| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.117642566G>C | CA4451556 | CFTR | c.*55G>C (n.*55G>C) c.*3560G>C (n.*3560G>C) c.3663G>C (p.Trp1221Cys) c.3846G>C (p.Trp1282Cys) c.*499G>C (n.*499G>C) c.*507G>C (n.*507G>C) c.*2221G>C (n.*2221G>C) c.3840G>C (p.Trp1280Cys) c.*3670G>C (n.*3670G>C) c.3420G>C (p.Trp1140Cys) c.594G>C (p.Trp198Cys) c.1633G>C (n.1633G>C) c.428G>C c.1296G>C c.3756G>C (p.Trp1252Cys) c.3936G>C (p.Trp1312Cys) c.3603G>C (p.Trp1201Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117642566G>A | CA340638 | CFTR | c.*55G>A (n.*55G>A) c.*3560G>A (n.*3560G>A) c.3663G>A (p.Trp1221Ter) c.3846G>A (p.Trp1282Ter) c.*499G>A (n.*499G>A) c.*507G>A (n.*507G>A) c.*2221G>A (n.*2221G>A) c.3840G>A (p.Trp1280Ter) c.*3670G>A (n.*3670G>A) c.3420G>A (p.Trp1140Ter) c.594G>A (p.Trp198Ter) c.1633G>A (n.1633G>A) c.428G>A c.1296G>A c.3756G>A (p.Trp1252Ter) c.3936G>A (p.Trp1312Ter) c.3603G>A (p.Trp1201Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |