Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.184326924C>A | CA355413254 | EIF2B5,EIF4G1 | c.3369C>A (p.Phe1123Leu) c.3303C>A (p.Phe1101Leu) c.2716C>A (n.2716C>A) c.2775C>A (p.Phe925Leu) c.3372C>A (p.Phe1124Leu) c.2877C>A (p.Phe959Leu) c.3390C>A (p.Phe1130Leu) c.3108C>A (p.Phe1036Leu) c.3252C>A (p.Phe1084Leu) c.3249C>A (p.Phe1083Leu) c.3111C>A (p.Phe1037Leu) c.2784C>A (p.Phe928Leu) c.2781C>A (p.Phe927Leu) c.2880C>A (p.Phe960Leu) c.*2808C>A (n.*2808C>A) c.2106+182217C>A (n.2106+182217C>A) c.530C>A | |
3 | g.184326924C>G | CA355413256 | EIF2B5,EIF4G1 | c.3369C>G (p.Phe1123Leu) c.3303C>G (p.Phe1101Leu) c.2716C>G (n.2716C>G) c.2775C>G (p.Phe925Leu) c.3372C>G (p.Phe1124Leu) c.2877C>G (p.Phe959Leu) c.3390C>G (p.Phe1130Leu) c.3108C>G (p.Phe1036Leu) c.3252C>G (p.Phe1084Leu) c.3249C>G (p.Phe1083Leu) c.3111C>G (p.Phe1037Leu) c.2784C>G (p.Phe928Leu) c.2781C>G (p.Phe927Leu) c.2880C>G (p.Phe960Leu) c.*2808C>G (n.*2808C>G) c.2106+182217C>G (n.2106+182217C>G) c.530C>G | |
3 | g.184326924C>T | CA437162104 | EIF2B5,EIF4G1 | c.3369C>T (p.Phe1123=) c.3303C>T (p.Phe1101=) c.2716C>T (n.2716C>T) c.2775C>T (p.Phe925=) c.3372C>T (p.Phe1124=) c.2877C>T (p.Phe959=) c.3390C>T (p.Phe1130=) c.3108C>T (p.Phe1036=) c.3252C>T (p.Phe1084=) c.3249C>T (p.Phe1083=) c.3111C>T (p.Phe1037=) c.2784C>T (p.Phe928=) c.2781C>T (p.Phe927=) c.2880C>T (p.Phe960=) c.*2808C>T (n.*2808C>T) c.2106+182217C>T (n.2106+182217C>T) c.530C>T | |
3 | g.184326925T>A | CA355413261 | EIF2B5,EIF4G1 | c.3370T>A (p.Ser1124Thr) c.3304T>A (p.Ser1102Thr) c.2717T>A (n.2717T>A) c.2776T>A (p.Ser926Thr) c.3373T>A (p.Ser1125Thr) c.2878T>A (p.Ser960Thr) c.3391T>A (p.Ser1131Thr) c.3109T>A (p.Ser1037Thr) c.3253T>A (p.Ser1085Thr) c.3250T>A (p.Ser1084Thr) c.3112T>A (p.Ser1038Thr) c.2785T>A (p.Ser929Thr) c.2782T>A (p.Ser928Thr) c.2881T>A (p.Ser961Thr) c.*2809T>A (n.*2809T>A) c.2106+182218T>A (n.2106+182218T>A) c.531T>A | |
3 | g.184326925T>C | CA355413262 | EIF2B5,EIF4G1 | c.3370T>C (p.Ser1124Pro) c.3304T>C (p.Ser1102Pro) c.2717T>C (n.2717T>C) c.2776T>C (p.Ser926Pro) c.3373T>C (p.Ser1125Pro) c.2878T>C (p.Ser960Pro) c.3391T>C (p.Ser1131Pro) c.3109T>C (p.Ser1037Pro) c.3253T>C (p.Ser1085Pro) c.3250T>C (p.Ser1084Pro) c.3112T>C (p.Ser1038Pro) c.2785T>C (p.Ser929Pro) c.2782T>C (p.Ser928Pro) c.2881T>C (p.Ser961Pro) c.*2809T>C (n.*2809T>C) c.2106+182218T>C (n.2106+182218T>C) c.531T>C | |
3 | g.184326925T>G | CA355413265 | EIF2B5,EIF4G1 | c.3370T>G (p.Ser1124Ala) c.3304T>G (p.Ser1102Ala) c.2717T>G (n.2717T>G) c.2776T>G (p.Ser926Ala) c.3373T>G (p.Ser1125Ala) c.2878T>G (p.Ser960Ala) c.3391T>G (p.Ser1131Ala) c.3109T>G (p.Ser1037Ala) c.3253T>G (p.Ser1085Ala) c.3250T>G (p.Ser1084Ala) c.3112T>G (p.Ser1038Ala) c.2785T>G (p.Ser929Ala) c.2782T>G (p.Ser928Ala) c.2881T>G (p.Ser961Ala) c.*2809T>G (n.*2809T>G) c.2106+182218T>G (n.2106+182218T>G) c.531T>G | |
3 | g.184326926C>A | CA355413270 | EIF2B5,EIF4G1 | c.3371C>A (p.Ser1124Ter) c.3305C>A (p.Ser1102Ter) c.2718C>A (n.2718C>A) c.2777C>A (p.Ser926Ter) c.3374C>A (p.Ser1125Ter) c.2879C>A (p.Ser960Ter) c.3392C>A (p.Ser1131Ter) c.3110C>A (p.Ser1037Ter) c.3254C>A (p.Ser1085Ter) c.3251C>A (p.Ser1084Ter) c.3113C>A (p.Ser1038Ter) c.2786C>A (p.Ser929Ter) c.2783C>A (p.Ser928Ter) c.2882C>A (p.Ser961Ter) c.*2810C>A (n.*2810C>A) c.2106+182219C>A (n.2106+182219C>A) c.532C>A | |
3 | g.184326926C= | CA1425957791 | EIF2B5,EIF4G1 | c.3371C= (p.Ser1124=) c.3305C= (p.Ser1102=) c.2718C= (n.2718C=) c.2777C= (p.Ser926=) c.3374C= (p.Ser1125=) c.2879C= (p.Ser960=) c.3392C= (p.Ser1131=) c.3110C= (p.Ser1037=) c.3254C= (p.Ser1085=) c.3251C= (p.Ser1084=) c.3113C= (p.Ser1038=) c.2786C= (p.Ser929=) c.2783C= (p.Ser928=) c.2882C= (p.Ser961=) c.*2810C= (n.*2810C=) c.2106+182219C= (n.2106+182219C=) c.532C= | |
3 | g.184326926C>G | CA355413273 | EIF2B5,EIF4G1 | c.3371C>G (p.Ser1124Ter) c.3305C>G (p.Ser1102Ter) c.2718C>G (n.2718C>G) c.2777C>G (p.Ser926Ter) c.3374C>G (p.Ser1125Ter) c.2879C>G (p.Ser960Ter) c.3392C>G (p.Ser1131Ter) c.3110C>G (p.Ser1037Ter) c.3254C>G (p.Ser1085Ter) c.3251C>G (p.Ser1084Ter) c.3113C>G (p.Ser1038Ter) c.2786C>G (p.Ser929Ter) c.2783C>G (p.Ser928Ter) c.2882C>G (p.Ser961Ter) c.*2810C>G (n.*2810C>G) c.2106+182219C>G (n.2106+182219C>G) c.532C>G | COSMIC |
3 | g.184326926C>T | CA355413274 | EIF2B5,EIF4G1 | c.3371C>T (p.Ser1124Leu) c.3305C>T (p.Ser1102Leu) c.2718C>T (n.2718C>T) c.2777C>T (p.Ser926Leu) c.3374C>T (p.Ser1125Leu) c.2879C>T (p.Ser960Leu) c.3392C>T (p.Ser1131Leu) c.3110C>T (p.Ser1037Leu) c.3254C>T (p.Ser1085Leu) c.3251C>T (p.Ser1084Leu) c.3113C>T (p.Ser1038Leu) c.2786C>T (p.Ser929Leu) c.2783C>T (p.Ser928Leu) c.2882C>T (p.Ser961Leu) c.*2810C>T (n.*2810C>T) c.2106+182219C>T (n.2106+182219C>T) c.532C>T | dbSNP gnomAD v3 gnomAD v4 |
3 | g.184326927A>C | CA437162105 | EIF2B5,EIF4G1 | c.3372A>C (p.Ser1124=) c.3306A>C (p.Ser1102=) c.2719A>C (n.2719A>C) c.2778A>C (p.Ser926=) c.3375A>C (p.Ser1125=) c.2880A>C (p.Ser960=) c.3393A>C (p.Ser1131=) c.3111A>C (p.Ser1037=) c.3255A>C (p.Ser1085=) c.3252A>C (p.Ser1084=) c.3114A>C (p.Ser1038=) c.2787A>C (p.Ser929=) c.2784A>C (p.Ser928=) c.2883A>C (p.Ser961=) c.*2811A>C (n.*2811A>C) c.2106+182220A>C (n.2106+182220A>C) c.533A>C | gnomAD v4 |
3 | g.184326927A>G | CA437162106 | EIF2B5,EIF4G1 | c.3372A>G (p.Ser1124=) c.3306A>G (p.Ser1102=) c.2719A>G (n.2719A>G) c.2778A>G (p.Ser926=) c.3375A>G (p.Ser1125=) c.2880A>G (p.Ser960=) c.3393A>G (p.Ser1131=) c.3111A>G (p.Ser1037=) c.3255A>G (p.Ser1085=) c.3252A>G (p.Ser1084=) c.3114A>G (p.Ser1038=) c.2787A>G (p.Ser929=) c.2784A>G (p.Ser928=) c.2883A>G (p.Ser961=) c.*2811A>G (n.*2811A>G) c.2106+182220A>G (n.2106+182220A>G) c.533A>G | |
3 | g.184326927A>T | CA437162107 | EIF2B5,EIF4G1 | c.3372A>T (p.Ser1124=) c.3306A>T (p.Ser1102=) c.2719A>T (n.2719A>T) c.2778A>T (p.Ser926=) c.3375A>T (p.Ser1125=) c.2880A>T (p.Ser960=) c.3393A>T (p.Ser1131=) c.3111A>T (p.Ser1037=) c.3255A>T (p.Ser1085=) c.3252A>T (p.Ser1084=) c.3114A>T (p.Ser1038=) c.2787A>T (p.Ser929=) c.2784A>T (p.Ser928=) c.2883A>T (p.Ser961=) c.*2811A>T (n.*2811A>T) c.2106+182220A>T (n.2106+182220A>T) c.533A>T | |
3 | g.184326928G>A | CA355413277 | EIF2B5,EIF4G1 | c.3373G>A (p.Ala1125Thr) c.3307G>A (p.Ala1103Thr) c.2720G>A (n.2720G>A) c.2779G>A (p.Ala927Thr) c.3376G>A (p.Ala1126Thr) c.2881G>A (p.Ala961Thr) c.3394G>A (p.Ala1132Thr) c.3112G>A (p.Ala1038Thr) c.3256G>A (p.Ala1086Thr) c.3253G>A (p.Ala1085Thr) c.3115G>A (p.Ala1039Thr) c.2788G>A (p.Ala930Thr) c.2785G>A (p.Ala929Thr) c.2884G>A (p.Ala962Thr) c.*2812G>A (n.*2812G>A) c.2106+182221G>A (n.2106+182221G>A) c.534G>A | |
3 | g.184326928G>C | CA355413276 | EIF2B5,EIF4G1 | c.3373G>C (p.Ala1125Pro) c.3307G>C (p.Ala1103Pro) c.2720G>C (n.2720G>C) c.2779G>C (p.Ala927Pro) c.3376G>C (p.Ala1126Pro) c.2881G>C (p.Ala961Pro) c.3394G>C (p.Ala1132Pro) c.3112G>C (p.Ala1038Pro) c.3256G>C (p.Ala1086Pro) c.3253G>C (p.Ala1085Pro) c.3115G>C (p.Ala1039Pro) c.2788G>C (p.Ala930Pro) c.2785G>C (p.Ala929Pro) c.2884G>C (p.Ala962Pro) c.*2812G>C (n.*2812G>C) c.2106+182221G>C (n.2106+182221G>C) c.534G>C | |
