| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 21 | g.46125854G>A | CA147453 | COL6A2 | c.2039G>A (p.Arg680His) c.710G>A (p.Arg237His) n.2116G>A n.2123G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.46125854G>T | CA321972632 | COL6A2 | c.2039G>T (p.Arg680Leu) c.710G>T (p.Arg237Leu) n.2116G>T n.2123G>T | dbSNP gnomAD v3 gnomAD v4 |
| 21 | g.46125854G= | CA2392507614 | COL6A2 | c.2039G= (p.Arg680=) c.710G= (p.Arg237=) n.2116G= n.2123G= | dbSNP |