Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
10 | g.49611754T>A | CA376721763 | CHAT,SLC18A3 | c.1014T>A (p.His338Gln) c.-69+2555T>A (n.-69+2555T>A) | |
10 | g.49611754T>C | CA469791469 | CHAT,SLC18A3 | c.1014T>C (p.His338=) c.-69+2555T>C (n.-69+2555T>C) | |
10 | g.49611754T>G | CA376721765 | CHAT,SLC18A3 | c.1014T>G (p.His338Gln) c.-69+2555T>G (n.-69+2555T>G) | |
10 | g.49611755G>A | CA376721769 | CHAT,SLC18A3 | c.1015G>A (p.Val339Met) c.-69+2556G>A (n.-69+2556G>A) | gnomAD v4 |
10 | g.49611755G>C | CA376721773 | CHAT,SLC18A3 | c.1015G>C (p.Val339Leu) c.-69+2556G>C (n.-69+2556G>C) | dbSNP gnomAD v2 |
10 | g.49611755G= | CA1908794601 | CHAT,SLC18A3 | c.1015G= (p.Val339=) c.-69+2556G= (n.-69+2556G=) | |
10 | g.49611755G>T | CA376721771 | CHAT,SLC18A3 | c.1015G>T (p.Val339Leu) c.-69+2556G>T (n.-69+2556G>T) | |
10 | g.49611756T>A | CA376721776 | CHAT,SLC18A3 | c.1016T>A (p.Val339Glu) c.-69+2557T>A (n.-69+2557T>A) | |
10 | g.49611756T>C | CA376721778 | CHAT,SLC18A3 | c.1016T>C (p.Val339Ala) c.-69+2557T>C (n.-69+2557T>C) | dbSNP |
10 | g.49611756T>G | CA376721781 | CHAT,SLC18A3 | c.1016T>G (p.Val339Gly) c.-69+2557T>G (n.-69+2557T>G) | |
10 | g.49611756T= | CA1908794606 | CHAT,SLC18A3 | c.1016T= (p.Val339=) c.-69+2557T= (n.-69+2557T=) | |
10 | g.49611757G>A | CA469791479 | CHAT,SLC18A3 | c.1017G>A (p.Val339=) c.-69+2558G>A (n.-69+2558G>A) | gnomAD v4 |
10 | g.49611757G>C | CA469791478 | CHAT,SLC18A3 | c.1017G>C (p.Val339=) c.-69+2558G>C (n.-69+2558G>C) | |
10 | g.49611757G= | CA1908794611 | CHAT,SLC18A3 | c.1017G= (p.Val339=) c.-69+2558G= (n.-69+2558G=) | |
10 | g.49611757G>T | CA469791477 | CHAT,SLC18A3 | c.1017G>T (p.Val339=) c.-69+2558G>T (n.-69+2558G>T) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.49611758C>A | CA376721784 | CHAT,SLC18A3 | c.1018C>A (p.Leu340Met) c.-69+2559C>A (n.-69+2559C>A) | gnomAD v4 |
10 | g.49611758C>G | CA376721786 | CHAT,SLC18A3 | c.1018C>G (p.Leu340Val) c.-69+2559C>G (n.-69+2559C>G) | |
10 | g.49611758C>T | CA469791480 | CHAT,SLC18A3 | c.1018C>T (p.Leu340=) c.-69+2559C>T (n.-69+2559C>T) | |
10 | g.49611759T>A | CA376721790 | CHAT,SLC18A3 | c.1019T>A (p.Leu340Gln) c.-69+2560T>A (n.-69+2560T>A) | |
10 | g.49611759T>C | CA376721791 | CHAT,SLC18A3 | c.1019T>C (p.Leu340Pro) c.-69+2560T>C (n.-69+2560T>C) | |
10 | g.49611759T>G | CA376721794 | CHAT,SLC18A3 | c.1019T>G (p.Leu340Arg) c.-69+2560T>G (n.-69+2560T>G) | |
10 | g.49611759_49611761delinsTGG | CA1908794616 | CHAT,SLC18A3 | c.1019_1021delinsTGG (p.Leu340=) c.-69+2560_-69+2562delinsTGG (n.-69+2560_-69+2562delinsTGG) | |
10 | g.49611760G>A | CA469791485 | CHAT,SLC18A3 | c.1020G>A (p.Leu340=) c.-69+2561G>A (n.-69+2561G>A) | |
10 | g.49611760G>C | CA469791487 | CHAT,SLC18A3 | c.1020G>C (p.Leu340=) c.-69+2561G>C (n.-69+2561G>C) | |
10 | g.49611760G>T | CA469791486 | CHAT,SLC18A3 | c.1020G>T (p.Leu340=) c.-69+2561G>T (n.-69+2561G>T) | |
10 | g.49611761_49611762del | CA5496885 | CHAT,SLC18A3 | c.1021_1022del (p.Gly341ArgfsTer?) c.-69+2562_-69+2563del (n.-69+2562_-69+2563del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.49611761G>A | CA376721800 | CHAT,SLC18A3 | c.1021G>A (p.Gly341Ser) c.-69+2562G>A (n.-69+2562G>A) | |
10 | g.49611761G>C | CA376721802 | CHAT,SLC18A3 | c.1021G>C (p.Gly341Arg) c.-69+2562G>C (n.-69+2562G>C) | |
10 | g.49611761G= | CA1908794623 | CHAT,SLC18A3 | c.1021G= (p.Gly341=) c.-69+2562G= (n.-69+2562G=) | |
10 | g.49611761G>T | CA376721804 | CHAT,SLC18A3 | c.1021G>T (p.Gly341Cys) c.-69+2562G>T (n.-69+2562G>T) | |
10 | g.49611761_49611762insACCTCAT | CA5496886 | CHAT,SLC18A3 | c.1021_1022insACCTCAT (p.Gly341AspfsTer?) c.-69+2562_-69+2563insACCTCAT (n.-69+2562_-69+2563insACCTCAT) | dbSNP ExAC gnomAD v2 |
10 | g.49611762G>A | CA376721812 | CHAT,SLC18A3 | c.1022G>A (p.Gly341Asp) c.-69+2563G>A (n.-69+2563G>A) | dbSNP |
10 | g.49611762G>C | CA376721814 | CHAT,SLC18A3 | c.1022G>C (p.Gly341Ala) c.-69+2563G>C (n.-69+2563G>C) | |
10 | g.49611762G= | CA1908794629 | CHAT,SLC18A3 | c.1022G= (p.Gly341=) c.-69+2563G= (n.-69+2563G=) | |
10 | g.49611762G>T | CA376721808 | CHAT,SLC18A3 | c.1022G>T (p.Gly341Val) c.-69+2563G>T (n.-69+2563G>T) | |
10 | g.49611763C>A | CA469791490 | CHAT,SLC18A3 | c.1023C>A (p.Gly341=) c.-69+2564C>A (n.-69+2564C>A) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.49611763C= | CA1908794635 | CHAT,SLC18A3 | c.1023C= (p.Gly341=) c.-69+2564C= (n.-69+2564C=) | |
10 | g.49611763C>G | CA469791491 | CHAT,SLC18A3 | c.1023C>G (p.Gly341=) c.-69+2564C>G (n.-69+2564C>G) | |
10 | g.49611763C>T | CA469791488 | CHAT,SLC18A3 | c.1023C>T (p.Gly341=) c.-69+2564C>T (n.-69+2564C>T) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
10 | g.49611764G>A | CA376721820 | CHAT,SLC18A3 | c.1024G>A (p.Val342Ile) c.-69+2565G>A (n.-69+2565G>A) | gnomAD v4 COSMIC |
10 | g.49611764G>C | CA376721816 | CHAT,SLC18A3 | c.1024G>C (p.Val342Leu) c.-69+2565G>C (n.-69+2565G>C) | |
10 | g.49611764G>T | CA376721817 | CHAT,SLC18A3 | c.1024G>T (p.Val342Phe) c.-69+2565G>T (n.-69+2565G>T) | |
10 | g.49611764_49611765insAAAAAC | CA2787933826 | CHAT,SLC18A3 | c.1024_1025insAAAAAC (p.Val342delinsGluLysLeu) c.-69+2565_-69+2566insAAAAAC (n.-69+2565_-69+2566insAAAAAC) | |
10 | g.49611765T>A | CA376721823 | CHAT,SLC18A3 | c.1025T>A (p.Val342Asp) c.-69+2566T>A (n.-69+2566T>A) | |
10 | g.49611765T>C | CA376721826 | CHAT,SLC18A3 | c.1025T>C (p.Val342Ala) c.-69+2566T>C (n.-69+2566T>C) | |
10 | g.49611765T>G | CA376721828 | CHAT,SLC18A3 | c.1025T>G (p.Val342Gly) c.-69+2566T>G (n.-69+2566T>G) | |
10 | g.49611766_49611767del | CA2843219625 | CHAT,SLC18A3 | c.1026_1027del (p.Tyr343ProfsTer?) c.-69+2567_-69+2568del (n.-69+2567_-69+2568del) | |
10 | g.49611766C>A | CA469791496 | CHAT,SLC18A3 | c.1026C>A (p.Val342=) c.-69+2567C>A (n.-69+2567C>A) | |
10 | g.49611766C>G | CA469791495 | CHAT,SLC18A3 | c.1026C>G (p.Val342=) c.-69+2567C>G (n.-69+2567C>G) | COSMIC |
10 | g.49611766C>T | CA469791494 | CHAT,SLC18A3 | c.1026C>T (p.Val342=) c.-69+2567C>T (n.-69+2567C>T) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.49611767T>A | CA376721832 | CHAT,SLC18A3 | c.1027T>A (p.Tyr343Asn) c.-69+2568T>A (n.-69+2568T>A) | |
10 | g.49611767T>C | CA376721834 | CHAT,SLC18A3 | c.1027T>C (p.Tyr343His) c.-69+2568T>C (n.-69+2568T>C) | |
10 | g.49611767T>G | CA376721836 | CHAT,SLC18A3 | c.1027T>G (p.Tyr343Asp) c.-69+2568T>G (n.-69+2568T>G) | |
10 | g.49611768A= | CA1908794639 | CHAT,SLC18A3 | c.1028A= (p.Tyr343=) c.-69+2569A= (n.-69+2569A=) | |
10 | g.49611768A>C | CA376721840 | CHAT,SLC18A3 | c.1028A>C (p.Tyr343Ser) c.-69+2569A>C (n.-69+2569A>C) | dbSNP |
10 | g.49611768A>G | CA376721842 | CHAT,SLC18A3 | c.1028A>G (p.Tyr343Cys) c.-69+2569A>G (n.-69+2569A>G) | |
10 | g.49611768A>T | CA376721845 | CHAT,SLC18A3 | c.1028A>T (p.Tyr343Phe) c.-69+2569A>T (n.-69+2569A>T) | |
10 | g.49611769C>A | CA376721847 | CHAT,SLC18A3 | c.1029C>A (p.Tyr343Ter) c.-69+2570C>A (n.-69+2570C>A) | |
10 | g.49611769C= | CA1908794644 | CHAT,SLC18A3 | c.1029C= (p.Tyr343=) c.-69+2570C= (n.-69+2570C=) | |
10 | g.49611769C>G | CA376721849 | CHAT,SLC18A3 | c.1029C>G (p.Tyr343Ter) c.-69+2570C>G (n.-69+2570C>G) | |
10 | g.49611769C>T | CA469791499 | CHAT,SLC18A3 | c.1029C>T (p.Tyr343=) c.-69+2570C>T (n.-69+2570C>T) | dbSNP gnomAD v4 |
10 | g.49611770C>A | CA376721853 | CHAT,SLC18A3 | c.1030C>A (p.Leu344Ile) c.-69+2571C>A (n.-69+2571C>A) | |
10 | g.49611770C= | CA1908794648 | CHAT,SLC18A3 | c.1030C= (p.Leu344=) c.-69+2571C= (n.-69+2571C=) | |
10 | g.49611770C>G | CA5496887 | CHAT,SLC18A3 | c.1030C>G (p.Leu344Val) c.-69+2571C>G (n.-69+2571C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.49611770C>T | CA376721854 | CHAT,SLC18A3 | c.1030C>T (p.Leu344Phe) c.-69+2571C>T (n.-69+2571C>T) | gnomAD v4 |
10 | g.49611771T>A | CA376721858 | CHAT,SLC18A3 | c.1031T>A (p.Leu344His) c.-69+2572T>A (n.-69+2572T>A) | |
10 | g.49611771T>C | CA376721860 | CHAT,SLC18A3 | c.1031T>C (p.Leu344Pro) c.-69+2572T>C (n.-69+2572T>C) | |
10 | g.49611771T>G | CA376721862 | CHAT,SLC18A3 | c.1031T>G (p.Leu344Arg) c.-69+2572T>G (n.-69+2572T>G) | |
10 | g.49611772C>A | CA469791505 | CHAT,SLC18A3 | c.1032C>A (p.Leu344=) c.-69+2573C>A (n.-69+2573C>A) | |
10 | g.49611772C= | CA1908794653 | CHAT,SLC18A3 | c.1032C= (p.Leu344=) c.-69+2573C= (n.-69+2573C=) | |
10 | g.49611772C>G | CA469791506 | CHAT,SLC18A3 | c.1032C>G (p.Leu344=) c.-69+2573C>G (n.-69+2573C>G) | |
10 | g.49611772C>T | CA206621341 | CHAT,SLC18A3 | c.1032C>T (p.Leu344=) c.-69+2573C>T (n.-69+2573C>T) | dbSNP gnomAD v4 |
10 | g.49611773A= | CA1908794658 | CHAT,SLC18A3 | c.1033A= (p.Thr345=) c.-69+2574A= (n.-69+2574A=) | |
10 | g.49611773A>C | CA376721865 | CHAT,SLC18A3 | c.1033A>C (p.Thr345Pro) c.-69+2574A>C (n.-69+2574A>C) | dbSNP |
10 | g.49611773A>G | CA376721867 | CHAT,SLC18A3 | c.1033A>G (p.Thr345Ala) c.-69+2574A>G (n.-69+2574A>G) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
10 | g.49611773A>T | CA376721869 | CHAT,SLC18A3 | c.1033A>T (p.Thr345Ser) c.-69+2574A>T (n.-69+2574A>T) | |
10 | g.49611774C>A | CA376721871 | CHAT,SLC18A3 | c.1034C>A (p.Thr345Asn) c.-69+2575C>A (n.-69+2575C>A) | |
10 | g.49611774C= | CA1908794665 | CHAT,SLC18A3 | c.1034C= (p.Thr345=) c.-69+2575C= (n.-69+2575C=) | |
10 | g.49611774C>G | CA5496888 | CHAT,SLC18A3 | c.1034C>G (p.Thr345Ser) c.-69+2575C>G (n.-69+2575C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.49611774C>T | CA376721874 | CHAT,SLC18A3 | c.1034C>T (p.Thr345Ile) c.-69+2575C>T (n.-69+2575C>T) | ClinVar dbSNP gnomAD v4 |
10 | g.49611775C>A | CA469791515 | CHAT,SLC18A3 | c.1035C>A (p.Thr345=) c.-69+2576C>A (n.-69+2576C>A) | gnomAD v4 |
10 | g.49611775C= | CA1908794673 | CHAT,SLC18A3 | c.1035C= (p.Thr345=) c.-69+2576C= (n.-69+2576C=) | |
10 | g.49611775C>G | CA5496889 | CHAT,SLC18A3 | c.1035C>G (p.Thr345=) c.-69+2576C>G (n.-69+2576C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.49611775C>T | CA469791514 | CHAT,SLC18A3 | c.1035C>T (p.Thr345=) c.-69+2576C>T (n.-69+2576C>T) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.49611776G>A | CA376721880 | CHAT,SLC18A3 | c.1036G>A (p.Val346Met) c.-69+2577G>A (n.-69+2577G>A) | |
10 | g.49611776G>C | CA376721881 | CHAT,SLC18A3 | c.1036G>C (p.Val346Leu) c.-69+2577G>C (n.-69+2577G>C) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.49611776G= | CA1908794680 | CHAT,SLC18A3 | c.1036G= (p.Val346=) c.-69+2577G= (n.-69+2577G=) | |
10 | g.49611776G>T | CA376721878 | CHAT,SLC18A3 | c.1036G>T (p.Val346Leu) c.-69+2577G>T (n.-69+2577G>T) | |
10 | g.49611777T>A | CA376721884 | CHAT,SLC18A3 | c.1037T>A (p.Val346Glu) c.-69+2578T>A (n.-69+2578T>A) | |
10 | g.49611777T>C | CA5496890 | CHAT,SLC18A3 | c.1037T>C (p.Val346Ala) c.-69+2578T>C (n.-69+2578T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.49611777T>G | CA376721887 | CHAT,SLC18A3 | c.1037T>G (p.Val346Gly) c.-69+2578T>G (n.-69+2578T>G) | |
10 | g.49611777T= | CA1908794686 | CHAT,SLC18A3 | c.1037T= (p.Val346=) c.-69+2578T= (n.-69+2578T=) | |
