| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.132851656G>A | CA6898041 | CHFR | c.1454C>T (p.Ala485Val) c.1367C>T (p.Ala456Val) c.890C>T (p.Ala297Val) c.1490C>T (p.Ala497Val) c.1214C>T (p.Ala405Val) c.99-2932C>T (n.99-2932C>T) n.59+1775C>T c.3C>T n.753C>T c.1487C>T (p.Ala496Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.132851656G= | CA2073101018 | CHFR | c.1454C= (p.Ala485=) c.1367C= (p.Ala456=) c.890C= (p.Ala297=) c.1490C= (p.Ala497=) c.1214C= (p.Ala405=) c.99-2932C= (n.99-2932C=) n.59+1775C= c.3C= n.753C= c.1487C= (p.Ala496=) | dbSNP |