| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.117540305C>A | CA353709 | CFTR | c.1075C>A (p.Gln359Lys) c.*972C>A (n.*972C>A) c.*899C>A (n.*899C>A) c.832C>A (p.Gln278Lys) c.985C>A (p.Gln329Lys) c.1165C>A (p.Gln389Lys) | ClinVar dbSNP |
| 7 | g.117540305C>T | CA368978974 | CFTR | c.1075C>T (p.Gln359Ter) c.*972C>T (n.*972C>T) c.*899C>T (n.*899C>T) c.832C>T (p.Gln278Ter) c.985C>T (p.Gln329Ter) c.1165C>T (p.Gln389Ter) | dbSNP gnomAD v4 |
| 7 | g.117540305C>G | CA368978973 | CFTR | c.1075C>G (p.Gln359Glu) c.*972C>G (n.*972C>G) c.*899C>G (n.*899C>G) c.832C>G (p.Gln278Glu) c.985C>G (p.Gln329Glu) c.1165C>G (p.Gln389Glu) | dbSNP gnomAD v4 |
| 7 | g.117540305C= | CA1737332560 | CFTR | c.1075C= (p.Gln359=) c.*972C= (n.*972C=) c.*899C= (n.*899C=) c.832C= (p.Gln278=) c.985C= (p.Gln329=) c.1165C= (p.Gln389=) | dbSNP |