Chr Mutation (hg38) CAid Gene Transcript Linkouts
3g.184328682C>TCA2732988EIF2B5,EIF4G1c.4005C>T (p.His1335=)
c.3939C>T (p.His1313=)
c.3352C>T (n.3352C>T)
c.3408C>T (p.His1136=)
c.4008C>T (p.His1336=)
c.3513C>T (p.His1171=)
c.4026C>T (p.His1342=)
c.3744C>T (p.His1248=)
c.3888C>T (p.His1296=)
c.3885C>T (p.His1295=)
c.106C>T
c.3747C>T (p.His1249=)
c.3420C>T (p.His1140=)
c.3417C>T (p.His1139=)
c.3516C>T (p.His1172=)
c.*3444C>T (n.*3444C>T)
c.2106+183975C>T (n.2106+183975C>T)
n.566C>T
n.14C>T
n.67C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.184328682C>GCA355419346EIF2B5,EIF4G1c.4005C>G (p.His1335Gln)
c.3939C>G (p.His1313Gln)
c.3352C>G (n.3352C>G)
c.3408C>G (p.His1136Gln)
c.4008C>G (p.His1336Gln)
c.3513C>G (p.His1171Gln)
c.4026C>G (p.His1342Gln)
c.3744C>G (p.His1248Gln)
c.3888C>G (p.His1296Gln)
c.3885C>G (p.His1295Gln)
c.106C>G
c.3747C>G (p.His1249Gln)
c.3420C>G (p.His1140Gln)
c.3417C>G (p.His1139Gln)
c.3516C>G (p.His1172Gln)
c.*3444C>G (n.*3444C>G)
c.2106+183975C>G (n.2106+183975C>G)
n.566C>G
n.14C>G
n.67C>G
 dbSNP
3g.184328682C=CA1425959701EIF2B5,EIF4G1c.4005C= (p.His1335=)
c.3939C= (p.His1313=)
c.3352C= (n.3352C=)
c.3408C= (p.His1136=)
c.4008C= (p.His1336=)
c.3513C= (p.His1171=)
c.4026C= (p.His1342=)
c.3744C= (p.His1248=)
c.3888C= (p.His1296=)
c.3885C= (p.His1295=)
c.106C=
c.3747C= (p.His1249=)
c.3420C= (p.His1140=)
c.3417C= (p.His1139=)
c.3516C= (p.His1172=)
c.*3444C= (n.*3444C=)
c.2106+183975C= (n.2106+183975C=)
n.566C=
n.14C=
n.67C=
 dbSNP
3g.184328682C>ACA355419345EIF2B5,EIF4G1c.4005C>A (p.His1335Gln)
c.3939C>A (p.His1313Gln)
c.3352C>A (n.3352C>A)
c.3408C>A (p.His1136Gln)
c.4008C>A (p.His1336Gln)
c.3513C>A (p.His1171Gln)
c.4026C>A (p.His1342Gln)
c.3744C>A (p.His1248Gln)
c.3888C>A (p.His1296Gln)
c.3885C>A (p.His1295Gln)
c.106C>A
c.3747C>A (p.His1249Gln)
c.3420C>A (p.His1140Gln)
c.3417C>A (p.His1139Gln)
c.3516C>A (p.His1172Gln)
c.*3444C>A (n.*3444C>A)
c.2106+183975C>A (n.2106+183975C>A)
n.566C>A
n.14C>A
n.67C>A
 dbSNP gnomAD v4

Number of alleles fetched