Chr Mutation (hg38) CAid Gene Transcript Linkouts
10g.49611829delCA5496900CHAT,SLC18A3c.1089del (p.Leu364TrpfsTer3)
c.-69+2630del (n.-69+2630del)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.49611829G>ACA469791414CHAT,SLC18A3c.1089G>A (p.Gly363=)
c.-69+2630G>A (n.-69+2630G>A)
 gnomAD v4
10g.49611829G>CCA469791412CHAT,SLC18A3c.1089G>C (p.Gly363=)
c.-69+2630G>C (n.-69+2630G>C)
 dbSNP gnomAD v2 gnomAD v4
10g.49611829G=CA1908794825CHAT,SLC18A3c.1089G= (p.Gly363=)
c.-69+2630G= (n.-69+2630G=)
10g.49611829G>TCA469791409CHAT,SLC18A3c.1089G>T (p.Gly363=)
c.-69+2630G>T (n.-69+2630G>T)
 gnomAD v4
10g.49611830C>ACA376722024CHAT,SLC18A3c.1090C>A (p.Leu364Met)
c.-69+2631C>A (n.-69+2631C>A)
10g.49611830C=CA1908794826CHAT,SLC18A3c.1090C= (p.Leu364=)
c.-69+2631C= (n.-69+2631C=)
10g.49611830C>GCA376722025CHAT,SLC18A3c.1090C>G (p.Leu364Val)
c.-69+2631C>G (n.-69+2631C>G)
10g.49611830C>TCA206621391CHAT,SLC18A3c.1090C>T (p.Leu364=)
c.-69+2631C>T (n.-69+2631C>T)
 dbSNP gnomAD v2
10g.49611831T>ACA376722026CHAT,SLC18A3c.1091T>A (p.Leu364Gln)
c.-69+2632T>A (n.-69+2632T>A)
10g.49611831T>CCA376722027CHAT,SLC18A3c.1091T>C (p.Leu364Pro)
c.-69+2632T>C (n.-69+2632T>C)
 dbSNP gnomAD v3 gnomAD v4
10g.49611831T>GCA376722028CHAT,SLC18A3c.1091T>G (p.Leu364Arg)
c.-69+2632T>G (n.-69+2632T>G)
10g.49611831T=CA1908794829CHAT,SLC18A3c.1091T= (p.Leu364=)
c.-69+2632T= (n.-69+2632T=)
10g.49611832G>ACA469791417CHAT,SLC18A3c.1092G>A (p.Leu364=)
c.-69+2633G>A (n.-69+2633G>A)
10g.49611832G>CCA5496901CHAT,SLC18A3c.1092G>C (p.Leu364=)
c.-69+2633G>C (n.-69+2633G>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.49611832G=CA1908794831CHAT,SLC18A3c.1092G= (p.Leu364=)
c.-69+2633G= (n.-69+2633G=)
10g.49611832G>TCA469791419CHAT,SLC18A3c.1092G>T (p.Leu364=)
c.-69+2633G>T (n.-69+2633G>T)
 dbSNP gnomAD v4
10g.49611833G>ACA376722029CHAT,SLC18A3c.1093G>A (p.Ala365Thr)
c.-69+2634G>A (n.-69+2634G>A)
 dbSNP gnomAD v3 gnomAD v4
10g.49611833G>CCA376722030CHAT,SLC18A3c.1093G>C (p.Ala365Pro)
c.-69+2634G>C (n.-69+2634G>C)
 ClinVar dbSNP
10g.49611833G=CA1908794834CHAT,SLC18A3c.1093G= (p.Ala365=)
c.-69+2634G= (n.-69+2634G=)
10g.49611833G>TCA376722031CHAT,SLC18A3c.1093G>T (p.Ala365Ser)
c.-69+2634G>T (n.-69+2634G>T)
 gnomAD v4
10g.49611834C>ACA376722032CHAT,SLC18A3c.1094C>A (p.Ala365Asp)
c.-69+2635C>A (n.-69+2635C>A)
10g.49611834C=CA1908794838CHAT,SLC18A3c.1094C= (p.Ala365=)
c.-69+2635C= (n.-69+2635C=)
10g.49611834C>GCA376722033CHAT,SLC18A3c.1094C>G (p.Ala365Gly)
c.-69+2635C>G (n.-69+2635C>G)
10g.49611834C>TCA376722034CHAT,SLC18A3c.1094C>T (p.Ala365Val)
c.-69+2635C>T (n.-69+2635C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.49611835T>ACA469791429CHAT,SLC18A3c.1095T>A (p.Ala365=)
c.-69+2636T>A (n.-69+2636T>A)
