| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 21 | g.45998399G>A | CA410530203 | COL6A1 | n.352G>A c.1577G>A (p.Gly526Glu) | dbSNP gnomAD v2 gnomAD v4 |
| 21 | g.45998399G>T | CA257732 | COL6A1 | n.352G>T c.1577G>T (p.Gly526Val) | ClinVar dbSNP |
| 21 | g.45998399G= | CA2392438550 | COL6A1 | n.352G= c.1577G= (p.Gly526=) | dbSNP |
| 21 | g.45998399G>C | CA410530206 | COL6A1 | n.352G>C c.1577G>C (p.Gly526Ala) | dbSNP gnomAD v4 |