| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.52519756A>G | CA216749 | KRT5 | c.541T>C (p.Ser181Pro) c.211T>C (p.Ser71Pro) c.436T>C (p.Ser146Pro) n.639T>C | ClinVar dbSNP |
| 12 | g.52519756A>T | CA384928767 | KRT5 | c.541T>A (p.Ser181Thr) c.211T>A (p.Ser71Thr) c.436T>A (p.Ser146Thr) n.639T>A | dbSNP gnomAD v4 |
| 12 | g.52519756A= | CA2036540428 | KRT5 | c.541T= (p.Ser181=) c.211T= (p.Ser71=) c.436T= (p.Ser146=) n.639T= | dbSNP |