| 14 | g.75004851del | CA7274971 | EIF2B2 | c.548del (p.Arg183GlnfsTer9)
c.521del (p.Arg174GlnfsTer9)
n.843del
n.606del
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.75004851G= | CA2147299048 | EIF2B2 | c.548G= (p.Arg183=)
c.521G= (p.Arg174=)
n.843G=
n.606G=
| dbSNP dbSNP |
