| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.237363374C>T | CA351219198 | COL6A3 | c.5324G>A (p.Gly1775Asp) c.5942G>A (p.Gly1981Asp) c.4121G>A (p.Gly1374Asp) c.5342G>A (p.Gly1781Asp) c.4721G>A (p.Gly1574Asp) c.5441G>A (p.Gly1814Asp) c.5939G>A (p.Gly1980Asp) c.3536G>A (p.Gly1179Asp) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.237363374C>A | CA295332 | COL6A3 | c.5324G>T (p.Gly1775Val) c.5942G>T (p.Gly1981Val) c.4121G>T (p.Gly1374Val) c.5342G>T (p.Gly1781Val) c.4721G>T (p.Gly1574Val) c.5441G>T (p.Gly1814Val) c.5939G>T (p.Gly1980Val) c.3536G>T (p.Gly1179Val) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.237363374C= | CA1337619325 | COL6A3 | c.5324G= (p.Gly1775=) c.5942G= (p.Gly1981=) c.4121G= (p.Gly1374=) c.5342G= (p.Gly1781=) c.4721G= (p.Gly1574=) c.5441G= (p.Gly1814=) c.5939G= (p.Gly1980=) c.3536G= (p.Gly1179=) | dbSNP |