| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.11958627C>T | CA281006 | PLOD1 | c.955C>T (p.Arg319Ter) c.1096C>T (p.Arg366Ter) c.1036C>T (p.Arg346Ter) c.289C>T (p.Arg97Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.11958627C>A | CA416105352 | PLOD1 | c.955C>A (p.Arg319=) c.1096C>A (p.Arg366=) c.1036C>A (p.Arg346=) c.289C>A (p.Arg97=) | dbSNP |