Chr Mutation (hg38) CAid Gene Transcript Linkouts
10g.49611722G>ACA376721574CHAT,SLC18A3c.982G>A (p.Gly328Ser)
c.-69+2523G>A (n.-69+2523G>A)
 dbSNP gnomAD v2 gnomAD v4
10g.49611722G>CCA376721576CHAT,SLC18A3c.982G>C (p.Gly328Arg)
c.-69+2523G>C (n.-69+2523G>C)
 gnomAD v4
10g.49611722G=CA1908794547CHAT,SLC18A3c.982G= (p.Gly328=)
c.-69+2523G= (n.-69+2523G=)
10g.49611722G>TCA376721578CHAT,SLC18A3c.982G>T (p.Gly328Cys)
c.-69+2523G>T (n.-69+2523G>T)
 gnomAD v4
10g.49611723G>ACA376721581CHAT,SLC18A3c.983G>A (p.Gly328Asp)
c.-69+2524G>A (n.-69+2524G>A)
 gnomAD v4
10g.49611723G>CCA376721583CHAT,SLC18A3c.983G>C (p.Gly328Ala)
c.-69+2524G>C (n.-69+2524G>C)
10g.49611723G>TCA376721585CHAT,SLC18A3c.983G>T (p.Gly328Val)
c.-69+2524G>T (n.-69+2524G>T)
 gnomAD v4
10g.49611724C>ACA469791404CHAT,SLC18A3c.984C>A (p.Gly328=)
c.-69+2525C>A (n.-69+2525C>A)
10g.49611724C=CA1908794548CHAT,SLC18A3c.984C= (p.Gly328=)
c.-69+2525C= (n.-69+2525C=)
10g.49611724C>GCA469791402CHAT,SLC18A3c.984C>G (p.Gly328=)
c.-69+2525C>G (n.-69+2525C>G)
10g.49611724C>TCA206621328CHAT,SLC18A3c.984C>T (p.Gly328=)
c.-69+2525C>T (n.-69+2525C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.49611725A=CA1908794549CHAT,SLC18A3c.985A= (p.Met329=)
c.-69+2526A= (n.-69+2526A=)
10g.49611725A>CCA376721591CHAT,SLC18A3c.985A>C (p.Met329Leu)
c.-69+2526A>C (n.-69+2526A>C)
10g.49611725A>GCA376721593CHAT,SLC18A3c.985A>G (p.Met329Val)
c.-69+2526A>G (n.-69+2526A>G)
 dbSNP gnomAD v2 gnomAD v4
10g.49611725A>TCA376721595CHAT,SLC18A3c.985A>T (p.Met329Leu)
c.-69+2526A>T (n.-69+2526A>T)
 ClinVar
10g.49611726T>ACA376721597CHAT,SLC18A3c.986T>A (p.Met329Lys)
c.-69+2527T>A (n.-69+2527T>A)
10g.49611726T>CCA376721598CHAT,SLC18A3c.986T>C (p.Met329Thr)
c.-69+2527T>C (n.-69+2527T>C)
 gnomAD v4
10g.49611726T>GCA376721600CHAT,SLC18A3c.986T>G (p.Met329Arg)
c.-69+2527T>G (n.-69+2527T>G)
10g.49611727G>ACA376721609CHAT,SLC18A3c.987G>A (p.Met329Ile)
c.-69+2528G>A (n.-69+2528G>A)
 dbSNP gnomAD v2
10g.49611727G>CCA376721604CHAT,SLC18A3c.987G>C (p.Met329Ile)
c.-69+2528G>C (n.-69+2528G>C)
10g.49611727G=CA1908794550CHAT,SLC18A3c.987G= (p.Met329=)
c.-69+2528G= (n.-69+2528G=)
10g.49611727G>TCA376721606CHAT,SLC18A3c.987G>T (p.Met329Ile)
c.-69+2528G>T (n.-69+2528G>T)
 dbSNP
10g.49611728G>ACA376721611CHAT,SLC18A3c.988G>A (p.Ala330Thr)
c.-69+2529G>A (n.-69+2529G>A)
 gnomAD v4
10g.49611728G>CCA376721613CHAT,SLC18A3c.988G>C (p.Ala330Pro)
c.-69+2529G>C (n.-69+2529G>C)
10g.49611728G>TCA376721615CHAT,SLC18A3c.988G>T (p.Ala330Ser)
c.-69+2529G>T (n.-69+2529G>T)
 ClinVar gnomAD v4
10g.49611729C>ACA376721619CHAT,SLC18A3c.989C>A (p.Ala330Asp)
c.-69+2530C>A (n.-69+2530C>A)
 gnomAD v4
10g.49611729C>GCA376721621CHAT,SLC18A3c.989C>G (p.Ala330Gly)
c.-69+2530C>G (n.-69+2530C>G)
10g.49611729C>TCA376721623CHAT,SLC18A3c.989C>T (p.Ala330Val)
c.-69+2530C>T (n.-69+2530C>T)
 gnomAD v4
10g.49611730delCA2609116799CHAT,SLC18A3c.990del (p.Trp331GlyfsTer?)
c.-69+2531del (n.-69+2531del)
 gnomAD v4
10g.49611730C>ACA469791410CHAT,SLC18A3c.990C>A (p.Ala330=)
c.-69+2531C>A (n.-69+2531C>A)
10g.49611730C>GCA469791413CHAT,SLC18A3c.990C>G (p.Ala330=)
c.-69+2531C>G (n.-69+2531C>G)
10g.49611730C>TCA469791411CHAT,SLC18A3c.990C>T (p.Ala330=)
c.-69+2531C>T (n.-69+2531C>T)
10g.49611731T>ACA376721627CHAT,SLC18A3c.991T>A (p.Trp331Arg)
c.-69+2532T>A (n.-69+2532T>A)
10g.49611731T>CCA376721630CHAT,SLC18A3c.991T>C (p.Trp331Arg)
c.-69+2532T>C (n.-69+2532T>C)
10g.49611731T>GCA376721632CHAT,SLC18A3c.991T>G (p.Trp331Gly)
c.-69+2532T>G (n.-69+2532T>G)
 gnomAD v4
10g.49611732G>ACA376721636CHAT,SLC18A3c.992G>A (p.Trp331Ter)
c.-69+2533G>A (n.-69+2533G>A)
10g.49611732G>CCA376721638CHAT,SLC18A3c.992G>C (p.Trp331Ser)
c.-69+2533G>C (n.-69+2533G>C)
10g.49611732G>TCA376721640CHAT,SLC18A3c.992G>T (p.Trp331Leu)
c.-69+2533G>T (n.-69+2533G>T)
 gnomAD v4
10g.49611733G>ACA376721646CHAT,SLC18A3c.993G>A (p.Trp331Ter)
c.-69+2534G>A (n.-69+2534G>A)
 gnomAD v4
10g.49611733G>CCA376721648CHAT,SLC18A3c.993G>C (p.Trp331Cys)
c.-69+2534G>C (n.-69+2534G>C)
10g.49611733G>TCA376721644CHAT,SLC18A3c.993G>T (p.Trp331Cys)
c.-69+2534G>T (n.-69+2534G>T)
 dbSNP gnomAD v3 gnomAD v4
10g.49611734C>ACA376721654CHAT,SLC18A3c.994C>A (p.Leu332Met)
c.-69+2535C>A (n.-69+2535C>A)
 gnomAD v4
10g.49611734C=CA1908794554CHAT,SLC18A3c.994C= (p.Leu332=)
c.-69+2535C= (n.-69+2535C=)
10g.49611734C>GCA376721652CHAT,SLC18A3c.994C>G (p.Leu332Val)
c.-69+2535C>G (n.-69+2535C>G)
10g.49611734C>TCA469791416CHAT,SLC18A3c.994C>T (p.Leu332=)
c.-69+2535C>T (n.-69+2535C>T)
 dbSNP gnomAD v2 gnomAD v4
10g.49611735T>ACA376721657CHAT,SLC18A3c.995T>A (p.Leu332Gln)
c.-69+2536T>A (n.-69+2536T>A)
10g.49611735T>CCA376721659CHAT,SLC18A3c.995T>C (p.Leu332Pro)
c.-69+2536T>C (n.-69+2536T>C)
10g.49611735T>GCA376721661CHAT,SLC18A3c.995T>G (p.Leu332Arg)
c.-69+2536T>G (n.-69+2536T>G)
10g.49611736G>ACA469791420CHAT,SLC18A3c.996G>A (p.Leu332=)
c.-69+2537G>A (n.-69+2537G>A)
 gnomAD v4
10g.49611736G>CCA469791421CHAT,SLC18A3c.996G>C (p.Leu332=)
c.-69+2537G>C (n.-69+2537G>C)
10g.49611736G>TCA469791422CHAT,SLC18A3c.996G>T (p.Leu332=)
c.-69+2537G>T (n.-69+2537G>T)
 gnomAD v4
10g.49611737C>ACA376721665CHAT,SLC18A3c.997C>A (p.Pro333Thr)
c.-69+2538C>A (n.-69+2538C>A)
10g.49611737C>GCA376721667CHAT,SLC18A3c.997C>G (p.Pro333Ala)
c.-69+2538C>G (n.-69+2538C>G)
10g.49611737C>TCA376721670CHAT,SLC18A3c.997C>T (p.Pro333Ser)
c.-69+2538C>T (n.-69+2538C>T)
 gnomAD v4
10g.49611738C>ACA376721672CHAT,SLC18A3c.998C>A (p.Pro333Gln)
c.-69+2539C>A (n.-69+2539C>A)
10g.49611738C=CA1908794559CHAT,SLC18A3c.998C= (p.Pro333=)
c.-69+2539C= (n.-69+2539C=)
10g.49611738C>GCA376721675CHAT,SLC18A3c.998C>G (p.Pro333Arg)
c.-69+2539C>G (n.-69+2539C>G)
 gnomAD v4
10g.49611738C>TCA376721676CHAT,SLC18A3c.998C>T (p.Pro333Leu)
c.-69+2539C>T (n.-69+2539C>T)
 dbSNP gnomAD v4
10g.49611739G>ACA469791431CHAT,SLC18A3c.999G>A (p.Pro333=)
c.-69+2540G>A (n.-69+2540G>A)
 ClinVar dbSNP gnomAD v3 gnomAD v4
10g.49611739G>CCA469791432CHAT,SLC18A3c.999G>C (p.Pro333=)
c.-69+2540G>C (n.-69+2540G>C)
10g.49611739G=CA1908794565CHAT,SLC18A3c.999G= (p.Pro333=)
c.-69+2540G= (n.-69+2540G=)
10g.49611739G>TCA469791430CHAT,SLC18A3c.999G>T (p.Pro333=)
c.-69+2540G>T (n.-69+2540G>T)
 dbSNP gnomAD v2 gnomAD v4
10g.49611740G>ACA376721680CHAT,SLC18A3c.1000G>A (p.Ala334Thr)
c.-69+2541G>A (n.-69+2541G>A)
 dbSNP COSMIC
10g.49611740G>CCA376721682CHAT,SLC18A3c.1000G>C (p.Ala334Pro)
c.-69+2541G>C (n.-69+2541G>C)
10g.49611740G=CA1908794567CHAT,SLC18A3c.1000G= (p.Ala334=)
c.-69+2541G= (n.-69+2541G=)
10g.49611740G>TCA376721684CHAT,SLC18A3c.1000G>T (p.Ala334Ser)
c.-69+2541G>T (n.-69+2541G>T)
 gnomAD v4
10g.49611741C>ACA376721691CHAT,SLC18A3c.1001C>A (p.Ala334Asp)
c.-69+2542C>A (n.-69+2542C>A)
 dbSNP
10g.49611741C=CA1908794571CHAT,SLC18A3c.1001C= (p.Ala334=)
c.-69+2542C= (n.-69+2542C=)
10g.49611741C>GCA376721687CHAT,SLC18A3c.1001C>G (p.Ala334Gly)
c.-69+2542C>G (n.-69+2542C>G)
10g.49611741C>TCA376721689CHAT,SLC18A3c.1001C>T (p.Ala334Val)
c.-69+2542C>T (n.-69+2542C>T)
 dbSNP gnomAD v2
10g.49611742C>ACA469791440CHAT,SLC18A3c.1002C>A (p.Ala334=)
c.-69+2543C>A (n.-69+2543C>A)
 gnomAD v4
10g.49611742C>GCA469791438CHAT,SLC18A3c.1002C>G (p.Ala334=)
c.-69+2543C>G (n.-69+2543C>G)
10g.49611742C>TCA469791436CHAT,SLC18A3c.1002C>T (p.Ala334=)
c.-69+2543C>T (n.-69+2543C>T)
10g.49611743_49611752delCA2609116831CHAT,SLC18A3c.1003_1012del (p.Phe335MetfsTer29)
c.-69+2544_-69+2553del (n.-69+2544_-69+2553del)
 gnomAD v4
10g.49611743T>ACA376721694CHAT,SLC18A3c.1003T>A (p.Phe335Ile)
c.-69+2544T>A (n.-69+2544T>A)
 dbSNP
10g.49611743T>CCA376721696CHAT,SLC18A3c.1003T>C (p.Phe335Leu)
c.-69+2544T>C (n.-69+2544T>C)
 gnomAD v4
10g.49611743T>GCA376721699CHAT,SLC18A3c.1003T>G (p.Phe335Val)
c.-69+2544T>G (n.-69+2544T>G)
10g.49611743T=CA1908794574CHAT,SLC18A3c.1003T= (p.Phe335=)
c.-69+2544T= (n.-69+2544T=)
10g.49611744T>ACA376721702CHAT,SLC18A3c.1004T>A (p.Phe335Tyr)
c.-69+2545T>A (n.-69+2545T>A)
10g.49611744T>CCA376721704CHAT,SLC18A3c.1004T>C (p.Phe335Ser)
c.-69+2545T>C (n.-69+2545T>C)
10g.49611744T>GCA376721706CHAT,SLC18A3c.1004T>G (p.Phe335Cys)
c.-69+2545T>G (n.-69+2545T>G)
 dbSNP gnomAD v2 gnomAD v4
10g.49611744T=CA1908794578CHAT,SLC18A3c.1004T= (p.Phe335=)
c.-69+2545T= (n.-69+2545T=)
10g.49611745C>ACA376721710CHAT,SLC18A3c.1005C>A (p.Phe335Leu)
c.-69+2546C>A (n.-69+2546C>A)
 dbSNP gnomAD v2 gnomAD v4
10g.49611745C=CA1908794581CHAT,SLC18A3c.1005C= (p.Phe335=)
c.-69+2546C= (n.-69+2546C=)
10g.49611745C>GCA376721712CHAT,SLC18A3c.1005C>G (p.Phe335Leu)
c.-69+2546C>G (n.-69+2546C>G)
10g.49611745C>TCA5496883CHAT,SLC18A3c.1005C>T (p.Phe335=)
c.-69+2546C>T (n.-69+2546C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
10g.49611746G>ACA376721717CHAT,SLC18A3c.1006G>A (p.Val336Met)
c.-69+2547G>A (n.-69+2547G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.49611746G>CCA206621334CHAT,SLC18A3c.1006G>C (p.Val336Leu)
c.-69+2547G>C (n.-69+2547G>C)
 dbSNP
10g.49611746G=CA1908794593CHAT,SLC18A3c.1006G= (p.Val336=)
c.-69+2547G= (n.-69+2547G=)
10g.49611746G>TCA376721721CHAT,SLC18A3c.1006G>T (p.Val336Leu)
c.-69+2547G>T (n.-69+2547G>T)
 gnomAD v4
10g.49611747T>ACA376721729CHAT,SLC18A3c.1007T>A (p.Val336Glu)
c.-69+2548T>A (n.-69+2548T>A)
10g.49611747T>CCA376721727CHAT,SLC18A3c.1007T>C (p.Val336Ala)
c.-69+2548T>C (n.-69+2548T>C)
 COSMIC
10g.49611747T>GCA376721725CHAT,SLC18A3c.1007T>G (p.Val336Gly)
c.-69+2548T>G (n.-69+2548T>G)
10g.49611748G>ACA5496884CHAT,SLC18A3c.1008G>A (p.Val336=)
c.-69+2549G>A (n.-69+2549G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.49611748G>CCA469791453CHAT,SLC18A3c.1008G>C (p.Val336=)
c.-69+2549G>C (n.-69+2549G>C)
10g.49611748G=CA1908794598CHAT,SLC18A3c.1008G= (p.Val336=)
c.-69+2549G= (n.-69+2549G=)
10g.49611748G>TCA469791456CHAT,SLC18A3c.1008G>T (p.Val336=)
c.-69+2549G>T (n.-69+2549G>T)
 gnomAD v4
10g.49611749C>ACA376721734CHAT,SLC18A3c.1009C>A (p.Pro337Thr)
c.-69+2550C>A (n.-69+2550C>A)
10g.49611749C>GCA376721735CHAT,SLC18A3c.1009C>G (p.Pro337Ala)
c.-69+2550C>G (n.-69+2550C>G)
10g.49611749C>TCA376721738CHAT,SLC18A3c.1009C>T (p.Pro337Ser)
c.-69+2550C>T (n.-69+2550C>T)
10g.49611750C>ACA376721741CHAT,SLC18A3c.1010C>A (p.Pro337His)
c.-69+2551C>A (n.-69+2551C>A)
10g.49611750C>GCA376721744CHAT,SLC18A3c.1010C>G (p.Pro337Arg)
c.-69+2551C>G (n.-69+2551C>G)
10g.49611750C>TCA376721746CHAT,SLC18A3c.1010C>T (p.Pro337Leu)
c.-69+2551C>T (n.-69+2551C>T)
10g.49611751delCA2549650053CHAT,SLC18A3c.1011del (p.His338MetfsTer29)
c.-69+2552del (n.-69+2552del)
10g.49611751T>ACA469791462CHAT,SLC18A3c.1011T>A (p.Pro337=)
c.-69+2552T>A (n.-69+2552T>A)
10g.49611751T>CCA469791464CHAT,SLC18A3c.1011T>C (p.Pro337=)
c.-69+2552T>C (n.-69+2552T>C)
10g.49611751T>GCA469791460CHAT,SLC18A3c.1011T>G (p.Pro337=)
c.-69+2552T>G (n.-69+2552T>G)
10g.49611752C>ACA376721753CHAT,SLC18A3c.1012C>A (p.His338Asn)
c.-69+2553C>A (n.-69+2553C>A)
 gnomAD v4
10g.49611752C>GCA376721749CHAT,SLC18A3c.1012C>G (p.His338Asp)
c.-69+2553C>G (n.-69+2553C>G)
10g.49611752C>TCA376721751CHAT,SLC18A3c.1012C>T (p.His338Tyr)
c.-69+2553C>T (n.-69+2553C>T)
10g.49611753A>CCA376721756CHAT,SLC18A3c.1013A>C (p.His338Pro)
c.-69+2554A>C (n.-69+2554A>C)
 gnomAD v4
10g.49611753A>GCA376721758CHAT,SLC18A3c.1013A>G (p.His338Arg)
c.-69+2554A>G (n.-69+2554A>G)
10g.49611753A>TCA376721760CHAT,SLC18A3c.1013A>T (p.His338Leu)
c.-69+2554A>T (n.-69+2554A>T)
10g.49611754T>ACA376721763CHAT,SLC18A3c.1014T>A (p.His338Gln)
c.-69+2555T>A (n.-69+2555T>A)
10g.49611754T>CCA469791469CHAT,SLC18A3c.1014T>C (p.His338=)
c.-69+2555T>C (n.-69+2555T>C)
10g.49611754T>GCA376721765CHAT,SLC18A3c.1014T>G (p.His338Gln)
c.-69+2555T>G (n.-69+2555T>G)
10g.49611755G>ACA376721769CHAT,SLC18A3c.1015G>A (p.Val339Met)
c.-69+2556G>A (n.-69+2556G>A)
 gnomAD v4
10g.49611755G>CCA376721773CHAT,SLC18A3c.1015G>C (p.Val339Leu)
c.-69+2556G>C (n.-69+2556G>C)
 dbSNP gnomAD v2
10g.49611755G=CA1908794601CHAT,SLC18A3c.1015G= (p.Val339=)
c.-69+2556G= (n.-69+2556G=)
10g.49611755G>TCA376721771CHAT,SLC18A3c.1015G>T (p.Val339Leu)
c.-69+2556G>T (n.-69+2556G>T)
10g.49611756T>ACA376721776CHAT,SLC18A3c.1016T>A (p.Val339Glu)
c.-69+2557T>A (n.-69+2557T>A)
10g.49611756T>CCA376721778CHAT,SLC18A3c.1016T>C (p.Val339Ala)
c.-69+2557T>C (n.-69+2557T>C)
 dbSNP
10g.49611756T>GCA376721781CHAT,SLC18A3c.1016T>G (p.Val339Gly)
c.-69+2557T>G (n.-69+2557T>G)
10g.49611756T=CA1908794606CHAT,SLC18A3c.1016T= (p.Val339=)
c.-69+2557T= (n.-69+2557T=)
10g.49611757G>ACA469791479CHAT,SLC18A3c.1017G>A (p.Val339=)
c.-69+2558G>A (n.-69+2558G>A)
 gnomAD v4
10g.49611757G>CCA469791478CHAT,SLC18A3c.1017G>C (p.Val339=)
c.-69+2558G>C (n.-69+2558G>C)
10g.49611757G=CA1908794611CHAT,SLC18A3c.1017G= (p.Val339=)
c.-69+2558G= (n.-69+2558G=)
10g.49611757G>TCA469791477CHAT,SLC18A3c.1017G>T (p.Val339=)
c.-69+2558G>T (n.-69+2558G>T)
 dbSNP gnomAD v2 gnomAD v4
10g.49611758C>ACA376721784CHAT,SLC18A3c.1018C>A (p.Leu340Met)
c.-69+2559C>A (n.-69+2559C>A)
 gnomAD v4
10g.49611758C>GCA376721786CHAT,SLC18A3c.1018C>G (p.Leu340Val)
c.-69+2559C>G (n.-69+2559C>G)
10g.49611758C>TCA469791480CHAT,SLC18A3c.1018C>T (p.Leu340=)
c.-69+2559C>T (n.-69+2559C>T)
10g.49611759T>ACA376721790CHAT,SLC18A3c.1019T>A (p.Leu340Gln)
c.-69+2560T>A (n.-69+2560T>A)
10g.49611759T>CCA376721791CHAT,SLC18A3c.1019T>C (p.Leu340Pro)
c.-69+2560T>C (n.-69+2560T>C)
10g.49611759T>GCA376721794CHAT,SLC18A3c.1019T>G (p.Leu340Arg)
c.-69+2560T>G (n.-69+2560T>G)
10g.49611759_49611761delinsTGGCA1908794616CHAT,SLC18A3c.1019_1021delinsTGG (p.Leu340=)
c.-69+2560_-69+2562delinsTGG (n.-69+2560_-69+2562delinsTGG)
10g.49611760G>ACA469791485CHAT,SLC18A3c.1020G>A (p.Leu340=)
c.-69+2561G>A (n.-69+2561G>A)
10g.49611760G>CCA469791487CHAT,SLC18A3c.1020G>C (p.Leu340=)
c.-69+2561G>C (n.-69+2561G>C)
10g.49611760G>TCA469791486CHAT,SLC18A3c.1020G>T (p.Leu340=)
c.-69+2561G>T (n.-69+2561G>T)
10g.49611761_49611762delCA5496885CHAT,SLC18A3c.1021_1022del (p.Gly341ArgfsTer?)
c.-69+2562_-69+2563del (n.-69+2562_-69+2563del)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.49611761G>ACA376721800CHAT,SLC18A3c.1021G>A (p.Gly341Ser)
c.-69+2562G>A (n.-69+2562G>A)
10g.49611761G>CCA376721802CHAT,SLC18A3c.1021G>C (p.Gly341Arg)
c.-69+2562G>C (n.-69+2562G>C)
10g.49611761G=CA1908794623CHAT,SLC18A3c.1021G= (p.Gly341=)
c.-69+2562G= (n.-69+2562G=)
10g.49611761G>TCA376721804CHAT,SLC18A3c.1021G>T (p.Gly341Cys)
c.-69+2562G>T (n.-69+2562G>T)
10g.49611761_49611762insACCTCATCA5496886CHAT,SLC18A3c.1021_1022insACCTCAT (p.Gly341AspfsTer?)
c.-69+2562_-69+2563insACCTCAT (n.-69+2562_-69+2563insACCTCAT)
 dbSNP ExAC gnomAD v2
10g.49611762G>ACA376721812CHAT,SLC18A3c.1022G>A (p.Gly341Asp)
c.-69+2563G>A (n.-69+2563G>A)
 dbSNP
10g.49611762G>CCA376721814CHAT,SLC18A3c.1022G>C (p.Gly341Ala)
c.-69+2563G>C (n.-69+2563G>C)
10g.49611762G=CA1908794629CHAT,SLC18A3c.1022G= (p.Gly341=)
c.-69+2563G= (n.-69+2563G=)
10g.49611762G>TCA376721808CHAT,SLC18A3c.1022G>T (p.Gly341Val)
c.-69+2563G>T (n.-69+2563G>T)
10g.49611763C>ACA469791490CHAT,SLC18A3c.1023C>A (p.Gly341=)
c.-69+2564C>A (n.-69+2564C>A)
 dbSNP gnomAD v2 gnomAD v4
10g.49611763C=CA1908794635CHAT,SLC18A3c.1023C= (p.Gly341=)
c.-69+2564C= (n.-69+2564C=)
10g.49611763C>GCA469791491CHAT,SLC18A3c.1023C>G (p.Gly341=)
c.-69+2564C>G (n.-69+2564C>G)
10g.49611763C>TCA469791488CHAT,SLC18A3c.1023C>T (p.Gly341=)
c.-69+2564C>T (n.-69+2564C>T)
 dbSNP gnomAD v2 gnomAD v4 COSMIC
10g.49611764G>ACA376721820CHAT,SLC18A3c.1024G>A (p.Val342Ile)
c.-69+2565G>A (n.-69+2565G>A)
 gnomAD v4 COSMIC
10g.49611764G>CCA376721816CHAT,SLC18A3c.1024G>C (p.Val342Leu)
c.-69+2565G>C (n.-69+2565G>C)
10g.49611764G>TCA376721817CHAT,SLC18A3c.1024G>T (p.Val342Phe)
c.-69+2565G>T (n.-69+2565G>T)
10g.49611764_49611765insAAAAACCA2787933826CHAT,SLC18A3c.1024_1025insAAAAAC (p.Val342delinsGluLysLeu)
c.-69+2565_-69+2566insAAAAAC (n.-69+2565_-69+2566insAAAAAC)
10g.49611765T>ACA376721823CHAT,SLC18A3c.1025T>A (p.Val342Asp)
c.-69+2566T>A (n.-69+2566T>A)
10g.49611765T>CCA376721826CHAT,SLC18A3c.1025T>C (p.Val342Ala)
c.-69+2566T>C (n.-69+2566T>C)
10g.49611765T>GCA376721828CHAT,SLC18A3c.1025T>G (p.Val342Gly)
c.-69+2566T>G (n.-69+2566T>G)
10g.49611766C>ACA469791496CHAT,SLC18A3c.1026C>A (p.Val342=)
c.-69+2567C>A (n.-69+2567C>A)
10g.49611766C>GCA469791495CHAT,SLC18A3c.1026C>G (p.Val342=)
c.-69+2567C>G (n.-69+2567C>G)
 COSMIC
10g.49611766C>TCA469791494CHAT,SLC18A3c.1026C>T (p.Val342=)
c.-69+2567C>T (n.-69+2567C>T)
 dbSNP gnomAD v3 gnomAD v4
10g.49611767T>ACA376721832CHAT,SLC18A3c.1027T>A (p.Tyr343Asn)
c.-69+2568T>A (n.-69+2568T>A)
10g.49611767T>CCA376721834CHAT,SLC18A3c.1027T>C (p.Tyr343His)
c.-69+2568T>C (n.-69+2568T>C)
10g.49611767T>GCA376721836CHAT,SLC18A3c.1027T>G (p.Tyr343Asp)
c.-69+2568T>G (n.-69+2568T>G)
10g.49611768A=CA1908794639CHAT,SLC18A3c.1028A= (p.Tyr343=)
c.-69+2569A= (n.-69+2569A=)
10g.49611768A>CCA376721840CHAT,SLC18A3c.1028A>C (p.Tyr343Ser)
c.-69+2569A>C (n.-69+2569A>C)
 dbSNP
10g.49611768A>GCA376721842CHAT,SLC18A3c.1028A>G (p.Tyr343Cys)
c.-69+2569A>G (n.-69+2569A>G)
10g.49611768A>TCA376721845CHAT,SLC18A3c.1028A>T (p.Tyr343Phe)
c.-69+2569A>T (n.-69+2569A>T)
10g.49611769C>ACA376721847CHAT,SLC18A3c.1029C>A (p.Tyr343Ter)
c.-69+2570C>A (n.-69+2570C>A)
10g.49611769C=CA1908794644CHAT,SLC18A3c.1029C= (p.Tyr343=)
c.-69+2570C= (n.-69+2570C=)
10g.49611769C>GCA376721849CHAT,SLC18A3c.1029C>G (p.Tyr343Ter)
c.-69+2570C>G (n.-69+2570C>G)
10g.49611769C>TCA469791499CHAT,SLC18A3c.1029C>T (p.Tyr343=)
c.-69+2570C>T (n.-69+2570C>T)
 dbSNP gnomAD v4
10g.49611770C>ACA376721853CHAT,SLC18A3c.1030C>A (p.Leu344Ile)
c.-69+2571C>A (n.-69+2571C>A)
10g.49611770C=CA1908794648CHAT,SLC18A3c.1030C= (p.Leu344=)
c.-69+2571C= (n.-69+2571C=)
10g.49611770C>GCA5496887CHAT,SLC18A3c.1030C>G (p.Leu344Val)
c.-69+2571C>G (n.-69+2571C>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.49611770C>TCA376721854CHAT,SLC18A3c.1030C>T (p.Leu344Phe)
c.-69+2571C>T (n.-69+2571C>T)
 gnomAD v4
10g.49611771T>ACA376721858CHAT,SLC18A3c.1031T>A (p.Leu344His)
c.-69+2572T>A (n.-69+2572T>A)
10g.49611771T>CCA376721860CHAT,SLC18A3c.1031T>C (p.Leu344Pro)
c.-69+2572T>C (n.-69+2572T>C)
10g.49611771T>GCA376721862CHAT,SLC18A3c.1031T>G (p.Leu344Arg)
c.-69+2572T>G (n.-69+2572T>G)
10g.49611772C>ACA469791505CHAT,SLC18A3c.1032C>A (p.Leu344=)
c.-69+2573C>A (n.-69+2573C>A)
10g.49611772C=CA1908794653CHAT,SLC18A3c.1032C= (p.Leu344=)
c.-69+2573C= (n.-69+2573C=)
10g.49611772C>GCA469791506CHAT,SLC18A3c.1032C>G (p.Leu344=)
c.-69+2573C>G (n.-69+2573C>G)
10g.49611772C>TCA206621341CHAT,SLC18A3c.1032C>T (p.Leu344=)
c.-69+2573C>T (n.-69+2573C>T)
 dbSNP gnomAD v4
10g.49611773A=CA1908794658CHAT,SLC18A3c.1033A= (p.Thr345=)
c.-69+2574A= (n.-69+2574A=)
10g.49611773A>CCA376721865CHAT,SLC18A3c.1033A>C (p.Thr345Pro)
c.-69+2574A>C (n.-69+2574A>C)
 dbSNP
10g.49611773A>GCA376721867CHAT,SLC18A3c.1033A>G (p.Thr345Ala)
c.-69+2574A>G (n.-69+2574A>G)
 ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC
10g.49611773A>TCA376721869CHAT,SLC18A3c.1033A>T (p.Thr345Ser)
c.-69+2574A>T (n.-69+2574A>T)
10g.49611774C>ACA376721871CHAT,SLC18A3c.1034C>A (p.Thr345Asn)
c.-69+2575C>A (n.-69+2575C>A)
10g.49611774C=CA1908794665CHAT,SLC18A3c.1034C= (p.Thr345=)
c.-69+2575C= (n.-69+2575C=)
10g.49611774C>GCA5496888CHAT,SLC18A3c.1034C>G (p.Thr345Ser)
c.-69+2575C>G (n.-69+2575C>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.49611774C>TCA376721874CHAT,SLC18A3c.1034C>T (p.Thr345Ile)
c.-69+2575C>T (n.-69+2575C>T)
 ClinVar dbSNP gnomAD v4
10g.49611775C>ACA469791515CHAT,SLC18A3c.1035C>A (p.Thr345=)
c.-69+2576C>A (n.-69+2576C>A)
 gnomAD v4
10g.49611775C=CA1908794673CHAT,SLC18A3c.1035C= (p.Thr345=)
c.-69+2576C= (n.-69+2576C=)
10g.49611775C>GCA5496889CHAT,SLC18A3c.1035C>G (p.Thr345=)
c.-69+2576C>G (n.-69+2576C>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.49611775C>TCA469791514CHAT,SLC18A3c.1035C>T (p.Thr345=)
c.-69+2576C>T (n.-69+2576C>T)
 dbSNP gnomAD v2 gnomAD v4
10g.49611776G>ACA376721880CHAT,SLC18A3c.1036G>A (p.Val346Met)
c.-69+2577G>A (n.-69+2577G>A)
10g.49611776G>CCA376721881CHAT,SLC18A3c.1036G>C (p.Val346Leu)
c.-69+2577G>C (n.-69+2577G>C)
 dbSNP gnomAD v2 gnomAD v4
10g.49611776G=CA1908794680CHAT,SLC18A3c.1036G= (p.Val346=)
c.-69+2577G= (n.-69+2577G=)
10g.49611776G>TCA376721878CHAT,SLC18A3c.1036G>T (p.Val346Leu)
c.-69+2577G>T (n.-69+2577G>T)
10g.49611777T>ACA376721884CHAT,SLC18A3c.1037T>A (p.Val346Glu)
c.-69+2578T>A (n.-69+2578T>A)
10g.49611777T>CCA5496890CHAT,SLC18A3c.1037T>C (p.Val346Ala)
c.-69+2578T>C (n.-69+2578T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.49611777T>GCA376721887CHAT,SLC18A3c.1037T>G (p.Val346Gly)
c.-69+2578T>G (n.-69+2578T>G)
10g.49611777T=CA1908794686CHAT,SLC18A3c.1037T= (p.Val346=)
c.-69+2578T= (n.-69+2578T=)
10g.49611778G>ACA469791523CHAT,SLC18A3c.1038G>A (p.Val346=)
c.-69+2579G>A (n.-69+2579G>A)
10g.49611778G>CCA469791525CHAT,SLC18A3c.1038G>C (p.Val346=)
c.-69+2579G>C (n.-69+2579G>C)
10g.49611778G>TCA469791524CHAT,SLC18A3c.1038G>T (p.Val346=)
c.-69+2579G>T (n.-69+2579G>T)
10g.49611779C>ACA376721890CHAT,SLC18A3c.1039C>A (p.Arg347Ser)
c.-69+2580C>A (n.-69+2580C>A)
 gnomAD v4
10g.49611779C>GCA376721892CHAT,SLC18A3c.1039C>G (p.Arg347Gly)
c.-69+2580C>G (n.-69+2580C>G)
10g.49611779C>TCA376721893CHAT,SLC18A3c.1039C>T (p.Arg347Cys)
c.-69+2580C>T (n.-69+2580C>T)
 gnomAD v4
10g.49611780G>ACA376721900CHAT,SLC18A3c.1040G>A (p.Arg347His)
c.-69+2581G>A (n.-69+2581G>A)
 gnomAD v4 COSMIC
10g.49611780G>CCA376721896CHAT,SLC18A3c.1040G>C (p.Arg347Pro)
c.-69+2581G>C (n.-69+2581G>C)
 dbSNP gnomAD v2 gnomAD v4
10g.49611780G=CA1908794691CHAT,SLC18A3c.1040G= (p.Arg347=)
c.-69+2581G= (n.-69+2581G=)
10g.49611780G>TCA206621352CHAT,SLC18A3c.1040G>T (p.Arg347Leu)
c.-69+2581G>T (n.-69+2581G>T)
 ClinVar dbSNP gnomAD v4
10g.49611781C>ACA469791530CHAT,SLC18A3c.1041C>A (p.Arg347=)
c.-69+2582C>A (n.-69+2582C>A)
10g.49611781C>GCA469791529CHAT,SLC18A3c.1041C>G (p.Arg347=)
c.-69+2582C>G (n.-69+2582C>G)
10g.49611781C>TCA469791531CHAT,SLC18A3c.1041C>T (p.Arg347=)
c.-69+2582C>T (n.-69+2582C>T)
 gnomAD v4
10g.49611782C>ACA376721902CHAT,SLC18A3c.1042C>A (p.Leu348Met)
c.-69+2583C>A (n.-69+2583C>A)
10g.49611782C=CA1908794697CHAT,SLC18A3c.1042C= (p.Leu348=)
c.-69+2583C= (n.-69+2583C=)
10g.49611782C>GCA376721904CHAT,SLC18A3c.1042C>G (p.Leu348Val)
c.-69+2583C>G (n.-69+2583C>G)
10g.49611782C>TCA469791533CHAT,SLC18A3c.1042C>T (p.Leu348=)
c.-69+2583C>T (n.-69+2583C>T)
 dbSNP gnomAD v2
10g.49611782_49611783insGCA2609116959CHAT,SLC18A3c.1042_1043insG (p.Leu348ArgfsTer?)
c.-69+2583_-69+2584insG (n.-69+2583_-69+2584insG)
 gnomAD v4
10g.49611783T>ACA376721905CHAT,SLC18A3c.1043T>A (p.Leu348Gln)
c.-69+2584T>A (n.-69+2584T>A)
10g.49611783T>CCA376721907CHAT,SLC18A3c.1043T>C (p.Leu348Pro)
c.-69+2584T>C (n.-69+2584T>C)
10g.49611783T>GCA376721909CHAT,SLC18A3c.1043T>G (p.Leu348Arg)
c.-69+2584T>G (n.-69+2584T>G)
10g.49611784G>ACA469791540CHAT,SLC18A3c.1044G>A (p.Leu348=)
c.-69+2585G>A (n.-69+2585G>A)
 ClinVar dbSNP gnomAD v2 gnomAD v4
10g.49611784G>CCA469791544CHAT,SLC18A3c.1044G>C (p.Leu348=)
c.-69+2585G>C (n.-69+2585G>C)
 dbSNP
10g.49611784G=CA1908794705CHAT,SLC18A3c.1044G= (p.Leu348=)
c.-69+2585G= (n.-69+2585G=)
10g.49611784G>TCA469791541CHAT,SLC18A3c.1044G>T (p.Leu348=)
c.-69+2585G>T (n.-69+2585G>T)
 gnomAD v4
10g.49611784_49611800delCA2609116975CHAT,SLC18A3c.1044_1060del (p.Ala349ProfsTer?)
c.-69+2585_-69+2601del (n.-69+2585_-69+2601del)
 gnomAD v4
10g.49611785G>ACA376721912CHAT,SLC18A3c.1045G>A (p.Ala349Thr)
c.-69+2586G>A (n.-69+2586G>A)
10g.49611785G>CCA376721916CHAT,SLC18A3c.1045G>C (p.Ala349Pro)
c.-69+2586G>C (n.-69+2586G>C)
10g.49611785G>TCA376721914CHAT,SLC18A3c.1045G>T (p.Ala349Ser)
c.-69+2586G>T (n.-69+2586G>T)
 gnomAD v4
10g.49611786C>ACA376721920CHAT,SLC18A3c.1046C>A (p.Ala349Glu)
c.-69+2587C>A (n.-69+2587C>A)
 gnomAD v4
10g.49611786C=CA1908794710CHAT,SLC18A3c.1046C= (p.Ala349=)
c.-69+2587C= (n.-69+2587C=)
10g.49611786C>GCA376721922CHAT,SLC18A3c.1046C>G (p.Ala349Gly)
c.-69+2587C>G (n.-69+2587C>G)
10g.49611786C>TCA376721924CHAT,SLC18A3c.1046C>T (p.Ala349Val)
c.-69+2587C>T (n.-69+2587C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
10g.49611787G>ACA469791546CHAT,SLC18A3c.1047G>A (p.Ala349=)
c.-69+2588G>A (n.-69+2588G>A)
10g.49611787G>CCA469791547CHAT,SLC18A3c.1047G>C (p.Ala349=)
c.-69+2588G>C (n.-69+2588G>C)
10g.49611787G>TCA469791545CHAT,SLC18A3c.1047G>T (p.Ala349=)
c.-69+2588G>T (n.-69+2588G>T)
 gnomAD v4
10g.49611788G>ACA376721927CHAT,SLC18A3c.1048G>A (p.Ala350Thr)
c.-69+2589G>A (n.-69+2589G>A)
10g.49611788G>CCA376721930CHAT,SLC18A3c.1048G>C (p.Ala350Pro)
c.-69+2589G>C (n.-69+2589G>C)
10g.49611788G>TCA376721932CHAT,SLC18A3c.1048G>T (p.Ala350Ser)
c.-69+2589G>T (n.-69+2589G>T)
 gnomAD v4
10g.49611789C>ACA206621357CHAT,SLC18A3c.1049C>A (p.Ala350Glu)
c.-69+2590C>A (n.-69+2590C>A)
 dbSNP
10g.49611789C=CA1908794718CHAT,SLC18A3c.1049C= (p.Ala350=)
c.-69+2590C= (n.-69+2590C=)
10g.49611789C>GCA376721937CHAT,SLC18A3c.1049C>G (p.Ala350Gly)
c.-69+2590C>G (n.-69+2590C>G)
10g.49611789C>TCA5496891CHAT,SLC18A3c.1049C>T (p.Ala350Val)
c.-69+2590C>T (n.-69+2590C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.49611790G>ACA5496892CHAT,SLC18A3c.1050G>A (p.Ala350=)
c.-69+2591G>A (n.-69+2591G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
10g.49611790G>CCA469791558CHAT,SLC18A3c.1050G>C (p.Ala350=)
c.-69+2591G>C (n.-69+2591G>C)
10g.49611790G=CA1908794724CHAT,SLC18A3c.1050G= (p.Ala350=)
c.-69+2591G= (n.-69+2591G=)
10g.49611790G>TCA469791557CHAT,SLC18A3c.1050G>T (p.Ala350=)
c.-69+2591G>T (n.-69+2591G>T)
 dbSNP gnomAD v2 gnomAD v4
10g.49611791C>ACA376721943CHAT,SLC18A3c.1051C>A (p.Arg351Ser)
c.-69+2592C>A (n.-69+2592C>A)
10g.49611791C>GCA376721945CHAT,SLC18A3c.1051C>G (p.Arg351Gly)
c.-69+2592C>G (n.-69+2592C>G)
10g.49611791C>TCA376721946CHAT,SLC18A3c.1051C>T (p.Arg351Cys)
c.-69+2592C>T (n.-69+2592C>T)
10g.49611792G>ACA376721948CHAT,SLC18A3c.1052G>A (p.Arg351His)
c.-69+2593G>A (n.-69+2593G>A)
 dbSNP gnomAD v4
10g.49611792G>CCA376721949CHAT,SLC18A3c.1052G>C (p.Arg351Pro)
c.-69+2593G>C (n.-69+2593G>C)
10g.49611792G=CA1908794730CHAT,SLC18A3c.1052G= (p.Arg351=)
c.-69+2593G= (n.-69+2593G=)
10g.49611792G>TCA376721947CHAT,SLC18A3c.1052G>T (p.Arg351Leu)
c.-69+2593G>T (n.-69+2593G>T)
 gnomAD v4
10g.49611793C>ACA469791564CHAT,SLC18A3c.1053C>A (p.Arg351=)
c.-69+2594C>A (n.-69+2594C>A)
10g.49611793C>GCA469791565CHAT,SLC18A3c.1053C>G (p.Arg351=)
c.-69+2594C>G (n.-69+2594C>G)
10g.49611793C>TCA469791566CHAT,SLC18A3c.1053C>T (p.Arg351=)
c.-69+2594C>T (n.-69+2594C>T)
10g.49611794T>ACA376721951CHAT,SLC18A3c.1054T>A (p.Tyr352Asn)
c.-69+2595T>A (n.-69+2595T>A)
10g.49611794T>CCA376721950CHAT,SLC18A3c.1054T>C (p.Tyr352His)
c.-69+2595T>C (n.-69+2595T>C)
10g.49611794T>GCA376721952CHAT,SLC18A3c.1054T>G (p.Tyr352Asp)
c.-69+2595T>G (n.-69+2595T>G)
10g.49611795A>CCA376721953CHAT,SLC18A3c.1055A>C (p.Tyr352Ser)
c.-69+2596A>C (n.-69+2596A>C)
10g.49611795A>GCA376721955CHAT,SLC18A3c.1055A>G (p.Tyr352Cys)
c.-69+2596A>G (n.-69+2596A>G)
 gnomAD v4
10g.49611795A>TCA376721954CHAT,SLC18A3c.1055A>T (p.Tyr352Phe)
c.-69+2596A>T (n.-69+2596A>T)
10g.49611796C>ACA376721956CHAT,SLC18A3c.1056C>A (p.Tyr352Ter)
c.-69+2597C>A (n.-69+2597C>A)
10g.49611796C>GCA376721957CHAT,SLC18A3c.1056C>G (p.Tyr352Ter)
c.-69+2597C>G (n.-69+2597C>G)
10g.49611796C>TCA469791569CHAT,SLC18A3c.1056C>T (p.Tyr352=)
c.-69+2597C>T (n.-69+2597C>T)
 gnomAD v4
10g.49611798delCA645559474CHAT,SLC18A3c.1058del (p.Pro353HisfsTer14)
c.-69+2599del (n.-69+2599del)
 COSMIC
10g.49611796_49611801delinsCCCACACA1908794736CHAT,SLC18A3c.1056_1061delinsCCCACA (p.Tyr352=)
c.-69+2597_-69+2602delinsCCCACA (n.-69+2597_-69+2602delinsCCCACA)
10g.49611797C>ACA376721958CHAT,SLC18A3c.1057C>A (p.Pro353Thr)
c.-69+2598C>A (n.-69+2598C>A)
10g.49611797C>GCA376721959CHAT,SLC18A3c.1057C>G (p.Pro353Ala)
c.-69+2598C>G (n.-69+2598C>G)
10g.49611797C>TCA376721960CHAT,SLC18A3c.1057C>T (p.Pro353Ser)
c.-69+2598C>T (n.-69+2598C>T)
10g.49611799_49611803delCA5496893CHAT,SLC18A3c.1059_1063del (p.His354AlafsTer?)
c.-69+2600_-69+2604del (n.-69+2600_-69+2604del)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.49611798C>ACA376721963CHAT,SLC18A3c.1058C>A (p.Pro353Gln)
c.-69+2599C>A (n.-69+2599C>A)
10g.49611798C>GCA376721961CHAT,SLC18A3c.1058C>G (p.Pro353Arg)
c.-69+2599C>G (n.-69+2599C>G)
10g.49611798C>TCA376721962CHAT,SLC18A3c.1058C>T (p.Pro353Leu)
c.-69+2599C>T (n.-69+2599C>T)
10g.49611799A=CA1908794740CHAT,SLC18A3c.1059A= (p.Pro353=)
c.-69+2600A= (n.-69+2600A=)
10g.49611799A>CCA469791583CHAT,SLC18A3c.1059A>C (p.Pro353=)
c.-69+2600A>C (n.-69+2600A>C)
 dbSNP gnomAD v4
10g.49611799A>GCA469791585CHAT,SLC18A3c.1059A>G (p.Pro353=)
c.-69+2600A>G (n.-69+2600A>G)
 dbSNP gnomAD v2 gnomAD v4
10g.49611799A>TCA469791584CHAT,SLC18A3c.1059A>T (p.Pro353=)
c.-69+2600A>T (n.-69+2600A>T)
10g.49611800C>ACA376721964CHAT,SLC18A3c.1060C>A (p.His354Asn)
c.-69+2601C>A (n.-69+2601C>A)
10g.49611800C>GCA376721965CHAT,SLC18A3c.1060C>G (p.His354Asp)
c.-69+2601C>G (n.-69+2601C>G)
10g.49611800C>TCA376721966CHAT,SLC18A3c.1060C>T (p.His354Tyr)
c.-69+2601C>T (n.-69+2601C>T)
10g.49611801A=CA1908794744CHAT,SLC18A3c.1061A= (p.His354=)
c.-69+2602A= (n.-69+2602A=)
10g.49611801A>CCA5496894CHAT,SLC18A3c.1061A>C (p.His354Pro)
c.-69+2602A>C (n.-69+2602A>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.49611801A>GCA376721967CHAT,SLC18A3c.1061A>G (p.His354Arg)
c.-69+2602A>G (n.-69+2602A>G)
10g.49611801A>TCA376721968CHAT,SLC18A3c.1061A>T (p.His354Leu)
c.-69+2602A>T (n.-69+2602A>T)
10g.49611802C>ACA376721969CHAT,SLC18A3c.1062C>A (p.His354Gln)
c.-69+2603C>A (n.-69+2603C>A)
10g.49611802C=CA1908794751CHAT,SLC18A3c.1062C= (p.His354=)
c.-69+2603C= (n.-69+2603C=)
10g.49611802C>GCA376721970CHAT,SLC18A3c.1062C>G (p.His354Gln)
c.-69+2603C>G (n.-69+2603C>G)
10g.49611802C>TCA5496895CHAT,SLC18A3c.1062C>T (p.His354=)
c.-69+2603C>T (n.-69+2603C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.49611803C>ACA376721972CHAT,SLC18A3c.1063C>A (p.Leu355Met)
c.-69+2604C>A (n.-69+2604C>A)
10g.49611803C=CA1908794752CHAT,SLC18A3c.1063C= (p.Leu355=)
c.-69+2604C= (n.-69+2604C=)
10g.49611803C>GCA376721971CHAT,SLC18A3c.1063C>G (p.Leu355Val)
c.-69+2604C>G (n.-69+2604C>G)
 ClinVar dbSNP gnomAD v2 gnomAD v4
10g.49611803C>TCA469791343CHAT,SLC18A3c.1063C>T (p.Leu355=)
c.-69+2604C>T (n.-69+2604C>T)
 ClinVar dbSNP gnomAD v3 gnomAD v4
10g.49611804T>ACA376721973CHAT,SLC18A3c.1064T>A (p.Leu355Gln)
c.-69+2605T>A (n.-69+2605T>A)
10g.49611804T>CCA376721974CHAT,SLC18A3c.1064T>C (p.Leu355Pro)
c.-69+2605T>C (n.-69+2605T>C)
10g.49611804T>GCA376721975CHAT,SLC18A3c.1064T>G (p.Leu355Arg)
c.-69+2605T>G (n.-69+2605T>G)
 gnomAD v4
10g.49611805G>ACA469791353CHAT,SLC18A3c.1065G>A (p.Leu355=)
c.-69+2606G>A (n.-69+2606G>A)
10g.49611805G>CCA469791352CHAT,SLC18A3c.1065G>C (p.Leu355=)
c.-69+2606G>C (n.-69+2606G>C)
10g.49611805G>TCA469791351CHAT,SLC18A3c.1065G>T (p.Leu355=)
c.-69+2606G>T (n.-69+2606G>T)
 gnomAD v4
10g.49611806delCA2609117023CHAT,SLC18A3c.1066del (p.Gln356SerfsTer11)
c.-69+2607del (n.-69+2607del)
 gnomAD v4
10g.49611806C>ACA376721976CHAT,SLC18A3c.1066C>A (p.Gln356Lys)
c.-69+2607C>A (n.-69+2607C>A)
 gnomAD v4
10g.49611806C>GCA376721977CHAT,SLC18A3c.1066C>G (p.Gln356Glu)
c.-69+2607C>G (n.-69+2607C>G)
10g.49611806C>TCA376721978CHAT,SLC18A3c.1066C>T (p.Gln356Ter)
c.-69+2607C>T (n.-69+2607C>T)
 gnomAD v4
10g.49611807A>CCA376721979CHAT,SLC18A3c.1067A>C (p.Gln356Pro)
c.-69+2608A>C (n.-69+2608A>C)
10g.49611807A>GCA376721980CHAT,SLC18A3c.1067A>G (p.Gln356Arg)
c.-69+2608A>G (n.-69+2608A>G)
10g.49611807A>TCA376721981CHAT,SLC18A3c.1067A>T (p.Gln356Leu)
c.-69+2608A>T (n.-69+2608A>T)
10g.49611808G>ACA469791357CHAT,SLC18A3c.1068G>A (p.Gln356=)
c.-69+2609G>A (n.-69+2609G>A)
10g.49611808G>CCA376721982CHAT,SLC18A3c.1068G>C (p.Gln356His)
c.-69+2609G>C (n.-69+2609G>C)
10g.49611808G>TCA376721983CHAT,SLC18A3c.1068G>T (p.Gln356His)
c.-69+2609G>T (n.-69+2609G>T)
10g.49611809T>ACA376721986CHAT,SLC18A3c.1069T>A (p.Trp357Arg)
c.-69+2610T>A (n.-69+2610T>A)
10g.49611809T>CCA376721985CHAT,SLC18A3c.1069T>C (p.Trp357Arg)
c.-69+2610T>C (n.-69+2610T>C)
10g.49611809T>GCA376721984CHAT,SLC18A3c.1069T>G (p.Trp357Gly)
c.-69+2610T>G (n.-69+2610T>G)
 dbSNP gnomAD v3 gnomAD v4
10g.49611809T=CA1908794755CHAT,SLC18A3c.1069T= (p.Trp357=)
c.-69+2610T= (n.-69+2610T=)
10g.49611810G>ACA376721987CHAT,SLC18A3c.1070G>A (p.Trp357Ter)
c.-69+2611G>A (n.-69+2611G>A)
10g.49611810G>CCA376721988CHAT,SLC18A3c.1070G>C (p.Trp357Ser)
c.-69+2611G>C (n.-69+2611G>C)
10g.49611810G>TCA376721989CHAT,SLC18A3c.1070G>T (p.Trp357Leu)
c.-69+2611G>T (n.-69+2611G>T)