10 | g.49611778G>A | CA469791523 | CHAT,SLC18A3 | c.1038G>A (p.Val346=) c.-69+2579G>A (n.-69+2579G>A) | |
10 | g.49611778G>C | CA469791525 | CHAT,SLC18A3 | c.1038G>C (p.Val346=) c.-69+2579G>C (n.-69+2579G>C) | |
10 | g.49611778G>T | CA469791524 | CHAT,SLC18A3 | c.1038G>T (p.Val346=) c.-69+2579G>T (n.-69+2579G>T) | |
10 | g.49611779C>A | CA376721890 | CHAT,SLC18A3 | c.1039C>A (p.Arg347Ser) c.-69+2580C>A (n.-69+2580C>A) | gnomAD v4 |
10 | g.49611779C>G | CA376721892 | CHAT,SLC18A3 | c.1039C>G (p.Arg347Gly) c.-69+2580C>G (n.-69+2580C>G) | |
10 | g.49611779C>T | CA376721893 | CHAT,SLC18A3 | c.1039C>T (p.Arg347Cys) c.-69+2580C>T (n.-69+2580C>T) | gnomAD v4 |
10 | g.49611780G>A | CA376721900 | CHAT,SLC18A3 | c.1040G>A (p.Arg347His) c.-69+2581G>A (n.-69+2581G>A) | gnomAD v4 COSMIC |
10 | g.49611780G>C | CA376721896 | CHAT,SLC18A3 | c.1040G>C (p.Arg347Pro) c.-69+2581G>C (n.-69+2581G>C) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.49611780G= | CA1908794691 | CHAT,SLC18A3 | c.1040G= (p.Arg347=) c.-69+2581G= (n.-69+2581G=) | |
10 | g.49611780G>T | CA206621352 | CHAT,SLC18A3 | c.1040G>T (p.Arg347Leu) c.-69+2581G>T (n.-69+2581G>T) | ClinVar dbSNP gnomAD v4 |
10 | g.49611781C>A | CA469791530 | CHAT,SLC18A3 | c.1041C>A (p.Arg347=) c.-69+2582C>A (n.-69+2582C>A) | |
10 | g.49611781C>G | CA469791529 | CHAT,SLC18A3 | c.1041C>G (p.Arg347=) c.-69+2582C>G (n.-69+2582C>G) | |
10 | g.49611781C>T | CA469791531 | CHAT,SLC18A3 | c.1041C>T (p.Arg347=) c.-69+2582C>T (n.-69+2582C>T) | gnomAD v4 |
10 | g.49611782C>A | CA376721902 | CHAT,SLC18A3 | c.1042C>A (p.Leu348Met) c.-69+2583C>A (n.-69+2583C>A) | |
10 | g.49611782C= | CA1908794697 | CHAT,SLC18A3 | c.1042C= (p.Leu348=) c.-69+2583C= (n.-69+2583C=) | |
10 | g.49611782C>G | CA376721904 | CHAT,SLC18A3 | c.1042C>G (p.Leu348Val) c.-69+2583C>G (n.-69+2583C>G) | |
10 | g.49611782C>T | CA469791533 | CHAT,SLC18A3 | c.1042C>T (p.Leu348=) c.-69+2583C>T (n.-69+2583C>T) | dbSNP gnomAD v2 |
10 | g.49611782_49611783insG | CA2609116959 | CHAT,SLC18A3 | c.1042_1043insG (p.Leu348ArgfsTer?) c.-69+2583_-69+2584insG (n.-69+2583_-69+2584insG) | gnomAD v4 |
10 | g.49611783T>A | CA376721905 | CHAT,SLC18A3 | c.1043T>A (p.Leu348Gln) c.-69+2584T>A (n.-69+2584T>A) | |
10 | g.49611783T>C | CA376721907 | CHAT,SLC18A3 | c.1043T>C (p.Leu348Pro) c.-69+2584T>C (n.-69+2584T>C) | |
10 | g.49611783T>G | CA376721909 | CHAT,SLC18A3 | c.1043T>G (p.Leu348Arg) c.-69+2584T>G (n.-69+2584T>G) | |
10 | g.49611784G>A | CA469791540 | CHAT,SLC18A3 | c.1044G>A (p.Leu348=) c.-69+2585G>A (n.-69+2585G>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
10 | g.49611784G>C | CA469791544 | CHAT,SLC18A3 | c.1044G>C (p.Leu348=) c.-69+2585G>C (n.-69+2585G>C) | dbSNP |
10 | g.49611784G= | CA1908794705 | CHAT,SLC18A3 | c.1044G= (p.Leu348=) c.-69+2585G= (n.-69+2585G=) | |
10 | g.49611784G>T | CA469791541 | CHAT,SLC18A3 | c.1044G>T (p.Leu348=) c.-69+2585G>T (n.-69+2585G>T) | gnomAD v4 |
10 | g.49611784_49611800del | CA2609116975 | CHAT,SLC18A3 | c.1044_1060del (p.Ala349ProfsTer?) c.-69+2585_-69+2601del (n.-69+2585_-69+2601del) | gnomAD v4 |
10 | g.49611785G>A | CA376721912 | CHAT,SLC18A3 | c.1045G>A (p.Ala349Thr) c.-69+2586G>A (n.-69+2586G>A) | |
10 | g.49611785G>C | CA376721916 | CHAT,SLC18A3 | c.1045G>C (p.Ala349Pro) c.-69+2586G>C (n.-69+2586G>C) | |
10 | g.49611785G>T | CA376721914 | CHAT,SLC18A3 | c.1045G>T (p.Ala349Ser) c.-69+2586G>T (n.-69+2586G>T) | gnomAD v4 |
10 | g.49611786C>A | CA376721920 | CHAT,SLC18A3 | c.1046C>A (p.Ala349Glu) c.-69+2587C>A (n.-69+2587C>A) | gnomAD v4 |
10 | g.49611786C= | CA1908794710 | CHAT,SLC18A3 | c.1046C= (p.Ala349=) c.-69+2587C= (n.-69+2587C=) | |
10 | g.49611786C>G | CA376721922 | CHAT,SLC18A3 | c.1046C>G (p.Ala349Gly) c.-69+2587C>G (n.-69+2587C>G) | |
10 | g.49611786C>T | CA376721924 | CHAT,SLC18A3 | c.1046C>T (p.Ala349Val) c.-69+2587C>T (n.-69+2587C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
10 | g.49611787G>A | CA469791546 | CHAT,SLC18A3 | c.1047G>A (p.Ala349=) c.-69+2588G>A (n.-69+2588G>A) | |
10 | g.49611787G>C | CA469791547 | CHAT,SLC18A3 | c.1047G>C (p.Ala349=) c.-69+2588G>C (n.-69+2588G>C) | |
10 | g.49611787G>T | CA469791545 | CHAT,SLC18A3 | c.1047G>T (p.Ala349=) c.-69+2588G>T (n.-69+2588G>T) | gnomAD v4 |
10 | g.49611788G>A | CA376721927 | CHAT,SLC18A3 | c.1048G>A (p.Ala350Thr) c.-69+2589G>A (n.-69+2589G>A) | |
10 | g.49611788G>C | CA376721930 | CHAT,SLC18A3 | c.1048G>C (p.Ala350Pro) c.-69+2589G>C (n.-69+2589G>C) | |
10 | g.49611788G>T | CA376721932 | CHAT,SLC18A3 | c.1048G>T (p.Ala350Ser) c.-69+2589G>T (n.-69+2589G>T) | gnomAD v4 |
10 | g.49611789C>A | CA206621357 | CHAT,SLC18A3 | c.1049C>A (p.Ala350Glu) c.-69+2590C>A (n.-69+2590C>A) | dbSNP |
10 | g.49611789C= | CA1908794718 | CHAT,SLC18A3 | c.1049C= (p.Ala350=) c.-69+2590C= (n.-69+2590C=) | |
10 | g.49611789C>G | CA376721937 | CHAT,SLC18A3 | c.1049C>G (p.Ala350Gly) c.-69+2590C>G (n.-69+2590C>G) | |
10 | g.49611789C>T | CA5496891 | CHAT,SLC18A3 | c.1049C>T (p.Ala350Val) c.-69+2590C>T (n.-69+2590C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.49611790G>A | CA5496892 | CHAT,SLC18A3 | c.1050G>A (p.Ala350=) c.-69+2591G>A (n.-69+2591G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
10 | g.49611790G>C | CA469791558 | CHAT,SLC18A3 | c.1050G>C (p.Ala350=) c.-69+2591G>C (n.-69+2591G>C) | |
10 | g.49611790G= | CA1908794724 | CHAT,SLC18A3 | c.1050G= (p.Ala350=) c.-69+2591G= (n.-69+2591G=) | |
10 | g.49611790G>T | CA469791557 | CHAT,SLC18A3 | c.1050G>T (p.Ala350=) c.-69+2591G>T (n.-69+2591G>T) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.49611791C>A | CA376721943 | CHAT,SLC18A3 | c.1051C>A (p.Arg351Ser) c.-69+2592C>A (n.-69+2592C>A) | |
10 | g.49611791C>G | CA376721945 | CHAT,SLC18A3 | c.1051C>G (p.Arg351Gly) c.-69+2592C>G (n.-69+2592C>G) | |
10 | g.49611791C>T | CA376721946 | CHAT,SLC18A3 | c.1051C>T (p.Arg351Cys) c.-69+2592C>T (n.-69+2592C>T) | |
10 | g.49611792G>A | CA376721948 | CHAT,SLC18A3 | c.1052G>A (p.Arg351His) c.-69+2593G>A (n.-69+2593G>A) | dbSNP gnomAD v4 |
10 | g.49611792G>C | CA376721949 | CHAT,SLC18A3 | c.1052G>C (p.Arg351Pro) c.-69+2593G>C (n.-69+2593G>C) | |
10 | g.49611792G= | CA1908794730 | CHAT,SLC18A3 | c.1052G= (p.Arg351=) c.-69+2593G= (n.-69+2593G=) | |
10 | g.49611792G>T | CA376721947 | CHAT,SLC18A3 | c.1052G>T (p.Arg351Leu) c.-69+2593G>T (n.-69+2593G>T) | gnomAD v4 |
10 | g.49611793C>A | CA469791564 | CHAT,SLC18A3 | c.1053C>A (p.Arg351=) c.-69+2594C>A (n.-69+2594C>A) | |
10 | g.49611793C>G | CA469791565 | CHAT,SLC18A3 | c.1053C>G (p.Arg351=) c.-69+2594C>G (n.-69+2594C>G) | |
10 | g.49611793C>T | CA469791566 | CHAT,SLC18A3 | c.1053C>T (p.Arg351=) c.-69+2594C>T (n.-69+2594C>T) | |
10 | g.49611794T>A | CA376721951 | CHAT,SLC18A3 | c.1054T>A (p.Tyr352Asn) c.-69+2595T>A (n.-69+2595T>A) | |
10 | g.49611794T>C | CA376721950 | CHAT,SLC18A3 | c.1054T>C (p.Tyr352His) c.-69+2595T>C (n.-69+2595T>C) | |
10 | g.49611794T>G | CA376721952 | CHAT,SLC18A3 | c.1054T>G (p.Tyr352Asp) c.-69+2595T>G (n.-69+2595T>G) | |
10 | g.49611795A>C | CA376721953 | CHAT,SLC18A3 | c.1055A>C (p.Tyr352Ser) c.-69+2596A>C (n.-69+2596A>C) | |
10 | g.49611795A>G | CA376721955 | CHAT,SLC18A3 | c.1055A>G (p.Tyr352Cys) c.-69+2596A>G (n.-69+2596A>G) | gnomAD v4 |
10 | g.49611795A>T | CA376721954 | CHAT,SLC18A3 | c.1055A>T (p.Tyr352Phe) c.-69+2596A>T (n.-69+2596A>T) | |
10 | g.49611796C>A | CA376721956 | CHAT,SLC18A3 | c.1056C>A (p.Tyr352Ter) c.-69+2597C>A (n.-69+2597C>A) | |
10 | g.49611796C>G | CA376721957 | CHAT,SLC18A3 | c.1056C>G (p.Tyr352Ter) c.-69+2597C>G (n.-69+2597C>G) | |
10 | g.49611796C>T | CA469791569 | CHAT,SLC18A3 | c.1056C>T (p.Tyr352=) c.-69+2597C>T (n.-69+2597C>T) | gnomAD v4 |
10 | g.49611798del | CA645559474 | CHAT,SLC18A3 | c.1058del (p.Pro353HisfsTer14) c.-69+2599del (n.-69+2599del) | COSMIC |
10 | g.49611796_49611801delinsCCCACA | CA1908794736 | CHAT,SLC18A3 | c.1056_1061delinsCCCACA (p.Tyr352=) c.-69+2597_-69+2602delinsCCCACA (n.-69+2597_-69+2602delinsCCCACA) | |
10 | g.49611797C>A | CA376721958 | CHAT,SLC18A3 | c.1057C>A (p.Pro353Thr) c.-69+2598C>A (n.-69+2598C>A) | |
10 | g.49611797C>G | CA376721959 | CHAT,SLC18A3 | c.1057C>G (p.Pro353Ala) c.-69+2598C>G (n.-69+2598C>G) | |
10 | g.49611797C>T | CA376721960 | CHAT,SLC18A3 | c.1057C>T (p.Pro353Ser) c.-69+2598C>T (n.-69+2598C>T) | |
10 | g.49611799_49611803del | CA5496893 | CHAT,SLC18A3 | c.1059_1063del (p.His354AlafsTer?) c.-69+2600_-69+2604del (n.-69+2600_-69+2604del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.49611798C>A | CA376721963 | CHAT,SLC18A3 | c.1058C>A (p.Pro353Gln) c.-69+2599C>A (n.-69+2599C>A) | |
10 | g.49611798C>G | CA376721961 | CHAT,SLC18A3 | c.1058C>G (p.Pro353Arg) c.-69+2599C>G (n.-69+2599C>G) | |
10 | g.49611798C>T | CA376721962 | CHAT,SLC18A3 | c.1058C>T (p.Pro353Leu) c.-69+2599C>T (n.-69+2599C>T) | |
10 | g.49611799A= | CA1908794740 | CHAT,SLC18A3 | c.1059A= (p.Pro353=) c.-69+2600A= (n.-69+2600A=) | |
10 | g.49611799A>C | CA469791583 | CHAT,SLC18A3 | c.1059A>C (p.Pro353=) c.-69+2600A>C (n.-69+2600A>C) | dbSNP gnomAD v4 |
10 | g.49611799A>G | CA469791585 | CHAT,SLC18A3 | c.1059A>G (p.Pro353=) c.-69+2600A>G (n.-69+2600A>G) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.49611799A>T | CA469791584 | CHAT,SLC18A3 | c.1059A>T (p.Pro353=) c.-69+2600A>T (n.-69+2600A>T) | |
10 | g.49611800C>A | CA376721964 | CHAT,SLC18A3 | c.1060C>A (p.His354Asn) c.-69+2601C>A (n.-69+2601C>A) | |
10 | g.49611800C>G | CA376721965 | CHAT,SLC18A3 | c.1060C>G (p.His354Asp) c.-69+2601C>G (n.-69+2601C>G) | |
10 | g.49611800C>T | CA376721966 | CHAT,SLC18A3 | c.1060C>T (p.His354Tyr) c.-69+2601C>T (n.-69+2601C>T) | |
10 | g.49611801A= | CA1908794744 | CHAT,SLC18A3 | c.1061A= (p.His354=) c.-69+2602A= (n.-69+2602A=) | |
10 | g.49611801A>C | CA5496894 | CHAT,SLC18A3 | c.1061A>C (p.His354Pro) c.-69+2602A>C (n.-69+2602A>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.49611801A>G | CA376721967 | CHAT,SLC18A3 | c.1061A>G (p.His354Arg) c.-69+2602A>G (n.-69+2602A>G) | |
10 | g.49611801A>T | CA376721968 | CHAT,SLC18A3 | c.1061A>T (p.His354Leu) c.-69+2602A>T (n.-69+2602A>T) | |
10 | g.49611802C>A | CA376721969 | CHAT,SLC18A3 | c.1062C>A (p.His354Gln) c.-69+2603C>A (n.-69+2603C>A) | |
10 | g.49611802C= | CA1908794751 | CHAT,SLC18A3 | c.1062C= (p.His354=) c.-69+2603C= (n.-69+2603C=) | |
10 | g.49611802C>G | CA376721970 | CHAT,SLC18A3 | c.1062C>G (p.His354Gln) c.-69+2603C>G (n.-69+2603C>G) | |
10 | g.49611802C>T | CA5496895 | CHAT,SLC18A3 | c.1062C>T (p.His354=) c.-69+2603C>T (n.-69+2603C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.49611803C>A | CA376721972 | CHAT,SLC18A3 | c.1063C>A (p.Leu355Met) c.-69+2604C>A (n.-69+2604C>A) | |
10 | g.49611803C= | CA1908794752 | CHAT,SLC18A3 | c.1063C= (p.Leu355=) c.-69+2604C= (n.-69+2604C=) | |
