| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.117530921C>T | CA326991 | CFTR | c.296C>T (p.Pro99Leu) c.*193C>T (n.*193C>T) c.*120C>T (n.*120C>T) c.53C>T (p.Pro18Leu) c.386C>T (p.Pro129Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.117530921C>G | CA368974267 | CFTR | c.296C>G (p.Pro99Arg) c.*193C>G (n.*193C>G) c.*120C>G (n.*120C>G) c.53C>G (p.Pro18Arg) c.386C>G (p.Pro129Arg) | ClinVar dbSNP |
| 7 | g.117530921C= | CA1737359165 | CFTR | c.296C= (p.Pro99=) c.*193C= (n.*193C=) c.*120C= (n.*120C=) c.53C= (p.Pro18=) c.386C= (p.Pro129=) | dbSNP |