| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.104034179del | CA16618927 | COL17A1 | c.3676del (p.Ser1226AlafsTer4) c.3922del (p.Ser1308AlafsTer4) | ClinVar dbSNP |
| 10 | g.104034179T= | CA3174440590 | COL17A1 | c.3676A= (p.Ser1226=) c.3922A= (p.Ser1308=) | dbSNP |