10 | g.49611803C>G | CA376721971 | CHAT,SLC18A3 | c.1063C>G (p.Leu355Val) c.-69+2604C>G (n.-69+2604C>G) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
10 | g.49611803C>T | CA469791343 | CHAT,SLC18A3 | c.1063C>T (p.Leu355=) c.-69+2604C>T (n.-69+2604C>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
10 | g.49611804T>A | CA376721973 | CHAT,SLC18A3 | c.1064T>A (p.Leu355Gln) c.-69+2605T>A (n.-69+2605T>A) | |
10 | g.49611804T>C | CA376721974 | CHAT,SLC18A3 | c.1064T>C (p.Leu355Pro) c.-69+2605T>C (n.-69+2605T>C) | |
10 | g.49611804T>G | CA376721975 | CHAT,SLC18A3 | c.1064T>G (p.Leu355Arg) c.-69+2605T>G (n.-69+2605T>G) | gnomAD v4 |
10 | g.49611805G>A | CA469791353 | CHAT,SLC18A3 | c.1065G>A (p.Leu355=) c.-69+2606G>A (n.-69+2606G>A) | |
10 | g.49611805G>C | CA469791352 | CHAT,SLC18A3 | c.1065G>C (p.Leu355=) c.-69+2606G>C (n.-69+2606G>C) | |
10 | g.49611805G>T | CA469791351 | CHAT,SLC18A3 | c.1065G>T (p.Leu355=) c.-69+2606G>T (n.-69+2606G>T) | gnomAD v4 |
10 | g.49611806del | CA2609117023 | CHAT,SLC18A3 | c.1066del (p.Gln356SerfsTer11) c.-69+2607del (n.-69+2607del) | gnomAD v4 |
10 | g.49611806C>A | CA376721976 | CHAT,SLC18A3 | c.1066C>A (p.Gln356Lys) c.-69+2607C>A (n.-69+2607C>A) | gnomAD v4 |
10 | g.49611806C>G | CA376721977 | CHAT,SLC18A3 | c.1066C>G (p.Gln356Glu) c.-69+2607C>G (n.-69+2607C>G) | |
10 | g.49611806C>T | CA376721978 | CHAT,SLC18A3 | c.1066C>T (p.Gln356Ter) c.-69+2607C>T (n.-69+2607C>T) | gnomAD v4 |
10 | g.49611807A>C | CA376721979 | CHAT,SLC18A3 | c.1067A>C (p.Gln356Pro) c.-69+2608A>C (n.-69+2608A>C) | |
10 | g.49611807A>G | CA376721980 | CHAT,SLC18A3 | c.1067A>G (p.Gln356Arg) c.-69+2608A>G (n.-69+2608A>G) | |
10 | g.49611807A>T | CA376721981 | CHAT,SLC18A3 | c.1067A>T (p.Gln356Leu) c.-69+2608A>T (n.-69+2608A>T) | |
10 | g.49611808G>A | CA469791357 | CHAT,SLC18A3 | c.1068G>A (p.Gln356=) c.-69+2609G>A (n.-69+2609G>A) | |
10 | g.49611808G>C | CA376721982 | CHAT,SLC18A3 | c.1068G>C (p.Gln356His) c.-69+2609G>C (n.-69+2609G>C) | |
10 | g.49611808G>T | CA376721983 | CHAT,SLC18A3 | c.1068G>T (p.Gln356His) c.-69+2609G>T (n.-69+2609G>T) | |
10 | g.49611809T>A | CA376721986 | CHAT,SLC18A3 | c.1069T>A (p.Trp357Arg) c.-69+2610T>A (n.-69+2610T>A) | |
10 | g.49611809T>C | CA376721985 | CHAT,SLC18A3 | c.1069T>C (p.Trp357Arg) c.-69+2610T>C (n.-69+2610T>C) | |
10 | g.49611809T>G | CA376721984 | CHAT,SLC18A3 | c.1069T>G (p.Trp357Gly) c.-69+2610T>G (n.-69+2610T>G) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.49611809T= | CA1908794755 | CHAT,SLC18A3 | c.1069T= (p.Trp357=) c.-69+2610T= (n.-69+2610T=) | |
10 | g.49611810G>A | CA376721987 | CHAT,SLC18A3 | c.1070G>A (p.Trp357Ter) c.-69+2611G>A (n.-69+2611G>A) | |
10 | g.49611810G>C | CA376721988 | CHAT,SLC18A3 | c.1070G>C (p.Trp357Ser) c.-69+2611G>C (n.-69+2611G>C) | |
10 | g.49611810G>T | CA376721989 | CHAT,SLC18A3 | c.1070G>T (p.Trp357Leu) c.-69+2611G>T (n.-69+2611G>T) | |
10 | g.49611811G>A | CA376721990 | CHAT,SLC18A3 | c.1071G>A (p.Trp357Ter) c.-69+2612G>A (n.-69+2612G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.49611811G>C | CA376721991 | CHAT,SLC18A3 | c.1071G>C (p.Trp357Cys) c.-69+2612G>C (n.-69+2612G>C) | |
10 | g.49611811G= | CA1908794760 | CHAT,SLC18A3 | c.1071G= (p.Trp357=) c.-69+2612G= (n.-69+2612G=) | |
10 | g.49611811G>T | CA206621369 | CHAT,SLC18A3 | c.1071G>T (p.Trp357Cys) c.-69+2612G>T (n.-69+2612G>T) | dbSNP gnomAD v4 |
10 | g.49611812C>A | CA376721992 | CHAT,SLC18A3 | c.1072C>A (p.Leu358Met) c.-69+2613C>A (n.-69+2613C>A) | |
10 | g.49611812C= | CA1908794766 | CHAT,SLC18A3 | c.1072C= (p.Leu358=) c.-69+2613C= (n.-69+2613C=) | |
10 | g.49611812C>G | CA376721993 | CHAT,SLC18A3 | c.1072C>G (p.Leu358Val) c.-69+2613C>G (n.-69+2613C>G) | |
10 | g.49611812C>T | CA469791369 | CHAT,SLC18A3 | c.1072C>T (p.Leu358=) c.-69+2613C>T (n.-69+2613C>T) | dbSNP |
10 | g.49611813T>A | CA376721994 | CHAT,SLC18A3 | c.1073T>A (p.Leu358Gln) c.-69+2614T>A (n.-69+2614T>A) | |
10 | g.49611813T>C | CA376721995 | CHAT,SLC18A3 | c.1073T>C (p.Leu358Pro) c.-69+2614T>C (n.-69+2614T>C) | |
10 | g.49611813T>G | CA376721996 | CHAT,SLC18A3 | c.1073T>G (p.Leu358Arg) c.-69+2614T>G (n.-69+2614T>G) | |
10 | g.49611814G>A | CA469791372 | CHAT,SLC18A3 | c.1074G>A (p.Leu358=) c.-69+2615G>A (n.-69+2615G>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
10 | g.49611814G>C | CA469791374 | CHAT,SLC18A3 | c.1074G>C (p.Leu358=) c.-69+2615G>C (n.-69+2615G>C) | |
10 | g.49611814G= | CA1908794769 | CHAT,SLC18A3 | c.1074G= (p.Leu358=) c.-69+2615G= (n.-69+2615G=) | |
10 | g.49611814G>T | CA469791371 | CHAT,SLC18A3 | c.1074G>T (p.Leu358=) c.-69+2615G>T (n.-69+2615G>T) | gnomAD v4 |
10 | g.49611815T>A | CA376721998 | CHAT,SLC18A3 | c.1075T>A (p.Tyr359Asn) c.-69+2616T>A (n.-69+2616T>A) | |
10 | g.49611815T>C | CA376721997 | CHAT,SLC18A3 | c.1075T>C (p.Tyr359His) c.-69+2616T>C (n.-69+2616T>C) | gnomAD v4 |
10 | g.49611815T>G | CA206621371 | CHAT,SLC18A3 | c.1075T>G (p.Tyr359Asp) c.-69+2616T>G (n.-69+2616T>G) | dbSNP |
10 | g.49611815T= | CA1908794771 | CHAT,SLC18A3 | c.1075T= (p.Tyr359=) c.-69+2616T= (n.-69+2616T=) | |
10 | g.49611816A= | CA1908794775 | CHAT,SLC18A3 | c.1076A= (p.Tyr359=) c.-69+2617A= (n.-69+2617A=) | |
10 | g.49611816A>C | CA206621373 | CHAT,SLC18A3 | c.1076A>C (p.Tyr359Ser) c.-69+2617A>C (n.-69+2617A>C) | dbSNP |
10 | g.49611816A>G | CA376721999 | CHAT,SLC18A3 | c.1076A>G (p.Tyr359Cys) c.-69+2617A>G (n.-69+2617A>G) | |
10 | g.49611816A>T | CA376722000 | CHAT,SLC18A3 | c.1076A>T (p.Tyr359Phe) c.-69+2617A>T (n.-69+2617A>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