10g.49611835T>CCA469791426CHAT,SLC18A3c.1095T>C (p.Ala365=)
c.-69+2636T>C (n.-69+2636T>C)
10g.49611835T>GCA469791427CHAT,SLC18A3c.1095T>G (p.Ala365=)
c.-69+2636T>G (n.-69+2636T>G)
 COSMIC
10g.49611836G>ACA376722035CHAT,SLC18A3c.1096G>A (p.Val366Met)
c.-69+2637G>A (n.-69+2637G>A)
10g.49611836G>CCA376722037CHAT,SLC18A3c.1096G>C (p.Val366Leu)
c.-69+2637G>C (n.-69+2637G>C)
10g.49611836G>TCA376722036CHAT,SLC18A3c.1096G>T (p.Val366Leu)
c.-69+2637G>T (n.-69+2637G>T)
 gnomAD v4
10g.49611837T>ACA376722038CHAT,SLC18A3c.1097T>A (p.Val366Glu)
c.-69+2638T>A (n.-69+2638T>A)
10g.49611837T>CCA376722039CHAT,SLC18A3c.1097T>C (p.Val366Ala)
c.-69+2638T>C (n.-69+2638T>C)
10g.49611837T>GCA376722040CHAT,SLC18A3c.1097T>G (p.Val366Gly)
c.-69+2638T>G (n.-69+2638T>G)
10g.49611838G>ACA469791433CHAT,SLC18A3c.1098G>A (p.Val366=)
c.-69+2639G>A (n.-69+2639G>A)
10g.49611838G>CCA469791434CHAT,SLC18A3c.1098G>C (p.Val366=)
c.-69+2639G>C (n.-69+2639G>C)
10g.49611838G>TCA469791437CHAT,SLC18A3c.1098G>T (p.Val366=)
c.-69+2639G>T (n.-69+2639G>T)
 gnomAD v4
10g.49611839A>CCA376722041CHAT,SLC18A3c.1099A>C (p.Ile367Leu)
c.-69+2640A>C (n.-69+2640A>C)
10g.49611839A>GCA376722042CHAT,SLC18A3c.1099A>G (p.Ile367Val)
c.-69+2640A>G (n.-69+2640A>G)
10g.49611839A>TCA376722043CHAT,SLC18A3c.1099A>T (p.Ile367Phe)
c.-69+2640A>T (n.-69+2640A>T)
10g.49611840T>ACA376722044CHAT,SLC18A3c.1100T>A (p.Ile367Asn)
c.-69+2641T>A (n.-69+2641T>A)
10g.49611840T>CCA376722045CHAT,SLC18A3c.1100T>C (p.Ile367Thr)
c.-69+2641T>C (n.-69+2641T>C)
 dbSNP gnomAD v4
10g.49611840T>GCA376722046CHAT,SLC18A3c.1100T>G (p.Ile367Ser)
c.-69+2641T>G (n.-69+2641T>G)
10g.49611841C>ACA469791442CHAT,SLC18A3c.1101C>A (p.Ile367=)
c.-69+2642C>A (n.-69+2642C>A)
10g.49611841C>GCA376722047CHAT,SLC18A3c.1101C>G (p.Ile367Met)
c.-69+2642C>G (n.-69+2642C>G)
10g.49611841C>TCA469791443CHAT,SLC18A3c.1101C>T (p.Ile367=)
c.-69+2642C>T (n.-69+2642C>T)
 ClinVar dbSNP gnomAD v4
10g.49611842G>ACA376722048CHAT,SLC18A3c.1102G>A (p.Gly368Ser)
c.-69+2643G>A (n.-69+2643G>A)
 ClinVar dbSNP gnomAD v2 gnomAD v4
10g.49611842G>CCA376722049CHAT,SLC18A3c.1102G>C (p.Gly368Arg)
c.-69+2643G>C (n.-69+2643G>C)
 gnomAD v4
10g.49611842G=CA1908794840CHAT,SLC18A3c.1102G= (p.Gly368=)
c.-69+2643G= (n.-69+2643G=)
10g.49611842G>TCA376722050CHAT,SLC18A3c.1102G>T (p.Gly368Cys)
c.-69+2643G>T (n.-69+2643G>T)
 gnomAD v4
10g.49611843G>ACA376722053CHAT,SLC18A3c.1103G>A (p.Gly368Asp)
c.-69+2644G>A (n.-69+2644G>A)
10g.49611843G>CCA376722051CHAT,SLC18A3c.1103G>C (p.Gly368Ala)
c.-69+2644G>C (n.-69+2644G>C)
10g.49611843G>TCA376722052CHAT,SLC18A3c.1103G>T (p.Gly368Val)
c.-69+2644G>T (n.-69+2644G>T)
 gnomAD v4
10g.49611843_49611844insGGCTGGCTGTGATCA2609117158CHAT,SLC18A3c.1103_1104insGGCTGGCTGTGAT (p.Ser370GlyfsTer?)
