| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.78631163G>A | CA7685010 | CHRNB4 | c.272C>T (p.Thr91Ile) c.*180C>T (n.*180C>T) n.626C>T c.455C>T (p.Thr152Ile) c.263C>T (p.Thr88Ile) c.182C>T (p.Thr61Ile) c.107C>T (p.Thr36Ile) c.50C>T (p.Thr17Ile) c.-423C>T (n.-423C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.78631163G= | CA2189576467 | CHRNB4 | c.272C= (p.Thr91=) c.*180C= (n.*180C=) n.626C= c.455C= (p.Thr152=) c.263C= (p.Thr88=) c.182C= (p.Thr61=) c.107C= (p.Thr36=) c.50C= (p.Thr17=) c.-423C= (n.-423C=) | dbSNP |