| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.117540231G>T | CA326360 | CFTR | c.1001G>T (p.Arg334Leu) c.*898G>T (n.*898G>T) c.*825G>T (n.*825G>T) c.758G>T (p.Arg253Leu) c.911G>T (p.Arg304Leu) c.1091G>T (p.Arg364Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117540231G>A | CA326358 | CFTR | c.1001G>A (p.Arg334Gln) c.*898G>A (n.*898G>A) c.*825G>A (n.*825G>A) c.758G>A (p.Arg253Gln) c.911G>A (p.Arg304Gln) c.1091G>A (p.Arg364Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |