| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.117665556C>T | CA327461 | CFTR | c.*443C>T (n.*443C>T) c.*3948C>T (n.*3948C>T) c.4051C>T (p.Gln1351Ter) c.*447C>T (n.*447C>T) c.*887C>T (n.*887C>T) c.4234C>T (p.Gln1412Ter) c.*895C>T (n.*895C>T) c.*2609C>T (n.*2609C>T) c.4228C>T (p.Gln1410Ter) c.*4058C>T (n.*4058C>T) c.3808C>T (p.Gln1270Ter) n.2402C>T c.1098C>T (n.1098C>T) c.2021C>T (n.2021C>T) c.816C>T c.1684C>T c.4144C>T (p.Gln1382Ter) c.360C>T c.4324C>T (p.Gln1442Ter) c.3991C>T (p.Gln1331Ter) | ClinVar dbSNP ExAC gnomAD v4 |
| 7 | g.117665556C>A | CA368983805 | CFTR | c.*443C>A (n.*443C>A) c.*3948C>A (n.*3948C>A) c.4051C>A (p.Gln1351Lys) c.*447C>A (n.*447C>A) c.*887C>A (n.*887C>A) c.4234C>A (p.Gln1412Lys) c.*895C>A (n.*895C>A) c.*2609C>A (n.*2609C>A) c.4228C>A (p.Gln1410Lys) c.*4058C>A (n.*4058C>A) c.3808C>A (p.Gln1270Lys) n.2402C>A c.1098C>A (n.1098C>A) c.2021C>A (n.2021C>A) c.816C>A c.1684C>A c.4144C>A (p.Gln1382Lys) c.360C>A c.4324C>A (p.Gln1442Lys) c.3991C>A (p.Gln1331Lys) | dbSNP gnomAD v4 |
| 7 | g.117665556C= | CA1737423020 | CFTR | c.*443C= (n.*443C=) c.*3948C= (n.*3948C=) c.4051C= (p.Gln1351=) c.*447C= (n.*447C=) c.*887C= (n.*887C=) c.4234C= (p.Gln1412=) c.*895C= (n.*895C=) c.*2609C= (n.*2609C=) c.4228C= (p.Gln1410=) c.*4058C= (n.*4058C=) c.3808C= (p.Gln1270=) n.2402C= c.1098C= (n.1098C=) c.2021C= (n.2021C=) c.816C= c.1684C= c.4144C= (p.Gln1382=) c.360C= c.4324C= (p.Gln1442=) c.3991C= (p.Gln1331=) | dbSNP |