Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.72124177C>A | CA341683 | SOX9 | c.1320C>A (p.Tyr440Ter) | ClinVar dbSNP |
17 | g.72124177C>G | CA115583 | SOX9 | c.1320C>G (p.Tyr440Ter) | ClinVar dbSNP |
17 | g.72124177C>T | CA8739141 | SOX9 | c.1320C>T (p.Tyr440=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.72124177C= | CA2273926683 | SOX9 | c.1320C= (p.Tyr440=) | dbSNP |