| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.189004072G>A | CA349844050 | COL3A1 | c.2653G>A (p.Gly885Arg) c.2752G>A (p.Gly918Arg) c.2527+1036G>A (n.2527+1036G>A) | ClinVar dbSNP |
| 2 | g.189004072G= | CA1315403051 | COL3A1 | c.2653G= (p.Gly885=) c.2752G= (p.Gly918=) c.2527+1036G= (n.2527+1036G=) | dbSNP |