| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.50823543C>G | CA340721 | TFAP2B | c.218C>G (p.Pro73Arg) c.212C>G (p.Pro71Arg) n.513C>G c.164C>G (p.Pro55Arg) c.245C>G (p.Pro82Arg) c.383C>G (p.Pro128Arg) c.347C>G (p.Pro116Arg) c.81+4571C>G (n.81+4571C>G) | ClinVar dbSNP gnomAD v4 |
| 6 | g.50823543C= | CA1628068361 | TFAP2B | c.218C= (p.Pro73=) c.212C= (p.Pro71=) n.513C= c.164C= (p.Pro55=) c.245C= (p.Pro82=) c.383C= (p.Pro128=) c.347C= (p.Pro116=) c.81+4571C= (n.81+4571C=) | dbSNP |