Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.184327376C>A | CA437330595 | EIF2B5,EIF4G1 | c.3589C>A (p.Arg1197=) c.3523C>A (p.Arg1175=) c.2936C>A (n.2936C>A) c.2992C>A (p.Arg998=) c.3592C>A (p.Arg1198=) c.3097C>A (p.Arg1033=) c.3610C>A (p.Arg1204=) c.3328C>A (p.Arg1110=) c.3472C>A (p.Arg1158=) c.3469C>A (p.Arg1157=) c.3331C>A (p.Arg1111=) c.3004C>A (p.Arg1002=) c.3001C>A (p.Arg1001=) c.3100C>A (p.Arg1034=) c.*3028C>A (n.*3028C>A) c.2106+182669C>A (n.2106+182669C>A) n.91C>A | |
3 | g.184327376C= | CA1425958358 | EIF2B5,EIF4G1 | c.3589C= (p.Arg1197=) c.3523C= (p.Arg1175=) c.2936C= (n.2936C=) c.2992C= (p.Arg998=) c.3592C= (p.Arg1198=) c.3097C= (p.Arg1033=) c.3610C= (p.Arg1204=) c.3328C= (p.Arg1110=) c.3472C= (p.Arg1158=) c.3469C= (p.Arg1157=) c.3331C= (p.Arg1111=) c.3004C= (p.Arg1002=) c.3001C= (p.Arg1001=) c.3100C= (p.Arg1034=) c.*3028C= (n.*3028C=) c.2106+182669C= (n.2106+182669C=) n.91C= | |
3 | g.184327376C>G | CA355415141 | EIF2B5,EIF4G1 | c.3589C>G (p.Arg1197Gly) c.3523C>G (p.Arg1175Gly) c.2936C>G (n.2936C>G) c.2992C>G (p.Arg998Gly) c.3592C>G (p.Arg1198Gly) c.3097C>G (p.Arg1033Gly) c.3610C>G (p.Arg1204Gly) c.3328C>G (p.Arg1110Gly) c.3472C>G (p.Arg1158Gly) c.3469C>G (p.Arg1157Gly) c.3331C>G (p.Arg1111Gly) c.3004C>G (p.Arg1002Gly) c.3001C>G (p.Arg1001Gly) c.3100C>G (p.Arg1034Gly) c.*3028C>G (n.*3028C>G) c.2106+182669C>G (n.2106+182669C>G) n.91C>G | |
3 | g.184327376C>T | CA2732853 | EIF2B5,EIF4G1 | c.3589C>T (p.Arg1197Trp) c.3523C>T (p.Arg1175Trp) c.2936C>T (n.2936C>T) c.2992C>T (p.Arg998Trp) c.3592C>T (p.Arg1198Trp) c.3097C>T (p.Arg1033Trp) c.3610C>T (p.Arg1204Trp) c.3328C>T (p.Arg1110Trp) c.3472C>T (p.Arg1158Trp) c.3469C>T (p.Arg1157Trp) c.3331C>T (p.Arg1111Trp) c.3004C>T (p.Arg1002Trp) c.3001C>T (p.Arg1001Trp) c.3100C>T (p.Arg1034Trp) c.*3028C>T (n.*3028C>T) c.2106+182669C>T (n.2106+182669C>T) n.91C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.184327377G>A | CA355415148 | EIF2B5,EIF4G1 | c.3590G>A (p.Arg1197Gln) c.3524G>A (p.Arg1175Gln) c.2937G>A (n.2937G>A) c.2993G>A (p.Arg998Gln) c.3593G>A (p.Arg1198Gln) c.3098G>A (p.Arg1033Gln) c.3611G>A (p.Arg1204Gln) c.3329G>A (p.Arg1110Gln) c.3473G>A (p.Arg1158Gln) c.3470G>A (p.Arg1157Gln) c.3332G>A (p.Arg1111Gln) c.3005G>A (p.Arg1002Gln) c.3002G>A (p.Arg1001Gln) c.3101G>A (p.Arg1034Gln) c.*3029G>A (n.*3029G>A) c.2106+182670G>A (n.2106+182670G>A) n.92G>A | dbSNP gnomAD v4 |
3 | g.184327377G>C | CA355415151 | EIF2B5,EIF4G1 | c.3590G>C (p.Arg1197Pro) c.3524G>C (p.Arg1175Pro) c.2937G>C (n.2937G>C) c.2993G>C (p.Arg998Pro) c.3593G>C (p.Arg1198Pro) c.3098G>C (p.Arg1033Pro) c.3611G>C (p.Arg1204Pro) c.3329G>C (p.Arg1110Pro) c.3473G>C (p.Arg1158Pro) c.3470G>C (p.Arg1157Pro) c.3332G>C (p.Arg1111Pro) c.3005G>C (p.Arg1002Pro) c.3002G>C (p.Arg1001Pro) c.3101G>C (p.Arg1034Pro) c.*3029G>C (n.*3029G>C) c.2106+182670G>C (n.2106+182670G>C) n.92G>C | dbSNP gnomAD v2 |
3 | g.184327377G= | CA1425958360 | EIF2B5,EIF4G1 | c.3590G= (p.Arg1197=) c.3524G= (p.Arg1175=) c.2937G= (n.2937G=) c.2993G= (p.Arg998=) c.3593G= (p.Arg1198=) c.3098G= (p.Arg1033=) c.3611G= (p.Arg1204=) c.3329G= (p.Arg1110=) c.3473G= (p.Arg1158=) c.3470G= (p.Arg1157=) c.3332G= (p.Arg1111=) c.3005G= (p.Arg1002=) c.3002G= (p.Arg1001=) c.3101G= (p.Arg1034=) c.*3029G= (n.*3029G=) c.2106+182670G= (n.2106+182670G=) n.92G= | |
3 | g.184327377G>T | CA355415154 | EIF2B5,EIF4G1 | c.3590G>T (p.Arg1197Leu) c.3524G>T (p.Arg1175Leu) c.2937G>T (n.2937G>T) c.2993G>T (p.Arg998Leu) c.3593G>T (p.Arg1198Leu) c.3098G>T (p.Arg1033Leu) c.3611G>T (p.Arg1204Leu) c.3329G>T (p.Arg1110Leu) c.3473G>T (p.Arg1158Leu) c.3470G>T (p.Arg1157Leu) c.3332G>T (p.Arg1111Leu) c.3005G>T (p.Arg1002Leu) c.3002G>T (p.Arg1001Leu) c.3101G>T (p.Arg1034Leu) c.*3029G>T (n.*3029G>T) c.2106+182670G>T (n.2106+182670G>T) n.92G>T | dbSNP gnomAD v3 gnomAD v4 |
3 | g.184327378G>A | CA437330596 | EIF2B5,EIF4G1 | c.3591G>A (p.Arg1197=) c.3525G>A (p.Arg1175=) c.2938G>A (n.2938G>A) c.2994G>A (p.Arg998=) c.3594G>A (p.Arg1198=) c.3099G>A (p.Arg1033=) c.3612G>A (p.Arg1204=) c.3330G>A (p.Arg1110=) c.3474G>A (p.Arg1158=) c.3471G>A (p.Arg1157=) c.3333G>A (p.Arg1111=) c.3006G>A (p.Arg1002=) c.3003G>A (p.Arg1001=) c.3102G>A (p.Arg1034=) c.*3030G>A (n.*3030G>A) c.2106+182671G>A (n.2106+182671G>A) n.93G>A | dbSNP |
3 | g.184327378G>C | CA437330597 | EIF2B5,EIF4G1 | c.3591G>C (p.Arg1197=) c.3525G>C (p.Arg1175=) c.2938G>C (n.2938G>C) c.2994G>C (p.Arg998=) c.3594G>C (p.Arg1198=) c.3099G>C (p.Arg1033=) c.3612G>C (p.Arg1204=) c.3330G>C (p.Arg1110=) c.3474G>C (p.Arg1158=) c.3471G>C (p.Arg1157=) c.3333G>C (p.Arg1111=) c.3006G>C (p.Arg1002=) c.3003G>C (p.Arg1001=) c.3102G>C (p.Arg1034=) c.*3030G>C (n.*3030G>C) c.2106+182671G>C (n.2106+182671G>C) n.93G>C | |
3 | g.184327378G= | CA1425958361 | EIF2B5,EIF4G1 | c.3591G= (p.Arg1197=) c.3525G= (p.Arg1175=) c.2938G= (n.2938G=) c.2994G= (p.Arg998=) c.3594G= (p.Arg1198=) c.3099G= (p.Arg1033=) c.3612G= (p.Arg1204=) c.3330G= (p.Arg1110=) c.3474G= (p.Arg1158=) c.3471G= (p.Arg1157=) c.3333G= (p.Arg1111=) c.3006G= (p.Arg1002=) c.3003G= (p.Arg1001=) c.3102G= (p.Arg1034=) c.*3030G= (n.*3030G=) c.2106+182671G= (n.2106+182671G=) n.93G= | |
3 | g.184327378G>T | CA437330598 | EIF2B5,EIF4G1 | c.3591G>T (p.Arg1197=) c.3525G>T (p.Arg1175=) c.2938G>T (n.2938G>T) c.2994G>T (p.Arg998=) c.3594G>T (p.Arg1198=) c.3099G>T (p.Arg1033=) c.3612G>T (p.Arg1204=) c.3330G>T (p.Arg1110=) c.3474G>T (p.Arg1158=) c.3471G>T (p.Arg1157=) c.3333G>T (p.Arg1111=) c.3006G>T (p.Arg1002=) c.3003G>T (p.Arg1001=) c.3102G>T (p.Arg1034=) c.*3030G>T (n.*3030G>T) c.2106+182671G>T (n.2106+182671G>T) n.93G>T | gnomAD v4 |
3 | g.184327379C>A | CA355415167 | EIF2B5,EIF4G1 | c.3592C>A (p.Pro1198Thr) c.3526C>A (p.Pro1176Thr) c.2939C>A (n.2939C>A) c.2995C>A (p.Pro999Thr) c.3595C>A (p.Pro1199Thr) c.3100C>A (p.Pro1034Thr) c.3613C>A (p.Pro1205Thr) c.3331C>A (p.Pro1111Thr) c.3475C>A (p.Pro1159Thr) c.3472C>A (p.Pro1158Thr) c.3334C>A (p.Pro1112Thr) c.3007C>A (p.Pro1003Thr) c.3004C>A (p.Pro1002Thr) c.3103C>A (p.Pro1035Thr) c.*3031C>A (n.*3031C>A) c.2106+182672C>A (n.2106+182672C>A) n.94C>A | |
3 | g.184327379C= | CA1425958364 | EIF2B5,EIF4G1 | c.3592C= (p.Pro1198=) c.3526C= (p.Pro1176=) c.2939C= (n.2939C=) c.2995C= (p.Pro999=) c.3595C= (p.Pro1199=) c.3100C= (p.Pro1034=) c.3613C= (p.Pro1205=) c.3331C= (p.Pro1111=) c.3475C= (p.Pro1159=) c.3472C= (p.Pro1158=) c.3334C= (p.Pro1112=) c.3007C= (p.Pro1003=) c.3004C= (p.Pro1002=) c.3103C= (p.Pro1035=) c.*3031C= (n.*3031C=) c.2106+182672C= (n.2106+182672C=) n.94C= | |
3 | g.184327379C>G | CA355415170 | EIF2B5,EIF4G1 | c.3592C>G (p.Pro1198Ala) c.3526C>G (p.Pro1176Ala) c.2939C>G (n.2939C>G) c.2995C>G (p.Pro999Ala) c.3595C>G (p.Pro1199Ala) c.3100C>G (p.Pro1034Ala) c.3613C>G (p.Pro1205Ala) c.3331C>G (p.Pro1111Ala) c.3475C>G (p.Pro1159Ala) c.3472C>G (p.Pro1158Ala) c.3334C>G (p.Pro1112Ala) c.3007C>G (p.Pro1003Ala) c.3004C>G (p.Pro1002Ala) c.3103C>G (p.Pro1035Ala) c.*3031C>G (n.*3031C>G) c.2106+182672C>G (n.2106+182672C>G) n.94C>G | |
3 | g.184327379C>T | CA355415161 | EIF2B5,EIF4G1 | c.3592C>T (p.Pro1198Ser) c.3526C>T (p.Pro1176Ser) c.2939C>T (n.2939C>T) c.2995C>T (p.Pro999Ser) c.3595C>T (p.Pro1199Ser) c.3100C>T (p.Pro1034Ser) c.3613C>T (p.Pro1205Ser) c.3331C>T (p.Pro1111Ser) c.3475C>T (p.Pro1159Ser) c.3472C>T (p.Pro1158Ser) c.3334C>T (p.Pro1112Ser) c.3007C>T (p.Pro1003Ser) c.3004C>T (p.Pro1002Ser) c.3103C>T (p.Pro1035Ser) c.*3031C>T (n.*3031C>T) c.2106+182672C>T (n.2106+182672C>T) n.94C>T | dbSNP gnomAD v2 gnomAD v4 |
3 | g.184327380C>A | CA355415172 | EIF2B5,EIF4G1 | c.3593C>A (p.Pro1198His) c.3527C>A (p.Pro1176His) c.2940C>A (n.2940C>A) c.2996C>A (p.Pro999His) c.3596C>A (p.Pro1199His) c.3101C>A (p.Pro1034His) c.3614C>A (p.Pro1205His) c.3332C>A (p.Pro1111His) c.3476C>A (p.Pro1159His) c.3473C>A (p.Pro1158His) c.3335C>A (p.Pro1112His) c.3008C>A (p.Pro1003His) c.3005C>A (p.Pro1002His) c.3104C>A (p.Pro1035His) c.*3032C>A (n.*3032C>A) c.2106+182673C>A (n.2106+182673C>A) n.95C>A | |
3 | g.184327380C>G | CA355415174 | EIF2B5,EIF4G1 | c.3593C>G (p.Pro1198Arg) c.3527C>G (p.Pro1176Arg) c.2940C>G (n.2940C>G) c.2996C>G (p.Pro999Arg) c.3596C>G (p.Pro1199Arg) c.3101C>G (p.Pro1034Arg) c.3614C>G (p.Pro1205Arg) c.3332C>G (p.Pro1111Arg) c.3476C>G (p.Pro1159Arg) c.3473C>G (p.Pro1158Arg) c.3335C>G (p.Pro1112Arg) c.3008C>G (p.Pro1003Arg) c.3005C>G (p.Pro1002Arg) c.3104C>G (p.Pro1035Arg) c.*3032C>G (n.*3032C>G) c.2106+182673C>G (n.2106+182673C>G) n.95C>G | |
3 | g.184327380C>T | CA355415176 | EIF2B5,EIF4G1 | c.3593C>T (p.Pro1198Leu) c.3527C>T (p.Pro1176Leu) c.2940C>T (n.2940C>T) c.2996C>T (p.Pro999Leu) c.3596C>T (p.Pro1199Leu) c.3101C>T (p.Pro1034Leu) c.3614C>T (p.Pro1205Leu) c.3332C>T (p.Pro1111Leu) c.3476C>T (p.Pro1159Leu) c.3473C>T (p.Pro1158Leu) c.3335C>T (p.Pro1112Leu) c.3008C>T (p.Pro1003Leu) c.3005C>T (p.Pro1002Leu) c.3104C>T (p.Pro1035Leu) c.*3032C>T (n.*3032C>T) c.2106+182673C>T (n.2106+182673C>T) n.95C>T | dbSNP COSMIC |
3 | g.184327381C>A | CA437330599 | EIF2B5,EIF4G1 | c.3594C>A (p.Pro1198=) c.3528C>A (p.Pro1176=) c.2941C>A (n.2941C>A) c.2997C>A (p.Pro999=) c.3597C>A (p.Pro1199=) c.3102C>A (p.Pro1034=) c.3615C>A (p.Pro1205=) c.3333C>A (p.Pro1111=) c.3477C>A (p.Pro1159=) c.3474C>A (p.Pro1158=) c.3336C>A (p.Pro1112=) c.3009C>A (p.Pro1003=) c.3006C>A (p.Pro1002=) c.3105C>A (p.Pro1035=) c.*3033C>A (n.*3033C>A) c.2106+182674C>A (n.2106+182674C>A) n.96C>A | |
3 | g.184327381C>G | CA437330600 | EIF2B5,EIF4G1 | c.3594C>G (p.Pro1198=) c.3528C>G (p.Pro1176=) c.2941C>G (n.2941C>G) c.2997C>G (p.Pro999=) c.3597C>G (p.Pro1199=) c.3102C>G (p.Pro1034=) c.3615C>G (p.Pro1205=) c.3333C>G (p.Pro1111=) c.3477C>G (p.Pro1159=) c.3474C>G (p.Pro1158=) c.3336C>G (p.Pro1112=) c.3009C>G (p.Pro1003=) c.3006C>G (p.Pro1002=) c.3105C>G (p.Pro1035=) c.*3033C>G (n.*3033C>G) c.2106+182674C>G (n.2106+182674C>G) n.96C>G | |
3 | g.184327381C>T | CA437330602 | EIF2B5,EIF4G1 | c.3594C>T (p.Pro1198=) c.3528C>T (p.Pro1176=) c.2941C>T (n.2941C>T) c.2997C>T (p.Pro999=) c.3597C>T (p.Pro1199=) c.3102C>T (p.Pro1034=) c.3615C>T (p.Pro1205=) c.3333C>T (p.Pro1111=) c.3477C>T (p.Pro1159=) c.3474C>T (p.Pro1158=) c.3336C>T (p.Pro1112=) c.3009C>T (p.Pro1003=) c.3006C>T (p.Pro1002=) c.3105C>T (p.Pro1035=) c.*3033C>T (n.*3033C>T) c.2106+182674C>T (n.2106+182674C>T) n.96C>T | |
3 | g.184327382T>A | CA355415180 | EIF2B5,EIF4G1 | c.3595T>A (p.Ser1199Thr) c.3529T>A (p.Ser1177Thr) c.2942T>A (n.2942T>A) c.2998T>A (p.Ser1000Thr) c.3598T>A (p.Ser1200Thr) c.3103T>A (p.Ser1035Thr) c.3616T>A (p.Ser1206Thr) c.3334T>A (p.Ser1112Thr) c.3478T>A (p.Ser1160Thr) c.3475T>A (p.Ser1159Thr) c.3337T>A (p.Ser1113Thr) c.3010T>A (p.Ser1004Thr) c.3007T>A (p.Ser1003Thr) c.3106T>A (p.Ser1036Thr) c.*3034T>A (n.*3034T>A) c.2106+182675T>A (n.2106+182675T>A) n.97T>A | |
3 | g.184327382T>C | CA355415188 | EIF2B5,EIF4G1 | c.3595T>C (p.Ser1199Pro) c.3529T>C (p.Ser1177Pro) c.2942T>C (n.2942T>C) c.2998T>C (p.Ser1000Pro) c.3598T>C (p.Ser1200Pro) c.3103T>C (p.Ser1035Pro) c.3616T>C (p.Ser1206Pro) c.3334T>C (p.Ser1112Pro) c.3478T>C (p.Ser1160Pro) c.3475T>C (p.Ser1159Pro) c.3337T>C (p.Ser1113Pro) c.3010T>C (p.Ser1004Pro) c.3007T>C (p.Ser1003Pro) c.3106T>C (p.Ser1036Pro) c.*3034T>C (n.*3034T>C) c.2106+182675T>C (n.2106+182675T>C) n.97T>C | |
3 | g.184327382T>G | CA355415190 | EIF2B5,EIF4G1 | c.3595T>G (p.Ser1199Ala) c.3529T>G (p.Ser1177Ala) c.2942T>G (n.2942T>G) c.2998T>G (p.Ser1000Ala) c.3598T>G (p.Ser1200Ala) c.3103T>G (p.Ser1035Ala) c.3616T>G (p.Ser1206Ala) c.3334T>G (p.Ser1112Ala) c.3478T>G (p.Ser1160Ala) c.3475T>G (p.Ser1159Ala) c.3337T>G (p.Ser1113Ala) c.3010T>G (p.Ser1004Ala) c.3007T>G (p.Ser1003Ala) c.3106T>G (p.Ser1036Ala) c.*3034T>G (n.*3034T>G) c.2106+182675T>G (n.2106+182675T>G) n.97T>G | |
3 | g.184327383C>A | CA355415193 | EIF2B5,EIF4G1 | c.3596C>A (p.Ser1199Tyr) c.3530C>A (p.Ser1177Tyr) c.2943C>A (n.2943C>A) c.2999C>A (p.Ser1000Tyr) c.3599C>A (p.Ser1200Tyr) c.3104C>A (p.Ser1035Tyr) c.3617C>A (p.Ser1206Tyr) c.3335C>A (p.Ser1112Tyr) c.3479C>A (p.Ser1160Tyr) c.3476C>A (p.Ser1159Tyr) c.3338C>A (p.Ser1113Tyr) c.3011C>A (p.Ser1004Tyr) c.3008C>A (p.Ser1003Tyr) c.3107C>A (p.Ser1036Tyr) c.*3035C>A (n.*3035C>A) c.2106+182676C>A (n.2106+182676C>A) n.98C>A | |
3 | g.184327383C= | CA1425958365 | EIF2B5,EIF4G1 | c.3596C= (p.Ser1199=) c.3530C= (p.Ser1177=) c.2943C= (n.2943C=) c.2999C= (p.Ser1000=) c.3599C= (p.Ser1200=) c.3104C= (p.Ser1035=) c.3617C= (p.Ser1206=) c.3335C= (p.Ser1112=) c.3479C= (p.Ser1160=) c.3476C= (p.Ser1159=) c.3338C= (p.Ser1113=) c.3011C= (p.Ser1004=) c.3008C= (p.Ser1003=) c.3107C= (p.Ser1036=) c.*3035C= (n.*3035C=) c.2106+182676C= (n.2106+182676C=) n.98C= | |
3 | g.184327383C>G | CA355415194 | EIF2B5,EIF4G1 | c.3596C>G (p.Ser1199Cys) c.3530C>G (p.Ser1177Cys) c.2943C>G (n.2943C>G) c.2999C>G (p.Ser1000Cys) c.3599C>G (p.Ser1200Cys) c.3104C>G (p.Ser1035Cys) c.3617C>G (p.Ser1206Cys) c.3335C>G (p.Ser1112Cys) c.3479C>G (p.Ser1160Cys) c.3476C>G (p.Ser1159Cys) c.3338C>G (p.Ser1113Cys) c.3011C>G (p.Ser1004Cys) c.3008C>G (p.Ser1003Cys) c.3107C>G (p.Ser1036Cys) c.*3035C>G (n.*3035C>G) c.2106+182676C>G (n.2106+182676C>G) n.98C>G | dbSNP gnomAD v2 gnomAD v4 |
3 | g.184327383C>T | CA355415195 | EIF2B5,EIF4G1 | c.3596C>T (p.Ser1199Phe) c.3530C>T (p.Ser1177Phe) c.2943C>T (n.2943C>T) c.2999C>T (p.Ser1000Phe) c.3599C>T (p.Ser1200Phe) c.3104C>T (p.Ser1035Phe) c.3617C>T (p.Ser1206Phe) c.3335C>T (p.Ser1112Phe) c.3479C>T (p.Ser1160Phe) c.3476C>T (p.Ser1159Phe) c.3338C>T (p.Ser1113Phe) c.3011C>T (p.Ser1004Phe) c.3008C>T (p.Ser1003Phe) c.3107C>T (p.Ser1036Phe) c.*3035C>T (n.*3035C>T) c.2106+182676C>T (n.2106+182676C>T) n.98C>T | dbSNP gnomAD v4 |
3 | g.184327384C>A | CA437330603 | EIF2B5,EIF4G1 | c.3597C>A (p.Ser1199=) c.3531C>A (p.Ser1177=) c.2944C>A (n.2944C>A) c.3000C>A (p.Ser1000=) c.3600C>A (p.Ser1200=) c.3105C>A (p.Ser1035=) c.3618C>A (p.Ser1206=) c.3336C>A (p.Ser1112=) c.3480C>A (p.Ser1160=) c.3477C>A (p.Ser1159=) c.3339C>A (p.Ser1113=) c.3012C>A (p.Ser1004=) c.3009C>A (p.Ser1003=) c.3108C>A (p.Ser1036=) c.*3036C>A (n.*3036C>A) c.2106+182677C>A (n.2106+182677C>A) n.99C>A | |
3 | g.184327384C= | CA1425958368 | EIF2B5,EIF4G1 | c.3597C= (p.Ser1199=) c.3531C= (p.Ser1177=) c.2944C= (n.2944C=) c.3000C= (p.Ser1000=) c.3600C= (p.Ser1200=) c.3105C= (p.Ser1035=) c.3618C= (p.Ser1206=) c.3336C= (p.Ser1112=) c.3480C= (p.Ser1160=) c.3477C= (p.Ser1159=) c.3339C= (p.Ser1113=) c.3012C= (p.Ser1004=) c.3009C= (p.Ser1003=) c.3108C= (p.Ser1036=) c.*3036C= (n.*3036C=) c.2106+182677C= (n.2106+182677C=) n.99C= | |
3 | g.184327384C>G | CA88867643 | EIF2B5,EIF4G1 | c.3597C>G (p.Ser1199=) c.3531C>G (p.Ser1177=) c.2944C>G (n.2944C>G) c.3000C>G (p.Ser1000=) c.3600C>G (p.Ser1200=) c.3105C>G (p.Ser1035=) c.3618C>G (p.Ser1206=) c.3336C>G (p.Ser1112=) c.3480C>G (p.Ser1160=) c.3477C>G (p.Ser1159=) c.3339C>G (p.Ser1113=) c.3012C>G (p.Ser1004=) c.3009C>G (p.Ser1003=) c.3108C>G (p.Ser1036=) c.*3036C>G (n.*3036C>G) c.2106+182677C>G (n.2106+182677C>G) n.99C>G | dbSNP |
3 | g.184327384C>T | CA437330604 | EIF2B5,EIF4G1 | c.3597C>T (p.Ser1199=) c.3531C>T (p.Ser1177=) c.2944C>T (n.2944C>T) c.3000C>T (p.Ser1000=) c.3600C>T (p.Ser1200=) c.3105C>T (p.Ser1035=) c.3618C>T (p.Ser1206=) c.3336C>T (p.Ser1112=) c.3480C>T (p.Ser1160=) c.3477C>T (p.Ser1159=) c.3339C>T (p.Ser1113=) c.3012C>T (p.Ser1004=) c.3009C>T (p.Ser1003=) c.3108C>T (p.Ser1036=) c.*3036C>T (n.*3036C>T) c.2106+182677C>T (n.2106+182677C>T) n.99C>T | |
3 | g.184327385C>A | CA355415200 | EIF2B5,EIF4G1 | c.3598C>A (p.Gln1200Lys) c.3532C>A (p.Gln1178Lys) c.2945C>A (n.2945C>A) c.3001C>A (p.Gln1001Lys) c.3601C>A (p.Gln1201Lys) c.3106C>A (p.Gln1036Lys) c.3619C>A (p.Gln1207Lys) c.3337C>A (p.Gln1113Lys) c.3481C>A (p.Gln1161Lys) c.3478C>A (p.Gln1160Lys) c.3340C>A (p.Gln1114Lys) c.3013C>A (p.Gln1005Lys) c.3010C>A (p.Gln1004Lys) c.3109C>A (p.Gln1037Lys) c.*3037C>A (n.*3037C>A) c.2106+182678C>A (n.2106+182678C>A) n.100C>A | |
3 | g.184327385C>G | CA355415202 | EIF2B5,EIF4G1 | c.3598C>G (p.Gln1200Glu) c.3532C>G (p.Gln1178Glu) c.2945C>G (n.2945C>G) c.3001C>G (p.Gln1001Glu) c.3601C>G (p.Gln1201Glu) c.3106C>G (p.Gln1036Glu) c.3619C>G (p.Gln1207Glu) c.3337C>G (p.Gln1113Glu) c.3481C>G (p.Gln1161Glu) c.3478C>G (p.Gln1160Glu) c.3340C>G (p.Gln1114Glu) c.3013C>G (p.Gln1005Glu) c.3010C>G (p.Gln1004Glu) c.3109C>G (p.Gln1037Glu) c.*3037C>G (n.*3037C>G) c.2106+182678C>G (n.2106+182678C>G) n.100C>G | |
3 | g.184327385C>T | CA355415204 | EIF2B5,EIF4G1 | c.3598C>T (p.Gln1200Ter) c.3532C>T (p.Gln1178Ter) c.2945C>T (n.2945C>T) c.3001C>T (p.Gln1001Ter) c.3601C>T (p.Gln1201Ter) c.3106C>T (p.Gln1036Ter) c.3619C>T (p.Gln1207Ter) c.3337C>T (p.Gln1113Ter) c.3481C>T (p.Gln1161Ter) c.3478C>T (p.Gln1160Ter) c.3340C>T (p.Gln1114Ter) c.3013C>T (p.Gln1005Ter) c.3010C>T (p.Gln1004Ter) c.3109C>T (p.Gln1037Ter) c.*3037C>T (n.*3037C>T) c.2106+182678C>T (n.2106+182678C>T) n.100C>T | |
3 | g.184327386A>C | CA355415210 | EIF2B5,EIF4G1 | c.3599A>C (p.Gln1200Pro) c.3533A>C (p.Gln1178Pro) c.2946A>C (n.2946A>C) c.3002A>C (p.Gln1001Pro) c.3602A>C (p.Gln1201Pro) c.3107A>C (p.Gln1036Pro) c.3620A>C (p.Gln1207Pro) c.3338A>C (p.Gln1113Pro) c.3482A>C (p.Gln1161Pro) c.3479A>C (p.Gln1160Pro) c.3341A>C (p.Gln1114Pro) c.3014A>C (p.Gln1005Pro) c.3011A>C (p.Gln1004Pro) c.3110A>C (p.Gln1037Pro) c.*3038A>C (n.*3038A>C) c.2106+182679A>C (n.2106+182679A>C) n.101A>C | |
3 | g.184327386A>G | CA355415212 | EIF2B5,EIF4G1 | c.3599A>G (p.Gln1200Arg) c.3533A>G (p.Gln1178Arg) c.2946A>G (n.2946A>G) c.3002A>G (p.Gln1001Arg) c.3602A>G (p.Gln1201Arg) c.3107A>G (p.Gln1036Arg) c.3620A>G (p.Gln1207Arg) c.3338A>G (p.Gln1113Arg) c.3482A>G (p.Gln1161Arg) c.3479A>G (p.Gln1160Arg) c.3341A>G (p.Gln1114Arg) c.3014A>G (p.Gln1005Arg) c.3011A>G (p.Gln1004Arg) c.3110A>G (p.Gln1037Arg) c.*3038A>G (n.*3038A>G) c.2106+182679A>G (n.2106+182679A>G) n.101A>G | |
3 | g.184327386A>T | CA355415208 | EIF2B5,EIF4G1 | c.3599A>T (p.Gln1200Leu) c.3533A>T (p.Gln1178Leu) c.2946A>T (n.2946A>T) c.3002A>T (p.Gln1001Leu) c.3602A>T (p.Gln1201Leu) c.3107A>T (p.Gln1036Leu) c.3620A>T (p.Gln1207Leu) c.3338A>T (p.Gln1113Leu) c.3482A>T (p.Gln1161Leu) c.3479A>T (p.Gln1160Leu) c.3341A>T (p.Gln1114Leu) c.3014A>T (p.Gln1005Leu) c.3011A>T (p.Gln1004Leu) c.3110A>T (p.Gln1037Leu) c.*3038A>T (n.*3038A>T) c.2106+182679A>T (n.2106+182679A>T) n.101A>T | |
3 | g.184327387G>A | CA437330607 | EIF2B5,EIF4G1 | c.3600G>A (p.Gln1200=) c.3534G>A (p.Gln1178=) c.2947G>A (n.2947G>A) c.3003G>A (p.Gln1001=) c.3603G>A (p.Gln1201=) c.3108G>A (p.Gln1036=) c.3621G>A (p.Gln1207=) c.3339G>A (p.Gln1113=) c.3483G>A (p.Gln1161=) c.3480G>A (p.Gln1160=) c.3342G>A (p.Gln1114=) c.3015G>A (p.Gln1005=) c.3012G>A (p.Gln1004=) c.3111G>A (p.Gln1037=) c.*3039G>A (n.*3039G>A) c.2106+182680G>A (n.2106+182680G>A) n.102G>A | |
3 | g.184327387G>C | CA355415214 | EIF2B5,EIF4G1 | c.3600G>C (p.Gln1200His) c.3534G>C (p.Gln1178His) c.2947G>C (n.2947G>C) c.3003G>C (p.Gln1001His) c.3603G>C (p.Gln1201His) c.3108G>C (p.Gln1036His) c.3621G>C (p.Gln1207His) c.3339G>C (p.Gln1113His) c.3483G>C (p.Gln1161His) c.3480G>C (p.Gln1160His) c.3342G>C (p.Gln1114His) c.3015G>C (p.Gln1005His) c.3012G>C (p.Gln1004His) c.3111G>C (p.Gln1037His) c.*3039G>C (n.*3039G>C) c.2106+182680G>C (n.2106+182680G>C) n.102G>C | dbSNP |
3 | g.184327387G= | CA1425958370 | EIF2B5,EIF4G1 | c.3600G= (p.Gln1200=) c.3534G= (p.Gln1178=) c.2947G= (n.2947G=) c.3003G= (p.Gln1001=) c.3603G= (p.Gln1201=) c.3108G= (p.Gln1036=) c.3621G= (p.Gln1207=) c.3339G= (p.Gln1113=) c.3483G= (p.Gln1161=) c.3480G= (p.Gln1160=) c.3342G= (p.Gln1114=) c.3015G= (p.Gln1005=) c.3012G= (p.Gln1004=) c.3111G= (p.Gln1037=) c.*3039G= (n.*3039G=) c.2106+182680G= (n.2106+182680G=) n.102G= | |
3 | g.184327387G>T | CA355415216 | EIF2B5,EIF4G1 | c.3600G>T (p.Gln1200His) c.3534G>T (p.Gln1178His) c.2947G>T (n.2947G>T) c.3003G>T (p.Gln1001His) c.3603G>T (p.Gln1201His) c.3108G>T (p.Gln1036His) c.3621G>T (p.Gln1207His) c.3339G>T (p.Gln1113His) c.3483G>T (p.Gln1161His) c.3480G>T (p.Gln1160His) c.3342G>T (p.Gln1114His) c.3015G>T (p.Gln1005His) c.3012G>T (p.Gln1004His) c.3111G>T (p.Gln1037His) c.*3039G>T (n.*3039G>T) c.2106+182680G>T (n.2106+182680G>T) n.102G>T | |
3 | g.184327388C>A | CA355415220 | EIF2B5,EIF4G1 | c.3601C>A (p.Pro1201Thr) c.3535C>A (p.Pro1179Thr) c.2948C>A (n.2948C>A) c.3004C>A (p.Pro1002Thr) c.3604C>A (p.Pro1202Thr) c.3109C>A (p.Pro1037Thr) c.3622C>A (p.Pro1208Thr) c.3340C>A (p.Pro1114Thr) c.3484C>A (p.Pro1162Thr) c.3481C>A (p.Pro1161Thr) c.3343C>A (p.Pro1115Thr) c.3016C>A (p.Pro1006Thr) c.3013C>A (p.Pro1005Thr) c.3112C>A (p.Pro1038Thr) c.*3040C>A (n.*3040C>A) c.2106+182681C>A (n.2106+182681C>A) n.103C>A | |
3 | g.184327388C= | CA1425958372 | EIF2B5,EIF4G1 | c.3601C= (p.Pro1201=) c.3535C= (p.Pro1179=) c.2948C= (n.2948C=) c.3004C= (p.Pro1002=) c.3604C= (p.Pro1202=) c.3109C= (p.Pro1037=) c.3622C= (p.Pro1208=) c.3340C= (p.Pro1114=) c.3484C= (p.Pro1162=) c.3481C= (p.Pro1161=) c.3343C= (p.Pro1115=) c.3016C= (p.Pro1006=) c.3013C= (p.Pro1005=) c.3112C= (p.Pro1038=) c.*3040C= (n.*3040C=) c.2106+182681C= (n.2106+182681C=) n.103C= | |
3 | g.184327388C>G | CA355415221 | EIF2B5,EIF4G1 | c.3601C>G (p.Pro1201Ala) c.3535C>G (p.Pro1179Ala) c.2948C>G (n.2948C>G) c.3004C>G (p.Pro1002Ala) c.3604C>G (p.Pro1202Ala) c.3109C>G (p.Pro1037Ala) c.3622C>G (p.Pro1208Ala) c.3340C>G (p.Pro1114Ala) c.3484C>G (p.Pro1162Ala) c.3481C>G (p.Pro1161Ala) c.3343C>G (p.Pro1115Ala) c.3016C>G (p.Pro1006Ala) c.3013C>G (p.Pro1005Ala) c.3112C>G (p.Pro1038Ala) c.*3040C>G (n.*3040C>G) c.2106+182681C>G (n.2106+182681C>G) n.103C>G | |
3 | g.184327388C>T | CA355415223 | EIF2B5,EIF4G1 | c.3601C>T (p.Pro1201Ser) c.3535C>T (p.Pro1179Ser) c.2948C>T (n.2948C>T) c.3004C>T (p.Pro1002Ser) c.3604C>T (p.Pro1202Ser) c.3109C>T (p.Pro1037Ser) c.3622C>T (p.Pro1208Ser) c.3340C>T (p.Pro1114Ser) c.3484C>T (p.Pro1162Ser) c.3481C>T (p.Pro1161Ser) c.3343C>T (p.Pro1115Ser) c.3016C>T (p.Pro1006Ser) c.3013C>T (p.Pro1005Ser) c.3112C>T (p.Pro1038Ser) c.*3040C>T (n.*3040C>T) c.2106+182681C>T (n.2106+182681C>T) n.103C>T | dbSNP gnomAD v3 gnomAD v4 |
3 | g.184327389C>A | CA355415230 | EIF2B5,EIF4G1 | c.3602C>A (p.Pro1201His) c.3536C>A (p.Pro1179His) c.2949C>A (n.2949C>A) c.3005C>A (p.Pro1002His) c.3605C>A (p.Pro1202His) c.3110C>A (p.Pro1037His) c.3623C>A (p.Pro1208His) c.3341C>A (p.Pro1114His) c.3485C>A (p.Pro1162His) c.3482C>A (p.Pro1161His) c.3344C>A (p.Pro1115His) c.3017C>A (p.Pro1006His) c.3014C>A (p.Pro1005His) c.3113C>A (p.Pro1038His) c.*3041C>A (n.*3041C>A) c.2106+182682C>A (n.2106+182682C>A) n.104C>A | |
3 | g.184327389C>G | CA355415226 | EIF2B5,EIF4G1 | c.3602C>G (p.Pro1201Arg) c.3536C>G (p.Pro1179Arg) c.2949C>G (n.2949C>G) c.3005C>G (p.Pro1002Arg) c.3605C>G (p.Pro1202Arg) c.3110C>G (p.Pro1037Arg) c.3623C>G (p.Pro1208Arg) c.3341C>G (p.Pro1114Arg) c.3485C>G (p.Pro1162Arg) c.3482C>G (p.Pro1161Arg) c.3344C>G (p.Pro1115Arg) c.3017C>G (p.Pro1006Arg) c.3014C>G (p.Pro1005Arg) c.3113C>G (p.Pro1038Arg) c.*3041C>G (n.*3041C>G) c.2106+182682C>G (n.2106+182682C>G) n.104C>G | ClinVar |
3 | g.184327389C>T | CA355415229 | EIF2B5,EIF4G1 | c.3602C>T (p.Pro1201Leu) c.3536C>T (p.Pro1179Leu) c.2949C>T (n.2949C>T) c.3005C>T (p.Pro1002Leu) c.3605C>T (p.Pro1202Leu) c.3110C>T (p.Pro1037Leu) c.3623C>T (p.Pro1208Leu) c.3341C>T (p.Pro1114Leu) c.3485C>T (p.Pro1162Leu) c.3482C>T (p.Pro1161Leu) c.3344C>T (p.Pro1115Leu) c.3017C>T (p.Pro1006Leu) c.3014C>T (p.Pro1005Leu) c.3113C>T (p.Pro1038Leu) c.*3041C>T (n.*3041C>T) c.2106+182682C>T (n.2106+182682C>T) n.104C>T | |
3 | g.184327390T>A | CA437330609 | EIF2B5,EIF4G1 | c.3603T>A (p.Pro1201=) c.3537T>A (p.Pro1179=) c.2950T>A (n.2950T>A) c.3006T>A (p.Pro1002=) c.3606T>A (p.Pro1202=) c.3111T>A (p.Pro1037=) c.3624T>A (p.Pro1208=) c.3342T>A (p.Pro1114=) c.3486T>A (p.Pro1162=) c.3483T>A (p.Pro1161=) c.3345T>A (p.Pro1115=) c.3018T>A (p.Pro1006=) c.3015T>A (p.Pro1005=) c.3114T>A (p.Pro1038=) c.*3042T>A (n.*3042T>A) c.2106+182683T>A (n.2106+182683T>A) n.105T>A | |
3 | g.184327390T>C | CA437330610 | EIF2B5,EIF4G1 | c.3603T>C (p.Pro1201=) c.3537T>C (p.Pro1179=) c.2950T>C (n.2950T>C) c.3006T>C (p.Pro1002=) c.3606T>C (p.Pro1202=) c.3111T>C (p.Pro1037=) c.3624T>C (p.Pro1208=) c.3342T>C (p.Pro1114=) c.3486T>C (p.Pro1162=) c.3483T>C (p.Pro1161=) c.3345T>C (p.Pro1115=) c.3018T>C (p.Pro1006=) c.3015T>C (p.Pro1005=) c.3114T>C (p.Pro1038=) c.*3042T>C (n.*3042T>C) c.2106+182683T>C (n.2106+182683T>C) n.105T>C | dbSNP gnomAD v2 gnomAD v4 |
3 | g.184327390T>G | CA437330611 | EIF2B5,EIF4G1 | c.3603T>G (p.Pro1201=) c.3537T>G (p.Pro1179=) c.2950T>G (n.2950T>G) c.3006T>G (p.Pro1002=) c.3606T>G (p.Pro1202=) c.3111T>G (p.Pro1037=) c.3624T>G (p.Pro1208=) c.3342T>G (p.Pro1114=) c.3486T>G (p.Pro1162=) c.3483T>G (p.Pro1161=) c.3345T>G (p.Pro1115=) c.3018T>G (p.Pro1006=) c.3015T>G (p.Pro1005=) c.3114T>G (p.Pro1038=) c.*3042T>G (n.*3042T>G) c.2106+182683T>G (n.2106+182683T>G) n.105T>G | gnomAD v4 |
3 | g.184327390T= | CA1425958375 | EIF2B5,EIF4G1 | c.3603T= (p.Pro1201=) c.3537T= (p.Pro1179=) c.2950T= (n.2950T=) c.3006T= (p.Pro1002=) c.3606T= (p.Pro1202=) c.3111T= (p.Pro1037=) c.3624T= (p.Pro1208=) c.3342T= (p.Pro1114=) c.3486T= (p.Pro1162=) c.3483T= (p.Pro1161=) c.3345T= (p.Pro1115=) c.3018T= (p.Pro1006=) c.3015T= (p.Pro1005=) c.3114T= (p.Pro1038=) c.*3042T= (n.*3042T=) c.2106+182683T= (n.2106+182683T=) n.105T= | |
3 | g.184327391G>A | CA355415231 | EIF2B5,EIF4G1 | c.3604G>A (p.Glu1202Lys) c.3538G>A (p.Glu1180Lys) c.2951G>A (n.2951G>A) c.3007G>A (p.Glu1003Lys) c.3607G>A (p.Glu1203Lys) c.3112G>A (p.Glu1038Lys) c.3625G>A (p.Glu1209Lys) c.3343G>A (p.Glu1115Lys) c.3487G>A (p.Glu1163Lys) c.3484G>A (p.Glu1162Lys) c.3346G>A (p.Glu1116Lys) c.3019G>A (p.Glu1007Lys) c.3016G>A (p.Glu1006Lys) c.3115G>A (p.Glu1039Lys) c.*3043G>A (n.*3043G>A) c.2106+182684G>A (n.2106+182684G>A) n.106G>A | |
3 | g.184327391G>C | CA355415233 | EIF2B5,EIF4G1 | c.3604G>C (p.Glu1202Gln) c.3538G>C (p.Glu1180Gln) c.2951G>C (n.2951G>C) c.3007G>C (p.Glu1003Gln) c.3607G>C (p.Glu1203Gln) c.3112G>C (p.Glu1038Gln) c.3625G>C (p.Glu1209Gln) c.3343G>C (p.Glu1115Gln) c.3487G>C (p.Glu1163Gln) c.3484G>C (p.Glu1162Gln) c.3346G>C (p.Glu1116Gln) c.3019G>C (p.Glu1007Gln) c.3016G>C (p.Glu1006Gln) c.3115G>C (p.Glu1039Gln) c.*3043G>C (n.*3043G>C) c.2106+182684G>C (n.2106+182684G>C) n.106G>C | dbSNP gnomAD v2 |
3 | g.184327391G= | CA1425958380 | EIF2B5,EIF4G1 | c.3604G= (p.Glu1202=) c.3538G= (p.Glu1180=) c.2951G= (n.2951G=) c.3007G= (p.Glu1003=) c.3607G= (p.Glu1203=) c.3112G= (p.Glu1038=) c.3625G= (p.Glu1209=) c.3343G= (p.Glu1115=) c.3487G= (p.Glu1163=) c.3484G= (p.Glu1162=) c.3346G= (p.Glu1116=) c.3019G= (p.Glu1007=) c.3016G= (p.Glu1006=) c.3115G= (p.Glu1039=) c.*3043G= (n.*3043G=) c.2106+182684G= (n.2106+182684G=) n.106G= | |
3 | g.184327391G>T | CA355415234 | EIF2B5,EIF4G1 | c.3604G>T (p.Glu1202Ter) c.3538G>T (p.Glu1180Ter) c.2951G>T (n.2951G>T) c.3007G>T (p.Glu1003Ter) c.3607G>T (p.Glu1203Ter) c.3112G>T (p.Glu1038Ter) c.3625G>T (p.Glu1209Ter) c.3343G>T (p.Glu1115Ter) c.3487G>T (p.Glu1163Ter) c.3484G>T (p.Glu1162Ter) c.3346G>T (p.Glu1116Ter) c.3019G>T (p.Glu1007Ter) c.3016G>T (p.Glu1006Ter) c.3115G>T (p.Glu1039Ter) c.*3043G>T (n.*3043G>T) c.2106+182684G>T (n.2106+182684G>T) n.106G>T | |
3 | g.184327392A>C | CA355415236 | EIF2B5,EIF4G1 | c.3605A>C (p.Glu1202Ala) c.3539A>C (p.Glu1180Ala) c.2952A>C (n.2952A>C) c.3008A>C (p.Glu1003Ala) c.3608A>C (p.Glu1203Ala) c.3113A>C (p.Glu1038Ala) c.3626A>C (p.Glu1209Ala) c.3344A>C (p.Glu1115Ala) c.3488A>C (p.Glu1163Ala) c.3485A>C (p.Glu1162Ala) c.3347A>C (p.Glu1116Ala) c.3020A>C (p.Glu1007Ala) c.3017A>C (p.Glu1006Ala) c.3116A>C (p.Glu1039Ala) c.*3044A>C (n.*3044A>C) c.2106+182685A>C (n.2106+182685A>C) n.107A>C | |
3 | g.184327392A>G | CA355415238 | EIF2B5,EIF4G1 | c.3605A>G (p.Glu1202Gly) c.3539A>G (p.Glu1180Gly) c.2952A>G (n.2952A>G) c.3008A>G (p.Glu1003Gly) c.3608A>G (p.Glu1203Gly) c.3113A>G (p.Glu1038Gly) c.3626A>G (p.Glu1209Gly) c.3344A>G (p.Glu1115Gly) c.3488A>G (p.Glu1163Gly) c.3485A>G (p.Glu1162Gly) c.3347A>G (p.Glu1116Gly) c.3020A>G (p.Glu1007Gly) c.3017A>G (p.Glu1006Gly) c.3116A>G (p.Glu1039Gly) c.*3044A>G (n.*3044A>G) c.2106+182685A>G (n.2106+182685A>G) n.107A>G | |
3 | g.184327392A>T | CA355415241 | EIF2B5,EIF4G1 | c.3605A>T (p.Glu1202Val) c.3539A>T (p.Glu1180Val) c.2952A>T (n.2952A>T) c.3008A>T (p.Glu1003Val) c.3608A>T (p.Glu1203Val) c.3113A>T (p.Glu1038Val) c.3626A>T (p.Glu1209Val) c.3344A>T (p.Glu1115Val) c.3488A>T (p.Glu1163Val) c.3485A>T (p.Glu1162Val) c.3347A>T (p.Glu1116Val) c.3020A>T (p.Glu1007Val) c.3017A>T (p.Glu1006Val) c.3116A>T (p.Glu1039Val) c.*3044A>T (n.*3044A>T) c.2106+182685A>T (n.2106+182685A>T) n.107A>T | |
3 | g.184327393G>A | CA437330613 | EIF2B5,EIF4G1 | c.3606G>A (p.Glu1202=) c.3540G>A (p.Glu1180=) c.2953G>A (n.2953G>A) c.3009G>A (p.Glu1003=) c.3609G>A (p.Glu1203=) c.3114G>A (p.Glu1038=) c.3627G>A (p.Glu1209=) c.3345G>A (p.Glu1115=) c.3489G>A (p.Glu1163=) c.3486G>A (p.Glu1162=) c.3348G>A (p.Glu1116=) c.3021G>A (p.Glu1007=) c.3018G>A (p.Glu1006=) c.3117G>A (p.Glu1039=) c.*3045G>A (n.*3045G>A) c.2106+182686G>A (n.2106+182686G>A) n.108G>A | |
3 | g.184327393G>C | CA355415244 | EIF2B5,EIF4G1 | c.3606G>C (p.Glu1202Asp) c.3540G>C (p.Glu1180Asp) c.2953G>C (n.2953G>C) c.3009G>C (p.Glu1003Asp) c.3609G>C (p.Glu1203Asp) c.3114G>C (p.Glu1038Asp) c.3627G>C (p.Glu1209Asp) c.3345G>C (p.Glu1115Asp) c.3489G>C (p.Glu1163Asp) c.3486G>C (p.Glu1162Asp) c.3348G>C (p.Glu1116Asp) c.3021G>C (p.Glu1007Asp) c.3018G>C (p.Glu1006Asp) c.3117G>C (p.Glu1039Asp) c.*3045G>C (n.*3045G>C) c.2106+182686G>C (n.2106+182686G>C) n.108G>C | |
3 | g.184327393G>T | CA355415246 | EIF2B5,EIF4G1 | c.3606G>T (p.Glu1202Asp) c.3540G>T (p.Glu1180Asp) c.2953G>T (n.2953G>T) c.3009G>T (p.Glu1003Asp) c.3609G>T (p.Glu1203Asp) c.3114G>T (p.Glu1038Asp) c.3627G>T (p.Glu1209Asp) c.3345G>T (p.Glu1115Asp) c.3489G>T (p.Glu1163Asp) c.3486G>T (p.Glu1162Asp) c.3348G>T (p.Glu1116Asp) c.3021G>T (p.Glu1007Asp) c.3018G>T (p.Glu1006Asp) c.3117G>T (p.Glu1039Asp) c.*3045G>T (n.*3045G>T) c.2106+182686G>T (n.2106+182686G>T) n.108G>T | |
3 | g.184327394G>A | CA2732854 | EIF2B5,EIF4G1 | c.3607G>A (p.Gly1203Arg) c.3541G>A (p.Gly1181Arg) c.2954G>A (n.2954G>A) c.3010G>A (p.Gly1004Arg) c.3610G>A (p.Gly1204Arg) c.3115G>A (p.Gly1039Arg) c.3628G>A (p.Gly1210Arg) c.3346G>A (p.Gly1116Arg) c.3490G>A (p.Gly1164Arg) c.3487G>A (p.Gly1163Arg) c.3349G>A (p.Gly1117Arg) c.3022G>A (p.Gly1008Arg) c.3019G>A (p.Gly1007Arg) c.3118G>A (p.Gly1040Arg) c.*3046G>A (n.*3046G>A) c.2106+182687G>A (n.2106+182687G>A) n.109G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.184327394G>C | CA355415255 | EIF2B5,EIF4G1 | c.3607G>C (p.Gly1203Arg) c.3541G>C (p.Gly1181Arg) c.2954G>C (n.2954G>C) c.3010G>C (p.Gly1004Arg) c.3610G>C (p.Gly1204Arg) c.3115G>C (p.Gly1039Arg) c.3628G>C (p.Gly1210Arg) c.3346G>C (p.Gly1116Arg) c.3490G>C (p.Gly1164Arg) c.3487G>C (p.Gly1163Arg) c.3349G>C (p.Gly1117Arg) c.3022G>C (p.Gly1008Arg) c.3019G>C (p.Gly1007Arg) c.3118G>C (p.Gly1040Arg) c.*3046G>C (n.*3046G>C) c.2106+182687G>C (n.2106+182687G>C) n.109G>C | |
3 | g.184327394G= | CA1425958384 | EIF2B5,EIF4G1 | c.3607G= (p.Gly1203=) c.3541G= (p.Gly1181=) c.2954G= (n.2954G=) c.3010G= (p.Gly1004=) c.3610G= (p.Gly1204=) c.3115G= (p.Gly1039=) c.3628G= (p.Gly1210=) c.3346G= (p.Gly1116=) c.3490G= (p.Gly1164=) c.3487G= (p.Gly1163=) c.3349G= (p.Gly1117=) c.3022G= (p.Gly1008=) c.3019G= (p.Gly1007=) c.3118G= (p.Gly1040=) c.*3046G= (n.*3046G=) c.2106+182687G= (n.2106+182687G=) n.109G= | |
3 | g.184327394G>T | CA355415253 | EIF2B5,EIF4G1 | c.3607G>T (p.Gly1203Trp) c.3541G>T (p.Gly1181Trp) c.2954G>T (n.2954G>T) c.3010G>T (p.Gly1004Trp) c.3610G>T (p.Gly1204Trp) c.3115G>T (p.Gly1039Trp) c.3628G>T (p.Gly1210Trp) c.3346G>T (p.Gly1116Trp) c.3490G>T (p.Gly1164Trp) c.3487G>T (p.Gly1163Trp) c.3349G>T (p.Gly1117Trp) c.3022G>T (p.Gly1008Trp) c.3019G>T (p.Gly1007Trp) c.3118G>T (p.Gly1040Trp) c.*3046G>T (n.*3046G>T) c.2106+182687G>T (n.2106+182687G>T) n.109G>T | |
3 | g.184327395G>A | CA355415257 | EIF2B5,EIF4G1 | c.3608G>A (p.Gly1203Glu) c.3542G>A (p.Gly1181Glu) c.2955G>A (n.2955G>A) c.3011G>A (p.Gly1004Glu) c.3611G>A (p.Gly1204Glu) c.3116G>A (p.Gly1039Glu) c.3629G>A (p.Gly1210Glu) c.3347G>A (p.Gly1116Glu) c.3491G>A (p.Gly1164Glu) c.3488G>A (p.Gly1163Glu) c.3350G>A (p.Gly1117Glu) c.3023G>A (p.Gly1008Glu) c.3020G>A (p.Gly1007Glu) c.3119G>A (p.Gly1040Glu) c.*3047G>A (n.*3047G>A) c.2106+182688G>A (n.2106+182688G>A) n.110G>A | gnomAD v4 |
3 | g.184327395G>C | CA355415261 | EIF2B5,EIF4G1 | c.3608G>C (p.Gly1203Ala) c.3542G>C (p.Gly1181Ala) c.2955G>C (n.2955G>C) c.3011G>C (p.Gly1004Ala) c.3611G>C (p.Gly1204Ala) c.3116G>C (p.Gly1039Ala) c.3629G>C (p.Gly1210Ala) c.3347G>C (p.Gly1116Ala) c.3491G>C (p.Gly1164Ala) c.3488G>C (p.Gly1163Ala) c.3350G>C (p.Gly1117Ala) c.3023G>C (p.Gly1008Ala) c.3020G>C (p.Gly1007Ala) c.3119G>C (p.Gly1040Ala) c.*3047G>C (n.*3047G>C) c.2106+182688G>C (n.2106+182688G>C) n.110G>C | |
3 | g.184327395G>T | CA355415259 | EIF2B5,EIF4G1 | c.3608G>T (p.Gly1203Val) c.3542G>T (p.Gly1181Val) c.2955G>T (n.2955G>T) c.3011G>T (p.Gly1004Val) c.3611G>T (p.Gly1204Val) c.3116G>T (p.Gly1039Val) c.3629G>T (p.Gly1210Val) c.3347G>T (p.Gly1116Val) c.3491G>T (p.Gly1164Val) c.3488G>T (p.Gly1163Val) c.3350G>T (p.Gly1117Val) c.3023G>T (p.Gly1008Val) c.3020G>T (p.Gly1007Val) c.3119G>T (p.Gly1040Val) c.*3047G>T (n.*3047G>T) c.2106+182688G>T (n.2106+182688G>T) n.110G>T | |
3 | g.184327396G>A | CA437330616 | EIF2B5,EIF4G1 | c.3609G>A (p.Gly1203=) c.3543G>A (p.Gly1181=) c.2956G>A (n.2956G>A) c.3012G>A (p.Gly1004=) c.3612G>A (p.Gly1204=) c.3117G>A (p.Gly1039=) c.3630G>A (p.Gly1210=) c.3348G>A (p.Gly1116=) c.3492G>A (p.Gly1164=) c.3489G>A (p.Gly1163=) c.3351G>A (p.Gly1117=) c.3024G>A (p.Gly1008=) c.3021G>A (p.Gly1007=) c.3120G>A (p.Gly1040=) c.*3048G>A (n.*3048G>A) c.2106+182689G>A (n.2106+182689G>A) n.111G>A | gnomAD v4 |
3 | g.184327396G>C | CA437330617 | EIF2B5,EIF4G1 | c.3609G>C (p.Gly1203=) c.3543G>C (p.Gly1181=) c.2956G>C (n.2956G>C) c.3012G>C (p.Gly1004=) c.3612G>C (p.Gly1204=) c.3117G>C (p.Gly1039=) c.3630G>C (p.Gly1210=) c.3348G>C (p.Gly1116=) c.3492G>C (p.Gly1164=) c.3489G>C (p.Gly1163=) c.3351G>C (p.Gly1117=) c.3024G>C (p.Gly1008=) c.3021G>C (p.Gly1007=) c.3120G>C (p.Gly1040=) c.*3048G>C (n.*3048G>C) c.2106+182689G>C (n.2106+182689G>C) n.111G>C | |
3 | g.184327396G>T | CA437330615 | EIF2B5,EIF4G1 | c.3609G>T (p.Gly1203=) c.3543G>T (p.Gly1181=) c.2956G>T (n.2956G>T) c.3012G>T (p.Gly1004=) c.3612G>T (p.Gly1204=) c.3117G>T (p.Gly1039=) c.3630G>T (p.Gly1210=) c.3348G>T (p.Gly1116=) c.3492G>T (p.Gly1164=) c.3489G>T (p.Gly1163=) c.3351G>T (p.Gly1117=) c.3024G>T (p.Gly1008=) c.3021G>T (p.Gly1007=) c.3120G>T (p.Gly1040=) c.*3048G>T (n.*3048G>T) c.2106+182689G>T (n.2106+182689G>T) n.111G>T | gnomAD v4 |
3 | g.184327397C>A | CA355415265 | EIF2B5,EIF4G1 | c.3610C>A (p.Leu1204Met) c.3544C>A (p.Leu1182Met) c.2957C>A (n.2957C>A) c.3013C>A (p.Leu1005Met) c.3613C>A (p.Leu1205Met) c.3118C>A (p.Leu1040Met) c.3631C>A (p.Leu1211Met) c.3349C>A (p.Leu1117Met) c.3493C>A (p.Leu1165Met) c.3490C>A (p.Leu1164Met) c.3352C>A (p.Leu1118Met) c.3025C>A (p.Leu1009Met) c.3022C>A (p.Leu1008Met) c.3121C>A (p.Leu1041Met) c.*3049C>A (n.*3049C>A) c.2106+182690C>A (n.2106+182690C>A) n.112C>A | |
3 | g.184327397C>G | CA355415267 | EIF2B5,EIF4G1 | c.3610C>G (p.Leu1204Val) c.3544C>G (p.Leu1182Val) c.2957C>G (n.2957C>G) c.3013C>G (p.Leu1005Val) c.3613C>G (p.Leu1205Val) c.3118C>G (p.Leu1040Val) c.3631C>G (p.Leu1211Val) c.3349C>G (p.Leu1117Val) c.3493C>G (p.Leu1165Val) c.3490C>G (p.Leu1164Val) c.3352C>G (p.Leu1118Val) c.3025C>G (p.Leu1009Val) c.3022C>G (p.Leu1008Val) c.3121C>G (p.Leu1041Val) c.*3049C>G (n.*3049C>G) c.2106+182690C>G (n.2106+182690C>G) n.112C>G | |
3 | g.184327397C>T | CA437330618 | EIF2B5,EIF4G1 | c.3610C>T (p.Leu1204=) c.3544C>T (p.Leu1182=) c.2957C>T (n.2957C>T) c.3013C>T (p.Leu1005=) c.3613C>T (p.Leu1205=) c.3118C>T (p.Leu1040=) c.3631C>T (p.Leu1211=) c.3349C>T (p.Leu1117=) c.3493C>T (p.Leu1165=) c.3490C>T (p.Leu1164=) c.3352C>T (p.Leu1118=) c.3025C>T (p.Leu1009=) c.3022C>T (p.Leu1008=) c.3121C>T (p.Leu1041=) c.*3049C>T (n.*3049C>T) c.2106+182690C>T (n.2106+182690C>T) n.112C>T | gnomAD v4 |
3 | g.184327398T>A | CA355415269 | EIF2B5,EIF4G1 | c.3611T>A (p.Leu1204Gln) c.3545T>A (p.Leu1182Gln) c.2958T>A (n.2958T>A) c.3014T>A (p.Leu1005Gln) c.3614T>A (p.Leu1205Gln) c.3119T>A (p.Leu1040Gln) c.3632T>A (p.Leu1211Gln) c.3350T>A (p.Leu1117Gln) c.3494T>A (p.Leu1165Gln) c.3491T>A (p.Leu1164Gln) c.3353T>A (p.Leu1118Gln) c.3026T>A (p.Leu1009Gln) c.3023T>A (p.Leu1008Gln) c.3122T>A (p.Leu1041Gln) c.*3050T>A (n.*3050T>A) c.2106+182691T>A (n.2106+182691T>A) n.113T>A | |
3 | g.184327398T>C | CA2732855 | EIF2B5,EIF4G1 | c.3611T>C (p.Leu1204Pro) c.3545T>C (p.Leu1182Pro) c.2958T>C (n.2958T>C) c.3014T>C (p.Leu1005Pro) c.3614T>C (p.Leu1205Pro) c.3119T>C (p.Leu1040Pro) c.3632T>C (p.Leu1211Pro) c.3350T>C (p.Leu1117Pro) c.3494T>C (p.Leu1165Pro) c.3491T>C (p.Leu1164Pro) c.3353T>C (p.Leu1118Pro) c.3026T>C (p.Leu1009Pro) c.3023T>C (p.Leu1008Pro) c.3122T>C (p.Leu1041Pro) c.*3050T>C (n.*3050T>C) c.2106+182691T>C (n.2106+182691T>C) n.113T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.184327398T>G | CA355415272 | EIF2B5,EIF4G1 | c.3611T>G (p.Leu1204Arg) c.3545T>G (p.Leu1182Arg) c.2958T>G (n.2958T>G) c.3014T>G (p.Leu1005Arg) c.3614T>G (p.Leu1205Arg) c.3119T>G (p.Leu1040Arg) c.3632T>G (p.Leu1211Arg) c.3350T>G (p.Leu1117Arg) c.3494T>G (p.Leu1165Arg) c.3491T>G (p.Leu1164Arg) c.3353T>G (p.Leu1118Arg) c.3026T>G (p.Leu1009Arg) c.3023T>G (p.Leu1008Arg) c.3122T>G (p.Leu1041Arg) c.*3050T>G (n.*3050T>G) c.2106+182691T>G (n.2106+182691T>G) n.113T>G | |
3 | g.184327398T= | CA1425958390 | EIF2B5,EIF4G1 | c.3611T= (p.Leu1204=) c.3545T= (p.Leu1182=) c.2958T= (n.2958T=) c.3014T= (p.Leu1005=) c.3614T= (p.Leu1205=) c.3119T= (p.Leu1040=) c.3632T= (p.Leu1211=) c.3350T= (p.Leu1117=) c.3494T= (p.Leu1165=) c.3491T= (p.Leu1164=) c.3353T= (p.Leu1118=) c.3026T= (p.Leu1009=) c.3023T= (p.Leu1008=) c.3122T= (p.Leu1041=) c.*3050T= (n.*3050T=) c.2106+182691T= (n.2106+182691T=) n.113T= | |
3 | g.184327399G>A | CA437330619 | EIF2B5,EIF4G1 | c.3612G>A (p.Leu1204=) c.3546G>A (p.Leu1182=) c.2959G>A (n.2959G>A) c.3015G>A (p.Leu1005=) c.3615G>A (p.Leu1205=) c.3120G>A (p.Leu1040=) c.3633G>A (p.Leu1211=) c.3351G>A (p.Leu1117=) c.3495G>A (p.Leu1165=) c.3492G>A (p.Leu1164=) c.3354G>A (p.Leu1118=) c.3027G>A (p.Leu1009=) c.3024G>A (p.Leu1008=) c.3123G>A (p.Leu1041=) c.*3051G>A (n.*3051G>A) c.2106+182692G>A (n.2106+182692G>A) n.114G>A | |
3 | g.184327399G>C | CA437330620 | EIF2B5,EIF4G1 | c.3612G>C (p.Leu1204=) c.3546G>C (p.Leu1182=) c.2959G>C (n.2959G>C) c.3015G>C (p.Leu1005=) c.3615G>C (p.Leu1205=) c.3120G>C (p.Leu1040=) c.3633G>C (p.Leu1211=) c.3351G>C (p.Leu1117=) c.3495G>C (p.Leu1165=) c.3492G>C (p.Leu1164=) c.3354G>C (p.Leu1118=) c.3027G>C (p.Leu1009=) c.3024G>C (p.Leu1008=) c.3123G>C (p.Leu1041=) c.*3051G>C (n.*3051G>C) c.2106+182692G>C (n.2106+182692G>C) n.114G>C | |
3 | g.184327399G>T | CA437330621 | EIF2B5,EIF4G1 | c.3612G>T (p.Leu1204=) c.3546G>T (p.Leu1182=) c.2959G>T (n.2959G>T) c.3015G>T (p.Leu1005=) c.3615G>T (p.Leu1205=) c.3120G>T (p.Leu1040=) c.3633G>T (p.Leu1211=) c.3351G>T (p.Leu1117=) c.3495G>T (p.Leu1165=) c.3492G>T (p.Leu1164=) c.3354G>T (p.Leu1118=) c.3027G>T (p.Leu1009=) c.3024G>T (p.Leu1008=) c.3123G>T (p.Leu1041=) c.*3051G>T (n.*3051G>T) c.2106+182692G>T (n.2106+182692G>T) n.114G>T | |
3 | g.184327400C>A | CA355415276 | EIF2B5,EIF4G1 | c.3613C>A (p.Arg1205Ser) c.3547C>A (p.Arg1183Ser) c.2960C>A (n.2960C>A) c.3016C>A (p.Arg1006Ser) c.3616C>A (p.Arg1206Ser) c.3121C>A (p.Arg1041Ser) c.3634C>A (p.Arg1212Ser) c.3352C>A (p.Arg1118Ser) c.3496C>A (p.Arg1166Ser) c.3493C>A (p.Arg1165Ser) c.3355C>A (p.Arg1119Ser) c.3028C>A (p.Arg1010Ser) c.3025C>A (p.Arg1009Ser) c.3124C>A (p.Arg1042Ser) c.*3052C>A (n.*3052C>A) c.2106+182693C>A (n.2106+182693C>A) n.115C>A | |
3 | g.184327400C= | CA1425958392 | EIF2B5,EIF4G1 | c.3613C= (p.Arg1205=) c.3547C= (p.Arg1183=) c.2960C= (n.2960C=) c.3016C= (p.Arg1006=) c.3616C= (p.Arg1206=) c.3121C= (p.Arg1041=) c.3634C= (p.Arg1212=) c.3352C= (p.Arg1118=) c.3496C= (p.Arg1166=) c.3493C= (p.Arg1165=) c.3355C= (p.Arg1119=) c.3028C= (p.Arg1010=) c.3025C= (p.Arg1009=) c.3124C= (p.Arg1042=) c.*3052C= (n.*3052C=) c.2106+182693C= (n.2106+182693C=) n.115C= | |
3 | g.184327400C>G | CA355415278 | EIF2B5,EIF4G1 | c.3613C>G (p.Arg1205Gly) c.3547C>G (p.Arg1183Gly) c.2960C>G (n.2960C>G) c.3016C>G (p.Arg1006Gly) c.3616C>G (p.Arg1206Gly) c.3121C>G (p.Arg1041Gly) c.3634C>G (p.Arg1212Gly) c.3352C>G (p.Arg1118Gly) c.3496C>G (p.Arg1166Gly) c.3493C>G (p.Arg1165Gly) c.3355C>G (p.Arg1119Gly) c.3028C>G (p.Arg1010Gly) c.3025C>G (p.Arg1009Gly) c.3124C>G (p.Arg1042Gly) c.*3052C>G (n.*3052C>G) c.2106+182693C>G (n.2106+182693C>G) n.115C>G | |
3 | g.184327400C>T | CA2732856 | EIF2B5,EIF4G1 | c.3613C>T (p.Arg1205Cys) c.3547C>T (p.Arg1183Cys) c.2960C>T (n.2960C>T) c.3016C>T (p.Arg1006Cys) c.3616C>T (p.Arg1206Cys) c.3121C>T (p.Arg1041Cys) c.3634C>T (p.Arg1212Cys) c.3352C>T (p.Arg1118Cys) c.3496C>T (p.Arg1166Cys) c.3493C>T (p.Arg1165Cys) c.3355C>T (p.Arg1119Cys) c.3028C>T (p.Arg1010Cys) c.3025C>T (p.Arg1009Cys) c.3124C>T (p.Arg1042Cys) c.*3052C>T (n.*3052C>T) c.2106+182693C>T (n.2106+182693C>T) n.115C>T | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
3 | g.184327401G>A | CA128909 | EIF2B5,EIF4G1 | c.3614G>A (p.Arg1205His) c.3548G>A (p.Arg1183His) c.2961G>A (n.2961G>A) c.3017G>A (p.Arg1006His) c.3617G>A (p.Arg1206His) c.3122G>A (p.Arg1041His) c.3635G>A (p.Arg1212His) c.3353G>A (p.Arg1118His) c.3497G>A (p.Arg1166His) c.3494G>A (p.Arg1165His) c.3356G>A (p.Arg1119His) c.3029G>A (p.Arg1010His) c.3026G>A (p.Arg1009His) c.3125G>A (p.Arg1042His) c.*3053G>A (n.*3053G>A) c.2106+182694G>A (n.2106+182694G>A) n.116G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.184327401G>C | CA355415286 | EIF2B5,EIF4G1 | c.3614G>C (p.Arg1205Pro) c.3548G>C (p.Arg1183Pro) c.2961G>C (n.2961G>C) c.3017G>C (p.Arg1006Pro) c.3617G>C (p.Arg1206Pro) c.3122G>C (p.Arg1041Pro) c.3635G>C (p.Arg1212Pro) c.3353G>C (p.Arg1118Pro) c.3497G>C (p.Arg1166Pro) c.3494G>C (p.Arg1165Pro) c.3356G>C (p.Arg1119Pro) c.3029G>C (p.Arg1010Pro) c.3026G>C (p.Arg1009Pro) c.3125G>C (p.Arg1042Pro) c.*3053G>C (n.*3053G>C) c.2106+182694G>C (n.2106+182694G>C) n.116G>C | |
3 | g.184327401G= | CA1425958399 | EIF2B5,EIF4G1 | c.3614G= (p.Arg1205=) c.3548G= (p.Arg1183=) c.2961G= (n.2961G=) c.3017G= (p.Arg1006=) c.3617G= (p.Arg1206=) c.3122G= (p.Arg1041=) c.3635G= (p.Arg1212=) c.3353G= (p.Arg1118=) c.3497G= (p.Arg1166=) c.3494G= (p.Arg1165=) c.3356G= (p.Arg1119=) c.3029G= (p.Arg1010=) c.3026G= (p.Arg1009=) c.3125G= (p.Arg1042=) c.*3053G= (n.*3053G=) c.2106+182694G= (n.2106+182694G=) n.116G= | |
3 | g.184327401G>T | CA355415284 | EIF2B5,EIF4G1 | c.3614G>T (p.Arg1205Leu) c.3548G>T (p.Arg1183Leu) c.2961G>T (n.2961G>T) c.3017G>T (p.Arg1006Leu) c.3617G>T (p.Arg1206Leu) c.3122G>T (p.Arg1041Leu) c.3635G>T (p.Arg1212Leu) c.3353G>T (p.Arg1118Leu) c.3497G>T (p.Arg1166Leu) c.3494G>T (p.Arg1165Leu) c.3356G>T (p.Arg1119Leu) c.3029G>T (p.Arg1010Leu) c.3026G>T (p.Arg1009Leu) c.3125G>T (p.Arg1042Leu) c.*3053G>T (n.*3053G>T) c.2106+182694G>T (n.2106+182694G>T) n.116G>T | dbSNP gnomAD v4 |
3 | g.184327402C>A | CA437330627 | EIF2B5,EIF4G1 | c.3615C>A (p.Arg1205=) c.3549C>A (p.Arg1183=) c.2962C>A (n.2962C>A) c.3018C>A (p.Arg1006=) c.3618C>A (p.Arg1206=) c.3123C>A (p.Arg1041=) c.3636C>A (p.Arg1212=) c.3354C>A (p.Arg1118=) c.3498C>A (p.Arg1166=) c.3495C>A (p.Arg1165=) c.3357C>A (p.Arg1119=) c.3030C>A (p.Arg1010=) c.3027C>A (p.Arg1009=) c.3126C>A (p.Arg1042=) c.*3054C>A (n.*3054C>A) c.2106+182695C>A (n.2106+182695C>A) n.117C>A | |
3 | g.184327402C= | CA1425958407 | EIF2B5,EIF4G1 | c.3615C= (p.Arg1205=) c.3549C= (p.Arg1183=) c.2962C= (n.2962C=) c.3018C= (p.Arg1006=) c.3618C= (p.Arg1206=) c.3123C= (p.Arg1041=) c.3636C= (p.Arg1212=) c.3354C= (p.Arg1118=) c.3498C= (p.Arg1166=) c.3495C= (p.Arg1165=) c.3357C= (p.Arg1119=) c.3030C= (p.Arg1010=) c.3027C= (p.Arg1009=) c.3126C= (p.Arg1042=) c.*3054C= (n.*3054C=) c.2106+182695C= (n.2106+182695C=) n.117C= | |
3 | g.184327402C>G | CA437330626 | EIF2B5,EIF4G1 | c.3615C>G (p.Arg1205=) c.3549C>G (p.Arg1183=) c.2962C>G (n.2962C>G) c.3018C>G (p.Arg1006=) c.3618C>G (p.Arg1206=) c.3123C>G (p.Arg1041=) c.3636C>G (p.Arg1212=) c.3354C>G (p.Arg1118=) c.3498C>G (p.Arg1166=) c.3495C>G (p.Arg1165=) c.3357C>G (p.Arg1119=) c.3030C>G (p.Arg1010=) c.3027C>G (p.Arg1009=) c.3126C>G (p.Arg1042=) c.*3054C>G (n.*3054C>G) c.2106+182695C>G (n.2106+182695C>G) n.117C>G | |
3 | g.184327402C>T | CA2732857 | EIF2B5,EIF4G1 | c.3615C>T (p.Arg1205=) c.3549C>T (p.Arg1183=) c.2962C>T (n.2962C>T) c.3018C>T (p.Arg1006=) c.3618C>T (p.Arg1206=) c.3123C>T (p.Arg1041=) c.3636C>T (p.Arg1212=) c.3354C>T (p.Arg1118=) c.3498C>T (p.Arg1166=) c.3495C>T (p.Arg1165=) c.3357C>T (p.Arg1119=) c.3030C>T (p.Arg1010=) c.3027C>T (p.Arg1009=) c.3126C>T (p.Arg1042=) c.*3054C>T (n.*3054C>T) c.2106+182695C>T (n.2106+182695C>T) n.117C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.184327403A= | CA1425958410 | EIF2B5,EIF4G1 | c.3616A= (p.Lys1206=) c.3550A= (p.Lys1184=) c.2963A= (n.2963A=) c.3019A= (p.Lys1007=) c.3619A= (p.Lys1207=) c.3124A= (p.Lys1042=) c.3637A= (p.Lys1213=) c.3355A= (p.Lys1119=) c.3499A= (p.Lys1167=) c.3496A= (p.Lys1166=) c.3358A= (p.Lys1120=) c.3031A= (p.Lys1011=) c.3028A= (p.Lys1010=) c.3127A= (p.Lys1043=) c.*3055A= (n.*3055A=) c.2106+182696A= (n.2106+182696A=) n.118A= | |
3 | g.184327403A>C | CA355415293 | EIF2B5,EIF4G1 | c.3616A>C (p.Lys1206Gln) c.3550A>C (p.Lys1184Gln) c.2963A>C (n.2963A>C) c.3019A>C (p.Lys1007Gln) c.3619A>C (p.Lys1207Gln) c.3124A>C (p.Lys1042Gln) c.3637A>C (p.Lys1213Gln) c.3355A>C (p.Lys1119Gln) c.3499A>C (p.Lys1167Gln) c.3496A>C (p.Lys1166Gln) c.3358A>C (p.Lys1120Gln) c.3031A>C (p.Lys1011Gln) c.3028A>C (p.Lys1010Gln) c.3127A>C (p.Lys1043Gln) c.*3055A>C (n.*3055A>C) c.2106+182696A>C (n.2106+182696A>C) n.118A>C | |
3 | g.184327403A>G | CA88867659 | EIF2B5,EIF4G1 | c.3616A>G (p.Lys1206Glu) c.3550A>G (p.Lys1184Glu) c.2963A>G (n.2963A>G) c.3019A>G (p.Lys1007Glu) c.3619A>G (p.Lys1207Glu) c.3124A>G (p.Lys1042Glu) c.3637A>G (p.Lys1213Glu) c.3355A>G (p.Lys1119Glu) c.3499A>G (p.Lys1167Glu) c.3496A>G (p.Lys1166Glu) c.3358A>G (p.Lys1120Glu) c.3031A>G (p.Lys1011Glu) c.3028A>G (p.Lys1010Glu) c.3127A>G (p.Lys1043Glu) c.*3055A>G (n.*3055A>G) c.2106+182696A>G (n.2106+182696A>G) n.118A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.184327403A>T | CA355415296 | EIF2B5,EIF4G1 | c.3616A>T (p.Lys1206Ter) c.3550A>T (p.Lys1184Ter) c.2963A>T (n.2963A>T) c.3019A>T (p.Lys1007Ter) c.3619A>T (p.Lys1207Ter) c.3124A>T (p.Lys1042Ter) c.3637A>T (p.Lys1213Ter) c.3355A>T (p.Lys1119Ter) c.3499A>T (p.Lys1167Ter) c.3496A>T (p.Lys1166Ter) c.3358A>T (p.Lys1120Ter) c.3031A>T (p.Lys1011Ter) c.3028A>T (p.Lys1010Ter) c.3127A>T (p.Lys1043Ter) c.*3055A>T (n.*3055A>T) c.2106+182696A>T (n.2106+182696A>T) n.118A>T | |
3 | g.184327404A>C | CA355415300 | EIF2B5,EIF4G1 | c.3617A>C (p.Lys1206Thr) c.3551A>C (p.Lys1184Thr) c.2964A>C (n.2964A>C) c.3020A>C (p.Lys1007Thr) c.3620A>C (p.Lys1207Thr) c.3125A>C (p.Lys1042Thr) c.3638A>C (p.Lys1213Thr) c.3356A>C (p.Lys1119Thr) c.3500A>C (p.Lys1167Thr) c.3497A>C (p.Lys1166Thr) c.3359A>C (p.Lys1120Thr) c.3032A>C (p.Lys1011Thr) c.3029A>C (p.Lys1010Thr) c.3128A>C (p.Lys1043Thr) c.*3056A>C (n.*3056A>C) c.2106+182697A>C (n.2106+182697A>C) n.119A>C | |
3 | g.184327404A>G | CA355415304 | EIF2B5,EIF4G1 | c.3617A>G (p.Lys1206Arg) c.3551A>G (p.Lys1184Arg) c.2964A>G (n.2964A>G) c.3020A>G (p.Lys1007Arg) c.3620A>G (p.Lys1207Arg) c.3125A>G (p.Lys1042Arg) c.3638A>G (p.Lys1213Arg) c.3356A>G (p.Lys1119Arg) c.3500A>G (p.Lys1167Arg) c.3497A>G (p.Lys1166Arg) c.3359A>G (p.Lys1120Arg) c.3032A>G (p.Lys1011Arg) c.3029A>G (p.Lys1010Arg) c.3128A>G (p.Lys1043Arg) c.*3056A>G (n.*3056A>G) c.2106+182697A>G (n.2106+182697A>G) n.119A>G | |
3 | g.184327404A>T | CA355415306 | EIF2B5,EIF4G1 | c.3617A>T (p.Lys1206Met) c.3551A>T (p.Lys1184Met) c.2964A>T (n.2964A>T) c.3020A>T (p.Lys1007Met) c.3620A>T (p.Lys1207Met) c.3125A>T (p.Lys1042Met) c.3638A>T (p.Lys1213Met) c.3356A>T (p.Lys1119Met) c.3500A>T (p.Lys1167Met) c.3497A>T (p.Lys1166Met) c.3359A>T (p.Lys1120Met) c.3032A>T (p.Lys1011Met) c.3029A>T (p.Lys1010Met) c.3128A>T (p.Lys1043Met) c.*3056A>T (n.*3056A>T) c.2106+182697A>T (n.2106+182697A>T) n.119A>T | |
3 | g.184327405G>A | CA88867665 | EIF2B5,EIF4G1 | c.3618G>A (p.Lys1206=) c.3552G>A (p.Lys1184=) c.2965G>A (n.2965G>A) c.3021G>A (p.Lys1007=) c.3621G>A (p.Lys1207=) c.3126G>A (p.Lys1042=) c.3639G>A (p.Lys1213=) c.3357G>A (p.Lys1119=) c.3501G>A (p.Lys1167=) c.3498G>A (p.Lys1166=) c.3360G>A (p.Lys1120=) c.3033G>A (p.Lys1011=) c.3030G>A (p.Lys1010=) c.3129G>A (p.Lys1043=) c.*3057G>A (n.*3057G>A) c.2106+182698G>A (n.2106+182698G>A) n.120G>A | dbSNP |
3 | g.184327405G>C | CA355415314 | EIF2B5,EIF4G1 | c.3618G>C (p.Lys1206Asn) c.3552G>C (p.Lys1184Asn) c.2965G>C (n.2965G>C) c.3021G>C (p.Lys1007Asn) c.3621G>C (p.Lys1207Asn) c.3126G>C (p.Lys1042Asn) c.3639G>C (p.Lys1213Asn) c.3357G>C (p.Lys1119Asn) c.3501G>C (p.Lys1167Asn) c.3498G>C (p.Lys1166Asn) c.3360G>C (p.Lys1120Asn) c.3033G>C (p.Lys1011Asn) c.3030G>C (p.Lys1010Asn) c.3129G>C (p.Lys1043Asn) c.*3057G>C (n.*3057G>C) c.2106+182698G>C (n.2106+182698G>C) n.120G>C | |
3 | g.184327405G= | CA1425958413 | EIF2B5,EIF4G1 | c.3618G= (p.Lys1206=) c.3552G= (p.Lys1184=) c.2965G= (n.2965G=) c.3021G= (p.Lys1007=) c.3621G= (p.Lys1207=) c.3126G= (p.Lys1042=) c.3639G= (p.Lys1213=) c.3357G= (p.Lys1119=) c.3501G= (p.Lys1167=) c.3498G= (p.Lys1166=) c.3360G= (p.Lys1120=) c.3033G= (p.Lys1011=) c.3030G= (p.Lys1010=) c.3129G= (p.Lys1043=) c.*3057G= (n.*3057G=) c.2106+182698G= (n.2106+182698G=) n.120G= | |
3 | g.184327405G>T | CA355415312 | EIF2B5,EIF4G1 | c.3618G>T (p.Lys1206Asn) c.3552G>T (p.Lys1184Asn) c.2965G>T (n.2965G>T) c.3021G>T (p.Lys1007Asn) c.3621G>T (p.Lys1207Asn) c.3126G>T (p.Lys1042Asn) c.3639G>T (p.Lys1213Asn) c.3357G>T (p.Lys1119Asn) c.3501G>T (p.Lys1167Asn) c.3498G>T (p.Lys1166Asn) c.3360G>T (p.Lys1120Asn) c.3033G>T (p.Lys1011Asn) c.3030G>T (p.Lys1010Asn) c.3129G>T (p.Lys1043Asn) c.*3057G>T (n.*3057G>T) c.2106+182698G>T (n.2106+182698G>T) n.120G>T | |
3 | g.184327406G>A | CA355415316 | EIF2B5,EIF4G1 | c.3619G>A (p.Ala1207Thr) c.3553G>A (p.Ala1185Thr) c.2966G>A (n.2966G>A) c.3022G>A (p.Ala1008Thr) c.3622G>A (p.Ala1208Thr) c.3127G>A (p.Ala1043Thr) c.3640G>A (p.Ala1214Thr) c.3358G>A (p.Ala1120Thr) c.3502G>A (p.Ala1168Thr) c.3499G>A (p.Ala1167Thr) c.3361G>A (p.Ala1121Thr) c.3034G>A (p.Ala1012Thr) c.3031G>A (p.Ala1011Thr) c.3130G>A (p.Ala1044Thr) c.*3058G>A (n.*3058G>A) c.2106+182699G>A (n.2106+182699G>A) n.121G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.184327406G>C | CA355415317 | EIF2B5,EIF4G1 | c.3619G>C (p.Ala1207Pro) c.3553G>C (p.Ala1185Pro) c.2966G>C (n.2966G>C) c.3022G>C (p.Ala1008Pro) c.3622G>C (p.Ala1208Pro) c.3127G>C (p.Ala1043Pro) c.3640G>C (p.Ala1214Pro) c.3358G>C (p.Ala1120Pro) c.3502G>C (p.Ala1168Pro) c.3499G>C (p.Ala1167Pro) c.3361G>C (p.Ala1121Pro) c.3034G>C (p.Ala1012Pro) c.3031G>C (p.Ala1011Pro) c.3130G>C (p.Ala1044Pro) c.*3058G>C (n.*3058G>C) c.2106+182699G>C (n.2106+182699G>C) n.121G>C | gnomAD v4 |
3 | g.184327406G= | CA1425958416 | EIF2B5,EIF4G1 | c.3619G= (p.Ala1207=) c.3553G= (p.Ala1185=) c.2966G= (n.2966G=) c.3022G= (p.Ala1008=) c.3622G= (p.Ala1208=) c.3127G= (p.Ala1043=) c.3640G= (p.Ala1214=) c.3358G= (p.Ala1120=) c.3502G= (p.Ala1168=) c.3499G= (p.Ala1167=) c.3361G= (p.Ala1121=) c.3034G= (p.Ala1012=) c.3031G= (p.Ala1011=) c.3130G= (p.Ala1044=) c.*3058G= (n.*3058G=) c.2106+182699G= (n.2106+182699G=) n.121G= | |
3 | g.184327406G>T | CA355415320 | EIF2B5,EIF4G1 | c.3619G>T (p.Ala1207Ser) c.3553G>T (p.Ala1185Ser) c.2966G>T (n.2966G>T) c.3022G>T (p.Ala1008Ser) c.3622G>T (p.Ala1208Ser) c.3127G>T (p.Ala1043Ser) c.3640G>T (p.Ala1214Ser) c.3358G>T (p.Ala1120Ser) c.3502G>T (p.Ala1168Ser) c.3499G>T (p.Ala1167Ser) c.3361G>T (p.Ala1121Ser) c.3034G>T (p.Ala1012Ser) c.3031G>T (p.Ala1011Ser) c.3130G>T (p.Ala1044Ser) c.*3058G>T (n.*3058G>T) c.2106+182699G>T (n.2106+182699G>T) n.121G>T | |
3 | g.184327407C>A | CA355415323 | EIF2B5,EIF4G1 | c.3620C>A (p.Ala1207Glu) c.3554C>A (p.Ala1185Glu) c.2967C>A (n.2967C>A) c.3023C>A (p.Ala1008Glu) c.3623C>A (p.Ala1208Glu) c.3128C>A (p.Ala1043Glu) c.3641C>A (p.Ala1214Glu) c.3359C>A (p.Ala1120Glu) c.3503C>A (p.Ala1168Glu) c.3500C>A (p.Ala1167Glu) c.3362C>A (p.Ala1121Glu) c.3035C>A (p.Ala1012Glu) c.3032C>A (p.Ala1011Glu) c.3131C>A (p.Ala1044Glu) c.*3059C>A (n.*3059C>A) c.2106+182700C>A (n.2106+182700C>A) n.122C>A | |
3 | g.184327407C>G | CA355415325 | EIF2B5,EIF4G1 | c.3620C>G (p.Ala1207Gly) c.3554C>G (p.Ala1185Gly) c.2967C>G (n.2967C>G) c.3023C>G (p.Ala1008Gly) c.3623C>G (p.Ala1208Gly) c.3128C>G (p.Ala1043Gly) c.3641C>G (p.Ala1214Gly) c.3359C>G (p.Ala1120Gly) c.3503C>G (p.Ala1168Gly) c.3500C>G (p.Ala1167Gly) c.3362C>G (p.Ala1121Gly) c.3035C>G (p.Ala1012Gly) c.3032C>G (p.Ala1011Gly) c.3131C>G (p.Ala1044Gly) c.*3059C>G (n.*3059C>G) c.2106+182700C>G (n.2106+182700C>G) n.122C>G | |
3 | g.184327407C>T | CA355415327 | EIF2B5,EIF4G1 | c.3620C>T (p.Ala1207Val) c.3554C>T (p.Ala1185Val) c.2967C>T (n.2967C>T) c.3023C>T (p.Ala1008Val) c.3623C>T (p.Ala1208Val) c.3128C>T (p.Ala1043Val) c.3641C>T (p.Ala1214Val) c.3359C>T (p.Ala1120Val) c.3503C>T (p.Ala1168Val) c.3500C>T (p.Ala1167Val) c.3362C>T (p.Ala1121Val) c.3035C>T (p.Ala1012Val) c.3032C>T (p.Ala1011Val) c.3131C>T (p.Ala1044Val) c.*3059C>T (n.*3059C>T) c.2106+182700C>T (n.2106+182700C>T) n.122C>T | |
3 | g.184327408A>C | CA437330639 | EIF2B5,EIF4G1 | c.3621A>C (p.Ala1207=) c.3555A>C (p.Ala1185=) c.2968A>C (n.2968A>C) c.3024A>C (p.Ala1008=) c.3624A>C (p.Ala1208=) c.3129A>C (p.Ala1043=) c.3642A>C (p.Ala1214=) c.3360A>C (p.Ala1120=) c.3504A>C (p.Ala1168=) c.3501A>C (p.Ala1167=) c.3363A>C (p.Ala1121=) c.3036A>C (p.Ala1012=) c.3033A>C (p.Ala1011=) c.3132A>C (p.Ala1044=) c.*3060A>C (n.*3060A>C) c.2106+182701A>C (n.2106+182701A>C) n.123A>C | |
3 | g.184327408A>G | CA437330640 | EIF2B5,EIF4G1 | c.3621A>G (p.Ala1207=) c.3555A>G (p.Ala1185=) c.2968A>G (n.2968A>G) c.3024A>G (p.Ala1008=) c.3624A>G (p.Ala1208=) c.3129A>G (p.Ala1043=) c.3642A>G (p.Ala1214=) c.3360A>G (p.Ala1120=) c.3504A>G (p.Ala1168=) c.3501A>G (p.Ala1167=) c.3363A>G (p.Ala1121=) c.3036A>G (p.Ala1012=) c.3033A>G (p.Ala1011=) c.3132A>G (p.Ala1044=) c.*3060A>G (n.*3060A>G) c.2106+182701A>G (n.2106+182701A>G) n.123A>G | |
3 | g.184327408A>T | CA437330641 | EIF2B5,EIF4G1 | c.3621A>T (p.Ala1207=) c.3555A>T (p.Ala1185=) c.2968A>T (n.2968A>T) c.3024A>T (p.Ala1008=) c.3624A>T (p.Ala1208=) c.3129A>T (p.Ala1043=) c.3642A>T (p.Ala1214=) c.3360A>T (p.Ala1120=) c.3504A>T (p.Ala1168=) c.3501A>T (p.Ala1167=) c.3363A>T (p.Ala1121=) c.3036A>T (p.Ala1012=) c.3033A>T (p.Ala1011=) c.3132A>T (p.Ala1044=) c.*3060A>T (n.*3060A>T) c.2106+182701A>T (n.2106+182701A>T) n.123A>T | |
3 | g.184327409G>A | CA355415331 | EIF2B5,EIF4G1 | c.3622G>A (p.Ala1208Thr) c.3556G>A (p.Ala1186Thr) c.2969G>A (n.2969G>A) c.3025G>A (p.Ala1009Thr) c.3625G>A (p.Ala1209Thr) c.3130G>A (p.Ala1044Thr) c.3643G>A (p.Ala1215Thr) c.3361G>A (p.Ala1121Thr) c.3505G>A (p.Ala1169Thr) c.3502G>A (p.Ala1168Thr) c.3364G>A (p.Ala1122Thr) c.3037G>A (p.Ala1013Thr) c.3034G>A (p.Ala1012Thr) c.3133G>A (p.Ala1045Thr) c.*3061G>A (n.*3061G>A) c.2106+182702G>A (n.2106+182702G>A) n.124G>A | |
3 | g.184327409G>C | CA355415333 | EIF2B5,EIF4G1 | c.3622G>C (p.Ala1208Pro) c.3556G>C (p.Ala1186Pro) c.2969G>C (n.2969G>C) c.3025G>C (p.Ala1009Pro) c.3625G>C (p.Ala1209Pro) c.3130G>C (p.Ala1044Pro) c.3643G>C (p.Ala1215Pro) c.3361G>C (p.Ala1121Pro) c.3505G>C (p.Ala1169Pro) c.3502G>C (p.Ala1168Pro) c.3364G>C (p.Ala1122Pro) c.3037G>C (p.Ala1013Pro) c.3034G>C (p.Ala1012Pro) c.3133G>C (p.Ala1045Pro) c.*3061G>C (n.*3061G>C) c.2106+182702G>C (n.2106+182702G>C) n.124G>C | |
3 | g.184327409G>T | CA355415336 | EIF2B5,EIF4G1 | c.3622G>T (p.Ala1208Ser) c.3556G>T (p.Ala1186Ser) c.2969G>T (n.2969G>T) c.3025G>T (p.Ala1009Ser) c.3625G>T (p.Ala1209Ser) c.3130G>T (p.Ala1044Ser) c.3643G>T (p.Ala1215Ser) c.3361G>T (p.Ala1121Ser) c.3505G>T (p.Ala1169Ser) c.3502G>T (p.Ala1168Ser) c.3364G>T (p.Ala1122Ser) c.3037G>T (p.Ala1013Ser) c.3034G>T (p.Ala1012Ser) c.3133G>T (p.Ala1045Ser) c.*3061G>T (n.*3061G>T) c.2106+182702G>T (n.2106+182702G>T) n.124G>T | |
3 | g.184327410C>A | CA355415339 | EIF2B5,EIF4G1 | c.3623C>A (p.Ala1208Asp) c.3557C>A (p.Ala1186Asp) c.2970C>A (n.2970C>A) c.3026C>A (p.Ala1009Asp) c.3626C>A (p.Ala1209Asp) c.3131C>A (p.Ala1044Asp) c.3644C>A (p.Ala1215Asp) c.3362C>A (p.Ala1121Asp) c.3506C>A (p.Ala1169Asp) c.3503C>A (p.Ala1168Asp) c.3365C>A (p.Ala1122Asp) c.3038C>A (p.Ala1013Asp) c.3035C>A (p.Ala1012Asp) c.3134C>A (p.Ala1045Asp) c.*3062C>A (n.*3062C>A) c.2106+182703C>A (n.2106+182703C>A) n.125C>A | |
3 | g.184327410C>G | CA355415341 | EIF2B5,EIF4G1 | c.3623C>G (p.Ala1208Gly) c.3557C>G (p.Ala1186Gly) c.2970C>G (n.2970C>G) c.3026C>G (p.Ala1009Gly) c.3626C>G (p.Ala1209Gly) c.3131C>G (p.Ala1044Gly) c.3644C>G (p.Ala1215Gly) c.3362C>G (p.Ala1121Gly) c.3506C>G (p.Ala1169Gly) c.3503C>G (p.Ala1168Gly) c.3365C>G (p.Ala1122Gly) c.3038C>G (p.Ala1013Gly) c.3035C>G (p.Ala1012Gly) c.3134C>G (p.Ala1045Gly) c.*3062C>G (n.*3062C>G) c.2106+182703C>G (n.2106+182703C>G) n.125C>G | |
3 | g.184327410C>T | CA355415344 | EIF2B5,EIF4G1 | c.3623C>T (p.Ala1208Val) c.3557C>T (p.Ala1186Val) c.2970C>T (n.2970C>T) c.3026C>T (p.Ala1009Val) c.3626C>T (p.Ala1209Val) c.3131C>T (p.Ala1044Val) c.3644C>T (p.Ala1215Val) c.3362C>T (p.Ala1121Val) c.3506C>T (p.Ala1169Val) c.3503C>T (p.Ala1168Val) c.3365C>T (p.Ala1122Val) c.3038C>T (p.Ala1013Val) c.3035C>T (p.Ala1012Val) c.3134C>T (p.Ala1045Val) c.*3062C>T (n.*3062C>T) c.2106+182703C>T (n.2106+182703C>T) n.125C>T | |
3 | g.184327411T>A | CA437330643 | EIF2B5,EIF4G1 | c.3624T>A (p.Ala1208=) c.3558T>A (p.Ala1186=) c.2971T>A (n.2971T>A) c.3027T>A (p.Ala1009=) c.3627T>A (p.Ala1209=) c.3132T>A (p.Ala1044=) c.3645T>A (p.Ala1215=) c.3363T>A (p.Ala1121=) c.3507T>A (p.Ala1169=) c.3504T>A (p.Ala1168=) c.3366T>A (p.Ala1122=) c.3039T>A (p.Ala1013=) c.3036T>A (p.Ala1012=) c.3135T>A (p.Ala1045=) c.*3063T>A (n.*3063T>A) c.2106+182704T>A (n.2106+182704T>A) n.126T>A | |
3 | g.184327411T>C | CA437330644 | EIF2B5,EIF4G1 | c.3624T>C (p.Ala1208=) c.3558T>C (p.Ala1186=) c.2971T>C (n.2971T>C) c.3027T>C (p.Ala1009=) c.3627T>C (p.Ala1209=) c.3132T>C (p.Ala1044=) c.3645T>C (p.Ala1215=) c.3363T>C (p.Ala1121=) c.3507T>C (p.Ala1169=) c.3504T>C (p.Ala1168=) c.3366T>C (p.Ala1122=) c.3039T>C (p.Ala1013=) c.3036T>C (p.Ala1012=) c.3135T>C (p.Ala1045=) c.*3063T>C (n.*3063T>C) c.2106+182704T>C (n.2106+182704T>C) n.126T>C | dbSNP gnomAD v4 |
3 | g.184327411T>G | CA437330645 | EIF2B5,EIF4G1 | c.3624T>G (p.Ala1208=) c.3558T>G (p.Ala1186=) c.2971T>G (n.2971T>G) c.3027T>G (p.Ala1009=) c.3627T>G (p.Ala1209=) c.3132T>G (p.Ala1044=) c.3645T>G (p.Ala1215=) c.3363T>G (p.Ala1121=) c.3507T>G (p.Ala1169=) c.3504T>G (p.Ala1168=) c.3366T>G (p.Ala1122=) c.3039T>G (p.Ala1013=) c.3036T>G (p.Ala1012=) c.3135T>G (p.Ala1045=) c.*3063T>G (n.*3063T>G) c.2106+182704T>G (n.2106+182704T>G) n.126T>G | |
3 | g.184327411T= | CA1425958418 | EIF2B5,EIF4G1 | c.3624T= (p.Ala1208=) c.3558T= (p.Ala1186=) c.2971T= (n.2971T=) c.3027T= (p.Ala1009=) c.3627T= (p.Ala1209=) c.3132T= (p.Ala1044=) c.3645T= (p.Ala1215=) c.3363T= (p.Ala1121=) c.3507T= (p.Ala1169=) c.3504T= (p.Ala1168=) c.3366T= (p.Ala1122=) c.3039T= (p.Ala1013=) c.3036T= (p.Ala1012=) c.3135T= (p.Ala1045=) c.*3063T= (n.*3063T=) c.2106+182704T= (n.2106+182704T=) n.126T= | |
3 | g.184327412A= | CA1425958424 | EIF2B5,EIF4G1 | c.3625A= (p.Ser1209=) c.3559A= (p.Ser1187=) c.2972A= (n.2972A=) c.3028A= (p.Ser1010=) c.3628A= (p.Ser1210=) c.3133A= (p.Ser1045=) c.3646A= (p.Ser1216=) c.3364A= (p.Ser1122=) c.3508A= (p.Ser1170=) c.3505A= (p.Ser1169=) c.3367A= (p.Ser1123=) c.3040A= (p.Ser1014=) c.3037A= (p.Ser1013=) c.3136A= (p.Ser1046=) c.*3064A= (n.*3064A=) c.2106+182705A= (n.2106+182705A=) n.127A= | |
3 | g.184327412A>C | CA355415347 | EIF2B5,EIF4G1 | c.3625A>C (p.Ser1209Arg) c.3559A>C (p.Ser1187Arg) c.2972A>C (n.2972A>C) c.3028A>C (p.Ser1010Arg) c.3628A>C (p.Ser1210Arg) c.3133A>C (p.Ser1045Arg) c.3646A>C (p.Ser1216Arg) c.3364A>C (p.Ser1122Arg) c.3508A>C (p.Ser1170Arg) c.3505A>C (p.Ser1169Arg) c.3367A>C (p.Ser1123Arg) c.3040A>C (p.Ser1014Arg) c.3037A>C (p.Ser1013Arg) c.3136A>C (p.Ser1046Arg) c.*3064A>C (n.*3064A>C) c.2106+182705A>C (n.2106+182705A>C) n.127A>C | |
3 | g.184327412A>G | CA355415351 | EIF2B5,EIF4G1 | c.3625A>G (p.Ser1209Gly) c.3559A>G (p.Ser1187Gly) c.2972A>G (n.2972A>G) c.3028A>G (p.Ser1010Gly) c.3628A>G (p.Ser1210Gly) c.3133A>G (p.Ser1045Gly) c.3646A>G (p.Ser1216Gly) c.3364A>G (p.Ser1122Gly) c.3508A>G (p.Ser1170Gly) c.3505A>G (p.Ser1169Gly) c.3367A>G (p.Ser1123Gly) c.3040A>G (p.Ser1014Gly) c.3037A>G (p.Ser1013Gly) c.3136A>G (p.Ser1046Gly) c.*3064A>G (n.*3064A>G) c.2106+182705A>G (n.2106+182705A>G) n.127A>G | dbSNP |
3 | g.184327412A>T | CA355415349 | EIF2B5,EIF4G1 | c.3625A>T (p.Ser1209Cys) c.3559A>T (p.Ser1187Cys) c.2972A>T (n.2972A>T) c.3028A>T (p.Ser1010Cys) c.3628A>T (p.Ser1210Cys) c.3133A>T (p.Ser1045Cys) c.3646A>T (p.Ser1216Cys) c.3364A>T (p.Ser1122Cys) c.3508A>T (p.Ser1170Cys) c.3505A>T (p.Ser1169Cys) c.3367A>T (p.Ser1123Cys) c.3040A>T (p.Ser1014Cys) c.3037A>T (p.Ser1013Cys) c.3136A>T (p.Ser1046Cys) c.*3064A>T (n.*3064A>T) c.2106+182705A>T (n.2106+182705A>T) n.127A>T | |
3 | g.184327413G>A | CA355415354 | EIF2B5,EIF4G1 | c.3626G>A (p.Ser1209Asn) c.3560G>A (p.Ser1187Asn) c.2973G>A (n.2973G>A) c.3029G>A (p.Ser1010Asn) c.3629G>A (p.Ser1210Asn) c.3134G>A (p.Ser1045Asn) c.3647G>A (p.Ser1216Asn) c.3365G>A (p.Ser1122Asn) c.3509G>A (p.Ser1170Asn) c.3506G>A (p.Ser1169Asn) c.3368G>A (p.Ser1123Asn) c.3041G>A (p.Ser1014Asn) c.3038G>A (p.Ser1013Asn) c.3137G>A (p.Ser1046Asn) c.*3065G>A (n.*3065G>A) c.2106+182706G>A (n.2106+182706G>A) n.128G>A | |
3 | g.184327413G>C | CA355415356 | EIF2B5,EIF4G1 | c.3626G>C (p.Ser1209Thr) c.3560G>C (p.Ser1187Thr) c.2973G>C (n.2973G>C) c.3029G>C (p.Ser1010Thr) c.3629G>C (p.Ser1210Thr) c.3134G>C (p.Ser1045Thr) c.3647G>C (p.Ser1216Thr) c.3365G>C (p.Ser1122Thr) c.3509G>C (p.Ser1170Thr) c.3506G>C (p.Ser1169Thr) c.3368G>C (p.Ser1123Thr) c.3041G>C (p.Ser1014Thr) c.3038G>C (p.Ser1013Thr) c.3137G>C (p.Ser1046Thr) c.*3065G>C (n.*3065G>C) c.2106+182706G>C (n.2106+182706G>C) n.128G>C | COSMIC |
3 | g.184327413G>T | CA355415358 | EIF2B5,EIF4G1 | c.3626G>T (p.Ser1209Ile) c.3560G>T (p.Ser1187Ile) c.2973G>T (n.2973G>T) c.3029G>T (p.Ser1010Ile) c.3629G>T (p.Ser1210Ile) c.3134G>T (p.Ser1045Ile) c.3647G>T (p.Ser1216Ile) c.3365G>T (p.Ser1122Ile) c.3509G>T (p.Ser1170Ile) c.3506G>T (p.Ser1169Ile) c.3368G>T (p.Ser1123Ile) c.3041G>T (p.Ser1014Ile) c.3038G>T (p.Ser1013Ile) c.3137G>T (p.Ser1046Ile) c.*3065G>T (n.*3065G>T) c.2106+182706G>T (n.2106+182706G>T) n.128G>T | |
3 | g.184327414C>A | CA355415361 | EIF2B5,EIF4G1 | c.3627C>A (p.Ser1209Arg) c.3561C>A (p.Ser1187Arg) c.2974C>A (n.2974C>A) c.3030C>A (p.Ser1010Arg) c.3630C>A (p.Ser1210Arg) c.3135C>A (p.Ser1045Arg) c.3648C>A (p.Ser1216Arg) c.3366C>A (p.Ser1122Arg) c.3510C>A (p.Ser1170Arg) c.3507C>A (p.Ser1169Arg) c.3369C>A (p.Ser1123Arg) c.3042C>A (p.Ser1014Arg) c.3039C>A (p.Ser1013Arg) c.3138C>A (p.Ser1046Arg) c.*3066C>A (n.*3066C>A) c.2106+182707C>A (n.2106+182707C>A) n.129C>A | |
3 | g.184327414C>G | CA355415362 | EIF2B5,EIF4G1 | c.3627C>G (p.Ser1209Arg) c.3561C>G (p.Ser1187Arg) c.2974C>G (n.2974C>G) c.3030C>G (p.Ser1010Arg) c.3630C>G (p.Ser1210Arg) c.3135C>G (p.Ser1045Arg) c.3648C>G (p.Ser1216Arg) c.3366C>G (p.Ser1122Arg) c.3510C>G (p.Ser1170Arg) c.3507C>G (p.Ser1169Arg) c.3369C>G (p.Ser1123Arg) c.3042C>G (p.Ser1014Arg) c.3039C>G (p.Ser1013Arg) c.3138C>G (p.Ser1046Arg) c.*3066C>G (n.*3066C>G) c.2106+182707C>G (n.2106+182707C>G) n.129C>G | |
3 | g.184327414C>T | CA437330654 | EIF2B5,EIF4G1 | c.3627C>T (p.Ser1209=) c.3561C>T (p.Ser1187=) c.2974C>T (n.2974C>T) c.3030C>T (p.Ser1010=) c.3630C>T (p.Ser1210=) c.3135C>T (p.Ser1045=) c.3648C>T (p.Ser1216=) c.3366C>T (p.Ser1122=) c.3510C>T (p.Ser1170=) c.3507C>T (p.Ser1169=) c.3369C>T (p.Ser1123=) c.3042C>T (p.Ser1014=) c.3039C>T (p.Ser1013=) c.3138C>T (p.Ser1046=) c.*3066C>T (n.*3066C>T) c.2106+182707C>T (n.2106+182707C>T) n.129C>T | |
3 | g.184327415C>A | CA355415365 | EIF2B5,EIF4G1 | c.3628C>A (p.Leu1210Ile) c.3562C>A (p.Leu1188Ile) c.2975C>A (n.2975C>A) c.3031C>A (p.Leu1011Ile) c.3631C>A (p.Leu1211Ile) c.3136C>A (p.Leu1046Ile) c.3649C>A (p.Leu1217Ile) c.3367C>A (p.Leu1123Ile) c.3511C>A (p.Leu1171Ile) c.3508C>A (p.Leu1170Ile) c.3370C>A (p.Leu1124Ile) c.3043C>A (p.Leu1015Ile) c.3040C>A (p.Leu1014Ile) c.3139C>A (p.Leu1047Ile) c.*3067C>A (n.*3067C>A) c.2106+182708C>A (n.2106+182708C>A) n.130C>A | |
3 | g.184327415C>G | CA355415367 | EIF2B5,EIF4G1 | c.3628C>G (p.Leu1210Val) c.3562C>G (p.Leu1188Val) c.2975C>G (n.2975C>G) c.3031C>G (p.Leu1011Val) c.3631C>G (p.Leu1211Val) c.3136C>G (p.Leu1046Val) c.3649C>G (p.Leu1217Val) c.3367C>G (p.Leu1123Val) c.3511C>G (p.Leu1171Val) c.3508C>G (p.Leu1170Val) c.3370C>G (p.Leu1124Val) c.3043C>G (p.Leu1015Val) c.3040C>G (p.Leu1014Val) c.3139C>G (p.Leu1047Val) c.*3067C>G (n.*3067C>G) c.2106+182708C>G (n.2106+182708C>G) n.130C>G | |
3 | g.184327415C>T | CA355415368 | EIF2B5,EIF4G1 | c.3628C>T (p.Leu1210Phe) c.3562C>T (p.Leu1188Phe) c.2975C>T (n.2975C>T) c.3031C>T (p.Leu1011Phe) c.3631C>T (p.Leu1211Phe) c.3136C>T (p.Leu1046Phe) c.3649C>T (p.Leu1217Phe) c.3367C>T (p.Leu1123Phe) c.3511C>T (p.Leu1171Phe) c.3508C>T (p.Leu1170Phe) c.3370C>T (p.Leu1124Phe) c.3043C>T (p.Leu1015Phe) c.3040C>T (p.Leu1014Phe) c.3139C>T (p.Leu1047Phe) c.*3067C>T (n.*3067C>T) c.2106+182708C>T (n.2106+182708C>T) n.130C>T | |
3 | g.184327416T>A | CA355415372 | EIF2B5,EIF4G1 | c.3629T>A (p.Leu1210His) c.3563T>A (p.Leu1188His) c.2976T>A (n.2976T>A) c.3032T>A (p.Leu1011His) c.3632T>A (p.Leu1211His) c.3137T>A (p.Leu1046His) c.3650T>A (p.Leu1217His) c.3368T>A (p.Leu1123His) c.3512T>A (p.Leu1171His) c.3509T>A (p.Leu1170His) c.3371T>A (p.Leu1124His) c.3044T>A (p.Leu1015His) c.3041T>A (p.Leu1014His) c.3140T>A (p.Leu1047His) c.*3068T>A (n.*3068T>A) c.2106+182709T>A (n.2106+182709T>A) n.131T>A | |
3 | g.184327416T>C | CA355415374 | EIF2B5,EIF4G1 | c.3629T>C (p.Leu1210Pro) c.3563T>C (p.Leu1188Pro) c.2976T>C (n.2976T>C) c.3032T>C (p.Leu1011Pro) c.3632T>C (p.Leu1211Pro) c.3137T>C (p.Leu1046Pro) c.3650T>C (p.Leu1217Pro) c.3368T>C (p.Leu1123Pro) c.3512T>C (p.Leu1171Pro) c.3509T>C (p.Leu1170Pro) c.3371T>C (p.Leu1124Pro) c.3044T>C (p.Leu1015Pro) c.3041T>C (p.Leu1014Pro) c.3140T>C (p.Leu1047Pro) c.*3068T>C (n.*3068T>C) c.2106+182709T>C (n.2106+182709T>C) n.131T>C | |
3 | g.184327416T>G | CA355415376 | EIF2B5,EIF4G1 | c.3629T>G (p.Leu1210Arg) c.3563T>G (p.Leu1188Arg) c.2976T>G (n.2976T>G) c.3032T>G (p.Leu1011Arg) c.3632T>G (p.Leu1211Arg) c.3137T>G (p.Leu1046Arg) c.3650T>G (p.Leu1217Arg) c.3368T>G (p.Leu1123Arg) c.3512T>G (p.Leu1171Arg) c.3509T>G (p.Leu1170Arg) c.3371T>G (p.Leu1124Arg) c.3044T>G (p.Leu1015Arg) c.3041T>G (p.Leu1014Arg) c.3140T>G (p.Leu1047Arg) c.*3068T>G (n.*3068T>G) c.2106+182709T>G (n.2106+182709T>G) n.131T>G | gnomAD v4 |
3 | g.184327417C>A | CA2732858 | EIF2B5,EIF4G1 | c.3630C>A (p.Leu1210=) c.3564C>A (p.Leu1188=) c.2977C>A (n.2977C>A) c.3033C>A (p.Leu1011=) c.3633C>A (p.Leu1211=) c.3138C>A (p.Leu1046=) c.3651C>A (p.Leu1217=) c.3369C>A (p.Leu1123=) c.3513C>A (p.Leu1171=) c.3510C>A (p.Leu1170=) c.3372C>A (p.Leu1124=) c.3045C>A (p.Leu1015=) c.3042C>A (p.Leu1014=) c.3141C>A (p.Leu1047=) c.*3069C>A (n.*3069C>A) c.2106+182710C>A (n.2106+182710C>A) n.132C>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.184327417C= | CA1425958426 | EIF2B5,EIF4G1 | c.3630C= (p.Leu1210=) c.3564C= (p.Leu1188=) c.2977C= (n.2977C=) c.3033C= (p.Leu1011=) c.3633C= (p.Leu1211=) c.3138C= (p.Leu1046=) c.3651C= (p.Leu1217=) c.3369C= (p.Leu1123=) c.3513C= (p.Leu1171=) c.3510C= (p.Leu1170=) c.3372C= (p.Leu1124=) c.3045C= (p.Leu1015=) c.3042C= (p.Leu1014=) c.3141C= (p.Leu1047=) c.*3069C= (n.*3069C=) c.2106+182710C= (n.2106+182710C=) n.132C= | |
3 | g.184327417C>G | CA437330658 | EIF2B5,EIF4G1 | c.3630C>G (p.Leu1210=) c.3564C>G (p.Leu1188=) c.2977C>G (n.2977C>G) c.3033C>G (p.Leu1011=) c.3633C>G (p.Leu1211=) c.3138C>G (p.Leu1046=) c.3651C>G (p.Leu1217=) c.3369C>G (p.Leu1123=) c.3513C>G (p.Leu1171=) c.3510C>G (p.Leu1170=) c.3372C>G (p.Leu1124=) c.3045C>G (p.Leu1015=) c.3042C>G (p.Leu1014=) c.3141C>G (p.Leu1047=) c.*3069C>G (n.*3069C>G) c.2106+182710C>G (n.2106+182710C>G) n.132C>G | |
3 | g.184327417C>T | CA437330657 | EIF2B5,EIF4G1 | c.3630C>T (p.Leu1210=) c.3564C>T (p.Leu1188=) c.2977C>T (n.2977C>T) c.3033C>T (p.Leu1011=) c.3633C>T (p.Leu1211=) c.3138C>T (p.Leu1046=) c.3651C>T (p.Leu1217=) c.3369C>T (p.Leu1123=) c.3513C>T (p.Leu1171=) c.3510C>T (p.Leu1170=) c.3372C>T (p.Leu1124=) c.3045C>T (p.Leu1015=) c.3042C>T (p.Leu1014=) c.3141C>T (p.Leu1047=) c.*3069C>T (n.*3069C>T) c.2106+182710C>T (n.2106+182710C>T) n.132C>T | gnomAD v4 |
3 | g.184327418A= | CA1425958429 | EIF2B5,EIF4G1 | c.3631A= (p.Thr1211=) c.3565A= (p.Thr1189=) c.2978A= (n.2978A=) c.3034A= (p.Thr1012=) c.3634A= (p.Thr1212=) c.3139A= (p.Thr1047=) c.3652A= (p.Thr1218=) c.3370A= (p.Thr1124=) c.3514A= (p.Thr1172=) c.3511A= (p.Thr1171=) c.3373A= (p.Thr1125=) c.3046A= (p.Thr1016=) c.3043A= (p.Thr1015=) c.3142A= (p.Thr1048=) c.*3070A= (n.*3070A=) c.2106+182711A= (n.2106+182711A=) n.133A= | |
3 | g.184327418A>C | CA355415391 | EIF2B5,EIF4G1 | c.3631A>C (p.Thr1211Pro) c.3565A>C (p.Thr1189Pro) c.2978A>C (n.2978A>C) c.3034A>C (p.Thr1012Pro) c.3634A>C (p.Thr1212Pro) c.3139A>C (p.Thr1047Pro) c.3652A>C (p.Thr1218Pro) c.3370A>C (p.Thr1124Pro) c.3514A>C (p.Thr1172Pro) c.3511A>C (p.Thr1171Pro) c.3373A>C (p.Thr1125Pro) c.3046A>C (p.Thr1016Pro) c.3043A>C (p.Thr1015Pro) c.3142A>C (p.Thr1048Pro) c.*3070A>C (n.*3070A>C) c.2106+182711A>C (n.2106+182711A>C) n.133A>C | |
3 | g.184327418A>G | CA88867674 | EIF2B5,EIF4G1 | c.3631A>G (p.Thr1211Ala) c.3565A>G (p.Thr1189Ala) c.2978A>G (n.2978A>G) c.3034A>G (p.Thr1012Ala) c.3634A>G (p.Thr1212Ala) c.3139A>G (p.Thr1047Ala) c.3652A>G (p.Thr1218Ala) c.3370A>G (p.Thr1124Ala) c.3514A>G (p.Thr1172Ala) c.3511A>G (p.Thr1171Ala) c.3373A>G (p.Thr1125Ala) c.3046A>G (p.Thr1016Ala) c.3043A>G (p.Thr1015Ala) c.3142A>G (p.Thr1048Ala) c.*3070A>G (n.*3070A>G) c.2106+182711A>G (n.2106+182711A>G) n.133A>G | dbSNP |
3 | g.184327418A>T | CA355415387 | EIF2B5,EIF4G1 | c.3631A>T (p.Thr1211Ser) c.3565A>T (p.Thr1189Ser) c.2978A>T (n.2978A>T) c.3034A>T (p.Thr1012Ser) c.3634A>T (p.Thr1212Ser) c.3139A>T (p.Thr1047Ser) c.3652A>T (p.Thr1218Ser) c.3370A>T (p.Thr1124Ser) c.3514A>T (p.Thr1172Ser) c.3511A>T (p.Thr1171Ser) c.3373A>T (p.Thr1125Ser) c.3046A>T (p.Thr1016Ser) c.3043A>T (p.Thr1015Ser) c.3142A>T (p.Thr1048Ser) c.*3070A>T (n.*3070A>T) c.2106+182711A>T (n.2106+182711A>T) n.133A>T | |
3 | g.184327419C>A | CA355415395 | EIF2B5,EIF4G1 | c.3632C>A (p.Thr1211Lys) c.3566C>A (p.Thr1189Lys) c.2979C>A (n.2979C>A) c.3035C>A (p.Thr1012Lys) c.3635C>A (p.Thr1212Lys) c.3140C>A (p.Thr1047Lys) c.3653C>A (p.Thr1218Lys) c.3371C>A (p.Thr1124Lys) c.3515C>A (p.Thr1172Lys) c.3512C>A (p.Thr1171Lys) c.3374C>A (p.Thr1125Lys) c.3047C>A (p.Thr1016Lys) c.3044C>A (p.Thr1015Lys) c.3143C>A (p.Thr1048Lys) c.*3071C>A (n.*3071C>A) c.2106+182712C>A (n.2106+182712C>A) n.134C>A | |
3 | g.184327419C= | CA1425958432 | EIF2B5,EIF4G1 | c.3632C= (p.Thr1211=) c.3566C= (p.Thr1189=) c.2979C= (n.2979C=) c.3035C= (p.Thr1012=) c.3635C= (p.Thr1212=) c.3140C= (p.Thr1047=) c.3653C= (p.Thr1218=) c.3371C= (p.Thr1124=) c.3515C= (p.Thr1172=) c.3512C= (p.Thr1171=) c.3374C= (p.Thr1125=) c.3047C= (p.Thr1016=) c.3044C= (p.Thr1015=) c.3143C= (p.Thr1048=) c.*3071C= (n.*3071C=) c.2106+182712C= (n.2106+182712C=) n.134C= | |
3 | g.184327419C>G | CA355415397 | EIF2B5,EIF4G1 | c.3632C>G (p.Thr1211Arg) c.3566C>G (p.Thr1189Arg) c.2979C>G (n.2979C>G) c.3035C>G (p.Thr1012Arg) c.3635C>G (p.Thr1212Arg) c.3140C>G (p.Thr1047Arg) c.3653C>G (p.Thr1218Arg) c.3371C>G (p.Thr1124Arg) c.3515C>G (p.Thr1172Arg) c.3512C>G (p.Thr1171Arg) c.3374C>G (p.Thr1125Arg) c.3047C>G (p.Thr1016Arg) c.3044C>G (p.Thr1015Arg) c.3143C>G (p.Thr1048Arg) c.*3071C>G (n.*3071C>G) c.2106+182712C>G (n.2106+182712C>G) n.134C>G | |
3 | g.184327419C>T | CA88867677 | EIF2B5,EIF4G1 | c.3632C>T (p.Thr1211Met) c.3566C>T (p.Thr1189Met) c.2979C>T (n.2979C>T) c.3035C>T (p.Thr1012Met) c.3635C>T (p.Thr1212Met) c.3140C>T (p.Thr1047Met) c.3653C>T (p.Thr1218Met) c.3371C>T (p.Thr1124Met) c.3515C>T (p.Thr1172Met) c.3512C>T (p.Thr1171Met) c.3374C>T (p.Thr1125Met) c.3047C>T (p.Thr1016Met) c.3044C>T (p.Thr1015Met) c.3143C>T (p.Thr1048Met) c.*3071C>T (n.*3071C>T) c.2106+182712C>T (n.2106+182712C>T) n.134C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.184327420G>A | CA2732859 | EIF2B5,EIF4G1 | c.3633G>A (p.Thr1211=) c.3567G>A (p.Thr1189=) c.2980G>A (n.2980G>A) c.3036G>A (p.Thr1012=) c.3636G>A (p.Thr1212=) c.3141G>A (p.Thr1047=) c.3654G>A (p.Thr1218=) c.3372G>A (p.Thr1124=) c.3516G>A (p.Thr1172=) c.3513G>A (p.Thr1171=) c.3375G>A (p.Thr1125=) c.3048G>A (p.Thr1016=) c.3045G>A (p.Thr1015=) c.3144G>A (p.Thr1048=) c.*3072G>A (n.*3072G>A) c.2106+182713G>A (n.2106+182713G>A) n.135G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
3 | g.184327420G>C | CA437330664 | EIF2B5,EIF4G1 | c.3633G>C (p.Thr1211=) c.3567G>C (p.Thr1189=) c.2980G>C (n.2980G>C) c.3036G>C (p.Thr1012=) c.3636G>C (p.Thr1212=) c.3141G>C (p.Thr1047=) c.3654G>C (p.Thr1218=) c.3372G>C (p.Thr1124=) c.3516G>C (p.Thr1172=) c.3513G>C (p.Thr1171=) c.3375G>C (p.Thr1125=) c.3048G>C (p.Thr1016=) c.3045G>C (p.Thr1015=) c.3144G>C (p.Thr1048=) c.*3072G>C (n.*3072G>C) c.2106+182713G>C (n.2106+182713G>C) n.135G>C | |
3 | g.184327420G= | CA1425958434 | EIF2B5,EIF4G1 | c.3633G= (p.Thr1211=) c.3567G= (p.Thr1189=) c.2980G= (n.2980G=) c.3036G= (p.Thr1012=) c.3636G= (p.Thr1212=) c.3141G= (p.Thr1047=) c.3654G= (p.Thr1218=) c.3372G= (p.Thr1124=) c.3516G= (p.Thr1172=) c.3513G= (p.Thr1171=) c.3375G= (p.Thr1125=) c.3048G= (p.Thr1016=) c.3045G= (p.Thr1015=) c.3144G= (p.Thr1048=) c.*3072G= (n.*3072G=) c.2106+182713G= (n.2106+182713G=) n.135G= | |
3 | g.184327420G>T | CA437330662 | EIF2B5,EIF4G1 | c.3633G>T (p.Thr1211=) c.3567G>T (p.Thr1189=) c.2980G>T (n.2980G>T) c.3036G>T (p.Thr1012=) c.3636G>T (p.Thr1212=) c.3141G>T (p.Thr1047=) c.3654G>T (p.Thr1218=) c.3372G>T (p.Thr1124=) c.3516G>T (p.Thr1172=) c.3513G>T (p.Thr1171=) c.3375G>T (p.Thr1125=) c.3048G>T (p.Thr1016=) c.3045G>T (p.Thr1015=) c.3144G>T (p.Thr1048=) c.*3072G>T (n.*3072G>T) c.2106+182713G>T (n.2106+182713G>T) n.135G>T | COSMIC |
3 | g.184327421G>A | CA355415404 | EIF2B5,EIF4G1 | c.3634G>A (p.Glu1212Lys) c.3568G>A (p.Glu1190Lys) c.2981G>A (n.2981G>A) c.3037G>A (p.Glu1013Lys) c.3637G>A (p.Glu1213Lys) c.3142G>A (p.Glu1048Lys) c.3655G>A (p.Glu1219Lys) c.3373G>A (p.Glu1125Lys) c.3517G>A (p.Glu1173Lys) c.3514G>A (p.Glu1172Lys) c.3376G>A (p.Glu1126Lys) c.3049G>A (p.Glu1017Lys) c.3046G>A (p.Glu1016Lys) c.3145G>A (p.Glu1049Lys) c.*3073G>A (n.*3073G>A) c.2106+182714G>A (n.2106+182714G>A) n.136G>A | dbSNP gnomAD v3 gnomAD v4 |
3 | g.184327421G>C | CA355415406 | EIF2B5,EIF4G1 | c.3634G>C (p.Glu1212Gln) c.3568G>C (p.Glu1190Gln) c.2981G>C (n.2981G>C) c.3037G>C (p.Glu1013Gln) c.3637G>C (p.Glu1213Gln) c.3142G>C (p.Glu1048Gln) c.3655G>C (p.Glu1219Gln) c.3373G>C (p.Glu1125Gln) c.3517G>C (p.Glu1173Gln) c.3514G>C (p.Glu1172Gln) c.3376G>C (p.Glu1126Gln) c.3049G>C (p.Glu1017Gln) c.3046G>C (p.Glu1016Gln) c.3145G>C (p.Glu1049Gln) c.*3073G>C (n.*3073G>C) c.2106+182714G>C (n.2106+182714G>C) n.136G>C | |
3 | g.184327421G= | CA1425958438 | EIF2B5,EIF4G1 | c.3634G= (p.Glu1212=) c.3568G= (p.Glu1190=) c.2981G= (n.2981G=) c.3037G= (p.Glu1013=) c.3637G= (p.Glu1213=) c.3142G= (p.Glu1048=) c.3655G= (p.Glu1219=) c.3373G= (p.Glu1125=) c.3517G= (p.Glu1173=) c.3514G= (p.Glu1172=) c.3376G= (p.Glu1126=) c.3049G= (p.Glu1017=) c.3046G= (p.Glu1016=) c.3145G= (p.Glu1049=) c.*3073G= (n.*3073G=) c.2106+182714G= (n.2106+182714G=) n.136G= | |
3 | g.184327421G>T | CA355415409 | EIF2B5,EIF4G1 | c.3634G>T (p.Glu1212Ter) c.3568G>T (p.Glu1190Ter) c.2981G>T (n.2981G>T) c.3037G>T (p.Glu1013Ter) c.3637G>T (p.Glu1213Ter) c.3142G>T (p.Glu1048Ter) c.3655G>T (p.Glu1219Ter) c.3373G>T (p.Glu1125Ter) c.3517G>T (p.Glu1173Ter) c.3514G>T (p.Glu1172Ter) c.3376G>T (p.Glu1126Ter) c.3049G>T (p.Glu1017Ter) c.3046G>T (p.Glu1016Ter) c.3145G>T (p.Glu1049Ter) c.*3073G>T (n.*3073G>T) c.2106+182714G>T (n.2106+182714G>T) n.136G>T | |
3 | g.184327422A>C | CA355415413 | EIF2B5,EIF4G1 | c.3635A>C (p.Glu1212Ala) c.3569A>C (p.Glu1190Ala) c.2982A>C (n.2982A>C) c.3038A>C (p.Glu1013Ala) c.3638A>C (p.Glu1213Ala) c.3143A>C (p.Glu1048Ala) c.3656A>C (p.Glu1219Ala) c.3374A>C (p.Glu1125Ala) c.3518A>C (p.Glu1173Ala) c.3515A>C (p.Glu1172Ala) c.3377A>C (p.Glu1126Ala) c.3050A>C (p.Glu1017Ala) c.3047A>C (p.Glu1016Ala) c.3146A>C (p.Glu1049Ala) c.*3074A>C (n.*3074A>C) c.2106+182715A>C (n.2106+182715A>C) n.137A>C | |
3 | g.184327422A>G | CA355415415 | EIF2B5,EIF4G1 | c.3635A>G (p.Glu1212Gly) c.3569A>G (p.Glu1190Gly) c.2982A>G (n.2982A>G) c.3038A>G (p.Glu1013Gly) c.3638A>G (p.Glu1213Gly) c.3143A>G (p.Glu1048Gly) c.3656A>G (p.Glu1219Gly) c.3374A>G (p.Glu1125Gly) c.3518A>G (p.Glu1173Gly) c.3515A>G (p.Glu1172Gly) c.3377A>G (p.Glu1126Gly) c.3050A>G (p.Glu1017Gly) c.3047A>G (p.Glu1016Gly) c.3146A>G (p.Glu1049Gly) c.*3074A>G (n.*3074A>G) c.2106+182715A>G (n.2106+182715A>G) n.137A>G | |
3 | g.184327422A>T | CA355415417 | EIF2B5,EIF4G1 | c.3635A>T (p.Glu1212Val) c.3569A>T (p.Glu1190Val) c.2982A>T (n.2982A>T) c.3038A>T (p.Glu1013Val) c.3638A>T (p.Glu1213Val) c.3143A>T (p.Glu1048Val) c.3656A>T (p.Glu1219Val) c.3374A>T (p.Glu1125Val) c.3518A>T (p.Glu1173Val) c.3515A>T (p.Glu1172Val) c.3377A>T (p.Glu1126Val) c.3050A>T (p.Glu1017Val) c.3047A>T (p.Glu1016Val) c.3146A>T (p.Glu1049Val) c.*3074A>T (n.*3074A>T) c.2106+182715A>T (n.2106+182715A>T) n.137A>T | |
3 | g.184327423G>A | CA437330669 | EIF2B5,EIF4G1 | c.3636G>A (p.Glu1212=) c.3570G>A (p.Glu1190=) c.2983G>A (n.2983G>A) c.3039G>A (p.Glu1013=) c.3639G>A (p.Glu1213=) c.3144G>A (p.Glu1048=) c.3657G>A (p.Glu1219=) c.3375G>A (p.Glu1125=) c.3519G>A (p.Glu1173=) c.3516G>A (p.Glu1172=) c.3378G>A (p.Glu1126=) c.3051G>A (p.Glu1017=) c.3048G>A (p.Glu1016=) c.3147G>A (p.Glu1049=) c.*3075G>A (n.*3075G>A) c.2106+182716G>A (n.2106+182716G>A) n.138G>A | |
3 | g.184327423G>C | CA355415421 | EIF2B5,EIF4G1 | c.3636G>C (p.Glu1212Asp) c.3570G>C (p.Glu1190Asp) c.2983G>C (n.2983G>C) c.3039G>C (p.Glu1013Asp) c.3639G>C (p.Glu1213Asp) c.3144G>C (p.Glu1048Asp) c.3657G>C (p.Glu1219Asp) c.3375G>C (p.Glu1125Asp) c.3519G>C (p.Glu1173Asp) c.3516G>C (p.Glu1172Asp) c.3378G>C (p.Glu1126Asp) c.3051G>C (p.Glu1017Asp) c.3048G>C (p.Glu1016Asp) c.3147G>C (p.Glu1049Asp) c.*3075G>C (n.*3075G>C) c.2106+182716G>C (n.2106+182716G>C) n.138G>C | |
3 | g.184327423G>T | CA355415423 | EIF2B5,EIF4G1 | c.3636G>T (p.Glu1212Asp) c.3570G>T (p.Glu1190Asp) c.2983G>T (n.2983G>T) c.3039G>T (p.Glu1013Asp) c.3639G>T (p.Glu1213Asp) c.3144G>T (p.Glu1048Asp) c.3657G>T (p.Glu1219Asp) c.3375G>T (p.Glu1125Asp) c.3519G>T (p.Glu1173Asp) c.3516G>T (p.Glu1172Asp) c.3378G>T (p.Glu1126Asp) c.3051G>T (p.Glu1017Asp) c.3048G>T (p.Glu1016Asp) c.3147G>T (p.Glu1049Asp) c.*3075G>T (n.*3075G>T) c.2106+182716G>T (n.2106+182716G>T) n.138G>T | |
3 | g.184327424G>A | CA355415427 | EIF2B5,EIF4G1 | c.3637G>A (p.Asp1213Asn) c.3571G>A (p.Asp1191Asn) c.2984G>A (n.2984G>A) c.3040G>A (p.Asp1014Asn) c.3640G>A (p.Asp1214Asn) c.3145G>A (p.Asp1049Asn) c.3658G>A (p.Asp1220Asn) c.3376G>A (p.Asp1126Asn) c.3520G>A (p.Asp1174Asn) c.3517G>A (p.Asp1173Asn) c.3379G>A (p.Asp1127Asn) c.3052G>A (p.Asp1018Asn) c.3049G>A (p.Asp1017Asn) c.3148G>A (p.Asp1050Asn) c.*3076G>A (n.*3076G>A) c.2106+182717G>A (n.2106+182717G>A) n.139G>A | gnomAD v4 |
3 | g.184327424G>C | CA355415432 | EIF2B5,EIF4G1 | c.3637G>C (p.Asp1213His) c.3571G>C (p.Asp1191His) c.2984G>C (n.2984G>C) c.3040G>C (p.Asp1014His) c.3640G>C (p.Asp1214His) c.3145G>C (p.Asp1049His) c.3658G>C (p.Asp1220His) c.3376G>C (p.Asp1126His) c.3520G>C (p.Asp1174His) c.3517G>C (p.Asp1173His) c.3379G>C (p.Asp1127His) c.3052G>C (p.Asp1018His) c.3049G>C (p.Asp1017His) c.3148G>C (p.Asp1050His) c.*3076G>C (n.*3076G>C) c.2106+182717G>C (n.2106+182717G>C) n.139G>C | |
3 | g.184327424G>T | CA355415430 | EIF2B5,EIF4G1 | c.3637G>T (p.Asp1213Tyr) c.3571G>T (p.Asp1191Tyr) c.2984G>T (n.2984G>T) c.3040G>T (p.Asp1014Tyr) c.3640G>T (p.Asp1214Tyr) c.3145G>T (p.Asp1049Tyr) c.3658G>T (p.Asp1220Tyr) c.3376G>T (p.Asp1126Tyr) c.3520G>T (p.Asp1174Tyr) c.3517G>T (p.Asp1173Tyr) c.3379G>T (p.Asp1127Tyr) c.3052G>T (p.Asp1018Tyr) c.3049G>T (p.Asp1017Tyr) c.3148G>T (p.Asp1050Tyr) c.*3076G>T (n.*3076G>T) c.2106+182717G>T (n.2106+182717G>T) n.139G>T | |
3 | g.184327425A>C | CA355415435 | EIF2B5,EIF4G1 | c.3638A>C (p.Asp1213Ala) c.3572A>C (p.Asp1191Ala) c.2985A>C (n.2985A>C) c.3041A>C (p.Asp1014Ala) c.3641A>C (p.Asp1214Ala) c.3146A>C (p.Asp1049Ala) c.3659A>C (p.Asp1220Ala) c.3377A>C (p.Asp1126Ala) c.3521A>C (p.Asp1174Ala) c.3518A>C (p.Asp1173Ala) c.3380A>C (p.Asp1127Ala) c.3053A>C (p.Asp1018Ala) c.3050A>C (p.Asp1017Ala) c.3149A>C (p.Asp1050Ala) c.*3077A>C (n.*3077A>C) c.2106+182718A>C (n.2106+182718A>C) n.140A>C | |
3 | g.184327425A>G | CA355415440 | EIF2B5,EIF4G1 | c.3638A>G (p.Asp1213Gly) c.3572A>G (p.Asp1191Gly) c.2985A>G (n.2985A>G) c.3041A>G (p.Asp1014Gly) c.3641A>G (p.Asp1214Gly) c.3146A>G (p.Asp1049Gly) c.3659A>G (p.Asp1220Gly) c.3377A>G (p.Asp1126Gly) c.3521A>G (p.Asp1174Gly) c.3518A>G (p.Asp1173Gly) c.3380A>G (p.Asp1127Gly) c.3053A>G (p.Asp1018Gly) c.3050A>G (p.Asp1017Gly) c.3149A>G (p.Asp1050Gly) c.*3077A>G (n.*3077A>G) c.2106+182718A>G (n.2106+182718A>G) n.140A>G | |
3 | g.184327425A>T | CA355415437 | EIF2B5,EIF4G1 | c.3638A>T (p.Asp1213Val) c.3572A>T (p.Asp1191Val) c.2985A>T (n.2985A>T) c.3041A>T (p.Asp1014Val) c.3641A>T (p.Asp1214Val) c.3146A>T (p.Asp1049Val) c.3659A>T (p.Asp1220Val) c.3377A>T (p.Asp1126Val) c.3521A>T (p.Asp1174Val) c.3518A>T (p.Asp1173Val) c.3380A>T (p.Asp1127Val) c.3053A>T (p.Asp1018Val) c.3050A>T (p.Asp1017Val) c.3149A>T (p.Asp1050Val) c.*3077A>T (n.*3077A>T) c.2106+182718A>T (n.2106+182718A>T) n.140A>T | |
3 | g.184327426T>A | CA355415445 | EIF2B5,EIF4G1 | c.3639T>A (p.Asp1213Glu) c.3573T>A (p.Asp1191Glu) c.2986T>A (n.2986T>A) c.3042T>A (p.Asp1014Glu) c.3642T>A (p.Asp1214Glu) c.3147T>A (p.Asp1049Glu) c.3660T>A (p.Asp1220Glu) c.3378T>A (p.Asp1126Glu) c.3522T>A (p.Asp1174Glu) c.3519T>A (p.Asp1173Glu) c.3381T>A (p.Asp1127Glu) c.3054T>A (p.Asp1018Glu) c.3051T>A (p.Asp1017Glu) c.3150T>A (p.Asp1050Glu) c.*3078T>A (n.*3078T>A) c.2106+182719T>A (n.2106+182719T>A) n.141T>A | |
3 | g.184327426T>C | CA437330677 | EIF2B5,EIF4G1 | c.3639T>C (p.Asp1213=) c.3573T>C (p.Asp1191=) c.2986T>C (n.2986T>C) c.3042T>C (p.Asp1014=) c.3642T>C (p.Asp1214=) c.3147T>C (p.Asp1049=) c.3660T>C (p.Asp1220=) c.3378T>C (p.Asp1126=) c.3522T>C (p.Asp1174=) c.3519T>C (p.Asp1173=) c.3381T>C (p.Asp1127=) c.3054T>C (p.Asp1018=) c.3051T>C (p.Asp1017=) c.3150T>C (p.Asp1050=) c.*3078T>C (n.*3078T>C) c.2106+182719T>C (n.2106+182719T>C) n.141T>C | |
3 | g.184327426T>G | CA355415446 | EIF2B5,EIF4G1 | c.3639T>G (p.Asp1213Glu) c.3573T>G (p.Asp1191Glu) c.2986T>G (n.2986T>G) c.3042T>G (p.Asp1014Glu) c.3642T>G (p.Asp1214Glu) c.3147T>G (p.Asp1049Glu) c.3660T>G (p.Asp1220Glu) c.3378T>G (p.Asp1126Glu) c.3522T>G (p.Asp1174Glu) c.3519T>G (p.Asp1173Glu) c.3381T>G (p.Asp1127Glu) c.3054T>G (p.Asp1018Glu) c.3051T>G (p.Asp1017Glu) c.3150T>G (p.Asp1050Glu) c.*3078T>G (n.*3078T>G) c.2106+182719T>G (n.2106+182719T>G) n.141T>G | |
3 | g.184327427C>A | CA437330680 | EIF2B5,EIF4G1 | c.3640C>A (p.Arg1214=) c.3574C>A (p.Arg1192=) c.2987C>A (n.2987C>A) c.3043C>A (p.Arg1015=) c.3643C>A (p.Arg1215=) c.3148C>A (p.Arg1050=) c.3661C>A (p.Arg1221=) c.3379C>A (p.Arg1127=) c.3523C>A (p.Arg1175=) c.3520C>A (p.Arg1174=) c.3382C>A (p.Arg1128=) c.3055C>A (p.Arg1019=) c.3052C>A (p.Arg1018=) c.3151C>A (p.Arg1051=) c.*3079C>A (n.*3079C>A) c.2106+182720C>A (n.2106+182720C>A) n.142C>A | dbSNP gnomAD v2 gnomAD v4 |
3 | g.184327427C= | CA1425958441 | EIF2B5,EIF4G1 | c.3640C= (p.Arg1214=) c.3574C= (p.Arg1192=) c.2987C= (n.2987C=) c.3043C= (p.Arg1015=) c.3643C= (p.Arg1215=) c.3148C= (p.Arg1050=) c.3661C= (p.Arg1221=) c.3379C= (p.Arg1127=) c.3523C= (p.Arg1175=) c.3520C= (p.Arg1174=) c.3382C= (p.Arg1128=) c.3055C= (p.Arg1019=) c.3052C= (p.Arg1018=) c.3151C= (p.Arg1051=) c.*3079C= (n.*3079C=) c.2106+182720C= (n.2106+182720C=) n.142C= | |
3 | g.184327427C>G | CA88867685 | EIF2B5,EIF4G1 | c.3640C>G (p.Arg1214Gly) c.3574C>G (p.Arg1192Gly) c.2987C>G (n.2987C>G) c.3043C>G (p.Arg1015Gly) c.3643C>G (p.Arg1215Gly) c.3148C>G (p.Arg1050Gly) c.3661C>G (p.Arg1221Gly) c.3379C>G (p.Arg1127Gly) c.3523C>G (p.Arg1175Gly) c.3520C>G (p.Arg1174Gly) c.3382C>G (p.Arg1128Gly) c.3055C>G (p.Arg1019Gly) c.3052C>G (p.Arg1018Gly) c.3151C>G (p.Arg1051Gly) c.*3079C>G (n.*3079C>G) c.2106+182720C>G (n.2106+182720C>G) n.142C>G | dbSNP gnomAD v3 gnomAD v4 |
3 | g.184327427C>T | CA88867684 | EIF2B5,EIF4G1 | c.3640C>T (p.Arg1214Trp) c.3574C>T (p.Arg1192Trp) c.2987C>T (n.2987C>T) c.3043C>T (p.Arg1015Trp) c.3643C>T (p.Arg1215Trp) c.3148C>T (p.Arg1050Trp) c.3661C>T (p.Arg1221Trp) c.3379C>T (p.Arg1127Trp) c.3523C>T (p.Arg1175Trp) c.3520C>T (p.Arg1174Trp) c.3382C>T (p.Arg1128Trp) c.3055C>T (p.Arg1019Trp) c.3052C>T (p.Arg1018Trp) c.3151C>T (p.Arg1051Trp) c.*3079C>T (n.*3079C>T) c.2106+182720C>T (n.2106+182720C>T) n.142C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
3 | g.184327428G>A | CA2732860 | EIF2B5,EIF4G1 | c.3641G>A (p.Arg1214Gln) c.3575G>A (p.Arg1192Gln) c.2988G>A (n.2988G>A) c.3044G>A (p.Arg1015Gln) c.3644G>A (p.Arg1215Gln) c.3149G>A (p.Arg1050Gln) c.3662G>A (p.Arg1221Gln) c.3380G>A (p.Arg1127Gln) c.3524G>A (p.Arg1175Gln) c.3521G>A (p.Arg1174Gln) c.3383G>A (p.Arg1128Gln) c.3056G>A (p.Arg1019Gln) c.3053G>A (p.Arg1018Gln) c.3152G>A (p.Arg1051Gln) c.*3080G>A (n.*3080G>A) c.2106+182721G>A (n.2106+182721G>A) n.143G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.184327428G>C | CA355415447 | EIF2B5,EIF4G1 | c.3641G>C (p.Arg1214Pro) c.3575G>C (p.Arg1192Pro) c.2988G>C (n.2988G>C) c.3044G>C (p.Arg1015Pro) c.3644G>C (p.Arg1215Pro) c.3149G>C (p.Arg1050Pro) c.3662G>C (p.Arg1221Pro) c.3380G>C (p.Arg1127Pro) c.3524G>C (p.Arg1175Pro) c.3521G>C (p.Arg1174Pro) c.3383G>C (p.Arg1128Pro) c.3056G>C (p.Arg1019Pro) c.3053G>C (p.Arg1018Pro) c.3152G>C (p.Arg1051Pro) c.*3080G>C (n.*3080G>C) c.2106+182721G>C (n.2106+182721G>C) n.143G>C | gnomAD v4 |
3 | g.184327428G= | CA1425958448 | EIF2B5,EIF4G1 | c.3641G= (p.Arg1214=) c.3575G= (p.Arg1192=) c.2988G= (n.2988G=) c.3044G= (p.Arg1015=) c.3644G= (p.Arg1215=) c.3149G= (p.Arg1050=) c.3662G= (p.Arg1221=) c.3380G= (p.Arg1127=) c.3524G= (p.Arg1175=) c.3521G= (p.Arg1174=) c.3383G= (p.Arg1128=) c.3056G= (p.Arg1019=) c.3053G= (p.Arg1018=) c.3152G= (p.Arg1051=) c.*3080G= (n.*3080G=) c.2106+182721G= (n.2106+182721G=) n.143G= | |
3 | g.184327428G>T | CA355415448 | EIF2B5,EIF4G1 | c.3641G>T (p.Arg1214Leu) c.3575G>T (p.Arg1192Leu) c.2988G>T (n.2988G>T) c.3044G>T (p.Arg1015Leu) c.3644G>T (p.Arg1215Leu) c.3149G>T (p.Arg1050Leu) c.3662G>T (p.Arg1221Leu) c.3380G>T (p.Arg1127Leu) c.3524G>T (p.Arg1175Leu) c.3521G>T (p.Arg1174Leu) c.3383G>T (p.Arg1128Leu) c.3056G>T (p.Arg1019Leu) c.3053G>T (p.Arg1018Leu) c.3152G>T (p.Arg1051Leu) c.*3080G>T (n.*3080G>T) c.2106+182721G>T (n.2106+182721G>T) n.143G>T | gnomAD v4 |
3 | g.184327430dup | CA917083379 | EIF2B5,EIF4G1 | c.3643dup (p.Asp1215GlyfsTer25) c.3577dup (p.Asp1193GlyfsTer25) c.2990dup (n.2990dup) c.3046dup (p.Asp1016GlyfsTer25) c.3646dup (p.Asp1216GlyfsTer25) c.3151dup (p.Asp1051GlyfsTer25) c.3664dup (p.Asp1222GlyfsTer25) c.3382dup (p.Asp1128GlyfsTer25) c.3526dup (p.Asp1176GlyfsTer25) c.3523dup (p.Asp1175GlyfsTer25) c.3385dup (p.Asp1129GlyfsTer25) c.3058dup (p.Asp1020GlyfsTer25) c.3055dup (p.Asp1019GlyfsTer25) c.3154dup (p.Asp1052GlyfsTer25) c.*3082dup (n.*3082dup) c.2106+182723dup (n.2106+182723dup) n.145dup | dbSNP |
3 | g.184327429G>A | CA437330683 | EIF2B5,EIF4G1 | c.3642G>A (p.Arg1214=) c.3576G>A (p.Arg1192=) c.2989G>A (n.2989G>A) c.3045G>A (p.Arg1015=) c.3645G>A (p.Arg1215=) c.3150G>A (p.Arg1050=) c.3663G>A (p.Arg1221=) c.3381G>A (p.Arg1127=) c.3525G>A (p.Arg1175=) c.3522G>A (p.Arg1174=) c.3384G>A (p.Arg1128=) c.3057G>A (p.Arg1019=) c.3054G>A (p.Arg1018=) c.3153G>A (p.Arg1051=) c.*3081G>A (n.*3081G>A) c.2106+182722G>A (n.2106+182722G>A) n.144G>A | |
3 | g.184327429G>C | CA437330684 | EIF2B5,EIF4G1 | c.3642G>C (p.Arg1214=) c.3576G>C (p.Arg1192=) c.2989G>C (n.2989G>C) c.3045G>C (p.Arg1015=) c.3645G>C (p.Arg1215=) c.3150G>C (p.Arg1050=) c.3663G>C (p.Arg1221=) c.3381G>C (p.Arg1127=) c.3525G>C (p.Arg1175=) c.3522G>C (p.Arg1174=) c.3384G>C (p.Arg1128=) c.3057G>C (p.Arg1019=) c.3054G>C (p.Arg1018=) c.3153G>C (p.Arg1051=) c.*3081G>C (n.*3081G>C) c.2106+182722G>C (n.2106+182722G>C) n.144G>C | gnomAD v4 |
3 | g.184327429G>T | CA437330685 | EIF2B5,EIF4G1 | c.3642G>T (p.Arg1214=) c.3576G>T (p.Arg1192=) c.2989G>T (n.2989G>T) c.3045G>T (p.Arg1015=) c.3645G>T (p.Arg1215=) c.3150G>T (p.Arg1050=) c.3663G>T (p.Arg1221=) c.3381G>T (p.Arg1127=) c.3525G>T (p.Arg1175=) c.3522G>T (p.Arg1174=) c.3384G>T (p.Arg1128=) c.3057G>T (p.Arg1019=) c.3054G>T (p.Arg1018=) c.3153G>T (p.Arg1051=) c.*3081G>T (n.*3081G>T) c.2106+182722G>T (n.2106+182722G>T) n.144G>T | |
3 | g.184327430G>A | CA355415449 | EIF2B5,EIF4G1 | c.3643G>A (p.Asp1215Asn) c.3577G>A (p.Asp1193Asn) c.2990G>A (n.2990G>A) c.3046G>A (p.Asp1016Asn) c.3646G>A (p.Asp1216Asn) c.3151G>A (p.Asp1051Asn) c.3664G>A (p.Asp1222Asn) c.3382G>A (p.Asp1128Asn) c.3526G>A (p.Asp1176Asn) c.3523G>A (p.Asp1175Asn) c.3385G>A (p.Asp1129Asn) c.3058G>A (p.Asp1020Asn) c.3055G>A (p.Asp1019Asn) c.3154G>A (p.Asp1052Asn) c.*3082G>A (n.*3082G>A) c.2106+182723G>A (n.2106+182723G>A) n.145G>A | dbSNP gnomAD v3 gnomAD v4 |
3 | g.184327430G>C | CA355415450 | EIF2B5,EIF4G1 | c.3643G>C (p.Asp1215His) c.3577G>C (p.Asp1193His) c.2990G>C (n.2990G>C) c.3046G>C (p.Asp1016His) c.3646G>C (p.Asp1216His) c.3151G>C (p.Asp1051His) c.3664G>C (p.Asp1222His) c.3382G>C (p.Asp1128His) c.3526G>C (p.Asp1176His) c.3523G>C (p.Asp1175His) c.3385G>C (p.Asp1129His) c.3058G>C (p.Asp1020His) c.3055G>C (p.Asp1019His) c.3154G>C (p.Asp1052His) c.*3082G>C (n.*3082G>C) c.2106+182723G>C (n.2106+182723G>C) n.145G>C | |
3 | g.184327430G= | CA1425958452 | EIF2B5,EIF4G1 | c.3643G= (p.Asp1215=) c.3577G= (p.Asp1193=) c.2990G= (n.2990G=) c.3046G= (p.Asp1016=) c.3646G= (p.Asp1216=) c.3151G= (p.Asp1051=) c.3664G= (p.Asp1222=) c.3382G= (p.Asp1128=) c.3526G= (p.Asp1176=) c.3523G= (p.Asp1175=) c.3385G= (p.Asp1129=) c.3058G= (p.Asp1020=) c.3055G= (p.Asp1019=) c.3154G= (p.Asp1052=) c.*3082G= (n.*3082G=) c.2106+182723G= (n.2106+182723G=) n.145G= | |
3 | g.184327430G>T | CA355415451 | EIF2B5,EIF4G1 | c.3643G>T (p.Asp1215Tyr) c.3577G>T (p.Asp1193Tyr) c.2990G>T (n.2990G>T) c.3046G>T (p.Asp1016Tyr) c.3646G>T (p.Asp1216Tyr) c.3151G>T (p.Asp1051Tyr) c.3664G>T (p.Asp1222Tyr) c.3382G>T (p.Asp1128Tyr) c.3526G>T (p.Asp1176Tyr) c.3523G>T (p.Asp1175Tyr) c.3385G>T (p.Asp1129Tyr) c.3058G>T (p.Asp1020Tyr) c.3055G>T (p.Asp1019Tyr) c.3154G>T (p.Asp1052Tyr) c.*3082G>T (n.*3082G>T) c.2106+182723G>T (n.2106+182723G>T) n.145G>T | gnomAD v4 |
3 | g.184327431A>C | CA355415452 | EIF2B5,EIF4G1 | c.3644A>C (p.Asp1215Ala) c.3578A>C (p.Asp1193Ala) c.2991A>C (n.2991A>C) c.3047A>C (p.Asp1016Ala) c.3647A>C (p.Asp1216Ala) c.3152A>C (p.Asp1051Ala) c.3665A>C (p.Asp1222Ala) c.3383A>C (p.Asp1128Ala) c.3527A>C (p.Asp1176Ala) c.3524A>C (p.Asp1175Ala) c.3386A>C (p.Asp1129Ala) c.3059A>C (p.Asp1020Ala) c.3056A>C (p.Asp1019Ala) c.3155A>C (p.Asp1052Ala) c.*3083A>C (n.*3083A>C) c.2106+182724A>C (n.2106+182724A>C) n.146A>C | |
3 | g.184327431A>G | CA355415453 | EIF2B5,EIF4G1 | c.3644A>G (p.Asp1215Gly) c.3578A>G (p.Asp1193Gly) c.2991A>G (n.2991A>G) c.3047A>G (p.Asp1016Gly) c.3647A>G (p.Asp1216Gly) c.3152A>G (p.Asp1051Gly) c.3665A>G (p.Asp1222Gly) c.3383A>G (p.Asp1128Gly) c.3527A>G (p.Asp1176Gly) c.3524A>G (p.Asp1175Gly) c.3386A>G (p.Asp1129Gly) c.3059A>G (p.Asp1020Gly) c.3056A>G (p.Asp1019Gly) c.3155A>G (p.Asp1052Gly) c.*3083A>G (n.*3083A>G) c.2106+182724A>G (n.2106+182724A>G) n.146A>G | |
3 | g.184327431A>T | CA355415454 | EIF2B5,EIF4G1 | c.3644A>T (p.Asp1215Val) c.3578A>T (p.Asp1193Val) c.2991A>T (n.2991A>T) c.3047A>T (p.Asp1016Val) c.3647A>T (p.Asp1216Val) c.3152A>T (p.Asp1051Val) c.3665A>T (p.Asp1222Val) c.3383A>T (p.Asp1128Val) c.3527A>T (p.Asp1176Val) c.3524A>T (p.Asp1175Val) c.3386A>T (p.Asp1129Val) c.3059A>T (p.Asp1020Val) c.3056A>T (p.Asp1019Val) c.3155A>T (p.Asp1052Val) c.*3083A>T (n.*3083A>T) c.2106+182724A>T (n.2106+182724A>T) n.146A>T | |
3 | g.184327432C>A | CA355415455 | EIF2B5,EIF4G1 | c.3645C>A (p.Asp1215Glu) c.3579C>A (p.Asp1193Glu) c.2992C>A (n.2992C>A) c.3048C>A (p.Asp1016Glu) c.3648C>A (p.Asp1216Glu) c.3153C>A (p.Asp1051Glu) c.3666C>A (p.Asp1222Glu) c.3384C>A (p.Asp1128Glu) c.3528C>A (p.Asp1176Glu) c.3525C>A (p.Asp1175Glu) c.3387C>A (p.Asp1129Glu) c.3060C>A (p.Asp1020Glu) c.3057C>A (p.Asp1019Glu) c.3156C>A (p.Asp1052Glu) c.*3084C>A (n.*3084C>A) c.2106+182725C>A (n.2106+182725C>A) n.147C>A | |
3 | g.184327432C>G | CA355415456 | EIF2B5,EIF4G1 | c.3645C>G (p.Asp1215Glu) c.3579C>G (p.Asp1193Glu) c.2992C>G (n.2992C>G) c.3048C>G (p.Asp1016Glu) c.3648C>G (p.Asp1216Glu) c.3153C>G (p.Asp1051Glu) c.3666C>G (p.Asp1222Glu) c.3384C>G (p.Asp1128Glu) c.3528C>G (p.Asp1176Glu) c.3525C>G (p.Asp1175Glu) c.3387C>G (p.Asp1129Glu) c.3060C>G (p.Asp1020Glu) c.3057C>G (p.Asp1019Glu) c.3156C>G (p.Asp1052Glu) c.*3084C>G (n.*3084C>G) c.2106+182725C>G (n.2106+182725C>G) n.147C>G | |
3 | g.184327432C>T | CA437330691 | EIF2B5,EIF4G1 | c.3645C>T (p.Asp1215=) c.3579C>T (p.Asp1193=) c.2992C>T (n.2992C>T) c.3048C>T (p.Asp1016=) c.3648C>T (p.Asp1216=) c.3153C>T (p.Asp1051=) c.3666C>T (p.Asp1222=) c.3384C>T (p.Asp1128=) c.3528C>T (p.Asp1176=) c.3525C>T (p.Asp1175=) c.3387C>T (p.Asp1129=) c.3060C>T (p.Asp1020=) c.3057C>T (p.Asp1019=) c.3156C>T (p.Asp1052=) c.*3084C>T (n.*3084C>T) c.2106+182725C>T (n.2106+182725C>T) n.147C>T | |
3 | g.184327433C>A | CA355415457 | EIF2B5,EIF4G1 | c.3646C>A (p.Arg1216Ser) c.3580C>A (p.Arg1194Ser) c.2993C>A (n.2993C>A) c.3049C>A (p.Arg1017Ser) c.3649C>A (p.Arg1217Ser) c.3154C>A (p.Arg1052Ser) c.3667C>A (p.Arg1223Ser) c.3385C>A (p.Arg1129Ser) c.3529C>A (p.Arg1177Ser) c.3526C>A (p.Arg1176Ser) c.3388C>A (p.Arg1130Ser) c.3061C>A (p.Arg1021Ser) c.3058C>A (p.Arg1020Ser) c.3157C>A (p.Arg1053Ser) c.*3085C>A (n.*3085C>A) c.2106+182726C>A (n.2106+182726C>A) n.148C>A | |
3 | g.184327433C= | CA1425958454 | EIF2B5,EIF4G1 | c.3646C= (p.Arg1216=) c.3580C= (p.Arg1194=) c.2993C= (n.2993C=) c.3049C= (p.Arg1017=) c.3649C= (p.Arg1217=) c.3154C= (p.Arg1052=) c.3667C= (p.Arg1223=) c.3385C= (p.Arg1129=) c.3529C= (p.Arg1177=) c.3526C= (p.Arg1176=) c.3388C= (p.Arg1130=) c.3061C= (p.Arg1021=) c.3058C= (p.Arg1020=) c.3157C= (p.Arg1053=) c.*3085C= (n.*3085C=) c.2106+182726C= (n.2106+182726C=) n.148C= | |
3 | g.184327433C>G | CA355415458 | EIF2B5,EIF4G1 | c.3646C>G (p.Arg1216Gly) c.3580C>G (p.Arg1194Gly) c.2993C>G (n.2993C>G) c.3049C>G (p.Arg1017Gly) c.3649C>G (p.Arg1217Gly) c.3154C>G (p.Arg1052Gly) c.3667C>G (p.Arg1223Gly) c.3385C>G (p.Arg1129Gly) c.3529C>G (p.Arg1177Gly) c.3526C>G (p.Arg1176Gly) c.3388C>G (p.Arg1130Gly) c.3061C>G (p.Arg1021Gly) c.3058C>G (p.Arg1020Gly) c.3157C>G (p.Arg1053Gly) c.*3085C>G (n.*3085C>G) c.2106+182726C>G (n.2106+182726C>G) n.148C>G | |
3 | g.184327433C>T | CA2732861 | EIF2B5,EIF4G1 | c.3646C>T (p.Arg1216Cys) c.3580C>T (p.Arg1194Cys) c.2993C>T (n.2993C>T) c.3049C>T (p.Arg1017Cys) c.3649C>T (p.Arg1217Cys) c.3154C>T (p.Arg1052Cys) c.3667C>T (p.Arg1223Cys) c.3385C>T (p.Arg1129Cys) c.3529C>T (p.Arg1177Cys) c.3526C>T (p.Arg1176Cys) c.3388C>T (p.Arg1130Cys) c.3061C>T (p.Arg1021Cys) c.3058C>T (p.Arg1020Cys) c.3157C>T (p.Arg1053Cys) c.*3085C>T (n.*3085C>T) c.2106+182726C>T (n.2106+182726C>T) n.148C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.184327434G>A | CA2732862 | EIF2B5,EIF4G1 | c.3647G>A (p.Arg1216His) c.3581G>A (p.Arg1194His) c.2994G>A (n.2994G>A) c.3050G>A (p.Arg1017His) c.3650G>A (p.Arg1217His) c.3155G>A (p.Arg1052His) c.3668G>A (p.Arg1223His) c.3386G>A (p.Arg1129His) c.3530G>A (p.Arg1177His) c.3527G>A (p.Arg1176His) c.3389G>A (p.Arg1130His) c.3062G>A (p.Arg1021His) c.3059G>A (p.Arg1020His) c.3158G>A (p.Arg1053His) c.*3086G>A (n.*3086G>A) c.2106+182727G>A (n.2106+182727G>A) n.149G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.184327434G>C | CA355415461 | EIF2B5,EIF4G1 | c.3647G>C (p.Arg1216Pro) c.3581G>C (p.Arg1194Pro) c.2994G>C (n.2994G>C) c.3050G>C (p.Arg1017Pro) c.3650G>C (p.Arg1217Pro) c.3155G>C (p.Arg1052Pro) c.3668G>C (p.Arg1223Pro) c.3386G>C (p.Arg1129Pro) c.3530G>C (p.Arg1177Pro) c.3527G>C (p.Arg1176Pro) c.3389G>C (p.Arg1130Pro) c.3062G>C (p.Arg1021Pro) c.3059G>C (p.Arg1020Pro) c.3158G>C (p.Arg1053Pro) c.*3086G>C (n.*3086G>C) c.2106+182727G>C (n.2106+182727G>C) n.149G>C | |
3 | g.184327434G= | CA1425958457 | EIF2B5,EIF4G1 | c.3647G= (p.Arg1216=) c.3581G= (p.Arg1194=) c.2994G= (n.2994G=) c.3050G= (p.Arg1017=) c.3650G= (p.Arg1217=) c.3155G= (p.Arg1052=) c.3668G= (p.Arg1223=) c.3386G= (p.Arg1129=) c.3530G= (p.Arg1177=) c.3527G= (p.Arg1176=) c.3389G= (p.Arg1130=) c.3062G= (p.Arg1021=) c.3059G= (p.Arg1020=) c.3158G= (p.Arg1053=) c.*3086G= (n.*3086G=) c.2106+182727G= (n.2106+182727G=) n.149G= | |
3 | g.184327434G>T | CA355415464 | EIF2B5,EIF4G1 | c.3647G>T (p.Arg1216Leu) c.3581G>T (p.Arg1194Leu) c.2994G>T (n.2994G>T) c.3050G>T (p.Arg1017Leu) c.3650G>T (p.Arg1217Leu) c.3155G>T (p.Arg1052Leu) c.3668G>T (p.Arg1223Leu) c.3386G>T (p.Arg1129Leu) c.3530G>T (p.Arg1177Leu) c.3527G>T (p.Arg1176Leu) c.3389G>T (p.Arg1130Leu) c.3062G>T (p.Arg1021Leu) c.3059G>T (p.Arg1020Leu) c.3158G>T (p.Arg1053Leu) c.*3086G>T (n.*3086G>T) c.2106+182727G>T (n.2106+182727G>T) n.149G>T | |
3 | g.184327435T>A | CA437330697 | EIF2B5,EIF4G1 | c.3648T>A (p.Arg1216=) c.3582T>A (p.Arg1194=) c.2995T>A (n.2995T>A) c.3051T>A (p.Arg1017=) c.3651T>A (p.Arg1217=) c.3156T>A (p.Arg1052=) c.3669T>A (p.Arg1223=) c.3387T>A (p.Arg1129=) c.3531T>A (p.Arg1177=) c.3528T>A (p.Arg1176=) c.3390T>A (p.Arg1130=) c.3063T>A (p.Arg1021=) c.3060T>A (p.Arg1020=) c.3159T>A (p.Arg1053=) c.*3087T>A (n.*3087T>A) c.2106+182728T>A (n.2106+182728T>A) n.150T>A | |
3 | g.184327435T>C | CA2732863 | EIF2B5,EIF4G1 | c.3648T>C (p.Arg1216=) c.3582T>C (p.Arg1194=) c.2995T>C (n.2995T>C) c.3051T>C (p.Arg1017=) c.3651T>C (p.Arg1217=) c.3156T>C (p.Arg1052=) c.3669T>C (p.Arg1223=) c.3387T>C (p.Arg1129=) c.3531T>C (p.Arg1177=) c.3528T>C (p.Arg1176=) c.3390T>C (p.Arg1130=) c.3063T>C (p.Arg1021=) c.3060T>C (p.Arg1020=) c.3159T>C (p.Arg1053=) c.*3087T>C (n.*3087T>C) c.2106+182728T>C (n.2106+182728T>C) n.150T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.184327435T>G | CA437330703 | EIF2B5,EIF4G1 | c.3648T>G (p.Arg1216=) c.3582T>G (p.Arg1194=) c.2995T>G (n.2995T>G) c.3051T>G (p.Arg1017=) c.3651T>G (p.Arg1217=) c.3156T>G (p.Arg1052=) c.3669T>G (p.Arg1223=) c.3387T>G (p.Arg1129=) c.3531T>G (p.Arg1177=) c.3528T>G (p.Arg1176=) c.3390T>G (p.Arg1130=) c.3063T>G (p.Arg1021=) c.3060T>G (p.Arg1020=) c.3159T>G (p.Arg1053=) c.*3087T>G (n.*3087T>G) c.2106+182728T>G (n.2106+182728T>G) n.150T>G | |
3 | g.184327435T= | CA1425958459 | EIF2B5,EIF4G1 | c.3648T= (p.Arg1216=) c.3582T= (p.Arg1194=) c.2995T= (n.2995T=) c.3051T= (p.Arg1017=) c.3651T= (p.Arg1217=) c.3156T= (p.Arg1052=) c.3669T= (p.Arg1223=) c.3387T= (p.Arg1129=) c.3531T= (p.Arg1177=) c.3528T= (p.Arg1176=) c.3390T= (p.Arg1130=) c.3063T= (p.Arg1021=) c.3060T= (p.Arg1020=) c.3159T= (p.Arg1053=) c.*3087T= (n.*3087T=) c.2106+182728T= (n.2106+182728T=) n.150T= | |
3 | g.184327436G>A | CA88867723 | EIF2B5,EIF4G1 | c.3649G>A (p.Gly1217Arg) c.3583G>A (p.Gly1195Arg) c.2996G>A (n.2996G>A) c.3052G>A (p.Gly1018Arg) c.3652G>A (p.Gly1218Arg) c.3157G>A (p.Gly1053Arg) c.3670G>A (p.Gly1224Arg) c.3388G>A (p.Gly1130Arg) c.3532G>A (p.Gly1178Arg) c.3529G>A (p.Gly1177Arg) c.3391G>A (p.Gly1131Arg) c.3064G>A (p.Gly1022Arg) c.3061G>A (p.Gly1021Arg) c.3160G>A (p.Gly1054Arg) c.*3088G>A (n.*3088G>A) c.2106+182729G>A (n.2106+182729G>A) n.151G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.184327436G>C | CA355415470 | EIF2B5,EIF4G1 | c.3649G>C (p.Gly1217Arg) c.3583G>C (p.Gly1195Arg) c.2996G>C (n.2996G>C) c.3052G>C (p.Gly1018Arg) c.3652G>C (p.Gly1218Arg) c.3157G>C (p.Gly1053Arg) c.3670G>C (p.Gly1224Arg) c.3388G>C (p.Gly1130Arg) c.3532G>C (p.Gly1178Arg) c.3529G>C (p.Gly1177Arg) c.3391G>C (p.Gly1131Arg) c.3064G>C (p.Gly1022Arg) c.3061G>C (p.Gly1021Arg) c.3160G>C (p.Gly1054Arg) c.*3088G>C (n.*3088G>C) c.2106+182729G>C (n.2106+182729G>C) n.151G>C | |
3 | g.184327436G= | CA1425958461 | EIF2B5,EIF4G1 | c.3649G= (p.Gly1217=) c.3583G= (p.Gly1195=) c.2996G= (n.2996G=) c.3052G= (p.Gly1018=) c.3652G= (p.Gly1218=) c.3157G= (p.Gly1053=) c.3670G= (p.Gly1224=) c.3388G= (p.Gly1130=) c.3532G= (p.Gly1178=) c.3529G= (p.Gly1177=) c.3391G= (p.Gly1131=) c.3064G= (p.Gly1022=) c.3061G= (p.Gly1021=) c.3160G= (p.Gly1054=) c.*3088G= (n.*3088G=) c.2106+182729G= (n.2106+182729G=) n.151G= | |
3 | g.184327436G>T | CA355415472 | EIF2B5,EIF4G1 | c.3649G>T (p.Gly1217Trp) c.3583G>T (p.Gly1195Trp) c.2996G>T (n.2996G>T) c.3052G>T (p.Gly1018Trp) c.3652G>T (p.Gly1218Trp) c.3157G>T (p.Gly1053Trp) c.3670G>T (p.Gly1224Trp) c.3388G>T (p.Gly1130Trp) c.3532G>T (p.Gly1178Trp) c.3529G>T (p.Gly1177Trp) c.3391G>T (p.Gly1131Trp) c.3064G>T (p.Gly1022Trp) c.3061G>T (p.Gly1021Trp) c.3160G>T (p.Gly1054Trp) c.*3088G>T (n.*3088G>T) c.2106+182729G>T (n.2106+182729G>T) n.151G>T | |
3 | g.184327437G>A | CA355415480 | EIF2B5,EIF4G1 | c.3650G>A (p.Gly1217Glu) c.3584G>A (p.Gly1195Glu) c.2997G>A (n.2997G>A) c.3053G>A (p.Gly1018Glu) c.3653G>A (p.Gly1218Glu) c.3158G>A (p.Gly1053Glu) c.3671G>A (p.Gly1224Glu) c.3389G>A (p.Gly1130Glu) c.3533G>A (p.Gly1178Glu) c.3530G>A (p.Gly1177Glu) c.3392G>A (p.Gly1131Glu) c.3065G>A (p.Gly1022Glu) c.3062G>A (p.Gly1021Glu) c.3161G>A (p.Gly1054Glu) c.*3089G>A (n.*3089G>A) c.2106+182730G>A (n.2106+182730G>A) n.152G>A | dbSNP gnomAD v2 gnomAD v4 |
3 | g.184327437G>C | CA355415478 | EIF2B5,EIF4G1 | c.3650G>C (p.Gly1217Ala) c.3584G>C (p.Gly1195Ala) c.2997G>C (n.2997G>C) c.3053G>C (p.Gly1018Ala) c.3653G>C (p.Gly1218Ala) c.3158G>C (p.Gly1053Ala) c.3671G>C (p.Gly1224Ala) c.3389G>C (p.Gly1130Ala) c.3533G>C (p.Gly1178Ala) c.3530G>C (p.Gly1177Ala) c.3392G>C (p.Gly1131Ala) c.3065G>C (p.Gly1022Ala) c.3062G>C (p.Gly1021Ala) c.3161G>C (p.Gly1054Ala) c.*3089G>C (n.*3089G>C) c.2106+182730G>C (n.2106+182730G>C) n.152G>C | |
3 | g.184327437G= | CA1425958463 | EIF2B5,EIF4G1 | c.3650G= (p.Gly1217=) c.3584G= (p.Gly1195=) c.2997G= (n.2997G=) c.3053G= (p.Gly1018=) c.3653G= (p.Gly1218=) c.3158G= (p.Gly1053=) c.3671G= (p.Gly1224=) c.3389G= (p.Gly1130=) c.3533G= (p.Gly1178=) c.3530G= (p.Gly1177=) c.3392G= (p.Gly1131=) c.3065G= (p.Gly1022=) c.3062G= (p.Gly1021=) c.3161G= (p.Gly1054=) c.*3089G= (n.*3089G=) c.2106+182730G= (n.2106+182730G=) n.152G= | |
3 | g.184327437G>T | CA355415476 | EIF2B5,EIF4G1 | c.3650G>T (p.Gly1217Val) c.3584G>T (p.Gly1195Val) c.2997G>T (n.2997G>T) c.3053G>T (p.Gly1018Val) c.3653G>T (p.Gly1218Val) c.3158G>T (p.Gly1053Val) c.3671G>T (p.Gly1224Val) c.3389G>T (p.Gly1130Val) c.3533G>T (p.Gly1178Val) c.3530G>T (p.Gly1177Val) c.3392G>T (p.Gly1131Val) c.3065G>T (p.Gly1022Val) c.3062G>T (p.Gly1021Val) c.3161G>T (p.Gly1054Val) c.*3089G>T (n.*3089G>T) c.2106+182730G>T (n.2106+182730G>T) n.152G>T | |
3 | g.184327438G>A | CA437330708 | EIF2B5,EIF4G1 | c.3651G>A (p.Gly1217=) c.3585G>A (p.Gly1195=) c.2998G>A (n.2998G>A) c.3054G>A (p.Gly1018=) c.3654G>A (p.Gly1218=) c.3159G>A (p.Gly1053=) c.3672G>A (p.Gly1224=) c.3390G>A (p.Gly1130=) c.3534G>A (p.Gly1178=) c.3531G>A (p.Gly1177=) c.3393G>A (p.Gly1131=) c.3066G>A (p.Gly1022=) c.3063G>A (p.Gly1021=) c.3162G>A (p.Gly1054=) c.*3090G>A (n.*3090G>A) c.2106+182731G>A (n.2106+182731G>A) n.153G>A | dbSNP gnomAD v2 gnomAD v4 |
3 | g.184327438G>C | CA437330706 | EIF2B5,EIF4G1 | c.3651G>C (p.Gly1217=) c.3585G>C (p.Gly1195=) c.2998G>C (n.2998G>C) c.3054G>C (p.Gly1018=) c.3654G>C (p.Gly1218=) c.3159G>C (p.Gly1053=) c.3672G>C (p.Gly1224=) c.3390G>C (p.Gly1130=) c.3534G>C (p.Gly1178=) c.3531G>C (p.Gly1177=) c.3393G>C (p.Gly1131=) c.3066G>C (p.Gly1022=) c.3063G>C (p.Gly1021=) c.3162G>C (p.Gly1054=) c.*3090G>C (n.*3090G>C) c.2106+182731G>C (n.2106+182731G>C) n.153G>C | |
3 | g.184327438G= | CA1425958465 | EIF2B5,EIF4G1 | c.3651G= (p.Gly1217=) c.3585G= (p.Gly1195=) c.2998G= (n.2998G=) c.3054G= (p.Gly1018=) c.3654G= (p.Gly1218=) c.3159G= (p.Gly1053=) c.3672G= (p.Gly1224=) c.3390G= (p.Gly1130=) c.3534G= (p.Gly1178=) c.3531G= (p.Gly1177=) c.3393G= (p.Gly1131=) c.3066G= (p.Gly1022=) c.3063G= (p.Gly1021=) c.3162G= (p.Gly1054=) c.*3090G= (n.*3090G=) c.2106+182731G= (n.2106+182731G=) n.153G= | |
3 | g.184327438G>T | CA437330705 | EIF2B5,EIF4G1 | c.3651G>T (p.Gly1217=) c.3585G>T (p.Gly1195=) c.2998G>T (n.2998G>T) c.3054G>T (p.Gly1018=) c.3654G>T (p.Gly1218=) c.3159G>T (p.Gly1053=) c.3672G>T (p.Gly1224=) c.3390G>T (p.Gly1130=) c.3534G>T (p.Gly1178=) c.3531G>T (p.Gly1177=) c.3393G>T (p.Gly1131=) c.3066G>T (p.Gly1022=) c.3063G>T (p.Gly1021=) c.3162G>T (p.Gly1054=) c.*3090G>T (n.*3090G>T) c.2106+182731G>T (n.2106+182731G>T) n.153G>T | |
3 | g.184327439C>A | CA437330710 | EIF2B5,EIF4G1 | c.3652C>A (p.Arg1218=) c.3586C>A (p.Arg1196=) c.2999C>A (n.2999C>A) c.3055C>A (p.Arg1019=) c.3655C>A (p.Arg1219=) c.3160C>A (p.Arg1054=) c.3673C>A (p.Arg1225=) c.3391C>A (p.Arg1131=) c.3535C>A (p.Arg1179=) c.3532C>A (p.Arg1178=) c.3394C>A (p.Arg1132=) c.3067C>A (p.Arg1023=) c.3064C>A (p.Arg1022=) c.3163C>A (p.Arg1055=) c.*3091C>A (n.*3091C>A) c.2106+182732C>A (n.2106+182732C>A) n.154C>A | gnomAD v4 |
3 | g.184327439C= | CA1425958469 | EIF2B5,EIF4G1 | c.3652C= (p.Arg1218=) c.3586C= (p.Arg1196=) c.2999C= (n.2999C=) c.3055C= (p.Arg1019=) c.3655C= (p.Arg1219=) c.3160C= (p.Arg1054=) c.3673C= (p.Arg1225=) c.3391C= (p.Arg1131=) c.3535C= (p.Arg1179=) c.3532C= (p.Arg1178=) c.3394C= (p.Arg1132=) c.3067C= (p.Arg1023=) c.3064C= (p.Arg1022=) c.3163C= (p.Arg1055=) c.*3091C= (n.*3091C=) c.2106+182732C= (n.2106+182732C=) n.154C= | |
3 | g.184327439C>G | CA355415482 | EIF2B5,EIF4G1 | c.3652C>G (p.Arg1218Gly) c.3586C>G (p.Arg1196Gly) c.2999C>G (n.2999C>G) c.3055C>G (p.Arg1019Gly) c.3655C>G (p.Arg1219Gly) c.3160C>G (p.Arg1054Gly) c.3673C>G (p.Arg1225Gly) c.3391C>G (p.Arg1131Gly) c.3535C>G (p.Arg1179Gly) c.3532C>G (p.Arg1178Gly) c.3394C>G (p.Arg1132Gly) c.3067C>G (p.Arg1023Gly) c.3064C>G (p.Arg1022Gly) c.3163C>G (p.Arg1055Gly) c.*3091C>G (n.*3091C>G) c.2106+182732C>G (n.2106+182732C>G) n.154C>G | |
3 | g.184327439C>T | CA2732864 | EIF2B5,EIF4G1 | c.3652C>T (p.Arg1218Trp) c.3586C>T (p.Arg1196Trp) c.2999C>T (n.2999C>T) c.3055C>T (p.Arg1019Trp) c.3655C>T (p.Arg1219Trp) c.3160C>T (p.Arg1054Trp) c.3673C>T (p.Arg1225Trp) c.3391C>T (p.Arg1131Trp) c.3535C>T (p.Arg1179Trp) c.3532C>T (p.Arg1178Trp) c.3394C>T (p.Arg1132Trp) c.3067C>T (p.Arg1023Trp) c.3064C>T (p.Arg1022Trp) c.3163C>T (p.Arg1055Trp) c.*3091C>T (n.*3091C>T) c.2106+182732C>T (n.2106+182732C>T) n.154C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
3 | g.184327440G>A | CA2732865 | EIF2B5,EIF4G1 | c.3653G>A (p.Arg1218Gln) c.3587G>A (p.Arg1196Gln) c.3000G>A (n.3000G>A) c.3056G>A (p.Arg1019Gln) c.3656G>A (p.Arg1219Gln) c.3161G>A (p.Arg1054Gln) c.3674G>A (p.Arg1225Gln) c.3392G>A (p.Arg1131Gln) c.3536G>A (p.Arg1179Gln) c.3533G>A (p.Arg1178Gln) c.3395G>A (p.Arg1132Gln) c.3068G>A (p.Arg1023Gln) c.3065G>A (p.Arg1022Gln) c.3164G>A (p.Arg1055Gln) c.*3092G>A (n.*3092G>A) c.2106+182733G>A (n.2106+182733G>A) n.155G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.184327440G>C | CA355415487 | EIF2B5,EIF4G1 | c.3653G>C (p.Arg1218Pro) c.3587G>C (p.Arg1196Pro) c.3000G>C (n.3000G>C) c.3056G>C (p.Arg1019Pro) c.3656G>C (p.Arg1219Pro) c.3161G>C (p.Arg1054Pro) c.3674G>C (p.Arg1225Pro) c.3392G>C (p.Arg1131Pro) c.3536G>C (p.Arg1179Pro) c.3533G>C (p.Arg1178Pro) c.3395G>C (p.Arg1132Pro) c.3068G>C (p.Arg1023Pro) c.3065G>C (p.Arg1022Pro) c.3164G>C (p.Arg1055Pro) c.*3092G>C (n.*3092G>C) c.2106+182733G>C (n.2106+182733G>C) n.155G>C | |
3 | g.184327440G= | CA1425958471 | EIF2B5,EIF4G1 | c.3653G= (p.Arg1218=) c.3587G= (p.Arg1196=) c.3000G= (n.3000G=) c.3056G= (p.Arg1019=) c.3656G= (p.Arg1219=) c.3161G= (p.Arg1054=) c.3674G= (p.Arg1225=) c.3392G= (p.Arg1131=) c.3536G= (p.Arg1179=) c.3533G= (p.Arg1178=) c.3395G= (p.Arg1132=) c.3068G= (p.Arg1023=) c.3065G= (p.Arg1022=) c.3164G= (p.Arg1055=) c.*3092G= (n.*3092G=) c.2106+182733G= (n.2106+182733G=) n.155G= | |
3 | g.184327440G>T | CA355415489 | EIF2B5,EIF4G1 | c.3653G>T (p.Arg1218Leu) c.3587G>T (p.Arg1196Leu) c.3000G>T (n.3000G>T) c.3056G>T (p.Arg1019Leu) c.3656G>T (p.Arg1219Leu) c.3161G>T (p.Arg1054Leu) c.3674G>T (p.Arg1225Leu) c.3392G>T (p.Arg1131Leu) c.3536G>T (p.Arg1179Leu) c.3533G>T (p.Arg1178Leu) c.3395G>T (p.Arg1132Leu) c.3068G>T (p.Arg1023Leu) c.3065G>T (p.Arg1022Leu) c.3164G>T (p.Arg1055Leu) c.*3092G>T (n.*3092G>T) c.2106+182733G>T (n.2106+182733G>T) n.155G>T | ClinVar gnomAD v4 |
3 | g.184327441G>A | CA2732866 | EIF2B5,EIF4G1 | c.3654G>A (p.Arg1218=) c.3588G>A (p.Arg1196=) c.3001G>A (n.3001G>A) c.3057G>A (p.Arg1019=) c.3657G>A (p.Arg1219=) c.3162G>A (p.Arg1054=) c.3675G>A (p.Arg1225=) c.3393G>A (p.Arg1131=) c.3537G>A (p.Arg1179=) c.3534G>A (p.Arg1178=) c.3396G>A (p.Arg1132=) c.3069G>A (p.Arg1023=) c.3066G>A (p.Arg1022=) c.3165G>A (p.Arg1055=) c.*3093G>A (n.*3093G>A) c.2106+182734G>A (n.2106+182734G>A) n.156G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.184327441G>C | CA437330715 | EIF2B5,EIF4G1 | c.3654G>C (p.Arg1218=) c.3588G>C (p.Arg1196=) c.3001G>C (n.3001G>C) c.3057G>C (p.Arg1019=) c.3657G>C (p.Arg1219=) c.3162G>C (p.Arg1054=) c.3675G>C (p.Arg1225=) c.3393G>C (p.Arg1131=) c.3537G>C (p.Arg1179=) c.3534G>C (p.Arg1178=) c.3396G>C (p.Arg1132=) c.3069G>C (p.Arg1023=) c.3066G>C (p.Arg1022=) c.3165G>C (p.Arg1055=) c.*3093G>C (n.*3093G>C) c.2106+182734G>C (n.2106+182734G>C) n.156G>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.184327441G= | CA1425958475 | EIF2B5,EIF4G1 | c.3654G= (p.Arg1218=) c.3588G= (p.Arg1196=) c.3001G= (n.3001G=) c.3057G= (p.Arg1019=) c.3657G= (p.Arg1219=) c.3162G= (p.Arg1054=) c.3675G= (p.Arg1225=) c.3393G= (p.Arg1131=) c.3537G= (p.Arg1179=) c.3534G= (p.Arg1178=) c.3396G= (p.Arg1132=) c.3069G= (p.Arg1023=) c.3066G= (p.Arg1022=) c.3165G= (p.Arg1055=) c.*3093G= (n.*3093G=) c.2106+182734G= (n.2106+182734G=) n.156G= | |
3 | g.184327441G>T | CA437330718 | EIF2B5,EIF4G1 | c.3654G>T (p.Arg1218=) c.3588G>T (p.Arg1196=) c.3001G>T (n.3001G>T) c.3057G>T (p.Arg1019=) c.3657G>T (p.Arg1219=) c.3162G>T (p.Arg1054=) c.3675G>T (p.Arg1225=) c.3393G>T (p.Arg1131=) c.3537G>T (p.Arg1179=) c.3534G>T (p.Arg1178=) c.3396G>T (p.Arg1132=) c.3069G>T (p.Arg1023=) c.3066G>T (p.Arg1022=) c.3165G>T (p.Arg1055=) c.*3093G>T (n.*3093G>T) c.2106+182734G>T (n.2106+182734G>T) n.156G>T | gnomAD v4 |
3 | g.184327442G>A | CA355415499 | EIF2B5,EIF4G1 | c.3655G>A (p.Asp1219Asn) c.3589G>A (p.Asp1197Asn) c.3002G>A (n.3002G>A) c.3058G>A (p.Asp1020Asn) c.3658G>A (p.Asp1220Asn) c.3163G>A (p.Asp1055Asn) c.3676G>A (p.Asp1226Asn) c.3394G>A (p.Asp1132Asn) c.3538G>A (p.Asp1180Asn) c.3535G>A (p.Asp1179Asn) c.3397G>A (p.Asp1133Asn) c.3070G>A (p.Asp1024Asn) c.3067G>A (p.Asp1023Asn) c.3166G>A (p.Asp1056Asn) c.*3094G>A (n.*3094G>A) c.2106+182735G>A (n.2106+182735G>A) n.157G>A | |
3 | g.184327442G>C | CA355415494 | EIF2B5,EIF4G1 | c.3655G>C (p.Asp1219His) c.3589G>C (p.Asp1197His) c.3002G>C (n.3002G>C) c.3058G>C (p.Asp1020His) c.3658G>C (p.Asp1220His) c.3163G>C (p.Asp1055His) c.3676G>C (p.Asp1226His) c.3394G>C (p.Asp1132His) c.3538G>C (p.Asp1180His) c.3535G>C (p.Asp1179His) c.3397G>C (p.Asp1133His) c.3070G>C (p.Asp1024His) c.3067G>C (p.Asp1023His) c.3166G>C (p.Asp1056His) c.*3094G>C (n.*3094G>C) c.2106+182735G>C (n.2106+182735G>C) n.157G>C | |
3 | g.184327442G>T | CA355415497 | EIF2B5,EIF4G1 | c.3655G>T (p.Asp1219Tyr) c.3589G>T (p.Asp1197Tyr) c.3002G>T (n.3002G>T) c.3058G>T (p.Asp1020Tyr) c.3658G>T (p.Asp1220Tyr) c.3163G>T (p.Asp1055Tyr) c.3676G>T (p.Asp1226Tyr) c.3394G>T (p.Asp1132Tyr) c.3538G>T (p.Asp1180Tyr) c.3535G>T (p.Asp1179Tyr) c.3397G>T (p.Asp1133Tyr) c.3070G>T (p.Asp1024Tyr) c.3067G>T (p.Asp1023Tyr) c.3166G>T (p.Asp1056Tyr) c.*3094G>T (n.*3094G>T) c.2106+182735G>T (n.2106+182735G>T) n.157G>T | |
3 | g.184327443A>C | CA355415502 | EIF2B5,EIF4G1 | c.3656A>C (p.Asp1219Ala) c.3590A>C (p.Asp1197Ala) c.3003A>C (n.3003A>C) c.3059A>C (p.Asp1020Ala) c.3659A>C (p.Asp1220Ala) c.3164A>C (p.Asp1055Ala) c.3677A>C (p.Asp1226Ala) c.3395A>C (p.Asp1132Ala) c.3539A>C (p.Asp1180Ala) c.3536A>C (p.Asp1179Ala) c.3398A>C (p.Asp1133Ala) c.3071A>C (p.Asp1024Ala) c.3068A>C (p.Asp1023Ala) c.3167A>C (p.Asp1056Ala) c.*3095A>C (n.*3095A>C) c.2106+182736A>C (n.2106+182736A>C) n.158A>C | |
3 | g.184327443A>G | CA355415505 | EIF2B5,EIF4G1 | c.3656A>G (p.Asp1219Gly) c.3590A>G (p.Asp1197Gly) c.3003A>G (n.3003A>G) c.3059A>G (p.Asp1020Gly) c.3659A>G (p.Asp1220Gly) c.3164A>G (p.Asp1055Gly) c.3677A>G (p.Asp1226Gly) c.3395A>G (p.Asp1132Gly) c.3539A>G (p.Asp1180Gly) c.3536A>G (p.Asp1179Gly) c.3398A>G (p.Asp1133Gly) c.3071A>G (p.Asp1024Gly) c.3068A>G (p.Asp1023Gly) c.3167A>G (p.Asp1056Gly) c.*3095A>G (n.*3095A>G) c.2106+182736A>G (n.2106+182736A>G) n.158A>G | |
3 | g.184327443A>T | CA355415507 | EIF2B5,EIF4G1 | c.3656A>T (p.Asp1219Val) c.3590A>T (p.Asp1197Val) c.3003A>T (n.3003A>T) c.3059A>T (p.Asp1020Val) c.3659A>T (p.Asp1220Val) c.3164A>T (p.Asp1055Val) c.3677A>T (p.Asp1226Val) c.3395A>T (p.Asp1132Val) c.3539A>T (p.Asp1180Val) c.3536A>T (p.Asp1179Val) c.3398A>T (p.Asp1133Val) c.3071A>T (p.Asp1024Val) c.3068A>T (p.Asp1023Val) c.3167A>T (p.Asp1056Val) c.*3095A>T (n.*3095A>T) c.2106+182736A>T (n.2106+182736A>T) n.158A>T | gnomAD v4 |
3 | g.184327444T>A | CA355415511 | EIF2B5,EIF4G1 | c.3657T>A (p.Asp1219Glu) c.3591T>A (p.Asp1197Glu) c.3004T>A (n.3004T>A) c.3060T>A (p.Asp1020Glu) c.3660T>A (p.Asp1220Glu) c.3165T>A (p.Asp1055Glu) c.3678T>A (p.Asp1226Glu) c.3396T>A (p.Asp1132Glu) c.3540T>A (p.Asp1180Glu) c.3537T>A (p.Asp1179Glu) c.3399T>A (p.Asp1133Glu) c.3072T>A (p.Asp1024Glu) c.3069T>A (p.Asp1023Glu) c.3168T>A (p.Asp1056Glu) c.*3096T>A (n.*3096T>A) c.2106+182737T>A (n.2106+182737T>A) n.159T>A | |
3 | g.184327444T>C | CA437330723 | EIF2B5,EIF4G1 | c.3657T>C (p.Asp1219=) c.3591T>C (p.Asp1197=) c.3004T>C (n.3004T>C) c.3060T>C (p.Asp1020=) c.3660T>C (p.Asp1220=) c.3165T>C (p.Asp1055=) c.3678T>C (p.Asp1226=) c.3396T>C (p.Asp1132=) c.3540T>C (p.Asp1180=) c.3537T>C (p.Asp1179=) c.3399T>C (p.Asp1133=) c.3072T>C (p.Asp1024=) c.3069T>C (p.Asp1023=) c.3168T>C (p.Asp1056=) c.*3096T>C (n.*3096T>C) c.2106+182737T>C (n.2106+182737T>C) n.159T>C | |
3 | g.184327444T>G | CA355415512 | EIF2B5,EIF4G1 | c.3657T>G (p.Asp1219Glu) c.3591T>G (p.Asp1197Glu) c.3004T>G (n.3004T>G) c.3060T>G (p.Asp1020Glu) c.3660T>G (p.Asp1220Glu) c.3165T>G (p.Asp1055Glu) c.3678T>G (p.Asp1226Glu) c.3396T>G (p.Asp1132Glu) c.3540T>G (p.Asp1180Glu) c.3537T>G (p.Asp1179Glu) c.3399T>G (p.Asp1133Glu) c.3072T>G (p.Asp1024Glu) c.3069T>G (p.Asp1023Glu) c.3168T>G (p.Asp1056Glu) c.*3096T>G (n.*3096T>G) c.2106+182737T>G (n.2106+182737T>G) n.159T>G | |
3 | g.184327445G>A | CA355415516 | EIF2B5,EIF4G1 | c.3658G>A (p.Ala1220Thr) c.3592G>A (p.Ala1198Thr) c.3005G>A (n.3005G>A) c.3061G>A (p.Ala1021Thr) c.3661G>A (p.Ala1221Thr) c.3166G>A (p.Ala1056Thr) c.3679G>A (p.Ala1227Thr) c.3397G>A (p.Ala1133Thr) c.3541G>A (p.Ala1181Thr) c.3538G>A (p.Ala1180Thr) c.3400G>A (p.Ala1134Thr) c.3073G>A (p.Ala1025Thr) c.3070G>A (p.Ala1024Thr) c.3169G>A (p.Ala1057Thr) c.*3097G>A (n.*3097G>A) c.2106+182738G>A (n.2106+182738G>A) n.160G>A | |
3 | g.184327445G>C | CA355415521 | EIF2B5,EIF4G1 | c.3658G>C (p.Ala1220Pro) c.3592G>C (p.Ala1198Pro) c.3005G>C (n.3005G>C) c.3061G>C (p.Ala1021Pro) c.3661G>C (p.Ala1221Pro) c.3166G>C (p.Ala1056Pro) c.3679G>C (p.Ala1227Pro) c.3397G>C (p.Ala1133Pro) c.3541G>C (p.Ala1181Pro) c.3538G>C (p.Ala1180Pro) c.3400G>C (p.Ala1134Pro) c.3073G>C (p.Ala1025Pro) c.3070G>C (p.Ala1024Pro) c.3169G>C (p.Ala1057Pro) c.*3097G>C (n.*3097G>C) c.2106+182738G>C (n.2106+182738G>C) n.160G>C | |
3 | g.184327445G>T | CA355415518 | EIF2B5,EIF4G1 | c.3658G>T (p.Ala1220Ser) c.3592G>T (p.Ala1198Ser) c.3005G>T (n.3005G>T) c.3061G>T (p.Ala1021Ser) c.3661G>T (p.Ala1221Ser) c.3166G>T (p.Ala1056Ser) c.3679G>T (p.Ala1227Ser) c.3397G>T (p.Ala1133Ser) c.3541G>T (p.Ala1181Ser) c.3538G>T (p.Ala1180Ser) c.3400G>T (p.Ala1134Ser) c.3073G>T (p.Ala1025Ser) c.3070G>T (p.Ala1024Ser) c.3169G>T (p.Ala1057Ser) c.*3097G>T (n.*3097G>T) c.2106+182738G>T (n.2106+182738G>T) n.160G>T | |
3 | g.184327446C>A | CA355415523 | EIF2B5,EIF4G1 | c.3659C>A (p.Ala1220Asp) c.3593C>A (p.Ala1198Asp) c.3006C>A (n.3006C>A) c.3062C>A (p.Ala1021Asp) c.3662C>A (p.Ala1221Asp) c.3167C>A (p.Ala1056Asp) c.3680C>A (p.Ala1227Asp) c.3398C>A (p.Ala1133Asp) c.3542C>A (p.Ala1181Asp) c.3539C>A (p.Ala1180Asp) c.3401C>A (p.Ala1134Asp) c.3074C>A (p.Ala1025Asp) c.3071C>A (p.Ala1024Asp) c.3170C>A (p.Ala1057Asp) c.*3098C>A (n.*3098C>A) c.2106+182739C>A (n.2106+182739C>A) n.161C>A | |
3 | g.184327446C= | CA1425958478 | EIF2B5,EIF4G1 | c.3659C= (p.Ala1220=) c.3593C= (p.Ala1198=) c.3006C= (n.3006C=) c.3062C= (p.Ala1021=) c.3662C= (p.Ala1221=) c.3167C= (p.Ala1056=) c.3680C= (p.Ala1227=) c.3398C= (p.Ala1133=) c.3542C= (p.Ala1181=) c.3539C= (p.Ala1180=) c.3401C= (p.Ala1134=) c.3074C= (p.Ala1025=) c.3071C= (p.Ala1024=) c.3170C= (p.Ala1057=) c.*3098C= (n.*3098C=) c.2106+182739C= (n.2106+182739C=) n.161C= | |
3 | g.184327446C>G | CA355415525 | EIF2B5,EIF4G1 | c.3659C>G (p.Ala1220Gly) c.3593C>G (p.Ala1198Gly) c.3006C>G (n.3006C>G) c.3062C>G (p.Ala1021Gly) c.3662C>G (p.Ala1221Gly) c.3167C>G (p.Ala1056Gly) c.3680C>G (p.Ala1227Gly) c.3398C>G (p.Ala1133Gly) c.3542C>G (p.Ala1181Gly) c.3539C>G (p.Ala1180Gly) c.3401C>G (p.Ala1134Gly) c.3074C>G (p.Ala1025Gly) c.3071C>G (p.Ala1024Gly) c.3170C>G (p.Ala1057Gly) c.*3098C>G (n.*3098C>G) c.2106+182739C>G (n.2106+182739C>G) n.161C>G | |
3 | g.184327446C>T | CA2732867 | EIF2B5,EIF4G1 | c.3659C>T (p.Ala1220Val) c.3593C>T (p.Ala1198Val) c.3006C>T (n.3006C>T) c.3062C>T (p.Ala1021Val) c.3662C>T (p.Ala1221Val) c.3167C>T (p.Ala1056Val) c.3680C>T (p.Ala1227Val) c.3398C>T (p.Ala1133Val) c.3542C>T (p.Ala1181Val) c.3539C>T (p.Ala1180Val) c.3401C>T (p.Ala1134Val) c.3074C>T (p.Ala1025Val) c.3071C>T (p.Ala1024Val) c.3170C>T (p.Ala1057Val) c.*3098C>T (n.*3098C>T) c.2106+182739C>T (n.2106+182739C>T) n.161C>T | dbSNP ExAC gnomAD v3 gnomAD v4 |
3 | g.184327447C>A | CA437330727 | EIF2B5,EIF4G1 | c.3660C>A (p.Ala1220=) c.3594C>A (p.Ala1198=) c.3007C>A (n.3007C>A) c.3063C>A (p.Ala1021=) c.3663C>A (p.Ala1221=) c.3168C>A (p.Ala1056=) c.3681C>A (p.Ala1227=) c.3399C>A (p.Ala1133=) c.3543C>A (p.Ala1181=) c.3540C>A (p.Ala1180=) c.3402C>A (p.Ala1134=) c.3075C>A (p.Ala1025=) c.3072C>A (p.Ala1024=) c.3171C>A (p.Ala1057=) c.*3099C>A (n.*3099C>A) c.2106+182740C>A (n.2106+182740C>A) n.162C>A | |
3 | g.184327447C= | CA1425958481 | EIF2B5,EIF4G1 | c.3660C= (p.Ala1220=) c.3594C= (p.Ala1198=) c.3007C= (n.3007C=) c.3063C= (p.Ala1021=) c.3663C= (p.Ala1221=) c.3168C= (p.Ala1056=) c.3681C= (p.Ala1227=) c.3399C= (p.Ala1133=) c.3543C= (p.Ala1181=) c.3540C= (p.Ala1180=) c.3402C= (p.Ala1134=) c.3075C= (p.Ala1025=) c.3072C= (p.Ala1024=) c.3171C= (p.Ala1057=) c.*3099C= (n.*3099C=) c.2106+182740C= (n.2106+182740C=) n.162C= | |
3 | g.184327447C>G | CA437330728 | EIF2B5,EIF4G1 | c.3660C>G (p.Ala1220=) c.3594C>G (p.Ala1198=) c.3007C>G (n.3007C>G) c.3063C>G (p.Ala1021=) c.3663C>G (p.Ala1221=) c.3168C>G (p.Ala1056=) c.3681C>G (p.Ala1227=) c.3399C>G (p.Ala1133=) c.3543C>G (p.Ala1181=) c.3540C>G (p.Ala1180=) c.3402C>G (p.Ala1134=) c.3075C>G (p.Ala1025=) c.3072C>G (p.Ala1024=) c.3171C>G (p.Ala1057=) c.*3099C>G (n.*3099C>G) c.2106+182740C>G (n.2106+182740C>G) n.162C>G | |
3 | g.184327447C>T | CA2732868 | EIF2B5,EIF4G1 | c.3660C>T (p.Ala1220=) c.3594C>T (p.Ala1198=) c.3007C>T (n.3007C>T) c.3063C>T (p.Ala1021=) c.3663C>T (p.Ala1221=) c.3168C>T (p.Ala1056=) c.3681C>T (p.Ala1227=) c.3399C>T (p.Ala1133=) c.3543C>T (p.Ala1181=) c.3540C>T (p.Ala1180=) c.3402C>T (p.Ala1134=) c.3075C>T (p.Ala1025=) c.3072C>T (p.Ala1024=) c.3171C>T (p.Ala1057=) c.*3099C>T (n.*3099C>T) c.2106+182740C>T (n.2106+182740C>T) n.162C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.184327448G>A | CA2732869 | EIF2B5,EIF4G1 | c.3661G>A (p.Val1221Met) c.3595G>A (p.Val1199Met) c.3008G>A (n.3008G>A) c.3064G>A (p.Val1022Met) c.3664G>A (p.Val1222Met) c.3169G>A (p.Val1057Met) c.3682G>A (p.Val1228Met) c.3400G>A (p.Val1134Met) c.3544G>A (p.Val1182Met) c.3541G>A (p.Val1181Met) c.3403G>A (p.Val1135Met) c.3076G>A (p.Val1026Met) c.3073G>A (p.Val1025Met) c.3172G>A (p.Val1058Met) c.*3100G>A (n.*3100G>A) c.2106+182741G>A (n.2106+182741G>A) n.163G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.184327448G>C | CA355415534 | EIF2B5,EIF4G1 | c.3661G>C (p.Val1221Leu) c.3595G>C (p.Val1199Leu) c.3008G>C (n.3008G>C) c.3064G>C (p.Val1022Leu) c.3664G>C (p.Val1222Leu) c.3169G>C (p.Val1057Leu) c.3682G>C (p.Val1228Leu) c.3400G>C (p.Val1134Leu) c.3544G>C (p.Val1182Leu) c.3541G>C (p.Val1181Leu) c.3403G>C (p.Val1135Leu) c.3076G>C (p.Val1026Leu) c.3073G>C (p.Val1025Leu) c.3172G>C (p.Val1058Leu) c.*3100G>C (n.*3100G>C) c.2106+182741G>C (n.2106+182741G>C) n.163G>C | |
3 | g.184327448G= | CA1425958483 | EIF2B5,EIF4G1 | c.3661G= (p.Val1221=) c.3595G= (p.Val1199=) c.3008G= (n.3008G=) c.3064G= (p.Val1022=) c.3664G= (p.Val1222=) c.3169G= (p.Val1057=) c.3682G= (p.Val1228=) c.3400G= (p.Val1134=) c.3544G= (p.Val1182=) c.3541G= (p.Val1181=) c.3403G= (p.Val1135=) c.3076G= (p.Val1026=) c.3073G= (p.Val1025=) c.3172G= (p.Val1058=) c.*3100G= (n.*3100G=) c.2106+182741G= (n.2106+182741G=) n.163G= | |
3 | g.184327448G>T | CA355415537 | EIF2B5,EIF4G1 | c.3661G>T (p.Val1221Leu) c.3595G>T (p.Val1199Leu) c.3008G>T (n.3008G>T) c.3064G>T (p.Val1022Leu) c.3664G>T (p.Val1222Leu) c.3169G>T (p.Val1057Leu) c.3682G>T (p.Val1228Leu) c.3400G>T (p.Val1134Leu) c.3544G>T (p.Val1182Leu) c.3541G>T (p.Val1181Leu) c.3403G>T (p.Val1135Leu) c.3076G>T (p.Val1026Leu) c.3073G>T (p.Val1025Leu) c.3172G>T (p.Val1058Leu) c.*3100G>T (n.*3100G>T) c.2106+182741G>T (n.2106+182741G>T) n.163G>T | |
3 | g.184327449G>A | CA355415542 | EIF2B5,EIF4G1 | c.3661+1G>A (n.3661+1G>A) c.3595+1G>A (n.3595+1G>A) c.3008+1G>A (n.3008+1G>A) c.3064+1G>A (n.3064+1G>A) c.3664+1G>A (n.3664+1G>A) c.3169+1G>A (n.3169+1G>A) c.3682+1G>A (n.3682+1G>A) c.3400+1G>A (n.3400+1G>A) c.3544+1G>A (n.3544+1G>A) c.3541+1G>A (n.3541+1G>A) c.3403+1G>A (n.3403+1G>A) c.3076+1G>A (n.3076+1G>A) c.3073+1G>A (n.3073+1G>A) c.3172+1G>A (n.3172+1G>A) c.*3100+1G>A (n.*3100+1G>A) c.2106+182742G>A (n.2106+182742G>A) n.163+1G>A | |
3 | g.184327449G>C | CA88867730 | EIF2B5,EIF4G1 | c.3661+1G>C (n.3661+1G>C) c.3595+1G>C (n.3595+1G>C) c.3008+1G>C (n.3008+1G>C) c.3064+1G>C (n.3064+1G>C) c.3664+1G>C (n.3664+1G>C) c.3169+1G>C (n.3169+1G>C) c.3682+1G>C (n.3682+1G>C) c.3400+1G>C (n.3400+1G>C) c.3544+1G>C (n.3544+1G>C) c.3541+1G>C (n.3541+1G>C) c.3403+1G>C (n.3403+1G>C) c.3076+1G>C (n.3076+1G>C) c.3073+1G>C (n.3073+1G>C) c.3172+1G>C (n.3172+1G>C) c.*3100+1G>C (n.*3100+1G>C) c.2106+182742G>C (n.2106+182742G>C) n.163+1G>C | dbSNP |
3 | g.184327449G= | CA1425958486 | EIF2B5,EIF4G1 | c.3661+1G= (n.3661+1G=) c.3595+1G= (n.3595+1G=) c.3008+1G= (n.3008+1G=) c.3064+1G= (n.3064+1G=) c.3664+1G= (n.3664+1G=) c.3169+1G= (n.3169+1G=) c.3682+1G= (n.3682+1G=) c.3400+1G= (n.3400+1G=) c.3544+1G= (n.3544+1G=) c.3541+1G= (n.3541+1G=) c.3403+1G= (n.3403+1G=) c.3076+1G= (n.3076+1G=) c.3073+1G= (n.3073+1G=) c.3172+1G= (n.3172+1G=) c.*3100+1G= (n.*3100+1G=) c.2106+182742G= (n.2106+182742G=) n.163+1G= | |
3 | g.184327449G>T | CA88867752 | EIF2B5,EIF4G1 | c.3661+1G>T (n.3661+1G>T) c.3595+1G>T (n.3595+1G>T) c.3008+1G>T (n.3008+1G>T) c.3064+1G>T (n.3064+1G>T) c.3664+1G>T (n.3664+1G>T) c.3169+1G>T (n.3169+1G>T) c.3682+1G>T (n.3682+1G>T) c.3400+1G>T (n.3400+1G>T) c.3544+1G>T (n.3544+1G>T) c.3541+1G>T (n.3541+1G>T) c.3403+1G>T (n.3403+1G>T) c.3076+1G>T (n.3076+1G>T) c.3073+1G>T (n.3073+1G>T) c.3172+1G>T (n.3172+1G>T) c.*3100+1G>T (n.*3100+1G>T) c.2106+182742G>T (n.2106+182742G>T) n.163+1G>T | dbSNP |
3 | g.184327450T>A | CA355415553 | EIF2B5,EIF4G1 | c.3661+2T>A (n.3661+2T>A) c.3595+2T>A (n.3595+2T>A) c.3008+2T>A (n.3008+2T>A) c.3064+2T>A (n.3064+2T>A) c.3664+2T>A (n.3664+2T>A) c.3169+2T>A (n.3169+2T>A) c.3682+2T>A (n.3682+2T>A) c.3400+2T>A (n.3400+2T>A) c.3544+2T>A (n.3544+2T>A) c.3541+2T>A (n.3541+2T>A) c.3403+2T>A (n.3403+2T>A) c.3076+2T>A (n.3076+2T>A) c.3073+2T>A (n.3073+2T>A) c.3172+2T>A (n.3172+2T>A) c.*3100+2T>A (n.*3100+2T>A) c.2106+182743T>A (n.2106+182743T>A) n.163+2T>A | |
3 | g.184327450T>C | CA355415551 | EIF2B5,EIF4G1 | c.3661+2T>C (n.3661+2T>C) c.3595+2T>C (n.3595+2T>C) c.3008+2T>C (n.3008+2T>C) c.3064+2T>C (n.3064+2T>C) c.3664+2T>C (n.3664+2T>C) c.3169+2T>C (n.3169+2T>C) c.3682+2T>C (n.3682+2T>C) c.3400+2T>C (n.3400+2T>C) c.3544+2T>C (n.3544+2T>C) c.3541+2T>C (n.3541+2T>C) c.3403+2T>C (n.3403+2T>C) c.3076+2T>C (n.3076+2T>C) c.3073+2T>C (n.3073+2T>C) c.3172+2T>C (n.3172+2T>C) c.*3100+2T>C (n.*3100+2T>C) c.2106+182743T>C (n.2106+182743T>C) n.163+2T>C | |
3 | g.184327450T>G | CA355415550 | EIF2B5,EIF4G1 | c.3661+2T>G (n.3661+2T>G) c.3595+2T>G (n.3595+2T>G) c.3008+2T>G (n.3008+2T>G) c.3064+2T>G (n.3064+2T>G) c.3664+2T>G (n.3664+2T>G) c.3169+2T>G (n.3169+2T>G) c.3682+2T>G (n.3682+2T>G) c.3400+2T>G (n.3400+2T>G) c.3544+2T>G (n.3544+2T>G) c.3541+2T>G (n.3541+2T>G) c.3403+2T>G (n.3403+2T>G) c.3076+2T>G (n.3076+2T>G) c.3073+2T>G (n.3073+2T>G) c.3172+2T>G (n.3172+2T>G) c.*3100+2T>G (n.*3100+2T>G) c.2106+182743T>G (n.2106+182743T>G) n.163+2T>G | |
3 | g.184327451G>A | CA645527395 | EIF2B5,EIF4G1 | c.3661+3G>A (n.3661+3G>A) c.3595+3G>A (n.3595+3G>A) c.3008+3G>A (n.3008+3G>A) c.3064+3G>A (n.3064+3G>A) c.3664+3G>A (n.3664+3G>A) c.3169+3G>A (n.3169+3G>A) c.3682+3G>A (n.3682+3G>A) c.3400+3G>A (n.3400+3G>A) c.3544+3G>A (n.3544+3G>A) c.3541+3G>A (n.3541+3G>A) c.3403+3G>A (n.3403+3G>A) c.3076+3G>A (n.3076+3G>A) c.3073+3G>A (n.3073+3G>A) c.3172+3G>A (n.3172+3G>A) c.*3100+3G>A (n.*3100+3G>A) c.2106+182744G>A (n.2106+182744G>A) n.163+3G>A | COSMIC |
3 | g.184327451G>T | CA2668840843 | EIF2B5,EIF4G1 | c.3661+3G>T (n.3661+3G>T) c.3595+3G>T (n.3595+3G>T) c.3008+3G>T (n.3008+3G>T) c.3064+3G>T (n.3064+3G>T) c.3664+3G>T (n.3664+3G>T) c.3169+3G>T (n.3169+3G>T) c.3682+3G>T (n.3682+3G>T) c.3400+3G>T (n.3400+3G>T) c.3544+3G>T (n.3544+3G>T) c.3541+3G>T (n.3541+3G>T) c.3403+3G>T (n.3403+3G>T) c.3076+3G>T (n.3076+3G>T) c.3073+3G>T (n.3073+3G>T) c.3172+3G>T (n.3172+3G>T) c.*3100+3G>T (n.*3100+3G>T) c.2106+182744G>T (n.2106+182744G>T) n.163+3G>T | gnomAD v4 |
3 | g.184327453G>A | CA548795616 | EIF2B5,EIF4G1 | c.3661+5G>A (n.3661+5G>A) c.3595+5G>A (n.3595+5G>A) c.3008+5G>A (n.3008+5G>A) c.3064+5G>A (n.3064+5G>A) c.3664+5G>A (n.3664+5G>A) c.3169+5G>A (n.3169+5G>A) c.3682+5G>A (n.3682+5G>A) c.3400+5G>A (n.3400+5G>A) c.3544+5G>A (n.3544+5G>A) c.3541+5G>A (n.3541+5G>A) c.3403+5G>A (n.3403+5G>A) c.3076+5G>A (n.3076+5G>A) c.3073+5G>A (n.3073+5G>A) c.3172+5G>A (n.3172+5G>A) c.*3100+5G>A (n.*3100+5G>A) c.2106+182746G>A (n.2106+182746G>A) n.163+5G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.184327453G= | CA1425958488 | EIF2B5,EIF4G1 | c.3661+5G= (n.3661+5G=) c.3595+5G= (n.3595+5G=) c.3008+5G= (n.3008+5G=) c.3064+5G= (n.3064+5G=) c.3664+5G= (n.3664+5G=) c.3169+5G= (n.3169+5G=) c.3682+5G= (n.3682+5G=) c.3400+5G= (n.3400+5G=) c.3544+5G= (n.3544+5G=) c.3541+5G= (n.3541+5G=) c.3403+5G= (n.3403+5G=) c.3076+5G= (n.3076+5G=) c.3073+5G= (n.3073+5G=) c.3172+5G= (n.3172+5G=) c.*3100+5G= (n.*3100+5G=) c.2106+182746G= (n.2106+182746G=) n.163+5G= | |
3 | g.184327456T>C | CA1425958491 | EIF2B5,EIF4G1 | c.3661+8T>C (n.3661+8T>C) c.3595+8T>C (n.3595+8T>C) c.3008+8T>C (n.3008+8T>C) c.3064+8T>C (n.3064+8T>C) c.3664+8T>C (n.3664+8T>C) c.3169+8T>C (n.3169+8T>C) c.3682+8T>C (n.3682+8T>C) c.3400+8T>C (n.3400+8T>C) c.3544+8T>C (n.3544+8T>C) c.3541+8T>C (n.3541+8T>C) c.3403+8T>C (n.3403+8T>C) c.3076+8T>C (n.3076+8T>C) c.3073+8T>C (n.3073+8T>C) c.3172+8T>C (n.3172+8T>C) c.*3100+8T>C (n.*3100+8T>C) c.2106+182749T>C (n.2106+182749T>C) n.163+8T>C | dbSNP |
3 | g.184327456T>G | CA1425958490 | EIF2B5,EIF4G1 | c.3661+8T>G (n.3661+8T>G) c.3595+8T>G (n.3595+8T>G) c.3008+8T>G (n.3008+8T>G) c.3064+8T>G (n.3064+8T>G) c.3664+8T>G (n.3664+8T>G) c.3169+8T>G (n.3169+8T>G) c.3682+8T>G (n.3682+8T>G) c.3400+8T>G (n.3400+8T>G) c.3544+8T>G (n.3544+8T>G) c.3541+8T>G (n.3541+8T>G) c.3403+8T>G (n.3403+8T>G) c.3076+8T>G (n.3076+8T>G) c.3073+8T>G (n.3073+8T>G) c.3172+8T>G (n.3172+8T>G) c.*3100+8T>G (n.*3100+8T>G) c.2106+182749T>G (n.2106+182749T>G) n.163+8T>G | dbSNP |
3 | g.184327456T= | CA1425958492 | EIF2B5,EIF4G1 | c.3661+8T= (n.3661+8T=) c.3595+8T= (n.3595+8T=) c.3008+8T= (n.3008+8T=) c.3064+8T= (n.3064+8T=) c.3664+8T= (n.3664+8T=) c.3169+8T= (n.3169+8T=) c.3682+8T= (n.3682+8T=) c.3400+8T= (n.3400+8T=) c.3544+8T= (n.3544+8T=) c.3541+8T= (n.3541+8T=) c.3403+8T= (n.3403+8T=) c.3076+8T= (n.3076+8T=) c.3073+8T= (n.3073+8T=) c.3172+8T= (n.3172+8T=) c.*3100+8T= (n.*3100+8T=) c.2106+182749T= (n.2106+182749T=) n.163+8T= | |
3 | g.184327459G= | CA1425958494 | EIF2B5,EIF4G1 | c.3661+11G= (n.3661+11G=) c.3595+11G= (n.3595+11G=) c.3008+11G= (n.3008+11G=) c.3064+11G= (n.3064+11G=) c.3664+11G= (n.3664+11G=) c.3169+11G= (n.3169+11G=) c.3682+11G= (n.3682+11G=) c.3400+11G= (n.3400+11G=) c.3544+11G= (n.3544+11G=) c.3541+11G= (n.3541+11G=) c.3403+11G= (n.3403+11G=) c.3076+11G= (n.3076+11G=) c.3073+11G= (n.3073+11G=) c.3172+11G= (n.3172+11G=) c.*3100+11G= (n.*3100+11G=) c.2106+182752G= (n.2106+182752G=) n.163+11G= | |
3 | g.184327463_184327467dup | CA548795617 | EIF2B5,EIF4G1 | c.3661+15_3661+19dup (n.3661+15_3661+19dup) c.3595+15_3595+19dup (n.3595+15_3595+19dup) c.3008+15_3008+19dup (n.3008+15_3008+19dup) c.3064+15_3064+19dup (n.3064+15_3064+19dup) c.3664+15_3664+19dup (n.3664+15_3664+19dup) c.3169+15_3169+19dup (n.3169+15_3169+19dup) c.3682+15_3682+19dup (n.3682+15_3682+19dup) c.3400+15_3400+19dup (n.3400+15_3400+19dup) c.3544+15_3544+19dup (n.3544+15_3544+19dup) c.3541+15_3541+19dup (n.3541+15_3541+19dup) c.3403+15_3403+19dup (n.3403+15_3403+19dup) c.3076+15_3076+19dup (n.3076+15_3076+19dup) c.3073+15_3073+19dup (n.3073+15_3073+19dup) c.3172+15_3172+19dup (n.3172+15_3172+19dup) c.*3100+15_*3100+19dup (n.*3100+15_*3100+19dup) c.2106+182756_2106+182760dup (n.2106+182756_2106+182760dup) n.163+15_163+19dup | dbSNP gnomAD v2 gnomAD v4 |
3 | g.184327461G>A | CA2732870 | EIF2B5,EIF4G1 | c.3661+13G>A (n.3661+13G>A) c.3595+13G>A (n.3595+13G>A) c.3008+13G>A (n.3008+13G>A) c.3064+13G>A (n.3064+13G>A) c.3664+13G>A (n.3664+13G>A) c.3169+13G>A (n.3169+13G>A) c.3682+13G>A (n.3682+13G>A) c.3400+13G>A (n.3400+13G>A) c.3544+13G>A (n.3544+13G>A) c.3541+13G>A (n.3541+13G>A) c.3403+13G>A (n.3403+13G>A) c.3076+13G>A (n.3076+13G>A) c.3073+13G>A (n.3073+13G>A) c.3172+13G>A (n.3172+13G>A) c.*3100+13G>A (n.*3100+13G>A) c.2106+182754G>A (n.2106+182754G>A) n.163+13G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.184327461G= | CA1425958496 | EIF2B5,EIF4G1 | c.3661+13G= (n.3661+13G=) c.3595+13G= (n.3595+13G=) c.3008+13G= (n.3008+13G=) c.3064+13G= (n.3064+13G=) c.3664+13G= (n.3664+13G=) c.3169+13G= (n.3169+13G=) c.3682+13G= (n.3682+13G=) c.3400+13G= (n.3400+13G=) c.3544+13G= (n.3544+13G=) c.3541+13G= (n.3541+13G=) c.3403+13G= (n.3403+13G=) c.3076+13G= (n.3076+13G=) c.3073+13G= (n.3073+13G=) c.3172+13G= (n.3172+13G=) c.*3100+13G= (n.*3100+13G=) c.2106+182754G= (n.2106+182754G=) n.163+13G= | |
3 | g.184327461G>T | CA2577978170 | EIF2B5,EIF4G1 | c.3661+13G>T (n.3661+13G>T) c.3595+13G>T (n.3595+13G>T) c.3008+13G>T (n.3008+13G>T) c.3064+13G>T (n.3064+13G>T) c.3664+13G>T (n.3664+13G>T) c.3169+13G>T (n.3169+13G>T) c.3682+13G>T (n.3682+13G>T) c.3400+13G>T (n.3400+13G>T) c.3544+13G>T (n.3544+13G>T) c.3541+13G>T (n.3541+13G>T) c.3403+13G>T (n.3403+13G>T) c.3076+13G>T (n.3076+13G>T) c.3073+13G>T (n.3073+13G>T) c.3172+13G>T (n.3172+13G>T) c.*3100+13G>T (n.*3100+13G>T) c.2106+182754G>T (n.2106+182754G>T) n.163+13G>T | |
3 | g.184327462A= | CA1425958498 | EIF2B5,EIF4G1 | c.3661+14A= (n.3661+14A=) c.3595+14A= (n.3595+14A=) c.3008+14A= (n.3008+14A=) c.3064+14A= (n.3064+14A=) c.3664+14A= (n.3664+14A=) c.3169+14A= (n.3169+14A=) c.3682+14A= (n.3682+14A=) c.3400+14A= (n.3400+14A=) c.3544+14A= (n.3544+14A=) c.3541+14A= (n.3541+14A=) c.3403+14A= (n.3403+14A=) c.3076+14A= (n.3076+14A=) c.3073+14A= (n.3073+14A=) c.3172+14A= (n.3172+14A=) c.*3100+14A= (n.*3100+14A=) c.2106+182755A= (n.2106+182755A=) n.163+14A= | |
3 | g.184327462A>C | CA2668840851 | EIF2B5,EIF4G1 | c.3661+14A>C (n.3661+14A>C) c.3595+14A>C (n.3595+14A>C) c.3008+14A>C (n.3008+14A>C) c.3064+14A>C (n.3064+14A>C) c.3664+14A>C (n.3664+14A>C) c.3169+14A>C (n.3169+14A>C) c.3682+14A>C (n.3682+14A>C) c.3400+14A>C (n.3400+14A>C) c.3544+14A>C (n.3544+14A>C) c.3541+14A>C (n.3541+14A>C) c.3403+14A>C (n.3403+14A>C) c.3076+14A>C (n.3076+14A>C) c.3073+14A>C (n.3073+14A>C) c.3172+14A>C (n.3172+14A>C) c.*3100+14A>C (n.*3100+14A>C) c.2106+182755A>C (n.2106+182755A>C) n.163+14A>C | gnomAD v4 |
3 | g.184327462A>G | CA1425958499 | EIF2B5,EIF4G1 | c.3661+14A>G (n.3661+14A>G) c.3595+14A>G (n.3595+14A>G) c.3008+14A>G (n.3008+14A>G) c.3064+14A>G (n.3064+14A>G) c.3664+14A>G (n.3664+14A>G) c.3169+14A>G (n.3169+14A>G) c.3682+14A>G (n.3682+14A>G) c.3400+14A>G (n.3400+14A>G) c.3544+14A>G (n.3544+14A>G) c.3541+14A>G (n.3541+14A>G) c.3403+14A>G (n.3403+14A>G) c.3076+14A>G (n.3076+14A>G) c.3073+14A>G (n.3073+14A>G) c.3172+14A>G (n.3172+14A>G) c.*3100+14A>G (n.*3100+14A>G) c.2106+182755A>G (n.2106+182755A>G) n.163+14A>G | dbSNP |
3 | g.184327465G>A | CA2668840854 | EIF2B5,EIF4G1 | c.3661+17G>A (n.3661+17G>A) c.3595+17G>A (n.3595+17G>A) c.3008+17G>A (n.3008+17G>A) c.3064+17G>A (n.3064+17G>A) c.3664+17G>A (n.3664+17G>A) c.3169+17G>A (n.3169+17G>A) c.3682+17G>A (n.3682+17G>A) c.3400+17G>A (n.3400+17G>A) c.3544+17G>A (n.3544+17G>A) c.3541+17G>A (n.3541+17G>A) c.3403+17G>A (n.3403+17G>A) c.3076+17G>A (n.3076+17G>A) c.3073+17G>A (n.3073+17G>A) c.3172+17G>A (n.3172+17G>A) c.*3100+17G>A (n.*3100+17G>A) c.2106+182758G>A (n.2106+182758G>A) n.163+17G>A | gnomAD v4 |
3 | g.184327466G>A | CA1425958502 | EIF2B5,EIF4G1 | c.3661+18G>A (n.3661+18G>A) c.3595+18G>A (n.3595+18G>A) c.3008+18G>A (n.3008+18G>A) c.3064+18G>A (n.3064+18G>A) c.3664+18G>A (n.3664+18G>A) c.3169+18G>A (n.3169+18G>A) c.3682+18G>A (n.3682+18G>A) c.3400+18G>A (n.3400+18G>A) c.3544+18G>A (n.3544+18G>A) c.3541+18G>A (n.3541+18G>A) c.3403+18G>A (n.3403+18G>A) c.3076+18G>A (n.3076+18G>A) c.3073+18G>A (n.3073+18G>A) c.3172+18G>A (n.3172+18G>A) c.*3100+18G>A (n.*3100+18G>A) c.2106+182759G>A (n.2106+182759G>A) n.163+18G>A | dbSNP |
3 | g.184327466G= | CA1425958500 | EIF2B5,EIF4G1 | c.3661+18G= (n.3661+18G=) c.3595+18G= (n.3595+18G=) c.3008+18G= (n.3008+18G=) c.3064+18G= (n.3064+18G=) c.3664+18G= (n.3664+18G=) c.3169+18G= (n.3169+18G=) c.3682+18G= (n.3682+18G=) c.3400+18G= (n.3400+18G=) c.3544+18G= (n.3544+18G=) c.3541+18G= (n.3541+18G=) c.3403+18G= (n.3403+18G=) c.3076+18G= (n.3076+18G=) c.3073+18G= (n.3073+18G=) c.3172+18G= (n.3172+18G=) c.*3100+18G= (n.*3100+18G=) c.2106+182759G= (n.2106+182759G=) n.163+18G= | |
3 | g.184327468A= | CA1425958503 | EIF2B5,EIF4G1 | c.3661+20A= (n.3661+20A=) c.3595+20A= (n.3595+20A=) c.3008+20A= (n.3008+20A=) c.3064+20A= (n.3064+20A=) c.3664+20A= (n.3664+20A=) c.3169+20A= (n.3169+20A=) c.3682+20A= (n.3682+20A=) c.3400+20A= (n.3400+20A=) c.3544+20A= (n.3544+20A=) c.3541+20A= (n.3541+20A=) c.3403+20A= (n.3403+20A=) c.3076+20A= (n.3076+20A=) c.3073+20A= (n.3073+20A=) c.3172+20A= (n.3172+20A=) c.*3100+20A= (n.*3100+20A=) c.2106+182761A= (n.2106+182761A=) n.163+20A= | |
3 | g.184327468A>G | CA548795618 | EIF2B5,EIF4G1 | c.3661+20A>G (n.3661+20A>G) c.3595+20A>G (n.3595+20A>G) c.3008+20A>G (n.3008+20A>G) c.3064+20A>G (n.3064+20A>G) c.3664+20A>G (n.3664+20A>G) c.3169+20A>G (n.3169+20A>G) c.3682+20A>G (n.3682+20A>G) c.3400+20A>G (n.3400+20A>G) c.3544+20A>G (n.3544+20A>G) c.3541+20A>G (n.3541+20A>G) c.3403+20A>G (n.3403+20A>G) c.3076+20A>G (n.3076+20A>G) c.3073+20A>G (n.3073+20A>G) c.3172+20A>G (n.3172+20A>G) c.*3100+20A>G (n.*3100+20A>G) c.2106+182761A>G (n.2106+182761A>G) n.163+20A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.184327469T>C | CA2732871 | EIF2B5,EIF4G1 | c.3661+21T>C (n.3661+21T>C) c.3595+21T>C (n.3595+21T>C) c.3008+21T>C (n.3008+21T>C) c.3064+21T>C (n.3064+21T>C) c.3664+21T>C (n.3664+21T>C) c.3169+21T>C (n.3169+21T>C) c.3682+21T>C (n.3682+21T>C) c.3400+21T>C (n.3400+21T>C) c.3544+21T>C (n.3544+21T>C) c.3541+21T>C (n.3541+21T>C) c.3403+21T>C (n.3403+21T>C) c.3076+21T>C (n.3076+21T>C) c.3073+21T>C (n.3073+21T>C) c.3172+21T>C (n.3172+21T>C) c.*3100+21T>C (n.*3100+21T>C) c.2106+182762T>C (n.2106+182762T>C) n.163+21T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.184327469T= | CA1425958505 | EIF2B5,EIF4G1 | c.3661+21T= (n.3661+21T=) c.3595+21T= (n.3595+21T=) c.3008+21T= (n.3008+21T=) c.3064+21T= (n.3064+21T=) c.3664+21T= (n.3664+21T=) c.3169+21T= (n.3169+21T=) c.3682+21T= (n.3682+21T=) c.3400+21T= (n.3400+21T=) c.3544+21T= (n.3544+21T=) c.3541+21T= (n.3541+21T=) c.3403+21T= (n.3403+21T=) c.3076+21T= (n.3076+21T=) c.3073+21T= (n.3073+21T=) c.3172+21T= (n.3172+21T=) c.*3100+21T= (n.*3100+21T=) c.2106+182762T= (n.2106+182762T=) n.163+21T= | |
3 | g.184327469_184327470delinsTG | CA1425958506 | EIF2B5,EIF4G1 | c.3661+21_3661+22delinsTG (n.3661+21_3661+22delinsTG) c.3595+21_3595+22delinsTG (n.3595+21_3595+22delinsTG) c.3008+21_3008+22delinsTG (n.3008+21_3008+22delinsTG) c.3064+21_3064+22delinsTG (n.3064+21_3064+22delinsTG) c.3664+21_3664+22delinsTG (n.3664+21_3664+22delinsTG) c.3169+21_3169+22delinsTG (n.3169+21_3169+22delinsTG) c.3682+21_3682+22delinsTG (n.3682+21_3682+22delinsTG) c.3400+21_3400+22delinsTG (n.3400+21_3400+22delinsTG) c.3544+21_3544+22delinsTG (n.3544+21_3544+22delinsTG) c.3541+21_3541+22delinsTG (n.3541+21_3541+22delinsTG) c.3403+21_3403+22delinsTG (n.3403+21_3403+22delinsTG) c.3076+21_3076+22delinsTG (n.3076+21_3076+22delinsTG) c.3073+21_3073+22delinsTG (n.3073+21_3073+22delinsTG) c.3172+21_3172+22delinsTG (n.3172+21_3172+22delinsTG) c.*3100+21_*3100+22delinsTG (n.*3100+21_*3100+22delinsTG) c.2106+182762_2106+182763delinsTG (n.2106+182762_2106+182763delinsTG) n.163+21_163+22delinsTG | |
3 | g.184327470G>A | CA2668840866 | EIF2B5,EIF4G1 | c.3661+22G>A (n.3661+22G>A) c.3595+22G>A (n.3595+22G>A) c.3008+22G>A (n.3008+22G>A) c.3064+22G>A (n.3064+22G>A) c.3664+22G>A (n.3664+22G>A) c.3169+22G>A (n.3169+22G>A) c.3682+22G>A (n.3682+22G>A) c.3400+22G>A (n.3400+22G>A) c.3544+22G>A (n.3544+22G>A) c.3541+22G>A (n.3541+22G>A) c.3403+22G>A (n.3403+22G>A) c.3076+22G>A (n.3076+22G>A) c.3073+22G>A (n.3073+22G>A) c.3172+22G>A (n.3172+22G>A) c.*3100+22G>A (n.*3100+22G>A) c.2106+182763G>A (n.2106+182763G>A) n.163+22G>A | gnomAD v4 |
3 | g.184327470G>C | CA2577978171 | EIF2B5,EIF4G1 | c.3661+22G>C (n.3661+22G>C) c.3595+22G>C (n.3595+22G>C) c.3008+22G>C (n.3008+22G>C) c.3064+22G>C (n.3064+22G>C) c.3664+22G>C (n.3664+22G>C) c.3169+22G>C (n.3169+22G>C) c.3682+22G>C (n.3682+22G>C) c.3400+22G>C (n.3400+22G>C) c.3544+22G>C (n.3544+22G>C) c.3541+22G>C (n.3541+22G>C) c.3403+22G>C (n.3403+22G>C) c.3076+22G>C (n.3076+22G>C) c.3073+22G>C (n.3073+22G>C) c.3172+22G>C (n.3172+22G>C) c.*3100+22G>C (n.*3100+22G>C) c.2106+182763G>C (n.2106+182763G>C) n.163+22G>C | |
3 | g.184327471del | CA1057223832 | EIF2B5,EIF4G1 | c.3661+23del (n.3661+23del) c.3595+23del (n.3595+23del) c.3008+23del (n.3008+23del) c.3064+23del (n.3064+23del) c.3664+23del (n.3664+23del) c.3169+23del (n.3169+23del) c.3682+23del (n.3682+23del) c.3400+23del (n.3400+23del) c.3544+23del (n.3544+23del) c.3541+23del (n.3541+23del) c.3403+23del (n.3403+23del) c.3076+23del (n.3076+23del) c.3073+23del (n.3073+23del) c.3172+23del (n.3172+23del) c.*3100+23del (n.*3100+23del) c.2106+182764del (n.2106+182764del) n.163+23del | dbSNP gnomAD v3 gnomAD v4 |
3 | g.184327471G>A | CA2732872 | EIF2B5,EIF4G1 | c.3661+23G>A (n.3661+23G>A) c.3595+23G>A (n.3595+23G>A) c.3008+23G>A (n.3008+23G>A) c.3064+23G>A (n.3064+23G>A) c.3664+23G>A (n.3664+23G>A) c.3169+23G>A (n.3169+23G>A) c.3682+23G>A (n.3682+23G>A) c.3400+23G>A (n.3400+23G>A) c.3544+23G>A (n.3544+23G>A) c.3541+23G>A (n.3541+23G>A) c.3403+23G>A (n.3403+23G>A) c.3076+23G>A (n.3076+23G>A) c.3073+23G>A (n.3073+23G>A) c.3172+23G>A (n.3172+23G>A) c.*3100+23G>A (n.*3100+23G>A) c.2106+182764G>A (n.2106+182764G>A) n.163+23G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.184327471G= | CA1425958509 | EIF2B5,EIF4G1 | c.3661+23G= (n.3661+23G=) c.3595+23G= (n.3595+23G=) c.3008+23G= (n.3008+23G=) c.3064+23G= (n.3064+23G=) c.3664+23G= (n.3664+23G=) c.3169+23G= (n.3169+23G=) c.3682+23G= (n.3682+23G=) c.3400+23G= (n.3400+23G=) c.3544+23G= (n.3544+23G=) c.3541+23G= (n.3541+23G=) c.3403+23G= (n.3403+23G=) c.3076+23G= (n.3076+23G=) c.3073+23G= (n.3073+23G=) c.3172+23G= (n.3172+23G=) c.*3100+23G= (n.*3100+23G=) c.2106+182764G= (n.2106+182764G=) n.163+23G= | |
3 | g.184327471G>T | CA1425958511 | EIF2B5,EIF4G1 | c.3661+23G>T (n.3661+23G>T) c.3595+23G>T (n.3595+23G>T) c.3008+23G>T (n.3008+23G>T) c.3064+23G>T (n.3064+23G>T) c.3664+23G>T (n.3664+23G>T) c.3169+23G>T (n.3169+23G>T) c.3682+23G>T (n.3682+23G>T) c.3400+23G>T (n.3400+23G>T) c.3544+23G>T (n.3544+23G>T) c.3541+23G>T (n.3541+23G>T) c.3403+23G>T (n.3403+23G>T) c.3076+23G>T (n.3076+23G>T) c.3073+23G>T (n.3073+23G>T) c.3172+23G>T (n.3172+23G>T) c.*3100+23G>T (n.*3100+23G>T) c.2106+182764G>T (n.2106+182764G>T) n.163+23G>T | dbSNP |
3 | g.184327474G>A | CA2668840914 | EIF2B5,EIF4G1 | c.3661+26G>A (n.3661+26G>A) c.3595+26G>A (n.3595+26G>A) c.3008+26G>A (n.3008+26G>A) c.3064+26G>A (n.3064+26G>A) c.3664+26G>A (n.3664+26G>A) c.3169+26G>A (n.3169+26G>A) c.3682+26G>A (n.3682+26G>A) c.3400+26G>A (n.3400+26G>A) c.3544+26G>A (n.3544+26G>A) c.3541+26G>A (n.3541+26G>A) c.3403+26G>A (n.3403+26G>A) c.3076+26G>A (n.3076+26G>A) c.3073+26G>A (n.3073+26G>A) c.3172+26G>A (n.3172+26G>A) c.*3100+26G>A (n.*3100+26G>A) c.2106+182767G>A (n.2106+182767G>A) n.163+26G>A | gnomAD v4 |
3 | g.184327476A= | CA1425958512 | EIF2B5,EIF4G1 | c.3661+28A= (n.3661+28A=) c.3595+28A= (n.3595+28A=) c.3008+28A= (n.3008+28A=) c.3064+28A= (n.3064+28A=) c.3664+28A= (n.3664+28A=) c.3169+28A= (n.3169+28A=) c.3682+28A= (n.3682+28A=) c.3400+28A= (n.3400+28A=) c.3544+28A= (n.3544+28A=) c.3541+28A= (n.3541+28A=) c.3403+28A= (n.3403+28A=) c.3076+28A= (n.3076+28A=) c.3073+28A= (n.3073+28A=) c.3172+28A= (n.3172+28A=) c.*3100+28A= (n.*3100+28A=) c.2106+182769A= (n.2106+182769A=) n.163+28A= | |
3 | g.184327476A>G | CA1425958513 | EIF2B5,EIF4G1 | c.3661+28A>G (n.3661+28A>G) c.3595+28A>G (n.3595+28A>G) c.3008+28A>G (n.3008+28A>G) c.3064+28A>G (n.3064+28A>G) c.3664+28A>G (n.3664+28A>G) c.3169+28A>G (n.3169+28A>G) c.3682+28A>G (n.3682+28A>G) c.3400+28A>G (n.3400+28A>G) c.3544+28A>G (n.3544+28A>G) c.3541+28A>G (n.3541+28A>G) c.3403+28A>G (n.3403+28A>G) c.3076+28A>G (n.3076+28A>G) c.3073+28A>G (n.3073+28A>G) c.3172+28A>G (n.3172+28A>G) c.*3100+28A>G (n.*3100+28A>G) c.2106+182769A>G (n.2106+182769A>G) n.163+28A>G | dbSNP |