| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.117664810dup | CA327394 | CFTR | c.*295dup (n.*295dup) c.*3800dup (n.*3800dup) c.3903dup (p.Lys1302Ter) c.*299dup (n.*299dup) c.*739dup (n.*739dup) c.4086dup (p.Lys1363Ter) c.*747dup (n.*747dup) c.*2461dup (n.*2461dup) c.4080dup (p.Lys1361Ter) c.*3910dup (n.*3910dup) c.3660dup (p.Lys1221Ter) n.2254dup c.950dup (n.950dup) c.1873dup (n.1873dup) c.668dup c.1536dup c.3996dup (p.Lys1333Ter) c.212dup c.4176dup (p.Lys1393Ter) c.3843dup (p.Lys1282Ter) | ClinVar dbSNP gnomAD v4 |
| 7 | g.117664810T= | CA3146045903 | CFTR | c.*295T= (n.*295T=) c.*3800T= (n.*3800T=) c.3903T= (p.Ser1301=) c.*299T= (n.*299T=) c.*739T= (n.*739T=) c.4086T= (p.Ser1362=) c.*747T= (n.*747T=) c.*2461T= (n.*2461T=) c.4080T= (p.Ser1360=) c.*3910T= (n.*3910T=) c.3660T= (p.Ser1220=) n.2254T= c.950T= (n.950T=) c.1873T= (n.1873T=) c.668T= c.1536T= c.3996T= (p.Ser1332=) c.212T= c.4176T= (p.Ser1392=) c.3843T= (p.Ser1281=) | dbSNP |