Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.184327263_184327289del | CA2759716609 | EIF2B5,EIF4G1 | c.3476_3502del (p.Asp1159_Gly1167del) c.3410_3436del (p.Asp1137_Gly1145del) c.2823_2849del (n.2823_2849del) c.2882_2907del c.3479_3505del (p.Asp1160_Gly1168del) c.2984_3010del (p.Asp995_Gly1003del) c.3497_3523del (p.Asp1166_Gly1174del) c.3215_3241del (p.Asp1072_Gly1080del) c.3359_3385del (p.Asp1120_Gly1128del) c.3356_3382del (p.Asp1119_Gly1127del) c.3218_3244del (p.Asp1073_Gly1081del) c.2891_2917del (p.Asp964_Gly972del) c.2888_2914del (p.Asp963_Gly971del) c.2987_3013del (p.Asp996_Gly1004del) c.*2915_*2941del (n.*2915_*2941del) c.2106+182556_2106+182582del (n.2106+182556_2106+182582del) c.637_663del | |
3 | g.184327286G>A | CA355414312 | EIF2B5,EIF4G1 | c.3499G>A (p.Gly1167Arg) c.3433G>A (p.Gly1145Arg) c.2846G>A (n.2846G>A) c.2904G>A (p.Gly968=) c.3502G>A (p.Gly1168Arg) c.3007G>A (p.Gly1003Arg) c.3520G>A (p.Gly1174Arg) c.3238G>A (p.Gly1080Arg) c.3382G>A (p.Gly1128Arg) c.3379G>A (p.Gly1127Arg) c.3241G>A (p.Gly1081Arg) c.2914G>A (p.Gly972Arg) c.2911G>A (p.Gly971Arg) c.3010G>A (p.Gly1004Arg) c.*2938G>A (n.*2938G>A) c.2106+182579G>A (n.2106+182579G>A) c.660G>A n.1G>A | dbSNP |
3 | g.184327286G>C | CA355414306 | EIF2B5,EIF4G1 | c.3499G>C (p.Gly1167Arg) c.3433G>C (p.Gly1145Arg) c.2846G>C (n.2846G>C) c.2904G>C (p.Gly968=) c.3502G>C (p.Gly1168Arg) c.3007G>C (p.Gly1003Arg) c.3520G>C (p.Gly1174Arg) c.3238G>C (p.Gly1080Arg) c.3382G>C (p.Gly1128Arg) c.3379G>C (p.Gly1127Arg) c.3241G>C (p.Gly1081Arg) c.2914G>C (p.Gly972Arg) c.2911G>C (p.Gly971Arg) c.3010G>C (p.Gly1004Arg) c.*2938G>C (n.*2938G>C) c.2106+182579G>C (n.2106+182579G>C) c.660G>C n.1G>C | |
3 | g.184327286G= | CA1425958223 | EIF2B5,EIF4G1 | c.3499G= (p.Gly1167=) c.3433G= (p.Gly1145=) c.2846G= (n.2846G=) c.2904G= (p.Gly968=) c.3502G= (p.Gly1168=) c.3007G= (p.Gly1003=) c.3520G= (p.Gly1174=) c.3238G= (p.Gly1080=) c.3382G= (p.Gly1128=) c.3379G= (p.Gly1127=) c.3241G= (p.Gly1081=) c.2914G= (p.Gly972=) c.2911G= (p.Gly971=) c.3010G= (p.Gly1004=) c.*2938G= (n.*2938G=) c.2106+182579G= (n.2106+182579G=) c.660G= n.1G= | |
3 | g.184327286G>T | CA355414307 | EIF2B5,EIF4G1 | c.3499G>T (p.Gly1167Ter) c.3433G>T (p.Gly1145Ter) c.2846G>T (n.2846G>T) c.2904G>T (p.Gly968=) c.3502G>T (p.Gly1168Ter) c.3007G>T (p.Gly1003Ter) c.3520G>T (p.Gly1174Ter) c.3238G>T (p.Gly1080Ter) c.3382G>T (p.Gly1128Ter) c.3379G>T (p.Gly1127Ter) c.3241G>T (p.Gly1081Ter) c.2914G>T (p.Gly972Ter) c.2911G>T (p.Gly971Ter) c.3010G>T (p.Gly1004Ter) c.*2938G>T (n.*2938G>T) c.2106+182579G>T (n.2106+182579G>T) c.660G>T n.1G>T | |
3 | g.184327287G>A | CA355414315 | EIF2B5,EIF4G1 | c.3500G>A (p.Gly1167Glu) c.3434G>A (p.Gly1145Glu) c.2847G>A (n.2847G>A) c.2905G>A (p.Glu969Lys) c.3503G>A (p.Gly1168Glu) c.3008G>A (p.Gly1003Glu) c.3521G>A (p.Gly1174Glu) c.3239G>A (p.Gly1080Glu) c.3383G>A (p.Gly1128Glu) c.3380G>A (p.Gly1127Glu) c.3242G>A (p.Gly1081Glu) c.2915G>A (p.Gly972Glu) c.2912G>A (p.Gly971Glu) c.3011G>A (p.Gly1004Glu) c.*2939G>A (n.*2939G>A) c.2106+182580G>A (n.2106+182580G>A) c.661G>A n.2G>A | dbSNP |
3 | g.184327287G>C | CA355414327 | EIF2B5,EIF4G1 | c.3500G>C (p.Gly1167Ala) c.3434G>C (p.Gly1145Ala) c.2847G>C (n.2847G>C) c.2905G>C (p.Glu969Gln) c.3503G>C (p.Gly1168Ala) c.3008G>C (p.Gly1003Ala) c.3521G>C (p.Gly1174Ala) c.3239G>C (p.Gly1080Ala) c.3383G>C (p.Gly1128Ala) c.3380G>C (p.Gly1127Ala) c.3242G>C (p.Gly1081Ala) c.2915G>C (p.Gly972Ala) c.2912G>C (p.Gly971Ala) c.3011G>C (p.Gly1004Ala) c.*2939G>C (n.*2939G>C) c.2106+182580G>C (n.2106+182580G>C) c.661G>C n.2G>C | |
3 | g.184327287G= | CA1425958225 | EIF2B5,EIF4G1 | c.3500G= (p.Gly1167=) c.3434G= (p.Gly1145=) c.2847G= (n.2847G=) c.2905G= (p.Glu969=) c.3503G= (p.Gly1168=) c.3008G= (p.Gly1003=) c.3521G= (p.Gly1174=) c.3239G= (p.Gly1080=) c.3383G= (p.Gly1128=) c.3380G= (p.Gly1127=) c.3242G= (p.Gly1081=) c.2915G= (p.Gly972=) c.2912G= (p.Gly971=) c.3011G= (p.Gly1004=) c.*2939G= (n.*2939G=) c.2106+182580G= (n.2106+182580G=) c.661G= n.2G= | |
3 | g.184327287G>T | CA355414328 | EIF2B5,EIF4G1 | c.3500G>T (p.Gly1167Val) c.3434G>T (p.Gly1145Val) c.2847G>T (n.2847G>T) c.2905G>T (p.Glu969Ter) c.3503G>T (p.Gly1168Val) c.3008G>T (p.Gly1003Val) c.3521G>T (p.Gly1174Val) c.3239G>T (p.Gly1080Val) c.3383G>T (p.Gly1128Val) c.3380G>T (p.Gly1127Val) c.3242G>T (p.Gly1081Val) c.2915G>T (p.Gly972Val) c.2912G>T (p.Gly971Val) c.3011G>T (p.Gly1004Val) c.*2939G>T (n.*2939G>T) c.2106+182580G>T (n.2106+182580G>T) c.661G>T n.2G>T | gnomAD v4 |
3 | g.184327288A= | CA1425958228 | EIF2B5,EIF4G1 | c.3501A= (p.Gly1167=) c.3435A= (p.Gly1145=) c.2848A= (n.2848A=) c.2906A= (p.Glu969=) c.3504A= (p.Gly1168=) c.3009A= (p.Gly1003=) c.3522A= (p.Gly1174=) c.3240A= (p.Gly1080=) c.3384A= (p.Gly1128=) c.3381A= (p.Gly1127=) c.3243A= (p.Gly1081=) c.2916A= (p.Gly972=) c.2913A= (p.Gly971=) c.3012A= (p.Gly1004=) c.*2940A= (n.*2940A=) c.2106+182581A= (n.2106+182581A=) c.662A= n.3A= | |
3 | g.184327288A>C | CA355414332 | EIF2B5,EIF4G1 | c.3501A>C (p.Gly1167=) c.3435A>C (p.Gly1145=) c.2848A>C (n.2848A>C) c.2906A>C (p.Glu969Ala) c.3504A>C (p.Gly1168=) c.3009A>C (p.Gly1003=) c.3522A>C (p.Gly1174=) c.3240A>C (p.Gly1080=) c.3384A>C (p.Gly1128=) c.3381A>C (p.Gly1127=) c.3243A>C (p.Gly1081=) c.2916A>C (p.Gly972=) c.2913A>C (p.Gly971=) c.3012A>C (p.Gly1004=) c.*2940A>C (n.*2940A>C) c.2106+182581A>C (n.2106+182581A>C) c.662A>C n.3A>C | |
3 | g.184327288A>G | CA355414333 | EIF2B5,EIF4G1 | c.3501A>G (p.Gly1167=) c.3435A>G (p.Gly1145=) c.2848A>G (n.2848A>G) c.2906A>G (p.Glu969Gly) c.3504A>G (p.Gly1168=) c.3009A>G (p.Gly1003=) c.3522A>G (p.Gly1174=) c.3240A>G (p.Gly1080=) c.3384A>G (p.Gly1128=) c.3381A>G (p.Gly1127=) c.3243A>G (p.Gly1081=) c.2916A>G (p.Gly972=) c.2913A>G (p.Gly971=) c.3012A>G (p.Gly1004=) c.*2940A>G (n.*2940A>G) c.2106+182581A>G (n.2106+182581A>G) c.662A>G n.3A>G | dbSNP gnomAD v2 gnomAD v4 |
3 | g.184327288A>T | CA355414334 | EIF2B5,EIF4G1 | c.3501A>T (p.Gly1167=) c.3435A>T (p.Gly1145=) c.2848A>T (n.2848A>T) c.2906A>T (p.Glu969Val) c.3504A>T (p.Gly1168=) c.3009A>T (p.Gly1003=) c.3522A>T (p.Gly1174=) c.3240A>T (p.Gly1080=) c.3384A>T (p.Gly1128=) c.3381A>T (p.Gly1127=) c.3243A>T (p.Gly1081=) c.2916A>T (p.Gly972=) c.2913A>T (p.Gly971=) c.3012A>T (p.Gly1004=) c.*2940A>T (n.*2940A>T) c.2106+182581A>T (n.2106+182581A>T) c.662A>T n.3A>T | |
3 | g.184327288_184327297delinsAGGGGACCGT | CA1425958227 | EIF2B5,EIF4G1 | c.3501_3510delinsAGGGGACCGT (p.Gly1167=) c.3435_3444delinsAGGGGACCGT (p.Gly1145=) c.2848_2857delinsAGGGGACCGT (n.2848_2857delinsAGGGGACCGT) c.2906_2915delinsAGGGGACCGT (p.Glu969=) c.3504_3513delinsAGGGGACCGT (p.Gly1168=) c.3009_3018delinsAGGGGACCGT (p.Gly1003=) c.3522_3531delinsAGGGGACCGT (p.Gly1174=) c.3240_3249delinsAGGGGACCGT (p.Gly1080=) c.3384_3393delinsAGGGGACCGT (p.Gly1128=) c.3381_3390delinsAGGGGACCGT (p.Gly1127=) c.3243_3252delinsAGGGGACCGT (p.Gly1081=) c.2916_2925delinsAGGGGACCGT (p.Gly972=) c.2913_2922delinsAGGGGACCGT (p.Gly971=) c.3012_3021delinsAGGGGACCGT (p.Gly1004=) c.*2940_*2949delinsAGGGGACCGT (n.*2940_*2949delinsAGGGGACCGT) c.2106+182581_2106+182590delinsAGGGGACCGT (n.2106+182581_2106+182590delinsAGGGGACCGT) c.662_671delinsAGGGGACCGT n.3_12delinsAGGGGACCGT | |
3 | g.184327289G>A | CA355414336 | EIF2B5,EIF4G1 | c.3502G>A (p.Gly1168Arg) c.3436G>A (p.Gly1146Arg) c.2849G>A (n.2849G>A) c.2907G>A (p.Glu969=) c.3505G>A (p.Gly1169Arg) c.3010G>A (p.Gly1004Arg) c.3523G>A (p.Gly1175Arg) c.3241G>A (p.Gly1081Arg) c.3385G>A (p.Gly1129Arg) c.3382G>A (p.Gly1128Arg) c.3244G>A (p.Gly1082Arg) c.2917G>A (p.Gly973Arg) c.2914G>A (p.Gly972Arg) c.3013G>A (p.Gly1005Arg) c.*2941G>A (n.*2941G>A) c.2106+182582G>A (n.2106+182582G>A) c.663G>A n.4G>A | |
3 | g.184327289G>C | CA355414338 | EIF2B5,EIF4G1 | c.3502G>C (p.Gly1168Arg) c.3436G>C (p.Gly1146Arg) c.2849G>C (n.2849G>C) c.2907G>C (p.Glu969Asp) c.3505G>C (p.Gly1169Arg) c.3010G>C (p.Gly1004Arg) c.3523G>C (p.Gly1175Arg) c.3241G>C (p.Gly1081Arg) c.3385G>C (p.Gly1129Arg) c.3382G>C (p.Gly1128Arg) c.3244G>C (p.Gly1082Arg) c.2917G>C (p.Gly973Arg) c.2914G>C (p.Gly972Arg) c.3013G>C (p.Gly1005Arg) c.*2941G>C (n.*2941G>C) c.2106+182582G>C (n.2106+182582G>C) c.663G>C n.4G>C | |
3 | g.184327289G>T | CA355414342 | EIF2B5,EIF4G1 | c.3502G>T (p.Gly1168Trp) c.3436G>T (p.Gly1146Trp) c.2849G>T (n.2849G>T) c.2907G>T (p.Glu969Asp) c.3505G>T (p.Gly1169Trp) c.3010G>T (p.Gly1004Trp) c.3523G>T (p.Gly1175Trp) c.3241G>T (p.Gly1081Trp) c.3385G>T (p.Gly1129Trp) c.3382G>T (p.Gly1128Trp) c.3244G>T (p.Gly1082Trp) c.2917G>T (p.Gly973Trp) c.2914G>T (p.Gly972Trp) c.3013G>T (p.Gly1005Trp) c.*2941G>T (n.*2941G>T) c.2106+182582G>T (n.2106+182582G>T) c.663G>T n.4G>T | |
3 | g.184327297_184327305del | CA548795602 | EIF2B5,EIF4G1 | c.3510_3518del (p.Gly1171_Arg1173del) c.3444_3452del (p.Gly1149_Arg1151del) c.2857_2865del (n.2857_2865del) c.2915_2923del (p.Val972_Thr974del) c.3513_3521del (p.Gly1172_Arg1174del) c.3018_3026del (p.Gly1007_Arg1009del) c.3531_3539del (p.Gly1178_Arg1180del) c.3249_3257del (p.Gly1084_Arg1086del) c.3393_3401del (p.Gly1132_Arg1134del) c.3390_3398del (p.Gly1131_Arg1133del) c.3252_3260del (p.Gly1085_Arg1087del) c.2925_2933del (p.Gly976_Arg978del) c.2922_2930del (p.Gly975_Arg977del) c.3021_3029del (p.Gly1008_Arg1010del) c.*2949_*2957del (n.*2949_*2957del) c.2106+182590_2106+182598del (n.2106+182590_2106+182598del) n.12_20del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.184327290G>A | CA355414346 | EIF2B5,EIF4G1 | c.3503G>A (p.Gly1168Glu) c.3437G>A (p.Gly1146Glu) c.2850G>A (n.2850G>A) c.2908G>A (p.Gly970Arg) c.3506G>A (p.Gly1169Glu) c.3011G>A (p.Gly1004Glu) c.3524G>A (p.Gly1175Glu) c.3242G>A (p.Gly1081Glu) c.3386G>A (p.Gly1129Glu) c.3383G>A (p.Gly1128Glu) c.3245G>A (p.Gly1082Glu) c.2918G>A (p.Gly973Glu) c.2915G>A (p.Gly972Glu) c.3014G>A (p.Gly1005Glu) c.*2942G>A (n.*2942G>A) c.2106+182583G>A (n.2106+182583G>A) c.664G>A n.5G>A | |
3 | g.184327290G>C | CA355414349 | EIF2B5,EIF4G1 | c.3503G>C (p.Gly1168Ala) c.3437G>C (p.Gly1146Ala) c.2850G>C (n.2850G>C) c.2908G>C (p.Gly970Arg) c.3506G>C (p.Gly1169Ala) c.3011G>C (p.Gly1004Ala) c.3524G>C (p.Gly1175Ala) c.3242G>C (p.Gly1081Ala) c.3386G>C (p.Gly1129Ala) c.3383G>C (p.Gly1128Ala) c.3245G>C (p.Gly1082Ala) c.2918G>C (p.Gly973Ala) c.2915G>C (p.Gly972Ala) c.3014G>C (p.Gly1005Ala) c.*2942G>C (n.*2942G>C) c.2106+182583G>C (n.2106+182583G>C) c.664G>C n.5G>C | |
3 | g.184327290G>T | CA355414352 | EIF2B5,EIF4G1 | c.3503G>T (p.Gly1168Val) c.3437G>T (p.Gly1146Val) c.2850G>T (n.2850G>T) c.2908G>T (p.Gly970Trp) c.3506G>T (p.Gly1169Val) c.3011G>T (p.Gly1004Val) c.3524G>T (p.Gly1175Val) c.3242G>T (p.Gly1081Val) c.3386G>T (p.Gly1129Val) c.3383G>T (p.Gly1128Val) c.3245G>T (p.Gly1082Val) c.2918G>T (p.Gly973Val) c.2915G>T (p.Gly972Val) c.3014G>T (p.Gly1005Val) c.*2942G>T (n.*2942G>T) c.2106+182583G>T (n.2106+182583G>T) c.664G>T n.5G>T | |
3 | g.184327291G>A | CA355414361 | EIF2B5,EIF4G1 | c.3504G>A (p.Gly1168=) c.3438G>A (p.Gly1146=) c.2851G>A (n.2851G>A) c.2909G>A (p.Gly970Glu) c.3507G>A (p.Gly1169=) c.3012G>A (p.Gly1004=) c.3525G>A (p.Gly1175=) c.3243G>A (p.Gly1081=) c.3387G>A (p.Gly1129=) c.3384G>A (p.Gly1128=) c.3246G>A (p.Gly1082=) c.2919G>A (p.Gly973=) c.2916G>A (p.Gly972=) c.3015G>A (p.Gly1005=) c.*2943G>A (n.*2943G>A) c.2106+182584G>A (n.2106+182584G>A) c.665G>A n.6G>A | |
3 | g.184327291G>C | CA355414365 | EIF2B5,EIF4G1 | c.3504G>C (p.Gly1168=) c.3438G>C (p.Gly1146=) c.2851G>C (n.2851G>C) c.2909G>C (p.Gly970Ala) c.3507G>C (p.Gly1169=) c.3012G>C (p.Gly1004=) c.3525G>C (p.Gly1175=) c.3243G>C (p.Gly1081=) c.3387G>C (p.Gly1129=) c.3384G>C (p.Gly1128=) c.3246G>C (p.Gly1082=) c.2919G>C (p.Gly973=) c.2916G>C (p.Gly972=) c.3015G>C (p.Gly1005=) c.*2943G>C (n.*2943G>C) c.2106+182584G>C (n.2106+182584G>C) c.665G>C n.6G>C | |
3 | g.184327291G>T | CA355414358 | EIF2B5,EIF4G1 | c.3504G>T (p.Gly1168=) c.3438G>T (p.Gly1146=) c.2851G>T (n.2851G>T) c.2909G>T (p.Gly970Val) c.3507G>T (p.Gly1169=) c.3012G>T (p.Gly1004=) c.3525G>T (p.Gly1175=) c.3243G>T (p.Gly1081=) c.3387G>T (p.Gly1129=) c.3384G>T (p.Gly1128=) c.3246G>T (p.Gly1082=) c.2919G>T (p.Gly973=) c.2916G>T (p.Gly972=) c.3015G>T (p.Gly1005=) c.*2943G>T (n.*2943G>T) c.2106+182584G>T (n.2106+182584G>T) c.665G>T n.6G>T | |
3 | g.184327292G>A | CA355414391 | EIF2B5,EIF4G1 | c.3505G>A (p.Asp1169Asn) c.3439G>A (p.Asp1147Asn) c.2852G>A (n.2852G>A) c.2910G>A (p.Gly970=) c.3508G>A (p.Asp1170Asn) c.3013G>A (p.Asp1005Asn) c.3526G>A (p.Asp1176Asn) c.3244G>A (p.Asp1082Asn) c.3388G>A (p.Asp1130Asn) c.3385G>A (p.Asp1129Asn) c.3247G>A (p.Asp1083Asn) c.2920G>A (p.Asp974Asn) c.2917G>A (p.Asp973Asn) c.3016G>A (p.Asp1006Asn) c.*2944G>A (n.*2944G>A) c.2106+182585G>A (n.2106+182585G>A) c.666G>A n.7G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.184327292G>C | CA355414372 | EIF2B5,EIF4G1 | c.3505G>C (p.Asp1169His) c.3439G>C (p.Asp1147His) c.2852G>C (n.2852G>C) c.2910G>C (p.Gly970=) c.3508G>C (p.Asp1170His) c.3013G>C (p.Asp1005His) c.3526G>C (p.Asp1176His) c.3244G>C (p.Asp1082His) c.3388G>C (p.Asp1130His) c.3385G>C (p.Asp1129His) c.3247G>C (p.Asp1083His) c.2920G>C (p.Asp974His) c.2917G>C (p.Asp973His) c.3016G>C (p.Asp1006His) c.*2944G>C (n.*2944G>C) c.2106+182585G>C (n.2106+182585G>C) c.666G>C n.7G>C | |
3 | g.184327292G= | CA1425958232 | EIF2B5,EIF4G1 | c.3505G= (p.Asp1169=) c.3439G= (p.Asp1147=) c.2852G= (n.2852G=) c.2910G= (p.Gly970=) c.3508G= (p.Asp1170=) c.3013G= (p.Asp1005=) c.3526G= (p.Asp1176=) c.3244G= (p.Asp1082=) c.3388G= (p.Asp1130=) c.3385G= (p.Asp1129=) c.3247G= (p.Asp1083=) c.2920G= (p.Asp974=) c.2917G= (p.Asp973=) c.3016G= (p.Asp1006=) c.*2944G= (n.*2944G=) c.2106+182585G= (n.2106+182585G=) c.666G= n.7G= | |
3 | g.184327292G>T | CA355414393 | EIF2B5,EIF4G1 | c.3505G>T (p.Asp1169Tyr) c.3439G>T (p.Asp1147Tyr) c.2852G>T (n.2852G>T) c.2910G>T (p.Gly970=) c.3508G>T (p.Asp1170Tyr) c.3013G>T (p.Asp1005Tyr) c.3526G>T (p.Asp1176Tyr) c.3244G>T (p.Asp1082Tyr) c.3388G>T (p.Asp1130Tyr) c.3385G>T (p.Asp1129Tyr) c.3247G>T (p.Asp1083Tyr) c.2920G>T (p.Asp974Tyr) c.2917G>T (p.Asp973Tyr) c.3016G>T (p.Asp1006Tyr) c.*2944G>T (n.*2944G>T) c.2106+182585G>T (n.2106+182585G>T) c.666G>T n.7G>T | |
3 | g.184327293A>C | CA355414396 | EIF2B5,EIF4G1 | c.3506A>C (p.Asp1169Ala) c.3440A>C (p.Asp1147Ala) c.2853A>C (n.2853A>C) c.2911A>C (p.Thr971Pro) c.3509A>C (p.Asp1170Ala) c.3014A>C (p.Asp1005Ala) c.3527A>C (p.Asp1176Ala) c.3245A>C (p.Asp1082Ala) c.3389A>C (p.Asp1130Ala) c.3386A>C (p.Asp1129Ala) c.3248A>C (p.Asp1083Ala) c.2921A>C (p.Asp974Ala) c.2918A>C (p.Asp973Ala) c.3017A>C (p.Asp1006Ala) c.*2945A>C (n.*2945A>C) c.2106+182586A>C (n.2106+182586A>C) c.667A>C n.8A>C | |
3 | g.184327293A>G | CA355414401 | EIF2B5,EIF4G1 | c.3506A>G (p.Asp1169Gly) c.3440A>G (p.Asp1147Gly) c.2853A>G (n.2853A>G) c.2911A>G (p.Thr971Ala) c.3509A>G (p.Asp1170Gly) c.3014A>G (p.Asp1005Gly) c.3527A>G (p.Asp1176Gly) c.3245A>G (p.Asp1082Gly) c.3389A>G (p.Asp1130Gly) c.3386A>G (p.Asp1129Gly) c.3248A>G (p.Asp1083Gly) c.2921A>G (p.Asp974Gly) c.2918A>G (p.Asp973Gly) c.3017A>G (p.Asp1006Gly) c.*2945A>G (n.*2945A>G) c.2106+182586A>G (n.2106+182586A>G) c.667A>G n.8A>G | |
3 | g.184327293A>T | CA355414405 | EIF2B5,EIF4G1 | c.3506A>T (p.Asp1169Val) c.3440A>T (p.Asp1147Val) c.2853A>T (n.2853A>T) c.2911A>T (p.Thr971Ser) c.3509A>T (p.Asp1170Val) c.3014A>T (p.Asp1005Val) c.3527A>T (p.Asp1176Val) c.3245A>T (p.Asp1082Val) c.3389A>T (p.Asp1130Val) c.3386A>T (p.Asp1129Val) c.3248A>T (p.Asp1083Val) c.2921A>T (p.Asp974Val) c.2918A>T (p.Asp973Val) c.3017A>T (p.Asp1006Val) c.*2945A>T (n.*2945A>T) c.2106+182586A>T (n.2106+182586A>T) c.667A>T n.8A>T | |
3 | g.184327294C>A | CA355414408 | EIF2B5,EIF4G1 | c.3507C>A (p.Asp1169Glu) c.3441C>A (p.Asp1147Glu) c.2854C>A (n.2854C>A) c.2912C>A (p.Thr971Asn) c.3510C>A (p.Asp1170Glu) c.3015C>A (p.Asp1005Glu) c.3528C>A (p.Asp1176Glu) c.3246C>A (p.Asp1082Glu) c.3390C>A (p.Asp1130Glu) c.3387C>A (p.Asp1129Glu) c.3249C>A (p.Asp1083Glu) c.2922C>A (p.Asp974Glu) c.2919C>A (p.Asp973Glu) c.3018C>A (p.Asp1006Glu) c.*2946C>A (n.*2946C>A) c.2106+182587C>A (n.2106+182587C>A) c.668C>A n.9C>A | |
3 | g.184327294C>G | CA355414411 | EIF2B5,EIF4G1 | c.3507C>G (p.Asp1169Glu) c.3441C>G (p.Asp1147Glu) c.2854C>G (n.2854C>G) c.2912C>G (p.Thr971Ser) c.3510C>G (p.Asp1170Glu) c.3015C>G (p.Asp1005Glu) c.3528C>G (p.Asp1176Glu) c.3246C>G (p.Asp1082Glu) c.3390C>G (p.Asp1130Glu) c.3387C>G (p.Asp1129Glu) c.3249C>G (p.Asp1083Glu) c.2922C>G (p.Asp974Glu) c.2919C>G (p.Asp973Glu) c.3018C>G (p.Asp1006Glu) c.*2946C>G (n.*2946C>G) c.2106+182587C>G (n.2106+182587C>G) c.668C>G n.9C>G | |
3 | g.184327294C>T | CA355414415 | EIF2B5,EIF4G1 | c.3507C>T (p.Asp1169=) c.3441C>T (p.Asp1147=) c.2854C>T (n.2854C>T) c.2912C>T (p.Thr971Ile) c.3510C>T (p.Asp1170=) c.3015C>T (p.Asp1005=) c.3528C>T (p.Asp1176=) c.3246C>T (p.Asp1082=) c.3390C>T (p.Asp1130=) c.3387C>T (p.Asp1129=) c.3249C>T (p.Asp1083=) c.2922C>T (p.Asp974=) c.2919C>T (p.Asp973=) c.3018C>T (p.Asp1006=) c.*2946C>T (n.*2946C>T) c.2106+182587C>T (n.2106+182587C>T) c.668C>T n.9C>T | |
3 | g.184327295C>A | CA355414427 | EIF2B5,EIF4G1 | c.3508C>A (p.Arg1170Ser) c.3442C>A (p.Arg1148Ser) c.2855C>A (n.2855C>A) c.2913C>A (p.Thr971=) c.3511C>A (p.Arg1171Ser) c.3016C>A (p.Arg1006Ser) c.3529C>A (p.Arg1177Ser) c.3247C>A (p.Arg1083Ser) c.3391C>A (p.Arg1131Ser) c.3388C>A (p.Arg1130Ser) c.3250C>A (p.Arg1084Ser) c.2923C>A (p.Arg975Ser) c.2920C>A (p.Arg974Ser) c.3019C>A (p.Arg1007Ser) c.*2947C>A (n.*2947C>A) c.2106+182588C>A (n.2106+182588C>A) c.669C>A n.10C>A | dbSNP gnomAD v3 gnomAD v4 |
3 | g.184327295C= | CA1425958237 | EIF2B5,EIF4G1 | c.3508C= (p.Arg1170=) c.3442C= (p.Arg1148=) c.2855C= (n.2855C=) c.2913C= (p.Thr971=) c.3511C= (p.Arg1171=) c.3016C= (p.Arg1006=) c.3529C= (p.Arg1177=) c.3247C= (p.Arg1083=) c.3391C= (p.Arg1131=) c.3388C= (p.Arg1130=) c.3250C= (p.Arg1084=) c.2923C= (p.Arg975=) c.2920C= (p.Arg974=) c.3019C= (p.Arg1007=) c.*2947C= (n.*2947C=) c.2106+182588C= (n.2106+182588C=) c.669C= n.10C= | |
3 | g.184327295C>G | CA355414422 | EIF2B5,EIF4G1 | c.3508C>G (p.Arg1170Gly) c.3442C>G (p.Arg1148Gly) c.2855C>G (n.2855C>G) c.2913C>G (p.Thr971=) c.3511C>G (p.Arg1171Gly) c.3016C>G (p.Arg1006Gly) c.3529C>G (p.Arg1177Gly) c.3247C>G (p.Arg1083Gly) c.3391C>G (p.Arg1131Gly) c.3388C>G (p.Arg1130Gly) c.3250C>G (p.Arg1084Gly) c.2923C>G (p.Arg975Gly) c.2920C>G (p.Arg974Gly) c.3019C>G (p.Arg1007Gly) c.*2947C>G (n.*2947C>G) c.2106+182588C>G (n.2106+182588C>G) c.669C>G n.10C>G | |
3 | g.184327295C>T | CA2732829 | EIF2B5,EIF4G1 | c.3508C>T (p.Arg1170Cys) c.3442C>T (p.Arg1148Cys) c.2855C>T (n.2855C>T) c.2913C>T (p.Thr971=) c.3511C>T (p.Arg1171Cys) c.3016C>T (p.Arg1006Cys) c.3529C>T (p.Arg1177Cys) c.3247C>T (p.Arg1083Cys) c.3391C>T (p.Arg1131Cys) c.3388C>T (p.Arg1130Cys) c.3250C>T (p.Arg1084Cys) c.2923C>T (p.Arg975Cys) c.2920C>T (p.Arg974Cys) c.3019C>T (p.Arg1007Cys) c.*2947C>T (n.*2947C>T) c.2106+182588C>T (n.2106+182588C>T) c.669C>T n.10C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.184327296G>A | CA2732830 | EIF2B5,EIF4G1 | c.3509G>A (p.Arg1170His) c.3443G>A (p.Arg1148His) c.2856G>A (n.2856G>A) c.2914G>A (p.Val972Met) c.3512G>A (p.Arg1171His) c.3017G>A (p.Arg1006His) c.3530G>A (p.Arg1177His) c.3248G>A (p.Arg1083His) c.3392G>A (p.Arg1131His) c.3389G>A (p.Arg1130His) c.3251G>A (p.Arg1084His) c.2924G>A (p.Arg975His) c.2921G>A (p.Arg974His) c.3020G>A (p.Arg1007His) c.*2948G>A (n.*2948G>A) c.2106+182589G>A (n.2106+182589G>A) c.670G>A n.11G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
