| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.117611638G>T | CA327087 | CFTR | c.3197G>T (p.Arg1066Leu) c.*2911G>T (n.*2911G>T) c.3014G>T (p.Arg1005Leu) c.*1497G>T (n.*1497G>T) c.*3021G>T (n.*3021G>T) c.2771G>T (p.Arg924Leu) c.788G>T (p.Arg263Leu) c.847G>T c.1979G>T (p.Arg660Leu) c.3107G>T (p.Arg1036Leu) c.22G>T c.3287G>T (p.Arg1096Leu) c.2954G>T (p.Arg985Leu) | ClinVar dbSNP |
| 7 | g.117611638G>A | CA325555 | CFTR | c.3197G>A (p.Arg1066His) c.*2911G>A (n.*2911G>A) c.3014G>A (p.Arg1005His) c.*1497G>A (n.*1497G>A) c.*3021G>A (n.*3021G>A) c.2771G>A (p.Arg924His) c.788G>A (p.Arg263His) c.847G>A c.1979G>A (p.Arg660His) c.3107G>A (p.Arg1036His) c.22G>A c.3287G>A (p.Arg1096His) c.2954G>A (p.Arg985His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |