| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.113697505T>G | CA5696196 | CASP7 | c.12T>G (p.Asp4Glu) c.236T>G (p.Ile79Ser) c.111T>G (p.Asp37Glu) c.23T>G (p.Ile8Ser) c.5T>G (p.Ile2Ser) c.69T>G (p.Asp23Glu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.113697505T>C | CA378416240 | CASP7 | c.12T>C (p.Asp4=) c.236T>C (p.Ile79Thr) c.111T>C (p.Asp37=) c.23T>C (p.Ile8Thr) c.5T>C (p.Ile2Thr) c.69T>C (p.Asp23=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.113697505T= | CA1937479365 | CASP7 | c.12T= (p.Asp4=) c.236T= (p.Ile79=) c.111T= (p.Asp37=) c.23T= (p.Ile8=) c.5T= (p.Ile2=) c.69T= (p.Asp23=) | dbSNP |