| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 21 | g.46126535C>T | CA127109 | COL6A2 | c.2455C>T (p.Gln819Ter) n.2532C>T n.2539C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 21 | g.46126535C>G | CA410543593 | COL6A2 | c.2455C>G (p.Gln819Glu) n.2532C>G n.2539C>G | dbSNP |
| 21 | g.46126535C= | CA2392508114 | COL6A2 | c.2455C= (p.Gln819=) n.2532C= n.2539C= | dbSNP |