10g.49611811G>ACA376721990CHAT,SLC18A3c.1071G>A (p.Trp357Ter)
c.-69+2612G>A (n.-69+2612G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.49611811G>CCA376721991CHAT,SLC18A3c.1071G>C (p.Trp357Cys)
c.-69+2612G>C (n.-69+2612G>C)
10g.49611811G=CA1908794760CHAT,SLC18A3c.1071G= (p.Trp357=)
c.-69+2612G= (n.-69+2612G=)
10g.49611811G>TCA206621369CHAT,SLC18A3c.1071G>T (p.Trp357Cys)
c.-69+2612G>T (n.-69+2612G>T)
 dbSNP gnomAD v4
10g.49611812C>ACA376721992CHAT,SLC18A3c.1072C>A (p.Leu358Met)
c.-69+2613C>A (n.-69+2613C>A)
10g.49611812C=CA1908794766CHAT,SLC18A3c.1072C= (p.Leu358=)
c.-69+2613C= (n.-69+2613C=)
10g.49611812C>GCA376721993CHAT,SLC18A3c.1072C>G (p.Leu358Val)
c.-69+2613C>G (n.-69+2613C>G)
10g.49611812C>TCA469791369CHAT,SLC18A3c.1072C>T (p.Leu358=)
c.-69+2613C>T (n.-69+2613C>T)
 dbSNP
10g.49611813T>ACA376721994CHAT,SLC18A3c.1073T>A (p.Leu358Gln)
c.-69+2614T>A (n.-69+2614T>A)
10g.49611813T>CCA376721995CHAT,SLC18A3c.1073T>C (p.Leu358Pro)
c.-69+2614T>C (n.-69+2614T>C)
10g.49611813T>GCA376721996CHAT,SLC18A3c.1073T>G (p.Leu358Arg)
c.-69+2614T>G (n.-69+2614T>G)
10g.49611814G>ACA469791372CHAT,SLC18A3c.1074G>A (p.Leu358=)
c.-69+2615G>A (n.-69+2615G>A)
 ClinVar dbSNP gnomAD v2 gnomAD v4
10g.49611814G>CCA469791374CHAT,SLC18A3c.1074G>C (p.Leu358=)
c.-69+2615G>C (n.-69+2615G>C)
10g.49611814G=CA1908794769CHAT,SLC18A3c.1074G= (p.Leu358=)
c.-69+2615G= (n.-69+2615G=)
10g.49611814G>TCA469791371CHAT,SLC18A3c.1074G>T (p.Leu358=)
c.-69+2615G>T (n.-69+2615G>T)
 gnomAD v4
10g.49611815T>ACA376721998CHAT,SLC18A3c.1075T>A (p.Tyr359Asn)
c.-69+2616T>A (n.-69+2616T>A)
10g.49611815T>CCA376721997CHAT,SLC18A3c.1075T>C (p.Tyr359His)
c.-69+2616T>C (n.-69+2616T>C)
 gnomAD v4
10g.49611815T>GCA206621371CHAT,SLC18A3c.1075T>G (p.Tyr359Asp)
c.-69+2616T>G (n.-69+2616T>G)
 dbSNP
10g.49611815T=CA1908794771CHAT,SLC18A3c.1075T= (p.Tyr359=)
c.-69+2616T= (n.-69+2616T=)
10g.49611816A=CA1908794775CHAT,SLC18A3c.1076A= (p.Tyr359=)
c.-69+2617A= (n.-69+2617A=)
10g.49611816A>CCA206621373CHAT,SLC18A3c.1076A>C (p.Tyr359Ser)
c.-69+2617A>C (n.-69+2617A>C)
 dbSNP
10g.49611816A>GCA376721999CHAT,SLC18A3c.1076A>G (p.Tyr359Cys)
c.-69+2617A>G (n.-69+2617A>G)
10g.49611816A>TCA376722000CHAT,SLC18A3c.1076A>T (p.Tyr359Phe)
c.-69+2617A>T (n.-69+2617A>T)
 ClinVar dbSNP gnomAD v2 gnomAD v4
10g.49611817C>ACA376722001CHAT,SLC18A3c.1077C>A (p.Tyr359Ter)
c.-69+2618C>A (n.-69+2618C>A)
 dbSNP gnomAD v4
10g.49611817C=CA1908794785CHAT,SLC18A3c.1077C= (p.Tyr359=)
c.-69+2618C= (n.-69+2618C=)
10g.49611817C>GCA376722002CHAT,SLC18A3c.1077C>G (p.Tyr359Ter)
c.-69+2618C>G (n.-69+2618C>G)
10g.49611817C>TCA469791383CHAT,SLC18A3c.1077C>T (p.Tyr359=)
c.-69+2618C>T (n.-69+2618C>T)
 gnomAD v4 COSMIC
10g.49611818G>ACA376722003CHAT,SLC18A3c.1078G>A (p.Gly360Ser)
c.-69+2619G>A (n.-69+2619G>A)
 dbSNP gnomAD v4
10g.49611818G>CCA376722004CHAT,SLC18A3c.1078G>C (p.Gly360Arg)
c.-69+2619G>C (n.-69+2619G>C)
 dbSNP
10g.49611818G=CA1908794786CHAT,SLC18A3c.1078G= (p.Gly360=)
c.-69+2619G= (n.-69+2619G=)
10g.49611818G>TCA5496896CHAT,SLC18A3c.1078G>T (p.Gly360Cys)
c.-69+2619G>T (n.-69+2619G>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.49611819G>ACA376722005CHAT,SLC18A3c.1079G>A (p.Gly360Asp)
c.-69+2620G>A (n.-69+2620G>A)
10g.49611819G>CCA376722006CHAT,SLC18A3c.1079G>C (p.Gly360Ala)
c.-69+2620G>C (n.-69+2620G>C)
10g.49611819G>TCA376722007CHAT,SLC18A3c.1079G>T (p.Gly360Val)
c.-69+2620G>T (n.-69+2620G>T)
10g.49611820C>ACA469791390CHAT,SLC18A3c.1080C>A (p.Gly360=)
c.-69+2621C>A (n.-69+2621C>A)
 gnomAD v4
10g.49611820C=CA1908794798CHAT,SLC18A3c.1080C= (p.Gly360=)
c.-69+2621C= (n.-69+2621C=)
10g.49611820C>GCA469791392CHAT,SLC18A3c.1080C>G (p.Gly360=)
c.-69+2621C>G (n.-69+2621C>G)
10g.49611820C>TCA5496897CHAT,SLC18A3c.1080C>T (p.Gly360=)
c.-69+2621C>T (n.-69+2621C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.49611821G>ACA376722008CHAT,SLC18A3c.1081G>A (p.Ala361Thr)
c.-69+2622G>A (n.-69+2622G>A)
 dbSNP gnomAD v4
10g.49611821G>CCA376722009CHAT,SLC18A3c.1081G>C (p.Ala361Pro)
c.-69+2622G>C (n.-69+2622G>C)
10g.49611821G=CA1908794804CHAT,SLC18A3c.1081G= (p.Ala361=)
c.-69+2622G= (n.-69+2622G=)
10g.49611821G>TCA5496898CHAT,SLC18A3c.1081G>T (p.Ala361Ser)
c.-69+2622G>T (n.-69+2622G>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.49611822C>ACA376722010CHAT,SLC18A3c.1082C>A (p.Ala361Glu)
c.-69+2623C>A (n.-69+2623C>A)
10g.49611822C>GCA376722011CHAT,SLC18A3c.1082C>G (p.Ala361Gly)
c.-69+2623C>G (n.-69+2623C>G)
10g.49611822C>TCA376722012CHAT,SLC18A3c.1082C>T (p.Ala361Val)
c.-69+2623C>T (n.-69+2623C>T)
 gnomAD v4 COSMIC

Number of alleles fetched