Chr Mutation (hg38) CAid Gene Transcript Linkouts
3g.184327562C=CA1425958572EIF2B5,EIF4G1c.3662-24C= (n.3662-24C=)
c.3596-24C= (n.3596-24C=)
c.3009-24C= (n.3009-24C=)
c.3065-24C= (n.3065-24C=)
c.3665-24C= (n.3665-24C=)
c.3170-24C= (n.3170-24C=)
c.3683-24C= (n.3683-24C=)
c.3401-24C= (n.3401-24C=)
c.3545-24C= (n.3545-24C=)
c.3542-24C= (n.3542-24C=)
c.3404-24C= (n.3404-24C=)
c.3077-24C= (n.3077-24C=)
c.3074-24C= (n.3074-24C=)
c.3173-24C= (n.3173-24C=)
c.*3101-24C= (n.*3101-24C=)
c.2106+182855C= (n.2106+182855C=)
n.164-24C=
3g.184327562C>TCA88867811EIF2B5,EIF4G1c.3662-24C>T (n.3662-24C>T)
c.3596-24C>T (n.3596-24C>T)
c.3009-24C>T (n.3009-24C>T)
c.3065-24C>T (n.3065-24C>T)
c.3665-24C>T (n.3665-24C>T)
c.3170-24C>T (n.3170-24C>T)
c.3683-24C>T (n.3683-24C>T)
c.3401-24C>T (n.3401-24C>T)
c.3545-24C>T (n.3545-24C>T)
c.3542-24C>T (n.3542-24C>T)
c.3404-24C>T (n.3404-24C>T)
c.3077-24C>T (n.3077-24C>T)
c.3074-24C>T (n.3074-24C>T)
c.3173-24C>T (n.3173-24C>T)
c.*3101-24C>T (n.*3101-24C>T)
c.2106+182855C>T (n.2106+182855C>T)
n.164-24C>T
 dbSNP gnomAD v4
3g.184327564A=CA1425958573EIF2B5,EIF4G1c.3662-22A= (n.3662-22A=)
c.3596-22A= (n.3596-22A=)
c.3009-22A= (n.3009-22A=)
c.3065-22A= (n.3065-22A=)
c.3665-22A= (n.3665-22A=)
c.3170-22A= (n.3170-22A=)
c.3683-22A= (n.3683-22A=)
c.3401-22A= (n.3401-22A=)
c.3545-22A= (n.3545-22A=)
c.3542-22A= (n.3542-22A=)
c.3404-22A= (n.3404-22A=)
c.3077-22A= (n.3077-22A=)
c.3074-22A= (n.3074-22A=)
c.3173-22A= (n.3173-22A=)
c.*3101-22A= (n.*3101-22A=)
c.2106+182857A= (n.2106+182857A=)
n.164-22A=
3g.184327564A>CCA548795631EIF2B5,EIF4G1c.3662-22A>C (n.3662-22A>C)
c.3596-22A>C (n.3596-22A>C)
c.3009-22A>C (n.3009-22A>C)
c.3065-22A>C (n.3065-22A>C)
c.3665-22A>C (n.3665-22A>C)
c.3170-22A>C (n.3170-22A>C)
c.3683-22A>C (n.3683-22A>C)
c.3401-22A>C (n.3401-22A>C)
c.3545-22A>C (n.3545-22A>C)
c.3542-22A>C (n.3542-22A>C)
c.3404-22A>C (n.3404-22A>C)
c.3077-22A>C (n.3077-22A>C)
c.3074-22A>C (n.3074-22A>C)
c.3173-22A>C (n.3173-22A>C)
c.*3101-22A>C (n.*3101-22A>C)
c.2106+182857A>C (n.2106+182857A>C)
n.164-22A>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.184327566T>ACA1425958575EIF2B5,EIF4G1c.3662-20T>A (n.3662-20T>A)
c.3596-20T>A (n.3596-20T>A)
c.3009-20T>A (n.3009-20T>A)
c.3065-20T>A (n.3065-20T>A)
c.3665-20T>A (n.3665-20T>A)
c.3170-20T>A (n.3170-20T>A)
c.3683-20T>A (n.3683-20T>A)
c.3401-20T>A (n.3401-20T>A)
c.3545-20T>A (n.3545-20T>A)
c.3542-20T>A (n.3542-20T>A)
c.3404-20T>A (n.3404-20T>A)
c.3077-20T>A (n.3077-20T>A)
c.3074-20T>A (n.3074-20T>A)
c.3173-20T>A (n.3173-20T>A)
c.*3101-20T>A (n.*3101-20T>A)
c.2106+182859T>A (n.2106+182859T>A)
n.164-20T>A
 dbSNP
3g.184327566T=CA1425958574EIF2B5,EIF4G1c.3662-20T= (n.3662-20T=)
c.3596-20T= (n.3596-20T=)
c.3009-20T= (n.3009-20T=)
c.3065-20T= (n.3065-20T=)
c.3665-20T= (n.3665-20T=)
c.3170-20T= (n.3170-20T=)
c.3683-20T= (n.3683-20T=)
c.3401-20T= (n.3401-20T=)
c.3545-20T= (n.3545-20T=)
c.3542-20T= (n.3542-20T=)
c.3404-20T= (n.3404-20T=)
c.3077-20T= (n.3077-20T=)
c.3074-20T= (n.3074-20T=)
c.3173-20T= (n.3173-20T=)
c.*3101-20T= (n.*3101-20T=)
c.2106+182859T= (n.2106+182859T=)
n.164-20T=
3g.184327567C=CA1425958577EIF2B5,EIF4G1c.3662-19C= (n.3662-19C=)
c.3596-19C= (n.3596-19C=)
c.3009-19C= (n.3009-19C=)
c.3065-19C= (n.3065-19C=)
c.3665-19C= (n.3665-19C=)
c.3170-19C= (n.3170-19C=)
c.3683-19C= (n.3683-19C=)
c.3401-19C= (n.3401-19C=)
c.3545-19C= (n.3545-19C=)
c.3542-19C= (n.3542-19C=)
c.3404-19C= (n.3404-19C=)
c.3077-19C= (n.3077-19C=)
c.3074-19C= (n.3074-19C=)
c.3173-19C= (n.3173-19C=)
c.*3101-19C= (n.*3101-19C=)
c.2106+182860C= (n.2106+182860C=)
n.164-19C=
3g.184327567C>GCA1057223853EIF2B5,EIF4G1c.3662-19C>G (n.3662-19C>G)
c.3596-19C>G (n.3596-19C>G)
c.3009-19C>G (n.3009-19C>G)
c.3065-19C>G (n.3065-19C>G)
c.3665-19C>G (n.3665-19C>G)
c.3170-19C>G (n.3170-19C>G)
c.3683-19C>G (n.3683-19C>G)
c.3401-19C>G (n.3401-19C>G)
c.3545-19C>G (n.3545-19C>G)
c.3542-19C>G (n.3542-19C>G)
c.3404-19C>G (n.3404-19C>G)
c.3077-19C>G (n.3077-19C>G)
c.3074-19C>G (n.3074-19C>G)
c.3173-19C>G (n.3173-19C>G)
c.*3101-19C>G (n.*3101-19C>G)
c.2106+182860C>G (n.2106+182860C>G)
n.164-19C>G
 dbSNP gnomAD v3 gnomAD v4
3g.184327567C>TCA2668841251EIF2B5,EIF4G1c.3662-19C>T (n.3662-19C>T)
c.3596-19C>T (n.3596-19C>T)
c.3009-19C>T (n.3009-19C>T)
c.3065-19C>T (n.3065-19C>T)
c.3665-19C>T (n.3665-19C>T)
c.3170-19C>T (n.3170-19C>T)
c.3683-19C>T (n.3683-19C>T)
c.3401-19C>T (n.3401-19C>T)
c.3545-19C>T (n.3545-19C>T)
c.3542-19C>T (n.3542-19C>T)
c.3404-19C>T (n.3404-19C>T)
c.3077-19C>T (n.3077-19C>T)
c.3074-19C>T (n.3074-19C>T)
c.3173-19C>T (n.3173-19C>T)
c.*3101-19C>T (n.*3101-19C>T)
c.2106+182860C>T (n.2106+182860C>T)
n.164-19C>T
 gnomAD v4
3g.184327567_184327569delinsCTGCA1425958576EIF2B5,EIF4G1c.3662-19_3662-17delinsCTG (n.3662-19_3662-17delinsCTG)
c.3596-19_3596-17delinsCTG (n.3596-19_3596-17delinsCTG)
c.3009-19_3009-17delinsCTG (n.3009-19_3009-17delinsCTG)
c.3065-19_3065-17delinsCTG (n.3065-19_3065-17delinsCTG)
c.3665-19_3665-17delinsCTG (n.3665-19_3665-17delinsCTG)
c.3170-19_3170-17delinsCTG (n.3170-19_3170-17delinsCTG)
c.3683-19_3683-17delinsCTG (n.3683-19_3683-17delinsCTG)
c.3401-19_3401-17delinsCTG (n.3401-19_3401-17delinsCTG)
c.3545-19_3545-17delinsCTG (n.3545-19_3545-17delinsCTG)
c.3542-19_3542-17delinsCTG (n.3542-19_3542-17delinsCTG)
c.3404-19_3404-17delinsCTG (n.3404-19_3404-17delinsCTG)
c.3077-19_3077-17delinsCTG (n.3077-19_3077-17delinsCTG)
c.3074-19_3074-17delinsCTG (n.3074-19_3074-17delinsCTG)
c.3173-19_3173-17delinsCTG (n.3173-19_3173-17delinsCTG)
c.*3101-19_*3101-17delinsCTG (n.*3101-19_*3101-17delinsCTG)
c.2106+182860_2106+182862delinsCTG (n.2106+182860_2106+182862delinsCTG)
n.164-19_164-17delinsCTG
3g.184327568T>ACA1425958578EIF2B5,EIF4G1c.3662-18T>A (n.3662-18T>A)
c.3596-18T>A (n.3596-18T>A)
c.3009-18T>A (n.3009-18T>A)
c.3065-18T>A (n.3065-18T>A)
c.3665-18T>A (n.3665-18T>A)
c.3170-18T>A (n.3170-18T>A)
c.3683-18T>A (n.3683-18T>A)
c.3401-18T>A (n.3401-18T>A)
c.3545-18T>A (n.3545-18T>A)
c.3542-18T>A (n.3542-18T>A)
c.3404-18T>A (n.3404-18T>A)
c.3077-18T>A (n.3077-18T>A)
c.3074-18T>A (n.3074-18T>A)
c.3173-18T>A (n.3173-18T>A)
c.*3101-18T>A (n.*3101-18T>A)
c.2106+182861T>A (n.2106+182861T>A)
n.164-18T>A
 dbSNP
3g.184327568T=CA1425958579EIF2B5,EIF4G1c.3662-18T= (n.3662-18T=)
c.3596-18T= (n.3596-18T=)
c.3009-18T= (n.3009-18T=)
c.3065-18T= (n.3065-18T=)
c.3665-18T= (n.3665-18T=)
c.3170-18T= (n.3170-18T=)
c.3683-18T= (n.3683-18T=)
c.3401-18T= (n.3401-18T=)
c.3545-18T= (n.3545-18T=)
c.3542-18T= (n.3542-18T=)
c.3404-18T= (n.3404-18T=)
c.3077-18T= (n.3077-18T=)
c.3074-18T= (n.3074-18T=)
c.3173-18T= (n.3173-18T=)
c.*3101-18T= (n.*3101-18T=)
c.2106+182861T= (n.2106+182861T=)
n.164-18T=
3g.184327571_184327572delCA2732883EIF2B5,EIF4G1c.3662-15_3662-14del (n.3662-15_3662-14del)
c.3596-15_3596-14del (n.3596-15_3596-14del)
c.3009-15_3009-14del (n.3009-15_3009-14del)
c.3065-15_3065-14del (n.3065-15_3065-14del)
c.3665-15_3665-14del (n.3665-15_3665-14del)
c.3170-15_3170-14del (n.3170-15_3170-14del)
c.3683-15_3683-14del (n.3683-15_3683-14del)
c.3401-15_3401-14del (n.3401-15_3401-14del)
c.3545-15_3545-14del (n.3545-15_3545-14del)
c.3542-15_3542-14del (n.3542-15_3542-14del)
c.3404-15_3404-14del (n.3404-15_3404-14del)
c.3077-15_3077-14del (n.3077-15_3077-14del)
c.3074-15_3074-14del (n.3074-15_3074-14del)
c.3173-15_3173-14del (n.3173-15_3173-14del)
c.*3101-15_*3101-14del (n.*3101-15_*3101-14del)
c.2106+182864_2106+182865del (n.2106+182864_2106+182865del)
n.164-15_164-14del
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.184327569G>CCA2732884EIF2B5,EIF4G1c.3662-17G>C (n.3662-17G>C)
c.3596-17G>C (n.3596-17G>C)
c.3009-17G>C (n.3009-17G>C)
c.3065-17G>C (n.3065-17G>C)
c.3665-17G>C (n.3665-17G>C)
c.3170-17G>C (n.3170-17G>C)
c.3683-17G>C (n.3683-17G>C)
c.3401-17G>C (n.3401-17G>C)
c.3545-17G>C (n.3545-17G>C)
c.3542-17G>C (n.3542-17G>C)
c.3404-17G>C (n.3404-17G>C)
c.3077-17G>C (n.3077-17G>C)
c.3074-17G>C (n.3074-17G>C)
c.3173-17G>C (n.3173-17G>C)
c.*3101-17G>C (n.*3101-17G>C)
c.2106+182862G>C (n.2106+182862G>C)
n.164-17G>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.184327569G=CA1425958580EIF2B5,EIF4G1c.3662-17G= (n.3662-17G=)
c.3596-17G= (n.3596-17G=)
c.3009-17G= (n.3009-17G=)
c.3065-17G= (n.3065-17G=)
c.3665-17G= (n.3665-17G=)
c.3170-17G= (n.3170-17G=)
c.3683-17G= (n.3683-17G=)
c.3401-17G= (n.3401-17G=)
c.3545-17G= (n.3545-17G=)
c.3542-17G= (n.3542-17G=)
c.3404-17G= (n.3404-17G=)
c.3077-17G= (n.3077-17G=)
c.3074-17G= (n.3074-17G=)
c.3173-17G= (n.3173-17G=)
c.*3101-17G= (n.*3101-17G=)
c.2106+182862G= (n.2106+182862G=)
n.164-17G=
3g.184327570T>ACA1425958582EIF2B5,EIF4G1c.3662-16T>A (n.3662-16T>A)
c.3596-16T>A (n.3596-16T>A)
c.3009-16T>A (n.3009-16T>A)
c.3065-16T>A (n.3065-16T>A)
c.3665-16T>A (n.3665-16T>A)
c.3170-16T>A (n.3170-16T>A)
c.3683-16T>A (n.3683-16T>A)
c.3401-16T>A (n.3401-16T>A)
c.3545-16T>A (n.3545-16T>A)
c.3542-16T>A (n.3542-16T>A)
c.3404-16T>A (n.3404-16T>A)
c.3077-16T>A (n.3077-16T>A)
c.3074-16T>A (n.3074-16T>A)
c.3173-16T>A (n.3173-16T>A)
c.*3101-16T>A (n.*3101-16T>A)
c.2106+182863T>A (n.2106+182863T>A)
n.164-16T>A
 dbSNP
3g.184327570T=CA1425958581EIF2B5,EIF4G1c.3662-16T= (n.3662-16T=)
c.3596-16T= (n.3596-16T=)
c.3009-16T= (n.3009-16T=)
c.3065-16T= (n.3065-16T=)
c.3665-16T= (n.3665-16T=)
c.3170-16T= (n.3170-16T=)
c.3683-16T= (n.3683-16T=)
c.3401-16T= (n.3401-16T=)
c.3545-16T= (n.3545-16T=)
c.3542-16T= (n.3542-16T=)
c.3404-16T= (n.3404-16T=)
c.3077-16T= (n.3077-16T=)
c.3074-16T= (n.3074-16T=)
c.3173-16T= (n.3173-16T=)
c.*3101-16T= (n.*3101-16T=)
c.2106+182863T= (n.2106+182863T=)
n.164-16T=
3g.184327571G>ACA2577978184EIF2B5,EIF4G1c.3662-15G>A (n.3662-15G>A)
c.3596-15G>A (n.3596-15G>A)
c.3009-15G>A (n.3009-15G>A)
c.3065-15G>A (n.3065-15G>A)
c.3665-15G>A (n.3665-15G>A)
c.3170-15G>A (n.3170-15G>A)
c.3683-15G>A (n.3683-15G>A)
c.3401-15G>A (n.3401-15G>A)
c.3545-15G>A (n.3545-15G>A)
c.3542-15G>A (n.3542-15G>A)
c.3404-15G>A (n.3404-15G>A)
c.3077-15G>A (n.3077-15G>A)
c.3074-15G>A (n.3074-15G>A)
c.3173-15G>A (n.3173-15G>A)
c.*3101-15G>A (n.*3101-15G>A)
c.2106+182864G>A (n.2106+182864G>A)
n.164-15G>A
 gnomAD v4
3g.184327574C>ACA2668841263EIF2B5,EIF4G1c.3662-12C>A (n.3662-12C>A)
c.3596-12C>A (n.3596-12C>A)
c.3009-12C>A (n.3009-12C>A)
c.3065-12C>A (n.3065-12C>A)
c.3665-12C>A (n.3665-12C>A)
c.3170-12C>A (n.3170-12C>A)
c.3683-12C>A (n.3683-12C>A)
c.3401-12C>A (n.3401-12C>A)
c.3545-12C>A (n.3545-12C>A)
c.3542-12C>A (n.3542-12C>A)
c.3404-12C>A (n.3404-12C>A)
c.3077-12C>A (n.3077-12C>A)
c.3074-12C>A (n.3074-12C>A)
c.3173-12C>A (n.3173-12C>A)
c.*3101-12C>A (n.*3101-12C>A)
c.2106+182867C>A (n.2106+182867C>A)
n.164-12C>A
 gnomAD v4
3g.184327574C=CA1425958583EIF2B5,EIF4G1c.3662-12C= (n.3662-12C=)
c.3596-12C= (n.3596-12C=)
c.3009-12C= (n.3009-12C=)
c.3065-12C= (n.3065-12C=)
c.3665-12C= (n.3665-12C=)
c.3170-12C= (n.3170-12C=)
c.3683-12C= (n.3683-12C=)
c.3401-12C= (n.3401-12C=)
c.3545-12C= (n.3545-12C=)
c.3542-12C= (n.3542-12C=)
c.3404-12C= (n.3404-12C=)
c.3077-12C= (n.3077-12C=)
c.3074-12C= (n.3074-12C=)
c.3173-12C= (n.3173-12C=)
c.*3101-12C= (n.*3101-12C=)
c.2106+182867C= (n.2106+182867C=)
n.164-12C=
3g.184327574C>GCA2732885EIF2B5,EIF4G1c.3662-12C>G (n.3662-12C>G)
c.3596-12C>G (n.3596-12C>G)
c.3009-12C>G (n.3009-12C>G)
c.3065-12C>G (n.3065-12C>G)
c.3665-12C>G (n.3665-12C>G)
c.3170-12C>G (n.3170-12C>G)
c.3683-12C>G (n.3683-12C>G)
c.3401-12C>G (n.3401-12C>G)
c.3545-12C>G (n.3545-12C>G)
c.3542-12C>G (n.3542-12C>G)
c.3404-12C>G (n.3404-12C>G)
c.3077-12C>G (n.3077-12C>G)
c.3074-12C>G (n.3074-12C>G)
c.3173-12C>G (n.3173-12C>G)
c.*3101-12C>G (n.*3101-12C>G)
c.2106+182867C>G (n.2106+182867C>G)
n.164-12C>G
 dbSNP ExAC gnomAD v2
3g.184327574C>TCA903715017EIF2B5,EIF4G1c.3662-12C>T (n.3662-12C>T)
c.3596-12C>T (n.3596-12C>T)
c.3009-12C>T (n.3009-12C>T)
c.3065-12C>T (n.3065-12C>T)
c.3665-12C>T (n.3665-12C>T)
c.3170-12C>T (n.3170-12C>T)
c.3683-12C>T (n.3683-12C>T)
c.3401-12C>T (n.3401-12C>T)
c.3545-12C>T (n.3545-12C>T)
c.3542-12C>T (n.3542-12C>T)
c.3404-12C>T (n.3404-12C>T)
c.3077-12C>T (n.3077-12C>T)
c.3074-12C>T (n.3074-12C>T)
c.3173-12C>T (n.3173-12C>T)
c.*3101-12C>T (n.*3101-12C>T)
c.2106+182867C>T (n.2106+182867C>T)
n.164-12C>T
 dbSNP
3g.184327575T>GCA2668841269EIF2B5,EIF4G1c.3662-11T>G (n.3662-11T>G)
c.3596-11T>G (n.3596-11T>G)
c.3009-11T>G (n.3009-11T>G)
c.3065-11T>G (n.3065-11T>G)
c.3665-11T>G (n.3665-11T>G)
c.3170-11T>G (n.3170-11T>G)
c.3683-11T>G (n.3683-11T>G)
c.3401-11T>G (n.3401-11T>G)
c.3545-11T>G (n.3545-11T>G)
c.3542-11T>G (n.3542-11T>G)
c.3404-11T>G (n.3404-11T>G)
c.3077-11T>G (n.3077-11T>G)
c.3074-11T>G (n.3074-11T>G)
c.3173-11T>G (n.3173-11T>G)
c.*3101-11T>G (n.*3101-11T>G)
c.2106+182868T>G (n.2106+182868T>G)
n.164-11T>G
 gnomAD v4
3g.184327576C=CA1425958584EIF2B5,EIF4G1c.3662-10C= (n.3662-10C=)
c.3596-10C= (n.3596-10C=)
c.3009-10C= (n.3009-10C=)
c.3065-10C= (n.3065-10C=)
c.3665-10C= (n.3665-10C=)
c.3170-10C= (n.3170-10C=)
c.3683-10C= (n.3683-10C=)
c.3401-10C= (n.3401-10C=)
c.3545-10C= (n.3545-10C=)
c.3542-10C= (n.3542-10C=)
c.3404-10C= (n.3404-10C=)
c.3077-10C= (n.3077-10C=)
c.3074-10C= (n.3074-10C=)
c.3173-10C= (n.3173-10C=)
c.*3101-10C= (n.*3101-10C=)
c.2106+182869C= (n.2106+182869C=)
n.164-10C=
3g.184327576C>TCA2732886EIF2B5,EIF4G1c.3662-10C>T (n.3662-10C>T)
c.3596-10C>T (n.3596-10C>T)
c.3009-10C>T (n.3009-10C>T)
c.3065-10C>T (n.3065-10C>T)
c.3665-10C>T (n.3665-10C>T)
c.3170-10C>T (n.3170-10C>T)
c.3683-10C>T (n.3683-10C>T)
c.3401-10C>T (n.3401-10C>T)
c.3545-10C>T (n.3545-10C>T)
c.3542-10C>T (n.3542-10C>T)
c.3404-10C>T (n.3404-10C>T)
c.3077-10C>T (n.3077-10C>T)
c.3074-10C>T (n.3074-10C>T)
c.3173-10C>T (n.3173-10C>T)
c.*3101-10C>T (n.*3101-10C>T)
c.2106+182869C>T (n.2106+182869C>T)
n.164-10C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.184327578T>CCA2668841273EIF2B5,EIF4G1c.3662-8T>C (n.3662-8T>C)
c.3596-8T>C (n.3596-8T>C)
c.3009-8T>C (n.3009-8T>C)
c.3065-8T>C (n.3065-8T>C)
c.3665-8T>C (n.3665-8T>C)
c.3170-8T>C (n.3170-8T>C)
c.3683-8T>C (n.3683-8T>C)
c.3401-8T>C (n.3401-8T>C)
c.3545-8T>C (n.3545-8T>C)
c.3542-8T>C (n.3542-8T>C)
c.3404-8T>C (n.3404-8T>C)
c.3077-8T>C (n.3077-8T>C)
c.3074-8T>C (n.3074-8T>C)
c.3173-8T>C (n.3173-8T>C)
c.*3101-8T>C (n.*3101-8T>C)
c.2106+182871T>C (n.2106+182871T>C)
n.164-8T>C
 gnomAD v4
3g.184327579C>ACA2668841297EIF2B5,EIF4G1c.3662-7C>A (n.3662-7C>A)
c.3596-7C>A (n.3596-7C>A)
c.3009-7C>A (n.3009-7C>A)
c.3065-7C>A (n.3065-7C>A)
c.3665-7C>A (n.3665-7C>A)
c.3170-7C>A (n.3170-7C>A)
c.3683-7C>A (n.3683-7C>A)
c.3401-7C>A (n.3401-7C>A)
c.3545-7C>A (n.3545-7C>A)
c.3542-7C>A (n.3542-7C>A)
c.3404-7C>A (n.3404-7C>A)
c.3077-7C>A (n.3077-7C>A)
c.3074-7C>A (n.3074-7C>A)
c.3173-7C>A (n.3173-7C>A)
c.*3101-7C>A (n.*3101-7C>A)
c.2106+182872C>A (n.2106+182872C>A)
n.164-7C>A
 gnomAD v4
3g.184327579C>TCA2704833704EIF2B5,EIF4G1c.3662-7C>T (n.3662-7C>T)
c.3596-7C>T (n.3596-7C>T)
c.3009-7C>T (n.3009-7C>T)
c.3065-7C>T (n.3065-7C>T)
c.3665-7C>T (n.3665-7C>T)
c.3170-7C>T (n.3170-7C>T)
c.3683-7C>T (n.3683-7C>T)
c.3401-7C>T (n.3401-7C>T)
c.3545-7C>T (n.3545-7C>T)
c.3542-7C>T (n.3542-7C>T)
c.3404-7C>T (n.3404-7C>T)
c.3077-7C>T (n.3077-7C>T)
c.3074-7C>T (n.3074-7C>T)
c.3173-7C>T (n.3173-7C>T)
c.*3101-7C>T (n.*3101-7C>T)
c.2106+182872C>T (n.2106+182872C>T)
n.164-7C>T
 dbSNP
3g.184327581delCA2539695656EIF2B5,EIF4G1c.3662-5del (n.3662-5del)
c.3596-5del (n.3596-5del)
c.3009-5del (n.3009-5del)
c.3065-5del (n.3065-5del)
c.3665-5del (n.3665-5del)
c.3170-5del (n.3170-5del)
c.3683-5del (n.3683-5del)
c.3401-5del (n.3401-5del)
c.3545-5del (n.3545-5del)
c.3542-5del (n.3542-5del)
c.3404-5del (n.3404-5del)
c.3077-5del (n.3077-5del)
c.3074-5del (n.3074-5del)
c.3173-5del (n.3173-5del)
c.*3101-5del (n.*3101-5del)
c.2106+182874del (n.2106+182874del)
n.164-5del
3g.184327580C=CA1425958585EIF2B5,EIF4G1c.3662-6C= (n.3662-6C=)
c.3596-6C= (n.3596-6C=)
c.3009-6C= (n.3009-6C=)
c.3065-6C= (n.3065-6C=)
c.3665-6C= (n.3665-6C=)
c.3170-6C= (n.3170-6C=)
c.3683-6C= (n.3683-6C=)
c.3401-6C= (n.3401-6C=)
c.3545-6C= (n.3545-6C=)
c.3542-6C= (n.3542-6C=)
c.3404-6C= (n.3404-6C=)
c.3077-6C= (n.3077-6C=)
c.3074-6C= (n.3074-6C=)
c.3173-6C= (n.3173-6C=)
c.*3101-6C= (n.*3101-6C=)
c.2106+182873C= (n.2106+182873C=)
n.164-6C=
3g.184327580C>GCA1425958586EIF2B5,EIF4G1c.3662-6C>G (n.3662-6C>G)
c.3596-6C>G (n.3596-6C>G)
c.3009-6C>G (n.3009-6C>G)
c.3065-6C>G (n.3065-6C>G)
c.3665-6C>G (n.3665-6C>G)
c.3170-6C>G (n.3170-6C>G)
c.3683-6C>G (n.3683-6C>G)
c.3401-6C>G (n.3401-6C>G)
c.3545-6C>G (n.3545-6C>G)
c.3542-6C>G (n.3542-6C>G)
c.3404-6C>G (n.3404-6C>G)
c.3077-6C>G (n.3077-6C>G)
c.3074-6C>G (n.3074-6C>G)
c.3173-6C>G (n.3173-6C>G)
c.*3101-6C>G (n.*3101-6C>G)
c.2106+182873C>G (n.2106+182873C>G)
n.164-6C>G
 dbSNP gnomAD v4
3g.184327581C=CA1425958587EIF2B5,EIF4G1c.3662-5C= (n.3662-5C=)
c.3596-5C= (n.3596-5C=)
c.3009-5C= (n.3009-5C=)
c.3065-5C= (n.3065-5C=)
c.3665-5C= (n.3665-5C=)
c.3170-5C= (n.3170-5C=)
c.3683-5C= (n.3683-5C=)
c.3401-5C= (n.3401-5C=)
c.3545-5C= (n.3545-5C=)
c.3542-5C= (n.3542-5C=)
c.3404-5C= (n.3404-5C=)
c.3077-5C= (n.3077-5C=)
c.3074-5C= (n.3074-5C=)
c.3173-5C= (n.3173-5C=)
c.*3101-5C= (n.*3101-5C=)
c.2106+182874C= (n.2106+182874C=)
n.164-5C=
3g.184327581C>GCA2668841303EIF2B5,EIF4G1c.3662-5C>G (n.3662-5C>G)
c.3596-5C>G (n.3596-5C>G)
c.3009-5C>G (n.3009-5C>G)
c.3065-5C>G (n.3065-5C>G)
c.3665-5C>G (n.3665-5C>G)
c.3170-5C>G (n.3170-5C>G)
c.3683-5C>G (n.3683-5C>G)
c.3401-5C>G (n.3401-5C>G)
c.3545-5C>G (n.3545-5C>G)
c.3542-5C>G (n.3542-5C>G)
c.3404-5C>G (n.3404-5C>G)
c.3077-5C>G (n.3077-5C>G)
c.3074-5C>G (n.3074-5C>G)
c.3173-5C>G (n.3173-5C>G)
c.*3101-5C>G (n.*3101-5C>G)
c.2106+182874C>G (n.2106+182874C>G)
n.164-5C>G
 gnomAD v4
3g.184327581C>TCA88867830EIF2B5,EIF4G1c.3662-5C>T (n.3662-5C>T)
c.3596-5C>T (n.3596-5C>T)
c.3009-5C>T (n.3009-5C>T)
c.3065-5C>T (n.3065-5C>T)
c.3665-5C>T (n.3665-5C>T)
c.3170-5C>T (n.3170-5C>T)
c.3683-5C>T (n.3683-5C>T)
c.3401-5C>T (n.3401-5C>T)
c.3545-5C>T (n.3545-5C>T)
c.3542-5C>T (n.3542-5C>T)
c.3404-5C>T (n.3404-5C>T)
c.3077-5C>T (n.3077-5C>T)
c.3074-5C>T (n.3074-5C>T)
c.3173-5C>T (n.3173-5C>T)
c.*3101-5C>T (n.*3101-5C>T)
c.2106+182874C>T (n.2106+182874C>T)
n.164-5C>T
 dbSNP gnomAD v3 gnomAD v4
3g.184327582A=CA1425958588EIF2B5,EIF4G1c.3662-4A= (n.3662-4A=)
c.3596-4A= (n.3596-4A=)
c.3009-4A= (n.3009-4A=)
c.3065-4A= (n.3065-4A=)
c.3665-4A= (n.3665-4A=)
c.3170-4A= (n.3170-4A=)
c.3683-4A= (n.3683-4A=)
c.3401-4A= (n.3401-4A=)
c.3545-4A= (n.3545-4A=)
c.3542-4A= (n.3542-4A=)
c.3404-4A= (n.3404-4A=)
c.3077-4A= (n.3077-4A=)
c.3074-4A= (n.3074-4A=)
c.3173-4A= (n.3173-4A=)
c.*3101-4A= (n.*3101-4A=)
c.2106+182875A= (n.2106+182875A=)
n.164-4A=
3g.184327582A>GCA1057223870EIF2B5,EIF4G1c.3662-4A>G (n.3662-4A>G)
c.3596-4A>G (n.3596-4A>G)
c.3009-4A>G (n.3009-4A>G)
c.3065-4A>G (n.3065-4A>G)
c.3665-4A>G (n.3665-4A>G)
c.3170-4A>G (n.3170-4A>G)
c.3683-4A>G (n.3683-4A>G)
c.3401-4A>G (n.3401-4A>G)
c.3545-4A>G (n.3545-4A>G)
c.3542-4A>G (n.3542-4A>G)
c.3404-4A>G (n.3404-4A>G)
c.3077-4A>G (n.3077-4A>G)
c.3074-4A>G (n.3074-4A>G)
c.3173-4A>G (n.3173-4A>G)
c.*3101-4A>G (n.*3101-4A>G)
c.2106+182875A>G (n.2106+182875A>G)
n.164-4A>G
 dbSNP gnomAD v3 gnomAD v4
3g.184327582_184327583insGACTCTCA1425958589EIF2B5,EIF4G1c.3662-4_3662-3insGACTCT (n.3662-4_3662-3insGACTCT)
c.3596-4_3596-3insGACTCT (n.3596-4_3596-3insGACTCT)
c.3009-4_3009-3insGACTCT (n.3009-4_3009-3insGACTCT)
c.3065-4_3065-3insGACTCT (n.3065-4_3065-3insGACTCT)
c.3665-4_3665-3insGACTCT (n.3665-4_3665-3insGACTCT)
c.3170-4_3170-3insGACTCT (n.3170-4_3170-3insGACTCT)
c.3683-4_3683-3insGACTCT (n.3683-4_3683-3insGACTCT)
c.3401-4_3401-3insGACTCT (n.3401-4_3401-3insGACTCT)
c.3545-4_3545-3insGACTCT (n.3545-4_3545-3insGACTCT)
c.3542-4_3542-3insGACTCT (n.3542-4_3542-3insGACTCT)
c.3404-4_3404-3insGACTCT (n.3404-4_3404-3insGACTCT)
c.3077-4_3077-3insGACTCT (n.3077-4_3077-3insGACTCT)
c.3074-4_3074-3insGACTCT (n.3074-4_3074-3insGACTCT)
c.3173-4_3173-3insGACTCT (n.3173-4_3173-3insGACTCT)
c.*3101-4_*3101-3insGACTCT (n.*3101-4_*3101-3insGACTCT)
c.2106+182875_2106+182876insGACTCT (n.2106+182875_2106+182876insGACTCT)
n.164-4_164-3insGACTCT
 dbSNP
3g.184327583C>TCA2668841307EIF2B5,EIF4G1c.3662-3C>T (n.3662-3C>T)
c.3596-3C>T (n.3596-3C>T)
c.3009-3C>T (n.3009-3C>T)
c.3065-3C>T (n.3065-3C>T)
c.3665-3C>T (n.3665-3C>T)
c.3170-3C>T (n.3170-3C>T)
c.3683-3C>T (n.3683-3C>T)
c.3401-3C>T (n.3401-3C>T)
c.3545-3C>T (n.3545-3C>T)
c.3542-3C>T (n.3542-3C>T)
c.3404-3C>T (n.3404-3C>T)
c.3077-3C>T (n.3077-3C>T)
c.3074-3C>T (n.3074-3C>T)
c.3173-3C>T (n.3173-3C>T)
c.*3101-3C>T (n.*3101-3C>T)
c.2106+182876C>T (n.2106+182876C>T)
n.164-3C>T
 gnomAD v4
3g.184327584A=CA1425958590EIF2B5,EIF4G1c.3662-2A= (n.3662-2A=)
c.3596-2A= (n.3596-2A=)
c.3009-2A= (n.3009-2A=)
c.3065-2A= (n.3065-2A=)
c.3665-2A= (n.3665-2A=)
c.3170-2A= (n.3170-2A=)
c.3683-2A= (n.3683-2A=)
c.3401-2A= (n.3401-2A=)
c.3545-2A= (n.3545-2A=)
c.3542-2A= (n.3542-2A=)
c.3404-2A= (n.3404-2A=)
c.3077-2A= (n.3077-2A=)
c.3074-2A= (n.3074-2A=)
c.3173-2A= (n.3173-2A=)
c.*3101-2A= (n.*3101-2A=)
c.2106+182877A= (n.2106+182877A=)
n.164-2A=
3g.184327584A>CCA355415624EIF2B5,EIF4G1c.3662-2A>C (n.3662-2A>C)
c.3596-2A>C (n.3596-2A>C)
c.3009-2A>C (n.3009-2A>C)
c.3065-2A>C (n.3065-2A>C)
c.3665-2A>C (n.3665-2A>C)
c.3170-2A>C (n.3170-2A>C)
c.3683-2A>C (n.3683-2A>C)
c.3401-2A>C (n.3401-2A>C)
c.3545-2A>C (n.3545-2A>C)
c.3542-2A>C (n.3542-2A>C)
c.3404-2A>C (n.3404-2A>C)
c.3077-2A>C (n.3077-2A>C)
c.3074-2A>C (n.3074-2A>C)
c.3173-2A>C (n.3173-2A>C)
c.*3101-2A>C (n.*3101-2A>C)
c.2106+182877A>C (n.2106+182877A>C)
n.164-2A>C
3g.184327584A>GCA355415628EIF2B5,EIF4G1c.3662-2A>G (n.3662-2A>G)
c.3596-2A>G (n.3596-2A>G)
c.3009-2A>G (n.3009-2A>G)
c.3065-2A>G (n.3065-2A>G)
c.3665-2A>G (n.3665-2A>G)
c.3170-2A>G (n.3170-2A>G)
c.3683-2A>G (n.3683-2A>G)
c.3401-2A>G (n.3401-2A>G)
c.3545-2A>G (n.3545-2A>G)
c.3542-2A>G (n.3542-2A>G)
c.3404-2A>G (n.3404-2A>G)
c.3077-2A>G (n.3077-2A>G)
c.3074-2A>G (n.3074-2A>G)
c.3173-2A>G (n.3173-2A>G)
c.*3101-2A>G (n.*3101-2A>G)
c.2106+182877A>G (n.2106+182877A>G)
n.164-2A>G
3g.184327584A>TCA355415631EIF2B5,EIF4G1c.3662-2A>T (n.3662-2A>T)
c.3596-2A>T (n.3596-2A>T)
c.3009-2A>T (n.3009-2A>T)
c.3065-2A>T (n.3065-2A>T)
c.3665-2A>T (n.3665-2A>T)
c.3170-2A>T (n.3170-2A>T)
c.3683-2A>T (n.3683-2A>T)
c.3401-2A>T (n.3401-2A>T)
c.3545-2A>T (n.3545-2A>T)
c.3542-2A>T (n.3542-2A>T)
c.3404-2A>T (n.3404-2A>T)
c.3077-2A>T (n.3077-2A>T)
c.3074-2A>T (n.3074-2A>T)
c.3173-2A>T (n.3173-2A>T)
c.*3101-2A>T (n.*3101-2A>T)
c.2106+182877A>T (n.2106+182877A>T)
n.164-2A>T
3g.184327584_184327585insCCGCA1425958591EIF2B5,EIF4G1c.3662-2_3662-1insCCG (n.3662-2_3662-1insCCG)
c.3596-2_3596-1insCCG (n.3596-2_3596-1insCCG)
c.3009-2_3009-1insCCG (n.3009-2_3009-1insCCG)
c.3065-2_3065-1insCCG (n.3065-2_3065-1insCCG)
c.3665-2_3665-1insCCG (n.3665-2_3665-1insCCG)
c.3170-2_3170-1insCCG (n.3170-2_3170-1insCCG)
c.3683-2_3683-1insCCG (n.3683-2_3683-1insCCG)
c.3401-2_3401-1insCCG (n.3401-2_3401-1insCCG)
c.3545-2_3545-1insCCG (n.3545-2_3545-1insCCG)
c.3542-2_3542-1insCCG (n.3542-2_3542-1insCCG)
c.3404-2_3404-1insCCG (n.3404-2_3404-1insCCG)
c.3077-2_3077-1insCCG (n.3077-2_3077-1insCCG)
c.3074-2_3074-1insCCG (n.3074-2_3074-1insCCG)
c.3173-2_3173-1insCCG (n.3173-2_3173-1insCCG)
c.*3101-2_*3101-1insCCG (n.*3101-2_*3101-1insCCG)
c.2106+182877_2106+182878insCCG (n.2106+182877_2106+182878insCCG)
n.164-2_164-1insCCG
 dbSNP
3g.184327585G>ACA355415634EIF2B5,EIF4G1c.3662-1G>A (n.3662-1G>A)
c.3596-1G>A (n.3596-1G>A)
c.3009-1G>A (n.3009-1G>A)
c.3065-1G>A (n.3065-1G>A)
c.3665-1G>A (n.3665-1G>A)
c.3170-1G>A (n.3170-1G>A)
c.3683-1G>A (n.3683-1G>A)
c.3401-1G>A (n.3401-1G>A)
c.3545-1G>A (n.3545-1G>A)
c.3542-1G>A (n.3542-1G>A)
c.3404-1G>A (n.3404-1G>A)
c.3077-1G>A (n.3077-1G>A)
c.3074-1G>A (n.3074-1G>A)
c.3173-1G>A (n.3173-1G>A)
c.*3101-1G>A (n.*3101-1G>A)
c.2106+182878G>A (n.2106+182878G>A)
n.164-1G>A
3g.184327585G>CCA355415637EIF2B5,EIF4G1c.3662-1G>C (n.3662-1G>C)
c.3596-1G>C (n.3596-1G>C)
c.3009-1G>C (n.3009-1G>C)
c.3065-1G>C (n.3065-1G>C)
c.3665-1G>C (n.3665-1G>C)
c.3170-1G>C (n.3170-1G>C)
c.3683-1G>C (n.3683-1G>C)
c.3401-1G>C (n.3401-1G>C)
c.3545-1G>C (n.3545-1G>C)
c.3542-1G>C (n.3542-1G>C)
c.3404-1G>C (n.3404-1G>C)
c.3077-1G>C (n.3077-1G>C)
c.3074-1G>C (n.3074-1G>C)
c.3173-1G>C (n.3173-1G>C)
c.*3101-1G>C (n.*3101-1G>C)
c.2106+182878G>C (n.2106+182878G>C)
n.164-1G>C
3g.184327585G>TCA355415639EIF2B5,EIF4G1c.3662-1G>T (n.3662-1G>T)
c.3596-1G>T (n.3596-1G>T)
c.3009-1G>T (n.3009-1G>T)
c.3065-1G>T (n.3065-1G>T)
c.3665-1G>T (n.3665-1G>T)
c.3170-1G>T (n.3170-1G>T)
c.3683-1G>T (n.3683-1G>T)
c.3401-1G>T (n.3401-1G>T)
c.3545-1G>T (n.3545-1G>T)
c.3542-1G>T (n.3542-1G>T)
c.3404-1G>T (n.3404-1G>T)
c.3077-1G>T (n.3077-1G>T)
c.3074-1G>T (n.3074-1G>T)
c.3173-1G>T (n.3173-1G>T)
c.*3101-1G>T (n.*3101-1G>T)
c.2106+182878G>T (n.2106+182878G>T)
n.164-1G>T
3g.184327586T>ACA355415643EIF2B5,EIF4G1c.3662T>A (p.Val1221Glu)
c.3596T>A (p.Val1199Glu)
c.3009T>A (n.3009T>A)
c.3065T>A (p.Val1022Glu)
c.3665T>A (p.Val1222Glu)
c.3170T>A (p.Val1057Glu)
c.3683T>A (p.Val1228Glu)
c.3401T>A (p.Val1134Glu)
c.3545T>A (p.Val1182Glu)
c.3542T>A (p.Val1181Glu)
c.3404T>A (p.Val1135Glu)
c.3077T>A (p.Val1026Glu)
c.3074T>A (p.Val1025Glu)
c.3173T>A (p.Val1058Glu)
c.*3101T>A (n.*3101T>A)
c.2106+182879T>A (n.2106+182879T>A)
n.164T>A
3g.184327586T>CCA355415646EIF2B5,EIF4G1c.3662T>C (p.Val1221Ala)
c.3596T>C (p.Val1199Ala)
c.3009T>C (n.3009T>C)
c.3065T>C (p.Val1022Ala)
c.3665T>C (p.Val1222Ala)
c.3170T>C (p.Val1057Ala)
c.3683T>C (p.Val1228Ala)
c.3401T>C (p.Val1134Ala)
c.3545T>C (p.Val1182Ala)
c.3542T>C (p.Val1181Ala)
c.3404T>C (p.Val1135Ala)
c.3077T>C (p.Val1026Ala)
c.3074T>C (p.Val1025Ala)
c.3173T>C (p.Val1058Ala)
c.*3101T>C (n.*3101T>C)
c.2106+182879T>C (n.2106+182879T>C)
n.164T>C
3g.184327586T>GCA355415649EIF2B5,EIF4G1c.3662T>G (p.Val1221Gly)
c.3596T>G (p.Val1199Gly)
c.3009T>G (n.3009T>G)
c.3065T>G (p.Val1022Gly)
c.3665T>G (p.Val1222Gly)
c.3170T>G (p.Val1057Gly)
c.3683T>G (p.Val1228Gly)
c.3401T>G (p.Val1134Gly)
c.3545T>G (p.Val1182Gly)
c.3542T>G (p.Val1181Gly)
c.3404T>G (p.Val1135Gly)
c.3077T>G (p.Val1026Gly)
c.3074T>G (p.Val1025Gly)
c.3173T>G (p.Val1058Gly)
c.*3101T>G (n.*3101T>G)
c.2106+182879T>G (n.2106+182879T>G)
n.164T>G
3g.184327587G>ACA437330520EIF2B5,EIF4G1c.3663G>A (p.Val1221=)
c.3597G>A (p.Val1199=)
c.3010G>A (n.3010G>A)
c.3066G>A (p.Val1022=)
c.3666G>A (p.Val1222=)
c.3171G>A (p.Val1057=)
c.3684G>A (p.Val1228=)
c.3402G>A (p.Val1134=)
c.3546G>A (p.Val1182=)
c.3543G>A (p.Val1181=)
c.3405G>A (p.Val1135=)
c.3078G>A (p.Val1026=)
c.3075G>A (p.Val1025=)
c.3174G>A (p.Val1058=)
c.*3102G>A (n.*3102G>A)
c.2106+182880G>A (n.2106+182880G>A)
n.165G>A
3g.184327587G>CCA2732887EIF2B5,EIF4G1c.3663G>C (p.Val1221=)
c.3597G>C (p.Val1199=)
c.3010G>C (n.3010G>C)
c.3066G>C (p.Val1022=)
c.3666G>C (p.Val1222=)
c.3171G>C (p.Val1057=)
c.3684G>C (p.Val1228=)
c.3402G>C (p.Val1134=)
c.3546G>C (p.Val1182=)
c.3543G>C (p.Val1181=)
c.3405G>C (p.Val1135=)
c.3078G>C (p.Val1026=)
c.3075G>C (p.Val1025=)
c.3174G>C (p.Val1058=)
c.*3102G>C (n.*3102G>C)
c.2106+182880G>C (n.2106+182880G>C)
n.165G>C
 dbSNP ExAC gnomAD v3 gnomAD v4
3g.184327587G=CA1425958592EIF2B5,EIF4G1c.3663G= (p.Val1221=)
c.3597G= (p.Val1199=)
c.3010G= (n.3010G=)
c.3066G= (p.Val1022=)
c.3666G= (p.Val1222=)
c.3171G= (p.Val1057=)
c.3684G= (p.Val1228=)
c.3402G= (p.Val1134=)
c.3546G= (p.Val1182=)
c.3543G= (p.Val1181=)
c.3405G= (p.Val1135=)
c.3078G= (p.Val1026=)
c.3075G= (p.Val1025=)
c.3174G= (p.Val1058=)
c.*3102G= (n.*3102G=)
c.2106+182880G= (n.2106+182880G=)
n.165G=
3g.184327587G>TCA437330521EIF2B5,EIF4G1c.3663G>T (p.Val1221=)
c.3597G>T (p.Val1199=)
c.3010G>T (n.3010G>T)
c.3066G>T (p.Val1022=)
c.3666G>T (p.Val1222=)
c.3171G>T (p.Val1057=)
c.3684G>T (p.Val1228=)
c.3402G>T (p.Val1134=)
c.3546G>T (p.Val1182=)
c.3543G>T (p.Val1181=)
c.3405G>T (p.Val1135=)
c.3078G>T (p.Val1026=)
c.3075G>T (p.Val1025=)
c.3174G>T (p.Val1058=)
c.*3102G>T (n.*3102G>T)
c.2106+182880G>T (n.2106+182880G>T)
n.165G>T
3g.184327588A=CA1425958593EIF2B5,EIF4G1c.3664A= (p.Lys1222=)
c.3598A= (p.Lys1200=)
c.3011A= (n.3011A=)
c.3067A= (p.Lys1023=)
c.3667A= (p.Lys1223=)
c.3172A= (p.Lys1058=)
c.3685A= (p.Lys1229=)
c.3403A= (p.Lys1135=)
c.3547A= (p.Lys1183=)
c.3544A= (p.Lys1182=)
c.3406A= (p.Lys1136=)
c.3079A= (p.Lys1027=)
c.3076A= (p.Lys1026=)
c.3175A= (p.Lys1059=)
c.*3103A= (n.*3103A=)
c.2106+182881A= (n.2106+182881A=)
n.166A=
3g.184327588A>CCA355415662EIF2B5,EIF4G1c.3664A>C (p.Lys1222Gln)
c.3598A>C (p.Lys1200Gln)
c.3011A>C (n.3011A>C)
c.3067A>C (p.Lys1023Gln)
c.3667A>C (p.Lys1223Gln)
c.3172A>C (p.Lys1058Gln)
c.3685A>C (p.Lys1229Gln)
c.3403A>C (p.Lys1135Gln)
c.3547A>C (p.Lys1183Gln)
c.3544A>C (p.Lys1182Gln)
c.3406A>C (p.Lys1136Gln)
c.3079A>C (p.Lys1027Gln)
c.3076A>C (p.Lys1026Gln)
c.3175A>C (p.Lys1059Gln)
c.*3103A>C (n.*3103A>C)
c.2106+182881A>C (n.2106+182881A>C)
n.166A>C
 dbSNP
3g.184327588A>GCA355415657EIF2B5,EIF4G1c.3664A>G (p.Lys1222Glu)
c.3598A>G (p.Lys1200Glu)
c.3011A>G (n.3011A>G)
c.3067A>G (p.Lys1023Glu)
c.3667A>G (p.Lys1223Glu)
c.3172A>G (p.Lys1058Glu)
c.3685A>G (p.Lys1229Glu)
c.3403A>G (p.Lys1135Glu)
c.3547A>G (p.Lys1183Glu)
c.3544A>G (p.Lys1182Glu)
c.3406A>G (p.Lys1136Glu)
c.3079A>G (p.Lys1027Glu)
c.3076A>G (p.Lys1026Glu)
c.3175A>G (p.Lys1059Glu)
c.*3103A>G (n.*3103A>G)
c.2106+182881A>G (n.2106+182881A>G)
n.166A>G
3g.184327588A>TCA355415659EIF2B5,EIF4G1c.3664A>T (p.Lys1222Ter)
c.3598A>T (p.Lys1200Ter)
c.3011A>T (n.3011A>T)
c.3067A>T (p.Lys1023Ter)
c.3667A>T (p.Lys1223Ter)
c.3172A>T (p.Lys1058Ter)
c.3685A>T (p.Lys1229Ter)
c.3403A>T (p.Lys1135Ter)
c.3547A>T (p.Lys1183Ter)
c.3544A>T (p.Lys1182Ter)
c.3406A>T (p.Lys1136Ter)
c.3079A>T (p.Lys1027Ter)
c.3076A>T (p.Lys1026Ter)
c.3175A>T (p.Lys1059Ter)
c.*3103A>T (n.*3103A>T)
c.2106+182881A>T (n.2106+182881A>T)
n.166A>T
3g.184327589A>CCA355415666EIF2B5,EIF4G1c.3665A>C (p.Lys1222Thr)
c.3599A>C (p.Lys1200Thr)
c.3012A>C (n.3012A>C)
c.3068A>C (p.Lys1023Thr)
c.3668A>C (p.Lys1223Thr)
c.3173A>C (p.Lys1058Thr)
c.3686A>C (p.Lys1229Thr)
c.3404A>C (p.Lys1135Thr)
c.3548A>C (p.Lys1183Thr)
c.3545A>C (p.Lys1182Thr)
c.3407A>C (p.Lys1136Thr)
c.3080A>C (p.Lys1027Thr)
c.3077A>C (p.Lys1026Thr)
c.3176A>C (p.Lys1059Thr)
c.*3104A>C (n.*3104A>C)
c.2106+182882A>C (n.2106+182882A>C)
n.167A>C
3g.184327589A>GCA355415668EIF2B5,EIF4G1c.3665A>G (p.Lys1222Arg)
c.3599A>G (p.Lys1200Arg)
c.3012A>G (n.3012A>G)
c.3068A>G (p.Lys1023Arg)
c.3668A>G (p.Lys1223Arg)
c.3173A>G (p.Lys1058Arg)
c.3686A>G (p.Lys1229Arg)
c.3404A>G (p.Lys1135Arg)
c.3548A>G (p.Lys1183Arg)
c.3545A>G (p.Lys1182Arg)
c.3407A>G (p.Lys1136Arg)
c.3080A>G (p.Lys1027Arg)
c.3077A>G (p.Lys1026Arg)
c.3176A>G (p.Lys1059Arg)
c.*3104A>G (n.*3104A>G)
c.2106+182882A>G (n.2106+182882A>G)
n.167A>G
 gnomAD v4
3g.184327589A>TCA355415670EIF2B5,EIF4G1c.3665A>T (p.Lys1222Met)
c.3599A>T (p.Lys1200Met)
c.3012A>T (n.3012A>T)
c.3068A>T (p.Lys1023Met)
c.3668A>T (p.Lys1223Met)
c.3173A>T (p.Lys1058Met)
c.3686A>T (p.Lys1229Met)
c.3404A>T (p.Lys1135Met)
c.3548A>T (p.Lys1183Met)
c.3545A>T (p.Lys1182Met)
c.3407A>T (p.Lys1136Met)
c.3080A>T (p.Lys1027Met)
c.3077A>T (p.Lys1026Met)
c.3176A>T (p.Lys1059Met)
c.*3104A>T (n.*3104A>T)
c.2106+182882A>T (n.2106+182882A>T)
n.167A>T
3g.184327590G>ACA437330523EIF2B5,EIF4G1c.3666G>A (p.Lys1222=)
c.3600G>A (p.Lys1200=)
c.3013G>A (n.3013G>A)
c.3069G>A (p.Lys1023=)
c.3669G>A (p.Lys1223=)
c.3174G>A (p.Lys1058=)
c.3687G>A (p.Lys1229=)
c.3405G>A (p.Lys1135=)
c.3549G>A (p.Lys1183=)
c.3546G>A (p.Lys1182=)
c.3408G>A (p.Lys1136=)
c.3081G>A (p.Lys1027=)
c.3078G>A (p.Lys1026=)
c.3177G>A (p.Lys1059=)
c.*3105G>A (n.*3105G>A)
c.2106+182883G>A (n.2106+182883G>A)
n.168G>A
 gnomAD v4
3g.184327590G>CCA355415674EIF2B5,EIF4G1c.3666G>C (p.Lys1222Asn)
c.3600G>C (p.Lys1200Asn)
c.3013G>C (n.3013G>C)
c.3069G>C (p.Lys1023Asn)
c.3669G>C (p.Lys1223Asn)
c.3174G>C (p.Lys1058Asn)
c.3687G>C (p.Lys1229Asn)
c.3405G>C (p.Lys1135Asn)
c.3549G>C (p.Lys1183Asn)
c.3546G>C (p.Lys1182Asn)
c.3408G>C (p.Lys1136Asn)
c.3081G>C (p.Lys1027Asn)
c.3078G>C (p.Lys1026Asn)
c.3177G>C (p.Lys1059Asn)
c.*3105G>C (n.*3105G>C)
c.2106+182883G>C (n.2106+182883G>C)
n.168G>C
3g.184327590G>TCA355415677EIF2B5,EIF4G1c.3666G>T (p.Lys1222Asn)
c.3600G>T (p.Lys1200Asn)
c.3013G>T (n.3013G>T)
c.3069G>T (p.Lys1023Asn)
c.3669G>T (p.Lys1223Asn)
c.3174G>T (p.Lys1058Asn)
c.3687G>T (p.Lys1229Asn)
c.3405G>T (p.Lys1135Asn)
c.3549G>T (p.Lys1183Asn)
c.3546G>T (p.Lys1182Asn)
c.3408G>T (p.Lys1136Asn)
c.3081G>T (p.Lys1027Asn)
c.3078G>T (p.Lys1026Asn)
c.3177G>T (p.Lys1059Asn)
c.*3105G>T (n.*3105G>T)
c.2106+182883G>T (n.2106+182883G>T)
n.168G>T
 gnomAD v4
3g.184327591C>ACA437330526EIF2B5,EIF4G1c.3667C>A (p.Arg1223=)
c.3601C>A (p.Arg1201=)
c.3014C>A (n.3014C>A)
c.3070C>A (p.Arg1024=)
c.3670C>A (p.Arg1224=)
c.3175C>A (p.Arg1059=)
c.3688C>A (p.Arg1230=)
c.3406C>A (p.Arg1136=)
c.3550C>A (p.Arg1184=)
c.3547C>A (p.Arg1183=)
c.3409C>A (p.Arg1137=)
c.3082C>A (p.Arg1028=)
c.3079C>A (p.Arg1027=)
c.3178C>A (p.Arg1060=)
c.*3106C>A (n.*3106C>A)
c.2106+182884C>A (n.2106+182884C>A)
n.169C>A
 dbSNP gnomAD v3 gnomAD v4
3g.184327591C=CA1425958594EIF2B5,EIF4G1c.3667C= (p.Arg1223=)
c.3601C= (p.Arg1201=)
c.3014C= (n.3014C=)
c.3070C= (p.Arg1024=)
c.3670C= (p.Arg1224=)
c.3175C= (p.Arg1059=)
c.3688C= (p.Arg1230=)
c.3406C= (p.Arg1136=)
c.3550C= (p.Arg1184=)
c.3547C= (p.Arg1183=)
c.3409C= (p.Arg1137=)
c.3082C= (p.Arg1028=)
c.3079C= (p.Arg1027=)
c.3178C= (p.Arg1060=)
c.*3106C= (n.*3106C=)
c.2106+182884C= (n.2106+182884C=)
n.169C=
3g.184327591C>GCA355415682EIF2B5,EIF4G1c.3667C>G (p.Arg1223Gly)
c.3601C>G (p.Arg1201Gly)
c.3014C>G (n.3014C>G)
c.3070C>G (p.Arg1024Gly)
c.3670C>G (p.Arg1224Gly)
c.3175C>G (p.Arg1059Gly)
c.3688C>G (p.Arg1230Gly)
c.3406C>G (p.Arg1136Gly)
c.3550C>G (p.Arg1184Gly)
c.3547C>G (p.Arg1183Gly)
c.3409C>G (p.Arg1137Gly)
c.3082C>G (p.Arg1028Gly)
c.3079C>G (p.Arg1027Gly)
c.3178C>G (p.Arg1060Gly)
c.*3106C>G (n.*3106C>G)
c.2106+182884C>G (n.2106+182884C>G)
n.169C>G
3g.184327591C>TCA355415684EIF2B5,EIF4G1c.3667C>T (p.Arg1223Ter)
c.3601C>T (p.Arg1201Ter)
c.3014C>T (n.3014C>T)
c.3070C>T (p.Arg1024Ter)
c.3670C>T (p.Arg1224Ter)
c.3175C>T (p.Arg1059Ter)
c.3688C>T (p.Arg1230Ter)
c.3406C>T (p.Arg1136Ter)
c.3550C>T (p.Arg1184Ter)
c.3547C>T (p.Arg1183Ter)
c.3409C>T (p.Arg1137Ter)
c.3082C>T (p.Arg1028Ter)
c.3079C>T (p.Arg1027Ter)
c.3178C>T (p.Arg1060Ter)
c.*3106C>T (n.*3106C>T)
c.2106+182884C>T (n.2106+182884C>T)
n.169C>T
 COSMIC
3g.184327592G>ACA355415689EIF2B5,EIF4G1c.3668G>A (p.Arg1223Gln)
c.3602G>A (p.Arg1201Gln)
c.3015G>A (n.3015G>A)
c.3071G>A (p.Arg1024Gln)
c.3671G>A (p.Arg1224Gln)
c.3176G>A (p.Arg1059Gln)
c.3689G>A (p.Arg1230Gln)
c.3407G>A (p.Arg1136Gln)
c.3551G>A (p.Arg1184Gln)
c.3548G>A (p.Arg1183Gln)
c.3410G>A (p.Arg1137Gln)
c.3083G>A (p.Arg1028Gln)
c.3080G>A (p.Arg1027Gln)
c.3179G>A (p.Arg1060Gln)
c.*3107G>A (n.*3107G>A)
c.2106+182885G>A (n.2106+182885G>A)
n.170G>A
 dbSNP gnomAD v2 gnomAD v4
3g.184327592G>CCA355415693EIF2B5,EIF4G1c.3668G>C (p.Arg1223Pro)
c.3602G>C (p.Arg1201Pro)
c.3015G>C (n.3015G>C)
c.3071G>C (p.Arg1024Pro)
c.3671G>C (p.Arg1224Pro)
c.3176G>C (p.Arg1059Pro)
c.3689G>C (p.Arg1230Pro)
c.3407G>C (p.Arg1136Pro)
c.3551G>C (p.Arg1184Pro)
c.3548G>C (p.Arg1183Pro)
c.3410G>C (p.Arg1137Pro)
c.3083G>C (p.Arg1028Pro)
c.3080G>C (p.Arg1027Pro)
c.3179G>C (p.Arg1060Pro)
c.*3107G>C (n.*3107G>C)
c.2106+182885G>C (n.2106+182885G>C)
n.170G>C
3g.184327592G=CA1425958595EIF2B5,EIF4G1c.3668G= (p.Arg1223=)
c.3602G= (p.Arg1201=)
c.3015G= (n.3015G=)
c.3071G= (p.Arg1024=)
c.3671G= (p.Arg1224=)
c.3176G= (p.Arg1059=)
c.3689G= (p.Arg1230=)
c.3407G= (p.Arg1136=)
c.3551G= (p.Arg1184=)
c.3548G= (p.Arg1183=)
c.3410G= (p.Arg1137=)
c.3083G= (p.Arg1028=)
c.3080G= (p.Arg1027=)
c.3179G= (p.Arg1060=)
c.*3107G= (n.*3107G=)
c.2106+182885G= (n.2106+182885G=)
n.170G=
3g.184327592G>TCA355415697EIF2B5,EIF4G1c.3668G>T (p.Arg1223Leu)
c.3602G>T (p.Arg1201Leu)
c.3015G>T (n.3015G>T)
c.3071G>T (p.Arg1024Leu)
c.3671G>T (p.Arg1224Leu)
c.3176G>T (p.Arg1059Leu)
c.3689G>T (p.Arg1230Leu)
c.3407G>T (p.Arg1136Leu)
c.3551G>T (p.Arg1184Leu)
c.3548G>T (p.Arg1183Leu)
c.3410G>T (p.Arg1137Leu)
c.3083G>T (p.Arg1028Leu)
c.3080G>T (p.Arg1027Leu)
c.3179G>T (p.Arg1060Leu)
c.*3107G>T (n.*3107G>T)
c.2106+182885G>T (n.2106+182885G>T)
n.170G>T
3g.184327593A>CCA437330528EIF2B5,EIF4G1c.3669A>C (p.Arg1223=)
c.3603A>C (p.Arg1201=)
c.3016A>C (n.3016A>C)
c.3072A>C (p.Arg1024=)
c.3672A>C (p.Arg1224=)
c.3177A>C (p.Arg1059=)
c.3690A>C (p.Arg1230=)
c.3408A>C (p.Arg1136=)
c.3552A>C (p.Arg1184=)
c.3549A>C (p.Arg1183=)
c.3411A>C (p.Arg1137=)
c.3084A>C (p.Arg1028=)
c.3081A>C (p.Arg1027=)
c.3180A>C (p.Arg1060=)
c.*3108A>C (n.*3108A>C)
c.2106+182886A>C (n.2106+182886A>C)
n.171A>C
3g.184327593A>GCA437330530EIF2B5,EIF4G1c.3669A>G (p.Arg1223=)
c.3603A>G (p.Arg1201=)
c.3016A>G (n.3016A>G)
c.3072A>G (p.Arg1024=)
c.3672A>G (p.Arg1224=)
c.3177A>G (p.Arg1059=)
c.3690A>G (p.Arg1230=)
c.3408A>G (p.Arg1136=)
c.3552A>G (p.Arg1184=)
c.3549A>G (p.Arg1183=)
c.3411A>G (p.Arg1137=)
c.3084A>G (p.Arg1028=)
c.3081A>G (p.Arg1027=)
c.3180A>G (p.Arg1060=)
c.*3108A>G (n.*3108A>G)
c.2106+182886A>G (n.2106+182886A>G)
n.171A>G
 gnomAD v4
3g.184327593A>TCA437330532EIF2B5,EIF4G1c.3669A>T (p.Arg1223=)
c.3603A>T (p.Arg1201=)
