| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.105029761G>A | CA6257471 | CASP1 | c.703C>T (p.Leu235=) c.324C>T c.*254C>T (n.*254C>T) c.649C>T (p.Leu217=) c.*476C>T (n.*476C>T) c.766C>T (p.Leu256=) c.59-2810C>T (n.59-2810C>T) c.487C>T (p.Leu163=) c.655C>T (p.Leu219=) c.313C>T (p.Leu105=) c.898C>T (p.Leu300=) c.835C>T (p.Leu279=) c.757C>T (p.Leu253=) c.694C>T (p.Leu232=) c.676C>T (p.Leu226=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.105029761G= | CA1997273036 | CASP1 | c.703C= (p.Leu235=) c.324C= c.*254C= (n.*254C=) c.649C= (p.Leu217=) c.*476C= (n.*476C=) c.766C= (p.Leu256=) c.59-2810C= (n.59-2810C=) c.487C= (p.Leu163=) c.655C= (p.Leu219=) c.313C= (p.Leu105=) c.898C= (p.Leu300=) c.835C= (p.Leu279=) c.757C= (p.Leu253=) c.694C= (p.Leu232=) c.676C= (p.Leu226=) | dbSNP |