| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.117603684dup | CA260224 | CFTR | c.2810dup (p.Val938GlyfsTer?) c.*2524dup (n.*2524dup) c.2627dup (p.Val877GlyfsTer?) c.*1110dup (n.*1110dup) c.*2634dup (n.*2634dup) c.2384dup (p.Val796GlyfsTer?) c.401dup (p.Val135GlyfsTer?) c.460dup c.1592dup (p.Val532GlyfsTer?) c.2720dup (p.Val908GlyfsTer?) c.2900dup (p.Val968GlyfsTer?) c.2567dup (p.Val857GlyfsTer?) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.117603684T= | CA1737375131 | CFTR | c.2810T= (p.Leu937=) c.*2524T= (n.*2524T=) c.2627T= (p.Leu876=) c.*1110T= (n.*1110T=) c.*2634T= (n.*2634T=) c.2384T= (p.Leu795=) c.401T= (p.Leu134=) c.460T= c.1592T= (p.Leu531=) c.2720T= (p.Leu907=) c.2900T= (p.Leu967=) c.2567T= (p.Leu856=) | dbSNP dbSNP |