| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.117535285T>G | CA221035 | CFTR | c.617T>G (p.Leu206Trp) c.*514T>G (n.*514T>G) c.*441T>G (n.*441T>G) c.374T>G (p.Leu125Trp) c.527T>G (p.Leu176Trp) c.707T>G (p.Leu236Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117535285T>A | CA368976836 | CFTR | c.617T>A (p.Leu206Ter) c.*514T>A (n.*514T>A) c.*441T>A (n.*441T>A) c.374T>A (p.Leu125Ter) c.527T>A (p.Leu176Ter) c.707T>A (p.Leu236Ter) | ClinVar dbSNP |
| 7 | g.117535285T= | CA1737362130 | CFTR | c.617T= (p.Leu206=) c.*514T= (n.*514T=) c.*441T= (n.*441T=) c.374T= (p.Leu125=) c.527T= (p.Leu176=) c.707T= (p.Leu236=) | dbSNP |