| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.72122794C>G | CA10581490 | SOX9 | c.507C>G (p.His169Gln) | ClinVar dbSNP |
| 17 | g.72122794C>T | CA341684 | SOX9 | c.507C>T (p.His169=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.72122794C>A | CA400866449 | SOX9 | c.507C>A (p.His169Gln) | dbSNP |
| 17 | g.72122794C= | CA2273925905 | SOX9 | c.507C= (p.His169=) | dbSNP |