| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.52306237G>C | CA118928 | KRT81,KRT86 | c.1204G>C (p.Glu402Gln) c.1435G>C (p.Glu479Gln) c.-212+1974C>G (n.-212+1974C>G) | ClinVar dbSNP gnomAD v4 |
| 12 | g.52306237G>A | CA118926 | KRT81,KRT86 | c.1204G>A (p.Glu402Lys) c.1435G>A (p.Glu479Lys) c.-212+1974C>T (n.-212+1974C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |