| 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 |
| 7 | g.117611635T= | CA1737386915 | CFTR | c.3194T= (p.Leu1065=) c.*2908T= (n.*2908T=) c.3011T= (p.Leu1004=) c.*1494T= (n.*1494T=) c.*3018T= (n.*3018T=) c.2768T= (p.Leu923=) c.785T= (p.Leu262=) c.844T= c.1976T= (p.Leu659=) c.3104T= (p.Leu1035=) c.19T= c.3284T= (p.Leu1095=) c.2951T= (p.Leu984=) | dbSNP |