| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.41503661G>A | CA8560743 | KRT13 | c.560C>T (p.Ala187Val) c.*157C>T (n.*157C>T) n.396C>T n.577C>T c.400-318C>T (n.400-318C>T) c.239C>T (p.Ala80Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.41503661G>C | CA399485530 | KRT13 | c.560C>G (p.Ala187Gly) c.*157C>G (n.*157C>G) n.396C>G n.577C>G c.400-318C>G (n.400-318C>G) c.239C>G (p.Ala80Gly) | dbSNP |