| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.117627525C>A | CA368995917 | CFTR | c.3472C>A (p.Arg1158=) c.*3186C>A (n.*3186C>A) c.3289C>A (p.Arg1097=) c.*125C>A (n.*125C>A) c.*133C>A (n.*133C>A) c.*1847C>A (n.*1847C>A) c.3466C>A (p.Arg1156=) c.*3296C>A (n.*3296C>A) c.3046C>A (p.Arg1016=) c.220C>A (p.Arg74=) c.1259C>A (n.1259C>A) c.54C>A c.1122C>A c.2254C>A (p.Arg752=) c.3382C>A (p.Arg1128=) c.297C>A c.3562C>A (p.Arg1188=) c.3229C>A (p.Arg1077=) | ClinVar dbSNP gnomAD v4 |
| 7 | g.117627525C>T | CA325537 | CFTR | c.3472C>T (p.Arg1158Ter) c.*3186C>T (n.*3186C>T) c.3289C>T (p.Arg1097Ter) c.*125C>T (n.*125C>T) c.*133C>T (n.*133C>T) c.*1847C>T (n.*1847C>T) c.3466C>T (p.Arg1156Ter) c.*3296C>T (n.*3296C>T) c.3046C>T (p.Arg1016Ter) c.220C>T (p.Arg74Ter) c.1259C>T (n.1259C>T) c.54C>T c.1122C>T c.2254C>T (p.Arg752Ter) c.3382C>T (p.Arg1128Ter) c.297C>T c.3562C>T (p.Arg1188Ter) c.3229C>T (p.Arg1077Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |