Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.184327313C>A | CA2732834 | EIF2B5,EIF4G1 | c.3526C>A (p.Arg1176Ser) c.3460C>A (p.Arg1154Ser) c.2873C>A (n.2873C>A) c.2931C>A (p.Ile977=) c.3529C>A (p.Arg1177Ser) c.3034C>A (p.Arg1012Ser) c.3547C>A (p.Arg1183Ser) c.3265C>A (p.Arg1089Ser) c.3409C>A (p.Arg1137Ser) c.3406C>A (p.Arg1136Ser) c.3268C>A (p.Arg1090Ser) c.2941C>A (p.Arg981Ser) c.2938C>A (p.Arg980Ser) c.3037C>A (p.Arg1013Ser) c.*2965C>A (n.*2965C>A) c.2106+182606C>A (n.2106+182606C>A) n.28C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.184327313C= | CA1425958263 | EIF2B5,EIF4G1 | c.3526C= (p.Arg1176=) c.3460C= (p.Arg1154=) c.2873C= (n.2873C=) c.2931C= (p.Ile977=) c.3529C= (p.Arg1177=) c.3034C= (p.Arg1012=) c.3547C= (p.Arg1183=) c.3265C= (p.Arg1089=) c.3409C= (p.Arg1137=) c.3406C= (p.Arg1136=) c.3268C= (p.Arg1090=) c.2941C= (p.Arg981=) c.2938C= (p.Arg980=) c.3037C= (p.Arg1013=) c.*2965C= (n.*2965C=) c.2106+182606C= (n.2106+182606C=) n.28C= | |
3 | g.184327313C>G | CA2732835 | EIF2B5,EIF4G1 | c.3526C>G (p.Arg1176Gly) c.3460C>G (p.Arg1154Gly) c.2873C>G (n.2873C>G) c.2931C>G (p.Ile977Met) c.3529C>G (p.Arg1177Gly) c.3034C>G (p.Arg1012Gly) c.3547C>G (p.Arg1183Gly) c.3265C>G (p.Arg1089Gly) c.3409C>G (p.Arg1137Gly) c.3406C>G (p.Arg1136Gly) c.3268C>G (p.Arg1090Gly) c.2941C>G (p.Arg981Gly) c.2938C>G (p.Arg980Gly) c.3037C>G (p.Arg1013Gly) c.*2965C>G (n.*2965C>G) c.2106+182606C>G (n.2106+182606C>G) n.28C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.184327313C>T | CA2732833 | EIF2B5,EIF4G1 | c.3526C>T (p.Arg1176Cys) c.3460C>T (p.Arg1154Cys) c.2873C>T (n.2873C>T) c.2931C>T (p.Ile977=) c.3529C>T (p.Arg1177Cys) c.3034C>T (p.Arg1012Cys) c.3547C>T (p.Arg1183Cys) c.3265C>T (p.Arg1089Cys) c.3409C>T (p.Arg1137Cys) c.3406C>T (p.Arg1136Cys) c.3268C>T (p.Arg1090Cys) c.2941C>T (p.Arg981Cys) c.2938C>T (p.Arg980Cys) c.3037C>T (p.Arg1013Cys) c.*2965C>T (n.*2965C>T) c.2106+182606C>T (n.2106+182606C>T) n.28C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.184327314G>A | CA2732836 | EIF2B5,EIF4G1 | c.3527G>A (p.Arg1176His) c.3461G>A (p.Arg1154His) c.2874G>A (n.2874G>A) c.2932G>A (p.Val978Met) c.3530G>A (p.Arg1177His) c.3035G>A (p.Arg1012His) c.3548G>A (p.Arg1183His) c.3266G>A (p.Arg1089His) c.3410G>A (p.Arg1137His) c.3407G>A (p.Arg1136His) c.3269G>A (p.Arg1090His) c.2942G>A (p.Arg981His) c.2939G>A (p.Arg980His) c.3038G>A (p.Arg1013His) c.*2966G>A (n.*2966G>A) c.2106+182607G>A (n.2106+182607G>A) n.29G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.184327314G>C | CA355414715 | EIF2B5,EIF4G1 | c.3527G>C (p.Arg1176Pro) c.3461G>C (p.Arg1154Pro) c.2874G>C (n.2874G>C) c.2932G>C (p.Val978Leu) c.3530G>C (p.Arg1177Pro) c.3035G>C (p.Arg1012Pro) c.3548G>C (p.Arg1183Pro) c.3266G>C (p.Arg1089Pro) c.3410G>C (p.Arg1137Pro) c.3407G>C (p.Arg1136Pro) c.3269G>C (p.Arg1090Pro) c.2942G>C (p.Arg981Pro) c.2939G>C (p.Arg980Pro) c.3038G>C (p.Arg1013Pro) c.*2966G>C (n.*2966G>C) c.2106+182607G>C (n.2106+182607G>C) n.29G>C | |
3 | g.184327314G= | CA1425958265 | EIF2B5,EIF4G1 | c.3527G= (p.Arg1176=) c.3461G= (p.Arg1154=) c.2874G= (n.2874G=) c.2932G= (p.Val978=) c.3530G= (p.Arg1177=) c.3035G= (p.Arg1012=) c.3548G= (p.Arg1183=) c.3266G= (p.Arg1089=) c.3410G= (p.Arg1137=) c.3407G= (p.Arg1136=) c.3269G= (p.Arg1090=) c.2942G= (p.Arg981=) c.2939G= (p.Arg980=) c.3038G= (p.Arg1013=) c.*2966G= (n.*2966G=) c.2106+182607G= (n.2106+182607G=) n.29G= | |
3 | g.184327314G>T | CA2732837 | EIF2B5,EIF4G1 | c.3527G>T (p.Arg1176Leu) c.3461G>T (p.Arg1154Leu) c.2874G>T (n.2874G>T) c.2932G>T (p.Val978Leu) c.3530G>T (p.Arg1177Leu) c.3035G>T (p.Arg1012Leu) c.3548G>T (p.Arg1183Leu) c.3266G>T (p.Arg1089Leu) c.3410G>T (p.Arg1137Leu) c.3407G>T (p.Arg1136Leu) c.3269G>T (p.Arg1090Leu) c.2942G>T (p.Arg981Leu) c.2939G>T (p.Arg980Leu) c.3038G>T (p.Arg1013Leu) c.*2966G>T (n.*2966G>T) c.2106+182607G>T (n.2106+182607G>T) n.29G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.184327315T>A | CA2732838 | EIF2B5,EIF4G1 | c.3528T>A (p.Arg1176=) c.3462T>A (p.Arg1154=) c.2875T>A (n.2875T>A) c.2933T>A (p.Val978Glu) c.3531T>A (p.Arg1177=) c.3036T>A (p.Arg1012=) c.3549T>A (p.Arg1183=) c.3267T>A (p.Arg1089=) c.3411T>A (p.Arg1137=) c.3408T>A (p.Arg1136=) c.3270T>A (p.Arg1090=) c.2943T>A (p.Arg981=) c.2940T>A (p.Arg980=) c.3039T>A (p.Arg1013=) c.*2967T>A (n.*2967T>A) c.2106+182608T>A (n.2106+182608T>A) n.30T>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.184327315T>C | CA355414722 | EIF2B5,EIF4G1 | c.3528T>C (p.Arg1176=) c.3462T>C (p.Arg1154=) c.2875T>C (n.2875T>C) c.2933T>C (p.Val978Ala) c.3531T>C (p.Arg1177=) c.3036T>C (p.Arg1012=) c.3549T>C (p.Arg1183=) c.3267T>C (p.Arg1089=) c.3411T>C (p.Arg1137=) c.3408T>C (p.Arg1136=) c.3270T>C (p.Arg1090=) c.2943T>C (p.Arg981=) c.2940T>C (p.Arg980=) c.3039T>C (p.Arg1013=) c.*2967T>C (n.*2967T>C) c.2106+182608T>C (n.2106+182608T>C) n.30T>C | |
3 | g.184327315T>G | CA355414728 | EIF2B5,EIF4G1 | c.3528T>G (p.Arg1176=) c.3462T>G (p.Arg1154=) c.2875T>G (n.2875T>G) c.2933T>G (p.Val978Gly) c.3531T>G (p.Arg1177=) c.3036T>G (p.Arg1012=) c.3549T>G (p.Arg1183=) c.3267T>G (p.Arg1089=) c.3411T>G (p.Arg1137=) c.3408T>G (p.Arg1136=) c.3270T>G (p.Arg1090=) c.2943T>G (p.Arg981=) c.2940T>G (p.Arg980=) c.3039T>G (p.Arg1013=) c.*2967T>G (n.*2967T>G) c.2106+182608T>G (n.2106+182608T>G) n.30T>G | |
3 | g.184327315T= | CA1425958269 | EIF2B5,EIF4G1 | c.3528T= (p.Arg1176=) c.3462T= (p.Arg1154=) c.2875T= (n.2875T=) c.2933T= (p.Val978=) c.3531T= (p.Arg1177=) c.3036T= (p.Arg1012=) c.3549T= (p.Arg1183=) c.3267T= (p.Arg1089=) c.3411T= (p.Arg1137=) c.3408T= (p.Arg1136=) c.3270T= (p.Arg1090=) c.2943T= (p.Arg981=) c.2940T= (p.Arg980=) c.3039T= (p.Arg1013=) c.*2967T= (n.*2967T=) c.2106+182608T= (n.2106+182608T=) n.30T= | |
3 | g.184327316G>A | CA355414731 | EIF2B5,EIF4G1 | c.3529G>A (p.Ala1177Thr) c.3463G>A (p.Ala1155Thr) c.2876G>A (n.2876G>A) c.2934G>A (p.Val978=) c.3532G>A (p.Ala1178Thr) c.3037G>A (p.Ala1013Thr) c.3550G>A (p.Ala1184Thr) c.3268G>A (p.Ala1090Thr) c.3412G>A (p.Ala1138Thr) c.3409G>A (p.Ala1137Thr) c.3271G>A (p.Ala1091Thr) c.2944G>A (p.Ala982Thr) c.2941G>A (p.Ala981Thr) c.3040G>A (p.Ala1014Thr) c.*2968G>A (n.*2968G>A) c.2106+182609G>A (n.2106+182609G>A) n.31G>A | gnomAD v4 |
3 | g.184327316G>C | CA355414736 | EIF2B5,EIF4G1 | c.3529G>C (p.Ala1177Pro) c.3463G>C (p.Ala1155Pro) c.2876G>C (n.2876G>C) c.2934G>C (p.Val978=) c.3532G>C (p.Ala1178Pro) c.3037G>C (p.Ala1013Pro) c.3550G>C (p.Ala1184Pro) c.3268G>C (p.Ala1090Pro) c.3412G>C (p.Ala1138Pro) c.3409G>C (p.Ala1137Pro) c.3271G>C (p.Ala1091Pro) c.2944G>C (p.Ala982Pro) c.2941G>C (p.Ala981Pro) c.3040G>C (p.Ala1014Pro) c.*2968G>C (n.*2968G>C) c.2106+182609G>C (n.2106+182609G>C) n.31G>C | |
3 | g.184327316G>T | CA355414740 | EIF2B5,EIF4G1 | c.3529G>T (p.Ala1177Ser) c.3463G>T (p.Ala1155Ser) c.2876G>T (n.2876G>T) c.2934G>T (p.Val978=) c.3532G>T (p.Ala1178Ser) c.3037G>T (p.Ala1013Ser) c.3550G>T (p.Ala1184Ser) c.3268G>T (p.Ala1090Ser) c.3412G>T (p.Ala1138Ser) c.3409G>T (p.Ala1137Ser) c.3271G>T (p.Ala1091Ser) c.2944G>T (p.Ala982Ser) c.2941G>T (p.Ala981Ser) c.3040G>T (p.Ala1014Ser) c.*2968G>T (n.*2968G>T) c.2106+182609G>T (n.2106+182609G>T) n.31G>T | |
3 | g.184327317C>A | CA355414746 | EIF2B5,EIF4G1 | c.3530C>A (p.Ala1177Glu) c.3464C>A (p.Ala1155Glu) c.2877C>A (n.2877C>A) c.2935C>A (p.Arg979Ser) c.3533C>A (p.Ala1178Glu) c.3038C>A (p.Ala1013Glu) c.3551C>A (p.Ala1184Glu) c.3269C>A (p.Ala1090Glu) c.3413C>A (p.Ala1138Glu) c.3410C>A (p.Ala1137Glu) c.3272C>A (p.Ala1091Glu) c.2945C>A (p.Ala982Glu) c.2942C>A (p.Ala981Glu) c.3041C>A (p.Ala1014Glu) c.*2969C>A (n.*2969C>A) c.2106+182610C>A (n.2106+182610C>A) n.32C>A | |
3 | g.184327317C= | CA1425958272 | EIF2B5,EIF4G1 | c.3530C= (p.Ala1177=) c.3464C= (p.Ala1155=) c.2877C= (n.2877C=) c.2935C= (p.Arg979=) c.3533C= (p.Ala1178=) c.3038C= (p.Ala1013=) c.3551C= (p.Ala1184=) c.3269C= (p.Ala1090=) c.3413C= (p.Ala1138=) c.3410C= (p.Ala1137=) c.3272C= (p.Ala1091=) c.2945C= (p.Ala982=) c.2942C= (p.Ala981=) c.3041C= (p.Ala1014=) c.*2969C= (n.*2969C=) c.2106+182610C= (n.2106+182610C=) n.32C= | |
3 | g.184327317C>G | CA355414750 | EIF2B5,EIF4G1 | c.3530C>G (p.Ala1177Gly) c.3464C>G (p.Ala1155Gly) c.2877C>G (n.2877C>G) c.2935C>G (p.Arg979Gly) c.3533C>G (p.Ala1178Gly) c.3038C>G (p.Ala1013Gly) c.3551C>G (p.Ala1184Gly) c.3269C>G (p.Ala1090Gly) c.3413C>G (p.Ala1138Gly) c.3410C>G (p.Ala1137Gly) c.3272C>G (p.Ala1091Gly) c.2945C>G (p.Ala982Gly) c.2942C>G (p.Ala981Gly) c.3041C>G (p.Ala1014Gly) c.*2969C>G (n.*2969C>G) c.2106+182610C>G (n.2106+182610C>G) n.32C>G | |
3 | g.184327317C>T | CA2732839 | EIF2B5,EIF4G1 | c.3530C>T (p.Ala1177Val) c.3464C>T (p.Ala1155Val) c.2877C>T (n.2877C>T) c.2935C>T (p.Arg979Cys) c.3533C>T (p.Ala1178Val) c.3038C>T (p.Ala1013Val) c.3551C>T (p.Ala1184Val) c.3269C>T (p.Ala1090Val) c.3413C>T (p.Ala1138Val) c.3410C>T (p.Ala1137Val) c.3272C>T (p.Ala1091Val) c.2945C>T (p.Ala982Val) c.2942C>T (p.Ala981Val) c.3041C>T (p.Ala1014Val) c.*2969C>T (n.*2969C>T) c.2106+182610C>T (n.2106+182610C>T) n.32C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
3 | g.184327318G>A | CA2732840 | EIF2B5,EIF4G1 | c.3531G>A (p.Ala1177=) c.3465G>A (p.Ala1155=) c.2878G>A (n.2878G>A) c.2936G>A (p.Arg979His) c.3534G>A (p.Ala1178=) c.3039G>A (p.Ala1013=) c.3552G>A (p.Ala1184=) c.3270G>A (p.Ala1090=) c.3414G>A (p.Ala1138=) c.3411G>A (p.Ala1137=) c.3273G>A (p.Ala1091=) c.2946G>A (p.Ala982=) c.2943G>A (p.Ala981=) c.3042G>A (p.Ala1014=) c.*2970G>A (n.*2970G>A) c.2106+182611G>A (n.2106+182611G>A) n.33G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
3 | g.184327318G>C | CA355414764 | EIF2B5,EIF4G1 | c.3531G>C (p.Ala1177=) c.3465G>C (p.Ala1155=) c.2878G>C (n.2878G>C) c.2936G>C (p.Arg979Pro) c.3534G>C (p.Ala1178=) c.3039G>C (p.Ala1013=) c.3552G>C (p.Ala1184=) c.3270G>C (p.Ala1090=) c.3414G>C (p.Ala1138=) c.3411G>C (p.Ala1137=) c.3273G>C (p.Ala1091=) c.2946G>C (p.Ala982=) c.2943G>C (p.Ala981=) c.3042G>C (p.Ala1014=) c.*2970G>C (n.*2970G>C) c.2106+182611G>C (n.2106+182611G>C) n.33G>C | |
3 | g.184327318G= | CA1425958274 | EIF2B5,EIF4G1 | c.3531G= (p.Ala1177=) c.3465G= (p.Ala1155=) c.2878G= (n.2878G=) c.2936G= (p.Arg979=) c.3534G= (p.Ala1178=) c.3039G= (p.Ala1013=) c.3552G= (p.Ala1184=) c.3270G= (p.Ala1090=) c.3414G= (p.Ala1138=) c.3411G= (p.Ala1137=) c.3273G= (p.Ala1091=) c.2946G= (p.Ala982=) c.2943G= (p.Ala981=) c.3042G= (p.Ala1014=) c.*2970G= (n.*2970G=) c.2106+182611G= (n.2106+182611G=) n.33G= | |
3 | g.184327318G>T | CA355414765 | EIF2B5,EIF4G1 | c.3531G>T (p.Ala1177=) c.3465G>T (p.Ala1155=) c.2878G>T (n.2878G>T) c.2936G>T (p.Arg979Leu) c.3534G>T (p.Ala1178=) c.3039G>T (p.Ala1013=) c.3552G>T (p.Ala1184=) c.3270G>T (p.Ala1090=) c.3414G>T (p.Ala1138=) c.3411G>T (p.Ala1137=) c.3273G>T (p.Ala1091=) c.2946G>T (p.Ala982=) c.2943G>T (p.Ala981=) c.3042G>T (p.Ala1014=) c.*2970G>T (n.*2970G>T) c.2106+182611G>T (n.2106+182611G>T) n.33G>T | |
3 | g.184327319C>A | CA437330519 | EIF2B5,EIF4G1 | c.3532C>A (p.Arg1178=) c.3466C>A (p.Arg1156=) c.2879C>A (n.2879C>A) c.2937C>A (p.Arg979=) c.3535C>A (p.Arg1179=) c.3040C>A (p.Arg1014=) c.3553C>A (p.Arg1185=) c.3271C>A (p.Arg1091=) c.3415C>A (p.Arg1139=) c.3412C>A (p.Arg1138=) c.3274C>A (p.Arg1092=) c.2947C>A (p.Arg983=) c.2944C>A (p.Arg982=) c.3043C>A (p.Arg1015=) c.*2971C>A (n.*2971C>A) c.2106+182612C>A (n.2106+182612C>A) n.34C>A | |
3 | g.184327319C= | CA1425958280 | EIF2B5,EIF4G1 | c.3532C= (p.Arg1178=) c.3466C= (p.Arg1156=) c.2879C= (n.2879C=) c.2937C= (p.Arg979=) c.3535C= (p.Arg1179=) c.3040C= (p.Arg1014=) c.3553C= (p.Arg1185=) c.3271C= (p.Arg1091=) c.3415C= (p.Arg1139=) c.3412C= (p.Arg1138=) c.3274C= (p.Arg1092=) c.2947C= (p.Arg983=) c.2944C= (p.Arg982=) c.3043C= (p.Arg1015=) c.*2971C= (n.*2971C=) c.2106+182612C= (n.2106+182612C=) n.34C= | |
3 | g.184327319C>G | CA355414773 | EIF2B5,EIF4G1 | c.3532C>G (p.Arg1178Gly) c.3466C>G (p.Arg1156Gly) c.2879C>G (n.2879C>G) c.2937C>G (p.Arg979=) c.3535C>G (p.Arg1179Gly) c.3040C>G (p.Arg1014Gly) c.3553C>G (p.Arg1185Gly) c.3271C>G (p.Arg1091Gly) c.3415C>G (p.Arg1139Gly) c.3412C>G (p.Arg1138Gly) c.3274C>G (p.Arg1092Gly) c.2947C>G (p.Arg983Gly) c.2944C>G (p.Arg982Gly) c.3043C>G (p.Arg1015Gly) c.*2971C>G (n.*2971C>G) c.2106+182612C>G (n.2106+182612C>G) n.34C>G | |
3 | g.184327319C>T | CA2732841 | EIF2B5,EIF4G1 | c.3532C>T (p.Arg1178Trp) c.3466C>T (p.Arg1156Trp) c.2879C>T (n.2879C>T) c.2937C>T (p.Arg979=) c.3535C>T (p.Arg1179Trp) c.3040C>T (p.Arg1014Trp) c.3553C>T (p.Arg1185Trp) c.3271C>T (p.Arg1091Trp) c.3415C>T (p.Arg1139Trp) c.3412C>T (p.Arg1138Trp) c.3274C>T (p.Arg1092Trp) c.2947C>T (p.Arg983Trp) c.2944C>T (p.Arg982Trp) c.3043C>T (p.Arg1015Trp) c.*2971C>T (n.*2971C>T) c.2106+182612C>T (n.2106+182612C>T) n.34C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.184327320G>A | CA355414776 | EIF2B5,EIF4G1 | c.3533G>A (p.Arg1178Gln) c.3467G>A (p.Arg1156Gln) c.2880G>A (n.2880G>A) c.2938-2G>A (n.2938-2G>A) c.3536G>A (p.Arg1179Gln) c.3041G>A (p.Arg1014Gln) c.3554G>A (p.Arg1185Gln) c.3272G>A (p.Arg1091Gln) c.3416G>A (p.Arg1139Gln) c.3413G>A (p.Arg1138Gln) c.3275G>A (p.Arg1092Gln) c.2948G>A (p.Arg983Gln) c.2945G>A (p.Arg982Gln) c.3044G>A (p.Arg1015Gln) c.*2972G>A (n.*2972G>A) c.2106+182613G>A (n.2106+182613G>A) n.35G>A | dbSNP gnomAD v3 gnomAD v4 |
3 | g.184327320G>C | CA355414779 | EIF2B5,EIF4G1 | c.3533G>C (p.Arg1178Pro) c.3467G>C (p.Arg1156Pro) c.2880G>C (n.2880G>C) c.2938-2G>C (n.2938-2G>C) c.3536G>C (p.Arg1179Pro) c.3041G>C (p.Arg1014Pro) c.3554G>C (p.Arg1185Pro) c.3272G>C (p.Arg1091Pro) c.3416G>C (p.Arg1139Pro) c.3413G>C (p.Arg1138Pro) c.3275G>C (p.Arg1092Pro) c.2948G>C (p.Arg983Pro) c.2945G>C (p.Arg982Pro) c.3044G>C (p.Arg1015Pro) c.*2972G>C (n.*2972G>C) c.2106+182613G>C (n.2106+182613G>C) n.35G>C | |
3 | g.184327320G= | CA1425958284 | EIF2B5,EIF4G1 | c.3533G= (p.Arg1178=) c.3467G= (p.Arg1156=) c.2880G= (n.2880G=) c.2938-2G= (n.2938-2G=) c.3536G= (p.Arg1179=) c.3041G= (p.Arg1014=) c.3554G= (p.Arg1185=) c.3272G= (p.Arg1091=) c.3416G= (p.Arg1139=) c.3413G= (p.Arg1138=) c.3275G= (p.Arg1092=) c.2948G= (p.Arg983=) c.2945G= (p.Arg982=) c.3044G= (p.Arg1015=) c.*2972G= (n.*2972G=) c.2106+182613G= (n.2106+182613G=) n.35G= | |
3 | g.184327320G>T | CA355414780 | EIF2B5,EIF4G1 | c.3533G>T (p.Arg1178Leu) c.3467G>T (p.Arg1156Leu) c.2880G>T (n.2880G>T) c.2938-2G>T (n.2938-2G>T) c.3536G>T (p.Arg1179Leu) c.3041G>T (p.Arg1014Leu) c.3554G>T (p.Arg1185Leu) c.3272G>T (p.Arg1091Leu) c.3416G>T (p.Arg1139Leu) c.3413G>T (p.Arg1138Leu) c.3275G>T (p.Arg1092Leu) c.2948G>T (p.Arg983Leu) c.2945G>T (p.Arg982Leu) c.3044G>T (p.Arg1015Leu) c.*2972G>T (n.*2972G>T) c.2106+182613G>T (n.2106+182613G>T) n.35G>T | gnomAD v4 |
3 | g.184327321G>A | CA355414781 | EIF2B5,EIF4G1 | c.3534G>A (p.Arg1178=) c.3468G>A (p.Arg1156=) c.2881G>A (n.2881G>A) c.2938-1G>A (n.2938-1G>A) c.3537G>A (p.Arg1179=) c.3042G>A (p.Arg1014=) c.3555G>A (p.Arg1185=) c.3273G>A (p.Arg1091=) c.3417G>A (p.Arg1139=) c.3414G>A (p.Arg1138=) c.3276G>A (p.Arg1092=) c.2949G>A (p.Arg983=) c.2946G>A (p.Arg982=) c.3045G>A (p.Arg1015=) c.*2973G>A (n.*2973G>A) c.2106+182614G>A (n.2106+182614G>A) n.36G>A | |
3 | g.184327321G>C | CA355414784 | EIF2B5,EIF4G1 | c.3534G>C (p.Arg1178=) c.3468G>C (p.Arg1156=) c.2881G>C (n.2881G>C) c.2938-1G>C (n.2938-1G>C) c.3537G>C (p.Arg1179=) c.3042G>C (p.Arg1014=) c.3555G>C (p.Arg1185=) c.3273G>C (p.Arg1091=) c.3417G>C (p.Arg1139=) c.3414G>C (p.Arg1138=) c.3276G>C (p.Arg1092=) c.2949G>C (p.Arg983=) c.2946G>C (p.Arg982=) c.3045G>C (p.Arg1015=) c.*2973G>C (n.*2973G>C) c.2106+182614G>C (n.2106+182614G>C) n.36G>C | |
3 | g.184327321G>T | CA355414787 | EIF2B5,EIF4G1 | c.3534G>T (p.Arg1178=) c.3468G>T (p.Arg1156=) c.2881G>T (n.2881G>T) c.2938-1G>T (n.2938-1G>T) c.3537G>T (p.Arg1179=) c.3042G>T (p.Arg1014=) c.3555G>T (p.Arg1185=) c.3273G>T (p.Arg1091=) c.3417G>T (p.Arg1139=) c.3414G>T (p.Arg1138=) c.3276G>T (p.Arg1092=) c.2949G>T (p.Arg983=) c.2946G>T (p.Arg982=) c.3045G>T (p.Arg1015=) c.*2973G>T (n.*2973G>T) c.2106+182614G>T (n.2106+182614G>T) n.36G>T | |
3 | g.184327322A>C | CA355414791 | EIF2B5,EIF4G1 | c.3535A>C (p.Thr1179Pro) c.3469A>C (p.Thr1157Pro) c.2882A>C (n.2882A>C) c.2938A>C (p.Thr980Pro) c.3538A>C (p.Thr1180Pro) c.3043A>C (p.Thr1015Pro) c.3556A>C (p.Thr1186Pro) c.3274A>C (p.Thr1092Pro) c.3418A>C (p.Thr1140Pro) c.3415A>C (p.Thr1139Pro) c.3277A>C (p.Thr1093Pro) c.2950A>C (p.Thr984Pro) c.2947A>C (p.Thr983Pro) c.3046A>C (p.Thr1016Pro) c.*2974A>C (n.*2974A>C) c.2106+182615A>C (n.2106+182615A>C) n.37A>C | |
3 | g.184327322A>G | CA355414794 | EIF2B5,EIF4G1 | c.3535A>G (p.Thr1179Ala) c.3469A>G (p.Thr1157Ala) c.2882A>G (n.2882A>G) c.2938A>G (p.Thr980Ala) c.3538A>G (p.Thr1180Ala) c.3043A>G (p.Thr1015Ala) c.3556A>G (p.Thr1186Ala) c.3274A>G (p.Thr1092Ala) c.3418A>G (p.Thr1140Ala) c.3415A>G (p.Thr1139Ala) c.3277A>G (p.Thr1093Ala) c.2950A>G (p.Thr984Ala) c.2947A>G (p.Thr983Ala) c.3046A>G (p.Thr1016Ala) c.*2974A>G (n.*2974A>G) c.2106+182615A>G (n.2106+182615A>G) n.37A>G | |
3 | g.184327322A>T | CA355414798 | EIF2B5,EIF4G1 | c.3535A>T (p.Thr1179Ser) c.3469A>T (p.Thr1157Ser) c.2882A>T (n.2882A>T) c.2938A>T (p.Thr980Ser) c.3538A>T (p.Thr1180Ser) c.3043A>T (p.Thr1015Ser) c.3556A>T (p.Thr1186Ser) c.3274A>T (p.Thr1092Ser) c.3418A>T (p.Thr1140Ser) c.3415A>T (p.Thr1139Ser) c.3277A>T (p.Thr1093Ser) c.2950A>T (p.Thr984Ser) c.2947A>T (p.Thr983Ser) c.3046A>T (p.Thr1016Ser) c.*2974A>T (n.*2974A>T) c.2106+182615A>T (n.2106+182615A>T) n.37A>T | |
3 | g.184327323C>A | CA355414809 | EIF2B5,EIF4G1 | c.3536C>A (p.Thr1179Lys) c.3470C>A (p.Thr1157Lys) c.2883C>A (n.2883C>A) c.2939C>A (p.Thr980Lys) c.3539C>A (p.Thr1180Lys) c.3044C>A (p.Thr1015Lys) c.3557C>A (p.Thr1186Lys) c.3275C>A (p.Thr1092Lys) c.3419C>A (p.Thr1140Lys) c.3416C>A (p.Thr1139Lys) c.3278C>A (p.Thr1093Lys) c.2951C>A (p.Thr984Lys) c.2948C>A (p.Thr983Lys) c.3047C>A (p.Thr1016Lys) c.*2975C>A (n.*2975C>A) c.2106+182616C>A (n.2106+182616C>A) n.38C>A | |
3 | g.184327323C>G | CA355414813 | EIF2B5,EIF4G1 | c.3536C>G (p.Thr1179Arg) c.3470C>G (p.Thr1157Arg) c.2883C>G (n.2883C>G) c.2939C>G (p.Thr980Arg) c.3539C>G (p.Thr1180Arg) c.3044C>G (p.Thr1015Arg) c.3557C>G (p.Thr1186Arg) c.3275C>G (p.Thr1092Arg) c.3419C>G (p.Thr1140Arg) c.3416C>G (p.Thr1139Arg) c.3278C>G (p.Thr1093Arg) c.2951C>G (p.Thr984Arg) c.2948C>G (p.Thr983Arg) c.3047C>G (p.Thr1016Arg) c.*2975C>G (n.*2975C>G) c.2106+182616C>G (n.2106+182616C>G) n.38C>G | |
3 | g.184327323C>T | CA355414816 | EIF2B5,EIF4G1 | c.3536C>T (p.Thr1179Ile) c.3470C>T (p.Thr1157Ile) c.2883C>T (n.2883C>T) c.2939C>T (p.Thr980Ile) c.3539C>T (p.Thr1180Ile) c.3044C>T (p.Thr1015Ile) c.3557C>T (p.Thr1186Ile) c.3275C>T (p.Thr1092Ile) c.3419C>T (p.Thr1140Ile) c.3416C>T (p.Thr1139Ile) c.3278C>T (p.Thr1093Ile) c.2951C>T (p.Thr984Ile) c.2948C>T (p.Thr983Ile) c.3047C>T (p.Thr1016Ile) c.*2975C>T (n.*2975C>T) c.2106+182616C>T (n.2106+182616C>T) n.38C>T | |
3 | g.184327324A>C | CA437330522 | EIF2B5,EIF4G1 | c.3537A>C (p.Thr1179=) c.3471A>C (p.Thr1157=) c.2884A>C (n.2884A>C) c.2940A>C (p.Thr980=) c.3540A>C (p.Thr1180=) c.3045A>C (p.Thr1015=) c.3558A>C (p.Thr1186=) c.3276A>C (p.Thr1092=) c.3420A>C (p.Thr1140=) c.3417A>C (p.Thr1139=) c.3279A>C (p.Thr1093=) c.2952A>C (p.Thr984=) c.2949A>C (p.Thr983=) c.3048A>C (p.Thr1016=) c.*2976A>C (n.*2976A>C) c.2106+182617A>C (n.2106+182617A>C) n.39A>C | gnomAD v4 |
3 | g.184327324A>G | CA437330524 | EIF2B5,EIF4G1 | c.3537A>G (p.Thr1179=) c.3471A>G (p.Thr1157=) c.2884A>G (n.2884A>G) c.2940A>G (p.Thr980=) c.3540A>G (p.Thr1180=) c.3045A>G (p.Thr1015=) c.3558A>G (p.Thr1186=) c.3276A>G (p.Thr1092=) c.3420A>G (p.Thr1140=) c.3417A>G (p.Thr1139=) c.3279A>G (p.Thr1093=) c.2952A>G (p.Thr984=) c.2949A>G (p.Thr983=) c.3048A>G (p.Thr1016=) c.*2976A>G (n.*2976A>G) c.2106+182617A>G (n.2106+182617A>G) n.39A>G | |
3 | g.184327324A>T | CA437330525 | EIF2B5,EIF4G1 | c.3537A>T (p.Thr1179=) c.3471A>T (p.Thr1157=) c.2884A>T (n.2884A>T) c.2940A>T (p.Thr980=) c.3540A>T (p.Thr1180=) c.3045A>T (p.Thr1015=) c.3558A>T (p.Thr1186=) c.3276A>T (p.Thr1092=) c.3420A>T (p.Thr1140=) c.3417A>T (p.Thr1139=) c.3279A>T (p.Thr1093=) c.2952A>T (p.Thr984=) c.2949A>T (p.Thr983=) c.3048A>T (p.Thr1016=) c.*2976A>T (n.*2976A>T) c.2106+182617A>T (n.2106+182617A>T) n.39A>T | gnomAD v4 |
3 | g.184327325C>A | CA355414819 | EIF2B5,EIF4G1 | c.3538C>A (p.Pro1180Thr) c.3472C>A (p.Pro1158Thr) c.2885C>A (n.2885C>A) c.2941C>A (p.Pro981Thr) c.3541C>A (p.Pro1181Thr) c.3046C>A (p.Pro1016Thr) c.3559C>A (p.Pro1187Thr) c.3277C>A (p.Pro1093Thr) c.3421C>A (p.Pro1141Thr) c.3418C>A (p.Pro1140Thr) c.3280C>A (p.Pro1094Thr) c.2953C>A (p.Pro985Thr) c.2950C>A (p.Pro984Thr) c.3049C>A (p.Pro1017Thr) c.*2977C>A (n.*2977C>A) c.2106+182618C>A (n.2106+182618C>A) n.40C>A | |
3 | g.184327325C= | CA1425958286 | EIF2B5,EIF4G1 | c.3538C= (p.Pro1180=) c.3472C= (p.Pro1158=) c.2885C= (n.2885C=) c.2941C= (p.Pro981=) c.3541C= (p.Pro1181=) c.3046C= (p.Pro1016=) c.3559C= (p.Pro1187=) c.3277C= (p.Pro1093=) c.3421C= (p.Pro1141=) c.3418C= (p.Pro1140=) c.3280C= (p.Pro1094=) c.2953C= (p.Pro985=) c.2950C= (p.Pro984=) c.3049C= (p.Pro1017=) c.*2977C= (n.*2977C=) c.2106+182618C= (n.2106+182618C=) n.40C= | |
3 | g.184327325C>G | CA355414817 | EIF2B5,EIF4G1 | c.3538C>G (p.Pro1180Ala) c.3472C>G (p.Pro1158Ala) c.2885C>G (n.2885C>G) c.2941C>G (p.Pro981Ala) c.3541C>G (p.Pro1181Ala) c.3046C>G (p.Pro1016Ala) c.3559C>G (p.Pro1187Ala) c.3277C>G (p.Pro1093Ala) c.3421C>G (p.Pro1141Ala) c.3418C>G (p.Pro1140Ala) c.3280C>G (p.Pro1094Ala) c.2953C>G (p.Pro985Ala) c.2950C>G (p.Pro984Ala) c.3049C>G (p.Pro1017Ala) c.*2977C>G (n.*2977C>G) c.2106+182618C>G (n.2106+182618C>G) n.40C>G | |
3 | g.184327325C>T | CA2732842 | EIF2B5,EIF4G1 | c.3538C>T (p.Pro1180Ser) c.3472C>T (p.Pro1158Ser) c.2885C>T (n.2885C>T) c.2941C>T (p.Pro981Ser) c.3541C>T (p.Pro1181Ser) c.3046C>T (p.Pro1016Ser) c.3559C>T (p.Pro1187Ser) c.3277C>T (p.Pro1093Ser) c.3421C>T (p.Pro1141Ser) c.3418C>T (p.Pro1140Ser) c.3280C>T (p.Pro1094Ser) c.2953C>T (p.Pro985Ser) c.2950C>T (p.Pro984Ser) c.3049C>T (p.Pro1017Ser) c.*2977C>T (n.*2977C>T) c.2106+182618C>T (n.2106+182618C>T) n.40C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.184327326C>A | CA355414823 | EIF2B5,EIF4G1 | c.3539C>A (p.Pro1180His) c.3473C>A (p.Pro1158His) c.2886C>A (n.2886C>A) c.2942C>A (p.Pro981His) c.3542C>A (p.Pro1181His) c.3047C>A (p.Pro1016His) c.3560C>A (p.Pro1187His) c.3278C>A (p.Pro1093His) c.3422C>A (p.Pro1141His) c.3419C>A (p.Pro1140His) c.3281C>A (p.Pro1094His) c.2954C>A (p.Pro985His) c.2951C>A (p.Pro984His) c.3050C>A (p.Pro1017His) c.*2978C>A (n.*2978C>A) c.2106+182619C>A (n.2106+182619C>A) n.41C>A | |
3 | g.184327326C>G | CA355414828 | EIF2B5,EIF4G1 | c.3539C>G (p.Pro1180Arg) c.3473C>G (p.Pro1158Arg) c.2886C>G (n.2886C>G) c.2942C>G (p.Pro981Arg) c.3542C>G (p.Pro1181Arg) c.3047C>G (p.Pro1016Arg) c.3560C>G (p.Pro1187Arg) c.3278C>G (p.Pro1093Arg) c.3422C>G (p.Pro1141Arg) c.3419C>G (p.Pro1140Arg) c.3281C>G (p.Pro1094Arg) c.2954C>G (p.Pro985Arg) c.2951C>G (p.Pro984Arg) c.3050C>G (p.Pro1017Arg) c.*2978C>G (n.*2978C>G) c.2106+182619C>G (n.2106+182619C>G) n.41C>G | |
3 | g.184327326C>T | CA355414833 | EIF2B5,EIF4G1 | c.3539C>T (p.Pro1180Leu) c.3473C>T (p.Pro1158Leu) c.2886C>T (n.2886C>T) c.2942C>T (p.Pro981Leu) c.3542C>T (p.Pro1181Leu) c.3047C>T (p.Pro1016Leu) c.3560C>T (p.Pro1187Leu) c.3278C>T (p.Pro1093Leu) c.3422C>T (p.Pro1141Leu) c.3419C>T (p.Pro1140Leu) c.3281C>T (p.Pro1094Leu) c.2954C>T (p.Pro985Leu) c.2951C>T (p.Pro984Leu) c.3050C>T (p.Pro1017Leu) c.*2978C>T (n.*2978C>T) c.2106+182619C>T (n.2106+182619C>T) n.41C>T | |
3 | g.184327328_184327330del | CA2577978169 | EIF2B5,EIF4G1 | c.3541_3543del (p.Ala1181del) c.3475_3477del (p.Ala1159del) c.2888_2890del (n.2888_2890del) c.2944_2946del (p.Ala982del) c.3544_3546del (p.Ala1182del) c.3049_3051del (p.Ala1017del) c.3562_3564del (p.Ala1188del) c.3280_3282del (p.Ala1094del) c.3424_3426del (p.Ala1142del) c.3421_3423del (p.Ala1141del) c.3283_3285del (p.Ala1095del) c.2956_2958del (p.Ala986del) c.2953_2955del (p.Ala985del) c.3052_3054del (p.Ala1018del) c.*2980_*2982del (n.*2980_*2982del) c.2106+182621_2106+182623del (n.2106+182621_2106+182623del) n.43_45del | |
3 | g.184327327T>A | CA437330531 | EIF2B5,EIF4G1 | c.3540T>A (p.Pro1180=) c.3474T>A (p.Pro1158=) c.2887T>A (n.2887T>A) c.2943T>A (p.Pro981=) c.3543T>A (p.Pro1181=) c.3048T>A (p.Pro1016=) c.3561T>A (p.Pro1187=) c.3279T>A (p.Pro1093=) c.3423T>A (p.Pro1141=) c.3420T>A (p.Pro1140=) c.3282T>A (p.Pro1094=) c.2955T>A (p.Pro985=) c.2952T>A (p.Pro984=) c.3051T>A (p.Pro1017=) c.*2979T>A (n.*2979T>A) c.2106+182620T>A (n.2106+182620T>A) n.42T>A | |
3 | g.184327327T>C | CA437330527 | EIF2B5,EIF4G1 | c.3540T>C (p.Pro1180=) c.3474T>C (p.Pro1158=) c.2887T>C (n.2887T>C) c.2943T>C (p.Pro981=) c.3543T>C (p.Pro1181=) c.3048T>C (p.Pro1016=) c.3561T>C (p.Pro1187=) c.3279T>C (p.Pro1093=) c.3423T>C (p.Pro1141=) c.3420T>C (p.Pro1140=) c.3282T>C (p.Pro1094=) c.2955T>C (p.Pro985=) c.2952T>C (p.Pro984=) c.3051T>C (p.Pro1017=) c.*2979T>C (n.*2979T>C) c.2106+182620T>C (n.2106+182620T>C) n.42T>C | |
3 | g.184327327T>G | CA437330529 | EIF2B5,EIF4G1 | c.3540T>G (p.Pro1180=) c.3474T>G (p.Pro1158=) c.2887T>G (n.2887T>G) c.2943T>G (p.Pro981=) c.3543T>G (p.Pro1181=) c.3048T>G (p.Pro1016=) c.3561T>G (p.Pro1187=) c.3279T>G (p.Pro1093=) c.3423T>G (p.Pro1141=) c.3420T>G (p.Pro1140=) c.3282T>G (p.Pro1094=) c.2955T>G (p.Pro985=) c.2952T>G (p.Pro984=) c.3051T>G (p.Pro1017=) c.*2979T>G (n.*2979T>G) c.2106+182620T>G (n.2106+182620T>G) n.42T>G | |
3 | g.184327328G>A | CA355414836 | EIF2B5,EIF4G1 | c.3541G>A (p.Ala1181Thr) c.3475G>A (p.Ala1159Thr) c.2888G>A (n.2888G>A) c.2944G>A (p.Ala982Thr) c.3544G>A (p.Ala1182Thr) c.3049G>A (p.Ala1017Thr) c.3562G>A (p.Ala1188Thr) c.3280G>A (p.Ala1094Thr) c.3424G>A (p.Ala1142Thr) c.3421G>A (p.Ala1141Thr) c.3283G>A (p.Ala1095Thr) c.2956G>A (p.Ala986Thr) c.2953G>A (p.Ala985Thr) c.3052G>A (p.Ala1018Thr) c.*2980G>A (n.*2980G>A) c.2106+182621G>A (n.2106+182621G>A) n.43G>A | dbSNP |
3 | g.184327328G>C | CA355414843 | EIF2B5,EIF4G1 | c.3541G>C (p.Ala1181Pro) c.3475G>C (p.Ala1159Pro) c.2888G>C (n.2888G>C) c.2944G>C (p.Ala982Pro) c.3544G>C (p.Ala1182Pro) c.3049G>C (p.Ala1017Pro) c.3562G>C (p.Ala1188Pro) c.3280G>C (p.Ala1094Pro) c.3424G>C (p.Ala1142Pro) c.3421G>C (p.Ala1141Pro) c.3283G>C (p.Ala1095Pro) c.2956G>C (p.Ala986Pro) c.2953G>C (p.Ala985Pro) c.3052G>C (p.Ala1018Pro) c.*2980G>C (n.*2980G>C) c.2106+182621G>C (n.2106+182621G>C) n.43G>C | dbSNP gnomAD v3 gnomAD v4 |
3 | g.184327328G= | CA1425958290 | EIF2B5,EIF4G1 | c.3541G= (p.Ala1181=) c.3475G= (p.Ala1159=) c.2888G= (n.2888G=) c.2944G= (p.Ala982=) c.3544G= (p.Ala1182=) c.3049G= (p.Ala1017=) c.3562G= (p.Ala1188=) c.3280G= (p.Ala1094=) c.3424G= (p.Ala1142=) c.3421G= (p.Ala1141=) c.3283G= (p.Ala1095=) c.2956G= (p.Ala986=) c.2953G= (p.Ala985=) c.3052G= (p.Ala1018=) c.*2980G= (n.*2980G=) c.2106+182621G= (n.2106+182621G=) n.43G= | |
3 | g.184327328G>T | CA355414846 | EIF2B5,EIF4G1 | c.3541G>T (p.Ala1181Ser) c.3475G>T (p.Ala1159Ser) c.2888G>T (n.2888G>T) c.2944G>T (p.Ala982Ser) c.3544G>T (p.Ala1182Ser) c.3049G>T (p.Ala1017Ser) c.3562G>T (p.Ala1188Ser) c.3280G>T (p.Ala1094Ser) c.3424G>T (p.Ala1142Ser) c.3421G>T (p.Ala1141Ser) c.3283G>T (p.Ala1095Ser) c.2956G>T (p.Ala986Ser) c.2953G>T (p.Ala985Ser) c.3052G>T (p.Ala1018Ser) c.*2980G>T (n.*2980G>T) c.2106+182621G>T (n.2106+182621G>T) n.43G>T | |
3 | g.184327329C>A | CA2732843 | EIF2B5,EIF4G1 | c.3542C>A (p.Ala1181Asp) c.3476C>A (p.Ala1159Asp) c.2889C>A (n.2889C>A) c.2945C>A (p.Ala982Asp) c.3545C>A (p.Ala1182Asp) c.3050C>A (p.Ala1017Asp) c.3563C>A (p.Ala1188Asp) c.3281C>A (p.Ala1094Asp) c.3425C>A (p.Ala1142Asp) c.3422C>A (p.Ala1141Asp) c.3284C>A (p.Ala1095Asp) c.2957C>A (p.Ala986Asp) c.2954C>A (p.Ala985Asp) c.3053C>A (p.Ala1018Asp) c.*2981C>A (n.*2981C>A) c.2106+182622C>A (n.2106+182622C>A) n.44C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.184327329C= | CA1425958294 | EIF2B5,EIF4G1 | c.3542C= (p.Ala1181=) c.3476C= (p.Ala1159=) c.2889C= (n.2889C=) c.2945C= (p.Ala982=) c.3545C= (p.Ala1182=) c.3050C= (p.Ala1017=) c.3563C= (p.Ala1188=) c.3281C= (p.Ala1094=) c.3425C= (p.Ala1142=) c.3422C= (p.Ala1141=) c.3284C= (p.Ala1095=) c.2957C= (p.Ala986=) c.2954C= (p.Ala985=) c.3053C= (p.Ala1018=) c.*2981C= (n.*2981C=) c.2106+182622C= (n.2106+182622C=) n.44C= | |
3 | g.184327329C>G | CA2732844 | EIF2B5,EIF4G1 | c.3542C>G (p.Ala1181Gly) c.3476C>G (p.Ala1159Gly) c.2889C>G (n.2889C>G) c.2945C>G (p.Ala982Gly) c.3545C>G (p.Ala1182Gly) c.3050C>G (p.Ala1017Gly) c.3563C>G (p.Ala1188Gly) c.3281C>G (p.Ala1094Gly) c.3425C>G (p.Ala1142Gly) c.3422C>G (p.Ala1141Gly) c.3284C>G (p.Ala1095Gly) c.2957C>G (p.Ala986Gly) c.2954C>G (p.Ala985Gly) c.3053C>G (p.Ala1018Gly) c.*2981C>G (n.*2981C>G) c.2106+182622C>G (n.2106+182622C>G) n.44C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.184327329C>T | CA355414850 | EIF2B5,EIF4G1 | c.3542C>T (p.Ala1181Val) c.3476C>T (p.Ala1159Val) c.2889C>T (n.2889C>T) c.2945C>T (p.Ala982Val) c.3545C>T (p.Ala1182Val) c.3050C>T (p.Ala1017Val) c.3563C>T (p.Ala1188Val) c.3281C>T (p.Ala1094Val) c.3425C>T (p.Ala1142Val) c.3422C>T (p.Ala1141Val) c.3284C>T (p.Ala1095Val) c.2957C>T (p.Ala986Val) c.2954C>T (p.Ala985Val) c.3053C>T (p.Ala1018Val) c.*2981C>T (n.*2981C>T) c.2106+182622C>T (n.2106+182622C>T) n.44C>T | |
3 | g.184327330T>A | CA437330533 | EIF2B5,EIF4G1 | c.3543T>A (p.Ala1181=) c.3477T>A (p.Ala1159=) c.2890T>A (n.2890T>A) c.2946T>A (p.Ala982=) c.3546T>A (p.Ala1182=) c.3051T>A (p.Ala1017=) c.3564T>A (p.Ala1188=) c.3282T>A (p.Ala1094=) c.3426T>A (p.Ala1142=) c.3423T>A (p.Ala1141=) c.3285T>A (p.Ala1095=) c.2958T>A (p.Ala986=) c.2955T>A (p.Ala985=) c.3054T>A (p.Ala1018=) c.*2982T>A (n.*2982T>A) c.2106+182623T>A (n.2106+182623T>A) n.45T>A | |
3 | g.184327330T>C | CA437330534 | EIF2B5,EIF4G1 | c.3543T>C (p.Ala1181=) c.3477T>C (p.Ala1159=) c.2890T>C (n.2890T>C) c.2946T>C (p.Ala982=) c.3546T>C (p.Ala1182=) c.3051T>C (p.Ala1017=) c.3564T>C (p.Ala1188=) c.3282T>C (p.Ala1094=) c.3426T>C (p.Ala1142=) c.3423T>C (p.Ala1141=) c.3285T>C (p.Ala1095=) c.2958T>C (p.Ala986=) c.2955T>C (p.Ala985=) c.3054T>C (p.Ala1018=) c.*2982T>C (n.*2982T>C) c.2106+182623T>C (n.2106+182623T>C) n.45T>C | gnomAD v4 |
3 | g.184327330T>G | CA437330535 | EIF2B5,EIF4G1 | c.3543T>G (p.Ala1181=) c.3477T>G (p.Ala1159=) c.2890T>G (n.2890T>G) c.2946T>G (p.Ala982=) c.3546T>G (p.Ala1182=) c.3051T>G (p.Ala1017=) c.3564T>G (p.Ala1188=) c.3282T>G (p.Ala1094=) c.3426T>G (p.Ala1142=) c.3423T>G (p.Ala1141=) c.3285T>G (p.Ala1095=) c.2958T>G (p.Ala986=) c.2955T>G (p.Ala985=) c.3054T>G (p.Ala1018=) c.*2982T>G (n.*2982T>G) c.2106+182623T>G (n.2106+182623T>G) n.45T>G | |
3 | g.184327331A= | CA1425958299 | EIF2B5,EIF4G1 | c.3544A= (p.Thr1182=) c.3478A= (p.Thr1160=) c.2891A= (n.2891A=) c.2947A= (p.Thr983=) c.3547A= (p.Thr1183=) c.3052A= (p.Thr1018=) c.3565A= (p.Thr1189=) c.3283A= (p.Thr1095=) c.3427A= (p.Thr1143=) c.3424A= (p.Thr1142=) c.3286A= (p.Thr1096=) c.2959A= (p.Thr987=) c.2956A= (p.Thr986=) c.3055A= (p.Thr1019=) c.*2983A= (n.*2983A=) c.2106+182624A= (n.2106+182624A=) n.46A= | |
3 | g.184327331A>C | CA355414853 | EIF2B5,EIF4G1 | c.3544A>C (p.Thr1182Pro) c.3478A>C (p.Thr1160Pro) c.2891A>C (n.2891A>C) c.2947A>C (p.Thr983Pro) c.3547A>C (p.Thr1183Pro) c.3052A>C (p.Thr1018Pro) c.3565A>C (p.Thr1189Pro) c.3283A>C (p.Thr1095Pro) c.3427A>C (p.Thr1143Pro) c.3424A>C (p.Thr1142Pro) c.3286A>C (p.Thr1096Pro) c.2959A>C (p.Thr987Pro) c.2956A>C (p.Thr986Pro) c.3055A>C (p.Thr1019Pro) c.*2983A>C (n.*2983A>C) c.2106+182624A>C (n.2106+182624A>C) n.46A>C | |
3 | g.184327331A>G | CA2732845 | EIF2B5,EIF4G1 | c.3544A>G (p.Thr1182Ala) c.3478A>G (p.Thr1160Ala) c.2891A>G (n.2891A>G) c.2947A>G (p.Thr983Ala) c.3547A>G (p.Thr1183Ala) c.3052A>G (p.Thr1018Ala) c.3565A>G (p.Thr1189Ala) c.3283A>G (p.Thr1095Ala) c.3427A>G (p.Thr1143Ala) c.3424A>G (p.Thr1142Ala) c.3286A>G (p.Thr1096Ala) c.2959A>G (p.Thr987Ala) c.2956A>G (p.Thr986Ala) c.3055A>G (p.Thr1019Ala) c.*2983A>G (n.*2983A>G) c.2106+182624A>G (n.2106+182624A>G) n.46A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.184327331A>T | CA355414864 | EIF2B5,EIF4G1 | c.3544A>T (p.Thr1182Ser) c.3478A>T (p.Thr1160Ser) c.2891A>T (n.2891A>T) c.2947A>T (p.Thr983Ser) c.3547A>T (p.Thr1183Ser) c.3052A>T (p.Thr1018Ser) c.3565A>T (p.Thr1189Ser) c.3283A>T (p.Thr1095Ser) c.3427A>T (p.Thr1143Ser) c.3424A>T (p.Thr1142Ser) c.3286A>T (p.Thr1096Ser) c.2959A>T (p.Thr987Ser) c.2956A>T (p.Thr986Ser) c.3055A>T (p.Thr1019Ser) c.*2983A>T (n.*2983A>T) c.2106+182624A>T (n.2106+182624A>T) n.46A>T | |
3 | g.184327332C>A | CA355414878 | EIF2B5,EIF4G1 | c.3545C>A (p.Thr1182Asn) c.3479C>A (p.Thr1160Asn) c.2892C>A (n.2892C>A) c.2948C>A (p.Thr983Asn) c.3548C>A (p.Thr1183Asn) c.3053C>A (p.Thr1018Asn) c.3566C>A (p.Thr1189Asn) c.3284C>A (p.Thr1095Asn) c.3428C>A (p.Thr1143Asn) c.3425C>A (p.Thr1142Asn) c.3287C>A (p.Thr1096Asn) c.2960C>A (p.Thr987Asn) c.2957C>A (p.Thr986Asn) c.3056C>A (p.Thr1019Asn) c.*2984C>A (n.*2984C>A) c.2106+182625C>A (n.2106+182625C>A) n.47C>A | |
3 | g.184327332C>G | CA355414882 | EIF2B5,EIF4G1 | c.3545C>G (p.Thr1182Ser) c.3479C>G (p.Thr1160Ser) c.2892C>G (n.2892C>G) c.2948C>G (p.Thr983Ser) c.3548C>G (p.Thr1183Ser) c.3053C>G (p.Thr1018Ser) c.3566C>G (p.Thr1189Ser) c.3284C>G (p.Thr1095Ser) c.3428C>G (p.Thr1143Ser) c.3425C>G (p.Thr1142Ser) c.3287C>G (p.Thr1096Ser) c.2960C>G (p.Thr987Ser) c.2957C>G (p.Thr986Ser) c.3056C>G (p.Thr1019Ser) c.*2984C>G (n.*2984C>G) c.2106+182625C>G (n.2106+182625C>G) n.47C>G | |
3 | g.184327332C>T | CA355414868 | EIF2B5,EIF4G1 | c.3545C>T (p.Thr1182Ile) c.3479C>T (p.Thr1160Ile) c.2892C>T (n.2892C>T) c.2948C>T (p.Thr983Ile) c.3548C>T (p.Thr1183Ile) c.3053C>T (p.Thr1018Ile) c.3566C>T (p.Thr1189Ile) c.3284C>T (p.Thr1095Ile) c.3428C>T (p.Thr1143Ile) c.3425C>T (p.Thr1142Ile) c.3287C>T (p.Thr1096Ile) c.2960C>T (p.Thr987Ile) c.2957C>T (p.Thr986Ile) c.3056C>T (p.Thr1019Ile) c.*2984C>T (n.*2984C>T) c.2106+182625C>T (n.2106+182625C>T) n.47C>T | gnomAD v4 |
3 | g.184327333C>A | CA437330536 | EIF2B5,EIF4G1 | c.3546C>A (p.Thr1182=) c.3480C>A (p.Thr1160=) c.2893C>A (n.2893C>A) c.2949C>A (p.Thr983=) c.3549C>A (p.Thr1183=) c.3054C>A (p.Thr1018=) c.3567C>A (p.Thr1189=) c.3285C>A (p.Thr1095=) c.3429C>A (p.Thr1143=) c.3426C>A (p.Thr1142=) c.3288C>A (p.Thr1096=) c.2961C>A (p.Thr987=) c.2958C>A (p.Thr986=) c.3057C>A (p.Thr1019=) c.*2985C>A (n.*2985C>A) c.2106+182626C>A (n.2106+182626C>A) n.48C>A | |
3 | g.184327333C>G | CA437330537 | EIF2B5,EIF4G1 | c.3546C>G (p.Thr1182=) c.3480C>G (p.Thr1160=) c.2893C>G (n.2893C>G) c.2949C>G (p.Thr983=) c.3549C>G (p.Thr1183=) c.3054C>G (p.Thr1018=) c.3567C>G (p.Thr1189=) c.3285C>G (p.Thr1095=) c.3429C>G (p.Thr1143=) c.3426C>G (p.Thr1142=) c.3288C>G (p.Thr1096=) c.2961C>G (p.Thr987=) c.2958C>G (p.Thr986=) c.3057C>G (p.Thr1019=) c.*2985C>G (n.*2985C>G) c.2106+182626C>G (n.2106+182626C>G) n.48C>G | |
3 | g.184327333C>T | CA437330539 | EIF2B5,EIF4G1 | c.3546C>T (p.Thr1182=) c.3480C>T (p.Thr1160=) c.2893C>T (n.2893C>T) c.2949C>T (p.Thr983=) c.3549C>T (p.Thr1183=) c.3054C>T (p.Thr1018=) c.3567C>T (p.Thr1189=) c.3285C>T (p.Thr1095=) c.3429C>T (p.Thr1143=) c.3426C>T (p.Thr1142=) c.3288C>T (p.Thr1096=) c.2961C>T (p.Thr987=) c.2958C>T (p.Thr986=) c.3057C>T (p.Thr1019=) c.*2985C>T (n.*2985C>T) c.2106+182626C>T (n.2106+182626C>T) n.48C>T | |
3 | g.184327334A>C | CA355414883 | EIF2B5,EIF4G1 | c.3547A>C (p.Lys1183Gln) c.3481A>C (p.Lys1161Gln) c.2894A>C (n.2894A>C) c.2950A>C (p.Lys984Gln) c.3550A>C (p.Lys1184Gln) c.3055A>C (p.Lys1019Gln) c.3568A>C (p.Lys1190Gln) c.3286A>C (p.Lys1096Gln) c.3430A>C (p.Lys1144Gln) c.3427A>C (p.Lys1143Gln) c.3289A>C (p.Lys1097Gln) c.2962A>C (p.Lys988Gln) c.2959A>C (p.Lys987Gln) c.3058A>C (p.Lys1020Gln) c.*2986A>C (n.*2986A>C) c.2106+182627A>C (n.2106+182627A>C) n.49A>C | |
3 | g.184327334A>G | CA355414884 | EIF2B5,EIF4G1 | c.3547A>G (p.Lys1183Glu) c.3481A>G (p.Lys1161Glu) c.2894A>G (n.2894A>G) c.2950A>G (p.Lys984Glu) c.3550A>G (p.Lys1184Glu) c.3055A>G (p.Lys1019Glu) c.3568A>G (p.Lys1190Glu) c.3286A>G (p.Lys1096Glu) c.3430A>G (p.Lys1144Glu) c.3427A>G (p.Lys1143Glu) c.3289A>G (p.Lys1097Glu) c.2962A>G (p.Lys988Glu) c.2959A>G (p.Lys987Glu) c.3058A>G (p.Lys1020Glu) c.*2986A>G (n.*2986A>G) c.2106+182627A>G (n.2106+182627A>G) n.49A>G | |
3 | g.184327334A>T | CA355414885 | EIF2B5,EIF4G1 | c.3547A>T (p.Lys1183Ter) c.3481A>T (p.Lys1161Ter) c.2894A>T (n.2894A>T) c.2950A>T (p.Lys984Ter) c.3550A>T (p.Lys1184Ter) c.3055A>T (p.Lys1019Ter) c.3568A>T (p.Lys1190Ter) c.3286A>T (p.Lys1096Ter) c.3430A>T (p.Lys1144Ter) c.3427A>T (p.Lys1143Ter) c.3289A>T (p.Lys1097Ter) c.2962A>T (p.Lys988Ter) c.2959A>T (p.Lys987Ter) c.3058A>T (p.Lys1020Ter) c.*2986A>T (n.*2986A>T) c.2106+182627A>T (n.2106+182627A>T) n.49A>T | |
3 | g.184327335A>C | CA355414887 | EIF2B5,EIF4G1 | c.3548A>C (p.Lys1183Thr) c.3482A>C (p.Lys1161Thr) c.2895A>C (n.2895A>C) c.2951A>C (p.Lys984Thr) c.3551A>C (p.Lys1184Thr) c.3056A>C (p.Lys1019Thr) c.3569A>C (p.Lys1190Thr) c.3287A>C (p.Lys1096Thr) c.3431A>C (p.Lys1144Thr) c.3428A>C (p.Lys1143Thr) c.3290A>C (p.Lys1097Thr) c.2963A>C (p.Lys988Thr) c.2960A>C (p.Lys987Thr) c.3059A>C (p.Lys1020Thr) c.*2987A>C (n.*2987A>C) c.2106+182628A>C (n.2106+182628A>C) n.50A>C | |
3 | g.184327335A>G | CA355414889 | EIF2B5,EIF4G1 | c.3548A>G (p.Lys1183Arg) c.3482A>G (p.Lys1161Arg) c.2895A>G (n.2895A>G) c.2951A>G (p.Lys984Arg) c.3551A>G (p.Lys1184Arg) c.3056A>G (p.Lys1019Arg) c.3569A>G (p.Lys1190Arg) c.3287A>G (p.Lys1096Arg) c.3431A>G (p.Lys1144Arg) c.3428A>G (p.Lys1143Arg) c.3290A>G (p.Lys1097Arg) c.2963A>G (p.Lys988Arg) c.2960A>G (p.Lys987Arg) c.3059A>G (p.Lys1020Arg) c.*2987A>G (n.*2987A>G) c.2106+182628A>G (n.2106+182628A>G) n.50A>G | |
3 | g.184327335A>T | CA355414893 | EIF2B5,EIF4G1 | c.3548A>T (p.Lys1183Met) c.3482A>T (p.Lys1161Met) c.2895A>T (n.2895A>T) c.2951A>T (p.Lys984Met) c.3551A>T (p.Lys1184Met) c.3056A>T (p.Lys1019Met) c.3569A>T (p.Lys1190Met) c.3287A>T (p.Lys1096Met) c.3431A>T (p.Lys1144Met) c.3428A>T (p.Lys1143Met) c.3290A>T (p.Lys1097Met) c.2963A>T (p.Lys988Met) c.2960A>T (p.Lys987Met) c.3059A>T (p.Lys1020Met) c.*2987A>T (n.*2987A>T) c.2106+182628A>T (n.2106+182628A>T) n.50A>T | |
3 | g.184327336G>A | CA437330542 | EIF2B5,EIF4G1 | c.3549G>A (p.Lys1183=) c.3483G>A (p.Lys1161=) c.2896G>A (n.2896G>A) c.2952G>A (p.Lys984=) c.3552G>A (p.Lys1184=) c.3057G>A (p.Lys1019=) c.3570G>A (p.Lys1190=) c.3288G>A (p.Lys1096=) c.3432G>A (p.Lys1144=) c.3429G>A (p.Lys1143=) c.3291G>A (p.Lys1097=) c.2964G>A (p.Lys988=) c.2961G>A (p.Lys987=) c.3060G>A (p.Lys1020=) c.*2988G>A (n.*2988G>A) c.2106+182629G>A (n.2106+182629G>A) n.51G>A | dbSNP gnomAD v2 gnomAD v4 |
3 | g.184327336G>C | CA355414895 | EIF2B5,EIF4G1 | c.3549G>C (p.Lys1183Asn) c.3483G>C (p.Lys1161Asn) c.2896G>C (n.2896G>C) c.2952G>C (p.Lys984Asn) c.3552G>C (p.Lys1184Asn) c.3057G>C (p.Lys1019Asn) c.3570G>C (p.Lys1190Asn) c.3288G>C (p.Lys1096Asn) c.3432G>C (p.Lys1144Asn) c.3429G>C (p.Lys1143Asn) c.3291G>C (p.Lys1097Asn) c.2964G>C (p.Lys988Asn) c.2961G>C (p.Lys987Asn) c.3060G>C (p.Lys1020Asn) c.*2988G>C (n.*2988G>C) c.2106+182629G>C (n.2106+182629G>C) n.51G>C | |
3 | g.184327336G= | CA1425958301 | EIF2B5,EIF4G1 | c.3549G= (p.Lys1183=) c.3483G= (p.Lys1161=) c.2896G= (n.2896G=) c.2952G= (p.Lys984=) c.3552G= (p.Lys1184=) c.3057G= (p.Lys1019=) c.3570G= (p.Lys1190=) c.3288G= (p.Lys1096=) c.3432G= (p.Lys1144=) c.3429G= (p.Lys1143=) c.3291G= (p.Lys1097=) c.2964G= (p.Lys988=) c.2961G= (p.Lys987=) c.3060G= (p.Lys1020=) c.*2988G= (n.*2988G=) c.2106+182629G= (n.2106+182629G=) n.51G= | |
3 | g.184327336G>T | CA355414897 | EIF2B5,EIF4G1 | c.3549G>T (p.Lys1183Asn) c.3483G>T (p.Lys1161Asn) c.2896G>T (n.2896G>T) c.2952G>T (p.Lys984Asn) c.3552G>T (p.Lys1184Asn) c.3057G>T (p.Lys1019Asn) c.3570G>T (p.Lys1190Asn) c.3288G>T (p.Lys1096Asn) c.3432G>T (p.Lys1144Asn) c.3429G>T (p.Lys1143Asn) c.3291G>T (p.Lys1097Asn) c.2964G>T (p.Lys988Asn) c.2961G>T (p.Lys987Asn) c.3060G>T (p.Lys1020Asn) c.*2988G>T (n.*2988G>T) c.2106+182629G>T (n.2106+182629G>T) n.51G>T | |
3 | g.184327337C>A | CA437330544 | EIF2B5,EIF4G1 | c.3550C>A (p.Arg1184=) c.3484C>A (p.Arg1162=) c.2897C>A (n.2897C>A) c.2953C>A (p.Arg985=) c.3553C>A (p.Arg1185=) c.3058C>A (p.Arg1020=) c.3571C>A (p.Arg1191=) c.3289C>A (p.Arg1097=) c.3433C>A (p.Arg1145=) c.3430C>A (p.Arg1144=) c.3292C>A (p.Arg1098=) c.2965C>A (p.Arg989=) c.2962C>A (p.Arg988=) c.3061C>A (p.Arg1021=) c.*2989C>A (n.*2989C>A) c.2106+182630C>A (n.2106+182630C>A) n.52C>A | |
3 | g.184327337C= | CA1425958306 | EIF2B5,EIF4G1 | c.3550C= (p.Arg1184=) c.3484C= (p.Arg1162=) c.2897C= (n.2897C=) c.2953C= (p.Arg985=) c.3553C= (p.Arg1185=) c.3058C= (p.Arg1020=) c.3571C= (p.Arg1191=) c.3289C= (p.Arg1097=) c.3433C= (p.Arg1145=) c.3430C= (p.Arg1144=) c.3292C= (p.Arg1098=) c.2965C= (p.Arg989=) c.2962C= (p.Arg988=) c.3061C= (p.Arg1021=) c.*2989C= (n.*2989C=) c.2106+182630C= (n.2106+182630C=) n.52C= | |
3 | g.184327337C>G | CA355414902 | EIF2B5,EIF4G1 | c.3550C>G (p.Arg1184Gly) c.3484C>G (p.Arg1162Gly) c.2897C>G (n.2897C>G) c.2953C>G (p.Arg985Gly) c.3553C>G (p.Arg1185Gly) c.3058C>G (p.Arg1020Gly) c.3571C>G (p.Arg1191Gly) c.3289C>G (p.Arg1097Gly) c.3433C>G (p.Arg1145Gly) c.3430C>G (p.Arg1144Gly) c.3292C>G (p.Arg1098Gly) c.2965C>G (p.Arg989Gly) c.2962C>G (p.Arg988Gly) c.3061C>G (p.Arg1021Gly) c.*2989C>G (n.*2989C>G) c.2106+182630C>G (n.2106+182630C>G) n.52C>G | |
3 | g.184327337C>T | CA355414904 | EIF2B5,EIF4G1 | c.3550C>T (p.Arg1184Trp) c.3484C>T (p.Arg1162Trp) c.2897C>T (n.2897C>T) c.2953C>T (p.Arg985Trp) c.3553C>T (p.Arg1185Trp) c.3058C>T (p.Arg1020Trp) c.3571C>T (p.Arg1191Trp) c.3289C>T (p.Arg1097Trp) c.3433C>T (p.Arg1145Trp) c.3430C>T (p.Arg1144Trp) c.3292C>T (p.Arg1098Trp) c.2965C>T (p.Arg989Trp) c.2962C>T (p.Arg988Trp) c.3061C>T (p.Arg1021Trp) c.*2989C>T (n.*2989C>T) c.2106+182630C>T (n.2106+182630C>T) n.52C>T | ClinVar dbSNP gnomAD v4 |
3 | g.184327338G>A | CA2732846 | EIF2B5,EIF4G1 | c.3551G>A (p.Arg1184Gln) c.3485G>A (p.Arg1162Gln) c.2898G>A (n.2898G>A) c.2954G>A (p.Arg985Gln) c.3554G>A (p.Arg1185Gln) c.3059G>A (p.Arg1020Gln) c.3572G>A (p.Arg1191Gln) c.3290G>A (p.Arg1097Gln) c.3434G>A (p.Arg1145Gln) c.3431G>A (p.Arg1144Gln) c.3293G>A (p.Arg1098Gln) c.2966G>A (p.Arg989Gln) c.2963G>A (p.Arg988Gln) c.3062G>A (p.Arg1021Gln) c.*2990G>A (n.*2990G>A) c.2106+182631G>A (n.2106+182631G>A) n.53G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
3 | g.184327338G>C | CA355414911 | EIF2B5,EIF4G1 | c.3551G>C (p.Arg1184Pro) c.3485G>C (p.Arg1162Pro) c.2898G>C (n.2898G>C) c.2954G>C (p.Arg985Pro) c.3554G>C (p.Arg1185Pro) c.3059G>C (p.Arg1020Pro) c.3572G>C (p.Arg1191Pro) c.3290G>C (p.Arg1097Pro) c.3434G>C (p.Arg1145Pro) c.3431G>C (p.Arg1144Pro) c.3293G>C (p.Arg1098Pro) c.2966G>C (p.Arg989Pro) c.2963G>C (p.Arg988Pro) c.3062G>C (p.Arg1021Pro) c.*2990G>C (n.*2990G>C) c.2106+182631G>C (n.2106+182631G>C) n.53G>C | |
3 | g.184327338G= | CA1425958309 | EIF2B5,EIF4G1 | c.3551G= (p.Arg1184=) c.3485G= (p.Arg1162=) c.2898G= (n.2898G=) c.2954G= (p.Arg985=) c.3554G= (p.Arg1185=) c.3059G= (p.Arg1020=) c.3572G= (p.Arg1191=) c.3290G= (p.Arg1097=) c.3434G= (p.Arg1145=) c.3431G= (p.Arg1144=) c.3293G= (p.Arg1098=) c.2966G= (p.Arg989=) c.2963G= (p.Arg988=) c.3062G= (p.Arg1021=) c.*2990G= (n.*2990G=) c.2106+182631G= (n.2106+182631G=) n.53G= | |
3 | g.184327338G>T | CA355414914 | EIF2B5,EIF4G1 | c.3551G>T (p.Arg1184Leu) c.3485G>T (p.Arg1162Leu) c.2898G>T (n.2898G>T) c.2954G>T (p.Arg985Leu) c.3554G>T (p.Arg1185Leu) c.3059G>T (p.Arg1020Leu) c.3572G>T (p.Arg1191Leu) c.3290G>T (p.Arg1097Leu) c.3434G>T (p.Arg1145Leu) c.3431G>T (p.Arg1144Leu) c.3293G>T (p.Arg1098Leu) c.2966G>T (p.Arg989Leu) c.2963G>T (p.Arg988Leu) c.3062G>T (p.Arg1021Leu) c.*2990G>T (n.*2990G>T) c.2106+182631G>T (n.2106+182631G>T) n.53G>T | |
3 | g.184327339G>A | CA437330546 | EIF2B5,EIF4G1 | c.3552G>A (p.Arg1184=) c.3486G>A (p.Arg1162=) c.2899G>A (n.2899G>A) c.2955G>A (p.Arg985=) c.3555G>A (p.Arg1185=) c.3060G>A (p.Arg1020=) c.3573G>A (p.Arg1191=) c.3291G>A (p.Arg1097=) c.3435G>A (p.Arg1145=) c.3432G>A (p.Arg1144=) c.3294G>A (p.Arg1098=) c.2967G>A (p.Arg989=) c.2964G>A (p.Arg988=) c.3063G>A (p.Arg1021=) c.*2991G>A (n.*2991G>A) c.2106+182632G>A (n.2106+182632G>A) n.54G>A | |
3 | g.184327339G>C | CA437330547 | EIF2B5,EIF4G1 | c.3552G>C (p.Arg1184=) c.3486G>C (p.Arg1162=) c.2899G>C (n.2899G>C) c.2955G>C (p.Arg985=) c.3555G>C (p.Arg1185=) c.3060G>C (p.Arg1020=) c.3573G>C (p.Arg1191=) c.3291G>C (p.Arg1097=) c.3435G>C (p.Arg1145=) c.3432G>C (p.Arg1144=) c.3294G>C (p.Arg1098=) c.2967G>C (p.Arg989=) c.2964G>C (p.Arg988=) c.3063G>C (p.Arg1021=) c.*2991G>C (n.*2991G>C) c.2106+182632G>C (n.2106+182632G>C) n.54G>C | |
3 | g.184327339G= | CA1425958312 | EIF2B5,EIF4G1 | c.3552G= (p.Arg1184=) c.3486G= (p.Arg1162=) c.2899G= (n.2899G=) c.2955G= (p.Arg985=) c.3555G= (p.Arg1185=) c.3060G= (p.Arg1020=) c.3573G= (p.Arg1191=) c.3291G= (p.Arg1097=) c.3435G= (p.Arg1145=) c.3432G= (p.Arg1144=) c.3294G= (p.Arg1098=) c.2967G= (p.Arg989=) c.2964G= (p.Arg988=) c.3063G= (p.Arg1021=) c.*2991G= (n.*2991G=) c.2106+182632G= (n.2106+182632G=) n.54G= | |
3 | g.184327339G>T | CA437330548 | EIF2B5,EIF4G1 | c.3552G>T (p.Arg1184=) c.3486G>T (p.Arg1162=) c.2899G>T (n.2899G>T) c.2955G>T (p.Arg985=) c.3555G>T (p.Arg1185=) c.3060G>T (p.Arg1020=) c.3573G>T (p.Arg1191=) c.3291G>T (p.Arg1097=) c.3435G>T (p.Arg1145=) c.3432G>T (p.Arg1144=) c.3294G>T (p.Arg1098=) c.2967G>T (p.Arg989=) c.2964G>T (p.Arg988=) c.3063G>T (p.Arg1021=) c.*2991G>T (n.*2991G>T) c.2106+182632G>T (n.2106+182632G>T) n.54G>T | dbSNP gnomAD v4 |
3 | g.184327340A>C | CA355414921 | EIF2B5,EIF4G1 | c.3553A>C (p.Ser1185Arg) c.3487A>C (p.Ser1163Arg) c.2900A>C (n.2900A>C) c.2956A>C (p.Ser986Arg) c.3556A>C (p.Ser1186Arg) c.3061A>C (p.Ser1021Arg) c.3574A>C (p.Ser1192Arg) c.3292A>C (p.Ser1098Arg) c.3436A>C (p.Ser1146Arg) c.3433A>C (p.Ser1145Arg) c.3295A>C (p.Ser1099Arg) c.2968A>C (p.Ser990Arg) c.2965A>C (p.Ser989Arg) c.3064A>C (p.Ser1022Arg) c.*2992A>C (n.*2992A>C) c.2106+182633A>C (n.2106+182633A>C) n.55A>C | |
3 | g.184327340A>G | CA355414918 | EIF2B5,EIF4G1 | c.3553A>G (p.Ser1185Gly) c.3487A>G (p.Ser1163Gly) c.2900A>G (n.2900A>G) c.2956A>G (p.Ser986Gly) c.3556A>G (p.Ser1186Gly) c.3061A>G (p.Ser1021Gly) c.3574A>G (p.Ser1192Gly) c.3292A>G (p.Ser1098Gly) c.3436A>G (p.Ser1146Gly) c.3433A>G (p.Ser1145Gly) c.3295A>G (p.Ser1099Gly) c.2968A>G (p.Ser990Gly) c.2965A>G (p.Ser989Gly) c.3064A>G (p.Ser1022Gly) c.*2992A>G (n.*2992A>G) c.2106+182633A>G (n.2106+182633A>G) n.55A>G | gnomAD v4 |
3 | g.184327340A>T | CA355414916 | EIF2B5,EIF4G1 | c.3553A>T (p.Ser1185Cys) c.3487A>T (p.Ser1163Cys) c.2900A>T (n.2900A>T) c.2956A>T (p.Ser986Cys) c.3556A>T (p.Ser1186Cys) c.3061A>T (p.Ser1021Cys) c.3574A>T (p.Ser1192Cys) c.3292A>T (p.Ser1098Cys) c.3436A>T (p.Ser1146Cys) c.3433A>T (p.Ser1145Cys) c.3295A>T (p.Ser1099Cys) c.2968A>T (p.Ser990Cys) c.2965A>T (p.Ser989Cys) c.3064A>T (p.Ser1022Cys) c.*2992A>T (n.*2992A>T) c.2106+182633A>T (n.2106+182633A>T) n.55A>T | |
3 | g.184327341G>A | CA88867608 | EIF2B5,EIF4G1 | c.3554G>A (p.Ser1185Asn) c.3488G>A (p.Ser1163Asn) c.2901G>A (n.2901G>A) c.2957G>A (p.Ser986Asn) c.3557G>A (p.Ser1186Asn) c.3062G>A (p.Ser1021Asn) c.3575G>A (p.Ser1192Asn) c.3293G>A (p.Ser1098Asn) c.3437G>A (p.Ser1146Asn) c.3434G>A (p.Ser1145Asn) c.3296G>A (p.Ser1099Asn) c.2969G>A (p.Ser990Asn) c.2966G>A (p.Ser989Asn) c.3065G>A (p.Ser1022Asn) c.*2993G>A (n.*2993G>A) c.2106+182634G>A (n.2106+182634G>A) n.56G>A | dbSNP |
3 | g.184327341G>C | CA355414923 | EIF2B5,EIF4G1 | c.3554G>C (p.Ser1185Thr) c.3488G>C (p.Ser1163Thr) c.2901G>C (n.2901G>C) c.2957G>C (p.Ser986Thr) c.3557G>C (p.Ser1186Thr) c.3062G>C (p.Ser1021Thr) c.3575G>C (p.Ser1192Thr) c.3293G>C (p.Ser1098Thr) c.3437G>C (p.Ser1146Thr) c.3434G>C (p.Ser1145Thr) c.3296G>C (p.Ser1099Thr) c.2969G>C (p.Ser990Thr) c.2966G>C (p.Ser989Thr) c.3065G>C (p.Ser1022Thr) c.*2993G>C (n.*2993G>C) c.2106+182634G>C (n.2106+182634G>C) n.56G>C | |
3 | g.184327341G= | CA1425958315 | EIF2B5,EIF4G1 | c.3554G= (p.Ser1185=) c.3488G= (p.Ser1163=) c.2901G= (n.2901G=) c.2957G= (p.Ser986=) c.3557G= (p.Ser1186=) c.3062G= (p.Ser1021=) c.3575G= (p.Ser1192=) c.3293G= (p.Ser1098=) c.3437G= (p.Ser1146=) c.3434G= (p.Ser1145=) c.3296G= (p.Ser1099=) c.2969G= (p.Ser990=) c.2966G= (p.Ser989=) c.3065G= (p.Ser1022=) c.*2993G= (n.*2993G=) c.2106+182634G= (n.2106+182634G=) n.56G= | |
3 | g.184327341G>T | CA355414922 | EIF2B5,EIF4G1 | c.3554G>T (p.Ser1185Ile) c.3488G>T (p.Ser1163Ile) c.2901G>T (n.2901G>T) c.2957G>T (p.Ser986Ile) c.3557G>T (p.Ser1186Ile) c.3062G>T (p.Ser1021Ile) c.3575G>T (p.Ser1192Ile) c.3293G>T (p.Ser1098Ile) c.3437G>T (p.Ser1146Ile) c.3434G>T (p.Ser1145Ile) c.3296G>T (p.Ser1099Ile) c.2969G>T (p.Ser990Ile) c.2966G>T (p.Ser989Ile) c.3065G>T (p.Ser1022Ile) c.*2993G>T (n.*2993G>T) c.2106+182634G>T (n.2106+182634G>T) n.56G>T | |
3 | g.184327342C>A | CA355414926 | EIF2B5,EIF4G1 | c.3555C>A (p.Ser1185Arg) c.3489C>A (p.Ser1163Arg) c.2902C>A (n.2902C>A) c.2958C>A (p.Ser986Arg) c.3558C>A (p.Ser1186Arg) c.3063C>A (p.Ser1021Arg) c.3576C>A (p.Ser1192Arg) c.3294C>A (p.Ser1098Arg) c.3438C>A (p.Ser1146Arg) c.3435C>A (p.Ser1145Arg) c.3297C>A (p.Ser1099Arg) c.2970C>A (p.Ser990Arg) c.2967C>A (p.Ser989Arg) c.3066C>A (p.Ser1022Arg) c.*2994C>A (n.*2994C>A) c.2106+182635C>A (n.2106+182635C>A) n.57C>A | |
3 | g.184327342C>G | CA355414928 | EIF2B5,EIF4G1 | c.3555C>G (p.Ser1185Arg) c.3489C>G (p.Ser1163Arg) c.2902C>G (n.2902C>G) c.2958C>G (p.Ser986Arg) c.3558C>G (p.Ser1186Arg) c.3063C>G (p.Ser1021Arg) c.3576C>G (p.Ser1192Arg) c.3294C>G (p.Ser1098Arg) c.3438C>G (p.Ser1146Arg) c.3435C>G (p.Ser1145Arg) c.3297C>G (p.Ser1099Arg) c.2970C>G (p.Ser990Arg) c.2967C>G (p.Ser989Arg) c.3066C>G (p.Ser1022Arg) c.*2994C>G (n.*2994C>G) c.2106+182635C>G (n.2106+182635C>G) n.57C>G | |
3 | g.184327342C>T | CA437330553 | EIF2B5,EIF4G1 | c.3555C>T (p.Ser1185=) c.3489C>T (p.Ser1163=) c.2902C>T (n.2902C>T) c.2958C>T (p.Ser986=) c.3558C>T (p.Ser1186=) c.3063C>T (p.Ser1021=) c.3576C>T (p.Ser1192=) c.3294C>T (p.Ser1098=) c.3438C>T (p.Ser1146=) c.3435C>T (p.Ser1145=) c.3297C>T (p.Ser1099=) c.2970C>T (p.Ser990=) c.2967C>T (p.Ser989=) c.3066C>T (p.Ser1022=) c.*2994C>T (n.*2994C>T) c.2106+182635C>T (n.2106+182635C>T) n.57C>T | |
3 | g.184327343T>A | CA355414933 | EIF2B5,EIF4G1 | c.3556T>A (p.Phe1186Ile) c.3490T>A (p.Phe1164Ile) c.2903T>A (n.2903T>A) c.2959T>A (p.Phe987Ile) c.3559T>A (p.Phe1187Ile) c.3064T>A (p.Phe1022Ile) c.3577T>A (p.Phe1193Ile) c.3295T>A (p.Phe1099Ile) c.3439T>A (p.Phe1147Ile) c.3436T>A (p.Phe1146Ile) c.3298T>A (p.Phe1100Ile) c.2971T>A (p.Phe991Ile) c.2968T>A (p.Phe990Ile) c.3067T>A (p.Phe1023Ile) c.*2995T>A (n.*2995T>A) c.2106+182636T>A (n.2106+182636T>A) n.58T>A | |
3 | g.184327343T>C | CA355414936 | EIF2B5,EIF4G1 | c.3556T>C (p.Phe1186Leu) c.3490T>C (p.Phe1164Leu) c.2903T>C (n.2903T>C) c.2959T>C (p.Phe987Leu) c.3559T>C (p.Phe1187Leu) c.3064T>C (p.Phe1022Leu) c.3577T>C (p.Phe1193Leu) c.3295T>C (p.Phe1099Leu) c.3439T>C (p.Phe1147Leu) c.3436T>C (p.Phe1146Leu) c.3298T>C (p.Phe1100Leu) c.2971T>C (p.Phe991Leu) c.2968T>C (p.Phe990Leu) c.3067T>C (p.Phe1023Leu) c.*2995T>C (n.*2995T>C) c.2106+182636T>C (n.2106+182636T>C) n.58T>C | |
3 | g.184327343T>G | CA355414939 | EIF2B5,EIF4G1 | c.3556T>G (p.Phe1186Val) c.3490T>G (p.Phe1164Val) c.2903T>G (n.2903T>G) c.2959T>G (p.Phe987Val) c.3559T>G (p.Phe1187Val) c.3064T>G (p.Phe1022Val) c.3577T>G (p.Phe1193Val) c.3295T>G (p.Phe1099Val) c.3439T>G (p.Phe1147Val) c.3436T>G (p.Phe1146Val) c.3298T>G (p.Phe1100Val) c.2971T>G (p.Phe991Val) c.2968T>G (p.Phe990Val) c.3067T>G (p.Phe1023Val) c.*2995T>G (n.*2995T>G) c.2106+182636T>G (n.2106+182636T>G) n.58T>G | |
3 | g.184327344T>A | CA355414940 | EIF2B5,EIF4G1 | c.3557T>A (p.Phe1186Tyr) c.3491T>A (p.Phe1164Tyr) c.2904T>A (n.2904T>A) c.2960T>A (p.Phe987Tyr) c.3560T>A (p.Phe1187Tyr) c.3065T>A (p.Phe1022Tyr) c.3578T>A (p.Phe1193Tyr) c.3296T>A (p.Phe1099Tyr) c.3440T>A (p.Phe1147Tyr) c.3437T>A (p.Phe1146Tyr) c.3299T>A (p.Phe1100Tyr) c.2972T>A (p.Phe991Tyr) c.2969T>A (p.Phe990Tyr) c.3068T>A (p.Phe1023Tyr) c.*2996T>A (n.*2996T>A) c.2106+182637T>A (n.2106+182637T>A) n.59T>A | |
3 | g.184327344T>C | CA355414941 | EIF2B5,EIF4G1 | c.3557T>C (p.Phe1186Ser) c.3491T>C (p.Phe1164Ser) c.2904T>C (n.2904T>C) c.2960T>C (p.Phe987Ser) c.3560T>C (p.Phe1187Ser) c.3065T>C (p.Phe1022Ser) c.3578T>C (p.Phe1193Ser) c.3296T>C (p.Phe1099Ser) c.3440T>C (p.Phe1147Ser) c.3437T>C (p.Phe1146Ser) c.3299T>C (p.Phe1100Ser) c.2972T>C (p.Phe991Ser) c.2969T>C (p.Phe990Ser) c.3068T>C (p.Phe1023Ser) c.*2996T>C (n.*2996T>C) c.2106+182637T>C (n.2106+182637T>C) n.59T>C | |
3 | g.184327344T>G | CA355414942 | EIF2B5,EIF4G1 | c.3557T>G (p.Phe1186Cys) c.3491T>G (p.Phe1164Cys) c.2904T>G (n.2904T>G) c.2960T>G (p.Phe987Cys) c.3560T>G (p.Phe1187Cys) c.3065T>G (p.Phe1022Cys) c.3578T>G (p.Phe1193Cys) c.3296T>G (p.Phe1099Cys) c.3440T>G (p.Phe1147Cys) c.3437T>G (p.Phe1146Cys) c.3299T>G (p.Phe1100Cys) c.2972T>G (p.Phe991Cys) c.2969T>G (p.Phe990Cys) c.3068T>G (p.Phe1023Cys) c.*2996T>G (n.*2996T>G) c.2106+182637T>G (n.2106+182637T>G) n.59T>G | |
3 | g.184327345C>A | CA355414945 | EIF2B5,EIF4G1 | c.3558C>A (p.Phe1186Leu) c.3492C>A (p.Phe1164Leu) c.2905C>A (n.2905C>A) c.2961C>A (p.Phe987Leu) c.3561C>A (p.Phe1187Leu) c.3066C>A (p.Phe1022Leu) c.3579C>A (p.Phe1193Leu) c.3297C>A (p.Phe1099Leu) c.3441C>A (p.Phe1147Leu) c.3438C>A (p.Phe1146Leu) c.3300C>A (p.Phe1100Leu) c.2973C>A (p.Phe991Leu) c.2970C>A (p.Phe990Leu) c.3069C>A (p.Phe1023Leu) c.*2997C>A (n.*2997C>A) c.2106+182638C>A (n.2106+182638C>A) n.60C>A | |
3 | g.184327345C>G | CA355414946 | EIF2B5,EIF4G1 | c.3558C>G (p.Phe1186Leu) c.3492C>G (p.Phe1164Leu) c.2905C>G (n.2905C>G) c.2961C>G (p.Phe987Leu) c.3561C>G (p.Phe1187Leu) c.3066C>G (p.Phe1022Leu) c.3579C>G (p.Phe1193Leu) c.3297C>G (p.Phe1099Leu) c.3441C>G (p.Phe1147Leu) c.3438C>G (p.Phe1146Leu) c.3300C>G (p.Phe1100Leu) c.2973C>G (p.Phe991Leu) c.2970C>G (p.Phe990Leu) c.3069C>G (p.Phe1023Leu) c.*2997C>G (n.*2997C>G) c.2106+182638C>G (n.2106+182638C>G) n.60C>G | |
3 | g.184327345C>T | CA437330557 | EIF2B5,EIF4G1 | c.3558C>T (p.Phe1186=) c.3492C>T (p.Phe1164=) c.2905C>T (n.2905C>T) c.2961C>T (p.Phe987=) c.3561C>T (p.Phe1187=) c.3066C>T (p.Phe1022=) c.3579C>T (p.Phe1193=) c.3297C>T (p.Phe1099=) c.3441C>T (p.Phe1147=) c.3438C>T (p.Phe1146=) c.3300C>T (p.Phe1100=) c.2973C>T (p.Phe991=) c.2970C>T (p.Phe990=) c.3069C>T (p.Phe1023=) c.*2997C>T (n.*2997C>T) c.2106+182638C>T (n.2106+182638C>T) n.60C>T | |
3 | g.184327346A>C | CA355414951 | EIF2B5,EIF4G1 | c.3559A>C (p.Ser1187Arg) c.3493A>C (p.Ser1165Arg) c.2906A>C (n.2906A>C) c.2962A>C (p.Ser988Arg) c.3562A>C (p.Ser1188Arg) c.3067A>C (p.Ser1023Arg) c.3580A>C (p.Ser1194Arg) c.3298A>C (p.Ser1100Arg) c.3442A>C (p.Ser1148Arg) c.3439A>C (p.Ser1147Arg) c.3301A>C (p.Ser1101Arg) c.2974A>C (p.Ser992Arg) c.2971A>C (p.Ser991Arg) c.3070A>C (p.Ser1024Arg) c.*2998A>C (n.*2998A>C) c.2106+182639A>C (n.2106+182639A>C) n.61A>C | |
3 | g.184327346A>G | CA355414954 | EIF2B5,EIF4G1 | c.3559A>G (p.Ser1187Gly) c.3493A>G (p.Ser1165Gly) c.2906A>G (n.2906A>G) c.2962A>G (p.Ser988Gly) c.3562A>G (p.Ser1188Gly) c.3067A>G (p.Ser1023Gly) c.3580A>G (p.Ser1194Gly) c.3298A>G (p.Ser1100Gly) c.3442A>G (p.Ser1148Gly) c.3439A>G (p.Ser1147Gly) c.3301A>G (p.Ser1101Gly) c.2974A>G (p.Ser992Gly) c.2971A>G (p.Ser991Gly) c.3070A>G (p.Ser1024Gly) c.*2998A>G (n.*2998A>G) c.2106+182639A>G (n.2106+182639A>G) n.61A>G | |
3 | g.184327346A>T | CA355414957 | EIF2B5,EIF4G1 | c.3559A>T (p.Ser1187Cys) c.3493A>T (p.Ser1165Cys) c.2906A>T (n.2906A>T) c.2962A>T (p.Ser988Cys) c.3562A>T (p.Ser1188Cys) c.3067A>T (p.Ser1023Cys) c.3580A>T (p.Ser1194Cys) c.3298A>T (p.Ser1100Cys) c.3442A>T (p.Ser1148Cys) c.3439A>T (p.Ser1147Cys) c.3301A>T (p.Ser1101Cys) c.2974A>T (p.Ser992Cys) c.2971A>T (p.Ser991Cys) c.3070A>T (p.Ser1024Cys) c.*2998A>T (n.*2998A>T) c.2106+182639A>T (n.2106+182639A>T) n.61A>T | |
3 | g.184327347G>A | CA355414958 | EIF2B5,EIF4G1 | c.3560G>A (p.Ser1187Asn) c.3494G>A (p.Ser1165Asn) c.2907G>A (n.2907G>A) c.2963G>A (p.Ser988Asn) c.3563G>A (p.Ser1188Asn) c.3068G>A (p.Ser1023Asn) c.3581G>A (p.Ser1194Asn) c.3299G>A (p.Ser1100Asn) c.3443G>A (p.Ser1148Asn) c.3440G>A (p.Ser1147Asn) c.3302G>A (p.Ser1101Asn) c.2975G>A (p.Ser992Asn) c.2972G>A (p.Ser991Asn) c.3071G>A (p.Ser1024Asn) c.*2999G>A (n.*2999G>A) c.2106+182640G>A (n.2106+182640G>A) n.62G>A | dbSNP gnomAD v2 gnomAD v4 |
3 | g.184327347G>C | CA355414960 | EIF2B5,EIF4G1 | c.3560G>C (p.Ser1187Thr) c.3494G>C (p.Ser1165Thr) c.2907G>C (n.2907G>C) c.2963G>C (p.Ser988Thr) c.3563G>C (p.Ser1188Thr) c.3068G>C (p.Ser1023Thr) c.3581G>C (p.Ser1194Thr) c.3299G>C (p.Ser1100Thr) c.3443G>C (p.Ser1148Thr) c.3440G>C (p.Ser1147Thr) c.3302G>C (p.Ser1101Thr) c.2975G>C (p.Ser992Thr) c.2972G>C (p.Ser991Thr) c.3071G>C (p.Ser1024Thr) c.*2999G>C (n.*2999G>C) c.2106+182640G>C (n.2106+182640G>C) n.62G>C | |
3 | g.184327347G= | CA1425958318 | EIF2B5,EIF4G1 | c.3560G= (p.Ser1187=) c.3494G= (p.Ser1165=) c.2907G= (n.2907G=) c.2963G= (p.Ser988=) c.3563G= (p.Ser1188=) c.3068G= (p.Ser1023=) c.3581G= (p.Ser1194=) c.3299G= (p.Ser1100=) c.3443G= (p.Ser1148=) c.3440G= (p.Ser1147=) c.3302G= (p.Ser1101=) c.2975G= (p.Ser992=) c.2972G= (p.Ser991=) c.3071G= (p.Ser1024=) c.*2999G= (n.*2999G=) c.2106+182640G= (n.2106+182640G=) n.62G= | |
3 | g.184327347G>T | CA355414959 | EIF2B5,EIF4G1 | c.3560G>T (p.Ser1187Ile) c.3494G>T (p.Ser1165Ile) c.2907G>T (n.2907G>T) c.2963G>T (p.Ser988Ile) c.3563G>T (p.Ser1188Ile) c.3068G>T (p.Ser1023Ile) c.3581G>T (p.Ser1194Ile) c.3299G>T (p.Ser1100Ile) c.3443G>T (p.Ser1148Ile) c.3440G>T (p.Ser1147Ile) c.3302G>T (p.Ser1101Ile) c.2975G>T (p.Ser992Ile) c.2972G>T (p.Ser991Ile) c.3071G>T (p.Ser1024Ile) c.*2999G>T (n.*2999G>T) c.2106+182640G>T (n.2106+182640G>T) n.62G>T | dbSNP gnomAD v4 |
3 | g.184327348C>A | CA355414963 | EIF2B5,EIF4G1 | c.3561C>A (p.Ser1187Arg) c.3495C>A (p.Ser1165Arg) c.2908C>A (n.2908C>A) c.2964C>A (p.Ser988Arg) c.3564C>A (p.Ser1188Arg) c.3069C>A (p.Ser1023Arg) c.3582C>A (p.Ser1194Arg) c.3300C>A (p.Ser1100Arg) c.3444C>A (p.Ser1148Arg) c.3441C>A (p.Ser1147Arg) c.3303C>A (p.Ser1101Arg) c.2976C>A (p.Ser992Arg) c.2973C>A (p.Ser991Arg) c.3072C>A (p.Ser1024Arg) c.*3000C>A (n.*3000C>A) c.2106+182641C>A (n.2106+182641C>A) n.63C>A | |
3 | g.184327348C>G | CA355414966 | EIF2B5,EIF4G1 | c.3561C>G (p.Ser1187Arg) c.3495C>G (p.Ser1165Arg) c.2908C>G (n.2908C>G) c.2964C>G (p.Ser988Arg) c.3564C>G (p.Ser1188Arg) c.3069C>G (p.Ser1023Arg) c.3582C>G (p.Ser1194Arg) c.3300C>G (p.Ser1100Arg) c.3444C>G (p.Ser1148Arg) c.3441C>G (p.Ser1147Arg) c.3303C>G (p.Ser1101Arg) c.2976C>G (p.Ser992Arg) c.2973C>G (p.Ser991Arg) c.3072C>G (p.Ser1024Arg) c.*3000C>G (n.*3000C>G) c.2106+182641C>G (n.2106+182641C>G) n.63C>G | |
3 | g.184327348C>T | CA437330561 | EIF2B5,EIF4G1 | c.3561C>T (p.Ser1187=) c.3495C>T (p.Ser1165=) c.2908C>T (n.2908C>T) c.2964C>T (p.Ser988=) c.3564C>T (p.Ser1188=) c.3069C>T (p.Ser1023=) c.3582C>T (p.Ser1194=) c.3300C>T (p.Ser1100=) c.3444C>T (p.Ser1148=) c.3441C>T (p.Ser1147=) c.3303C>T (p.Ser1101=) c.2976C>T (p.Ser992=) c.2973C>T (p.Ser991=) c.3072C>T (p.Ser1024=) c.*3000C>T (n.*3000C>T) c.2106+182641C>T (n.2106+182641C>T) n.63C>T | |
3 | g.184327349A>C | CA355414968 | EIF2B5,EIF4G1 | c.3562A>C (p.Lys1188Gln) c.3496A>C (p.Lys1166Gln) c.2909A>C (n.2909A>C) c.2965A>C (p.Lys989Gln) c.3565A>C (p.Lys1189Gln) c.3070A>C (p.Lys1024Gln) c.3583A>C (p.Lys1195Gln) c.3301A>C (p.Lys1101Gln) c.3445A>C (p.Lys1149Gln) c.3442A>C (p.Lys1148Gln) c.3304A>C (p.Lys1102Gln) c.2977A>C (p.Lys993Gln) c.2974A>C (p.Lys992Gln) c.3073A>C (p.Lys1025Gln) c.*3001A>C (n.*3001A>C) c.2106+182642A>C (n.2106+182642A>C) n.64A>C | |
3 | g.184327349A>G | CA355414969 | EIF2B5,EIF4G1 | c.3562A>G (p.Lys1188Glu) c.3496A>G (p.Lys1166Glu) c.2909A>G (n.2909A>G) c.2965A>G (p.Lys989Glu) c.3565A>G (p.Lys1189Glu) c.3070A>G (p.Lys1024Glu) c.3583A>G (p.Lys1195Glu) c.3301A>G (p.Lys1101Glu) c.3445A>G (p.Lys1149Glu) c.3442A>G (p.Lys1148Glu) c.3304A>G (p.Lys1102Glu) c.2977A>G (p.Lys993Glu) c.2974A>G (p.Lys992Glu) c.3073A>G (p.Lys1025Glu) c.*3001A>G (n.*3001A>G) c.2106+182642A>G (n.2106+182642A>G) n.64A>G | |
3 | g.184327349A>T | CA355414970 | EIF2B5,EIF4G1 | c.3562A>T (p.Lys1188Ter) c.3496A>T (p.Lys1166Ter) c.2909A>T (n.2909A>T) c.2965A>T (p.Lys989Ter) c.3565A>T (p.Lys1189Ter) c.3070A>T (p.Lys1024Ter) c.3583A>T (p.Lys1195Ter) c.3301A>T (p.Lys1101Ter) c.3445A>T (p.Lys1149Ter) c.3442A>T (p.Lys1148Ter) c.3304A>T (p.Lys1102Ter) c.2977A>T (p.Lys993Ter) c.2974A>T (p.Lys992Ter) c.3073A>T (p.Lys1025Ter) c.*3001A>T (n.*3001A>T) c.2106+182642A>T (n.2106+182642A>T) n.64A>T | |
3 | g.184327350A>C | CA355414973 | EIF2B5,EIF4G1 | c.3563A>C (p.Lys1188Thr) c.3497A>C (p.Lys1166Thr) c.2910A>C (n.2910A>C) c.2966A>C (p.Lys989Thr) c.3566A>C (p.Lys1189Thr) c.3071A>C (p.Lys1024Thr) c.3584A>C (p.Lys1195Thr) c.3302A>C (p.Lys1101Thr) c.3446A>C (p.Lys1149Thr) c.3443A>C (p.Lys1148Thr) c.3305A>C (p.Lys1102Thr) c.2978A>C (p.Lys993Thr) c.2975A>C (p.Lys992Thr) c.3074A>C (p.Lys1025Thr) c.*3002A>C (n.*3002A>C) c.2106+182643A>C (n.2106+182643A>C) n.65A>C | |
3 | g.184327350A>G | CA355414975 | EIF2B5,EIF4G1 | c.3563A>G (p.Lys1188Arg) c.3497A>G (p.Lys1166Arg) c.2910A>G (n.2910A>G) c.2966A>G (p.Lys989Arg) c.3566A>G (p.Lys1189Arg) c.3071A>G (p.Lys1024Arg) c.3584A>G (p.Lys1195Arg) c.3302A>G (p.Lys1101Arg) c.3446A>G (p.Lys1149Arg) c.3443A>G (p.Lys1148Arg) c.3305A>G (p.Lys1102Arg) c.2978A>G (p.Lys993Arg) c.2975A>G (p.Lys992Arg) c.3074A>G (p.Lys1025Arg) c.*3002A>G (n.*3002A>G) c.2106+182643A>G (n.2106+182643A>G) n.65A>G | |
3 | g.184327350A>T | CA355414976 | EIF2B5,EIF4G1 | c.3563A>T (p.Lys1188Met) c.3497A>T (p.Lys1166Met) c.2910A>T (n.2910A>T) c.2966A>T (p.Lys989Met) c.3566A>T (p.Lys1189Met) c.3071A>T (p.Lys1024Met) c.3584A>T (p.Lys1195Met) c.3302A>T (p.Lys1101Met) c.3446A>T (p.Lys1149Met) c.3443A>T (p.Lys1148Met) c.3305A>T (p.Lys1102Met) c.2978A>T (p.Lys993Met) c.2975A>T (p.Lys992Met) c.3074A>T (p.Lys1025Met) c.*3002A>T (n.*3002A>T) c.2106+182643A>T (n.2106+182643A>T) n.65A>T | |
3 | g.184327351G>A | CA437330565 | EIF2B5,EIF4G1 | c.3564G>A (p.Lys1188=) c.3498G>A (p.Lys1166=) c.2911G>A (n.2911G>A) c.2967G>A (p.Lys989=) c.3567G>A (p.Lys1189=) c.3072G>A (p.Lys1024=) c.3585G>A (p.Lys1195=) c.3303G>A (p.Lys1101=) c.3447G>A (p.Lys1149=) c.3444G>A (p.Lys1148=) c.3306G>A (p.Lys1102=) c.2979G>A (p.Lys993=) c.2976G>A (p.Lys992=) c.3075G>A (p.Lys1025=) c.*3003G>A (n.*3003G>A) c.2106+182644G>A (n.2106+182644G>A) n.66G>A | |
3 | g.184327351G>C | CA355414977 | EIF2B5,EIF4G1 | c.3564G>C (p.Lys1188Asn) c.3498G>C (p.Lys1166Asn) c.2911G>C (n.2911G>C) c.2967G>C (p.Lys989Asn) c.3567G>C (p.Lys1189Asn) c.3072G>C (p.Lys1024Asn) c.3585G>C (p.Lys1195Asn) c.3303G>C (p.Lys1101Asn) c.3447G>C (p.Lys1149Asn) c.3444G>C (p.Lys1148Asn) c.3306G>C (p.Lys1102Asn) c.2979G>C (p.Lys993Asn) c.2976G>C (p.Lys992Asn) c.3075G>C (p.Lys1025Asn) c.*3003G>C (n.*3003G>C) c.2106+182644G>C (n.2106+182644G>C) n.66G>C | |
3 | g.184327351G>T | CA355414978 | EIF2B5,EIF4G1 | c.3564G>T (p.Lys1188Asn) c.3498G>T (p.Lys1166Asn) c.2911G>T (n.2911G>T) c.2967G>T (p.Lys989Asn) c.3567G>T (p.Lys1189Asn) c.3072G>T (p.Lys1024Asn) c.3585G>T (p.Lys1195Asn) c.3303G>T (p.Lys1101Asn) c.3447G>T (p.Lys1149Asn) c.3444G>T (p.Lys1148Asn) c.3306G>T (p.Lys1102Asn) c.2979G>T (p.Lys993Asn) c.2976G>T (p.Lys992Asn) c.3075G>T (p.Lys1025Asn) c.*3003G>T (n.*3003G>T) c.2106+182644G>T (n.2106+182644G>T) n.66G>T | |
3 | g.184327352G>A | CA355414990 | EIF2B5,EIF4G1 | c.3565G>A (p.Glu1189Lys) c.3499G>A (p.Glu1167Lys) c.2912G>A (n.2912G>A) c.2968G>A (p.Glu990Lys) c.3568G>A (p.Glu1190Lys) c.3073G>A (p.Glu1025Lys) c.3586G>A (p.Glu1196Lys) c.3304G>A (p.Glu1102Lys) c.3448G>A (p.Glu1150Lys) c.3445G>A (p.Glu1149Lys) c.3307G>A (p.Glu1103Lys) c.2980G>A (p.Glu994Lys) c.2977G>A (p.Glu993Lys) c.3076G>A (p.Glu1026Lys) c.*3004G>A (n.*3004G>A) c.2106+182645G>A (n.2106+182645G>A) n.67G>A | |
3 | g.184327352G>C | CA355414988 | EIF2B5,EIF4G1 | c.3565G>C (p.Glu1189Gln) c.3499G>C (p.Glu1167Gln) c.2912G>C (n.2912G>C) c.2968G>C (p.Glu990Gln) c.3568G>C (p.Glu1190Gln) c.3073G>C (p.Glu1025Gln) c.3586G>C (p.Glu1196Gln) c.3304G>C (p.Glu1102Gln) c.3448G>C (p.Glu1150Gln) c.3445G>C (p.Glu1149Gln) c.3307G>C (p.Glu1103Gln) c.2980G>C (p.Glu994Gln) c.2977G>C (p.Glu993Gln) c.3076G>C (p.Glu1026Gln) c.*3004G>C (n.*3004G>C) c.2106+182645G>C (n.2106+182645G>C) n.67G>C | |
3 | g.184327352G>T | CA355414980 | EIF2B5,EIF4G1 | c.3565G>T (p.Glu1189Ter) c.3499G>T (p.Glu1167Ter) c.2912G>T (n.2912G>T) c.2968G>T (p.Glu990Ter) c.3568G>T (p.Glu1190Ter) c.3073G>T (p.Glu1025Ter) c.3586G>T (p.Glu1196Ter) c.3304G>T (p.Glu1102Ter) c.3448G>T (p.Glu1150Ter) c.3445G>T (p.Glu1149Ter) c.3307G>T (p.Glu1103Ter) c.2980G>T (p.Glu994Ter) c.2977G>T (p.Glu993Ter) c.3076G>T (p.Glu1026Ter) c.*3004G>T (n.*3004G>T) c.2106+182645G>T (n.2106+182645G>T) n.67G>T | |
3 | g.184327353A>C | CA355415000 | EIF2B5,EIF4G1 | c.3566A>C (p.Glu1189Ala) c.3500A>C (p.Glu1167Ala) c.2913A>C (n.2913A>C) c.2969A>C (p.Glu990Ala) c.3569A>C (p.Glu1190Ala) c.3074A>C (p.Glu1025Ala) c.3587A>C (p.Glu1196Ala) c.3305A>C (p.Glu1102Ala) c.3449A>C (p.Glu1150Ala) c.3446A>C (p.Glu1149Ala) c.3308A>C (p.Glu1103Ala) c.2981A>C (p.Glu994Ala) c.2978A>C (p.Glu993Ala) c.3077A>C (p.Glu1026Ala) c.*3005A>C (n.*3005A>C) c.2106+182646A>C (n.2106+182646A>C) n.68A>C | |
3 | g.184327353A>G | CA355414995 | EIF2B5,EIF4G1 | c.3566A>G (p.Glu1189Gly) c.3500A>G (p.Glu1167Gly) c.2913A>G (n.2913A>G) c.2969A>G (p.Glu990Gly) c.3569A>G (p.Glu1190Gly) c.3074A>G (p.Glu1025Gly) c.3587A>G (p.Glu1196Gly) c.3305A>G (p.Glu1102Gly) c.3449A>G (p.Glu1150Gly) c.3446A>G (p.Glu1149Gly) c.3308A>G (p.Glu1103Gly) c.2981A>G (p.Glu994Gly) c.2978A>G (p.Glu993Gly) c.3077A>G (p.Glu1026Gly) c.*3005A>G (n.*3005A>G) c.2106+182646A>G (n.2106+182646A>G) n.68A>G | |
3 | g.184327353A>T | CA355414997 | EIF2B5,EIF4G1 | c.3566A>T (p.Glu1189Val) c.3500A>T (p.Glu1167Val) c.2913A>T (n.2913A>T) c.2969A>T (p.Glu990Val) c.3569A>T (p.Glu1190Val) c.3074A>T (p.Glu1025Val) c.3587A>T (p.Glu1196Val) c.3305A>T (p.Glu1102Val) c.3449A>T (p.Glu1150Val) c.3446A>T (p.Glu1149Val) c.3308A>T (p.Glu1103Val) c.2981A>T (p.Glu994Val) c.2978A>T (p.Glu993Val) c.3077A>T (p.Glu1026Val) c.*3005A>T (n.*3005A>T) c.2106+182646A>T (n.2106+182646A>T) n.68A>T | |
3 | g.184327354A= | CA1425958320 | EIF2B5,EIF4G1 | c.3567A= (p.Glu1189=) c.3501A= (p.Glu1167=) c.2914A= (n.2914A=) c.2970A= (p.Glu990=) c.3570A= (p.Glu1190=) c.3075A= (p.Glu1025=) c.3588A= (p.Glu1196=) c.3306A= (p.Glu1102=) c.3450A= (p.Glu1150=) c.3447A= (p.Glu1149=) c.3309A= (p.Glu1103=) c.2982A= (p.Glu994=) c.2979A= (p.Glu993=) c.3078A= (p.Glu1026=) c.*3006A= (n.*3006A=) c.2106+182647A= (n.2106+182647A=) n.69A= | |
3 | g.184327354A>C | CA355415002 | EIF2B5,EIF4G1 | c.3567A>C (p.Glu1189Asp) c.3501A>C (p.Glu1167Asp) c.2914A>C (n.2914A>C) c.2970A>C (p.Glu990Asp) c.3570A>C (p.Glu1190Asp) c.3075A>C (p.Glu1025Asp) c.3588A>C (p.Glu1196Asp) c.3306A>C (p.Glu1102Asp) c.3450A>C (p.Glu1150Asp) c.3447A>C (p.Glu1149Asp) c.3309A>C (p.Glu1103Asp) c.2982A>C (p.Glu994Asp) c.2979A>C (p.Glu993Asp) c.3078A>C (p.Glu1026Asp) c.*3006A>C (n.*3006A>C) c.2106+182647A>C (n.2106+182647A>C) n.69A>C | |
3 | g.184327354A>G | CA2732847 | EIF2B5,EIF4G1 | c.3567A>G (p.Glu1189=) c.3501A>G (p.Glu1167=) c.2914A>G (n.2914A>G) c.2970A>G (p.Glu990=) c.3570A>G (p.Glu1190=) c.3075A>G (p.Glu1025=) c.3588A>G (p.Glu1196=) c.3306A>G (p.Glu1102=) c.3450A>G (p.Glu1150=) c.3447A>G (p.Glu1149=) c.3309A>G (p.Glu1103=) c.2982A>G (p.Glu994=) c.2979A>G (p.Glu993=) c.3078A>G (p.Glu1026=) c.*3006A>G (n.*3006A>G) c.2106+182647A>G (n.2106+182647A>G) n.69A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.184327354A>T | CA355415006 | EIF2B5,EIF4G1 | c.3567A>T (p.Glu1189Asp) c.3501A>T (p.Glu1167Asp) c.2914A>T (n.2914A>T) c.2970A>T (p.Glu990Asp) c.3570A>T (p.Glu1190Asp) c.3075A>T (p.Glu1025Asp) c.3588A>T (p.Glu1196Asp) c.3306A>T (p.Glu1102Asp) c.3450A>T (p.Glu1150Asp) c.3447A>T (p.Glu1149Asp) c.3309A>T (p.Glu1103Asp) c.2982A>T (p.Glu994Asp) c.2979A>T (p.Glu993Asp) c.3078A>T (p.Glu1026Asp) c.*3006A>T (n.*3006A>T) c.2106+182647A>T (n.2106+182647A>T) n.69A>T | |
3 | g.184327355G>A | CA355415011 | EIF2B5,EIF4G1 | c.3568G>A (p.Val1190Met) c.3502G>A (p.Val1168Met) c.2915G>A (n.2915G>A) c.2971G>A (p.Val991Met) c.3571G>A (p.Val1191Met) c.3076G>A (p.Val1026Met) c.3589G>A (p.Val1197Met) c.3307G>A (p.Val1103Met) c.3451G>A (p.Val1151Met) c.3448G>A (p.Val1150Met) c.3310G>A (p.Val1104Met) c.2983G>A (p.Val995Met) c.2980G>A (p.Val994Met) c.3079G>A (p.Val1027Met) c.*3007G>A (n.*3007G>A) c.2106+182648G>A (n.2106+182648G>A) n.70G>A | |
3 | g.184327355G>C | CA355415009 | EIF2B5,EIF4G1 | c.3568G>C (p.Val1190Leu) c.3502G>C (p.Val1168Leu) c.2915G>C (n.2915G>C) c.2971G>C (p.Val991Leu) c.3571G>C (p.Val1191Leu) c.3076G>C (p.Val1026Leu) c.3589G>C (p.Val1197Leu) c.3307G>C (p.Val1103Leu) c.3451G>C (p.Val1151Leu) c.3448G>C (p.Val1150Leu) c.3310G>C (p.Val1104Leu) c.2983G>C (p.Val995Leu) c.2980G>C (p.Val994Leu) c.3079G>C (p.Val1027Leu) c.*3007G>C (n.*3007G>C) c.2106+182648G>C (n.2106+182648G>C) n.70G>C | |
3 | g.184327355G= | CA1425958322 | EIF2B5,EIF4G1 | c.3568G= (p.Val1190=) c.3502G= (p.Val1168=) c.2915G= (n.2915G=) c.2971G= (p.Val991=) c.3571G= (p.Val1191=) c.3076G= (p.Val1026=) c.3589G= (p.Val1197=) c.3307G= (p.Val1103=) c.3451G= (p.Val1151=) c.3448G= (p.Val1150=) c.3310G= (p.Val1104=) c.2983G= (p.Val995=) c.2980G= (p.Val994=) c.3079G= (p.Val1027=) c.*3007G= (n.*3007G=) c.2106+182648G= (n.2106+182648G=) n.70G= | |
3 | g.184327355G>T | CA355415008 | EIF2B5,EIF4G1 | c.3568G>T (p.Val1190Leu) c.3502G>T (p.Val1168Leu) c.2915G>T (n.2915G>T) c.2971G>T (p.Val991Leu) c.3571G>T (p.Val1191Leu) c.3076G>T (p.Val1026Leu) c.3589G>T (p.Val1197Leu) c.3307G>T (p.Val1103Leu) c.3451G>T (p.Val1151Leu) c.3448G>T (p.Val1150Leu) c.3310G>T (p.Val1104Leu) c.2983G>T (p.Val995Leu) c.2980G>T (p.Val994Leu) c.3079G>T (p.Val1027Leu) c.*3007G>T (n.*3007G>T) c.2106+182648G>T (n.2106+182648G>T) n.70G>T | dbSNP gnomAD v2 gnomAD v4 |
3 | g.184327356T>A | CA355415013 | EIF2B5,EIF4G1 | c.3569T>A (p.Val1190Glu) c.3503T>A (p.Val1168Glu) c.2916T>A (n.2916T>A) c.2972T>A (p.Val991Glu) c.3572T>A (p.Val1191Glu) c.3077T>A (p.Val1026Glu) c.3590T>A (p.Val1197Glu) c.3308T>A (p.Val1103Glu) c.3452T>A (p.Val1151Glu) c.3449T>A (p.Val1150Glu) c.3311T>A (p.Val1104Glu) c.2984T>A (p.Val995Glu) c.2981T>A (p.Val994Glu) c.3080T>A (p.Val1027Glu) c.*3008T>A (n.*3008T>A) c.2106+182649T>A (n.2106+182649T>A) n.71T>A | gnomAD v4 |
3 | g.184327356T>C | CA355415015 | EIF2B5,EIF4G1 | c.3569T>C (p.Val1190Ala) c.3503T>C (p.Val1168Ala) c.2916T>C (n.2916T>C) c.2972T>C (p.Val991Ala) c.3572T>C (p.Val1191Ala) c.3077T>C (p.Val1026Ala) c.3590T>C (p.Val1197Ala) c.3308T>C (p.Val1103Ala) c.3452T>C (p.Val1151Ala) c.3449T>C (p.Val1150Ala) c.3311T>C (p.Val1104Ala) c.2984T>C (p.Val995Ala) c.2981T>C (p.Val994Ala) c.3080T>C (p.Val1027Ala) c.*3008T>C (n.*3008T>C) c.2106+182649T>C (n.2106+182649T>C) n.71T>C | dbSNP |
3 | g.184327356T>G | CA355415017 | EIF2B5,EIF4G1 | c.3569T>G (p.Val1190Gly) c.3503T>G (p.Val1168Gly) c.2916T>G (n.2916T>G) c.2972T>G (p.Val991Gly) c.3572T>G (p.Val1191Gly) c.3077T>G (p.Val1026Gly) c.3590T>G (p.Val1197Gly) c.3308T>G (p.Val1103Gly) c.3452T>G (p.Val1151Gly) c.3449T>G (p.Val1150Gly) c.3311T>G (p.Val1104Gly) c.2984T>G (p.Val995Gly) c.2981T>G (p.Val994Gly) c.3080T>G (p.Val1027Gly) c.*3008T>G (n.*3008T>G) c.2106+182649T>G (n.2106+182649T>G) n.71T>G | |
3 | g.184327356T= | CA1425958326 | EIF2B5,EIF4G1 | c.3569T= (p.Val1190=) c.3503T= (p.Val1168=) c.2916T= (n.2916T=) c.2972T= (p.Val991=) c.3572T= (p.Val1191=) c.3077T= (p.Val1026=) c.3590T= (p.Val1197=) c.3308T= (p.Val1103=) c.3452T= (p.Val1151=) c.3449T= (p.Val1150=) c.3311T= (p.Val1104=) c.2984T= (p.Val995=) c.2981T= (p.Val994=) c.3080T= (p.Val1027=) c.*3008T= (n.*3008T=) c.2106+182649T= (n.2106+182649T=) n.71T= | |
3 | g.184327357G>A | CA88867611 | EIF2B5,EIF4G1 | c.3570G>A (p.Val1190=) c.3504G>A (p.Val1168=) c.2917G>A (n.2917G>A) c.2973G>A (p.Val991=) c.3573G>A (p.Val1191=) c.3078G>A (p.Val1026=) c.3591G>A (p.Val1197=) c.3309G>A (p.Val1103=) c.3453G>A (p.Val1151=) c.3450G>A (p.Val1150=) c.3312G>A (p.Val1104=) c.2985G>A (p.Val995=) c.2982G>A (p.Val994=) c.3081G>A (p.Val1027=) c.*3009G>A (n.*3009G>A) c.2106+182650G>A (n.2106+182650G>A) n.72G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.184327357G>C | CA437330569 | EIF2B5,EIF4G1 | c.3570G>C (p.Val1190=) c.3504G>C (p.Val1168=) c.2917G>C (n.2917G>C) c.2973G>C (p.Val991=) c.3573G>C (p.Val1191=) c.3078G>C (p.Val1026=) c.3591G>C (p.Val1197=) c.3309G>C (p.Val1103=) c.3453G>C (p.Val1151=) c.3450G>C (p.Val1150=) c.3312G>C (p.Val1104=) c.2985G>C (p.Val995=) c.2982G>C (p.Val994=) c.3081G>C (p.Val1027=) c.*3009G>C (n.*3009G>C) c.2106+182650G>C (n.2106+182650G>C) n.72G>C | |
3 | g.184327357G= | CA1425958329 | EIF2B5,EIF4G1 | c.3570G= (p.Val1190=) c.3504G= (p.Val1168=) c.2917G= (n.2917G=) c.2973G= (p.Val991=) c.3573G= (p.Val1191=) c.3078G= (p.Val1026=) c.3591G= (p.Val1197=) c.3309G= (p.Val1103=) c.3453G= (p.Val1151=) c.3450G= (p.Val1150=) c.3312G= (p.Val1104=) c.2985G= (p.Val995=) c.2982G= (p.Val994=) c.3081G= (p.Val1027=) c.*3009G= (n.*3009G=) c.2106+182650G= (n.2106+182650G=) n.72G= | |
3 | g.184327357G>T | CA437330570 | EIF2B5,EIF4G1 | c.3570G>T (p.Val1190=) c.3504G>T (p.Val1168=) c.2917G>T (n.2917G>T) c.2973G>T (p.Val991=) c.3573G>T (p.Val1191=) c.3078G>T (p.Val1026=) c.3591G>T (p.Val1197=) c.3309G>T (p.Val1103=) c.3453G>T (p.Val1151=) c.3450G>T (p.Val1150=) c.3312G>T (p.Val1104=) c.2985G>T (p.Val995=) c.2982G>T (p.Val994=) c.3081G>T (p.Val1027=) c.*3009G>T (n.*3009G>T) c.2106+182650G>T (n.2106+182650G>T) n.72G>T | |
3 | g.184327358G>A | CA355415021 | EIF2B5,EIF4G1 | c.3571G>A (p.Glu1191Lys) c.3505G>A (p.Glu1169Lys) c.2918G>A (n.2918G>A) c.2974G>A (p.Glu992Lys) c.3574G>A (p.Glu1192Lys) c.3079G>A (p.Glu1027Lys) c.3592G>A (p.Glu1198Lys) c.3310G>A (p.Glu1104Lys) c.3454G>A (p.Glu1152Lys) c.3451G>A (p.Glu1151Lys) c.3313G>A (p.Glu1105Lys) c.2986G>A (p.Glu996Lys) c.2983G>A (p.Glu995Lys) c.3082G>A (p.Glu1028Lys) c.*3010G>A (n.*3010G>A) c.2106+182651G>A (n.2106+182651G>A) n.73G>A | |
3 | g.184327358G>C | CA355415023 | EIF2B5,EIF4G1 | c.3571G>C (p.Glu1191Gln) c.3505G>C (p.Glu1169Gln) c.2918G>C (n.2918G>C) c.2974G>C (p.Glu992Gln) c.3574G>C (p.Glu1192Gln) c.3079G>C (p.Glu1027Gln) c.3592G>C (p.Glu1198Gln) c.3310G>C (p.Glu1104Gln) c.3454G>C (p.Glu1152Gln) c.3451G>C (p.Glu1151Gln) c.3313G>C (p.Glu1105Gln) c.2986G>C (p.Glu996Gln) c.2983G>C (p.Glu995Gln) c.3082G>C (p.Glu1028Gln) c.*3010G>C (n.*3010G>C) c.2106+182651G>C (n.2106+182651G>C) n.73G>C | |
3 | g.184327358G>T | CA355415025 | EIF2B5,EIF4G1 | c.3571G>T (p.Glu1191Ter) c.3505G>T (p.Glu1169Ter) c.2918G>T (n.2918G>T) c.2974G>T (p.Glu992Ter) c.3574G>T (p.Glu1192Ter) c.3079G>T (p.Glu1027Ter) c.3592G>T (p.Glu1198Ter) c.3310G>T (p.Glu1104Ter) c.3454G>T (p.Glu1152Ter) c.3451G>T (p.Glu1151Ter) c.3313G>T (p.Glu1105Ter) c.2986G>T (p.Glu996Ter) c.2983G>T (p.Glu995Ter) c.3082G>T (p.Glu1028Ter) c.*3010G>T (n.*3010G>T) c.2106+182651G>T (n.2106+182651G>T) n.73G>T | |
3 | g.184327359A= | CA1425958331 | EIF2B5,EIF4G1 | c.3572A= (p.Glu1191=) c.3506A= (p.Glu1169=) c.2919A= (n.2919A=) c.2975A= (p.Glu992=) c.3575A= (p.Glu1192=) c.3080A= (p.Glu1027=) c.3593A= (p.Glu1198=) c.3311A= (p.Glu1104=) c.3455A= (p.Glu1152=) c.3452A= (p.Glu1151=) c.3314A= (p.Glu1105=) c.2987A= (p.Glu996=) c.2984A= (p.Glu995=) c.3083A= (p.Glu1028=) c.*3011A= (n.*3011A=) c.2106+182652A= (n.2106+182652A=) n.74A= | |
3 | g.184327359A>C | CA355415028 | EIF2B5,EIF4G1 | c.3572A>C (p.Glu1191Ala) c.3506A>C (p.Glu1169Ala) c.2919A>C (n.2919A>C) c.2975A>C (p.Glu992Ala) c.3575A>C (p.Glu1192Ala) c.3080A>C (p.Glu1027Ala) c.3593A>C (p.Glu1198Ala) c.3311A>C (p.Glu1104Ala) c.3455A>C (p.Glu1152Ala) c.3452A>C (p.Glu1151Ala) c.3314A>C (p.Glu1105Ala) c.2987A>C (p.Glu996Ala) c.2984A>C (p.Glu995Ala) c.3083A>C (p.Glu1028Ala) c.*3011A>C (n.*3011A>C) c.2106+182652A>C (n.2106+182652A>C) n.74A>C | |
3 | g.184327359A>G | CA355415031 | EIF2B5,EIF4G1 | c.3572A>G (p.Glu1191Gly) c.3506A>G (p.Glu1169Gly) c.2919A>G (n.2919A>G) c.2975A>G (p.Glu992Gly) c.3575A>G (p.Glu1192Gly) c.3080A>G (p.Glu1027Gly) c.3593A>G (p.Glu1198Gly) c.3311A>G (p.Glu1104Gly) c.3455A>G (p.Glu1152Gly) c.3452A>G (p.Glu1151Gly) c.3314A>G (p.Glu1105Gly) c.2987A>G (p.Glu996Gly) c.2984A>G (p.Glu995Gly) c.3083A>G (p.Glu1028Gly) c.*3011A>G (n.*3011A>G) c.2106+182652A>G (n.2106+182652A>G) n.74A>G | dbSNP gnomAD v2 gnomAD v4 |
3 | g.184327359A>T | CA355415029 | EIF2B5,EIF4G1 | c.3572A>T (p.Glu1191Val) c.3506A>T (p.Glu1169Val) c.2919A>T (n.2919A>T) c.2975A>T (p.Glu992Val) c.3575A>T (p.Glu1192Val) c.3080A>T (p.Glu1027Val) c.3593A>T (p.Glu1198Val) c.3311A>T (p.Glu1104Val) c.3455A>T (p.Glu1152Val) c.3452A>T (p.Glu1151Val) c.3314A>T (p.Glu1105Val) c.2987A>T (p.Glu996Val) c.2984A>T (p.Glu995Val) c.3083A>T (p.Glu1028Val) c.*3011A>T (n.*3011A>T) c.2106+182652A>T (n.2106+182652A>T) n.74A>T | dbSNP |
3 | g.184327360G>A | CA437330574 | EIF2B5,EIF4G1 | c.3573G>A (p.Glu1191=) c.3507G>A (p.Glu1169=) c.2920G>A (n.2920G>A) c.2976G>A (p.Glu992=) c.3576G>A (p.Glu1192=) c.3081G>A (p.Glu1027=) c.3594G>A (p.Glu1198=) c.3312G>A (p.Glu1104=) c.3456G>A (p.Glu1152=) c.3453G>A (p.Glu1151=) c.3315G>A (p.Glu1105=) c.2988G>A (p.Glu996=) c.2985G>A (p.Glu995=) c.3084G>A (p.Glu1028=) c.*3012G>A (n.*3012G>A) c.2106+182653G>A (n.2106+182653G>A) n.75G>A | |
3 | g.184327360G>C | CA355415032 | EIF2B5,EIF4G1 | c.3573G>C (p.Glu1191Asp) c.3507G>C (p.Glu1169Asp) c.2920G>C (n.2920G>C) c.2976G>C (p.Glu992Asp) c.3576G>C (p.Glu1192Asp) c.3081G>C (p.Glu1027Asp) c.3594G>C (p.Glu1198Asp) c.3312G>C (p.Glu1104Asp) c.3456G>C (p.Glu1152Asp) c.3453G>C (p.Glu1151Asp) c.3315G>C (p.Glu1105Asp) c.2988G>C (p.Glu996Asp) c.2985G>C (p.Glu995Asp) c.3084G>C (p.Glu1028Asp) c.*3012G>C (n.*3012G>C) c.2106+182653G>C (n.2106+182653G>C) n.75G>C | |
3 | g.184327360G>T | CA355415033 | EIF2B5,EIF4G1 | c.3573G>T (p.Glu1191Asp) c.3507G>T (p.Glu1169Asp) c.2920G>T (n.2920G>T) c.2976G>T (p.Glu992Asp) c.3576G>T (p.Glu1192Asp) c.3081G>T (p.Glu1027Asp) c.3594G>T (p.Glu1198Asp) c.3312G>T (p.Glu1104Asp) c.3456G>T (p.Glu1152Asp) c.3453G>T (p.Glu1151Asp) c.3315G>T (p.Glu1105Asp) c.2988G>T (p.Glu996Asp) c.2985G>T (p.Glu995Asp) c.3084G>T (p.Glu1028Asp) c.*3012G>T (n.*3012G>T) c.2106+182653G>T (n.2106+182653G>T) n.75G>T | COSMIC |
3 | g.184327361G>A | CA355415034 | EIF2B5,EIF4G1 | c.3574G>A (p.Glu1192Lys) c.3508G>A (p.Glu1170Lys) c.2921G>A (n.2921G>A) c.2977G>A (p.Glu993Lys) c.3577G>A (p.Glu1193Lys) c.3082G>A (p.Glu1028Lys) c.3595G>A (p.Glu1199Lys) c.3313G>A (p.Glu1105Lys) c.3457G>A (p.Glu1153Lys) c.3454G>A (p.Glu1152Lys) c.3316G>A (p.Glu1106Lys) c.2989G>A (p.Glu997Lys) c.2986G>A (p.Glu996Lys) c.3085G>A (p.Glu1029Lys) c.*3013G>A (n.*3013G>A) c.2106+182654G>A (n.2106+182654G>A) n.76G>A | gnomAD v4 |
3 | g.184327361G>C | CA355415036 | EIF2B5,EIF4G1 | c.3574G>C (p.Glu1192Gln) c.3508G>C (p.Glu1170Gln) c.2921G>C (n.2921G>C) c.2977G>C (p.Glu993Gln) c.3577G>C (p.Glu1193Gln) c.3082G>C (p.Glu1028Gln) c.3595G>C (p.Glu1199Gln) c.3313G>C (p.Glu1105Gln) c.3457G>C (p.Glu1153Gln) c.3454G>C (p.Glu1152Gln) c.3316G>C (p.Glu1106Gln) c.2989G>C (p.Glu997Gln) c.2986G>C (p.Glu996Gln) c.3085G>C (p.Glu1029Gln) c.*3013G>C (n.*3013G>C) c.2106+182654G>C (n.2106+182654G>C) n.76G>C | |
3 | g.184327361G>T | CA355415038 | EIF2B5,EIF4G1 | c.3574G>T (p.Glu1192Ter) c.3508G>T (p.Glu1170Ter) c.2921G>T (n.2921G>T) c.2977G>T (p.Glu993Ter) c.3577G>T (p.Glu1193Ter) c.3082G>T (p.Glu1028Ter) c.3595G>T (p.Glu1199Ter) c.3313G>T (p.Glu1105Ter) c.3457G>T (p.Glu1153Ter) c.3454G>T (p.Glu1152Ter) c.3316G>T (p.Glu1106Ter) c.2989G>T (p.Glu997Ter) c.2986G>T (p.Glu996Ter) c.3085G>T (p.Glu1029Ter) c.*3013G>T (n.*3013G>T) c.2106+182654G>T (n.2106+182654G>T) n.76G>T | |
3 | g.184327362A>C | CA355415042 | EIF2B5,EIF4G1 | c.3575A>C (p.Glu1192Ala) c.3509A>C (p.Glu1170Ala) c.2922A>C (n.2922A>C) c.2978A>C (p.Glu993Ala) c.3578A>C (p.Glu1193Ala) c.3083A>C (p.Glu1028Ala) c.3596A>C (p.Glu1199Ala) c.3314A>C (p.Glu1105Ala) c.3458A>C (p.Glu1153Ala) c.3455A>C (p.Glu1152Ala) c.3317A>C (p.Glu1106Ala) c.2990A>C (p.Glu997Ala) c.2987A>C (p.Glu996Ala) c.3086A>C (p.Glu1029Ala) c.*3014A>C (n.*3014A>C) c.2106+182655A>C (n.2106+182655A>C) n.77A>C | |
3 | g.184327362A>G | CA355415043 | EIF2B5,EIF4G1 | c.3575A>G (p.Glu1192Gly) c.3509A>G (p.Glu1170Gly) c.2922A>G (n.2922A>G) c.2978A>G (p.Glu993Gly) c.3578A>G (p.Glu1193Gly) c.3083A>G (p.Glu1028Gly) c.3596A>G (p.Glu1199Gly) c.3314A>G (p.Glu1105Gly) c.3458A>G (p.Glu1153Gly) c.3455A>G (p.Glu1152Gly) c.3317A>G (p.Glu1106Gly) c.2990A>G (p.Glu997Gly) c.2987A>G (p.Glu996Gly) c.3086A>G (p.Glu1029Gly) c.*3014A>G (n.*3014A>G) c.2106+182655A>G (n.2106+182655A>G) n.77A>G | gnomAD v4 |
3 | g.184327362A>T | CA355415044 | EIF2B5,EIF4G1 | c.3575A>T (p.Glu1192Val) c.3509A>T (p.Glu1170Val) c.2922A>T (n.2922A>T) c.2978A>T (p.Glu993Val) c.3578A>T (p.Glu1193Val) c.3083A>T (p.Glu1028Val) c.3596A>T (p.Glu1199Val) c.3314A>T (p.Glu1105Val) c.3458A>T (p.Glu1153Val) c.3455A>T (p.Glu1152Val) c.3317A>T (p.Glu1106Val) c.2990A>T (p.Glu997Val) c.2987A>T (p.Glu996Val) c.3086A>T (p.Glu1029Val) c.*3014A>T (n.*3014A>T) c.2106+182655A>T (n.2106+182655A>T) n.77A>T | |
3 | g.184327363G>A | CA437330576 | EIF2B5,EIF4G1 | c.3576G>A (p.Glu1192=) c.3510G>A (p.Glu1170=) c.2923G>A (n.2923G>A) c.2979G>A (p.Glu993=) c.3579G>A (p.Glu1193=) c.3084G>A (p.Glu1028=) c.3597G>A (p.Glu1199=) c.3315G>A (p.Glu1105=) c.3459G>A (p.Glu1153=) c.3456G>A (p.Glu1152=) c.3318G>A (p.Glu1106=) c.2991G>A (p.Glu997=) c.2988G>A (p.Glu996=) c.3087G>A (p.Glu1029=) c.*3015G>A (n.*3015G>A) c.2106+182656G>A (n.2106+182656G>A) n.78G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.184327363G>C | CA355415048 | EIF2B5,EIF4G1 | c.3576G>C (p.Glu1192Asp) c.3510G>C (p.Glu1170Asp) c.2923G>C (n.2923G>C) c.2979G>C (p.Glu993Asp) c.3579G>C (p.Glu1193Asp) c.3084G>C (p.Glu1028Asp) c.3597G>C (p.Glu1199Asp) c.3315G>C (p.Glu1105Asp) c.3459G>C (p.Glu1153Asp) c.3456G>C (p.Glu1152Asp) c.3318G>C (p.Glu1106Asp) c.2991G>C (p.Glu997Asp) c.2988G>C (p.Glu996Asp) c.3087G>C (p.Glu1029Asp) c.*3015G>C (n.*3015G>C) c.2106+182656G>C (n.2106+182656G>C) n.78G>C | gnomAD v4 |
3 | g.184327363G= | CA1425958333 | EIF2B5,EIF4G1 | c.3576G= (p.Glu1192=) c.3510G= (p.Glu1170=) c.2923G= (n.2923G=) c.2979G= (p.Glu993=) c.3579G= (p.Glu1193=) c.3084G= (p.Glu1028=) c.3597G= (p.Glu1199=) c.3315G= (p.Glu1105=) c.3459G= (p.Glu1153=) c.3456G= (p.Glu1152=) c.3318G= (p.Glu1106=) c.2991G= (p.Glu997=) c.2988G= (p.Glu996=) c.3087G= (p.Glu1029=) c.*3015G= (n.*3015G=) c.2106+182656G= (n.2106+182656G=) n.78G= | |
3 | g.184327363G>T | CA355415050 | EIF2B5,EIF4G1 | c.3576G>T (p.Glu1192Asp) c.3510G>T (p.Glu1170Asp) c.2923G>T (n.2923G>T) c.2979G>T (p.Glu993Asp) c.3579G>T (p.Glu1193Asp) c.3084G>T (p.Glu1028Asp) c.3597G>T (p.Glu1199Asp) c.3315G>T (p.Glu1105Asp) c.3459G>T (p.Glu1153Asp) c.3456G>T (p.Glu1152Asp) c.3318G>T (p.Glu1106Asp) c.2991G>T (p.Glu997Asp) c.2988G>T (p.Glu996Asp) c.3087G>T (p.Glu1029Asp) c.*3015G>T (n.*3015G>T) c.2106+182656G>T (n.2106+182656G>T) n.78G>T | |
3 | g.184327364C>A | CA437330577 | EIF2B5,EIF4G1 | c.3577C>A (p.Arg1193=) c.3511C>A (p.Arg1171=) c.2924C>A (n.2924C>A) c.2980C>A (p.Arg994=) c.3580C>A (p.Arg1194=) c.3085C>A (p.Arg1029=) c.3598C>A (p.Arg1200=) c.3316C>A (p.Arg1106=) c.3460C>A (p.Arg1154=) c.3457C>A (p.Arg1153=) c.3319C>A (p.Arg1107=) c.2992C>A (p.Arg998=) c.2989C>A (p.Arg997=) c.3088C>A (p.Arg1030=) c.*3016C>A (n.*3016C>A) c.2106+182657C>A (n.2106+182657C>A) n.79C>A | |
3 | g.184327364C= | CA1425958336 | EIF2B5,EIF4G1 | c.3577C= (p.Arg1193=) c.3511C= (p.Arg1171=) c.2924C= (n.2924C=) c.2980C= (p.Arg994=) c.3580C= (p.Arg1194=) c.3085C= (p.Arg1029=) c.3598C= (p.Arg1200=) c.3316C= (p.Arg1106=) c.3460C= (p.Arg1154=) c.3457C= (p.Arg1153=) c.3319C= (p.Arg1107=) c.2992C= (p.Arg998=) c.2989C= (p.Arg997=) c.3088C= (p.Arg1030=) c.*3016C= (n.*3016C=) c.2106+182657C= (n.2106+182657C=) n.79C= | |
3 | g.184327364C>G | CA355415054 | EIF2B5,EIF4G1 | c.3577C>G (p.Arg1193Gly) c.3511C>G (p.Arg1171Gly) c.2924C>G (n.2924C>G) c.2980C>G (p.Arg994Gly) c.3580C>G (p.Arg1194Gly) c.3085C>G (p.Arg1029Gly) c.3598C>G (p.Arg1200Gly) c.3316C>G (p.Arg1106Gly) c.3460C>G (p.Arg1154Gly) c.3457C>G (p.Arg1153Gly) c.3319C>G (p.Arg1107Gly) c.2992C>G (p.Arg998Gly) c.2989C>G (p.Arg997Gly) c.3088C>G (p.Arg1030Gly) c.*3016C>G (n.*3016C>G) c.2106+182657C>G (n.2106+182657C>G) n.79C>G | |
3 | g.184327364C>T | CA2732848 | EIF2B5,EIF4G1 | c.3577C>T (p.Arg1193Trp) c.3511C>T (p.Arg1171Trp) c.2924C>T (n.2924C>T) c.2980C>T (p.Arg994Trp) c.3580C>T (p.Arg1194Trp) c.3085C>T (p.Arg1029Trp) c.3598C>T (p.Arg1200Trp) c.3316C>T (p.Arg1106Trp) c.3460C>T (p.Arg1154Trp) c.3457C>T (p.Arg1153Trp) c.3319C>T (p.Arg1107Trp) c.2992C>T (p.Arg998Trp) c.2989C>T (p.Arg997Trp) c.3088C>T (p.Arg1030Trp) c.*3016C>T (n.*3016C>T) c.2106+182657C>T (n.2106+182657C>T) n.79C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.184327365G>A | CA355415060 | EIF2B5,EIF4G1 | c.3578G>A (p.Arg1193Gln) c.3512G>A (p.Arg1171Gln) c.2925G>A (n.2925G>A) c.2981G>A (p.Arg994Gln) c.3581G>A (p.Arg1194Gln) c.3086G>A (p.Arg1029Gln) c.3599G>A (p.Arg1200Gln) c.3317G>A (p.Arg1106Gln) c.3461G>A (p.Arg1154Gln) c.3458G>A (p.Arg1153Gln) c.3320G>A (p.Arg1107Gln) c.2993G>A (p.Arg998Gln) c.2990G>A (p.Arg997Gln) c.3089G>A (p.Arg1030Gln) c.*3017G>A (n.*3017G>A) c.2106+182658G>A (n.2106+182658G>A) n.80G>A | dbSNP gnomAD v3 gnomAD v4 COSMIC |
3 | g.184327365G>C | CA355415062 | EIF2B5,EIF4G1 | c.3578G>C (p.Arg1193Pro) c.3512G>C (p.Arg1171Pro) c.2925G>C (n.2925G>C) c.2981G>C (p.Arg994Pro) c.3581G>C (p.Arg1194Pro) c.3086G>C (p.Arg1029Pro) c.3599G>C (p.Arg1200Pro) c.3317G>C (p.Arg1106Pro) c.3461G>C (p.Arg1154Pro) c.3458G>C (p.Arg1153Pro) c.3320G>C (p.Arg1107Pro) c.2993G>C (p.Arg998Pro) c.2990G>C (p.Arg997Pro) c.3089G>C (p.Arg1030Pro) c.*3017G>C (n.*3017G>C) c.2106+182658G>C (n.2106+182658G>C) n.80G>C | |
3 | g.184327365G= | CA1425958338 | EIF2B5,EIF4G1 | c.3578G= (p.Arg1193=) c.3512G= (p.Arg1171=) c.2925G= (n.2925G=) c.2981G= (p.Arg994=) c.3581G= (p.Arg1194=) c.3086G= (p.Arg1029=) c.3599G= (p.Arg1200=) c.3317G= (p.Arg1106=) c.3461G= (p.Arg1154=) c.3458G= (p.Arg1153=) c.3320G= (p.Arg1107=) c.2993G= (p.Arg998=) c.2990G= (p.Arg997=) c.3089G= (p.Arg1030=) c.*3017G= (n.*3017G=) c.2106+182658G= (n.2106+182658G=) n.80G= | |
3 | g.184327365G>T | CA355415058 | EIF2B5,EIF4G1 | c.3578G>T (p.Arg1193Leu) c.3512G>T (p.Arg1171Leu) c.2925G>T (n.2925G>T) c.2981G>T (p.Arg994Leu) c.3581G>T (p.Arg1194Leu) c.3086G>T (p.Arg1029Leu) c.3599G>T (p.Arg1200Leu) c.3317G>T (p.Arg1106Leu) c.3461G>T (p.Arg1154Leu) c.3458G>T (p.Arg1153Leu) c.3320G>T (p.Arg1107Leu) c.2993G>T (p.Arg998Leu) c.2990G>T (p.Arg997Leu) c.3089G>T (p.Arg1030Leu) c.*3017G>T (n.*3017G>T) c.2106+182658G>T (n.2106+182658G>T) n.80G>T | |
3 | g.184327366G>A | CA437330580 | EIF2B5,EIF4G1 | c.3579G>A (p.Arg1193=) c.3513G>A (p.Arg1171=) c.2926G>A (n.2926G>A) c.2982G>A (p.Arg994=) c.3582G>A (p.Arg1194=) c.3087G>A (p.Arg1029=) c.3600G>A (p.Arg1200=) c.3318G>A (p.Arg1106=) c.3462G>A (p.Arg1154=) c.3459G>A (p.Arg1153=) c.3321G>A (p.Arg1107=) c.2994G>A (p.Arg998=) c.2991G>A (p.Arg997=) c.3090G>A (p.Arg1030=) c.*3018G>A (n.*3018G>A) c.2106+182659G>A (n.2106+182659G>A) n.81G>A | |
3 | g.184327366G>C | CA437330582 | EIF2B5,EIF4G1 | c.3579G>C (p.Arg1193=) c.3513G>C (p.Arg1171=) c.2926G>C (n.2926G>C) c.2982G>C (p.Arg994=) c.3582G>C (p.Arg1194=) c.3087G>C (p.Arg1029=) c.3600G>C (p.Arg1200=) c.3318G>C (p.Arg1106=) c.3462G>C (p.Arg1154=) c.3459G>C (p.Arg1153=) c.3321G>C (p.Arg1107=) c.2994G>C (p.Arg998=) c.2991G>C (p.Arg997=) c.3090G>C (p.Arg1030=) c.*3018G>C (n.*3018G>C) c.2106+182659G>C (n.2106+182659G>C) n.81G>C | |
3 | g.184327366G>T | CA437330581 | EIF2B5,EIF4G1 | c.3579G>T (p.Arg1193=) c.3513G>T (p.Arg1171=) c.2926G>T (n.2926G>T) c.2982G>T (p.Arg994=) c.3582G>T (p.Arg1194=) c.3087G>T (p.Arg1029=) c.3600G>T (p.Arg1200=) c.3318G>T (p.Arg1106=) c.3462G>T (p.Arg1154=) c.3459G>T (p.Arg1153=) c.3321G>T (p.Arg1107=) c.2994G>T (p.Arg998=) c.2991G>T (p.Arg997=) c.3090G>T (p.Arg1030=) c.*3018G>T (n.*3018G>T) c.2106+182659G>T (n.2106+182659G>T) n.81G>T | |
3 | g.184327367A= | CA1425958341 | EIF2B5,EIF4G1 | c.3580A= (p.Ser1194=) c.3514A= (p.Ser1172=) c.2927A= (n.2927A=) c.2983A= (p.Ser995=) c.3583A= (p.Ser1195=) c.3088A= (p.Ser1030=) c.3601A= (p.Ser1201=) c.3319A= (p.Ser1107=) c.3463A= (p.Ser1155=) c.3460A= (p.Ser1154=) c.3322A= (p.Ser1108=) c.2995A= (p.Ser999=) c.2992A= (p.Ser998=) c.3091A= (p.Ser1031=) c.*3019A= (n.*3019A=) c.2106+182660A= (n.2106+182660A=) n.82A= | |
3 | g.184327367A>C | CA355415066 | EIF2B5,EIF4G1 | c.3580A>C (p.Ser1194Arg) c.3514A>C (p.Ser1172Arg) c.2927A>C (n.2927A>C) c.2983A>C (p.Ser995Arg) c.3583A>C (p.Ser1195Arg) c.3088A>C (p.Ser1030Arg) c.3601A>C (p.Ser1201Arg) c.3319A>C (p.Ser1107Arg) c.3463A>C (p.Ser1155Arg) c.3460A>C (p.Ser1154Arg) c.3322A>C (p.Ser1108Arg) c.2995A>C (p.Ser999Arg) c.2992A>C (p.Ser998Arg) c.3091A>C (p.Ser1031Arg) c.*3019A>C (n.*3019A>C) c.2106+182660A>C (n.2106+182660A>C) n.82A>C | dbSNP gnomAD v4 |
3 | g.184327367A>G | CA355415071 | EIF2B5,EIF4G1 | c.3580A>G (p.Ser1194Gly) c.3514A>G (p.Ser1172Gly) c.2927A>G (n.2927A>G) c.2983A>G (p.Ser995Gly) c.3583A>G (p.Ser1195Gly) c.3088A>G (p.Ser1030Gly) c.3601A>G (p.Ser1201Gly) c.3319A>G (p.Ser1107Gly) c.3463A>G (p.Ser1155Gly) c.3460A>G (p.Ser1154Gly) c.3322A>G (p.Ser1108Gly) c.2995A>G (p.Ser999Gly) c.2992A>G (p.Ser998Gly) c.3091A>G (p.Ser1031Gly) c.*3019A>G (n.*3019A>G) c.2106+182660A>G (n.2106+182660A>G) n.82A>G | dbSNP gnomAD v2 gnomAD v4 |
3 | g.184327367A>T | CA355415068 | EIF2B5,EIF4G1 | c.3580A>T (p.Ser1194Cys) c.3514A>T (p.Ser1172Cys) c.2927A>T (n.2927A>T) c.2983A>T (p.Ser995Cys) c.3583A>T (p.Ser1195Cys) c.3088A>T (p.Ser1030Cys) c.3601A>T (p.Ser1201Cys) c.3319A>T (p.Ser1107Cys) c.3463A>T (p.Ser1155Cys) c.3460A>T (p.Ser1154Cys) c.3322A>T (p.Ser1108Cys) c.2995A>T (p.Ser999Cys) c.2992A>T (p.Ser998Cys) c.3091A>T (p.Ser1031Cys) c.*3019A>T (n.*3019A>T) c.2106+182660A>T (n.2106+182660A>T) n.82A>T | |
