| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.104034711G>A | CA127322 | COL17A1 | c.3430C>T (p.Arg1144Ter) c.3676C>T (p.Arg1226Ter) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.104034711G= | CA1933418767 | COL17A1 | c.3430C= (p.Arg1144=) c.3676C= (p.Arg1226=) | dbSNP |
| 10 | g.104034711G>T | CA471341977 | COL17A1 | c.3430C>A (p.Arg1144=) c.3676C>A (p.Arg1226=) | dbSNP gnomAD v4 |