| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.50836165C>A | CA340719 | TFAP2B | c.706C>A (p.Arg236Ser) c.652C>A (p.Arg218Ser) c.733C>A (p.Arg245Ser) c.871C>A (p.Arg291Ser) c.835C>A (p.Arg279Ser) c.247C>A (p.Arg83Ser) | ClinVar dbSNP |
| 6 | g.50836165C>T | CA340718 | TFAP2B | c.706C>T (p.Arg236Cys) c.652C>T (p.Arg218Cys) c.733C>T (p.Arg245Cys) c.871C>T (p.Arg291Cys) c.835C>T (p.Arg279Cys) c.247C>T (p.Arg83Cys) | ClinVar dbSNP COSMIC |
| 6 | g.50836165C= | CA1628086572 | TFAP2B | c.706C= (p.Arg236=) c.652C= (p.Arg218=) c.733C= (p.Arg245=) c.871C= (p.Arg291=) c.835C= (p.Arg279=) c.247C= (p.Arg83=) | dbSNP |