| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.117530918A>G | CA326985 | CFTR | c.293A>G (p.Gln98Arg) c.*190A>G (n.*190A>G) c.*117A>G (n.*117A>G) c.50A>G (p.Gln17Arg) c.383A>G (p.Gln128Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117530918A>C | CA326983 | CFTR | c.293A>C (p.Gln98Pro) c.*190A>C (n.*190A>C) c.*117A>C (n.*117A>C) c.50A>C (p.Gln17Pro) c.383A>C (p.Gln128Pro) | ClinVar dbSNP |
| 7 | g.117530918A= | CA1737359150 | CFTR | c.293A= (p.Gln98=) c.*190A= (n.*190A=) c.*117A= (n.*117A=) c.50A= (p.Gln17=) c.383A= (p.Gln128=) | dbSNP |