| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.100824682C>A | CA256976 | PAX2 | c.1047C>A (p.Tyr349Ter) c.1023C>A (p.Tyr341Ter) c.954C>A (p.Tyr318Ter) c.936C>A (p.Tyr312Ter) c.951C>A (p.Tyr317Ter) | ClinVar dbSNP gnomAD v4 |
| 10 | g.100824682C>T | CA5650919 | PAX2 | c.1047C>T (p.Tyr349=) c.1023C>T (p.Tyr341=) c.954C>T (p.Tyr318=) c.936C>T (p.Tyr312=) c.951C>T (p.Tyr317=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |