| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.117530975G>T | CA327222 | CFTR | c.350G>T (p.Arg117Leu) c.*247G>T (n.*247G>T) c.*174G>T (n.*174G>T) c.107G>T (p.Arg36Leu) c.440G>T (p.Arg147Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117530975G>A | CA221026 | CFTR | c.350G>A (p.Arg117His) c.*247G>A (n.*247G>A) c.*174G>A (n.*174G>A) c.107G>A (p.Arg36His) c.440G>A (p.Arg147His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117530975G>C | CA327221 | CFTR | c.350G>C (p.Arg117Pro) c.*247G>C (n.*247G>C) c.*174G>C (n.*174G>C) c.107G>C (p.Arg36Pro) c.440G>C (p.Arg147Pro) | ClinVar dbSNP gnomAD v4 |