | CHAT,SLC18A3 | c.1117A>T (p.Ile373Phe) c.-69+2658A>T (n.-69+2658A>T) | |
10 | g.49611858T>A | CA376722085 | CHAT,SLC18A3 | c.1118T>A (p.Ile373Asn) c.-69+2659T>A (n.-69+2659T>A) | |
10 | g.49611858T>C | CA376722083 | CHAT,SLC18A3 | c.1118T>C (p.Ile373Thr) c.-69+2659T>C (n.-69+2659T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.49611858T>G | CA376722084 | CHAT,SLC18A3 | c.1118T>G (p.Ile373Ser) c.-69+2659T>G (n.-69+2659T>G) | |
10 | g.49611858T= | CA1908794877 | CHAT,SLC18A3 | c.1118T= (p.Ile373=) c.-69+2659T= (n.-69+2659T=) | |
10 | g.49611859C>A | CA469791483 | CHAT,SLC18A3 | c.1119C>A (p.Ile373=) c.-69+2660C>A (n.-69+2660C>A) | |
10 | g.49611859C>G | CA376722086 | CHAT,SLC18A3 | c.1119C>G (p.Ile373Met) c.-69+2660C>G (n.-69+2660C>G) | |
10 | g.49611859C>T | CA469791481 | CHAT,SLC18A3 | c.1119C>T (p.Ile373=) c.-69+2660C>T (n.-69+2660C>T) | gnomAD v4 |
10 | g.49611860G>A | CA5496905 | CHAT,SLC18A3 | c.1120G>A (p.Val374Met) c.-69+2661G>A (n.-69+2661G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.49611860G>C | CA5496904 | CHAT,SLC18A3 | c.1120G>C (p.Val374Leu) c.-69+2661G>C (n.-69+2661G>C) | dbSNP ExAC gnomAD v4 |
10 | g.49611860G= | CA1908794881 | CHAT,SLC18A3 | c.1120G= (p.Val374=) c.-69+2661G= (n.-69+2661G=) | |
10 | g.49611860G>T | CA376722087 | CHAT,SLC18A3 | c.1120G>T (p.Val374Leu) c.-69+2661G>T (n.-69+2661G>T) | gnomAD v4 |
10 | g.49611861T>A | CA376722088 | CHAT,SLC18A3 | c.1121T>A (p.Val374Glu) c.-69+2662T>A (n.-69+2662T>A) | |
10 | g.49611861T>C | CA376722089 | CHAT,SLC18A3 | c.1121T>C (p.Val374Ala) c.-69+2662T>C (n.-69+2662T>C) | |
10 | g.49611861T>G | CA376722090 | CHAT,SLC18A3 | c.1121T>G (p.Val374Gly) c.-69+2662T>G (n.-69+2662T>G) | |
10 | g.49611862G>A | CA469791503 | CHAT,SLC18A3 | c.1122G>A (p.Val374=) c.-69+2663G>A (n.-69+2663G>A) | |
10 | g.49611862G>C | CA206621402 | CHAT,SLC18A3 | c.1122G>C (p.Val374=) c.-69+2663G>C (n.-69+2663G>C) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
10 | g.49611862G= | CA1908794886 | CHAT,SLC18A3 | c.1122G= (p.Val374=) c.-69+2663G= (n.-69+2663G=) | |
10 | g.49611862G>T | CA206621403 | CHAT,SLC18A3 | c.1122G>T (p.Val374=) c.-69+2663G>T (n.-69+2663G>T) | dbSNP gnomAD v4 |
10 | g.49611863C>A | CA376722091 | CHAT,SLC18A3 | c.1123C>A (p.Pro375Thr) c.-69+2664C>A (n.-69+2664C>A) | gnomAD v4 |
10 | g.49611863C>G | CA376722092 | CHAT,SLC18A3 | c.1123C>G (p.Pro375Ala) c.-69+2664C>G (n.-69+2664C>G) | |
