Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
7 | g.117611635T>C | CA325596 | CFTR | c.3194T>C (p.Leu1065Pro) c.*2908T>C (n.*2908T>C) c.3011T>C (p.Leu1004Pro) c.*1494T>C (n.*1494T>C) c.*3018T>C (n.*3018T>C) c.2768T>C (p.Leu923Pro) c.785T>C (p.Leu262Pro) c.844T>C c.1976T>C (p.Leu659Pro) c.3104T>C (p.Leu1035Pro) c.19T>C c.3284T>C (p.Leu1095Pro) c.2951T>C (p.Leu984Pro) | ClinVar dbSNP gnomAD v4 |
7 | g.117611635T>G | CA327084 | CFTR | c.3194T>G (p.Leu1065Arg) c.*2908T>G (n.*2908T>G) c.3011T>G (p.Leu1004Arg) c.*1494T>G (n.*1494T>G) c.*3018T>G (n.*3018T>G) c.2768T>G (p.Leu923Arg) c.785T>G (p.Leu262Arg) c.844T>G c.1976T>G (p.Leu659Arg) c.3104T>G (p.Leu1035Arg) c.19T>G c.3284T>G (p.Leu1095Arg) c.2951T>G (p.Leu984Arg) | ClinVar dbSNP |