| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.10404509T>G | CA3631260 | TFAP2A,TFAP2A-AS2 | c.745A>C (p.Arg249=) c.769A>C (p.Arg257=) c.*260A>C (n.*260A>C) c.334A>C (p.Arg112=) c.751A>C (p.Arg251=) c.86A>C c.763A>C (p.Arg255=) c.477A>C n.763A>C n.734A>C c.898A>C (p.Arg300=) c.613A>C (p.Arg205=) n.8T>G c.1009A>C (p.Arg337=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.10404509T>A | CA362701143 | TFAP2A,TFAP2A-AS2 | c.745A>T (p.Arg249Trp) c.769A>T (p.Arg257Trp) c.*260A>T (n.*260A>T) c.334A>T (p.Arg112Trp) c.751A>T (p.Arg251Trp) c.86A>T c.763A>T (p.Arg255Trp) c.477A>T n.763A>T n.734A>T c.898A>T (p.Arg300Trp) c.613A>T (p.Arg205Trp) n.8T>A c.1009A>T (p.Arg337Trp) | ClinVar dbSNP |
| 6 | g.10404509T>C | CA004729 | TFAP2A,TFAP2A-AS2 | c.745A>G (p.Arg249Gly) c.769A>G (p.Arg257Gly) c.*260A>G (n.*260A>G) c.334A>G (p.Arg112Gly) c.751A>G (p.Arg251Gly) c.86A>G c.763A>G (p.Arg255Gly) c.477A>G n.763A>G n.734A>G c.898A>G (p.Arg300Gly) c.613A>G (p.Arg205Gly) n.8T>C c.1009A>G (p.Arg337Gly) | ClinVar dbSNP gnomAD v4 |