c.3016A>T (n.3016A>T)
c.3072A>T (p.Arg1024=)
c.3672A>T (p.Arg1224=)
c.3177A>T (p.Arg1059=)
c.3690A>T (p.Arg1230=)
c.3408A>T (p.Arg1136=)
c.3552A>T (p.Arg1184=)
c.3549A>T (p.Arg1183=)
c.3411A>T (p.Arg1137=)
c.3084A>T (p.Arg1028=)
c.3081A>T (p.Arg1027=)
c.3180A>T (p.Arg1060=)
c.*3108A>T (n.*3108A>T)
c.2106+182886A>T (n.2106+182886A>T)
n.171A>T
3g.184327594G>ACA355415700EIF2B5,EIF4G1c.3670G>A (p.Glu1224Lys)
c.3604G>A (p.Glu1202Lys)
c.3017G>A (n.3017G>A)
c.3073G>A (p.Glu1025Lys)
c.3673G>A (p.Glu1225Lys)
c.3178G>A (p.Glu1060Lys)
c.3691G>A (p.Glu1231Lys)
c.3409G>A (p.Glu1137Lys)
c.3553G>A (p.Glu1185Lys)
c.3550G>A (p.Glu1184Lys)
c.3412G>A (p.Glu1138Lys)
c.3085G>A (p.Glu1029Lys)
c.3082G>A (p.Glu1028Lys)
c.3181G>A (p.Glu1061Lys)
c.*3109G>A (n.*3109G>A)
c.2106+182887G>A (n.2106+182887G>A)
n.172G>A
3g.184327594G>CCA355415702EIF2B5,EIF4G1c.3670G>C (p.Glu1224Gln)
c.3604G>C (p.Glu1202Gln)
c.3017G>C (n.3017G>C)
c.3073G>C (p.Glu1025Gln)
c.3673G>C (p.Glu1225Gln)
c.3178G>C (p.Glu1060Gln)
c.3691G>C (p.Glu1231Gln)
c.3409G>C (p.Glu1137Gln)
c.3553G>C (p.Glu1185Gln)
c.3550G>C (p.Glu1184Gln)
c.3412G>C (p.Glu1138Gln)
c.3085G>C (p.Glu1029Gln)
c.3082G>C (p.Glu1028Gln)
c.3181G>C (p.Glu1061Gln)
c.*3109G>C (n.*3109G>C)
c.2106+182887G>C (n.2106+182887G>C)
n.172G>C
3g.184327594G>TCA355415705EIF2B5,EIF4G1c.3670G>T (p.Glu1224Ter)
c.3604G>T (p.Glu1202Ter)
c.3017G>T (n.3017G>T)
c.3073G>T (p.Glu1025Ter)
c.3673G>T (p.Glu1225Ter)
c.3178G>T (p.Glu1060Ter)
c.3691G>T (p.Glu1231Ter)
c.3409G>T (p.Glu1137Ter)
c.3553G>T (p.Glu1185Ter)
c.3550G>T (p.Glu1184Ter)
c.3412G>T (p.Glu1138Ter)
c.3085G>T (p.Glu1029Ter)
c.3082G>T (p.Glu1028Ter)
c.3181G>T (p.Glu1061Ter)
c.*3109G>T (n.*3109G>T)
c.2106+182887G>T (n.2106+182887G>T)
n.172G>T
3g.184327595A>CCA355415713EIF2B5,EIF4G1c.3671A>C (p.Glu1224Ala)
c.3605A>C (p.Glu1202Ala)
c.3018A>C (n.3018A>C)
c.3074A>C (p.Glu1025Ala)
c.3674A>C (p.Glu1225Ala)
c.3179A>C (p.Glu1060Ala)
c.3692A>C (p.Glu1231Ala)
c.3410A>C (p.Glu1137Ala)
c.3554A>C (p.Glu1185Ala)
c.3551A>C (p.Glu1184Ala)
c.3413A>C (p.Glu1138Ala)
c.3086A>C (p.Glu1029Ala)
c.3083A>C (p.Glu1028Ala)
c.3182A>C (p.Glu1061Ala)
c.*3110A>C (n.*3110A>C)
c.2106+182888A>C (n.2106+182888A>C)
n.173A>C
3g.184327595A>GCA355415709EIF2B5,EIF4G1c.3671A>G (p.Glu1224Gly)
c.3605A>G (p.Glu1202Gly)
c.3018A>G (n.3018A>G)
c.3074A>G (p.Glu1025Gly)
c.3674A>G (p.Glu1225Gly)
c.3179A>G (p.Glu1060Gly)
c.3692A>G (p.Glu1231Gly)
c.3410A>G (p.Glu1137Gly)
c.3554A>G (p.Glu1185Gly)
c.3551A>G (p.Glu1184Gly)
c.3413A>G (p.Glu1138Gly)
c.3086A>G (p.Glu1029Gly)
c.3083A>G (p.Glu1028Gly)
c.3182A>G (p.Glu1061Gly)
c.*3110A>G (n.*3110A>G)
c.2106+182888A>G (n.2106+182888A>G)
n.173A>G
3g.184327595A>TCA355415711EIF2B5,EIF4G1c.3671A>T (p.Glu1224Val)
c.3605A>T (p.Glu1202Val)
c.3018A>T (n.3018A>T)
c.3074A>T (p.Glu1025Val)
c.3674A>T (p.Glu1225Val)
c.3179A>T (p.Glu1060Val)
c.3692A>T (p.Glu1231Val)
c.3410A>T (p.Glu1137Val)
c.3554A>T (p.Glu1185Val)
c.3551A>T (p.Glu1184Val)
c.3413A>T (p.Glu1138Val)
c.3086A>T (p.Glu1029Val)
c.3083A>T (p.Glu1028Val)
c.3182A>T (p.Glu1061Val)
c.*3110A>T (n.*3110A>T)
c.2106+182888A>T (n.2106+182888A>T)
n.173A>T
 gnomAD v4
3g.184327596A=CA1425958596EIF2B5,EIF4G1c.3672A= (p.Glu1224=)
c.3606A= (p.Glu1202=)
c.3019A= (n.3019A=)
c.3075A= (p.Glu1025=)
c.3675A= (p.Glu1225=)
c.3180A= (p.Glu1060=)
c.3693A= (p.Glu1231=)
c.3411A= (p.Glu1137=)
c.3555A= (p.Glu1185=)
c.3552A= (p.Glu1184=)
c.3414A= (p.Glu1138=)
c.3087A= (p.Glu1029=)
c.3084A= (p.Glu1028=)
c.3183A= (p.Glu1061=)
c.*3111A= (n.*3111A=)
c.2106+182889A= (n.2106+182889A=)
n.174A=
3g.184327596A>CCA355415716EIF2B5,EIF4G1c.3672A>C (p.Glu1224Asp)
c.3606A>C (p.Glu1202Asp)
c.3019A>C (n.3019A>C)
c.3075A>C (p.Glu1025Asp)
c.3675A>C (p.Glu1225Asp)
c.3180A>C (p.Glu1060Asp)
c.3693A>C (p.Glu1231Asp)
c.3411A>C (p.Glu1137Asp)
c.3555A>C (p.Glu1185Asp)
c.3552A>C (p.Glu1184Asp)
c.3414A>C (p.Glu1138Asp)
c.3087A>C (p.Glu1029Asp)
c.3084A>C (p.Glu1028Asp)
c.3183A>C (p.Glu1061Asp)
c.*3111A>C (n.*3111A>C)
c.2106+182889A>C (n.2106+182889A>C)
n.174A>C
3g.184327596A>GCA2732888EIF2B5,EIF4G1c.3672A>G (p.Glu1224=)
c.3606A>G (p.Glu1202=)
c.3019A>G (n.3019A>G)
c.3075A>G (p.Glu1025=)
c.3675A>G (p.Glu1225=)
c.3180A>G (p.Glu1060=)
c.3693A>G (p.Glu1231=)
c.3411A>G (p.Glu1137=)
c.3555A>G (p.Glu1185=)
c.3552A>G (p.Glu1184=)
c.3414A>G (p.Glu1138=)
c.3087A>G (p.Glu1029=)
c.3084A>G (p.Glu1028=)
c.3183A>G (p.Glu1061=)
c.*3111A>G (n.*3111A>G)
c.2106+182889A>G (n.2106+182889A>G)
n.174A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.184327596A>TCA355415721EIF2B5,EIF4G1c.3672A>T (p.Glu1224Asp)
c.3606A>T (p.Glu1202Asp)
c.3019A>T (n.3019A>T)
c.3075A>T (p.Glu1025Asp)
c.3675A>T (p.Glu1225Asp)
c.3180A>T (p.Glu1060Asp)
c.3693A>T (p.Glu1231Asp)
c.3411A>T (p.Glu1137Asp)
c.3555A>T (p.Glu1185Asp)
c.3552A>T (p.Glu1184Asp)
c.3414A>T (p.Glu1138Asp)
c.3087A>T (p.Glu1029Asp)
c.3084A>T (p.Glu1028Asp)
c.3183A>T (p.Glu1061Asp)
c.*3111A>T (n.*3111A>T)
c.2106+182889A>T (n.2106+182889A>T)
n.174A>T
3g.184327597G>ACA355415724EIF2B5,EIF4G1c.3673G>A (p.Ala1225Thr)
c.3607G>A (p.Ala1203Thr)
c.3020G>A (n.3020G>A)
c.3076G>A (p.Ala1026Thr)
c.3676G>A (p.Ala1226Thr)
c.3181G>A (p.Ala1061Thr)
c.3694G>A (p.Ala1232Thr)
c.3412G>A (p.Ala1138Thr)
c.3556G>A (p.Ala1186Thr)
c.3553G>A (p.Ala1185Thr)
c.3415G>A (p.Ala1139Thr)
c.3088G>A (p.Ala1030Thr)
c.3085G>A (p.Ala1029Thr)
c.3184G>A (p.Ala1062Thr)
c.*3112G>A (n.*3112G>A)
c.2106+182890G>A (n.2106+182890G>A)
n.175G>A
3g.184327597G>CCA355415726EIF2B5,EIF4G1c.3673G>C (p.Ala1225Pro)
c.3607G>C (p.Ala1203Pro)
c.3020G>C (n.3020G>C)
c.3076G>C (p.Ala1026Pro)
c.3676G>C (p.Ala1226Pro)
c.3181G>C (p.Ala1061Pro)
c.3694G>C (p.Ala1232Pro)
c.3412G>C (p.Ala1138Pro)
c.3556G>C (p.Ala1186Pro)
c.3553G>C (p.Ala1185Pro)
c.3415G>C (p.Ala1139Pro)
c.3088G>C (p.Ala1030Pro)
c.3085G>C (p.Ala1029Pro)
c.3184G>C (p.Ala1062Pro)
c.*3112G>C (n.*3112G>C)
c.2106+182890G>C (n.2106+182890G>C)
n.175G>C
3g.184327597G>TCA355415730EIF2B5,EIF4G1c.3673G>T (p.Ala1225Ser)
c.3607G>T (p.Ala1203Ser)
c.3020G>T (n.3020G>T)
c.3076G>T (p.Ala1026Ser)
c.3676G>T (p.Ala1226Ser)
c.3181G>T (p.Ala1061Ser)
c.3694G>T (p.Ala1232Ser)
c.3412G>T (p.Ala1138Ser)
c.3556G>T (p.Ala1186Ser)
c.3553G>T (p.Ala1185Ser)
c.3415G>T (p.Ala1139Ser)
c.3088G>T (p.Ala1030Ser)
c.3085G>T (p.Ala1029Ser)
c.3184G>T (p.Ala1062Ser)
c.*3112G>T (n.*3112G>T)
c.2106+182890G>T (n.2106+182890G>T)
n.175G>T
 COSMIC
3g.184327598C>ACA355415733EIF2B5,EIF4G1c.3674C>A (p.Ala1225Asp)
c.3608C>A (p.Ala1203Asp)
c.3021C>A (n.3021C>A)
c.3077C>A (p.Ala1026Asp)
c.3677C>A (p.Ala1226Asp)
c.3182C>A (p.Ala1061Asp)
c.3695C>A (p.Ala1232Asp)
c.3413C>A (p.Ala1138Asp)
c.3557C>A (p.Ala1186Asp)
c.3554C>A (p.Ala1185Asp)
c.3416C>A (p.Ala1139Asp)
c.3089C>A (p.Ala1030Asp)
c.3086C>A (p.Ala1029Asp)
c.3185C>A (p.Ala1062Asp)
c.*3113C>A (n.*3113C>A)
c.2106+182891C>A (n.2106+182891C>A)
n.176C>A
3g.184327598C=CA1425958597EIF2B5,EIF4G1c.3674C= (p.Ala1225=)
c.3608C= (p.Ala1203=)
c.3021C= (n.3021C=)
c.3077C= (p.Ala1026=)
c.3677C= (p.Ala1226=)
c.3182C= (p.Ala1061=)
c.3695C= (p.Ala1232=)
c.3413C= (p.Ala1138=)
c.3557C= (p.Ala1186=)
c.3554C= (p.Ala1185=)
c.3416C= (p.Ala1139=)
c.3089C= (p.Ala1030=)
c.3086C= (p.Ala1029=)
c.3185C= (p.Ala1062=)
c.*3113C= (n.*3113C=)
c.2106+182891C= (n.2106+182891C=)
n.176C=
3g.184327598C>GCA2732889EIF2B5,EIF4G1c.3674C>G (p.Ala1225Gly)
c.3608C>G (p.Ala1203Gly)
c.3021C>G (n.3021C>G)
c.3077C>G (p.Ala1026Gly)
c.3677C>G (p.Ala1226Gly)
c.3182C>G (p.Ala1061Gly)
c.3695C>G (p.Ala1232Gly)
c.3413C>G (p.Ala1138Gly)
c.3557C>G (p.Ala1186Gly)
c.3554C>G (p.Ala1185Gly)
c.3416C>G (p.Ala1139Gly)
c.3089C>G (p.Ala1030Gly)
c.3086C>G (p.Ala1029Gly)
c.3185C>G (p.Ala1062Gly)
c.*3113C>G (n.*3113C>G)
c.2106+182891C>G (n.2106+182891C>G)
n.176C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.184327598C>TCA355415736EIF2B5,EIF4G1c.3674C>T (p.Ala1225Val)
c.3608C>T (p.Ala1203Val)
c.3021C>T (n.3021C>T)
c.3077C>T (p.Ala1026Val)
c.3677C>T (p.Ala1226Val)
c.3182C>T (p.Ala1061Val)
c.3695C>T (p.Ala1232Val)
c.3413C>T (p.Ala1138Val)
c.3557C>T (p.Ala1186Val)
c.3554C>T (p.Ala1185Val)
c.3416C>T (p.Ala1139Val)
c.3089C>T (p.Ala1030Val)
c.3086C>T (p.Ala1029Val)
c.3185C>T (p.Ala1062Val)
c.*3113C>T (n.*3113C>T)
c.2106+182891C>T (n.2106+182891C>T)
n.176C>T
3g.184327599T>ACA437330538EIF2B5,EIF4G1c.3675T>A (p.Ala1225=)
c.3609T>A (p.Ala1203=)
c.3022T>A (n.3022T>A)
c.3078T>A (p.Ala1026=)
c.3678T>A (p.Ala1226=)
c.3183T>A (p.Ala1061=)
c.3696T>A (p.Ala1232=)
c.3414T>A (p.Ala1138=)
c.3558T>A (p.Ala1186=)
c.3555T>A (p.Ala1185=)
c.3417T>A (p.Ala1139=)
c.3090T>A (p.Ala1030=)
c.3087T>A (p.Ala1029=)
c.3186T>A (p.Ala1062=)
c.*3114T>A (n.*3114T>A)
c.2106+182892T>A (n.2106+182892T>A)
n.177T>A
3g.184327599T>CCA437330540EIF2B5,EIF4G1c.3675T>C (p.Ala1225=)
c.3609T>C (p.Ala1203=)
c.3022T>C (n.3022T>C)
c.3078T>C (p.Ala1026=)
c.3678T>C (p.Ala1226=)
c.3183T>C (p.Ala1061=)
c.3696T>C (p.Ala1232=)
c.3414T>C (p.Ala1138=)
c.3558T>C (p.Ala1186=)
c.3555T>C (p.Ala1185=)
c.3417T>C (p.Ala1139=)
c.3090T>C (p.Ala1030=)
c.3087T>C (p.Ala1029=)
c.3186T>C (p.Ala1062=)
c.*3114T>C (n.*3114T>C)
c.2106+182892T>C (n.2106+182892T>C)
n.177T>C
 dbSNP gnomAD v2 gnomAD v4
3g.184327599T>GCA437330541EIF2B5,EIF4G1c.3675T>G (p.Ala1225=)
c.3609T>G (p.Ala1203=)
c.3022T>G (n.3022T>G)
c.3078T>G (p.Ala1026=)
c.3678T>G (p.Ala1226=)
c.3183T>G (p.Ala1061=)
c.3696T>G (p.Ala1232=)
c.3414T>G (p.Ala1138=)
c.3558T>G (p.Ala1186=)
c.3555T>G (p.Ala1185=)
c.3417T>G (p.Ala1139=)
c.3090T>G (p.Ala1030=)
c.3087T>G (p.Ala1029=)
c.3186T>G (p.Ala1062=)
c.*3114T>G (n.*3114T>G)
c.2106+182892T>G (n.2106+182892T>G)
n.177T>G
3g.184327599T=CA1425958598EIF2B5,EIF4G1c.3675T= (p.Ala1225=)
c.3609T= (p.Ala1203=)
c.3022T= (n.3022T=)
c.3078T= (p.Ala1026=)
c.3678T= (p.Ala1226=)
c.3183T= (p.Ala1061=)
c.3696T= (p.Ala1232=)
c.3414T= (p.Ala1138=)
c.3558T= (p.Ala1186=)
c.3555T= (p.Ala1185=)
c.3417T= (p.Ala1139=)
c.3090T= (p.Ala1030=)
c.3087T= (p.Ala1029=)
c.3186T= (p.Ala1062=)
c.*3114T= (n.*3114T=)
c.2106+182892T= (n.2106+182892T=)
n.177T=
3g.184327600G>ACA355415739EIF2B5,EIF4G1c.3676G>A (p.Ala1226Thr)
c.3610G>A (p.Ala1204Thr)
c.3023G>A (n.3023G>A)
c.3079G>A (p.Ala1027Thr)
c.3679G>A (p.Ala1227Thr)
c.3184G>A (p.Ala1062Thr)
c.3697G>A (p.Ala1233Thr)
c.3415G>A (p.Ala1139Thr)
c.3559G>A (p.Ala1187Thr)
c.3556G>A (p.Ala1186Thr)
c.3418G>A (p.Ala1140Thr)
c.3091G>A (p.Ala1031Thr)
c.3088G>A (p.Ala1030Thr)
c.3187G>A (p.Ala1063Thr)
c.*3115G>A (n.*3115G>A)
c.2106+182893G>A (n.2106+182893G>A)
n.178G>A
3g.184327600G>CCA355415741EIF2B5,EIF4G1c.3676G>C (p.Ala1226Pro)
c.3610G>C (p.Ala1204Pro)
c.3023G>C (n.3023G>C)
c.3079G>C (p.Ala1027Pro)
c.3679G>C (p.Ala1227Pro)
c.3184G>C (p.Ala1062Pro)
c.3697G>C (p.Ala1233Pro)
c.3415G>C (p.Ala1139Pro)
c.3559G>C (p.Ala1187Pro)
c.3556G>C (p.Ala1186Pro)
c.3418G>C (p.Ala1140Pro)
c.3091G>C (p.Ala1031Pro)
c.3088G>C (p.Ala1030Pro)
c.3187G>C (p.Ala1063Pro)
c.*3115G>C (n.*3115G>C)
c.2106+182893G>C (n.2106+182893G>C)
n.178G>C
 gnomAD v4
3g.184327600G>TCA355415744EIF2B5,EIF4G1c.3676G>T (p.Ala1226Ser)
c.3610G>T (p.Ala1204Ser)
c.3023G>T (n.3023G>T)
c.3079G>T (p.Ala1027Ser)
c.3679G>T (p.Ala1227Ser)
c.3184G>T (p.Ala1062Ser)
c.3697G>T (p.Ala1233Ser)
c.3415G>T (p.Ala1139Ser)
c.3559G>T (p.Ala1187Ser)
c.3556G>T (p.Ala1186Ser)
c.3418G>T (p.Ala1140Ser)
c.3091G>T (p.Ala1031Ser)
c.3088G>T (p.Ala1030Ser)
c.3187G>T (p.Ala1063Ser)
c.*3115G>T (n.*3115G>T)
c.2106+182893G>T (n.2106+182893G>T)
n.178G>T
 gnomAD v4
3g.184327601C>ACA355415748EIF2B5,EIF4G1c.3677C>A (p.Ala1226Asp)
c.3611C>A (p.Ala1204Asp)
c.3024C>A (n.3024C>A)
c.3080C>A (p.Ala1027Asp)
c.3680C>A (p.Ala1227Asp)
c.3185C>A (p.Ala1062Asp)
c.3698C>A (p.Ala1233Asp)
c.3416C>A (p.Ala1139Asp)
c.3560C>A (p.Ala1187Asp)
c.3557C>A (p.Ala1186Asp)
c.3419C>A (p.Ala1140Asp)
c.3092C>A (p.Ala1031Asp)
c.3089C>A (p.Ala1030Asp)
c.3188C>A (p.Ala1063Asp)
c.*3116C>A (n.*3116C>A)
c.2106+182894C>A (n.2106+182894C>A)
n.179C>A
3g.184327601C>GCA355415751EIF2B5,EIF4G1c.3677C>G (p.Ala1226Gly)
c.3611C>G (p.Ala1204Gly)
c.3024C>G (n.3024C>G)
c.3080C>G (p.Ala1027Gly)
c.3680C>G (p.Ala1227Gly)
c.3185C>G (p.Ala1062Gly)
c.3698C>G (p.Ala1233Gly)
c.3416C>G (p.Ala1139Gly)
c.3560C>G (p.Ala1187Gly)
c.3557C>G (p.Ala1186Gly)
c.3419C>G (p.Ala1140Gly)
c.3092C>G (p.Ala1031Gly)
c.3089C>G (p.Ala1030Gly)
c.3188C>G (p.Ala1063Gly)
c.*3116C>G (n.*3116C>G)
c.2106+182894C>G (n.2106+182894C>G)
n.179C>G
3g.184327601C>TCA355415749EIF2B5,EIF4G1c.3677C>T (p.Ala1226Val)
c.3611C>T (p.Ala1204Val)
c.3024C>T (n.3024C>T)
c.3080C>T (p.Ala1027Val)
c.3680C>T (p.Ala1227Val)
c.3185C>T (p.Ala1062Val)
c.3698C>T (p.Ala1233Val)
c.3416C>T (p.Ala1139Val)
c.3560C>T (p.Ala1187Val)
c.3557C>T (p.Ala1186Val)
c.3419C>T (p.Ala1140Val)
c.3092C>T (p.Ala1031Val)
c.3089C>T (p.Ala1030Val)
c.3188C>T (p.Ala1063Val)
c.*3116C>T (n.*3116C>T)
c.2106+182894C>T (n.2106+182894C>T)
n.179C>T
3g.184327602C>ACA437330543EIF2B5,EIF4G1c.3678C>A (p.Ala1226=)
c.3612C>A (p.Ala1204=)
c.3025C>A (n.3025C>A)
c.3081C>A (p.Ala1027=)
c.3681C>A (p.Ala1227=)
c.3186C>A (p.Ala1062=)
c.3699C>A (p.Ala1233=)
c.3417C>A (p.Ala1139=)
c.3561C>A (p.Ala1187=)
c.3558C>A (p.Ala1186=)
c.3420C>A (p.Ala1140=)
c.3093C>A (p.Ala1031=)
c.3090C>A (p.Ala1030=)
c.3189C>A (p.Ala1063=)
c.*3117C>A (n.*3117C>A)
c.2106+182895C>A (n.2106+182895C>A)
n.180C>A
3g.184327602C=CA1425958599EIF2B5,EIF4G1c.3678C= (p.Ala1226=)
c.3612C= (p.Ala1204=)
c.3025C= (n.3025C=)
c.3081C= (p.Ala1027=)
c.3681C= (p.Ala1227=)
c.3186C= (p.Ala1062=)
c.3699C= (p.Ala1233=)
c.3417C= (p.Ala1139=)
c.3561C= (p.Ala1187=)
c.3558C= (p.Ala1186=)
c.3420C= (p.Ala1140=)
c.3093C= (p.Ala1031=)
c.3090C= (p.Ala1030=)
c.3189C= (p.Ala1063=)
c.*3117C= (n.*3117C=)
c.2106+182895C= (n.2106+182895C=)
n.180C=
3g.184327602C>GCA437330545EIF2B5,EIF4G1c.3678C>G (p.Ala1226=)
c.3612C>G (p.Ala1204=)
c.3025C>G (n.3025C>G)
c.3081C>G (p.Ala1027=)
c.3681C>G (p.Ala1227=)
c.3186C>G (p.Ala1062=)
c.3699C>G (p.Ala1233=)
c.3417C>G (p.Ala1139=)
c.3561C>G (p.Ala1187=)
c.3558C>G (p.Ala1186=)
c.3420C>G (p.Ala1140=)
c.3093C>G (p.Ala1031=)
c.3090C>G (p.Ala1030=)
c.3189C>G (p.Ala1063=)
c.*3117C>G (n.*3117C>G)
c.2106+182895C>G (n.2106+182895C>G)
n.180C>G
3g.184327602C>TCA88867849EIF2B5,EIF4G1c.3678C>T (p.Ala1226=)
c.3612C>T (p.Ala1204=)
c.3025C>T (n.3025C>T)
c.3081C>T (p.Ala1027=)
c.3681C>T (p.Ala1227=)
c.3186C>T (p.Ala1062=)
c.3699C>T (p.Ala1233=)
c.3417C>T (p.Ala1139=)
c.3561C>T (p.Ala1187=)
c.3558C>T (p.Ala1186=)
c.3420C>T (p.Ala1140=)
c.3093C>T (p.Ala1031=)
c.3090C>T (p.Ala1030=)
c.3189C>T (p.Ala1063=)
c.*3117C>T (n.*3117C>T)
c.2106+182895C>T (n.2106+182895C>T)
n.180C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.184327603C>ACA355415754EIF2B5,EIF4G1c.3679C>A (p.Leu1227Ile)
c.3613C>A (p.Leu1205Ile)
c.3026C>A (n.3026C>A)
c.3082C>A (p.Leu1028Ile)
c.3682C>A (p.Leu1228Ile)
c.3187C>A (p.Leu1063Ile)
c.3700C>A (p.Leu1234Ile)
c.3418C>A (p.Leu1140Ile)
c.3562C>A (p.Leu1188Ile)
c.3559C>A (p.Leu1187Ile)
c.3421C>A (p.Leu1141Ile)
c.3094C>A (p.Leu1032Ile)
c.3091C>A (p.Leu1031Ile)
c.3190C>A (p.Leu1064Ile)
c.*3118C>A (n.*3118C>A)
c.2106+182896C>A (n.2106+182896C>A)
n.181C>A
3g.184327603C=CA1425958600EIF2B5,EIF4G1c.3679C= (p.Leu1227=)
c.3613C= (p.Leu1205=)
c.3026C= (n.3026C=)
c.3082C= (p.Leu1028=)
c.3682C= (p.Leu1228=)
c.3187C= (p.Leu1063=)
c.3700C= (p.Leu1234=)
c.3418C= (p.Leu1140=)
c.3562C= (p.Leu1188=)
c.3559C= (p.Leu1187=)
c.3421C= (p.Leu1141=)
c.3094C= (p.Leu1032=)
c.3091C= (p.Leu1031=)
c.3190C= (p.Leu1064=)
c.*3118C= (n.*3118C=)
c.2106+182896C= (n.2106+182896C=)
n.181C=
3g.184327603C>GCA355415756EIF2B5,EIF4G1c.3679C>G (p.Leu1227Val)
c.3613C>G (p.Leu1205Val)
c.3026C>G (n.3026C>G)
c.3082C>G (p.Leu1028Val)
c.3682C>G (p.Leu1228Val)
c.3187C>G (p.Leu1063Val)
c.3700C>G (p.Leu1234Val)
c.3418C>G (p.Leu1140Val)
c.3562C>G (p.Leu1188Val)
c.3559C>G (p.Leu1187Val)
c.3421C>G (p.Leu1141Val)
c.3094C>G (p.Leu1032Val)
c.3091C>G (p.Leu1031Val)
c.3190C>G (p.Leu1064Val)
c.*3118C>G (n.*3118C>G)
c.2106+182896C>G (n.2106+182896C>G)
n.181C>G
 gnomAD v4
3g.184327603C>TCA2732890EIF2B5,EIF4G1c.3679C>T (p.Leu1227=)
c.3613C>T (p.Leu1205=)
c.3026C>T (n.3026C>T)
c.3082C>T (p.Leu1028=)
c.3682C>T (p.Leu1228=)
c.3187C>T (p.Leu1063=)
c.3700C>T (p.Leu1234=)
c.3418C>T (p.Leu1140=)
c.3562C>T (p.Leu1188=)
c.3559C>T (p.Leu1187=)
c.3421C>T (p.Leu1141=)
c.3094C>T (p.Leu1032=)
c.3091C>T (p.Leu1031=)
c.3190C>T (p.Leu1064=)
c.*3118C>T (n.*3118C>T)
c.2106+182896C>T (n.2106+182896C>T)
n.181C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.184327604T>ACA355415759EIF2B5,EIF4G1c.3680T>A (p.Leu1227Gln)
c.3614T>A (p.Leu1205Gln)
c.3027T>A (n.3027T>A)
c.3083T>A (p.Leu1028Gln)
c.3683T>A (p.Leu1228Gln)
c.3188T>A (p.Leu1063Gln)
c.3701T>A (p.Leu1234Gln)
c.3419T>A (p.Leu1140Gln)
c.3563T>A (p.Leu1188Gln)
c.3560T>A (p.Leu1187Gln)
c.3422T>A (p.Leu1141Gln)
c.3095T>A (p.Leu1032Gln)
c.3092T>A (p.Leu1031Gln)
c.3191T>A (p.Leu1064Gln)
c.*3119T>A (n.*3119T>A)
c.2106+182897T>A (n.2106+182897T>A)
n.182T>A
3g.184327604T>CCA355415761EIF2B5,EIF4G1c.3680T>C (p.Leu1227Pro)
c.3614T>C (p.Leu1205Pro)
c.3027T>C (n.3027T>C)
c.3083T>C (p.Leu1028Pro)
c.3683T>C (p.Leu1228Pro)
c.3188T>C (p.Leu1063Pro)
c.3701T>C (p.Leu1234Pro)
c.3419T>C (p.Leu1140Pro)
c.3563T>C (p.Leu1188Pro)
c.3560T>C (p.Leu1187Pro)
c.3422T>C (p.Leu1141Pro)
c.3095T>C (p.Leu1032Pro)
c.3092T>C (p.Leu1031Pro)
c.3191T>C (p.Leu1064Pro)
c.*3119T>C (n.*3119T>C)
c.2106+182897T>C (n.2106+182897T>C)
n.182T>C
3g.184327604T>GCA355415763EIF2B5,EIF4G1c.3680T>G (p.Leu1227Arg)
c.3614T>G (p.Leu1205Arg)
c.3027T>G (n.3027T>G)
c.3083T>G (p.Leu1028Arg)
c.3683T>G (p.Leu1228Arg)
c.3188T>G (p.Leu1063Arg)
c.3701T>G (p.Leu1234Arg)
c.3419T>G (p.Leu1140Arg)
c.3563T>G (p.Leu1188Arg)
c.3560T>G (p.Leu1187Arg)
c.3422T>G (p.Leu1141Arg)
c.3095T>G (p.Leu1032Arg)
c.3092T>G (p.Leu1031Arg)
c.3191T>G (p.Leu1064Arg)
c.*3119T>G (n.*3119T>G)
c.2106+182897T>G (n.2106+182897T>G)
n.182T>G
3g.184327605A=CA1425958601EIF2B5,EIF4G1c.3681A= (p.Leu1227=)
c.3615A= (p.Leu1205=)
c.3028A= (n.3028A=)
c.3084A= (p.Leu1028=)
c.3684A= (p.Leu1228=)
c.3189A= (p.Leu1063=)
c.3702A= (p.Leu1234=)
c.3420A= (p.Leu1140=)
c.3564A= (p.Leu1188=)
c.3561A= (p.Leu1187=)
c.3423A= (p.Leu1141=)
c.3096A= (p.Leu1032=)
c.3093A= (p.Leu1031=)
c.3192A= (p.Leu1064=)
c.*3120A= (n.*3120A=)
c.2106+182898A= (n.2106+182898A=)
n.183A=
3g.184327605A>CCA437330549EIF2B5,EIF4G1c.3681A>C (p.Leu1227=)
c.3615A>C (p.Leu1205=)
c.3028A>C (n.3028A>C)
c.3084A>C (p.Leu1028=)
c.3684A>C (p.Leu1228=)
c.3189A>C (p.Leu1063=)
c.3702A>C (p.Leu1234=)
c.3420A>C (p.Leu1140=)
c.3564A>C (p.Leu1188=)
c.3561A>C (p.Leu1187=)
c.3423A>C (p.Leu1141=)
c.3096A>C (p.Leu1032=)
c.3093A>C (p.Leu1031=)
c.3192A>C (p.Leu1064=)
c.*3120A>C (n.*3120A>C)
c.2106+182898A>C (n.2106+182898A>C)
n.183A>C
