| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.15681274G>A | CA170676 | EPS8 | c.88C>T (p.Gln30Ter) c.59+1619C>T (n.59+1619C>T) c.121C>T (p.Gln41Ter) c.148C>T (p.Gln50Ter) | ClinVar dbSNP gnomAD v4 |
| 12 | g.15681274G>C | CA384036392 | EPS8 | c.88C>G (p.Gln30Glu) c.59+1619C>G (n.59+1619C>G) c.121C>G (p.Gln41Glu) c.148C>G (p.Gln50Glu) | dbSNP gnomAD v4 |
| 12 | g.15681274G= | CA2018333741 | EPS8 | c.88C= (p.Gln30=) c.59+1619C= (n.59+1619C=) c.121C= (p.Gln41=) c.148C= (p.Gln50=) | dbSNP |