| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.117627665G>T | CA368997180 | CFTR | c.3517+95G>T (n.3517+95G>T) c.*3326G>T (n.*3326G>T) c.3429G>T (p.Trp1143Cys) c.3612G>T (p.Trp1204Cys) c.*265G>T (n.*265G>T) c.*273G>T (n.*273G>T) c.*1987G>T (n.*1987G>T) c.3606G>T (p.Trp1202Cys) c.*3436G>T (n.*3436G>T) c.3186G>T (p.Trp1062Cys) c.360G>T (p.Trp120Cys) c.1399G>T (n.1399G>T) c.194G>T c.1167+95G>T c.2394G>T (p.Trp798Cys) c.3522G>T (p.Trp1174Cys) c.437G>T c.3702G>T (p.Trp1234Cys) c.3369G>T (p.Trp1123Cys) | dbSNP |
| 7 | g.117627665G>A | CA221029 | CFTR | c.3517+95G>A (n.3517+95G>A) c.*3326G>A (n.*3326G>A) c.3429G>A (p.Trp1143Ter) c.3612G>A (p.Trp1204Ter) c.*265G>A (n.*265G>A) c.*273G>A (n.*273G>A) c.*1987G>A (n.*1987G>A) c.3606G>A (p.Trp1202Ter) c.*3436G>A (n.*3436G>A) c.3186G>A (p.Trp1062Ter) c.360G>A (p.Trp120Ter) c.1399G>A (n.1399G>A) c.194G>A c.1167+95G>A c.2394G>A (p.Trp798Ter) c.3522G>A (p.Trp1174Ter) c.437G>A c.3702G>A (p.Trp1234Ter) c.3369G>A (p.Trp1123Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.117627665G= | CA1737398681 | CFTR | c.3517+95G= (n.3517+95G=) c.*3326G= (n.*3326G=) c.3429G= (p.Trp1143=) c.3612G= (p.Trp1204=) c.*265G= (n.*265G=) c.*273G= (n.*273G=) c.*1987G= (n.*1987G=) c.3606G= (p.Trp1202=) c.*3436G= (n.*3436G=) c.3186G= (p.Trp1062=) c.360G= (p.Trp120=) c.1399G= (n.1399G=) c.194G= c.1167+95G= c.2394G= (p.Trp798=) c.3522G= (p.Trp1174=) c.437G= c.3702G= (p.Trp1234=) c.3369G= (p.Trp1123=) | dbSNP |