| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.71421318A>G | CA16621497 | TAF1 | c.3680A>G (p.His1227Arg) c.355A>G n.271A>G c.4394A>G (p.His1465Arg) c.988A>G c.4331A>G (p.His1444Arg) c.4454A>G (p.His1485Arg) c.4391A>G (p.His1464Arg) n.4530A>G c.4451A>G (p.His1484Arg) c.4073A>G (p.His1358Arg) n.4545A>G n.4412A>G | ClinVar dbSNP |
| X | g.71421318A= | CA2436458357 | TAF1 | c.3680A= (p.His1227=) c.355A= n.271A= c.4394A= (p.His1465=) c.988A= c.4331A= (p.His1444=) c.4454A= (p.His1485=) c.4391A= (p.His1464=) n.4530A= c.4451A= (p.His1484=) c.4073A= (p.His1358=) n.4545A= n.4412A= | dbSNP |