| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.117611671T>C | CA328111 | CFTR | c.3230T>C (p.Leu1077Pro) c.*2944T>C (n.*2944T>C) c.3047T>C (p.Leu1016Pro) c.*1530T>C (n.*1530T>C) c.*3054T>C (n.*3054T>C) c.2804T>C (p.Leu935Pro) c.821T>C (p.Leu274Pro) c.880T>C c.2012T>C (p.Leu671Pro) c.3140T>C (p.Leu1047Pro) c.55T>C c.3320T>C (p.Leu1107Pro) c.2987T>C (p.Leu996Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117611671T= | CA1737387109 | CFTR | c.3230T= (p.Leu1077=) c.*2944T= (n.*2944T=) c.3047T= (p.Leu1016=) c.*1530T= (n.*1530T=) c.*3054T= (n.*3054T=) c.2804T= (p.Leu935=) c.821T= (p.Leu274=) c.880T= c.2012T= (p.Leu671=) c.3140T= (p.Leu1047=) c.55T= c.3320T= (p.Leu1107=) c.2987T= (p.Leu996=) | dbSNP |