| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.33179077C>A | CA3751295 | COL11A2 | c.234G>T c.1607G>T (p.Arg536Leu) c.1286G>T (p.Arg429Leu) c.1349G>T (p.Arg450Leu) c.761G>T (p.Arg254Leu) c.893G>T (p.Arg298Leu) c.713G>T (p.Arg238Leu) c.650G>T (p.Arg217Leu) c.494G>T (p.Arg165Leu) c.425G>T (p.Arg142Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.33179077C>T | CA236250 | COL11A2 | c.234G>A c.1607G>A (p.Arg536Gln) c.1286G>A (p.Arg429Gln) c.1349G>A (p.Arg450Gln) c.761G>A (p.Arg254Gln) c.893G>A (p.Arg298Gln) c.713G>A (p.Arg238Gln) c.650G>A (p.Arg217Gln) c.494G>A (p.Arg165Gln) c.425G>A (p.Arg142Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |