| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.117614706A>T | CA164968943 | CFTR | c.3461A>T (p.Asp1154Val) c.*3175A>T (n.*3175A>T) c.3278A>T (p.Asp1093Val) c.*1836A>T (n.*1836A>T) c.3455A>T (p.Asp1152Val) c.*3285A>T (n.*3285A>T) c.3035A>T (p.Asp1012Val) c.209A>T (p.Asp70Val) c.1052A>T (p.Asp351Val) c.43A>T c.1111A>T c.2243A>T (p.Asp748Val) c.3371A>T (p.Asp1124Val) c.286A>T c.3551A>T (p.Asp1184Val) c.3218A>T (p.Asp1073Val) | dbSNP |
| 7 | g.117614706A>G | CA327198 | CFTR | c.3461A>G (p.Asp1154Gly) c.*3175A>G (n.*3175A>G) c.3278A>G (p.Asp1093Gly) c.*1836A>G (n.*1836A>G) c.3455A>G (p.Asp1152Gly) c.*3285A>G (n.*3285A>G) c.3035A>G (p.Asp1012Gly) c.209A>G (p.Asp70Gly) c.1052A>G (p.Asp351Gly) c.43A>G c.1111A>G c.2243A>G (p.Asp748Gly) c.3371A>G (p.Asp1124Gly) c.286A>G c.3551A>G (p.Asp1184Gly) c.3218A>G (p.Asp1073Gly) | ClinVar dbSNP gnomAD v2 gnomAD v4 |