| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.117587801T>C | CA457227288 | CFTR | c.1647T>C (p.Ser549=) c.*1361T>C (n.*1361T>C) c.1464T>C (p.Ser488=) c.*1471T>C (n.*1471T>C) c.1221T>C (p.Ser407=) c.1402-15025T>C (n.1402-15025T>C) c.1557T>C (p.Ser519=) c.1737T>C (p.Ser579=) c.1404T>C (p.Ser468=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.117587801T>A | CA368976076 | CFTR | c.1647T>A (p.Ser549Arg) c.*1361T>A (n.*1361T>A) c.1464T>A (p.Ser488Arg) c.*1471T>A (n.*1471T>A) c.1221T>A (p.Ser407Arg) c.1402-15025T>A (n.1402-15025T>A) c.1557T>A (p.Ser519Arg) c.1737T>A (p.Ser579Arg) c.1404T>A (p.Ser468Arg) | ClinVar dbSNP |
| 7 | g.117587801T>G | CA254107 | CFTR | c.1647T>G (p.Ser549Arg) c.*1361T>G (n.*1361T>G) c.1464T>G (p.Ser488Arg) c.*1471T>G (n.*1471T>G) c.1221T>G (p.Ser407Arg) c.1402-15025T>G (n.1402-15025T>G) c.1557T>G (p.Ser519Arg) c.1737T>G (p.Ser579Arg) c.1404T>G (p.Ser468Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |