Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
7 | g.117542102G>A | CA328083 | CFTR | c.1203G>A (p.Trp401Ter) c.*1100G>A (n.*1100G>A) c.*1027G>A (n.*1027G>A) c.960G>A (p.Trp320Ter) c.1113G>A (p.Trp371Ter) c.1293G>A (p.Trp431Ter) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
7 | g.117542102G>C | CA4450922 | CFTR | c.1203G>C (p.Trp401Cys) c.*1100G>C (n.*1100G>C) c.*1027G>C (n.*1027G>C) c.960G>C (p.Trp320Cys) c.1113G>C (p.Trp371Cys) c.1293G>C (p.Trp431Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |