Chr Mutation (hg38) CAid Gene Transcript Linkouts
10g.49611896T>ACA376722157CHAT,SLC18A3c.1156T>A (p.Ser386Thr)
c.-69+2697T>A (n.-69+2697T>A)
10g.49611896T>CCA376722158CHAT,SLC18A3c.1156T>C (p.Ser386Pro)
c.-69+2697T>C (n.-69+2697T>C)
10g.49611896T>GCA376722159CHAT,SLC18A3c.1156T>G (p.Ser386Ala)
c.-69+2697T>G (n.-69+2697T>G)
10g.49611897C>ACA376722160CHAT,SLC18A3c.1157C>A (p.Ser386Ter)
c.-69+2698C>A (n.-69+2698C>A)
10g.49611897C=CA1908794972CHAT,SLC18A3c.1157C= (p.Ser386=)
c.-69+2698C= (n.-69+2698C=)
10g.49611897C>GCA376722161CHAT,SLC18A3c.1157C>G (p.Ser386Ter)
c.-69+2698C>G (n.-69+2698C>G)
10g.49611897C>TCA206621423CHAT,SLC18A3c.1157C>T (p.Ser386Leu)
c.-69+2698C>T (n.-69+2698C>T)
 dbSNP gnomAD v2 gnomAD v4
10g.49611898A>CCA469791620CHAT,SLC18A3c.1158A>C (p.Ser386=)
c.-69+2699A>C (n.-69+2699A>C)
10g.49611898A>GCA469791621CHAT,SLC18A3c.1158A>G (p.Ser386=)
c.-69+2699A>G (n.-69+2699A>G)
10g.49611898A>TCA469791622CHAT,SLC18A3c.1158A>T (p.Ser386=)
c.-69+2699A>T (n.-69+2699A>T)
10g.49611898_49611899delinsACCA1908794976CHAT,SLC18A3c.1158_1159delinsAC (p.Ser386=)
c.-69+2699_-69+2700delinsAC (n.-69+2699_-69+2700delinsAC)
10g.49611899delCA5496913CHAT,SLC18A3c.1159del (p.Leu387TyrfsTer8)
c.-69+2700del (n.-69+2700del)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.49611899C>ACA376722162CHAT,SLC18A3c.1159C>A (p.Leu387Ile)
c.-69+2700C>A (n.-69+2700C>A)
 gnomAD v4
10g.49611899C>GCA376722163CHAT,SLC18A3c.1159C>G (p.Leu387Val)
c.-69+2700C>G (n.-69+2700C>G)
 gnomAD v4
10g.49611899C>TCA469791624CHAT,SLC18A3c.1159C>T (p.Leu387=)
c.-69+2700C>T (n.-69+2700C>T)
10g.49611900T>ACA376722166CHAT,SLC18A3c.1160T>A (p.Leu387Gln)
c.-69+2701T>A (n.-69+2701T>A)
10g.49611900T>CCA376722164CHAT,SLC18A3c.1160T>C (p.Leu387Pro)
c.-69+2701T>C (n.-69+2701T>C)
 gnomAD v4
10g.49611900T>GCA376722165CHAT,SLC18A3c.1160T>G (p.Leu387Arg)
c.-69+2701T>G (n.-69+2701T>G)
10g.49611901A=CA1908794982CHAT,SLC18A3c.1161A= (p.Leu387=)
c.-69+2702A= (n.-69+2702A=)
10g.49611901A>CCA469791627CHAT,SLC18A3c.1161A>C (p.Leu387=)
c.-69+2702A>C (n.-69+2702A>C)
 gnomAD v4
10g.49611901A>GCA469791628CHAT,SLC18A3c.1161A>G (p.Leu387=)
c.-69+2702A>G (n.-69+2702A>G)
 dbSNP gnomAD v2 gnomAD v4
10g.49611901A>TCA469791629CHAT,SLC18A3c.1161A>T (p.Leu387=)
c.-69+2702A>T (n.-69+2702A>T)
10g.49611902T>ACA376722167CHAT,SLC18A3c.1162T>A (p.Cys388Ser)
c.-69+2703T>A (n.-69+2703T>A)
10g.49611902T>CCA376722168CHAT,SLC18A3c.1162T>C (p.Cys388Arg)
c.-69+2703T>C (n.-69+2703T>C)
 dbSNP
10g.49611902T>GCA376722169CHAT,SLC18A3c.1162T>G (p.Cys388Gly)
c.-69+2703T>G (n.-69+2703T>G)
10g.49611902T=CA1908794987CHAT,SLC18A3c.1162T= (p.Cys388=)
c.-69+2703T= (n.-69+2703T=)
10g.49611903G>ACA376722170CHAT,SLC18A3c.1163G>A (p.Cys388Tyr)
c.-69+2704G>A (n.-69+2704G>A)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.49611903G>CCA376722171CHAT,SLC18A3c.1163G>C (p.Cys388Ser)
c.-69+2704G>C (n.-69+2704G>C)
10g.49611903G=CA1908794992CHAT,SLC18A3c.1163G= (p.Cys388=)
