| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.52904822A>G | CA124165 | KRT8 | c.160T>C (p.Tyr54His) c.394T>C (p.Tyr132His) n.231T>C c.280T>C (p.Tyr94His) n.223T>C c.244T>C (p.Tyr82His) n.617T>C n.611T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.52904822A>T | CA6590601 | KRT8 | c.160T>A (p.Tyr54Asn) c.394T>A (p.Tyr132Asn) n.231T>A c.280T>A (p.Tyr94Asn) n.223T>A c.244T>A (p.Tyr82Asn) n.617T>A n.611T>A | dbSNP ExAC gnomAD v2 gnomAD v4 |