| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.41624236T>G | CA124153 | KRT17 | c.274A>C (p.Asn92His) c.-312-30A>C (n.-312-30A>C) n.340A>C n.61A>C c.69A>C (p.Ser23=) c.229A>C (p.Asn77His) | ClinVar dbSNP |
| 17 | g.41624236T>C | CA216607 | KRT17 | c.274A>G (p.Asn92Asp) c.-312-30A>G (n.-312-30A>G) n.340A>G n.61A>G c.69A>G (p.Ser23=) c.229A>G (p.Asn77Asp) | ClinVar dbSNP gnomAD v4 |