| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.52519815A>T | CA384929032 | KRT5 | c.482T>A (p.Ile161Asn) c.152T>A (p.Ile51Asn) c.377T>A (p.Ile126Asn) n.580T>A | ClinVar dbSNP gnomAD v4 |
| 12 | g.52519815A>C | CA216724 | KRT5 | c.482T>G (p.Ile161Ser) c.152T>G (p.Ile51Ser) c.377T>G (p.Ile126Ser) n.580T>G | ClinVar dbSNP gnomAD v4 |
| 12 | g.52519815A>G | CA384929030 | KRT5 | c.482T>C (p.Ile161Thr) c.152T>C (p.Ile51Thr) c.377T>C (p.Ile126Thr) n.580T>C | dbSNP gnomAD v4 |
| 12 | g.52519815A= | CA2036540462 | KRT5 | c.482T= (p.Ile161=) c.152T= (p.Ile51=) c.377T= (p.Ile126=) n.580T= | dbSNP |