| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.117611595T>C | CA368991806 | CFTR | c.3154T>C (p.Phe1052Leu) c.*2868T>C (n.*2868T>C) c.2971T>C (p.Phe991Leu) c.*1454T>C (n.*1454T>C) c.*2978T>C (n.*2978T>C) c.2728T>C (p.Phe910Leu) c.745T>C (p.Phe249Leu) c.804T>C c.1936T>C (p.Phe646Leu) c.3064T>C (p.Phe1022Leu) c.3244T>C (p.Phe1082Leu) c.2911T>C (p.Phe971Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.117611595T>G | CA327067 | CFTR | c.3154T>G (p.Phe1052Val) c.*2868T>G (n.*2868T>G) c.2971T>G (p.Phe991Val) c.*1454T>G (n.*1454T>G) c.*2978T>G (n.*2978T>G) c.2728T>G (p.Phe910Val) c.745T>G (p.Phe249Val) c.804T>G c.1936T>G (p.Phe646Val) c.3064T>G (p.Phe1022Val) c.3244T>G (p.Phe1082Val) c.2911T>G (p.Phe971Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |