| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.117530953G>T | CA327127 | CFTR | c.328G>T (p.Asp110Tyr) c.*225G>T (n.*225G>T) c.*152G>T (n.*152G>T) c.85G>T (p.Asp29Tyr) c.418G>T (p.Asp140Tyr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.117530953G>C | CA284835 | CFTR | c.328G>C (p.Asp110His) c.*225G>C (n.*225G>C) c.*152G>C (n.*152G>C) c.85G>C (p.Asp29His) c.418G>C (p.Asp140His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117530953G>A | CA368974385 | CFTR | c.328G>A (p.Asp110Asn) c.*225G>A (n.*225G>A) c.*152G>A (n.*152G>A) c.85G>A (p.Asp29Asn) c.418G>A (p.Asp140Asn) | ClinVar dbSNP |