10 | g.49611817C>A | CA376722001 | CHAT,SLC18A3 | c.1077C>A (p.Tyr359Ter) c.-69+2618C>A (n.-69+2618C>A) | dbSNP gnomAD v4 |
10 | g.49611817C= | CA1908794785 | CHAT,SLC18A3 | c.1077C= (p.Tyr359=) c.-69+2618C= (n.-69+2618C=) | |
10 | g.49611817C>G | CA376722002 | CHAT,SLC18A3 | c.1077C>G (p.Tyr359Ter) c.-69+2618C>G (n.-69+2618C>G) | |
10 | g.49611817C>T | CA469791383 | CHAT,SLC18A3 | c.1077C>T (p.Tyr359=) c.-69+2618C>T (n.-69+2618C>T) | gnomAD v4 COSMIC |
10 | g.49611818G>A | CA376722003 | CHAT,SLC18A3 | c.1078G>A (p.Gly360Ser) c.-69+2619G>A (n.-69+2619G>A) | dbSNP gnomAD v4 |
10 | g.49611818G>C | CA376722004 | CHAT,SLC18A3 | c.1078G>C (p.Gly360Arg) c.-69+2619G>C (n.-69+2619G>C) | dbSNP |
10 | g.49611818G= | CA1908794786 | CHAT,SLC18A3 | c.1078G= (p.Gly360=) c.-69+2619G= (n.-69+2619G=) | |
10 | g.49611818G>T | CA5496896 | CHAT,SLC18A3 | c.1078G>T (p.Gly360Cys) c.-69+2619G>T (n.-69+2619G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.49611819G>A | CA376722005 | CHAT,SLC18A3 | c.1079G>A (p.Gly360Asp) c.-69+2620G>A (n.-69+2620G>A) | |
10 | g.49611819G>C | CA376722006 | CHAT,SLC18A3 | c.1079G>C (p.Gly360Ala) c.-69+2620G>C (n.-69+2620G>C) | |
10 | g.49611819G>T | CA376722007 | CHAT,SLC18A3 | c.1079G>T (p.Gly360Val) c.-69+2620G>T (n.-69+2620G>T) | |
10 | g.49611820C>A | CA469791390 | CHAT,SLC18A3 | c.1080C>A (p.Gly360=) c.-69+2621C>A (n.-69+2621C>A) | gnomAD v4 |
10 | g.49611820C= | CA1908794798 | CHAT,SLC18A3 | c.1080C= (p.Gly360=) c.-69+2621C= (n.-69+2621C=) | |
10 | g.49611820C>G | CA469791392 | CHAT,SLC18A3 | c.1080C>G (p.Gly360=) c.-69+2621C>G (n.-69+2621C>G) | |
10 | g.49611820C>T | CA5496897 | CHAT,SLC18A3 | c.1080C>T (p.Gly360=) c.-69+2621C>T (n.-69+2621C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.49611821G>A | CA376722008 | CHAT,SLC18A3 | c.1081G>A (p.Ala361Thr) c.-69+2622G>A (n.-69+2622G>A) | dbSNP gnomAD v4 |
10 | g.49611821G>C | CA376722009 | CHAT,SLC18A3 | c.1081G>C (p.Ala361Pro) c.-69+2622G>C (n.-69+2622G>C) | |
10 | g.49611821G= | CA1908794804 | CHAT,SLC18A3 | c.1081G= (p.Ala361=) c.-69+2622G= (n.-69+2622G=) | |
10 | g.49611821G>T | CA5496898 | CHAT,SLC18A3 | c.1081G>T (p.Ala361Ser) c.-69+2622G>T (n.-69+2622G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.49611822C>A | CA376722010 | CHAT,SLC18A3 | c.1082C>A (p.Ala361Glu) c.-69+2623C>A (n.-69+2623C>A) | |
10 | g.49611822C>G | CA376722011 | CHAT,SLC18A3 | c.1082C>G (p.Ala361Gly) c.-69+2623C>G (n.-69+2623C>G) | |
10 | g.49611822C>T | CA376722012 | CHAT,SLC18A3 | c.1082C>T (p.Ala361Val) c.-69+2623C>T (n.-69+2623C>T) | gnomAD v4 COSMIC |
10 | g.49611823G>A | CA469791395 | CHAT,SLC18A3 | c.1083G>A (p.Ala361=) c.-69+2624G>A (n.-69+2624G>A) | dbSNP COSMIC |
10 | g.49611823G>C | CA469791396 | CHAT,SLC18A3 | c.1083G>C (p.Ala361=) c.-69+2624G>C (n.-69+2624G>C) | dbSNP gnomAD v4 |
10 | g.49611823G= | CA1908794809 | CHAT,SLC18A3 | c.1083G= (p.Ala361=) c.-69+2624G= (n.-69+2624G=) | |
10 | g.49611823G>T | CA206621384 | CHAT,SLC18A3 | c.1083G>T (p.Ala361=) c.-69+2624G>T (n.-69+2624G>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
10 | g.49611824C>A | CA376722013 | CHAT,SLC18A3 | c.1084C>A (p.Leu362Ile) c.-69+2625C>A (n.-69+2625C>A) | |
10 | g.49611824C= | CA1908794814 | CHAT,SLC18A3 | c.1084C= (p.Leu362=) c.-69+2625C= (n.-69+2625C=) | |
10 | g.49611824C>G | CA5496899 | CHAT,SLC18A3 | c.1084C>G (p.Leu362Val) c.-69+2625C>G (n.-69+2625C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
10 | g.49611824C>T | CA376722014 | CHAT,SLC18A3 | c.1084C>T (p.Leu362Phe) c.-69+2625C>T (n.-69+2625C>T) | |
10 | g.49611825T>A | CA376722015 | CHAT,SLC18A3 | c.1085T>A (p.Leu362His) c.-69+2626T>A (n.-69+2626T>A) | |
10 | g.49611825T>C | CA376722017 | CHAT,SLC18A3 | c.1085T>C (p.Leu362Pro) c.-69+2626T>C (n.-69+2626T>C) | |
10 | g.49611825T>G | CA376722016 | CHAT,SLC18A3 | c.1085T>G (p.Leu362Arg) c.-69+2626T>G (n.-69+2626T>G) | |
10 | g.49611826T>A | CA469791403 | CHAT,SLC18A3 | c.1086T>A (p.Leu362=) c.-69+2627T>A (n.-69+2627T>A) | gnomAD v4 |
10 | g.49611826T>C | CA469791406 | CHAT,SLC18A3 | c.1086T>C (p.Leu362=) c.-69+2627T>C (n.-69+2627T>C) | gnomAD v4 |
10 | g.49611826T>G | CA469791405 | CHAT,SLC18A3 | c.1086T>G (p.Leu362=) c.-69+2627T>G (n.-69+2627T>G) | |
10 | g.49611826_49611827delinsTG | CA1908794817 | CHAT,SLC18A3 | c.1086_1087delinsTG (p.Leu362=) c.-69+2627_-69+2628delinsTG (n.-69+2627_-69+2628delinsTG) | |
10 | g.49611827G>A | CA376722018 | CHAT,SLC18A3 | c.1087G>A (p.Gly363Arg) c.-69+2628G>A (n.-69+2628G>A) | |
10 | g.49611827G>C | CA376722019 | CHAT,SLC18A3 | c.1087G>C (p.Gly363Arg) c.-69+2628G>C (n.-69+2628G>C) | |
10 | g.49611827G>T | CA376722020 | CHAT,SLC18A3 | c.1087G>T (p.Gly363Trp) c.-69+2628G>T (n.-69+2628G>T) | gnomAD v4 |
10 | g.49611829del | CA5496900 | CHAT,SLC18A3 | c.1089del (p.Leu364TrpfsTer3) c.-69+2630del (n.-69+2630del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.49611828G>A | CA376722023 | CHAT,SLC18A3 | c.1088G>A (p.Gly363Glu) c.-69+2629G>A (n.-69+2629G>A) | |
10 | g.49611828G>C | CA376722021 | CHAT,SLC18A3 | c.1088G>C (p.Gly363Ala) c.-69+2629G>C (n.-69+2629G>C) | |
10 | g.49611828G>T | CA376722022 | CHAT,SLC18A3 | c.1088G>T (p.Gly363Val) c.-69+2629G>T (n.-69+2629G>T) | gnomAD v4 |
10 | g.49611829G>A | CA469791414 | CHAT,SLC18A3 | c.1089G>A (p.Gly363=) c.-69+2630G>A (n.-69+2630G>A) | gnomAD v4 |
