| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.50837977C>A | CA340716 | TFAP2B | c.824C>A (p.Ala275Asp) c.770C>A (p.Ala257Asp) c.851C>A (p.Ala284Asp) c.989C>A (p.Ala330Asp) c.953C>A (p.Ala318Asp) c.365C>A (p.Ala122Asp) | ClinVar dbSNP |
| 6 | g.50837977C= | CA1628088987 | TFAP2B | c.824C= (p.Ala275=) c.770C= (p.Ala257=) c.851C= (p.Ala284=) c.989C= (p.Ala330=) c.953C= (p.Ala318=) c.365C= (p.Ala122=) | dbSNP |