| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.104034051del | CA10603215 | COL17A1 | c.3804del (p.Ala1269GlnfsTer28) c.80del c.4050del (p.Ala1351GlnfsTer28) | ClinVar dbSNP |
| 10 | g.104034051T= | CA3174154983 | COL17A1 | c.3804A= (p.Ala1268=) c.80A= c.4050A= (p.Ala1350=) | dbSNP |