| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.189041675C>A | CA16604076 | COL5A2 | c.3544G>T (p.Gly1182Cys) c.2383G>T (p.Gly795Cys) c.3406G>T (p.Gly1136Cys) | ClinVar dbSNP |
| 2 | g.189041675C= | CA1315415071 | COL5A2 | c.3544G= (p.Gly1182=) c.2383G= (p.Gly795=) c.3406G= (p.Gly1136=) | dbSNP |