| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 21 | g.46116010G>T | CA10604780 | COL6A2 | c.857G>T (p.Gly286Val) n.513G>T n.980G>T n.987G>T | ClinVar dbSNP |
| 21 | g.46116010G>A | CA295264 | COL6A2 | c.857G>A (p.Gly286Glu) n.513G>A n.980G>A n.987G>A | ClinVar dbSNP COSMIC COSMIC COSMIC |
| 21 | g.46116010G= | CA2392500534 | COL6A2 | c.857G= (p.Gly286=) n.513G= n.980G= n.987G= | dbSNP |