| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.52519774G>A | CA216739 | KRT5 | c.523C>T (p.Leu175Phe) c.193C>T (p.Leu65Phe) c.418C>T (p.Leu140Phe) n.621C>T | ClinVar dbSNP |
| 12 | g.52519774G= | CA2036540440 | KRT5 | c.523C= (p.Leu175=) c.193C= (p.Leu65=) c.418C= (p.Leu140=) n.621C= | dbSNP |