| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.117627765C>A | CA4451519 | CFTR | c.3517+195C>A (n.3517+195C>A) c.*3426C>A (n.*3426C>A) c.3529C>A (p.Gln1177Lys) c.3712C>A (p.Gln1238Lys) c.*365C>A (n.*365C>A) c.*373C>A (n.*373C>A) c.*2087C>A (n.*2087C>A) c.3706C>A (p.Gln1236Lys) c.*3536C>A (n.*3536C>A) c.3286C>A (p.Gln1096Lys) c.460C>A (p.Gln154Lys) c.1499C>A (n.1499C>A) c.294C>A c.1167+195C>A c.2494C>A (p.Gln832Lys) c.3622C>A (p.Gln1208Lys) c.537C>A c.3802C>A (p.Gln1268Lys) c.3469C>A (p.Gln1157Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.117627765C>T | CA325566 | CFTR | c.3517+195C>T (n.3517+195C>T) c.*3426C>T (n.*3426C>T) c.3529C>T (p.Gln1177Ter) c.3712C>T (p.Gln1238Ter) c.*365C>T (n.*365C>T) c.*373C>T (n.*373C>T) c.*2087C>T (n.*2087C>T) c.3706C>T (p.Gln1236Ter) c.*3536C>T (n.*3536C>T) c.3286C>T (p.Gln1096Ter) c.460C>T (p.Gln154Ter) c.1499C>T (n.1499C>T) c.294C>T c.1167+195C>T c.2494C>T (p.Gln832Ter) c.3622C>T (p.Gln1208Ter) c.537C>T c.3802C>T (p.Gln1268Ter) c.3469C>T (p.Gln1157Ter) | ClinVar dbSNP |