| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.117530899G>A | CA325572 | CFTR | c.274G>A (p.Glu92Lys) c.*171G>A (n.*171G>A) c.*98G>A (n.*98G>A) c.31G>A (p.Glu11Lys) c.364G>A (p.Glu122Lys) | ClinVar dbSNP gnomAD v4 COSMIC |
| 7 | g.117530899G>T | CA325576 | CFTR | c.274G>T (p.Glu92Ter) c.*171G>T (n.*171G>T) c.*98G>T (n.*98G>T) c.31G>T (p.Glu11Ter) c.364G>T (p.Glu122Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |