| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.237359378C>A | CA275050 | COL6A3 | c.5675G>T (p.Gly1892Val) c.6293G>T (p.Gly2098Val) c.4472G>T (p.Gly1491Val) c.5693G>T (p.Gly1898Val) c.5072G>T (p.Gly1691Val) c.5792G>T (p.Gly1931Val) c.6290G>T (p.Gly2097Val) c.3887G>T (p.Gly1296Val) | ClinVar dbSNP |
| 2 | g.237359378C= | CA1337617499 | COL6A3 | c.5675G= (p.Gly1892=) c.6293G= (p.Gly2098=) c.4472G= (p.Gly1491=) c.5693G= (p.Gly1898=) c.5072G= (p.Gly1691=) c.5792G= (p.Gly1931=) c.6290G= (p.Gly2097=) c.3887G= (p.Gly1296=) | dbSNP |
| 2 | g.237359378C>T | CA351216297 | COL6A3 | c.5675G>A (p.Gly1892Glu) c.6293G>A (p.Gly2098Glu) c.4472G>A (p.Gly1491Glu) c.5693G>A (p.Gly1898Glu) c.5072G>A (p.Gly1691Glu) c.5792G>A (p.Gly1931Glu) c.6290G>A (p.Gly2097Glu) c.3887G>A (p.Gly1296Glu) | ClinVar dbSNP gnomAD v4 |