c.-69+2644_-69+2645insGGCTGGCTGTGAT (n.-69+2644_-69+2645insGGCTGGCTGTGAT)
 gnomAD v4
10g.49611844C>ACA469791446CHAT,SLC18A3c.1104C>A (p.Gly368=)
c.-69+2645C>A (n.-69+2645C>A)
 dbSNP gnomAD v2 gnomAD v4
10g.49611844C=CA1908794843CHAT,SLC18A3c.1104C= (p.Gly368=)
c.-69+2645C= (n.-69+2645C=)
10g.49611844C>GCA469791448CHAT,SLC18A3c.1104C>G (p.Gly368=)
c.-69+2645C>G (n.-69+2645C>G)
10g.49611844C>TCA469791444CHAT,SLC18A3c.1104C>T (p.Gly368=)
c.-69+2645C>T (n.-69+2645C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
10g.49611845G>ACA376722054CHAT,SLC18A3c.1105G>A (p.Ala369Thr)
c.-69+2646G>A (n.-69+2646G>A)
 gnomAD v4
10g.49611845G>CCA376722055CHAT,SLC18A3c.1105G>C (p.Ala369Pro)
c.-69+2646G>C (n.-69+2646G>C)
10g.49611845G>TCA376722056CHAT,SLC18A3c.1105G>T (p.Ala369Ser)
c.-69+2646G>T (n.-69+2646G>T)
 gnomAD v4
10g.49611845_49611846insGCCCA2609117183CHAT,SLC18A3c.1105_1106insGCC (p.Ala369delinsGlyPro)
c.-69+2646_-69+2647insGCC (n.-69+2646_-69+2647insGCC)
 gnomAD v4
10g.49611846C>ACA376722057CHAT,SLC18A3c.1106C>A (p.Ala369Asp)
c.-69+2647C>A (n.-69+2647C>A)
10g.49611846C>GCA376722058CHAT,SLC18A3c.1106C>G (p.Ala369Gly)
c.-69+2647C>G (n.-69+2647C>G)
10g.49611846C>TCA376722059CHAT,SLC18A3c.1106C>T (p.Ala369Val)
c.-69+2647C>T (n.-69+2647C>T)
10g.49611847C>ACA469791449CHAT,SLC18A3c.1107C>A (p.Ala369=)
c.-69+2648C>A (n.-69+2648C>A)
10g.49611847C=CA1908794847CHAT,SLC18A3c.1107C= (p.Ala369=)
c.-69+2648C= (n.-69+2648C=)
10g.49611847C>GCA469791454CHAT,SLC18A3c.1107C>G (p.Ala369=)
c.-69+2648C>G (n.-69+2648C>G)
 dbSNP gnomAD v2 gnomAD v4
10g.49611847C>TCA469791452CHAT,SLC18A3c.1107C>T (p.Ala369=)
c.-69+2648C>T (n.-69+2648C>T)
10g.49611848A=CA1908794854CHAT,SLC18A3c.1108A= (p.Ser370=)
c.-69+2649A= (n.-69+2649A=)
10g.49611848A>CCA376722060CHAT,SLC18A3c.1108A>C (p.Ser370Arg)
c.-69+2649A>C (n.-69+2649A>C)
10g.49611848A>GCA376722061CHAT,SLC18A3c.1108A>G (p.Ser370Gly)
c.-69+2649A>G (n.-69+2649A>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.49611848A>TCA376722062CHAT,SLC18A3c.1108A>T (p.Ser370Cys)
c.-69+2649A>T (n.-69+2649A>T)
10g.49611849G>ACA5496902CHAT,SLC18A3c.1109G>A (p.Ser370Asn)
c.-69+2650G>A (n.-69+2650G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.49611849G>CCA376722063CHAT,SLC18A3c.1109G>C (p.Ser370Thr)
c.-69+2650G>C (n.-69+2650G>C)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.49611849G=CA1908794861CHAT,SLC18A3c.1109G= (p.Ser370=)
c.-69+2650G= (n.-69+2650G=)
10g.49611849G>TCA376722064CHAT,SLC18A3c.1109G>T (p.Ser370Ile)
c.-69+2650G>T (n.-69+2650G>T)
 ClinVar dbSNP gnomAD v4
10g.49611850C>ACA376722066CHAT,SLC18A3c.1110C>A (p.Ser370Arg)
c.-69+2651C>A (n.-69+2651C>A)
 gnomAD v4
10g.49611850C>GCA376722065CHAT,SLC18A3c.1110C>G (p.Ser370Arg)
c.-69+2651C>G (n.-69+2651C>G)
 gnomAD v4
10g.49611850C>TCA469791459CHAT,SLC18A3c.1110C>T (p.Ser370=)
c.-69+2651C>T (n.-69+2651C>T)
 gnomAD v4
10g.49611851T>ACA376722067CHAT,SLC18A3c.1111T>A (p.Ser371Thr)
c.-69+2652T>A (n.-69+2652T>A)
10g.49611851T>CCA376722069CHAT,SLC18A3c.1111T>C (p.Ser371Pro)
c.-69+2652T>C (n.-69+2652T>C)
10g.49611851T>GCA376722068CHAT,SLC18A3c.1111T>G (p.Ser371Ala)
c.-69+2652T>G (n.-69+2652T>G)
 gnomAD v4
10g.49611852C>ACA376722070CHAT,SLC18A3c.1112C>A (p.Ser371Ter)
c.-69+2653C>A (n.-69+2653C>A)
 gnomAD v4
10g.49611852C>GCA376722072CHAT,SLC18A3c.1112C>G (p.Ser371Trp)
c.-69+2653C>G (n.-69+2653C>G)
 gnomAD v4
10g.49611852C>TCA376722071CHAT,SLC18A3c.1112C>T (p.Ser371Leu)
c.-69+2653C>T (n.-69+2653C>T)
10g.49611853G>ACA469791470CHAT,SLC18A3c.1113G>A (p.Ser371=)
c.-69+2654G>A (n.-69+2654G>A)
10g.49611853G>CCA469791467CHAT,SLC18A3c.1113G>C (p.Ser371=)
c.-69+2654G>C (n.-69+2654G>C)
 gnomAD v4
10g.49611853G=CA1908794865CHAT,SLC18A3c.1113G= (p.Ser371=)
c.-69+2654G= (n.-69+2654G=)
10g.49611853G>TCA469791468CHAT,SLC18A3c.1113G>T (p.Ser371=)
c.-69+2654G>T (n.-69+2654G>T)
 ClinVar dbSNP gnomAD v2 gnomAD v4
10g.49611854T>ACA376722073CHAT,SLC18A3c.1114T>A (p.Cys372Ser)
c.-69+2655T>A (n.-69+2655T>A)
10g.49611854T>CCA376722074CHAT,SLC18A3c.1114T>C (p.Cys372Arg)
c.-69+2655T>C (n.-69+2655T>C)
 dbSNP
10g.49611854T>GCA376722075CHAT,SLC18A3c.1114T>G (p.Cys372Gly)
c.-69+2655T>G (n.-69+2655T>G)
 dbSNP gnomAD v2
10g.49611854T=CA1908794869CHAT,SLC18A3c.1114T= (p.Cys372=)
c.-69+2655T= (n.-69+2655T=)
10g.49611855G>ACA376722076CHAT,SLC18A3c.1115G>A (p.Cys372Tyr)
c.-69+2656G>A (n.-69+2656G>A)
10g.49611855G>CCA376722077CHAT,SLC18A3c.1115G>C (p.Cys372Ser)
c.-69+2656G>C (n.-69+2656G>C)
10g.49611855G>TCA376722078CHAT,SLC18A3c.1115G>T (p.Cys372Phe)
c.-69+2656G>T (n.-69+2656G>T)
 gnomAD v4
10g.49611856C>ACA5496903CHAT,SLC18A3c.1116C>A (p.Cys372Ter)
c.-69+2657C>A (n.-69+2657C>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.49611856C=CA1908794875CHAT,SLC18A3c.1116C= (p.Cys372=)
c.-69+2657C= (n.-69+2657C=)
10g.49611856C>GCA376722079CHAT,SLC18A3c.1116C>G (p.Cys372Trp)
c.-69+2657C>G (n.-69+2657C>G)
 dbSNP gnomAD v4
10g.49611856C>TCA469791476CHAT,SLC18A3c.1116C>T (p.Cys372=)
c.-69+2657C>T (n.-69+2657C>T)
 gnomAD v4
10g.49611857A>CCA376722080CHAT,SLC18A3c.1117A>C (p.Ile373Leu)
c.-69+2658A>C (n.-69+2658A>C)
10g.49611857A>GCA376722081CHAT,SLC18A3c.1117A>G (p.Ile373Val)
c.-69+2658A>G (n.-69+2658A>G)
 gnomAD v4
10g.49611857A>TCA376722082CHAT,SLC18A3c.1117A>T (p.Ile373Phe)
c.-69+2658A>T (n.-69+2658A>T)
10g.49611858T>ACA376722085CHAT,SLC18A3c.1118T>A (p.Ile373Asn)
c.-69+2659T>A (n.-69+2659T>A)
10g.49611858T>CCA376722083CHAT,SLC18A3c.1118T>C (p.Ile373Thr)
c.-69+2659T>C (n.-69+2659T>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.49611858T>GCA376722084CHAT,SLC18A3c.1118T>G (p.Ile373Ser)
c.-69+2659T>G (n.-69+2659T>G)
10g.49611858T=CA1908794877CHAT,SLC18A3c.1118T= (p.Ile373=)
c.-69+2659T= (n.-69+2659T=)
10g.49611859C>ACA469791483CHAT,SLC18A3c.1119C>A (p.Ile373=)
c.-69+2660C>A (n.-69+2660C>A)
10g.49611859C>GCA376722086CHAT,SLC18A3c.1119C>G (p.Ile373Met)
c.-69+2660C>G (n.-69+2660C>G)
10g.49611859C>TCA469791481CHAT,SLC18A3c.1119C>T (p.Ile373=)
c.-69+2660C>T (n.-69+2660C>T)
 gnomAD v4
10g.49611860G>ACA5496905CHAT,SLC18A3c.1120G>A (p.Val374Met)
c.-69+2661G>A (n.-69+2661G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.49611860G>CCA5496904CHAT,SLC18A3c.1120G>C (p.Val374Leu)
c.-69+2661G>C (n.-69+2661G>C)
 dbSNP ExAC gnomAD v4
