| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.237367151C>T | CA239569 | COL6A3 | c.4418G>A (p.Gly1473Glu) c.366G>A c.5036G>A (p.Gly1679Glu) c.3215G>A (p.Gly1072Glu) c.4436G>A (p.Gly1479Glu) c.3815G>A (p.Gly1272Glu) c.4535G>A (p.Gly1512Glu) c.5033G>A (p.Gly1678Glu) c.2630G>A (p.Gly877Glu) | ClinVar dbSNP |
| 2 | g.237367151C>G | CA351189400 | COL6A3 | c.4418G>C (p.Gly1473Ala) c.366G>C c.5036G>C (p.Gly1679Ala) c.3215G>C (p.Gly1072Ala) c.4436G>C (p.Gly1479Ala) c.3815G>C (p.Gly1272Ala) c.4535G>C (p.Gly1512Ala) c.5033G>C (p.Gly1678Ala) c.2630G>C (p.Gly877Ala) | dbSNP |
| 2 | g.237367151C= | CA1337621065 | COL6A3 | c.4418G= (p.Gly1473=) c.366G= c.5036G= (p.Gly1679=) c.3215G= (p.Gly1072=) c.4436G= (p.Gly1479=) c.3815G= (p.Gly1272=) c.4535G= (p.Gly1512=) c.5033G= (p.Gly1678=) c.2630G= (p.Gly877=) | dbSNP |