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