Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
10 | g.49611719A>C | CA376721553 | CHAT,SLC18A3 | c.979A>C (p.Met327Leu) c.-69+2520A>C (n.-69+2520A>C) | |
10 | g.49611719A>G | CA376721555 | CHAT,SLC18A3 | c.979A>G (p.Met327Val) c.-69+2520A>G (n.-69+2520A>G) | |
10 | g.49611719A>T | CA376721557 | CHAT,SLC18A3 | c.979A>T (p.Met327Leu) c.-69+2520A>T (n.-69+2520A>T) | |
10 | g.49611720T>A | CA376721559 | CHAT,SLC18A3 | c.980T>A (p.Met327Lys) c.-69+2521T>A (n.-69+2521T>A) | |
10 | g.49611720T>C | CA376721561 | CHAT,SLC18A3 | c.980T>C (p.Met327Thr) c.-69+2521T>C (n.-69+2521T>C) | |
10 | g.49611720T>G | CA376721563 | CHAT,SLC18A3 | c.980T>G (p.Met327Arg) c.-69+2521T>G (n.-69+2521T>G) | |
10 | g.49611721G>A | CA376721570 | CHAT,SLC18A3 | c.981G>A (p.Met327Ile) c.-69+2522G>A (n.-69+2522G>A) | gnomAD v4 |
10 | g.49611721G>C | CA376721568 | CHAT,SLC18A3 | c.981G>C (p.Met327Ile) c.-69+2522G>C (n.-69+2522G>C) | |
10 | g.49611721G>T | CA376721567 | CHAT,SLC18A3 | c.981G>T (p.Met327Ile) c.-69+2522G>T (n.-69+2522G>T) | dbSNP gnomAD v4 |
10 | g.49611722G>A | CA376721574 | CHAT,SLC18A3 | c.982G>A (p.Gly328Ser) c.-69+2523G>A (n.-69+2523G>A) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.49611722G>C | CA376721576 | CHAT,SLC18A3 | c.982G>C (p.Gly328Arg) c.-69+2523G>C (n.-69+2523G>C) | gnomAD v4 |
10 | g.49611722G= | CA1908794547 | CHAT,SLC18A3 | c.982G= (p.Gly328=) c.-69+2523G= (n.-69+2523G=) | |
10 | g.49611722G>T | CA376721578 | CHAT,SLC18A3 | c.982G>T (p.Gly328Cys) c.-69+2523G>T (n.-69+2523G>T) | gnomAD v4 |
10 | g.49611723G>A | CA376721581 | CHAT,SLC18A3 | c.983G>A (p.Gly328Asp) c.-69+2524G>A (n.-69+2524G>A) | gnomAD v4 |
10 | g.49611723G>C | CA376721583 | CHAT,SLC18A3 | c.983G>C (p.Gly328Ala) c.-69+2524G>C (n.-69+2524G>C) | |
10 | g.49611723G>T | CA376721585 | CHAT,SLC18A3 | c.983G>T (p.Gly328Val) c.-69+2524G>T (n.-69+2524G>T) | gnomAD v4 |
10 | g.49611724C>A | CA469791404 | CHAT,SLC18A3 | c.984C>A (p.Gly328=) c.-69+2525C>A (n.-69+2525C>A) | |
10 | g.49611724C= | CA1908794548 | CHAT,SLC18A3 | c.984C= (p.Gly328=) c.-69+2525C= (n.-69+2525C=) | |
10 | g.49611724C>G | CA469791402 | CHAT,SLC18A3 | c.984C>G (p.Gly328=) c.-69+2525C>G (n.-69+2525C>G) | |
10 | g.49611724C>T | CA206621328 | CHAT,SLC18A3 | c.984C>T (p.Gly328=) c.-69+2525C>T (n.-69+2525C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.49611725A= | CA1908794549 | CHAT,SLC18A3 | c.985A= (p.Met329=) c.-69+2526A= (n.-69+2526A=) | |
10 | g.49611725A>C | CA376721591 | CHAT,SLC18A3 | c.985A>C (p.Met329Leu) c.-69+2526A>C (n.-69+2526A>C) | |
10 | g.49611725A>G | CA376721593 | CHAT,SLC18A3 | c.985A>G (p.Met329Val) c.-69+2526A>G (n.-69+2526A>G) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.49611725A>T | CA376721595 | CHAT,SLC18A3 | c.985A>T (p.Met329Leu) c.-69+2526A>T (n.-69+2526A>T) | ClinVar |
