| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.113729393C>G | CA5696501 | CASP7 | c.765C>G (p.Asp255Glu) c.762C>G (p.Asp254Glu) c.1020C>G (p.Asp340Glu) c.731C>G (p.Thr244Ser) c.690C>G (p.Asp230Glu) n.689C>G c.864C>G (p.Asp288Glu) c.807C>G (p.Asp269Glu) c.789C>G (p.Asp263Glu) c.666C>G (p.Asp222Glu) c.822C>G (p.Asp274Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.113729393C>T | CA378425962 | CASP7 | c.765C>T (p.Asp255=) c.762C>T (p.Asp254=) c.1020C>T (p.Asp340=) c.731C>T (p.Thr244Ile) c.690C>T (p.Asp230=) n.689C>T c.864C>T (p.Asp288=) c.807C>T (p.Asp269=) c.789C>T (p.Asp263=) c.666C>T (p.Asp222=) c.822C>T (p.Asp274=) | dbSNP |
| 10 | g.113729393C= | CA1937490543 | CASP7 | c.765C= (p.Asp255=) c.762C= (p.Asp254=) c.1020C= (p.Asp340=) c.731C= (p.Thr244=) c.690C= (p.Asp230=) n.689C= c.864C= (p.Asp288=) c.807C= (p.Asp269=) c.789C= (p.Asp263=) c.666C= (p.Asp222=) c.822C= (p.Asp274=) | dbSNP |