| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 13 | g.76996084dup | CA263910 | CLN5,FBXL3 | c.522dup (p.Trp175LeufsTer30) c.522dup (p.Trp175LeufsTer16) c.522dup (p.Trp175LeufsTer28) c.131dup n.523dup c.520dup n.589dup n.2034dup c.522dup (p.Trp175LeufsTer23) n.468dup c.*213dup (n.*213dup) c.358dup c.522dup (p.Trp175LeufsTer19) c.170dup n.848dup c.126dup (p.Trp43LeufsTer20) c.522dup (p.Trp175LeufsTer?) c.669dup (p.Trp224LeufsTer30) n.174-3133dup c.505dup c.669dup (p.Trp224LeufsTer19) c.644-3133dup (n.644-3133dup) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.76996084C= | CA3200708997 | CLN5,FBXL3 | c.522C= (p.His174=) c.131C= n.523C= c.520C= n.589C= n.2034C= n.468C= c.*213C= (n.*213C=) c.358C= c.170C= n.848C= c.126C= (p.His42=) c.669C= (p.His223=) n.174-3133G= c.505C= c.644-3133G= (n.644-3133G=) | dbSNP dbSNP |