| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.127614533G>T | CA4468105 | PAX4 | c.385C>A (p.Arg129=) c.361C>A (p.Arg121=) c.355C>A (p.Arg119=) n.355C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.127614533G>A | CA123473 | PAX4 | c.385C>T (p.Arg129Trp) c.361C>T (p.Arg121Trp) c.355C>T (p.Arg119Trp) n.355C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |