| 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 |