| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.117592508C>T | CA326796 | CFTR | c.2341C>T (p.Gln781Ter) c.*2055C>T (n.*2055C>T) c.2158C>T (p.Gln720Ter) c.*641C>T (n.*641C>T) c.*2165C>T (n.*2165C>T) c.1915C>T (p.Gln639Ter) c.1402-10318C>T (n.1402-10318C>T) c.2251C>T (p.Gln751Ter) c.2431C>T (p.Gln811Ter) c.2098C>T (p.Gln700Ter) | ClinVar dbSNP |
| 7 | g.117592508C>G | CA368981015 | CFTR | c.2341C>G (p.Gln781Glu) c.*2055C>G (n.*2055C>G) c.2158C>G (p.Gln720Glu) c.*641C>G (n.*641C>G) c.*2165C>G (n.*2165C>G) c.1915C>G (p.Gln639Glu) c.1402-10318C>G (n.1402-10318C>G) c.2251C>G (p.Gln751Glu) c.2431C>G (p.Gln811Glu) c.2098C>G (p.Gln700Glu) | ClinVar dbSNP gnomAD v4 |
| 7 | g.117592508C= | CA1737395291 | CFTR | c.2341C= (p.Gln781=) c.*2055C= (n.*2055C=) c.2158C= (p.Gln720=) c.*641C= (n.*641C=) c.*2165C= (n.*2165C=) c.1915C= (p.Gln639=) c.1402-10318C= (n.1402-10318C=) c.2251C= (p.Gln751=) c.2431C= (p.Gln811=) c.2098C= (p.Gln700=) | dbSNP |