| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.94428367G>A | CA4347796 | COL1A2 | c.3601G>A (p.Glu1201Lys) n.649G>A n.4382G>A c.3595G>A (p.Glu1199Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.94428367G>T | CA127130 | COL1A2 | c.3601G>T (p.Glu1201Ter) n.649G>T n.4382G>T c.3595G>T (p.Glu1199Ter) | ClinVar dbSNP |