| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.117587829G>T | CA368976209 | CFTR | c.1675G>T (p.Ala559Ser) c.*1389G>T (n.*1389G>T) c.1492G>T (p.Ala498Ser) c.*1499G>T (n.*1499G>T) c.1249G>T (p.Ala417Ser) c.1402-14997G>T (n.1402-14997G>T) c.1585G>T (p.Ala529Ser) c.1765G>T (p.Ala589Ser) c.1432G>T (p.Ala478Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.117587829G>A | CA340637 | CFTR | c.1675G>A (p.Ala559Thr) c.*1389G>A (n.*1389G>A) c.1492G>A (p.Ala498Thr) c.*1499G>A (n.*1499G>A) c.1249G>A (p.Ala417Thr) c.1402-14997G>A (n.1402-14997G>A) c.1585G>A (p.Ala529Thr) c.1765G>A (p.Ala589Thr) c.1432G>A (p.Ala478Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117587829G= | CA1737390607 | CFTR | c.1675G= (p.Ala559=) c.*1389G= (n.*1389G=) c.1492G= (p.Ala498=) c.*1499G= (n.*1499G=) c.1249G= (p.Ala417=) c.1402-14997G= (n.1402-14997G=) c.1585G= (p.Ala529=) c.1765G= (p.Ala589=) c.1432G= (p.Ala478=) | dbSNP |
| 7 | g.117587829G>C | CA368976213 | CFTR | c.1675G>C (p.Ala559Pro) c.*1389G>C (n.*1389G>C) c.1492G>C (p.Ala498Pro) c.*1499G>C (n.*1499G>C) c.1249G>C (p.Ala417Pro) c.1402-14997G>C (n.1402-14997G>C) c.1585G>C (p.Ala529Pro) c.1765G>C (p.Ala589Pro) c.1432G>C (p.Ala478Pro) | ClinVar dbSNP |