| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.117611794C>T | CA327152 | CFTR | c.3353C>T (p.Ser1118Phe) c.*3067C>T (n.*3067C>T) c.3170C>T (p.Ser1057Phe) c.*1653C>T (n.*1653C>T) c.*3177C>T (n.*3177C>T) c.2927C>T (p.Ser976Phe) c.101C>T (p.Ser34Phe) c.944C>T (p.Ser315Phe) c.1003C>T c.2135C>T (p.Ser712Phe) c.3263C>T (p.Ser1088Phe) c.178C>T c.3443C>T (p.Ser1148Phe) c.3110C>T (p.Ser1037Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117611794C>G | CA327150 | CFTR | c.3353C>G (p.Ser1118Cys) c.*3067C>G (n.*3067C>G) c.3170C>G (p.Ser1057Cys) c.*1653C>G (n.*1653C>G) c.*3177C>G (n.*3177C>G) c.2927C>G (p.Ser976Cys) c.101C>G (p.Ser34Cys) c.944C>G (p.Ser315Cys) c.1003C>G c.2135C>G (p.Ser712Cys) c.3263C>G (p.Ser1088Cys) c.178C>G c.3443C>G (p.Ser1148Cys) c.3110C>G (p.Ser1037Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |