Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
7 | g.117509132T>G | CA326876 | CFTR | c.263T>G (p.Leu88Ter) c.*160T>G (n.*160T>G) c.*87T>G (n.*87T>G) c.20T>G (p.Leu7Ter) n.347T>G n.420T>G c.353T>G (p.Leu118Ter) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
7 | g.117509132T>C | CA326874 | CFTR | c.263T>C (p.Leu88Ser) c.*160T>C (n.*160T>C) c.*87T>C (n.*87T>C) c.20T>C (p.Leu7Ser) n.347T>C n.420T>C c.353T>C (p.Leu118Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117509132T>A | CA326872 | CFTR | c.263T>A (p.Leu88Ter) c.*160T>A (n.*160T>A) c.*87T>A (n.*87T>A) c.20T>A (p.Leu7Ter) n.347T>A n.420T>A c.353T>A (p.Leu118Ter) | ClinVar dbSNP |