Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.72122766G>T | CA400866386 | SOX9 | c.479G>T (p.Arg160Leu) | dbSNP |
17 | g.72122766G>A | CA400866385 | SOX9 | c.479G>A (p.Arg160Gln) | dbSNP |
17 | g.72122766G>C | CA16043055 | SOX9 | c.479G>C (p.Arg160Pro) | ClinVar dbSNP |