| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.237350155C>T | CA67845825 | COL6A3 | c.6253G>A (p.Gly2085Arg) c.6871G>A (p.Gly2291Arg) c.5050G>A (p.Gly1684Arg) n.1125G>A c.6271G>A (p.Gly2091Arg) c.5650G>A (p.Gly1884Arg) c.6370G>A (p.Gly2124Arg) c.6868G>A (p.Gly2290Arg) c.4465G>A (p.Gly1489Arg) | dbSNP gnomAD v4 |
| 2 | g.237350155C>A | CA295317 | COL6A3 | c.6253G>T (p.Gly2085Trp) c.6871G>T (p.Gly2291Trp) c.5050G>T (p.Gly1684Trp) n.1125G>T c.6271G>T (p.Gly2091Trp) c.5650G>T (p.Gly1884Trp) c.6370G>T (p.Gly2124Trp) c.6868G>T (p.Gly2290Trp) c.4465G>T (p.Gly1489Trp) | ClinVar dbSNP gnomAD v4 |