| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.189043179G>C | CA349860770 | COL5A2 | c.3443C>G (p.Thr1148Ser) c.2282C>G (p.Thr761Ser) c.3305C>G (p.Thr1102Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.189043179G>A | CA324898 | COL5A2 | c.3443C>T (p.Thr1148Ile) c.2282C>T (p.Thr761Ile) c.3305C>T (p.Thr1102Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |