| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.117606701A>T | CA326979 | CFTR | c.2936A>T (p.Asp979Val) c.*2650A>T (n.*2650A>T) c.2753A>T (p.Asp918Val) c.*1236A>T (n.*1236A>T) c.*2760A>T (n.*2760A>T) c.2510A>T (p.Asp837Val) c.527A>T (p.Asp176Val) c.586A>T c.1718A>T (p.Asp573Val) c.2846A>T (p.Asp949Val) c.3026A>T (p.Asp1009Val) c.2693A>T (p.Asp898Val) | ClinVar dbSNP |
| 7 | g.117606701A>G | CA368989039 | CFTR | c.2936A>G (p.Asp979Gly) c.*2650A>G (n.*2650A>G) c.2753A>G (p.Asp918Gly) c.*1236A>G (n.*1236A>G) c.*2760A>G (n.*2760A>G) c.2510A>G (p.Asp837Gly) c.527A>G (p.Asp176Gly) c.586A>G c.1718A>G (p.Asp573Gly) c.2846A>G (p.Asp949Gly) c.3026A>G (p.Asp1009Gly) c.2693A>G (p.Asp898Gly) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.117606701A>C | CA326977 | CFTR | c.2936A>C (p.Asp979Ala) c.*2650A>C (n.*2650A>C) c.2753A>C (p.Asp918Ala) c.*1236A>C (n.*1236A>C) c.*2760A>C (n.*2760A>C) c.2510A>C (p.Asp837Ala) c.527A>C (p.Asp176Ala) c.586A>C c.1718A>C (p.Asp573Ala) c.2846A>C (p.Asp949Ala) c.3026A>C (p.Asp1009Ala) c.2693A>C (p.Asp898Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |