| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.52519789C>T | CA216731 | KRT5 | c.508G>A (p.Glu170Lys) c.178G>A (p.Glu60Lys) c.403G>A (p.Glu135Lys) n.606G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.52519789C>A | CA384928918 | KRT5 | c.508G>T (p.Glu170Ter) c.178G>T (p.Glu60Ter) c.403G>T (p.Glu135Ter) n.606G>T | ClinVar dbSNP |
| 12 | g.52519789C= | CA2036540448 | KRT5 | c.508G= (p.Glu170=) c.178G= (p.Glu60=) c.403G= (p.Glu135=) n.606G= | dbSNP |