Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
10 | g.49611944C>A | CA376722251 | CHAT,SLC18A3 | c.1204C>A (p.Leu402Met) c.-69+2745C>A (n.-69+2745C>A) | |
10 | g.49611944C>G | CA376722252 | CHAT,SLC18A3 | c.1204C>G (p.Leu402Val) c.-69+2745C>G (n.-69+2745C>G) | |
10 | g.49611944C>T | CA469791777 | CHAT,SLC18A3 | c.1204C>T (p.Leu402=) c.-69+2745C>T (n.-69+2745C>T) | gnomAD v4 |
10 | g.49611945T>A | CA376722255 | CHAT,SLC18A3 | c.1205T>A (p.Leu402Gln) c.-69+2746T>A (n.-69+2746T>A) | |
10 | g.49611945T>C | CA376722254 | CHAT,SLC18A3 | c.1205T>C (p.Leu402Pro) c.-69+2746T>C (n.-69+2746T>C) | |
10 | g.49611945T>G | CA376722253 | CHAT,SLC18A3 | c.1205T>G (p.Leu402Arg) c.-69+2746T>G (n.-69+2746T>G) | |
10 | g.49611946G>A | CA469791782 | CHAT,SLC18A3 | c.1206G>A (p.Leu402=) c.-69+2747G>A (n.-69+2747G>A) | gnomAD v4 |
10 | g.49611946G>C | CA469791784 | CHAT,SLC18A3 | c.1206G>C (p.Leu402=) c.-69+2747G>C (n.-69+2747G>C) | |
10 | g.49611946G= | CA1908795069 | CHAT,SLC18A3 | c.1206G= (p.Leu402=) c.-69+2747G= (n.-69+2747G=) | |
10 | g.49611946G>T | CA469791785 | CHAT,SLC18A3 | c.1206G>T (p.Leu402=) c.-69+2747G>T (n.-69+2747G>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
10 | g.49611947C>A | CA5496921 | CHAT,SLC18A3 | c.1207C>A (p.Pro403Thr) c.-69+2748C>A (n.-69+2748C>A) | dbSNP ExAC gnomAD v2 |
10 | g.49611947C= | CA1908795072 | CHAT,SLC18A3 | c.1207C= (p.Pro403=) c.-69+2748C= (n.-69+2748C=) | |
10 | g.49611947C>G | CA376722256 | CHAT,SLC18A3 | c.1207C>G (p.Pro403Ala) c.-69+2748C>G (n.-69+2748C>G) | |
10 | g.49611947C>T | CA376722257 | CHAT,SLC18A3 | c.1207C>T (p.Pro403Ser) c.-69+2748C>T (n.-69+2748C>T) | gnomAD v4 |
10 | g.49611947_49611950delinsCCCA | CA1908795073 | CHAT,SLC18A3 | c.1207_1210delinsCCCA (p.Pro403=) c.-69+2748_-69+2751delinsCCCA (n.-69+2748_-69+2751delinsCCCA) | |
10 | g.49611948C>A | CA376722258 | CHAT,SLC18A3 | c.1208C>A (p.Pro403His) c.-69+2749C>A (n.-69+2749C>A) | |
10 | g.49611948C>G | CA376722259 | CHAT,SLC18A3 | c.1208C>G (p.Pro403Arg) c.-69+2749C>G (n.-69+2749C>G) | |
10 | g.49611948C>T | CA376722260 | CHAT,SLC18A3 | c.1208C>T (p.Pro403Leu) c.-69+2749C>T (n.-69+2749C>T) | |
10 | g.49611949_49611951del | CA1908795077 | CHAT,SLC18A3 | c.1209_1211del (p.Thr404del) c.-69+2750_-69+2752del (n.-69+2750_-69+2752del) | dbSNP |
10 | g.49611949C>A | CA469791790 | CHAT,SLC18A3 | c.1209C>A (p.Pro403=) c.-69+2750C>A (n.-69+2750C>A) | |
10 | g.49611949C>G | CA469791792 | CHAT,SLC18A3 | c.1209C>G (p.Pro403=) c.-69+2750C>G (n.-69+2750C>G) | |
10 | g.49611949C>T | CA469791791 | CHAT,SLC18A3 | c.1209C>T (p.Pro403=) c.-69+2750C>T (n.-69+2750C>T) | |
10 | g.49611950A= | CA1908795080 | CHAT,SLC18A3 | c.1210A= (p.Thr404=) c.-69+2751A= (n.-69+2751A=) | |
10 | g.49611950A>C | CA376722261 | CHAT,SLC18A3 | c.1210A>C (p.Thr404Pro) c.-69+2751A>C (n.-69+2751A>C) | |
10 | g.49611950A>G | CA376722262 | CHAT,SLC18A3 | c.1210A>G (p.Thr404Ala) c.-69+2751A>G (n.-69+2751A>G) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
