| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.117509040G>A | CA325570 | CFTR | c.171G>A (p.Trp57Ter) c.*68G>A (n.*68G>A) c.169G>A (p.Gly57Arg) c.-73G>A (n.-73G>A) n.255G>A n.328G>A c.261G>A (p.Trp87Ter) | ClinVar dbSNP gnomAD v4 |
| 7 | g.117509040G= | CA1737340264 | CFTR | c.171G= (p.Trp57=) c.*68G= (n.*68G=) c.169G= (p.Gly57=) c.-73G= (n.-73G=) n.255G= n.328G= c.261G= (p.Trp87=) | dbSNP |