| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.48760150del | CA211034 | CEP152 | c.2679del (p.Ser894LeufsTer2) c.2400del (p.Ser801LeufsTer2) c.720del (p.Ser241LeufsTer2) c.714del (p.Ser239LeufsTer2) n.3644del n.3630del | ClinVar dbSNP |
| 15 | g.48760150G= | CA2175639201 | CEP152 | c.2679C= (p.Val893=) c.2400C= (p.Val800=) c.720C= (p.Val240=) c.714C= (p.Val238=) n.3644C= n.3630C= | dbSNP dbSNP |