| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.104057158C>G | CA378073259 | COL17A1 | c.1282G>C (p.Gly428Arg) c.1234G>C (p.Gly412Arg) | dbSNP |
| 10 | g.104057158C>T | CA5679079 | COL17A1 | c.1282G>A (p.Gly428Ser) c.1234G>A (p.Gly412Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.104057158C= | CA1933408796 | COL17A1 | c.1282G= (p.Gly428=) c.1234G= (p.Gly412=) | dbSNP |