| 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 |
| 12 | g.52904822A= | CA2036710345 | KRT8 | c.160T= (p.Tyr54=) c.394T= (p.Tyr132=) n.231T= c.280T= (p.Tyr94=) n.223T= c.244T= (p.Tyr82=) n.617T= n.611T= | dbSNP |
| 12 | g.52904822A>C | CA384997244 | KRT8 | c.160T>G (p.Tyr54Asp) c.394T>G (p.Tyr132Asp) n.231T>G c.280T>G (p.Tyr94Asp) n.223T>G c.244T>G (p.Tyr82Asp) n.617T>G n.611T>G | dbSNP gnomAD v4 |