10 | g.49611829G>C | CA469791412 | CHAT,SLC18A3 | c.1089G>C (p.Gly363=) c.-69+2630G>C (n.-69+2630G>C) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.49611829G= | CA1908794825 | CHAT,SLC18A3 | c.1089G= (p.Gly363=) c.-69+2630G= (n.-69+2630G=) | |
10 | g.49611829G>T | CA469791409 | CHAT,SLC18A3 | c.1089G>T (p.Gly363=) c.-69+2630G>T (n.-69+2630G>T) | gnomAD v4 |
10 | g.49611830C>A | CA376722024 | CHAT,SLC18A3 | c.1090C>A (p.Leu364Met) c.-69+2631C>A (n.-69+2631C>A) | |
10 | g.49611830C= | CA1908794826 | CHAT,SLC18A3 | c.1090C= (p.Leu364=) c.-69+2631C= (n.-69+2631C=) | |
10 | g.49611830C>G | CA376722025 | CHAT,SLC18A3 | c.1090C>G (p.Leu364Val) c.-69+2631C>G (n.-69+2631C>G) | |
10 | g.49611830C>T | CA206621391 | CHAT,SLC18A3 | c.1090C>T (p.Leu364=) c.-69+2631C>T (n.-69+2631C>T) | dbSNP gnomAD v2 |
10 | g.49611831T>A | CA376722026 | CHAT,SLC18A3 | c.1091T>A (p.Leu364Gln) c.-69+2632T>A (n.-69+2632T>A) | |
10 | g.49611831T>C | CA376722027 | CHAT,SLC18A3 | c.1091T>C (p.Leu364Pro) c.-69+2632T>C (n.-69+2632T>C) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.49611831T>G | CA376722028 | CHAT,SLC18A3 | c.1091T>G (p.Leu364Arg) c.-69+2632T>G (n.-69+2632T>G) | |
10 | g.49611831T= | CA1908794829 | CHAT,SLC18A3 | c.1091T= (p.Leu364=) c.-69+2632T= (n.-69+2632T=) | |
10 | g.49611832G>A | CA469791417 | CHAT,SLC18A3 | c.1092G>A (p.Leu364=) c.-69+2633G>A (n.-69+2633G>A) | |
10 | g.49611832G>C | CA5496901 | CHAT,SLC18A3 | c.1092G>C (p.Leu364=) c.-69+2633G>C (n.-69+2633G>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.49611832G= | CA1908794831 | CHAT,SLC18A3 | c.1092G= (p.Leu364=) c.-69+2633G= (n.-69+2633G=) | |
10 | g.49611832G>T | CA469791419 | CHAT,SLC18A3 | c.1092G>T (p.Leu364=) c.-69+2633G>T (n.-69+2633G>T) | dbSNP gnomAD v4 |
10 | g.49611833G>A | CA376722029 | CHAT,SLC18A3 | c.1093G>A (p.Ala365Thr) c.-69+2634G>A (n.-69+2634G>A) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.49611833G>C | CA376722030 | CHAT,SLC18A3 | c.1093G>C (p.Ala365Pro) c.-69+2634G>C (n.-69+2634G>C) | ClinVar dbSNP |
10 | g.49611833G= | CA1908794834 | CHAT,SLC18A3 | c.1093G= (p.Ala365=) c.-69+2634G= (n.-69+2634G=) | |
10 | g.49611833G>T | CA376722031 | CHAT,SLC18A3 | c.1093G>T (p.Ala365Ser) c.-69+2634G>T (n.-69+2634G>T) | gnomAD v4 |
10 | g.49611834C>A | CA376722032 | CHAT,SLC18A3 | c.1094C>A (p.Ala365Asp) c.-69+2635C>A (n.-69+2635C>A) | |
10 | g.49611834C= | CA1908794838 | CHAT,SLC18A3 | c.1094C= (p.Ala365=) c.-69+2635C= (n.-69+2635C=) | |
10 | g.49611834C>G | CA376722033 | CHAT,SLC18A3 | c.1094C>G (p.Ala365Gly) c.-69+2635C>G (n.-69+2635C>G) | |
10 | g.49611834C>T | CA376722034 | CHAT,SLC18A3 | c.1094C>T (p.Ala365Val) c.-69+2635C>T (n.-69+2635C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.49611835T>A | CA469791429 | CHAT,SLC18A3 | c.1095T>A (p.Ala365=) c.-69+2636T>A (n.-69+2636T>A) | |
10 | g.49611835T>C | CA469791426 | CHAT,SLC18A3 | c.1095T>C (p.Ala365=) c.-69+2636T>C (n.-69+2636T>C) | |
10 | g.49611835T>G | CA469791427 | CHAT,SLC18A3 | c.1095T>G (p.Ala365=) c.-69+2636T>G (n.-69+2636T>G) | COSMIC |
10 | g.49611836G>A | CA376722035 | CHAT,SLC18A3 | c.1096G>A (p.Val366Met) c.-69+2637G>A (n.-69+2637G>A) | |
10 | g.49611836G>C | CA376722037 | CHAT,SLC18A3 | c.1096G>C (p.Val366Leu) c.-69+2637G>C (n.-69+2637G>C) | |
10 | g.49611836G>T | CA376722036 | CHAT,SLC18A3 | c.1096G>T (p.Val366Leu) c.-69+2637G>T (n.-69+2637G>T) | gnomAD v4 |
10 | g.49611837T>A | CA376722038 | CHAT,SLC18A3 | c.1097T>A (p.Val366Glu) c.-69+2638T>A (n.-69+2638T>A) | |
10 | g.49611837T>C | CA376722039 | CHAT,SLC18A3 | c.1097T>C (p.Val366Ala) c.-69+2638T>C (n.-69+2638T>C) | |
10 | g.49611837T>G | CA376722040 | CHAT,SLC18A3 | c.1097T>G (p.Val366Gly) c.-69+2638T>G (n.-69+2638T>G) | |
10 | g.49611838G>A | CA469791433 | CHAT,SLC18A3 | c.1098G>A (p.Val366=) c.-69+2639G>A (n.-69+2639G>A) | |
10 | g.49611838G>C | CA469791434 | CHAT,SLC18A3 | c.1098G>C (p.Val366=) c.-69+2639G>C (n.-69+2639G>C) | |
10 | g.49611838G>T | CA469791437 | CHAT,SLC18A3 | c.1098G>T (p.Val366=) c.-69+2639G>T (n.-69+2639G>T) | gnomAD v4 |
10 | g.49611839A>C | CA376722041 | CHAT,SLC18A3 | c.1099A>C (p.Ile367Leu) c.-69+2640A>C (n.-69+2640A>C) | |
10 | g.49611839A>G | CA376722042 | CHAT,SLC18A3 | c.1099A>G (p.Ile367Val) c.-69+2640A>G (n.-69+2640A>G) | |
10 | g.49611839A>T | CA376722043 | CHAT,SLC18A3 | c.1099A>T (p.Ile367Phe) c.-69+2640A>T (n.-69+2640A>T) | |
10 | g.49611840T>A | CA376722044 | CHAT,SLC18A3 | c.1100T>A (p.Ile367Asn) c.-69+2641T>A (n.-69+2641T>A) | |
10 | g.49611840T>C | CA376722045 | CHAT,SLC18A3 | c.1100T>C (p.Ile367Thr) c.-69+2641T>C (n.-69+2641T>C) | dbSNP gnomAD v4 |
10 | g.49611840T>G | CA376722046 | CHAT,SLC18A3 | c.1100T>G (p.Ile367Ser) c.-69+2641T>G (n.-69+2641T>G) | |
10 | g.49611841C>A | CA469791442 | CHAT,SLC18A3 | c.1101C>A (p.Ile367=) c.-69+2642C>A (n.-69+2642C>A) | |
10 | g.49611841C>G | CA376722047 | CHAT,SLC18A3 | c.1101C>G (p.Ile367Met) c.-69+2642C>G (n.-69+2642C>G) | |
10 | g.49611841C>T | CA469791443 | CHAT,SLC18A3 | c.1101C>T (p.Ile367=) c.-69+2642C>T (n.-69+2642C>T) | ClinVar dbSNP gnomAD v4 |
10 | g.49611842G>A | CA376722048 | CHAT,SLC18A3 | c.1102G>A (p.Gly368Ser) c.-69+2643G>A (n.-69+2643G>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
10 | g.49611842G>C | CA376722049 | CHAT,SLC18A3 | c.1102G>C (p.Gly368Arg) c.-69+2643G>C (n.-69+2643G>C) | gnomAD v4 |
10 | g.49611842G= | CA1908794840 | CHAT,SLC18A3 | c.1102G= (p.Gly368=) c.-69+2643G= (n.-69+2643G=) | |
