| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.52519160C>T | CA216763 | KRT5 | c.556G>A (p.Val186Met) c.226G>A (p.Val76Met) n.84G>A n.654G>A | ClinVar dbSNP |
| 12 | g.52519160C>A | CA216764 | KRT5 | c.556G>T (p.Val186Leu) c.226G>T (p.Val76Leu) n.84G>T n.654G>T | ClinVar dbSNP |
| 12 | g.52519160C= | CA2036540138 | KRT5 | c.556G= (p.Val186=) c.226G= (p.Val76=) n.84G= n.654G= | dbSNP |