| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.189006352G>A | CA006097 | COL3A1 | c.3002G>A (p.Arg1001His) c.3101G>A (p.Arg1034His) c.2528-1702G>A (n.2528-1702G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 2 | g.189006352G>T | CA349845021 | COL3A1 | c.3002G>T (p.Arg1001Leu) c.3101G>T (p.Arg1034Leu) c.2528-1702G>T (n.2528-1702G>T) | ClinVar dbSNP |