Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
10 | g.49648606G>A | CA203779 | CHAT | c.1381G>A (p.Val461Met) c.*218G>A (n.*218G>A) c.244G>A (p.Val82Met) c.1027G>A (p.Val343Met) c.1135G>A (p.Val379Met) c.*1112G>A (n.*1112G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.49648606G>C | CA376742878 | CHAT | c.1381G>C (p.Val461Leu) c.*218G>C (n.*218G>C) c.244G>C (p.Val82Leu) c.1027G>C (p.Val343Leu) c.1135G>C (p.Val379Leu) c.*1112G>C (n.*1112G>C) | dbSNP |
10 | g.49648606G>T | CA376742881 | CHAT | c.1381G>T (p.Val461Leu) c.*218G>T (n.*218G>T) c.244G>T (p.Val82Leu) c.1027G>T (p.Val343Leu) c.1135G>T (p.Val379Leu) c.*1112G>T (n.*1112G>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |