| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.71398627C>T | CA279920 | TAF1 | c.2962C>T (p.Arg988Trp) c.591C>T c.3676C>T (p.Arg1226Trp) c.270C>T c.3613C>T (p.Arg1205Trp) c.3736C>T (p.Arg1246Trp) c.3673C>T (p.Arg1225Trp) c.405C>T n.3812C>T c.3733C>T (p.Arg1245Trp) c.3355C>T (p.Arg1119Trp) n.3746C>T n.3694C>T | ClinVar dbSNP gnomAD v4 |
| X | g.71398627C= | CA2436450092 | TAF1 | c.2962C= (p.Arg988=) c.591C= c.3676C= (p.Arg1226=) c.270C= c.3613C= (p.Arg1205=) c.3736C= (p.Arg1246=) c.3673C= (p.Arg1225=) c.405C= n.3812C= c.3733C= (p.Arg1245=) c.3355C= (p.Arg1119=) n.3746C= n.3694C= | dbSNP |