| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.48739004_48739005del | CA7548105 | CEP152 | c.4378_4379del (p.Val1460PhefsTer3) c.4210_4211del (p.Val1404PhefsTer3) c.142+2627_142+2628del (n.142+2627_142+2628del) c.4348_4349del (p.Val1450PhefsTer3) c.4093+2597_4093+2598del (n.4093+2597_4093+2598del) c.4064-1783_4064-1782del (n.4064-1783_4064-1782del) c.4063+2627_4063+2628del (n.4063+2627_4063+2628del) c.2419_2420del (p.Val807PhefsTer3) c.2413_2414del (p.Val805PhefsTer3) n.5029-1783_5029-1782del n.5058+2597_5058+2598del n.5028+2627_5028+2628del c.*248_*249del (n.*248_*249del) c.4180_4181del (p.Val1394PhefsTer3) n.5014+2627_5014+2628del n.5015-1783_5015-1782del n.5044+2597_5044+2598del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48739004_48739005dup | CA2175637867 | CEP152 | c.4378_4379dup (p.Ser1461PhefsTer?) c.4210_4211dup (p.Ser1405PhefsTer?) c.142+2627_142+2628dup (n.142+2627_142+2628dup) c.4348_4349dup (p.Ser1451PhefsTer?) c.4093+2597_4093+2598dup (n.4093+2597_4093+2598dup) c.4064-1783_4064-1782dup (n.4064-1783_4064-1782dup) c.4063+2627_4063+2628dup (n.4063+2627_4063+2628dup) c.2419_2420dup (p.Ser808PhefsTer?) c.2413_2414dup (p.Ser806PhefsTer?) n.5029-1783_5029-1782dup n.5058+2597_5058+2598dup n.5028+2627_5028+2628dup c.*248_*249dup (n.*248_*249dup) c.4180_4181dup (p.Ser1395PhefsTer?) n.5014+2627_5014+2628dup n.5015-1783_5015-1782dup n.5044+2597_5044+2598dup | dbSNP |