Chr Mutation (hg38) CAid Gene Transcript Linkouts
7g.117594986C>ACA326841CFTRc.2547C>A (p.Tyr849Ter)
c.*2261C>A (n.*2261C>A)
c.2364C>A (p.Tyr788Ter)
c.*847C>A (n.*847C>A)
c.*2371C>A (n.*2371C>A)
c.2121C>A (p.Tyr707Ter)
c.138C>A (p.Tyr46Ter)
c.197C>A
c.1402-7840C>A (n.1402-7840C>A)
c.2457C>A (p.Tyr819Ter)
c.2637C>A (p.Tyr879Ter)
c.2304C>A (p.Tyr768Ter)
ClinVar dbSNP gnomAD v4
7g.117594986C>TCA457227583CFTRc.2547C>T (p.Tyr849=)
c.*2261C>T (n.*2261C>T)
c.2364C>T (p.Tyr788=)
c.*847C>T (n.*847C>T)
c.*2371C>T (n.*2371C>T)
c.2121C>T (p.Tyr707=)
c.138C>T (p.Tyr46=)
c.197C>T
c.1402-7840C>T (n.1402-7840C>T)
c.2457C>T (p.Tyr819=)
c.2637C>T (p.Tyr879=)
c.2304C>T (p.Tyr768=)
ClinVar dbSNP gnomAD v4

Number of alleles fetched