| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.237360131C>A | CA351216628 | COL6A3 | c.5621G>T (p.Gly1874Val) c.6239G>T (p.Gly2080Val) c.4418G>T (p.Gly1473Val) c.5639G>T (p.Gly1880Val) c.5018G>T (p.Gly1673Val) c.5738G>T (p.Gly1913Val) c.6236G>T (p.Gly2079Val) c.3833G>T (p.Gly1278Val) | ClinVar dbSNP |
| 2 | g.237360131C>T | CA275040 | COL6A3 | c.5621G>A (p.Gly1874Asp) c.6239G>A (p.Gly2080Asp) c.4418G>A (p.Gly1473Asp) c.5639G>A (p.Gly1880Asp) c.5018G>A (p.Gly1673Asp) c.5738G>A (p.Gly1913Asp) c.6236G>A (p.Gly2079Asp) c.3833G>A (p.Gly1278Asp) | ClinVar dbSNP |
| 2 | g.237360131C= | CA1337617822 | COL6A3 | c.5621G= (p.Gly1874=) c.6239G= (p.Gly2080=) c.4418G= (p.Gly1473=) c.5639G= (p.Gly1880=) c.5018G= (p.Gly1673=) c.5738G= (p.Gly1913=) c.6236G= (p.Gly2079=) c.3833G= (p.Gly1278=) | dbSNP |