| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.100781310del | CA256964 | PAX2 | c.654del (p.Asn219MetfsTer?) c.561del (p.Asn188MetfsTer?) c.543del (p.Asn182MetfsTer?) c.558del (p.Asn187MetfsTer?) n.282del c.573del (p.Asn192MetfsTer?) n.276del | ClinVar dbSNP |
| 10 | g.100781310C= | CA1931936382 | PAX2 | c.654C= (p.Ile218=) c.561C= (p.Ile187=) c.543C= (p.Ile181=) c.558C= (p.Ile186=) n.282C= c.573C= (p.Ile191=) n.276C= | dbSNP dbSNP |