Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
14	g.75009042G>A	CA390430007	EIF2B2	c.910G>A (p.Glu304Lys) n.490G>A	dbSNP
14	g.75009042G>C	CA390430010	EIF2B2	c.910G>C (p.Glu304Gln) n.490G>C
14	g.75009042G=	CA2147300720	EIF2B2	c.910G= (p.Glu304=) n.490G=
14	g.75009042G>T	CA263656848	EIF2B2	c.910G>T (p.Glu304Ter) n.490G>T	ClinVar dbSNP gnomAD v3 gnomAD v4
14	g.75009042_75009045delinsGAGA	CA2147300721	EIF2B2	c.910_913delinsGAGA (p.Glu304=) n.490_493delinsGAGA
14	g.75009043A>C	CA390430015	EIF2B2	c.911A>C (p.Glu304Ala) n.491A>C
14	g.75009043A>G	CA390430018	EIF2B2	c.911A>G (p.Glu304Gly) n.491A>G
14	g.75009043A>T	CA390430021	EIF2B2	c.911A>T (p.Glu304Val) n.491A>T
14	g.75009045_75009047del	CA7275109	EIF2B2	c.913_915del (p.Lys305del) n.493_495del	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14	g.75009044G>A	CA487178820	EIF2B2	c.912G>A (p.Glu304=) n.492G>A	dbSNP gnomAD v3 gnomAD v4
14	g.75009044G>C	CA390430025	EIF2B2	c.912G>C (p.Glu304Asp) n.492G>C
14	g.75009044G=	CA2147300722	EIF2B2	c.912G= (p.Glu304=) n.492G=
14	g.75009044G>T	CA390430023	EIF2B2	c.912G>T (p.Glu304Asp) n.492G>T	gnomAD v4
14	g.75009045A>C	CA390430029	EIF2B2	c.913A>C (p.Lys305Gln) n.493A>C
14	g.75009045A>G	CA390430031	EIF2B2	c.913A>G (p.Lys305Glu) n.493A>G	gnomAD v4
14	g.75009045A>T	CA390430035	EIF2B2	c.913A>T (p.Lys305Ter) n.493A>T
14	g.75009046A>C	CA390430038	EIF2B2	c.914A>C (p.Lys305Thr) n.494A>C
14	g.75009046A>G	CA390430040	EIF2B2	c.914A>G (p.Lys305Arg) n.494A>G
14	g.75009046A>T	CA390430042	EIF2B2	c.914A>T (p.Lys305Met) n.494A>T
14	g.75009047G>A	CA487178821	EIF2B2	c.915G>A (p.Lys305=) n.495G>A	dbSNP gnomAD v3 gnomAD v4
14	g.75009047G>C	CA390430045	EIF2B2	c.915G>C (p.Lys305Asn) n.495G>C
14	g.75009047G=	CA2147300723	EIF2B2	c.915G= (p.Lys305=) n.495G=
14	g.75009047G>T	CA390430048	EIF2B2	c.915G>T (p.Lys305Asn) n.495G>T	dbSNP gnomAD v2 gnomAD v4
14	g.75009048G>A	CA390430051	EIF2B2	c.916G>A (p.Val306Ile) n.496G>A
14	g.75009048G>C	CA390430053	EIF2B2	c.916G>C (p.Val306Leu) n.496G>C
14	g.75009048G>T	CA390430065	EIF2B2	c.916G>T (p.Val306Phe) n.496G>T
14	g.75009049T>A	CA390430067	EIF2B2	c.917T>A (p.Val306Asp) n.497T>A
14	g.75009049T>C	CA390430072	EIF2B2	c.917T>C (p.Val306Ala) n.497T>C	gnomAD v4
14	g.75009049T>G	CA390430068	EIF2B2	c.917T>G (p.Val306Gly) n.497T>G
14	g.75009050C>A	CA487178822	EIF2B2	c.918C>A (p.Val306=) n.498C>A
14	g.75009050C>G	CA487178824	EIF2B2	c.918C>G (p.Val306=) n.498C>G
14	g.75009050C>T	CA487178823	EIF2B2	c.918C>T (p.Val306=) n.498C>T
14	g.75009051A>C	CA390430074	EIF2B2	c.919A>C (p.Ser307Arg) n.499A>C
14	g.75009051A>G	CA390430077	EIF2B2	c.919A>G (p.Ser307Gly) n.499A>G
14	g.75009051A>T	CA390430083	EIF2B2	c.919A>T (p.Ser307Cys) n.499A>T
14	g.75009052G>A	CA390430084	EIF2B2	c.920G>A (p.Ser307Asn) n.500G>A
14	g.75009052G>C	CA390430088	EIF2B2	c.920G>C (p.Ser307Thr) n.500G>C	dbSNP gnomAD v2 gnomAD v4
14	g.75009052G=	CA2147300724	EIF2B2	c.920G= (p.Ser307=) n.500G=
14	g.75009052G>T	CA390430091	EIF2B2	c.920G>T (p.Ser307Ile) n.500G>T
14	g.75009053C>A	CA263656853	EIF2B2	c.921C>A (p.Ser307Arg) n.501C>A	dbSNP
14	g.75009053C=	CA2147300725	EIF2B2	c.921C= (p.Ser307=) n.501C=
14	g.75009053C>G	CA390430094	EIF2B2	c.921C>G (p.Ser307Arg) n.501C>G
14	g.75009053C>T	CA7275110	EIF2B2	c.921C>T (p.Ser307=) n.501C>T	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14	g.75009054G>A	CA7275111	EIF2B2	c.922G>A (p.Val308Met) n.502G>A	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
14	g.75009054G>C	CA263656859	EIF2B2	c.922G>C (p.Val308Leu) n.502G>C	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14	g.75009054G=	CA2147300726	EIF2B2	c.922G= (p.Val308=) n.502G=
14	g.75009054G>T	CA390430099	EIF2B2	c.922G>T (p.Val308Leu) n.502G>T	ClinVar dbSNP
14	g.75009055T>A	CA390430106	EIF2B2	c.923T>A (p.Val308Glu) n.503T>A
14	g.75009055T>C	CA390430108	EIF2B2	c.923T>C (p.Val308Ala) n.503T>C
14	g.75009055T>G	CA390430109	EIF2B2	c.923T>G (p.Val308Gly) n.503T>G

Number of alleles fetched