10 | g.49611842G>T | CA376722050 | CHAT,SLC18A3 | c.1102G>T (p.Gly368Cys) c.-69+2643G>T (n.-69+2643G>T) | gnomAD v4 |
10 | g.49611843G>A | CA376722053 | CHAT,SLC18A3 | c.1103G>A (p.Gly368Asp) c.-69+2644G>A (n.-69+2644G>A) | |
10 | g.49611843G>C | CA376722051 | CHAT,SLC18A3 | c.1103G>C (p.Gly368Ala) c.-69+2644G>C (n.-69+2644G>C) | |
10 | g.49611843G>T | CA376722052 | CHAT,SLC18A3 | c.1103G>T (p.Gly368Val) c.-69+2644G>T (n.-69+2644G>T) | gnomAD v4 |
10 | g.49611843_49611844insGGCTGGCTGTGAT | CA2609117158 | CHAT,SLC18A3 | c.1103_1104insGGCTGGCTGTGAT (p.Ser370GlyfsTer?) c.-69+2644_-69+2645insGGCTGGCTGTGAT (n.-69+2644_-69+2645insGGCTGGCTGTGAT) | gnomAD v4 |
10 | g.49611844C>A | CA469791446 | CHAT,SLC18A3 | c.1104C>A (p.Gly368=) c.-69+2645C>A (n.-69+2645C>A) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.49611844C= | CA1908794843 | CHAT,SLC18A3 | c.1104C= (p.Gly368=) c.-69+2645C= (n.-69+2645C=) | |
10 | g.49611844C>G | CA469791448 | CHAT,SLC18A3 | c.1104C>G (p.Gly368=) c.-69+2645C>G (n.-69+2645C>G) | |
10 | g.49611844C>T | CA469791444 | CHAT,SLC18A3 | c.1104C>T (p.Gly368=) c.-69+2645C>T (n.-69+2645C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
10 | g.49611845G>A | CA376722054 | CHAT,SLC18A3 | c.1105G>A (p.Ala369Thr) c.-69+2646G>A (n.-69+2646G>A) | gnomAD v4 |
10 | g.49611845G>C | CA376722055 | CHAT,SLC18A3 | c.1105G>C (p.Ala369Pro) c.-69+2646G>C (n.-69+2646G>C) | |
10 | g.49611845G>T | CA376722056 | CHAT,SLC18A3 | c.1105G>T (p.Ala369Ser) c.-69+2646G>T (n.-69+2646G>T) | gnomAD v4 |
10 | g.49611845_49611846insGCC | CA2609117183 | CHAT,SLC18A3 | c.1105_1106insGCC (p.Ala369delinsGlyPro) c.-69+2646_-69+2647insGCC (n.-69+2646_-69+2647insGCC) | gnomAD v4 |
10 | g.49611846C>A | CA376722057 | CHAT,SLC18A3 | c.1106C>A (p.Ala369Asp) c.-69+2647C>A (n.-69+2647C>A) | |
10 | g.49611846C>G | CA376722058 | CHAT,SLC18A3 | c.1106C>G (p.Ala369Gly) c.-69+2647C>G (n.-69+2647C>G) | |
10 | g.49611846C>T | CA376722059 | CHAT,SLC18A3 | c.1106C>T (p.Ala369Val) c.-69+2647C>T (n.-69+2647C>T) | |
10 | g.49611847C>A | CA469791449 | CHAT,SLC18A3 | c.1107C>A (p.Ala369=) c.-69+2648C>A (n.-69+2648C>A) | |
10 | g.49611847C= | CA1908794847 | CHAT,SLC18A3 | c.1107C= (p.Ala369=) c.-69+2648C= (n.-69+2648C=) | |
10 | g.49611847C>G | CA469791454 | CHAT,SLC18A3 | c.1107C>G (p.Ala369=) c.-69+2648C>G (n.-69+2648C>G) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.49611847C>T | CA469791452 | CHAT,SLC18A3 | c.1107C>T (p.Ala369=) c.-69+2648C>T (n.-69+2648C>T) | |
10 | g.49611848A= | CA1908794854 | CHAT,SLC18A3 | c.1108A= (p.Ser370=) c.-69+2649A= (n.-69+2649A=) | |
10 | g.49611848A>C | CA376722060 | CHAT,SLC18A3 | c.1108A>C (p.Ser370Arg) c.-69+2649A>C (n.-69+2649A>C) | |
10 | g.49611848A>G | CA376722061 | CHAT,SLC18A3 | c.1108A>G (p.Ser370Gly) c.-69+2649A>G (n.-69+2649A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.49611848A>T | CA376722062 | CHAT,SLC18A3 | c.1108A>T (p.Ser370Cys) c.-69+2649A>T (n.-69+2649A>T) | |
10 | g.49611849G>A | CA5496902 | CHAT,SLC18A3 | c.1109G>A (p.Ser370Asn) c.-69+2650G>A (n.-69+2650G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.49611849G>C | CA376722063 | CHAT,SLC18A3 | c.1109G>C (p.Ser370Thr) c.-69+2650G>C (n.-69+2650G>C) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.49611849G= | CA1908794861 | CHAT,SLC18A3 | c.1109G= (p.Ser370=) c.-69+2650G= (n.-69+2650G=) | |
10 | g.49611849G>T | CA376722064 | CHAT,SLC18A3 | c.1109G>T (p.Ser370Ile) c.-69+2650G>T (n.-69+2650G>T) | ClinVar dbSNP gnomAD v4 |
10 | g.49611850C>A | CA376722066 | CHAT,SLC18A3 | c.1110C>A (p.Ser370Arg) c.-69+2651C>A (n.-69+2651C>A) | gnomAD v4 |
10 | g.49611850C>G | CA376722065 | CHAT,SLC18A3 | c.1110C>G (p.Ser370Arg) c.-69+2651C>G (n.-69+2651C>G) | gnomAD v4 |
10 | g.49611850C>T | CA469791459 | CHAT,SLC18A3 | c.1110C>T (p.Ser370=) c.-69+2651C>T (n.-69+2651C>T) | gnomAD v4 |
10 | g.49611851T>A | CA376722067 | CHAT,SLC18A3 | c.1111T>A (p.Ser371Thr) c.-69+2652T>A (n.-69+2652T>A) | |
10 | g.49611851T>C | CA376722069 | CHAT,SLC18A3 | c.1111T>C (p.Ser371Pro) c.-69+2652T>C (n.-69+2652T>C) | |
10 | g.49611851T>G | CA376722068 | CHAT,SLC18A3 | c.1111T>G (p.Ser371Ala) c.-69+2652T>G (n.-69+2652T>G) | gnomAD v4 |
10 | g.49611852C>A | CA376722070 | CHAT,SLC18A3 | c.1112C>A (p.Ser371Ter) c.-69+2653C>A (n.-69+2653C>A) | gnomAD v4 |
10 | g.49611852C>G | CA376722072 | CHAT,SLC18A3 | c.1112C>G (p.Ser371Trp) c.-69+2653C>G (n.-69+2653C>G) | gnomAD v4 |
10 | g.49611852C>T | CA376722071 | CHAT,SLC18A3 | c.1112C>T (p.Ser371Leu) c.-69+2653C>T (n.-69+2653C>T) | |
10 | g.49611853G>A | CA469791470 | CHAT,SLC18A3 | c.1113G>A (p.Ser371=) c.-69+2654G>A (n.-69+2654G>A) | |
10 | g.49611853G>C | CA469791467 | CHAT,SLC18A3 | c.1113G>C (p.Ser371=) c.-69+2654G>C (n.-69+2654G>C) | gnomAD v4 |
10 | g.49611853G= | CA1908794865 | CHAT,SLC18A3 | c.1113G= (p.Ser371=) c.-69+2654G= (n.-69+2654G=) | |
10 | g.49611853G>T | CA469791468 | CHAT,SLC18A3 | c.1113G>T (p.Ser371=) c.-69+2654G>T (n.-69+2654G>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
10 | g.49611854T>A | CA376722073 | CHAT,SLC18A3 | c.1114T>A (p.Cys372Ser) c.-69+2655T>A (n.-69+2655T>A) | |
10 | g.49611854T>C | CA376722074 | CHAT,SLC18A3 | c.1114T>C (p.Cys372Arg) c.-69+2655T>C (n.-69+2655T>C) | dbSNP |
10 | g.49611854T>G | CA376722075 | CHAT,SLC18A3 | c.1114T>G (p.Cys372Gly) c.-69+2655T>G (n.-69+2655T>G) | dbSNP gnomAD v2 |
10 | g.49611854T= | CA1908794869 | CHAT,SLC18A3 | c.1114T= (p.Cys372=) c.-69+2655T= (n.-69+2655T=) |