| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.117627753A>G | CA325601 | CFTR | c.3517+183A>G (n.3517+183A>G) c.*3414A>G (n.*3414A>G) c.3517A>G (p.Ile1173Val) c.3700A>G (p.Ile1234Val) c.*353A>G (n.*353A>G) c.*361A>G (n.*361A>G) c.*2075A>G (n.*2075A>G) c.3694A>G (p.Ile1232Val) c.*3524A>G (n.*3524A>G) c.3274A>G (p.Ile1092Val) c.448A>G (p.Ile150Val) c.1487A>G (n.1487A>G) c.282A>G c.1167+183A>G c.2482A>G (p.Ile828Val) c.3610A>G (p.Ile1204Val) c.525A>G c.3790A>G (p.Ile1264Val) c.3457A>G (p.Ile1153Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.117627753A= | CA1737398724 | CFTR | c.3517+183A= (n.3517+183A=) c.*3414A= (n.*3414A=) c.3517A= (p.Ile1173=) c.3700A= (p.Ile1234=) c.*353A= (n.*353A=) c.*361A= (n.*361A=) c.*2075A= (n.*2075A=) c.3694A= (p.Ile1232=) c.*3524A= (n.*3524A=) c.3274A= (p.Ile1092=) c.448A= (p.Ile150=) c.1487A= (n.1487A=) c.282A= c.1167+183A= c.2482A= (p.Ile828=) c.3610A= (p.Ile1204=) c.525A= c.3790A= (p.Ile1264=) c.3457A= (p.Ile1153=) | dbSNP |