| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.50838007G>A | CA340720 | TFAP2B | c.854G>A (p.Arg285Gln) c.800G>A (p.Arg267Gln) c.881G>A (p.Arg294Gln) c.1019G>A (p.Arg340Gln) c.983G>A (p.Arg328Gln) c.395G>A (p.Arg132Gln) | ClinVar dbSNP gnomAD v4 COSMIC |
| 6 | g.50838007G= | CA1628089037 | TFAP2B | c.854G= (p.Arg285=) c.800G= (p.Arg267=) c.881G= (p.Arg294=) c.1019G= (p.Arg340=) c.983G= (p.Arg328=) c.395G= (p.Arg132=) | dbSNP |