10g.49611860G=CA1908794881CHAT,SLC18A3c.1120G= (p.Val374=)
c.-69+2661G= (n.-69+2661G=)
10g.49611860G>TCA376722087CHAT,SLC18A3c.1120G>T (p.Val374Leu)
c.-69+2661G>T (n.-69+2661G>T)
 gnomAD v4
10g.49611861T>ACA376722088CHAT,SLC18A3c.1121T>A (p.Val374Glu)
c.-69+2662T>A (n.-69+2662T>A)
10g.49611861T>CCA376722089CHAT,SLC18A3c.1121T>C (p.Val374Ala)
c.-69+2662T>C (n.-69+2662T>C)
10g.49611861T>GCA376722090CHAT,SLC18A3c.1121T>G (p.Val374Gly)
c.-69+2662T>G (n.-69+2662T>G)
10g.49611862G>ACA469791503CHAT,SLC18A3c.1122G>A (p.Val374=)
c.-69+2663G>A (n.-69+2663G>A)
10g.49611862G>CCA206621402CHAT,SLC18A3c.1122G>C (p.Val374=)
c.-69+2663G>C (n.-69+2663G>C)
 ClinVar dbSNP gnomAD v3 gnomAD v4
10g.49611862G=CA1908794886CHAT,SLC18A3c.1122G= (p.Val374=)
c.-69+2663G= (n.-69+2663G=)
10g.49611862G>TCA206621403CHAT,SLC18A3c.1122G>T (p.Val374=)
c.-69+2663G>T (n.-69+2663G>T)
 dbSNP gnomAD v4
10g.49611863C>ACA376722091CHAT,SLC18A3c.1123C>A (p.Pro375Thr)
c.-69+2664C>A (n.-69+2664C>A)
 gnomAD v4
10g.49611863C>GCA376722092CHAT,SLC18A3c.1123C>G (p.Pro375Ala)
c.-69+2664C>G (n.-69+2664C>G)
10g.49611863C>TCA376722093CHAT,SLC18A3c.1123C>T (p.Pro375Ser)
c.-69+2664C>T (n.-69+2664C>T)
 gnomAD v4
10g.49611864C>ACA376722096CHAT,SLC18A3c.1124C>A (p.Pro375His)
c.-69+2665C>A (n.-69+2665C>A)
 gnomAD v4
10g.49611864C>GCA376722095CHAT,SLC18A3c.1124C>G (p.Pro375Arg)
c.-69+2665C>G (n.-69+2665C>G)
10g.49611864C>TCA376722094CHAT,SLC18A3c.1124C>T (p.Pro375Leu)
c.-69+2665C>T (n.-69+2665C>T)
10g.49611865C>ACA469791508CHAT,SLC18A3c.1125C>A (p.Pro375=)
c.-69+2666C>A (n.-69+2666C>A)
 gnomAD v4
10g.49611865C=CA1908794892CHAT,SLC18A3c.1125C= (p.Pro375=)
c.-69+2666C= (n.-69+2666C=)
10g.49611865C>GCA5496906CHAT,SLC18A3c.1125C>G (p.Pro375=)
c.-69+2666C>G (n.-69+2666C>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.49611865C>TCA469791511CHAT,SLC18A3c.1125C>T (p.Pro375=)
c.-69+2666C>T (n.-69+2666C>T)
 dbSNP gnomAD v3 gnomAD v4
10g.49611866delCA2609117250CHAT,SLC18A3c.1126del (p.Ala376ProfsTer8)
c.-69+2667del (n.-69+2667del)
 gnomAD v4
10g.49611866G>ACA5496908CHAT,SLC18A3c.1126G>A (p.Ala376Thr)
c.-69+2667G>A (n.-69+2667G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.49611866G>CCA5496907CHAT,SLC18A3c.1126G>C (p.Ala376Pro)
c.-69+2667G>C (n.-69+2667G>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.49611866G=CA1908794900CHAT,SLC18A3c.1126G= (p.Ala376=)
c.-69+2667G= (n.-69+2667G=)
10g.49611866G>TCA5496909CHAT,SLC18A3c.1126G>T (p.Ala376Ser)
c.-69+2667G>T (n.-69+2667G>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.49611867C>ACA376722097CHAT,SLC18A3c.1127C>A (p.Ala376Asp)
c.-69+2668C>A (n.-69+2668C>A)
 gnomAD v4
10g.49611867C>GCA376722098CHAT,SLC18A3c.1127C>G (p.Ala376Gly)
c.-69+2668C>G (n.-69+2668C>G)
10g.49611867C>TCA376722099CHAT,SLC18A3c.1127C>T (p.Ala376Val)
c.-69+2668C>T (n.-69+2668C>T)
 COSMIC
10g.49611868C>ACA469791516CHAT,SLC18A3c.1128C>A (p.Ala376=)
c.-69+2669C>A (n.-69+2669C>A)
10g.49611868C>GCA469791518CHAT,SLC18A3c.1128C>G (p.Ala376=)
c.-69+2669C>G (n.-69+2669C>G)
10g.49611868C>TCA469791517CHAT,SLC18A3c.1128C>T (p.Ala376=)
c.-69+2669C>T (n.-69+2669C>T)
10g.49611869T>ACA376722100CHAT,SLC18A3c.1129T>A (p.Cys377Ser)
c.-69+2670T>A (n.-69+2670T>A)
 dbSNP
10g.49611869T>CCA376722101CHAT,SLC18A3c.1129T>C (p.Cys377Arg)
c.-69+2670T>C (n.-69+2670T>C)
10g.49611869T>GCA376722102CHAT,SLC18A3c.1129T>G (p.Cys377Gly)
c.-69+2670T>G (n.-69+2670T>G)
10g.49611869T=CA1908794907CHAT,SLC18A3c.1129T= (p.Cys377=)
c.-69+2670T= (n.-69+2670T=)
10g.49611870G>ACA376722103CHAT,SLC18A3c.1130G>A (p.Cys377Tyr)
c.-69+2671G>A (n.-69+2671G>A)
10g.49611870G>CCA376722104CHAT,SLC18A3c.1130G>C (p.Cys377Ser)
c.-69+2671G>C (n.-69+2671G>C)
10g.49611870G>TCA376722105CHAT,SLC18A3c.1130G>T (p.Cys377Phe)
c.-69+2671G>T (n.-69+2671G>T)
10g.49611871C>ACA376722106CHAT,SLC18A3c.1131C>A (p.Cys377Ter)
c.-69+2672C>A (n.-69+2672C>A)
10g.49611871C=CA1908794909CHAT,SLC18A3c.1131C= (p.Cys377=)
c.-69+2672C= (n.-69+2672C=)
10g.49611871C>GCA376722107CHAT,SLC18A3c.1131C>G (p.Cys377Trp)
c.-69+2672C>G (n.-69+2672C>G)
10g.49611871C>TCA469791522CHAT,SLC18A3c.1131C>T (p.Cys377=)
c.-69+2672C>T (n.-69+2672C>T)
 dbSNP gnomAD v2 gnomAD v4
10g.49611872C>ACA376722108CHAT,SLC18A3c.1132C>A (p.Arg378Ser)
c.-69+2673C>A (n.-69+2673C>A)
 ClinVar dbSNP gnomAD v3 gnomAD v4
10g.49611872C=CA1908794914CHAT,SLC18A3c.1132C= (p.Arg378=)
c.-69+2673C= (n.-69+2673C=)
10g.49611872C>GCA376722109CHAT,SLC18A3c.1132C>G (p.Arg378Gly)
c.-69+2673C>G (n.-69+2673C>G)
10g.49611872C>TCA376722110CHAT,SLC18A3c.1132C>T (p.Arg378Cys)
c.-69+2673C>T (n.-69+2673C>T)
10g.49611873G>ACA376722111CHAT,SLC18A3c.1133G>A (p.Arg378His)
c.-69+2674G>A (n.-69+2674G>A)
 dbSNP gnomAD v4
10g.49611873G>CCA376722112CHAT,SLC18A3c.1133G>C (p.Arg378Pro)
c.-69+2674G>C (n.-69+2674G>C)
10g.49611873G=CA1908794917CHAT,SLC18A3c.1133G= (p.Arg378=)
c.-69+2674G= (n.-69+2674G=)
10g.49611873G>TCA376722113CHAT,SLC18A3c.1133G>T (p.Arg378Leu)
c.-69+2674G>T (n.-69+2674G>T)
 gnomAD v4
10g.49611874C>ACA469791535CHAT,SLC18A3c.1134C>A (p.Arg378=)
c.-69+2675C>A (n.-69+2675C>A)
10g.49611874C=CA1908794920CHAT,SLC18A3c.1134C= (p.Arg378=)
c.-69+2675C= (n.-69+2675C=)
10g.49611874C>GCA469791538CHAT,SLC18A3c.1134C>G (p.Arg378=)
c.-69+2675C>G (n.-69+2675C>G)
10g.49611874C>TCA469791536CHAT,SLC18A3c.1134C>T (p.Arg378=)
c.-69+2675C>T (n.-69+2675C>T)
 dbSNP gnomAD v2 gnomAD v4
10g.49611875T>ACA376722114CHAT,SLC18A3c.1135T>A (p.Ser379Thr)
c.-69+2676T>A (n.-69+2676T>A)
10g.49611875T>CCA376722115CHAT,SLC18A3c.1135T>C (p.Ser379Pro)
c.-69+2676T>C (n.-69+2676T>C)
10g.49611875T>GCA376722116CHAT,SLC18A3c.1135T>G (p.Ser379Ala)
c.-69+2676T>G (n.-69+2676T>G)
10g.49611876C>ACA376722117CHAT,SLC18A3c.1136C>A (p.Ser379Tyr)
c.-69+2677C>A (n.-69+2677C>A)
10g.49611876C>GCA376722118CHAT,SLC18A3c.1136C>G (p.Ser379Cys)
c.-69+2677C>G (n.-69+2677C>G)
10g.49611876C>TCA376722119CHAT,SLC18A3c.1136C>T (p.Ser379Phe)
c.-69+2677C>T (n.-69+2677C>T)
 gnomAD v4
10g.49611877C>ACA469791551CHAT,SLC18A3c.1137C>A (p.Ser379=)
c.-69+2678C>A (n.-69+2678C>A)
10g.49611877C>GCA469791550CHAT,SLC18A3c.1137C>G (p.Ser379=)
c.-69+2678C>G (n.-69+2678C>G)
10g.49611877C>TCA469791549CHAT,SLC18A3c.1137C>T (p.Ser379=)
c.-69+2678C>T (n.-69+2678C>T)
10g.49611878T>ACA376722121CHAT,SLC18A3c.1138T>A (p.Phe380Ile)
