Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
7 | g.117642577T>G | CA368975550 | CFTR | c.*66T>G (n.*66T>G) c.*3571T>G (n.*3571T>G) c.3674T>G (p.Phe1225Cys) c.3857T>G (p.Phe1286Cys) c.*510T>G (n.*510T>G) c.*518T>G (n.*518T>G) c.*2232T>G (n.*2232T>G) c.3851T>G (p.Phe1284Cys) c.*3681T>G (n.*3681T>G) c.3431T>G (p.Phe1144Cys) c.605T>G (p.Phe202Cys) c.1644T>G (n.1644T>G) c.439T>G c.1307T>G c.3767T>G (p.Phe1256Cys) c.3947T>G (p.Phe1316Cys) c.3614T>G (p.Phe1205Cys) | ClinVar dbSNP gnomAD v4 |
7 | g.117642577T>C | CA325574 | CFTR | c.*66T>C (n.*66T>C) c.*3571T>C (n.*3571T>C) c.3674T>C (p.Phe1225Ser) c.3857T>C (p.Phe1286Ser) c.*510T>C (n.*510T>C) c.*518T>C (n.*518T>C) c.*2232T>C (n.*2232T>C) c.3851T>C (p.Phe1284Ser) c.*3681T>C (n.*3681T>C) c.3431T>C (p.Phe1144Ser) c.605T>C (p.Phe202Ser) c.1644T>C (n.1644T>C) c.439T>C c.1307T>C c.3767T>C (p.Phe1256Ser) c.3947T>C (p.Phe1316Ser) c.3614T>C (p.Phe1205Ser) | ClinVar dbSNP |