10 | g.49611863C>T | CA376722093 | CHAT,SLC18A3 | c.1123C>T (p.Pro375Ser) c.-69+2664C>T (n.-69+2664C>T) | gnomAD v4 |
10 | g.49611864C>A | CA376722096 | CHAT,SLC18A3 | c.1124C>A (p.Pro375His) c.-69+2665C>A (n.-69+2665C>A) | gnomAD v4 |
10 | g.49611864C>G | CA376722095 | CHAT,SLC18A3 | c.1124C>G (p.Pro375Arg) c.-69+2665C>G (n.-69+2665C>G) | |
10 | g.49611864C>T | CA376722094 | CHAT,SLC18A3 | c.1124C>T (p.Pro375Leu) c.-69+2665C>T (n.-69+2665C>T) | |
10 | g.49611865C>A | CA469791508 | CHAT,SLC18A3 | c.1125C>A (p.Pro375=) c.-69+2666C>A (n.-69+2666C>A) | gnomAD v4 |
10 | g.49611865C= | CA1908794892 | CHAT,SLC18A3 | c.1125C= (p.Pro375=) c.-69+2666C= (n.-69+2666C=) | |
10 | g.49611865C>G | CA5496906 | CHAT,SLC18A3 | c.1125C>G (p.Pro375=) c.-69+2666C>G (n.-69+2666C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.49611865C>T | CA469791511 | CHAT,SLC18A3 | c.1125C>T (p.Pro375=) c.-69+2666C>T (n.-69+2666C>T) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.49611866del | CA2609117250 | CHAT,SLC18A3 | c.1126del (p.Ala376ProfsTer8) c.-69+2667del (n.-69+2667del) | gnomAD v4 |
10 | g.49611866G>A | CA5496908 | CHAT,SLC18A3 | c.1126G>A (p.Ala376Thr) c.-69+2667G>A (n.-69+2667G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.49611866G>C | CA5496907 | CHAT,SLC18A3 | c.1126G>C (p.Ala376Pro) c.-69+2667G>C (n.-69+2667G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.49611866G= | CA1908794900 | CHAT,SLC18A3 | c.1126G= (p.Ala376=) c.-69+2667G= (n.-69+2667G=) | |
10 | g.49611866G>T | CA5496909 | CHAT,SLC18A3 | c.1126G>T (p.Ala376Ser) c.-69+2667G>T (n.-69+2667G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.49611867C>A | CA376722097 | CHAT,SLC18A3 | c.1127C>A (p.Ala376Asp) c.-69+2668C>A (n.-69+2668C>A) | gnomAD v4 |
10 | g.49611867C>G | CA376722098 | CHAT,SLC18A3 | c.1127C>G (p.Ala376Gly) c.-69+2668C>G (n.-69+2668C>G) | |
10 | g.49611867C>T | CA376722099 | CHAT,SLC18A3 | c.1127C>T (p.Ala376Val) c.-69+2668C>T (n.-69+2668C>T) | COSMIC |
10 | g.49611868C>A | CA469791516 | CHAT,SLC18A3 | c.1128C>A (p.Ala376=) c.-69+2669C>A (n.-69+2669C>A) | |
10 | g.49611868C>G | CA469791518 | CHAT,SLC18A3 | c.1128C>G (p.Ala376=) c.-69+2669C>G (n.-69+2669C>G) | |
10 | g.49611868C>T | CA469791517 | CHAT,SLC18A3 | c.1128C>T (p.Ala376=) c.-69+2669C>T (n.-69+2669C>T) | |
10 | g.49611869T>A | CA376722100 | CHAT,SLC18A3 | c.1129T>A (p.Cys377Ser) c.-69+2670T>A (n.-69+2670T>A) | dbSNP |
10 | g.49611869T>C | CA376722101 | CHAT,SLC18A3 | c.1129T>C (p.Cys377Arg) c.-69+2670T>C (n.-69+2670T>C) | |
10 | g.49611869T>G | CA376722102 | CHAT,SLC18A3 | c.1129T>G (p.Cys377Gly) c.-69+2670T>G (n.-69+2670T>G) | |
10 | g.49611869T= | CA1908794907 | CHAT,SLC18A3 | c.1129T= (p.Cys377=) c.-69+2670T= (n.-69+2670T=) | |
10 | g.49611870G>A | CA376722103 | CHAT,SLC18A3 | c.1130G>A (p.Cys377Tyr) c.-69+2671G>A (n.-69+2671G>A) | |
10 | g.49611870G>C | CA376722104 | CHAT,SLC18A3 | c.1130G>C (p.Cys377Ser) c.-69+2671G>C (n.-69+2671G>C) | |
10 | g.49611870G>T | CA376722105 | CHAT,SLC18A3 | c.1130G>T (p.Cys377Phe) c.-69+2671G>T (n.-69+2671G>T) | |
10 | g.49611871C>A | CA376722106 | CHAT,SLC18A3 | c.1131C>A (p.Cys377Ter) c.-69+2672C>A (n.-69+2672C>A) | |
10 | g.49611871C= | CA1908794909 | CHAT,SLC18A3 | c.1131C= (p.Cys377=) c.-69+2672C= (n.-69+2672C=) | |
10 | g.49611871C>G | CA376722107 | CHAT,SLC18A3 | c.1131C>G (p.Cys377Trp) c.-69+2672C>G (n.-69+2672C>G) | |
10 | g.49611871C>T | CA469791522 | CHAT,SLC18A3 | c.1131C>T (p.Cys377=) c.-69+2672C>T (n.-69+2672C>T) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.49611872C>A | CA376722108 | CHAT,SLC18A3 | c.1132C>A (p.Arg378Ser) c.-69+2673C>A (n.-69+2673C>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
10 | g.49611872C= | CA1908794914 | CHAT,SLC18A3 | c.1132C= (p.Arg378=) c.-69+2673C= (n.-69+2673C=) | |
10 | g.49611872C>G | CA376722109 | CHAT,SLC18A3 | c.1132C>G (p.Arg378Gly) c.-69+2673C>G (n.-69+2673C>G) | |
10 | g.49611872C>T | CA376722110 | CHAT,SLC18A3 | c.1132C>T (p.Arg378Cys) c.-69+2673C>T (n.-69+2673C>T) | |
10 | g.49611873G>A | CA376722111 | CHAT,SLC18A3 | c.1133G>A (p.Arg378His) c.-69+2674G>A (n.-69+2674G>A) | dbSNP gnomAD v4 |
10 | g.49611873G>C | CA376722112 | CHAT,SLC18A3 | c.1133G>C (p.Arg378Pro) c.-69+2674G>C (n.-69+2674G>C) | |
10 | g.49611873G= | CA1908794917 | CHAT,SLC18A3 | c.1133G= (p.Arg378=) c.-69+2674G= (n.-69+2674G=) | |
10 | g.49611873G>T | CA376722113 | CHAT,SLC18A3 | c.1133G>T (p.Arg378Leu) c.-69+2674G>T (n.-69+2674G>T) | gnomAD v4 |
10 | g.49611874C>A | CA469791535 | CHAT,SLC18A3 | c.1134C>A (p.Arg378=) c.-69+2675C>A (n.-69+2675C>A) | |
10 | g.49611874C= | CA1908794920 | CHAT,SLC18A3 | c.1134C= (p.Arg378=) c.-69+2675C= (n.-69+2675C=) | |
10 | g.49611874C>G | CA469791538 | CHAT,SLC18A3 | c.1134C>G (p.Arg378=) c.-69+2675C>G (n.-69+2675C>G) | |
10 | g.49611874C>T | CA469791536 | CHAT,SLC18A3 | c.1134C>T (p.Arg378=) c.-69+2675C>T (n.-69+2675C>T) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.49611875T>A | CA376722114 | CHAT,SLC18A3 | c.1135T>A (p.Ser379Thr) c.-69+2676T>A (n.-69+2676T>A) | |
10 | g.49611875T>C | CA376722115 | CHAT,SLC18A3 | c.1135T>C (p.Ser379Pro) c.-69+2676T>C (n.-69+2676T>C) | |
10 | g.49611875T>G | CA376722116 | CHAT,SLC18A3 | c.1135T>G (p.Ser379Ala) c.-69+2676T>G (n.-69+2676T>G) | |
10 | g.49611876C>A | CA376722117 | CHAT,SLC18A3 | c.1136C>A (p.Ser379Tyr) c.-69+2677C>A (n.-69+2677C>A) | |
10 | g.49611876C>G | CA376722118 | CHAT,SLC18A3 | c.1136C>G (p.Ser379Cys) c.-69+2677C>G (n.-69+2677C>G) | |
10 | g.49611876C>T | CA376722119 | CHAT,SLC18A3 | c.1136C>T (p.Ser379Phe) c.-69+2677C>T (n.-69+2677C>T) | gnomAD v4 |
10 | g.49611877C>A | CA469791551 | CHAT,SLC18A3 | c.1137C>A (p.Ser379=) c.-69+2678C>A (n.-69+2678C>A) | |
10 | g.49611877C>G | CA469791550 | CHAT,SLC18A3 | c.1137C>G (p.Ser379=) c.-69+2678C>G (n.-69+2678C>G) | |
10 | g.49611877C>T | CA469791549 | CHAT,SLC18A3 | c.1137C>T (p.Ser379=) c.-69+2678C>T (n.-69+2678C>T) | |
10 | g.49611878T>A | CA376722121 | CHAT,SLC18A3 | c.1138T>A (p.Phe380Ile) c.-69+2679T>A (n.-69+2679T>A) | |
10 | g.49611878T>C | CA376722122 | CHAT,SLC18A3 | c.1138T>C (p.Phe380Leu) c.-69+2679T>C (n.-69+2679T>C) | |
10 | g.49611878T>G | CA376722120 | CHAT,SLC18A3 | c.1138T>G (p.Phe380Val) c.-69+2679T>G (n.-69+2679T>G) | |
10 | g.49611879T>A | CA376722123 | CHAT,SLC18A3 | c.1139T>A (p.Phe380Tyr) c.-69+2680T>A (n.-69+2680T>A) | |
10 | g.49611879T>C | CA376722124 | CHAT,SLC18A3 | c.1139T>C (p.Phe380Ser) c.-69+2680T>C (n.-69+2680T>C) | |
10 | g.49611879T>G | CA376722125 | CHAT,SLC18A3 | c.1139T>G (p.Phe380Cys) c.-69+2680T>G (n.-69+2680T>G) | |
10 | g.49611880C>A | CA376722126 | CHAT,SLC18A3 | c.1140C>A (p.Phe380Leu) c.-69+2681C>A (n.-69+2681C>A) | |
10 | g.49611880C>G | CA376722127 | CHAT,SLC18A3 | c.1140C>G (p.Phe380Leu) c.-69+2681C>G (n.-69+2681C>G) | |
10 | g.49611880C>T | CA469791563 | CHAT,SLC18A3 | c.1140C>T (p.Phe380=) c.-69+2681C>T (n.-69+2681C>T) | gnomAD v4 COSMIC |
10 | g.49611881G>A | CA376722130 | CHAT,SLC18A3 | c.1141G>A (p.Ala381Thr) c.-69+2682G>A (n.-69+2682G>A) | |
10 | g.49611881G>C | CA376722129 | CHAT,SLC18A3 | c.1141G>C (p.Ala381Pro) c.-69+2682G>C (n.-69+2682G>C) | dbSNP |
10 | g.49611881G= | CA1908794925 | CHAT,SLC18A3 | c.1141G= (p.Ala381=) c.-69+2682G= (n.-69+2682G=) | |
10 | g.49611881G>T | CA376722128 | CHAT,SLC18A3 | c.1141G>T (p.Ala381Ser) c.-69+2682G>T (n.-69+2682G>T) | gnomAD v4 |
10 | g.49611882del | CA645559476 | CHAT,SLC18A3 | c.1142del (p.Ala381GlyfsTer3) c.-69+2683del (n.-69+2683del) | COSMIC |
10 | g.49611882C>A | CA376722131 | CHAT,SLC18A3 | c.1142C>A (p.Ala381Glu) c.-69+2683C>A (n.-69+2683C>A) | |
10 | g.49611882C>G | CA376722132 | CHAT,SLC18A3 | c.1142C>G (p.Ala381Gly) c.-69+2683C>G (n.-69+2683C>G) | |
10 | g.49611882C>T | CA376722133 | CHAT,SLC18A3 | c.1142C>T (p.Ala381Val) c.-69+2683C>T (n.-69+2683C>T) | |
10 | g.49611883G>A | CA469791572 | CHAT,SLC18A3 | c.1143G>A (p.Ala381=) c.-69+2684G>A (n.-69+2684G>A) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.49611883G>C | CA469791574 | CHAT,SLC18A3 | c.1143G>C (p.Ala381=) c.-69+2684G>C (n.-69+2684G>C) | gnomAD v4 |
10 | g.49611883G= | CA1908794930 | CHAT,SLC18A3 | c.1143G= (p.Ala381=) c.-69+2684G= (n.-69+2684G=) | |
10 | g.49611883G>T | CA5496910 | CHAT,SLC18A3 | c.1143G>T (p.Ala381=) c.-69+2684G>T (n.-69+2684G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.49611884C>A | CA376722134 | CHAT,SLC18A3 | c.1144C>A (p.Pro382Thr) c.-69+2685C>A (n.-69+2685C>A) | |
10 | g.49611884C>G | CA376722135 | CHAT,SLC18A3 | c.1144C>G (p.Pro382Ala) c.-69+2685C>G (n.-69+2685C>G) | |
10 | g.49611884C>T | CA376722136 | CHAT,SLC18A3 | c.1144C>T (p.Pro382Ser) c.-69+2685C>T (n.-69+2685C>T) | |
10 | g.49611885C>A | CA376722137 | CHAT,SLC18A3 | c.1145C>A (p.Pro382Gln) c.-69+2686C>A (n.-69+2686C>A) | |
10 | g.49611885C>G | CA376722139 | CHAT,SLC18A3 | c.1145C>G (p.Pro382Arg) c.-69+2686C>G (n.-69+2686C>G) | |
10 | g.49611885C>T | CA376722138 | CHAT,SLC18A3 | c.1145C>T (p.Pro382Leu) c.-69+2686C>T (n.-69+2686C>T) | gnomAD v4 COSMIC |
10 | g.49611886G>A | CA469791581 | CHAT,SLC18A3 | c.1146G>A (p.Pro382=) c.-69+2687G>A (n.-69+2687G>A) | gnomAD v4 |
10 | g.49611886G>C | CA469791578 | CHAT,SLC18A3 | c.1146G>C (p.Pro382=) c.-69+2687G>C (n.-69+2687G>C) | gnomAD v4 |
10 | g.49611886G>T | CA469791579 | CHAT,SLC18A3 | c.1146G>T (p.Pro382=) c.-69+2687G>T (n.-69+2687G>T) | gnomAD v4 |
10 | g.49611887C>A | CA376722140 | CHAT,SLC18A3 | c.1147C>A (p.Leu383Ile) c.-69+2688C>A (n.-69+2688C>A) | |
10 | g.49611887C>G | CA376722141 | CHAT,SLC18A3 | c.1147C>G (p.Leu383Val) c.-69+2688C>G (n.-69+2688C>G) | |