c.-69+2704G= (n.-69+2704G=)
10g.49611903G>TCA376722172CHAT,SLC18A3c.1163G>T (p.Cys388Phe)
c.-69+2704G>T (n.-69+2704G>T)
10g.49611904C>ACA376722173CHAT,SLC18A3c.1164C>A (p.Cys388Ter)
c.-69+2705C>A (n.-69+2705C>A)
 gnomAD v4
10g.49611904C=CA1908794996CHAT,SLC18A3c.1164C= (p.Cys388=)
c.-69+2705C= (n.-69+2705C=)
10g.49611904C>GCA376722174CHAT,SLC18A3c.1164C>G (p.Cys388Trp)
c.-69+2705C>G (n.-69+2705C>G)
10g.49611904C>TCA5496914CHAT,SLC18A3c.1164C>T (p.Cys388=)
c.-69+2705C>T (n.-69+2705C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
10g.49611905G>ACA376722175CHAT,SLC18A3c.1165G>A (p.Gly389Ser)
c.-69+2706G>A (n.-69+2706G>A)
10g.49611905G>CCA376722176CHAT,SLC18A3c.1165G>C (p.Gly389Arg)
c.-69+2706G>C (n.-69+2706G>C)
10g.49611905G>TCA376722177CHAT,SLC18A3c.1165G>T (p.Gly389Cys)
c.-69+2706G>T (n.-69+2706G>T)
10g.49611906G>ACA376722178CHAT,SLC18A3c.1166G>A (p.Gly389Asp)
c.-69+2707G>A (n.-69+2707G>A)
 gnomAD v4
10g.49611906G>CCA376722179CHAT,SLC18A3c.1166G>C (p.Gly389Ala)
c.-69+2707G>C (n.-69+2707G>C)
10g.49611906G=CA1908794998CHAT,SLC18A3c.1166G= (p.Gly389=)
c.-69+2707G= (n.-69+2707G=)
10g.49611906G>TCA5496915CHAT,SLC18A3c.1166G>T (p.Gly389Val)
c.-69+2707G>T (n.-69+2707G>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.49611907C>ACA469791642CHAT,SLC18A3c.1167C>A (p.Gly389=)
c.-69+2708C>A (n.-69+2708C>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.49611907C=CA1908795001CHAT,SLC18A3c.1167C= (p.Gly389=)
c.-69+2708C= (n.-69+2708C=)
10g.49611907C>GCA469791641CHAT,SLC18A3c.1167C>G (p.Gly389=)
c.-69+2708C>G (n.-69+2708C>G)
10g.49611907C>TCA469791639CHAT,SLC18A3c.1167C>T (p.Gly389=)
c.-69+2708C>T (n.-69+2708C>T)
 dbSNP
10g.49611908C>ACA376722180CHAT,SLC18A3c.1168C>A (p.Leu390Ile)
c.-69+2709C>A (n.-69+2709C>A)
10g.49611908C>GCA376722181CHAT,SLC18A3c.1168C>G (p.Leu390Val)
c.-69+2709C>G (n.-69+2709C>G)
10g.49611908C>TCA376722182CHAT,SLC18A3c.1168C>T (p.Leu390Phe)
c.-69+2709C>T (n.-69+2709C>T)
 gnomAD v4
10g.49611909T>ACA376722183CHAT,SLC18A3c.1169T>A (p.Leu390His)
c.-69+2710T>A (n.-69+2710T>A)
10g.49611909T>CCA376722184CHAT,SLC18A3c.1169T>C (p.Leu390Pro)
c.-69+2710T>C (n.-69+2710T>C)
 dbSNP gnomAD v3 gnomAD v4
10g.49611909T>GCA376722185CHAT,SLC18A3c.1169T>G (p.Leu390Arg)
c.-69+2710T>G (n.-69+2710T>G)
10g.49611909T=CA1908795004CHAT,SLC18A3c.1169T= (p.Leu390=)
c.-69+2710T= (n.-69+2710T=)
10g.49611910C>ACA469791649CHAT,SLC18A3c.1170C>A (p.Leu390=)
c.-69+2711C>A (n.-69+2711C>A)
10g.49611910C>GCA469791654CHAT,SLC18A3c.1170C>G (p.Leu390=)
c.-69+2711C>G (n.-69+2711C>G)
10g.49611910C>TCA469791651CHAT,SLC18A3c.1170C>T (p.Leu390=)
c.-69+2711C>T (n.-69+2711C>T)
10g.49611911T>ACA376722188CHAT,SLC18A3c.1171T>A (p.Cys391Ser)
c.-69+2712T>A (n.-69+2712T>A)
10g.49611911T>CCA376722186CHAT,SLC18A3c.1171T>C (p.Cys391Arg)
c.-69+2712T>C (n.-69+2712T>C)
10g.49611911T>GCA376722187CHAT,SLC18A3c.1171T>G (p.Cys391Gly)
c.-69+2712T>G (n.-69+2712T>G)
10g.49611912G>ACA376722189CHAT,SLC18A3c.1172G>A (p.Cys391Tyr)
