| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.117540163C>G | CA325549 | CFTR | c.933C>G (p.Phe311Leu) c.*830C>G (n.*830C>G) c.*757C>G (n.*757C>G) c.690C>G (p.Phe230Leu) c.843C>G (p.Phe281Leu) c.1023C>G (p.Phe341Leu) | ClinVar dbSNP gnomAD v4 |
| 7 | g.117540163C>A | CA368978326 | CFTR | c.933C>A (p.Phe311Leu) c.*830C>A (n.*830C>A) c.*757C>A (n.*757C>A) c.690C>A (p.Phe230Leu) c.843C>A (p.Phe281Leu) c.1023C>A (p.Phe341Leu) | ClinVar dbSNP |
| 7 | g.117540163C= | CA1737331899 | CFTR | c.933C= (p.Phe311=) c.*830C= (n.*830C=) c.*757C= (n.*757C=) c.690C= (p.Phe230=) c.843C= (p.Phe281=) c.1023C= (p.Phe341=) | dbSNP |