| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.117611646G>A | CA327097 | CFTR | c.3205G>A (p.Gly1069Arg) c.*2919G>A (n.*2919G>A) c.3022G>A (p.Gly1008Arg) c.*1505G>A (n.*1505G>A) c.*3029G>A (n.*3029G>A) c.2779G>A (p.Gly927Arg) c.796G>A (p.Gly266Arg) c.855G>A c.1987G>A (p.Gly663Arg) c.3115G>A (p.Gly1039Arg) c.30G>A c.3295G>A (p.Gly1099Arg) c.2962G>A (p.Gly988Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 7 | g.117611646G>T | CA368992084 | CFTR | c.3205G>T (p.Gly1069Ter) c.*2919G>T (n.*2919G>T) c.3022G>T (p.Gly1008Ter) c.*1505G>T (n.*1505G>T) c.*3029G>T (n.*3029G>T) c.2779G>T (p.Gly927Ter) c.796G>T (p.Gly266Ter) c.855G>T c.1987G>T (p.Gly663Ter) c.3115G>T (p.Gly1039Ter) c.30G>T c.3295G>T (p.Gly1099Ter) c.2962G>T (p.Gly988Ter) | dbSNP gnomAD v3 gnomAD v4 |