| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.48788819del | CA210994 | CEP152 | c.1155del (p.Thr386ProfsTer13) c.876del (p.Thr293ProfsTer13) n.268del n.2120del n.2106del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.48788819G= | CA2175657885 | CEP152 | c.1155C= (p.Val385=) c.876C= (p.Val292=) n.268C= n.2120C= n.2106C= | dbSNP dbSNP |