| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.117665553C>T | CA327459 | CFTR | c.*440C>T (n.*440C>T) c.*3945C>T (n.*3945C>T) c.4048C>T (p.Gln1350Ter) c.*444C>T (n.*444C>T) c.*884C>T (n.*884C>T) c.4231C>T (p.Gln1411Ter) c.*892C>T (n.*892C>T) c.*2606C>T (n.*2606C>T) c.4225C>T (p.Gln1409Ter) c.*4055C>T (n.*4055C>T) c.3805C>T (p.Gln1269Ter) n.2399C>T c.1095C>T (n.1095C>T) c.2018C>T (n.2018C>T) c.813C>T c.1681C>T c.4141C>T (p.Gln1381Ter) c.357C>T c.4321C>T (p.Gln1441Ter) c.3988C>T (p.Gln1330Ter) | ClinVar dbSNP |
| 7 | g.117665553C= | CA1737423010 | CFTR | c.*440C= (n.*440C=) c.*3945C= (n.*3945C=) c.4048C= (p.Gln1350=) c.*444C= (n.*444C=) c.*884C= (n.*884C=) c.4231C= (p.Gln1411=) c.*892C= (n.*892C=) c.*2606C= (n.*2606C=) c.4225C= (p.Gln1409=) c.*4055C= (n.*4055C=) c.3805C= (p.Gln1269=) n.2399C= c.1095C= (n.1095C=) c.2018C= (n.2018C=) c.813C= c.1681C= c.4141C= (p.Gln1381=) c.357C= c.4321C= (p.Gln1441=) c.3988C= (p.Gln1330=) | dbSNP |