| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.117642593G>C | CA325548 | CFTR | c.*82G>C (n.*82G>C) c.*3587G>C (n.*3587G>C) c.3690G>C (p.Gln1230His) c.3873G>C (p.Gln1291His) c.*526G>C (n.*526G>C) c.*534G>C (n.*534G>C) c.*2248G>C (n.*2248G>C) c.3867G>C (p.Gln1289His) c.*3697G>C (n.*3697G>C) c.3447G>C (p.Gln1149His) c.621G>C (p.Gln207His) c.1660G>C (n.1660G>C) c.455G>C c.1323G>C c.3783G>C (p.Gln1261His) c.3963G>C (p.Gln1321His) c.3630G>C (p.Gln1210His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.117642593G>A | CA457228541 | CFTR | c.*82G>A (n.*82G>A) c.*3587G>A (n.*3587G>A) c.3690G>A (p.Gln1230=) c.3873G>A (p.Gln1291=) c.*526G>A (n.*526G>A) c.*534G>A (n.*534G>A) c.*2248G>A (n.*2248G>A) c.3867G>A (p.Gln1289=) c.*3697G>A (n.*3697G>A) c.3447G>A (p.Gln1149=) c.621G>A (p.Gln207=) c.1660G>A (n.1660G>A) c.455G>A c.1323G>A c.3783G>A (p.Gln1261=) c.3963G>A (p.Gln1321=) c.3630G>A (p.Gln1210=) | dbSNP gnomAD v4 |
| 7 | g.117642593G= | CA1737404822 | CFTR | c.*82G= (n.*82G=) c.*3587G= (n.*3587G=) c.3690G= (p.Gln1230=) c.3873G= (p.Gln1291=) c.*526G= (n.*526G=) c.*534G= (n.*534G=) c.*2248G= (n.*2248G=) c.3867G= (p.Gln1289=) c.*3697G= (n.*3697G=) c.3447G= (p.Gln1149=) c.621G= (p.Gln207=) c.1660G= (n.1660G=) c.455G= c.1323G= c.3783G= (p.Gln1261=) c.3963G= (p.Gln1321=) c.3630G= (p.Gln1210=) | dbSNP |