| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.117530974C>G | CA327217 | CFTR | c.349C>G (p.Arg117Gly) c.*246C>G (n.*246C>G) c.*173C>G (n.*173C>G) c.106C>G (p.Arg36Gly) c.439C>G (p.Arg147Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117530974C>T | CA328115 | CFTR | c.349C>T (p.Arg117Cys) c.*246C>T (n.*246C>T) c.*173C>T (n.*173C>T) c.106C>T (p.Arg36Cys) c.439C>T (p.Arg147Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117530974C>A | CA4450711 | CFTR | c.349C>A (p.Arg117Ser) c.*246C>A (n.*246C>A) c.*173C>A (n.*173C>A) c.106C>A (p.Arg36Ser) c.439C>A (p.Arg147Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.117530974C= | CA1737359370 | CFTR | c.349C= (p.Arg117=) c.*246C= (n.*246C=) c.*173C= (n.*173C=) c.106C= (p.Arg36=) c.439C= (p.Arg147=) | dbSNP |