3 | g.184327368G>A | CA88867618 | EIF2B5,EIF4G1 | c.3581G>A (p.Ser1194Asn) c.3515G>A (p.Ser1172Asn) c.2928G>A (n.2928G>A) c.2984G>A (p.Ser995Asn) c.3584G>A (p.Ser1195Asn) c.3089G>A (p.Ser1030Asn) c.3602G>A (p.Ser1201Asn) c.3320G>A (p.Ser1107Asn) c.3464G>A (p.Ser1155Asn) c.3461G>A (p.Ser1154Asn) c.3323G>A (p.Ser1108Asn) c.2996G>A (p.Ser999Asn) c.2993G>A (p.Ser998Asn) c.3092G>A (p.Ser1031Asn) c.*3020G>A (n.*3020G>A) c.2106+182661G>A (n.2106+182661G>A) n.83G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.184327368G>C | CA2732849 | EIF2B5,EIF4G1 | c.3581G>C (p.Ser1194Thr) c.3515G>C (p.Ser1172Thr) c.2928G>C (n.2928G>C) c.2984G>C (p.Ser995Thr) c.3584G>C (p.Ser1195Thr) c.3089G>C (p.Ser1030Thr) c.3602G>C (p.Ser1201Thr) c.3320G>C (p.Ser1107Thr) c.3464G>C (p.Ser1155Thr) c.3461G>C (p.Ser1154Thr) c.3323G>C (p.Ser1108Thr) c.2996G>C (p.Ser999Thr) c.2993G>C (p.Ser998Thr) c.3092G>C (p.Ser1031Thr) c.*3020G>C (n.*3020G>C) c.2106+182661G>C (n.2106+182661G>C) n.83G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.184327368G= | CA1425958346 | EIF2B5,EIF4G1 | c.3581G= (p.Ser1194=) c.3515G= (p.Ser1172=) c.2928G= (n.2928G=) c.2984G= (p.Ser995=) c.3584G= (p.Ser1195=) c.3089G= (p.Ser1030=) c.3602G= (p.Ser1201=) c.3320G= (p.Ser1107=) c.3464G= (p.Ser1155=) c.3461G= (p.Ser1154=) c.3323G= (p.Ser1108=) c.2996G= (p.Ser999=) c.2993G= (p.Ser998=) c.3092G= (p.Ser1031=) c.*3020G= (n.*3020G=) c.2106+182661G= (n.2106+182661G=) n.83G= | |
3 | g.184327368G>T | CA355415082 | EIF2B5,EIF4G1 | c.3581G>T (p.Ser1194Ile) c.3515G>T (p.Ser1172Ile) c.2928G>T (n.2928G>T) c.2984G>T (p.Ser995Ile) c.3584G>T (p.Ser1195Ile) c.3089G>T (p.Ser1030Ile) c.3602G>T (p.Ser1201Ile) c.3320G>T (p.Ser1107Ile) c.3464G>T (p.Ser1155Ile) c.3461G>T (p.Ser1154Ile) c.3323G>T (p.Ser1108Ile) c.2996G>T (p.Ser999Ile) c.2993G>T (p.Ser998Ile) c.3092G>T (p.Ser1031Ile) c.*3020G>T (n.*3020G>T) c.2106+182661G>T (n.2106+182661G>T) n.83G>T | |
3 | g.184327369T>A | CA355415085 | EIF2B5,EIF4G1 | c.3582T>A (p.Ser1194Arg) c.3516T>A (p.Ser1172Arg) c.2929T>A (n.2929T>A) c.2985T>A (p.Ser995Arg) c.3585T>A (p.Ser1195Arg) c.3090T>A (p.Ser1030Arg) c.3603T>A (p.Ser1201Arg) c.3321T>A (p.Ser1107Arg) c.3465T>A (p.Ser1155Arg) c.3462T>A (p.Ser1154Arg) c.3324T>A (p.Ser1108Arg) c.2997T>A (p.Ser999Arg) c.2994T>A (p.Ser998Arg) c.3093T>A (p.Ser1031Arg) c.*3021T>A (n.*3021T>A) c.2106+182662T>A (n.2106+182662T>A) n.84T>A | |
3 | g.184327369T>C | CA437330586 | EIF2B5,EIF4G1 | c.3582T>C (p.Ser1194=) c.3516T>C (p.Ser1172=) c.2929T>C (n.2929T>C) c.2985T>C (p.Ser995=) c.3585T>C (p.Ser1195=) c.3090T>C (p.Ser1030=) c.3603T>C (p.Ser1201=) c.3321T>C (p.Ser1107=) c.3465T>C (p.Ser1155=) c.3462T>C (p.Ser1154=) c.3324T>C (p.Ser1108=) c.2997T>C (p.Ser999=) c.2994T>C (p.Ser998=) c.3093T>C (p.Ser1031=) c.*3021T>C (n.*3021T>C) c.2106+182662T>C (n.2106+182662T>C) n.84T>C | |
3 | g.184327369T>G | CA355415088 | EIF2B5,EIF4G1 | c.3582T>G (p.Ser1194Arg) c.3516T>G (p.Ser1172Arg) c.2929T>G (n.2929T>G) c.2985T>G (p.Ser995Arg) c.3585T>G (p.Ser1195Arg) c.3090T>G (p.Ser1030Arg) c.3603T>G (p.Ser1201Arg) c.3321T>G (p.Ser1107Arg) c.3465T>G (p.Ser1155Arg) c.3462T>G (p.Ser1154Arg) c.3324T>G (p.Ser1108Arg) c.2997T>G (p.Ser999Arg) c.2994T>G (p.Ser998Arg) c.3093T>G (p.Ser1031Arg) c.*3021T>G (n.*3021T>G) c.2106+182662T>G (n.2106+182662T>G) n.84T>G | |
3 | g.184327370A= | CA1425958351 | EIF2B5,EIF4G1 | c.3583A= (p.Arg1195=) c.3517A= (p.Arg1173=) c.2930A= (n.2930A=) c.2986A= (p.Arg996=) c.3586A= (p.Arg1196=) c.3091A= (p.Arg1031=) c.3604A= (p.Arg1202=) c.3322A= (p.Arg1108=) c.3466A= (p.Arg1156=) c.3463A= (p.Arg1155=) c.3325A= (p.Arg1109=) c.2998A= (p.Arg1000=) c.2995A= (p.Arg999=) c.3094A= (p.Arg1032=) c.*3022A= (n.*3022A=) c.2106+182663A= (n.2106+182663A=) n.85A= | |
3 | g.184327370A>C | CA437330587 | EIF2B5,EIF4G1 | c.3583A>C (p.Arg1195=) c.3517A>C (p.Arg1173=) c.2930A>C (n.2930A>C) c.2986A>C (p.Arg996=) c.3586A>C (p.Arg1196=) c.3091A>C (p.Arg1031=) c.3604A>C (p.Arg1202=) c.3322A>C (p.Arg1108=) c.3466A>C (p.Arg1156=) c.3463A>C (p.Arg1155=) c.3325A>C (p.Arg1109=) c.2998A>C (p.Arg1000=) c.2995A>C (p.Arg999=) c.3094A>C (p.Arg1032=) c.*3022A>C (n.*3022A>C) c.2106+182663A>C (n.2106+182663A>C) n.85A>C | |
3 | g.184327370A>G | CA2732850 | EIF2B5,EIF4G1 | c.3583A>G (p.Arg1195Gly) c.3517A>G (p.Arg1173Gly) c.2930A>G (n.2930A>G) c.2986A>G (p.Arg996Gly) c.3586A>G (p.Arg1196Gly) c.3091A>G (p.Arg1031Gly) c.3604A>G (p.Arg1202Gly) c.3322A>G (p.Arg1108Gly) c.3466A>G (p.Arg1156Gly) c.3463A>G (p.Arg1155Gly) c.3325A>G (p.Arg1109Gly) c.2998A>G (p.Arg1000Gly) c.2995A>G (p.Arg999Gly) c.3094A>G (p.Arg1032Gly) c.*3022A>G (n.*3022A>G) c.2106+182663A>G (n.2106+182663A>G) n.85A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.184327370A>T | CA355415096 | EIF2B5,EIF4G1 | c.3583A>T (p.Arg1195Ter) c.3517A>T (p.Arg1173Ter) c.2930A>T (n.2930A>T) c.2986A>T (p.Arg996Ter) c.3586A>T (p.Arg1196Ter) c.3091A>T (p.Arg1031Ter) c.3604A>T (p.Arg1202Ter) c.3322A>T (p.Arg1108Ter) c.3466A>T (p.Arg1156Ter) c.3463A>T (p.Arg1155Ter) c.3325A>T (p.Arg1109Ter) c.2998A>T (p.Arg1000Ter) c.2995A>T (p.Arg999Ter) c.3094A>T (p.Arg1032Ter) c.*3022A>T (n.*3022A>T) c.2106+182663A>T (n.2106+182663A>T) n.85A>T | |
3 | g.184327371G>A | CA355415099 | EIF2B5,EIF4G1 | c.3584G>A (p.Arg1195Lys) c.3518G>A (p.Arg1173Lys) c.2931G>A (n.2931G>A) c.2987G>A (p.Arg996Lys) c.3587G>A (p.Arg1196Lys) c.3092G>A (p.Arg1031Lys) c.3605G>A (p.Arg1202Lys) c.3323G>A (p.Arg1108Lys) c.3467G>A (p.Arg1156Lys) c.3464G>A (p.Arg1155Lys) c.3326G>A (p.Arg1109Lys) c.2999G>A (p.Arg1000Lys) c.2996G>A (p.Arg999Lys) c.3095G>A (p.Arg1032Lys) c.*3023G>A (n.*3023G>A) c.2106+182664G>A (n.2106+182664G>A) n.86G>A | |
3 | g.184327371G>C | CA355415101 | EIF2B5,EIF4G1 | c.3584G>C (p.Arg1195Thr) c.3518G>C (p.Arg1173Thr) c.2931G>C (n.2931G>C) c.2987G>C (p.Arg996Thr) c.3587G>C (p.Arg1196Thr) c.3092G>C (p.Arg1031Thr) c.3605G>C (p.Arg1202Thr) c.3323G>C (p.Arg1108Thr) c.3467G>C (p.Arg1156Thr) c.3464G>C (p.Arg1155Thr) c.3326G>C (p.Arg1109Thr) c.2999G>C (p.Arg1000Thr) c.2996G>C (p.Arg999Thr) c.3095G>C (p.Arg1032Thr) c.*3023G>C (n.*3023G>C) c.2106+182664G>C (n.2106+182664G>C) n.86G>C | |
3 | g.184327371G>T | CA355415103 | EIF2B5,EIF4G1 | c.3584G>T (p.Arg1195Ile) c.3518G>T (p.Arg1173Ile) c.2931G>T (n.2931G>T) c.2987G>T (p.Arg996Ile) c.3587G>T (p.Arg1196Ile) c.3092G>T (p.Arg1031Ile) c.3605G>T (p.Arg1202Ile) c.3323G>T (p.Arg1108Ile) c.3467G>T (p.Arg1156Ile) c.3464G>T (p.Arg1155Ile) c.3326G>T (p.Arg1109Ile) c.2999G>T (p.Arg1000Ile) c.2996G>T (p.Arg999Ile) c.3095G>T (p.Arg1032Ile) c.*3023G>T (n.*3023G>T) c.2106+182664G>T (n.2106+182664G>T) n.86G>T | |
3 | g.184327372A>C | CA355415109 | EIF2B5,EIF4G1 | c.3585A>C (p.Arg1195Ser) c.3519A>C (p.Arg1173Ser) c.2932A>C (n.2932A>C) c.2988A>C (p.Arg996Ser) c.3588A>C (p.Arg1196Ser) c.3093A>C (p.Arg1031Ser) c.3606A>C (p.Arg1202Ser) c.3324A>C (p.Arg1108Ser) c.3468A>C (p.Arg1156Ser) c.3465A>C (p.Arg1155Ser) c.3327A>C (p.Arg1109Ser) c.3000A>C (p.Arg1000Ser) c.2997A>C (p.Arg999Ser) c.3096A>C (p.Arg1032Ser) c.*3024A>C (n.*3024A>C) c.2106+182665A>C (n.2106+182665A>C) n.87A>C | |
3 | g.184327372A>G | CA437330591 | EIF2B5,EIF4G1 | c.3585A>G (p.Arg1195=) c.3519A>G (p.Arg1173=) c.2932A>G (n.2932A>G) c.2988A>G (p.Arg996=) c.3588A>G (p.Arg1196=) c.3093A>G (p.Arg1031=) c.3606A>G (p.Arg1202=) c.3324A>G (p.Arg1108=) c.3468A>G (p.Arg1156=) c.3465A>G (p.Arg1155=) c.3327A>G (p.Arg1109=) c.3000A>G (p.Arg1000=) c.2997A>G (p.Arg999=) c.3096A>G (p.Arg1032=) c.*3024A>G (n.*3024A>G) c.2106+182665A>G (n.2106+182665A>G) n.87A>G | gnomAD v4 |
3 | g.184327372A>T | CA355415112 | EIF2B5,EIF4G1 | c.3585A>T (p.Arg1195Ser) c.3519A>T (p.Arg1173Ser) c.2932A>T (n.2932A>T) c.2988A>T (p.Arg996Ser) c.3588A>T (p.Arg1196Ser) c.3093A>T (p.Arg1031Ser) c.3606A>T (p.Arg1202Ser) c.3324A>T (p.Arg1108Ser) c.3468A>T (p.Arg1156Ser) c.3465A>T (p.Arg1155Ser) c.3327A>T (p.Arg1109Ser) c.3000A>T (p.Arg1000Ser) c.2997A>T (p.Arg999Ser) c.3096A>T (p.Arg1032Ser) c.*3024A>T (n.*3024A>T) c.2106+182665A>T (n.2106+182665A>T) n.87A>T | |
3 | g.184327373G>A | CA355415116 | EIF2B5,EIF4G1 | c.3586G>A (p.Glu1196Lys) c.3520G>A (p.Glu1174Lys) c.2933G>A (n.2933G>A) c.2989G>A (p.Glu997Lys) c.3589G>A (p.Glu1197Lys) c.3094G>A (p.Glu1032Lys) c.3607G>A (p.Glu1203Lys) c.3325G>A (p.Glu1109Lys) c.3469G>A (p.Glu1157Lys) c.3466G>A (p.Glu1156Lys) c.3328G>A (p.Glu1110Lys) c.3001G>A (p.Glu1001Lys) c.2998G>A (p.Glu1000Lys) c.3097G>A (p.Glu1033Lys) c.*3025G>A (n.*3025G>A) c.2106+182666G>A (n.2106+182666G>A) n.88G>A | |
3 | g.184327373G>C | CA355415121 | EIF2B5,EIF4G1 | c.3586G>C (p.Glu1196Gln) c.3520G>C (p.Glu1174Gln) c.2933G>C (n.2933G>C) c.2989G>C (p.Glu997Gln) c.3589G>C (p.Glu1197Gln) c.3094G>C (p.Glu1032Gln) c.3607G>C (p.Glu1203Gln) c.3325G>C (p.Glu1109Gln) c.3469G>C (p.Glu1157Gln) c.3466G>C (p.Glu1156Gln) c.3328G>C (p.Glu1110Gln) c.3001G>C (p.Glu1001Gln) c.2998G>C (p.Glu1000Gln) c.3097G>C (p.Glu1033Gln) c.*3025G>C (n.*3025G>C) c.2106+182666G>C (n.2106+182666G>C) n.88G>C | |
3 | g.184327373G>T | CA355415119 | EIF2B5,EIF4G1 | c.3586G>T (p.Glu1196Ter) c.3520G>T (p.Glu1174Ter) c.2933G>T (n.2933G>T) c.2989G>T (p.Glu997Ter) c.3589G>T (p.Glu1197Ter) c.3094G>T (p.Glu1032Ter) c.3607G>T (p.Glu1203Ter) c.3325G>T (p.Glu1109Ter) c.3469G>T (p.Glu1157Ter) c.3466G>T (p.Glu1156Ter) c.3328G>T (p.Glu1110Ter) c.3001G>T (p.Glu1001Ter) c.2998G>T (p.Glu1000Ter) c.3097G>T (p.Glu1033Ter) c.*3025G>T (n.*3025G>T) c.2106+182666G>T (n.2106+182666G>T) n.88G>T | |
3 | g.184327374A= | CA1425958353 | EIF2B5,EIF4G1 | c.3587A= (p.Glu1196=) c.3521A= (p.Glu1174=) c.2934A= (n.2934A=) c.2990A= (p.Glu997=) c.3590A= (p.Glu1197=) c.3095A= (p.Glu1032=) c.3608A= (p.Glu1203=) c.3326A= (p.Glu1109=) c.3470A= (p.Glu1157=) c.3467A= (p.Glu1156=) c.3329A= (p.Glu1110=) c.3002A= (p.Glu1001=) c.2999A= (p.Glu1000=) c.3098A= (p.Glu1033=) c.*3026A= (n.*3026A=) c.2106+182667A= (n.2106+182667A=) n.89A= | |
3 | g.184327374A>C | CA2732851 | EIF2B5,EIF4G1 | c.3587A>C (p.Glu1196Ala) c.3521A>C (p.Glu1174Ala) c.2934A>C (n.2934A>C) c.2990A>C (p.Glu997Ala) c.3590A>C (p.Glu1197Ala) c.3095A>C (p.Glu1032Ala) c.3608A>C (p.Glu1203Ala) c.3326A>C (p.Glu1109Ala) c.3470A>C (p.Glu1157Ala) c.3467A>C (p.Glu1156Ala) c.3329A>C (p.Glu1110Ala) c.3002A>C (p.Glu1001Ala) c.2999A>C (p.Glu1000Ala) c.3098A>C (p.Glu1033Ala) c.*3026A>C (n.*3026A>C) c.2106+182667A>C (n.2106+182667A>C) n.89A>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.184327374A>G | CA2732852 | EIF2B5,EIF4G1 | c.3587A>G (p.Glu1196Gly) c.3521A>G (p.Glu1174Gly) c.2934A>G (n.2934A>G) c.2990A>G (p.Glu997Gly) c.3590A>G (p.Glu1197Gly) c.3095A>G (p.Glu1032Gly) c.3608A>G (p.Glu1203Gly) c.3326A>G (p.Glu1109Gly) c.3470A>G (p.Glu1157Gly) c.3467A>G (p.Glu1156Gly) c.3329A>G (p.Glu1110Gly) c.3002A>G (p.Glu1001Gly) c.2999A>G (p.Glu1000Gly) c.3098A>G (p.Glu1033Gly) c.*3026A>G (n.*3026A>G) c.2106+182667A>G (n.2106+182667A>G) n.89A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.184327374A>T | CA355415129 | EIF2B5,EIF4G1 | c.3587A>T (p.Glu1196Val) c.3521A>T (p.Glu1174Val) c.2934A>T (n.2934A>T) c.2990A>T (p.Glu997Val) c.3590A>T (p.Glu1197Val) c.3095A>T (p.Glu1032Val) c.3608A>T (p.Glu1203Val) c.3326A>T (p.Glu1109Val) c.3470A>T (p.Glu1157Val) c.3467A>T (p.Glu1156Val) c.3329A>T (p.Glu1110Val) c.3002A>T (p.Glu1001Val) c.2999A>T (p.Glu1000Val) c.3098A>T (p.Glu1033Val) c.*3026A>T (n.*3026A>T) c.2106+182667A>T (n.2106+182667A>T) n.89A>T | |
3 | g.184327375A= | CA1425958356 | EIF2B5,EIF4G1 | c.3588A= (p.Glu1196=) c.3522A= (p.Glu1174=) c.2935A= (n.2935A=) c.2991A= (p.Glu997=) c.3591A= (p.Glu1197=) c.3096A= (p.Glu1032=) c.3609A= (p.Glu1203=) c.3327A= (p.Glu1109=) c.3471A= (p.Glu1157=) c.3468A= (p.Glu1156=) c.3330A= (p.Glu1110=) c.3003A= (p.Glu1001=) c.3000A= (p.Glu1000=) c.3099A= (p.Glu1033=) c.*3027A= (n.*3027A=) c.2106+182668A= (n.2106+182668A=) n.90A= | |
3 | g.184327375A>C | CA355415134 | EIF2B5,EIF4G1 | c.3588A>C (p.Glu1196Asp) c.3522A>C (p.Glu1174Asp) c.2935A>C (n.2935A>C) c.2991A>C (p.Glu997Asp) c.3591A>C (p.Glu1197Asp) c.3096A>C (p.Glu1032Asp) c.3609A>C (p.Glu1203Asp) c.3327A>C (p.Glu1109Asp) c.3471A>C (p.Glu1157Asp) c.3468A>C (p.Glu1156Asp) c.3330A>C (p.Glu1110Asp) c.3003A>C (p.Glu1001Asp) c.3000A>C (p.Glu1000Asp) c.3099A>C (p.Glu1033Asp) c.*3027A>C (n.*3027A>C) c.2106+182668A>C (n.2106+182668A>C) n.90A>C | |
3 | g.184327375A>G | CA437330594 | EIF2B5,EIF4G1 | c.3588A>G (p.Glu1196=) c.3522A>G (p.Glu1174=) c.2935A>G (n.2935A>G) c.2991A>G (p.Glu997=) c.3591A>G (p.Glu1197=) c.3096A>G (p.Glu1032=) c.3609A>G (p.Glu1203=) c.3327A>G (p.Glu1109=) c.3471A>G (p.Glu1157=) c.3468A>G (p.Glu1156=) c.3330A>G (p.Glu1110=) c.3003A>G (p.Glu1001=) c.3000A>G (p.Glu1000=) c.3099A>G (p.Glu1033=) c.*3027A>G (n.*3027A>G) c.2106+182668A>G (n.2106+182668A>G) n.90A>G | dbSNP gnomAD v2 gnomAD v4 |
3 | g.184327375A>T | CA355415138 | EIF2B5,EIF4G1 | c.3588A>T (p.Glu1196Asp) c.3522A>T (p.Glu1174Asp) c.2935A>T (n.2935A>T) c.2991A>T (p.Glu997Asp) c.3591A>T (p.Glu1197Asp) c.3096A>T (p.Glu1032Asp) c.3609A>T (p.Glu1203Asp) c.3327A>T (p.Glu1109Asp) c.3471A>T (p.Glu1157Asp) c.3468A>T (p.Glu1156Asp) c.3330A>T (p.Glu1110Asp) c.3003A>T (p.Glu1001Asp) c.3000A>T (p.Glu1000Asp) c.3099A>T (p.Glu1033Asp) c.*3027A>T (n.*3027A>T) c.2106+182668A>T (n.2106+182668A>T) n.90A>T | |
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 |