| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.71392653G>C | CA279942 | TAF1 | c.2152G>C (p.Asp718His) c.2866G>C (p.Asp956His) c.2447G>C c.2803G>C (p.Asp935His) c.2926G>C (p.Asp976His) c.2863G>C (p.Asp955His) n.3002G>C c.2545G>C (p.Asp849His) n.2936G>C n.2884G>C | ClinVar dbSNP |
| X | g.71392653G= | CA2436448099 | TAF1 | c.2152G= (p.Asp718=) c.2866G= (p.Asp956=) c.2447G= c.2803G= (p.Asp935=) c.2926G= (p.Asp976=) c.2863G= (p.Asp955=) n.3002G= c.2545G= (p.Asp849=) n.2936G= n.2884G= | dbSNP |