Chr Mutation (hg38) CAid Gene Transcript Linkouts
3g.184326881C>ACA355412958EIF2B5,EIF4G1c.3326C>A (p.Ala1109Glu)
c.3260C>A (p.Ala1087Glu)
c.2673C>A (n.2673C>A)
c.2732C>A (p.Ala911Glu)
c.3329C>A (p.Ala1110Glu)
c.2834C>A (p.Ala945Glu)
c.3347C>A (p.Ala1116Glu)
c.3065C>A (p.Ala1022Glu)
c.3209C>A (p.Ala1070Glu)
c.3206C>A (p.Ala1069Glu)
c.3068C>A (p.Ala1023Glu)
c.2741C>A (p.Ala914Glu)
c.2738C>A (p.Ala913Glu)
c.2837C>A (p.Ala946Glu)
c.*2765C>A (n.*2765C>A)
c.2106+182174C>A (n.2106+182174C>A)
c.487C>A
n.546C>A
3g.184326881C>GCA355412959EIF2B5,EIF4G1c.3326C>G (p.Ala1109Gly)
c.3260C>G (p.Ala1087Gly)
c.2673C>G (n.2673C>G)
c.2732C>G (p.Ala911Gly)
c.3329C>G (p.Ala1110Gly)
c.2834C>G (p.Ala945Gly)
c.3347C>G (p.Ala1116Gly)
c.3065C>G (p.Ala1022Gly)
c.3209C>G (p.Ala1070Gly)
c.3206C>G (p.Ala1069Gly)
c.3068C>G (p.Ala1023Gly)
c.2741C>G (p.Ala914Gly)
c.2738C>G (p.Ala913Gly)
c.2837C>G (p.Ala946Gly)
c.*2765C>G (n.*2765C>G)
c.2106+182174C>G (n.2106+182174C>G)
c.487C>G
n.546C>G
3g.184326881C>TCA355412962EIF2B5,EIF4G1c.3326C>T (p.Ala1109Val)
c.3260C>T (p.Ala1087Val)
c.2673C>T (n.2673C>T)
c.2732C>T (p.Ala911Val)
c.3329C>T (p.Ala1110Val)
c.2834C>T (p.Ala945Val)
c.3347C>T (p.Ala1116Val)
c.3065C>T (p.Ala1022Val)
c.3209C>T (p.Ala1070Val)
c.3206C>T (p.Ala1069Val)
c.3068C>T (p.Ala1023Val)
c.2741C>T (p.Ala914Val)
c.2738C>T (p.Ala913Val)
c.2837C>T (p.Ala946Val)
c.*2765C>T (n.*2765C>T)
c.2106+182174C>T (n.2106+182174C>T)
c.487C>T
n.546C>T
3g.184326882A=CA1425957729EIF2B5,EIF4G1c.3327A= (p.Ala1109=)
c.3261A= (p.Ala1087=)
c.2674A= (n.2674A=)
c.2733A= (p.Ala911=)
c.3330A= (p.Ala1110=)
c.2835A= (p.Ala945=)
c.3348A= (p.Ala1116=)
c.3066A= (p.Ala1022=)
c.3210A= (p.Ala1070=)
c.3207A= (p.Ala1069=)
c.3069A= (p.Ala1023=)
c.2742A= (p.Ala914=)
c.2739A= (p.Ala913=)
c.2838A= (p.Ala946=)
c.*2766A= (n.*2766A=)
c.2106+182175A= (n.2106+182175A=)
c.488A=
n.547A=
3g.184326882A>CCA437162070EIF2B5,EIF4G1c.3327A>C (p.Ala1109=)
c.3261A>C (p.Ala1087=)
c.2674A>C (n.2674A>C)
c.2733A>C (p.Ala911=)
c.3330A>C (p.Ala1110=)
c.2835A>C (p.Ala945=)
c.3348A>C (p.Ala1116=)
c.3066A>C (p.Ala1022=)
c.3210A>C (p.Ala1070=)
c.3207A>C (p.Ala1069=)
c.3069A>C (p.Ala1023=)
c.2742A>C (p.Ala914=)
c.2739A>C (p.Ala913=)
c.2838A>C (p.Ala946=)
c.*2766A>C (n.*2766A>C)
c.2106+182175A>C (n.2106+182175A>C)
c.488A>C
n.547A>C
3g.184326882A>GCA2732766EIF2B5,EIF4G1c.3327A>G (p.Ala1109=)
c.3261A>G (p.Ala1087=)
c.2674A>G (n.2674A>G)
c.2733A>G (p.Ala911=)
c.3330A>G (p.Ala1110=)
c.2835A>G (p.Ala945=)
c.3348A>G (p.Ala1116=)
c.3066A>G (p.Ala1022=)
c.3210A>G (p.Ala1070=)
c.3207A>G (p.Ala1069=)
c.3069A>G (p.Ala1023=)
c.2742A>G (p.Ala914=)
c.2739A>G (p.Ala913=)
c.2838A>G (p.Ala946=)
c.*2766A>G (n.*2766A>G)
c.2106+182175A>G (n.2106+182175A>G)
c.488A>G
n.547A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.184326882A>TCA437162071EIF2B5,EIF4G1c.3327A>T (p.Ala1109=)
c.3261A>T (p.Ala1087=)
c.2674A>T (n.2674A>T)
c.2733A>T (p.Ala911=)
c.3330A>T (p.Ala1110=)
c.2835A>T (p.Ala945=)
c.3348A>T (p.Ala1116=)
c.3066A>T (p.Ala1022=)
c.3210A>T (p.Ala1070=)
c.3207A>T (p.Ala1069=)
c.3069A>T (p.Ala1023=)
c.2742A>T (p.Ala914=)
c.2739A>T (p.Ala913=)
c.2838A>T (p.Ala946=)
c.*2766A>T (n.*2766A>T)
c.2106+182175A>T (n.2106+182175A>T)
c.488A>T
n.547A>T
3g.184326883T>ACA355412970EIF2B5,EIF4G1c.3328T>A (p.Ser1110Thr)
c.3262T>A (p.Ser1088Thr)
c.2675T>A (n.2675T>A)
c.2734T>A (p.Ser912Thr)
c.3331T>A (p.Ser1111Thr)
c.2836T>A (p.Ser946Thr)
c.3349T>A (p.Ser1117Thr)
c.3067T>A (p.Ser1023Thr)
c.3211T>A (p.Ser1071Thr)
c.3208T>A (p.Ser1070Thr)
c.3070T>A (p.Ser1024Thr)
c.2743T>A (p.Ser915Thr)
c.2740T>A (p.Ser914Thr)
c.2839T>A (p.Ser947Thr)
c.*2767T>A (n.*2767T>A)
c.2106+182176T>A (n.2106+182176T>A)
c.489T>A
n.548T>A
3g.184326883T>CCA355412972EIF2B5,EIF4G1c.3328T>C (p.Ser1110Pro)
c.3262T>C (p.Ser1088Pro)
c.2675T>C (n.2675T>C)
c.2734T>C (p.Ser912Pro)
c.3331T>C (p.Ser1111Pro)
c.2836T>C (p.Ser946Pro)
c.3349T>C (p.Ser1117Pro)
c.3067T>C (p.Ser1023Pro)
c.3211T>C (p.Ser1071Pro)
c.3208T>C (p.Ser1070Pro)
c.3070T>C (p.Ser1024Pro)
c.2743T>C (p.Ser915Pro)
c.2740T>C (p.Ser914Pro)
c.2839T>C (p.Ser947Pro)
c.*2767T>C (n.*2767T>C)
c.2106+182176T>C (n.2106+182176T>C)
c.489T>C
n.548T>C
3g.184326883T>GCA355412975EIF2B5,EIF4G1c.3328T>G (p.Ser1110Ala)
c.3262T>G (p.Ser1088Ala)
c.2675T>G (n.2675T>G)
c.2734T>G (p.Ser912Ala)
c.3331T>G (p.Ser1111Ala)
c.2836T>G (p.Ser946Ala)
c.3349T>G (p.Ser1117Ala)
c.3067T>G (p.Ser1023Ala)
c.3211T>G (p.Ser1071Ala)
c.3208T>G (p.Ser1070Ala)
c.3070T>G (p.Ser1024Ala)
c.2743T>G (p.Ser915Ala)
c.2740T>G (p.Ser914Ala)
c.2839T>G (p.Ser947Ala)
c.*2767T>G (n.*2767T>G)
c.2106+182176T>G (n.2106+182176T>G)
c.489T>G
n.548T>G
3g.184326884C>ACA355412979EIF2B5,EIF4G1c.3329C>A (p.Ser1110Ter)
c.3263C>A (p.Ser1088Ter)
c.2676C>A (n.2676C>A)
c.2735C>A (p.Ser912Ter)
c.3332C>A (p.Ser1111Ter)
c.2837C>A (p.Ser946Ter)
c.3350C>A (p.Ser1117Ter)
c.3068C>A (p.Ser1023Ter)
c.3212C>A (p.Ser1071Ter)
c.3209C>A (p.Ser1070Ter)
c.3071C>A (p.Ser1024Ter)
c.2744C>A (p.Ser915Ter)
c.2741C>A (p.Ser914Ter)
c.2840C>A (p.Ser947Ter)
c.*2768C>A (n.*2768C>A)
c.2106+182177C>A (n.2106+182177C>A)
c.490C>A
n.549C>A
3g.184326884C>GCA355412982EIF2B5,EIF4G1c.3329C>G (p.Ser1110Ter)
c.3263C>G (p.Ser1088Ter)
c.2676C>G (n.2676C>G)
c.2735C>G (p.Ser912Ter)
c.3332C>G (p.Ser1111Ter)
c.2837C>G (p.Ser946Ter)
c.3350C>G (p.Ser1117Ter)
c.3068C>G (p.Ser1023Ter)
c.3212C>G (p.Ser1071Ter)
c.3209C>G (p.Ser1070Ter)
c.3071C>G (p.Ser1024Ter)
c.2744C>G (p.Ser915Ter)
c.2741C>G (p.Ser914Ter)
c.2840C>G (p.Ser947Ter)
c.*2768C>G (n.*2768C>G)
c.2106+182177C>G (n.2106+182177C>G)
c.490C>G
n.549C>G
3g.184326884C>TCA355412983EIF2B5,EIF4G1c.3329C>T (p.Ser1110Leu)
c.3263C>T (p.Ser1088Leu)
c.2676C>T (n.2676C>T)
c.2735C>T (p.Ser912Leu)
c.3332C>T (p.Ser1111Leu)
c.2837C>T (p.Ser946Leu)
c.3350C>T (p.Ser1117Leu)
c.3068C>T (p.Ser1023Leu)
c.3212C>T (p.Ser1071Leu)
c.3209C>T (p.Ser1070Leu)
c.3071C>T (p.Ser1024Leu)
c.2744C>T (p.Ser915Leu)
c.2741C>T (p.Ser914Leu)
c.2840C>T (p.Ser947Leu)
c.*2768C>T (n.*2768C>T)
c.2106+182177C>T (n.2106+182177C>T)
c.490C>T
n.549C>T
 gnomAD v4
3g.184326885A>CCA437162072EIF2B5,EIF4G1c.3330A>C (p.Ser1110=)
c.3264A>C (p.Ser1088=)
c.2677A>C (n.2677A>C)
c.2736A>C (p.Ser912=)
c.3333A>C (p.Ser1111=)
c.2838A>C (p.Ser946=)
c.3351A>C (p.Ser1117=)
c.3069A>C (p.Ser1023=)
c.3213A>C (p.Ser1071=)
c.3210A>C (p.Ser1070=)
c.3072A>C (p.Ser1024=)
c.2745A>C (p.Ser915=)
c.2742A>C (p.Ser914=)
c.2841A>C (p.Ser947=)
c.*2769A>C (n.*2769A>C)
c.2106+182178A>C (n.2106+182178A>C)
c.491A>C
n.550A>C
3g.184326885A>GCA437162073EIF2B5,EIF4G1c.3330A>G (p.Ser1110=)
c.3264A>G (p.Ser1088=)
c.2677A>G (n.2677A>G)
c.2736A>G (p.Ser912=)
c.3333A>G (p.Ser1111=)
c.2838A>G (p.Ser946=)
c.3351A>G (p.Ser1117=)
c.3069A>G (p.Ser1023=)
c.3213A>G (p.Ser1071=)
c.3210A>G (p.Ser1070=)
c.3072A>G (p.Ser1024=)
c.2745A>G (p.Ser915=)
c.2742A>G (p.Ser914=)
c.2841A>G (p.Ser947=)
c.*2769A>G (n.*2769A>G)
c.2106+182178A>G (n.2106+182178A>G)
c.491A>G
n.550A>G
 gnomAD v4
3g.184326885A>TCA437162074EIF2B5,EIF4G1c.3330A>T (p.Ser1110=)
c.3264A>T (p.Ser1088=)
c.2677A>T (n.2677A>T)
c.2736A>T (p.Ser912=)
c.3333A>T (p.Ser1111=)
c.2838A>T (p.Ser946=)
c.3351A>T (p.Ser1117=)
c.3069A>T (p.Ser1023=)
c.3213A>T (p.Ser1071=)
c.3210A>T (p.Ser1070=)
c.3072A>T (p.Ser1024=)
c.2745A>T (p.Ser915=)
c.2742A>T (p.Ser914=)
c.2841A>T (p.Ser947=)
c.*2769A>T (n.*2769A>T)
c.2106+182178A>T (n.2106+182178A>T)
c.491A>T
n.550A>T
3g.184326886G>ACA355412984EIF2B5,EIF4G1c.3331G>A (p.Glu1111Lys)
c.3265G>A (p.Glu1089Lys)
c.2678G>A (n.2678G>A)
c.2737G>A (p.Glu913Lys)
c.3334G>A (p.Glu1112Lys)
c.2839G>A (p.Glu947Lys)
c.3352G>A (p.Glu1118Lys)
c.3070G>A (p.Glu1024Lys)
c.3214G>A (p.Glu1072Lys)
c.3211G>A (p.Glu1071Lys)
c.3073G>A (p.Glu1025Lys)
c.2746G>A (p.Glu916Lys)
c.2743G>A (p.Glu915Lys)
c.2842G>A (p.Glu948Lys)
c.*2770G>A (n.*2770G>A)
c.2106+182179G>A (n.2106+182179G>A)
c.492G>A
n.551G>A
3g.184326886G>CCA2732767EIF2B5,EIF4G1c.3331G>C (p.Glu1111Gln)
c.3265G>C (p.Glu1089Gln)
c.2678G>C (n.2678G>C)
c.2737G>C (p.Glu913Gln)
c.3334G>C (p.Glu1112Gln)
c.2839G>C (p.Glu947Gln)
c.3352G>C (p.Glu1118Gln)
c.3070G>C (p.Glu1024Gln)
c.3214G>C (p.Glu1072Gln)
c.3211G>C (p.Glu1071Gln)
c.3073G>C (p.Glu1025Gln)
c.2746G>C (p.Glu916Gln)
c.2743G>C (p.Glu915Gln)
c.2842G>C (p.Glu948Gln)
c.*2770G>C (n.*2770G>C)
c.2106+182179G>C (n.2106+182179G>C)
c.492G>C
n.551G>C
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.184326886G=CA1425957733EIF2B5,EIF4G1c.3331G= (p.Glu1111=)
c.3265G= (p.Glu1089=)
c.2678G= (n.2678G=)
c.2737G= (p.Glu913=)
c.3334G= (p.Glu1112=)
c.2839G= (p.Glu947=)
c.3352G= (p.Glu1118=)
c.3070G= (p.Glu1024=)
c.3214G= (p.Glu1072=)
c.3211G= (p.Glu1071=)
c.3073G= (p.Glu1025=)
c.2746G= (p.Glu916=)
c.2743G= (p.Glu915=)
c.2842G= (p.Glu948=)
c.*2770G= (n.*2770G=)
c.2106+182179G= (n.2106+182179G=)
c.492G=
n.551G=
3g.184326886G>TCA355412985EIF2B5,EIF4G1c.3331G>T (p.Glu1111Ter)
c.3265G>T (p.Glu1089Ter)
c.2678G>T (n.2678G>T)
c.2737G>T (p.Glu913Ter)
c.3334G>T (p.Glu1112Ter)
c.2839G>T (p.Glu947Ter)
c.3352G>T (p.Glu1118Ter)
c.3070G>T (p.Glu1024Ter)
c.3214G>T (p.Glu1072Ter)
c.3211G>T (p.Glu1071Ter)
c.3073G>T (p.Glu1025Ter)
c.2746G>T (p.Glu916Ter)
c.2743G>T (p.Glu915Ter)
c.2842G>T (p.Glu948Ter)
c.*2770G>T (n.*2770G>T)
c.2106+182179G>T (n.2106+182179G>T)
c.492G>T
n.551G>T
3g.184326887A>CCA355412987EIF2B5,EIF4G1c.3332A>C (p.Glu1111Ala)
c.3266A>C (p.Glu1089Ala)
c.2679A>C (n.2679A>C)
c.2738A>C (p.Glu913Ala)
c.3335A>C (p.Glu1112Ala)
c.2840A>C (p.Glu947Ala)
c.3353A>C (p.Glu1118Ala)
c.3071A>C (p.Glu1024Ala)
c.3215A>C (p.Glu1072Ala)
c.3212A>C (p.Glu1071Ala)
c.3074A>C (p.Glu1025Ala)
c.2747A>C (p.Glu916Ala)
c.2744A>C (p.Glu915Ala)
c.2843A>C (p.Glu948Ala)
c.*2771A>C (n.*2771A>C)
c.2106+182180A>C (n.2106+182180A>C)
c.493A>C
n.552A>C
3g.184326887A>GCA355412989EIF2B5,EIF4G1c.3332A>G (p.Glu1111Gly)
c.3266A>G (p.Glu1089Gly)
c.2679A>G (n.2679A>G)
c.2738A>G (p.Glu913Gly)
c.3335A>G (p.Glu1112Gly)
c.2840A>G (p.Glu947Gly)
c.3353A>G (p.Glu1118Gly)
c.3071A>G (p.Glu1024Gly)
c.3215A>G (p.Glu1072Gly)
c.3212A>G (p.Glu1071Gly)
c.3074A>G (p.Glu1025Gly)
c.2747A>G (p.Glu916Gly)
c.2744A>G (p.Glu915Gly)
c.2843A>G (p.Glu948Gly)
c.*2771A>G (n.*2771A>G)
c.2106+182180A>G (n.2106+182180A>G)
c.493A>G
n.552A>G
3g.184326887A>TCA355412992EIF2B5,EIF4G1c.3332A>T (p.Glu1111Val)
c.3266A>T (p.Glu1089Val)
c.2679A>T (n.2679A>T)
c.2738A>T (p.Glu913Val)
c.3335A>T (p.Glu1112Val)
c.2840A>T (p.Glu947Val)
c.3353A>T (p.Glu1118Val)
c.3071A>T (p.Glu1024Val)
c.3215A>T (p.Glu1072Val)
c.3212A>T (p.Glu1071Val)
c.3074A>T (p.Glu1025Val)
c.2747A>T (p.Glu916Val)
c.2744A>T (p.Glu915Val)
c.2843A>T (p.Glu948Val)
c.*2771A>T (n.*2771A>T)
c.2106+182180A>T (n.2106+182180A>T)
c.493A>T
n.552A>T
 gnomAD v4
3g.184326888A>CCA355412995EIF2B5,EIF4G1c.3333A>C (p.Glu1111Asp)
c.3267A>C (p.Glu1089Asp)
c.2680A>C (n.2680A>C)
c.2739A>C (p.Glu913Asp)
c.3336A>C (p.Glu1112Asp)
c.2841A>C (p.Glu947Asp)
c.3354A>C (p.Glu1118Asp)
c.3072A>C (p.Glu1024Asp)
c.3216A>C (p.Glu1072Asp)
c.3213A>C (p.Glu1071Asp)
c.3075A>C (p.Glu1025Asp)
c.2748A>C (p.Glu916Asp)
c.2745A>C (p.Glu915Asp)
c.2844A>C (p.Glu948Asp)
c.*2772A>C (n.*2772A>C)
c.2106+182181A>C (n.2106+182181A>C)
c.494A>C
n.553A>C
3g.184326888A>GCA437162075EIF2B5,EIF4G1c.3333A>G (p.Glu1111=)
c.3267A>G (p.Glu1089=)
c.2680A>G (n.2680A>G)
c.2739A>G (p.Glu913=)
c.3336A>G (p.Glu1112=)
c.2841A>G (p.Glu947=)
c.3354A>G (p.Glu1118=)
c.3072A>G (p.Glu1024=)
c.3216A>G (p.Glu1072=)
c.3213A>G (p.Glu1071=)
c.3075A>G (p.Glu1025=)
c.2748A>G (p.Glu916=)
c.2745A>G (p.Glu915=)
c.2844A>G (p.Glu948=)
c.*2772A>G (n.*2772A>G)
c.2106+182181A>G (n.2106+182181A>G)
c.494A>G
n.553A>G
3g.184326888A>TCA355412998EIF2B5,EIF4G1c.3333A>T (p.Glu1111Asp)
c.3267A>T (p.Glu1089Asp)
c.2680A>T (n.2680A>T)
c.2739A>T (p.Glu913Asp)
c.3336A>T (p.Glu1112Asp)
c.2841A>T (p.Glu947Asp)
c.3354A>T (p.Glu1118Asp)
c.3072A>T (p.Glu1024Asp)
c.3216A>T (p.Glu1072Asp)
c.3213A>T (p.Glu1071Asp)
c.3075A>T (p.Glu1025Asp)
c.2748A>T (p.Glu916Asp)
c.2745A>T (p.Glu915Asp)
c.2844A>T (p.Glu948Asp)
c.*2772A>T (n.*2772A>T)
c.2106+182181A>T (n.2106+182181A>T)
c.494A>T
n.553A>T
3g.184326889G>ACA355413002EIF2B5,EIF4G1c.3334G>A (p.Ala1112Thr)
c.3268G>A (p.Ala1090Thr)
c.2681G>A (n.2681G>A)
c.2740G>A (p.Ala914Thr)
c.3337G>A (p.Ala1113Thr)
c.2842G>A (p.Ala948Thr)
c.3355G>A (p.Ala1119Thr)
c.3073G>A (p.Ala1025Thr)
c.3217G>A (p.Ala1073Thr)
c.3214G>A (p.Ala1072Thr)
c.3076G>A (p.Ala1026Thr)
c.2749G>A (p.Ala917Thr)
c.2746G>A (p.Ala916Thr)
c.2845G>A (p.Ala949Thr)
c.*2773G>A (n.*2773G>A)
c.2106+182182G>A (n.2106+182182G>A)
c.495G>A
n.554G>A
 gnomAD v4
3g.184326889G>CCA355413004EIF2B5,EIF4G1c.3334G>C (p.Ala1112Pro)
c.3268G>C (p.Ala1090Pro)
c.2681G>C (n.2681G>C)
c.2740G>C (p.Ala914Pro)
c.3337G>C (p.Ala1113Pro)
c.2842G>C (p.Ala948Pro)
c.3355G>C (p.Ala1119Pro)
c.3073G>C (p.Ala1025Pro)
c.3217G>C (p.Ala1073Pro)
c.3214G>C (p.Ala1072Pro)
c.3076G>C (p.Ala1026Pro)
c.2749G>C (p.Ala917Pro)
c.2746G>C (p.Ala916Pro)
c.2845G>C (p.Ala949Pro)
c.*2773G>C (n.*2773G>C)
c.2106+182182G>C (n.2106+182182G>C)
c.495G>C
n.554G>C
3g.184326889G>TCA355413006EIF2B5,EIF4G1c.3334G>T (p.Ala1112Ser)
c.3268G>T (p.Ala1090Ser)
c.2681G>T (n.2681G>T)
c.2740G>T (p.Ala914Ser)
c.3337G>T (p.Ala1113Ser)
c.2842G>T (p.Ala948Ser)
c.3355G>T (p.Ala1119Ser)
c.3073G>T (p.Ala1025Ser)
c.3217G>T (p.Ala1073Ser)
c.3214G>T (p.Ala1072Ser)
c.3076G>T (p.Ala1026Ser)
c.2749G>T (p.Ala917Ser)
c.2746G>T (p.Ala916Ser)
c.2845G>T (p.Ala949Ser)
c.*2773G>T (n.*2773G>T)
c.2106+182182G>T (n.2106+182182G>T)
c.495G>T
n.554G>T
3g.184326890C>ACA355413009EIF2B5,EIF4G1c.3335C>A (p.Ala1112Asp)
c.3269C>A (p.Ala1090Asp)
c.2682C>A (n.2682C>A)
c.2741C>A (p.Ala914Asp)
c.3338C>A (p.Ala1113Asp)
c.2843C>A (p.Ala948Asp)
c.3356C>A (p.Ala1119Asp)
c.3074C>A (p.Ala1025Asp)
c.3218C>A (p.Ala1073Asp)
c.3215C>A (p.Ala1072Asp)
c.3077C>A (p.Ala1026Asp)
c.2750C>A (p.Ala917Asp)
c.2747C>A (p.Ala916Asp)
c.2846C>A (p.Ala949Asp)
c.*2774C>A (n.*2774C>A)
c.2106+182183C>A (n.2106+182183C>A)
c.496C>A
n.555C>A
3g.184326890C=CA1425957735EIF2B5,EIF4G1c.3335C= (p.Ala1112=)
c.3269C= (p.Ala1090=)
c.2682C= (n.2682C=)
c.2741C= (p.Ala914=)
c.3338C= (p.Ala1113=)
c.2843C= (p.Ala948=)
c.3356C= (p.Ala1119=)
c.3074C= (p.Ala1025=)
c.3218C= (p.Ala1073=)
c.3215C= (p.Ala1072=)
c.3077C= (p.Ala1026=)
c.2750C= (p.Ala917=)
c.2747C= (p.Ala916=)
c.2846C= (p.Ala949=)
c.*2774C= (n.*2774C=)
c.2106+182183C= (n.2106+182183C=)
c.496C=
n.555C=
3g.184326890C>GCA355413010EIF2B5,EIF4G1c.3335C>G (p.Ala1112Gly)
c.3269C>G (p.Ala1090Gly)
c.2682C>G (n.2682C>G)
c.2741C>G (p.Ala914Gly)
c.3338C>G (p.Ala1113Gly)
c.2843C>G (p.Ala948Gly)
c.3356C>G (p.Ala1119Gly)
c.3074C>G (p.Ala1025Gly)
c.3218C>G (p.Ala1073Gly)
c.3215C>G (p.Ala1072Gly)
c.3077C>G (p.Ala1026Gly)
c.2750C>G (p.Ala917Gly)
c.2747C>G (p.Ala916Gly)
c.2846C>G (p.Ala949Gly)
c.*2774C>G (n.*2774C>G)
c.2106+182183C>G (n.2106+182183C>G)
c.496C>G
n.555C>G
3g.184326890C>TCA2732768EIF2B5,EIF4G1c.3335C>T (p.Ala1112Val)
c.3269C>T (p.Ala1090Val)
c.2682C>T (n.2682C>T)
c.2741C>T (p.Ala914Val)
c.3338C>T (p.Ala1113Val)
c.2843C>T (p.Ala948Val)
c.3356C>T (p.Ala1119Val)
c.3074C>T (p.Ala1025Val)
c.3218C>T (p.Ala1073Val)
c.3215C>T (p.Ala1072Val)
c.3077C>T (p.Ala1026Val)
c.2750C>T (p.Ala917Val)
c.2747C>T (p.Ala916Val)
c.2846C>T (p.Ala949Val)
c.*2774C>T (n.*2774C>T)
c.2106+182183C>T (n.2106+182183C>T)
c.496C>T
n.555C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.184326891T>ACA437162076EIF2B5,EIF4G1c.3336T>A (p.Ala1112=)
c.3270T>A (p.Ala1090=)
c.2683T>A (n.2683T>A)
c.2742T>A (p.Ala914=)
c.3339T>A (p.Ala1113=)
c.2844T>A (p.Ala948=)
c.3357T>A (p.Ala1119=)
c.3075T>A (p.Ala1025=)
c.3219T>A (p.Ala1073=)
c.3216T>A (p.Ala1072=)
c.3078T>A (p.Ala1026=)
c.2751T>A (p.Ala917=)
c.2748T>A (p.Ala916=)
c.2847T>A (p.Ala949=)
c.*2775T>A (n.*2775T>A)
c.2106+182184T>A (n.2106+182184T>A)
c.497T>A
n.556T>A
3g.184326891T>CCA437162077EIF2B5,EIF4G1c.3336T>C (p.Ala1112=)
c.3270T>C (p.Ala1090=)
c.2683T>C (n.2683T>C)
c.2742T>C (p.Ala914=)
c.3339T>C (p.Ala1113=)
c.2844T>C (p.Ala948=)
c.3357T>C (p.Ala1119=)
c.3075T>C (p.Ala1025=)
c.3219T>C (p.Ala1073=)
c.3216T>C (p.Ala1072=)
c.3078T>C (p.Ala1026=)
c.2751T>C (p.Ala917=)
c.2748T>C (p.Ala916=)
c.2847T>C (p.Ala949=)
c.*2775T>C (n.*2775T>C)
c.2106+182184T>C (n.2106+182184T>C)
c.497T>C
n.556T>C
 gnomAD v4
3g.184326891T>GCA437162078EIF2B5,EIF4G1c.3336T>G (p.Ala1112=)
c.3270T>G (p.Ala1090=)
c.2683T>G (n.2683T>G)
c.2742T>G (p.Ala914=)
c.3339T>G (p.Ala1113=)
c.2844T>G (p.Ala948=)
c.3357T>G (p.Ala1119=)
c.3075T>G (p.Ala1025=)
c.3219T>G (p.Ala1073=)
c.3216T>G (p.Ala1072=)
c.3078T>G (p.Ala1026=)
c.2751T>G (p.Ala917=)
c.2748T>G (p.Ala916=)
c.2847T>G (p.Ala949=)
c.*2775T>G (n.*2775T>G)
c.2106+182184T>G (n.2106+182184T>G)
c.497T>G
n.556T>G
 dbSNP
3g.184326891T=CA1425957738EIF2B5,EIF4G1c.3336T= (p.Ala1112=)
c.3270T= (p.Ala1090=)
c.2683T= (n.2683T=)
c.2742T= (p.Ala914=)
c.3339T= (p.Ala1113=)
c.2844T= (p.Ala948=)
c.3357T= (p.Ala1119=)
c.3075T= (p.Ala1025=)
c.3219T= (p.Ala1073=)
c.3216T= (p.Ala1072=)
c.3078T= (p.Ala1026=)
c.2751T= (p.Ala917=)
c.2748T= (p.Ala916=)
c.2847T= (p.Ala949=)
c.*2775T= (n.*2775T=)
c.2106+182184T= (n.2106+182184T=)
c.497T=
n.556T=
3g.184326892G>ACA355413019EIF2B5,EIF4G1c.3337G>A (p.Ala1113Thr)
c.3271G>A (p.Ala1091Thr)
c.2684G>A (n.2684G>A)
c.2743G>A (p.Ala915Thr)
c.3340G>A (p.Ala1114Thr)
c.2845G>A (p.Ala949Thr)
c.3358G>A (p.Ala1120Thr)
c.3076G>A (p.Ala1026Thr)
c.3220G>A (p.Ala1074Thr)
c.3217G>A (p.Ala1073Thr)
c.3079G>A (p.Ala1027Thr)
c.2752G>A (p.Ala918Thr)
c.2749G>A (p.Ala917Thr)
c.2848G>A (p.Ala950Thr)
c.*2776G>A (n.*2776G>A)
c.2106+182185G>A (n.2106+182185G>A)
c.498G>A
n.557G>A
3g.184326892G>CCA2732769EIF2B5,EIF4G1c.3337G>C (p.Ala1113Pro)
c.3271G>C (p.Ala1091Pro)
c.2684G>C (n.2684G>C)
c.2743G>C (p.Ala915Pro)
c.3340G>C (p.Ala1114Pro)
c.2845G>C (p.Ala949Pro)
c.3358G>C (p.Ala1120Pro)
c.3076G>C (p.Ala1026Pro)
c.3220G>C (p.Ala1074Pro)
c.3217G>C (p.Ala1073Pro)
c.3079G>C (p.Ala1027Pro)
c.2752G>C (p.Ala918Pro)
c.2749G>C (p.Ala917Pro)
c.2848G>C (p.Ala950Pro)
c.*2776G>C (n.*2776G>C)
c.2106+182185G>C (n.2106+182185G>C)
c.498G>C
n.557G>C
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.184326892G=CA1425957741EIF2B5,EIF4G1c.3337G= (p.Ala1113=)
c.3271G= (p.Ala1091=)
c.2684G= (n.2684G=)
c.2743G= (p.Ala915=)
c.3340G= (p.Ala1114=)
c.2845G= (p.Ala949=)
c.3358G= (p.Ala1120=)
c.3076G= (p.Ala1026=)
c.3220G= (p.Ala1074=)
c.3217G= (p.Ala1073=)
c.3079G= (p.Ala1027=)
c.2752G= (p.Ala918=)
c.2749G= (p.Ala917=)
c.2848G= (p.Ala950=)
c.*2776G= (n.*2776G=)
c.2106+182185G= (n.2106+182185G=)
c.498G=
n.557G=
3g.184326892G>TCA355413016EIF2B5,EIF4G1c.3337G>T (p.Ala1113Ser)
c.3271G>T (p.Ala1091Ser)
c.2684G>T (n.2684G>T)
c.2743G>T (p.Ala915Ser)
c.3340G>T (p.Ala1114Ser)
c.2845G>T (p.Ala949Ser)
c.3358G>T (p.Ala1120Ser)
c.3076G>T (p.Ala1026Ser)
c.3220G>T (p.Ala1074Ser)
c.3217G>T (p.Ala1073Ser)
c.3079G>T (p.Ala1027Ser)
c.2752G>T (p.Ala918Ser)
c.2749G>T (p.Ala917Ser)
c.2848G>T (p.Ala950Ser)
c.*2776G>T (n.*2776G>T)
c.2106+182185G>T (n.2106+182185G>T)
c.498G>T
n.557G>T
3g.184326893C>ACA355413036EIF2B5,EIF4G1c.3338C>A (p.Ala1113Asp)
c.3272C>A (p.Ala1091Asp)
c.2685C>A (n.2685C>A)
c.2744C>A (p.Ala915Asp)
c.3341C>A (p.Ala1114Asp)
c.2846C>A (p.Ala949Asp)
c.3359C>A (p.Ala1120Asp)
c.3077C>A (p.Ala1026Asp)
c.3221C>A (p.Ala1074Asp)
c.3218C>A (p.Ala1073Asp)
c.3080C>A (p.Ala1027Asp)
c.2753C>A (p.Ala918Asp)
c.2750C>A (p.Ala917Asp)
c.2849C>A (p.Ala950Asp)
c.*2777C>A (n.*2777C>A)
c.2106+182186C>A (n.2106+182186C>A)
c.499C>A
n.558C>A
3g.184326893C=CA1425957743EIF2B5,EIF4G1c.3338C= (p.Ala1113=)
c.3272C= (p.Ala1091=)
c.2685C= (n.2685C=)
c.2744C= (p.Ala915=)
c.3341C= (p.Ala1114=)
c.2846C= (p.Ala949=)
c.3359C= (p.Ala1120=)
c.3077C= (p.Ala1026=)
c.3221C= (p.Ala1074=)
c.3218C= (p.Ala1073=)
c.3080C= (p.Ala1027=)
c.2753C= (p.Ala918=)
c.2750C= (p.Ala917=)
c.2849C= (p.Ala950=)
c.*2777C= (n.*2777C=)
c.2106+182186C= (n.2106+182186C=)
c.499C=
n.558C=
3g.184326893C>GCA355413029EIF2B5,EIF4G1c.3338C>G (p.Ala1113Gly)
c.3272C>G (p.Ala1091Gly)
c.2685C>G (n.2685C>G)
c.2744C>G (p.Ala915Gly)
c.3341C>G (p.Ala1114Gly)
c.2846C>G (p.Ala949Gly)
