Chr Mutation (hg38) CAid Gene Transcript Linkouts
7g.117627665G>TCA368997180CFTRc.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
7g.117627665G>ACA221029CFTRc.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

Number of alleles fetched