| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 21 | g.45987175G>A | CA16621794 | COL6A1 | c.738G>A (p.Val246=) n.67G>A | ClinVar ClinVar dbSNP gnomAD v4 |
| 21 | g.45987175G= | CA2392431854 | COL6A1 | c.738G= (p.Val246=) n.67G= | dbSNP |
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 21 | g.45987175G>A | CA16621794 | COL6A1 | c.738G>A (p.Val246=) n.67G>A | ClinVar ClinVar dbSNP gnomAD v4 |
| 21 | g.45987175G= | CA2392431854 | COL6A1 | c.738G= (p.Val246=) n.67G= | dbSNP |