Chr Mutation (hg38) CAid Gene Transcript Linkouts
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
3g.184326982A=CA1425957864EIF2B5,EIF4G1c.3427A= (p.Arg1143=)
c.3361A= (p.Arg1121=)
c.2774A= (n.2774A=)
c.2833A= (p.Arg945=)
c.3430A= (p.Arg1144=)
c.2935A= (p.Arg979=)
c.3448A= (p.Arg1150=)
c.3166A= (p.Arg1056=)
c.3310A= (p.Arg1104=)
c.3307A= (p.Arg1103=)
c.3169A= (p.Arg1057=)
c.2842A= (p.Arg948=)
c.2839A= (p.Arg947=)
c.2938A= (p.Arg980=)
c.*2866A= (n.*2866A=)
c.2106+182275A= (n.2106+182275A=)
c.588A=
3g.184326982A>CCA2732786EIF2B5,EIF4G1c.3427A>C (p.Arg1143=)
c.3361A>C (p.Arg1121=)
c.2774A>C (n.2774A>C)
c.2833A>C (p.Arg945=)
c.3430A>C (p.Arg1144=)
c.2935A>C (p.Arg979=)
c.3448A>C (p.Arg1150=)
c.3166A>C (p.Arg1056=)
c.3310A>C (p.Arg1104=)
c.3307A>C (p.Arg1103=)
c.3169A>C (p.Arg1057=)
c.2842A>C (p.Arg948=)
c.2839A>C (p.Arg947=)
c.2938A>C (p.Arg980=)
c.*2866A>C (n.*2866A>C)
c.2106+182275A>C (n.2106+182275A>C)
c.588A>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.184326982A>GCA355413670EIF2B5,EIF4G1c.3427A>G (p.Arg1143Gly)
c.3361A>G (p.Arg1121Gly)
c.2774A>G (n.2774A>G)
c.2833A>G (p.Arg945Gly)
c.3430A>G (p.Arg1144Gly)
c.2935A>G (p.Arg979Gly)
c.3448A>G (p.Arg1150Gly)
c.3166A>G (p.Arg1056Gly)
c.3310A>G (p.Arg1104Gly)
c.3307A>G (p.Arg1103Gly)
c.3169A>G (p.Arg1057Gly)
c.2842A>G (p.Arg948Gly)
c.2839A>G (p.Arg947Gly)
c.2938A>G (p.Arg980Gly)
c.*2866A>G (n.*2866A>G)
c.2106+182275A>G (n.2106+182275A>G)
c.588A>G
3g.184326982A>TCA355413672EIF2B5,EIF4G1c.3427A>T (p.Arg1143Trp)
c.3361A>T (p.Arg1121Trp)
c.2774A>T (n.2774A>T)
c.2833A>T (p.Arg945Trp)
c.3430A>T (p.Arg1144Trp)
c.2935A>T (p.Arg979Trp)
c.3448A>T (p.Arg1150Trp)
c.3166A>T (p.Arg1056Trp)
c.3310A>T (p.Arg1104Trp)
c.3307A>T (p.Arg1103Trp)
c.3169A>T (p.Arg1057Trp)
c.2842A>T (p.Arg948Trp)
c.2839A>T (p.Arg947Trp)
c.2938A>T (p.Arg980Trp)
c.*2866A>T (n.*2866A>T)
c.2106+182275A>T (n.2106+182275A>T)
c.588A>T
3g.184326983G>ACA355413673EIF2B5,EIF4G1c.3428G>A (p.Arg1143Lys)
c.3362G>A (p.Arg1121Lys)
c.2775G>A (n.2775G>A)
c.2834G>A (p.Arg945Lys)
c.3431G>A (p.Arg1144Lys)
c.2936G>A (p.Arg979Lys)
c.3449G>A (p.Arg1150Lys)
c.3167G>A (p.Arg1056Lys)
c.3311G>A (p.Arg1104Lys)
c.3308G>A (p.Arg1103Lys)
c.3170G>A (p.Arg1057Lys)
c.2843G>A (p.Arg948Lys)
c.2840G>A (p.Arg947Lys)
c.2939G>A (p.Arg980Lys)
c.*2867G>A (n.*2867G>A)
c.2106+182276G>A (n.2106+182276G>A)
c.589G>A
3g.184326983G>CCA355413675EIF2B5,EIF4G1c.3428G>C (p.Arg1143Thr)
c.3362G>C (p.Arg1121Thr)
c.2775G>C (n.2775G>C)
c.2834G>C (p.Arg945Thr)
c.3431G>C (p.Arg1144Thr)
c.2936G>C (p.Arg979Thr)
c.3449G>C (p.Arg1150Thr)
c.3167G>C (p.Arg1056Thr)
c.3311G>C (p.Arg1104Thr)
c.3308G>C (p.Arg1103Thr)
c.3170G>C (p.Arg1057Thr)
c.2843G>C (p.Arg948Thr)
c.2840G>C (p.Arg947Thr)
c.2939G>C (p.Arg980Thr)
c.*2867G>C (n.*2867G>C)
c.2106+182276G>C (n.2106+182276G>C)
c.589G>C
3g.184326983G>TCA355413678EIF2B5,EIF4G1c.3428G>T (p.Arg1143Met)
c.3362G>T (p.Arg1121Met)
c.2775G>T (n.2775G>T)
c.2834G>T (p.Arg945Met)
c.3431G>T (p.Arg1144Met)
c.2936G>T (p.Arg979Met)
c.3449G>T (p.Arg1150Met)
c.3167G>T (p.Arg1056Met)
c.3311G>T (p.Arg1104Met)
c.3308G>T (p.Arg1103Met)
c.3170G>T (p.Arg1057Met)
c.2843G>T (p.Arg948Met)
c.2840G>T (p.Arg947Met)
c.2939G>T (p.Arg980Met)
c.*2867G>T (n.*2867G>T)
c.2106+182276G>T (n.2106+182276G>T)
c.589G>T
 COSMIC
3g.184326984G>ACA355413681EIF2B5,EIF4G1c.3428+1G>A (n.3428+1G>A)
c.3362+1G>A (n.3362+1G>A)
c.2775+1G>A (n.2775+1G>A)
c.2834+1G>A (n.2834+1G>A)
c.3431+1G>A (n.3431+1G>A)
c.2936+1G>A (n.2936+1G>A)
c.3449+1G>A (n.3449+1G>A)
c.3167+1G>A (n.3167+1G>A)
c.3311+1G>A (n.3311+1G>A)
c.3308+1G>A (n.3308+1G>A)
c.3170+1G>A (n.3170+1G>A)
c.2843+1G>A (n.2843+1G>A)
c.2840+1G>A (n.2840+1G>A)
c.2939+1G>A (n.2939+1G>A)
c.*2867+1G>A (n.*2867+1G>A)
c.2106+182277G>A (n.2106+182277G>A)
c.589+1G>A
3g.184326984G>CCA355413683EIF2B5,EIF4G1c.3428+1G>C (n.3428+1G>C)
c.3362+1G>C (n.3362+1G>C)
c.2775+1G>C (n.2775+1G>C)
c.2834+1G>C (n.2834+1G>C)
c.3431+1G>C (n.3431+1G>C)
c.2936+1G>C (n.2936+1G>C)
c.3449+1G>C (n.3449+1G>C)
c.3167+1G>C (n.3167+1G>C)
c.3311+1G>C (n.3311+1G>C)
c.3308+1G>C (n.3308+1G>C)
c.3170+1G>C (n.3170+1G>C)
c.2843+1G>C (n.2843+1G>C)
c.2840+1G>C (n.2840+1G>C)
c.2939+1G>C (n.2939+1G>C)
c.*2867+1G>C (n.*2867+1G>C)
c.2106+182277G>C (n.2106+182277G>C)
c.589+1G>C
3g.184326984G>TCA355413687EIF2B5,EIF4G1c.3428+1G>T (n.3428+1G>T)
c.3362+1G>T (n.3362+1G>T)
c.2775+1G>T (n.2775+1G>T)
c.2834+1G>T (n.2834+1G>T)
c.3431+1G>T (n.3431+1G>T)
c.2936+1G>T (n.2936+1G>T)
c.3449+1G>T (n.3449+1G>T)
c.3167+1G>T (n.3167+1G>T)
c.3311+1G>T (n.3311+1G>T)
c.3308+1G>T (n.3308+1G>T)
c.3170+1G>T (n.3170+1G>T)
c.2843+1G>T (n.2843+1G>T)
c.2840+1G>T (n.2840+1G>T)
c.2939+1G>T (n.2939+1G>T)
c.*2867+1G>T (n.*2867+1G>T)
c.2106+182277G>T (n.2106+182277G>T)
c.589+1G>T
3g.184326984_184326985insAGCA2704833517EIF2B5,EIF4G1c.3428+1_3428+2insAG (n.3428+1_3428+2insAG)
c.3362+1_3362+2insAG (n.3362+1_3362+2insAG)
c.2775+1_2775+2insAG (n.2775+1_2775+2insAG)
c.2834+1_2834+2insAG (n.2834+1_2834+2insAG)
c.3431+1_3431+2insAG (n.3431+1_3431+2insAG)
c.2936+1_2936+2insAG (n.2936+1_2936+2insAG)
c.3449+1_3449+2insAG (n.3449+1_3449+2insAG)
c.3167+1_3167+2insAG (n.3167+1_3167+2insAG)
c.3311+1_3311+2insAG (n.3311+1_3311+2insAG)
c.3308+1_3308+2insAG (n.3308+1_3308+2insAG)
c.3170+1_3170+2insAG (n.3170+1_3170+2insAG)
c.2843+1_2843+2insAG (n.2843+1_2843+2insAG)
c.2840+1_2840+2insAG (n.2840+1_2840+2insAG)
c.2939+1_2939+2insAG (n.2939+1_2939+2insAG)
c.*2867+1_*2867+2insAG (n.*2867+1_*2867+2insAG)
c.2106+182277_2106+182278insAG (n.2106+182277_2106+182278insAG)
c.589+1_589+2insAG
 dbSNP
3g.184326985T>ACA355413700EIF2B5,EIF4G1c.3428+2T>A (n.3428+2T>A)
c.3362+2T>A (n.3362+2T>A)
c.2775+2T>A (n.2775+2T>A)
c.2834+2T>A (n.2834+2T>A)
c.3431+2T>A (n.3431+2T>A)
c.2936+2T>A (n.2936+2T>A)
c.3449+2T>A (n.3449+2T>A)
c.3167+2T>A (n.3167+2T>A)
c.3311+2T>A (n.3311+2T>A)
c.3308+2T>A (n.3308+2T>A)
c.3170+2T>A (n.3170+2T>A)
c.2843+2T>A (n.2843+2T>A)
c.2840+2T>A (n.2840+2T>A)
c.2939+2T>A (n.2939+2T>A)
c.*2867+2T>A (n.*2867+2T>A)
c.2106+182278T>A (n.2106+182278T>A)
c.589+2T>A
3g.184326985T>CCA355413698EIF2B5,EIF4G1c.3428+2T>C (n.3428+2T>C)
c.3362+2T>C (n.3362+2T>C)
c.2775+2T>C (n.2775+2T>C)
c.2834+2T>C (n.2834+2T>C)
c.3431+2T>C (n.3431+2T>C)
c.2936+2T>C (n.2936+2T>C)
c.3449+2T>C (n.3449+2T>C)
c.3167+2T>C (n.3167+2T>C)
c.3311+2T>C (n.3311+2T>C)
c.3308+2T>C (n.3308+2T>C)
c.3170+2T>C (n.3170+2T>C)
c.2843+2T>C (n.2843+2T>C)
c.2840+2T>C (n.2840+2T>C)
c.2939+2T>C (n.2939+2T>C)
c.*2867+2T>C (n.*2867+2T>C)
c.2106+182278T>C (n.2106+182278T>C)
c.589+2T>C
3g.184326985T>GCA355413692EIF2B5,EIF4G1c.3428+2T>G (n.3428+2T>G)
c.3362+2T>G (n.3362+2T>G)
c.2775+2T>G (n.2775+2T>G)
c.2834+2T>G (n.2834+2T>G)
c.3431+2T>G (n.3431+2T>G)
c.2936+2T>G (n.2936+2T>G)
c.3449+2T>G (n.3449+2T>G)
c.3167+2T>G (n.3167+2T>G)
c.3311+2T>G (n.3311+2T>G)
c.3308+2T>G (n.3308+2T>G)
c.3170+2T>G (n.3170+2T>G)
c.2843+2T>G (n.2843+2T>G)
c.2840+2T>G (n.2840+2T>G)
c.2939+2T>G (n.2939+2T>G)
c.*2867+2T>G (n.*2867+2T>G)
c.2106+182278T>G (n.2106+182278T>G)
c.589+2T>G
3g.184326985_184326986insAGCTTGAGCCGAGAACGAGGCGAGAAAGCTGGAGACCCA2704833530EIF2B5,EIF4G1c.3428+2_3428+3insAGCTTGAGCCGAGAACGAGGCGAGAAAGCTGGAGACC (n.3428+2_3428+3insAGCTTGAGCCGAGAACGAGGCGAGAAAGCTGGAGACC)
c.3362+2_3362+3insAGCTTGAGCCGAGAACGAGGCGAGAAAGCTGGAGACC (n.3362+2_3362+3insAGCTTGAGCCGAGAACGAGGCGAGAAAGCTGGAGACC)
c.2775+2_2775+3insAGCTTGAGCCGAGAACGAGGCGAGAAAGCTGGAGACC (n.2775+2_2775+3insAGCTTGAGCCGAGAACGAGGCGAGAAAGCTGGAGACC)
c.2834+2_2834+3insAGCTTGAGCCGAGAACGAGGCGAGAAAGCTGGAGACC (n.2834+2_2834+3insAGCTTGAGCCGAGAACGAGGCGAGAAAGCTGGAGACC)
c.3431+2_3431+3insAGCTTGAGCCGAGAACGAGGCGAGAAAGCTGGAGACC (n.3431+2_3431+3insAGCTTGAGCCGAGAACGAGGCGAGAAAGCTGGAGACC)
c.2936+2_2936+3insAGCTTGAGCCGAGAACGAGGCGAGAAAGCTGGAGACC (n.2936+2_2936+3insAGCTTGAGCCGAGAACGAGGCGAGAAAGCTGGAGACC)
c.3449+2_3449+3insAGCTTGAGCCGAGAACGAGGCGAGAAAGCTGGAGACC (n.3449+2_3449+3insAGCTTGAGCCGAGAACGAGGCGAGAAAGCTGGAGACC)
c.3167+2_3167+3insAGCTTGAGCCGAGAACGAGGCGAGAAAGCTGGAGACC (n.3167+2_3167+3insAGCTTGAGCCGAGAACGAGGCGAGAAAGCTGGAGACC)
c.3311+2_3311+3insAGCTTGAGCCGAGAACGAGGCGAGAAAGCTGGAGACC (n.3311+2_3311+3insAGCTTGAGCCGAGAACGAGGCGAGAAAGCTGGAGACC)
c.3308+2_3308+3insAGCTTGAGCCGAGAACGAGGCGAGAAAGCTGGAGACC (n.3308+2_3308+3insAGCTTGAGCCGAGAACGAGGCGAGAAAGCTGGAGACC)
c.3170+2_3170+3insAGCTTGAGCCGAGAACGAGGCGAGAAAGCTGGAGACC (n.3170+2_3170+3insAGCTTGAGCCGAGAACGAGGCGAGAAAGCTGGAGACC)
c.2843+2_2843+3insAGCTTGAGCCGAGAACGAGGCGAGAAAGCTGGAGACC (n.2843+2_2843+3insAGCTTGAGCCGAGAACGAGGCGAGAAAGCTGGAGACC)
c.2840+2_2840+3insAGCTTGAGCCGAGAACGAGGCGAGAAAGCTGGAGACC (n.2840+2_2840+3insAGCTTGAGCCGAGAACGAGGCGAGAAAGCTGGAGACC)
c.2939+2_2939+3insAGCTTGAGCCGAGAACGAGGCGAGAAAGCTGGAGACC (n.2939+2_2939+3insAGCTTGAGCCGAGAACGAGGCGAGAAAGCTGGAGACC)
c.*2867+2_*2867+3insAGCTTGAGCCGAGAACGAGGCGAGAAAGCTGGAGACC (n.*2867+2_*2867+3insAGCTTGAGCCGAGAACGAGGCGAGAAAGCTGGAGACC)
c.2106+182278_2106+182279insAGCTTGAGCCGAGAACGAGGCGAGAAAGCTGGAGACC (n.2106+182278_2106+182279insAGCTTGAGCCGAGAACGAGGCGAGAAAGCTGGAGACC)
c.589+2_589+3insAGCTTGAGCCGAGAACGAGGCGAGAAAGCTGGAGACC
 dbSNP
3g.184326988G>CCA2732787EIF2B5,EIF4G1c.3428+5G>C (n.3428+5G>C)
c.3362+5G>C (n.3362+5G>C)
c.2775+5G>C (n.2775+5G>C)
c.2834+5G>C (n.2834+5G>C)
c.3431+5G>C (n.3431+5G>C)
c.2936+5G>C (n.2936+5G>C)
c.3449+5G>C (n.3449+5G>C)
c.3167+5G>C (n.3167+5G>C)
c.3311+5G>C (n.3311+5G>C)
c.3308+5G>C (n.3308+5G>C)
c.3170+5G>C (n.3170+5G>C)
c.2843+5G>C (n.2843+5G>C)
c.2840+5G>C (n.2840+5G>C)
c.2939+5G>C (n.2939+5G>C)
c.*2867+5G>C (n.*2867+5G>C)
c.2106+182281G>C (n.2106+182281G>C)
c.589+5G>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.184326988G=CA1425957868EIF2B5,EIF4G1c.3428+5G= (n.3428+5G=)
c.3362+5G= (n.3362+5G=)
c.2775+5G= (n.2775+5G=)
c.2834+5G= (n.2834+5G=)
c.3431+5G= (n.3431+5G=)
c.2936+5G= (n.2936+5G=)
c.3449+5G= (n.3449+5G=)
c.3167+5G= (n.3167+5G=)
c.3311+5G= (n.3311+5G=)
c.3308+5G= (n.3308+5G=)
c.3170+5G= (n.3170+5G=)
c.2843+5G= (n.2843+5G=)
c.2840+5G= (n.2840+5G=)
c.2939+5G= (n.2939+5G=)
c.*2867+5G= (n.*2867+5G=)
c.2106+182281G= (n.2106+182281G=)
c.589+5G=
3g.184326993C=CA1425957871EIF2B5,EIF4G1c.3428+10C= (n.3428+10C=)
c.3362+10C= (n.3362+10C=)
c.2775+10C= (n.2775+10C=)
c.2834+10C= (n.2834+10C=)
c.3431+10C= (n.3431+10C=)
c.2936+10C= (n.2936+10C=)
c.3449+10C= (n.3449+10C=)
c.3167+10C= (n.3167+10C=)
c.3311+10C= (n.3311+10C=)
c.3308+10C= (n.3308+10C=)
c.3170+10C= (n.3170+10C=)
c.2843+10C= (n.2843+10C=)
c.2840+10C= (n.2840+10C=)
c.2939+10C= (n.2939+10C=)
c.*2867+10C= (n.*2867+10C=)
c.2106+182286C= (n.2106+182286C=)
c.589+10C=
3g.184326993C>TCA2732788EIF2B5,EIF4G1c.3428+10C>T (n.3428+10C>T)
c.3362+10C>T (n.3362+10C>T)
c.2775+10C>T (n.2775+10C>T)
c.2834+10C>T (n.2834+10C>T)
c.3431+10C>T (n.3431+10C>T)
c.2936+10C>T (n.2936+10C>T)
c.3449+10C>T (n.3449+10C>T)
c.3167+10C>T (n.3167+10C>T)
c.3311+10C>T (n.3311+10C>T)
c.3308+10C>T (n.3308+10C>T)
c.3170+10C>T (n.3170+10C>T)
c.2843+10C>T (n.2843+10C>T)
c.2840+10C>T (n.2840+10C>T)
c.2939+10C>T (n.2939+10C>T)
c.*2867+10C>T (n.*2867+10C>T)
c.2106+182286C>T (n.2106+182286C>T)
c.589+10C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.184326994C>ACA548796074EIF2B5,EIF4G1c.3428+11C>A (n.3428+11C>A)
c.3362+11C>A (n.3362+11C>A)
c.2775+11C>A (n.2775+11C>A)
c.2834+11C>A (n.2834+11C>A)
c.3431+11C>A (n.3431+11C>A)
c.2936+11C>A (n.2936+11C>A)
c.3449+11C>A (n.3449+11C>A)
c.3167+11C>A (n.3167+11C>A)
c.3311+11C>A (n.3311+11C>A)
c.3308+11C>A (n.3308+11C>A)
c.3170+11C>A (n.3170+11C>A)
c.2843+11C>A (n.2843+11C>A)
c.2840+11C>A (n.2840+11C>A)
c.2939+11C>A (n.2939+11C>A)
c.*2867+11C>A (n.*2867+11C>A)
c.2106+182287C>A (n.2106+182287C>A)
c.589+11C>A
 dbSNP gnomAD v2 gnomAD v4
3g.184326994C=CA1425957875EIF2B5,EIF4G1c.3428+11C= (n.3428+11C=)
c.3362+11C= (n.3362+11C=)
c.2775+11C= (n.2775+11C=)
c.2834+11C= (n.2834+11C=)
c.3431+11C= (n.3431+11C=)
c.2936+11C= (n.2936+11C=)
c.3449+11C= (n.3449+11C=)
c.3167+11C= (n.3167+11C=)
c.3311+11C= (n.3311+11C=)
c.3308+11C= (n.3308+11C=)
c.3170+11C= (n.3170+11C=)
c.2843+11C= (n.2843+11C=)
c.2840+11C= (n.2840+11C=)
c.2939+11C= (n.2939+11C=)
c.*2867+11C= (n.*2867+11C=)
c.2106+182287C= (n.2106+182287C=)
c.589+11C=
3g.184326994C>GCA2732789EIF2B5,EIF4G1c.3428+11C>G (n.3428+11C>G)
c.3362+11C>G (n.3362+11C>G)
c.2775+11C>G (n.2775+11C>G)
c.2834+11C>G (n.2834+11C>G)
c.3431+11C>G (n.3431+11C>G)
c.2936+11C>G (n.2936+11C>G)
c.3449+11C>G (n.3449+11C>G)
c.3167+11C>G (n.3167+11C>G)
c.3311+11C>G (n.3311+11C>G)
c.3308+11C>G (n.3308+11C>G)
c.3170+11C>G (n.3170+11C>G)
c.2843+11C>G (n.2843+11C>G)
c.2840+11C>G (n.2840+11C>G)
c.2939+11C>G (n.2939+11C>G)
c.*2867+11C>G (n.*2867+11C>G)
c.2106+182287C>G (n.2106+182287C>G)
c.589+11C>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.184326995T>CCA2668839683EIF2B5,EIF4G1c.3428+12T>C (n.3428+12T>C)
c.3362+12T>C (n.3362+12T>C)
c.2775+12T>C (n.2775+12T>C)
c.2834+12T>C (n.2834+12T>C)
c.3431+12T>C (n.3431+12T>C)
c.2936+12T>C (n.2936+12T>C)
c.3449+12T>C (n.3449+12T>C)
c.3167+12T>C (n.3167+12T>C)
c.3311+12T>C (n.3311+12T>C)
c.3308+12T>C (n.3308+12T>C)
c.3170+12T>C (n.3170+12T>C)
c.2843+12T>C (n.2843+12T>C)
c.2840+12T>C (n.2840+12T>C)
c.2939+12T>C (n.2939+12T>C)
c.*2867+12T>C (n.*2867+12T>C)
c.2106+182288T>C (n.2106+182288T>C)
c.589+12T>C
 gnomAD v4
3g.184326999C=CA1425957878EIF2B5,EIF4G1c.3428+16C= (n.3428+16C=)
c.3362+16C= (n.3362+16C=)
c.2775+16C= (n.2775+16C=)
c.2834+16C= (n.2834+16C=)
c.3431+16C= (n.3431+16C=)
c.2936+16C= (n.2936+16C=)
c.3449+16C= (n.3449+16C=)
c.3167+16C= (n.3167+16C=)
c.3311+16C= (n.3311+16C=)
c.3308+16C= (n.3308+16C=)
c.3170+16C= (n.3170+16C=)
c.2843+16C= (n.2843+16C=)
c.2840+16C= (n.2840+16C=)
c.2939+16C= (n.2939+16C=)
c.*2867+16C= (n.*2867+16C=)
c.2106+182292C= (n.2106+182292C=)
c.589+16C=
3g.184326999C>TCA903714298EIF2B5,EIF4G1c.3428+16C>T (n.3428+16C>T)
c.3362+16C>T (n.3362+16C>T)
c.2775+16C>T (n.2775+16C>T)
c.2834+16C>T (n.2834+16C>T)
c.3431+16C>T (n.3431+16C>T)
c.2936+16C>T (n.2936+16C>T)
c.3449+16C>T (n.3449+16C>T)
c.3167+16C>T (n.3167+16C>T)
c.3311+16C>T (n.3311+16C>T)
c.3308+16C>T (n.3308+16C>T)
c.3170+16C>T (n.3170+16C>T)
c.2843+16C>T (n.2843+16C>T)
c.2840+16C>T (n.2840+16C>T)
c.2939+16C>T (n.2939+16C>T)
c.*2867+16C>T (n.*2867+16C>T)
c.2106+182292C>T (n.2106+182292C>T)
c.589+16C>T
 dbSNP gnomAD v3 gnomAD v4
3g.184327000A=CA1425957879EIF2B5,EIF4G1c.3428+17A= (n.3428+17A=)
c.3362+17A= (n.3362+17A=)
c.2775+17A= (n.2775+17A=)
c.2834+17A= (n.2834+17A=)
c.3431+17A= (n.3431+17A=)
c.2936+17A= (n.2936+17A=)
c.3449+17A= (n.3449+17A=)
c.3167+17A= (n.3167+17A=)
c.3311+17A= (n.3311+17A=)
c.3308+17A= (n.3308+17A=)
c.3170+17A= (n.3170+17A=)
c.2843+17A= (n.2843+17A=)
c.2840+17A= (n.2840+17A=)
c.2939+17A= (n.2939+17A=)
c.*2867+17A= (n.*2867+17A=)
c.2106+182293A= (n.2106+182293A=)
c.589+17A=
3g.184327000A>CCA2732790EIF2B5,EIF4G1c.3428+17A>C (n.3428+17A>C)
c.3362+17A>C (n.3362+17A>C)
c.2775+17A>C (n.2775+17A>C)
c.2834+17A>C (n.2834+17A>C)
c.3431+17A>C (n.3431+17A>C)
c.2936+17A>C (n.2936+17A>C)
c.3449+17A>C (n.3449+17A>C)
c.3167+17A>C (n.3167+17A>C)
c.3311+17A>C (n.3311+17A>C)
c.3308+17A>C (n.3308+17A>C)
c.3170+17A>C (n.3170+17A>C)
c.2843+17A>C (n.2843+17A>C)
c.2840+17A>C (n.2840+17A>C)
c.2939+17A>C (n.2939+17A>C)
c.*2867+17A>C (n.*2867+17A>C)
c.2106+182293A>C (n.2106+182293A>C)
c.589+17A>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.184327000A>GCA548796075EIF2B5,EIF4G1c.3428+17A>G (n.3428+17A>G)
c.3362+17A>G (n.3362+17A>G)
c.2775+17A>G (n.2775+17A>G)
c.2834+17A>G (n.2834+17A>G)
c.3431+17A>G (n.3431+17A>G)
c.2936+17A>G (n.2936+17A>G)
c.3449+17A>G (n.3449+17A>G)
c.3167+17A>G (n.3167+17A>G)
c.3311+17A>G (n.3311+17A>G)
c.3308+17A>G (n.3308+17A>G)
c.3170+17A>G (n.3170+17A>G)
c.2843+17A>G (n.2843+17A>G)
c.2840+17A>G (n.2840+17A>G)
c.2939+17A>G (n.2939+17A>G)
c.*2867+17A>G (n.*2867+17A>G)
c.2106+182293A>G (n.2106+182293A>G)
c.589+17A>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.184327004T>CCA903714300EIF2B5,EIF4G1c.3428+21T>C (n.3428+21T>C)
c.3362+21T>C (n.3362+21T>C)
c.2775+21T>C (n.2775+21T>C)
c.2834+21T>C (n.2834+21T>C)
c.3431+21T>C (n.3431+21T>C)
c.2936+21T>C (n.2936+21T>C)
c.3449+21T>C (n.3449+21T>C)
c.3167+21T>C (n.3167+21T>C)
c.3311+21T>C (n.3311+21T>C)
c.3308+21T>C (n.3308+21T>C)
c.3170+21T>C (n.3170+21T>C)
c.2843+21T>C (n.2843+21T>C)
c.2840+21T>C (n.2840+21T>C)
c.2939+21T>C (n.2939+21T>C)
c.*2867+21T>C (n.*2867+21T>C)
c.2106+182297T>C (n.2106+182297T>C)
c.589+21T>C
 dbSNP gnomAD v3 gnomAD v4
3g.184327004T=CA1425957883EIF2B5,EIF4G1c.3428+21T= (n.3428+21T=)
c.3362+21T= (n.3362+21T=)
c.2775+21T= (n.2775+21T=)
c.2834+21T= (n.2834+21T=)
c.3431+21T= (n.3431+21T=)
c.2936+21T= (n.2936+21T=)
c.3449+21T= (n.3449+21T=)
c.3167+21T= (n.3167+21T=)
c.3311+21T= (n.3311+21T=)
c.3308+21T= (n.3308+21T=)
c.3170+21T= (n.3170+21T=)
c.2843+21T= (n.2843+21T=)
c.2840+21T= (n.2840+21T=)
c.2939+21T= (n.2939+21T=)
c.*2867+21T= (n.*2867+21T=)
c.2106+182297T= (n.2106+182297T=)
c.589+21T=
3g.184327005T>CCA2668839709EIF2B5,EIF4G1c.3428+22T>C (n.3428+22T>C)
c.3362+22T>C (n.3362+22T>C)
c.2775+22T>C (n.2775+22T>C)
c.2834+22T>C (n.2834+22T>C)
c.3431+22T>C (n.3431+22T>C)
c.2936+22T>C (n.2936+22T>C)
c.3449+22T>C (n.3449+22T>C)
c.3167+22T>C (n.3167+22T>C)
c.3311+22T>C (n.3311+22T>C)
c.3308+22T>C (n.3308+22T>C)
c.3170+22T>C (n.3170+22T>C)
c.2843+22T>C (n.2843+22T>C)
c.2840+22T>C (n.2840+22T>C)
c.2939+22T>C (n.2939+22T>C)
c.*2867+22T>C (n.*2867+22T>C)
c.2106+182298T>C (n.2106+182298T>C)
c.589+22T>C
 gnomAD v4
3g.184327006G>ACA2668839713EIF2B5,EIF4G1c.3428+23G>A (n.3428+23G>A)
c.3362+23G>A (n.3362+23G>A)
c.2775+23G>A (n.2775+23G>A)
c.2834+23G>A (n.2834+23G>A)
c.3431+23G>A (n.3431+23G>A)
c.2936+23G>A (n.2936+23G>A)
c.3449+23G>A (n.3449+23G>A)
c.3167+23G>A (n.3167+23G>A)
c.3311+23G>A (n.3311+23G>A)
c.3308+23G>A (n.3308+23G>A)
c.3170+23G>A (n.3170+23G>A)
c.2843+23G>A (n.2843+23G>A)
c.2840+23G>A (n.2840+23G>A)
c.2939+23G>A (n.2939+23G>A)
c.*2867+23G>A (n.*2867+23G>A)
c.2106+182299G>A (n.2106+182299G>A)
c.589+23G>A
 gnomAD v4
3g.184327007T>CCA2732791EIF2B5,EIF4G1c.3428+24T>C (n.3428+24T>C)
c.3362+24T>C (n.3362+24T>C)
c.2775+24T>C (n.2775+24T>C)
c.2834+24T>C (n.2834+24T>C)
c.3431+24T>C (n.3431+24T>C)
c.2936+24T>C (n.2936+24T>C)
c.3449+24T>C (n.3449+24T>C)
c.3167+24T>C (n.3167+24T>C)
c.3311+24T>C (n.3311+24T>C)
c.3308+24T>C (n.3308+24T>C)
c.3170+24T>C (n.3170+24T>C)
c.2843+24T>C (n.2843+24T>C)
c.2840+24T>C (n.2840+24T>C)
c.2939+24T>C (n.2939+24T>C)
c.*2867+24T>C (n.*2867+24T>C)
c.2106+182300T>C (n.2106+182300T>C)
c.589+24T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.184327007T=CA1425957885EIF2B5,EIF4G1c.3428+24T= (n.3428+24T=)
c.3362+24T= (n.3362+24T=)
c.2775+24T= (n.2775+24T=)
c.2834+24T= (n.2834+24T=)
c.3431+24T= (n.3431+24T=)
c.2936+24T= (n.2936+24T=)
c.3449+24T= (n.3449+24T=)
c.3167+24T= (n.3167+24T=)
c.3311+24T= (n.3311+24T=)
c.3308+24T= (n.3308+24T=)
c.3170+24T= (n.3170+24T=)
c.2843+24T= (n.2843+24T=)
c.2840+24T= (n.2840+24T=)
c.2939+24T= (n.2939+24T=)
c.*2867+24T= (n.*2867+24T=)
c.2106+182300T= (n.2106+182300T=)
c.589+24T=
3g.184327009_184327011delCA2577978151EIF2B5,EIF4G1c.3428+26_3428+28del (n.3428+26_3428+28del)
c.3362+26_3362+28del (n.3362+26_3362+28del)
c.2775+26_2775+28del (n.2775+26_2775+28del)
c.2834+26_2834+28del (n.2834+26_2834+28del)
c.3431+26_3431+28del (n.3431+26_3431+28del)
c.2936+26_2936+28del (n.2936+26_2936+28del)
c.3449+26_3449+28del (n.3449+26_3449+28del)
c.3167+26_3167+28del (n.3167+26_3167+28del)
c.3311+26_3311+28del (n.3311+26_3311+28del)
c.3308+26_3308+28del (n.3308+26_3308+28del)
c.3170+26_3170+28del (n.3170+26_3170+28del)
c.2843+26_2843+28del (n.2843+26_2843+28del)
c.2840+26_2840+28del (n.2840+26_2840+28del)
c.2939+26_2939+28del (n.2939+26_2939+28del)
c.*2867+26_*2867+28del (n.*2867+26_*2867+28del)
c.2106+182302_2106+182304del (n.2106+182302_2106+182304del)
c.589+26_589+28del
 gnomAD v4
3g.184327008T>CCA2732792EIF2B5,EIF4G1c.3428+25T>C (n.3428+25T>C)
c.3362+25T>C (n.3362+25T>C)
c.2775+25T>C (n.2775+25T>C)
c.2834+25T>C (n.2834+25T>C)
c.3431+25T>C (n.3431+25T>C)
c.2936+25T>C (n.2936+25T>C)
c.3449+25T>C (n.3449+25T>C)
c.3167+25T>C (n.3167+25T>C)
c.3311+25T>C (n.3311+25T>C)
c.3308+25T>C (n.3308+25T>C)
c.3170+25T>C (n.3170+25T>C)
c.2843+25T>C (n.2843+25T>C)
c.2840+25T>C (n.2840+25T>C)
c.2939+25T>C (n.2939+25T>C)
c.*2867+25T>C (n.*2867+25T>C)
c.2106+182301T>C (n.2106+182301T>C)
c.589+25T>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.184327008T=CA1425957887EIF2B5,EIF4G1c.3428+25T= (n.3428+25T=)
c.3362+25T= (n.3362+25T=)
c.2775+25T= (n.2775+25T=)
c.2834+25T= (n.2834+25T=)
c.3431+25T= (n.3431+25T=)
c.2936+25T= (n.2936+25T=)
c.3449+25T= (n.3449+25T=)
c.3167+25T= (n.3167+25T=)
c.3311+25T= (n.3311+25T=)
c.3308+25T= (n.3308+25T=)
c.3170+25T= (n.3170+25T=)
c.2843+25T= (n.2843+25T=)
c.2840+25T= (n.2840+25T=)
c.2939+25T= (n.2939+25T=)
c.*2867+25T= (n.*2867+25T=)
c.2106+182301T= (n.2106+182301T=)
c.589+25T=
3g.184327009A>TCA2668839728EIF2B5,EIF4G1c.3428+26A>T (n.3428+26A>T)
c.3362+26A>T (n.3362+26A>T)
c.2775+26A>T (n.2775+26A>T)
c.2834+26A>T (n.2834+26A>T)
c.3431+26A>T (n.3431+26A>T)
c.2936+26A>T (n.2936+26A>T)
c.3449+26A>T (n.3449+26A>T)
c.3167+26A>T (n.3167+26A>T)
c.3311+26A>T (n.3311+26A>T)
c.3308+26A>T (n.3308+26A>T)
c.3170+26A>T (n.3170+26A>T)
c.2843+26A>T (n.2843+26A>T)
c.2840+26A>T (n.2840+26A>T)
c.2939+26A>T (n.2939+26A>T)
c.*2867+26A>T (n.*2867+26A>T)
c.2106+182302A>T (n.2106+182302A>T)
c.589+26A>T
 gnomAD v4
3g.184327009_184327010insACACA2668839725EIF2B5,EIF4G1c.3428+26_3428+27insACA (n.3428+26_3428+27insACA)
c.3362+26_3362+27insACA (n.3362+26_3362+27insACA)
c.2775+26_2775+27insACA (n.2775+26_2775+27insACA)
c.2834+26_2834+27insACA (n.2834+26_2834+27insACA)
c.3431+26_3431+27insACA (n.3431+26_3431+27insACA)
c.2936+26_2936+27insACA (n.2936+26_2936+27insACA)
c.3449+26_3449+27insACA (n.3449+26_3449+27insACA)
c.3167+26_3167+27insACA (n.3167+26_3167+27insACA)
c.3311+26_3311+27insACA (n.3311+26_3311+27insACA)
c.3308+26_3308+27insACA (n.3308+26_3308+27insACA)
c.3170+26_3170+27insACA (n.3170+26_3170+27insACA)
c.2843+26_2843+27insACA (n.2843+26_2843+27insACA)
c.2840+26_2840+27insACA (n.2840+26_2840+27insACA)
c.2939+26_2939+27insACA (n.2939+26_2939+27insACA)
c.*2867+26_*2867+27insACA (n.*2867+26_*2867+27insACA)
c.2106+182302_2106+182303insACA (n.2106+182302_2106+182303insACA)
c.589+26_589+27insACA
 gnomAD v4
3g.184327010T>CCA2668839767EIF2B5,EIF4G1c.3428+27T>C (n.3428+27T>C)
c.3362+27T>C (n.3362+27T>C)
c.2775+27T>C (n.2775+27T>C)
c.2834+27T>C (n.2834+27T>C)
c.3431+27T>C (n.3431+27T>C)
c.2936+27T>C (n.2936+27T>C)
c.3449+27T>C (n.3449+27T>C)
c.3167+27T>C (n.3167+27T>C)
c.3311+27T>C (n.3311+27T>C)
c.3308+27T>C (n.3308+27T>C)
c.3170+27T>C (n.3170+27T>C)
c.2843+27T>C (n.2843+27T>C)
c.2840+27T>C (n.2840+27T>C)
c.2939+27T>C (n.2939+27T>C)
c.*2867+27T>C (n.*2867+27T>C)
c.2106+182303T>C (n.2106+182303T>C)
c.589+27T>C
 gnomAD v4
3g.184327011T>ACA2704833531EIF2B5,EIF4G1c.3428+28T>A (n.3428+28T>A)
c.3362+28T>A (n.3362+28T>A)
c.2775+28T>A (n.2775+28T>A)
c.2834+28T>A (n.2834+28T>A)
c.3431+28T>A (n.3431+28T>A)
c.2936+28T>A (n.2936+28T>A)
c.3449+28T>A (n.3449+28T>A)
c.3167+28T>A (n.3167+28T>A)
c.3311+28T>A (n.3311+28T>A)
c.3308+28T>A (n.3308+28T>A)
c.3170+28T>A (n.3170+28T>A)
c.2843+28T>A (n.2843+28T>A)
c.2840+28T>A (n.2840+28T>A)
c.2939+28T>A (n.2939+28T>A)
c.*2867+28T>A (n.*2867+28T>A)
c.2106+182304T>A (n.2106+182304T>A)
c.589+28T>A
 dbSNP
3g.184327013A>GCA2668839768EIF2B5,EIF4G1c.3428+30A>G (n.3428+30A>G)
c.3362+30A>G (n.3362+30A>G)
c.2775+30A>G (n.2775+30A>G)
c.2834+30A>G (n.2834+30A>G)
c.3431+30A>G (n.3431+30A>G)
c.2936+30A>G (n.2936+30A>G)
c.3449+30A>G (n.3449+30A>G)
c.3167+30A>G (n.3167+30A>G)
c.3311+30A>G (n.3311+30A>G)
c.3308+30A>G (n.3308+30A>G)
c.3170+30A>G (n.3170+30A>G)
c.2843+30A>G (n.2843+30A>G)
c.2840+30A>G (n.2840+30A>G)
c.2939+30A>G (n.2939+30A>G)
c.*2867+30A>G (n.*2867+30A>G)
c.2106+182306A>G (n.2106+182306A>G)
c.589+30A>G
 dbSNP gnomAD v4
3g.184327013A>TCA2668839770EIF2B5,EIF4G1c.3428+30A>T (n.3428+30A>T)
c.3362+30A>T (n.3362+30A>T)
c.2775+30A>T (n.2775+30A>T)
c.2834+30A>T (n.2834+30A>T)
c.3431+30A>T (n.3431+30A>T)
c.2936+30A>T (n.2936+30A>T)
c.3449+30A>T (n.3449+30A>T)
c.3167+30A>T (n.3167+30A>T)
c.3311+30A>T (n.3311+30A>T)
c.3308+30A>T (n.3308+30A>T)
c.3170+30A>T (n.3170+30A>T)
c.2843+30A>T (n.2843+30A>T)
c.2840+30A>T (n.2840+30A>T)
c.2939+30A>T (n.2939+30A>T)
c.*2867+30A>T (n.*2867+30A>T)
c.2106+182306A>T (n.2106+182306A>T)
c.589+30A>T
 gnomAD v4
3g.184327014C>TCA2668839774EIF2B5,EIF4G1c.3428+31C>T (n.3428+31C>T)
c.3362+31C>T (n.3362+31C>T)
c.2775+31C>T (n.2775+31C>T)
c.2834+31C>T (n.2834+31C>T)
c.3431+31C>T (n.3431+31C>T)
c.2936+31C>T (n.2936+31C>T)
c.3449+31C>T (n.3449+31C>T)
c.3167+31C>T (n.3167+31C>T)
c.3311+31C>T (n.3311+31C>T)
c.3308+31C>T (n.3308+31C>T)
c.3170+31C>T (n.3170+31C>T)
c.2843+31C>T (n.2843+31C>T)
c.2840+31C>T (n.2840+31C>T)
c.2939+31C>T (n.2939+31C>T)
c.*2867+31C>T (n.*2867+31C>T)
c.2106+182307C>T (n.2106+182307C>T)
c.589+31C>T
 gnomAD v4
3g.184327015A=CA1425957891EIF2B5,EIF4G1c.3428+32A= (n.3428+32A=)
c.3362+32A= (n.3362+32A=)
c.2775+32A= (n.2775+32A=)
c.2834+32A= (n.2834+32A=)
c.3431+32A= (n.3431+32A=)
c.2936+32A= (n.2936+32A=)
c.3449+32A= (n.3449+32A=)
c.3167+32A= (n.3167+32A=)
c.3311+32A= (n.3311+32A=)
c.3308+32A= (n.3308+32A=)
c.3170+32A= (n.3170+32A=)
c.2843+32A= (n.2843+32A=)
c.2840+32A= (n.2840+32A=)
c.2939+32A= (n.2939+32A=)
c.*2867+32A= (n.*2867+32A=)
c.2106+182308A= (n.2106+182308A=)
c.589+32A=
3g.184327015A>GCA88867307EIF2B5,EIF4G1c.3428+32A>G (n.3428+32A>G)
c.3362+32A>G (n.3362+32A>G)
c.2775+32A>G (n.2775+32A>G)
c.2834+32A>G (n.2834+32A>G)
c.3431+32A>G (n.3431+32A>G)
c.2936+32A>G (n.2936+32A>G)
c.3449+32A>G (n.3449+32A>G)
c.3167+32A>G (n.3167+32A>G)
c.3311+32A>G (n.3311+32A>G)
c.3308+32A>G (n.3308+32A>G)
c.3170+32A>G (n.3170+32A>G)
c.2843+32A>G (n.2843+32A>G)
c.2840+32A>G (n.2840+32A>G)
c.2939+32A>G (n.2939+32A>G)
c.*2867+32A>G (n.*2867+32A>G)
c.2106+182308A>G (n.2106+182308A>G)
c.589+32A>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.184327016C=CA1425957894EIF2B5,EIF4G1c.3428+33C= (n.3428+33C=)
c.3362+33C= (n.3362+33C=)
c.2775+33C= (n.2775+33C=)
c.2834+33C= (n.2834+33C=)
c.3431+33C= (n.3431+33C=)
c.2936+33C= (n.2936+33C=)
c.3449+33C= (n.3449+33C=)
c.3167+33C= (n.3167+33C=)
c.3311+33C= (n.3311+33C=)
c.3308+33C= (n.3308+33C=)
c.3170+33C= (n.3170+33C=)
c.2843+33C= (n.2843+33C=)
c.2840+33C= (n.2840+33C=)
c.2939+33C= (n.2939+33C=)
c.*2867+33C= (n.*2867+33C=)
c.2106+182309C= (n.2106+182309C=)
c.589+33C=
3g.184327016C>GCA2732793EIF2B5,EIF4G1c.3428+33C>G (n.3428+33C>G)
c.3362+33C>G (n.3362+33C>G)
c.2775+33C>G (n.2775+33C>G)
c.2834+33C>G (n.2834+33C>G)
c.3431+33C>G (n.3431+33C>G)
c.2936+33C>G (n.2936+33C>G)
c.3449+33C>G (n.3449+33C>G)
c.3167+33C>G (n.3167+33C>G)
c.3311+33C>G (n.3311+33C>G)
c.3308+33C>G (n.3308+33C>G)
c.3170+33C>G (n.3170+33C>G)
c.2843+33C>G (n.2843+33C>G)
c.2840+33C>G (n.2840+33C>G)
c.2939+33C>G (n.2939+33C>G)
c.*2867+33C>G (n.*2867+33C>G)
c.2106+182309C>G (n.2106+182309C>G)
c.589+33C>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.184327016C>TCA2732794EIF2B5,EIF4G1c.3428+33C>T (n.3428+33C>T)
c.3362+33C>T (n.3362+33C>T)
c.2775+33C>T (n.2775+33C>T)
c.2834+33C>T (n.2834+33C>T)
c.3431+33C>T (n.3431+33C>T)
c.2936+33C>T (n.2936+33C>T)
c.3449+33C>T (n.3449+33C>T)
c.3167+33C>T (n.3167+33C>T)
c.3311+33C>T (n.3311+33C>T)
c.3308+33C>T (n.3308+33C>T)
c.3170+33C>T (n.3170+33C>T)
c.2843+33C>T (n.2843+33C>T)
c.2840+33C>T (n.2840+33C>T)
c.2939+33C>T (n.2939+33C>T)
c.*2867+33C>T (n.*2867+33C>T)
c.2106+182309C>T (n.2106+182309C>T)
c.589+33C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.184327017T>CCA2704833579EIF2B5,EIF4G1c.3428+34T>C (n.3428+34T>C)
c.3362+34T>C (n.3362+34T>C)
c.2775+34T>C (n.2775+34T>C)
c.2834+34T>C (n.2834+34T>C)
c.3431+34T>C (n.3431+34T>C)
c.2936+34T>C (n.2936+34T>C)
c.3449+34T>C (n.3449+34T>C)
c.3167+34T>C (n.3167+34T>C)
c.3311+34T>C (n.3311+34T>C)
c.3308+34T>C (n.3308+34T>C)
c.3170+34T>C (n.3170+34T>C)
c.2843+34T>C (n.2843+34T>C)
c.2840+34T>C (n.2840+34T>C)
c.2939+34T>C (n.2939+34T>C)
c.*2867+34T>C (n.*2867+34T>C)
c.2106+182310T>C (n.2106+182310T>C)
c.589+34T>C
 dbSNP
3g.184327018G>ACA1425957899EIF2B5,EIF4G1c.3428+35G>A (n.3428+35G>A)
c.3362+35G>A (n.3362+35G>A)
c.2775+35G>A (n.2775+35G>A)
c.2834+35G>A (n.2834+35G>A)
c.3431+35G>A (n.3431+35G>A)
c.2936+35G>A (n.2936+35G>A)
c.3449+35G>A (n.3449+35G>A)
c.3167+35G>A (n.3167+35G>A)
c.3311+35G>A (n.3311+35G>A)
c.3308+35G>A (n.3308+35G>A)
c.3170+35G>A (n.3170+35G>A)
c.2843+35G>A (n.2843+35G>A)
c.2840+35G>A (n.2840+35G>A)
c.2939+35G>A (n.2939+35G>A)
c.*2867+35G>A (n.*2867+35G>A)
c.2106+182311G>A (n.2106+182311G>A)
c.589+35G>A
 dbSNP gnomAD v4
3g.184327018G=CA1425957897EIF2B5,EIF4G1c.3428+35G= (n.3428+35G=)
c.3362+35G= (n.3362+35G=)
c.2775+35G= (n.2775+35G=)
c.2834+35G= (n.2834+35G=)
c.3431+35G= (n.3431+35G=)
c.2936+35G= (n.2936+35G=)
c.3449+35G= (n.3449+35G=)
c.3167+35G= (n.3167+35G=)
c.3311+35G= (n.3311+35G=)
c.3308+35G= (n.3308+35G=)
c.3170+35G= (n.3170+35G=)
c.2843+35G= (n.2843+35G=)
c.2840+35G= (n.2840+35G=)
c.2939+35G= (n.2939+35G=)
c.*2867+35G= (n.*2867+35G=)
c.2106+182311G= (n.2106+182311G=)
c.589+35G=
3g.184327018G>TCA903714303EIF2B5,EIF4G1c.3428+35G>T (n.3428+35G>T)
c.3362+35G>T (n.3362+35G>T)
c.2775+35G>T (n.2775+35G>T)
c.2834+35G>T (n.2834+35G>T)
c.3431+35G>T (n.3431+35G>T)
c.2936+35G>T (n.2936+35G>T)
c.3449+35G>T (n.3449+35G>T)
c.3167+35G>T (n.3167+35G>T)
c.3311+35G>T (n.3311+35G>T)
c.3308+35G>T (n.3308+35G>T)
c.3170+35G>T (n.3170+35G>T)
c.2843+35G>T (n.2843+35G>T)
c.2840+35G>T (n.2840+35G>T)
c.2939+35G>T (n.2939+35G>T)
c.*2867+35G>T (n.*2867+35G>T)
c.2106+182311G>T (n.2106+182311G>T)
c.589+35G>T
 dbSNP gnomAD v3 gnomAD v4
3g.184327022delCA2577978152EIF2B5,EIF4G1c.3428+39del (n.3428+39del)
c.3362+39del (n.3362+39del)
c.2775+39del (n.2775+39del)
c.2834+39del (n.2834+39del)
c.3431+39del (n.3431+39del)
c.2936+39del (n.2936+39del)
c.3449+39del (n.3449+39del)
c.3167+39del (n.3167+39del)
c.3311+39del (n.3311+39del)
c.3308+39del (n.3308+39del)
c.3170+39del (n.3170+39del)
c.2843+39del (n.2843+39del)
c.2840+39del (n.2840+39del)
c.2939+39del (n.2939+39del)
c.*2867+39del (n.*2867+39del)
c.2106+182315del (n.2106+182315del)
c.589+39del
3g.184327019G>CCA2732795EIF2B5,EIF4G1c.3428+36G>C (n.3428+36G>C)
c.3362+36G>C (n.3362+36G>C)
c.2775+36G>C (n.2775+36G>C)
c.2834+36G>C (n.2834+36G>C)
c.3431+36G>C (n.3431+36G>C)
c.2936+36G>C (n.2936+36G>C)
c.3449+36G>C (n.3449+36G>C)
c.3167+36G>C (n.3167+36G>C)
c.3311+36G>C (n.3311+36G>C)
c.3308+36G>C (n.3308+36G>C)
c.3170+36G>C (n.3170+36G>C)
c.2843+36G>C (n.2843+36G>C)
c.2840+36G>C (n.2840+36G>C)
c.2939+36G>C (n.2939+36G>C)
c.*2867+36G>C (n.*2867+36G>C)
c.2106+182312G>C (n.2106+182312G>C)
c.589+36G>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.184327019G=CA1425957900EIF2B5,EIF4G1c.3428+36G= (n.3428+36G=)
c.3362+36G= (n.3362+36G=)
c.2775+36G= (n.2775+36G=)
c.2834+36G= (n.2834+36G=)
c.3431+36G= (n.3431+36G=)
c.2936+36G= (n.2936+36G=)
c.3449+36G= (n.3449+36G=)
c.3167+36G= (n.3167+36G=)
c.3311+36G= (n.3311+36G=)
c.3308+36G= (n.3308+36G=)
c.3170+36G= (n.3170+36G=)
c.2843+36G= (n.2843+36G=)
c.2840+36G= (n.2840+36G=)
c.2939+36G= (n.2939+36G=)
c.*2867+36G= (n.*2867+36G=)
c.2106+182312G= (n.2106+182312G=)
c.589+36G=
3g.184327019G>TCA1425957901EIF2B5,EIF4G1c.3428+36G>T (n.3428+36G>T)
c.3362+36G>T (n.3362+36G>T)
c.2775+36G>T (n.2775+36G>T)
c.2834+36G>T (n.2834+36G>T)
c.3431+36G>T (n.3431+36G>T)
c.2936+36G>T (n.2936+36G>T)
c.3449+36G>T (n.3449+36G>T)
c.3167+36G>T (n.3167+36G>T)
c.3311+36G>T (n.3311+36G>T)
c.3308+36G>T (n.3308+36G>T)
c.3170+36G>T (n.3170+36G>T)
c.2843+36G>T (n.2843+36G>T)
c.2840+36G>T (n.2840+36G>T)
c.2939+36G>T (n.2939+36G>T)
c.*2867+36G>T (n.*2867+36G>T)
c.2106+182312G>T (n.2106+182312G>T)
c.589+36G>T
 dbSNP gnomAD v4
3g.184327020G>CCA903714306EIF2B5,EIF4G1c.3428+37G>C (n.3428+37G>C)
c.3362+37G>C (n.3362+37G>C)
c.2775+37G>C (n.2775+37G>C)
c.2834+37G>C (n.2834+37G>C)
c.3431+37G>C (n.3431+37G>C)
c.2936+37G>C (n.2936+37G>C)
c.3449+37G>C (n.3449+37G>C)
c.3167+37G>C (n.3167+37G>C)
c.3311+37G>C (n.3311+37G>C)
c.3308+37G>C (n.3308+37G>C)
c.3170+37G>C (n.3170+37G>C)
c.2843+37G>C (n.2843+37G>C)
c.2840+37G>C (n.2840+37G>C)
c.2939+37G>C (n.2939+37G>C)
c.*2867+37G>C (n.*2867+37G>C)
c.2106+182313G>C (n.2106+182313G>C)
c.589+37G>C
 dbSNP gnomAD v3 gnomAD v4
3g.184327020G=CA1425957902EIF2B5,EIF4G1c.3428+37G= (n.3428+37G=)
c.3362+37G= (n.3362+37G=)
c.2775+37G= (n.2775+37G=)
c.2834+37G= (n.2834+37G=)
c.3431+37G= (n.3431+37G=)
c.2936+37G= (n.2936+37G=)
c.3449+37G= (n.3449+37G=)
c.3167+37G= (n.3167+37G=)
c.3311+37G= (n.3311+37G=)
c.3308+37G= (n.3308+37G=)
c.3170+37G= (n.3170+37G=)
c.2843+37G= (n.2843+37G=)
c.2840+37G= (n.2840+37G=)
c.2939+37G= (n.2939+37G=)
c.*2867+37G= (n.*2867+37G=)
c.2106+182313G= (n.2106+182313G=)
c.589+37G=
3g.184327020G>TCA548796076EIF2B5,EIF4G1c.3428+37G>T (n.3428+37G>T)
c.3362+37G>T (n.3362+37G>T)
c.2775+37G>T (n.2775+37G>T)
c.2834+37G>T (n.2834+37G>T)
c.3431+37G>T (n.3431+37G>T)
c.2936+37G>T (n.2936+37G>T)
c.3449+37G>T (n.3449+37G>T)
c.3167+37G>T (n.3167+37G>T)
c.3311+37G>T (n.3311+37G>T)
c.3308+37G>T (n.3308+37G>T)
c.3170+37G>T (n.3170+37G>T)
c.2843+37G>T (n.2843+37G>T)
c.2840+37G>T (n.2840+37G>T)
c.2939+37G>T (n.2939+37G>T)
c.*2867+37G>T (n.*2867+37G>T)
c.2106+182313G>T (n.2106+182313G>T)
c.589+37G>T
 dbSNP gnomAD v2 gnomAD v4
3g.184327021G=CA1425957907EIF2B5,EIF4G1c.3428+38G= (n.3428+38G=)
c.3362+38G= (n.3362+38G=)
c.2775+38G= (n.2775+38G=)
c.2834+38G= (n.2834+38G=)
c.3431+38G= (n.3431+38G=)
c.2936+38G= (n.2936+38G=)
c.3449+38G= (n.3449+38G=)
c.3167+38G= (n.3167+38G=)
c.3311+38G= (n.3311+38G=)
c.3308+38G= (n.3308+38G=)
c.3170+38G= (n.3170+38G=)
c.2843+38G= (n.2843+38G=)
c.2840+38G= (n.2840+38G=)
c.2939+38G= (n.2939+38G=)
c.*2867+38G= (n.*2867+38G=)
c.2106+182314G= (n.2106+182314G=)
c.589+38G=
3g.184327021G>TCA548796077EIF2B5,EIF4G1c.3428+38G>T (n.3428+38G>T)
c.3362+38G>T (n.3362+38G>T)
c.2775+38G>T (n.2775+38G>T)
c.2834+38G>T (n.2834+38G>T)
c.3431+38G>T (n.3431+38G>T)
c.2936+38G>T (n.2936+38G>T)
c.3449+38G>T (n.3449+38G>T)
c.3167+38G>T (n.3167+38G>T)
c.3311+38G>T (n.3311+38G>T)
c.3308+38G>T (n.3308+38G>T)
c.3170+38G>T (n.3170+38G>T)
c.2843+38G>T (n.2843+38G>T)
c.2840+38G>T (n.2840+38G>T)
c.2939+38G>T (n.2939+38G>T)
c.*2867+38G>T (n.*2867+38G>T)
c.2106+182314G>T (n.2106+182314G>T)
c.589+38G>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.184327022G>TCA2668839813EIF2B5,EIF4G1c.3428+39G>T (n.3428+39G>T)
c.3362+39G>T (n.3362+39G>T)
c.2775+39G>T (n.2775+39G>T)
c.2834+39G>T (n.2834+39G>T)
c.3431+39G>T (n.3431+39G>T)
c.2936+39G>T (n.2936+39G>T)
c.3449+39G>T (n.3449+39G>T)
c.3167+39G>T (n.3167+39G>T)
c.3311+39G>T (n.3311+39G>T)
c.3308+39G>T (n.3308+39G>T)
c.3170+39G>T (n.3170+39G>T)
c.2843+39G>T (n.2843+39G>T)
c.2840+39G>T (n.2840+39G>T)
c.2939+39G>T (n.2939+39G>T)
c.*2867+39G>T (n.*2867+39G>T)
c.2106+182315G>T (n.2106+182315G>T)
c.589+39G>T
 gnomAD v4
3g.184327025C>GCA2668839814EIF2B5,EIF4G1c.3428+42C>G (n.3428+42C>G)
c.3362+42C>G (n.3362+42C>G)
c.2775+42C>G (n.2775+42C>G)
c.2834+42C>G (n.2834+42C>G)
c.3431+42C>G (n.3431+42C>G)
c.2936+42C>G (n.2936+42C>G)
c.3449+42C>G (n.3449+42C>G)
c.3167+42C>G (n.3167+42C>G)
c.3311+42C>G (n.3311+42C>G)
c.3308+42C>G (n.3308+42C>G)
c.3170+42C>G (n.3170+42C>G)
c.2843+42C>G (n.2843+42C>G)
c.2840+42C>G (n.2840+42C>G)
c.2939+42C>G (n.2939+42C>G)
c.*2867+42C>G (n.*2867+42C>G)
c.2106+182318C>G (n.2106+182318C>G)
c.589+42C>G
 gnomAD v4
3g.184327026C=CA1425957909EIF2B5,EIF4G1c.3428+43C= (n.3428+43C=)
c.3362+43C= (n.3362+43C=)
c.2775+43C= (n.2775+43C=)
c.2834+43C= (n.2834+43C=)
c.3431+43C= (n.3431+43C=)
c.2936+43C= (n.2936+43C=)
c.3449+43C= (n.3449+43C=)
c.3167+43C= (n.3167+43C=)
c.3311+43C= (n.3311+43C=)
c.3308+43C= (n.3308+43C=)
c.3170+43C= (n.3170+43C=)
c.2843+43C= (n.2843+43C=)
c.2840+43C= (n.2840+43C=)
c.2939+43C= (n.2939+43C=)
c.*2867+43C= (n.*2867+43C=)
c.2106+182319C= (n.2106+182319C=)
c.589+43C=
3g.184327026C>GCA2732797EIF2B5,EIF4G1c.3428+43C>G (n.3428+43C>G)
c.3362+43C>G (n.3362+43C>G)
c.2775+43C>G (n.2775+43C>G)
c.2834+43C>G (n.2834+43C>G)
c.3431+43C>G (n.3431+43C>G)
c.2936+43C>G (n.2936+43C>G)
c.3449+43C>G (n.3449+43C>G)
c.3167+43C>G (n.3167+43C>G)
c.3311+43C>G (n.3311+43C>G)
c.3308+43C>G (n.3308+43C>G)
c.3170+43C>G (n.3170+43C>G)
c.2843+43C>G (n.2843+43C>G)
c.2840+43C>G (n.2840+43C>G)
c.2939+43C>G (n.2939+43C>G)
c.*2867+43C>G (n.*2867+43C>G)
c.2106+182319C>G (n.2106+182319C>G)
c.589+43C>G
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.184327026C>TCA2732796EIF2B5,EIF4G1c.3428+43C>T (n.3428+43C>T)
c.3362+43C>T (n.3362+43C>T)
c.2775+43C>T (n.2775+43C>T)
c.2834+43C>T (n.2834+43C>T)
c.3431+43C>T (n.3431+43C>T)
c.2936+43C>T (n.2936+43C>T)
c.3449+43C>T (n.3449+43C>T)
c.3167+43C>T (n.3167+43C>T)
c.3311+43C>T (n.3311+43C>T)
c.3308+43C>T (n.3308+43C>T)
c.3170+43C>T (n.3170+43C>T)
c.2843+43C>T (n.2843+43C>T)
c.2840+43C>T (n.2840+43C>T)
c.2939+43C>T (n.2939+43C>T)
c.*2867+43C>T (n.*2867+43C>T)
c.2106+182319C>T (n.2106+182319C>T)
c.589+43C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.184327027G>ACA2732798EIF2B5,EIF4G1c.3428+44G>A (n.3428+44G>A)
c.3362+44G>A (n.3362+44G>A)
c.2775+44G>A (n.2775+44G>A)
c.2834+44G>A (n.2834+44G>A)
c.3431+44G>A (n.3431+44G>A)
c.2936+44G>A (n.2936+44G>A)
c.3449+44G>A (n.3449+44G>A)
c.3167+44G>A (n.3167+44G>A)
c.3311+44G>A (n.3311+44G>A)
c.3308+44G>A (n.3308+44G>A)
c.3170+44G>A (n.3170+44G>A)
c.2843+44G>A (n.2843+44G>A)
c.2840+44G>A (n.2840+44G>A)
c.2939+44G>A (n.2939+44G>A)
c.*2867+44G>A (n.*2867+44G>A)
c.2106+182320G>A (n.2106+182320G>A)
c.589+44G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.184327027G=CA1425957914EIF2B5,EIF4G1c.3428+44G= (n.3428+44G=)
c.3362+44G= (n.3362+44G=)
c.2775+44G= (n.2775+44G=)
c.2834+44G= (n.2834+44G=)
c.3431+44G= (n.3431+44G=)
c.2936+44G= (n.2936+44G=)
c.3449+44G= (n.3449+44G=)
c.3167+44G= (n.3167+44G=)
c.3311+44G= (n.3311+44G=)
c.3308+44G= (n.3308+44G=)
c.3170+44G= (n.3170+44G=)
c.2843+44G= (n.2843+44G=)
c.2840+44G= (n.2840+44G=)
c.2939+44G= (n.2939+44G=)
c.*2867+44G= (n.*2867+44G=)
c.2106+182320G= (n.2106+182320G=)
c.589+44G=
3g.184327027_184327028insCTCA2759716602EIF2B5,EIF4G1c.3428+44_3428+45insCT (n.3428+44_3428+45insCT)
c.3362+44_3362+45insCT (n.3362+44_3362+45insCT)
c.2775+44_2775+45insCT (n.2775+44_2775+45insCT)
c.2834+44_2834+45insCT (n.2834+44_2834+45insCT)
c.3431+44_3431+45insCT (n.3431+44_3431+45insCT)
c.2936+44_2936+45insCT (n.2936+44_2936+45insCT)
c.3449+44_3449+45insCT (n.3449+44_3449+45insCT)
c.3167+44_3167+45insCT (n.3167+44_3167+45insCT)
c.3311+44_3311+45insCT (n.3311+44_3311+45insCT)
c.3308+44_3308+45insCT (n.3308+44_3308+45insCT)
c.3170+44_3170+45insCT (n.3170+44_3170+45insCT)
c.2843+44_2843+45insCT (n.2843+44_2843+45insCT)
c.2840+44_2840+45insCT (n.2840+44_2840+45insCT)
c.2939+44_2939+45insCT (n.2939+44_2939+45insCT)
c.*2867+44_*2867+45insCT (n.*2867+44_*2867+45insCT)
c.2106+182320_2106+182321insCT (n.2106+182320_2106+182321insCT)
c.589+44_589+45insCT
3g.184327028T>CCA548796078EIF2B5,EIF4G1c.3428+45T>C (n.3428+45T>C)
c.3362+45T>C (n.3362+45T>C)
c.2775+45T>C (n.2775+45T>C)
c.2834+45T>C (n.2834+45T>C)
c.3431+45T>C (n.3431+45T>C)
c.2936+45T>C (n.2936+45T>C)
c.3449+45T>C (n.3449+45T>C)
c.3167+45T>C (n.3167+45T>C)
c.3311+45T>C (n.3311+45T>C)
c.3308+45T>C (n.3308+45T>C)
c.3170+45T>C (n.3170+45T>C)
c.2843+45T>C (n.2843+45T>C)
c.2840+45T>C (n.2840+45T>C)
c.2939+45T>C (n.2939+45T>C)
c.*2867+45T>C (n.*2867+45T>C)
c.2106+182321T>C (n.2106+182321T>C)
c.589+45T>C
 dbSNP gnomAD v2 gnomAD v4
3g.184327028T=CA1425957916EIF2B5,EIF4G1c.3428+45T= (n.3428+45T=)
c.3362+45T= (n.3362+45T=)
c.2775+45T= (n.2775+45T=)
c.2834+45T= (n.2834+45T=)
c.3431+45T= (n.3431+45T=)
c.2936+45T= (n.2936+45T=)