3 | g.184326928G>T | CA355413275 | EIF2B5,EIF4G1 | c.3373G>T (p.Ala1125Ser) c.3307G>T (p.Ala1103Ser) c.2720G>T (n.2720G>T) c.2779G>T (p.Ala927Ser) c.3376G>T (p.Ala1126Ser) c.2881G>T (p.Ala961Ser) c.3394G>T (p.Ala1132Ser) c.3112G>T (p.Ala1038Ser) c.3256G>T (p.Ala1086Ser) c.3253G>T (p.Ala1085Ser) c.3115G>T (p.Ala1039Ser) c.2788G>T (p.Ala930Ser) c.2785G>T (p.Ala929Ser) c.2884G>T (p.Ala962Ser) c.*2812G>T (n.*2812G>T) c.2106+182221G>T (n.2106+182221G>T) c.534G>T | COSMIC |
3 | g.184326929C>A | CA355413279 | EIF2B5,EIF4G1 | c.3374C>A (p.Ala1125Asp) c.3308C>A (p.Ala1103Asp) c.2721C>A (n.2721C>A) c.2780C>A (p.Ala927Asp) c.3377C>A (p.Ala1126Asp) c.2882C>A (p.Ala961Asp) c.3395C>A (p.Ala1132Asp) c.3113C>A (p.Ala1038Asp) c.3257C>A (p.Ala1086Asp) c.3254C>A (p.Ala1085Asp) c.3116C>A (p.Ala1039Asp) c.2789C>A (p.Ala930Asp) c.2786C>A (p.Ala929Asp) c.2885C>A (p.Ala962Asp) c.*2813C>A (n.*2813C>A) c.2106+182222C>A (n.2106+182222C>A) c.535C>A | |
3 | g.184326929C>G | CA355413281 | EIF2B5,EIF4G1 | c.3374C>G (p.Ala1125Gly) c.3308C>G (p.Ala1103Gly) c.2721C>G (n.2721C>G) c.2780C>G (p.Ala927Gly) c.3377C>G (p.Ala1126Gly) c.2882C>G (p.Ala961Gly) c.3395C>G (p.Ala1132Gly) c.3113C>G (p.Ala1038Gly) c.3257C>G (p.Ala1086Gly) c.3254C>G (p.Ala1085Gly) c.3116C>G (p.Ala1039Gly) c.2789C>G (p.Ala930Gly) c.2786C>G (p.Ala929Gly) c.2885C>G (p.Ala962Gly) c.*2813C>G (n.*2813C>G) c.2106+182222C>G (n.2106+182222C>G) c.535C>G | |
3 | g.184326929C>T | CA355413283 | EIF2B5,EIF4G1 | c.3374C>T (p.Ala1125Val) c.3308C>T (p.Ala1103Val) c.2721C>T (n.2721C>T) c.2780C>T (p.Ala927Val) c.3377C>T (p.Ala1126Val) c.2882C>T (p.Ala961Val) c.3395C>T (p.Ala1132Val) c.3113C>T (p.Ala1038Val) c.3257C>T (p.Ala1086Val) c.3254C>T (p.Ala1085Val) c.3116C>T (p.Ala1039Val) c.2789C>T (p.Ala930Val) c.2786C>T (p.Ala929Val) c.2885C>T (p.Ala962Val) c.*2813C>T (n.*2813C>T) c.2106+182222C>T (n.2106+182222C>T) c.535C>T | |
3 | g.184326930C>A | CA437162109 | EIF2B5,EIF4G1 | c.3375C>A (p.Ala1125=) c.3309C>A (p.Ala1103=) c.2722C>A (n.2722C>A) c.2781C>A (p.Ala927=) c.3378C>A (p.Ala1126=) c.2883C>A (p.Ala961=) c.3396C>A (p.Ala1132=) c.3114C>A (p.Ala1038=) c.3258C>A (p.Ala1086=) c.3255C>A (p.Ala1085=) c.3117C>A (p.Ala1039=) c.2790C>A (p.Ala930=) c.2787C>A (p.Ala929=) c.2886C>A (p.Ala962=) c.*2814C>A (n.*2814C>A) c.2106+182223C>A (n.2106+182223C>A) c.536C>A | |
3 | g.184326930C>G | CA437162110 | EIF2B5,EIF4G1 | c.3375C>G (p.Ala1125=) c.3309C>G (p.Ala1103=) c.2722C>G (n.2722C>G) c.2781C>G (p.Ala927=) c.3378C>G (p.Ala1126=) c.2883C>G (p.Ala961=) c.3396C>G (p.Ala1132=) c.3114C>G (p.Ala1038=) c.3258C>G (p.Ala1086=) c.3255C>G (p.Ala1085=) c.3117C>G (p.Ala1039=) c.2790C>G (p.Ala930=) c.2787C>G (p.Ala929=) c.2886C>G (p.Ala962=) c.*2814C>G (n.*2814C>G) c.2106+182223C>G (n.2106+182223C>G) c.536C>G | gnomAD v4 |
3 | g.184326930C>T | CA437162111 | EIF2B5,EIF4G1 | c.3375C>T (p.Ala1125=) c.3309C>T (p.Ala1103=) c.2722C>T (n.2722C>T) c.2781C>T (p.Ala927=) c.3378C>T (p.Ala1126=) c.2883C>T (p.Ala961=) c.3396C>T (p.Ala1132=) c.3114C>T (p.Ala1038=) c.3258C>T (p.Ala1086=) c.3255C>T (p.Ala1085=) c.3117C>T (p.Ala1039=) c.2790C>T (p.Ala930=) c.2787C>T (p.Ala929=) c.2886C>T (p.Ala962=) c.*2814C>T (n.*2814C>T) c.2106+182223C>T (n.2106+182223C>T) c.536C>T | gnomAD v4 |
3 | g.184326931C>A | CA355413288 | EIF2B5,EIF4G1 | c.3376C>A (p.Leu1126Ile) c.3310C>A (p.Leu1104Ile) c.2723C>A (n.2723C>A) c.2782C>A (p.Leu928Ile) c.3379C>A (p.Leu1127Ile) c.2884C>A (p.Leu962Ile) c.3397C>A (p.Leu1133Ile) c.3115C>A (p.Leu1039Ile) c.3259C>A (p.Leu1087Ile) c.3256C>A (p.Leu1086Ile) c.3118C>A (p.Leu1040Ile) c.2791C>A (p.Leu931Ile) c.2788C>A (p.Leu930Ile) c.2887C>A (p.Leu963Ile) c.*2815C>A (n.*2815C>A) c.2106+182224C>A (n.2106+182224C>A) c.537C>A | |
3 | g.184326931C>G | CA355413291 | EIF2B5,EIF4G1 | c.3376C>G (p.Leu1126Val) c.3310C>G (p.Leu1104Val) c.2723C>G (n.2723C>G) c.2782C>G (p.Leu928Val) c.3379C>G (p.Leu1127Val) c.2884C>G (p.Leu962Val) c.3397C>G (p.Leu1133Val) c.3115C>G (p.Leu1039Val) c.3259C>G (p.Leu1087Val) c.3256C>G (p.Leu1086Val) c.3118C>G (p.Leu1040Val) c.2791C>G (p.Leu931Val) c.2788C>G (p.Leu930Val) c.2887C>G (p.Leu963Val) c.*2815C>G (n.*2815C>G) c.2106+182224C>G (n.2106+182224C>G) c.537C>G | gnomAD v4 |
3 | g.184326931C>T | CA355413294 | EIF2B5,EIF4G1 | c.3376C>T (p.Leu1126Phe) c.3310C>T (p.Leu1104Phe) c.2723C>T (n.2723C>T) c.2782C>T (p.Leu928Phe) c.3379C>T (p.Leu1127Phe) c.2884C>T (p.Leu962Phe) c.3397C>T (p.Leu1133Phe) c.3115C>T (p.Leu1039Phe) c.3259C>T (p.Leu1087Phe) c.3256C>T (p.Leu1086Phe) c.3118C>T (p.Leu1040Phe) c.2791C>T (p.Leu931Phe) c.2788C>T (p.Leu930Phe) c.2887C>T (p.Leu963Phe) c.*2815C>T (n.*2815C>T) c.2106+182224C>T (n.2106+182224C>T) c.537C>T | |
3 | g.184326932T>A | CA355413298 | EIF2B5,EIF4G1 | c.3377T>A (p.Leu1126His) c.3311T>A (p.Leu1104His) c.2724T>A (n.2724T>A) c.2783T>A (p.Leu928His) c.3380T>A (p.Leu1127His) c.2885T>A (p.Leu962His) c.3398T>A (p.Leu1133His) c.3116T>A (p.Leu1039His) c.3260T>A (p.Leu1087His) c.3257T>A (p.Leu1086His) c.3119T>A (p.Leu1040His) c.2792T>A (p.Leu931His) c.2789T>A (p.Leu930His) c.2888T>A (p.Leu963His) c.*2816T>A (n.*2816T>A) c.2106+182225T>A (n.2106+182225T>A) c.538T>A | |
3 | g.184326932T>C | CA355413300 | EIF2B5,EIF4G1 | c.3377T>C (p.Leu1126Pro) c.3311T>C (p.Leu1104Pro) c.2724T>C (n.2724T>C) c.2783T>C (p.Leu928Pro) c.3380T>C (p.Leu1127Pro) c.2885T>C (p.Leu962Pro) c.3398T>C (p.Leu1133Pro) c.3116T>C (p.Leu1039Pro) c.3260T>C (p.Leu1087Pro) c.3257T>C (p.Leu1086Pro) c.3119T>C (p.Leu1040Pro) c.2792T>C (p.Leu931Pro) c.2789T>C (p.Leu930Pro) c.2888T>C (p.Leu963Pro) c.*2816T>C (n.*2816T>C) c.2106+182225T>C (n.2106+182225T>C) c.538T>C | |
3 | g.184326932T>G | CA355413303 | EIF2B5,EIF4G1 | c.3377T>G (p.Leu1126Arg) c.3311T>G (p.Leu1104Arg) c.2724T>G (n.2724T>G) c.2783T>G (p.Leu928Arg) c.3380T>G (p.Leu1127Arg) c.2885T>G (p.Leu962Arg) c.3398T>G (p.Leu1133Arg) c.3116T>G (p.Leu1039Arg) c.3260T>G (p.Leu1087Arg) c.3257T>G (p.Leu1086Arg) c.3119T>G (p.Leu1040Arg) c.2792T>G (p.Leu931Arg) c.2789T>G (p.Leu930Arg) c.2888T>G (p.Leu963Arg) c.*2816T>G (n.*2816T>G) c.2106+182225T>G (n.2106+182225T>G) c.538T>G | |
3 | g.184326933T>A | CA437162112 | EIF2B5,EIF4G1 | c.3378T>A (p.Leu1126=) c.3312T>A (p.Leu1104=) c.2725T>A (n.2725T>A) c.2784T>A (p.Leu928=) c.3381T>A (p.Leu1127=) c.2886T>A (p.Leu962=) c.3399T>A (p.Leu1133=) c.3117T>A (p.Leu1039=) c.3261T>A (p.Leu1087=) c.3258T>A (p.Leu1086=) c.3120T>A (p.Leu1040=) c.2793T>A (p.Leu931=) c.2790T>A (p.Leu930=) c.2889T>A (p.Leu963=) c.*2817T>A (n.*2817T>A) c.2106+182226T>A (n.2106+182226T>A) c.539T>A | |
3 | g.184326933T>C | CA437162114 | EIF2B5,EIF4G1 | c.3378T>C (p.Leu1126=) c.3312T>C (p.Leu1104=) c.2725T>C (n.2725T>C) c.2784T>C (p.Leu928=) c.3381T>C (p.Leu1127=) c.2886T>C (p.Leu962=) c.3399T>C (p.Leu1133=) c.3117T>C (p.Leu1039=) c.3261T>C (p.Leu1087=) c.3258T>C (p.Leu1086=) c.3120T>C (p.Leu1040=) c.2793T>C (p.Leu931=) c.2790T>C (p.Leu930=) c.2889T>C (p.Leu963=) c.*2817T>C (n.*2817T>C) c.2106+182226T>C (n.2106+182226T>C) c.539T>C | gnomAD v4 |
3 | g.184326933T>G | CA437162115 | EIF2B5,EIF4G1 | c.3378T>G (p.Leu1126=) c.3312T>G (p.Leu1104=) c.2725T>G (n.2725T>G) c.2784T>G (p.Leu928=) c.3381T>G (p.Leu1127=) c.2886T>G (p.Leu962=) c.3399T>G (p.Leu1133=) c.3117T>G (p.Leu1039=) c.3261T>G (p.Leu1087=) c.3258T>G (p.Leu1086=) c.3120T>G (p.Leu1040=) c.2793T>G (p.Leu931=) c.2790T>G (p.Leu930=) c.2889T>G (p.Leu963=) c.*2817T>G (n.*2817T>G) c.2106+182226T>G (n.2106+182226T>G) c.539T>G | |
3 | g.184326934C>A | CA355413309 | EIF2B5,EIF4G1 | c.3379C>A (p.Gln1127Lys) c.3313C>A (p.Gln1105Lys) c.2726C>A (n.2726C>A) c.2785C>A (p.Gln929Lys) c.3382C>A (p.Gln1128Lys) c.2887C>A (p.Gln963Lys) c.3400C>A (p.Gln1134Lys) c.3118C>A (p.Gln1040Lys) c.3262C>A (p.Gln1088Lys) c.3259C>A (p.Gln1087Lys) c.3121C>A (p.Gln1041Lys) c.2794C>A (p.Gln932Lys) c.2791C>A (p.Gln931Lys) c.2890C>A (p.Gln964Lys) c.*2818C>A (n.*2818C>A) c.2106+182227C>A (n.2106+182227C>A) c.540C>A | |
3 | g.184326934C>G | CA355413313 | EIF2B5,EIF4G1 | c.3379C>G (p.Gln1127Glu) c.3313C>G (p.Gln1105Glu) c.2726C>G (n.2726C>G) c.2785C>G (p.Gln929Glu) c.3382C>G (p.Gln1128Glu) c.2887C>G (p.Gln963Glu) c.3400C>G (p.Gln1134Glu) c.3118C>G (p.Gln1040Glu) c.3262C>G (p.Gln1088Glu) c.3259C>G (p.Gln1087Glu) c.3121C>G (p.Gln1041Glu) c.2794C>G (p.Gln932Glu) c.2791C>G (p.Gln931Glu) c.2890C>G (p.Gln964Glu) c.*2818C>G (n.*2818C>G) c.2106+182227C>G (n.2106+182227C>G) c.540C>G | gnomAD v4 |
3 | g.184326934C>T | CA355413316 | EIF2B5,EIF4G1 | c.3379C>T (p.Gln1127Ter) c.3313C>T (p.Gln1105Ter) c.2726C>T (n.2726C>T) c.2785C>T (p.Gln929Ter) c.3382C>T (p.Gln1128Ter) c.2887C>T (p.Gln963Ter) c.3400C>T (p.Gln1134Ter) c.3118C>T (p.Gln1040Ter) c.3262C>T (p.Gln1088Ter) c.3259C>T (p.Gln1087Ter) c.3121C>T (p.Gln1041Ter) c.2794C>T (p.Gln932Ter) c.2791C>T (p.Gln931Ter) c.2890C>T (p.Gln964Ter) c.*2818C>T (n.*2818C>T) c.2106+182227C>T (n.2106+182227C>T) c.540C>T | |
3 | g.184326935A>C | CA355413325 | EIF2B5,EIF4G1 | c.3380A>C (p.Gln1127Pro) c.3314A>C (p.Gln1105Pro) c.2727A>C (n.2727A>C) c.2786A>C (p.Gln929Pro) c.3383A>C (p.Gln1128Pro) c.2888A>C (p.Gln963Pro) c.3401A>C (p.Gln1134Pro) c.3119A>C (p.Gln1040Pro) c.3263A>C (p.Gln1088Pro) c.3260A>C (p.Gln1087Pro) c.3122A>C (p.Gln1041Pro) c.2795A>C (p.Gln932Pro) c.2792A>C (p.Gln931Pro) c.2891A>C (p.Gln964Pro) c.*2819A>C (n.*2819A>C) c.2106+182228A>C (n.2106+182228A>C) c.541A>C | gnomAD v4 |
3 | g.184326935A>G | CA355413326 | EIF2B5,EIF4G1 | c.3380A>G (p.Gln1127Arg) c.3314A>G (p.Gln1105Arg) c.2727A>G (n.2727A>G) c.2786A>G (p.Gln929Arg) c.3383A>G (p.Gln1128Arg) c.2888A>G (p.Gln963Arg) c.3401A>G (p.Gln1134Arg) c.3119A>G (p.Gln1040Arg) c.3263A>G (p.Gln1088Arg) c.3260A>G (p.Gln1087Arg) c.3122A>G (p.Gln1041Arg) c.2795A>G (p.Gln932Arg) c.2792A>G (p.Gln931Arg) c.2891A>G (p.Gln964Arg) c.*2819A>G (n.*2819A>G) c.2106+182228A>G (n.2106+182228A>G) c.541A>G | |
3 | g.184326935A>T | CA355413321 | EIF2B5,EIF4G1 | c.3380A>T (p.Gln1127Leu) c.3314A>T (p.Gln1105Leu) c.2727A>T (n.2727A>T) c.2786A>T (p.Gln929Leu) c.3383A>T (p.Gln1128Leu) c.2888A>T (p.Gln963Leu) c.3401A>T (p.Gln1134Leu) c.3119A>T (p.Gln1040Leu) c.3263A>T (p.Gln1088Leu) c.3260A>T (p.Gln1087Leu) c.3122A>T (p.Gln1041Leu) c.2795A>T (p.Gln932Leu) c.2792A>T (p.Gln931Leu) c.2891A>T (p.Gln964Leu) c.*2819A>T (n.*2819A>T) c.2106+182228A>T (n.2106+182228A>T) c.541A>T | |
3 | g.184326936A= | CA1425957795 | EIF2B5,EIF4G1 | c.3381A= (p.Gln1127=) c.3315A= (p.Gln1105=) c.2728A= (n.2728A=) c.2787A= (p.Gln929=) c.3384A= (p.Gln1128=) c.2889A= (p.Gln963=) c.3402A= (p.Gln1134=) c.3120A= (p.Gln1040=) c.3264A= (p.Gln1088=) c.3261A= (p.Gln1087=) c.3123A= (p.Gln1041=) c.2796A= (p.Gln932=) c.2793A= (p.Gln931=) c.2892A= (p.Gln964=) c.*2820A= (n.*2820A=) c.2106+182229A= (n.2106+182229A=) c.542A= | |
3 | g.184326936A>C | CA355413331 | EIF2B5,EIF4G1 | c.3381A>C (p.Gln1127His) c.3315A>C (p.Gln1105His) c.2728A>C (n.2728A>C) c.2787A>C (p.Gln929His) c.3384A>C (p.Gln1128His) c.2889A>C (p.Gln963His) c.3402A>C (p.Gln1134His) c.3120A>C (p.Gln1040His) c.3264A>C (p.Gln1088His) c.3261A>C (p.Gln1087His) c.3123A>C (p.Gln1041His) c.2796A>C (p.Gln932His) c.2793A>C (p.Gln931His) c.2892A>C (p.Gln964His) c.*2820A>C (n.*2820A>C) c.2106+182229A>C (n.2106+182229A>C) c.542A>C | |
3 | g.184326936A>G | CA437162118 | EIF2B5,EIF4G1 | c.3381A>G (p.Gln1127=) c.3315A>G (p.Gln1105=) c.2728A>G (n.2728A>G) c.2787A>G (p.Gln929=) c.3384A>G (p.Gln1128=) c.2889A>G (p.Gln963=) c.3402A>G (p.Gln1134=) c.3120A>G (p.Gln1040=) c.3264A>G (p.Gln1088=) c.3261A>G (p.Gln1087=) c.3123A>G (p.Gln1041=) c.2796A>G (p.Gln932=) c.2793A>G (p.Gln931=) c.2892A>G (p.Gln964=) c.*2820A>G (n.*2820A>G) c.2106+182229A>G (n.2106+182229A>G) c.542A>G | dbSNP gnomAD v3 gnomAD v4 |
3 | g.184326936A>T | CA355413333 | EIF2B5,EIF4G1 | c.3381A>T (p.Gln1127His) c.3315A>T (p.Gln1105His) c.2728A>T (n.2728A>T) c.2787A>T (p.Gln929His) c.3384A>T (p.Gln1128His) c.2889A>T (p.Gln963His) c.3402A>T (p.Gln1134His) c.3120A>T (p.Gln1040His) c.3264A>T (p.Gln1088His) c.3261A>T (p.Gln1087His) c.3123A>T (p.Gln1041His) c.2796A>T (p.Gln932His) c.2793A>T (p.Gln931His) c.2892A>T (p.Gln964His) c.*2820A>T (n.*2820A>T) c.2106+182229A>T (n.2106+182229A>T) c.542A>T | |
3 | g.184326937C>A | CA355413337 | EIF2B5,EIF4G1 | c.3382C>A (p.Gln1128Lys) c.3316C>A (p.Gln1106Lys) c.2729C>A (n.2729C>A) c.2788C>A (p.Gln930Lys) c.3385C>A (p.Gln1129Lys) c.2890C>A (p.Gln964Lys) c.3403C>A (p.Gln1135Lys) c.3121C>A (p.Gln1041Lys) c.3265C>A (p.Gln1089Lys) c.3262C>A (p.Gln1088Lys) c.3124C>A (p.Gln1042Lys) c.2797C>A (p.Gln933Lys) c.2794C>A (p.Gln932Lys) c.2893C>A (p.Gln965Lys) c.*2821C>A (n.*2821C>A) c.2106+182230C>A (n.2106+182230C>A) c.543C>A | |
3 | g.184326937C>G | CA355413340 | EIF2B5,EIF4G1 | c.3382C>G (p.Gln1128Glu) c.3316C>G (p.Gln1106Glu) c.2729C>G (n.2729C>G) c.2788C>G (p.Gln930Glu) c.3385C>G (p.Gln1129Glu) c.2890C>G (p.Gln964Glu) c.3403C>G (p.Gln1135Glu) c.3121C>G (p.Gln1041Glu) c.3265C>G (p.Gln1089Glu) c.3262C>G (p.Gln1088Glu) c.3124C>G (p.Gln1042Glu) c.2797C>G (p.Gln933Glu) c.2794C>G (p.Gln932Glu) c.2893C>G (p.Gln965Glu) c.*2821C>G (n.*2821C>G) c.2106+182230C>G (n.2106+182230C>G) c.543C>G | |
3 | g.184326937C>T | CA355413344 | EIF2B5,EIF4G1 | c.3382C>T (p.Gln1128Ter) c.3316C>T (p.Gln1106Ter) c.2729C>T (n.2729C>T) c.2788C>T (p.Gln930Ter) c.3385C>T (p.Gln1129Ter) c.2890C>T (p.Gln964Ter) c.3403C>T (p.Gln1135Ter) c.3121C>T (p.Gln1041Ter) c.3265C>T (p.Gln1089Ter) c.3262C>T (p.Gln1088Ter) c.3124C>T (p.Gln1042Ter) c.2797C>T (p.Gln933Ter) c.2794C>T (p.Gln932Ter) c.2893C>T (p.Gln965Ter) c.*2821C>T (n.*2821C>T) c.2106+182230C>T (n.2106+182230C>T) c.543C>T | |
3 | g.184326938A>C | CA355413348 | EIF2B5,EIF4G1 | c.3383A>C (p.Gln1128Pro) c.3317A>C (p.Gln1106Pro) c.2730A>C (n.2730A>C) c.2789A>C (p.Gln930Pro) c.3386A>C (p.Gln1129Pro) c.2891A>C (p.Gln964Pro) c.3404A>C (p.Gln1135Pro) c.3122A>C (p.Gln1041Pro) c.3266A>C (p.Gln1089Pro) c.3263A>C (p.Gln1088Pro) c.3125A>C (p.Gln1042Pro) c.2798A>C (p.Gln933Pro) c.2795A>C (p.Gln932Pro) c.2894A>C (p.Gln965Pro) c.*2822A>C (n.*2822A>C) c.2106+182231A>C (n.2106+182231A>C) c.544A>C | |
3 | g.184326938A>G | CA355413351 | EIF2B5,EIF4G1 | c.3383A>G (p.Gln1128Arg) c.3317A>G (p.Gln1106Arg) c.2730A>G (n.2730A>G) c.2789A>G (p.Gln930Arg) c.3386A>G (p.Gln1129Arg) c.2891A>G (p.Gln964Arg) c.3404A>G (p.Gln1135Arg) c.3122A>G (p.Gln1041Arg) c.3266A>G (p.Gln1089Arg) c.3263A>G (p.Gln1088Arg) c.3125A>G (p.Gln1042Arg) c.2798A>G (p.Gln933Arg) c.2795A>G (p.Gln932Arg) c.2894A>G (p.Gln965Arg) c.*2822A>G (n.*2822A>G) c.2106+182231A>G (n.2106+182231A>G) c.544A>G | |
3 | g.184326938A>T | CA355413356 | EIF2B5,EIF4G1 | c.3383A>T (p.Gln1128Leu) c.3317A>T (p.Gln1106Leu) c.2730A>T (n.2730A>T) c.2789A>T (p.Gln930Leu) c.3386A>T (p.Gln1129Leu) c.2891A>T (p.Gln964Leu) c.3404A>T (p.Gln1135Leu) c.3122A>T (p.Gln1041Leu) c.3266A>T (p.Gln1089Leu) c.3263A>T (p.Gln1088Leu) c.3125A>T (p.Gln1042Leu) c.2798A>T (p.Gln933Leu) c.2795A>T (p.Gln932Leu) c.2894A>T (p.Gln965Leu) c.*2822A>T (n.*2822A>T) c.2106+182231A>T (n.2106+182231A>T) c.544A>T | |
3 | g.184326939A= | CA1425957798 | EIF2B5,EIF4G1 | c.3384A= (p.Gln1128=) c.3318A= (p.Gln1106=) c.2731A= (n.2731A=) c.2790A= (p.Gln930=) c.3387A= (p.Gln1129=) c.2892A= (p.Gln964=) c.3405A= (p.Gln1135=) c.3123A= (p.Gln1041=) c.3267A= (p.Gln1089=) c.3264A= (p.Gln1088=) c.3126A= (p.Gln1042=) c.2799A= (p.Gln933=) c.2796A= (p.Gln932=) c.2895A= (p.Gln965=) c.*2823A= (n.*2823A=) c.2106+182232A= (n.2106+182232A=) c.545A= | |
3 | g.184326939A>C | CA355413360 | EIF2B5,EIF4G1 | c.3384A>C (p.Gln1128His) c.3318A>C (p.Gln1106His) c.2731A>C (n.2731A>C) c.2790A>C (p.Gln930His) c.3387A>C (p.Gln1129His) c.2892A>C (p.Gln964His) c.3405A>C (p.Gln1135His) c.3123A>C (p.Gln1041His) c.3267A>C (p.Gln1089His) c.3264A>C (p.Gln1088His) c.3126A>C (p.Gln1042His) c.2799A>C (p.Gln933His) c.2796A>C (p.Gln932His) c.2895A>C (p.Gln965His) c.*2823A>C (n.*2823A>C) c.2106+182232A>C (n.2106+182232A>C) c.545A>C | |
3 | g.184326939A>G | CA437162119 | EIF2B5,EIF4G1 | c.3384A>G (p.Gln1128=) c.3318A>G (p.Gln1106=) c.2731A>G (n.2731A>G) c.2790A>G (p.Gln930=) c.3387A>G (p.Gln1129=) c.2892A>G (p.Gln964=) c.3405A>G (p.Gln1135=) c.3123A>G (p.Gln1041=) c.3267A>G (p.Gln1089=) c.3264A>G (p.Gln1088=) c.3126A>G (p.Gln1042=) c.2799A>G (p.Gln933=) c.2796A>G (p.Gln932=) c.2895A>G (p.Gln965=) c.*2823A>G (n.*2823A>G) c.2106+182232A>G (n.2106+182232A>G) c.545A>G | dbSNP gnomAD v4 |
3 | g.184326939A>T | CA355413363 | EIF2B5,EIF4G1 | c.3384A>T (p.Gln1128His) c.3318A>T (p.Gln1106His) c.2731A>T (n.2731A>T) c.2790A>T (p.Gln930His) c.3387A>T (p.Gln1129His) c.2892A>T (p.Gln964His) c.3405A>T (p.Gln1135His) c.3123A>T (p.Gln1041His) c.3267A>T (p.Gln1089His) c.3264A>T (p.Gln1088His) c.3126A>T (p.Gln1042His) c.2799A>T (p.Gln933His) c.2796A>T (p.Gln932His) c.2895A>T (p.Gln965His) c.*2823A>T (n.*2823A>T) c.2106+182232A>T (n.2106+182232A>T) c.545A>T | |
3 | g.184326940G>A | CA355413365 | EIF2B5,EIF4G1 | c.3385G>A (p.Ala1129Thr) c.3319G>A (p.Ala1107Thr) c.2732G>A (n.2732G>A) c.2791G>A (p.Ala931Thr) c.3388G>A (p.Ala1130Thr) c.2893G>A (p.Ala965Thr) c.3406G>A (p.Ala1136Thr) c.3124G>A (p.Ala1042Thr) c.3268G>A (p.Ala1090Thr) c.3265G>A (p.Ala1089Thr) c.3127G>A (p.Ala1043Thr) c.2800G>A (p.Ala934Thr) c.2797G>A (p.Ala933Thr) c.2896G>A (p.Ala966Thr) c.*2824G>A (n.*2824G>A) c.2106+182233G>A (n.2106+182233G>A) c.546G>A | |
3 | g.184326940G>C | CA355413367 | EIF2B5,EIF4G1 | c.3385G>C (p.Ala1129Pro) c.3319G>C (p.Ala1107Pro) c.2732G>C (n.2732G>C) c.2791G>C (p.Ala931Pro) c.3388G>C (p.Ala1130Pro) c.2893G>C (p.Ala965Pro) c.3406G>C (p.Ala1136Pro) c.3124G>C (p.Ala1042Pro) c.3268G>C (p.Ala1090Pro) c.3265G>C (p.Ala1089Pro) c.3127G>C (p.Ala1043Pro) c.2800G>C (p.Ala934Pro) c.2797G>C (p.Ala933Pro) c.2896G>C (p.Ala966Pro) c.*2824G>C (n.*2824G>C) c.2106+182233G>C (n.2106+182233G>C) c.546G>C | |
3 | g.184326940G>T | CA355413371 | EIF2B5,EIF4G1 | c.3385G>T (p.Ala1129Ser) c.3319G>T (p.Ala1107Ser) c.2732G>T (n.2732G>T) c.2791G>T (p.Ala931Ser) c.3388G>T (p.Ala1130Ser) c.2893G>T (p.Ala965Ser) c.3406G>T (p.Ala1136Ser) c.3124G>T (p.Ala1042Ser) c.3268G>T (p.Ala1090Ser) c.3265G>T (p.Ala1089Ser) c.3127G>T (p.Ala1043Ser) c.2800G>T (p.Ala934Ser) c.2797G>T (p.Ala933Ser) c.2896G>T (p.Ala966Ser) c.*2824G>T (n.*2824G>T) c.2106+182233G>T (n.2106+182233G>T) c.546G>T | |
3 | g.184326941C>A | CA355413381 | EIF2B5,EIF4G1 | c.3386C>A (p.Ala1129Glu) c.3320C>A (p.Ala1107Glu) c.2733C>A (n.2733C>A) c.2792C>A (p.Ala931Glu) c.3389C>A (p.Ala1130Glu) c.2894C>A (p.Ala965Glu) c.3407C>A (p.Ala1136Glu) c.3125C>A (p.Ala1042Glu) c.3269C>A (p.Ala1090Glu) c.3266C>A (p.Ala1089Glu) c.3128C>A (p.Ala1043Glu) c.2801C>A (p.Ala934Glu) c.2798C>A (p.Ala933Glu) c.2897C>A (p.Ala966Glu) c.*2825C>A (n.*2825C>A) c.2106+182234C>A (n.2106+182234C>A) c.547C>A | |
3 | g.184326941C= | CA1425957801 | EIF2B5,EIF4G1 | c.3386C= (p.Ala1129=) c.3320C= (p.Ala1107=) c.2733C= (n.2733C=) c.2792C= (p.Ala931=) c.3389C= (p.Ala1130=) c.2894C= (p.Ala965=) c.3407C= (p.Ala1136=) c.3125C= (p.Ala1042=) c.3269C= (p.Ala1090=) c.3266C= (p.Ala1089=) c.3128C= (p.Ala1043=) c.2801C= (p.Ala934=) c.2798C= (p.Ala933=) c.2897C= (p.Ala966=) c.*2825C= (n.*2825C=) c.2106+182234C= (n.2106+182234C=) c.547C= | |
3 | g.184326941C>G | CA355413377 | EIF2B5,EIF4G1 | c.3386C>G (p.Ala1129Gly) c.3320C>G (p.Ala1107Gly) c.2733C>G (n.2733C>G) c.2792C>G (p.Ala931Gly) c.3389C>G (p.Ala1130Gly) c.2894C>G (p.Ala965Gly) c.3407C>G (p.Ala1136Gly) c.3125C>G (p.Ala1042Gly) c.3269C>G (p.Ala1090Gly) c.3266C>G (p.Ala1089Gly) c.3128C>G (p.Ala1043Gly) c.2801C>G (p.Ala934Gly) c.2798C>G (p.Ala933Gly) c.2897C>G (p.Ala966Gly) c.*2825C>G (n.*2825C>G) c.2106+182234C>G (n.2106+182234C>G) c.547C>G | |
3 | g.184326941C>T | CA2732774 | EIF2B5,EIF4G1 | c.3386C>T (p.Ala1129Val) c.3320C>T (p.Ala1107Val) c.2733C>T (n.2733C>T) c.2792C>T (p.Ala931Val) c.3389C>T (p.Ala1130Val) c.2894C>T (p.Ala965Val) c.3407C>T (p.Ala1136Val) c.3125C>T (p.Ala1042Val) c.3269C>T (p.Ala1090Val) c.3266C>T (p.Ala1089Val) c.3128C>T (p.Ala1043Val) c.2801C>T (p.Ala934Val) c.2798C>T (p.Ala933Val) c.2897C>T (p.Ala966Val) c.*2825C>T (n.*2825C>T) c.2106+182234C>T (n.2106+182234C>T) c.547C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
3 | g.184326942G>A | CA2732775 | EIF2B5,EIF4G1 | c.3387G>A (p.Ala1129=) c.3321G>A (p.Ala1107=) c.2734G>A (n.2734G>A) c.2793G>A (p.Ala931=) c.3390G>A (p.Ala1130=) c.2895G>A (p.Ala965=) c.3408G>A (p.Ala1136=) c.3126G>A (p.Ala1042=) c.3270G>A (p.Ala1090=) c.3267G>A (p.Ala1089=) c.3129G>A (p.Ala1043=) c.2802G>A (p.Ala934=) c.2799G>A (p.Ala933=) c.2898G>A (p.Ala966=) c.*2826G>A (n.*2826G>A) c.2106+182235G>A (n.2106+182235G>A) c.548G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.184326942G>C | CA437162120 | EIF2B5,EIF4G1 | c.3387G>C (p.Ala1129=) c.3321G>C (p.Ala1107=) c.2734G>C (n.2734G>C) c.2793G>C (p.Ala931=) c.3390G>C (p.Ala1130=) c.2895G>C (p.Ala965=) c.3408G>C (p.Ala1136=) c.3126G>C (p.Ala1042=) c.3270G>C (p.Ala1090=) c.3267G>C (p.Ala1089=) c.3129G>C (p.Ala1043=) c.2802G>C (p.Ala934=) c.2799G>C (p.Ala933=) c.2898G>C (p.Ala966=) c.*2826G>C (n.*2826G>C) c.2106+182235G>C (n.2106+182235G>C) c.548G>C | |
3 | g.184326942G= | CA1425957804 | EIF2B5,EIF4G1 | c.3387G= (p.Ala1129=) c.3321G= (p.Ala1107=) c.2734G= (n.2734G=) c.2793G= (p.Ala931=) c.3390G= (p.Ala1130=) c.2895G= (p.Ala965=) c.3408G= (p.Ala1136=) c.3126G= (p.Ala1042=) c.3270G= (p.Ala1090=) c.3267G= (p.Ala1089=) c.3129G= (p.Ala1043=) c.2802G= (p.Ala934=) c.2799G= (p.Ala933=) c.2898G= (p.Ala966=) c.*2826G= (n.*2826G=) c.2106+182235G= (n.2106+182235G=) c.548G= | |
3 | g.184326942G>T | CA437162121 | EIF2B5,EIF4G1 | c.3387G>T (p.Ala1129=) c.3321G>T (p.Ala1107=) c.2734G>T (n.2734G>T) c.2793G>T (p.Ala931=) c.3390G>T (p.Ala1130=) c.2895G>T (p.Ala965=) c.3408G>T (p.Ala1136=) c.3126G>T (p.Ala1042=) c.3270G>T (p.Ala1090=) c.3267G>T (p.Ala1089=) c.3129G>T (p.Ala1043=) c.2802G>T (p.Ala934=) c.2799G>T (p.Ala933=) c.2898G>T (p.Ala966=) c.*2826G>T (n.*2826G>T) c.2106+182235G>T (n.2106+182235G>T) c.548G>T | ClinVar |
3 | g.184326943G>A | CA355413389 | EIF2B5,EIF4G1 | c.3388G>A (p.Val1130Ile) c.3322G>A (p.Val1108Ile) c.2735G>A (n.2735G>A) c.2794G>A (p.Val932Ile) c.3391G>A (p.Val1131Ile) c.2896G>A (p.Val966Ile) c.3409G>A (p.Val1137Ile) c.3127G>A (p.Val1043Ile) c.3271G>A (p.Val1091Ile) c.3268G>A (p.Val1090Ile) c.3130G>A (p.Val1044Ile) c.2803G>A (p.Val935Ile) c.2800G>A (p.Val934Ile) c.2899G>A (p.Val967Ile) c.*2827G>A (n.*2827G>A) c.2106+182236G>A (n.2106+182236G>A) c.549G>A | |
3 | g.184326943G>C | CA355413391 | EIF2B5,EIF4G1 | c.3388G>C (p.Val1130Leu) c.3322G>C (p.Val1108Leu) c.2735G>C (n.2735G>C) c.2794G>C (p.Val932Leu) c.3391G>C (p.Val1131Leu) c.2896G>C (p.Val966Leu) c.3409G>C (p.Val1137Leu) c.3127G>C (p.Val1043Leu) c.3271G>C (p.Val1091Leu) c.3268G>C (p.Val1090Leu) c.3130G>C (p.Val1044Leu) c.2803G>C (p.Val935Leu) c.2800G>C (p.Val934Leu) c.2899G>C (p.Val967Leu) c.*2827G>C (n.*2827G>C) c.2106+182236G>C (n.2106+182236G>C) c.549G>C | |
3 | g.184326943G= | CA1425957807 | EIF2B5,EIF4G1 | c.3388G= (p.Val1130=) c.3322G= (p.Val1108=) c.2735G= (n.2735G=) c.2794G= (p.Val932=) c.3391G= (p.Val1131=) c.2896G= (p.Val966=) c.3409G= (p.Val1137=) c.3127G= (p.Val1043=) c.3271G= (p.Val1091=) c.3268G= (p.Val1090=) c.3130G= (p.Val1044=) c.2803G= (p.Val935=) c.2800G= (p.Val934=) c.2899G= (p.Val967=) c.*2827G= (n.*2827G=) c.2106+182236G= (n.2106+182236G=) c.549G= | |
3 | g.184326943G>T | CA355413395 | EIF2B5,EIF4G1 | c.3388G>T (p.Val1130Leu) c.3322G>T (p.Val1108Leu) c.2735G>T (n.2735G>T) c.2794G>T (p.Val932Leu) c.3391G>T (p.Val1131Leu) c.2896G>T (p.Val966Leu) c.3409G>T (p.Val1137Leu) c.3127G>T (p.Val1043Leu) c.3271G>T (p.Val1091Leu) c.3268G>T (p.Val1090Leu) c.3130G>T (p.Val1044Leu) c.2803G>T (p.Val935Leu) c.2800G>T (p.Val934Leu) c.2899G>T (p.Val967Leu) c.*2827G>T (n.*2827G>T) c.2106+182236G>T (n.2106+182236G>T) c.549G>T | dbSNP gnomAD v2 gnomAD v4 |
3 | g.184326944T>A | CA355413398 | EIF2B5,EIF4G1 | c.3389T>A (p.Val1130Glu) c.3323T>A (p.Val1108Glu) c.2736T>A (n.2736T>A) c.2795T>A (p.Val932Glu) c.3392T>A (p.Val1131Glu) c.2897T>A (p.Val966Glu) c.3410T>A (p.Val1137Glu) c.3128T>A (p.Val1043Glu) c.3272T>A (p.Val1091Glu) c.3269T>A (p.Val1090Glu) c.3131T>A (p.Val1044Glu) c.2804T>A (p.Val935Glu) c.2801T>A (p.Val934Glu) c.2900T>A (p.Val967Glu) c.*2828T>A (n.*2828T>A) c.2106+182237T>A (n.2106+182237T>A) c.550T>A | |
3 | g.184326944T>C | CA355413401 | EIF2B5,EIF4G1 | c.3389T>C (p.Val1130Ala) c.3323T>C (p.Val1108Ala) c.2736T>C (n.2736T>C) c.2795T>C (p.Val932Ala) c.3392T>C (p.Val1131Ala) c.2897T>C (p.Val966Ala) c.3410T>C (p.Val1137Ala) c.3128T>C (p.Val1043Ala) c.3272T>C (p.Val1091Ala) c.3269T>C (p.Val1090Ala) c.3131T>C (p.Val1044Ala) c.2804T>C (p.Val935Ala) c.2801T>C (p.Val934Ala) c.2900T>C (p.Val967Ala) c.*2828T>C (n.*2828T>C) c.2106+182237T>C (n.2106+182237T>C) c.550T>C | |
3 | g.184326944T>G | CA355413403 | EIF2B5,EIF4G1 | c.3389T>G (p.Val1130Gly) c.3323T>G (p.Val1108Gly) c.2736T>G (n.2736T>G) c.2795T>G (p.Val932Gly) c.3392T>G (p.Val1131Gly) c.2897T>G (p.Val966Gly) c.3410T>G (p.Val1137Gly) c.3128T>G (p.Val1043Gly) c.3272T>G (p.Val1091Gly) c.3269T>G (p.Val1090Gly) c.3131T>G (p.Val1044Gly) c.2804T>G (p.Val935Gly) c.2801T>G (p.Val934Gly) c.2900T>G (p.Val967Gly) c.*2828T>G (n.*2828T>G) c.2106+182237T>G (n.2106+182237T>G) c.550T>G | |
3 | g.184326945A= | CA1425957810 | EIF2B5,EIF4G1 | c.3390A= (p.Val1130=) c.3324A= (p.Val1108=) c.2737A= (n.2737A=) c.2796A= (p.Val932=) c.3393A= (p.Val1131=) c.2898A= (p.Val966=) c.3411A= (p.Val1137=) c.3129A= (p.Val1043=) c.3273A= (p.Val1091=) c.3270A= (p.Val1090=) c.3132A= (p.Val1044=) c.2805A= (p.Val935=) c.2802A= (p.Val934=) c.2901A= (p.Val967=) c.*2829A= (n.*2829A=) c.2106+182238A= (n.2106+182238A=) c.551A= | |
3 | g.184326945A>C | CA437162127 | EIF2B5,EIF4G1 | c.3390A>C (p.Val1130=) c.3324A>C (p.Val1108=) c.2737A>C (n.2737A>C) c.2796A>C (p.Val932=) c.3393A>C (p.Val1131=) c.2898A>C (p.Val966=) c.3411A>C (p.Val1137=) c.3129A>C (p.Val1043=) c.3273A>C (p.Val1091=) c.3270A>C (p.Val1090=) c.3132A>C (p.Val1044=) c.2805A>C (p.Val935=) c.2802A>C (p.Val934=) c.2901A>C (p.Val967=) c.*2829A>C (n.*2829A>C) c.2106+182238A>C (n.2106+182238A>C) c.551A>C | gnomAD v4 |
3 | g.184326945A>G | CA437162126 | EIF2B5,EIF4G1 | c.3390A>G (p.Val1130=) c.3324A>G (p.Val1108=) c.2737A>G (n.2737A>G) c.2796A>G (p.Val932=) c.3393A>G (p.Val1131=) c.2898A>G (p.Val966=) c.3411A>G (p.Val1137=) c.3129A>G (p.Val1043=) c.3273A>G (p.Val1091=) c.3270A>G (p.Val1090=) c.3132A>G (p.Val1044=) c.2805A>G (p.Val935=) c.2802A>G (p.Val934=) c.2901A>G (p.Val967=) c.*2829A>G (n.*2829A>G) c.2106+182238A>G (n.2106+182238A>G) c.551A>G | dbSNP gnomAD v2 gnomAD v4 |
3 | g.184326945A>T | CA437162128 | EIF2B5,EIF4G1 | c.3390A>T (p.Val1130=) c.3324A>T (p.Val1108=) c.2737A>T (n.2737A>T) c.2796A>T (p.Val932=) c.3393A>T (p.Val1131=) c.2898A>T (p.Val966=) c.3411A>T (p.Val1137=) c.3129A>T (p.Val1043=) c.3273A>T (p.Val1091=) c.3270A>T (p.Val1090=) c.3132A>T (p.Val1044=) c.2805A>T (p.Val935=) c.2802A>T (p.Val934=) c.2901A>T (p.Val967=) c.*2829A>T (n.*2829A>T) c.2106+182238A>T (n.2106+182238A>T) c.551A>T | |
3 | g.184326946C>A | CA355413407 | EIF2B5,EIF4G1 | c.3391C>A (p.Pro1131Thr) c.3325C>A (p.Pro1109Thr) c.2738C>A (n.2738C>A) c.2797C>A (p.Pro933Thr) c.3394C>A (p.Pro1132Thr) c.2899C>A (p.Pro967Thr) c.3412C>A (p.Pro1138Thr) c.3130C>A (p.Pro1044Thr) c.3274C>A (p.Pro1092Thr) c.3271C>A (p.Pro1091Thr) c.3133C>A (p.Pro1045Thr) c.2806C>A (p.Pro936Thr) c.2803C>A (p.Pro935Thr) c.2902C>A (p.Pro968Thr) c.*2830C>A (n.*2830C>A) c.2106+182239C>A (n.2106+182239C>A) c.552C>A | |
3 | g.184326946C= | CA1425957813 | EIF2B5,EIF4G1 | c.3391C= (p.Pro1131=) c.3325C= (p.Pro1109=) c.2738C= (n.2738C=) c.2797C= (p.Pro933=) c.3394C= (p.Pro1132=) c.2899C= (p.Pro967=) c.3412C= (p.Pro1138=) c.3130C= (p.Pro1044=) c.3274C= (p.Pro1092=) c.3271C= (p.Pro1091=) c.3133C= (p.Pro1045=) c.2806C= (p.Pro936=) c.2803C= (p.Pro935=) c.2902C= (p.Pro968=) c.*2830C= (n.*2830C=) c.2106+182239C= (n.2106+182239C=) c.552C= | |
3 | g.184326946C>G | CA355413411 | EIF2B5,EIF4G1 | c.3391C>G (p.Pro1131Ala) c.3325C>G (p.Pro1109Ala) c.2738C>G (n.2738C>G) c.2797C>G (p.Pro933Ala) c.3394C>G (p.Pro1132Ala) c.2899C>G (p.Pro967Ala) c.3412C>G (p.Pro1138Ala) c.3130C>G (p.Pro1044Ala) c.3274C>G (p.Pro1092Ala) c.3271C>G (p.Pro1091Ala) c.3133C>G (p.Pro1045Ala) c.2806C>G (p.Pro936Ala) c.2803C>G (p.Pro935Ala) c.2902C>G (p.Pro968Ala) c.*2830C>G (n.*2830C>G) c.2106+182239C>G (n.2106+182239C>G) c.552C>G | |
