Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.72124037C>A | CA501432864 | SOX9 | c.1180C>A (p.Arg394=) | dbSNP gnomAD v2 |
17 | g.72124037C>T | CA16043058 | SOX9 | c.1180C>T (p.Arg394Ter) | ClinVar dbSNP gnomAD v4 |
17 | g.72124037C>G | CA400867873 | SOX9 | c.1180C>G (p.Arg394Gly) | dbSNP |