Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
14 | g.75007761C>T | CA263656096 | EIF2B2 | c.871C>T (p.Pro291Ser) c.869C>T (n.869C>T) n.451C>T | ClinVar dbSNP gnomAD v4 |
14 | g.75007761C= | CA2147300226 | EIF2B2 | c.871C= (p.Pro291=) c.869C= (n.869C=) n.451C= | dbSNP |