10 | g.49611887C>T | CA469791582 | CHAT,SLC18A3 | c.1147C>T (p.Leu383=) c.-69+2688C>T (n.-69+2688C>T) | gnomAD v4 |
10 | g.49611888T>A | CA376722142 | CHAT,SLC18A3 | c.1148T>A (p.Leu383Gln) c.-69+2689T>A (n.-69+2689T>A) | |
10 | g.49611888T>C | CA376722143 | CHAT,SLC18A3 | c.1148T>C (p.Leu383Pro) c.-69+2689T>C (n.-69+2689T>C) | |
10 | g.49611888T>G | CA376722144 | CHAT,SLC18A3 | c.1148T>G (p.Leu383Arg) c.-69+2689T>G (n.-69+2689T>G) | gnomAD v4 |
10 | g.49611889A= | CA1908794938 | CHAT,SLC18A3 | c.1149A= (p.Leu383=) c.-69+2690A= (n.-69+2690A=) | |
10 | g.49611889A>C | CA469791589 | CHAT,SLC18A3 | c.1149A>C (p.Leu383=) c.-69+2690A>C (n.-69+2690A>C) | |
10 | g.49611889A>G | CA5496911 | CHAT,SLC18A3 | c.1149A>G (p.Leu383=) c.-69+2690A>G (n.-69+2690A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.49611889A>T | CA469791588 | CHAT,SLC18A3 | c.1149A>T (p.Leu383=) c.-69+2690A>T (n.-69+2690A>T) | COSMIC |
10 | g.49611890G>A | CA376722145 | CHAT,SLC18A3 | c.1150G>A (p.Val384Met) c.-69+2691G>A (n.-69+2691G>A) | |
10 | g.49611890G>C | CA376722146 | CHAT,SLC18A3 | c.1150G>C (p.Val384Leu) c.-69+2691G>C (n.-69+2691G>C) | |
10 | g.49611890G= | CA1908794941 | CHAT,SLC18A3 | c.1150G= (p.Val384=) c.-69+2691G= (n.-69+2691G=) | |
10 | g.49611890G>T | CA376722147 | CHAT,SLC18A3 | c.1150G>T (p.Val384Leu) c.-69+2691G>T (n.-69+2691G>T) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.49611891T>A | CA376722148 | CHAT,SLC18A3 | c.1151T>A (p.Val384Glu) c.-69+2692T>A (n.-69+2692T>A) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.49611891T>C | CA376722149 | CHAT,SLC18A3 | c.1151T>C (p.Val384Ala) c.-69+2692T>C (n.-69+2692T>C) | |
10 | g.49611891T>G | CA376722150 | CHAT,SLC18A3 | c.1151T>G (p.Val384Gly) c.-69+2692T>G (n.-69+2692T>G) | |
10 | g.49611891T= | CA1908794950 | CHAT,SLC18A3 | c.1151T= (p.Val384=) c.-69+2692T= (n.-69+2692T=) | |
10 | g.49611892G>A | CA469791599 | CHAT,SLC18A3 | c.1152G>A (p.Val384=) c.-69+2693G>A (n.-69+2693G>A) | |
10 | g.49611892G>C | CA469791600 | CHAT,SLC18A3 | c.1152G>C (p.Val384=) c.-69+2693G>C (n.-69+2693G>C) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.49611892G= | CA1908794957 | CHAT,SLC18A3 | c.1152G= (p.Val384=) c.-69+2693G= (n.-69+2693G=) | |
10 | g.49611892G>T | CA469791592 | CHAT,SLC18A3 | c.1152G>T (p.Val384=) c.-69+2693G>T (n.-69+2693G>T) | gnomAD v4 |