Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.52519825C>T | CA6582840 | KRT5 | c.472G>A (p.Asp158Asn) c.142G>A (p.Asp48Asn) c.367G>A (p.Asp123Asn) n.570G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
12 | g.52519825C>A | CA16606334 | KRT5 | c.472G>T (p.Asp158Tyr) c.142G>T (p.Asp48Tyr) c.367G>T (p.Asp123Tyr) n.570G>T | ClinVar dbSNP |