| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.104072062G>A | CA258055 | COL17A1 | c.433C>T (p.Arg145Ter) n.548C>T c.385C>T (p.Arg129Ter) n.483C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 10 | g.104072062G>T | CA471339757 | COL17A1 | c.433C>A (p.Arg145=) n.548C>A c.385C>A (p.Arg129=) n.483C>A | dbSNP gnomAD v4 |
| 10 | g.104072062G= | CA1933377763 | COL17A1 | c.433C= (p.Arg145=) n.548C= c.385C= (p.Arg129=) n.483C= | dbSNP |