| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.104043852C>G | CA5678485 | COL17A1 | c.2407G>C (p.Gly803Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.104043852C>A | CA5678484 | COL17A1 | c.2407G>T (p.Gly803Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.104043852C= | CA1933392937 | COL17A1 | c.2407G= (p.Gly803=) | dbSNP |