| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.189008135G>A | CA006567 | COL3A1 | c.3419G>A (p.Gly1140Glu) c.3518G>A (p.Gly1173Glu) c.2609G>A (p.Gly870Glu) | ClinVar dbSNP |
| 2 | g.189008135G>T | CA006574 | COL3A1 | c.3419G>T (p.Gly1140Val) c.3518G>T (p.Gly1173Val) c.2609G>T (p.Gly870Val) | ClinVar dbSNP gnomAD v4 |
| 2 | g.189008135G= | CA1315405123 | COL3A1 | c.3419G= (p.Gly1140=) c.3518G= (p.Gly1173=) c.2609G= (p.Gly870=) | dbSNP |