| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.117606695C>G | CA368989013 | CFTR | c.2930C>G (p.Ser977Cys) c.*2644C>G (n.*2644C>G) c.2747C>G (p.Ser916Cys) c.*1230C>G (n.*1230C>G) c.*2754C>G (n.*2754C>G) c.2504C>G (p.Ser835Cys) c.521C>G (p.Ser174Cys) c.580C>G c.1712C>G (p.Ser571Cys) c.2840C>G (p.Ser947Cys) c.3020C>G (p.Ser1007Cys) c.2687C>G (p.Ser896Cys) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.117606695C>T | CA326975 | CFTR | c.2930C>T (p.Ser977Phe) c.*2644C>T (n.*2644C>T) c.2747C>T (p.Ser916Phe) c.*1230C>T (n.*1230C>T) c.*2754C>T (n.*2754C>T) c.2504C>T (p.Ser835Phe) c.521C>T (p.Ser174Phe) c.580C>T c.1712C>T (p.Ser571Phe) c.2840C>T (p.Ser947Phe) c.3020C>T (p.Ser1007Phe) c.2687C>T (p.Ser896Phe) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |