| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.68885620A>C | CA115165 | STOX1 | c.1824A>C (p.Glu608Asp) c.2160A>C (p.Glu720Asp) c.463+3510A>C (n.463+3510A>C) c.663+1161A>C (n.663+1161A>C) c.1494A>C (p.Glu498Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.68885620A>T | CA376881912 | STOX1 | c.1824A>T (p.Glu608Asp) c.2160A>T (p.Glu720Asp) c.463+3510A>T (n.463+3510A>T) c.663+1161A>T (n.663+1161A>T) c.1494A>T (p.Glu498Asp) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.68885620A= | CA1917550060 | STOX1 | c.1824A= (p.Glu608=) c.2160A= (p.Glu720=) c.463+3510A= (n.463+3510A=) c.663+1161A= (n.663+1161A=) c.1494A= (p.Glu498=) | dbSNP |