| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.117592295A>T | CA325588 | CFTR | c.2128A>T (p.Lys710Ter) c.*1842A>T (n.*1842A>T) c.1945A>T (p.Lys649Ter) c.*428A>T (n.*428A>T) c.*1952A>T (n.*1952A>T) c.1702A>T (p.Lys568Ter) c.1402-10531A>T (n.1402-10531A>T) c.2038A>T (p.Lys680Ter) c.2218A>T (p.Lys740Ter) c.1885A>T (p.Lys629Ter) | ClinVar dbSNP gnomAD v4 |
| 7 | g.117592295A= | CA1737394835 | CFTR | c.2128A= (p.Lys710=) c.*1842A= (n.*1842A=) c.1945A= (p.Lys649=) c.*428A= (n.*428A=) c.*1952A= (n.*1952A=) c.1702A= (p.Lys568=) c.1402-10531A= (n.1402-10531A=) c.2038A= (p.Lys680=) c.2218A= (p.Lys740=) c.1885A= (p.Lys629=) | dbSNP |