10 | g.49611726T>A | CA376721597 | CHAT,SLC18A3 | c.986T>A (p.Met329Lys) c.-69+2527T>A (n.-69+2527T>A) | |
10 | g.49611726T>C | CA376721598 | CHAT,SLC18A3 | c.986T>C (p.Met329Thr) c.-69+2527T>C (n.-69+2527T>C) | gnomAD v4 |
10 | g.49611726T>G | CA376721600 | CHAT,SLC18A3 | c.986T>G (p.Met329Arg) c.-69+2527T>G (n.-69+2527T>G) | |
10 | g.49611727G>A | CA376721609 | CHAT,SLC18A3 | c.987G>A (p.Met329Ile) c.-69+2528G>A (n.-69+2528G>A) | dbSNP gnomAD v2 |
10 | g.49611727G>C | CA376721604 | CHAT,SLC18A3 | c.987G>C (p.Met329Ile) c.-69+2528G>C (n.-69+2528G>C) | |
10 | g.49611727G= | CA1908794550 | CHAT,SLC18A3 | c.987G= (p.Met329=) c.-69+2528G= (n.-69+2528G=) | |
10 | g.49611727G>T | CA376721606 | CHAT,SLC18A3 | c.987G>T (p.Met329Ile) c.-69+2528G>T (n.-69+2528G>T) | dbSNP |
10 | g.49611728G>A | CA376721611 | CHAT,SLC18A3 | c.988G>A (p.Ala330Thr) c.-69+2529G>A (n.-69+2529G>A) | gnomAD v4 |
10 | g.49611728G>C | CA376721613 | CHAT,SLC18A3 | c.988G>C (p.Ala330Pro) c.-69+2529G>C (n.-69+2529G>C) | |
10 | g.49611728G>T | CA376721615 | CHAT,SLC18A3 | c.988G>T (p.Ala330Ser) c.-69+2529G>T (n.-69+2529G>T) | ClinVar gnomAD v4 |
10 | g.49611729C>A | CA376721619 | CHAT,SLC18A3 | c.989C>A (p.Ala330Asp) c.-69+2530C>A (n.-69+2530C>A) | gnomAD v4 |
10 | g.49611729C>G | CA376721621 | CHAT,SLC18A3 | c.989C>G (p.Ala330Gly) c.-69+2530C>G (n.-69+2530C>G) | |
10 | g.49611729C>T | CA376721623 | CHAT,SLC18A3 | c.989C>T (p.Ala330Val) c.-69+2530C>T (n.-69+2530C>T) | gnomAD v4 |
10 | g.49611730del | CA2609116799 | CHAT,SLC18A3 | c.990del (p.Trp331GlyfsTer?) c.-69+2531del (n.-69+2531del) | gnomAD v4 |
10 | g.49611730C>A | CA469791410 | CHAT,SLC18A3 | c.990C>A (p.Ala330=) c.-69+2531C>A (n.-69+2531C>A) | |
10 | g.49611730C>G | CA469791413 | CHAT,SLC18A3 | c.990C>G (p.Ala330=) c.-69+2531C>G (n.-69+2531C>G) | |
10 | g.49611730C>T | CA469791411 | CHAT,SLC18A3 | c.990C>T (p.Ala330=) c.-69+2531C>T (n.-69+2531C>T) | |
10 | g.49611731T>A | CA376721627 | CHAT,SLC18A3 | c.991T>A (p.Trp331Arg) c.-69+2532T>A (n.-69+2532T>A) | |
10 | g.49611731T>C | CA376721630 | CHAT,SLC18A3 | c.991T>C (p.Trp331Arg) c.-69+2532T>C (n.-69+2532T>C) | |
10 | g.49611731T>G | CA376721632 | CHAT,SLC18A3 | c.991T>G (p.Trp331Gly) c.-69+2532T>G (n.-69+2532T>G) | gnomAD v4 |
10 | g.49611732G>A | CA376721636 | CHAT,SLC18A3 | c.992G>A (p.Trp331Ter) c.-69+2533G>A (n.-69+2533G>A) | |
10 | g.49611732G>C | CA376721638 | CHAT,SLC18A3 | c.992G>C (p.Trp331Ser) c.-69+2533G>C (n.-69+2533G>C) | |
10 | g.49611732G>T | CA376721640 | CHAT,SLC18A3 | c.992G>T (p.Trp331Leu) c.-69+2533G>T (n.-69+2533G>T) | gnomAD v4 |
10 | g.49611733G>A | CA376721646 | CHAT,SLC18A3 | c.993G>A (p.Trp331Ter) c.-69+2534G>A (n.-69+2534G>A) | gnomAD v4 |
10 | g.49611733G>C | CA376721648 | CHAT,SLC18A3 | c.993G>C (p.Trp331Cys) c.-69+2534G>C (n.-69+2534G>C) | |
10 | g.49611733G>T | CA376721644 | CHAT,SLC18A3 | c.993G>T (p.Trp331Cys) c.-69+2534G>T (n.-69+2534G>T) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.49611734C>A | CA376721654 | CHAT,SLC18A3 | c.994C>A (p.Leu332Met) c.-69+2535C>A (n.-69+2535C>A) | gnomAD v4 |
10 | g.49611734C= | CA1908794554 | CHAT,SLC18A3 | c.994C= (p.Leu332=) c.-69+2535C= (n.-69+2535C=) | |
10 | g.49611734C>G | CA376721652 | CHAT,SLC18A3 | c.994C>G (p.Leu332Val) c.-69+2535C>G (n.-69+2535C>G) | |
10 | g.49611734C>T | CA469791416 | CHAT,SLC18A3 | c.994C>T (p.Leu332=) c.-69+2535C>T (n.-69+2535C>T) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.49611735T>A | CA376721657 | CHAT,SLC18A3 | c.995T>A (p.Leu332Gln) c.-69+2536T>A (n.-69+2536T>A) | |
10 | g.49611735T>C | CA376721659 | CHAT,SLC18A3 | c.995T>C (p.Leu332Pro) c.-69+2536T>C (n.-69+2536T>C) | |
10 | g.49611735T>G | CA376721661 | CHAT,SLC18A3 | c.995T>G (p.Leu332Arg) c.-69+2536T>G (n.-69+2536T>G) | |
10 | g.49611736G>A | CA469791420 | CHAT,SLC18A3 | c.996G>A (p.Leu332=) c.-69+2537G>A (n.-69+2537G>A) | gnomAD v4 |
10 | g.49611736G>C | CA469791421 | CHAT,SLC18A3 | c.996G>C (p.Leu332=) c.-69+2537G>C (n.-69+2537G>C) | |
10 | g.49611736G>T | CA469791422 | CHAT,SLC18A3 | c.996G>T (p.Leu332=) c.-69+2537G>T (n.-69+2537G>T) | gnomAD v4 |
10 | g.49611737C>A | CA376721665 | CHAT,SLC18A3 | c.997C>A (p.Pro333Thr) c.-69+2538C>A (n.-69+2538C>A) | |
10 | g.49611737C>G | CA376721667 | CHAT,SLC18A3 | c.997C>G (p.Pro333Ala) c.-69+2538C>G (n.-69+2538C>G) | |
10 | g.49611737C>T | CA376721670 | CHAT,SLC18A3 | c.997C>T (p.Pro333Ser) c.-69+2538C>T (n.-69+2538C>T) | gnomAD v4 |
10 | g.49611738C>A | CA376721672 | CHAT,SLC18A3 | c.998C>A (p.Pro333Gln) c.-69+2539C>A (n.-69+2539C>A) | |
10 | g.49611738C= | CA1908794559 | CHAT,SLC18A3 | c.998C= (p.Pro333=) c.-69+2539C= (n.-69+2539C=) | |
10 | g.49611738C>G | CA376721675 | CHAT,SLC18A3 | c.998C>G (p.Pro333Arg) c.-69+2539C>G (n.-69+2539C>G) | gnomAD v4 |
10 | g.49611738C>T | CA376721676 | CHAT,SLC18A3 | c.998C>T (p.Pro333Leu) c.-69+2539C>T (n.-69+2539C>T) | dbSNP gnomAD v4 |
10 | g.49611739G>A | CA469791431 | CHAT,SLC18A3 | c.999G>A (p.Pro333=) c.-69+2540G>A (n.-69+2540G>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
10 | g.49611739G>C | CA469791432 | CHAT,SLC18A3 | c.999G>C (p.Pro333=) c.-69+2540G>C (n.-69+2540G>C) | |
10 | g.49611739G= | CA1908794565 | CHAT,SLC18A3 | c.999G= (p.Pro333=) c.-69+2540G= (n.-69+2540G=) | |
10 | g.49611739G>T | CA469791430 | CHAT,SLC18A3 | c.999G>T (p.Pro333=) c.-69+2540G>T (n.-69+2540G>T) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.49611740G>A | CA376721680 | CHAT,SLC18A3 | c.1000G>A (p.Ala334Thr) c.-69+2541G>A (n.-69+2541G>A) | dbSNP COSMIC |
10 | g.49611740G>C | CA376721682 | CHAT,SLC18A3 | c.1000G>C (p.Ala334Pro) c.-69+2541G>C (n.-69+2541G>C) | |
10 | g.49611740G= | CA1908794567 | CHAT,SLC18A3 | c.1000G= (p.Ala334=) c.-69+2541G= (n.-69+2541G=) | |
10 | g.49611740G>T | CA376721684 | CHAT,SLC18A3 | c.1000G>T (p.Ala334Ser) c.-69+2541G>T (n.-69+2541G>T) | gnomAD v4 |
10 | g.49611741C>A | CA376721691 | CHAT,SLC18A3 | c.1001C>A (p.Ala334Asp) c.-69+2542C>A (n.-69+2542C>A) | dbSNP |
10 | g.49611741C= | CA1908794571 | CHAT,SLC18A3 | c.1001C= (p.Ala334=) c.-69+2542C= (n.-69+2542C=) | |
10 | g.49611741C>G | CA376721687 | CHAT,SLC18A3 | c.1001C>G (p.Ala334Gly) c.-69+2542C>G (n.-69+2542C>G) | |
10 | g.49611741C>T | CA376721689 | CHAT,SLC18A3 | c.1001C>T (p.Ala334Val) c.-69+2542C>T (n.-69+2542C>T) | dbSNP gnomAD v2 |
10 | g.49611742C>A | CA469791440 | CHAT,SLC18A3 | c.1002C>A (p.Ala334=) c.-69+2543C>A (n.-69+2543C>A) | gnomAD v4 |
10 | g.49611742C>G | CA469791438 | CHAT,SLC18A3 | c.1002C>G (p.Ala334=) c.-69+2543C>G (n.-69+2543C>G) | |
10 | g.49611742C>T | CA469791436 | CHAT,SLC18A3 | c.1002C>T (p.Ala334=) c.-69+2543C>T (n.-69+2543C>T) | |
10 | g.49611743_49611752del | CA2609116831 | CHAT,SLC18A3 | c.1003_1012del (p.Phe335MetfsTer29) c.-69+2544_-69+2553del (n.-69+2544_-69+2553del) | gnomAD v4 |
10 | g.49611743T>A | CA376721694 | CHAT,SLC18A3 | c.1003T>A (p.Phe335Ile) c.-69+2544T>A (n.-69+2544T>A) | dbSNP |
10 | g.49611743T>C | CA376721696 | CHAT,SLC18A3 | c.1003T>C (p.Phe335Leu) c.-69+2544T>C (n.-69+2544T>C) | gnomAD v4 |
10 | g.49611743T>G | CA376721699 | CHAT,SLC18A3 | c.1003T>G (p.Phe335Val) c.-69+2544T>G (n.-69+2544T>G) | |
10 | g.49611743T= | CA1908794574 | CHAT,SLC18A3 | c.1003T= (p.Phe335=) c.-69+2544T= (n.-69+2544T=) | |
10 | g.49611744T>A | CA376721702 | CHAT,SLC18A3 | c.1004T>A (p.Phe335Tyr) c.-69+2545T>A (n.-69+2545T>A) | |
10 | g.49611744T>C | CA376721704 | CHAT,SLC18A3 | c.1004T>C (p.Phe335Ser) c.-69+2545T>C (n.-69+2545T>C) | |
10 | g.49611744T>G | CA376721706 | CHAT,SLC18A3 | c.1004T>G (p.Phe335Cys) c.-69+2545T>G (n.-69+2545T>G) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.49611744T= | CA1908794578 | CHAT,SLC18A3 | c.1004T= (p.Phe335=) c.-69+2545T= (n.-69+2545T=) | |
10 | g.49611745C>A | CA376721710 | CHAT,SLC18A3 | c.1005C>A (p.Phe335Leu) c.-69+2546C>A (n.-69+2546C>A) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.49611745C= | CA1908794581 | CHAT,SLC18A3 | c.1005C= (p.Phe335=) c.-69+2546C= (n.-69+2546C=) | |
10 | g.49611745C>G | CA376721712 | CHAT,SLC18A3 | c.1005C>G (p.Phe335Leu) c.-69+2546C>G (n.-69+2546C>G) | |
10 | g.49611745C>T | CA5496883 | CHAT,SLC18A3 | c.1005C>T (p.Phe335=) c.-69+2546C>T (n.-69+2546C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
10 | g.49611746G>A | CA376721717 | CHAT,SLC18A3 | c.1006G>A (p.Val336Met) c.-69+2547G>A (n.-69+2547G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.49611746G>C | CA206621334 | CHAT,SLC18A3 | c.1006G>C (p.Val336Leu) c.-69+2547G>C (n.-69+2547G>C) | dbSNP |
10 | g.49611746G= | CA1908794593 | CHAT,SLC18A3 | c.1006G= (p.Val336=) c.-69+2547G= (n.-69+2547G=) | |
10 | g.49611746G>T | CA376721721 | CHAT,SLC18A3 | c.1006G>T (p.Val336Leu) c.-69+2547G>T (n.-69+2547G>T) | gnomAD v4 |
10 | g.49611747T>A | CA376721729 | CHAT,SLC18A3 | c.1007T>A (p.Val336Glu) c.-69+2548T>A (n.-69+2548T>A) | |
10 | g.49611747T>C | CA376721727 | CHAT,SLC18A3 | c.1007T>C (p.Val336Ala) c.-69+2548T>C (n.-69+2548T>C) | COSMIC |
10 | g.49611747T>G | CA376721725 | CHAT,SLC18A3 | c.1007T>G (p.Val336Gly) c.-69+2548T>G (n.-69+2548T>G) | |
10 | g.49611748G>A | CA5496884 | CHAT,SLC18A3 | c.1008G>A (p.Val336=) c.-69+2549G>A (n.-69+2549G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.49611748G>C | CA469791453 | CHAT,SLC18A3 | c.1008G>C (p.Val336=) c.-69+2549G>C (n.-69+2549G>C) | |
10 | g.49611748G= | CA1908794598 | CHAT,SLC18A3 | c.1008G= (p.Val336=) c.-69+2549G= (n.-69+2549G=) | |
10 | g.49611748G>T | CA469791456 | CHAT,SLC18A3 | c.1008G>T (p.Val336=) c.-69+2549G>T (n.-69+2549G>T) | gnomAD v4 |
10 | g.49611749C>A | CA376721734 | CHAT,SLC18A3 | c.1009C>A (p.Pro337Thr) c.-69+2550C>A (n.-69+2550C>A) | |
10 | g.49611749C>G | CA376721735 | CHAT,SLC18A3 | c.1009C>G (p.Pro337Ala) c.-69+2550C>G (n.-69+2550C>G) | |
10 | g.49611749C>T | CA376721738 | CHAT,SLC18A3 | c.1009C>T (p.Pro337Ser) c.-69+2550C>T (n.-69+2550C>T) | |
10 | g.49611750C>A | CA376721741 | CHAT,SLC18A3 | c.1010C>A (p.Pro337His) c.-69+2551C>A (n.-69+2551C>A) | |
10 | g.49611750C>G | CA376721744 | CHAT,SLC18A3 | c.1010C>G (p.Pro337Arg) c.-69+2551C>G (n.-69+2551C>G) | |
10 | g.49611750C>T | CA376721746 | CHAT,SLC18A3 | c.1010C>T (p.Pro337Leu) c.-69+2551C>T (n.-69+2551C>T) | |
10 | g.49611751del | CA2549650053 | CHAT,SLC18A3 | c.1011del (p.His338MetfsTer29) c.-69+2552del (n.-69+2552del) | |
10 | g.49611751T>A | CA469791462 | CHAT,SLC18A3 | c.1011T>A (p.Pro337=) c.-69+2552T>A (n.-69+2552T>A) | |
10 | g.49611751T>C | CA469791464 | CHAT,SLC18A3 | c.1011T>C (p.Pro337=) c.-69+2552T>C (n.-69+2552T>C) | |
10 | g.49611751T>G | CA469791460 | CHAT,SLC18A3 | c.1011T>G (p.Pro337=) c.-69+2552T>G (n.-69+2552T>G) | |
10 | g.49611752C>A | CA376721753 | CHAT,SLC18A3 | c.1012C>A (p.His338Asn) c.-69+2553C>A (n.-69+2553C>A) | gnomAD v4 |
10 | g.49611752C>G | CA376721749 | CHAT,SLC18A3 | c.1012C>G (p.His338Asp) c.-69+2553C>G (n.-69+2553C>G) | |
10 | g.49611752C>T | CA376721751 | CHAT,SLC18A3 | c.1012C>T (p.His338Tyr) c.-69+2553C>T (n.-69+2553C>T) | |
10 | g.49611753A>C | CA376721756 | CHAT,SLC18A3 | c.1013A>C (p.His338Pro) c.-69+2554A>C (n.-69+2554A>C) | gnomAD v4 |
10 | g.49611753A>G | CA376721758 | CHAT,SLC18A3 | c.1013A>G (p.His338Arg) c.-69+2554A>G (n.-69+2554A>G) | |
10 | g.49611753A>T | CA376721760 | CHAT,SLC18A3 | c.1013A>T (p.His338Leu) c.-69+2554A>T (n.-69+2554A>T) | |
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.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) |