Chr Mutation (hg38) CAid Gene Transcript Linkouts
7g.117611717C>ACA269813CFTRc.3276C>A (p.Tyr1092Ter)
c.*2990C>A (n.*2990C>A)
c.3093C>A (p.Tyr1031Ter)
c.*1576C>A (n.*1576C>A)
c.*3100C>A (n.*3100C>A)
c.2850C>A (p.Tyr950Ter)
c.24C>A (p.Tyr8Ter)
c.867C>A (p.Tyr289Ter)
c.926C>A
c.2058C>A (p.Tyr686Ter)
c.3186C>A (p.Tyr1062Ter)
c.101C>A
c.3366C>A (p.Tyr1122Ter)
c.3033C>A (p.Tyr1011Ter)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
7g.117611717C>GCA269811CFTRc.3276C>G (p.Tyr1092Ter)
c.*2990C>G (n.*2990C>G)
c.3093C>G (p.Tyr1031Ter)
c.*1576C>G (n.*1576C>G)
c.*3100C>G (n.*3100C>G)
c.2850C>G (p.Tyr950Ter)
c.24C>G (p.Tyr8Ter)
c.867C>G (p.Tyr289Ter)
c.926C>G
c.2058C>G (p.Tyr686Ter)
c.3186C>G (p.Tyr1062Ter)
c.101C>G
c.3366C>G (p.Tyr1122Ter)
c.3033C>G (p.Tyr1011Ter)
ClinVar dbSNP gnomAD v4
7g.117611717C>TCA457230056CFTRc.3276C>T (p.Tyr1092=)
c.*2990C>T (n.*2990C>T)
c.3093C>T (p.Tyr1031=)
c.*1576C>T (n.*1576C>T)
c.*3100C>T (n.*3100C>T)
c.2850C>T (p.Tyr950=)
c.24C>T (p.Tyr8=)
c.867C>T (p.Tyr289=)
c.926C>T
c.2058C>T (p.Tyr686=)
c.3186C>T (p.Tyr1062=)
c.101C>T
c.3366C>T (p.Tyr1122=)
c.3033C>T (p.Tyr1011=)
dbSNP gnomAD v4

Number of alleles fetched