Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
7 | g.117611717C>A | CA269813 | CFTR | c.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 |
7 | g.117611717C>G | CA269811 | CFTR | c.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 |
7 | g.117611717C>T | CA457230056 | CFTR | c.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 |