| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.95844582G>A | CA5621417 | ENTPD1,ENTPD1-AS1 | c.520G>A (p.Glu174Lys) c.369G>A (p.Arg123=) n.505G>A c.556G>A (p.Glu186Lys) n.8G>A c.541G>A (p.Glu181Lys) c.117G>A (p.Arg39=) n.503G>A c.106G>A (p.Glu36Lys) c.196G>A (p.Glu66Lys) c.*95G>A (n.*95G>A) n.373G>A n.533+2810C>T c.577G>A (p.Glu193Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.95844582G>T | CA214471 | ENTPD1,ENTPD1-AS1 | c.520G>T (p.Glu174Ter) c.369G>T (p.Arg123Ser) n.505G>T c.556G>T (p.Glu186Ter) n.8G>T c.541G>T (p.Glu181Ter) c.117G>T (p.Arg39Ser) n.503G>T c.106G>T (p.Glu36Ter) c.196G>T (p.Glu66Ter) c.*95G>T (n.*95G>T) n.373G>T n.533+2810C>A c.577G>T (p.Glu193Ter) | ClinVar dbSNP |