| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.237371861C>T | CA203744 | COL6A3 | c.3538G>A (p.Glu1180Lys) c.4156G>A (p.Glu1386Lys) c.2335G>A (p.Glu779Lys) c.2935G>A (p.Glu979Lys) c.3556G>A (p.Glu1186Lys) c.1750G>A (p.Glu584Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.237371861C= | CA1337623187 | COL6A3 | c.3538G= (p.Glu1180=) c.4156G= (p.Glu1386=) c.2335G= (p.Glu779=) c.2935G= (p.Glu979=) c.3556G= (p.Glu1186=) c.1750G= (p.Glu584=) | dbSNP |