| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.188999367G>T | CA005016 | COL3A1 | c.2006G>T (p.Gly669Val) c.2105G>T (p.Gly702Val) | ClinVar dbSNP |
| 2 | g.188999367G>C | CA349840351 | COL3A1 | c.2006G>C (p.Gly669Ala) c.2105G>C (p.Gly702Ala) | ClinVar dbSNP |
| 2 | g.188999367G>A | CA005009 | COL3A1 | c.2006G>A (p.Gly669Asp) c.2105G>A (p.Gly702Asp) | ClinVar dbSNP |