10 | g.49611950A>T | CA376722263 | CHAT,SLC18A3 | c.1210A>T (p.Thr404Ser) c.-69+2751A>T (n.-69+2751A>T) | |
10 | g.49611950_49611951insTGTGT | CA1908795084 | CHAT,SLC18A3 | c.1210_1211insTGTGT (p.Thr404MetfsTer?) c.-69+2751_-69+2752insTGTGT (n.-69+2751_-69+2752insTGTGT) | dbSNP |
10 | g.49611951C>A | CA376722265 | CHAT,SLC18A3 | c.1211C>A (p.Thr404Lys) c.-69+2752C>A (n.-69+2752C>A) | gnomAD v4 |
10 | g.49611951C>G | CA376722278 | CHAT,SLC18A3 | c.1211C>G (p.Thr404Arg) c.-69+2752C>G (n.-69+2752C>G) | |
10 | g.49611951C>T | CA376722282 | CHAT,SLC18A3 | c.1211C>T (p.Thr404Met) c.-69+2752C>T (n.-69+2752C>T) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
10 | g.49611952G>A | CA469791797 | CHAT,SLC18A3 | c.1212G>A (p.Thr404=) c.-69+2753G>A (n.-69+2753G>A) | gnomAD v4 |
10 | g.49611952G>C | CA469791799 | CHAT,SLC18A3 | c.1212G>C (p.Thr404=) c.-69+2753G>C (n.-69+2753G>C) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.49611952G= | CA1908795087 | CHAT,SLC18A3 | c.1212G= (p.Thr404=) c.-69+2753G= (n.-69+2753G=) | |
10 | g.49611952G>T | CA469791800 | CHAT,SLC18A3 | c.1212G>T (p.Thr404=) c.-69+2753G>T (n.-69+2753G>T) | ClinVar dbSNP gnomAD v4 |
10 | g.49611953C>A | CA376722289 | CHAT,SLC18A3 | c.1213C>A (p.Leu405Ile) c.-69+2754C>A (n.-69+2754C>A) | gnomAD v4 |
10 | g.49611953C>G | CA376722291 | CHAT,SLC18A3 | c.1213C>G (p.Leu405Val) c.-69+2754C>G (n.-69+2754C>G) | |
10 | g.49611953C>T | CA376722286 | CHAT,SLC18A3 | c.1213C>T (p.Leu405Phe) c.-69+2754C>T (n.-69+2754C>T) | |
10 | g.49611954T>A | CA376722293 | CHAT,SLC18A3 | c.1214T>A (p.Leu405His) c.-69+2755T>A (n.-69+2755T>A) | |
10 | g.49611954T>C | CA376722296 | CHAT,SLC18A3 | c.1214T>C (p.Leu405Pro) c.-69+2755T>C (n.-69+2755T>C) | |
10 | g.49611954T>G | CA376722299 | CHAT,SLC18A3 | c.1214T>G (p.Leu405Arg) c.-69+2755T>G (n.-69+2755T>G) | |
10 | g.49611955C>A | CA469791808 | CHAT,SLC18A3 | c.1215C>A (p.Leu405=) c.-69+2756C>A (n.-69+2756C>A) | gnomAD v4 |
10 | g.49611955C= | CA1908795090 | CHAT,SLC18A3 | c.1215C= (p.Leu405=) c.-69+2756C= (n.-69+2756C=) | |
10 | g.49611955C>G | CA469791836 | CHAT,SLC18A3 | c.1215C>G (p.Leu405=) c.-69+2756C>G (n.-69+2756C>G) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.49611955C>T | CA5496922 | CHAT,SLC18A3 | c.1215C>T (p.Leu405=) c.-69+2756C>T (n.-69+2756C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.49611956G>A | CA376722308 | CHAT,SLC18A3 | c.1216G>A (p.Ala406Thr) c.-69+2757G>A (n.-69+2757G>A) | COSMIC |
10 | g.49611956G>C | CA376722311 | CHAT,SLC18A3 | c.1216G>C (p.Ala406Pro) c.-69+2757G>C (n.-69+2757G>C) | |
10 | g.49611956G= | CA1908795092 | CHAT,SLC18A3 | c.1216G= (p.Ala406=) c.-69+2757G= (n.-69+2757G=) | |
10 | g.49611956G>T | CA376722314 | CHAT,SLC18A3 | c.1216G>T (p.Ala406Ser) c.-69+2757G>T (n.-69+2757G>T) | dbSNP |
10 | g.49611957C>A | CA376722318 | CHAT,SLC18A3 | c.1217C>A (p.Ala406Asp) c.-69+2758C>A (n.-69+2758C>A) | |
10 | g.49611957C= | CA1908795097 | CHAT,SLC18A3 | c.1217C= (p.Ala406=) c.-69+2758C= (n.-69+2758C=) |