| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.10397883T>G | CA134041999 | TFAP2A | c.*534A>C (n.*534A>C) c.207-4322A>C c.*1345A>C (n.*1345A>C) | dbSNP |
| 6 | g.10397883T>A | CA565362699 | TFAP2A | c.*534A>T (n.*534A>T) c.207-4322A>T c.*1345A>T (n.*1345A>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.10397883T= | CA1609973378 | TFAP2A | c.*534A= (n.*534A=) c.207-4322A= c.*1345A= (n.*1345A=) | dbSNP |