| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.117536598T>G | CA327651 | CFTR | c.794T>G (p.Met265Arg) c.*691T>G (n.*691T>G) c.*618T>G (n.*618T>G) c.551T>G (p.Met184Arg) c.704T>G (p.Met235Arg) c.884T>G (p.Met295Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117536598T= | CA1737327115 | CFTR | c.794T= (p.Met265=) c.*691T= (n.*691T=) c.*618T= (n.*618T=) c.551T= (p.Met184=) c.704T= (p.Met235=) c.884T= (p.Met295=) | dbSNP |