c.3359C>G (p.Ala1120Gly)
c.3077C>G (p.Ala1026Gly)
c.3221C>G (p.Ala1074Gly)
c.3218C>G (p.Ala1073Gly)
c.3080C>G (p.Ala1027Gly)
c.2753C>G (p.Ala918Gly)
c.2750C>G (p.Ala917Gly)
c.2849C>G (p.Ala950Gly)
c.*2777C>G (n.*2777C>G)
c.2106+182186C>G (n.2106+182186C>G)
c.499C>G
n.558C>G
3g.184326893C>TCA355413033EIF2B5,EIF4G1c.3338C>T (p.Ala1113Val)
c.3272C>T (p.Ala1091Val)
c.2685C>T (n.2685C>T)
c.2744C>T (p.Ala915Val)
c.3341C>T (p.Ala1114Val)
c.2846C>T (p.Ala949Val)
c.3359C>T (p.Ala1120Val)
c.3077C>T (p.Ala1026Val)
c.3221C>T (p.Ala1074Val)
c.3218C>T (p.Ala1073Val)
c.3080C>T (p.Ala1027Val)
c.2753C>T (p.Ala918Val)
c.2750C>T (p.Ala917Val)
c.2849C>T (p.Ala950Val)
c.*2777C>T (n.*2777C>T)
c.2106+182186C>T (n.2106+182186C>T)
c.499C>T
n.558C>T
 dbSNP gnomAD v2 gnomAD v4
3g.184326894T>ACA437162079EIF2B5,EIF4G1c.3339T>A (p.Ala1113=)
c.3273T>A (p.Ala1091=)
c.2686T>A (n.2686T>A)
c.2745T>A (p.Ala915=)
c.3342T>A (p.Ala1114=)
c.2847T>A (p.Ala949=)
c.3360T>A (p.Ala1120=)
c.3078T>A (p.Ala1026=)
c.3222T>A (p.Ala1074=)
c.3219T>A (p.Ala1073=)
c.3081T>A (p.Ala1027=)
c.2754T>A (p.Ala918=)
c.2751T>A (p.Ala917=)
c.2850T>A (p.Ala950=)
c.*2778T>A (n.*2778T>A)
c.2106+182187T>A (n.2106+182187T>A)
c.500T>A
n.559T>A
3g.184326894T>CCA437162080EIF2B5,EIF4G1c.3339T>C (p.Ala1113=)
c.3273T>C (p.Ala1091=)
c.2686T>C (n.2686T>C)
c.2745T>C (p.Ala915=)
c.3342T>C (p.Ala1114=)
c.2847T>C (p.Ala949=)
c.3360T>C (p.Ala1120=)
c.3078T>C (p.Ala1026=)
c.3222T>C (p.Ala1074=)
c.3219T>C (p.Ala1073=)
c.3081T>C (p.Ala1027=)
c.2754T>C (p.Ala918=)
c.2751T>C (p.Ala917=)
c.2850T>C (p.Ala950=)
c.*2778T>C (n.*2778T>C)
c.2106+182187T>C (n.2106+182187T>C)
c.500T>C
n.559T>C
 dbSNP
3g.184326894T>GCA437162081EIF2B5,EIF4G1c.3339T>G (p.Ala1113=)
c.3273T>G (p.Ala1091=)
c.2686T>G (n.2686T>G)
c.2745T>G (p.Ala915=)
c.3342T>G (p.Ala1114=)
c.2847T>G (p.Ala949=)
c.3360T>G (p.Ala1120=)
c.3078T>G (p.Ala1026=)
c.3222T>G (p.Ala1074=)
c.3219T>G (p.Ala1073=)
c.3081T>G (p.Ala1027=)
c.2754T>G (p.Ala918=)
c.2751T>G (p.Ala917=)
c.2850T>G (p.Ala950=)
c.*2778T>G (n.*2778T>G)
c.2106+182187T>G (n.2106+182187T>G)
c.500T>G
n.559T>G
3g.184326895C>ACA88867220EIF2B5,EIF4G1c.3340C>A (p.Arg1114Ser)
c.3274C>A (p.Arg1092Ser)
c.2687C>A (n.2687C>A)
c.2746C>A (p.Arg916Ser)
c.3343C>A (p.Arg1115Ser)
c.2848C>A (p.Arg950Ser)
c.3361C>A (p.Arg1121Ser)
c.3079C>A (p.Arg1027Ser)
c.3223C>A (p.Arg1075Ser)
c.3220C>A (p.Arg1074Ser)
c.3082C>A (p.Arg1028Ser)
c.2755C>A (p.Arg919Ser)
c.2752C>A (p.Arg918Ser)
c.2851C>A (p.Arg951Ser)
c.*2779C>A (n.*2779C>A)
c.2106+182188C>A (n.2106+182188C>A)
c.501C>A
n.560C>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.184326895C=CA1425957748EIF2B5,EIF4G1c.3340C= (p.Arg1114=)
c.3274C= (p.Arg1092=)
c.2687C= (n.2687C=)
c.2746C= (p.Arg916=)
c.3343C= (p.Arg1115=)
c.2848C= (p.Arg950=)
c.3361C= (p.Arg1121=)
c.3079C= (p.Arg1027=)
c.3223C= (p.Arg1075=)
c.3220C= (p.Arg1074=)
c.3082C= (p.Arg1028=)
c.2755C= (p.Arg919=)
c.2752C= (p.Arg918=)
c.2851C= (p.Arg951=)
c.*2779C= (n.*2779C=)
c.2106+182188C= (n.2106+182188C=)
c.501C=
n.560C=
3g.184326895C>GCA355413042EIF2B5,EIF4G1c.3340C>G (p.Arg1114Gly)
c.3274C>G (p.Arg1092Gly)
c.2687C>G (n.2687C>G)
c.2746C>G (p.Arg916Gly)
c.3343C>G (p.Arg1115Gly)
c.2848C>G (p.Arg950Gly)
c.3361C>G (p.Arg1121Gly)
c.3079C>G (p.Arg1027Gly)
c.3223C>G (p.Arg1075Gly)
c.3220C>G (p.Arg1074Gly)
c.3082C>G (p.Arg1028Gly)
c.2755C>G (p.Arg919Gly)
c.2752C>G (p.Arg918Gly)
c.2851C>G (p.Arg951Gly)
c.*2779C>G (n.*2779C>G)
c.2106+182188C>G (n.2106+182188C>G)
c.501C>G
n.560C>G
3g.184326895C>TCA2732770EIF2B5,EIF4G1c.3340C>T (p.Arg1114Cys)
c.3274C>T (p.Arg1092Cys)
c.2687C>T (n.2687C>T)
c.2746C>T (p.Arg916Cys)
c.3343C>T (p.Arg1115Cys)
c.2848C>T (p.Arg950Cys)
c.3361C>T (p.Arg1121Cys)
c.3079C>T (p.Arg1027Cys)
c.3223C>T (p.Arg1075Cys)
c.3220C>T (p.Arg1074Cys)
c.3082C>T (p.Arg1028Cys)
c.2755C>T (p.Arg919Cys)
c.2752C>T (p.Arg918Cys)
c.2851C>T (p.Arg951Cys)
c.*2779C>T (n.*2779C>T)
c.2106+182188C>T (n.2106+182188C>T)
c.501C>T
n.560C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.184326896G>ACA88867225EIF2B5,EIF4G1c.3341G>A (p.Arg1114His)
c.3275G>A (p.Arg1092His)
c.2688G>A (n.2688G>A)
c.2747G>A (p.Arg916His)
c.3344G>A (p.Arg1115His)
c.2849G>A (p.Arg950His)
c.3362G>A (p.Arg1121His)
c.3080G>A (p.Arg1027His)
c.3224G>A (p.Arg1075His)
c.3221G>A (p.Arg1074His)
c.3083G>A (p.Arg1028His)
c.2756G>A (p.Arg919His)
c.2753G>A (p.Arg918His)
c.2852G>A (p.Arg951His)
c.*2780G>A (n.*2780G>A)
c.2106+182189G>A (n.2106+182189G>A)
c.502G>A
n.561G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.184326896G>CCA355413051EIF2B5,EIF4G1c.3341G>C (p.Arg1114Pro)
c.3275G>C (p.Arg1092Pro)
c.2688G>C (n.2688G>C)
c.2747G>C (p.Arg916Pro)
c.3344G>C (p.Arg1115Pro)
c.2849G>C (p.Arg950Pro)
c.3362G>C (p.Arg1121Pro)
c.3080G>C (p.Arg1027Pro)
c.3224G>C (p.Arg1075Pro)
c.3221G>C (p.Arg1074Pro)
c.3083G>C (p.Arg1028Pro)
c.2756G>C (p.Arg919Pro)
c.2753G>C (p.Arg918Pro)
c.2852G>C (p.Arg951Pro)
c.*2780G>C (n.*2780G>C)
c.2106+182189G>C (n.2106+182189G>C)
c.502G>C
n.561G>C
3g.184326896G=CA1425957752EIF2B5,EIF4G1c.3341G= (p.Arg1114=)
c.3275G= (p.Arg1092=)
c.2688G= (n.2688G=)
c.2747G= (p.Arg916=)
c.3344G= (p.Arg1115=)
c.2849G= (p.Arg950=)
c.3362G= (p.Arg1121=)
c.3080G= (p.Arg1027=)
c.3224G= (p.Arg1075=)
c.3221G= (p.Arg1074=)
c.3083G= (p.Arg1028=)
c.2756G= (p.Arg919=)
c.2753G= (p.Arg918=)
c.2852G= (p.Arg951=)
c.*2780G= (n.*2780G=)
c.2106+182189G= (n.2106+182189G=)
c.502G=
n.561G=
3g.184326896G>TCA355413054EIF2B5,EIF4G1c.3341G>T (p.Arg1114Leu)
c.3275G>T (p.Arg1092Leu)
c.2688G>T (n.2688G>T)
c.2747G>T (p.Arg916Leu)
c.3344G>T (p.Arg1115Leu)
c.2849G>T (p.Arg950Leu)
c.3362G>T (p.Arg1121Leu)
c.3080G>T (p.Arg1027Leu)
c.3224G>T (p.Arg1075Leu)
c.3221G>T (p.Arg1074Leu)
c.3083G>T (p.Arg1028Leu)
c.2756G>T (p.Arg919Leu)
c.2753G>T (p.Arg918Leu)
c.2852G>T (p.Arg951Leu)
c.*2780G>T (n.*2780G>T)
c.2106+182189G>T (n.2106+182189G>T)
c.502G>T
n.561G>T
3g.184326897C>ACA437162084EIF2B5,EIF4G1c.3342C>A (p.Arg1114=)
c.3276C>A (p.Arg1092=)
c.2689C>A (n.2689C>A)
c.2748C>A (p.Arg916=)
c.3345C>A (p.Arg1115=)
c.2850C>A (p.Arg950=)
c.3363C>A (p.Arg1121=)
c.3081C>A (p.Arg1027=)
c.3225C>A (p.Arg1075=)
c.3222C>A (p.Arg1074=)
c.3084C>A (p.Arg1028=)
c.2757C>A (p.Arg919=)
c.2754C>A (p.Arg918=)
c.2853C>A (p.Arg951=)
c.*2781C>A (n.*2781C>A)
c.2106+182190C>A (n.2106+182190C>A)
c.503C>A
n.562C>A
3g.184326897C=CA1425957755EIF2B5,EIF4G1c.3342C= (p.Arg1114=)
c.3276C= (p.Arg1092=)
c.2689C= (n.2689C=)
c.2748C= (p.Arg916=)
c.3345C= (p.Arg1115=)
c.2850C= (p.Arg950=)
c.3363C= (p.Arg1121=)
c.3081C= (p.Arg1027=)
c.3225C= (p.Arg1075=)
c.3222C= (p.Arg1074=)
c.3084C= (p.Arg1028=)
c.2757C= (p.Arg919=)
c.2754C= (p.Arg918=)
c.2853C= (p.Arg951=)
c.*2781C= (n.*2781C=)
c.2106+182190C= (n.2106+182190C=)
c.503C=
n.562C=
3g.184326897C>GCA437162082EIF2B5,EIF4G1c.3342C>G (p.Arg1114=)
c.3276C>G (p.Arg1092=)
c.2689C>G (n.2689C>G)
c.2748C>G (p.Arg916=)
c.3345C>G (p.Arg1115=)
c.2850C>G (p.Arg950=)
c.3363C>G (p.Arg1121=)
c.3081C>G (p.Arg1027=)
c.3225C>G (p.Arg1075=)
c.3222C>G (p.Arg1074=)
c.3084C>G (p.Arg1028=)
c.2757C>G (p.Arg919=)
c.2754C>G (p.Arg918=)
c.2853C>G (p.Arg951=)
c.*2781C>G (n.*2781C>G)
c.2106+182190C>G (n.2106+182190C>G)
c.503C>G
n.562C>G
 dbSNP gnomAD v2 gnomAD v4
3g.184326897C>TCA437162083EIF2B5,EIF4G1c.3342C>T (p.Arg1114=)
c.3276C>T (p.Arg1092=)
c.2689C>T (n.2689C>T)
c.2748C>T (p.Arg916=)
c.3345C>T (p.Arg1115=)
c.2850C>T (p.Arg950=)
c.3363C>T (p.Arg1121=)
c.3081C>T (p.Arg1027=)
c.3225C>T (p.Arg1075=)
c.3222C>T (p.Arg1074=)
c.3084C>T (p.Arg1028=)
c.2757C>T (p.Arg919=)
c.2754C>T (p.Arg918=)
c.2853C>T (p.Arg951=)
c.*2781C>T (n.*2781C>T)
c.2106+182190C>T (n.2106+182190C>T)
c.503C>T
n.562C>T
3g.184326898C>ACA355413061EIF2B5,EIF4G1c.3343C>A (p.Pro1115Thr)
c.3277C>A (p.Pro1093Thr)
c.2690C>A (n.2690C>A)
c.2749C>A (p.Pro917Thr)
c.3346C>A (p.Pro1116Thr)
c.2851C>A (p.Pro951Thr)
c.3364C>A (p.Pro1122Thr)
c.3082C>A (p.Pro1028Thr)
c.3226C>A (p.Pro1076Thr)
c.3223C>A (p.Pro1075Thr)
c.3085C>A (p.Pro1029Thr)
c.2758C>A (p.Pro920Thr)
c.2755C>A (p.Pro919Thr)
c.2854C>A (p.Pro952Thr)
c.*2782C>A (n.*2782C>A)
c.2106+182191C>A (n.2106+182191C>A)
c.504C>A
n.563C>A
3g.184326898C=CA1425957757EIF2B5,EIF4G1c.3343C= (p.Pro1115=)
c.3277C= (p.Pro1093=)
c.2690C= (n.2690C=)
c.2749C= (p.Pro917=)
c.3346C= (p.Pro1116=)
c.2851C= (p.Pro951=)
c.3364C= (p.Pro1122=)
c.3082C= (p.Pro1028=)
c.3226C= (p.Pro1076=)
c.3223C= (p.Pro1075=)
c.3085C= (p.Pro1029=)
c.2758C= (p.Pro920=)
c.2755C= (p.Pro919=)
c.2854C= (p.Pro952=)
c.*2782C= (n.*2782C=)
c.2106+182191C= (n.2106+182191C=)
c.504C=
n.563C=
3g.184326898C>GCA355413063EIF2B5,EIF4G1c.3343C>G (p.Pro1115Ala)
c.3277C>G (p.Pro1093Ala)
c.2690C>G (n.2690C>G)
c.2749C>G (p.Pro917Ala)
c.3346C>G (p.Pro1116Ala)
c.2851C>G (p.Pro951Ala)
c.3364C>G (p.Pro1122Ala)
c.3082C>G (p.Pro1028Ala)
c.3226C>G (p.Pro1076Ala)
c.3223C>G (p.Pro1075Ala)
c.3085C>G (p.Pro1029Ala)
c.2758C>G (p.Pro920Ala)
c.2755C>G (p.Pro919Ala)
c.2854C>G (p.Pro952Ala)
c.*2782C>G (n.*2782C>G)
c.2106+182191C>G (n.2106+182191C>G)
c.504C>G
n.563C>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.184326898C>TCA355413067EIF2B5,EIF4G1c.3343C>T (p.Pro1115Ser)
c.3277C>T (p.Pro1093Ser)
c.2690C>T (n.2690C>T)
c.2749C>T (p.Pro917Ser)
c.3346C>T (p.Pro1116Ser)
c.2851C>T (p.Pro951Ser)
c.3364C>T (p.Pro1122Ser)
c.3082C>T (p.Pro1028Ser)
c.3226C>T (p.Pro1076Ser)
c.3223C>T (p.Pro1075Ser)
c.3085C>T (p.Pro1029Ser)
c.2758C>T (p.Pro920Ser)
c.2755C>T (p.Pro919Ser)
c.2854C>T (p.Pro952Ser)
c.*2782C>T (n.*2782C>T)
c.2106+182191C>T (n.2106+182191C>T)
c.504C>T
n.563C>T
3g.184326899C>ACA355413076EIF2B5,EIF4G1c.3344C>A (p.Pro1115Gln)
c.3278C>A (p.Pro1093Gln)
c.2691C>A (n.2691C>A)
c.2750C>A (p.Pro917Gln)
c.3347C>A (p.Pro1116Gln)
c.2852C>A (p.Pro951Gln)
c.3365C>A (p.Pro1122Gln)
c.3083C>A (p.Pro1028Gln)
c.3227C>A (p.Pro1076Gln)
c.3224C>A (p.Pro1075Gln)
c.3086C>A (p.Pro1029Gln)
c.2759C>A (p.Pro920Gln)
c.2756C>A (p.Pro919Gln)
c.2855C>A (p.Pro952Gln)
c.*2783C>A (n.*2783C>A)
c.2106+182192C>A (n.2106+182192C>A)
c.505C>A
n.564C>A
3g.184326899C=CA1425957761EIF2B5,EIF4G1c.3344C= (p.Pro1115=)
c.3278C= (p.Pro1093=)
c.2691C= (n.2691C=)
c.2750C= (p.Pro917=)
c.3347C= (p.Pro1116=)
c.2852C= (p.Pro951=)
c.3365C= (p.Pro1122=)
c.3083C= (p.Pro1028=)
c.3227C= (p.Pro1076=)
c.3224C= (p.Pro1075=)
c.3086C= (p.Pro1029=)
c.2759C= (p.Pro920=)
c.2756C= (p.Pro919=)
c.2855C= (p.Pro952=)
c.*2783C= (n.*2783C=)
c.2106+182192C= (n.2106+182192C=)
c.505C=
n.564C=
3g.184326899C>GCA355413074EIF2B5,EIF4G1c.3344C>G (p.Pro1115Arg)
c.3278C>G (p.Pro1093Arg)
c.2691C>G (n.2691C>G)
c.2750C>G (p.Pro917Arg)
c.3347C>G (p.Pro1116Arg)
c.2852C>G (p.Pro951Arg)
c.3365C>G (p.Pro1122Arg)
c.3083C>G (p.Pro1028Arg)
c.3227C>G (p.Pro1076Arg)
c.3224C>G (p.Pro1075Arg)
c.3086C>G (p.Pro1029Arg)
c.2759C>G (p.Pro920Arg)
c.2756C>G (p.Pro919Arg)
c.2855C>G (p.Pro952Arg)
c.*2783C>G (n.*2783C>G)
c.2106+182192C>G (n.2106+182192C>G)
c.505C>G
n.564C>G
3g.184326899C>TCA355413071EIF2B5,EIF4G1c.3344C>T (p.Pro1115Leu)
c.3278C>T (p.Pro1093Leu)
c.2691C>T (n.2691C>T)
c.2750C>T (p.Pro917Leu)
c.3347C>T (p.Pro1116Leu)
c.2852C>T (p.Pro951Leu)
c.3365C>T (p.Pro1122Leu)
c.3083C>T (p.Pro1028Leu)
c.3227C>T (p.Pro1076Leu)
c.3224C>T (p.Pro1075Leu)
c.3086C>T (p.Pro1029Leu)
c.2759C>T (p.Pro920Leu)
c.2756C>T (p.Pro919Leu)
c.2855C>T (p.Pro952Leu)
c.*2783C>T (n.*2783C>T)
c.2106+182192C>T (n.2106+182192C>T)
c.505C>T
n.564C>T
 dbSNP gnomAD v2 gnomAD v4
3g.184326900A=CA1425957763EIF2B5,EIF4G1c.3345A= (p.Pro1115=)
c.3279A= (p.Pro1093=)
c.2692A= (n.2692A=)
c.2751A= (p.Pro917=)
c.3348A= (p.Pro1116=)
c.2853A= (p.Pro951=)
c.3366A= (p.Pro1122=)
c.3084A= (p.Pro1028=)
c.3228A= (p.Pro1076=)
c.3225A= (p.Pro1075=)
c.3087A= (p.Pro1029=)
c.2760A= (p.Pro920=)
c.2757A= (p.Pro919=)
c.2856A= (p.Pro952=)
c.*2784A= (n.*2784A=)
c.2106+182193A= (n.2106+182193A=)
c.506A=
n.565A=
3g.184326900A>CCA437162085EIF2B5,EIF4G1c.3345A>C (p.Pro1115=)
c.3279A>C (p.Pro1093=)
c.2692A>C (n.2692A>C)
c.2751A>C (p.Pro917=)
c.3348A>C (p.Pro1116=)
c.2853A>C (p.Pro951=)
c.3366A>C (p.Pro1122=)
c.3084A>C (p.Pro1028=)
c.3228A>C (p.Pro1076=)
c.3225A>C (p.Pro1075=)
c.3087A>C (p.Pro1029=)
c.2760A>C (p.Pro920=)
c.2757A>C (p.Pro919=)
c.2856A>C (p.Pro952=)
c.*2784A>C (n.*2784A>C)
c.2106+182193A>C (n.2106+182193A>C)
c.506A>C
n.565A>C
3g.184326900A>GCA437162086EIF2B5,EIF4G1c.3345A>G (p.Pro1115=)
c.3279A>G (p.Pro1093=)
c.2692A>G (n.2692A>G)
c.2751A>G (p.Pro917=)
c.3348A>G (p.Pro1116=)
c.2853A>G (p.Pro951=)
c.3366A>G (p.Pro1122=)
c.3084A>G (p.Pro1028=)
c.3228A>G (p.Pro1076=)
c.3225A>G (p.Pro1075=)
c.3087A>G (p.Pro1029=)
c.2760A>G (p.Pro920=)
c.2757A>G (p.Pro919=)
c.2856A>G (p.Pro952=)
c.*2784A>G (n.*2784A>G)
c.2106+182193A>G (n.2106+182193A>G)
c.506A>G
n.565A>G
3g.184326900A>TCA437162087EIF2B5,EIF4G1c.3345A>T (p.Pro1115=)
c.3279A>T (p.Pro1093=)
c.2692A>T (n.2692A>T)
c.2751A>T (p.Pro917=)
c.3348A>T (p.Pro1116=)
c.2853A>T (p.Pro951=)
c.3366A>T (p.Pro1122=)
c.3084A>T (p.Pro1028=)
c.3228A>T (p.Pro1076=)
c.3225A>T (p.Pro1075=)
c.3087A>T (p.Pro1029=)
c.2760A>T (p.Pro920=)
c.2757A>T (p.Pro919=)
c.2856A>T (p.Pro952=)
c.*2784A>T (n.*2784A>T)
c.2106+182193A>T (n.2106+182193A>T)
c.506A>T
n.565A>T
3g.184326901G>ACA88867228EIF2B5,EIF4G1c.3346G>A (p.Ala1116Thr)
c.3280G>A (p.Ala1094Thr)
c.2693G>A (n.2693G>A)
c.2752G>A (p.Ala918Thr)
c.3349G>A (p.Ala1117Thr)
c.2854G>A (p.Ala952Thr)
c.3367G>A (p.Ala1123Thr)
c.3085G>A (p.Ala1029Thr)
c.3229G>A (p.Ala1077Thr)
c.3226G>A (p.Ala1076Thr)
c.3088G>A (p.Ala1030Thr)
c.2761G>A (p.Ala921Thr)
c.2758G>A (p.Ala920Thr)
c.2857G>A (p.Ala953Thr)
c.*2785G>A (n.*2785G>A)
c.2106+182194G>A (n.2106+182194G>A)
c.507G>A
n.566G>A
 dbSNP
3g.184326901G>CCA355413081EIF2B5,EIF4G1c.3346G>C (p.Ala1116Pro)
c.3280G>C (p.Ala1094Pro)
c.2693G>C (n.2693G>C)
c.2752G>C (p.Ala918Pro)
c.3349G>C (p.Ala1117Pro)
c.2854G>C (p.Ala952Pro)
c.3367G>C (p.Ala1123Pro)
c.3085G>C (p.Ala1029Pro)
c.3229G>C (p.Ala1077Pro)
c.3226G>C (p.Ala1076Pro)
c.3088G>C (p.Ala1030Pro)
c.2761G>C (p.Ala921Pro)
c.2758G>C (p.Ala920Pro)
c.2857G>C (p.Ala953Pro)
c.*2785G>C (n.*2785G>C)
c.2106+182194G>C (n.2106+182194G>C)
c.507G>C
n.566G>C
3g.184326901G=CA1425957767EIF2B5,EIF4G1c.3346G= (p.Ala1116=)
c.3280G= (p.Ala1094=)
c.2693G= (n.2693G=)
c.2752G= (p.Ala918=)
c.3349G= (p.Ala1117=)
c.2854G= (p.Ala952=)
c.3367G= (p.Ala1123=)
c.3085G= (p.Ala1029=)
c.3229G= (p.Ala1077=)
c.3226G= (p.Ala1076=)
c.3088G= (p.Ala1030=)
c.2761G= (p.Ala921=)
c.2758G= (p.Ala920=)
c.2857G= (p.Ala953=)
c.*2785G= (n.*2785G=)
c.2106+182194G= (n.2106+182194G=)
c.507G=
n.566G=
3g.184326901G>TCA355413084EIF2B5,EIF4G1c.3346G>T (p.Ala1116Ser)
c.3280G>T (p.Ala1094Ser)
c.2693G>T (n.2693G>T)
c.2752G>T (p.Ala918Ser)
c.3349G>T (p.Ala1117Ser)
c.2854G>T (p.Ala952Ser)
c.3367G>T (p.Ala1123Ser)
c.3085G>T (p.Ala1029Ser)
c.3229G>T (p.Ala1077Ser)
c.3226G>T (p.Ala1076Ser)
c.3088G>T (p.Ala1030Ser)
c.2761G>T (p.Ala921Ser)
c.2758G>T (p.Ala920Ser)
c.2857G>T (p.Ala953Ser)
c.*2785G>T (n.*2785G>T)
c.2106+182194G>T (n.2106+182194G>T)
c.507G>T
n.566G>T
3g.184326901_184326903dupCA548796073EIF2B5,EIF4G1c.3346_3348dup (p.Ala1116_Thr1117insAla)
c.3280_3282dup (p.Ala1094_Thr1095insAla)
c.2693_2695dup (n.2693_2695dup)
c.2752_2754dup (p.Ala918_Thr919insAla)
c.3349_3351dup (p.Ala1117_Thr1118insAla)
c.2854_2856dup (p.Ala952_Thr953insAla)
c.3367_3369dup (p.Ala1123_Thr1124insAla)
c.3085_3087dup (p.Ala1029_Thr1030insAla)
c.3229_3231dup (p.Ala1077_Thr1078insAla)
c.3226_3228dup (p.Ala1076_Thr1077insAla)
c.3088_3090dup (p.Ala1030_Thr1031insAla)
c.2761_2763dup (p.Ala921_Thr922insAla)
c.2758_2760dup (p.Ala920_Thr921insAla)
c.2857_2859dup (p.Ala953_Thr954insAla)
c.*2785_*2787dup (n.*2785_*2787dup)
c.2106+182194_2106+182196dup (n.2106+182194_2106+182196dup)
c.507_509dup
n.566_568dup
 dbSNP gnomAD v2 gnomAD v4
3g.184326902C>ACA355413090EIF2B5,EIF4G1c.3347C>A (p.Ala1116Asp)
c.3281C>A (p.Ala1094Asp)
c.2694C>A (n.2694C>A)
c.2753C>A (p.Ala918Asp)
c.3350C>A (p.Ala1117Asp)
c.2855C>A (p.Ala952Asp)
c.3368C>A (p.Ala1123Asp)
c.3086C>A (p.Ala1029Asp)
c.3230C>A (p.Ala1077Asp)
c.3227C>A (p.Ala1076Asp)
c.3089C>A (p.Ala1030Asp)
c.2762C>A (p.Ala921Asp)
c.2759C>A (p.Ala920Asp)
c.2858C>A (p.Ala953Asp)
c.*2786C>A (n.*2786C>A)
c.2106+182195C>A (n.2106+182195C>A)
c.508C>A
n.567C>A
3g.184326902C=CA1425957769EIF2B5,EIF4G1c.3347C= (p.Ala1116=)
c.3281C= (p.Ala1094=)
c.2694C= (n.2694C=)
c.2753C= (p.Ala918=)
c.3350C= (p.Ala1117=)
c.2855C= (p.Ala952=)
c.3368C= (p.Ala1123=)
c.3086C= (p.Ala1029=)
c.3230C= (p.Ala1077=)
c.3227C= (p.Ala1076=)
c.3089C= (p.Ala1030=)
c.2762C= (p.Ala921=)
c.2759C= (p.Ala920=)
c.2858C= (p.Ala953=)
c.*2786C= (n.*2786C=)
c.2106+182195C= (n.2106+182195C=)
c.508C=
n.567C=
3g.184326902C>GCA355413091EIF2B5,EIF4G1c.3347C>G (p.Ala1116Gly)
c.3281C>G (p.Ala1094Gly)
c.2694C>G (n.2694C>G)
c.2753C>G (p.Ala918Gly)
c.3350C>G (p.Ala1117Gly)
c.2855C>G (p.Ala952Gly)
c.3368C>G (p.Ala1123Gly)
c.3086C>G (p.Ala1029Gly)
c.3230C>G (p.Ala1077Gly)
c.3227C>G (p.Ala1076Gly)
c.3089C>G (p.Ala1030Gly)
c.2762C>G (p.Ala921Gly)
c.2759C>G (p.Ala920Gly)
c.2858C>G (p.Ala953Gly)
c.*2786C>G (n.*2786C>G)
c.2106+182195C>G (n.2106+182195C>G)
c.508C>G
n.567C>G
 dbSNP gnomAD v3 gnomAD v4
3g.184326902C>TCA355413094EIF2B5,EIF4G1c.3347C>T (p.Ala1116Val)
c.3281C>T (p.Ala1094Val)
c.2694C>T (n.2694C>T)
c.2753C>T (p.Ala918Val)
c.3350C>T (p.Ala1117Val)
c.2855C>T (p.Ala952Val)
c.3368C>T (p.Ala1123Val)
c.3086C>T (p.Ala1029Val)
c.3230C>T (p.Ala1077Val)
c.3227C>T (p.Ala1076Val)
c.3089C>T (p.Ala1030Val)
c.2762C>T (p.Ala921Val)
c.2759C>T (p.Ala920Val)
c.2858C>T (p.Ala953Val)
c.*2786C>T (n.*2786C>T)
c.2106+182195C>T (n.2106+182195C>T)
c.508C>T
n.567C>T
3g.184326903T>ACA437162090EIF2B5,EIF4G1c.3348T>A (p.Ala1116=)
c.3282T>A (p.Ala1094=)
c.2695T>A (n.2695T>A)
c.2754T>A (p.Ala918=)
c.3351T>A (p.Ala1117=)
c.2856T>A (p.Ala952=)
c.3369T>A (p.Ala1123=)
c.3087T>A (p.Ala1029=)
c.3231T>A (p.Ala1077=)
c.3228T>A (p.Ala1076=)
c.3090T>A (p.Ala1030=)
c.2763T>A (p.Ala921=)
c.2760T>A (p.Ala920=)
c.2859T>A (p.Ala953=)
c.*2787T>A (n.*2787T>A)
c.2106+182196T>A (n.2106+182196T>A)
c.509T>A
n.568T>A
3g.184326903T>CCA437162088EIF2B5,EIF4G1c.3348T>C (p.Ala1116=)
c.3282T>C (p.Ala1094=)
c.2695T>C (n.2695T>C)
c.2754T>C (p.Ala918=)
c.3351T>C (p.Ala1117=)
c.2856T>C (p.Ala952=)
c.3369T>C (p.Ala1123=)
c.3087T>C (p.Ala1029=)
c.3231T>C (p.Ala1077=)
c.3228T>C (p.Ala1076=)
c.3090T>C (p.Ala1030=)
c.2763T>C (p.Ala921=)
c.2760T>C (p.Ala920=)
c.2859T>C (p.Ala953=)
c.*2787T>C (n.*2787T>C)
c.2106+182196T>C (n.2106+182196T>C)
c.509T>C
n.568T>C
3g.184326903T>GCA437162089EIF2B5,EIF4G1c.3348T>G (p.Ala1116=)
c.3282T>G (p.Ala1094=)
c.2695T>G (n.2695T>G)
c.2754T>G (p.Ala918=)
c.3351T>G (p.Ala1117=)
c.2856T>G (p.Ala952=)
c.3369T>G (p.Ala1123=)
c.3087T>G (p.Ala1029=)
c.3231T>G (p.Ala1077=)
c.3228T>G (p.Ala1076=)
c.3090T>G (p.Ala1030=)
c.2763T>G (p.Ala921=)
c.2760T>G (p.Ala920=)
c.2859T>G (p.Ala953=)
c.*2787T>G (n.*2787T>G)
c.2106+182196T>G (n.2106+182196T>G)
c.509T>G
n.568T>G
3g.184326904A=CA1425957773EIF2B5,EIF4G1c.3349A= (p.Thr1117=)
c.3283A= (p.Thr1095=)
c.2696A= (n.2696A=)
c.2755A= (p.Thr919=)
c.3352A= (p.Thr1118=)
c.2857A= (p.Thr953=)
c.3370A= (p.Thr1124=)
c.3088A= (p.Thr1030=)
c.3232A= (p.Thr1078=)
c.3229A= (p.Thr1077=)
c.3091A= (p.Thr1031=)
c.2764A= (p.Thr922=)
c.2761A= (p.Thr921=)
c.2860A= (p.Thr954=)
c.*2788A= (n.*2788A=)
c.2106+182197A= (n.2106+182197A=)
c.510A=
n.569A=
3g.184326904A>CCA355413097EIF2B5,EIF4G1c.3349A>C (p.Thr1117Pro)
c.3283A>C (p.Thr1095Pro)
c.2696A>C (n.2696A>C)
c.2755A>C (p.Thr919Pro)
c.3352A>C (p.Thr1118Pro)
c.2857A>C (p.Thr953Pro)
c.3370A>C (p.Thr1124Pro)
c.3088A>C (p.Thr1030Pro)
c.3232A>C (p.Thr1078Pro)
c.3229A>C (p.Thr1077Pro)
c.3091A>C (p.Thr1031Pro)
c.2764A>C (p.Thr922Pro)
c.2761A>C (p.Thr921Pro)
c.2860A>C (p.Thr954Pro)
c.*2788A>C (n.*2788A>C)
c.2106+182197A>C (n.2106+182197A>C)
c.510A>C
n.569A>C
3g.184326904A>GCA88867229EIF2B5,EIF4G1c.3349A>G (p.Thr1117Ala)
c.3283A>G (p.Thr1095Ala)
c.2696A>G (n.2696A>G)
c.2755A>G (p.Thr919Ala)
c.3352A>G (p.Thr1118Ala)
c.2857A>G (p.Thr953Ala)
c.3370A>G (p.Thr1124Ala)
c.3088A>G (p.Thr1030Ala)
c.3232A>G (p.Thr1078Ala)
c.3229A>G (p.Thr1077Ala)
c.3091A>G (p.Thr1031Ala)
c.2764A>G (p.Thr922Ala)
c.2761A>G (p.Thr921Ala)
c.2860A>G (p.Thr954Ala)
c.*2788A>G (n.*2788A>G)
c.2106+182197A>G (n.2106+182197A>G)
c.510A>G
n.569A>G
 dbSNP gnomAD v4 COSMIC
3g.184326904A>TCA355413101EIF2B5,EIF4G1c.3349A>T (p.Thr1117Ser)
c.3283A>T (p.Thr1095Ser)
c.2696A>T (n.2696A>T)
c.2755A>T (p.Thr919Ser)
c.3352A>T (p.Thr1118Ser)
c.2857A>T (p.Thr953Ser)
c.3370A>T (p.Thr1124Ser)
c.3088A>T (p.Thr1030Ser)
c.3232A>T (p.Thr1078Ser)
c.3229A>T (p.Thr1077Ser)
c.3091A>T (p.Thr1031Ser)
c.2764A>T (p.Thr922Ser)
c.2761A>T (p.Thr921Ser)
c.2860A>T (p.Thr954Ser)
c.*2788A>T (n.*2788A>T)
c.2106+182197A>T (n.2106+182197A>T)
c.510A>T
n.569A>T
 dbSNP gnomAD v2 gnomAD v4
3g.184326905C>ACA355413105EIF2B5,EIF4G1c.3350C>A (p.Thr1117Asn)
c.3284C>A (p.Thr1095Asn)
c.2697C>A (n.2697C>A)
c.2756C>A (p.Thr919Asn)
c.3353C>A (p.Thr1118Asn)
c.2858C>A (p.Thr953Asn)
c.3371C>A (p.Thr1124Asn)
c.3089C>A (p.Thr1030Asn)
c.3233C>A (p.Thr1078Asn)
c.3230C>A (p.Thr1077Asn)
c.3092C>A (p.Thr1031Asn)
c.2765C>A (p.Thr922Asn)
c.2762C>A (p.Thr921Asn)
c.2861C>A (p.Thr954Asn)
c.*2789C>A (n.*2789C>A)
c.2106+182198C>A (n.2106+182198C>A)
c.511C>A
n.570C>A
3g.184326905C>GCA355413106EIF2B5,EIF4G1c.3350C>G (p.Thr1117Ser)
c.3284C>G (p.Thr1095Ser)
c.2697C>G (n.2697C>G)
c.2756C>G (p.Thr919Ser)
c.3353C>G (p.Thr1118Ser)
c.2858C>G (p.Thr953Ser)
c.3371C>G (p.Thr1124Ser)
c.3089C>G (p.Thr1030Ser)
c.3233C>G (p.Thr1078Ser)
c.3230C>G (p.Thr1077Ser)
c.3092C>G (p.Thr1031Ser)
c.2765C>G (p.Thr922Ser)
c.2762C>G (p.Thr921Ser)
c.2861C>G (p.Thr954Ser)
c.*2789C>G (n.*2789C>G)
c.2106+182198C>G (n.2106+182198C>G)
c.511C>G
n.570C>G
3g.184326905C>TCA355413110EIF2B5,EIF4G1c.3350C>T (p.Thr1117Ile)
c.3284C>T (p.Thr1095Ile)
c.2697C>T (n.2697C>T)
c.2756C>T (p.Thr919Ile)
c.3353C>T (p.Thr1118Ile)
c.2858C>T (p.Thr953Ile)
c.3371C>T (p.Thr1124Ile)
c.3089C>T (p.Thr1030Ile)
c.3233C>T (p.Thr1078Ile)
c.3230C>T (p.Thr1077Ile)
c.3092C>T (p.Thr1031Ile)
c.2765C>T (p.Thr922Ile)
c.2762C>T (p.Thr921Ile)
c.2861C>T (p.Thr954Ile)
c.*2789C>T (n.*2789C>T)
c.2106+182198C>T (n.2106+182198C>T)
c.511C>T
n.570C>T
 gnomAD v4
3g.184326906T>ACA437162091EIF2B5,EIF4G1c.3351T>A (p.Thr1117=)
c.3285T>A (p.Thr1095=)
c.2698T>A (n.2698T>A)
c.2757T>A (p.Thr919=)
c.3354T>A (p.Thr1118=)
c.2859T>A (p.Thr953=)
c.3372T>A (p.Thr1124=)
c.3090T>A (p.Thr1030=)
c.3234T>A (p.Thr1078=)
c.3231T>A (p.Thr1077=)
c.3093T>A (p.Thr1031=)
c.2766T>A (p.Thr922=)
c.2763T>A (p.Thr921=)
c.2862T>A (p.Thr954=)
c.*2790T>A (n.*2790T>A)
c.2106+182199T>A (n.2106+182199T>A)
c.512T>A
n.571T>A
3g.184326906T>CCA437162092EIF2B5,EIF4G1c.3351T>C (p.Thr1117=)
c.3285T>C (p.Thr1095=)
c.2698T>C (n.2698T>C)
c.2757T>C (p.Thr919=)
c.3354T>C (p.Thr1118=)
c.2859T>C (p.Thr953=)
c.3372T>C (p.Thr1124=)
c.3090T>C (p.Thr1030=)
c.3234T>C (p.Thr1078=)
c.3231T>C (p.Thr1077=)
c.3093T>C (p.Thr1031=)
c.2766T>C (p.Thr922=)
c.2763T>C (p.Thr921=)
c.2862T>C (p.Thr954=)
c.*2790T>C (n.*2790T>C)
c.2106+182199T>C (n.2106+182199T>C)
c.512T>C
n.571T>C
3g.184326906T>GCA437162093EIF2B5,EIF4G1c.3351T>G (p.Thr1117=)
c.3285T>G (p.Thr1095=)
c.2698T>G (n.2698T>G)
c.2757T>G (p.Thr919=)
c.3354T>G (p.Thr1118=)
c.2859T>G (p.Thr953=)
c.3372T>G (p.Thr1124=)
c.3090T>G (p.Thr1030=)
c.3234T>G (p.Thr1078=)
c.3231T>G (p.Thr1077=)
c.3093T>G (p.Thr1031=)
c.2766T>G (p.Thr922=)
c.2763T>G (p.Thr921=)
c.2862T>G (p.Thr954=)
c.*2790T>G (n.*2790T>G)
c.2106+182199T>G (n.2106+182199T>G)
c.512T>G
n.571T>G
3g.184326907A>CCA355413119EIF2B5,EIF4G1c.3352A>C (p.Ser1118Arg)
c.3286A>C (p.Ser1096Arg)
c.2699A>C (n.2699A>C)
c.2758A>C (p.Ser920Arg)
c.3355A>C (p.Ser1119Arg)
c.2860A>C (p.Ser954Arg)
c.3373A>C (p.Ser1125Arg)
c.3091A>C (p.Ser1031Arg)
c.3235A>C (p.Ser1079Arg)
c.3232A>C (p.Ser1078Arg)
c.3094A>C (p.Ser1032Arg)
c.2767A>C (p.Ser923Arg)
c.2764A>C (p.Ser922Arg)
c.2863A>C (p.Ser955Arg)
c.*2791A>C (n.*2791A>C)
c.2106+182200A>C (n.2106+182200A>C)
c.513A>C
n.572A>C
3g.184326907A>GCA355413122EIF2B5,EIF4G1c.3352A>G (p.Ser1118Gly)
c.3286A>G (p.Ser1096Gly)
c.2699A>G (n.2699A>G)
c.2758A>G (p.Ser920Gly)
c.3355A>G (p.Ser1119Gly)
c.2860A>G (p.Ser954Gly)
c.3373A>G (p.Ser1125Gly)
c.3091A>G (p.Ser1031Gly)
c.3235A>G (p.Ser1079Gly)
c.3232A>G (p.Ser1078Gly)
c.3094A>G (p.Ser1032Gly)
c.2767A>G (p.Ser923Gly)
c.2764A>G (p.Ser922Gly)
c.2863A>G (p.Ser955Gly)
c.*2791A>G (n.*2791A>G)
c.2106+182200A>G (n.2106+182200A>G)
c.513A>G
n.572A>G
 gnomAD v4
3g.184326907A>TCA355413116EIF2B5,EIF4G1c.3352A>T (p.Ser1118Cys)
c.3286A>T (p.Ser1096Cys)
c.2699A>T (n.2699A>T)
c.2758A>T (p.Ser920Cys)
c.3355A>T (p.Ser1119Cys)
c.2860A>T (p.Ser954Cys)
c.3373A>T (p.Ser1125Cys)
c.3091A>T (p.Ser1031Cys)
c.3235A>T (p.Ser1079Cys)
c.3232A>T (p.Ser1078Cys)
c.3094A>T (p.Ser1032Cys)
c.2767A>T (p.Ser923Cys)
c.2764A>T (p.Ser922Cys)
c.2863A>T (p.Ser955Cys)
c.*2791A>T (n.*2791A>T)
c.2106+182200A>T (n.2106+182200A>T)
c.513A>T
n.572A>T
3g.184326908G>ACA355413125EIF2B5,EIF4G1c.3353G>A (p.Ser1118Asn)
c.3287G>A (p.Ser1096Asn)
c.2700G>A (n.2700G>A)
c.2759G>A (p.Ser920Asn)
c.3356G>A (p.Ser1119Asn)
c.2861G>A (p.Ser954Asn)
c.3374G>A (p.Ser1125Asn)
c.3092G>A (p.Ser1031Asn)
c.3236G>A (p.Ser1079Asn)
c.3233G>A (p.Ser1078Asn)
c.3095G>A (p.Ser1032Asn)
c.2768G>A (p.Ser923Asn)
c.2765G>A (p.Ser922Asn)
c.2864G>A (p.Ser955Asn)
c.*2792G>A (n.*2792G>A)
c.2106+182201G>A (n.2106+182201G>A)
c.514G>A
n.573G>A
 gnomAD v4
3g.184326908G>CCA355413129EIF2B5,EIF4G1c.3353G>C (p.Ser1118Thr)
c.3287G>C (p.Ser1096Thr)
c.2700G>C (n.2700G>C)
c.2759G>C (p.Ser920Thr)
c.3356G>C (p.Ser1119Thr)
c.2861G>C (p.Ser954Thr)
c.3374G>C (p.Ser1125Thr)
c.3092G>C (p.Ser1031Thr)
c.3236G>C (p.Ser1079Thr)
c.3233G>C (p.Ser1078Thr)
c.3095G>C (p.Ser1032Thr)
c.2768G>C (p.Ser923Thr)
c.2765G>C (p.Ser922Thr)
c.2864G>C (p.Ser955Thr)
c.*2792G>C (n.*2792G>C)
c.2106+182201G>C (n.2106+182201G>C)
c.514G>C
n.573G>C
3g.184326908G>TCA355413132EIF2B5,EIF4G1c.3353G>T (p.Ser1118Ile)
c.3287G>T (p.Ser1096Ile)
c.2700G>T (n.2700G>T)
c.2759G>T (p.Ser920Ile)
c.3356G>T (p.Ser1119Ile)
c.2861G>T (p.Ser954Ile)
c.3374G>T (p.Ser1125Ile)
c.3092G>T (p.Ser1031Ile)
c.3236G>T (p.Ser1079Ile)
c.3233G>T (p.Ser1078Ile)
c.3095G>T (p.Ser1032Ile)
c.2768G>T (p.Ser923Ile)
c.2765G>T (p.Ser922Ile)
c.2864G>T (p.Ser955Ile)
c.*2792G>T (n.*2792G>T)
c.2106+182201G>T (n.2106+182201G>T)
c.514G>T
n.573G>T
3g.184326909T>ACA355413134EIF2B5,EIF4G1c.3354T>A (p.Ser1118Arg)
c.3288T>A (p.Ser1096Arg)
c.2701T>A (n.2701T>A)
c.2760T>A (p.Ser920Arg)
c.3357T>A (p.Ser1119Arg)
c.2862T>A (p.Ser954Arg)
c.3375T>A (p.Ser1125Arg)
c.3093T>A (p.Ser1031Arg)
c.3237T>A (p.Ser1079Arg)
c.3234T>A (p.Ser1078Arg)
c.3096T>A (p.Ser1032Arg)
c.2769T>A (p.Ser923Arg)
c.2766T>A (p.Ser922Arg)
c.2865T>A (p.Ser955Arg)
c.*2793T>A (n.*2793T>A)
c.2106+182202T>A (n.2106+182202T>A)
c.515T>A
 dbSNP
3g.184326909T>CCA437162094EIF2B5,EIF4G1c.3354T>C (p.Ser1118=)
c.3288T>C (p.Ser1096=)
c.2701T>C (n.2701T>C)
c.2760T>C (p.Ser920=)
c.3357T>C (p.Ser1119=)
c.2862T>C (p.Ser954=)
c.3375T>C (p.Ser1125=)
c.3093T>C (p.Ser1031=)
c.3237T>C (p.Ser1079=)
c.3234T>C (p.Ser1078=)
c.3096T>C (p.Ser1032=)
c.2769T>C (p.Ser923=)
c.2766T>C (p.Ser922=)
c.2865T>C (p.Ser955=)
c.*2793T>C (n.*2793T>C)
c.2106+182202T>C (n.2106+182202T>C)
c.515T>C
 dbSNP
3g.184326909T>GCA355413139EIF2B5,EIF4G1c.3354T>G (p.Ser1118Arg)
c.3288T>G (p.Ser1096Arg)
c.2701T>G (n.2701T>G)
c.2760T>G (p.Ser920Arg)
c.3357T>G (p.Ser1119Arg)
c.2862T>G (p.Ser954Arg)
c.3375T>G (p.Ser1125Arg)
c.3093T>G (p.Ser1031Arg)
c.3237T>G (p.Ser1079Arg)
c.3234T>G (p.Ser1078Arg)
c.3096T>G (p.Ser1032Arg)
c.2769T>G (p.Ser923Arg)
c.2766T>G (p.Ser922Arg)
c.2865T>G (p.Ser955Arg)
c.*2793T>G (n.*2793T>G)
c.2106+182202T>G (n.2106+182202T>G)
c.515T>G
 dbSNP gnomAD v2 gnomAD v4
3g.184326909T=CA1425957777EIF2B5,EIF4G1c.3354T= (p.Ser1118=)
c.3288T= (p.Ser1096=)
c.2701T= (n.2701T=)
c.2760T= (p.Ser920=)
c.3357T= (p.Ser1119=)
c.2862T= (p.Ser954=)
c.3375T= (p.Ser1125=)
c.3093T= (p.Ser1031=)
c.3237T= (p.Ser1079=)
c.3234T= (p.Ser1078=)
c.3096T= (p.Ser1032=)
c.2769T= (p.Ser923=)
c.2766T= (p.Ser922=)
c.2865T= (p.Ser955=)
c.*2793T= (n.*2793T=)
c.2106+182202T= (n.2106+182202T=)
c.515T=
3g.184326910A>CCA355413150EIF2B5,EIF4G1c.3355A>C (p.Thr1119Pro)
c.3289A>C (p.Thr1097Pro)
c.2702A>C (n.2702A>C)
c.2761A>C (p.Thr921Pro)
c.3358A>C (p.Thr1120Pro)
c.2863A>C (p.Thr955Pro)
c.3376A>C (p.Thr1126Pro)
c.3094A>C (p.Thr1032Pro)
c.3238A>C (p.Thr1080Pro)
c.3235A>C (p.Thr1079Pro)
c.3097A>C (p.Thr1033Pro)
c.2770A>C (p.Thr924Pro)
c.2767A>C (p.Thr923Pro)
c.2866A>C (p.Thr956Pro)
c.*2794A>C (n.*2794A>C)
c.2106+182203A>C (n.2106+182203A>C)
c.516A>C
3g.184326910A>GCA355413147EIF2B5,EIF4G1c.3355A>G (p.Thr1119Ala)
c.3289A>G (p.Thr1097Ala)
c.2702A>G (n.2702A>G)
c.2761A>G (p.Thr921Ala)
c.3358A>G (p.Thr1120Ala)
c.2863A>G (p.Thr955Ala)
c.3376A>G (p.Thr1126Ala)
c.3094A>G (p.Thr1032Ala)
c.3238A>G (p.Thr1080Ala)
c.3235A>G (p.Thr1079Ala)
c.3097A>G (p.Thr1033Ala)
c.2770A>G (p.Thr924Ala)
c.2767A>G (p.Thr923Ala)
c.2866A>G (p.Thr956Ala)
c.*2794A>G (n.*2794A>G)
c.2106+182203A>G (n.2106+182203A>G)
c.516A>G
3g.184326910A>TCA355413143EIF2B5,EIF4G1c.3355A>T (p.Thr1119Ser)
c.3289A>T (p.Thr1097Ser)
c.2702A>T (n.2702A>T)
c.2761A>T (p.Thr921Ser)
c.3358A>T (p.Thr1120Ser)
c.2863A>T (p.Thr955Ser)
c.3376A>T (p.Thr1126Ser)
c.3094A>T (p.Thr1032Ser)
c.3238A>T (p.Thr1080Ser)
c.3235A>T (p.Thr1079Ser)
c.3097A>T (p.Thr1033Ser)
c.2770A>T (p.Thr924Ser)
c.2767A>T (p.Thr923Ser)
c.2866A>T (p.Thr956Ser)
c.*2794A>T (n.*2794A>T)
c.2106+182203A>T (n.2106+182203A>T)
c.516A>T
3g.184326911C>ACA355413155EIF2B5,EIF4G1c.3356C>A (p.Thr1119Asn)
c.3290C>A (p.Thr1097Asn)
c.2703C>A (n.2703C>A)
c.2762C>A (p.Thr921Asn)
c.3359C>A (p.Thr1120Asn)
c.2864C>A (p.Thr955Asn)
c.3377C>A (p.Thr1126Asn)
c.3095C>A (p.Thr1032Asn)
c.3239C>A (p.Thr1080Asn)
c.3236C>A (p.Thr1079Asn)
c.3098C>A (p.Thr1033Asn)
c.2771C>A (p.Thr924Asn)
c.2768C>A (p.Thr923Asn)
c.2867C>A (p.Thr956Asn)
c.*2795C>A (n.*2795C>A)
c.2106+182204C>A (n.2106+182204C>A)
c.517C>A
3g.184326911C=CA1425957780EIF2B5,EIF4G1c.3356C= (p.Thr1119=)
c.3290C= (p.Thr1097=)
c.2703C= (n.2703C=)
c.2762C= (p.Thr921=)
c.3359C= (p.Thr1120=)
c.2864C= (p.Thr955=)
c.3377C= (p.Thr1126=)
c.3095C= (p.Thr1032=)
c.3239C= (p.Thr1080=)
c.3236C= (p.Thr1079=)
c.3098C= (p.Thr1033=)
c.2771C= (p.Thr924=)
c.2768C= (p.Thr923=)
c.2867C= (p.Thr956=)
c.*2795C= (n.*2795C=)
c.2106+182204C= (n.2106+182204C=)
c.517C=
3g.184326911C>GCA355413157EIF2B5,EIF4G1c.3356C>G (p.Thr1119Ser)
c.3290C>G (p.Thr1097Ser)
c.2703C>G (n.2703C>G)
c.2762C>G (p.Thr921Ser)
c.3359C>G (p.Thr1120Ser)
c.2864C>G (p.Thr955Ser)
c.3377C>G (p.Thr1126Ser)
c.3095C>G (p.Thr1032Ser)
c.3239C>G (p.Thr1080Ser)
c.3236C>G (p.Thr1079Ser)
c.3098C>G (p.Thr1033Ser)
c.2771C>G (p.Thr924Ser)
c.2768C>G (p.Thr923Ser)
c.2867C>G (p.Thr956Ser)
c.*2795C>G (n.*2795C>G)
c.2106+182204C>G (n.2106+182204C>G)
c.517C>G
3g.184326911C>TCA2732771EIF2B5,EIF4G1c.3356C>T (p.Thr1119Ile)
c.3290C>T (p.Thr1097Ile)
c.2703C>T (n.2703C>T)
c.2762C>T (p.Thr921Ile)
c.3359C>T (p.Thr1120Ile)
c.2864C>T (p.Thr955Ile)
c.3377C>T (p.Thr1126Ile)
c.3095C>T (p.Thr1032Ile)
c.3239C>T (p.Thr1080Ile)
c.3236C>T (p.Thr1079Ile)
c.3098C>T (p.Thr1033Ile)
c.2771C>T (p.Thr924Ile)
c.2768C>T (p.Thr923Ile)
c.2867C>T (p.Thr956Ile)
c.*2795C>T (n.*2795C>T)
c.2106+182204C>T (n.2106+182204C>T)
c.517C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.184326912T>ACA437162095EIF2B5,EIF4G1c.3357T>A (p.Thr1119=)
c.3291T>A (p.Thr1097=)
c.2704T>A (n.2704T>A)
c.2763T>A (p.Thr921=)
c.3360T>A (p.Thr1120=)
c.2865T>A (p.Thr955=)
c.3378T>A (p.Thr1126=)
c.3096T>A (p.Thr1032=)
c.3240T>A (p.Thr1080=)
c.3237T>A (p.Thr1079=)
c.3099T>A (p.Thr1033=)
c.2772T>A (p.Thr924=)
c.2769T>A (p.Thr923=)
c.2868T>A (p.Thr956=)
c.*2796T>A (n.*2796T>A)
c.2106+182205T>A (n.2106+182205T>A)
c.518T>A
3g.184326912T>CCA437162096EIF2B5,EIF4G1c.3357T>C (p.Thr1119=)
c.3291T>C (p.Thr1097=)
c.2704T>C (n.2704T>C)
c.2763T>C (p.Thr921=)
c.3360T>C (p.Thr1120=)
c.2865T>C (p.Thr955=)
c.3378T>C (p.Thr1126=)
c.3096T>C (p.Thr1032=)
c.3240T>C (p.Thr1080=)
c.3237T>C (p.Thr1079=)
c.3099T>C (p.Thr1033=)
c.2772T>C (p.Thr924=)
c.2769T>C (p.Thr923=)
c.2868T>C (p.Thr956=)
c.*2796T>C (n.*2796T>C)
c.2106+182205T>C (n.2106+182205T>C)
c.518T>C
3g.184326912T>GCA2732772EIF2B5,EIF4G1c.3357T>G (p.Thr1119=)
c.3291T>G (p.Thr1097=)
c.2704T>G (n.2704T>G)
c.2763T>G (p.Thr921=)
c.3360T>G (p.Thr1120=)
c.2865T>G (p.Thr955=)
c.3378T>G (p.Thr1126=)
c.3096T>G (p.Thr1032=)
c.3240T>G (p.Thr1080=)
c.3237T>G (p.Thr1079=)
c.3099T>G (p.Thr1033=)
c.2772T>G (p.Thr924=)
c.2769T>G (p.Thr923=)
c.2868T>G (p.Thr956=)
c.*2796T>G (n.*2796T>G)
c.2106+182205T>G (n.2106+182205T>G)
c.518T>G
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.184326912T=CA1425957782EIF2B5,EIF4G1c.3357T= (p.Thr1119=)
c.3291T= (p.Thr1097=)
c.2704T= (n.2704T=)
c.2763T= (p.Thr921=)
c.3360T= (p.Thr1120=)
c.2865T= (p.Thr955=)
c.3378T= (p.Thr1126=)
c.3096T= (p.Thr1032=)
c.3240T= (p.Thr1080=)
c.3237T= (p.Thr1079=)
c.3099T= (p.Thr1033=)
c.2772T= (p.Thr924=)
c.2769T= (p.Thr923=)
c.2868T= (p.Thr956=)
c.*2796T= (n.*2796T=)
c.2106+182205T= (n.2106+182205T=)
c.518T=
3g.184326913T>ACA355413166EIF2B5,EIF4G1c.3358T>A (p.Leu1120Met)
c.3292T>A (p.Leu1098Met)
c.2705T>A (n.2705T>A)
c.2764T>A (p.Leu922Met)
c.3361T>A (p.Leu1121Met)
c.2866T>A (p.Leu956Met)
c.3379T>A (p.Leu1127Met)
c.3097T>A (p.Leu1033Met)
c.3241T>A (p.Leu1081Met)
c.3238T>A (p.Leu1080Met)
c.3100T>A (p.Leu1034Met)
c.2773T>A (p.Leu925Met)
c.2770T>A (p.Leu924Met)
c.2869T>A (p.Leu957Met)
c.*2797T>A (n.*2797T>A)
c.2106+182206T>A (n.2106+182206T>A)
c.519T>A
3g.184326913T>CCA437162097EIF2B5,EIF4G1c.3358T>C (p.Leu1120=)
c.3292T>C (p.Leu1098=)
c.2705T>C (n.2705T>C)
c.2764T>C (p.Leu922=)
c.3361T>C (p.Leu1121=)
c.2866T>C (p.Leu956=)
c.3379T>C (p.Leu1127=)
c.3097T>C (p.Leu1033=)
c.3241T>C (p.Leu1081=)
c.3238T>C (p.Leu1080=)
c.3100T>C (p.Leu1034=)
c.2773T>C (p.Leu925=)
c.2770T>C (p.Leu924=)
c.2869T>C (p.Leu957=)
c.*2797T>C (n.*2797T>C)
c.2106+182206T>C (n.2106+182206T>C)
c.519T>C
 dbSNP
3g.184326913T>GCA355413169EIF2B5,EIF4G1c.3358T>G (p.Leu1120Val)
c.3292T>G (p.Leu1098Val)
c.2705T>G (n.2705T>G)
c.2764T>G (p.Leu922Val)
c.3361T>G (p.Leu1121Val)
c.2866T>G (p.Leu956Val)
c.3379T>G (p.Leu1127Val)
c.3097T>G (p.Leu1033Val)
c.3241T>G (p.Leu1081Val)
c.3238T>G (p.Leu1080Val)
c.3100T>G (p.Leu1034Val)
c.2773T>G (p.Leu925Val)
c.2770T>G (p.Leu924Val)
c.2869T>G (p.Leu957Val)
c.*2797T>G (n.*2797T>G)
c.2106+182206T>G (n.2106+182206T>G)
c.519T>G
3g.184326913T=CA1425957784EIF2B5,EIF4G1c.3358T= (p.Leu1120=)
c.3292T= (p.Leu1098=)
c.2705T= (n.2705T=)
c.2764T= (p.Leu922=)
c.3361T= (p.Leu1121=)
c.2866T= (p.Leu956=)
c.3379T= (p.Leu1127=)
c.3097T= (p.Leu1033=)
c.3241T= (p.Leu1081=)
c.3238T= (p.Leu1080=)
c.3100T= (p.Leu1034=)
c.2773T= (p.Leu925=)
c.2770T= (p.Leu924=)
c.2869T= (p.Leu957=)
c.*2797T= (n.*2797T=)
c.2106+182206T= (n.2106+182206T=)
c.519T=
3g.184326914T>ACA355413175EIF2B5,EIF4G1c.3359T>A (p.Leu1120Ter)
c.3293T>A (p.Leu1098Ter)
c.2706T>A (n.2706T>A)
c.2765T>A (p.Leu922Ter)
c.3362T>A (p.Leu1121Ter)
c.2867T>A (p.Leu956Ter)
c.3380T>A (p.Leu1127Ter)
c.3098T>A (p.Leu1033Ter)
c.3242T>A (p.Leu1081Ter)
c.3239T>A (p.Leu1080Ter)
c.3101T>A (p.Leu1034Ter)
c.2774T>A (p.Leu925Ter)
c.2771T>A (p.Leu924Ter)
c.2870T>A (p.Leu957Ter)
c.*2798T>A (n.*2798T>A)
c.2106+182207T>A (n.2106+182207T>A)
c.520T>A
3g.184326914T>CCA355413181EIF2B5,EIF4G1c.3359T>C (p.Leu1120Ser)
c.3293T>C (p.Leu1098Ser)
c.2706T>C (n.2706T>C)
c.2765T>C (p.Leu922Ser)
c.3362T>C (p.Leu1121Ser)
c.2867T>C (p.Leu956Ser)
c.3380T>C (p.Leu1127Ser)
c.3098T>C (p.Leu1033Ser)
c.3242T>C (p.Leu1081Ser)
c.3239T>C (p.Leu1080Ser)
c.3101T>C (p.Leu1034Ser)
c.2774T>C (p.Leu925Ser)
c.2771T>C (p.Leu924Ser)
c.2870T>C (p.Leu957Ser)
c.*2798T>C (n.*2798T>C)
c.2106+182207T>C (n.2106+182207T>C)
c.520T>C
3g.184326914T>GCA2732773EIF2B5,EIF4G1c.3359T>G (p.Leu1120Trp)
c.3293T>G (p.Leu1098Trp)
c.2706T>G (n.2706T>G)
c.2765T>G (p.Leu922Trp)
c.3362T>G (p.Leu1121Trp)
c.2867T>G (p.Leu956Trp)
c.3380T>G (p.Leu1127Trp)
c.3098T>G (p.Leu1033Trp)
c.3242T>G (p.Leu1081Trp)
c.3239T>G (p.Leu1080Trp)
c.3101T>G (p.Leu1034Trp)
c.2774T>G (p.Leu925Trp)
c.2771T>G (p.Leu924Trp)
c.2870T>G (p.Leu957Trp)
c.*2798T>G (n.*2798T>G)
c.2106+182207T>G (n.2106+182207T>G)
c.520T>G
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.184326914T=CA1425957786EIF2B5,EIF4G1c.3359T= (p.Leu1120=)
c.3293T= (p.Leu1098=)
c.2706T= (n.2706T=)
c.2765T= (p.Leu922=)
c.3362T= (p.Leu1121=)
c.2867T= (p.Leu956=)
c.3380T= (p.Leu1127=)
c.3098T= (p.Leu1033=)
c.3242T= (p.Leu1081=)
c.3239T= (p.Leu1080=)
c.3101T= (p.Leu1034=)
c.2774T= (p.Leu925=)
c.2771T= (p.Leu924=)
c.2870T= (p.Leu957=)
c.*2798T= (n.*2798T=)
c.2106+182207T= (n.2106+182207T=)
c.520T=
3g.184326915G>ACA437162099EIF2B5,EIF4G1c.3360G>A (p.Leu1120=)
c.3294G>A (p.Leu1098=)
c.2707G>A (n.2707G>A)
c.2766G>A (p.Leu922=)
c.3363G>A (p.Leu1121=)
c.2868G>A (p.Leu956=)
c.3381G>A (p.Leu1127=)
c.3099G>A (p.Leu1033=)
c.3243G>A (p.Leu1081=)
c.3240G>A (p.Leu1080=)
c.3102G>A (p.Leu1034=)
c.2775G>A (p.Leu925=)
c.2772G>A (p.Leu924=)
c.2871G>A (p.Leu957=)
c.*2799G>A (n.*2799G>A)
c.2106+182208G>A (n.2106+182208G>A)
c.521G>A
3g.184326915G>CCA355413184EIF2B5,EIF4G1c.3360G>C (p.Leu1120Phe)
c.3294G>C (p.Leu1098Phe)
c.2707G>C (n.2707G>C)
c.2766G>C (p.Leu922Phe)
c.3363G>C (p.Leu1121Phe)
c.2868G>C (p.Leu956Phe)
c.3381G>C (p.Leu1127Phe)
c.3099G>C (p.Leu1033Phe)
c.3243G>C (p.Leu1081Phe)
c.3240G>C (p.Leu1080Phe)
c.3102G>C (p.Leu1034Phe)
c.2775G>C (p.Leu925Phe)
c.2772G>C (p.Leu924Phe)
c.2871G>C (p.Leu957Phe)
c.*2799G>C (n.*2799G>C)
c.2106+182208G>C (n.2106+182208G>C)
c.521G>C
3g.184326915G>TCA355413187EIF2B5,EIF4G1c.3360G>T (p.Leu1120Phe)
c.3294G>T (p.Leu1098Phe)
c.2707G>T (n.2707G>T)
c.2766G>T (p.Leu922Phe)
c.3363G>T (p.Leu1121Phe)
c.2868G>T (p.Leu956Phe)
c.3381G>T (p.Leu1127Phe)
c.3099G>T (p.Leu1033Phe)
c.3243G>T (p.Leu1081Phe)
c.3240G>T (p.Leu1080Phe)
c.3102G>T (p.Leu1034Phe)
c.2775G>T (p.Leu925Phe)
c.2772G>T (p.Leu924Phe)
c.2871G>T (p.Leu957Phe)
c.*2799G>T (n.*2799G>T)
c.2106+182208G>T (n.2106+182208G>T)
c.521G>T
3g.184326916A>CCA355413191EIF2B5,EIF4G1c.3361A>C (p.Asn1121His)
c.3295A>C (p.Asn1099His)
c.2708A>C (n.2708A>C)
c.2767A>C (p.Asn923His)
c.3364A>C (p.Asn1122His)
c.2869A>C (p.Asn957His)
c.3382A>C (p.Asn1128His)
c.3100A>C (p.Asn1034His)
c.3244A>C (p.Asn1082His)
c.3241A>C (p.Asn1081His)
c.3103A>C (p.Asn1035His)
c.2776A>C (p.Asn926His)
c.2773A>C (p.Asn925His)
c.2872A>C (p.Asn958His)
c.*2800A>C (n.*2800A>C)
c.2106+182209A>C (n.2106+182209A>C)
c.522A>C
3g.184326916A>GCA355413192EIF2B5,EIF4G1c.3361A>G (p.Asn1121Asp)
c.3295A>G (p.Asn1099Asp)
c.2708A>G (n.2708A>G)
c.2767A>G (p.Asn923Asp)
c.3364A>G (p.Asn1122Asp)
c.2869A>G (p.Asn957Asp)
c.3382A>G (p.Asn1128Asp)
c.3100A>G (p.Asn1034Asp)
c.3244A>G (p.Asn1082Asp)
c.3241A>G (p.Asn1081Asp)
c.3103A>G (p.Asn1035Asp)
c.2776A>G (p.Asn926Asp)
c.2773A>G (p.Asn925Asp)
c.2872A>G (p.Asn958Asp)
c.*2800A>G (n.*2800A>G)
c.2106+182209A>G (n.2106+182209A>G)
c.522A>G
3g.184326916A>TCA355413193EIF2B5,EIF4G1c.3361A>T (p.Asn1121Tyr)
c.3295A>T (p.Asn1099Tyr)
c.2708A>T (n.2708A>T)
c.2767A>T (p.Asn923Tyr)
c.3364A>T (p.Asn1122Tyr)
c.2869A>T (p.Asn957Tyr)
c.3382A>T (p.Asn1128Tyr)
c.3100A>T (p.Asn1034Tyr)
c.3244A>T (p.Asn1082Tyr)
c.3241A>T (p.Asn1081Tyr)
c.3103A>T (p.Asn1035Tyr)
c.2776A>T (p.Asn926Tyr)
c.2773A>T (p.Asn925Tyr)
c.2872A>T (p.Asn958Tyr)
c.*2800A>T (n.*2800A>T)
c.2106+182209A>T (n.2106+182209A>T)
c.522A>T
3g.184326917A>CCA355413196EIF2B5,EIF4G1c.3362A>C (p.Asn1121Thr)
c.3296A>C (p.Asn1099Thr)
c.2709A>C (n.2709A>C)
c.2768A>C (p.Asn923Thr)
c.3365A>C (p.Asn1122Thr)
c.2870A>C (p.Asn957Thr)
c.3383A>C (p.Asn1128Thr)
c.3101A>C (p.Asn1034Thr)
c.3245A>C (p.Asn1082Thr)
c.3242A>C (p.Asn1081Thr)
c.3104A>C (p.Asn1035Thr)
c.2777A>C (p.Asn926Thr)
c.2774A>C (p.Asn925Thr)
c.2873A>C (p.Asn958Thr)
c.*2801A>C (n.*2801A>C)
c.2106+182210A>C (n.2106+182210A>C)
c.523A>C
3g.184326917A>GCA355413198EIF2B5,EIF4G1c.3362A>G (p.Asn1121Ser)
c.3296A>G (p.Asn1099Ser)
c.2709A>G (n.2709A>G)
c.2768A>G (p.Asn923Ser)
c.3365A>G (p.Asn1122Ser)
c.2870A>G (p.Asn957Ser)
c.3383A>G (p.Asn1128Ser)
c.3101A>G (p.Asn1034Ser)
c.3245A>G (p.Asn1082Ser)
c.3242A>G (p.Asn1081Ser)
c.3104A>G (p.Asn1035Ser)
c.2777A>G (p.Asn926Ser)
c.2774A>G (p.Asn925Ser)
c.2873A>G (p.Asn958Ser)
c.*2801A>G (n.*2801A>G)
c.2106+182210A>G (n.2106+182210A>G)
c.523A>G
3g.184326917A>TCA355413201EIF2B5,EIF4G1c.3362A>T (p.Asn1121Ile)
c.3296A>T (p.Asn1099Ile)
c.2709A>T (n.2709A>T)
c.2768A>T (p.Asn923Ile)
c.3365A>T (p.Asn1122Ile)
c.2870A>T (p.Asn957Ile)
c.3383A>T (p.Asn1128Ile)
c.3101A>T (p.Asn1034Ile)
c.3245A>T (p.Asn1082Ile)
c.3242A>T (p.Asn1081Ile)
c.3104A>T (p.Asn1035Ile)
c.2777A>T (p.Asn926Ile)
c.2774A>T (p.Asn925Ile)
c.2873A>T (p.Asn958Ile)
c.*2801A>T (n.*2801A>T)
c.2106+182210A>T (n.2106+182210A>T)
c.523A>T
3g.184326918T>ACA355413205EIF2B5,EIF4G1c.3363T>A (p.Asn1121Lys)
c.3297T>A (p.Asn1099Lys)
c.2710T>A (n.2710T>A)
c.2769T>A (p.Asn923Lys)
c.3366T>A (p.Asn1122Lys)
c.2871T>A (p.Asn957Lys)
c.3384T>A (p.Asn1128Lys)
c.3102T>A (p.Asn1034Lys)
c.3246T>A (p.Asn1082Lys)
c.3243T>A (p.Asn1081Lys)
c.3105T>A (p.Asn1035Lys)
c.2778T>A (p.Asn926Lys)
c.2775T>A (p.Asn925Lys)
c.2874T>A (p.Asn958Lys)
c.*2802T>A (n.*2802T>A)
c.2106+182211T>A (n.2106+182211T>A)
c.524T>A
3g.184326918T>CCA437162100EIF2B5,EIF4G1c.3363T>C (p.Asn1121=)
c.3297T>C (p.Asn1099=)
c.2710T>C (n.2710T>C)
c.2769T>C (p.Asn923=)
c.3366T>C (p.Asn1122=)
c.2871T>C (p.Asn957=)
c.3384T>C (p.Asn1128=)
c.3102T>C (p.Asn1034=)
c.3246T>C (p.Asn1082=)
c.3243T>C (p.Asn1081=)
c.3105T>C (p.Asn1035=)
c.2778T>C (p.Asn926=)
c.2775T>C (p.Asn925=)
c.2874T>C (p.Asn958=)
c.*2802T>C (n.*2802T>C)
c.2106+182211T>C (n.2106+182211T>C)
c.524T>C
3g.184326918T>GCA355413208EIF2B5,EIF4G1c.3363T>G (p.Asn1121Lys)
c.3297T>G (p.Asn1099Lys)
c.2710T>G (n.2710T>G)
c.2769T>G (p.Asn923Lys)
c.3366T>G (p.Asn1122Lys)
c.2871T>G (p.Asn957Lys)
c.3384T>G (p.Asn1128Lys)
c.3102T>G (p.Asn1034Lys)
c.3246T>G (p.Asn1082Lys)
c.3243T>G (p.Asn1081Lys)
c.3105T>G (p.Asn1035Lys)
c.2778T>G (p.Asn926Lys)
c.2775T>G (p.Asn925Lys)
c.2874T>G (p.Asn958Lys)
c.*2802T>G (n.*2802T>G)
c.2106+182211T>G (n.2106+182211T>G)
c.524T>G
3g.184326919C>ACA355413214EIF2B5,EIF4G1c.3364C>A (p.Arg1122Ser)
c.3298C>A (p.Arg1100Ser)
c.2711C>A (n.2711C>A)
c.2770C>A (p.Arg924Ser)
c.3367C>A (p.Arg1123Ser)
c.2872C>A (p.Arg958Ser)
c.3385C>A (p.Arg1129Ser)
c.3103C>A (p.Arg1035Ser)
c.3247C>A (p.Arg1083Ser)
c.3244C>A (p.Arg1082Ser)
c.3106C>A (p.Arg1036Ser)
c.2779C>A (p.Arg927Ser)
c.2776C>A (p.Arg926Ser)
c.2875C>A (p.Arg959Ser)
c.*2803C>A (n.*2803C>A)
c.2106+182212C>A (n.2106+182212C>A)
c.525C>A
3g.184326919C=CA1425957789EIF2B5,EIF4G1c.3364C= (p.Arg1122=)
c.3298C= (p.Arg1100=)
c.2711C= (n.2711C=)
c.2770C= (p.Arg924=)
c.3367C= (p.Arg1123=)
c.2872C= (p.Arg958=)
c.3385C= (p.Arg1129=)
c.3103C= (p.Arg1035=)
c.3247C= (p.Arg1083=)
c.3244C= (p.Arg1082=)
c.3106C= (p.Arg1036=)
c.2779C= (p.Arg927=)
c.2776C= (p.Arg926=)
c.2875C= (p.Arg959=)
c.*2803C= (n.*2803C=)
c.2106+182212C= (n.2106+182212C=)
c.525C=
3g.184326919C>GCA355413216EIF2B5,EIF4G1c.3364C>G (p.Arg1122Gly)
c.3298C>G (p.Arg1100Gly)
c.2711C>G (n.2711C>G)
c.2770C>G (p.Arg924Gly)
c.3367C>G (p.Arg1123Gly)
c.2872C>G (p.Arg958Gly)
c.3385C>G (p.Arg1129Gly)
c.3103C>G (p.Arg1035Gly)
c.3247C>G (p.Arg1083Gly)
c.3244C>G (p.Arg1082Gly)
c.3106C>G (p.Arg1036Gly)
c.2779C>G (p.Arg927Gly)
c.2776C>G (p.Arg926Gly)
c.2875C>G (p.Arg959Gly)
c.*2803C>G (n.*2803C>G)
c.2106+182212C>G (n.2106+182212C>G)
c.525C>G
3g.184326919C>TCA355413219EIF2B5,EIF4G1c.3364C>T (p.Arg1122Cys)
c.3298C>T (p.Arg1100Cys)
c.2711C>T (n.2711C>T)
c.2770C>T (p.Arg924Cys)
c.3367C>T (p.Arg1123Cys)
c.2872C>T (p.Arg958Cys)
c.3385C>T (p.Arg1129Cys)
c.3103C>T (p.Arg1035Cys)
c.3247C>T (p.Arg1083Cys)
c.3244C>T (p.Arg1082Cys)
c.3106C>T (p.Arg1036Cys)
c.2779C>T (p.Arg927Cys)
c.2776C>T (p.Arg926Cys)
c.2875C>T (p.Arg959Cys)
c.*2803C>T (n.*2803C>T)
c.2106+182212C>T (n.2106+182212C>T)
c.525C>T
 dbSNP gnomAD v3 gnomAD v4
3g.184326920G>ACA355413226EIF2B5,EIF4G1c.3365G>A (p.Arg1122His)
c.3299G>A (p.Arg1100His)
c.2712G>A (n.2712G>A)
c.2771G>A (p.Arg924His)
c.3368G>A (p.Arg1123His)
c.2873G>A (p.Arg958His)
c.3386G>A (p.Arg1129His)
c.3104G>A (p.Arg1035His)
c.3248G>A (p.Arg1083His)
c.3245G>A (p.Arg1082His)
c.3107G>A (p.Arg1036His)
c.2780G>A (p.Arg927His)
c.2777G>A (p.Arg926His)
c.2876G>A (p.Arg959His)
c.*2804G>A (n.*2804G>A)
c.2106+182213G>A (n.2106+182213G>A)
c.526G>A
 gnomAD v4
3g.184326920G>CCA355413227EIF2B5,EIF4G1c.3365G>C (p.Arg1122Pro)
c.3299G>C (p.Arg1100Pro)
c.2712G>C (n.2712G>C)
c.2771G>C (p.Arg924Pro)
c.3368G>C (p.Arg1123Pro)
c.2873G>C (p.Arg958Pro)
c.3386G>C (p.Arg1129Pro)
c.3104G>C (p.Arg1035Pro)
c.3248G>C (p.Arg1083Pro)
c.3245G>C (p.Arg1082Pro)
c.3107G>C (p.Arg1036Pro)
c.2780G>C (p.Arg927Pro)
c.2777G>C (p.Arg926Pro)
c.2876G>C (p.Arg959Pro)
c.*2804G>C (n.*2804G>C)
c.2106+182213G>C (n.2106+182213G>C)
c.526G>C
3g.184326920G>TCA355413223EIF2B5,EIF4G1c.3365G>T (p.Arg1122Leu)
c.3299G>T (p.Arg1100Leu)
c.2712G>T (n.2712G>T)
c.2771G>T (p.Arg924Leu)
c.3368G>T (p.Arg1123Leu)
c.2873G>T (p.Arg958Leu)
c.3386G>T (p.Arg1129Leu)
c.3104G>T (p.Arg1035Leu)
c.3248G>T (p.Arg1083Leu)
c.3245G>T (p.Arg1082Leu)
c.3107G>T (p.Arg1036Leu)
c.2780G>T (p.Arg927Leu)
c.2777G>T (p.Arg926Leu)
c.2876G>T (p.Arg959Leu)
c.*2804G>T (n.*2804G>T)
c.2106+182213G>T (n.2106+182213G>T)
c.526G>T
3g.184326921C>ACA437162101EIF2B5,EIF4G1c.3366C>A (p.Arg1122=)
c.3300C>A (p.Arg1100=)
c.2713C>A (n.2713C>A)
c.2772C>A (p.Arg924=)
c.3369C>A (p.Arg1123=)
c.2874C>A (p.Arg958=)
c.3387C>A (p.Arg1129=)
c.3105C>A (p.Arg1035=)
c.3249C>A (p.Arg1083=)
c.3246C>A (p.Arg1082=)
c.3108C>A (p.Arg1036=)
c.2781C>A (p.Arg927=)
c.2778C>A (p.Arg926=)
c.2877C>A (p.Arg959=)
c.*2805C>A (n.*2805C>A)
c.2106+182214C>A (n.2106+182214C>A)
c.527C>A
3g.184326921C>GCA437162102EIF2B5,EIF4G1c.3366C>G (p.Arg1122=)
c.3300C>G (p.Arg1100=)
c.2713C>G (n.2713C>G)
c.2772C>G (p.Arg924=)
c.3369C>G (p.Arg1123=)
c.2874C>G (p.Arg958=)
c.3387C>G (p.Arg1129=)
c.3105C>G (p.Arg1035=)
c.3249C>G (p.Arg1083=)
c.3246C>G (p.Arg1082=)
c.3108C>G (p.Arg1036=)
c.2781C>G (p.Arg927=)
c.2778C>G (p.Arg926=)
c.2877C>G (p.Arg959=)
c.*2805C>G (n.*2805C>G)
c.2106+182214C>G (n.2106+182214C>G)
c.527C>G
3g.184326921C>TCA437162103EIF2B5,EIF4G1c.3366C>T (p.Arg1122=)
c.3300C>T (p.Arg1100=)
c.2713C>T (n.2713C>T)
c.2772C>T (p.Arg924=)
c.3369C>T (p.Arg1123=)
c.2874C>T (p.Arg958=)
c.3387C>T (p.Arg1129=)
c.3105C>T (p.Arg1035=)
c.3249C>T (p.Arg1083=)
c.3246C>T (p.Arg1082=)
c.3108C>T (p.Arg1036=)
c.2781C>T (p.Arg927=)
c.2778C>T (p.Arg926=)
c.2877C>T (p.Arg959=)
c.*2805C>T (n.*2805C>T)
c.2106+182214C>T (n.2106+182214C>T)
c.527C>T
3g.184326922T>ACA355413236EIF2B5,EIF4G1c.3367T>A (p.Phe1123Ile)
c.3301T>A (p.Phe1101Ile)
c.2714T>A (n.2714T>A)
c.2773T>A (p.Phe925Ile)
c.3370T>A (p.Phe1124Ile)
c.2875T>A (p.Phe959Ile)
c.3388T>A (p.Phe1130Ile)
c.3106T>A (p.Phe1036Ile)
c.3250T>A (p.Phe1084Ile)
c.3247T>A (p.Phe1083Ile)
c.3109T>A (p.Phe1037Ile)
c.2782T>A (p.Phe928Ile)
c.2779T>A (p.Phe927Ile)
c.2878T>A (p.Phe960Ile)
c.*2806T>A (n.*2806T>A)
c.2106+182215T>A (n.2106+182215T>A)
c.528T>A
3g.184326922T>CCA355413230EIF2B5,EIF4G1c.3367T>C (p.Phe1123Leu)
c.3301T>C (p.Phe1101Leu)
c.2714T>C (n.2714T>C)
c.2773T>C (p.Phe925Leu)
c.3370T>C (p.Phe1124Leu)
c.2875T>C (p.Phe959Leu)
c.3388T>C (p.Phe1130Leu)
c.3106T>C (p.Phe1036Leu)
c.3250T>C (p.Phe1084Leu)
c.3247T>C (p.Phe1083Leu)
c.3109T>C (p.Phe1037Leu)
c.2782T>C (p.Phe928Leu)
c.2779T>C (p.Phe927Leu)
c.2878T>C (p.Phe960Leu)
c.*2806T>C (n.*2806T>C)
c.2106+182215T>C (n.2106+182215T>C)
c.528T>C
 gnomAD v4
3g.184326922T>GCA355413238EIF2B5,EIF4G1c.3367T>G (p.Phe1123Val)
c.3301T>G (p.Phe1101Val)
c.2714T>G (n.2714T>G)
c.2773T>G (p.Phe925Val)
c.3370T>G (p.Phe1124Val)
c.2875T>G (p.Phe959Val)
c.3388T>G (p.Phe1130Val)
c.3106T>G (p.Phe1036Val)
c.3250T>G (p.Phe1084Val)
c.3247T>G (p.Phe1083Val)
c.3109T>G (p.Phe1037Val)
c.2782T>G (p.Phe928Val)
c.2779T>G (p.Phe927Val)
c.2878T>G (p.Phe960Val)
c.*2806T>G (n.*2806T>G)
c.2106+182215T>G (n.2106+182215T>G)
c.528T>G
3g.184326923T>ACA355413244EIF2B5,EIF4G1c.3368T>A (p.Phe1123Tyr)
c.3302T>A (p.Phe1101Tyr)
c.2715T>A (n.2715T>A)
c.2774T>A (p.Phe925Tyr)
c.3371T>A (p.Phe1124Tyr)
c.2876T>A (p.Phe959Tyr)
c.3389T>A (p.Phe1130Tyr)
c.3107T>A (p.Phe1036Tyr)
c.3251T>A (p.Phe1084Tyr)
c.3248T>A (p.Phe1083Tyr)
c.3110T>A (p.Phe1037Tyr)
c.2783T>A (p.Phe928Tyr)
c.2780T>A (p.Phe927Tyr)
c.2879T>A (p.Phe960Tyr)
c.*2807T>A (n.*2807T>A)
c.2106+182216T>A (n.2106+182216T>A)
c.529T>A
3g.184326923T>CCA355413247EIF2B5,EIF4G1c.3368T>C (p.Phe1123Ser)
c.3302T>C (p.Phe1101Ser)
c.2715T>C (n.2715T>C)
c.2774T>C (p.Phe925Ser)
c.3371T>C (p.Phe1124Ser)
c.2876T>C (p.Phe959Ser)
c.3389T>C (p.Phe1130Ser)
c.3107T>C (p.Phe1036Ser)
c.3251T>C (p.Phe1084Ser)
c.3248T>C (p.Phe1083Ser)
c.3110T>C (p.Phe1037Ser)
c.2783T>C (p.Phe928Ser)
c.2780T>C (p.Phe927Ser)
c.2879T>C (p.Phe960Ser)
c.*2807T>C (n.*2807T>C)
c.2106+182216T>C (n.2106+182216T>C)
c.529T>C
3g.184326923T>GCA355413250EIF2B5,EIF4G1c.3368T>G (p.Phe1123Cys)
c.3302T>G (p.Phe1101Cys)
c.2715T>G (n.2715T>G)
c.2774T>G (p.Phe925Cys)
c.3371T>G (p.Phe1124Cys)
c.2876T>G (p.Phe959Cys)
c.3389T>G (p.Phe1130Cys)
c.3107T>G (p.Phe1036Cys)
c.3251T>G (p.Phe1084Cys)
c.3248T>G (p.Phe1083Cys)
c.3110T>G (p.Phe1037Cys)
c.2783T>G (p.Phe928Cys)
c.2780T>G (p.Phe927Cys)
c.2879T>G (p.Phe960Cys)
c.*2807T>G (n.*2807T>G)
c.2106+182216T>G (n.2106+182216T>G)
c.529T>G
3g.184326924C>ACA355413254EIF2B5,EIF4G1c.3369C>A (p.Phe1123Leu)
c.3303C>A (p.Phe1101Leu)
c.2716C>A (n.2716C>A)
c.2775C>A (p.Phe925Leu)
c.3372C>A (p.Phe1124Leu)
c.2877C>A (p.Phe959Leu)
c.3390C>A (p.Phe1130Leu)
c.3108C>A (p.Phe1036Leu)
c.3252C>A (p.Phe1084Leu)
c.3249C>A (p.Phe1083Leu)
c.3111C>A (p.Phe1037Leu)
c.2784C>A (p.Phe928Leu)
c.2781C>A (p.Phe927Leu)
c.2880C>A (p.Phe960Leu)
c.*2808C>A (n.*2808C>A)
c.2106+182217C>A (n.2106+182217C>A)
c.530C>A
3g.184326924C>GCA355413256EIF2B5,EIF4G1c.3369C>G (p.Phe1123Leu)
c.3303C>G (p.Phe1101Leu)
c.2716C>G (n.2716C>G)
c.2775C>G (p.Phe925Leu)
c.3372C>G (p.Phe1124Leu)
c.2877C>G (p.Phe959Leu)
c.3390C>G (p.Phe1130Leu)
c.3108C>G (p.Phe1036Leu)
c.3252C>G (p.Phe1084Leu)
c.3249C>G (p.Phe1083Leu)
c.3111C>G (p.Phe1037Leu)
c.2784C>G (p.Phe928Leu)
c.2781C>G (p.Phe927Leu)
c.2880C>G (p.Phe960Leu)
c.*2808C>G (n.*2808C>G)
c.2106+182217C>G (n.2106+182217C>G)
c.530C>G
3g.184326924C>TCA437162104EIF2B5,EIF4G1c.3369C>T (p.Phe1123=)
c.3303C>T (p.Phe1101=)
c.2716C>T (n.2716C>T)
c.2775C>T (p.Phe925=)
c.3372C>T (p.Phe1124=)
c.2877C>T (p.Phe959=)
c.3390C>T (p.Phe1130=)
c.3108C>T (p.Phe1036=)
c.3252C>T (p.Phe1084=)
c.3249C>T (p.Phe1083=)
c.3111C>T (p.Phe1037=)
c.2784C>T (p.Phe928=)
c.2781C>T (p.Phe927=)
c.2880C>T (p.Phe960=)
c.*2808C>T (n.*2808C>T)
c.2106+182217C>T (n.2106+182217C>T)
c.530C>T
3g.184326925T>ACA355413261EIF2B5,EIF4G1c.3370T>A (p.Ser1124Thr)
c.3304T>A (p.Ser1102Thr)
c.2717T>A (n.2717T>A)
c.2776T>A (p.Ser926Thr)
c.3373T>A (p.Ser1125Thr)
c.2878T>A (p.Ser960Thr)
c.3391T>A (p.Ser1131Thr)
c.3109T>A (p.Ser1037Thr)
c.3253T>A (p.Ser1085Thr)
c.3250T>A (p.Ser1084Thr)
c.3112T>A (p.Ser1038Thr)
c.2785T>A (p.Ser929Thr)
c.2782T>A (p.Ser928Thr)
c.2881T>A (p.Ser961Thr)
c.*2809T>A (n.*2809T>A)
c.2106+182218T>A (n.2106+182218T>A)
c.531T>A
3g.184326925T>CCA355413262EIF2B5,EIF4G1c.3370T>C (p.Ser1124Pro)
c.3304T>C (p.Ser1102Pro)
c.2717T>C (n.2717T>C)
c.2776T>C (p.Ser926Pro)
c.3373T>C (p.Ser1125Pro)
c.2878T>C (p.Ser960Pro)
c.3391T>C (p.Ser1131Pro)
c.3109T>C (p.Ser1037Pro)
c.3253T>C (p.Ser1085Pro)
c.3250T>C (p.Ser1084Pro)
c.3112T>C (p.Ser1038Pro)
c.2785T>C (p.Ser929Pro)
c.2782T>C (p.Ser928Pro)
c.2881T>C (p.Ser961Pro)
c.*2809T>C (n.*2809T>C)
c.2106+182218T>C (n.2106+182218T>C)
c.531T>C
3g.184326925T>GCA355413265EIF2B5,EIF4G1c.3370T>G (p.Ser1124Ala)
c.3304T>G (p.Ser1102Ala)
c.2717T>G (n.2717T>G)
c.2776T>G (p.Ser926Ala)
c.3373T>G (p.Ser1125Ala)
c.2878T>G (p.Ser960Ala)
c.3391T>G (p.Ser1131Ala)
c.3109T>G (p.Ser1037Ala)
c.3253T>G (p.Ser1085Ala)
c.3250T>G (p.Ser1084Ala)
c.3112T>G (p.Ser1038Ala)
c.2785T>G (p.Ser929Ala)
c.2782T>G (p.Ser928Ala)
c.2881T>G (p.Ser961Ala)
c.*2809T>G (n.*2809T>G)
c.2106+182218T>G (n.2106+182218T>G)
c.531T>G
3g.184326926C>ACA355413270EIF2B5,EIF4G1c.3371C>A (p.Ser1124Ter)
c.3305C>A (p.Ser1102Ter)
c.2718C>A (n.2718C>A)
c.2777C>A (p.Ser926Ter)
c.3374C>A (p.Ser1125Ter)
c.2879C>A (p.Ser960Ter)
c.3392C>A (p.Ser1131Ter)
c.3110C>A (p.Ser1037Ter)
c.3254C>A (p.Ser1085Ter)
c.3251C>A (p.Ser1084Ter)
c.3113C>A (p.Ser1038Ter)
c.2786C>A (p.Ser929Ter)
c.2783C>A (p.Ser928Ter)
c.2882C>A (p.Ser961Ter)
c.*2810C>A (n.*2810C>A)
c.2106+182219C>A (n.2106+182219C>A)
c.532C>A
3g.184326926C=CA1425957791EIF2B5,EIF4G1c.3371C= (p.Ser1124=)
c.3305C= (p.Ser1102=)
c.2718C= (n.2718C=)
c.2777C= (p.Ser926=)
c.3374C= (p.Ser1125=)
c.2879C= (p.Ser960=)
c.3392C= (p.Ser1131=)
c.3110C= (p.Ser1037=)
c.3254C= (p.Ser1085=)
c.3251C= (p.Ser1084=)
c.3113C= (p.Ser1038=)
c.2786C= (p.Ser929=)
c.2783C= (p.Ser928=)
c.2882C= (p.Ser961=)
c.*2810C= (n.*2810C=)
c.2106+182219C= (n.2106+182219C=)
c.532C=
3g.184326926C>GCA355413273EIF2B5,EIF4G1c.3371C>G (p.Ser1124Ter)
c.3305C>G (p.Ser1102Ter)
c.2718C>G (n.2718C>G)
c.2777C>G (p.Ser926Ter)
c.3374C>G (p.Ser1125Ter)
c.2879C>G (p.Ser960Ter)
c.3392C>G (p.Ser1131Ter)
c.3110C>G (p.Ser1037Ter)
c.3254C>G (p.Ser1085Ter)
c.3251C>G (p.Ser1084Ter)
c.3113C>G (p.Ser1038Ter)
c.2786C>G (p.Ser929Ter)
c.2783C>G (p.Ser928Ter)
c.2882C>G (p.Ser961Ter)
c.*2810C>G (n.*2810C>G)
c.2106+182219C>G (n.2106+182219C>G)
c.532C>G
 COSMIC
3g.184326926C>TCA355413274EIF2B5,EIF4G1c.3371C>T (p.Ser1124Leu)
c.3305C>T (p.Ser1102Leu)
c.2718C>T (n.2718C>T)
c.2777C>T (p.Ser926Leu)
c.3374C>T (p.Ser1125Leu)
c.2879C>T (p.Ser960Leu)
c.3392C>T (p.Ser1131Leu)
c.3110C>T (p.Ser1037Leu)
c.3254C>T (p.Ser1085Leu)
c.3251C>T (p.Ser1084Leu)
c.3113C>T (p.Ser1038Leu)
c.2786C>T (p.Ser929Leu)
c.2783C>T (p.Ser928Leu)
c.2882C>T (p.Ser961Leu)
c.*2810C>T (n.*2810C>T)
c.2106+182219C>T (n.2106+182219C>T)
c.532C>T
 dbSNP gnomAD v3 gnomAD v4
3g.184326927A>CCA437162105EIF2B5,EIF4G1c.3372A>C (p.Ser1124=)
c.3306A>C (p.Ser1102=)
c.2719A>C (n.2719A>C)
c.2778A>C (p.Ser926=)
c.3375A>C (p.Ser1125=)
c.2880A>C (p.Ser960=)
c.3393A>C (p.Ser1131=)
c.3111A>C (p.Ser1037=)
c.3255A>C (p.Ser1085=)
c.3252A>C (p.Ser1084=)
c.3114A>C (p.Ser1038=)
c.2787A>C (p.Ser929=)
c.2784A>C (p.Ser928=)
c.2883A>C (p.Ser961=)
c.*2811A>C (n.*2811A>C)
c.2106+182220A>C (n.2106+182220A>C)
c.533A>C
 gnomAD v4
3g.184326927A>GCA437162106EIF2B5,EIF4G1c.3372A>G (p.Ser1124=)
c.3306A>G (p.Ser1102=)
c.2719A>G (n.2719A>G)
c.2778A>G (p.Ser926=)
c.3375A>G (p.Ser1125=)
c.2880A>G (p.Ser960=)
c.3393A>G (p.Ser1131=)
c.3111A>G (p.Ser1037=)
c.3255A>G (p.Ser1085=)
c.3252A>G (p.Ser1084=)
c.3114A>G (p.Ser1038=)
c.2787A>G (p.Ser929=)
c.2784A>G (p.Ser928=)
c.2883A>G (p.Ser961=)
c.*2811A>G (n.*2811A>G)
c.2106+182220A>G (n.2106+182220A>G)
c.533A>G
3g.184326927A>TCA437162107EIF2B5,EIF4G1c.3372A>T (p.Ser1124=)
c.3306A>T (p.Ser1102=)
c.2719A>T (n.2719A>T)
c.2778A>T (p.Ser926=)
c.3375A>T (p.Ser1125=)
c.2880A>T (p.Ser960=)
c.3393A>T (p.Ser1131=)
c.3111A>T (p.Ser1037=)
c.3255A>T (p.Ser1085=)
c.3252A>T (p.Ser1084=)
c.3114A>T (p.Ser1038=)
c.2787A>T (p.Ser929=)
c.2784A>T (p.Ser928=)
c.2883A>T (p.Ser961=)
c.*2811A>T (n.*2811A>T)
c.2106+182220A>T (n.2106+182220A>T)
c.533A>T
3g.184326928G>ACA355413277EIF2B5,EIF4G1c.3373G>A (p.Ala1125Thr)
c.3307G>A (p.Ala1103Thr)
c.2720G>A (n.2720G>A)
c.2779G>A (p.Ala927Thr)
c.3376G>A (p.Ala1126Thr)
c.2881G>A (p.Ala961Thr)
c.3394G>A (p.Ala1132Thr)
c.3112G>A (p.Ala1038Thr)
c.3256G>A (p.Ala1086Thr)
c.3253G>A (p.Ala1085Thr)
c.3115G>A (p.Ala1039Thr)
c.2788G>A (p.Ala930Thr)
c.2785G>A (p.Ala929Thr)
c.2884G>A (p.Ala962Thr)
c.*2812G>A (n.*2812G>A)
c.2106+182221G>A (n.2106+182221G>A)
c.534G>A
3g.184326928G>CCA355413276EIF2B5,EIF4G1c.3373G>C (p.Ala1125Pro)
c.3307G>C (p.Ala1103Pro)
c.2720G>C (n.2720G>C)
c.2779G>C (p.Ala927Pro)
c.3376G>C (p.Ala1126Pro)
c.2881G>C (p.Ala961Pro)
c.3394G>C (p.Ala1132Pro)
c.3112G>C (p.Ala1038Pro)
c.3256G>C (p.Ala1086Pro)
c.3253G>C (p.Ala1085Pro)
c.3115G>C (p.Ala1039Pro)
c.2788G>C (p.Ala930Pro)
c.2785G>C (p.Ala929Pro)
c.2884G>C (p.Ala962Pro)
c.*2812G>C (n.*2812G>C)
c.2106+182221G>C (n.2106+182221G>C)
c.534G>C
3g.184326928G>TCA355413275EIF2B5,EIF4G1c.3373G>T (p.Ala1125Ser)
c.3307G>T (p.Ala1103Ser)
c.2720G>T (n.2720G>T)
c.2779G>T (p.Ala927Ser)
c.3376G>T (p.Ala1126Ser)
c.2881G>T (p.Ala961Ser)
c.3394G>T (p.Ala1132Ser)
c.3112G>T (p.Ala1038Ser)
c.3256G>T (p.Ala1086Ser)
c.3253G>T (p.Ala1085Ser)
c.3115G>T (p.Ala1039Ser)
c.2788G>T (p.Ala930Ser)
c.2785G>T (p.Ala929Ser)
c.2884G>T (p.Ala962Ser)
c.*2812G>T (n.*2812G>T)
c.2106+182221G>T (n.2106+182221G>T)
c.534G>T
 COSMIC
3g.184326929C>ACA355413279EIF2B5,EIF4G1c.3374C>A (p.Ala1125Asp)
c.3308C>A (p.Ala1103Asp)
c.2721C>A (n.2721C>A)
c.2780C>A (p.Ala927Asp)
c.3377C>A (p.Ala1126Asp)
c.2882C>A (p.Ala961Asp)
c.3395C>A (p.Ala1132Asp)
c.3113C>A (p.Ala1038Asp)
c.3257C>A (p.Ala1086Asp)
c.3254C>A (p.Ala1085Asp)
c.3116C>A (p.Ala1039Asp)
c.2789C>A (p.Ala930Asp)
c.2786C>A (p.Ala929Asp)
c.2885C>A (p.Ala962Asp)
c.*2813C>A (n.*2813C>A)
c.2106+182222C>A (n.2106+182222C>A)
c.535C>A
3g.184326929C>GCA355413281EIF2B5,EIF4G1c.3374C>G (p.Ala1125Gly)
c.3308C>G (p.Ala1103Gly)
c.2721C>G (n.2721C>G)
c.2780C>G (p.Ala927Gly)
c.3377C>G (p.Ala1126Gly)
c.2882C>G (p.Ala961Gly)
c.3395C>G (p.Ala1132Gly)
c.3113C>G (p.Ala1038Gly)
c.3257C>G (p.Ala1086Gly)
c.3254C>G (p.Ala1085Gly)
c.3116C>G (p.Ala1039Gly)
c.2789C>G (p.Ala930Gly)
c.2786C>G (p.Ala929Gly)
c.2885C>G (p.Ala962Gly)
c.*2813C>G (n.*2813C>G)
c.2106+182222C>G (n.2106+182222C>G)
c.535C>G
3g.184326929C>TCA355413283EIF2B5,EIF4G1c.3374C>T (p.Ala1125Val)
c.3308C>T (p.Ala1103Val)
c.2721C>T (n.2721C>T)
c.2780C>T (p.Ala927Val)
c.3377C>T (p.Ala1126Val)
c.2882C>T (p.Ala961Val)
c.3395C>T (p.Ala1132Val)
c.3113C>T (p.Ala1038Val)
c.3257C>T (p.Ala1086Val)
c.3254C>T (p.Ala1085Val)
c.3116C>T (p.Ala1039Val)
c.2789C>T (p.Ala930Val)
c.2786C>T (p.Ala929Val)
c.2885C>T (p.Ala962Val)
c.*2813C>T (n.*2813C>T)
c.2106+182222C>T (n.2106+182222C>T)
c.535C>T
3g.184326930C>ACA437162109EIF2B5,EIF4G1c.3375C>A (p.Ala1125=)
c.3309C>A (p.Ala1103=)
c.2722C>A (n.2722C>A)
c.2781C>A (p.Ala927=)
c.3378C>A (p.Ala1126=)
c.2883C>A (p.Ala961=)
c.3396C>A (p.Ala1132=)
c.3114C>A (p.Ala1038=)
c.3258C>A (p.Ala1086=)
c.3255C>A (p.Ala1085=)
c.3117C>A (p.Ala1039=)
c.2790C>A (p.Ala930=)
c.2787C>A (p.Ala929=)
c.2886C>A (p.Ala962=)
c.*2814C>A (n.*2814C>A)
c.2106+182223C>A (n.2106+182223C>A)
c.536C>A
3g.184326930C>GCA437162110EIF2B5,EIF4G1c.3375C>G (p.Ala1125=)
c.3309C>G (p.Ala1103=)
c.2722C>G (n.2722C>G)
c.2781C>G (p.Ala927=)
c.3378C>G (p.Ala1126=)
c.2883C>G (p.Ala961=)
c.3396C>G (p.Ala1132=)
c.3114C>G (p.Ala1038=)
c.3258C>G (p.Ala1086=)
c.3255C>G (p.Ala1085=)
c.3117C>G (p.Ala1039=)
c.2790C>G (p.Ala930=)
c.2787C>G (p.Ala929=)
c.2886C>G (p.Ala962=)
c.*2814C>G (n.*2814C>G)
c.2106+182223C>G (n.2106+182223C>G)
c.536C>G
 gnomAD v4
3g.184326930C>TCA437162111EIF2B5,EIF4G1c.3375C>T (p.Ala1125=)
c.3309C>T (p.Ala1103=)
c.2722C>T (n.2722C>T)
c.2781C>T (p.Ala927=)
c.3378C>T (p.Ala1126=)
c.2883C>T (p.Ala961=)
c.3396C>T (p.Ala1132=)
c.3114C>T (p.Ala1038=)
c.3258C>T (p.Ala1086=)
c.3255C>T (p.Ala1085=)
c.3117C>T (p.Ala1039=)
c.2790C>T (p.Ala930=)
c.2787C>T (p.Ala929=)
c.2886C>T (p.Ala962=)
c.*2814C>T (n.*2814C>T)
c.2106+182223C>T (n.2106+182223C>T)
c.536C>T
 gnomAD v4
3g.184326931C>ACA355413288EIF2B5,EIF4G1c.3376C>A (p.Leu1126Ile)
c.3310C>A (p.Leu1104Ile)
c.2723C>A (n.2723C>A)
c.2782C>A (p.Leu928Ile)
c.3379C>A (p.Leu1127Ile)
c.2884C>A (p.Leu962Ile)
c.3397C>A (p.Leu1133Ile)
c.3115C>A (p.Leu1039Ile)
c.3259C>A (p.Leu1087Ile)
c.3256C>A (p.Leu1086Ile)
c.3118C>A (p.Leu1040Ile)
c.2791C>A (p.Leu931Ile)
c.2788C>A (p.Leu930Ile)
c.2887C>A (p.Leu963Ile)
c.*2815C>A (n.*2815C>A)
c.2106+182224C>A (n.2106+182224C>A)
c.537C>A
3g.184326931C>GCA355413291EIF2B5,EIF4G1c.3376C>G (p.Leu1126Val)
c.3310C>G (p.Leu1104Val)
c.2723C>G (n.2723C>G)
c.2782C>G (p.Leu928Val)
c.3379C>G (p.Leu1127Val)
c.2884C>G (p.Leu962Val)
c.3397C>G (p.Leu1133Val)
c.3115C>G (p.Leu1039Val)
c.3259C>G (p.Leu1087Val)
c.3256C>G (p.Leu1086Val)
c.3118C>G (p.Leu1040Val)
c.2791C>G (p.Leu931Val)
c.2788C>G (p.Leu930Val)
c.2887C>G (p.Leu963Val)
c.*2815C>G (n.*2815C>G)
c.2106+182224C>G (n.2106+182224C>G)
c.537C>G
 gnomAD v4
3g.184326931C>TCA355413294EIF2B5,EIF4G1c.3376C>T (p.Leu1126Phe)
c.3310C>T (p.Leu1104Phe)
c.2723C>T (n.2723C>T)
c.2782C>T (p.Leu928Phe)
c.3379C>T (p.Leu1127Phe)
c.2884C>T (p.Leu962Phe)
c.3397C>T (p.Leu1133Phe)
c.3115C>T (p.Leu1039Phe)
c.3259C>T (p.Leu1087Phe)
c.3256C>T (p.Leu1086Phe)
c.3118C>T (p.Leu1040Phe)
c.2791C>T (p.Leu931Phe)
c.2788C>T (p.Leu930Phe)
c.2887C>T (p.Leu963Phe)
c.*2815C>T (n.*2815C>T)
c.2106+182224C>T (n.2106+182224C>T)
c.537C>T
3g.184326932T>ACA355413298EIF2B5,EIF4G1c.3377T>A (p.Leu1126His)
c.3311T>A (p.Leu1104His)
c.2724T>A (n.2724T>A)
c.2783T>A (p.Leu928His)
c.3380T>A (p.Leu1127His)
c.2885T>A (p.Leu962His)
c.3398T>A (p.Leu1133His)
c.3116T>A (p.Leu1039His)
c.3260T>A (p.Leu1087His)
c.3257T>A (p.Leu1086His)
c.3119T>A (p.Leu1040His)
c.2792T>A (p.Leu931His)
c.2789T>A (p.Leu930His)
c.2888T>A (p.Leu963His)
c.*2816T>A (n.*2816T>A)
c.2106+182225T>A (n.2106+182225T>A)
c.538T>A
3g.184326932T>CCA355413300EIF2B5,EIF4G1c.3377T>C (p.Leu1126Pro)
c.3311T>C (p.Leu1104Pro)
c.2724T>C (n.2724T>C)
c.2783T>C (p.Leu928Pro)
c.3380T>C (p.Leu1127Pro)
c.2885T>C (p.Leu962Pro)
c.3398T>C (p.Leu1133Pro)
c.3116T>C (p.Leu1039Pro)
c.3260T>C (p.Leu1087Pro)
c.3257T>C (p.Leu1086Pro)
c.3119T>C (p.Leu1040Pro)
c.2792T>C (p.Leu931Pro)
c.2789T>C (p.Leu930Pro)
c.2888T>C (p.Leu963Pro)
c.*2816T>C (n.*2816T>C)
c.2106+182225T>C (n.2106+182225T>C)
c.538T>C
3g.184326932T>GCA355413303EIF2B5,EIF4G1c.3377T>G (p.Leu1126Arg)
c.3311T>G (p.Leu1104Arg)
c.2724T>G (n.2724T>G)
c.2783T>G (p.Leu928Arg)
c.3380T>G (p.Leu1127Arg)
c.2885T>G (p.Leu962Arg)
c.3398T>G (p.Leu1133Arg)
c.3116T>G (p.Leu1039Arg)
c.3260T>G (p.Leu1087Arg)
c.3257T>G (p.Leu1086Arg)
c.3119T>G (p.Leu1040Arg)
c.2792T>G (p.Leu931Arg)
c.2789T>G (p.Leu930Arg)
c.2888T>G (p.Leu963Arg)
c.*2816T>G (n.*2816T>G)
c.2106+182225T>G (n.2106+182225T>G)
c.538T>G
3g.184326933T>ACA437162112EIF2B5,EIF4G1c.3378T>A (p.Leu1126=)
c.3312T>A (p.Leu1104=)
c.2725T>A (n.2725T>A)
c.2784T>A (p.Leu928=)
c.3381T>A (p.Leu1127=)
c.2886T>A (p.Leu962=)
c.3399T>A (p.Leu1133=)
c.3117T>A (p.Leu1039=)
c.3261T>A (p.Leu1087=)
c.3258T>A (p.Leu1086=)
c.3120T>A (p.Leu1040=)
c.2793T>A (p.Leu931=)
c.2790T>A (p.Leu930=)
c.2889T>A (p.Leu963=)
c.*2817T>A (n.*2817T>A)
c.2106+182226T>A (n.2106+182226T>A)
c.539T>A
3g.184326933T>CCA437162114EIF2B5,EIF4G1c.3378T>C (p.Leu1126=)
c.3312T>C (p.Leu1104=)
c.2725T>C (n.2725T>C)
c.2784T>C (p.Leu928=)
c.3381T>C (p.Leu1127=)
c.2886T>C (p.Leu962=)
c.3399T>C (p.Leu1133=)
c.3117T>C (p.Leu1039=)
c.3261T>C (p.Leu1087=)
c.3258T>C (p.Leu1086=)
c.3120T>C (p.Leu1040=)
c.2793T>C (p.Leu931=)
c.2790T>C (p.Leu930=)
c.2889T>C (p.Leu963=)
c.*2817T>C (n.*2817T>C)
c.2106+182226T>C (n.2106+182226T>C)
c.539T>C
 gnomAD v4
3g.184326933T>GCA437162115EIF2B5,EIF4G1c.3378T>G (p.Leu1126=)
c.3312T>G (p.Leu1104=)
c.2725T>G (n.2725T>G)
c.2784T>G (p.Leu928=)
c.3381T>G (p.Leu1127=)
c.2886T>G (p.Leu962=)
c.3399T>G (p.Leu1133=)
c.3117T>G (p.Leu1039=)
c.3261T>G (p.Leu1087=)
c.3258T>G (p.Leu1086=)
c.3120T>G (p.Leu1040=)
c.2793T>G (p.Leu931=)
c.2790T>G (p.Leu930=)
c.2889T>G (p.Leu963=)
c.*2817T>G (n.*2817T>G)
c.2106+182226T>G (n.2106+182226T>G)
c.539T>G
3g.184326934C>ACA355413309EIF2B5,EIF4G1c.3379C>A (p.Gln1127Lys)
c.3313C>A (p.Gln1105Lys)
c.2726C>A (n.2726C>A)
c.2785C>A (p.Gln929Lys)
c.3382C>A (p.Gln1128Lys)
c.2887C>A (p.Gln963Lys)
c.3400C>A (p.Gln1134Lys)
c.3118C>A (p.Gln1040Lys)
c.3262C>A (p.Gln1088Lys)
c.3259C>A (p.Gln1087Lys)
c.3121C>A (p.Gln1041Lys)
c.2794C>A (p.Gln932Lys)
c.2791C>A (p.Gln931Lys)
c.2890C>A (p.Gln964Lys)
c.*2818C>A (n.*2818C>A)
c.2106+182227C>A (n.2106+182227C>A)
c.540C>A
3g.184326934C>GCA355413313EIF2B5,EIF4G1c.3379C>G (p.Gln1127Glu)
c.3313C>G (p.Gln1105Glu)
c.2726C>G (n.2726C>G)
c.2785C>G (p.Gln929Glu)
c.3382C>G (p.Gln1128Glu)
c.2887C>G (p.Gln963Glu)
c.3400C>G (p.Gln1134Glu)
c.3118C>G (p.Gln1040Glu)
c.3262C>G (p.Gln1088Glu)
c.3259C>G (p.Gln1087Glu)
c.3121C>G (p.Gln1041Glu)
c.2794C>G (p.Gln932Glu)
c.2791C>G (p.Gln931Glu)
c.2890C>G (p.Gln964Glu)
c.*2818C>G (n.*2818C>G)
c.2106+182227C>G (n.2106+182227C>G)
c.540C>G
 gnomAD v4
3g.184326934C>TCA355413316EIF2B5,EIF4G1c.3379C>T (p.Gln1127Ter)
c.3313C>T (p.Gln1105Ter)
c.2726C>T (n.2726C>T)
c.2785C>T (p.Gln929Ter)
c.3382C>T (p.Gln1128Ter)
c.2887C>T (p.Gln963Ter)
c.3400C>T (p.Gln1134Ter)
c.3118C>T (p.Gln1040Ter)
c.3262C>T (p.Gln1088Ter)
c.3259C>T (p.Gln1087Ter)
c.3121C>T (p.Gln1041Ter)
c.2794C>T (p.Gln932Ter)
c.2791C>T (p.Gln931Ter)
c.2890C>T (p.Gln964Ter)
c.*2818C>T (n.*2818C>T)
c.2106+182227C>T (n.2106+182227C>T)
c.540C>T
3g.184326935A>CCA355413325EIF2B5,EIF4G1c.3380A>C (p.Gln1127Pro)
c.3314A>C (p.Gln1105Pro)
c.2727A>C (n.2727A>C)
c.2786A>C (p.Gln929Pro)
c.3383A>C (p.Gln1128Pro)
c.2888A>C (p.Gln963Pro)
c.3401A>C (p.Gln1134Pro)
c.3119A>C (p.Gln1040Pro)
c.3263A>C (p.Gln1088Pro)
c.3260A>C (p.Gln1087Pro)
c.3122A>C (p.Gln1041Pro)
c.2795A>C (p.Gln932Pro)
c.2792A>C (p.Gln931Pro)
c.2891A>C (p.Gln964Pro)
c.*2819A>C (n.*2819A>C)
c.2106+182228A>C (n.2106+182228A>C)
c.541A>C
 gnomAD v4
3g.184326935A>GCA355413326EIF2B5,EIF4G1c.3380A>G (p.Gln1127Arg)
c.3314A>G (p.Gln1105Arg)
c.2727A>G (n.2727A>G)
c.2786A>G (p.Gln929Arg)
c.3383A>G (p.Gln1128Arg)
c.2888A>G (p.Gln963Arg)
c.3401A>G (p.Gln1134Arg)
c.3119A>G (p.Gln1040Arg)
c.3263A>G (p.Gln1088Arg)
c.3260A>G (p.Gln1087Arg)
c.3122A>G (p.Gln1041Arg)
c.2795A>G (p.Gln932Arg)
c.2792A>G (p.Gln931Arg)
c.2891A>G (p.Gln964Arg)
c.*2819A>G (n.*2819A>G)
c.2106+182228A>G (n.2106+182228A>G)
c.541A>G
3g.184326935A>TCA355413321EIF2B5,EIF4G1c.3380A>T (p.Gln1127Leu)
c.3314A>T (p.Gln1105Leu)
c.2727A>T (n.2727A>T)
c.2786A>T (p.Gln929Leu)
c.3383A>T (p.Gln1128Leu)
c.2888A>T (p.Gln963Leu)
c.3401A>T (p.Gln1134Leu)
c.3119A>T (p.Gln1040Leu)
c.3263A>T (p.Gln1088Leu)
c.3260A>T (p.Gln1087Leu)
c.3122A>T (p.Gln1041Leu)
c.2795A>T (p.Gln932Leu)
c.2792A>T (p.Gln931Leu)
c.2891A>T (p.Gln964Leu)
c.*2819A>T (n.*2819A>T)
c.2106+182228A>T (n.2106+182228A>T)
c.541A>T
3g.184326936A=CA1425957795EIF2B5,EIF4G1c.3381A= (p.Gln1127=)
c.3315A= (p.Gln1105=)
c.2728A= (n.2728A=)
c.2787A= (p.Gln929=)
c.3384A= (p.Gln1128=)
c.2889A= (p.Gln963=)
c.3402A= (p.Gln1134=)
c.3120A= (p.Gln1040=)
c.3264A= (p.Gln1088=)
c.3261A= (p.Gln1087=)
c.3123A= (p.Gln1041=)
c.2796A= (p.Gln932=)
c.2793A= (p.Gln931=)
c.2892A= (p.Gln964=)
c.*2820A= (n.*2820A=)
c.2106+182229A= (n.2106+182229A=)
c.542A=
3g.184326936A>CCA355413331EIF2B5,EIF4G1c.3381A>C (p.Gln1127His)
c.3315A>C (p.Gln1105His)
c.2728A>C (n.2728A>C)
c.2787A>C (p.Gln929His)
c.3384A>C (p.Gln1128His)
c.2889A>C (p.Gln963His)
c.3402A>C (p.Gln1134His)
c.3120A>C (p.Gln1040His)
c.3264A>C (p.Gln1088His)
c.3261A>C (p.Gln1087His)
c.3123A>C (p.Gln1041His)
c.2796A>C (p.Gln932His)
c.2793A>C (p.Gln931His)
c.2892A>C (p.Gln964His)
c.*2820A>C (n.*2820A>C)
c.2106+182229A>C (n.2106+182229A>C)
c.542A>C
3g.184326936A>GCA437162118EIF2B5,EIF4G1c.3381A>G (p.Gln1127=)
c.3315A>G (p.Gln1105=)
c.2728A>G (n.2728A>G)
c.2787A>G (p.Gln929=)
c.3384A>G (p.Gln1128=)
c.2889A>G (p.Gln963=)
c.3402A>G (p.Gln1134=)
c.3120A>G (p.Gln1040=)
c.3264A>G (p.Gln1088=)
c.3261A>G (p.Gln1087=)
c.3123A>G (p.Gln1041=)
c.2796A>G (p.Gln932=)
c.2793A>G (p.Gln931=)
c.2892A>G (p.Gln964=)
c.*2820A>G (n.*2820A>G)
c.2106+182229A>G (n.2106+182229A>G)
c.542A>G
 dbSNP gnomAD v3 gnomAD v4
3g.184326936A>TCA355413333EIF2B5,EIF4G1c.3381A>T (p.Gln1127His)
c.3315A>T (p.Gln1105His)
c.2728A>T (n.2728A>T)
c.2787A>T (p.Gln929His)
c.3384A>T (p.Gln1128His)
c.2889A>T (p.Gln963His)
c.3402A>T (p.Gln1134His)
c.3120A>T (p.Gln1040His)
c.3264A>T (p.Gln1088His)
c.3261A>T (p.Gln1087His)
c.3123A>T (p.Gln1041His)
c.2796A>T (p.Gln932His)
c.2793A>T (p.Gln931His)
c.2892A>T (p.Gln964His)
c.*2820A>T (n.*2820A>T)
c.2106+182229A>T (n.2106+182229A>T)
c.542A>T
3g.184326937C>ACA355413337EIF2B5,EIF4G1c.3382C>A (p.Gln1128Lys)
c.3316C>A (p.Gln1106Lys)
c.2729C>A (n.2729C>A)
c.2788C>A (p.Gln930Lys)
c.3385C>A (p.Gln1129Lys)
c.2890C>A (p.Gln964Lys)
c.3403C>A (p.Gln1135Lys)
c.3121C>A (p.Gln1041Lys)
c.3265C>A (p.Gln1089Lys)
c.3262C>A (p.Gln1088Lys)
c.3124C>A (p.Gln1042Lys)
c.2797C>A (p.Gln933Lys)
c.2794C>A (p.Gln932Lys)
c.2893C>A (p.Gln965Lys)
c.*2821C>A (n.*2821C>A)
c.2106+182230C>A (n.2106+182230C>A)
c.543C>A
3g.184326937C>GCA355413340EIF2B5,EIF4G1c.3382C>G (p.Gln1128Glu)
c.3316C>G (p.Gln1106Glu)
c.2729C>G (n.2729C>G)
c.2788C>G (p.Gln930Glu)
c.3385C>G (p.Gln1129Glu)
c.2890C>G (p.Gln964Glu)
c.3403C>G (p.Gln1135Glu)
c.3121C>G (p.Gln1041Glu)
c.3265C>G (p.Gln1089Glu)
c.3262C>G (p.Gln1088Glu)
c.3124C>G (p.Gln1042Glu)
c.2797C>G (p.Gln933Glu)
c.2794C>G (p.Gln932Glu)
c.2893C>G (p.Gln965Glu)
c.*2821C>G (n.*2821C>G)
c.2106+182230C>G (n.2106+182230C>G)
c.543C>G
3g.184326937C>TCA355413344EIF2B5,EIF4G1c.3382C>T (p.Gln1128Ter)
c.3316C>T (p.Gln1106Ter)
c.2729C>T (n.2729C>T)
c.2788C>T (p.Gln930Ter)
c.3385C>T (p.Gln1129Ter)
c.2890C>T (p.Gln964Ter)
c.3403C>T (p.Gln1135Ter)
c.3121C>T (p.Gln1041Ter)
c.3265C>T (p.Gln1089Ter)
c.3262C>T (p.Gln1088Ter)
c.3124C>T (p.Gln1042Ter)
c.2797C>T (p.Gln933Ter)
c.2794C>T (p.Gln932Ter)
c.2893C>T (p.Gln965Ter)
c.*2821C>T (n.*2821C>T)
c.2106+182230C>T (n.2106+182230C>T)
c.543C>T
3g.184326938A>CCA355413348EIF2B5,EIF4G1c.3383A>C (p.Gln1128Pro)
c.3317A>C (p.Gln1106Pro)
c.2730A>C (n.2730A>C)
c.2789A>C (p.Gln930Pro)
c.3386A>C (p.Gln1129Pro)
c.2891A>C (p.Gln964Pro)
c.3404A>C (p.Gln1135Pro)
c.3122A>C (p.Gln1041Pro)
c.3266A>C (p.Gln1089Pro)
c.3263A>C (p.Gln1088Pro)
c.3125A>C (p.Gln1042Pro)
c.2798A>C (p.Gln933Pro)
c.2795A>C (p.Gln932Pro)
c.2894A>C (p.Gln965Pro)
c.*2822A>C (n.*2822A>C)
c.2106+182231A>C (n.2106+182231A>C)
c.544A>C
3g.184326938A>GCA355413351EIF2B5,EIF4G1c.3383A>G (p.Gln1128Arg)
c.3317A>G (p.Gln1106Arg)
c.2730A>G (n.2730A>G)
c.2789A>G (p.Gln930Arg)
c.3386A>G (p.Gln1129Arg)
c.2891A>G (p.Gln964Arg)
c.3404A>G (p.Gln1135Arg)
c.3122A>G (p.Gln1041Arg)
c.3266A>G (p.Gln1089Arg)
c.3263A>G (p.Gln1088Arg)
c.3125A>G (p.Gln1042Arg)
c.2798A>G (p.Gln933Arg)
c.2795A>G (p.Gln932Arg)
c.2894A>G (p.Gln965Arg)
c.*2822A>G (n.*2822A>G)
c.2106+182231A>G (n.2106+182231A>G)
c.544A>G
3g.184326938A>TCA355413356EIF2B5,EIF4G1c.3383A>T (p.Gln1128Leu)
c.3317A>T (p.Gln1106Leu)
c.2730A>T (n.2730A>T)
c.2789A>T (p.Gln930Leu)
c.3386A>T (p.Gln1129Leu)
c.2891A>T (p.Gln964Leu)
c.3404A>T (p.Gln1135Leu)
c.3122A>T (p.Gln1041Leu)
c.3266A>T (p.Gln1089Leu)
c.3263A>T (p.Gln1088Leu)
c.3125A>T (p.Gln1042Leu)
c.2798A>T (p.Gln933Leu)
c.2795A>T (p.Gln932Leu)
c.2894A>T (p.Gln965Leu)
c.*2822A>T (n.*2822A>T)
c.2106+182231A>T (n.2106+182231A>T)
c.544A>T
3g.184326939A=CA1425957798EIF2B5,EIF4G1c.3384A= (p.Gln1128=)
c.3318A= (p.Gln1106=)
c.2731A= (n.2731A=)
c.2790A= (p.Gln930=)
c.3387A= (p.Gln1129=)
c.2892A= (p.Gln964=)
c.3405A= (p.Gln1135=)
c.3123A= (p.Gln1041=)
c.3267A= (p.Gln1089=)
c.3264A= (p.Gln1088=)
c.3126A= (p.Gln1042=)
c.2799A= (p.Gln933=)
c.2796A= (p.Gln932=)
c.2895A= (p.Gln965=)
c.*2823A= (n.*2823A=)
c.2106+182232A= (n.2106+182232A=)
c.545A=
3g.184326939A>CCA355413360EIF2B5,EIF4G1c.3384A>C (p.Gln1128His)
c.3318A>C (p.Gln1106His)
c.2731A>C (n.2731A>C)
c.2790A>C (p.Gln930His)
c.3387A>C (p.Gln1129His)
c.2892A>C (p.Gln964His)
c.3405A>C (p.Gln1135His)
c.3123A>C (p.Gln1041His)
c.3267A>C (p.Gln1089His)
c.3264A>C (p.Gln1088His)
c.3126A>C (p.Gln1042His)
c.2799A>C (p.Gln933His)
c.2796A>C (p.Gln932His)
c.2895A>C (p.Gln965His)
c.*2823A>C (n.*2823A>C)
c.2106+182232A>C (n.2106+182232A>C)
c.545A>C
3g.184326939A>GCA437162119EIF2B5,EIF4G1c.3384A>G (p.Gln1128=)
c.3318A>G (p.Gln1106=)
c.2731A>G (n.2731A>G)
c.2790A>G (p.Gln930=)
c.3387A>G (p.Gln1129=)
c.2892A>G (p.Gln964=)
c.3405A>G (p.Gln1135=)
c.3123A>G (p.Gln1041=)
c.3267A>G (p.Gln1089=)
c.3264A>G (p.Gln1088=)
c.3126A>G (p.Gln1042=)
c.2799A>G (p.Gln933=)
c.2796A>G (p.Gln932=)
c.2895A>G (p.Gln965=)
c.*2823A>G (n.*2823A>G)
c.2106+182232A>G (n.2106+182232A>G)
c.545A>G
 dbSNP gnomAD v4
3g.184326939A>TCA355413363EIF2B5,EIF4G1c.3384A>T (p.Gln1128His)
c.3318A>T (p.Gln1106His)
c.2731A>T (n.2731A>T)
c.2790A>T (p.Gln930His)
c.3387A>T (p.Gln1129His)
c.2892A>T (p.Gln964His)
c.3405A>T (p.Gln1135His)
c.3123A>T (p.Gln1041His)
c.3267A>T (p.Gln1089His)
c.3264A>T (p.Gln1088His)
c.3126A>T (p.Gln1042His)
c.2799A>T (p.Gln933His)
c.2796A>T (p.Gln932His)
c.2895A>T (p.Gln965His)
c.*2823A>T (n.*2823A>T)
c.2106+182232A>T (n.2106+182232A>T)
c.545A>T
3g.184326940G>ACA355413365EIF2B5,EIF4G1c.3385G>A (p.Ala1129Thr)
c.3319G>A (p.Ala1107Thr)
c.2732G>A (n.2732G>A)
c.2791G>A (p.Ala931Thr)
c.3388G>A (p.Ala1130Thr)
c.2893G>A (p.Ala965Thr)
c.3406G>A (p.Ala1136Thr)
c.3124G>A (p.Ala1042Thr)
c.3268G>A (p.Ala1090Thr)
c.3265G>A (p.Ala1089Thr)
c.3127G>A (p.Ala1043Thr)
c.2800G>A (p.Ala934Thr)
c.2797G>A (p.Ala933Thr)
c.2896G>A (p.Ala966Thr)
c.*2824G>A (n.*2824G>A)
c.2106+182233G>A (n.2106+182233G>A)
c.546G>A
3g.184326940G>CCA355413367EIF2B5,EIF4G1c.3385G>C (p.Ala1129Pro)
c.3319G>C (p.Ala1107Pro)
c.2732G>C (n.2732G>C)
c.2791G>C (p.Ala931Pro)
c.3388G>C (p.Ala1130Pro)
c.2893G>C (p.Ala965Pro)
c.3406G>C (p.Ala1136Pro)
c.3124G>C (p.Ala1042Pro)
c.3268G>C (p.Ala1090Pro)
c.3265G>C (p.Ala1089Pro)
c.3127G>C (p.Ala1043Pro)
c.2800G>C (p.Ala934Pro)
c.2797G>C (p.Ala933Pro)
c.2896G>C (p.Ala966Pro)
c.*2824G>C (n.*2824G>C)
c.2106+182233G>C (n.2106+182233G>C)
c.546G>C
3g.184326940G>TCA355413371EIF2B5,EIF4G1c.3385G>T (p.Ala1129Ser)
c.3319G>T (p.Ala1107Ser)
c.2732G>T (n.2732G>T)
c.2791G>T (p.Ala931Ser)
c.3388G>T (p.Ala1130Ser)
c.2893G>T (p.Ala965Ser)
c.3406G>T (p.Ala1136Ser)
c.3124G>T (p.Ala1042Ser)
c.3268G>T (p.Ala1090Ser)
c.3265G>T (p.Ala1089Ser)
c.3127G>T (p.Ala1043Ser)
c.2800G>T (p.Ala934Ser)
c.2797G>T (p.Ala933Ser)
c.2896G>T (p.Ala966Ser)
c.*2824G>T (n.*2824G>T)
c.2106+182233G>T (n.2106+182233G>T)
c.546G>T
3g.184326941C>ACA355413381EIF2B5,EIF4G1c.3386C>A (p.Ala1129Glu)
c.3320C>A (p.Ala1107Glu)
c.2733C>A (n.2733C>A)
c.2792C>A (p.Ala931Glu)
c.3389C>A (p.Ala1130Glu)
c.2894C>A (p.Ala965Glu)
c.3407C>A (p.Ala1136Glu)
c.3125C>A (p.Ala1042Glu)
c.3269C>A (p.Ala1090Glu)
c.3266C>A (p.Ala1089Glu)
c.3128C>A (p.Ala1043Glu)
c.2801C>A (p.Ala934Glu)
c.2798C>A (p.Ala933Glu)
c.2897C>A (p.Ala966Glu)
c.*2825C>A (n.*2825C>A)
c.2106+182234C>A (n.2106+182234C>A)
c.547C>A
3g.184326941C=CA1425957801EIF2B5,EIF4G1c.3386C= (p.Ala1129=)
c.3320C= (p.Ala1107=)
c.2733C= (n.2733C=)
c.2792C= (p.Ala931=)
c.3389C= (p.Ala1130=)
c.2894C= (p.Ala965=)
c.3407C= (p.Ala1136=)
c.3125C= (p.Ala1042=)
c.3269C= (p.Ala1090=)
c.3266C= (p.Ala1089=)
c.3128C= (p.Ala1043=)
c.2801C= (p.Ala934=)
c.2798C= (p.Ala933=)
c.2897C= (p.Ala966=)
c.*2825C= (n.*2825C=)
c.2106+182234C= (n.2106+182234C=)
c.547C=
3g.184326941C>GCA355413377EIF2B5,EIF4G1c.3386C>G (p.Ala1129Gly)
c.3320C>G (p.Ala1107Gly)
c.2733C>G (n.2733C>G)
c.2792C>G (p.Ala931Gly)
c.3389C>G (p.Ala1130Gly)
c.2894C>G (p.Ala965Gly)
c.3407C>G (p.Ala1136Gly)
c.3125C>G (p.Ala1042Gly)
c.3269C>G (p.Ala1090Gly)
c.3266C>G (p.Ala1089Gly)
c.3128C>G (p.Ala1043Gly)
c.2801C>G (p.Ala934Gly)
c.2798C>G (p.Ala933Gly)
c.2897C>G (p.Ala966Gly)
c.*2825C>G (n.*2825C>G)
c.2106+182234C>G (n.2106+182234C>G)
c.547C>G
3g.184326941C>TCA2732774EIF2B5,EIF4G1c.3386C>T (p.Ala1129Val)
c.3320C>T (p.Ala1107Val)
c.2733C>T (n.2733C>T)
c.2792C>T (p.Ala931Val)
c.3389C>T (p.Ala1130Val)
c.2894C>T (p.Ala965Val)
c.3407C>T (p.Ala1136Val)
c.3125C>T (p.Ala1042Val)
c.3269C>T (p.Ala1090Val)
c.3266C>T (p.Ala1089Val)
c.3128C>T (p.Ala1043Val)
c.2801C>T (p.Ala934Val)
c.2798C>T (p.Ala933Val)
c.2897C>T (p.Ala966Val)
c.*2825C>T (n.*2825C>T)
c.2106+182234C>T (n.2106+182234C>T)
c.547C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
3g.184326942G>ACA2732775EIF2B5,EIF4G1c.3387G>A (p.Ala1129=)
c.3321G>A (p.Ala1107=)
c.2734G>A (n.2734G>A)
c.2793G>A (p.Ala931=)
c.3390G>A (p.Ala1130=)
c.2895G>A (p.Ala965=)
c.3408G>A (p.Ala1136=)
c.3126G>A (p.Ala1042=)
c.3270G>A (p.Ala1090=)
c.3267G>A (p.Ala1089=)
c.3129G>A (p.Ala1043=)
c.2802G>A (p.Ala934=)
c.2799G>A (p.Ala933=)
c.2898G>A (p.Ala966=)
c.*2826G>A (n.*2826G>A)
c.2106+182235G>A (n.2106+182235G>A)
c.548G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.184326942G>CCA437162120EIF2B5,EIF4G1c.3387G>C (p.Ala1129=)
c.3321G>C (p.Ala1107=)
c.2734G>C (n.2734G>C)
c.2793G>C (p.Ala931=)
c.3390G>C (p.Ala1130=)
c.2895G>C (p.Ala965=)
c.3408G>C (p.Ala1136=)
c.3126G>C (p.Ala1042=)
c.3270G>C (p.Ala1090=)
c.3267G>C (p.Ala1089=)
c.3129G>C (p.Ala1043=)
c.2802G>C (p.Ala934=)
c.2799G>C (p.Ala933=)
c.2898G>C (p.Ala966=)
c.*2826G>C (n.*2826G>C)
c.2106+182235G>C (n.2106+182235G>C)
c.548G>C
3g.184326942G=CA1425957804EIF2B5,EIF4G1c.3387G= (p.Ala1129=)
c.3321G= (p.Ala1107=)
c.2734G= (n.2734G=)
c.2793G= (p.Ala931=)
c.3390G= (p.Ala1130=)
c.2895G= (p.Ala965=)
c.3408G= (p.Ala1136=)
c.3126G= (p.Ala1042=)
c.3270G= (p.Ala1090=)
c.3267G= (p.Ala1089=)
c.3129G= (p.Ala1043=)
c.2802G= (p.Ala934=)
c.2799G= (p.Ala933=)
c.2898G= (p.Ala966=)
c.*2826G= (n.*2826G=)
c.2106+182235G= (n.2106+182235G=)
c.548G=
3g.184326942G>TCA437162121EIF2B5,EIF4G1c.3387G>T (p.Ala1129=)
c.3321G>T (p.Ala1107=)
c.2734G>T (n.2734G>T)
c.2793G>T (p.Ala931=)
c.3390G>T (p.Ala1130=)
c.2895G>T (p.Ala965=)
c.3408G>T (p.Ala1136=)
c.3126G>T (p.Ala1042=)
c.3270G>T (p.Ala1090=)
c.3267G>T (p.Ala1089=)
c.3129G>T (p.Ala1043=)
c.2802G>T (p.Ala934=)
c.2799G>T (p.Ala933=)
c.2898G>T (p.Ala966=)
c.*2826G>T (n.*2826G>T)
c.2106+182235G>T (n.2106+182235G>T)
c.548G>T
 ClinVar
3g.184326943G>ACA355413389EIF2B5,EIF4G1c.3388G>A (p.Val1130Ile)
c.3322G>A (p.Val1108Ile)
c.2735G>A (n.2735G>A)
c.2794G>A (p.Val932Ile)
c.3391G>A (p.Val1131Ile)
c.2896G>A (p.Val966Ile)
c.3409G>A (p.Val1137Ile)
c.3127G>A (p.Val1043Ile)
c.3271G>A (p.Val1091Ile)
c.3268G>A (p.Val1090Ile)
c.3130G>A (p.Val1044Ile)
c.2803G>A (p.Val935Ile)
c.2800G>A (p.Val934Ile)
c.2899G>A (p.Val967Ile)
c.*2827G>A (n.*2827G>A)
c.2106+182236G>A (n.2106+182236G>A)
c.549G>A
3g.184326943G>CCA355413391EIF2B5,EIF4G1c.3388G>C (p.Val1130Leu)
c.3322G>C (p.Val1108Leu)
c.2735G>C (n.2735G>C)
c.2794G>C (p.Val932Leu)
c.3391G>C (p.Val1131Leu)
c.2896G>C (p.Val966Leu)
c.3409G>C (p.Val1137Leu)
c.3127G>C (p.Val1043Leu)
c.3271G>C (p.Val1091Leu)
c.3268G>C (p.Val1090Leu)
c.3130G>C (p.Val1044Leu)
c.2803G>C (p.Val935Leu)
c.2800G>C (p.Val934Leu)
c.2899G>C (p.Val967Leu)
c.*2827G>C (n.*2827G>C)
c.2106+182236G>C (n.2106+182236G>C)
c.549G>C
3g.184326943G=CA1425957807EIF2B5,EIF4G1c.3388G= (p.Val1130=)
c.3322G= (p.Val1108=)
c.2735G= (n.2735G=)
c.2794G= (p.Val932=)
c.3391G= (p.Val1131=)
c.2896G= (p.Val966=)
c.3409G= (p.Val1137=)
c.3127G= (p.Val1043=)
c.3271G= (p.Val1091=)
c.3268G= (p.Val1090=)
c.3130G= (p.Val1044=)
c.2803G= (p.Val935=)
c.2800G= (p.Val934=)
c.2899G= (p.Val967=)
c.*2827G= (n.*2827G=)
c.2106+182236G= (n.2106+182236G=)
c.549G=
3g.184326943G>TCA355413395EIF2B5,EIF4G1c.3388G>T (p.Val1130Leu)
c.3322G>T (p.Val1108Leu)
c.2735G>T (n.2735G>T)
c.2794G>T (p.Val932Leu)
c.3391G>T (p.Val1131Leu)
c.2896G>T (p.Val966Leu)
c.3409G>T (p.Val1137Leu)
c.3127G>T (p.Val1043Leu)
c.3271G>T (p.Val1091Leu)
c.3268G>T (p.Val1090Leu)
c.3130G>T (p.Val1044Leu)
c.2803G>T (p.Val935Leu)
c.2800G>T (p.Val934Leu)
c.2899G>T (p.Val967Leu)
c.*2827G>T (n.*2827G>T)
c.2106+182236G>T (n.2106+182236G>T)
c.549G>T
 dbSNP gnomAD v2 gnomAD v4
3g.184326944T>ACA355413398EIF2B5,EIF4G1c.3389T>A (p.Val1130Glu)
c.3323T>A (p.Val1108Glu)
c.2736T>A (n.2736T>A)
c.2795T>A (p.Val932Glu)
c.3392T>A (p.Val1131Glu)
c.2897T>A (p.Val966Glu)
c.3410T>A (p.Val1137Glu)
c.3128T>A (p.Val1043Glu)
c.3272T>A (p.Val1091Glu)
c.3269T>A (p.Val1090Glu)
c.3131T>A (p.Val1044Glu)
c.2804T>A (p.Val935Glu)
c.2801T>A (p.Val934Glu)
c.2900T>A (p.Val967Glu)
c.*2828T>A (n.*2828T>A)
c.2106+182237T>A (n.2106+182237T>A)
c.550T>A
3g.184326944T>CCA355413401EIF2B5,EIF4G1c.3389T>C (p.Val1130Ala)
c.3323T>C (p.Val1108Ala)
c.2736T>C (n.2736T>C)
c.2795T>C (p.Val932Ala)
c.3392T>C (p.Val1131Ala)
c.2897T>C (p.Val966Ala)
c.3410T>C (p.Val1137Ala)
c.3128T>C (p.Val1043Ala)
c.3272T>C (p.Val1091Ala)
c.3269T>C (p.Val1090Ala)
c.3131T>C (p.Val1044Ala)
c.2804T>C (p.Val935Ala)
c.2801T>C (p.Val934Ala)
c.2900T>C (p.Val967Ala)
c.*2828T>C (n.*2828T>C)
c.2106+182237T>C (n.2106+182237T>C)
c.550T>C
3g.184326944T>GCA355413403EIF2B5,EIF4G1c.3389T>G (p.Val1130Gly)
c.3323T>G (p.Val1108Gly)
c.2736T>G (n.2736T>G)
c.2795T>G (p.Val932Gly)
c.3392T>G (p.Val1131Gly)
c.2897T>G (p.Val966Gly)
c.3410T>G (p.Val1137Gly)
c.3128T>G (p.Val1043Gly)
c.3272T>G (p.Val1091Gly)
c.3269T>G (p.Val1090Gly)
c.3131T>G (p.Val1044Gly)
c.2804T>G (p.Val935Gly)
c.2801T>G (p.Val934Gly)
c.2900T>G (p.Val967Gly)
c.*2828T>G (n.*2828T>G)
c.2106+182237T>G (n.2106+182237T>G)
c.550T>G
3g.184326945A=CA1425957810EIF2B5,EIF4G1c.3390A= (p.Val1130=)
c.3324A= (p.Val1108=)
c.2737A= (n.2737A=)
c.2796A= (p.Val932=)
c.3393A= (p.Val1131=)
c.2898A= (p.Val966=)
c.3411A= (p.Val1137=)
c.3129A= (p.Val1043=)
c.3273A= (p.Val1091=)
c.3270A= (p.Val1090=)
c.3132A= (p.Val1044=)
c.2805A= (p.Val935=)
c.2802A= (p.Val934=)
c.2901A= (p.Val967=)
c.*2829A= (n.*2829A=)
c.2106+182238A= (n.2106+182238A=)
c.551A=
3g.184326945A>CCA437162127EIF2B5,EIF4G1c.3390A>C (p.Val1130=)
c.3324A>C (p.Val1108=)
c.2737A>C (n.2737A>C)
c.2796A>C (p.Val932=)
c.3393A>C (p.Val1131=)
c.2898A>C (p.Val966=)
c.3411A>C (p.Val1137=)
c.3129A>C (p.Val1043=)
c.3273A>C (p.Val1091=)
c.3270A>C (p.Val1090=)
c.3132A>C (p.Val1044=)
c.2805A>C (p.Val935=)
c.2802A>C (p.Val934=)
c.2901A>C (p.Val967=)
c.*2829A>C (n.*2829A>C)
c.2106+182238A>C (n.2106+182238A>C)
c.551A>C
 gnomAD v4
3g.184326945A>GCA437162126EIF2B5,EIF4G1c.3390A>G (p.Val1130=)
c.3324A>G (p.Val1108=)
c.2737A>G (n.2737A>G)
c.2796A>G (p.Val932=)
c.3393A>G (p.Val1131=)
c.2898A>G (p.Val966=)
c.3411A>G (p.Val1137=)
c.3129A>G (p.Val1043=)
c.3273A>G (p.Val1091=)
c.3270A>G (p.Val1090=)
c.3132A>G (p.Val1044=)
c.2805A>G (p.Val935=)
c.2802A>G (p.Val934=)
c.2901A>G (p.Val967=)
c.*2829A>G (n.*2829A>G)
c.2106+182238A>G (n.2106+182238A>G)
c.551A>G
 dbSNP gnomAD v2 gnomAD v4
3g.184326945A>TCA437162128EIF2B5,EIF4G1c.3390A>T (p.Val1130=)
c.3324A>T (p.Val1108=)
c.2737A>T (n.2737A>T)
c.2796A>T (p.Val932=)
c.3393A>T (p.Val1131=)
c.2898A>T (p.Val966=)
c.3411A>T (p.Val1137=)
c.3129A>T (p.Val1043=)
c.3273A>T (p.Val1091=)
c.3270A>T (p.Val1090=)
c.3132A>T (p.Val1044=)
c.2805A>T (p.Val935=)
c.2802A>T (p.Val934=)
c.2901A>T (p.Val967=)
c.*2829A>T (n.*2829A>T)
c.2106+182238A>T (n.2106+182238A>T)
c.551A>T
3g.184326946C>ACA355413407EIF2B5,EIF4G1c.3391C>A (p.Pro1131Thr)
c.3325C>A (p.Pro1109Thr)
c.2738C>A (n.2738C>A)
c.2797C>A (p.Pro933Thr)
c.3394C>A (p.Pro1132Thr)
c.2899C>A (p.Pro967Thr)
c.3412C>A (p.Pro1138Thr)
c.3130C>A (p.Pro1044Thr)
c.3274C>A (p.Pro1092Thr)
c.3271C>A (p.Pro1091Thr)
c.3133C>A (p.Pro1045Thr)
c.2806C>A (p.Pro936Thr)
c.2803C>A (p.Pro935Thr)
c.2902C>A (p.Pro968Thr)
c.*2830C>A (n.*2830C>A)
c.2106+182239C>A (n.2106+182239C>A)
c.552C>A
3g.184326946C=CA1425957813EIF2B5,EIF4G1c.3391C= (p.Pro1131=)
c.3325C= (p.Pro1109=)
c.2738C= (n.2738C=)
c.2797C= (p.Pro933=)
c.3394C= (p.Pro1132=)
c.2899C= (p.Pro967=)
c.3412C= (p.Pro1138=)
c.3130C= (p.Pro1044=)
c.3274C= (p.Pro1092=)
c.3271C= (p.Pro1091=)
c.3133C= (p.Pro1045=)
c.2806C= (p.Pro936=)
c.2803C= (p.Pro935=)
c.2902C= (p.Pro968=)
c.*2830C= (n.*2830C=)
c.2106+182239C= (n.2106+182239C=)
c.552C=
3g.184326946C>GCA355413411EIF2B5,EIF4G1c.3391C>G (p.Pro1131Ala)
c.3325C>G (p.Pro1109Ala)
c.2738C>G (n.2738C>G)
c.2797C>G (p.Pro933Ala)
c.3394C>G (p.Pro1132Ala)
c.2899C>G (p.Pro967Ala)
c.3412C>G (p.Pro1138Ala)
c.3130C>G (p.Pro1044Ala)
c.3274C>G (p.Pro1092Ala)
c.3271C>G (p.Pro1091Ala)
c.3133C>G (p.Pro1045Ala)
c.2806C>G (p.Pro936Ala)
c.2803C>G (p.Pro935Ala)
c.2902C>G (p.Pro968Ala)
c.*2830C>G (n.*2830C>G)
c.2106+182239C>G (n.2106+182239C>G)
c.552C>G
3g.184326946C>TCA2732776EIF2B5,EIF4G1c.3391C>T (p.Pro1131Ser)
c.3325C>T (p.Pro1109Ser)
c.2738C>T (n.2738C>T)
c.2797C>T (p.Pro933Ser)
c.3394C>T (p.Pro1132Ser)
c.2899C>T (p.Pro967Ser)
c.3412C>T (p.Pro1138Ser)
c.3130C>T (p.Pro1044Ser)
c.3274C>T (p.Pro1092Ser)
c.3271C>T (p.Pro1091Ser)
c.3133C>T (p.Pro1045Ser)
c.2806C>T (p.Pro936Ser)
c.2803C>T (p.Pro935Ser)
c.2902C>T (p.Pro968Ser)
c.*2830C>T (n.*2830C>T)
c.2106+182239C>T (n.2106+182239C>T)
c.552C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.184326947C>ACA355413418EIF2B5,EIF4G1c.3392C>A (p.Pro1131His)
c.3326C>A (p.Pro1109His)
c.2739C>A (n.2739C>A)
c.2798C>A (p.Pro933His)
c.3395C>A (p.Pro1132His)
c.2900C>A (p.Pro967His)
c.3413C>A (p.Pro1138His)
c.3131C>A (p.Pro1044His)
c.3275C>A (p.Pro1092His)
c.3272C>A (p.Pro1091His)
c.3134C>A (p.Pro1045His)
c.2807C>A (p.Pro936His)
c.2804C>A (p.Pro935His)
c.2903C>A (p.Pro968His)
c.*2831C>A (n.*2831C>A)
c.2106+182240C>A (n.2106+182240C>A)
c.553C>A
 ClinVar gnomAD v4
3g.184326947C>GCA355413420EIF2B5,EIF4G1c.3392C>G (p.Pro1131Arg)
c.3326C>G (p.Pro1109Arg)
c.2739C>G (n.2739C>G)
c.2798C>G (p.Pro933Arg)
c.3395C>G (p.Pro1132Arg)
c.2900C>G (p.Pro967Arg)
c.3413C>G (p.Pro1138Arg)
c.3131C>G (p.Pro1044Arg)
c.3275C>G (p.Pro1092Arg)
c.3272C>G (p.Pro1091Arg)
c.3134C>G (p.Pro1045Arg)
c.2807C>G (p.Pro936Arg)
c.2804C>G (p.Pro935Arg)
c.2903C>G (p.Pro968Arg)
c.*2831C>G (n.*2831C>G)
c.2106+182240C>G (n.2106+182240C>G)
c.553C>G
3g.184326947C>TCA355413422EIF2B5,EIF4G1c.3392C>T (p.Pro1131Leu)
c.3326C>T (p.Pro1109Leu)
c.2739C>T (n.2739C>T)
c.2798C>T (p.Pro933Leu)
c.3395C>T (p.Pro1132Leu)
c.2900C>T (p.Pro967Leu)
c.3413C>T (p.Pro1138Leu)
c.3131C>T (p.Pro1044Leu)
c.3275C>T (p.Pro1092Leu)
c.3272C>T (p.Pro1091Leu)
c.3134C>T (p.Pro1045Leu)
c.2807C>T (p.Pro936Leu)
c.2804C>T (p.Pro935Leu)
c.2903C>T (p.Pro968Leu)
c.*2831C>T (n.*2831C>T)
c.2106+182240C>T (n.2106+182240C>T)
c.553C>T
 gnomAD v4
3g.184326948C>ACA437162129EIF2B5,EIF4G1c.3393C>A (p.Pro1131=)
c.3327C>A (p.Pro1109=)
c.2740C>A (n.2740C>A)
c.2799C>A (p.Pro933=)
c.3396C>A (p.Pro1132=)
c.2901C>A (p.Pro967=)
c.3414C>A (p.Pro1138=)
c.3132C>A (p.Pro1044=)
c.3276C>A (p.Pro1092=)
c.3273C>A (p.Pro1091=)
c.3135C>A (p.Pro1045=)
c.2808C>A (p.Pro936=)
c.2805C>A (p.Pro935=)
c.2904C>A (p.Pro968=)
c.*2832C>A (n.*2832C>A)
c.2106+182241C>A (n.2106+182241C>A)
c.554C>A
3g.184326948C>GCA437162130EIF2B5,EIF4G1c.3393C>G (p.Pro1131=)
c.3327C>G (p.Pro1109=)
c.2740C>G (n.2740C>G)
c.2799C>G (p.Pro933=)
c.3396C>G (p.Pro1132=)
c.2901C>G (p.Pro967=)
c.3414C>G (p.Pro1138=)
c.3132C>G (p.Pro1044=)
c.3276C>G (p.Pro1092=)
c.3273C>G (p.Pro1091=)
c.3135C>G (p.Pro1045=)
c.2808C>G (p.Pro936=)
c.2805C>G (p.Pro935=)
c.2904C>G (p.Pro968=)
c.*2832C>G (n.*2832C>G)
c.2106+182241C>G (n.2106+182241C>G)
c.554C>G
3g.184326948C>TCA437162131EIF2B5,EIF4G1c.3393C>T (p.Pro1131=)
c.3327C>T (p.Pro1109=)
c.2740C>T (n.2740C>T)
c.2799C>T (p.Pro933=)
c.3396C>T (p.Pro1132=)
c.2901C>T (p.Pro967=)
c.3414C>T (p.Pro1138=)
c.3132C>T (p.Pro1044=)
c.3276C>T (p.Pro1092=)
c.3273C>T (p.Pro1091=)
c.3135C>T (p.Pro1045=)
c.2808C>T (p.Pro936=)
c.2805C>T (p.Pro935=)
c.2904C>T (p.Pro968=)
c.*2832C>T (n.*2832C>T)
c.2106+182241C>T (n.2106+182241C>T)
c.554C>T
3g.184326949A>CCA355413435EIF2B5,EIF4G1c.3394A>C (p.Thr1132Pro)
c.3328A>C (p.Thr1110Pro)
c.2741A>C (n.2741A>C)
c.2800A>C (p.Thr934Pro)
c.3397A>C (p.Thr1133Pro)
c.2902A>C (p.Thr968Pro)
c.3415A>C (p.Thr1139Pro)
c.3133A>C (p.Thr1045Pro)
c.3277A>C (p.Thr1093Pro)
c.3274A>C (p.Thr1092Pro)
c.3136A>C (p.Thr1046Pro)
c.2809A>C (p.Thr937Pro)
c.2806A>C (p.Thr936Pro)
c.2905A>C (p.Thr969Pro)
c.*2833A>C (n.*2833A>C)
c.2106+182242A>C (n.2106+182242A>C)
c.555A>C
 COSMIC
3g.184326949A>GCA355413431EIF2B5,EIF4G1c.3394A>G (p.Thr1132Ala)
c.3328A>G (p.Thr1110Ala)
c.2741A>G (n.2741A>G)
c.2800A>G (p.Thr934Ala)
c.3397A>G (p.Thr1133Ala)
c.2902A>G (p.Thr968Ala)
c.3415A>G (p.Thr1139Ala)
c.3133A>G (p.Thr1045Ala)
c.3277A>G (p.Thr1093Ala)
c.3274A>G (p.Thr1092Ala)
c.3136A>G (p.Thr1046Ala)
c.2809A>G (p.Thr937Ala)
c.2806A>G (p.Thr936Ala)
c.2905A>G (p.Thr969Ala)
c.*2833A>G (n.*2833A>G)
c.2106+182242A>G (n.2106+182242A>G)
c.555A>G
3g.184326949A>TCA355413427EIF2B5,EIF4G1c.3394A>T (p.Thr1132Ser)
c.3328A>T (p.Thr1110Ser)
c.2741A>T (n.2741A>T)
c.2800A>T (p.Thr934Ser)
c.3397A>T (p.Thr1133Ser)
c.2902A>T (p.Thr968Ser)
c.3415A>T (p.Thr1139Ser)
c.3133A>T (p.Thr1045Ser)
c.3277A>T (p.Thr1093Ser)
c.3274A>T (p.Thr1092Ser)
c.3136A>T (p.Thr1046Ser)
c.2809A>T (p.Thr937Ser)
c.2806A>T (p.Thr936Ser)
c.2905A>T (p.Thr969Ser)
c.*2833A>T (n.*2833A>T)
c.2106+182242A>T (n.2106+182242A>T)
c.555A>T
3g.184326950C>ACA355413441EIF2B5,EIF4G1c.3395C>A (p.Thr1132Lys)
c.3329C>A (p.Thr1110Lys)
c.2742C>A (n.2742C>A)
c.2801C>A (p.Thr934Lys)
c.3398C>A (p.Thr1133Lys)
c.2903C>A (p.Thr968Lys)
c.3416C>A (p.Thr1139Lys)
c.3134C>A (p.Thr1045Lys)
c.3278C>A (p.Thr1093Lys)
c.3275C>A (p.Thr1092Lys)
c.3137C>A (p.Thr1046Lys)
c.2810C>A (p.Thr937Lys)
c.2807C>A (p.Thr936Lys)
c.2906C>A (p.Thr969Lys)
c.*2834C>A (n.*2834C>A)
c.2106+182243C>A (n.2106+182243C>A)
c.556C>A
3g.184326950C>GCA355413446EIF2B5,EIF4G1c.3395C>G (p.Thr1132Arg)
c.3329C>G (p.Thr1110Arg)
c.2742C>G (n.2742C>G)
c.2801C>G (p.Thr934Arg)
c.3398C>G (p.Thr1133Arg)
c.2903C>G (p.Thr968Arg)
c.3416C>G (p.Thr1139Arg)
c.3134C>G (p.Thr1045Arg)
c.3278C>G (p.Thr1093Arg)
c.3275C>G (p.Thr1092Arg)
c.3137C>G (p.Thr1046Arg)
c.2810C>G (p.Thr937Arg)
c.2807C>G (p.Thr936Arg)
c.2906C>G (p.Thr969Arg)
c.*2834C>G (n.*2834C>G)
c.2106+182243C>G (n.2106+182243C>G)
c.556C>G
3g.184326950C>TCA355413442EIF2B5,EIF4G1c.3395C>T (p.Thr1132Ile)
c.3329C>T (p.Thr1110Ile)
c.2742C>T (n.2742C>T)
c.2801C>T (p.Thr934Ile)
c.3398C>T (p.Thr1133Ile)
c.2903C>T (p.Thr968Ile)
c.3416C>T (p.Thr1139Ile)
c.3134C>T (p.Thr1045Ile)
c.3278C>T (p.Thr1093Ile)
c.3275C>T (p.Thr1092Ile)
c.3137C>T (p.Thr1046Ile)
c.2810C>T (p.Thr937Ile)
c.2807C>T (p.Thr936Ile)
c.2906C>T (p.Thr969Ile)
c.*2834C>T (n.*2834C>T)
c.2106+182243C>T (n.2106+182243C>T)
c.556C>T
3g.184326951A=CA1425957815EIF2B5,EIF4G1c.3396A= (p.Thr1132=)
c.3330A= (p.Thr1110=)
c.2743A= (n.2743A=)
c.2802A= (p.Thr934=)
c.3399A= (p.Thr1133=)
c.2904A= (p.Thr968=)
c.3417A= (p.Thr1139=)
c.3135A= (p.Thr1045=)
c.3279A= (p.Thr1093=)
c.3276A= (p.Thr1092=)
c.3138A= (p.Thr1046=)
c.2811A= (p.Thr937=)
c.2808A= (p.Thr936=)
c.2907A= (p.Thr969=)
c.*2835A= (n.*2835A=)
c.2106+182244A= (n.2106+182244A=)
c.557A=
3g.184326951A>CCA437162135EIF2B5,EIF4G1c.3396A>C (p.Thr1132=)
c.3330A>C (p.Thr1110=)
c.2743A>C (n.2743A>C)
c.2802A>C (p.Thr934=)
c.3399A>C (p.Thr1133=)
c.2904A>C (p.Thr968=)
c.3417A>C (p.Thr1139=)
c.3135A>C (p.Thr1045=)
c.3279A>C (p.Thr1093=)
c.3276A>C (p.Thr1092=)
c.3138A>C (p.Thr1046=)
c.2811A>C (p.Thr937=)
c.2808A>C (p.Thr936=)
c.2907A>C (p.Thr969=)
c.*2835A>C (n.*2835A>C)
c.2106+182244A>C (n.2106+182244A>C)
c.557A>C
3g.184326951A>GCA437162136EIF2B5,EIF4G1c.3396A>G (p.Thr1132=)
c.3330A>G (p.Thr1110=)
c.2743A>G (n.2743A>G)
c.2802A>G (p.Thr934=)
c.3399A>G (p.Thr1133=)
c.2904A>G (p.Thr968=)
c.3417A>G (p.Thr1139=)
c.3135A>G (p.Thr1045=)
c.3279A>G (p.Thr1093=)
c.3276A>G (p.Thr1092=)
c.3138A>G (p.Thr1046=)
c.2811A>G (p.Thr937=)
c.2808A>G (p.Thr936=)
c.2907A>G (p.Thr969=)
c.*2835A>G (n.*2835A>G)
c.2106+182244A>G (n.2106+182244A>G)
c.557A>G
 dbSNP gnomAD v4
3g.184326951A>TCA437162137EIF2B5,EIF4G1c.3396A>T (p.Thr1132=)
c.3330A>T (p.Thr1110=)
c.2743A>T (n.2743A>T)
c.2802A>T (p.Thr934=)
c.3399A>T (p.Thr1133=)
c.2904A>T (p.Thr968=)
c.3417A>T (p.Thr1139=)
c.3135A>T (p.Thr1045=)
c.3279A>T (p.Thr1093=)
c.3276A>T (p.Thr1092=)
c.3138A>T (p.Thr1046=)
c.2811A>T (p.Thr937=)
c.2808A>T (p.Thr936=)
c.2907A>T (p.Thr969=)
c.*2835A>T (n.*2835A>T)
c.2106+182244A>T (n.2106+182244A>T)
c.557A>T
3g.184326952G>ACA355413451EIF2B5,EIF4G1c.3397G>A (p.Glu1133Lys)
c.3331G>A (p.Glu1111Lys)
c.2744G>A (n.2744G>A)
c.2803G>A (p.Glu935Lys)
c.3400G>A (p.Glu1134Lys)
c.2905G>A (p.Glu969Lys)
c.3418G>A (p.Glu1140Lys)
c.3136G>A (p.Glu1046Lys)
c.3280G>A (p.Glu1094Lys)
c.3277G>A (p.Glu1093Lys)
c.3139G>A (p.Glu1047Lys)
c.2812G>A (p.Glu938Lys)
c.2809G>A (p.Glu937Lys)
c.2908G>A (p.Glu970Lys)
c.*2836G>A (n.*2836G>A)
c.2106+182245G>A (n.2106+182245G>A)
c.558G>A
3g.184326952G>CCA355413453EIF2B5,EIF4G1c.3397G>C (p.Glu1133Gln)
c.3331G>C (p.Glu1111Gln)
c.2744G>C (n.2744G>C)
c.2803G>C (p.Glu935Gln)
c.3400G>C (p.Glu1134Gln)
c.2905G>C (p.Glu969Gln)
c.3418G>C (p.Glu1140Gln)
c.3136G>C (p.Glu1046Gln)
c.3280G>C (p.Glu1094Gln)
c.3277G>C (p.Glu1093Gln)
c.3139G>C (p.Glu1047Gln)
c.2812G>C (p.Glu938Gln)
c.2809G>C (p.Glu937Gln)
c.2908G>C (p.Glu970Gln)
c.*2836G>C (n.*2836G>C)
c.2106+182245G>C (n.2106+182245G>C)
c.558G>C
3g.184326952G>TCA355413456EIF2B5,EIF4G1c.3397G>T (p.Glu1133Ter)
c.3331G>T (p.Glu1111Ter)
c.2744G>T (n.2744G>T)
c.2803G>T (p.Glu935Ter)
c.3400G>T (p.Glu1134Ter)
c.2905G>T (p.Glu969Ter)
c.3418G>T (p.Glu1140Ter)
c.3136G>T (p.Glu1046Ter)
c.3280G>T (p.Glu1094Ter)
c.3277G>T (p.Glu1093Ter)
c.3139G>T (p.Glu1047Ter)
c.2812G>T (p.Glu938Ter)
c.2809G>T (p.Glu937Ter)
c.2908G>T (p.Glu970Ter)
c.*2836G>T (n.*2836G>T)
c.2106+182245G>T (n.2106+182245G>T)
c.558G>T
 COSMIC
3g.184326953A>CCA355413461EIF2B5,EIF4G1c.3398A>C (p.Glu1133Ala)
c.3332A>C (p.Glu1111Ala)
c.2745A>C (n.2745A>C)
c.2804A>C (p.Glu935Ala)
c.3401A>C (p.Glu1134Ala)
c.2906A>C (p.Glu969Ala)
c.3419A>C (p.Glu1140Ala)
c.3137A>C (p.Glu1046Ala)
c.3281A>C (p.Glu1094Ala)
c.3278A>C (p.Glu1093Ala)
c.3140A>C (p.Glu1047Ala)
c.2813A>C (p.Glu938Ala)
c.2810A>C (p.Glu937Ala)
c.2909A>C (p.Glu970Ala)
c.*2837A>C (n.*2837A>C)
c.2106+182246A>C (n.2106+182246A>C)
c.559A>C
3g.184326953A>GCA355413464EIF2B5,EIF4G1c.3398A>G (p.Glu1133Gly)
c.3332A>G (p.Glu1111Gly)
c.2745A>G (n.2745A>G)
c.2804A>G (p.Glu935Gly)
c.3401A>G (p.Glu1134Gly)
c.2906A>G (p.Glu969Gly)
c.3419A>G (p.Glu1140Gly)
c.3137A>G (p.Glu1046Gly)
c.3281A>G (p.Glu1094Gly)
c.3278A>G (p.Glu1093Gly)
c.3140A>G (p.Glu1047Gly)
c.2813A>G (p.Glu938Gly)
c.2810A>G (p.Glu937Gly)
c.2909A>G (p.Glu970Gly)
c.*2837A>G (n.*2837A>G)
c.2106+182246A>G (n.2106+182246A>G)
c.559A>G
3g.184326953A>TCA355413466EIF2B5,EIF4G1c.3398A>T (p.Glu1133Val)
c.3332A>T (p.Glu1111Val)
c.2745A>T (n.2745A>T)
c.2804A>T (p.Glu935Val)
c.3401A>T (p.Glu1134Val)
c.2906A>T (p.Glu969Val)
c.3419A>T (p.Glu1140Val)
c.3137A>T (p.Glu1046Val)
c.3281A>T (p.Glu1094Val)
c.3278A>T (p.Glu1093Val)
c.3140A>T (p.Glu1047Val)
c.2813A>T (p.Glu938Val)
c.2810A>T (p.Glu937Val)
c.2909A>T (p.Glu970Val)
c.*2837A>T (n.*2837A>T)
c.2106+182246A>T (n.2106+182246A>T)
c.559A>T
3g.184326954A>CCA355413471EIF2B5,EIF4G1c.3399A>C (p.Glu1133Asp)
c.3333A>C (p.Glu1111Asp)
c.2746A>C (n.2746A>C)
c.2805A>C (p.Glu935Asp)
c.3402A>C (p.Glu1134Asp)
c.2907A>C (p.Glu969Asp)
c.3420A>C (p.Glu1140Asp)
c.3138A>C (p.Glu1046Asp)
c.3282A>C (p.Glu1094Asp)
c.3279A>C (p.Glu1093Asp)
c.3141A>C (p.Glu1047Asp)
c.2814A>C (p.Glu938Asp)
c.2811A>C (p.Glu937Asp)
c.2910A>C (p.Glu970Asp)
c.*2838A>C (n.*2838A>C)
c.2106+182247A>C (n.2106+182247A>C)
c.560A>C
3g.184326954A>GCA437162141EIF2B5,EIF4G1c.3399A>G (p.Glu1133=)
c.3333A>G (p.Glu1111=)
c.2746A>G (n.2746A>G)
c.2805A>G (p.Glu935=)
c.3402A>G (p.Glu1134=)
c.2907A>G (p.Glu969=)
c.3420A>G (p.Glu1140=)
c.3138A>G (p.Glu1046=)
c.3282A>G (p.Glu1094=)
c.3279A>G (p.Glu1093=)
c.3141A>G (p.Glu1047=)
c.2814A>G (p.Glu938=)
c.2811A>G (p.Glu937=)
c.2910A>G (p.Glu970=)
c.*2838A>G (n.*2838A>G)
c.2106+182247A>G (n.2106+182247A>G)
c.560A>G
3g.184326954A>TCA355413473EIF2B5,EIF4G1c.3399A>T (p.Glu1133Asp)
c.3333A>T (p.Glu1111Asp)
c.2746A>T (n.2746A>T)
c.2805A>T (p.Glu935Asp)
c.3402A>T (p.Glu1134Asp)
c.2907A>T (p.Glu969Asp)
c.3420A>T (p.Glu1140Asp)
c.3138A>T (p.Glu1046Asp)
c.3282A>T (p.Glu1094Asp)
c.3279A>T (p.Glu1093Asp)
c.3141A>T (p.Glu1047Asp)
c.2814A>T (p.Glu938Asp)
c.2811A>T (p.Glu937Asp)
c.2910A>T (p.Glu970Asp)
c.*2838A>T (n.*2838A>T)
c.2106+182247A>T (n.2106+182247A>T)
c.560A>T
3g.184326955A>CCA355413478EIF2B5,EIF4G1c.3400A>C (p.Ser1134Arg)
c.3334A>C (p.Ser1112Arg)
c.2747A>C (n.2747A>C)
c.2806A>C (p.Ser936Arg)
c.3403A>C (p.Ser1135Arg)
c.2908A>C (p.Ser970Arg)
c.3421A>C (p.Ser1141Arg)
c.3139A>C (p.Ser1047Arg)
c.3283A>C (p.Ser1095Arg)
c.3280A>C (p.Ser1094Arg)
c.3142A>C (p.Ser1048Arg)
c.2815A>C (p.Ser939Arg)
c.2812A>C (p.Ser938Arg)
c.2911A>C (p.Ser971Arg)
c.*2839A>C (n.*2839A>C)
c.2106+182248A>C (n.2106+182248A>C)
c.561A>C
3g.184326955A>GCA355413480EIF2B5,EIF4G1c.3400A>G (p.Ser1134Gly)
c.3334A>G (p.Ser1112Gly)
c.2747A>G (n.2747A>G)
c.2806A>G (p.Ser936Gly)
c.3403A>G (p.Ser1135Gly)
c.2908A>G (p.Ser970Gly)
c.3421A>G (p.Ser1141Gly)
c.3139A>G (p.Ser1047Gly)
c.3283A>G (p.Ser1095Gly)
c.3280A>G (p.Ser1094Gly)
c.3142A>G (p.Ser1048Gly)
c.2815A>G (p.Ser939Gly)
c.2812A>G (p.Ser938Gly)
c.2911A>G (p.Ser971Gly)
c.*2839A>G (n.*2839A>G)
c.2106+182248A>G (n.2106+182248A>G)
c.561A>G
3g.184326955A>TCA355413483EIF2B5,EIF4G1c.3400A>T (p.Ser1134Cys)
c.3334A>T (p.Ser1112Cys)
c.2747A>T (n.2747A>T)
c.2806A>T (p.Ser936Cys)
c.3403A>T (p.Ser1135Cys)
c.2908A>T (p.Ser970Cys)
c.3421A>T (p.Ser1141Cys)
c.3139A>T (p.Ser1047Cys)
c.3283A>T (p.Ser1095Cys)
c.3280A>T (p.Ser1094Cys)
c.3142A>T (p.Ser1048Cys)
c.2815A>T (p.Ser939Cys)
c.2812A>T (p.Ser938Cys)
c.2911A>T (p.Ser971Cys)
c.*2839A>T (n.*2839A>T)
c.2106+182248A>T (n.2106+182248A>T)
c.561A>T
3g.184326956G>ACA355413487EIF2B5,EIF4G1c.3401G>A (p.Ser1134Asn)
c.3335G>A (p.Ser1112Asn)
c.2748G>A (n.2748G>A)
c.2807G>A (p.Ser936Asn)
c.3404G>A (p.Ser1135Asn)
c.2909G>A (p.Ser970Asn)
c.3422G>A (p.Ser1141Asn)
c.3140G>A (p.Ser1047Asn)
c.3284G>A (p.Ser1095Asn)
c.3281G>A (p.Ser1094Asn)
c.3143G>A (p.Ser1048Asn)
c.2816G>A (p.Ser939Asn)
c.2813G>A (p.Ser938Asn)
c.2912G>A (p.Ser971Asn)
c.*2840G>A (n.*2840G>A)
c.2106+182249G>A (n.2106+182249G>A)
c.562G>A
3g.184326956G>CCA355413490EIF2B5,EIF4G1c.3401G>C (p.Ser1134Thr)
c.3335G>C (p.Ser1112Thr)
c.2748G>C (n.2748G>C)
c.2807G>C (p.Ser936Thr)
c.3404G>C (p.Ser1135Thr)
c.2909G>C (p.Ser970Thr)
c.3422G>C (p.Ser1141Thr)
c.3140G>C (p.Ser1047Thr)
c.3284G>C (p.Ser1095Thr)
c.3281G>C (p.Ser1094Thr)
c.3143G>C (p.Ser1048Thr)
c.2816G>C (p.Ser939Thr)
c.2813G>C (p.Ser938Thr)
c.2912G>C (p.Ser971Thr)
c.*2840G>C (n.*2840G>C)
c.2106+182249G>C (n.2106+182249G>C)
c.562G>C
3g.184326956G>TCA355413492EIF2B5,EIF4G1c.3401G>T (p.Ser1134Ile)
c.3335G>T (p.Ser1112Ile)
c.2748G>T (n.2748G>T)
c.2807G>T (p.Ser936Ile)
c.3404G>T (p.Ser1135Ile)
c.2909G>T (p.Ser970Ile)
c.3422G>T (p.Ser1141Ile)
c.3140G>T (p.Ser1047Ile)
c.3284G>T (p.Ser1095Ile)
c.3281G>T (p.Ser1094Ile)
c.3143G>T (p.Ser1048Ile)
c.2816G>T (p.Ser939Ile)
c.2813G>T (p.Ser938Ile)
c.2912G>T (p.Ser971Ile)
c.*2840G>T (n.*2840G>T)
c.2106+182249G>T (n.2106+182249G>T)
c.562G>T
3g.184326957C>ACA355413497EIF2B5,EIF4G1c.3402C>A (p.Ser1134Arg)
c.3336C>A (p.Ser1112Arg)
c.2749C>A (n.2749C>A)
c.2808C>A (p.Ser936Arg)
c.3405C>A (p.Ser1135Arg)
c.2910C>A (p.Ser970Arg)
c.3423C>A (p.Ser1141Arg)
c.3141C>A (p.Ser1047Arg)
c.3285C>A (p.Ser1095Arg)
c.3282C>A (p.Ser1094Arg)
c.3144C>A (p.Ser1048Arg)
c.2817C>A (p.Ser939Arg)
c.2814C>A (p.Ser938Arg)
c.2913C>A (p.Ser971Arg)
c.*2841C>A (n.*2841C>A)
c.2106+182250C>A (n.2106+182250C>A)
c.563C>A
3g.184326957C>GCA355413499EIF2B5,EIF4G1c.3402C>G (p.Ser1134Arg)
c.3336C>G (p.Ser1112Arg)
c.2749C>G (n.2749C>G)
c.2808C>G (p.Ser936Arg)
c.3405C>G (p.Ser1135Arg)
c.2910C>G (p.Ser970Arg)
c.3423C>G (p.Ser1141Arg)
c.3141C>G (p.Ser1047Arg)
c.3285C>G (p.Ser1095Arg)
c.3282C>G (p.Ser1094Arg)
c.3144C>G (p.Ser1048Arg)
c.2817C>G (p.Ser939Arg)
c.2814C>G (p.Ser938Arg)
c.2913C>G (p.Ser971Arg)
c.*2841C>G (n.*2841C>G)
c.2106+182250C>G (n.2106+182250C>G)
c.563C>G
3g.184326957C>TCA437162143EIF2B5,EIF4G1c.3402C>T (p.Ser1134=)
c.3336C>T (p.Ser1112=)
c.2749C>T (n.2749C>T)
c.2808C>T (p.Ser936=)
c.3405C>T (p.Ser1135=)
c.2910C>T (p.Ser970=)
c.3423C>T (p.Ser1141=)
c.3141C>T (p.Ser1047=)
c.3285C>T (p.Ser1095=)
c.3282C>T (p.Ser1094=)
c.3144C>T (p.Ser1048=)
c.2817C>T (p.Ser939=)
c.2814C>T (p.Ser938=)
c.2913C>T (p.Ser971=)
c.*2841C>T (n.*2841C>T)
c.2106+182250C>T (n.2106+182250C>T)
c.563C>T
 COSMIC
3g.184326958A=CA1425957817EIF2B5,EIF4G1c.3403A= (p.Thr1135=)
c.3337A= (p.Thr1113=)
c.2750A= (n.2750A=)
c.2809A= (p.Thr937=)
c.3406A= (p.Thr1136=)
c.2911A= (p.Thr971=)
c.3424A= (p.Thr1142=)
c.3142A= (p.Thr1048=)
c.3286A= (p.Thr1096=)
c.3283A= (p.Thr1095=)
c.3145A= (p.Thr1049=)
c.2818A= (p.Thr940=)
c.2815A= (p.Thr939=)
c.2914A= (p.Thr972=)
c.*2842A= (n.*2842A=)
c.2106+182251A= (n.2106+182251A=)
c.564A=
3g.184326958A>CCA355413502EIF2B5,EIF4G1c.3403A>C (p.Thr1135Pro)
c.3337A>C (p.Thr1113Pro)
c.2750A>C (n.2750A>C)
c.2809A>C (p.Thr937Pro)
c.3406A>C (p.Thr1136Pro)
c.2911A>C (p.Thr971Pro)
c.3424A>C (p.Thr1142Pro)
c.3142A>C (p.Thr1048Pro)
c.3286A>C (p.Thr1096Pro)
c.3283A>C (p.Thr1095Pro)
c.3145A>C (p.Thr1049Pro)
c.2818A>C (p.Thr940Pro)
c.2815A>C (p.Thr939Pro)
c.2914A>C (p.Thr972Pro)
c.*2842A>C (n.*2842A>C)
c.2106+182251A>C (n.2106+182251A>C)
c.564A>C
3g.184326958A>GCA2732777EIF2B5,EIF4G1c.3403A>G (p.Thr1135Ala)
c.3337A>G (p.Thr1113Ala)
c.2750A>G (n.2750A>G)
c.2809A>G (p.Thr937Ala)
c.3406A>G (p.Thr1136Ala)
c.2911A>G (p.Thr971Ala)
c.3424A>G (p.Thr1142Ala)
c.3142A>G (p.Thr1048Ala)
c.3286A>G (p.Thr1096Ala)
c.3283A>G (p.Thr1095Ala)
c.3145A>G (p.Thr1049Ala)
c.2818A>G (p.Thr940Ala)
c.2815A>G (p.Thr939Ala)
c.2914A>G (p.Thr972Ala)
c.*2842A>G (n.*2842A>G)
c.2106+182251A>G (n.2106+182251A>G)
c.564A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.184326958A>TCA355413509EIF2B5,EIF4G1c.3403A>T (p.Thr1135Ser)
c.3337A>T (p.Thr1113Ser)
c.2750A>T (n.2750A>T)
c.2809A>T (p.Thr937Ser)
c.3406A>T (p.Thr1136Ser)
c.2911A>T (p.Thr971Ser)
c.3424A>T (p.Thr1142Ser)
c.3142A>T (p.Thr1048Ser)
c.3286A>T (p.Thr1096Ser)
c.3283A>T (p.Thr1095Ser)
c.3145A>T (p.Thr1049Ser)
c.2818A>T (p.Thr940Ser)
c.2815A>T (p.Thr939Ser)
c.2914A>T (p.Thr972Ser)
c.*2842A>T (n.*2842A>T)
c.2106+182251A>T (n.2106+182251A>T)
c.564A>T
3g.184326959C>ACA355413513EIF2B5,EIF4G1c.3404C>A (p.Thr1135Lys)
c.3338C>A (p.Thr1113Lys)
c.2751C>A (n.2751C>A)
c.2810C>A (p.Thr937Lys)
c.3407C>A (p.Thr1136Lys)
c.2912C>A (p.Thr971Lys)
c.3425C>A (p.Thr1142Lys)
c.3143C>A (p.Thr1048Lys)
c.3287C>A (p.Thr1096Lys)
c.3284C>A (p.Thr1095Lys)
c.3146C>A (p.Thr1049Lys)
c.2819C>A (p.Thr940Lys)
c.2816C>A (p.Thr939Lys)
c.2915C>A (p.Thr972Lys)
c.*2843C>A (n.*2843C>A)
c.2106+182252C>A (n.2106+182252C>A)
c.565C>A
3g.184326959C>GCA355413514EIF2B5,EIF4G1c.3404C>G (p.Thr1135Arg)
c.3338C>G (p.Thr1113Arg)
c.2751C>G (n.2751C>G)
c.2810C>G (p.Thr937Arg)
c.3407C>G (p.Thr1136Arg)
c.2912C>G (p.Thr971Arg)
c.3425C>G (p.Thr1142Arg)
c.3143C>G (p.Thr1048Arg)
c.3287C>G (p.Thr1096Arg)
c.3284C>G (p.Thr1095Arg)
c.3146C>G (p.Thr1049Arg)
c.2819C>G (p.Thr940Arg)
c.2816C>G (p.Thr939Arg)
c.2915C>G (p.Thr972Arg)
c.*2843C>G (n.*2843C>G)
c.2106+182252C>G (n.2106+182252C>G)
c.565C>G
3g.184326959C>TCA355413520EIF2B5,EIF4G1c.3404C>T (p.Thr1135Ile)
c.3338C>T (p.Thr1113Ile)
c.2751C>T (n.2751C>T)
c.2810C>T (p.Thr937Ile)
c.3407C>T (p.Thr1136Ile)
c.2912C>T (p.Thr971Ile)
c.3425C>T (p.Thr1142Ile)
c.3143C>T (p.Thr1048Ile)
c.3287C>T (p.Thr1096Ile)
c.3284C>T (p.Thr1095Ile)
c.3146C>T (p.Thr1049Ile)
c.2819C>T (p.Thr940Ile)
c.2816C>T (p.Thr939Ile)
c.2915C>T (p.Thr972Ile)
c.*2843C>T (n.*2843C>T)
c.2106+182252C>T (n.2106+182252C>T)
c.565C>T
3g.184326960A=CA1425957821EIF2B5,EIF4G1c.3405A= (p.Thr1135=)
c.3339A= (p.Thr1113=)
c.2752A= (n.2752A=)
c.2811A= (p.Thr937=)
c.3408A= (p.Thr1136=)
c.2913A= (p.Thr971=)
c.3426A= (p.Thr1142=)
c.3144A= (p.Thr1048=)
c.3288A= (p.Thr1096=)
c.3285A= (p.Thr1095=)
c.3147A= (p.Thr1049=)
c.2820A= (p.Thr940=)
c.2817A= (p.Thr939=)
c.2916A= (p.Thr972=)
c.*2844A= (n.*2844A=)
c.2106+182253A= (n.2106+182253A=)
c.566A=
3g.184326960A>CCA437162146EIF2B5,EIF4G1c.3405A>C (p.Thr1135=)
c.3339A>C (p.Thr1113=)
c.2752A>C (n.2752A>C)
c.2811A>C (p.Thr937=)
c.3408A>C (p.Thr1136=)
c.2913A>C (p.Thr971=)
c.3426A>C (p.Thr1142=)
c.3144A>C (p.Thr1048=)
c.3288A>C (p.Thr1096=)
c.3285A>C (p.Thr1095=)
c.3147A>C (p.Thr1049=)
c.2820A>C (p.Thr940=)
c.2817A>C (p.Thr939=)
c.2916A>C (p.Thr972=)
c.*2844A>C (n.*2844A>C)
c.2106+182253A>C (n.2106+182253A>C)
c.566A>C
3g.184326960A>GCA437162147EIF2B5,EIF4G1c.3405A>G (p.Thr1135=)
c.3339A>G (p.Thr1113=)
c.2752A>G (n.2752A>G)
c.2811A>G (p.Thr937=)
c.3408A>G (p.Thr1136=)
c.2913A>G (p.Thr971=)
c.3426A>G (p.Thr1142=)
c.3144A>G (p.Thr1048=)
c.3288A>G (p.Thr1096=)
c.3285A>G (p.Thr1095=)
c.3147A>G (p.Thr1049=)
c.2820A>G (p.Thr940=)
c.2817A>G (p.Thr939=)
c.2916A>G (p.Thr972=)
c.*2844A>G (n.*2844A>G)
c.2106+182253A>G (n.2106+182253A>G)
c.566A>G
 dbSNP
3g.184326960A>TCA437162148EIF2B5,EIF4G1c.3405A>T (p.Thr1135=)
c.3339A>T (p.Thr1113=)
c.2752A>T (n.2752A>T)
c.2811A>T (p.Thr937=)
c.3408A>T (p.Thr1136=)
c.2913A>T (p.Thr971=)
c.3426A>T (p.Thr1142=)
c.3144A>T (p.Thr1048=)
c.3288A>T (p.Thr1096=)
c.3285A>T (p.Thr1095=)
c.3147A>T (p.Thr1049=)
c.2820A>T (p.Thr940=)
c.2817A>T (p.Thr939=)
c.2916A>T (p.Thr972=)
c.*2844A>T (n.*2844A>T)
c.2106+182253A>T (n.2106+182253A>T)
c.566A>T
3g.184326961G>ACA355413523EIF2B5,EIF4G1c.3406G>A (p.Asp1136Asn)
c.3340G>A (p.Asp1114Asn)
c.2753G>A (n.2753G>A)
c.2812G>A (p.Asp938Asn)
c.3409G>A (p.Asp1137Asn)
c.2914G>A (p.Asp972Asn)
c.3427G>A (p.Asp1143Asn)
c.3145G>A (p.Asp1049Asn)
c.3289G>A (p.Asp1097Asn)
c.3286G>A (p.Asp1096Asn)
c.3148G>A (p.Asp1050Asn)
c.2821G>A (p.Asp941Asn)
c.2818G>A (p.Asp940Asn)
c.2917G>A (p.Asp973Asn)
c.*2845G>A (n.*2845G>A)
c.2106+182254G>A (n.2106+182254G>A)
c.567G>A
3g.184326961G>CCA2732778EIF2B5,EIF4G1c.3406G>C (p.Asp1136His)
c.3340G>C (p.Asp1114His)
c.2753G>C (n.2753G>C)
c.2812G>C (p.Asp938His)
c.3409G>C (p.Asp1137His)
c.2914G>C (p.Asp972His)
c.3427G>C (p.Asp1143His)
c.3145G>C (p.Asp1049His)
c.3289G>C (p.Asp1097His)
c.3286G>C (p.Asp1096His)
c.3148G>C (p.Asp1050His)
c.2821G>C (p.Asp941His)
c.2818G>C (p.Asp940His)
c.2917G>C (p.Asp973His)
c.*2845G>C (n.*2845G>C)
c.2106+182254G>C (n.2106+182254G>C)
c.567G>C
 dbSNP ExAC gnomAD v2
3g.184326961G=CA1425957826EIF2B5,EIF4G1c.3406G= (p.Asp1136=)
c.3340G= (p.Asp1114=)
c.2753G= (n.2753G=)
c.2812G= (p.Asp938=)
c.3409G= (p.Asp1137=)
c.2914G= (p.Asp972=)
c.3427G= (p.Asp1143=)
c.3145G= (p.Asp1049=)
c.3289G= (p.Asp1097=)
c.3286G= (p.Asp1096=)
c.3148G= (p.Asp1050=)
c.2821G= (p.Asp941=)
c.2818G= (p.Asp940=)
c.2917G= (p.Asp973=)
c.*2845G= (n.*2845G=)
c.2106+182254G= (n.2106+182254G=)
c.567G=
3g.184326961G>TCA355413532EIF2B5,EIF4G1c.3406G>T (p.Asp1136Tyr)
c.3340G>T (p.Asp1114Tyr)
c.2753G>T (n.2753G>T)
c.2812G>T (p.Asp938Tyr)
c.3409G>T (p.Asp1137Tyr)
c.2914G>T (p.Asp972Tyr)
c.3427G>T (p.Asp1143Tyr)
c.3145G>T (p.Asp1049Tyr)
c.3289G>T (p.Asp1097Tyr)
c.3286G>T (p.Asp1096Tyr)
c.3148G>T (p.Asp1050Tyr)
c.2821G>T (p.Asp941Tyr)
c.2818G>T (p.Asp940Tyr)
c.2917G>T (p.Asp973Tyr)
c.*2845G>T (n.*2845G>T)
c.2106+182254G>T (n.2106+182254G>T)
c.567G>T
3g.184326962A>CCA355413536EIF2B5,EIF4G1c.3407A>C (p.Asp1136Ala)
c.3341A>C (p.Asp1114Ala)
c.2754A>C (n.2754A>C)
c.2813A>C (p.Asp938Ala)
c.3410A>C (p.Asp1137Ala)
c.2915A>C (p.Asp972Ala)
c.3428A>C (p.Asp1143Ala)
c.3146A>C (p.Asp1049Ala)
c.3290A>C (p.Asp1097Ala)
c.3287A>C (p.Asp1096Ala)
c.3149A>C (p.Asp1050Ala)
c.2822A>C (p.Asp941Ala)
c.2819A>C (p.Asp940Ala)
c.2918A>C (p.Asp973Ala)
c.*2846A>C (n.*2846A>C)
c.2106+182255A>C (n.2106+182255A>C)
c.568A>C
3g.184326962A>GCA355413540EIF2B5,EIF4G1c.3407A>G (p.Asp1136Gly)
c.3341A>G (p.Asp1114Gly)
c.2754A>G (n.2754A>G)
c.2813A>G (p.Asp938Gly)
c.3410A>G (p.Asp1137Gly)
c.2915A>G (p.Asp972Gly)
c.3428A>G (p.Asp1143Gly)
c.3146A>G (p.Asp1049Gly)
c.3290A>G (p.Asp1097Gly)
c.3287A>G (p.Asp1096Gly)
c.3149A>G (p.Asp1050Gly)
c.2822A>G (p.Asp941Gly)
c.2819A>G (p.Asp940Gly)
c.2918A>G (p.Asp973Gly)
c.*2846A>G (n.*2846A>G)
c.2106+182255A>G (n.2106+182255A>G)
c.568A>G
3g.184326962A>TCA355413547EIF2B5,EIF4G1c.3407A>T (p.Asp1136Val)
c.3341A>T (p.Asp1114Val)
c.2754A>T (n.2754A>T)
c.2813A>T (p.Asp938Val)
c.3410A>T (p.Asp1137Val)
c.2915A>T (p.Asp972Val)
c.3428A>T (p.Asp1143Val)
c.3146A>T (p.Asp1049Val)
c.3290A>T (p.Asp1097Val)
c.3287A>T (p.Asp1096Val)
c.3149A>T (p.Asp1050Val)
c.2822A>T (p.Asp941Val)
c.2819A>T (p.Asp940Val)
c.2918A>T (p.Asp973Val)
c.*2846A>T (n.*2846A>T)
c.2106+182255A>T (n.2106+182255A>T)
c.568A>T
3g.184326963T>ACA355413550EIF2B5,EIF4G1c.3408T>A (p.Asp1136Glu)
c.3342T>A (p.Asp1114Glu)
c.2755T>A (n.2755T>A)
c.2814T>A (p.Asp938Glu)
c.3411T>A (p.Asp1137Glu)
c.2916T>A (p.Asp972Glu)
c.3429T>A (p.Asp1143Glu)
c.3147T>A (p.Asp1049Glu)
c.3291T>A (p.Asp1097Glu)
c.3288T>A (p.Asp1096Glu)
c.3150T>A (p.Asp1050Glu)
c.2823T>A (p.Asp941Glu)
c.2820T>A (p.Asp940Glu)
c.2919T>A (p.Asp973Glu)
c.*2847T>A (n.*2847T>A)
c.2106+182256T>A (n.2106+182256T>A)
c.569T>A
3g.184326963T>CCA437162151EIF2B5,EIF4G1c.3408T>C (p.Asp1136=)
c.3342T>C (p.Asp1114=)
c.2755T>C (n.2755T>C)
c.2814T>C (p.Asp938=)
c.3411T>C (p.Asp1137=)
c.2916T>C (p.Asp972=)
c.3429T>C (p.Asp1143=)
c.3147T>C (p.Asp1049=)
c.3291T>C (p.Asp1097=)
c.3288T>C (p.Asp1096=)
c.3150T>C (p.Asp1050=)
c.2823T>C (p.Asp941=)
c.2820T>C (p.Asp940=)
c.2919T>C (p.Asp973=)
c.*2847T>C (n.*2847T>C)
c.2106+182256T>C (n.2106+182256T>C)
c.569T>C
3g.184326963T>GCA355413553EIF2B5,EIF4G1c.3408T>G (p.Asp1136Glu)
c.3342T>G (p.Asp1114Glu)
c.2755T>G (n.2755T>G)
c.2814T>G (p.Asp938Glu)
c.3411T>G (p.Asp1137Glu)
c.2916T>G (p.Asp972Glu)
c.3429T>G (p.Asp1143Glu)
c.3147T>G (p.Asp1049Glu)
c.3291T>G (p.Asp1097Glu)
c.3288T>G (p.Asp1096Glu)
c.3150T>G (p.Asp1050Glu)
c.2823T>G (p.Asp941Glu)
c.2820T>G (p.Asp940Glu)
c.2919T>G (p.Asp973Glu)
c.*2847T>G (n.*2847T>G)
c.2106+182256T>G (n.2106+182256T>G)
c.569T>G
3g.184326964A>CCA355413557EIF2B5,EIF4G1c.3409A>C (p.Asn1137His)
c.3343A>C (p.Asn1115His)
c.2756A>C (n.2756A>C)
c.2815A>C (p.Asn939His)
c.3412A>C (p.Asn1138His)
c.2917A>C (p.Asn973His)
c.3430A>C (p.Asn1144His)
c.3148A>C (p.Asn1050His)
c.3292A>C (p.Asn1098His)
c.3289A>C (p.Asn1097His)
c.3151A>C (p.Asn1051His)
c.2824A>C (p.Asn942His)
c.2821A>C (p.Asn941His)
c.2920A>C (p.Asn974His)
c.*2848A>C (n.*2848A>C)
c.2106+182257A>C (n.2106+182257A>C)
c.570A>C
 gnomAD v4
3g.184326964A>GCA355413558EIF2B5,EIF4G1c.3409A>G (p.Asn1137Asp)
c.3343A>G (p.Asn1115Asp)
c.2756A>G (n.2756A>G)
c.2815A>G (p.Asn939Asp)
c.3412A>G (p.Asn1138Asp)
c.2917A>G (p.Asn973Asp)
c.3430A>G (p.Asn1144Asp)
c.3148A>G (p.Asn1050Asp)
c.3292A>G (p.Asn1098Asp)
c.3289A>G (p.Asn1097Asp)
c.3151A>G (p.Asn1051Asp)
c.2824A>G (p.Asn942Asp)
c.2821A>G (p.Asn941Asp)
c.2920A>G (p.Asn974Asp)
c.*2848A>G (n.*2848A>G)
c.2106+182257A>G (n.2106+182257A>G)
c.570A>G
 gnomAD v4
3g.184326964A>TCA355413559EIF2B5,EIF4G1c.3409A>T (p.Asn1137Tyr)
c.3343A>T (p.Asn1115Tyr)
c.2756A>T (n.2756A>T)
c.2815A>T (p.Asn939Tyr)
c.3412A>T (p.Asn1138Tyr)
c.2917A>T (p.Asn973Tyr)
c.3430A>T (p.Asn1144Tyr)
c.3148A>T (p.Asn1050Tyr)
c.3292A>T (p.Asn1098Tyr)
c.3289A>T (p.Asn1097Tyr)
c.3151A>T (p.Asn1051Tyr)
c.2824A>T (p.Asn942Tyr)
c.2821A>T (p.Asn941Tyr)
c.2920A>T (p.Asn974Tyr)
c.*2848A>T (n.*2848A>T)
c.2106+182257A>T (n.2106+182257A>T)
c.570A>T
3g.184326965A>CCA355413560EIF2B5,EIF4G1c.3410A>C (p.Asn1137Thr)
c.3344A>C (p.Asn1115Thr)
c.2757A>C (n.2757A>C)
c.2816A>C (p.Asn939Thr)
c.3413A>C (p.Asn1138Thr)
c.2918A>C (p.Asn973Thr)
c.3431A>C (p.Asn1144Thr)
c.3149A>C (p.Asn1050Thr)
c.3293A>C (p.Asn1098Thr)
c.3290A>C (p.Asn1097Thr)
c.3152A>C (p.Asn1051Thr)
c.2825A>C (p.Asn942Thr)
c.2822A>C (p.Asn941Thr)
c.2921A>C (p.Asn974Thr)
c.*2849A>C (n.*2849A>C)
c.2106+182258A>C (n.2106+182258A>C)
c.571A>C
3g.184326965A>GCA355413562EIF2B5,EIF4G1c.3410A>G (p.Asn1137Ser)
c.3344A>G (p.Asn1115Ser)
c.2757A>G (n.2757A>G)
c.2816A>G (p.Asn939Ser)
c.3413A>G (p.Asn1138Ser)
c.2918A>G (p.Asn973Ser)
c.3431A>G (p.Asn1144Ser)
c.3149A>G (p.Asn1050Ser)
c.3293A>G (p.Asn1098Ser)
c.3290A>G (p.Asn1097Ser)
c.3152A>G (p.Asn1051Ser)
c.2825A>G (p.Asn942Ser)
c.2822A>G (p.Asn941Ser)
c.2921A>G (p.Asn974Ser)
c.*2849A>G (n.*2849A>G)
c.2106+182258A>G (n.2106+182258A>G)
c.571A>G
3g.184326965A>TCA355413564EIF2B5,EIF4G1c.3410A>T (p.Asn1137Ile)
c.3344A>T (p.Asn1115Ile)
c.2757A>T (n.2757A>T)
c.2816A>T (p.Asn939Ile)
c.3413A>T (p.Asn1138Ile)
c.2918A>T (p.Asn973Ile)
c.3431A>T (p.Asn1144Ile)
c.3149A>T (p.Asn1050Ile)
c.3293A>T (p.Asn1098Ile)
c.3290A>T (p.Asn1097Ile)
c.3152A>T (p.Asn1051Ile)
c.2825A>T (p.Asn942Ile)
c.2822A>T (p.Asn941Ile)
c.2921A>T (p.Asn974Ile)
c.*2849A>T (n.*2849A>T)
c.2106+182258A>T (n.2106+182258A>T)
c.571A>T
3g.184326966T>ACA355413566EIF2B5,EIF4G1c.3411T>A (p.Asn1137Lys)
c.3345T>A (p.Asn1115Lys)
c.2758T>A (n.2758T>A)
c.2817T>A (p.Asn939Lys)
c.3414T>A (p.Asn1138Lys)
c.2919T>A (p.Asn973Lys)
c.3432T>A (p.Asn1144Lys)
c.3150T>A (p.Asn1050Lys)
c.3294T>A (p.Asn1098Lys)
c.3291T>A (p.Asn1097Lys)
c.3153T>A (p.Asn1051Lys)
c.2826T>A (p.Asn942Lys)
c.2823T>A (p.Asn941Lys)
c.2922T>A (p.Asn974Lys)
c.*2850T>A (n.*2850T>A)
c.2106+182259T>A (n.2106+182259T>A)
c.572T>A
3g.184326966T>CCA2732779EIF2B5,EIF4G1c.3411T>C (p.Asn1137=)
c.3345T>C (p.Asn1115=)
c.2758T>C (n.2758T>C)
c.2817T>C (p.Asn939=)
c.3414T>C (p.Asn1138=)
c.2919T>C (p.Asn973=)
c.3432T>C (p.Asn1144=)
c.3150T>C (p.Asn1050=)
c.3294T>C (p.Asn1098=)
c.3291T>C (p.Asn1097=)
c.3153T>C (p.Asn1051=)
c.2826T>C (p.Asn942=)
c.2823T>C (p.Asn941=)
c.2922T>C (p.Asn974=)
c.*2850T>C (n.*2850T>C)
c.2106+182259T>C (n.2106+182259T>C)
c.572T>C
 dbSNP ExAC
3g.184326966T>GCA355413569EIF2B5,EIF4G1c.3411T>G (p.Asn1137Lys)
c.3345T>G (p.Asn1115Lys)
c.2758T>G (n.2758T>G)
c.2817T>G (p.Asn939Lys)
c.3414T>G (p.Asn1138Lys)
c.2919T>G (p.Asn973Lys)
c.3432T>G (p.Asn1144Lys)
c.3150T>G (p.Asn1050Lys)
c.3294T>G (p.Asn1098Lys)
c.3291T>G (p.Asn1097Lys)
c.3153T>G (p.Asn1051Lys)
c.2826T>G (p.Asn942Lys)
c.2823T>G (p.Asn941Lys)
c.2922T>G (p.Asn974Lys)
c.*2850T>G (n.*2850T>G)
c.2106+182259T>G (n.2106+182259T>G)
c.572T>G
3g.184326966T=CA1425957832EIF2B5,EIF4G1c.3411T= (p.Asn1137=)
c.3345T= (p.Asn1115=)
c.2758T= (n.2758T=)
c.2817T= (p.Asn939=)
c.3414T= (p.Asn1138=)
c.2919T= (p.Asn973=)
c.3432T= (p.Asn1144=)
c.3150T= (p.Asn1050=)
c.3294T= (p.Asn1098=)
c.3291T= (p.Asn1097=)
c.3153T= (p.Asn1051=)
c.2826T= (p.Asn942=)
c.2823T= (p.Asn941=)
c.2922T= (p.Asn974=)
c.*2850T= (n.*2850T=)
c.2106+182259T= (n.2106+182259T=)
c.572T=
3g.184326967A>CCA437162155EIF2B5,EIF4G1c.3412A>C (p.Arg1138=)
c.3346A>C (p.Arg1116=)
c.2759A>C (n.2759A>C)
c.2818A>C (p.Arg940=)
c.3415A>C (p.Arg1139=)
c.2920A>C (p.Arg974=)
c.3433A>C (p.Arg1145=)
c.3151A>C (p.Arg1051=)
c.3295A>C (p.Arg1099=)
c.3292A>C (p.Arg1098=)
c.3154A>C (p.Arg1052=)
c.2827A>C (p.Arg943=)
c.2824A>C (p.Arg942=)
c.2923A>C (p.Arg975=)
c.*2851A>C (n.*2851A>C)
c.2106+182260A>C (n.2106+182260A>C)
c.573A>C
3g.184326967A>GCA355413574EIF2B5,EIF4G1c.3412A>G (p.Arg1138Gly)
c.3346A>G (p.Arg1116Gly)
c.2759A>G (n.2759A>G)
c.2818A>G (p.Arg940Gly)
c.3415A>G (p.Arg1139Gly)
c.2920A>G (p.Arg974Gly)
c.3433A>G (p.Arg1145Gly)
c.3151A>G (p.Arg1051Gly)
c.3295A>G (p.Arg1099Gly)
c.3292A>G (p.Arg1098Gly)
c.3154A>G (p.Arg1052Gly)
c.2827A>G (p.Arg943Gly)
c.2824A>G (p.Arg942Gly)
c.2923A>G (p.Arg975Gly)
c.*2851A>G (n.*2851A>G)
c.2106+182260A>G (n.2106+182260A>G)
c.573A>G
3g.184326967A>TCA355413576EIF2B5,EIF4G1c.3412A>T (p.Arg1138Ter)
c.3346A>T (p.Arg1116Ter)
c.2759A>T (n.2759A>T)
c.2818A>T (p.Arg940Ter)
c.3415A>T (p.Arg1139Ter)
c.2920A>T (p.Arg974Ter)
c.3433A>T (p.Arg1145Ter)
c.3151A>T (p.Arg1051Ter)
c.3295A>T (p.Arg1099Ter)
c.3292A>T (p.Arg1098Ter)
c.3154A>T (p.Arg1052Ter)
c.2827A>T (p.Arg943Ter)
c.2824A>T (p.Arg942Ter)
c.2923A>T (p.Arg975Ter)
c.*2851A>T (n.*2851A>T)
c.2106+182260A>T (n.2106+182260A>T)
c.573A>T
3g.184326968G>ACA355413581EIF2B5,EIF4G1c.3413G>A (p.Arg1138Lys)
c.3347G>A (p.Arg1116Lys)
c.2760G>A (n.2760G>A)
c.2819G>A (p.Arg940Lys)
c.3416G>A (p.Arg1139Lys)
c.2921G>A (p.Arg974Lys)
c.3434G>A (p.Arg1145Lys)
c.3152G>A (p.Arg1051Lys)
c.3296G>A (p.Arg1099Lys)
c.3293G>A (p.Arg1098Lys)
c.3155G>A (p.Arg1052Lys)
c.2828G>A (p.Arg943Lys)
c.2825G>A (p.Arg942Lys)
c.2924G>A (p.Arg975Lys)
c.*2852G>A (n.*2852G>A)
c.2106+182261G>A (n.2106+182261G>A)
c.574G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.184326968G>CCA355413584EIF2B5,EIF4G1c.3413G>C (p.Arg1138Thr)
c.3347G>C (p.Arg1116Thr)
c.2760G>C (n.2760G>C)
c.2819G>C (p.Arg940Thr)
c.3416G>C (p.Arg1139Thr)
c.2921G>C (p.Arg974Thr)
c.3434G>C (p.Arg1145Thr)
c.3152G>C (p.Arg1051Thr)
c.3296G>C (p.Arg1099Thr)
c.3293G>C (p.Arg1098Thr)
c.3155G>C (p.Arg1052Thr)
c.2828G>C (p.Arg943Thr)
c.2825G>C (p.Arg942Thr)
c.2924G>C (p.Arg975Thr)
c.*2852G>C (n.*2852G>C)
c.2106+182261G>C (n.2106+182261G>C)
c.574G>C
3g.184326968G=CA1425957834EIF2B5,EIF4G1c.3413G= (p.Arg1138=)
c.3347G= (p.Arg1116=)
c.2760G= (n.2760G=)
c.2819G= (p.Arg940=)
c.3416G= (p.Arg1139=)
c.2921G= (p.Arg974=)
c.3434G= (p.Arg1145=)
c.3152G= (p.Arg1051=)
c.3296G= (p.Arg1099=)
c.3293G= (p.Arg1098=)
c.3155G= (p.Arg1052=)
c.2828G= (p.Arg943=)
c.2825G= (p.Arg942=)
c.2924G= (p.Arg975=)
c.*2852G= (n.*2852G=)
c.2106+182261G= (n.2106+182261G=)
c.574G=
3g.184326968G>TCA355413586EIF2B5,EIF4G1c.3413G>T (p.Arg1138Ile)
c.3347G>T (p.Arg1116Ile)
c.2760G>T (n.2760G>T)
c.2819G>T (p.Arg940Ile)
c.3416G>T (p.Arg1139Ile)
c.2921G>T (p.Arg974Ile)
c.3434G>T (p.Arg1145Ile)
c.3152G>T (p.Arg1051Ile)
c.3296G>T (p.Arg1099Ile)
c.3293G>T (p.Arg1098Ile)
c.3155G>T (p.Arg1052Ile)
c.2828G>T (p.Arg943Ile)
c.2825G>T (p.Arg942Ile)
c.2924G>T (p.Arg975Ile)
c.*2852G>T (n.*2852G>T)
c.2106+182261G>T (n.2106+182261G>T)
c.574G>T
3g.184326969A>CCA355413591EIF2B5,EIF4G1c.3414A>C (p.Arg1138Ser)
c.3348A>C (p.Arg1116Ser)
c.2761A>C (n.2761A>C)
c.2820A>C (p.Arg940Ser)
c.3417A>C (p.Arg1139Ser)
c.2922A>C (p.Arg974Ser)
c.3435A>C (p.Arg1145Ser)
c.3153A>C (p.Arg1051Ser)
c.3297A>C (p.Arg1099Ser)
c.3294A>C (p.Arg1098Ser)
c.3156A>C (p.Arg1052Ser)
c.2829A>C (p.Arg943Ser)
c.2826A>C (p.Arg942Ser)
c.2925A>C (p.Arg975Ser)
c.*2853A>C (n.*2853A>C)
c.2106+182262A>C (n.2106+182262A>C)
c.575A>C
3g.184326969A>GCA437162156EIF2B5,EIF4G1c.3414A>G (p.Arg1138=)
c.3348A>G (p.Arg1116=)
c.2761A>G (n.2761A>G)
c.2820A>G (p.Arg940=)
c.3417A>G (p.Arg1139=)
c.2922A>G (p.Arg974=)
c.3435A>G (p.Arg1145=)
c.3153A>G (p.Arg1051=)
c.3297A>G (p.Arg1099=)
c.3294A>G (p.Arg1098=)
c.3156A>G (p.Arg1052=)
c.2829A>G (p.Arg943=)
c.2826A>G (p.Arg942=)
c.2925A>G (p.Arg975=)
c.*2853A>G (n.*2853A>G)
c.2106+182262A>G (n.2106+182262A>G)
c.575A>G
3g.184326969A>TCA355413593EIF2B5,EIF4G1c.3414A>T (p.Arg1138Ser)
c.3348A>T (p.Arg1116Ser)
c.2761A>T (n.2761A>T)
c.2820A>T (p.Arg940Ser)
c.3417A>T (p.Arg1139Ser)
c.2922A>T (p.Arg974Ser)
c.3435A>T (p.Arg1145Ser)
c.3153A>T (p.Arg1051Ser)
c.3297A>T (p.Arg1099Ser)
c.3294A>T (p.Arg1098Ser)
c.3156A>T (p.Arg1052Ser)
c.2829A>T (p.Arg943Ser)
c.2826A>T (p.Arg942Ser)
c.2925A>T (p.Arg975Ser)
c.*2853A>T (n.*2853A>T)
c.2106+182262A>T (n.2106+182262A>T)
c.575A>T
3g.184326970C>ACA355413597EIF2B5,EIF4G1c.3415C>A (p.Arg1139Ser)
c.3349C>A (p.Arg1117Ser)
c.2762C>A (n.2762C>A)
c.2821C>A (p.Arg941Ser)
c.3418C>A (p.Arg1140Ser)
c.2923C>A (p.Arg975Ser)
c.3436C>A (p.Arg1146Ser)
c.3154C>A (p.Arg1052Ser)
c.3298C>A (p.Arg1100Ser)
c.3295C>A (p.Arg1099Ser)
c.3157C>A (p.Arg1053Ser)
c.2830C>A (p.Arg944Ser)
c.2827C>A (p.Arg943Ser)
c.2926C>A (p.Arg976Ser)
c.*2854C>A (n.*2854C>A)
c.2106+182263C>A (n.2106+182263C>A)
c.576C>A
3g.184326970C=CA1425957837EIF2B5,EIF4G1c.3415C= (p.Arg1139=)
c.3349C= (p.Arg1117=)
c.2762C= (n.2762C=)
c.2821C= (p.Arg941=)
c.3418C= (p.Arg1140=)
c.2923C= (p.Arg975=)
c.3436C= (p.Arg1146=)
c.3154C= (p.Arg1052=)
c.3298C= (p.Arg1100=)
c.3295C= (p.Arg1099=)
c.3157C= (p.Arg1053=)
c.2830C= (p.Arg944=)
c.2827C= (p.Arg943=)
c.2926C= (p.Arg976=)
c.*2854C= (n.*2854C=)
c.2106+182263C= (n.2106+182263C=)
c.576C=
3g.184326970C>GCA355413600EIF2B5,EIF4G1c.3415C>G (p.Arg1139Gly)
c.3349C>G (p.Arg1117Gly)
c.2762C>G (n.2762C>G)
c.2821C>G (p.Arg941Gly)
c.3418C>G (p.Arg1140Gly)
c.2923C>G (p.Arg975Gly)
c.3436C>G (p.Arg1146Gly)
c.3154C>G (p.Arg1052Gly)
c.3298C>G (p.Arg1100Gly)
c.3295C>G (p.Arg1099Gly)
c.3157C>G (p.Arg1053Gly)
c.2830C>G (p.Arg944Gly)
c.2827C>G (p.Arg943Gly)
c.2926C>G (p.Arg976Gly)
c.*2854C>G (n.*2854C>G)
c.2106+182263C>G (n.2106+182263C>G)
c.576C>G
3g.184326970C>TCA2732780EIF2B5,EIF4G1c.3415C>T (p.Arg1139Cys)
c.3349C>T (p.Arg1117Cys)
c.2762C>T (n.2762C>T)
c.2821C>T (p.Arg941Cys)
c.3418C>T (p.Arg1140Cys)
c.2923C>T (p.Arg975Cys)
c.3436C>T (p.Arg1146Cys)
c.3154C>T (p.Arg1052Cys)
c.3298C>T (p.Arg1100Cys)
c.3295C>T (p.Arg1099Cys)
c.3157C>T (p.Arg1053Cys)
c.2830C>T (p.Arg944Cys)
c.2827C>T (p.Arg943Cys)
c.2926C>T (p.Arg976Cys)
c.*2854C>T (n.*2854C>T)
c.2106+182263C>T (n.2106+182263C>T)
c.576C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.184326971G>ACA355413606EIF2B5,EIF4G1c.3416G>A (p.Arg1139His)
c.3350G>A (p.Arg1117His)
c.2763G>A (n.2763G>A)
c.2822G>A (p.Arg941His)
c.3419G>A (p.Arg1140His)
c.2924G>A (p.Arg975His)
c.3437G>A (p.Arg1146His)
c.3155G>A (p.Arg1052His)
c.3299G>A (p.Arg1100His)
c.3296G>A (p.Arg1099His)
c.3158G>A (p.Arg1053His)
c.2831G>A (p.Arg944His)
