| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.104039613G>A | CA204960 | COL17A1 | c.2762-492C>T (n.2762-492C>T) c.2816C>T (p.Thr939Ile) | ClinVar dbSNP gnomAD v4 |
| 10 | g.104039613G= | CA1933390514 | COL17A1 | c.2762-492C= (n.2762-492C=) c.2816C= (p.Thr939=) | dbSNP |
| 10 | g.104039613G>T | CA378067919 | COL17A1 | c.2762-492C>A (n.2762-492C>A) c.2816C>A (p.Thr939Asn) | dbSNP gnomAD v4 |