| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.50838051C>T | CA340717 | TFAP2B | c.898C>T (p.Arg300Cys) c.844C>T (p.Arg282Cys) c.925C>T (p.Arg309Cys) c.1063C>T (p.Arg355Cys) c.1027C>T (p.Arg343Cys) c.439C>T (p.Arg147Cys) | ClinVar dbSNP |
| 6 | g.50838051C= | CA1628089087 | TFAP2B | c.898C= (p.Arg300=) c.844C= (p.Arg282=) c.925C= (p.Arg309=) c.1063C= (p.Arg355=) c.1027C= (p.Arg343=) c.439C= (p.Arg147=) | dbSNP |