| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.189008961G>A | CA006671 | COL3A1 | c.3464G>A (p.Gly1155Glu) c.3563G>A (p.Gly1188Glu) c.2654G>A (p.Gly885Glu) n.660G>A | ClinVar dbSNP |
| 2 | g.189008961G= | CA1315405493 | COL3A1 | c.3464G= (p.Gly1155=) c.3563G= (p.Gly1188=) c.2654G= (p.Gly885=) n.660G= | dbSNP |