| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.127615412G>A | CA123477 | PAX4 | c.133C>T (p.Arg45Trp) c.109C>T (p.Arg37Trp) c.-203C>T (n.-203C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 7 | g.127615412G= | CA1742011095 | PAX4 | c.133C= (p.Arg45=) c.109C= (p.Arg37=) c.-203C= (n.-203C=) | dbSNP |
| 7 | g.127615412G>T | CA457525084 | PAX4 | c.133C>A (p.Arg45=) c.109C>A (p.Arg37=) c.-203C>A (n.-203C>A) | dbSNP gnomAD v4 |