| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 21 | g.46003475G>A | CA147380 | COL6A1 | n.948G>A c.675G>A c.2549G>A (p.Arg850His) n.337G>A n.783G>A c.2543G>A (p.Arg848His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.46003475G>T | CA410539517 | COL6A1 | n.948G>T c.675G>T c.2549G>T (p.Arg850Leu) n.337G>T n.783G>T c.2543G>T (p.Arg848Leu) | dbSNP |
| 21 | g.46003475G= | CA2392441696 | COL6A1 | n.948G= c.675G= c.2549G= (p.Arg850=) n.337G= n.783G= c.2543G= (p.Arg848=) | dbSNP |