Chr Mutation (hg38) CAid Gene Transcript Linkouts
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
10g.49611823G>ACA469791395CHAT,SLC18A3c.1083G>A (p.Ala361=)
c.-69+2624G>A (n.-69+2624G>A)
 dbSNP COSMIC
10g.49611823G>CCA469791396CHAT,SLC18A3c.1083G>C (p.Ala361=)
c.-69+2624G>C (n.-69+2624G>C)
 dbSNP gnomAD v4
10g.49611823G=CA1908794809CHAT,SLC18A3c.1083G= (p.Ala361=)
c.-69+2624G= (n.-69+2624G=)
10g.49611823G>TCA206621384CHAT,SLC18A3c.1083G>T (p.Ala361=)
c.-69+2624G>T (n.-69+2624G>T)
 ClinVar dbSNP gnomAD v3 gnomAD v4
10g.49611824C>ACA376722013CHAT,SLC18A3c.1084C>A (p.Leu362Ile)
c.-69+2625C>A (n.-69+2625C>A)
10g.49611824C=CA1908794814CHAT,SLC18A3c.1084C= (p.Leu362=)
c.-69+2625C= (n.-69+2625C=)
10g.49611824C>GCA5496899CHAT,SLC18A3c.1084C>G (p.Leu362Val)
c.-69+2625C>G (n.-69+2625C>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
10g.49611824C>TCA376722014CHAT,SLC18A3c.1084C>T (p.Leu362Phe)
c.-69+2625C>T (n.-69+2625C>T)
10g.49611825T>ACA376722015CHAT,SLC18A3c.1085T>A (p.Leu362His)
c.-69+2626T>A (n.-69+2626T>A)
10g.49611825T>CCA376722017CHAT,SLC18A3c.1085T>C (p.Leu362Pro)
c.-69+2626T>C (n.-69+2626T>C)
10g.49611825T>GCA376722016CHAT,SLC18A3c.1085T>G (p.Leu362Arg)
c.-69+2626T>G (n.-69+2626T>G)
10g.49611826T>ACA469791403CHAT,SLC18A3c.1086T>A (p.Leu362=)
c.-69+2627T>A (n.-69+2627T>A)
 gnomAD v4
10g.49611826T>CCA469791406CHAT,SLC18A3c.1086T>C (p.Leu362=)
c.-69+2627T>C (n.-69+2627T>C)
 gnomAD v4
10g.49611826T>GCA469791405CHAT,SLC18A3c.1086T>G (p.Leu362=)
c.-69+2627T>G (n.-69+2627T>G)
10g.49611826_49611827delinsTGCA1908794817CHAT,SLC18A3c.1086_1087delinsTG (p.Leu362=)
c.-69+2627_-69+2628delinsTG (n.-69+2627_-69+2628delinsTG)
10g.49611827G>ACA376722018CHAT,SLC18A3c.1087G>A (p.Gly363Arg)
c.-69+2628G>A (n.-69+2628G>A)
10g.49611827G>CCA376722019CHAT,SLC18A3c.1087G>C (p.Gly363Arg)
c.-69+2628G>C (n.-69+2628G>C)
10g.49611827G>TCA376722020CHAT,SLC18A3c.1087G>T (p.Gly363Trp)
c.-69+2628G>T (n.-69+2628G>T)
 gnomAD v4
10g.49611829delCA5496900CHAT,SLC18A3c.1089del (p.Leu364TrpfsTer3)
c.-69+2630del (n.-69+2630del)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.49611828G>ACA376722023CHAT,SLC18A3c.1088G>A (p.Gly363Glu)
c.-69+2629G>A (n.-69+2629G>A)
10g.49611828G>CCA376722021CHAT,SLC18A3c.1088G>C (p.Gly363Ala)
c.-69+2629G>C (n.-69+2629G>C)
10g.49611828G>TCA376722022CHAT,SLC18A3c.1088G>T (p.Gly363Val)
c.-69+2629G>T (n.-69+2629G>T)
 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

Number of alleles fetched