c.3449+45T= (n.3449+45T=)
c.3167+45T= (n.3167+45T=)
c.3311+45T= (n.3311+45T=)
c.3308+45T= (n.3308+45T=)
c.3170+45T= (n.3170+45T=)
c.2843+45T= (n.2843+45T=)
c.2840+45T= (n.2840+45T=)
c.2939+45T= (n.2939+45T=)
c.*2867+45T= (n.*2867+45T=)
c.2106+182321T= (n.2106+182321T=)
c.589+45T=
3g.184327029_184327030insTTGAAGGGCTGAGAAGCGATTCCA2759716603EIF2B5,EIF4G1c.3428+46_3428+47insTTGAAGGGCTGAGAAGCGATTC (n.3428+46_3428+47insTTGAAGGGCTGAGAAGCGATTC)
c.3362+46_3362+47insTTGAAGGGCTGAGAAGCGATTC (n.3362+46_3362+47insTTGAAGGGCTGAGAAGCGATTC)
c.2775+46_2775+47insTTGAAGGGCTGAGAAGCGATTC (n.2775+46_2775+47insTTGAAGGGCTGAGAAGCGATTC)
c.2834+46_2834+47insTTGAAGGGCTGAGAAGCGATTC (n.2834+46_2834+47insTTGAAGGGCTGAGAAGCGATTC)
c.3431+46_3431+47insTTGAAGGGCTGAGAAGCGATTC (n.3431+46_3431+47insTTGAAGGGCTGAGAAGCGATTC)
c.2936+46_2936+47insTTGAAGGGCTGAGAAGCGATTC (n.2936+46_2936+47insTTGAAGGGCTGAGAAGCGATTC)
c.3449+46_3449+47insTTGAAGGGCTGAGAAGCGATTC (n.3449+46_3449+47insTTGAAGGGCTGAGAAGCGATTC)
c.3167+46_3167+47insTTGAAGGGCTGAGAAGCGATTC (n.3167+46_3167+47insTTGAAGGGCTGAGAAGCGATTC)
c.3311+46_3311+47insTTGAAGGGCTGAGAAGCGATTC (n.3311+46_3311+47insTTGAAGGGCTGAGAAGCGATTC)
c.3308+46_3308+47insTTGAAGGGCTGAGAAGCGATTC (n.3308+46_3308+47insTTGAAGGGCTGAGAAGCGATTC)
c.3170+46_3170+47insTTGAAGGGCTGAGAAGCGATTC (n.3170+46_3170+47insTTGAAGGGCTGAGAAGCGATTC)
c.2843+46_2843+47insTTGAAGGGCTGAGAAGCGATTC (n.2843+46_2843+47insTTGAAGGGCTGAGAAGCGATTC)
c.2840+46_2840+47insTTGAAGGGCTGAGAAGCGATTC (n.2840+46_2840+47insTTGAAGGGCTGAGAAGCGATTC)
c.2939+46_2939+47insTTGAAGGGCTGAGAAGCGATTC (n.2939+46_2939+47insTTGAAGGGCTGAGAAGCGATTC)
c.*2867+46_*2867+47insTTGAAGGGCTGAGAAGCGATTC (n.*2867+46_*2867+47insTTGAAGGGCTGAGAAGCGATTC)
c.2106+182322_2106+182323insTTGAAGGGCTGAGAAGCGATTC (n.2106+182322_2106+182323insTTGAAGGGCTGAGAAGCGATTC)
c.589+46_589+47insTTGAAGGGCTGAGAAGCGATTC
3g.184327031T>CCA2732799EIF2B5,EIF4G1c.3428+48T>C (n.3428+48T>C)
c.3362+48T>C (n.3362+48T>C)
c.2775+48T>C (n.2775+48T>C)
c.2834+48T>C (n.2834+48T>C)
c.3431+48T>C (n.3431+48T>C)
c.2936+48T>C (n.2936+48T>C)
c.3449+48T>C (n.3449+48T>C)
c.3167+48T>C (n.3167+48T>C)
c.3311+48T>C (n.3311+48T>C)
c.3308+48T>C (n.3308+48T>C)
c.3170+48T>C (n.3170+48T>C)
c.2843+48T>C (n.2843+48T>C)
c.2840+48T>C (n.2840+48T>C)
c.2939+48T>C (n.2939+48T>C)
c.*2867+48T>C (n.*2867+48T>C)
c.2106+182324T>C (n.2106+182324T>C)
c.589+48T>C
 dbSNP ExAC gnomAD v2
3g.184327031T=CA1425957918EIF2B5,EIF4G1c.3428+48T= (n.3428+48T=)
c.3362+48T= (n.3362+48T=)
c.2775+48T= (n.2775+48T=)
c.2834+48T= (n.2834+48T=)
c.3431+48T= (n.3431+48T=)
c.2936+48T= (n.2936+48T=)
c.3449+48T= (n.3449+48T=)
c.3167+48T= (n.3167+48T=)
c.3311+48T= (n.3311+48T=)
c.3308+48T= (n.3308+48T=)
c.3170+48T= (n.3170+48T=)
c.2843+48T= (n.2843+48T=)
c.2840+48T= (n.2840+48T=)
c.2939+48T= (n.2939+48T=)
c.*2867+48T= (n.*2867+48T=)
c.2106+182324T= (n.2106+182324T=)
c.589+48T=
3g.184327032T>CCA2668839826EIF2B5,EIF4G1c.3428+49T>C (n.3428+49T>C)
c.3362+49T>C (n.3362+49T>C)
c.2775+49T>C (n.2775+49T>C)
c.2834+49T>C (n.2834+49T>C)
c.3431+49T>C (n.3431+49T>C)
c.2936+49T>C (n.2936+49T>C)
c.3449+49T>C (n.3449+49T>C)
c.3167+49T>C (n.3167+49T>C)
c.3311+49T>C (n.3311+49T>C)
c.3308+49T>C (n.3308+49T>C)
c.3170+49T>C (n.3170+49T>C)
c.2843+49T>C (n.2843+49T>C)
c.2840+49T>C (n.2840+49T>C)
c.2939+49T>C (n.2939+49T>C)
c.*2867+49T>C (n.*2867+49T>C)
c.2106+182325T>C (n.2106+182325T>C)
c.589+49T>C
 gnomAD v4
3g.184327033G=CA1425957920EIF2B5,EIF4G1c.3428+50G= (n.3428+50G=)
c.3362+50G= (n.3362+50G=)
c.2775+50G= (n.2775+50G=)
c.2834+50G= (n.2834+50G=)
c.3431+50G= (n.3431+50G=)
c.2936+50G= (n.2936+50G=)
c.3449+50G= (n.3449+50G=)
c.3167+50G= (n.3167+50G=)
c.3311+50G= (n.3311+50G=)
c.3308+50G= (n.3308+50G=)
c.3170+50G= (n.3170+50G=)
c.2843+50G= (n.2843+50G=)
c.2840+50G= (n.2840+50G=)
c.2939+50G= (n.2939+50G=)
c.*2867+50G= (n.*2867+50G=)
c.2106+182326G= (n.2106+182326G=)
c.589+50G=
3g.184327033G>TCA88867317EIF2B5,EIF4G1c.3428+50G>T (n.3428+50G>T)
c.3362+50G>T (n.3362+50G>T)
c.2775+50G>T (n.2775+50G>T)
c.2834+50G>T (n.2834+50G>T)
c.3431+50G>T (n.3431+50G>T)
c.2936+50G>T (n.2936+50G>T)
c.3449+50G>T (n.3449+50G>T)
c.3167+50G>T (n.3167+50G>T)
c.3311+50G>T (n.3311+50G>T)
c.3308+50G>T (n.3308+50G>T)
c.3170+50G>T (n.3170+50G>T)
c.2843+50G>T (n.2843+50G>T)
c.2840+50G>T (n.2840+50G>T)
c.2939+50G>T (n.2939+50G>T)
c.*2867+50G>T (n.*2867+50G>T)
c.2106+182326G>T (n.2106+182326G>T)
c.589+50G>T
 dbSNP
3g.184327034G>ACA2668839828EIF2B5,EIF4G1c.3428+51G>A (n.3428+51G>A)
c.3362+51G>A (n.3362+51G>A)
c.2775+51G>A (n.2775+51G>A)
c.2834+51G>A (n.2834+51G>A)
c.3431+51G>A (n.3431+51G>A)
c.2936+51G>A (n.2936+51G>A)
c.3449+51G>A (n.3449+51G>A)
c.3167+51G>A (n.3167+51G>A)
c.3311+51G>A (n.3311+51G>A)
c.3308+51G>A (n.3308+51G>A)
c.3170+51G>A (n.3170+51G>A)
c.2843+51G>A (n.2843+51G>A)
c.2840+51G>A (n.2840+51G>A)
c.2939+51G>A (n.2939+51G>A)
c.*2867+51G>A (n.*2867+51G>A)
c.2106+182327G>A (n.2106+182327G>A)
c.589+51G>A
 gnomAD v4
3g.184327035G>ACA548796079EIF2B5,EIF4G1c.3428+52G>A (n.3428+52G>A)
c.3362+52G>A (n.3362+52G>A)
c.2775+52G>A (n.2775+52G>A)
c.2834+52G>A (n.2834+52G>A)
c.3431+52G>A (n.3431+52G>A)
c.2936+52G>A (n.2936+52G>A)
c.3449+52G>A (n.3449+52G>A)
c.3167+52G>A (n.3167+52G>A)
c.3311+52G>A (n.3311+52G>A)
c.3308+52G>A (n.3308+52G>A)
c.3170+52G>A (n.3170+52G>A)
c.2843+52G>A (n.2843+52G>A)
c.2840+52G>A (n.2840+52G>A)
c.2939+52G>A (n.2939+52G>A)
c.*2867+52G>A (n.*2867+52G>A)
c.2106+182328G>A (n.2106+182328G>A)
c.589+52G>A
 dbSNP gnomAD v2 gnomAD v4
3g.184327035G=CA1425957925EIF2B5,EIF4G1c.3428+52G= (n.3428+52G=)
c.3362+52G= (n.3362+52G=)
c.2775+52G= (n.2775+52G=)
c.2834+52G= (n.2834+52G=)
c.3431+52G= (n.3431+52G=)
c.2936+52G= (n.2936+52G=)
c.3449+52G= (n.3449+52G=)
c.3167+52G= (n.3167+52G=)
c.3311+52G= (n.3311+52G=)
c.3308+52G= (n.3308+52G=)
c.3170+52G= (n.3170+52G=)
c.2843+52G= (n.2843+52G=)
c.2840+52G= (n.2840+52G=)
c.2939+52G= (n.2939+52G=)
c.*2867+52G= (n.*2867+52G=)
c.2106+182328G= (n.2106+182328G=)
c.589+52G=
3g.184327038C>TCA2668839832EIF2B5,EIF4G1c.3428+55C>T (n.3428+55C>T)
c.3362+55C>T (n.3362+55C>T)
c.2775+55C>T (n.2775+55C>T)
c.2834+55C>T (n.2834+55C>T)
c.3431+55C>T (n.3431+55C>T)
c.2936+55C>T (n.2936+55C>T)
c.3449+55C>T (n.3449+55C>T)
c.3167+55C>T (n.3167+55C>T)
c.3311+55C>T (n.3311+55C>T)
c.3308+55C>T (n.3308+55C>T)
c.3170+55C>T (n.3170+55C>T)
c.2843+55C>T (n.2843+55C>T)
c.2840+55C>T (n.2840+55C>T)
c.2939+55C>T (n.2939+55C>T)
c.*2867+55C>T (n.*2867+55C>T)
c.2106+182331C>T (n.2106+182331C>T)
c.589+55C>T
 gnomAD v4
3g.184327040G>CCA2577978153EIF2B5,EIF4G1c.3428+57G>C (n.3428+57G>C)
c.3362+57G>C (n.3362+57G>C)
c.2775+57G>C (n.2775+57G>C)
c.2834+57G>C (n.2834+57G>C)
c.3431+57G>C (n.3431+57G>C)
c.2936+57G>C (n.2936+57G>C)
c.3449+57G>C (n.3449+57G>C)
c.3167+57G>C (n.3167+57G>C)
c.3311+57G>C (n.3311+57G>C)
c.3308+57G>C (n.3308+57G>C)
c.3170+57G>C (n.3170+57G>C)
c.2843+57G>C (n.2843+57G>C)
c.2840+57G>C (n.2840+57G>C)
c.2939+57G>C (n.2939+57G>C)
c.*2867+57G>C (n.*2867+57G>C)
c.2106+182333G>C (n.2106+182333G>C)
c.589+57G>C
 gnomAD v4
3g.184327041G>ACA903714318EIF2B5,EIF4G1c.3428+58G>A (n.3428+58G>A)
c.3362+58G>A (n.3362+58G>A)
c.2775+58G>A (n.2775+58G>A)
c.2834+58G>A (n.2834+58G>A)
c.3431+58G>A (n.3431+58G>A)
c.2936+58G>A (n.2936+58G>A)
c.3449+58G>A (n.3449+58G>A)
c.3167+58G>A (n.3167+58G>A)
c.3311+58G>A (n.3311+58G>A)
c.3308+58G>A (n.3308+58G>A)
c.3170+58G>A (n.3170+58G>A)
c.2843+58G>A (n.2843+58G>A)
c.2840+58G>A (n.2840+58G>A)
c.2939+58G>A (n.2939+58G>A)
c.*2867+58G>A (n.*2867+58G>A)
c.2106+182334G>A (n.2106+182334G>A)
c.589+58G>A
 dbSNP gnomAD v4
3g.184327041G>CCA1425957928EIF2B5,EIF4G1c.3428+58G>C (n.3428+58G>C)
c.3362+58G>C (n.3362+58G>C)
c.2775+58G>C (n.2775+58G>C)
c.2834+58G>C (n.2834+58G>C)
c.3431+58G>C (n.3431+58G>C)
c.2936+58G>C (n.2936+58G>C)
c.3449+58G>C (n.3449+58G>C)
c.3167+58G>C (n.3167+58G>C)
c.3311+58G>C (n.3311+58G>C)
c.3308+58G>C (n.3308+58G>C)
c.3170+58G>C (n.3170+58G>C)
c.2843+58G>C (n.2843+58G>C)
c.2840+58G>C (n.2840+58G>C)
c.2939+58G>C (n.2939+58G>C)
c.*2867+58G>C (n.*2867+58G>C)
c.2106+182334G>C (n.2106+182334G>C)
c.589+58G>C
 dbSNP
3g.184327041G=CA1425957927EIF2B5,EIF4G1c.3428+58G= (n.3428+58G=)
c.3362+58G= (n.3362+58G=)
c.2775+58G= (n.2775+58G=)
c.2834+58G= (n.2834+58G=)
c.3431+58G= (n.3431+58G=)
c.2936+58G= (n.2936+58G=)
c.3449+58G= (n.3449+58G=)
c.3167+58G= (n.3167+58G=)
c.3311+58G= (n.3311+58G=)
c.3308+58G= (n.3308+58G=)
c.3170+58G= (n.3170+58G=)
c.2843+58G= (n.2843+58G=)
c.2840+58G= (n.2840+58G=)
c.2939+58G= (n.2939+58G=)
c.*2867+58G= (n.*2867+58G=)
c.2106+182334G= (n.2106+182334G=)
c.589+58G=
3g.184327042T>ACA88867319EIF2B5,EIF4G1c.3428+59T>A (n.3428+59T>A)
c.3362+59T>A (n.3362+59T>A)
c.2775+59T>A (n.2775+59T>A)
c.2834+59T>A (n.2834+59T>A)
c.3431+59T>A (n.3431+59T>A)
c.2936+59T>A (n.2936+59T>A)
c.3449+59T>A (n.3449+59T>A)
c.3167+59T>A (n.3167+59T>A)
c.3311+59T>A (n.3311+59T>A)
c.3308+59T>A (n.3308+59T>A)
c.3170+59T>A (n.3170+59T>A)
c.2843+59T>A (n.2843+59T>A)
c.2840+59T>A (n.2840+59T>A)
c.2939+59T>A (n.2939+59T>A)
c.*2867+59T>A (n.*2867+59T>A)
c.2106+182335T>A (n.2106+182335T>A)
c.589+59T>A
 dbSNP gnomAD v3 gnomAD v4
3g.184327042T>CCA2668839840EIF2B5,EIF4G1c.3428+59T>C (n.3428+59T>C)
c.3362+59T>C (n.3362+59T>C)
c.2775+59T>C (n.2775+59T>C)
c.2834+59T>C (n.2834+59T>C)
c.3431+59T>C (n.3431+59T>C)
c.2936+59T>C (n.2936+59T>C)
c.3449+59T>C (n.3449+59T>C)
c.3167+59T>C (n.3167+59T>C)
c.3311+59T>C (n.3311+59T>C)
c.3308+59T>C (n.3308+59T>C)
c.3170+59T>C (n.3170+59T>C)
c.2843+59T>C (n.2843+59T>C)
c.2840+59T>C (n.2840+59T>C)
c.2939+59T>C (n.2939+59T>C)
c.*2867+59T>C (n.*2867+59T>C)
c.2106+182335T>C (n.2106+182335T>C)
c.589+59T>C
 gnomAD v4
3g.184327042T=CA1425957930EIF2B5,EIF4G1c.3428+59T= (n.3428+59T=)
c.3362+59T= (n.3362+59T=)
c.2775+59T= (n.2775+59T=)
c.2834+59T= (n.2834+59T=)
c.3431+59T= (n.3431+59T=)
c.2936+59T= (n.2936+59T=)
c.3449+59T= (n.3449+59T=)
c.3167+59T= (n.3167+59T=)
c.3311+59T= (n.3311+59T=)
c.3308+59T= (n.3308+59T=)
c.3170+59T= (n.3170+59T=)
c.2843+59T= (n.2843+59T=)
c.2840+59T= (n.2840+59T=)
c.2939+59T= (n.2939+59T=)
c.*2867+59T= (n.*2867+59T=)
c.2106+182335T= (n.2106+182335T=)
c.589+59T=
3g.184327043dupCA2668839838EIF2B5,EIF4G1c.3428+60dup (n.3428+60dup)
c.3362+60dup (n.3362+60dup)
c.2775+60dup (n.2775+60dup)
c.2834+60dup (n.2834+60dup)
c.3431+60dup (n.3431+60dup)
c.2936+60dup (n.2936+60dup)
c.3449+60dup (n.3449+60dup)
c.3167+60dup (n.3167+60dup)
c.3311+60dup (n.3311+60dup)
c.3308+60dup (n.3308+60dup)
c.3170+60dup (n.3170+60dup)
c.2843+60dup (n.2843+60dup)
c.2840+60dup (n.2840+60dup)
c.2939+60dup (n.2939+60dup)
c.*2867+60dup (n.*2867+60dup)
c.2106+182336dup (n.2106+182336dup)
c.589+60dup
 gnomAD v4
3g.184327044G=CA1425957931EIF2B5,EIF4G1c.3428+61G= (n.3428+61G=)
c.3362+61G= (n.3362+61G=)
c.2775+61G= (n.2775+61G=)
c.2834+61G= (n.2834+61G=)
c.3431+61G= (n.3431+61G=)
c.2936+61G= (n.2936+61G=)
c.3449+61G= (n.3449+61G=)
c.3167+61G= (n.3167+61G=)
c.3311+61G= (n.3311+61G=)
c.3308+61G= (n.3308+61G=)
c.3170+61G= (n.3170+61G=)
c.2843+61G= (n.2843+61G=)
c.2840+61G= (n.2840+61G=)
c.2939+61G= (n.2939+61G=)
c.*2867+61G= (n.*2867+61G=)
c.2106+182337G= (n.2106+182337G=)
c.589+61G=
3g.184327044G>TCA1425957932EIF2B5,EIF4G1c.3428+61G>T (n.3428+61G>T)
c.3362+61G>T (n.3362+61G>T)
c.2775+61G>T (n.2775+61G>T)
c.2834+61G>T (n.2834+61G>T)
c.3431+61G>T (n.3431+61G>T)
c.2936+61G>T (n.2936+61G>T)
c.3449+61G>T (n.3449+61G>T)
c.3167+61G>T (n.3167+61G>T)
c.3311+61G>T (n.3311+61G>T)
c.3308+61G>T (n.3308+61G>T)
c.3170+61G>T (n.3170+61G>T)
c.2843+61G>T (n.2843+61G>T)
c.2840+61G>T (n.2840+61G>T)
c.2939+61G>T (n.2939+61G>T)
c.*2867+61G>T (n.*2867+61G>T)
c.2106+182337G>T (n.2106+182337G>T)
c.589+61G>T
 dbSNP
3g.184327046T>GCA2668839844EIF2B5,EIF4G1c.3428+63T>G (n.3428+63T>G)
c.3362+63T>G (n.3362+63T>G)
c.2775+63T>G (n.2775+63T>G)
c.2834+63T>G (n.2834+63T>G)
c.3431+63T>G (n.3431+63T>G)
c.2936+63T>G (n.2936+63T>G)
c.3449+63T>G (n.3449+63T>G)
c.3167+63T>G (n.3167+63T>G)
c.3311+63T>G (n.3311+63T>G)
c.3308+63T>G (n.3308+63T>G)
c.3170+63T>G (n.3170+63T>G)
c.2843+63T>G (n.2843+63T>G)
c.2840+63T>G (n.2840+63T>G)
c.2939+63T>G (n.2939+63T>G)
c.*2867+63T>G (n.*2867+63T>G)
c.2106+182339T>G (n.2106+182339T>G)
c.589+63T>G
 gnomAD v4
3g.184327047G>ACA1057223604EIF2B5,EIF4G1c.3428+64G>A (n.3428+64G>A)
c.3362+64G>A (n.3362+64G>A)
c.2775+64G>A (n.2775+64G>A)
c.2834+64G>A (n.2834+64G>A)
c.3431+64G>A (n.3431+64G>A)
c.2936+64G>A (n.2936+64G>A)
c.3449+64G>A (n.3449+64G>A)
c.3167+64G>A (n.3167+64G>A)
c.3311+64G>A (n.3311+64G>A)
c.3308+64G>A (n.3308+64G>A)
c.3170+64G>A (n.3170+64G>A)
c.2843+64G>A (n.2843+64G>A)
c.2840+64G>A (n.2840+64G>A)
c.2939+64G>A (n.2939+64G>A)
c.*2867+64G>A (n.*2867+64G>A)
c.2106+182340G>A (n.2106+182340G>A)
c.589+64G>A
 dbSNP gnomAD v3 gnomAD v4
3g.184327047G=CA1425957934EIF2B5,EIF4G1c.3428+64G= (n.3428+64G=)
c.3362+64G= (n.3362+64G=)
c.2775+64G= (n.2775+64G=)
c.2834+64G= (n.2834+64G=)
c.3431+64G= (n.3431+64G=)
c.2936+64G= (n.2936+64G=)
c.3449+64G= (n.3449+64G=)
c.3167+64G= (n.3167+64G=)
c.3311+64G= (n.3311+64G=)
c.3308+64G= (n.3308+64G=)
c.3170+64G= (n.3170+64G=)
c.2843+64G= (n.2843+64G=)
c.2840+64G= (n.2840+64G=)
c.2939+64G= (n.2939+64G=)
c.*2867+64G= (n.*2867+64G=)
c.2106+182340G= (n.2106+182340G=)
c.589+64G=

Number of alleles fetched