| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.117611653A>C | CA325597 | CFTR | c.3212A>C (p.Gln1071Pro) c.*2926A>C (n.*2926A>C) c.3029A>C (p.Gln1010Pro) c.*1512A>C (n.*1512A>C) c.*3036A>C (n.*3036A>C) c.2786A>C (p.Gln929Pro) c.803A>C (p.Gln268Pro) c.862A>C c.1994A>C (p.Gln665Pro) c.3122A>C (p.Gln1041Pro) c.37A>C c.3302A>C (p.Gln1101Pro) c.2969A>C (p.Gln990Pro) | ClinVar dbSNP |
| 7 | g.117611653A>G | CA368992101 | CFTR | c.3212A>G (p.Gln1071Arg) c.*2926A>G (n.*2926A>G) c.3029A>G (p.Gln1010Arg) c.*1512A>G (n.*1512A>G) c.*3036A>G (n.*3036A>G) c.2786A>G (p.Gln929Arg) c.803A>G (p.Gln268Arg) c.862A>G c.1994A>G (p.Gln665Arg) c.3122A>G (p.Gln1041Arg) c.37A>G c.3302A>G (p.Gln1101Arg) c.2969A>G (p.Gln990Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |