| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 21 | g.32666564del | CA16609238 | SYNJ1 | c.1938del (p.Gln647ArgfsTer6) c.1806del (p.Gln603ArgfsTer6) c.1821del (p.Gln608ArgfsTer6) c.1923del (p.Gln642ArgfsTer6) | ClinVar dbSNP |
| 21 | g.32666564A= | CA3241995164 | SYNJ1 | c.1938T= (p.Asn646=) c.1806T= (p.Asn602=) c.1821T= (p.Asn607=) c.1923T= (p.Asn641=) | dbSNP |