c.-69+2679T>A (n.-69+2679T>A)
10g.49611878T>CCA376722122CHAT,SLC18A3c.1138T>C (p.Phe380Leu)
c.-69+2679T>C (n.-69+2679T>C)
10g.49611878T>GCA376722120CHAT,SLC18A3c.1138T>G (p.Phe380Val)
c.-69+2679T>G (n.-69+2679T>G)
10g.49611879T>ACA376722123CHAT,SLC18A3c.1139T>A (p.Phe380Tyr)
c.-69+2680T>A (n.-69+2680T>A)
10g.49611879T>CCA376722124CHAT,SLC18A3c.1139T>C (p.Phe380Ser)
c.-69+2680T>C (n.-69+2680T>C)
10g.49611879T>GCA376722125CHAT,SLC18A3c.1139T>G (p.Phe380Cys)
c.-69+2680T>G (n.-69+2680T>G)
10g.49611880C>ACA376722126CHAT,SLC18A3c.1140C>A (p.Phe380Leu)
c.-69+2681C>A (n.-69+2681C>A)
10g.49611880C>GCA376722127CHAT,SLC18A3c.1140C>G (p.Phe380Leu)
c.-69+2681C>G (n.-69+2681C>G)
10g.49611880C>TCA469791563CHAT,SLC18A3c.1140C>T (p.Phe380=)
c.-69+2681C>T (n.-69+2681C>T)
 gnomAD v4 COSMIC
10g.49611881G>ACA376722130CHAT,SLC18A3c.1141G>A (p.Ala381Thr)
c.-69+2682G>A (n.-69+2682G>A)
10g.49611881G>CCA376722129CHAT,SLC18A3c.1141G>C (p.Ala381Pro)
c.-69+2682G>C (n.-69+2682G>C)
 dbSNP
10g.49611881G=CA1908794925CHAT,SLC18A3c.1141G= (p.Ala381=)
c.-69+2682G= (n.-69+2682G=)
10g.49611881G>TCA376722128CHAT,SLC18A3c.1141G>T (p.Ala381Ser)
c.-69+2682G>T (n.-69+2682G>T)
 gnomAD v4
10g.49611882delCA645559476CHAT,SLC18A3c.1142del (p.Ala381GlyfsTer3)
c.-69+2683del (n.-69+2683del)
 COSMIC
10g.49611882C>ACA376722131CHAT,SLC18A3c.1142C>A (p.Ala381Glu)
c.-69+2683C>A (n.-69+2683C>A)
10g.49611882C>GCA376722132CHAT,SLC18A3c.1142C>G (p.Ala381Gly)
c.-69+2683C>G (n.-69+2683C>G)
10g.49611882C>TCA376722133CHAT,SLC18A3c.1142C>T (p.Ala381Val)
c.-69+2683C>T (n.-69+2683C>T)
10g.49611883G>ACA469791572CHAT,SLC18A3c.1143G>A (p.Ala381=)
c.-69+2684G>A (n.-69+2684G>A)
 dbSNP gnomAD v2 gnomAD v4
10g.49611883G>CCA469791574CHAT,SLC18A3c.1143G>C (p.Ala381=)
c.-69+2684G>C (n.-69+2684G>C)
 gnomAD v4
10g.49611883G=CA1908794930CHAT,SLC18A3c.1143G= (p.Ala381=)
c.-69+2684G= (n.-69+2684G=)
10g.49611883G>TCA5496910CHAT,SLC18A3c.1143G>T (p.Ala381=)
c.-69+2684G>T (n.-69+2684G>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.49611884C>ACA376722134CHAT,SLC18A3c.1144C>A (p.Pro382Thr)
c.-69+2685C>A (n.-69+2685C>A)
10g.49611884C>GCA376722135CHAT,SLC18A3c.1144C>G (p.Pro382Ala)
c.-69+2685C>G (n.-69+2685C>G)
10g.49611884C>TCA376722136CHAT,SLC18A3c.1144C>T (p.Pro382Ser)
c.-69+2685C>T (n.-69+2685C>T)
10g.49611885C>ACA376722137CHAT,SLC18A3c.1145C>A (p.Pro382Gln)
c.-69+2686C>A (n.-69+2686C>A)
10g.49611885C>GCA376722139CHAT,SLC18A3c.1145C>G (p.Pro382Arg)
c.-69+2686C>G (n.-69+2686C>G)
10g.49611885C>TCA376722138CHAT,SLC18A3c.1145C>T (p.Pro382Leu)
c.-69+2686C>T (n.-69+2686C>T)
 gnomAD v4 COSMIC
10g.49611886G>ACA469791581CHAT,SLC18A3c.1146G>A (p.Pro382=)
c.-69+2687G>A (n.-69+2687G>A)
 gnomAD v4
10g.49611886G>CCA469791578CHAT,SLC18A3c.1146G>C (p.Pro382=)
c.-69+2687G>C (n.-69+2687G>C)
 gnomAD v4
10g.49611886G>TCA469791579CHAT,SLC18A3c.1146G>T (p.Pro382=)
c.-69+2687G>T (n.-69+2687G>T)
 gnomAD v4
10g.49611887C>ACA376722140CHAT,SLC18A3c.1147C>A (p.Leu383Ile)
c.-69+2688C>A (n.-69+2688C>A)
10g.49611887C>GCA376722141CHAT,SLC18A3c.1147C>G (p.Leu383Val)
c.-69+2688C>G (n.-69+2688C>G)
10g.49611887C>TCA469791582CHAT,SLC18A3c.1147C>T (p.Leu383=)