3 | g.184327296G>C | CA355414436 | EIF2B5,EIF4G1 | c.3509G>C (p.Arg1170Pro) c.3443G>C (p.Arg1148Pro) c.2856G>C (n.2856G>C) c.2914G>C (p.Val972Leu) c.3512G>C (p.Arg1171Pro) c.3017G>C (p.Arg1006Pro) c.3530G>C (p.Arg1177Pro) c.3248G>C (p.Arg1083Pro) c.3392G>C (p.Arg1131Pro) c.3389G>C (p.Arg1130Pro) c.3251G>C (p.Arg1084Pro) c.2924G>C (p.Arg975Pro) c.2921G>C (p.Arg974Pro) c.3020G>C (p.Arg1007Pro) c.*2948G>C (n.*2948G>C) c.2106+182589G>C (n.2106+182589G>C) c.670G>C n.11G>C | |
3 | g.184327296G= | CA1425958240 | EIF2B5,EIF4G1 | c.3509G= (p.Arg1170=) c.3443G= (p.Arg1148=) c.2856G= (n.2856G=) c.2914G= (p.Val972=) c.3512G= (p.Arg1171=) c.3017G= (p.Arg1006=) c.3530G= (p.Arg1177=) c.3248G= (p.Arg1083=) c.3392G= (p.Arg1131=) c.3389G= (p.Arg1130=) c.3251G= (p.Arg1084=) c.2924G= (p.Arg975=) c.2921G= (p.Arg974=) c.3020G= (p.Arg1007=) c.*2948G= (n.*2948G=) c.2106+182589G= (n.2106+182589G=) c.670G= n.11G= | |
3 | g.184327296G>T | CA2732831 | EIF2B5,EIF4G1 | c.3509G>T (p.Arg1170Leu) c.3443G>T (p.Arg1148Leu) c.2856G>T (n.2856G>T) c.2914G>T (p.Val972Leu) c.3512G>T (p.Arg1171Leu) c.3017G>T (p.Arg1006Leu) c.3530G>T (p.Arg1177Leu) c.3248G>T (p.Arg1083Leu) c.3392G>T (p.Arg1131Leu) c.3389G>T (p.Arg1130Leu) c.3251G>T (p.Arg1084Leu) c.2924G>T (p.Arg975Leu) c.2921G>T (p.Arg974Leu) c.3020G>T (p.Arg1007Leu) c.*2948G>T (n.*2948G>T) c.2106+182589G>T (n.2106+182589G>T) c.670G>T n.11G>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.184327297T>A | CA355414446 | EIF2B5,EIF4G1 | c.3510T>A (p.Arg1170=) c.3444T>A (p.Arg1148=) c.2857T>A (n.2857T>A) c.2915T>A (p.Val972Glu) c.3513T>A (p.Arg1171=) c.3018T>A (p.Arg1006=) c.3531T>A (p.Arg1177=) c.3249T>A (p.Arg1083=) c.3393T>A (p.Arg1131=) c.3390T>A (p.Arg1130=) c.3252T>A (p.Arg1084=) c.2925T>A (p.Arg975=) c.2922T>A (p.Arg974=) c.3021T>A (p.Arg1007=) c.*2949T>A (n.*2949T>A) c.2106+182590T>A (n.2106+182590T>A) c.671T>A n.12T>A | |
3 | g.184327297T>C | CA355414448 | EIF2B5,EIF4G1 | c.3510T>C (p.Arg1170=) c.3444T>C (p.Arg1148=) c.2857T>C (n.2857T>C) c.2915T>C (p.Val972Ala) c.3513T>C (p.Arg1171=) c.3018T>C (p.Arg1006=) c.3531T>C (p.Arg1177=) c.3249T>C (p.Arg1083=) c.3393T>C (p.Arg1131=) c.3390T>C (p.Arg1130=) c.3252T>C (p.Arg1084=) c.2925T>C (p.Arg975=) c.2922T>C (p.Arg974=) c.3021T>C (p.Arg1007=) c.*2949T>C (n.*2949T>C) c.2106+182590T>C (n.2106+182590T>C) c.671T>C n.12T>C | |
3 | g.184327297T>G | CA355414453 | EIF2B5,EIF4G1 | c.3510T>G (p.Arg1170=) c.3444T>G (p.Arg1148=) c.2857T>G (n.2857T>G) c.2915T>G (p.Val972Gly) c.3513T>G (p.Arg1171=) c.3018T>G (p.Arg1006=) c.3531T>G (p.Arg1177=) c.3249T>G (p.Arg1083=) c.3393T>G (p.Arg1131=) c.3390T>G (p.Arg1130=) c.3252T>G (p.Arg1084=) c.2925T>G (p.Arg975=) c.2922T>G (p.Arg974=) c.3021T>G (p.Arg1007=) c.*2949T>G (n.*2949T>G) c.2106+182590T>G (n.2106+182590T>G) c.671T>G n.12T>G | |
3 | g.184327298G>A | CA355414457 | EIF2B5,EIF4G1 | c.3511G>A (p.Gly1171Arg) c.3445G>A (p.Gly1149Arg) c.2858G>A (n.2858G>A) c.2916G>A (p.Val972=) c.3514G>A (p.Gly1172Arg) c.3019G>A (p.Gly1007Arg) c.3532G>A (p.Gly1178Arg) c.3250G>A (p.Gly1084Arg) c.3394G>A (p.Gly1132Arg) c.3391G>A (p.Gly1131Arg) c.3253G>A (p.Gly1085Arg) c.2926G>A (p.Gly976Arg) c.2923G>A (p.Gly975Arg) c.3022G>A (p.Gly1008Arg) c.*2950G>A (n.*2950G>A) c.2106+182591G>A (n.2106+182591G>A) c.672G>A n.13G>A | |
3 | g.184327298G>C | CA355414465 | EIF2B5,EIF4G1 | c.3511G>C (p.Gly1171Arg) c.3445G>C (p.Gly1149Arg) c.2858G>C (n.2858G>C) c.2916G>C (p.Val972=) c.3514G>C (p.Gly1172Arg) c.3019G>C (p.Gly1007Arg) c.3532G>C (p.Gly1178Arg) c.3250G>C (p.Gly1084Arg) c.3394G>C (p.Gly1132Arg) c.3391G>C (p.Gly1131Arg) c.3253G>C (p.Gly1085Arg) c.2926G>C (p.Gly976Arg) c.2923G>C (p.Gly975Arg) c.3022G>C (p.Gly1008Arg) c.*2950G>C (n.*2950G>C) c.2106+182591G>C (n.2106+182591G>C) c.672G>C n.13G>C | |
3 | g.184327298G>T | CA355414462 | EIF2B5,EIF4G1 | c.3511G>T (p.Gly1171Trp) c.3445G>T (p.Gly1149Trp) c.2858G>T (n.2858G>T) c.2916G>T (p.Val972=) c.3514G>T (p.Gly1172Trp) c.3019G>T (p.Gly1007Trp) c.3532G>T (p.Gly1178Trp) c.3250G>T (p.Gly1084Trp) c.3394G>T (p.Gly1132Trp) c.3391G>T (p.Gly1131Trp) c.3253G>T (p.Gly1085Trp) c.2926G>T (p.Gly976Trp) c.2923G>T (p.Gly975Trp) c.3022G>T (p.Gly1008Trp) c.*2950G>T (n.*2950G>T) c.2106+182591G>T (n.2106+182591G>T) c.672G>T n.13G>T | |
3 | g.184327299G>A | CA355414469 | EIF2B5,EIF4G1 | c.3512G>A (p.Gly1171Glu) c.3446G>A (p.Gly1149Glu) c.2859G>A (n.2859G>A) c.2917G>A (p.Gly973Arg) c.3515G>A (p.Gly1172Glu) c.3020G>A (p.Gly1007Glu) c.3533G>A (p.Gly1178Glu) c.3251G>A (p.Gly1084Glu) c.3395G>A (p.Gly1132Glu) c.3392G>A (p.Gly1131Glu) c.3254G>A (p.Gly1085Glu) c.2927G>A (p.Gly976Glu) c.2924G>A (p.Gly975Glu) c.3023G>A (p.Gly1008Glu) c.*2951G>A (n.*2951G>A) c.2106+182592G>A (n.2106+182592G>A) c.673G>A n.14G>A | |
3 | g.184327299G>C | CA355414472 | EIF2B5,EIF4G1 | c.3512G>C (p.Gly1171Ala) c.3446G>C (p.Gly1149Ala) c.2859G>C (n.2859G>C) c.2917G>C (p.Gly973Arg) c.3515G>C (p.Gly1172Ala) c.3020G>C (p.Gly1007Ala) c.3533G>C (p.Gly1178Ala) c.3251G>C (p.Gly1084Ala) c.3395G>C (p.Gly1132Ala) c.3392G>C (p.Gly1131Ala) c.3254G>C (p.Gly1085Ala) c.2927G>C (p.Gly976Ala) c.2924G>C (p.Gly975Ala) c.3023G>C (p.Gly1008Ala) c.*2951G>C (n.*2951G>C) c.2106+182592G>C (n.2106+182592G>C) c.673G>C n.14G>C | |
3 | g.184327299G>T | CA355414476 | EIF2B5,EIF4G1 | c.3512G>T (p.Gly1171Val) c.3446G>T (p.Gly1149Val) c.2859G>T (n.2859G>T) c.2917G>T (p.Gly973Trp) c.3515G>T (p.Gly1172Val) c.3020G>T (p.Gly1007Val) c.3533G>T (p.Gly1178Val) c.3251G>T (p.Gly1084Val) c.3395G>T (p.Gly1132Val) c.3392G>T (p.Gly1131Val) c.3254G>T (p.Gly1085Val) c.2927G>T (p.Gly976Val) c.2924G>T (p.Gly975Val) c.3023G>T (p.Gly1008Val) c.*2951G>T (n.*2951G>T) c.2106+182592G>T (n.2106+182592G>T) c.673G>T n.14G>T | |
3 | g.184327300G>A | CA355414485 | EIF2B5,EIF4G1 | c.3513G>A (p.Gly1171=) c.3447G>A (p.Gly1149=) c.2860G>A (n.2860G>A) c.2918G>A (p.Gly973Glu) c.3516G>A (p.Gly1172=) c.3021G>A (p.Gly1007=) c.3534G>A (p.Gly1178=) c.3252G>A (p.Gly1084=) c.3396G>A (p.Gly1132=) c.3393G>A (p.Gly1131=) c.3255G>A (p.Gly1085=) c.2928G>A (p.Gly976=) c.2925G>A (p.Gly975=) c.3024G>A (p.Gly1008=) c.*2952G>A (n.*2952G>A) c.2106+182593G>A (n.2106+182593G>A) c.674G>A n.15G>A | |
3 | g.184327300G>C | CA355414489 | EIF2B5,EIF4G1 | c.3513G>C (p.Gly1171=) c.3447G>C (p.Gly1149=) c.2860G>C (n.2860G>C) c.2918G>C (p.Gly973Ala) c.3516G>C (p.Gly1172=) c.3021G>C (p.Gly1007=) c.3534G>C (p.Gly1178=) c.3252G>C (p.Gly1084=) c.3396G>C (p.Gly1132=) c.3393G>C (p.Gly1131=) c.3255G>C (p.Gly1085=) c.2928G>C (p.Gly976=) c.2925G>C (p.Gly975=) c.3024G>C (p.Gly1008=) c.*2952G>C (n.*2952G>C) c.2106+182593G>C (n.2106+182593G>C) c.674G>C n.15G>C | dbSNP gnomAD v2 gnomAD v4 |
3 | g.184327300G= | CA1425958243 | EIF2B5,EIF4G1 | c.3513G= (p.Gly1171=) c.3447G= (p.Gly1149=) c.2860G= (n.2860G=) c.2918G= (p.Gly973=) c.3516G= (p.Gly1172=) c.3021G= (p.Gly1007=) c.3534G= (p.Gly1178=) c.3252G= (p.Gly1084=) c.3396G= (p.Gly1132=) c.3393G= (p.Gly1131=) c.3255G= (p.Gly1085=) c.2928G= (p.Gly976=) c.2925G= (p.Gly975=) c.3024G= (p.Gly1008=) c.*2952G= (n.*2952G=) c.2106+182593G= (n.2106+182593G=) c.674G= n.15G= | |
