| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.70450862G>A | CA1698644 | TGFA | c.480C>T (p.Val160=) c.477C>T (p.Val159=) c.379-1241C>T c.498C>T (p.Val166=) c.*18+867C>T (n.*18+867C>T) c.495C>T (p.Val165=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.70450862G= | CA1259574399 | TGFA | c.480C= (p.Val160=) c.477C= (p.Val159=) c.379-1241C= c.498C= (p.Val166=) c.*18+867C= (n.*18+867C=) c.495C= (p.Val165=) | dbSNP |