c.-69+2713G>A (n.-69+2713G>A)
 dbSNP gnomAD v3 gnomAD v4
10g.49611912G>CCA376722190CHAT,SLC18A3c.1172G>C (p.Cys391Ser)
c.-69+2713G>C (n.-69+2713G>C)
10g.49611912G=CA1908795007CHAT,SLC18A3c.1172G= (p.Cys391=)
c.-69+2713G= (n.-69+2713G=)
10g.49611912G>TCA376722191CHAT,SLC18A3c.1172G>T (p.Cys391Phe)
c.-69+2713G>T (n.-69+2713G>T)
10g.49611913T>ACA376722192CHAT,SLC18A3c.1173T>A (p.Cys391Ter)
c.-69+2714T>A (n.-69+2714T>A)
10g.49611913T>CCA469791662CHAT,SLC18A3c.1173T>C (p.Cys391=)
c.-69+2714T>C (n.-69+2714T>C)
10g.49611913T>GCA376722193CHAT,SLC18A3c.1173T>G (p.Cys391Trp)
c.-69+2714T>G (n.-69+2714T>G)
10g.49611916delCA2609117365CHAT,SLC18A3c.1176del (p.Phe392LeufsTer3)
c.-69+2717del (n.-69+2717del)
 gnomAD v4
10g.49611914T>ACA376722196CHAT,SLC18A3c.1174T>A (p.Phe392Ile)
c.-69+2715T>A (n.-69+2715T>A)
10g.49611914T>CCA376722194CHAT,SLC18A3c.1174T>C (p.Phe392Leu)
c.-69+2715T>C (n.-69+2715T>C)
10g.49611914T>GCA376722195CHAT,SLC18A3c.1174T>G (p.Phe392Val)
c.-69+2715T>G (n.-69+2715T>G)
10g.49611915T>ACA376722197CHAT,SLC18A3c.1175T>A (p.Phe392Tyr)
c.-69+2716T>A (n.-69+2716T>A)
10g.49611915T>CCA376722198CHAT,SLC18A3c.1175T>C (p.Phe392Ser)
c.-69+2716T>C (n.-69+2716T>C)
10g.49611915T>GCA376722199CHAT,SLC18A3c.1175T>G (p.Phe392Cys)
c.-69+2716T>G (n.-69+2716T>G)
10g.49611916T>ACA376722200CHAT,SLC18A3c.1176T>A (p.Phe392Leu)
c.-69+2717T>A (n.-69+2717T>A)
10g.49611916T>CCA469791673CHAT,SLC18A3c.1176T>C (p.Phe392=)
c.-69+2717T>C (n.-69+2717T>C)
 dbSNP
10g.49611916T>GCA376722201CHAT,SLC18A3c.1176T>G (p.Phe392Leu)
c.-69+2717T>G (n.-69+2717T>G)
 gnomAD v4
10g.49611916T=CA1908795010CHAT,SLC18A3c.1176T= (p.Phe392=)
c.-69+2717T= (n.-69+2717T=)
10g.49611917G>ACA376722204CHAT,SLC18A3c.1177G>A (p.Gly393Ser)
c.-69+2718G>A (n.-69+2718G>A)
10g.49611917G>CCA376722203CHAT,SLC18A3c.1177G>C (p.Gly393Arg)
c.-69+2718G>C (n.-69+2718G>C)
10g.49611917G=CA1908795014CHAT,SLC18A3c.1177G= (p.Gly393=)
c.-69+2718G= (n.-69+2718G=)
10g.49611917G>TCA376722202CHAT,SLC18A3c.1177G>T (p.Gly393Cys)
c.-69+2718G>T (n.-69+2718G>T)
 dbSNP
10g.49611918G>ACA376722205CHAT,SLC18A3c.1178G>A (p.Gly393Asp)
c.-69+2719G>A (n.-69+2719G>A)
10g.49611918G>CCA376722206CHAT,SLC18A3c.1178G>C (p.Gly393Ala)
c.-69+2719G>C (n.-69+2719G>C)
10g.49611918G>TCA376722207CHAT,SLC18A3c.1178G>T (p.Gly393Val)
c.-69+2719G>T (n.-69+2719G>T)
 gnomAD v4
10g.49611919C>ACA469791699CHAT,SLC18A3c.1179C>A (p.Gly393=)
c.-69+2720C>A (n.-69+2720C>A)
10g.49611919C>GCA469791693CHAT,SLC18A3c.1179C>G (p.Gly393=)
c.-69+2720C>G (n.-69+2720C>G)
10g.49611919C>TCA469791698CHAT,SLC18A3c.1179C>T (p.Gly393=)
c.-69+2720C>T (n.-69+2720C>T)
10g.49611920A>CCA376722208CHAT,SLC18A3c.1180A>C (p.Ile394Leu)
c.-69+2721A>C (n.-69+2721A>C)
10g.49611920A>GCA376722209CHAT,SLC18A3c.1180A>G (p.Ile394Val)
c.-69+2721A>G (n.-69+2721A>G)
10g.49611920A>TCA376722210CHAT,SLC18A3c.1180A>T (p.Ile394Leu)
c.-69+2721A>T (n.-69+2721A>T)
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)

Number of alleles fetched