| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.117587811C>T | CA340635 | CFTR | c.1657C>T (p.Arg553Ter) c.*1371C>T (n.*1371C>T) c.1474C>T (p.Arg492Ter) c.*1481C>T (n.*1481C>T) c.1231C>T (p.Arg411Ter) c.1402-15015C>T (n.1402-15015C>T) c.1567C>T (p.Arg523Ter) c.1747C>T (p.Arg583Ter) c.1414C>T (p.Arg472Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117587811C>G | CA326583 | CFTR | c.1657C>G (p.Arg553Gly) c.*1371C>G (n.*1371C>G) c.1474C>G (p.Arg492Gly) c.*1481C>G (n.*1481C>G) c.1231C>G (p.Arg411Gly) c.1402-15015C>G (n.1402-15015C>G) c.1567C>G (p.Arg523Gly) c.1747C>G (p.Arg583Gly) c.1414C>G (p.Arg472Gly) | ClinVar dbSNP gnomAD v4 |