c.2828G>A (p.Arg943His)
c.2927G>A (p.Arg976His)
c.*2855G>A (n.*2855G>A)
c.2106+182264G>A (n.2106+182264G>A)
c.577G>A
 dbSNP gnomAD v2 gnomAD v4
3g.184326971G>CCA355413609EIF2B5,EIF4G1c.3416G>C (p.Arg1139Pro)
c.3350G>C (p.Arg1117Pro)
c.2763G>C (n.2763G>C)
c.2822G>C (p.Arg941Pro)
c.3419G>C (p.Arg1140Pro)
c.2924G>C (p.Arg975Pro)
c.3437G>C (p.Arg1146Pro)
c.3155G>C (p.Arg1052Pro)
c.3299G>C (p.Arg1100Pro)
c.3296G>C (p.Arg1099Pro)
c.3158G>C (p.Arg1053Pro)
c.2831G>C (p.Arg944Pro)
c.2828G>C (p.Arg943Pro)
c.2927G>C (p.Arg976Pro)
c.*2855G>C (n.*2855G>C)
c.2106+182264G>C (n.2106+182264G>C)
c.577G>C
3g.184326971G=CA1425957842EIF2B5,EIF4G1c.3416G= (p.Arg1139=)
c.3350G= (p.Arg1117=)
c.2763G= (n.2763G=)
c.2822G= (p.Arg941=)
c.3419G= (p.Arg1140=)
c.2924G= (p.Arg975=)
c.3437G= (p.Arg1146=)
c.3155G= (p.Arg1052=)
c.3299G= (p.Arg1100=)
c.3296G= (p.Arg1099=)
c.3158G= (p.Arg1053=)
c.2831G= (p.Arg944=)
c.2828G= (p.Arg943=)
c.2927G= (p.Arg976=)
c.*2855G= (n.*2855G=)
c.2106+182264G= (n.2106+182264G=)
c.577G=
3g.184326971G>TCA355413611EIF2B5,EIF4G1c.3416G>T (p.Arg1139Leu)
c.3350G>T (p.Arg1117Leu)
c.2763G>T (n.2763G>T)
c.2822G>T (p.Arg941Leu)
c.3419G>T (p.Arg1140Leu)
c.2924G>T (p.Arg975Leu)
c.3437G>T (p.Arg1146Leu)
c.3155G>T (p.Arg1052Leu)
c.3299G>T (p.Arg1100Leu)
c.3296G>T (p.Arg1099Leu)
c.3158G>T (p.Arg1053Leu)
c.2831G>T (p.Arg944Leu)
c.2828G>T (p.Arg943Leu)
c.2927G>T (p.Arg976Leu)
c.*2855G>T (n.*2855G>T)
c.2106+182264G>T (n.2106+182264G>T)
c.577G>T
3g.184326972T>ACA437162160EIF2B5,EIF4G1c.3417T>A (p.Arg1139=)
c.3351T>A (p.Arg1117=)
c.2764T>A (n.2764T>A)
c.2823T>A (p.Arg941=)
c.3420T>A (p.Arg1140=)
c.2925T>A (p.Arg975=)
c.3438T>A (p.Arg1146=)
c.3156T>A (p.Arg1052=)
c.3300T>A (p.Arg1100=)
c.3297T>A (p.Arg1099=)
c.3159T>A (p.Arg1053=)
c.2832T>A (p.Arg944=)
c.2829T>A (p.Arg943=)
c.2928T>A (p.Arg976=)
c.*2856T>A (n.*2856T>A)
c.2106+182265T>A (n.2106+182265T>A)
c.578T>A
3g.184326972T>CCA437162161EIF2B5,EIF4G1c.3417T>C (p.Arg1139=)
c.3351T>C (p.Arg1117=)
c.2764T>C (n.2764T>C)
c.2823T>C (p.Arg941=)
c.3420T>C (p.Arg1140=)
c.2925T>C (p.Arg975=)
c.3438T>C (p.Arg1146=)
c.3156T>C (p.Arg1052=)
c.3300T>C (p.Arg1100=)
c.3297T>C (p.Arg1099=)
c.3159T>C (p.Arg1053=)
c.2832T>C (p.Arg944=)
c.2829T>C (p.Arg943=)
c.2928T>C (p.Arg976=)
c.*2856T>C (n.*2856T>C)
c.2106+182265T>C (n.2106+182265T>C)
c.578T>C
3g.184326972T>GCA2732781EIF2B5,EIF4G1c.3417T>G (p.Arg1139=)
c.3351T>G (p.Arg1117=)
c.2764T>G (n.2764T>G)
c.2823T>G (p.Arg941=)
c.3420T>G (p.Arg1140=)
c.2925T>G (p.Arg975=)
c.3438T>G (p.Arg1146=)
c.3156T>G (p.Arg1052=)
c.3300T>G (p.Arg1100=)
c.3297T>G (p.Arg1099=)
c.3159T>G (p.Arg1053=)
c.2832T>G (p.Arg944=)
c.2829T>G (p.Arg943=)
c.2928T>G (p.Arg976=)
c.*2856T>G (n.*2856T>G)
c.2106+182265T>G (n.2106+182265T>G)
c.578T>G
 dbSNP ExAC gnomAD v2
3g.184326972T=CA1425957846EIF2B5,EIF4G1c.3417T= (p.Arg1139=)
c.3351T= (p.Arg1117=)
c.2764T= (n.2764T=)
c.2823T= (p.Arg941=)
c.3420T= (p.Arg1140=)
c.2925T= (p.Arg975=)
c.3438T= (p.Arg1146=)
c.3156T= (p.Arg1052=)
c.3300T= (p.Arg1100=)
c.3297T= (p.Arg1099=)
c.3159T= (p.Arg1053=)
c.2832T= (p.Arg944=)
c.2829T= (p.Arg943=)
c.2928T= (p.Arg976=)
c.*2856T= (n.*2856T=)
c.2106+182265T= (n.2106+182265T=)
c.578T=
3g.184326973G>ACA2732783EIF2B5,EIF4G1c.3418G>A (p.Val1140Met)
c.3352G>A (p.Val1118Met)
c.2765G>A (n.2765G>A)
c.2824G>A (p.Val942Met)
c.3421G>A (p.Val1141Met)
c.2926G>A (p.Val976Met)
c.3439G>A (p.Val1147Met)
c.3157G>A (p.Val1053Met)
c.3301G>A (p.Val1101Met)
c.3298G>A (p.Val1100Met)
c.3160G>A (p.Val1054Met)
c.2833G>A (p.Val945Met)
c.2830G>A (p.Val944Met)
c.2929G>A (p.Val977Met)
c.*2857G>A (n.*2857G>A)
c.2106+182266G>A (n.2106+182266G>A)
c.579G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.184326973G>CCA2732782EIF2B5,EIF4G1c.3418G>C (p.Val1140Leu)
c.3352G>C (p.Val1118Leu)
c.2765G>C (n.2765G>C)
c.2824G>C (p.Val942Leu)
c.3421G>C (p.Val1141Leu)
c.2926G>C (p.Val976Leu)
c.3439G>C (p.Val1147Leu)
c.3157G>C (p.Val1053Leu)
c.3301G>C (p.Val1101Leu)
c.3298G>C (p.Val1100Leu)
c.3160G>C (p.Val1054Leu)
c.2833G>C (p.Val945Leu)
c.2830G>C (p.Val944Leu)
c.2929G>C (p.Val977Leu)
c.*2857G>C (n.*2857G>C)
c.2106+182266G>C (n.2106+182266G>C)
c.579G>C
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.184326973G=CA1425957849EIF2B5,EIF4G1c.3418G= (p.Val1140=)
c.3352G= (p.Val1118=)
c.2765G= (n.2765G=)
c.2824G= (p.Val942=)
c.3421G= (p.Val1141=)
c.2926G= (p.Val976=)
c.3439G= (p.Val1147=)
c.3157G= (p.Val1053=)
c.3301G= (p.Val1101=)
c.3298G= (p.Val1100=)
c.3160G= (p.Val1054=)
c.2833G= (p.Val945=)
c.2830G= (p.Val944=)
c.2929G= (p.Val977=)
c.*2857G= (n.*2857G=)
c.2106+182266G= (n.2106+182266G=)
c.579G=
3g.184326973G>TCA355413621EIF2B5,EIF4G1c.3418G>T (p.Val1140Leu)
c.3352G>T (p.Val1118Leu)
c.2765G>T (n.2765G>T)
c.2824G>T (p.Val942Leu)
c.3421G>T (p.Val1141Leu)
c.2926G>T (p.Val976Leu)
c.3439G>T (p.Val1147Leu)
c.3157G>T (p.Val1053Leu)
c.3301G>T (p.Val1101Leu)
c.3298G>T (p.Val1100Leu)
c.3160G>T (p.Val1054Leu)
c.2833G>T (p.Val945Leu)
c.2830G>T (p.Val944Leu)
c.2929G>T (p.Val977Leu)
c.*2857G>T (n.*2857G>T)
c.2106+182266G>T (n.2106+182266G>T)
c.579G>T
3g.184326974T>ACA355413625EIF2B5,EIF4G1c.3419T>A (p.Val1140Glu)
c.3353T>A (p.Val1118Glu)
c.2766T>A (n.2766T>A)
c.2825T>A (p.Val942Glu)
c.3422T>A (p.Val1141Glu)
c.2927T>A (p.Val976Glu)
c.3440T>A (p.Val1147Glu)
c.3158T>A (p.Val1053Glu)
c.3302T>A (p.Val1101Glu)
c.3299T>A (p.Val1100Glu)
c.3161T>A (p.Val1054Glu)
c.2834T>A (p.Val945Glu)
c.2831T>A (p.Val944Glu)
c.2930T>A (p.Val977Glu)
c.*2858T>A (n.*2858T>A)
c.2106+182267T>A (n.2106+182267T>A)
c.580T>A
3g.184326974T>CCA355413628EIF2B5,EIF4G1c.3419T>C (p.Val1140Ala)
c.3353T>C (p.Val1118Ala)
c.2766T>C (n.2766T>C)
c.2825T>C (p.Val942Ala)
c.3422T>C (p.Val1141Ala)
c.2927T>C (p.Val976Ala)
c.3440T>C (p.Val1147Ala)
c.3158T>C (p.Val1053Ala)
c.3302T>C (p.Val1101Ala)
c.3299T>C (p.Val1100Ala)
c.3161T>C (p.Val1054Ala)
c.2834T>C (p.Val945Ala)
c.2831T>C (p.Val944Ala)
c.2930T>C (p.Val977Ala)
c.*2858T>C (n.*2858T>C)
c.2106+182267T>C (n.2106+182267T>C)
c.580T>C
3g.184326974T>GCA355413630EIF2B5,EIF4G1c.3419T>G (p.Val1140Gly)
c.3353T>G (p.Val1118Gly)
c.2766T>G (n.2766T>G)
c.2825T>G (p.Val942Gly)
c.3422T>G (p.Val1141Gly)
c.2927T>G (p.Val976Gly)
c.3440T>G (p.Val1147Gly)
c.3158T>G (p.Val1053Gly)
c.3302T>G (p.Val1101Gly)
c.3299T>G (p.Val1100Gly)
c.3161T>G (p.Val1054Gly)
c.2834T>G (p.Val945Gly)
c.2831T>G (p.Val944Gly)
c.2930T>G (p.Val977Gly)
c.*2858T>G (n.*2858T>G)
c.2106+182267T>G (n.2106+182267T>G)
c.580T>G
3g.184326975G>ACA437162163EIF2B5,EIF4G1c.3420G>A (p.Val1140=)
c.3354G>A (p.Val1118=)
c.2767G>A (n.2767G>A)
c.2826G>A (p.Val942=)
c.3423G>A (p.Val1141=)
c.2928G>A (p.Val976=)
c.3441G>A (p.Val1147=)
c.3159G>A (p.Val1053=)
c.3303G>A (p.Val1101=)
c.3300G>A (p.Val1100=)
c.3162G>A (p.Val1054=)
c.2835G>A (p.Val945=)
c.2832G>A (p.Val944=)
c.2931G>A (p.Val977=)
c.*2859G>A (n.*2859G>A)
c.2106+182268G>A (n.2106+182268G>A)
c.581G>A
3g.184326975G>CCA437162164EIF2B5,EIF4G1c.3420G>C (p.Val1140=)
c.3354G>C (p.Val1118=)
c.2767G>C (n.2767G>C)
c.2826G>C (p.Val942=)
c.3423G>C (p.Val1141=)
c.2928G>C (p.Val976=)
c.3441G>C (p.Val1147=)
c.3159G>C (p.Val1053=)
c.3303G>C (p.Val1101=)
c.3300G>C (p.Val1100=)
c.3162G>C (p.Val1054=)
c.2835G>C (p.Val945=)
c.2832G>C (p.Val944=)
c.2931G>C (p.Val977=)
c.*2859G>C (n.*2859G>C)
c.2106+182268G>C (n.2106+182268G>C)
c.581G>C
 dbSNP
3g.184326975G>TCA437162165EIF2B5,EIF4G1c.3420G>T (p.Val1140=)
c.3354G>T (p.Val1118=)
c.2767G>T (n.2767G>T)
c.2826G>T (p.Val942=)
c.3423G>T (p.Val1141=)
c.2928G>T (p.Val976=)
c.3441G>T (p.Val1147=)
c.3159G>T (p.Val1053=)
c.3303G>T (p.Val1101=)
c.3300G>T (p.Val1100=)
c.3162G>T (p.Val1054=)
c.2835G>T (p.Val945=)
c.2832G>T (p.Val944=)
c.2931G>T (p.Val977=)
c.*2859G>T (n.*2859G>T)
c.2106+182268G>T (n.2106+182268G>T)
c.581G>T
3g.184326976delCA2668839650EIF2B5,EIF4G1c.3421del (p.Val1141CysfsTer6)
c.3355del (p.Val1119CysfsTer6)
c.2768del (n.2768del)
c.2827del (p.Val943CysfsTer6)
c.3424del (p.Val1142CysfsTer6)
c.2929del (p.Val977CysfsTer6)
c.3442del (p.Val1148CysfsTer6)
c.3160del (p.Val1054CysfsTer6)
c.3304del (p.Val1102CysfsTer6)
c.3301del (p.Val1101CysfsTer6)
c.3163del (p.Val1055CysfsTer6)
c.2836del (p.Val946CysfsTer6)
c.2833del (p.Val945CysfsTer6)
c.2932del (p.Val978CysfsTer6)
c.*2860del (n.*2860del)
c.2106+182269del (n.2106+182269del)
c.582del
 gnomAD v4
3g.184326976G>ACA2732784EIF2B5,EIF4G1c.3421G>A (p.Val1141Met)
c.3355G>A (p.Val1119Met)
c.2768G>A (n.2768G>A)
c.2827G>A (p.Val943Met)
c.3424G>A (p.Val1142Met)
c.2929G>A (p.Val977Met)
c.3442G>A (p.Val1148Met)
c.3160G>A (p.Val1054Met)
c.3304G>A (p.Val1102Met)
c.3301G>A (p.Val1101Met)
c.3163G>A (p.Val1055Met)
c.2836G>A (p.Val946Met)
c.2833G>A (p.Val945Met)
c.2932G>A (p.Val978Met)
c.*2860G>A (n.*2860G>A)
c.2106+182269G>A (n.2106+182269G>A)
c.582G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.184326976G>CCA355413639EIF2B5,EIF4G1c.3421G>C (p.Val1141Leu)
c.3355G>C (p.Val1119Leu)
c.2768G>C (n.2768G>C)
c.2827G>C (p.Val943Leu)
c.3424G>C (p.Val1142Leu)
c.2929G>C (p.Val977Leu)
c.3442G>C (p.Val1148Leu)
c.3160G>C (p.Val1054Leu)
c.3304G>C (p.Val1102Leu)
c.3301G>C (p.Val1101Leu)
c.3163G>C (p.Val1055Leu)
c.2836G>C (p.Val946Leu)
c.2833G>C (p.Val945Leu)
c.2932G>C (p.Val978Leu)
c.*2860G>C (n.*2860G>C)
c.2106+182269G>C (n.2106+182269G>C)
c.582G>C
 dbSNP gnomAD v2 gnomAD v4
3g.184326976G=CA1425957852EIF2B5,EIF4G1c.3421G= (p.Val1141=)
c.3355G= (p.Val1119=)
c.2768G= (n.2768G=)
c.2827G= (p.Val943=)
c.3424G= (p.Val1142=)
c.2929G= (p.Val977=)
c.3442G= (p.Val1148=)
c.3160G= (p.Val1054=)
c.3304G= (p.Val1102=)
c.3301G= (p.Val1101=)
c.3163G= (p.Val1055=)
c.2836G= (p.Val946=)
c.2833G= (p.Val945=)
c.2932G= (p.Val978=)
c.*2860G= (n.*2860G=)
c.2106+182269G= (n.2106+182269G=)
c.582G=
3g.184326976G>TCA355413635EIF2B5,EIF4G1c.3421G>T (p.Val1141Leu)
c.3355G>T (p.Val1119Leu)
c.2768G>T (n.2768G>T)
c.2827G>T (p.Val943Leu)
c.3424G>T (p.Val1142Leu)
c.2929G>T (p.Val977Leu)
c.3442G>T (p.Val1148Leu)
c.3160G>T (p.Val1054Leu)
c.3304G>T (p.Val1102Leu)
c.3301G>T (p.Val1101Leu)
c.3163G>T (p.Val1055Leu)
c.2836G>T (p.Val946Leu)
c.2833G>T (p.Val945Leu)
c.2932G>T (p.Val978Leu)
c.*2860G>T (n.*2860G>T)
c.2106+182269G>T (n.2106+182269G>T)
c.582G>T
 gnomAD v4
3g.184326977T>ACA355413643EIF2B5,EIF4G1c.3422T>A (p.Val1141Glu)
c.3356T>A (p.Val1119Glu)
c.2769T>A (n.2769T>A)
c.2828T>A (p.Val943Glu)
c.3425T>A (p.Val1142Glu)
c.2930T>A (p.Val977Glu)
c.3443T>A (p.Val1148Glu)
c.3161T>A (p.Val1054Glu)
c.3305T>A (p.Val1102Glu)
c.3302T>A (p.Val1101Glu)
c.3164T>A (p.Val1055Glu)
c.2837T>A (p.Val946Glu)
c.2834T>A (p.Val945Glu)
c.2933T>A (p.Val978Glu)
c.*2861T>A (n.*2861T>A)
c.2106+182270T>A (n.2106+182270T>A)
c.583T>A
 gnomAD v4
3g.184326977T>CCA2732785EIF2B5,EIF4G1c.3422T>C (p.Val1141Ala)
c.3356T>C (p.Val1119Ala)
c.2769T>C (n.2769T>C)
c.2828T>C (p.Val943Ala)
c.3425T>C (p.Val1142Ala)
c.2930T>C (p.Val977Ala)
c.3443T>C (p.Val1148Ala)
c.3161T>C (p.Val1054Ala)
c.3305T>C (p.Val1102Ala)
c.3302T>C (p.Val1101Ala)
c.3164T>C (p.Val1055Ala)
c.2837T>C (p.Val946Ala)
c.2834T>C (p.Val945Ala)
c.2933T>C (p.Val978Ala)
c.*2861T>C (n.*2861T>C)
c.2106+182270T>C (n.2106+182270T>C)
c.583T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.184326977T>GCA355413647EIF2B5,EIF4G1c.3422T>G (p.Val1141Gly)
c.3356T>G (p.Val1119Gly)
c.2769T>G (n.2769T>G)
c.2828T>G (p.Val943Gly)
c.3425T>G (p.Val1142Gly)
c.2930T>G (p.Val977Gly)
c.3443T>G (p.Val1148Gly)
c.3161T>G (p.Val1054Gly)
c.3305T>G (p.Val1102Gly)
c.3302T>G (p.Val1101Gly)
c.3164T>G (p.Val1055Gly)
c.2837T>G (p.Val946Gly)
c.2834T>G (p.Val945Gly)
c.2933T>G (p.Val978Gly)
c.*2861T>G (n.*2861T>G)
c.2106+182270T>G (n.2106+182270T>G)
c.583T>G
3g.184326977T=CA1425957856EIF2B5,EIF4G1c.3422T= (p.Val1141=)
c.3356T= (p.Val1119=)
c.2769T= (n.2769T=)
c.2828T= (p.Val943=)
c.3425T= (p.Val1142=)
c.2930T= (p.Val977=)
c.3443T= (p.Val1148=)
c.3161T= (p.Val1054=)
c.3305T= (p.Val1102=)
c.3302T= (p.Val1101=)
c.3164T= (p.Val1055=)
c.2837T= (p.Val946=)
c.2834T= (p.Val945=)
c.2933T= (p.Val978=)
c.*2861T= (n.*2861T=)
c.2106+182270T= (n.2106+182270T=)
c.583T=
3g.184326978G>ACA437162169EIF2B5,EIF4G1c.3423G>A (p.Val1141=)
c.3357G>A (p.Val1119=)
c.2770G>A (n.2770G>A)
c.2829G>A (p.Val943=)
c.3426G>A (p.Val1142=)
c.2931G>A (p.Val977=)
c.3444G>A (p.Val1148=)
c.3162G>A (p.Val1054=)
c.3306G>A (p.Val1102=)
c.3303G>A (p.Val1101=)
c.3165G>A (p.Val1055=)
c.2838G>A (p.Val946=)
c.2835G>A (p.Val945=)
c.2934G>A (p.Val978=)
c.*2862G>A (n.*2862G>A)
c.2106+182271G>A (n.2106+182271G>A)
c.584G>A
 gnomAD v4
3g.184326978G>CCA437162171EIF2B5,EIF4G1c.3423G>C (p.Val1141=)
c.3357G>C (p.Val1119=)
c.2770G>C (n.2770G>C)
c.2829G>C (p.Val943=)
c.3426G>C (p.Val1142=)
c.2931G>C (p.Val977=)
c.3444G>C (p.Val1148=)
c.3162G>C (p.Val1054=)
c.3306G>C (p.Val1102=)
c.3303G>C (p.Val1101=)
c.3165G>C (p.Val1055=)
c.2838G>C (p.Val946=)
c.2835G>C (p.Val945=)
c.2934G>C (p.Val978=)
c.*2862G>C (n.*2862G>C)
c.2106+182271G>C (n.2106+182271G>C)
c.584G>C
3g.184326978G=CA1425957858EIF2B5,EIF4G1c.3423G= (p.Val1141=)
c.3357G= (p.Val1119=)
c.2770G= (n.2770G=)
c.2829G= (p.Val943=)
c.3426G= (p.Val1142=)
c.2931G= (p.Val977=)
c.3444G= (p.Val1148=)
c.3162G= (p.Val1054=)
c.3306G= (p.Val1102=)
c.3303G= (p.Val1101=)
c.3165G= (p.Val1055=)
c.2838G= (p.Val946=)
c.2835G= (p.Val945=)
c.2934G= (p.Val978=)
c.*2862G= (n.*2862G=)
c.2106+182271G= (n.2106+182271G=)
c.584G=
3g.184326978G>TCA437162170EIF2B5,EIF4G1c.3423G>T (p.Val1141=)
c.3357G>T (p.Val1119=)
c.2770G>T (n.2770G>T)
c.2829G>T (p.Val943=)
c.3426G>T (p.Val1142=)
c.2931G>T (p.Val977=)
c.3444G>T (p.Val1148=)
c.3162G>T (p.Val1054=)
c.3306G>T (p.Val1102=)
c.3303G>T (p.Val1101=)
c.3165G>T (p.Val1055=)
c.2838G>T (p.Val946=)
c.2835G>T (p.Val945=)
c.2934G>T (p.Val978=)
c.*2862G>T (n.*2862G>T)
c.2106+182271G>T (n.2106+182271G>T)
c.584G>T
3g.184326978_184326979insGCCATTCACTACCTGTTTGGTTGCATATGGTGGTGCTGGCCAAGGGACTCA917083373EIF2B5,EIF4G1c.3423_3424insGCCATTCACTACCTGTTTGGTTGCATATGGTGGTGCTGGCCAAGGGACT (p.Gln1142AlafsTer20)
c.3357_3358insGCCATTCACTACCTGTTTGGTTGCATATGGTGGTGCTGGCCAAGGGACT (p.Gln1120AlafsTer20)
c.2770_2771insGCCATTCACTACCTGTTTGGTTGCATATGGTGGTGCTGGCCAAGGGACT (n.2770_2771insGCCATTCACTACCTGTTTGGTTGCATATGGTGGTGCTGGCCAAGGGACT)
c.2829_2830insGCCATTCACTACCTGTTTGGTTGCATATGGTGGTGCTGGCCAAGGGACT (p.Gln944AlafsTer20)
c.3426_3427insGCCATTCACTACCTGTTTGGTTGCATATGGTGGTGCTGGCCAAGGGACT (p.Gln1143AlafsTer20)
c.2931_2932insGCCATTCACTACCTGTTTGGTTGCATATGGTGGTGCTGGCCAAGGGACT (p.Gln978AlafsTer20)
c.3444_3445insGCCATTCACTACCTGTTTGGTTGCATATGGTGGTGCTGGCCAAGGGACT (p.Gln1149AlafsTer20)
c.3162_3163insGCCATTCACTACCTGTTTGGTTGCATATGGTGGTGCTGGCCAAGGGACT (p.Gln1055AlafsTer20)
c.3306_3307insGCCATTCACTACCTGTTTGGTTGCATATGGTGGTGCTGGCCAAGGGACT (p.Gln1103AlafsTer20)
c.3303_3304insGCCATTCACTACCTGTTTGGTTGCATATGGTGGTGCTGGCCAAGGGACT (p.Gln1102AlafsTer20)
c.3165_3166insGCCATTCACTACCTGTTTGGTTGCATATGGTGGTGCTGGCCAAGGGACT (p.Gln1056AlafsTer20)
c.2838_2839insGCCATTCACTACCTGTTTGGTTGCATATGGTGGTGCTGGCCAAGGGACT (p.Gln947AlafsTer20)
c.2835_2836insGCCATTCACTACCTGTTTGGTTGCATATGGTGGTGCTGGCCAAGGGACT (p.Gln946AlafsTer20)
c.2934_2935insGCCATTCACTACCTGTTTGGTTGCATATGGTGGTGCTGGCCAAGGGACT (p.Gln979AlafsTer20)
c.*2862_*2863insGCCATTCACTACCTGTTTGGTTGCATATGGTGGTGCTGGCCAAGGGACT (n.*2862_*2863insGCCATTCACTACCTGTTTGGTTGCATATGGTGGTGCTGGCCAAGGGACT)
c.2106+182271_2106+182272insGCCATTCACTACCTGTTTGGTTGCATATGGTGGTGCTGGCCAAGGGACT (n.2106+182271_2106+182272insGCCATTCACTACCTGTTTGGTTGCATATGGTGGTGCTGGCCAAGGGACT)
c.584_585insGCCATTCACTACCTGTTTGGTTGCATATGGTGGTGCTGGCCAAGGGACT
 dbSNP
3g.184326979C>ACA355413648EIF2B5,EIF4G1c.3424C>A (p.Gln1142Lys)
c.3358C>A (p.Gln1120Lys)
c.2771C>A (n.2771C>A)
c.2830C>A (p.Gln944Lys)
c.3427C>A (p.Gln1143Lys)
c.2932C>A (p.Gln978Lys)
c.3445C>A (p.Gln1149Lys)
c.3163C>A (p.Gln1055Lys)
c.3307C>A (p.Gln1103Lys)
c.3304C>A (p.Gln1102Lys)
c.3166C>A (p.Gln1056Lys)
c.2839C>A (p.Gln947Lys)
c.2836C>A (p.Gln946Lys)
c.2935C>A (p.Gln979Lys)
c.*2863C>A (n.*2863C>A)
c.2106+182272C>A (n.2106+182272C>A)
c.585C>A
3g.184326979C>GCA355413650EIF2B5,EIF4G1c.3424C>G (p.Gln1142Glu)
c.3358C>G (p.Gln1120Glu)
c.2771C>G (n.2771C>G)
c.2830C>G (p.Gln944Glu)
c.3427C>G (p.Gln1143Glu)
c.2932C>G (p.Gln978Glu)
c.3445C>G (p.Gln1149Glu)
c.3163C>G (p.Gln1055Glu)
c.3307C>G (p.Gln1103Glu)
c.3304C>G (p.Gln1102Glu)
c.3166C>G (p.Gln1056Glu)
c.2839C>G (p.Gln947Glu)
c.2836C>G (p.Gln946Glu)
c.2935C>G (p.Gln979Glu)
c.*2863C>G (n.*2863C>G)
c.2106+182272C>G (n.2106+182272C>G)
c.585C>G
3g.184326979C>TCA355413649EIF2B5,EIF4G1c.3424C>T (p.Gln1142Ter)
c.3358C>T (p.Gln1120Ter)
c.2771C>T (n.2771C>T)
c.2830C>T (p.Gln944Ter)
c.3427C>T (p.Gln1143Ter)
c.2932C>T (p.Gln978Ter)
c.3445C>T (p.Gln1149Ter)
c.3163C>T (p.Gln1055Ter)
c.3307C>T (p.Gln1103Ter)
c.3304C>T (p.Gln1102Ter)
c.3166C>T (p.Gln1056Ter)
c.2839C>T (p.Gln947Ter)
c.2836C>T (p.Gln946Ter)
c.2935C>T (p.Gln979Ter)
c.*2863C>T (n.*2863C>T)
c.2106+182272C>T (n.2106+182272C>T)
c.585C>T
3g.184326980A=CA1425957861EIF2B5,EIF4G1c.3425A= (p.Gln1142=)
c.3359A= (p.Gln1120=)
c.2772A= (n.2772A=)
c.2831A= (p.Gln944=)
c.3428A= (p.Gln1143=)
c.2933A= (p.Gln978=)
c.3446A= (p.Gln1149=)
c.3164A= (p.Gln1055=)
c.3308A= (p.Gln1103=)
c.3305A= (p.Gln1102=)
c.3167A= (p.Gln1056=)
c.2840A= (p.Gln947=)
c.2837A= (p.Gln946=)
c.2936A= (p.Gln979=)
c.*2864A= (n.*2864A=)
c.2106+182273A= (n.2106+182273A=)
c.586A=
3g.184326980A>CCA355413653EIF2B5,EIF4G1c.3425A>C (p.Gln1142Pro)
c.3359A>C (p.Gln1120Pro)
c.2772A>C (n.2772A>C)
c.2831A>C (p.Gln944Pro)
c.3428A>C (p.Gln1143Pro)
c.2933A>C (p.Gln978Pro)
c.3446A>C (p.Gln1149Pro)
c.3164A>C (p.Gln1055Pro)
c.3308A>C (p.Gln1103Pro)
c.3305A>C (p.Gln1102Pro)
c.3167A>C (p.Gln1056Pro)
c.2840A>C (p.Gln947Pro)
c.2837A>C (p.Gln946Pro)
c.2936A>C (p.Gln979Pro)
c.*2864A>C (n.*2864A>C)
c.2106+182273A>C (n.2106+182273A>C)
c.586A>C
3g.184326980A>GCA88867291EIF2B5,EIF4G1c.3425A>G (p.Gln1142Arg)
c.3359A>G (p.Gln1120Arg)
c.2772A>G (n.2772A>G)
c.2831A>G (p.Gln944Arg)
c.3428A>G (p.Gln1143Arg)
c.2933A>G (p.Gln978Arg)
c.3446A>G (p.Gln1149Arg)
c.3164A>G (p.Gln1055Arg)
c.3308A>G (p.Gln1103Arg)
c.3305A>G (p.Gln1102Arg)
c.3167A>G (p.Gln1056Arg)
c.2840A>G (p.Gln947Arg)
c.2837A>G (p.Gln946Arg)
c.2936A>G (p.Gln979Arg)
c.*2864A>G (n.*2864A>G)
c.2106+182273A>G (n.2106+182273A>G)
c.586A>G
 dbSNP gnomAD v3 gnomAD v4
3g.184326980A>TCA355413656EIF2B5,EIF4G1c.3425A>T (p.Gln1142Leu)
c.3359A>T (p.Gln1120Leu)
c.2772A>T (n.2772A>T)
c.2831A>T (p.Gln944Leu)
c.3428A>T (p.Gln1143Leu)
c.2933A>T (p.Gln978Leu)
c.3446A>T (p.Gln1149Leu)
c.3164A>T (p.Gln1055Leu)
c.3308A>T (p.Gln1103Leu)
c.3305A>T (p.Gln1102Leu)
c.3167A>T (p.Gln1056Leu)
c.2840A>T (p.Gln947Leu)
c.2837A>T (p.Gln946Leu)
c.2936A>T (p.Gln979Leu)
c.*2864A>T (n.*2864A>T)
c.2106+182273A>T (n.2106+182273A>T)
c.586A>T
3g.184326981G>ACA437162173EIF2B5,EIF4G1c.3426G>A (p.Gln1142=)
c.3360G>A (p.Gln1120=)
c.2773G>A (n.2773G>A)
c.2832G>A (p.Gln944=)
c.3429G>A (p.Gln1143=)
c.2934G>A (p.Gln978=)
c.3447G>A (p.Gln1149=)
c.3165G>A (p.Gln1055=)
c.3309G>A (p.Gln1103=)
c.3306G>A (p.Gln1102=)
c.3168G>A (p.Gln1056=)
c.2841G>A (p.Gln947=)
c.2838G>A (p.Gln946=)
c.2937G>A (p.Gln979=)
c.*2865G>A (n.*2865G>A)
c.2106+182274G>A (n.2106+182274G>A)
c.587G>A
3g.184326981G>CCA355413662EIF2B5,EIF4G1c.3426G>C (p.Gln1142His)
c.3360G>C (p.Gln1120His)
c.2773G>C (n.2773G>C)
c.2832G>C (p.Gln944His)
c.3429G>C (p.Gln1143His)
c.2934G>C (p.Gln978His)
c.3447G>C (p.Gln1149His)
c.3165G>C (p.Gln1055His)
c.3309G>C (p.Gln1103His)
c.3306G>C (p.Gln1102His)
c.3168G>C (p.Gln1056His)
c.2841G>C (p.Gln947His)
c.2838G>C (p.Gln946His)
c.2937G>C (p.Gln979His)
c.*2865G>C (n.*2865G>C)
c.2106+182274G>C (n.2106+182274G>C)
c.587G>C
3g.184326981G>TCA355413668EIF2B5,EIF4G1c.3426G>T (p.Gln1142His)
c.3360G>T (p.Gln1120His)
c.2773G>T (n.2773G>T)
c.2832G>T (p.Gln944His)
c.3429G>T (p.Gln1143His)
c.2934G>T (p.Gln978His)
c.3447G>T (p.Gln1149His)
c.3165G>T (p.Gln1055His)
c.3309G>T (p.Gln1103His)
c.3306G>T (p.Gln1102His)
c.3168G>T (p.Gln1056His)
c.2841G>T (p.Gln947His)
c.2838G>T (p.Gln946His)
c.2937G>T (p.Gln979His)
c.*2865G>T (n.*2865G>T)
c.2106+182274G>T (n.2106+182274G>T)
c.587G>T

Number of alleles fetched