| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.117592362T>G | CA328095 | CFTR | c.2195T>G (p.Leu732Ter) c.*1909T>G (n.*1909T>G) c.2012T>G (p.Leu671Ter) c.*495T>G (n.*495T>G) c.*2019T>G (n.*2019T>G) c.1769T>G (p.Leu590Ter) c.1402-10464T>G (n.1402-10464T>G) c.2105T>G (p.Leu702Ter) c.2285T>G (p.Leu762Ter) c.1952T>G (p.Leu651Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.117592362T= | CA1737394995 | CFTR | c.2195T= (p.Leu732=) c.*1909T= (n.*1909T=) c.2012T= (p.Leu671=) c.*495T= (n.*495T=) c.*2019T= (n.*2019T=) c.1769T= (p.Leu590=) c.1402-10464T= (n.1402-10464T=) c.2105T= (p.Leu702=) c.2285T= (p.Leu762=) c.1952T= (p.Leu651=) | dbSNP |