 dbSNP gnomAD v3 gnomAD v4
3g.184327605A>GCA437330550EIF2B5,EIF4G1c.3681A>G (p.Leu1227=)
c.3615A>G (p.Leu1205=)
c.3028A>G (n.3028A>G)
c.3084A>G (p.Leu1028=)
c.3684A>G (p.Leu1228=)
c.3189A>G (p.Leu1063=)
c.3702A>G (p.Leu1234=)
c.3420A>G (p.Leu1140=)
c.3564A>G (p.Leu1188=)
c.3561A>G (p.Leu1187=)
c.3423A>G (p.Leu1141=)
c.3096A>G (p.Leu1032=)
c.3093A>G (p.Leu1031=)
c.3192A>G (p.Leu1064=)
c.*3120A>G (n.*3120A>G)
c.2106+182898A>G (n.2106+182898A>G)
n.183A>G
3g.184327605A>TCA437330551EIF2B5,EIF4G1c.3681A>T (p.Leu1227=)
c.3615A>T (p.Leu1205=)
c.3028A>T (n.3028A>T)
c.3084A>T (p.Leu1028=)
c.3684A>T (p.Leu1228=)
c.3189A>T (p.Leu1063=)
c.3702A>T (p.Leu1234=)
c.3420A>T (p.Leu1140=)
c.3564A>T (p.Leu1188=)
c.3561A>T (p.Leu1187=)
c.3423A>T (p.Leu1141=)
c.3096A>T (p.Leu1032=)
c.3093A>T (p.Leu1031=)
c.3192A>T (p.Leu1064=)
c.*3120A>T (n.*3120A>T)
c.2106+182898A>T (n.2106+182898A>T)
n.183A>T
 dbSNP gnomAD v2 gnomAD v4
3g.184327606C>ACA88867852EIF2B5,EIF4G1c.3682C>A (p.Pro1228Thr)
c.3616C>A (p.Pro1206Thr)
c.3029C>A (n.3029C>A)
c.3085C>A (p.Pro1029Thr)
c.3685C>A (p.Pro1229Thr)
c.3190C>A (p.Pro1064Thr)
c.3703C>A (p.Pro1235Thr)
c.3421C>A (p.Pro1141Thr)
c.3565C>A (p.Pro1189Thr)
c.3562C>A (p.Pro1188Thr)
c.3424C>A (p.Pro1142Thr)
c.3097C>A (p.Pro1033Thr)
c.3094C>A (p.Pro1032Thr)
c.3193C>A (p.Pro1065Thr)
c.*3121C>A (n.*3121C>A)
c.2106+182899C>A (n.2106+182899C>A)
n.184C>A
 dbSNP gnomAD v2 gnomAD v4
3g.184327606C=CA1425958603EIF2B5,EIF4G1c.3682C= (p.Pro1228=)
c.3616C= (p.Pro1206=)
c.3029C= (n.3029C=)
c.3085C= (p.Pro1029=)
c.3685C= (p.Pro1229=)
c.3190C= (p.Pro1064=)
c.3703C= (p.Pro1235=)
c.3421C= (p.Pro1141=)
c.3565C= (p.Pro1189=)
c.3562C= (p.Pro1188=)
c.3424C= (p.Pro1142=)
c.3097C= (p.Pro1033=)
c.3094C= (p.Pro1032=)
c.3193C= (p.Pro1065=)
c.*3121C= (n.*3121C=)
c.2106+182899C= (n.2106+182899C=)
n.184C=
3g.184327606C>GCA355415766EIF2B5,EIF4G1c.3682C>G (p.Pro1228Ala)
c.3616C>G (p.Pro1206Ala)
c.3029C>G (n.3029C>G)
c.3085C>G (p.Pro1029Ala)
c.3685C>G (p.Pro1229Ala)
c.3190C>G (p.Pro1064Ala)
c.3703C>G (p.Pro1235Ala)
c.3421C>G (p.Pro1141Ala)
c.3565C>G (p.Pro1189Ala)
c.3562C>G (p.Pro1188Ala)
c.3424C>G (p.Pro1142Ala)
c.3097C>G (p.Pro1033Ala)
c.3094C>G (p.Pro1032Ala)
c.3193C>G (p.Pro1065Ala)
c.*3121C>G (n.*3121C>G)
c.2106+182899C>G (n.2106+182899C>G)
n.184C>G
 dbSNP gnomAD v2 gnomAD v4
3g.184327606C>TCA2732891EIF2B5,EIF4G1c.3682C>T (p.Pro1228Ser)
c.3616C>T (p.Pro1206Ser)
c.3029C>T (n.3029C>T)
c.3085C>T (p.Pro1029Ser)
c.3685C>T (p.Pro1229Ser)
c.3190C>T (p.Pro1064Ser)
c.3703C>T (p.Pro1235Ser)
c.3421C>T (p.Pro1141Ser)
c.3565C>T (p.Pro1189Ser)
c.3562C>T (p.Pro1188Ser)
c.3424C>T (p.Pro1142Ser)
c.3097C>T (p.Pro1033Ser)
c.3094C>T (p.Pro1032Ser)
c.3193C>T (p.Pro1065Ser)
c.*3121C>T (n.*3121C>T)
c.2106+182899C>T (n.2106+182899C>T)
n.184C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.184327610delCA437330552EIF2B5,EIF4G1c.3686del (p.Pro1229GlnfsTer2)
c.3620del (p.Pro1207GlnfsTer2)
c.3033del (n.3033del)
c.3089del (p.Pro1030GlnfsTer2)
c.3689del (p.Pro1230GlnfsTer2)
c.3194del (p.Pro1065GlnfsTer2)
c.3707del (p.Pro1236GlnfsTer2)
c.3425del (p.Pro1142GlnfsTer2)
c.3569del (p.Pro1190GlnfsTer2)
c.3566del (p.Pro1189GlnfsTer2)
c.3428del (p.Pro1143GlnfsTer2)
c.3101del (p.Pro1034GlnfsTer2)
c.3098del (p.Pro1033GlnfsTer2)
c.3197del (p.Pro1066GlnfsTer2)
c.*3125del (n.*3125del)
c.2106+182903del (n.2106+182903del)
n.188del
 COSMIC
3g.184327607C>ACA355415771EIF2B5,EIF4G1c.3683C>A (p.Pro1228His)
c.3617C>A (p.Pro1206His)
c.3030C>A (n.3030C>A)
c.3086C>A (p.Pro1029His)
c.3686C>A (p.Pro1229His)
c.3191C>A (p.Pro1064His)
c.3704C>A (p.Pro1235His)
c.3422C>A (p.Pro1141His)
c.3566C>A (p.Pro1189His)
c.3563C>A (p.Pro1188His)
c.3425C>A (p.Pro1142His)
c.3098C>A (p.Pro1033His)
c.3095C>A (p.Pro1032His)
c.3194C>A (p.Pro1065His)
c.*3122C>A (n.*3122C>A)
c.2106+182900C>A (n.2106+182900C>A)
n.185C>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.184327607C=CA1425958606EIF2B5,EIF4G1c.3683C= (p.Pro1228=)
c.3617C= (p.Pro1206=)
c.3030C= (n.3030C=)
c.3086C= (p.Pro1029=)
c.3686C= (p.Pro1229=)
c.3191C= (p.Pro1064=)
c.3704C= (p.Pro1235=)
c.3422C= (p.Pro1141=)
c.3566C= (p.Pro1189=)
c.3563C= (p.Pro1188=)
c.3425C= (p.Pro1142=)
c.3098C= (p.Pro1033=)
c.3095C= (p.Pro1032=)
c.3194C= (p.Pro1065=)
c.*3122C= (n.*3122C=)
c.2106+182900C= (n.2106+182900C=)
n.185C=
3g.184327607C>GCA355415772EIF2B5,EIF4G1c.3683C>G (p.Pro1228Arg)
c.3617C>G (p.Pro1206Arg)
c.3030C>G (n.3030C>G)
c.3086C>G (p.Pro1029Arg)
c.3686C>G (p.Pro1229Arg)
c.3191C>G (p.Pro1064Arg)
c.3704C>G (p.Pro1235Arg)
c.3422C>G (p.Pro1141Arg)
c.3566C>G (p.Pro1189Arg)
c.3563C>G (p.Pro1188Arg)
c.3425C>G (p.Pro1142Arg)
c.3098C>G (p.Pro1033Arg)
c.3095C>G (p.Pro1032Arg)
c.3194C>G (p.Pro1065Arg)
c.*3122C>G (n.*3122C>G)
c.2106+182900C>G (n.2106+182900C>G)
n.185C>G
3g.184327607C>TCA2732892EIF2B5,EIF4G1c.3683C>T (p.Pro1228Leu)
c.3617C>T (p.Pro1206Leu)
c.3030C>T (n.3030C>T)
c.3086C>T (p.Pro1029Leu)
c.3686C>T (p.Pro1229Leu)
c.3191C>T (p.Pro1064Leu)
c.3704C>T (p.Pro1235Leu)
c.3422C>T (p.Pro1141Leu)
c.3566C>T (p.Pro1189Leu)
c.3563C>T (p.Pro1188Leu)
c.3425C>T (p.Pro1142Leu)
c.3098C>T (p.Pro1033Leu)
c.3095C>T (p.Pro1032Leu)
c.3194C>T (p.Pro1065Leu)
c.*3122C>T (n.*3122C>T)
c.2106+182900C>T (n.2106+182900C>T)
n.185C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.184327608C>ACA437330554EIF2B5,EIF4G1c.3684C>A (p.Pro1228=)
c.3618C>A (p.Pro1206=)
c.3031C>A (n.3031C>A)
c.3087C>A (p.Pro1029=)
c.3687C>A (p.Pro1229=)
c.3192C>A (p.Pro1064=)
c.3705C>A (p.Pro1235=)
c.3423C>A (p.Pro1141=)
c.3567C>A (p.Pro1189=)
c.3564C>A (p.Pro1188=)
c.3426C>A (p.Pro1142=)
c.3099C>A (p.Pro1033=)
c.3096C>A (p.Pro1032=)
c.3195C>A (p.Pro1065=)
c.*3123C>A (n.*3123C>A)
c.2106+182901C>A (n.2106+182901C>A)
n.186C>A
3g.184327608C>GCA437330555EIF2B5,EIF4G1c.3684C>G (p.Pro1228=)
c.3618C>G (p.Pro1206=)
c.3031C>G (n.3031C>G)
c.3087C>G (p.Pro1029=)
c.3687C>G (p.Pro1229=)
c.3192C>G (p.Pro1064=)
c.3705C>G (p.Pro1235=)
c.3423C>G (p.Pro1141=)
c.3567C>G (p.Pro1189=)
c.3564C>G (p.Pro1188=)
c.3426C>G (p.Pro1142=)
c.3099C>G (p.Pro1033=)
c.3096C>G (p.Pro1032=)
c.3195C>G (p.Pro1065=)
c.*3123C>G (n.*3123C>G)
c.2106+182901C>G (n.2106+182901C>G)
n.186C>G
3g.184327608C>TCA437330556EIF2B5,EIF4G1c.3684C>T (p.Pro1228=)
c.3618C>T (p.Pro1206=)
c.3031C>T (n.3031C>T)
c.3087C>T (p.Pro1029=)
c.3687C>T (p.Pro1229=)
c.3192C>T (p.Pro1064=)
c.3705C>T (p.Pro1235=)
c.3423C>T (p.Pro1141=)
c.3567C>T (p.Pro1189=)
c.3564C>T (p.Pro1188=)
c.3426C>T (p.Pro1142=)
c.3099C>T (p.Pro1033=)
c.3096C>T (p.Pro1032=)
c.3195C>T (p.Pro1065=)
c.*3123C>T (n.*3123C>T)
c.2106+182901C>T (n.2106+182901C>T)
n.186C>T
3g.184327609C>ACA88867878EIF2B5,EIF4G1c.3685C>A (p.Pro1229Thr)
c.3619C>A (p.Pro1207Thr)
c.3032C>A (n.3032C>A)
c.3088C>A (p.Pro1030Thr)
c.3688C>A (p.Pro1230Thr)
c.3193C>A (p.Pro1065Thr)
c.3706C>A (p.Pro1236Thr)
c.3424C>A (p.Pro1142Thr)
c.3568C>A (p.Pro1190Thr)
c.3565C>A (p.Pro1189Thr)
c.3427C>A (p.Pro1143Thr)
c.3100C>A (p.Pro1034Thr)
c.3097C>A (p.Pro1033Thr)
c.3196C>A (p.Pro1066Thr)
c.*3124C>A (n.*3124C>A)
c.2106+182902C>A (n.2106+182902C>A)
n.187C>A
 dbSNP gnomAD v2 gnomAD v4
3g.184327609C=CA1425958607EIF2B5,EIF4G1c.3685C= (p.Pro1229=)
c.3619C= (p.Pro1207=)
c.3032C= (n.3032C=)
c.3088C= (p.Pro1030=)
c.3688C= (p.Pro1230=)
c.3193C= (p.Pro1065=)
c.3706C= (p.Pro1236=)
c.3424C= (p.Pro1142=)
c.3568C= (p.Pro1190=)
c.3565C= (p.Pro1189=)
c.3427C= (p.Pro1143=)
c.3100C= (p.Pro1034=)
c.3097C= (p.Pro1033=)
c.3196C= (p.Pro1066=)
c.*3124C= (n.*3124C=)
c.2106+182902C= (n.2106+182902C=)
n.187C=
3g.184327609C>GCA2732893EIF2B5,EIF4G1c.3685C>G (p.Pro1229Ala)
c.3619C>G (p.Pro1207Ala)
c.3032C>G (n.3032C>G)
c.3088C>G (p.Pro1030Ala)
c.3688C>G (p.Pro1230Ala)
c.3193C>G (p.Pro1065Ala)
c.3706C>G (p.Pro1236Ala)
c.3424C>G (p.Pro1142Ala)
c.3568C>G (p.Pro1190Ala)
c.3565C>G (p.Pro1189Ala)
c.3427C>G (p.Pro1143Ala)
c.3100C>G (p.Pro1034Ala)
c.3097C>G (p.Pro1033Ala)
c.3196C>G (p.Pro1066Ala)
c.*3124C>G (n.*3124C>G)
c.2106+182902C>G (n.2106+182902C>G)
n.187C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.184327609C>TCA2732894EIF2B5,EIF4G1c.3685C>T (p.Pro1229Ser)
c.3619C>T (p.Pro1207Ser)
c.3032C>T (n.3032C>T)
c.3088C>T (p.Pro1030Ser)
c.3688C>T (p.Pro1230Ser)
c.3193C>T (p.Pro1065Ser)
c.3706C>T (p.Pro1236Ser)
c.3424C>T (p.Pro1142Ser)
c.3568C>T (p.Pro1190Ser)
c.3565C>T (p.Pro1189Ser)
c.3427C>T (p.Pro1143Ser)
c.3100C>T (p.Pro1034Ser)
c.3097C>T (p.Pro1033Ser)
c.3196C>T (p.Pro1066Ser)
c.*3124C>T (n.*3124C>T)
c.2106+182902C>T (n.2106+182902C>T)
n.187C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.184327610C>ACA355415785EIF2B5,EIF4G1c.3686C>A (p.Pro1229Gln)
c.3620C>A (p.Pro1207Gln)
c.3033C>A (n.3033C>A)
c.3089C>A (p.Pro1030Gln)
c.3689C>A (p.Pro1230Gln)
c.3194C>A (p.Pro1065Gln)
c.3707C>A (p.Pro1236Gln)
c.3425C>A (p.Pro1142Gln)
c.3569C>A (p.Pro1190Gln)
c.3566C>A (p.Pro1189Gln)
c.3428C>A (p.Pro1143Gln)
c.3101C>A (p.Pro1034Gln)
c.3098C>A (p.Pro1033Gln)
c.3197C>A (p.Pro1066Gln)
c.*3125C>A (n.*3125C>A)
c.2106+182903C>A (n.2106+182903C>A)
n.188C>A
3g.184327610C=CA1425958608EIF2B5,EIF4G1c.3686C= (p.Pro1229=)
c.3620C= (p.Pro1207=)
c.3033C= (n.3033C=)
c.3089C= (p.Pro1030=)
c.3689C= (p.Pro1230=)
c.3194C= (p.Pro1065=)
c.3707C= (p.Pro1236=)
c.3425C= (p.Pro1142=)
c.3569C= (p.Pro1190=)
c.3566C= (p.Pro1189=)
c.3428C= (p.Pro1143=)
c.3101C= (p.Pro1034=)
c.3098C= (p.Pro1033=)
c.3197C= (p.Pro1066=)
c.*3125C= (n.*3125C=)
c.2106+182903C= (n.2106+182903C=)
n.188C=
3g.184327610C>GCA355415790EIF2B5,EIF4G1c.3686C>G (p.Pro1229Arg)
c.3620C>G (p.Pro1207Arg)
c.3033C>G (n.3033C>G)
c.3089C>G (p.Pro1030Arg)
c.3689C>G (p.Pro1230Arg)
c.3194C>G (p.Pro1065Arg)
c.3707C>G (p.Pro1236Arg)
c.3425C>G (p.Pro1142Arg)
c.3569C>G (p.Pro1190Arg)
c.3566C>G (p.Pro1189Arg)
c.3428C>G (p.Pro1143Arg)
c.3101C>G (p.Pro1034Arg)
c.3098C>G (p.Pro1033Arg)
c.3197C>G (p.Pro1066Arg)
c.*3125C>G (n.*3125C>G)
c.2106+182903C>G (n.2106+182903C>G)
n.188C>G
3g.184327610C>TCA355415789EIF2B5,EIF4G1c.3686C>T (p.Pro1229Leu)
c.3620C>T (p.Pro1207Leu)
c.3033C>T (n.3033C>T)
c.3089C>T (p.Pro1030Leu)
c.3689C>T (p.Pro1230Leu)
c.3194C>T (p.Pro1065Leu)
c.3707C>T (p.Pro1236Leu)
c.3425C>T (p.Pro1142Leu)
c.3569C>T (p.Pro1190Leu)
c.3566C>T (p.Pro1189Leu)
c.3428C>T (p.Pro1143Leu)
c.3101C>T (p.Pro1034Leu)
c.3098C>T (p.Pro1033Leu)
c.3197C>T (p.Pro1066Leu)
c.*3125C>T (n.*3125C>T)
c.2106+182903C>T (n.2106+182903C>T)
n.188C>T
 dbSNP
3g.184327611A>CCA437330558EIF2B5,EIF4G1c.3687A>C (p.Pro1229=)
c.3621A>C (p.Pro1207=)
c.3034A>C (n.3034A>C)
c.3090A>C (p.Pro1030=)
c.3690A>C (p.Pro1230=)
c.3195A>C (p.Pro1065=)
c.3708A>C (p.Pro1236=)
c.3426A>C (p.Pro1142=)
c.3570A>C (p.Pro1190=)
c.3567A>C (p.Pro1189=)
c.3429A>C (p.Pro1143=)
c.3102A>C (p.Pro1034=)
c.3099A>C (p.Pro1033=)
c.3198A>C (p.Pro1066=)
c.*3126A>C (n.*3126A>C)
c.2106+182904A>C (n.2106+182904A>C)
n.189A>C
3g.184327611A>GCA437330559EIF2B5,EIF4G1c.3687A>G (p.Pro1229=)
c.3621A>G (p.Pro1207=)
c.3034A>G (n.3034A>G)
c.3090A>G (p.Pro1030=)
c.3690A>G (p.Pro1230=)
c.3195A>G (p.Pro1065=)
c.3708A>G (p.Pro1236=)
c.3426A>G (p.Pro1142=)
c.3570A>G (p.Pro1190=)
c.3567A>G (p.Pro1189=)
c.3429A>G (p.Pro1143=)
c.3102A>G (p.Pro1034=)
c.3099A>G (p.Pro1033=)
c.3198A>G (p.Pro1066=)
c.*3126A>G (n.*3126A>G)
c.2106+182904A>G (n.2106+182904A>G)
n.189A>G
3g.184327611A>TCA437330560EIF2B5,EIF4G1c.3687A>T (p.Pro1229=)
c.3621A>T (p.Pro1207=)
c.3034A>T (n.3034A>T)
c.3090A>T (p.Pro1030=)
c.3690A>T (p.Pro1230=)
c.3195A>T (p.Pro1065=)
c.3708A>T (p.Pro1236=)
c.3426A>T (p.Pro1142=)
c.3570A>T (p.Pro1190=)
c.3567A>T (p.Pro1189=)
c.3429A>T (p.Pro1143=)
c.3102A>T (p.Pro1034=)
c.3099A>T (p.Pro1033=)
c.3198A>T (p.Pro1066=)
c.*3126A>T (n.*3126A>T)
c.2106+182904A>T (n.2106+182904A>T)
n.189A>T
3g.184327612G>ACA355415794EIF2B5,EIF4G1c.3688G>A (p.Val1230Met)
c.3622G>A (p.Val1208Met)
c.3035G>A (n.3035G>A)
c.3091G>A (p.Val1031Met)
c.3691G>A (p.Val1231Met)
c.3196G>A (p.Val1066Met)
c.3709G>A (p.Val1237Met)
c.3427G>A (p.Val1143Met)
c.3571G>A (p.Val1191Met)
c.3568G>A (p.Val1190Met)
c.3430G>A (p.Val1144Met)
c.3103G>A (p.Val1035Met)
c.3100G>A (p.Val1034Met)
c.3199G>A (p.Val1067Met)
c.*3127G>A (n.*3127G>A)
c.2106+182905G>A (n.2106+182905G>A)
n.190G>A
 dbSNP
3g.184327612G>CCA355415797EIF2B5,EIF4G1c.3688G>C (p.Val1230Leu)
c.3622G>C (p.Val1208Leu)
c.3035G>C (n.3035G>C)
c.3091G>C (p.Val1031Leu)
c.3691G>C (p.Val1231Leu)
c.3196G>C (p.Val1066Leu)
c.3709G>C (p.Val1237Leu)
c.3427G>C (p.Val1143Leu)
c.3571G>C (p.Val1191Leu)
c.3568G>C (p.Val1190Leu)
c.3430G>C (p.Val1144Leu)
c.3103G>C (p.Val1035Leu)
c.3100G>C (p.Val1034Leu)
c.3199G>C (p.Val1067Leu)
c.*3127G>C (n.*3127G>C)
c.2106+182905G>C (n.2106+182905G>C)
n.190G>C
 gnomAD v4
3g.184327612G=CA1425958609EIF2B5,EIF4G1c.3688G= (p.Val1230=)
c.3622G= (p.Val1208=)
c.3035G= (n.3035G=)
c.3091G= (p.Val1031=)
c.3691G= (p.Val1231=)
c.3196G= (p.Val1066=)
c.3709G= (p.Val1237=)
c.3427G= (p.Val1143=)
c.3571G= (p.Val1191=)
c.3568G= (p.Val1190=)
c.3430G= (p.Val1144=)
c.3103G= (p.Val1035=)
c.3100G= (p.Val1034=)
c.3199G= (p.Val1067=)
c.*3127G= (n.*3127G=)
c.2106+182905G= (n.2106+182905G=)
n.190G=
3g.184327612G>TCA355415799EIF2B5,EIF4G1c.3688G>T (p.Val1230Leu)
c.3622G>T (p.Val1208Leu)
c.3035G>T (n.3035G>T)
c.3091G>T (p.Val1031Leu)
c.3691G>T (p.Val1231Leu)
c.3196G>T (p.Val1066Leu)
c.3709G>T (p.Val1237Leu)
c.3427G>T (p.Val1143Leu)
c.3571G>T (p.Val1191Leu)
c.3568G>T (p.Val1190Leu)
c.3430G>T (p.Val1144Leu)
c.3103G>T (p.Val1035Leu)
c.3100G>T (p.Val1034Leu)
c.3199G>T (p.Val1067Leu)
c.*3127G>T (n.*3127G>T)
c.2106+182905G>T (n.2106+182905G>T)
n.190G>T
3g.184327613T>ACA355415802EIF2B5,EIF4G1c.3689T>A (p.Val1230Glu)
c.3623T>A (p.Val1208Glu)
c.3036T>A (n.3036T>A)
c.3092T>A (p.Val1031Glu)
c.3692T>A (p.Val1231Glu)
c.3197T>A (p.Val1066Glu)
c.3710T>A (p.Val1237Glu)
c.3428T>A (p.Val1143Glu)
c.3572T>A (p.Val1191Glu)
c.3569T>A (p.Val1190Glu)
c.3431T>A (p.Val1144Glu)
c.3104T>A (p.Val1035Glu)
c.3101T>A (p.Val1034Glu)
c.3200T>A (p.Val1067Glu)
c.*3128T>A (n.*3128T>A)
c.2106+182906T>A (n.2106+182906T>A)
n.191T>A
3g.184327613T>CCA2732895EIF2B5,EIF4G1c.3689T>C (p.Val1230Ala)
c.3623T>C (p.Val1208Ala)
c.3036T>C (n.3036T>C)
c.3092T>C (p.Val1031Ala)
c.3692T>C (p.Val1231Ala)
c.3197T>C (p.Val1066Ala)
c.3710T>C (p.Val1237Ala)
c.3428T>C (p.Val1143Ala)
c.3572T>C (p.Val1191Ala)
c.3569T>C (p.Val1190Ala)
c.3431T>C (p.Val1144Ala)
c.3104T>C (p.Val1035Ala)
c.3101T>C (p.Val1034Ala)
c.3200T>C (p.Val1067Ala)
c.*3128T>C (n.*3128T>C)
c.2106+182906T>C (n.2106+182906T>C)
n.191T>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.184327613T>GCA355415803EIF2B5,EIF4G1c.3689T>G (p.Val1230Gly)
c.3623T>G (p.Val1208Gly)
c.3036T>G (n.3036T>G)
c.3092T>G (p.Val1031Gly)
c.3692T>G (p.Val1231Gly)
c.3197T>G (p.Val1066Gly)
c.3710T>G (p.Val1237Gly)
c.3428T>G (p.Val1143Gly)
c.3572T>G (p.Val1191Gly)
c.3569T>G (p.Val1190Gly)
c.3431T>G (p.Val1144Gly)
c.3104T>G (p.Val1035Gly)
c.3101T>G (p.Val1034Gly)
c.3200T>G (p.Val1067Gly)
c.*3128T>G (n.*3128T>G)
c.2106+182906T>G (n.2106+182906T>G)
n.191T>G
3g.184327613T=CA1425958610EIF2B5,EIF4G1c.3689T= (p.Val1230=)
c.3623T= (p.Val1208=)
c.3036T= (n.3036T=)
c.3092T= (p.Val1031=)
c.3692T= (p.Val1231=)
c.3197T= (p.Val1066=)
c.3710T= (p.Val1237=)
c.3428T= (p.Val1143=)
c.3572T= (p.Val1191=)
c.3569T= (p.Val1190=)
c.3431T= (p.Val1144=)
c.3104T= (p.Val1035=)
c.3101T= (p.Val1034=)
c.3200T= (p.Val1067=)
c.*3128T= (n.*3128T=)
c.2106+182906T= (n.2106+182906T=)
n.191T=
3g.184327614G>ACA437330562EIF2B5,EIF4G1c.3690G>A (p.Val1230=)
c.3624G>A (p.Val1208=)
c.3037G>A (n.3037G>A)
c.3093G>A (p.Val1031=)
c.3693G>A (p.Val1231=)
c.3198G>A (p.Val1066=)
c.3711G>A (p.Val1237=)
c.3429G>A (p.Val1143=)
c.3573G>A (p.Val1191=)
c.3570G>A (p.Val1190=)
c.3432G>A (p.Val1144=)
c.3105G>A (p.Val1035=)
c.3102G>A (p.Val1034=)
c.3201G>A (p.Val1067=)
c.*3129G>A (n.*3129G>A)
c.2106+182907G>A (n.2106+182907G>A)
n.192G>A
 dbSNP gnomAD v4
3g.184327614G>CCA437330563EIF2B5,EIF4G1c.3690G>C (p.Val1230=)
c.3624G>C (p.Val1208=)
c.3037G>C (n.3037G>C)
c.3093G>C (p.Val1031=)
c.3693G>C (p.Val1231=)
c.3198G>C (p.Val1066=)
c.3711G>C (p.Val1237=)
c.3429G>C (p.Val1143=)
c.3573G>C (p.Val1191=)
c.3570G>C (p.Val1190=)
c.3432G>C (p.Val1144=)
c.3105G>C (p.Val1035=)
c.3102G>C (p.Val1034=)
c.3201G>C (p.Val1067=)
c.*3129G>C (n.*3129G>C)
c.2106+182907G>C (n.2106+182907G>C)
n.192G>C
3g.184327614G=CA1425958612EIF2B5,EIF4G1c.3690G= (p.Val1230=)
c.3624G= (p.Val1208=)
c.3037G= (n.3037G=)
c.3093G= (p.Val1031=)
c.3693G= (p.Val1231=)
c.3198G= (p.Val1066=)
c.3711G= (p.Val1237=)
c.3429G= (p.Val1143=)
c.3573G= (p.Val1191=)
c.3570G= (p.Val1190=)
c.3432G= (p.Val1144=)
c.3105G= (p.Val1035=)
c.3102G= (p.Val1034=)
c.3201G= (p.Val1067=)
c.*3129G= (n.*3129G=)
c.2106+182907G= (n.2106+182907G=)
n.192G=
3g.184327614G>TCA437330564EIF2B5,EIF4G1c.3690G>T (p.Val1230=)
c.3624G>T (p.Val1208=)
c.3037G>T (n.3037G>T)
c.3093G>T (p.Val1031=)
c.3693G>T (p.Val1231=)
c.3198G>T (p.Val1066=)
c.3711G>T (p.Val1237=)
c.3429G>T (p.Val1143=)
c.3573G>T (p.Val1191=)
c.3570G>T (p.Val1190=)
c.3432G>T (p.Val1144=)
c.3105G>T (p.Val1035=)
c.3102G>T (p.Val1034=)
c.3201G>T (p.Val1067=)
c.*3129G>T (n.*3129G>T)
c.2106+182907G>T (n.2106+182907G>T)
n.192G>T
3g.184327615A>CCA355415804EIF2B5,EIF4G1c.3691A>C (p.Ser1231Arg)
c.3625A>C (p.Ser1209Arg)
c.3038A>C (n.3038A>C)
c.3094A>C (p.Ser1032Arg)
c.3694A>C (p.Ser1232Arg)
c.3199A>C (p.Ser1067Arg)
c.3712A>C (p.Ser1238Arg)
c.3430A>C (p.Ser1144Arg)
c.3574A>C (p.Ser1192Arg)
c.3571A>C (p.Ser1191Arg)
c.3433A>C (p.Ser1145Arg)
c.3106A>C (p.Ser1036Arg)
c.3103A>C (p.Ser1035Arg)
c.3202A>C (p.Ser1068Arg)
c.*3130A>C (n.*3130A>C)
c.2106+182908A>C (n.2106+182908A>C)
n.193A>C
3g.184327615A>GCA355415806EIF2B5,EIF4G1c.3691A>G (p.Ser1231Gly)
c.3625A>G (p.Ser1209Gly)
c.3038A>G (n.3038A>G)
c.3094A>G (p.Ser1032Gly)
c.3694A>G (p.Ser1232Gly)
c.3199A>G (p.Ser1067Gly)
c.3712A>G (p.Ser1238Gly)
c.3430A>G (p.Ser1144Gly)
c.3574A>G (p.Ser1192Gly)
c.3571A>G (p.Ser1191Gly)
c.3433A>G (p.Ser1145Gly)
c.3106A>G (p.Ser1036Gly)
c.3103A>G (p.Ser1035Gly)
c.3202A>G (p.Ser1068Gly)
c.*3130A>G (n.*3130A>G)
c.2106+182908A>G (n.2106+182908A>G)
n.193A>G
3g.184327615A>TCA355415808EIF2B5,EIF4G1c.3691A>T (p.Ser1231Cys)
c.3625A>T (p.Ser1209Cys)
c.3038A>T (n.3038A>T)
c.3094A>T (p.Ser1032Cys)
c.3694A>T (p.Ser1232Cys)
c.3199A>T (p.Ser1067Cys)
c.3712A>T (p.Ser1238Cys)
c.3430A>T (p.Ser1144Cys)
c.3574A>T (p.Ser1192Cys)
c.3571A>T (p.Ser1191Cys)
c.3433A>T (p.Ser1145Cys)
c.3106A>T (p.Ser1036Cys)
c.3103A>T (p.Ser1035Cys)
c.3202A>T (p.Ser1068Cys)
c.*3130A>T (n.*3130A>T)
c.2106+182908A>T (n.2106+182908A>T)
n.193A>T
3g.184327616G>ACA355415814EIF2B5,EIF4G1c.3692G>A (p.Ser1231Asn)
c.3626G>A (p.Ser1209Asn)
c.3039G>A (n.3039G>A)
c.3095G>A (p.Ser1032Asn)
c.3695G>A (p.Ser1232Asn)
c.3200G>A (p.Ser1067Asn)
c.3713G>A (p.Ser1238Asn)
c.3431G>A (p.Ser1144Asn)
c.3575G>A (p.Ser1192Asn)
c.3572G>A (p.Ser1191Asn)
c.3434G>A (p.Ser1145Asn)
c.3107G>A (p.Ser1036Asn)
c.3104G>A (p.Ser1035Asn)
c.3203G>A (p.Ser1068Asn)
c.*3131G>A (n.*3131G>A)
c.2106+182909G>A (n.2106+182909G>A)
n.194G>A
3g.184327616G>CCA355415816EIF2B5,EIF4G1c.3692G>C (p.Ser1231Thr)
c.3626G>C (p.Ser1209Thr)
c.3039G>C (n.3039G>C)
c.3095G>C (p.Ser1032Thr)
c.3695G>C (p.Ser1232Thr)
c.3200G>C (p.Ser1067Thr)
c.3713G>C (p.Ser1238Thr)
c.3431G>C (p.Ser1144Thr)
c.3575G>C (p.Ser1192Thr)
c.3572G>C (p.Ser1191Thr)
c.3434G>C (p.Ser1145Thr)
c.3107G>C (p.Ser1036Thr)
c.3104G>C (p.Ser1035Thr)
c.3203G>C (p.Ser1068Thr)
c.*3131G>C (n.*3131G>C)
c.2106+182909G>C (n.2106+182909G>C)
n.194G>C
 gnomAD v4
3g.184327616G>TCA355415811EIF2B5,EIF4G1c.3692G>T (p.Ser1231Ile)
c.3626G>T (p.Ser1209Ile)
c.3039G>T (n.3039G>T)
c.3095G>T (p.Ser1032Ile)
c.3695G>T (p.Ser1232Ile)
c.3200G>T (p.Ser1067Ile)
c.3713G>T (p.Ser1238Ile)
c.3431G>T (p.Ser1144Ile)
c.3575G>T (p.Ser1192Ile)
c.3572G>T (p.Ser1191Ile)
c.3434G>T (p.Ser1145Ile)
c.3107G>T (p.Ser1036Ile)
c.3104G>T (p.Ser1035Ile)
c.3203G>T (p.Ser1068Ile)
c.*3131G>T (n.*3131G>T)
c.2106+182909G>T (n.2106+182909G>T)
n.194G>T
3g.184327617C>ACA355415819EIF2B5,EIF4G1c.3693C>A (p.Ser1231Arg)
c.3627C>A (p.Ser1209Arg)
c.3040C>A (n.3040C>A)
c.3096C>A (p.Ser1032Arg)
c.3696C>A (p.Ser1232Arg)
c.3201C>A (p.Ser1067Arg)
c.3714C>A (p.Ser1238Arg)
c.3432C>A (p.Ser1144Arg)
c.3576C>A (p.Ser1192Arg)
c.3573C>A (p.Ser1191Arg)
c.3435C>A (p.Ser1145Arg)
c.3108C>A (p.Ser1036Arg)
c.3105C>A (p.Ser1035Arg)
c.3204C>A (p.Ser1068Arg)
c.*3132C>A (n.*3132C>A)
c.2106+182910C>A (n.2106+182910C>A)
n.195C>A
3g.184327617C=CA1425958616EIF2B5,EIF4G1c.3693C= (p.Ser1231=)
c.3627C= (p.Ser1209=)
c.3040C= (n.3040C=)
c.3096C= (p.Ser1032=)
c.3696C= (p.Ser1232=)
c.3201C= (p.Ser1067=)
c.3714C= (p.Ser1238=)
c.3432C= (p.Ser1144=)
c.3576C= (p.Ser1192=)
c.3573C= (p.Ser1191=)
c.3435C= (p.Ser1145=)
c.3108C= (p.Ser1036=)
c.3105C= (p.Ser1035=)
c.3204C= (p.Ser1068=)
c.*3132C= (n.*3132C=)
c.2106+182910C= (n.2106+182910C=)
n.195C=
3g.184327617C>GCA355415822EIF2B5,EIF4G1c.3693C>G (p.Ser1231Arg)
c.3627C>G (p.Ser1209Arg)
c.3040C>G (n.3040C>G)
c.3096C>G (p.Ser1032Arg)
c.3696C>G (p.Ser1232Arg)
c.3201C>G (p.Ser1067Arg)
c.3714C>G (p.Ser1238Arg)
c.3432C>G (p.Ser1144Arg)
c.3576C>G (p.Ser1192Arg)
c.3573C>G (p.Ser1191Arg)
c.3435C>G (p.Ser1145Arg)
c.3108C>G (p.Ser1036Arg)
c.3105C>G (p.Ser1035Arg)
c.3204C>G (p.Ser1068Arg)
c.*3132C>G (n.*3132C>G)
c.2106+182910C>G (n.2106+182910C>G)
n.195C>G
 dbSNP gnomAD v4
3g.184327617C>TCA437330566EIF2B5,EIF4G1c.3693C>T (p.Ser1231=)
c.3627C>T (p.Ser1209=)
c.3040C>T (n.3040C>T)
c.3096C>T (p.Ser1032=)
c.3696C>T (p.Ser1232=)
c.3201C>T (p.Ser1067=)
c.3714C>T (p.Ser1238=)
c.3432C>T (p.Ser1144=)
c.3576C>T (p.Ser1192=)
c.3573C>T (p.Ser1191=)
c.3435C>T (p.Ser1145=)
c.3108C>T (p.Ser1036=)
c.3105C>T (p.Ser1035=)
c.3204C>T (p.Ser1068=)
c.*3132C>T (n.*3132C>T)
c.2106+182910C>T (n.2106+182910C>T)
n.195C>T
 dbSNP gnomAD v3 gnomAD v4
3g.184327618C>ACA355415826EIF2B5,EIF4G1c.3694C>A (p.Pro1232Thr)
c.3628C>A (p.Pro1210Thr)
c.3041C>A (n.3041C>A)
c.3097C>A (p.Pro1033Thr)
c.3697C>A (p.Pro1233Thr)
c.3202C>A (p.Pro1068Thr)
c.3715C>A (p.Pro1239Thr)
c.3433C>A (p.Pro1145Thr)
c.3577C>A (p.Pro1193Thr)
c.3574C>A (p.Pro1192Thr)
c.3436C>A (p.Pro1146Thr)
c.3109C>A (p.Pro1037Thr)
c.3106C>A (p.Pro1036Thr)
c.3205C>A (p.Pro1069Thr)
c.*3133C>A (n.*3133C>A)
c.2106+182911C>A (n.2106+182911C>A)
n.196C>A
3g.184327618C=CA1425958619EIF2B5,EIF4G1c.3694C= (p.Pro1232=)
c.3628C= (p.Pro1210=)
c.3041C= (n.3041C=)
c.3097C= (p.Pro1033=)
c.3697C= (p.Pro1233=)
c.3202C= (p.Pro1068=)
c.3715C= (p.Pro1239=)
c.3433C= (p.Pro1145=)
c.3577C= (p.Pro1193=)
c.3574C= (p.Pro1192=)
c.3436C= (p.Pro1146=)
c.3109C= (p.Pro1037=)
c.3106C= (p.Pro1036=)
c.3205C= (p.Pro1069=)
c.*3133C= (n.*3133C=)
c.2106+182911C= (n.2106+182911C=)
n.196C=
3g.184327618C>GCA2732896EIF2B5,EIF4G1c.3694C>G (p.Pro1232Ala)
c.3628C>G (p.Pro1210Ala)
c.3041C>G (n.3041C>G)
c.3097C>G (p.Pro1033Ala)
c.3697C>G (p.Pro1233Ala)
c.3202C>G (p.Pro1068Ala)
c.3715C>G (p.Pro1239Ala)
c.3433C>G (p.Pro1145Ala)
c.3577C>G (p.Pro1193Ala)
c.3574C>G (p.Pro1192Ala)
c.3436C>G (p.Pro1146Ala)
c.3109C>G (p.Pro1037Ala)
c.3106C>G (p.Pro1036Ala)
c.3205C>G (p.Pro1069Ala)
c.*3133C>G (n.*3133C>G)
c.2106+182911C>G (n.2106+182911C>G)
n.196C>G
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.184327618C>TCA355415832EIF2B5,EIF4G1c.3694C>T (p.Pro1232Ser)
c.3628C>T (p.Pro1210Ser)
c.3041C>T (n.3041C>T)
c.3097C>T (p.Pro1033Ser)
c.3697C>T (p.Pro1233Ser)
c.3202C>T (p.Pro1068Ser)
c.3715C>T (p.Pro1239Ser)
c.3433C>T (p.Pro1145Ser)
c.3577C>T (p.Pro1193Ser)
c.3574C>T (p.Pro1192Ser)
c.3436C>T (p.Pro1146Ser)
c.3109C>T (p.Pro1037Ser)
c.3106C>T (p.Pro1036Ser)
c.3205C>T (p.Pro1069Ser)
c.*3133C>T (n.*3133C>T)
c.2106+182911C>T (n.2106+182911C>T)
n.196C>T
 gnomAD v3 gnomAD v4
3g.184327619C>ACA355415835EIF2B5,EIF4G1c.3695C>A (p.Pro1232His)
c.3629C>A (p.Pro1210His)
c.3042C>A (n.3042C>A)
c.3098C>A (p.Pro1033His)
c.3698C>A (p.Pro1233His)
c.3203C>A (p.Pro1068His)
c.3716C>A (p.Pro1239His)
c.3434C>A (p.Pro1145His)
c.3578C>A (p.Pro1193His)
c.3575C>A (p.Pro1192His)
c.3437C>A (p.Pro1146His)
c.3110C>A (p.Pro1037His)
c.3107C>A (p.Pro1036His)
c.3206C>A (p.Pro1069His)
c.*3134C>A (n.*3134C>A)
c.2106+182912C>A (n.2106+182912C>A)
n.197C>A
3g.184327619C>GCA355415839EIF2B5,EIF4G1c.3695C>G (p.Pro1232Arg)
c.3629C>G (p.Pro1210Arg)
c.3042C>G (n.3042C>G)
c.3098C>G (p.Pro1033Arg)
c.3698C>G (p.Pro1233Arg)
c.3203C>G (p.Pro1068Arg)
c.3716C>G (p.Pro1239Arg)
c.3434C>G (p.Pro1145Arg)
c.3578C>G (p.Pro1193Arg)
c.3575C>G (p.Pro1192Arg)
c.3437C>G (p.Pro1146Arg)
c.3110C>G (p.Pro1037Arg)
c.3107C>G (p.Pro1036Arg)
c.3206C>G (p.Pro1069Arg)
c.*3134C>G (n.*3134C>G)
c.2106+182912C>G (n.2106+182912C>G)
n.197C>G
3g.184327619C>TCA355415842EIF2B5,EIF4G1c.3695C>T (p.Pro1232Leu)
c.3629C>T (p.Pro1210Leu)
c.3042C>T (n.3042C>T)
c.3098C>T (p.Pro1033Leu)
c.3698C>T (p.Pro1233Leu)
c.3203C>T (p.Pro1068Leu)
c.3716C>T (p.Pro1239Leu)
c.3434C>T (p.Pro1145Leu)
c.3578C>T (p.Pro1193Leu)
c.3575C>T (p.Pro1192Leu)
c.3437C>T (p.Pro1146Leu)
c.3110C>T (p.Pro1037Leu)
c.3107C>T (p.Pro1036Leu)
c.3206C>T (p.Pro1069Leu)
c.*3134C>T (n.*3134C>T)
c.2106+182912C>T (n.2106+182912C>T)
n.197C>T
 gnomAD v4
3g.184327620C>ACA437330567EIF2B5,EIF4G1c.3696C>A (p.Pro1232=)
c.3630C>A (p.Pro1210=)
c.3043C>A (n.3043C>A)
c.3099C>A (p.Pro1033=)
c.3699C>A (p.Pro1233=)
c.3204C>A (p.Pro1068=)
c.3717C>A (p.Pro1239=)
c.3435C>A (p.Pro1145=)
c.3579C>A (p.Pro1193=)
c.3576C>A (p.Pro1192=)
c.3438C>A (p.Pro1146=)
c.3111C>A (p.Pro1037=)
c.3108C>A (p.Pro1036=)
c.3207C>A (p.Pro1069=)
c.*3135C>A (n.*3135C>A)
c.2106+182913C>A (n.2106+182913C>A)
n.198C>A
3g.184327620C=CA1425958622EIF2B5,EIF4G1c.3696C= (p.Pro1232=)
c.3630C= (p.Pro1210=)
c.3043C= (n.3043C=)
c.3099C= (p.Pro1033=)
c.3699C= (p.Pro1233=)
c.3204C= (p.Pro1068=)
c.3717C= (p.Pro1239=)
c.3435C= (p.Pro1145=)
c.3579C= (p.Pro1193=)
c.3576C= (p.Pro1192=)
c.3438C= (p.Pro1146=)
c.3111C= (p.Pro1037=)
c.3108C= (p.Pro1036=)
c.3207C= (p.Pro1069=)
c.*3135C= (n.*3135C=)
c.2106+182913C= (n.2106+182913C=)
n.198C=
3g.184327620C>GCA2732897EIF2B5,EIF4G1c.3696C>G (p.Pro1232=)
c.3630C>G (p.Pro1210=)
c.3043C>G (n.3043C>G)
c.3099C>G (p.Pro1033=)
c.3699C>G (p.Pro1233=)
c.3204C>G (p.Pro1068=)
c.3717C>G (p.Pro1239=)
c.3435C>G (p.Pro1145=)
c.3579C>G (p.Pro1193=)
c.3576C>G (p.Pro1192=)
c.3438C>G (p.Pro1146=)
c.3111C>G (p.Pro1037=)
c.3108C>G (p.Pro1036=)
c.3207C>G (p.Pro1069=)
c.*3135C>G (n.*3135C>G)
c.2106+182913C>G (n.2106+182913C>G)
n.198C>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.184327620C>TCA437330568EIF2B5,EIF4G1c.3696C>T (p.Pro1232=)
c.3630C>T (p.Pro1210=)
c.3043C>T (n.3043C>T)
c.3099C>T (p.Pro1033=)
c.3699C>T (p.Pro1233=)
c.3204C>T (p.Pro1068=)
c.3717C>T (p.Pro1239=)
c.3435C>T (p.Pro1145=)
c.3579C>T (p.Pro1193=)
c.3576C>T (p.Pro1192=)
c.3438C>T (p.Pro1146=)
c.3111C>T (p.Pro1037=)
c.3108C>T (p.Pro1036=)
c.3207C>T (p.Pro1069=)
c.*3135C>T (n.*3135C>T)
c.2106+182913C>T (n.2106+182913C>T)
n.198C>T
 dbSNP
3g.184327621C>ACA2732899EIF2B5,EIF4G1c.3697C>A (p.Leu1233Met)
c.3631C>A (p.Leu1211Met)
c.3044C>A (n.3044C>A)
c.3100C>A (p.Leu1034Met)
c.3700C>A (p.Leu1234Met)
c.3205C>A (p.Leu1069Met)
c.3718C>A (p.Leu1240Met)
c.3436C>A (p.Leu1146Met)
c.3580C>A (p.Leu1194Met)
c.3577C>A (p.Leu1193Met)
c.3439C>A (p.Leu1147Met)
c.3112C>A (p.Leu1038Met)
c.3109C>A (p.Leu1037Met)
c.3208C>A (p.Leu1070Met)
c.*3136C>A (n.*3136C>A)
c.2106+182914C>A (n.2106+182914C>A)
n.199C>A
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.184327621C=CA1425958629EIF2B5,EIF4G1c.3697C= (p.Leu1233=)
c.3631C= (p.Leu1211=)
c.3044C= (n.3044C=)
c.3100C= (p.Leu1034=)
c.3700C= (p.Leu1234=)
c.3205C= (p.Leu1069=)
c.3718C= (p.Leu1240=)
c.3436C= (p.Leu1146=)
c.3580C= (p.Leu1194=)
c.3577C= (p.Leu1193=)
c.3439C= (p.Leu1147=)
c.3112C= (p.Leu1038=)
c.3109C= (p.Leu1037=)
c.3208C= (p.Leu1070=)
c.*3136C= (n.*3136C=)
c.2106+182914C= (n.2106+182914C=)
n.199C=
3g.184327621C>GCA355415855EIF2B5,EIF4G1c.3697C>G (p.Leu1233Val)
c.3631C>G (p.Leu1211Val)
c.3044C>G (n.3044C>G)
c.3100C>G (p.Leu1034Val)
c.3700C>G (p.Leu1234Val)
c.3205C>G (p.Leu1069Val)
c.3718C>G (p.Leu1240Val)
c.3436C>G (p.Leu1146Val)
c.3580C>G (p.Leu1194Val)
c.3577C>G (p.Leu1193Val)
c.3439C>G (p.Leu1147Val)
c.3112C>G (p.Leu1038Val)
c.3109C>G (p.Leu1037Val)
c.3208C>G (p.Leu1070Val)
c.*3136C>G (n.*3136C>G)
c.2106+182914C>G (n.2106+182914C>G)
n.199C>G
 dbSNP gnomAD v4
3g.184327621C>TCA2732898EIF2B5,EIF4G1c.3697C>T (p.Leu1233=)
c.3631C>T (p.Leu1211=)
c.3044C>T (n.3044C>T)
c.3100C>T (p.Leu1034=)
c.3700C>T (p.Leu1234=)
c.3205C>T (p.Leu1069=)
c.3718C>T (p.Leu1240=)
c.3436C>T (p.Leu1146=)
c.3580C>T (p.Leu1194=)
c.3577C>T (p.Leu1193=)
c.3439C>T (p.Leu1147=)
c.3112C>T (p.Leu1038=)
c.3109C>T (p.Leu1037=)
c.3208C>T (p.Leu1070=)
c.*3136C>T (n.*3136C>T)
c.2106+182914C>T (n.2106+182914C>T)
n.199C>T
 dbSNP ExAC gnomAD v2
3g.184327622T>ACA355415862EIF2B5,EIF4G1c.3698T>A (p.Leu1233Gln)
c.3632T>A (p.Leu1211Gln)
c.3045T>A (n.3045T>A)
c.3101T>A (p.Leu1034Gln)
c.3701T>A (p.Leu1234Gln)
c.3206T>A (p.Leu1069Gln)
c.3719T>A (p.Leu1240Gln)
c.3437T>A (p.Leu1146Gln)
c.3581T>A (p.Leu1194Gln)
c.3578T>A (p.Leu1193Gln)
c.3440T>A (p.Leu1147Gln)
c.3113T>A (p.Leu1038Gln)
c.3110T>A (p.Leu1037Gln)
c.3209T>A (p.Leu1070Gln)
c.*3137T>A (n.*3137T>A)
c.2106+182915T>A (n.2106+182915T>A)
n.200T>A
3g.184327622T>CCA2732900EIF2B5,EIF4G1c.3698T>C (p.Leu1233Pro)
c.3632T>C (p.Leu1211Pro)
c.3045T>C (n.3045T>C)
c.3101T>C (p.Leu1034Pro)
c.3701T>C (p.Leu1234Pro)
c.3206T>C (p.Leu1069Pro)
c.3719T>C (p.Leu1240Pro)
c.3437T>C (p.Leu1146Pro)
c.3581T>C (p.Leu1194Pro)
c.3578T>C (p.Leu1193Pro)
c.3440T>C (p.Leu1147Pro)
c.3113T>C (p.Leu1038Pro)
c.3110T>C (p.Leu1037Pro)
c.3209T>C (p.Leu1070Pro)
c.*3137T>C (n.*3137T>C)
c.2106+182915T>C (n.2106+182915T>C)
n.200T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.184327622T>GCA355415859EIF2B5,EIF4G1c.3698T>G (p.Leu1233Arg)
c.3632T>G (p.Leu1211Arg)
c.3045T>G (n.3045T>G)
c.3101T>G (p.Leu1034Arg)
c.3701T>G (p.Leu1234Arg)
c.3206T>G (p.Leu1069Arg)
c.3719T>G (p.Leu1240Arg)
c.3437T>G (p.Leu1146Arg)
c.3581T>G (p.Leu1194Arg)
c.3578T>G (p.Leu1193Arg)
c.3440T>G (p.Leu1147Arg)
c.3113T>G (p.Leu1038Arg)
c.3110T>G (p.Leu1037Arg)
c.3209T>G (p.Leu1070Arg)
c.*3137T>G (n.*3137T>G)
c.2106+182915T>G (n.2106+182915T>G)
n.200T>G
3g.184327622T=CA1425958631EIF2B5,EIF4G1c.3698T= (p.Leu1233=)
c.3632T= (p.Leu1211=)
c.3045T= (n.3045T=)
c.3101T= (p.Leu1034=)
c.3701T= (p.Leu1234=)
c.3206T= (p.Leu1069=)
c.3719T= (p.Leu1240=)
c.3437T= (p.Leu1146=)
c.3581T= (p.Leu1194=)
c.3578T= (p.Leu1193=)
c.3440T= (p.Leu1147=)
c.3113T= (p.Leu1038=)
c.3110T= (p.Leu1037=)
c.3209T= (p.Leu1070=)
c.*3137T= (n.*3137T=)
c.2106+182915T= (n.2106+182915T=)
n.200T=
3g.184327623G>ACA437330571EIF2B5,EIF4G1c.3699G>A (p.Leu1233=)
c.3633G>A (p.Leu1211=)
c.3046G>A (n.3046G>A)
c.3102G>A (p.Leu1034=)
c.3702G>A (p.Leu1234=)
c.3207G>A (p.Leu1069=)
c.3720G>A (p.Leu1240=)
c.3438G>A (p.Leu1146=)
c.3582G>A (p.Leu1194=)
c.3579G>A (p.Leu1193=)
c.3441G>A (p.Leu1147=)
c.3114G>A (p.Leu1038=)
c.3111G>A (p.Leu1037=)
c.3210G>A (p.Leu1070=)
c.*3138G>A (n.*3138G>A)
c.2106+182916G>A (n.2106+182916G>A)
n.201G>A
 gnomAD v4
3g.184327623G>CCA437330572EIF2B5,EIF4G1c.3699G>C (p.Leu1233=)
c.3633G>C (p.Leu1211=)
c.3046G>C (n.3046G>C)
c.3102G>C (p.Leu1034=)
c.3702G>C (p.Leu1234=)
c.3207G>C (p.Leu1069=)
c.3720G>C (p.Leu1240=)
c.3438G>C (p.Leu1146=)
c.3582G>C (p.Leu1194=)
c.3579G>C (p.Leu1193=)
c.3441G>C (p.Leu1147=)
c.3114G>C (p.Leu1038=)
c.3111G>C (p.Leu1037=)
c.3210G>C (p.Leu1070=)
c.*3138G>C (n.*3138G>C)
c.2106+182916G>C (n.2106+182916G>C)
n.201G>C
3g.184327623G>TCA437330573EIF2B5,EIF4G1c.3699G>T (p.Leu1233=)
c.3633G>T (p.Leu1211=)
c.3046G>T (n.3046G>T)
c.3102G>T (p.Leu1034=)
c.3702G>T (p.Leu1234=)
c.3207G>T (p.Leu1069=)
c.3720G>T (p.Leu1240=)
c.3438G>T (p.Leu1146=)
c.3582G>T (p.Leu1194=)
c.3579G>T (p.Leu1193=)
c.3441G>T (p.Leu1147=)
c.3114G>T (p.Leu1038=)
c.3111G>T (p.Leu1037=)
c.3210G>T (p.Leu1070=)
c.*3138G>T (n.*3138G>T)
c.2106+182916G>T (n.2106+182916G>T)
n.201G>T
3g.184327624A>CCA355415869EIF2B5,EIF4G1c.3700A>C (p.Lys1234Gln)
c.3634A>C (p.Lys1212Gln)
c.3047A>C (n.3047A>C)
c.3103A>C (p.Lys1035Gln)
c.3703A>C (p.Lys1235Gln)
c.3208A>C (p.Lys1070Gln)
c.3721A>C (p.Lys1241Gln)
c.3439A>C (p.Lys1147Gln)
c.3583A>C (p.Lys1195Gln)
c.3580A>C (p.Lys1194Gln)
c.3442A>C (p.Lys1148Gln)
c.3115A>C (p.Lys1039Gln)
c.3112A>C (p.Lys1038Gln)
c.3211A>C (p.Lys1071Gln)
c.*3139A>C (n.*3139A>C)
c.2106+182917A>C (n.2106+182917A>C)
n.202A>C
3g.184327624A>GCA355415873EIF2B5,EIF4G1c.3700A>G (p.Lys1234Glu)
c.3634A>G (p.Lys1212Glu)
c.3047A>G (n.3047A>G)
c.3103A>G (p.Lys1035Glu)
c.3703A>G (p.Lys1235Glu)
c.3208A>G (p.Lys1070Glu)
c.3721A>G (p.Lys1241Glu)
c.3439A>G (p.Lys1147Glu)
c.3583A>G (p.Lys1195Glu)
c.3580A>G (p.Lys1194Glu)
c.3442A>G (p.Lys1148Glu)
c.3115A>G (p.Lys1039Glu)
c.3112A>G (p.Lys1038Glu)
c.3211A>G (p.Lys1071Glu)
c.*3139A>G (n.*3139A>G)
c.2106+182917A>G (n.2106+182917A>G)
n.202A>G
3g.184327624A>TCA355415875EIF2B5,EIF4G1c.3700A>T (p.Lys1234Ter)
c.3634A>T (p.Lys1212Ter)
c.3047A>T (n.3047A>T)
c.3103A>T (p.Lys1035Ter)
c.3703A>T (p.Lys1235Ter)
c.3208A>T (p.Lys1070Ter)
c.3721A>T (p.Lys1241Ter)
c.3439A>T (p.Lys1147Ter)
c.3583A>T (p.Lys1195Ter)
c.3580A>T (p.Lys1194Ter)
c.3442A>T (p.Lys1148Ter)
c.3115A>T (p.Lys1039Ter)
c.3112A>T (p.Lys1038Ter)
c.3211A>T (p.Lys1071Ter)
c.*3139A>T (n.*3139A>T)
c.2106+182917A>T (n.2106+182917A>T)
n.202A>T
3g.184327625A>CCA355415879EIF2B5,EIF4G1c.3701A>C (p.Lys1234Thr)
c.3635A>C (p.Lys1212Thr)
c.3048A>C (n.3048A>C)
c.3104A>C (p.Lys1035Thr)
c.3704A>C (p.Lys1235Thr)
c.3209A>C (p.Lys1070Thr)
c.3722A>C (p.Lys1241Thr)
c.3440A>C (p.Lys1147Thr)
c.3584A>C (p.Lys1195Thr)
c.3581A>C (p.Lys1194Thr)
c.3443A>C (p.Lys1148Thr)
c.3116A>C (p.Lys1039Thr)
c.3113A>C (p.Lys1038Thr)
c.3212A>C (p.Lys1071Thr)
c.*3140A>C (n.*3140A>C)
c.2106+182918A>C (n.2106+182918A>C)
n.203A>C
3g.184327625A>GCA355415882EIF2B5,EIF4G1c.3701A>G (p.Lys1234Arg)
c.3635A>G (p.Lys1212Arg)
c.3048A>G (n.3048A>G)
c.3104A>G (p.Lys1035Arg)
c.3704A>G (p.Lys1235Arg)
c.3209A>G (p.Lys1070Arg)
c.3722A>G (p.Lys1241Arg)
c.3440A>G (p.Lys1147Arg)
c.3584A>G (p.Lys1195Arg)
c.3581A>G (p.Lys1194Arg)
c.3443A>G (p.Lys1148Arg)
c.3116A>G (p.Lys1039Arg)
c.3113A>G (p.Lys1038Arg)
c.3212A>G (p.Lys1071Arg)
c.*3140A>G (n.*3140A>G)
c.2106+182918A>G (n.2106+182918A>G)
n.203A>G
3g.184327625A>TCA355415891EIF2B5,EIF4G1c.3701A>T (p.Lys1234Met)
c.3635A>T (p.Lys1212Met)
c.3048A>T (n.3048A>T)
c.3104A>T (p.Lys1035Met)
c.3704A>T (p.Lys1235Met)
c.3209A>T (p.Lys1070Met)
c.3722A>T (p.Lys1241Met)
c.3440A>T (p.Lys1147Met)
c.3584A>T (p.Lys1195Met)
c.3581A>T (p.Lys1194Met)
c.3443A>T (p.Lys1148Met)
c.3116A>T (p.Lys1039Met)
c.3113A>T (p.Lys1038Met)
c.3212A>T (p.Lys1071Met)
c.*3140A>T (n.*3140A>T)
c.2106+182918A>T (n.2106+182918A>T)
n.203A>T
3g.184327626G>ACA437330575EIF2B5,EIF4G1c.3702G>A (p.Lys1234=)
c.3636G>A (p.Lys1212=)
c.3049G>A (n.3049G>A)
c.3105G>A (p.Lys1035=)
c.3705G>A (p.Lys1235=)
c.3210G>A (p.Lys1070=)
c.3723G>A (p.Lys1241=)
c.3441G>A (p.Lys1147=)
c.3585G>A (p.Lys1195=)
c.3582G>A (p.Lys1194=)
c.3444G>A (p.Lys1148=)
c.3117G>A (p.Lys1039=)
c.3114G>A (p.Lys1038=)
c.3213G>A (p.Lys1071=)
c.*3141G>A (n.*3141G>A)
c.2106+182919G>A (n.2106+182919G>A)
n.204G>A
3g.184327626G>CCA355415894EIF2B5,EIF4G1c.3702G>C (p.Lys1234Asn)
c.3636G>C (p.Lys1212Asn)
c.3049G>C (n.3049G>C)
c.3105G>C (p.Lys1035Asn)
c.3705G>C (p.Lys1235Asn)
c.3210G>C (p.Lys1070Asn)
c.3723G>C (p.Lys1241Asn)
c.3441G>C (p.Lys1147Asn)
c.3585G>C (p.Lys1195Asn)
c.3582G>C (p.Lys1194Asn)
c.3444G>C (p.Lys1148Asn)
c.3117G>C (p.Lys1039Asn)
c.3114G>C (p.Lys1038Asn)
c.3213G>C (p.Lys1071Asn)
c.*3141G>C (n.*3141G>C)
c.2106+182919G>C (n.2106+182919G>C)
n.204G>C
3g.184327626G>TCA355415896EIF2B5,EIF4G1c.3702G>T (p.Lys1234Asn)
c.3636G>T (p.Lys1212Asn)
c.3049G>T (n.3049G>T)
c.3105G>T (p.Lys1035Asn)
c.3705G>T (p.Lys1235Asn)
c.3210G>T (p.Lys1070Asn)
c.3723G>T (p.Lys1241Asn)
c.3441G>T (p.Lys1147Asn)
c.3585G>T (p.Lys1195Asn)
c.3582G>T (p.Lys1194Asn)
c.3444G>T (p.Lys1148Asn)
c.3117G>T (p.Lys1039Asn)
c.3114G>T (p.Lys1038Asn)
c.3213G>T (p.Lys1071Asn)
c.*3141G>T (n.*3141G>T)
c.2106+182919G>T (n.2106+182919G>T)
n.204G>T
 dbSNP
3g.184327627G>ACA355415897EIF2B5,EIF4G1c.3703G>A (p.Ala1235Thr)
c.3637G>A (p.Ala1213Thr)
c.3050G>A (n.3050G>A)
c.3106G>A (p.Ala1036Thr)
c.3706G>A (p.Ala1236Thr)
c.3211G>A (p.Ala1071Thr)
c.3724G>A (p.Ala1242Thr)
c.3442G>A (p.Ala1148Thr)
c.3586G>A (p.Ala1196Thr)
c.3583G>A (p.Ala1195Thr)
c.3445G>A (p.Ala1149Thr)
c.3118G>A (p.Ala1040Thr)
c.3115G>A (p.Ala1039Thr)
c.3214G>A (p.Ala1072Thr)
c.*3142G>A (n.*3142G>A)
c.2106+182920G>A (n.2106+182920G>A)
n.205G>A
3g.184327627G>CCA355415898EIF2B5,EIF4G1c.3703G>C (p.Ala1235Pro)
c.3637G>C (p.Ala1213Pro)
c.3050G>C (n.3050G>C)
c.3106G>C (p.Ala1036Pro)
c.3706G>C (p.Ala1236Pro)
c.3211G>C (p.Ala1071Pro)
c.3724G>C (p.Ala1242Pro)
c.3442G>C (p.Ala1148Pro)
c.3586G>C (p.Ala1196Pro)
c.3583G>C (p.Ala1195Pro)
c.3445G>C (p.Ala1149Pro)
c.3118G>C (p.Ala1040Pro)
c.3115G>C (p.Ala1039Pro)
c.3214G>C (p.Ala1072Pro)
c.*3142G>C (n.*3142G>C)
c.2106+182920G>C (n.2106+182920G>C)
n.205G>C
3g.184327627G>TCA355415900EIF2B5,EIF4G1c.3703G>T (p.Ala1235Ser)
c.3637G>T (p.Ala1213Ser)
c.3050G>T (n.3050G>T)
c.3106G>T (p.Ala1036Ser)
c.3706G>T (p.Ala1236Ser)
c.3211G>T (p.Ala1071Ser)
c.3724G>T (p.Ala1242Ser)
c.3442G>T (p.Ala1148Ser)
c.3586G>T (p.Ala1196Ser)
c.3583G>T (p.Ala1195Ser)
c.3445G>T (p.Ala1149Ser)
c.3118G>T (p.Ala1040Ser)
c.3115G>T (p.Ala1039Ser)
c.3214G>T (p.Ala1072Ser)
c.*3142G>T (n.*3142G>T)
c.2106+182920G>T (n.2106+182920G>T)
n.205G>T
3g.184327628C>ACA355415902EIF2B5,EIF4G1c.3704C>A (p.Ala1235Glu)
c.3638C>A (p.Ala1213Glu)
c.3051C>A (n.3051C>A)
c.3107C>A (p.Ala1036Glu)
c.3707C>A (p.Ala1236Glu)
c.3212C>A (p.Ala1071Glu)
c.3725C>A (p.Ala1242Glu)
c.3443C>A (p.Ala1148Glu)
c.3587C>A (p.Ala1196Glu)
c.3584C>A (p.Ala1195Glu)
c.3446C>A (p.Ala1149Glu)
c.3119C>A (p.Ala1040Glu)
c.3116C>A (p.Ala1039Glu)
c.3215C>A (p.Ala1072Glu)
c.*3143C>A (n.*3143C>A)
c.2106+182921C>A (n.2106+182921C>A)
n.206C>A
3g.184327628C=CA1425958634EIF2B5,EIF4G1c.3704C= (p.Ala1235=)
c.3638C= (p.Ala1213=)
c.3051C= (n.3051C=)
c.3107C= (p.Ala1036=)
c.3707C= (p.Ala1236=)
c.3212C= (p.Ala1071=)
c.3725C= (p.Ala1242=)
c.3443C= (p.Ala1148=)
c.3587C= (p.Ala1196=)
c.3584C= (p.Ala1195=)
c.3446C= (p.Ala1149=)
c.3119C= (p.Ala1040=)
c.3116C= (p.Ala1039=)
c.3215C= (p.Ala1072=)
c.*3143C= (n.*3143C=)
c.2106+182921C= (n.2106+182921C=)
n.206C=
3g.184327628C>GCA355415905EIF2B5,EIF4G1c.3704C>G (p.Ala1235Gly)
c.3638C>G (p.Ala1213Gly)
c.3051C>G (n.3051C>G)
c.3107C>G (p.Ala1036Gly)
c.3707C>G (p.Ala1236Gly)
c.3212C>G (p.Ala1071Gly)
c.3725C>G (p.Ala1242Gly)
c.3443C>G (p.Ala1148Gly)
c.3587C>G (p.Ala1196Gly)
c.3584C>G (p.Ala1195Gly)
c.3446C>G (p.Ala1149Gly)
c.3119C>G (p.Ala1040Gly)
c.3116C>G (p.Ala1039Gly)
c.3215C>G (p.Ala1072Gly)
c.*3143C>G (n.*3143C>G)
c.2106+182921C>G (n.2106+182921C>G)
n.206C>G
3g.184327628C>TCA2732901EIF2B5,EIF4G1c.3704C>T (p.Ala1235Val)
c.3638C>T (p.Ala1213Val)
c.3051C>T (n.3051C>T)
c.3107C>T (p.Ala1036Val)
c.3707C>T (p.Ala1236Val)
c.3212C>T (p.Ala1071Val)
c.3725C>T (p.Ala1242Val)
c.3443C>T (p.Ala1148Val)
c.3587C>T (p.Ala1196Val)
c.3584C>T (p.Ala1195Val)
c.3446C>T (p.Ala1149Val)
c.3119C>T (p.Ala1040Val)
c.3116C>T (p.Ala1039Val)
c.3215C>T (p.Ala1072Val)
c.*3143C>T (n.*3143C>T)
c.2106+182921C>T (n.2106+182921C>T)
n.206C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.184327629G>ACA2732902EIF2B5,EIF4G1c.3705G>A (p.Ala1235=)
c.3639G>A (p.Ala1213=)
c.3052G>A (n.3052G>A)
c.3108G>A (p.Ala1036=)
c.3708G>A (p.Ala1236=)
c.3213G>A (p.Ala1071=)
c.3726G>A (p.Ala1242=)
c.3444G>A (p.Ala1148=)
c.3588G>A (p.Ala1196=)
c.3585G>A (p.Ala1195=)
c.3447G>A (p.Ala1149=)
c.3120G>A (p.Ala1040=)
c.3117G>A (p.Ala1039=)
c.3216G>A (p.Ala1072=)
c.*3144G>A (n.*3144G>A)
c.2106+182922G>A (n.2106+182922G>A)
n.207G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.184327629G>CCA437330578EIF2B5,EIF4G1c.3705G>C (p.Ala1235=)
c.3639G>C (p.Ala1213=)
c.3052G>C (n.3052G>C)
c.3108G>C (p.Ala1036=)
c.3708G>C (p.Ala1236=)
c.3213G>C (p.Ala1071=)
c.3726G>C (p.Ala1242=)
c.3444G>C (p.Ala1148=)
c.3588G>C (p.Ala1196=)
c.3585G>C (p.Ala1195=)
c.3447G>C (p.Ala1149=)
c.3120G>C (p.Ala1040=)
c.3117G>C (p.Ala1039=)
c.3216G>C (p.Ala1072=)
c.*3144G>C (n.*3144G>C)
c.2106+182922G>C (n.2106+182922G>C)
n.207G>C
3g.184327629G=CA1425958637EIF2B5,EIF4G1c.3705G= (p.Ala1235=)
c.3639G= (p.Ala1213=)
c.3052G= (n.3052G=)
c.3108G= (p.Ala1036=)
c.3708G= (p.Ala1236=)
c.3213G= (p.Ala1071=)
c.3726G= (p.Ala1242=)
c.3444G= (p.Ala1148=)
c.3588G= (p.Ala1196=)
c.3585G= (p.Ala1195=)
c.3447G= (p.Ala1149=)
c.3120G= (p.Ala1040=)
c.3117G= (p.Ala1039=)
c.3216G= (p.Ala1072=)
c.*3144G= (n.*3144G=)
c.2106+182922G= (n.2106+182922G=)
n.207G=
3g.184327629G>TCA437330579EIF2B5,EIF4G1c.3705G>T (p.Ala1235=)
c.3639G>T (p.Ala1213=)
c.3052G>T (n.3052G>T)
c.3108G>T (p.Ala1036=)
c.3708G>T (p.Ala1236=)
c.3213G>T (p.Ala1071=)
c.3726G>T (p.Ala1242=)
c.3444G>T (p.Ala1148=)
c.3588G>T (p.Ala1196=)
c.3585G>T (p.Ala1195=)
c.3447G>T (p.Ala1149=)
c.3120G>T (p.Ala1040=)
c.3117G>T (p.Ala1039=)
c.3216G>T (p.Ala1072=)
c.*3144G>T (n.*3144G>T)
c.2106+182922G>T (n.2106+182922G>T)
n.207G>T
3g.184327630G>ACA355415920EIF2B5,EIF4G1c.3706G>A (p.Ala1236Thr)
c.3640G>A (p.Ala1214Thr)
c.3053G>A (n.3053G>A)
c.3109G>A (p.Ala1037Thr)
c.3709G>A (p.Ala1237Thr)
c.3214G>A (p.Ala1072Thr)
c.3727G>A (p.Ala1243Thr)
c.3445G>A (p.Ala1149Thr)
c.3589G>A (p.Ala1197Thr)
c.3586G>A (p.Ala1196Thr)
c.3448G>A (p.Ala1150Thr)
c.3121G>A (p.Ala1041Thr)
c.3118G>A (p.Ala1040Thr)
c.3217G>A (p.Ala1073Thr)
c.*3145G>A (n.*3145G>A)
c.2106+182923G>A (n.2106+182923G>A)
n.208G>A
 dbSNP gnomAD v4 COSMIC
3g.184327630G>CCA355415919EIF2B5,EIF4G1c.3706G>C (p.Ala1236Pro)
c.3640G>C (p.Ala1214Pro)
c.3053G>C (n.3053G>C)
c.3109G>C (p.Ala1037Pro)
c.3709G>C (p.Ala1237Pro)
c.3214G>C (p.Ala1072Pro)
c.3727G>C (p.Ala1243Pro)
c.3445G>C (p.Ala1149Pro)
c.3589G>C (p.Ala1197Pro)
c.3586G>C (p.Ala1196Pro)
c.3448G>C (p.Ala1150Pro)
c.3121G>C (p.Ala1041Pro)
c.3118G>C (p.Ala1040Pro)
c.3217G>C (p.Ala1073Pro)
c.*3145G>C (n.*3145G>C)
c.2106+182923G>C (n.2106+182923G>C)
n.208G>C
 dbSNP gnomAD v3 gnomAD v4
3g.184327630G=CA1425958639EIF2B5,EIF4G1c.3706G= (p.Ala1236=)
c.3640G= (p.Ala1214=)
c.3053G= (n.3053G=)
c.3109G= (p.Ala1037=)
c.3709G= (p.Ala1237=)
c.3214G= (p.Ala1072=)
c.3727G= (p.Ala1243=)
c.3445G= (p.Ala1149=)
c.3589G= (p.Ala1197=)
c.3586G= (p.Ala1196=)
c.3448G= (p.Ala1150=)
c.3121G= (p.Ala1041=)
c.3118G= (p.Ala1040=)
c.3217G= (p.Ala1073=)
c.*3145G= (n.*3145G=)
c.2106+182923G= (n.2106+182923G=)
n.208G=
3g.184327630G>TCA355415922EIF2B5,EIF4G1c.3706G>T (p.Ala1236Ser)
c.3640G>T (p.Ala1214Ser)
c.3053G>T (n.3053G>T)
c.3109G>T (p.Ala1037Ser)
c.3709G>T (p.Ala1237Ser)
c.3214G>T (p.Ala1072Ser)
c.3727G>T (p.Ala1243Ser)
c.3445G>T (p.Ala1149Ser)
c.3589G>T (p.Ala1197Ser)
c.3586G>T (p.Ala1196Ser)
c.3448G>T (p.Ala1150Ser)
c.3121G>T (p.Ala1041Ser)
c.3118G>T (p.Ala1040Ser)
c.3217G>T (p.Ala1073Ser)
c.*3145G>T (n.*3145G>T)
c.2106+182923G>T (n.2106+182923G>T)
n.208G>T
3g.184327631C>ACA355415926EIF2B5,EIF4G1c.3707C>A (p.Ala1236Asp)
c.3641C>A (p.Ala1214Asp)
c.3054C>A (n.3054C>A)
c.3110C>A (p.Ala1037Asp)
c.3710C>A (p.Ala1237Asp)
c.3215C>A (p.Ala1072Asp)
c.3728C>A (p.Ala1243Asp)
c.3446C>A (p.Ala1149Asp)
c.3590C>A (p.Ala1197Asp)
c.3587C>A (p.Ala1196Asp)
c.3449C>A (p.Ala1150Asp)
c.3122C>A (p.Ala1041Asp)
c.3119C>A (p.Ala1040Asp)
c.3218C>A (p.Ala1073Asp)
c.*3146C>A (n.*3146C>A)
c.2106+182924C>A (n.2106+182924C>A)
n.209C>A
3g.184327631C>GCA355415938EIF2B5,EIF4G1c.3707C>G (p.Ala1236Gly)
c.3641C>G (p.Ala1214Gly)
c.3054C>G (n.3054C>G)
c.3110C>G (p.Ala1037Gly)
c.3710C>G (p.Ala1237Gly)
c.3215C>G (p.Ala1072Gly)
c.3728C>G (p.Ala1243Gly)
c.3446C>G (p.Ala1149Gly)
c.3590C>G (p.Ala1197Gly)
c.3587C>G (p.Ala1196Gly)
c.3449C>G (p.Ala1150Gly)
c.3122C>G (p.Ala1041Gly)
c.3119C>G (p.Ala1040Gly)
c.3218C>G (p.Ala1073Gly)
c.*3146C>G (n.*3146C>G)
c.2106+182924C>G (n.2106+182924C>G)
n.209C>G
3g.184327631C>TCA355415931EIF2B5,EIF4G1c.3707C>T (p.Ala1236Val)
c.3641C>T (p.Ala1214Val)
c.3054C>T (n.3054C>T)
c.3110C>T (p.Ala1037Val)
c.3710C>T (p.Ala1237Val)
c.3215C>T (p.Ala1072Val)
c.3728C>T (p.Ala1243Val)
c.3446C>T (p.Ala1149Val)
c.3590C>T (p.Ala1197Val)
c.3587C>T (p.Ala1196Val)
c.3449C>T (p.Ala1150Val)
c.3122C>T (p.Ala1041Val)
c.3119C>T (p.Ala1040Val)
c.3218C>T (p.Ala1073Val)
c.*3146C>T (n.*3146C>T)
c.2106+182924C>T (n.2106+182924C>T)
n.209C>T
 gnomAD v4
3g.184327632T>ACA437330583EIF2B5,EIF4G1c.3708T>A (p.Ala1236=)
c.3642T>A (p.Ala1214=)
c.3055T>A (n.3055T>A)
c.3111T>A (p.Ala1037=)
c.3711T>A (p.Ala1237=)
c.3216T>A (p.Ala1072=)
c.3729T>A (p.Ala1243=)
c.3447T>A (p.Ala1149=)
c.3591T>A (p.Ala1197=)
c.3588T>A (p.Ala1196=)
c.3450T>A (p.Ala1150=)
c.3123T>A (p.Ala1041=)
c.3120T>A (p.Ala1040=)
c.3219T>A (p.Ala1073=)
c.*3147T>A (n.*3147T>A)
c.2106+182925T>A (n.2106+182925T>A)
n.210T>A
3g.184327632T>CCA437330584EIF2B5,EIF4G1c.3708T>C (p.Ala1236=)
c.3642T>C (p.Ala1214=)
c.3055T>C (n.3055T>C)
c.3111T>C (p.Ala1037=)
c.3711T>C (p.Ala1237=)
c.3216T>C (p.Ala1072=)
c.3729T>C (p.Ala1243=)
c.3447T>C (p.Ala1149=)
c.3591T>C (p.Ala1197=)
c.3588T>C (p.Ala1196=)
c.3450T>C (p.Ala1150=)
c.3123T>C (p.Ala1041=)
c.3120T>C (p.Ala1040=)
c.3219T>C (p.Ala1073=)
c.*3147T>C (n.*3147T>C)
c.2106+182925T>C (n.2106+182925T>C)
n.210T>C
3g.184327632T>GCA437330585EIF2B5,EIF4G1c.3708T>G (p.Ala1236=)
c.3642T>G (p.Ala1214=)
c.3055T>G (n.3055T>G)
c.3111T>G (p.Ala1037=)
c.3711T>G (p.Ala1237=)
c.3216T>G (p.Ala1072=)
c.3729T>G (p.Ala1243=)
c.3447T>G (p.Ala1149=)
c.3591T>G (p.Ala1197=)
c.3588T>G (p.Ala1196=)
c.3450T>G (p.Ala1150=)
c.3123T>G (p.Ala1041=)
c.3120T>G (p.Ala1040=)
c.3219T>G (p.Ala1073=)
c.*3147T>G (n.*3147T>G)
c.2106+182925T>G (n.2106+182925T>G)
n.210T>G
3g.184327633C>ACA355415946EIF2B5,EIF4G1c.3709C>A (p.Leu1237Ile)
c.3643C>A (p.Leu1215Ile)
c.3056C>A (n.3056C>A)
c.3112C>A (p.Leu1038Ile)
c.3712C>A (p.Leu1238Ile)
c.3217C>A (p.Leu1073Ile)
c.3730C>A (p.Leu1244Ile)
c.3448C>A (p.Leu1150Ile)
c.3592C>A (p.Leu1198Ile)
c.3589C>A (p.Leu1197Ile)
c.3451C>A (p.Leu1151Ile)
c.3124C>A (p.Leu1042Ile)
c.3121C>A (p.Leu1041Ile)
c.3220C>A (p.Leu1074Ile)
c.*3148C>A (n.*3148C>A)
c.2106+182926C>A (n.2106+182926C>A)
n.211C>A
3g.184327633C>GCA355415953EIF2B5,EIF4G1c.3709C>G (p.Leu1237Val)
c.3643C>G (p.Leu1215Val)
c.3056C>G (n.3056C>G)
c.3112C>G (p.Leu1038Val)
c.3712C>G (p.Leu1238Val)
c.3217C>G (p.Leu1073Val)
c.3730C>G (p.Leu1244Val)
c.3448C>G (p.Leu1150Val)
c.3592C>G (p.Leu1198Val)
c.3589C>G (p.Leu1197Val)
c.3451C>G (p.Leu1151Val)
c.3124C>G (p.Leu1042Val)
c.3121C>G (p.Leu1041Val)
c.3220C>G (p.Leu1074Val)
c.*3148C>G (n.*3148C>G)
c.2106+182926C>G (n.2106+182926C>G)
n.211C>G
 gnomAD v4
3g.184327633C>TCA355415948EIF2B5,EIF4G1c.3709C>T (p.Leu1237Phe)
c.3643C>T (p.Leu1215Phe)
c.3056C>T (n.3056C>T)
c.3112C>T (p.Leu1038Phe)
c.3712C>T (p.Leu1238Phe)
c.3217C>T (p.Leu1073Phe)
c.3730C>T (p.Leu1244Phe)
c.3448C>T (p.Leu1150Phe)
c.3592C>T (p.Leu1198Phe)
c.3589C>T (p.Leu1197Phe)
c.3451C>T (p.Leu1151Phe)
c.3124C>T (p.Leu1042Phe)
c.3121C>T (p.Leu1041Phe)
c.3220C>T (p.Leu1074Phe)
c.*3148C>T (n.*3148C>T)
c.2106+182926C>T (n.2106+182926C>T)
n.211C>T
 gnomAD v4
3g.184327634T>ACA355415956EIF2B5,EIF4G1c.3710T>A (p.Leu1237His)
c.3644T>A (p.Leu1215His)
c.3057T>A (n.3057T>A)
c.3113T>A (p.Leu1038His)
c.3713T>A (p.Leu1238His)
c.3218T>A (p.Leu1073His)
c.3731T>A (p.Leu1244His)
c.3449T>A (p.Leu1150His)
c.3593T>A (p.Leu1198His)
c.3590T>A (p.Leu1197His)
c.3452T>A (p.Leu1151His)
c.3125T>A (p.Leu1042His)
c.3122T>A (p.Leu1041His)
c.3221T>A (p.Leu1074His)
c.*3149T>A (n.*3149T>A)
c.2106+182927T>A (n.2106+182927T>A)
n.212T>A
3g.184327634T>CCA355415959EIF2B5,EIF4G1c.3710T>C (p.Leu1237Pro)
c.3644T>C (p.Leu1215Pro)
c.3057T>C (n.3057T>C)
c.3113T>C (p.Leu1038Pro)
c.3713T>C (p.Leu1238Pro)
c.3218T>C (p.Leu1073Pro)
c.3731T>C (p.Leu1244Pro)
c.3449T>C (p.Leu1150Pro)
c.3593T>C (p.Leu1198Pro)
c.3590T>C (p.Leu1197Pro)
c.3452T>C (p.Leu1151Pro)
c.3125T>C (p.Leu1042Pro)
c.3122T>C (p.Leu1041Pro)
c.3221T>C (p.Leu1074Pro)
c.*3149T>C (n.*3149T>C)
c.2106+182927T>C (n.2106+182927T>C)
n.212T>C
3g.184327634T>GCA355415961EIF2B5,EIF4G1c.3710T>G (p.Leu1237Arg)
c.3644T>G (p.Leu1215Arg)
c.3057T>G (n.3057T>G)
c.3113T>G (p.Leu1038Arg)
c.3713T>G (p.Leu1238Arg)
c.3218T>G (p.Leu1073Arg)
c.3731T>G (p.Leu1244Arg)
c.3449T>G (p.Leu1150Arg)
c.3593T>G (p.Leu1198Arg)
c.3590T>G (p.Leu1197Arg)
c.3452T>G (p.Leu1151Arg)
c.3125T>G (p.Leu1042Arg)
c.3122T>G (p.Leu1041Arg)
c.3221T>G (p.Leu1074Arg)
c.*3149T>G (n.*3149T>G)
c.2106+182927T>G (n.2106+182927T>G)
n.212T>G
 dbSNP gnomAD v3 gnomAD v4
3g.184327634T=CA1425958642EIF2B5,EIF4G1c.3710T= (p.Leu1237=)
c.3644T= (p.Leu1215=)
c.3057T= (n.3057T=)
c.3113T= (p.Leu1038=)
c.3713T= (p.Leu1238=)
c.3218T= (p.Leu1073=)
c.3731T= (p.Leu1244=)
c.3449T= (p.Leu1150=)
c.3593T= (p.Leu1198=)
c.3590T= (p.Leu1197=)
c.3452T= (p.Leu1151=)
c.3125T= (p.Leu1042=)
c.3122T= (p.Leu1041=)
c.3221T= (p.Leu1074=)
c.*3149T= (n.*3149T=)
c.2106+182927T= (n.2106+182927T=)
n.212T=
3g.184327635C>ACA437330588EIF2B5,EIF4G1c.3711C>A (p.Leu1237=)
c.3645C>A (p.Leu1215=)
c.3058C>A (n.3058C>A)
c.3114C>A (p.Leu1038=)
c.3714C>A (p.Leu1238=)
c.3219C>A (p.Leu1073=)
c.3732C>A (p.Leu1244=)
c.3450C>A (p.Leu1150=)
c.3594C>A (p.Leu1198=)
c.3591C>A (p.Leu1197=)
c.3453C>A (p.Leu1151=)
c.3126C>A (p.Leu1042=)
c.3123C>A (p.Leu1041=)
c.3222C>A (p.Leu1074=)
c.*3150C>A (n.*3150C>A)
c.2106+182928C>A (n.2106+182928C>A)
n.213C>A
3g.184327635C=CA1425958644EIF2B5,EIF4G1c.3711C= (p.Leu1237=)
c.3645C= (p.Leu1215=)
c.3058C= (n.3058C=)
c.3114C= (p.Leu1038=)
c.3714C= (p.Leu1238=)
c.3219C= (p.Leu1073=)
c.3732C= (p.Leu1244=)
c.3450C= (p.Leu1150=)
c.3594C= (p.Leu1198=)
c.3591C= (p.Leu1197=)
c.3453C= (p.Leu1151=)
c.3126C= (p.Leu1042=)
c.3123C= (p.Leu1041=)
c.3222C= (p.Leu1074=)
c.*3150C= (n.*3150C=)
c.2106+182928C= (n.2106+182928C=)
n.213C=
3g.184327635C>GCA437330589EIF2B5,EIF4G1c.3711C>G (p.Leu1237=)
c.3645C>G (p.Leu1215=)
c.3058C>G (n.3058C>G)
c.3114C>G (p.Leu1038=)
c.3714C>G (p.Leu1238=)
c.3219C>G (p.Leu1073=)
c.3732C>G (p.Leu1244=)
c.3450C>G (p.Leu1150=)
c.3594C>G (p.Leu1198=)
c.3591C>G (p.Leu1197=)
c.3453C>G (p.Leu1151=)
c.3126C>G (p.Leu1042=)
c.3123C>G (p.Leu1041=)
c.3222C>G (p.Leu1074=)
c.*3150C>G (n.*3150C>G)
c.2106+182928C>G (n.2106+182928C>G)
n.213C>G
3g.184327635C>TCA437330590EIF2B5,EIF4G1c.3711C>T (p.Leu1237=)
c.3645C>T (p.Leu1215=)
c.3058C>T (n.3058C>T)
c.3114C>T (p.Leu1038=)
c.3714C>T (p.Leu1238=)
c.3219C>T (p.Leu1073=)
c.3732C>T (p.Leu1244=)
c.3450C>T (p.Leu1150=)
c.3594C>T (p.Leu1198=)
c.3591C>T (p.Leu1197=)
c.3453C>T (p.Leu1151=)
c.3126C>T (p.Leu1042=)
c.3123C>T (p.Leu1041=)
c.3222C>T (p.Leu1074=)
c.*3150C>T (n.*3150C>T)
c.2106+182928C>T (n.2106+182928C>T)
n.213C>T
 dbSNP gnomAD v4
3g.184327636T>ACA355415964EIF2B5,EIF4G1c.3712T>A (p.Ser1238Thr)
c.3646T>A (p.Ser1216Thr)
c.3059T>A (n.3059T>A)
c.3115T>A (p.Ser1039Thr)
c.3715T>A (p.Ser1239Thr)
c.3220T>A (p.Ser1074Thr)
c.3733T>A (p.Ser1245Thr)
c.3451T>A (p.Ser1151Thr)
c.3595T>A (p.Ser1199Thr)
c.3592T>A (p.Ser1198Thr)
c.3454T>A (p.Ser1152Thr)
c.3127T>A (p.Ser1043Thr)
c.3124T>A (p.Ser1042Thr)
c.3223T>A (p.Ser1075Thr)
c.*3151T>A (n.*3151T>A)
c.2106+182929T>A (n.2106+182929T>A)
n.214T>A
3g.184327636T>CCA355415966EIF2B5,EIF4G1c.3712T>C (p.Ser1238Pro)
c.3646T>C (p.Ser1216Pro)
c.3059T>C (n.3059T>C)
c.3115T>C (p.Ser1039Pro)
c.3715T>C (p.Ser1239Pro)
c.3220T>C (p.Ser1074Pro)
c.3733T>C (p.Ser1245Pro)
c.3451T>C (p.Ser1151Pro)
c.3595T>C (p.Ser1199Pro)
c.3592T>C (p.Ser1198Pro)
c.3454T>C (p.Ser1152Pro)
c.3127T>C (p.Ser1043Pro)
c.3124T>C (p.Ser1042Pro)
c.3223T>C (p.Ser1075Pro)
c.*3151T>C (n.*3151T>C)
c.2106+182929T>C (n.2106+182929T>C)
n.214T>C
3g.184327636T>GCA355415968EIF2B5,EIF4G1c.3712T>G (p.Ser1238Ala)
c.3646T>G (p.Ser1216Ala)
c.3059T>G (n.3059T>G)
c.3115T>G (p.Ser1039Ala)
c.3715T>G (p.Ser1239Ala)
c.3220T>G (p.Ser1074Ala)
c.3733T>G (p.Ser1245Ala)
c.3451T>G (p.Ser1151Ala)
c.3595T>G (p.Ser1199Ala)
c.3592T>G (p.Ser1198Ala)
c.3454T>G (p.Ser1152Ala)
c.3127T>G (p.Ser1043Ala)
c.3124T>G (p.Ser1042Ala)
c.3223T>G (p.Ser1075Ala)
c.*3151T>G (n.*3151T>G)
c.2106+182929T>G (n.2106+182929T>G)
n.214T>G
3g.184327637C>ACA355415970EIF2B5,EIF4G1c.3713C>A (p.Ser1238Tyr)
c.3647C>A (p.Ser1216Tyr)
c.3060C>A (n.3060C>A)
c.3116C>A (p.Ser1039Tyr)
c.3716C>A (p.Ser1239Tyr)
c.3221C>A (p.Ser1074Tyr)
c.3734C>A (p.Ser1245Tyr)
c.3452C>A (p.Ser1151Tyr)
c.3596C>A (p.Ser1199Tyr)
c.3593C>A (p.Ser1198Tyr)
c.3455C>A (p.Ser1152Tyr)
c.3128C>A (p.Ser1043Tyr)
c.3125C>A (p.Ser1042Tyr)
c.3224C>A (p.Ser1075Tyr)
c.*3152C>A (n.*3152C>A)
c.2106+182930C>A (n.2106+182930C>A)
n.215C>A
3g.184327637C=CA1425958647EIF2B5,EIF4G1c.3713C= (p.Ser1238=)
c.3647C= (p.Ser1216=)
c.3060C= (n.3060C=)
c.3116C= (p.Ser1039=)
c.3716C= (p.Ser1239=)
c.3221C= (p.Ser1074=)
c.3734C= (p.Ser1245=)
c.3452C= (p.Ser1151=)
c.3596C= (p.Ser1199=)
c.3593C= (p.Ser1198=)
c.3455C= (p.Ser1152=)
c.3128C= (p.Ser1043=)
c.3125C= (p.Ser1042=)
c.3224C= (p.Ser1075=)
c.*3152C= (n.*3152C=)
c.2106+182930C= (n.2106+182930C=)
n.215C=
3g.184327637C>GCA355415971EIF2B5,EIF4G1c.3713C>G (p.Ser1238Cys)
c.3647C>G (p.Ser1216Cys)
c.3060C>G (n.3060C>G)
c.3116C>G (p.Ser1039Cys)
c.3716C>G (p.Ser1239Cys)
c.3221C>G (p.Ser1074Cys)
c.3734C>G (p.Ser1245Cys)
c.3452C>G (p.Ser1151Cys)
c.3596C>G (p.Ser1199Cys)
c.3593C>G (p.Ser1198Cys)
c.3455C>G (p.Ser1152Cys)
c.3128C>G (p.Ser1043Cys)
c.3125C>G (p.Ser1042Cys)
c.3224C>G (p.Ser1075Cys)
c.*3152C>G (n.*3152C>G)
c.2106+182930C>G (n.2106+182930C>G)
n.215C>G
 COSMIC
3g.184327637C>TCA355415972EIF2B5,EIF4G1c.3713C>T (p.Ser1238Phe)
c.3647C>T (p.Ser1216Phe)
c.3060C>T (n.3060C>T)
c.3116C>T (p.Ser1039Phe)
c.3716C>T (p.Ser1239Phe)
c.3221C>T (p.Ser1074Phe)
c.3734C>T (p.Ser1245Phe)
c.3452C>T (p.Ser1151Phe)
c.3596C>T (p.Ser1199Phe)
c.3593C>T (p.Ser1198Phe)
c.3455C>T (p.Ser1152Phe)
c.3128C>T (p.Ser1043Phe)
c.3125C>T (p.Ser1042Phe)
c.3224C>T (p.Ser1075Phe)
c.*3152C>T (n.*3152C>T)
c.2106+182930C>T (n.2106+182930C>T)
n.215C>T
 dbSNP gnomAD v2 gnomAD v4
3g.184327638T>ACA437330592EIF2B5,EIF4G1c.3714T>A (p.Ser1238=)
c.3648T>A (p.Ser1216=)
c.3061T>A (n.3061T>A)
c.3117T>A (p.Ser1039=)
c.3717T>A (p.Ser1239=)
c.3222T>A (p.Ser1074=)
c.3735T>A (p.Ser1245=)
c.3453T>A (p.Ser1151=)
c.3597T>A (p.Ser1199=)
c.3594T>A (p.Ser1198=)
c.3456T>A (p.Ser1152=)
c.3129T>A (p.Ser1043=)
c.3126T>A (p.Ser1042=)
c.3225T>A (p.Ser1075=)
c.*3153T>A (n.*3153T>A)
c.2106+182931T>A (n.2106+182931T>A)
n.216T>A
3g.184327638T>CCA2732904EIF2B5,EIF4G1c.3714T>C (p.Ser1238=)
c.3648T>C (p.Ser1216=)
c.3061T>C (n.3061T>C)
c.3117T>C (p.Ser1039=)
c.3717T>C (p.Ser1239=)
c.3222T>C (p.Ser1074=)
c.3735T>C (p.Ser1245=)
c.3453T>C (p.Ser1151=)
c.3597T>C (p.Ser1199=)
c.3594T>C (p.Ser1198=)
c.3456T>C (p.Ser1152=)
c.3129T>C (p.Ser1043=)
c.3126T>C (p.Ser1042=)
c.3225T>C (p.Ser1075=)
c.*3153T>C (n.*3153T>C)
c.2106+182931T>C (n.2106+182931T>C)
n.216T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.184327638T>GCA437330593EIF2B5,EIF4G1c.3714T>G (p.Ser1238=)
c.3648T>G (p.Ser1216=)
c.3061T>G (n.3061T>G)
c.3117T>G (p.Ser1039=)
c.3717T>G (p.Ser1239=)
c.3222T>G (p.Ser1074=)
c.3735T>G (p.Ser1245=)
c.3453T>G (p.Ser1151=)
c.3597T>G (p.Ser1199=)
c.3594T>G (p.Ser1198=)
c.3456T>G (p.Ser1152=)
c.3129T>G (p.Ser1043=)
c.3126T>G (p.Ser1042=)
c.3225T>G (p.Ser1075=)
c.*3153T>G (n.*3153T>G)
c.2106+182931T>G (n.2106+182931T>G)
n.216T>G
3g.184327638T=CA1425958650EIF2B5,EIF4G1c.3714T= (p.Ser1238=)
c.3648T= (p.Ser1216=)
c.3061T= (n.3061T=)
c.3117T= (p.Ser1039=)
c.3717T= (p.Ser1239=)
c.3222T= (p.Ser1074=)
c.3735T= (p.Ser1245=)
c.3453T= (p.Ser1151=)
c.3597T= (p.Ser1199=)
c.3594T= (p.Ser1198=)
c.3456T= (p.Ser1152=)
c.3129T= (p.Ser1043=)
c.3126T= (p.Ser1042=)
c.3225T= (p.Ser1075=)
c.*3153T= (n.*3153T=)
c.2106+182931T= (n.2106+182931T=)
n.216T=
3g.184327638_184327641delinsTGAGCA1425958649EIF2B5,EIF4G1c.3714_3717delinsTGAG (p.Ser1238=)
c.3648_3651delinsTGAG (p.Ser1216=)
c.3061_3064delinsTGAG (n.3061_3064delinsTGAG)
c.3117_3120delinsTGAG (p.Ser1039=)
c.3717_3720delinsTGAG (p.Ser1239=)
c.3222_3225delinsTGAG (p.Ser1074=)
c.3735_3738delinsTGAG (p.Ser1245=)
c.3453_3456delinsTGAG (p.Ser1151=)
c.3597_3600delinsTGAG (p.Ser1199=)
c.3594_3597delinsTGAG (p.Ser1198=)
c.3456_3459delinsTGAG (p.Ser1152=)
c.3129_3132delinsTGAG (p.Ser1043=)
c.3126_3129delinsTGAG (p.Ser1042=)
c.3225_3228delinsTGAG (p.Ser1075=)
c.*3153_*3156delinsTGAG (n.*3153_*3156delinsTGAG)
c.2106+182931_2106+182934delinsTGAG (n.2106+182931_2106+182934delinsTGAG)
n.216_219delinsTGAG
3g.184327639G>ACA355415978EIF2B5,EIF4G1c.3715G>A (p.Glu1239Lys)
c.3649G>A (p.Glu1217Lys)
c.3062G>A (n.3062G>A)
c.3118G>A (p.Glu1040Lys)
c.3718G>A (p.Glu1240Lys)
c.3223G>A (p.Glu1075Lys)
c.3736G>A (p.Glu1246Lys)
c.3454G>A (p.Glu1152Lys)
c.3598G>A (p.Glu1200Lys)
c.3595G>A (p.Glu1199Lys)
c.3457G>A (p.Glu1153Lys)
c.3130G>A (p.Glu1044Lys)
c.3127G>A (p.Glu1043Lys)
c.3226G>A (p.Glu1076Lys)
c.*3154G>A (n.*3154G>A)
c.2106+182932G>A (n.2106+182932G>A)
n.217G>A
3g.184327639G>CCA2732905EIF2B5,EIF4G1c.3715G>C (p.Glu1239Gln)
c.3649G>C (p.Glu1217Gln)
c.3062G>C (n.3062G>C)
c.3118G>C (p.Glu1040Gln)
c.3718G>C (p.Glu1240Gln)
c.3223G>C (p.Glu1075Gln)
c.3736G>C (p.Glu1246Gln)
c.3454G>C (p.Glu1152Gln)
c.3598G>C (p.Glu1200Gln)
c.3595G>C (p.Glu1199Gln)
c.3457G>C (p.Glu1153Gln)
c.3130G>C (p.Glu1044Gln)
c.3127G>C (p.Glu1043Gln)
c.3226G>C (p.Glu1076Gln)
c.*3154G>C (n.*3154G>C)
c.2106+182932G>C (n.2106+182932G>C)
n.217G>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.184327639G=CA1425958653EIF2B5,EIF4G1c.3715G= (p.Glu1239=)
c.3649G= (p.Glu1217=)
c.3062G= (n.3062G=)
c.3118G= (p.Glu1040=)
c.3718G= (p.Glu1240=)
c.3223G= (p.Glu1075=)
c.3736G= (p.Glu1246=)
c.3454G= (p.Glu1152=)
c.3598G= (p.Glu1200=)
c.3595G= (p.Glu1199=)
c.3457G= (p.Glu1153=)
c.3130G= (p.Glu1044=)
c.3127G= (p.Glu1043=)
c.3226G= (p.Glu1076=)
c.*3154G= (n.*3154G=)
c.2106+182932G= (n.2106+182932G=)
n.217G=
3g.184327639G>TCA355415974EIF2B5,EIF4G1c.3715G>T (p.Glu1239Ter)
c.3649G>T (p.Glu1217Ter)
c.3062G>T (n.3062G>T)
c.3118G>T (p.Glu1040Ter)
c.3718G>T (p.Glu1240Ter)
c.3223G>T (p.Glu1075Ter)
c.3736G>T (p.Glu1246Ter)
c.3454G>T (p.Glu1152Ter)
c.3598G>T (p.Glu1200Ter)
c.3595G>T (p.Glu1199Ter)
c.3457G>T (p.Glu1153Ter)
c.3130G>T (p.Glu1044Ter)
c.3127G>T (p.Glu1043Ter)
c.3226G>T (p.Glu1076Ter)
c.*3154G>T (n.*3154G>T)
c.2106+182932G>T (n.2106+182932G>T)
n.217G>T
3g.184327645_184327647delCA2732903EIF2B5,EIF4G1c.3721_3723del (p.Glu1241del)
c.3655_3657del (p.Glu1219del)
c.3068_3070del (n.3068_3070del)
c.3124_3126del (p.Glu1042del)
c.3724_3726del (p.Glu1242del)
c.3229_3231del (p.Glu1077del)
c.3742_3744del (p.Glu1248del)
c.3460_3462del (p.Glu1154del)
c.3604_3606del (p.Glu1202del)
c.3601_3603del (p.Glu1201del)
c.3463_3465del (p.Glu1155del)
c.3136_3138del (p.Glu1046del)
c.3133_3135del (p.Glu1045del)
c.3232_3234del (p.Glu1078del)
c.*3160_*3162del (n.*3160_*3162del)
c.2106+182938_2106+182940del (n.2106+182938_2106+182940del)
n.223_225del
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.184327640A>CCA355415981EIF2B5,EIF4G1c.3716A>C (p.Glu1239Ala)
c.3650A>C (p.Glu1217Ala)
c.3063A>C (n.3063A>C)
c.3119A>C (p.Glu1040Ala)
c.3719A>C (p.Glu1240Ala)
c.3224A>C (p.Glu1075Ala)
c.3737A>C (p.Glu1246Ala)
c.3455A>C (p.Glu1152Ala)
c.3599A>C (p.Glu1200Ala)
c.3596A>C (p.Glu1199Ala)
c.3458A>C (p.Glu1153Ala)
c.3131A>C (p.Glu1044Ala)
c.3128A>C (p.Glu1043Ala)
c.3227A>C (p.Glu1076Ala)
c.*3155A>C (n.*3155A>C)
c.2106+182933A>C (n.2106+182933A>C)
n.218A>C
3g.184327640A>GCA355415983EIF2B5,EIF4G1c.3716A>G (p.Glu1239Gly)
c.3650A>G (p.Glu1217Gly)
c.3063A>G (n.3063A>G)
c.3119A>G (p.Glu1040Gly)
c.3719A>G (p.Glu1240Gly)
c.3224A>G (p.Glu1075Gly)
c.3737A>G (p.Glu1246Gly)
c.3455A>G (p.Glu1152Gly)
c.3599A>G (p.Glu1200Gly)
c.3596A>G (p.Glu1199Gly)
c.3458A>G (p.Glu1153Gly)
c.3131A>G (p.Glu1044Gly)
c.3128A>G (p.Glu1043Gly)
c.3227A>G (p.Glu1076Gly)
c.*3155A>G (n.*3155A>G)
c.2106+182933A>G (n.2106+182933A>G)
n.218A>G
3g.184327640A>TCA355415986EIF2B5,EIF4G1c.3716A>T (p.Glu1239Val)
c.3650A>T (p.Glu1217Val)
c.3063A>T (n.3063A>T)
c.3119A>T (p.Glu1040Val)
c.3719A>T (p.Glu1240Val)
c.3224A>T (p.Glu1075Val)
c.3737A>T (p.Glu1246Val)
c.3455A>T (p.Glu1152Val)
c.3599A>T (p.Glu1200Val)
c.3596A>T (p.Glu1199Val)
c.3458A>T (p.Glu1153Val)
c.3131A>T (p.Glu1044Val)
c.3128A>T (p.Glu1043Val)
c.3227A>T (p.Glu1076Val)
c.*3155A>T (n.*3155A>T)
c.2106+182933A>T (n.2106+182933A>T)
n.218A>T
3g.184327641G>ACA88867908EIF2B5,EIF4G1c.3717G>A (p.Glu1239=)
c.3651G>A (p.Glu1217=)
c.3064G>A (n.3064G>A)
c.3120G>A (p.Glu1040=)
c.3720G>A (p.Glu1240=)
c.3225G>A (p.Glu1075=)
c.3738G>A (p.Glu1246=)
c.3456G>A (p.Glu1152=)
c.3600G>A (p.Glu1200=)
c.3597G>A (p.Glu1199=)
c.3459G>A (p.Glu1153=)
c.3132G>A (p.Glu1044=)
c.3129G>A (p.Glu1043=)
c.3228G>A (p.Glu1076=)
c.*3156G>A (n.*3156G>A)
c.2106+182934G>A (n.2106+182934G>A)
n.219G>A
 dbSNP gnomAD v4
3g.184327641G>CCA355415990EIF2B5,EIF4G1c.3717G>C (p.Glu1239Asp)
c.3651G>C (p.Glu1217Asp)
c.3064G>C (n.3064G>C)
c.3120G>C (p.Glu1040Asp)
c.3720G>C (p.Glu1240Asp)
c.3225G>C (p.Glu1075Asp)
c.3738G>C (p.Glu1246Asp)
c.3456G>C (p.Glu1152Asp)
c.3600G>C (p.Glu1200Asp)
c.3597G>C (p.Glu1199Asp)
c.3459G>C (p.Glu1153Asp)
c.3132G>C (p.Glu1044Asp)
c.3129G>C (p.Glu1043Asp)
c.3228G>C (p.Glu1076Asp)
c.*3156G>C (n.*3156G>C)
c.2106+182934G>C (n.2106+182934G>C)
n.219G>C
3g.184327641G=CA1425958656EIF2B5,EIF4G1c.3717G= (p.Glu1239=)
c.3651G= (p.Glu1217=)
c.3064G= (n.3064G=)
c.3120G= (p.Glu1040=)
c.3720G= (p.Glu1240=)
c.3225G= (p.Glu1075=)
c.3738G= (p.Glu1246=)
c.3456G= (p.Glu1152=)
c.3600G= (p.Glu1200=)
c.3597G= (p.Glu1199=)
c.3459G= (p.Glu1153=)
c.3132G= (p.Glu1044=)
c.3129G= (p.Glu1043=)
c.3228G= (p.Glu1076=)
c.*3156G= (n.*3156G=)
c.2106+182934G= (n.2106+182934G=)
n.219G=
3g.184327641G>TCA355415993EIF2B5,EIF4G1c.3717G>T (p.Glu1239Asp)
c.3651G>T (p.Glu1217Asp)
c.3064G>T (n.3064G>T)
c.3120G>T (p.Glu1040Asp)
c.3720G>T (p.Glu1240Asp)
c.3225G>T (p.Glu1075Asp)
c.3738G>T (p.Glu1246Asp)
c.3456G>T (p.Glu1152Asp)
c.3600G>T (p.Glu1200Asp)
c.3597G>T (p.Glu1199Asp)
c.3459G>T (p.Glu1153Asp)
c.3132G>T (p.Glu1044Asp)
c.3129G>T (p.Glu1043Asp)
c.3228G>T (p.Glu1076Asp)
c.*3156G>T (n.*3156G>T)
c.2106+182934G>T (n.2106+182934G>T)
n.219G>T
3g.184327642G>ACA355415996EIF2B5,EIF4G1c.3718G>A (p.Glu1240Lys)
c.3652G>A (p.Glu1218Lys)
c.3065G>A (n.3065G>A)
c.3121G>A (p.Glu1041Lys)
c.3721G>A (p.Glu1241Lys)
c.3226G>A (p.Glu1076Lys)
c.3739G>A (p.Glu1247Lys)
c.3457G>A (p.Glu1153Lys)
c.3601G>A (p.Glu1201Lys)
c.3598G>A (p.Glu1200Lys)
c.3460G>A (p.Glu1154Lys)
c.3133G>A (p.Glu1045Lys)
c.3130G>A (p.Glu1044Lys)
c.3229G>A (p.Glu1077Lys)
c.*3157G>A (n.*3157G>A)
c.2106+182935G>A (n.2106+182935G>A)
n.220G>A
3g.184327642G>CCA355416000EIF2B5,EIF4G1c.3718G>C (p.Glu1240Gln)
c.3652G>C (p.Glu1218Gln)
c.3065G>C (n.3065G>C)
c.3121G>C (p.Glu1041Gln)
c.3721G>C (p.Glu1241Gln)
c.3226G>C (p.Glu1076Gln)
c.3739G>C (p.Glu1247Gln)
c.3457G>C (p.Glu1153Gln)
c.3601G>C (p.Glu1201Gln)
c.3598G>C (p.Glu1200Gln)
c.3460G>C (p.Glu1154Gln)
c.3133G>C (p.Glu1045Gln)
c.3130G>C (p.Glu1044Gln)
c.3229G>C (p.Glu1077Gln)
c.*3157G>C (n.*3157G>C)
c.2106+182935G>C (n.2106+182935G>C)
n.220G>C
3g.184327642G>TCA355416003EIF2B5,EIF4G1c.3718G>T (p.Glu1240Ter)
c.3652G>T (p.Glu1218Ter)
c.3065G>T (n.3065G>T)
c.3121G>T (p.Glu1041Ter)
c.3721G>T (p.Glu1241Ter)
c.3226G>T (p.Glu1076Ter)
c.3739G>T (p.Glu1247Ter)
c.3457G>T (p.Glu1153Ter)
c.3601G>T (p.Glu1201Ter)
c.3598G>T (p.Glu1200Ter)
c.3460G>T (p.Glu1154Ter)
c.3133G>T (p.Glu1045Ter)
c.3130G>T (p.Glu1044Ter)
c.3229G>T (p.Glu1077Ter)
c.*3157G>T (n.*3157G>T)
c.2106+182935G>T (n.2106+182935G>T)
n.220G>T
3g.184327643A>CCA355416005EIF2B5,EIF4G1c.3719A>C (p.Glu1240Ala)
c.3653A>C (p.Glu1218Ala)
c.3066A>C (n.3066A>C)
c.3122A>C (p.Glu1041Ala)
c.3722A>C (p.Glu1241Ala)
c.3227A>C (p.Glu1076Ala)
c.3740A>C (p.Glu1247Ala)
c.3458A>C (p.Glu1153Ala)
c.3602A>C (p.Glu1201Ala)
c.3599A>C (p.Glu1200Ala)
c.3461A>C (p.Glu1154Ala)
c.3134A>C (p.Glu1045Ala)
c.3131A>C (p.Glu1044Ala)
c.3230A>C (p.Glu1077Ala)
c.*3158A>C (n.*3158A>C)
c.2106+182936A>C (n.2106+182936A>C)
n.221A>C
3g.184327643A>GCA355416008EIF2B5,EIF4G1c.3719A>G (p.Glu1240Gly)
c.3653A>G (p.Glu1218Gly)
c.3066A>G (n.3066A>G)
c.3122A>G (p.Glu1041Gly)
c.3722A>G (p.Glu1241Gly)
c.3227A>G (p.Glu1076Gly)
c.3740A>G (p.Glu1247Gly)
c.3458A>G (p.Glu1153Gly)
c.3602A>G (p.Glu1201Gly)
c.3599A>G (p.Glu1200Gly)
c.3461A>G (p.Glu1154Gly)
c.3134A>G (p.Glu1045Gly)
c.3131A>G (p.Glu1044Gly)
c.3230A>G (p.Glu1077Gly)
c.*3158A>G (n.*3158A>G)
c.2106+182936A>G (n.2106+182936A>G)
n.221A>G
3g.184327643A>TCA355416009EIF2B5,EIF4G1c.3719A>T (p.Glu1240Val)
c.3653A>T (p.Glu1218Val)
c.3066A>T (n.3066A>T)
c.3122A>T (p.Glu1041Val)
c.3722A>T (p.Glu1241Val)
c.3227A>T (p.Glu1076Val)
c.3740A>T (p.Glu1247Val)
c.3458A>T (p.Glu1153Val)
c.3602A>T (p.Glu1201Val)
c.3599A>T (p.Glu1200Val)
c.3461A>T (p.Glu1154Val)
c.3134A>T (p.Glu1045Val)
c.3131A>T (p.Glu1044Val)
c.3230A>T (p.Glu1077Val)
c.*3158A>T (n.*3158A>T)
c.2106+182936A>T (n.2106+182936A>T)
n.221A>T
 gnomAD v4
3g.184327644G>ACA437330601EIF2B5,EIF4G1c.3720G>A (p.Glu1240=)
c.3654G>A (p.Glu1218=)
c.3067G>A (n.3067G>A)
c.3123G>A (p.Glu1041=)
c.3723G>A (p.Glu1241=)
c.3228G>A (p.Glu1076=)
c.3741G>A (p.Glu1247=)
c.3459G>A (p.Glu1153=)
c.3603G>A (p.Glu1201=)
c.3600G>A (p.Glu1200=)
c.3462G>A (p.Glu1154=)
c.3135G>A (p.Glu1045=)
c.3132G>A (p.Glu1044=)
c.3231G>A (p.Glu1077=)
c.*3159G>A (n.*3159G>A)
c.2106+182937G>A (n.2106+182937G>A)
n.222G>A
 dbSNP gnomAD v4
3g.184327644G>CCA355416013EIF2B5,EIF4G1c.3720G>C (p.Glu1240Asp)
c.3654G>C (p.Glu1218Asp)
c.3067G>C (n.3067G>C)
c.3123G>C (p.Glu1041Asp)
c.3723G>C (p.Glu1241Asp)
c.3228G>C (p.Glu1076Asp)
c.3741G>C (p.Glu1247Asp)
c.3459G>C (p.Glu1153Asp)
c.3603G>C (p.Glu1201Asp)
c.3600G>C (p.Glu1200Asp)
c.3462G>C (p.Glu1154Asp)
c.3135G>C (p.Glu1045Asp)
c.3132G>C (p.Glu1044Asp)
c.3231G>C (p.Glu1077Asp)
c.*3159G>C (n.*3159G>C)
c.2106+182937G>C (n.2106+182937G>C)
n.222G>C
 gnomAD v4
3g.184327644G=CA1425958658EIF2B5,EIF4G1c.3720G= (p.Glu1240=)
c.3654G= (p.Glu1218=)
c.3067G= (n.3067G=)
c.3123G= (p.Glu1041=)
c.3723G= (p.Glu1241=)
c.3228G= (p.Glu1076=)
c.3741G= (p.Glu1247=)
c.3459G= (p.Glu1153=)
c.3603G= (p.Glu1201=)
c.3600G= (p.Glu1200=)
c.3462G= (p.Glu1154=)
c.3135G= (p.Glu1045=)
c.3132G= (p.Glu1044=)
c.3231G= (p.Glu1077=)
c.*3159G= (n.*3159G=)
c.2106+182937G= (n.2106+182937G=)
n.222G=
3g.184327644G>TCA355416012EIF2B5,EIF4G1c.3720G>T (p.Glu1240Asp)
c.3654G>T (p.Glu1218Asp)
c.3067G>T (n.3067G>T)
c.3123G>T (p.Glu1041Asp)
c.3723G>T (p.Glu1241Asp)
c.3228G>T (p.Glu1076Asp)
c.3741G>T (p.Glu1247Asp)
c.3459G>T (p.Glu1153Asp)
c.3603G>T (p.Glu1201Asp)
c.3600G>T (p.Glu1200Asp)
c.3462G>T (p.Glu1154Asp)
c.3135G>T (p.Glu1045Asp)
c.3132G>T (p.Glu1044Asp)
c.3231G>T (p.Glu1077Asp)
c.*3159G>T (n.*3159G>T)
c.2106+182937G>T (n.2106+182937G>T)
n.222G>T
3g.184327645G>ACA355416017EIF2B5,EIF4G1c.3721G>A (p.Glu1241Lys)
c.3655G>A (p.Glu1219Lys)
c.3068G>A (n.3068G>A)
c.3124G>A (p.Glu1042Lys)
c.3724G>A (p.Glu1242Lys)
c.3229G>A (p.Glu1077Lys)
c.3742G>A (p.Glu1248Lys)
c.3460G>A (p.Glu1154Lys)
c.3604G>A (p.Glu1202Lys)
c.3601G>A (p.Glu1201Lys)
c.3463G>A (p.Glu1155Lys)
c.3136G>A (p.Glu1046Lys)
c.3133G>A (p.Glu1045Lys)
c.3232G>A (p.Glu1078Lys)
c.*3160G>A (n.*3160G>A)
c.2106+182938G>A (n.2106+182938G>A)
n.223G>A
3g.184327645G>CCA2732906EIF2B5,EIF4G1c.3721G>C (p.Glu1241Gln)
c.3655G>C (p.Glu1219Gln)
c.3068G>C (n.3068G>C)
c.3124G>C (p.Glu1042Gln)
c.3724G>C (p.Glu1242Gln)
c.3229G>C (p.Glu1077Gln)
c.3742G>C (p.Glu1248Gln)
c.3460G>C (p.Glu1154Gln)
c.3604G>C (p.Glu1202Gln)
c.3601G>C (p.Glu1201Gln)
c.3463G>C (p.Glu1155Gln)
c.3136G>C (p.Glu1046Gln)
c.3133G>C (p.Glu1045Gln)
c.3232G>C (p.Glu1078Gln)
c.*3160G>C (n.*3160G>C)
c.2106+182938G>C (n.2106+182938G>C)
n.223G>C
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.184327645G=CA1425958661EIF2B5,EIF4G1c.3721G= (p.Glu1241=)
c.3655G= (p.Glu1219=)
c.3068G= (n.3068G=)
c.3124G= (p.Glu1042=)
c.3724G= (p.Glu1242=)
c.3229G= (p.Glu1077=)
c.3742G= (p.Glu1248=)
c.3460G= (p.Glu1154=)
c.3604G= (p.Glu1202=)
c.3601G= (p.Glu1201=)
c.3463G= (p.Glu1155=)
c.3136G= (p.Glu1046=)
c.3133G= (p.Glu1045=)
c.3232G= (p.Glu1078=)
c.*3160G= (n.*3160G=)
c.2106+182938G= (n.2106+182938G=)
n.223G=
3g.184327645G>TCA355416021EIF2B5,EIF4G1c.3721G>T (p.Glu1241Ter)
c.3655G>T (p.Glu1219Ter)
c.3068G>T (n.3068G>T)
c.3124G>T (p.Glu1042Ter)
c.3724G>T (p.Glu1242Ter)
c.3229G>T (p.Glu1077Ter)
c.3742G>T (p.Glu1248Ter)
c.3460G>T (p.Glu1154Ter)
c.3604G>T (p.Glu1202Ter)
c.3601G>T (p.Glu1201Ter)
c.3463G>T (p.Glu1155Ter)
c.3136G>T (p.Glu1046Ter)
c.3133G>T (p.Glu1045Ter)
c.3232G>T (p.Glu1078Ter)
c.*3160G>T (n.*3160G>T)
c.2106+182938G>T (n.2106+182938G>T)
n.223G>T
3g.184327646A>CCA355416024EIF2B5,EIF4G1c.3722A>C (p.Glu1241Ala)
c.3656A>C (p.Glu1219Ala)
c.3069A>C (n.3069A>C)
c.3125A>C (p.Glu1042Ala)
c.3725A>C (p.Glu1242Ala)
c.3230A>C (p.Glu1077Ala)
c.3743A>C (p.Glu1248Ala)
c.3461A>C (p.Glu1154Ala)
c.3605A>C (p.Glu1202Ala)
c.3602A>C (p.Glu1201Ala)
c.3464A>C (p.Glu1155Ala)
c.3137A>C (p.Glu1046Ala)
c.3134A>C (p.Glu1045Ala)
c.3233A>C (p.Glu1078Ala)
c.*3161A>C (n.*3161A>C)
c.2106+182939A>C (n.2106+182939A>C)
n.224A>C
3g.184327646A>GCA355416026EIF2B5,EIF4G1c.3722A>G (p.Glu1241Gly)
c.3656A>G (p.Glu1219Gly)
c.3069A>G (n.3069A>G)
c.3125A>G (p.Glu1042Gly)
c.3725A>G (p.Glu1242Gly)
c.3230A>G (p.Glu1077Gly)
c.3743A>G (p.Glu1248Gly)
c.3461A>G (p.Glu1154Gly)
c.3605A>G (p.Glu1202Gly)
c.3602A>G (p.Glu1201Gly)
c.3464A>G (p.Glu1155Gly)
c.3137A>G (p.Glu1046Gly)
c.3134A>G (p.Glu1045Gly)
c.3233A>G (p.Glu1078Gly)
c.*3161A>G (n.*3161A>G)
c.2106+182939A>G (n.2106+182939A>G)
n.224A>G
3g.184327646A>TCA355416029EIF2B5,EIF4G1c.3722A>T (p.Glu1241Val)
c.3656A>T (p.Glu1219Val)
c.3069A>T (n.3069A>T)
c.3125A>T (p.Glu1042Val)
c.3725A>T (p.Glu1242Val)
c.3230A>T (p.Glu1077Val)
c.3743A>T (p.Glu1248Val)
c.3461A>T (p.Glu1154Val)
c.3605A>T (p.Glu1202Val)
c.3602A>T (p.Glu1201Val)
c.3464A>T (p.Glu1155Val)
c.3137A>T (p.Glu1046Val)
c.3134A>T (p.Glu1045Val)
c.3233A>T (p.Glu1078Val)
c.*3161A>T (n.*3161A>T)
c.2106+182939A>T (n.2106+182939A>T)
n.224A>T
3g.184327647G>ACA437330605EIF2B5,EIF4G1c.3723G>A (p.Glu1241=)
c.3657G>A (p.Glu1219=)
c.3070G>A (n.3070G>A)
c.3126G>A (p.Glu1042=)
c.3726G>A (p.Glu1242=)
c.3231G>A (p.Glu1077=)
c.3744G>A (p.Glu1248=)
c.3462G>A (p.Glu1154=)
c.3606G>A (p.Glu1202=)
c.3603G>A (p.Glu1201=)
c.3465G>A (p.Glu1155=)
c.3138G>A (p.Glu1046=)
c.3135G>A (p.Glu1045=)
c.3234G>A (p.Glu1078=)
c.*3162G>A (n.*3162G>A)
c.2106+182940G>A (n.2106+182940G>A)
n.225G>A
3g.184327647G>CCA355416033EIF2B5,EIF4G1c.3723G>C (p.Glu1241Asp)
c.3657G>C (p.Glu1219Asp)
c.3070G>C (n.3070G>C)
c.3126G>C (p.Glu1042Asp)
c.3726G>C (p.Glu1242Asp)
c.3231G>C (p.Glu1077Asp)
c.3744G>C (p.Glu1248Asp)
c.3462G>C (p.Glu1154Asp)
c.3606G>C (p.Glu1202Asp)
c.3603G>C (p.Glu1201Asp)
c.3465G>C (p.Glu1155Asp)
c.3138G>C (p.Glu1046Asp)
c.3135G>C (p.Glu1045Asp)
c.3234G>C (p.Glu1078Asp)
c.*3162G>C (n.*3162G>C)
c.2106+182940G>C (n.2106+182940G>C)
n.225G>C
3g.184327647G>TCA355416034EIF2B5,EIF4G1c.3723G>T (p.Glu1241Asp)
c.3657G>T (p.Glu1219Asp)
c.3070G>T (n.3070G>T)
c.3126G>T (p.Glu1042Asp)
c.3726G>T (p.Glu1242Asp)
c.3231G>T (p.Glu1077Asp)
c.3744G>T (p.Glu1248Asp)
c.3462G>T (p.Glu1154Asp)
c.3606G>T (p.Glu1202Asp)
c.3603G>T (p.Glu1201Asp)
c.3465G>T (p.Glu1155Asp)
c.3138G>T (p.Glu1046Asp)
c.3135G>T (p.Glu1045Asp)
c.3234G>T (p.Glu1078Asp)
c.*3162G>T (n.*3162G>T)
c.2106+182940G>T (n.2106+182940G>T)
n.225G>T
3g.184327648T>ACA355416035EIF2B5,EIF4G1c.3724T>A (p.Leu1242Ile)
c.3658T>A (p.Leu1220Ile)
c.3071T>A (n.3071T>A)
c.3127T>A (p.Leu1043Ile)
c.3727T>A (p.Leu1243Ile)
c.3232T>A (p.Leu1078Ile)
c.3745T>A (p.Leu1249Ile)
c.3463T>A (p.Leu1155Ile)
c.3607T>A (p.Leu1203Ile)
c.3604T>A (p.Leu1202Ile)
c.3466T>A (p.Leu1156Ile)
c.3139T>A (p.Leu1047Ile)
c.3136T>A (p.Leu1046Ile)
c.3235T>A (p.Leu1079Ile)
c.*3163T>A (n.*3163T>A)
c.2106+182941T>A (n.2106+182941T>A)
n.226T>A
3g.184327648T>CCA437330606EIF2B5,EIF4G1c.3724T>C (p.Leu1242=)
c.3658T>C (p.Leu1220=)
c.3071T>C (n.3071T>C)
c.3127T>C (p.Leu1043=)
c.3727T>C (p.Leu1243=)
c.3232T>C (p.Leu1078=)
c.3745T>C (p.Leu1249=)
c.3463T>C (p.Leu1155=)
c.3607T>C (p.Leu1203=)
c.3604T>C (p.Leu1202=)
c.3466T>C (p.Leu1156=)
c.3139T>C (p.Leu1047=)
c.3136T>C (p.Leu1046=)
c.3235T>C (p.Leu1079=)
c.*3163T>C (n.*3163T>C)
c.2106+182941T>C (n.2106+182941T>C)
n.226T>C
3g.184327648T>GCA355416036EIF2B5,EIF4G1c.3724T>G (p.Leu1242Val)
c.3658T>G (p.Leu1220Val)
c.3071T>G (n.3071T>G)
c.3127T>G (p.Leu1043Val)
c.3727T>G (p.Leu1243Val)
c.3232T>G (p.Leu1078Val)
c.3745T>G (p.Leu1249Val)
c.3463T>G (p.Leu1155Val)
c.3607T>G (p.Leu1203Val)
c.3604T>G (p.Leu1202Val)
c.3466T>G (p.Leu1156Val)
c.3139T>G (p.Leu1047Val)
c.3136T>G (p.Leu1046Val)
c.3235T>G (p.Leu1079Val)
c.*3163T>G (n.*3163T>G)
c.2106+182941T>G (n.2106+182941T>G)
n.226T>G
3g.184327649T>ACA355416038EIF2B5,EIF4G1c.3725T>A (p.Leu1242Ter)
c.3659T>A (p.Leu1220Ter)
c.3072T>A (n.3072T>A)
c.3128T>A (p.Leu1043Ter)
c.3728T>A (p.Leu1243Ter)
c.3233T>A (p.Leu1078Ter)
c.3746T>A (p.Leu1249Ter)
c.3464T>A (p.Leu1155Ter)
c.3608T>A (p.Leu1203Ter)
c.3605T>A (p.Leu1202Ter)
c.3467T>A (p.Leu1156Ter)
c.3140T>A (p.Leu1047Ter)
c.3137T>A (p.Leu1046Ter)
c.3236T>A (p.Leu1079Ter)
c.*3164T>A (n.*3164T>A)
c.2106+182942T>A (n.2106+182942T>A)
n.227T>A
3g.184327649T>CCA355416039EIF2B5,EIF4G1c.3725T>C (p.Leu1242Ser)
c.3659T>C (p.Leu1220Ser)
c.3072T>C (n.3072T>C)
c.3128T>C (p.Leu1043Ser)
c.3728T>C (p.Leu1243Ser)
c.3233T>C (p.Leu1078Ser)
c.3746T>C (p.Leu1249Ser)
c.3464T>C (p.Leu1155Ser)
c.3608T>C (p.Leu1203Ser)
c.3605T>C (p.Leu1202Ser)
c.3467T>C (p.Leu1156Ser)
c.3140T>C (p.Leu1047Ser)
c.3137T>C (p.Leu1046Ser)
c.3236T>C (p.Leu1079Ser)
c.*3164T>C (n.*3164T>C)
c.2106+182942T>C (n.2106+182942T>C)
n.227T>C
3g.184327649T>GCA355416042EIF2B5,EIF4G1c.3725T>G (p.Leu1242Ter)
c.3659T>G (p.Leu1220Ter)
c.3072T>G (n.3072T>G)
c.3128T>G (p.Leu1043Ter)
c.3728T>G (p.Leu1243Ter)
c.3233T>G (p.Leu1078Ter)
c.3746T>G (p.Leu1249Ter)
c.3464T>G (p.Leu1155Ter)
c.3608T>G (p.Leu1203Ter)
c.3605T>G (p.Leu1202Ter)
c.3467T>G (p.Leu1156Ter)
c.3140T>G (p.Leu1047Ter)
c.3137T>G (p.Leu1046Ter)
c.3236T>G (p.Leu1079Ter)
c.*3164T>G (n.*3164T>G)
c.2106+182942T>G (n.2106+182942T>G)
n.227T>G
3g.184327650A>CCA355416048EIF2B5,EIF4G1c.3726A>C (p.Leu1242Phe)
c.3660A>C (p.Leu1220Phe)
c.3073A>C (n.3073A>C)
c.3129A>C (p.Leu1043Phe)
c.3729A>C (p.Leu1243Phe)
c.3234A>C (p.Leu1078Phe)
c.3747A>C (p.Leu1249Phe)
c.3465A>C (p.Leu1155Phe)
c.3609A>C (p.Leu1203Phe)
c.3606A>C (p.Leu1202Phe)
c.3468A>C (p.Leu1156Phe)
c.3141A>C (p.Leu1047Phe)
c.3138A>C (p.Leu1046Phe)
c.3237A>C (p.Leu1079Phe)
c.*3165A>C (n.*3165A>C)
c.2106+182943A>C (n.2106+182943A>C)
n.228A>C
3g.184327650A>GCA437330608EIF2B5,EIF4G1c.3726A>G (p.Leu1242=)
c.3660A>G (p.Leu1220=)
c.3073A>G (n.3073A>G)
c.3129A>G (p.Leu1043=)
c.3729A>G (p.Leu1243=)
c.3234A>G (p.Leu1078=)
c.3747A>G (p.Leu1249=)
c.3465A>G (p.Leu1155=)
c.3609A>G (p.Leu1203=)
c.3606A>G (p.Leu1202=)
c.3468A>G (p.Leu1156=)
c.3141A>G (p.Leu1047=)
c.3138A>G (p.Leu1046=)
c.3237A>G (p.Leu1079=)
c.*3165A>G (n.*3165A>G)
c.2106+182943A>G (n.2106+182943A>G)
n.228A>G
3g.184327650A>TCA355416046EIF2B5,EIF4G1c.3726A>T (p.Leu1242Phe)
c.3660A>T (p.Leu1220Phe)
c.3073A>T (n.3073A>T)
c.3129A>T (p.Leu1043Phe)
c.3729A>T (p.Leu1243Phe)
c.3234A>T (p.Leu1078Phe)
c.3747A>T (p.Leu1249Phe)
c.3465A>T (p.Leu1155Phe)
c.3609A>T (p.Leu1203Phe)
c.3606A>T (p.Leu1202Phe)
c.3468A>T (p.Leu1156Phe)
c.3141A>T (p.Leu1047Phe)
c.3138A>T (p.Leu1046Phe)
c.3237A>T (p.Leu1079Phe)
c.*3165A>T (n.*3165A>T)
c.2106+182943A>T (n.2106+182943A>T)
n.228A>T
3g.184327651G>ACA355416051EIF2B5,EIF4G1c.3727G>A (p.Glu1243Lys)
c.3661G>A (p.Glu1221Lys)
c.3074G>A (n.3074G>A)
c.3130G>A (p.Glu1044Lys)
c.3730G>A (p.Glu1244Lys)
c.3235G>A (p.Glu1079Lys)
c.3748G>A (p.Glu1250Lys)
c.3466G>A (p.Glu1156Lys)
c.3610G>A (p.Glu1204Lys)
c.3607G>A (p.Glu1203Lys)
c.3469G>A (p.Glu1157Lys)
c.3142G>A (p.Glu1048Lys)
c.3139G>A (p.Glu1047Lys)
c.3238G>A (p.Glu1080Lys)
c.*3166G>A (n.*3166G>A)
c.2106+182944G>A (n.2106+182944G>A)
n.229G>A
3g.184327651G>CCA355416053EIF2B5,EIF4G1c.3727G>C (p.Glu1243Gln)
c.3661G>C (p.Glu1221Gln)
c.3074G>C (n.3074G>C)
c.3130G>C (p.Glu1044Gln)
c.3730G>C (p.Glu1244Gln)
c.3235G>C (p.Glu1079Gln)
c.3748G>C (p.Glu1250Gln)
c.3466G>C (p.Glu1156Gln)
c.3610G>C (p.Glu1204Gln)
c.3607G>C (p.Glu1203Gln)
c.3469G>C (p.Glu1157Gln)
c.3142G>C (p.Glu1048Gln)
c.3139G>C (p.Glu1047Gln)
c.3238G>C (p.Glu1080Gln)
c.*3166G>C (n.*3166G>C)
c.2106+182944G>C (n.2106+182944G>C)
n.229G>C
3g.184327651G>TCA355416055EIF2B5,EIF4G1c.3727G>T (p.Glu1243Ter)
c.3661G>T (p.Glu1221Ter)
c.3074G>T (n.3074G>T)
c.3130G>T (p.Glu1044Ter)
c.3730G>T (p.Glu1244Ter)
c.3235G>T (p.Glu1079Ter)
c.3748G>T (p.Glu1250Ter)
c.3466G>T (p.Glu1156Ter)
c.3610G>T (p.Glu1204Ter)
c.3607G>T (p.Glu1203Ter)
c.3469G>T (p.Glu1157Ter)
c.3142G>T (p.Glu1048Ter)
c.3139G>T (p.Glu1047Ter)
c.3238G>T (p.Glu1080Ter)
c.*3166G>T (n.*3166G>T)
c.2106+182944G>T (n.2106+182944G>T)
n.229G>T
3g.184327652A>CCA355416057EIF2B5,EIF4G1c.3728A>C (p.Glu1243Ala)
c.3662A>C (p.Glu1221Ala)
c.3075A>C (n.3075A>C)
c.3131A>C (p.Glu1044Ala)
c.3731A>C (p.Glu1244Ala)
c.3236A>C (p.Glu1079Ala)
c.3749A>C (p.Glu1250Ala)
c.3467A>C (p.Glu1156Ala)
c.3611A>C (p.Glu1204Ala)
c.3608A>C (p.Glu1203Ala)
c.3470A>C (p.Glu1157Ala)
c.3143A>C (p.Glu1048Ala)
c.3140A>C (p.Glu1047Ala)
c.3239A>C (p.Glu1080Ala)
c.*3167A>C (n.*3167A>C)
c.2106+182945A>C (n.2106+182945A>C)
n.230A>C
3g.184327652A>GCA355416058EIF2B5,EIF4G1c.3728A>G (p.Glu1243Gly)
c.3662A>G (p.Glu1221Gly)
c.3075A>G (n.3075A>G)
c.3131A>G (p.Glu1044Gly)
c.3731A>G (p.Glu1244Gly)
c.3236A>G (p.Glu1079Gly)
c.3749A>G (p.Glu1250Gly)
c.3467A>G (p.Glu1156Gly)
c.3611A>G (p.Glu1204Gly)
c.3608A>G (p.Glu1203Gly)
c.3470A>G (p.Glu1157Gly)
c.3143A>G (p.Glu1048Gly)
c.3140A>G (p.Glu1047Gly)
c.3239A>G (p.Glu1080Gly)
c.*3167A>G (n.*3167A>G)
c.2106+182945A>G (n.2106+182945A>G)
n.230A>G
 gnomAD v4
3g.184327652A>TCA355416061EIF2B5,EIF4G1c.3728A>T (p.Glu1243Val)
c.3662A>T (p.Glu1221Val)
c.3075A>T (n.3075A>T)
c.3131A>T (p.Glu1044Val)
c.3731A>T (p.Glu1244Val)
c.3236A>T (p.Glu1079Val)
c.3749A>T (p.Glu1250Val)
c.3467A>T (p.Glu1156Val)
c.3611A>T (p.Glu1204Val)
c.3608A>T (p.Glu1203Val)
c.3470A>T (p.Glu1157Val)
c.3143A>T (p.Glu1048Val)
c.3140A>T (p.Glu1047Val)
c.3239A>T (p.Glu1080Val)
c.*3167A>T (n.*3167A>T)
c.2106+182945A>T (n.2106+182945A>T)
n.230A>T
3g.184327653G>ACA437330612EIF2B5,EIF4G1c.3729G>A (p.Glu1243=)
c.3663G>A (p.Glu1221=)
c.3076G>A (n.3076G>A)
c.3132G>A (p.Glu1044=)
c.3732G>A (p.Glu1244=)
c.3237G>A (p.Glu1079=)
c.3750G>A (p.Glu1250=)
c.3468G>A (p.Glu1156=)
c.3612G>A (p.Glu1204=)
c.3609G>A (p.Glu1203=)
c.3471G>A (p.Glu1157=)
c.3144G>A (p.Glu1048=)
c.3141G>A (p.Glu1047=)
c.3240G>A (p.Glu1080=)
c.*3168G>A (n.*3168G>A)
c.2106+182946G>A (n.2106+182946G>A)
n.231G>A
3g.184327653G>CCA355416065EIF2B5,EIF4G1c.3729G>C (p.Glu1243Asp)
c.3663G>C (p.Glu1221Asp)
c.3076G>C (n.3076G>C)
c.3132G>C (p.Glu1044Asp)
c.3732G>C (p.Glu1244Asp)
c.3237G>C (p.Glu1079Asp)
c.3750G>C (p.Glu1250Asp)
c.3468G>C (p.Glu1156Asp)
c.3612G>C (p.Glu1204Asp)
c.3609G>C (p.Glu1203Asp)
c.3471G>C (p.Glu1157Asp)
c.3144G>C (p.Glu1048Asp)
c.3141G>C (p.Glu1047Asp)
c.3240G>C (p.Glu1080Asp)
c.*3168G>C (n.*3168G>C)
c.2106+182946G>C (n.2106+182946G>C)
n.231G>C
3g.184327653G>TCA355416066EIF2B5,EIF4G1c.3729G>T (p.Glu1243Asp)
c.3663G>T (p.Glu1221Asp)
c.3076G>T (n.3076G>T)
c.3132G>T (p.Glu1044Asp)
c.3732G>T (p.Glu1244Asp)
c.3237G>T (p.Glu1079Asp)
c.3750G>T (p.Glu1250Asp)
c.3468G>T (p.Glu1156Asp)
c.3612G>T (p.Glu1204Asp)
c.3609G>T (p.Glu1203Asp)
c.3471G>T (p.Glu1157Asp)
c.3144G>T (p.Glu1048Asp)
c.3141G>T (p.Glu1047Asp)
c.3240G>T (p.Glu1080Asp)
c.*3168G>T (n.*3168G>T)
c.2106+182946G>T (n.2106+182946G>T)
n.231G>T
3g.184327654A>CCA355416069EIF2B5,EIF4G1c.3730A>C (p.Lys1244Gln)
c.3664A>C (p.Lys1222Gln)
c.3077A>C (n.3077A>C)
c.3133A>C (p.Lys1045Gln)
c.3733A>C (p.Lys1245Gln)
c.3238A>C (p.Lys1080Gln)
c.3751A>C (p.Lys1251Gln)
c.3469A>C (p.Lys1157Gln)
c.3613A>C (p.Lys1205Gln)
c.3610A>C (p.Lys1204Gln)
c.3472A>C (p.Lys1158Gln)
c.3145A>C (p.Lys1049Gln)
c.3142A>C (p.Lys1048Gln)
c.3241A>C (p.Lys1081Gln)
c.*3169A>C (n.*3169A>C)
c.2106+182947A>C (n.2106+182947A>C)
n.232A>C
3g.184327654A>GCA355416074EIF2B5,EIF4G1c.3730A>G (p.Lys1244Glu)
c.3664A>G (p.Lys1222Glu)
c.3077A>G (n.3077A>G)
c.3133A>G (p.Lys1045Glu)
c.3733A>G (p.Lys1245Glu)
c.3238A>G (p.Lys1080Glu)
c.3751A>G (p.Lys1251Glu)
c.3469A>G (p.Lys1157Glu)
c.3613A>G (p.Lys1205Glu)
c.3610A>G (p.Lys1204Glu)
c.3472A>G (p.Lys1158Glu)
c.3145A>G (p.Lys1049Glu)
c.3142A>G (p.Lys1048Glu)
c.3241A>G (p.Lys1081Glu)
c.*3169A>G (n.*3169A>G)
c.2106+182947A>G (n.2106+182947A>G)
n.232A>G
3g.184327654A>TCA355416075EIF2B5,EIF4G1c.3730A>T (p.Lys1244Ter)
c.3664A>T (p.Lys1222Ter)
c.3077A>T (n.3077A>T)
c.3133A>T (p.Lys1045Ter)
c.3733A>T (p.Lys1245Ter)
c.3238A>T (p.Lys1080Ter)
c.3751A>T (p.Lys1251Ter)
c.3469A>T (p.Lys1157Ter)
c.3613A>T (p.Lys1205Ter)
c.3610A>T (p.Lys1204Ter)
c.3472A>T (p.Lys1158Ter)
c.3145A>T (p.Lys1049Ter)
c.3142A>T (p.Lys1048Ter)
c.3241A>T (p.Lys1081Ter)
c.*3169A>T (n.*3169A>T)
c.2106+182947A>T (n.2106+182947A>T)
n.232A>T
3g.184327655A>CCA355416080EIF2B5,EIF4G1c.3731A>C (p.Lys1244Thr)
c.3665A>C (p.Lys1222Thr)
c.3078A>C (n.3078A>C)
c.3134A>C (p.Lys1045Thr)
c.3734A>C (p.Lys1245Thr)
c.3239A>C (p.Lys1080Thr)
c.3752A>C (p.Lys1251Thr)
c.3470A>C (p.Lys1157Thr)
c.3614A>C (p.Lys1205Thr)
c.3611A>C (p.Lys1204Thr)
c.3473A>C (p.Lys1158Thr)
c.3146A>C (p.Lys1049Thr)
c.3143A>C (p.Lys1048Thr)
c.3242A>C (p.Lys1081Thr)
c.*3170A>C (n.*3170A>C)
c.2106+182948A>C (n.2106+182948A>C)
n.233A>C
3g.184327655A>GCA355416082EIF2B5,EIF4G1c.3731A>G (p.Lys1244Arg)
c.3665A>G (p.Lys1222Arg)
c.3078A>G (n.3078A>G)
c.3134A>G (p.Lys1045Arg)
c.3734A>G (p.Lys1245Arg)
c.3239A>G (p.Lys1080Arg)
c.3752A>G (p.Lys1251Arg)
c.3470A>G (p.Lys1157Arg)
c.3614A>G (p.Lys1205Arg)
c.3611A>G (p.Lys1204Arg)
c.3473A>G (p.Lys1158Arg)
c.3146A>G (p.Lys1049Arg)
c.3143A>G (p.Lys1048Arg)
c.3242A>G (p.Lys1081Arg)
c.*3170A>G (n.*3170A>G)
c.2106+182948A>G (n.2106+182948A>G)
n.233A>G
 gnomAD v4
3g.184327655A>TCA355416083EIF2B5,EIF4G1c.3731A>T (p.Lys1244Met)
c.3665A>T (p.Lys1222Met)
c.3078A>T (n.3078A>T)
c.3134A>T (p.Lys1045Met)
c.3734A>T (p.Lys1245Met)
c.3239A>T (p.Lys1080Met)
c.3752A>T (p.Lys1251Met)
c.3470A>T (p.Lys1157Met)
c.3614A>T (p.Lys1205Met)
c.3611A>T (p.Lys1204Met)
c.3473A>T (p.Lys1158Met)
c.3146A>T (p.Lys1049Met)
c.3143A>T (p.Lys1048Met)
c.3242A>T (p.Lys1081Met)
c.*3170A>T (n.*3170A>T)
c.2106+182948A>T (n.2106+182948A>T)
n.233A>T
3g.184327656G>ACA437330614EIF2B5,EIF4G1c.3732G>A (p.Lys1244=)
c.3666G>A (p.Lys1222=)
c.3079G>A (n.3079G>A)
c.3135G>A (p.Lys1045=)
c.3735G>A (p.Lys1245=)
c.3240G>A (p.Lys1080=)
c.3753G>A (p.Lys1251=)
c.3471G>A (p.Lys1157=)
c.3615G>A (p.Lys1205=)
c.3612G>A (p.Lys1204=)
c.3474G>A (p.Lys1158=)
c.3147G>A (p.Lys1049=)
c.3144G>A (p.Lys1048=)
c.3243G>A (p.Lys1081=)
c.*3171G>A (n.*3171G>A)
c.2106+182949G>A (n.2106+182949G>A)
n.234G>A
3g.184327656G>CCA355416087EIF2B5,EIF4G1c.3732G>C (p.Lys1244Asn)
c.3666G>C (p.Lys1222Asn)
c.3079G>C (n.3079G>C)
c.3135G>C (p.Lys1045Asn)
c.3735G>C (p.Lys1245Asn)
c.3240G>C (p.Lys1080Asn)
c.3753G>C (p.Lys1251Asn)
c.3471G>C (p.Lys1157Asn)
c.3615G>C (p.Lys1205Asn)
c.3612G>C (p.Lys1204Asn)
c.3474G>C (p.Lys1158Asn)
c.3147G>C (p.Lys1049Asn)
c.3144G>C (p.Lys1048Asn)
c.3243G>C (p.Lys1081Asn)
c.*3171G>C (n.*3171G>C)
c.2106+182949G>C (n.2106+182949G>C)
n.234G>C
3g.184327656G>TCA355416089EIF2B5,EIF4G1c.3732G>T (p.Lys1244Asn)
c.3666G>T (p.Lys1222Asn)
c.3079G>T (n.3079G>T)
c.3135G>T (p.Lys1045Asn)
c.3735G>T (p.Lys1245Asn)
c.3240G>T (p.Lys1080Asn)
c.3753G>T (p.Lys1251Asn)
c.3471G>T (p.Lys1157Asn)
c.3615G>T (p.Lys1205Asn)
c.3612G>T (p.Lys1204Asn)
c.3474G>T (p.Lys1158Asn)
c.3147G>T (p.Lys1049Asn)
c.3144G>T (p.Lys1048Asn)
c.3243G>T (p.Lys1081Asn)
c.*3171G>T (n.*3171G>T)
c.2106+182949G>T (n.2106+182949G>T)
n.234G>T
3g.184327657A>CCA355416092EIF2B5,EIF4G1c.3733A>C (p.Lys1245Gln)
c.3667A>C (p.Lys1223Gln)
c.3080A>C (n.3080A>C)
c.3136A>C (p.Lys1046Gln)
c.3736A>C (p.Lys1246Gln)
c.3241A>C (p.Lys1081Gln)
c.3754A>C (p.Lys1252Gln)
c.3472A>C (p.Lys1158Gln)
c.3616A>C (p.Lys1206Gln)
c.3613A>C (p.Lys1205Gln)
c.3475A>C (p.Lys1159Gln)
c.3148A>C (p.Lys1050Gln)
c.3145A>C (p.Lys1049Gln)
c.3244A>C (p.Lys1082Gln)
c.*3172A>C (n.*3172A>C)
c.2106+182950A>C (n.2106+182950A>C)
n.235A>C
3g.184327657A>GCA355416097EIF2B5,EIF4G1c.3733A>G (p.Lys1245Glu)
c.3667A>G (p.Lys1223Glu)
c.3080A>G (n.3080A>G)
c.3136A>G (p.Lys1046Glu)
c.3736A>G (p.Lys1246Glu)
c.3241A>G (p.Lys1081Glu)
c.3754A>G (p.Lys1252Glu)
c.3472A>G (p.Lys1158Glu)
c.3616A>G (p.Lys1206Glu)
c.3613A>G (p.Lys1205Glu)
c.3475A>G (p.Lys1159Glu)
c.3148A>G (p.Lys1050Glu)
c.3145A>G (p.Lys1049Glu)
c.3244A>G (p.Lys1082Glu)
c.*3172A>G (n.*3172A>G)
c.2106+182950A>G (n.2106+182950A>G)
n.235A>G
3g.184327657A>TCA355416094EIF2B5,EIF4G1c.3733A>T (p.Lys1245Ter)
c.3667A>T (p.Lys1223Ter)
c.3080A>T (n.3080A>T)
c.3136A>T (p.Lys1046Ter)
c.3736A>T (p.Lys1246Ter)
c.3241A>T (p.Lys1081Ter)
c.3754A>T (p.Lys1252Ter)
c.3472A>T (p.Lys1158Ter)
c.3616A>T (p.Lys1206Ter)
c.3613A>T (p.Lys1205Ter)
c.3475A>T (p.Lys1159Ter)
c.3148A>T (p.Lys1050Ter)
c.3145A>T (p.Lys1049Ter)
c.3244A>T (p.Lys1082Ter)
c.*3172A>T (n.*3172A>T)
c.2106+182950A>T (n.2106+182950A>T)
n.235A>T
3g.184327658A=CA1425958664EIF2B5,EIF4G1c.3734A= (p.Lys1245=)
c.3668A= (p.Lys1223=)
c.3081A= (n.3081A=)
c.3137A= (p.Lys1046=)
c.3737A= (p.Lys1246=)
c.3242A= (p.Lys1081=)
c.3755A= (p.Lys1252=)
c.3473A= (p.Lys1158=)
c.3617A= (p.Lys1206=)
c.3614A= (p.Lys1205=)
c.3476A= (p.Lys1159=)
c.3149A= (p.Lys1050=)
c.3146A= (p.Lys1049=)
c.3245A= (p.Lys1082=)
c.*3173A= (n.*3173A=)
c.2106+182951A= (n.2106+182951A=)
n.236A=
3g.184327658A>CCA355416099EIF2B5,EIF4G1c.3734A>C (p.Lys1245Thr)
c.3668A>C (p.Lys1223Thr)
c.3081A>C (n.3081A>C)
c.3137A>C (p.Lys1046Thr)
c.3737A>C (p.Lys1246Thr)
c.3242A>C (p.Lys1081Thr)
c.3755A>C (p.Lys1252Thr)
c.3473A>C (p.Lys1158Thr)
c.3617A>C (p.Lys1206Thr)
c.3614A>C (p.Lys1205Thr)
c.3476A>C (p.Lys1159Thr)
c.3149A>C (p.Lys1050Thr)
c.3146A>C (p.Lys1049Thr)
c.3245A>C (p.Lys1082Thr)
c.*3173A>C (n.*3173A>C)
c.2106+182951A>C (n.2106+182951A>C)
n.236A>C
3g.184327658A>GCA355416101EIF2B5,EIF4G1c.3734A>G (p.Lys1245Arg)
c.3668A>G (p.Lys1223Arg)
c.3081A>G (n.3081A>G)
c.3137A>G (p.Lys1046Arg)
c.3737A>G (p.Lys1246Arg)
c.3242A>G (p.Lys1081Arg)
c.3755A>G (p.Lys1252Arg)
c.3473A>G (p.Lys1158Arg)
c.3617A>G (p.Lys1206Arg)
c.3614A>G (p.Lys1205Arg)
c.3476A>G (p.Lys1159Arg)
c.3149A>G (p.Lys1050Arg)
c.3146A>G (p.Lys1049Arg)
c.3245A>G (p.Lys1082Arg)
c.*3173A>G (n.*3173A>G)
c.2106+182951A>G (n.2106+182951A>G)
n.236A>G
 dbSNP gnomAD v2
3g.184327658A>TCA355416103EIF2B5,EIF4G1c.3734A>T (p.Lys1245Ile)
c.3668A>T (p.Lys1223Ile)
c.3081A>T (n.3081A>T)
c.3137A>T (p.Lys1046Ile)
c.3737A>T (p.Lys1246Ile)
c.3242A>T (p.Lys1081Ile)
c.3755A>T (p.Lys1252Ile)
c.3473A>T (p.Lys1158Ile)
c.3617A>T (p.Lys1206Ile)
c.3614A>T (p.Lys1205Ile)
c.3476A>T (p.Lys1159Ile)
c.3149A>T (p.Lys1050Ile)
c.3146A>T (p.Lys1049Ile)
c.3245A>T (p.Lys1082Ile)
c.*3173A>T (n.*3173A>T)
c.2106+182951A>T (n.2106+182951A>T)
n.236A>T
3g.184327659A=CA1425958666EIF2B5,EIF4G1c.3735A= (p.Lys1245=)
c.3669A= (p.Lys1223=)
c.3082A= (n.3082A=)
c.3138A= (p.Lys1046=)
c.3738A= (p.Lys1246=)
c.3243A= (p.Lys1081=)
c.3756A= (p.Lys1252=)
c.3474A= (p.Lys1158=)
c.3618A= (p.Lys1206=)
c.3615A= (p.Lys1205=)
c.3477A= (p.Lys1159=)
c.3150A= (p.Lys1050=)
c.3147A= (p.Lys1049=)
c.3246A= (p.Lys1082=)
c.*3174A= (n.*3174A=)
c.2106+182952A= (n.2106+182952A=)
n.237A=
3g.184327659A>CCA355416108EIF2B5,EIF4G1c.3735A>C (p.Lys1245Asn)
c.3669A>C (p.Lys1223Asn)
c.3082A>C (n.3082A>C)
c.3138A>C (p.Lys1046Asn)
c.3738A>C (p.Lys1246Asn)
c.3243A>C (p.Lys1081Asn)
c.3756A>C (p.Lys1252Asn)
c.3474A>C (p.Lys1158Asn)
c.3618A>C (p.Lys1206Asn)
c.3615A>C (p.Lys1205Asn)
c.3477A>C (p.Lys1159Asn)
c.3150A>C (p.Lys1050Asn)
c.3147A>C (p.Lys1049Asn)
c.3246A>C (p.Lys1082Asn)
c.*3174A>C (n.*3174A>C)
c.2106+182952A>C (n.2106+182952A>C)
n.237A>C
3g.184327659A>GCA2732907EIF2B5,EIF4G1c.3735A>G (p.Lys1245=)
c.3669A>G (p.Lys1223=)
c.3082A>G (n.3082A>G)
c.3138A>G (p.Lys1046=)
c.3738A>G (p.Lys1246=)
c.3243A>G (p.Lys1081=)
c.3756A>G (p.Lys1252=)
c.3474A>G (p.Lys1158=)
c.3618A>G (p.Lys1206=)
c.3615A>G (p.Lys1205=)
c.3477A>G (p.Lys1159=)
c.3150A>G (p.Lys1050=)
c.3147A>G (p.Lys1049=)
c.3246A>G (p.Lys1082=)
c.*3174A>G (n.*3174A>G)
c.2106+182952A>G (n.2106+182952A>G)
n.237A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.184327659A>TCA355416112EIF2B5,EIF4G1c.3735A>T (p.Lys1245Asn)
c.3669A>T (p.Lys1223Asn)
c.3082A>T (n.3082A>T)
c.3138A>T (p.Lys1046Asn)
c.3738A>T (p.Lys1246Asn)
c.3243A>T (p.Lys1081Asn)
c.3756A>T (p.Lys1252Asn)
c.3474A>T (p.Lys1158Asn)
c.3618A>T (p.Lys1206Asn)
c.3615A>T (p.Lys1205Asn)
c.3477A>T (p.Lys1159Asn)
c.3150A>T (p.Lys1050Asn)
c.3147A>T (p.Lys1049Asn)
c.3246A>T (p.Lys1082Asn)
c.*3174A>T (n.*3174A>T)
c.2106+182952A>T (n.2106+182952A>T)
n.237A>T
3g.184327660T>ACA355416116EIF2B5,EIF4G1c.3736T>A (p.Ser1246Thr)
c.3670T>A (p.Ser1224Thr)
c.3083T>A (n.3083T>A)
c.3139T>A (p.Ser1047Thr)
c.3739T>A (p.Ser1247Thr)
c.3244T>A (p.Ser1082Thr)
c.3757T>A (p.Ser1253Thr)
c.3475T>A (p.Ser1159Thr)
c.3619T>A (p.Ser1207Thr)
c.3616T>A (p.Ser1206Thr)
c.3478T>A (p.Ser1160Thr)
c.3151T>A (p.Ser1051Thr)
c.3148T>A (p.Ser1050Thr)
c.3247T>A (p.Ser1083Thr)
c.*3175T>A (n.*3175T>A)
c.2106+182953T>A (n.2106+182953T>A)
n.238T>A
3g.184327660T>CCA355416119EIF2B5,EIF4G1c.3736T>C (p.Ser1246Pro)
c.3670T>C (p.Ser1224Pro)
c.3083T>C (n.3083T>C)
c.3139T>C (p.Ser1047Pro)
c.3739T>C (p.Ser1247Pro)
c.3244T>C (p.Ser1082Pro)
c.3757T>C (p.Ser1253Pro)
c.3475T>C (p.Ser1159Pro)
c.3619T>C (p.Ser1207Pro)
c.3616T>C (p.Ser1206Pro)
c.3478T>C (p.Ser1160Pro)
c.3151T>C (p.Ser1051Pro)
c.3148T>C (p.Ser1050Pro)
c.3247T>C (p.Ser1083Pro)
c.*3175T>C (n.*3175T>C)
c.2106+182953T>C (n.2106+182953T>C)
n.238T>C
 gnomAD v4
3g.184327660T>GCA355416121EIF2B5,EIF4G1c.3736T>G (p.Ser1246Ala)
c.3670T>G (p.Ser1224Ala)
c.3083T>G (n.3083T>G)
c.3139T>G (p.Ser1047Ala)
c.3739T>G (p.Ser1247Ala)
c.3244T>G (p.Ser1082Ala)
c.3757T>G (p.Ser1253Ala)
c.3475T>G (p.Ser1159Ala)
c.3619T>G (p.Ser1207Ala)
c.3616T>G (p.Ser1206Ala)
c.3478T>G (p.Ser1160Ala)
c.3151T>G (p.Ser1051Ala)
c.3148T>G (p.Ser1050Ala)
c.3247T>G (p.Ser1083Ala)
c.*3175T>G (n.*3175T>G)
c.2106+182953T>G (n.2106+182953T>G)
n.238T>G
3g.184327661C>ACA355416125EIF2B5,EIF4G1c.3737C>A (p.Ser1246Tyr)
c.3671C>A (p.Ser1224Tyr)
c.3084C>A (n.3084C>A)
c.3140C>A (p.Ser1047Tyr)
c.3740C>A (p.Ser1247Tyr)
c.3245C>A (p.Ser1082Tyr)
c.3758C>A (p.Ser1253Tyr)
c.3476C>A (p.Ser1159Tyr)
c.3620C>A (p.Ser1207Tyr)
c.3617C>A (p.Ser1206Tyr)
c.3479C>A (p.Ser1160Tyr)
c.3152C>A (p.Ser1051Tyr)
c.3149C>A (p.Ser1050Tyr)
c.3248C>A (p.Ser1083Tyr)
c.*3176C>A (n.*3176C>A)
c.2106+182954C>A (n.2106+182954C>A)
n.239C>A
3g.184327661C>GCA355416128EIF2B5,EIF4G1c.3737C>G (p.Ser1246Cys)
c.3671C>G (p.Ser1224Cys)
c.3084C>G (n.3084C>G)
c.3140C>G (p.Ser1047Cys)
c.3740C>G (p.Ser1247Cys)
c.3245C>G (p.Ser1082Cys)
c.3758C>G (p.Ser1253Cys)
c.3476C>G (p.Ser1159Cys)
c.3620C>G (p.Ser1207Cys)
c.3617C>G (p.Ser1206Cys)
c.3479C>G (p.Ser1160Cys)
c.3152C>G (p.Ser1051Cys)
c.3149C>G (p.Ser1050Cys)
c.3248C>G (p.Ser1083Cys)
c.*3176C>G (n.*3176C>G)
c.2106+182954C>G (n.2106+182954C>G)
n.239C>G
 gnomAD v4
3g.184327661C>TCA355416130EIF2B5,EIF4G1c.3737C>T (p.Ser1246Phe)
c.3671C>T (p.Ser1224Phe)
c.3084C>T (n.3084C>T)
c.3140C>T (p.Ser1047Phe)
c.3740C>T (p.Ser1247Phe)
c.3245C>T (p.Ser1082Phe)
c.3758C>T (p.Ser1253Phe)
c.3476C>T (p.Ser1159Phe)
c.3620C>T (p.Ser1207Phe)
c.3617C>T (p.Ser1206Phe)
c.3479C>T (p.Ser1160Phe)
c.3152C>T (p.Ser1051Phe)
c.3149C>T (p.Ser1050Phe)
c.3248C>T (p.Ser1083Phe)
c.*3176C>T (n.*3176C>T)
c.2106+182954C>T (n.2106+182954C>T)
n.239C>T
 gnomAD v4
3g.184327662C>ACA437330622EIF2B5,EIF4G1c.3738C>A (p.Ser1246=)
c.3672C>A (p.Ser1224=)
c.3085C>A (n.3085C>A)
c.3141C>A (p.Ser1047=)
c.3741C>A (p.Ser1247=)
c.3246C>A (p.Ser1082=)
c.3759C>A (p.Ser1253=)
c.3477C>A (p.Ser1159=)
c.3621C>A (p.Ser1207=)
c.3618C>A (p.Ser1206=)
c.3480C>A (p.Ser1160=)
c.3153C>A (p.Ser1051=)
c.3150C>A (p.Ser1050=)
c.3249C>A (p.Ser1083=)
c.*3177C>A (n.*3177C>A)
c.2106+182955C>A (n.2106+182955C>A)
n.240C>A
3g.184327662C=CA1425958668EIF2B5,EIF4G1c.3738C= (p.Ser1246=)
c.3672C= (p.Ser1224=)
c.3085C= (n.3085C=)
c.3141C= (p.Ser1047=)
c.3741C= (p.Ser1247=)
c.3246C= (p.Ser1082=)
c.3759C= (p.Ser1253=)
c.3477C= (p.Ser1159=)
c.3621C= (p.Ser1207=)
c.3618C= (p.Ser1206=)
c.3480C= (p.Ser1160=)
c.3153C= (p.Ser1051=)
c.3150C= (p.Ser1050=)
c.3249C= (p.Ser1083=)
c.*3177C= (n.*3177C=)
c.2106+182955C= (n.2106+182955C=)
n.240C=
3g.184327662C>GCA437330624EIF2B5,EIF4G1c.3738C>G (p.Ser1246=)
c.3672C>G (p.Ser1224=)
c.3085C>G (n.3085C>G)
c.3141C>G (p.Ser1047=)
c.3741C>G (p.Ser1247=)
c.3246C>G (p.Ser1082=)
c.3759C>G (p.Ser1253=)
c.3477C>G (p.Ser1159=)
c.3621C>G (p.Ser1207=)
c.3618C>G (p.Ser1206=)
c.3480C>G (p.Ser1160=)
c.3153C>G (p.Ser1051=)
c.3150C>G (p.Ser1050=)
c.3249C>G (p.Ser1083=)
c.*3177C>G (n.*3177C>G)
c.2106+182955C>G (n.2106+182955C>G)
n.240C>G
3g.184327662C>TCA437330625EIF2B5,EIF4G1c.3738C>T (p.Ser1246=)
c.3672C>T (p.Ser1224=)
c.3085C>T (n.3085C>T)
c.3141C>T (p.Ser1047=)
c.3741C>T (p.Ser1247=)
c.3246C>T (p.Ser1082=)
c.3759C>T (p.Ser1253=)
c.3477C>T (p.Ser1159=)
c.3621C>T (p.Ser1207=)
c.3618C>T (p.Ser1206=)
c.3480C>T (p.Ser1160=)
c.3153C>T (p.Ser1051=)
c.3150C>T (p.Ser1050=)
c.3249C>T (p.Ser1083=)
c.*3177C>T (n.*3177C>T)
c.2106+182955C>T (n.2106+182955C>T)
n.240C>T
 dbSNP gnomAD v4

Number of alleles fetched