Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
7 | g.117603782G>A | CA326958 | CFTR | c.2908G>A (p.Gly970Ser) c.*2622G>A (n.*2622G>A) c.2725G>A (p.Gly909Ser) c.*1208G>A (n.*1208G>A) c.*2732G>A (n.*2732G>A) c.2482G>A (p.Gly828Ser) c.499G>A (p.Gly167Ser) c.558G>A c.1690G>A (p.Gly564Ser) c.2818G>A (p.Gly940Ser) c.2998G>A (p.Gly1000Ser) c.2665G>A (p.Gly889Ser) | ClinVar dbSNP gnomAD v4 |
7 | g.117603782G>C | CA328109 | CFTR | c.2908G>C (p.Gly970Arg) c.*2622G>C (n.*2622G>C) c.2725G>C (p.Gly909Arg) c.*1208G>C (n.*1208G>C) c.*2732G>C (n.*2732G>C) c.2482G>C (p.Gly828Arg) c.499G>C (p.Gly167Arg) c.558G>C c.1690G>C (p.Gly564Arg) c.2818G>C (p.Gly940Arg) c.2998G>C (p.Gly1000Arg) c.2665G>C (p.Gly889Arg) | ClinVar dbSNP |