| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.127614497G>T | CA457525026 | PAX4 | c.421C>A (p.Arg141=) c.397C>A (p.Arg133=) c.391C>A (p.Arg131=) n.391C>A | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.127614497G>A | CA123475 | PAX4 | c.421C>T (p.Arg141Trp) c.397C>T (p.Arg133Trp) c.391C>T (p.Arg131Trp) n.391C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |