| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.188993416G>T | CA349850952 | COL3A1 | c.1050+476G>T (n.1050+476G>T) c.1106G>T (p.Gly369Val) c.148+476G>T | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
| 2 | g.188993416G>A | CA16603962 | COL3A1 | c.1050+476G>A (n.1050+476G>A) c.1106G>A (p.Gly369Glu) c.148+476G>A | ClinVar dbSNP gnomAD v4 |