| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 21 | g.46132287C>G | CA410549750 | COL6A2 | c.2795C>G (p.Pro932Arg) n.2872C>G n.2879C>G | dbSNP gnomAD v4 |
| 21 | g.46132287C>T | CA242938 | COL6A2 | c.2795C>T (p.Pro932Leu) n.2872C>T n.2879C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.46132287C= | CA2392512729 | COL6A2 | c.2795C= (p.Pro932=) n.2872C= n.2879C= | dbSNP |
| 21 | g.46132287C>A | CA410549746 | COL6A2 | c.2795C>A (p.Pro932Gln) n.2872C>A n.2879C>A | dbSNP gnomAD v4 |