| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.237361164C>T | CA16617501 | COL6A3 | c.5549G>A (p.Gly1850Glu) c.6167G>A (p.Gly2056Glu) c.4346G>A (p.Gly1449Glu) c.5567G>A (p.Gly1856Glu) c.4946G>A (p.Gly1649Glu) c.5666G>A (p.Gly1889Glu) c.6164G>A (p.Gly2055Glu) c.3761G>A (p.Gly1254Glu) | ClinVar dbSNP |
| 2 | g.237361164C= | CA1337618689 | COL6A3 | c.5549G= (p.Gly1850=) c.6167G= (p.Gly2056=) c.4346G= (p.Gly1449=) c.5567G= (p.Gly1856=) c.4946G= (p.Gly1649=) c.5666G= (p.Gly1889=) c.6164G= (p.Gly2055=) c.3761G= (p.Gly1254=) | dbSNP |