| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.189007546G>A | CA006290 | COL3A1 | c.3203G>A (p.Gly1068Glu) c.3302G>A (p.Gly1101Glu) c.2528-508G>A (n.2528-508G>A) | ClinVar dbSNP |
| 2 | g.189007546G= | CA1315404816 | COL3A1 | c.3203G= (p.Gly1068=) c.3302G= (p.Gly1101=) c.2528-508G= (n.2528-508G=) | dbSNP |