Chr Mutation (hg38) CAid Gene Transcript Linkouts
3g.184327401G>TCA355415284EIF2B5,EIF4G1c.3614G>T (p.Arg1205Leu)
c.3548G>T (p.Arg1183Leu)
c.2961G>T (n.2961G>T)
c.3017G>T (p.Arg1006Leu)
c.3617G>T (p.Arg1206Leu)
c.3122G>T (p.Arg1041Leu)
c.3635G>T (p.Arg1212Leu)
c.3353G>T (p.Arg1118Leu)
c.3497G>T (p.Arg1166Leu)
c.3494G>T (p.Arg1165Leu)
c.3356G>T (p.Arg1119Leu)
c.3029G>T (p.Arg1010Leu)
c.3026G>T (p.Arg1009Leu)
c.3125G>T (p.Arg1042Leu)
c.*3053G>T (n.*3053G>T)
c.2106+182694G>T (n.2106+182694G>T)
n.116G>T
dbSNP gnomAD v4
3g.184327401G>ACA128909EIF2B5,EIF4G1c.3614G>A (p.Arg1205His)
c.3548G>A (p.Arg1183His)
c.2961G>A (n.2961G>A)
c.3017G>A (p.Arg1006His)
c.3617G>A (p.Arg1206His)
c.3122G>A (p.Arg1041His)
c.3635G>A (p.Arg1212His)
c.3353G>A (p.Arg1118His)
c.3497G>A (p.Arg1166His)
c.3494G>A (p.Arg1165His)
c.3356G>A (p.Arg1119His)
c.3029G>A (p.Arg1010His)
c.3026G>A (p.Arg1009His)
c.3125G>A (p.Arg1042His)
c.*3053G>A (n.*3053G>A)
c.2106+182694G>A (n.2106+182694G>A)
n.116G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched