| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.57904844dup | CA270082 | CNGB1 | c.2524dup (p.Thr842AsnfsTer10) c.2506dup (p.Thr836AsnfsTer10) n.181dup c.1375dup (p.Thr459AsnfsTer10) | ClinVar dbSNP |
| 16 | g.57904844T= | CA2224829743 | CNGB1 | c.2524A= (p.Thr842=) c.2506A= (p.Thr836=) n.181A= c.1375A= (p.Thr459=) | dbSNP dbSNP |