| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.117611745A>T | CA327138 | CFTR | c.3304A>T (p.Arg1102Ter) c.*3018A>T (n.*3018A>T) c.3121A>T (p.Arg1041Ter) c.*1604A>T (n.*1604A>T) c.*3128A>T (n.*3128A>T) c.2878A>T (p.Arg960Ter) c.52A>T (p.Arg18Ter) c.895A>T (p.Arg299Ter) c.954A>T c.2086A>T (p.Arg696Ter) c.3214A>T (p.Arg1072Ter) c.129A>T c.3394A>T (p.Arg1132Ter) c.3061A>T (p.Arg1021Ter) | ClinVar dbSNP |
| 7 | g.117611745A= | CA1737387470 | CFTR | c.3304A= (p.Arg1102=) c.*3018A= (n.*3018A=) c.3121A= (p.Arg1041=) c.*1604A= (n.*1604A=) c.*3128A= (n.*3128A=) c.2878A= (p.Arg960=) c.52A= (p.Arg18=) c.895A= (p.Arg299=) c.954A= c.2086A= (p.Arg696=) c.3214A= (p.Arg1072=) c.129A= c.3394A= (p.Arg1132=) c.3061A= (p.Arg1021=) | dbSNP |