| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.41624226A>G | CA216615 | KRT17 | c.284T>C (p.Leu95Pro) c.-312-20T>C (n.-312-20T>C) n.350T>C n.71T>C c.71+8T>C (n.71+8T>C) c.239T>C (p.Leu80Pro) | ClinVar dbSNP |
| 17 | g.41624226A>T | CA216614 | KRT17 | c.284T>A (p.Leu95Gln) c.-312-20T>A (n.-312-20T>A) n.350T>A n.71T>A c.71+8T>A (n.71+8T>A) c.239T>A (p.Leu80Gln) | ClinVar dbSNP |