| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.189004302G>T | CA005768 | COL3A1 | c.2770G>T (p.Gly924Cys) c.2869G>T (p.Gly957Cys) c.2527+1266G>T (n.2527+1266G>T) | ClinVar dbSNP gnomAD v4 |
| 2 | g.189004302G>A | CA62557535 | COL3A1 | c.2770G>A (p.Gly924Ser) c.2869G>A (p.Gly957Ser) c.2527+1266G>A (n.2527+1266G>A) | ClinVar dbSNP |