| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.52792304G>C | CA6588012 | KRT3 | c.1123C>G (p.Arg375Gly) c.763C>G (p.Arg255Gly) c.1387C>G (p.Arg463Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.52792304G>A | CA6588013 | KRT3 | c.1123C>T (p.Arg375Cys) c.763C>T (p.Arg255Cys) c.1387C>T (p.Arg463Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.52792304G>T | CA384972406 | KRT3 | c.1123C>A (p.Arg375Ser) c.763C>A (p.Arg255Ser) c.1387C>A (p.Arg463Ser) | dbSNP |