| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.117611637C>A | CA327085 | CFTR | c.3196C>A (p.Arg1066Ser) c.*2910C>A (n.*2910C>A) c.3013C>A (p.Arg1005Ser) c.*1496C>A (n.*1496C>A) c.*3020C>A (n.*3020C>A) c.2770C>A (p.Arg924Ser) c.787C>A (p.Arg263Ser) c.846C>A c.1978C>A (p.Arg660Ser) c.3106C>A (p.Arg1036Ser) c.21C>A c.3286C>A (p.Arg1096Ser) c.2953C>A (p.Arg985Ser) | ClinVar dbSNP |
| 7 | g.117611637C>T | CA325558 | CFTR | c.3196C>T (p.Arg1066Cys) c.*2910C>T (n.*2910C>T) c.3013C>T (p.Arg1005Cys) c.*1496C>T (n.*1496C>T) c.*3020C>T (n.*3020C>T) c.2770C>T (p.Arg924Cys) c.787C>T (p.Arg263Cys) c.846C>T c.1978C>T (p.Arg660Cys) c.3106C>T (p.Arg1036Cys) c.21C>T c.3286C>T (p.Arg1096Cys) c.2953C>T (p.Arg985Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |