| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.94411099G>A | CA260337 | COL1A2 | c.1295G>A (p.Arg432Gln) c.1289G>A (p.Arg430Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.94411099G>T | CA368221556 | COL1A2 | c.1295G>T (p.Arg432Leu) c.1289G>T (p.Arg430Leu) | dbSNP gnomAD v4 |
| 7 | g.94411099G= | CA1726754984 | COL1A2 | c.1295G= (p.Arg432=) c.1289G= (p.Arg430=) | dbSNP |