3 | g.184326946C>T | CA2732776 | EIF2B5,EIF4G1 | c.3391C>T (p.Pro1131Ser) c.3325C>T (p.Pro1109Ser) c.2738C>T (n.2738C>T) c.2797C>T (p.Pro933Ser) c.3394C>T (p.Pro1132Ser) c.2899C>T (p.Pro967Ser) c.3412C>T (p.Pro1138Ser) c.3130C>T (p.Pro1044Ser) c.3274C>T (p.Pro1092Ser) c.3271C>T (p.Pro1091Ser) c.3133C>T (p.Pro1045Ser) c.2806C>T (p.Pro936Ser) c.2803C>T (p.Pro935Ser) c.2902C>T (p.Pro968Ser) c.*2830C>T (n.*2830C>T) c.2106+182239C>T (n.2106+182239C>T) c.552C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.184326947C>A | CA355413418 | EIF2B5,EIF4G1 | c.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 |
3 | g.184326947C>G | CA355413420 | EIF2B5,EIF4G1 | c.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 | |
3 | g.184326947C>T | CA355413422 | EIF2B5,EIF4G1 | c.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 |
3 | g.184326948C>A | CA437162129 | EIF2B5,EIF4G1 | c.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 | |
3 | g.184326948C>G | CA437162130 | EIF2B5,EIF4G1 | c.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 | |
3 | g.184326948C>T | CA437162131 | EIF2B5,EIF4G1 | c.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 | |
3 | g.184326949A>C | CA355413435 | EIF2B5,EIF4G1 | c.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 |
3 | g.184326949A>G | CA355413431 | EIF2B5,EIF4G1 | c.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 | |
3 | g.184326949A>T | CA355413427 | EIF2B5,EIF4G1 | c.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 | |
3 | g.184326950C>A | CA355413441 | EIF2B5,EIF4G1 | c.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 | |
3 | g.184326950C>G | CA355413446 | EIF2B5,EIF4G1 | c.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 | |
3 | g.184326950C>T | CA355413442 | EIF2B5,EIF4G1 | c.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 | |
3 | g.184326951A= | CA1425957815 | EIF2B5,EIF4G1 | c.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= | |
3 | g.184326951A>C | CA437162135 | EIF2B5,EIF4G1 | c.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 | |
3 | g.184326951A>G | CA437162136 | EIF2B5,EIF4G1 | c.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 |
3 | g.184326951A>T | CA437162137 | EIF2B5,EIF4G1 | c.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 | |
3 | g.184326952G>A | CA355413451 | EIF2B5,EIF4G1 | c.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 | |
3 | g.184326952G>C | CA355413453 | EIF2B5,EIF4G1 | c.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 | |
3 | g.184326952G>T | CA355413456 | EIF2B5,EIF4G1 | c.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 |
3 | g.184326953A>C | CA355413461 | EIF2B5,EIF4G1 | c.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 | |
3 | g.184326953A>G | CA355413464 | EIF2B5,EIF4G1 | c.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 | |
3 | g.184326953A>T | CA355413466 | EIF2B5,EIF4G1 | c.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 | |
3 | g.184326954A>C | CA355413471 | EIF2B5,EIF4G1 | c.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 | |
3 | g.184326954A>G | CA437162141 | EIF2B5,EIF4G1 | c.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 | |
3 | g.184326954A>T | CA355413473 | EIF2B5,EIF4G1 | c.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 | |
3 | g.184326955A>C | CA355413478 | EIF2B5,EIF4G1 | c.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 | |
3 | g.184326955A>G | CA355413480 | EIF2B5,EIF4G1 | c.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 | |
3 | g.184326955A>T | CA355413483 | EIF2B5,EIF4G1 | c.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 | |
3 | g.184326956G>A | CA355413487 | EIF2B5,EIF4G1 | c.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 | |
3 | g.184326956G>C | CA355413490 | EIF2B5,EIF4G1 | c.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 | |
3 | g.184326956G>T | CA355413492 | EIF2B5,EIF4G1 | c.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 | |
3 | g.184326957C>A | CA355413497 | EIF2B5,EIF4G1 | c.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 | |
3 | g.184326957C>G | CA355413499 | EIF2B5,EIF4G1 | c.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 | |
3 | g.184326957C>T | CA437162143 | EIF2B5,EIF4G1 | c.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 |
3 | g.184326958A= | CA1425957817 | EIF2B5,EIF4G1 | c.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= | |
3 | g.184326958A>C | CA355413502 | EIF2B5,EIF4G1 | c.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 | |
3 | g.184326958A>G | CA2732777 | EIF2B5,EIF4G1 | c.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 |
3 | g.184326958A>T | CA355413509 | EIF2B5,EIF4G1 | c.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 | |
3 | g.184326959C>A | CA355413513 | EIF2B5,EIF4G1 | c.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 | |
3 | g.184326959C>G | CA355413514 | EIF2B5,EIF4G1 | c.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 | |
3 | g.184326959C>T | CA355413520 | EIF2B5,EIF4G1 | c.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 | |
3 | g.184326960A= | CA1425957821 | EIF2B5,EIF4G1 | c.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= | |
3 | g.184326960A>C | CA437162146 | EIF2B5,EIF4G1 | c.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 | |
3 | g.184326960A>G | CA437162147 | EIF2B5,EIF4G1 | c.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 |
3 | g.184326960A>T | CA437162148 | EIF2B5,EIF4G1 | c.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 | |
3 | g.184326961G>A | CA355413523 | EIF2B5,EIF4G1 | c.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 | |
3 | g.184326961G>C | CA2732778 | EIF2B5,EIF4G1 | c.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 |
3 | g.184326961G= | CA1425957826 | EIF2B5,EIF4G1 | c.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= | |
3 | g.184326961G>T | CA355413532 | EIF2B5,EIF4G1 | c.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 | |
3 | g.184326962A>C | CA355413536 | EIF2B5,EIF4G1 | c.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 | |
3 | g.184326962A>G | CA355413540 | EIF2B5,EIF4G1 | c.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 | |
3 | g.184326962A>T | CA355413547 | EIF2B5,EIF4G1 | c.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 | |
3 | g.184326963T>A | CA355413550 | EIF2B5,EIF4G1 | c.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 | |
3 | g.184326963T>C | CA437162151 | EIF2B5,EIF4G1 | c.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 | |
3 | g.184326963T>G | CA355413553 | EIF2B5,EIF4G1 | c.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 | |
3 | g.184326964A>C | CA355413557 | EIF2B5,EIF4G1 | c.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 |
3 | g.184326964A>G | CA355413558 | EIF2B5,EIF4G1 | c.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 |
3 | g.184326964A>T | CA355413559 | EIF2B5,EIF4G1 | c.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 | |
3 | g.184326965A>C | CA355413560 | EIF2B5,EIF4G1 | c.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 | |
3 | g.184326965A>G | CA355413562 | EIF2B5,EIF4G1 | c.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 | |
3 | g.184326965A>T | CA355413564 | EIF2B5,EIF4G1 | c.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 | |
3 | g.184326966T>A | CA355413566 | EIF2B5,EIF4G1 | c.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 | |
3 | g.184326966T>C | CA2732779 | EIF2B5,EIF4G1 | c.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 |
3 | g.184326966T>G | CA355413569 | EIF2B5,EIF4G1 | c.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 | |
3 | g.184326966T= | CA1425957832 | EIF2B5,EIF4G1 | c.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= | |
3 | g.184326967A>C | CA437162155 | EIF2B5,EIF4G1 | c.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 | |
3 | g.184326967A>G | CA355413574 | EIF2B5,EIF4G1 | c.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 | |
3 | g.184326967A>T | CA355413576 | EIF2B5,EIF4G1 | c.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 | |
3 | g.184326968G>A | CA355413581 | EIF2B5,EIF4G1 | c.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 |
3 | g.184326968G>C | CA355413584 | EIF2B5,EIF4G1 | c.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 | |
3 | g.184326968G= | CA1425957834 | EIF2B5,EIF4G1 | c.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= | |
3 | g.184326968G>T | CA355413586 | EIF2B5,EIF4G1 | c.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 | |
3 | g.184326969A>C | CA355413591 | EIF2B5,EIF4G1 | c.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 | |
3 | g.184326969A>G | CA437162156 | EIF2B5,EIF4G1 | c.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 | |
3 | g.184326969A>T | CA355413593 | EIF2B5,EIF4G1 | c.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 | |
3 | g.184326970C>A | CA355413597 | EIF2B5,EIF4G1 | c.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 | |
3 | g.184326970C= | CA1425957837 | EIF2B5,EIF4G1 | c.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= | |
3 | g.184326970C>G | CA355413600 | EIF2B5,EIF4G1 | c.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 | |
3 | g.184326970C>T | CA2732780 | EIF2B5,EIF4G1 | c.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 |
3 | g.184326971G>A | CA355413606 | EIF2B5,EIF4G1 | c.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 |
3 | g.184326971G>C | CA355413609 | EIF2B5,EIF4G1 | c.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 | |
3 | g.184326971G= | CA1425957842 | EIF2B5,EIF4G1 | c.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= | |
3 | g.184326971G>T | CA355413611 | EIF2B5,EIF4G1 | c.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 | |
3 | g.184326972T>A | CA437162160 | EIF2B5,EIF4G1 | c.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 | |
3 | g.184326972T>C | CA437162161 | EIF2B5,EIF4G1 | c.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 | |
3 | g.184326972T>G | CA2732781 | EIF2B5,EIF4G1 | c.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 |
3 | g.184326972T= | CA1425957846 | EIF2B5,EIF4G1 | c.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= | |
3 | g.184326973G>A | CA2732783 | EIF2B5,EIF4G1 | c.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 |
3 | g.184326973G>C | CA2732782 | EIF2B5,EIF4G1 | c.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 |
3 | g.184326973G= | CA1425957849 | EIF2B5,EIF4G1 | c.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= | |
3 | g.184326973G>T | CA355413621 | EIF2B5,EIF4G1 | c.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 | |
3 | g.184326974T>A | CA355413625 | EIF2B5,EIF4G1 | c.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 | |
3 | g.184326974T>C | CA355413628 | EIF2B5,EIF4G1 | c.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 | |
3 | g.184326974T>G | CA355413630 | EIF2B5,EIF4G1 | c.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 | |
3 | g.184326975G>A | CA437162163 | EIF2B5,EIF4G1 | c.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 | |
3 | g.184326975G>C | CA437162164 | EIF2B5,EIF4G1 | c.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 |
3 | g.184326975G>T | CA437162165 | EIF2B5,EIF4G1 | c.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 | |
3 | g.184326976del | CA2668839650 | EIF2B5,EIF4G1 | c.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 |
3 | g.184326976G>A | CA2732784 | EIF2B5,EIF4G1 | c.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 |
3 | g.184326976G>C | CA355413639 | EIF2B5,EIF4G1 | c.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 |
3 | g.184326976G= | CA1425957852 | EIF2B5,EIF4G1 | c.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= | |
3 | g.184326976G>T | CA355413635 | EIF2B5,EIF4G1 | c.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 |
3 | g.184326977T>A | CA355413643 | EIF2B5,EIF4G1 | c.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 |
3 | g.184326977T>C | CA2732785 | EIF2B5,EIF4G1 | c.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 |
3 | g.184326977T>G | CA355413647 | EIF2B5,EIF4G1 | c.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 | |
3 | g.184326977T= | CA1425957856 | EIF2B5,EIF4G1 | c.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= | |
3 | g.184326978G>A | CA437162169 | EIF2B5,EIF4G1 | c.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 |
3 | g.184326978G>C | CA437162171 | EIF2B5,EIF4G1 | c.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 | |
3 | g.184326978G= | CA1425957858 | EIF2B5,EIF4G1 | c.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= | |
3 | g.184326978G>T | CA437162170 | EIF2B5,EIF4G1 | c.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 | |
3 | g.184326978_184326979insGCCATTCACTACCTGTTTGGTTGCATATGGTGGTGCTGGCCAAGGGACT | CA917083373 | EIF2B5,EIF4G1 | c.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 |
3 | g.184326979C>A | CA355413648 | EIF2B5,EIF4G1 | c.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 | |
3 | g.184326979C>G | CA355413650 | EIF2B5,EIF4G1 | c.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 | |
3 | g.184326979C>T | CA355413649 | EIF2B5,EIF4G1 | c.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 | |
3 | g.184326980A= | CA1425957861 | EIF2B5,EIF4G1 | c.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= | |
3 | g.184326980A>C | CA355413653 | EIF2B5,EIF4G1 | c.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 | |
3 | g.184326980A>G | CA88867291 | EIF2B5,EIF4G1 | c.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 |
3 | g.184326980A>T | CA355413656 | EIF2B5,EIF4G1 | c.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 | |
3 | g.184326981G>A | CA437162173 | EIF2B5,EIF4G1 | c.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 | |
3 | g.184326981G>C | CA355413662 | EIF2B5,EIF4G1 | c.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 | |
3 | g.184326981G>T | CA355413668 | EIF2B5,EIF4G1 | c.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 | |
3 | g.184326982A= | CA1425957864 | EIF2B5,EIF4G1 | c.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= | |
3 | g.184326982A>C | CA2732786 | EIF2B5,EIF4G1 | c.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 |
3 | g.184326982A>G | CA355413670 | EIF2B5,EIF4G1 | c.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 | |
3 | g.184326982A>T | CA355413672 | EIF2B5,EIF4G1 | c.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 | |
3 | g.184326983G>A | CA355413673 | EIF2B5,EIF4G1 | c.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 | |
3 | g.184326983G>C | CA355413675 | EIF2B5,EIF4G1 | c.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 | |
3 | g.184326983G>T | CA355413678 | EIF2B5,EIF4G1 | c.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 |
3 | g.184326984G>A | CA355413681 | EIF2B5,EIF4G1 | c.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 | |
3 | g.184326984G>C | CA355413683 | EIF2B5,EIF4G1 | c.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 | |
3 | g.184326984G>T | CA355413687 | EIF2B5,EIF4G1 | c.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 | |
3 | g.184326984_184326985insAG | CA2704833517 | EIF2B5,EIF4G1 | c.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 |
3 | g.184326985T>A | CA355413700 | EIF2B5,EIF4G1 | c.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 | |
3 | g.184326985T>C | CA355413698 | EIF2B5,EIF4G1 | c.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 | |
3 | g.184326985T>G | CA355413692 | EIF2B5,EIF4G1 | c.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 | |
3 | g.184326985_184326986insAGCTTGAGCCGAGAACGAGGCGAGAAAGCTGGAGACC | CA2704833530 | EIF2B5,EIF4G1 | c.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 |
3 | g.184326988G>C | CA2732787 | EIF2B5,EIF4G1 | c.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 |
3 | g.184326988G= | CA1425957868 | EIF2B5,EIF4G1 | c.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= | |
3 | g.184326993C= | CA1425957871 | EIF2B5,EIF4G1 | c.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= | |
3 | g.184326993C>T | CA2732788 | EIF2B5,EIF4G1 | c.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 |
3 | g.184326994C>A | CA548796074 | EIF2B5,EIF4G1 | c.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 |
3 | g.184326994C= | CA1425957875 | EIF2B5,EIF4G1 | c.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= | |
3 | g.184326994C>G | CA2732789 | EIF2B5,EIF4G1 | c.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 |
3 | g.184326995T>C | CA2668839683 | EIF2B5,EIF4G1 | c.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 |
3 | g.184326999C= | CA1425957878 | EIF2B5,EIF4G1 | c.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= | |
3 | g.184326999C>T | CA903714298 | EIF2B5,EIF4G1 | c.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 |
3 | g.184327000A= | CA1425957879 | EIF2B5,EIF4G1 | c.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= | |
3 | g.184327000A>C | CA2732790 | EIF2B5,EIF4G1 | c.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 |
3 | g.184327000A>G | CA548796075 | EIF2B5,EIF4G1 | c.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 |
3 | g.184327004T>C | CA903714300 | EIF2B5,EIF4G1 | c.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 |
3 | g.184327004T= | CA1425957883 | EIF2B5,EIF4G1 | c.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= | |
3 | g.184327005T>C | CA2668839709 | EIF2B5,EIF4G1 | c.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 |
3 | g.184327006G>A | CA2668839713 | EIF2B5,EIF4G1 | c.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 |
3 | g.184327007T>C | CA2732791 | EIF2B5,EIF4G1 | c.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 |
3 | g.184327007T= | CA1425957885 | EIF2B5,EIF4G1 | c.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= | |
3 | g.184327009_184327011del | CA2577978151 | EIF2B5,EIF4G1 | c.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 |
3 | g.184327008T>C | CA2732792 | EIF2B5,EIF4G1 | c.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 |
3 | g.184327008T= | CA1425957887 | EIF2B5,EIF4G1 | c.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= | |
3 | g.184327009A>T | CA2668839728 | EIF2B5,EIF4G1 | c.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 |
3 | g.184327009_184327010insACA | CA2668839725 | EIF2B5,EIF4G1 | c.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 |
3 | g.184327010T>C | CA2668839767 | EIF2B5,EIF4G1 | c.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 |
3 | g.184327011T>A | CA2704833531 | EIF2B5,EIF4G1 | c.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 |
3 | g.184327013A>G | CA2668839768 | EIF2B5,EIF4G1 | c.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 |
3 | g.184327013A>T | CA2668839770 | EIF2B5,EIF4G1 | c.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 |
3 | g.184327014C>T | CA2668839774 | EIF2B5,EIF4G1 | c.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 |
3 | g.184327015A= | CA1425957891 | EIF2B5,EIF4G1 | c.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= | |
3 | g.184327015A>G | CA88867307 | EIF2B5,EIF4G1 | c.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 |
3 | g.184327016C= | CA1425957894 | EIF2B5,EIF4G1 | c.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= | |
3 | g.184327016C>G | CA2732793 | EIF2B5,EIF4G1 | c.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 |
3 | g.184327016C>T | CA2732794 | EIF2B5,EIF4G1 | c.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 |
3 | g.184327017T>C | CA2704833579 | EIF2B5,EIF4G1 | c.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 |
3 | g.184327018G>A | CA1425957899 | EIF2B5,EIF4G1 | c.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 |
3 | g.184327018G= | CA1425957897 | EIF2B5,EIF4G1 | c.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= | |
3 | g.184327018G>T | CA903714303 | EIF2B5,EIF4G1 | c.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 |
3 | g.184327022del | CA2577978152 | EIF2B5,EIF4G1 | c.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 | |
3 | g.184327019G>C | CA2732795 | EIF2B5,EIF4G1 | c.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 |
3 | g.184327019G= | CA1425957900 | EIF2B5,EIF4G1 | c.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= | |
3 | g.184327019G>T | CA1425957901 | EIF2B5,EIF4G1 | c.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 |
3 | g.184327020G>C | CA903714306 | EIF2B5,EIF4G1 | c.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 |
3 | g.184327020G= | CA1425957902 | EIF2B5,EIF4G1 | c.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= | |
3 | g.184327020G>T | CA548796076 | EIF2B5,EIF4G1 | c.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 |
3 | g.184327021G= | CA1425957907 | EIF2B5,EIF4G1 | c.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= | |
3 | g.184327021G>T | CA548796077 | EIF2B5,EIF4G1 | c.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 |
3 | g.184327022G>T | CA2668839813 | EIF2B5,EIF4G1 | c.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 |