Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.72122804A>T | CA400866472 | SOX9 | c.517A>T (p.Lys173Ter) | ClinVar dbSNP |
17 | g.72122804A>G | CA115585 | SOX9 | c.517A>G (p.Lys173Glu) | ClinVar dbSNP |
17 | g.72122804A= | CA2273925911 | SOX9 | c.517A= (p.Lys173=) | dbSNP |