Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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) |