| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.52519884C>T | CA216707 | KRT5 | c.413G>A (p.Gly138Glu) c.83G>A (p.Gly28Glu) c.308G>A (p.Gly103Glu) n.511G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.52519884C>G | CA384929349 | KRT5 | c.413G>C (p.Gly138Ala) c.83G>C (p.Gly28Ala) c.308G>C (p.Gly103Ala) n.511G>C | dbSNP |
| 12 | g.52519884C>A | CA384929346 | KRT5 | c.413G>T (p.Gly138Val) c.83G>T (p.Gly28Val) c.308G>T (p.Gly103Val) n.511G>T | dbSNP gnomAD v4 |
| 12 | g.52519884C= | CA2036540500 | KRT5 | c.413G= (p.Gly138=) c.83G= (p.Gly28=) c.308G= (p.Gly103=) n.511G= | dbSNP |