c.-69+2688C>T (n.-69+2688C>T)
 gnomAD v4
10g.49611888T>ACA376722142CHAT,SLC18A3c.1148T>A (p.Leu383Gln)
c.-69+2689T>A (n.-69+2689T>A)
10g.49611888T>CCA376722143CHAT,SLC18A3c.1148T>C (p.Leu383Pro)
c.-69+2689T>C (n.-69+2689T>C)
10g.49611888T>GCA376722144CHAT,SLC18A3c.1148T>G (p.Leu383Arg)
c.-69+2689T>G (n.-69+2689T>G)
 gnomAD v4
10g.49611889A=CA1908794938CHAT,SLC18A3c.1149A= (p.Leu383=)
c.-69+2690A= (n.-69+2690A=)
10g.49611889A>CCA469791589CHAT,SLC18A3c.1149A>C (p.Leu383=)
c.-69+2690A>C (n.-69+2690A>C)
10g.49611889A>GCA5496911CHAT,SLC18A3c.1149A>G (p.Leu383=)
c.-69+2690A>G (n.-69+2690A>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.49611889A>TCA469791588CHAT,SLC18A3c.1149A>T (p.Leu383=)
c.-69+2690A>T (n.-69+2690A>T)
 COSMIC
10g.49611890G>ACA376722145CHAT,SLC18A3c.1150G>A (p.Val384Met)
c.-69+2691G>A (n.-69+2691G>A)
10g.49611890G>CCA376722146CHAT,SLC18A3c.1150G>C (p.Val384Leu)
c.-69+2691G>C (n.-69+2691G>C)
10g.49611890G=CA1908794941CHAT,SLC18A3c.1150G= (p.Val384=)
c.-69+2691G= (n.-69+2691G=)
10g.49611890G>TCA376722147CHAT,SLC18A3c.1150G>T (p.Val384Leu)
c.-69+2691G>T (n.-69+2691G>T)
 dbSNP gnomAD v3 gnomAD v4
10g.49611891T>ACA376722148CHAT,SLC18A3c.1151T>A (p.Val384Glu)
c.-69+2692T>A (n.-69+2692T>A)
 dbSNP gnomAD v3 gnomAD v4
10g.49611891T>CCA376722149CHAT,SLC18A3c.1151T>C (p.Val384Ala)
c.-69+2692T>C (n.-69+2692T>C)
10g.49611891T>GCA376722150CHAT,SLC18A3c.1151T>G (p.Val384Gly)
c.-69+2692T>G (n.-69+2692T>G)
10g.49611891T=CA1908794950CHAT,SLC18A3c.1151T= (p.Val384=)
c.-69+2692T= (n.-69+2692T=)
10g.49611892G>ACA469791599CHAT,SLC18A3c.1152G>A (p.Val384=)
c.-69+2693G>A (n.-69+2693G>A)
10g.49611892G>CCA469791600CHAT,SLC18A3c.1152G>C (p.Val384=)
c.-69+2693G>C (n.-69+2693G>C)
 dbSNP gnomAD v3 gnomAD v4
10g.49611892G=CA1908794957CHAT,SLC18A3c.1152G= (p.Val384=)
c.-69+2693G= (n.-69+2693G=)
10g.49611892G>TCA469791592CHAT,SLC18A3c.1152G>T (p.Val384=)
c.-69+2693G>T (n.-69+2693G>T)
 gnomAD v4
10g.49611893G>ACA376722151CHAT,SLC18A3c.1153G>A (p.Val385Ile)
c.-69+2694G>A (n.-69+2694G>A)
 ClinVar
10g.49611893G>CCA376722153CHAT,SLC18A3c.1153G>C (p.Val385Leu)
c.-69+2694G>C (n.-69+2694G>C)
10g.49611893G>TCA376722152CHAT,SLC18A3c.1153G>T (p.Val385Phe)
c.-69+2694G>T (n.-69+2694G>T)
 gnomAD v4
10g.49611894T>ACA376722154CHAT,SLC18A3c.1154T>A (p.Val385Asp)
c.-69+2695T>A (n.-69+2695T>A)
10g.49611894T>CCA376722155CHAT,SLC18A3c.1154T>C (p.Val385Ala)
c.-69+2695T>C (n.-69+2695T>C)
10g.49611894T>GCA376722156CHAT,SLC18A3c.1154T>G (p.Val385Gly)
c.-69+2695T>G (n.-69+2695T>G)
 dbSNP gnomAD v2 gnomAD v4
10g.49611894T=CA1908794962CHAT,SLC18A3c.1154T= (p.Val385=)
c.-69+2695T= (n.-69+2695T=)
10g.49611895C>ACA469791615CHAT,SLC18A3c.1155C>A (p.Val385=)
c.-69+2696C>A (n.-69+2696C>A)
10g.49611895C=CA1908794967CHAT,SLC18A3c.1155C= (p.Val385=)
c.-69+2696C= (n.-69+2696C=)
10g.49611895C>GCA469791613CHAT,SLC18A3c.1155C>G (p.Val385=)
c.-69+2696C>G (n.-69+2696C>G)
10g.49611895C>TCA5496912CHAT,SLC18A3c.1155C>T (p.Val385=)
c.-69+2696C>T (n.-69+2696C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
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)

Number of alleles fetched