3 | g.184327300G>T | CA355414495 | EIF2B5,EIF4G1 | c.3513G>T (p.Gly1171=) c.3447G>T (p.Gly1149=) c.2860G>T (n.2860G>T) c.2918G>T (p.Gly973Val) c.3516G>T (p.Gly1172=) c.3021G>T (p.Gly1007=) c.3534G>T (p.Gly1178=) c.3252G>T (p.Gly1084=) c.3396G>T (p.Gly1132=) c.3393G>T (p.Gly1131=) c.3255G>T (p.Gly1085=) c.2928G>T (p.Gly976=) c.2925G>T (p.Gly975=) c.3024G>T (p.Gly1008=) c.*2952G>T (n.*2952G>T) c.2106+182593G>T (n.2106+182593G>T) c.674G>T n.15G>T | |
3 | g.184327301G>A | CA355414500 | EIF2B5,EIF4G1 | c.3514G>A (p.Asp1172Asn) c.3448G>A (p.Asp1150Asn) c.2861G>A (n.2861G>A) c.2919G>A (p.Gly973=) c.3517G>A (p.Asp1173Asn) c.3022G>A (p.Asp1008Asn) c.3535G>A (p.Asp1179Asn) c.3253G>A (p.Asp1085Asn) c.3397G>A (p.Asp1133Asn) c.3394G>A (p.Asp1132Asn) c.3256G>A (p.Asp1086Asn) c.2929G>A (p.Asp977Asn) c.2926G>A (p.Asp976Asn) c.3025G>A (p.Asp1009Asn) c.*2953G>A (n.*2953G>A) c.2106+182594G>A (n.2106+182594G>A) c.675G>A n.16G>A | |
3 | g.184327301G>C | CA355414504 | EIF2B5,EIF4G1 | c.3514G>C (p.Asp1172His) c.3448G>C (p.Asp1150His) c.2861G>C (n.2861G>C) c.2919G>C (p.Gly973=) c.3517G>C (p.Asp1173His) c.3022G>C (p.Asp1008His) c.3535G>C (p.Asp1179His) c.3253G>C (p.Asp1085His) c.3397G>C (p.Asp1133His) c.3394G>C (p.Asp1132His) c.3256G>C (p.Asp1086His) c.2929G>C (p.Asp977His) c.2926G>C (p.Asp976His) c.3025G>C (p.Asp1009His) c.*2953G>C (n.*2953G>C) c.2106+182594G>C (n.2106+182594G>C) c.675G>C n.16G>C | |
3 | g.184327301G>T | CA355414506 | EIF2B5,EIF4G1 | c.3514G>T (p.Asp1172Tyr) c.3448G>T (p.Asp1150Tyr) c.2861G>T (n.2861G>T) c.2919G>T (p.Gly973=) c.3517G>T (p.Asp1173Tyr) c.3022G>T (p.Asp1008Tyr) c.3535G>T (p.Asp1179Tyr) c.3253G>T (p.Asp1085Tyr) c.3397G>T (p.Asp1133Tyr) c.3394G>T (p.Asp1132Tyr) c.3256G>T (p.Asp1086Tyr) c.2929G>T (p.Asp977Tyr) c.2926G>T (p.Asp976Tyr) c.3025G>T (p.Asp1009Tyr) c.*2953G>T (n.*2953G>T) c.2106+182594G>T (n.2106+182594G>T) c.675G>T n.16G>T | gnomAD v4 |
3 | g.184327302A>C | CA355414509 | EIF2B5,EIF4G1 | c.3515A>C (p.Asp1172Ala) c.3449A>C (p.Asp1150Ala) c.2862A>C (n.2862A>C) c.2920A>C (p.Thr974Pro) c.3518A>C (p.Asp1173Ala) c.3023A>C (p.Asp1008Ala) c.3536A>C (p.Asp1179Ala) c.3254A>C (p.Asp1085Ala) c.3398A>C (p.Asp1133Ala) c.3395A>C (p.Asp1132Ala) c.3257A>C (p.Asp1086Ala) c.2930A>C (p.Asp977Ala) c.2927A>C (p.Asp976Ala) c.3026A>C (p.Asp1009Ala) c.*2954A>C (n.*2954A>C) c.2106+182595A>C (n.2106+182595A>C) c.676A>C n.17A>C | |
3 | g.184327302A>G | CA355414510 | EIF2B5,EIF4G1 | c.3515A>G (p.Asp1172Gly) c.3449A>G (p.Asp1150Gly) c.2862A>G (n.2862A>G) c.2920A>G (p.Thr974Ala) c.3518A>G (p.Asp1173Gly) c.3023A>G (p.Asp1008Gly) c.3536A>G (p.Asp1179Gly) c.3254A>G (p.Asp1085Gly) c.3398A>G (p.Asp1133Gly) c.3395A>G (p.Asp1132Gly) c.3257A>G (p.Asp1086Gly) c.2930A>G (p.Asp977Gly) c.2927A>G (p.Asp976Gly) c.3026A>G (p.Asp1009Gly) c.*2954A>G (n.*2954A>G) c.2106+182595A>G (n.2106+182595A>G) c.676A>G n.17A>G | |
3 | g.184327302A>T | CA355414514 | EIF2B5,EIF4G1 | c.3515A>T (p.Asp1172Val) c.3449A>T (p.Asp1150Val) c.2862A>T (n.2862A>T) c.2920A>T (p.Thr974Ser) c.3518A>T (p.Asp1173Val) c.3023A>T (p.Asp1008Val) c.3536A>T (p.Asp1179Val) c.3254A>T (p.Asp1085Val) c.3398A>T (p.Asp1133Val) c.3395A>T (p.Asp1132Val) c.3257A>T (p.Asp1086Val) c.2930A>T (p.Asp977Val) c.2927A>T (p.Asp976Val) c.3026A>T (p.Asp1009Val) c.*2954A>T (n.*2954A>T) c.2106+182595A>T (n.2106+182595A>T) c.676A>T n.17A>T | |
3 | g.184327303C>A | CA355414520 | EIF2B5,EIF4G1 | c.3516C>A (p.Asp1172Glu) c.3450C>A (p.Asp1150Glu) c.2863C>A (n.2863C>A) c.2921C>A (p.Thr974Asn) c.3519C>A (p.Asp1173Glu) c.3024C>A (p.Asp1008Glu) c.3537C>A (p.Asp1179Glu) c.3255C>A (p.Asp1085Glu) c.3399C>A (p.Asp1133Glu) c.3396C>A (p.Asp1132Glu) c.3258C>A (p.Asp1086Glu) c.2931C>A (p.Asp977Glu) c.2928C>A (p.Asp976Glu) c.3027C>A (p.Asp1009Glu) c.*2955C>A (n.*2955C>A) c.2106+182596C>A (n.2106+182596C>A) c.677C>A n.18C>A | |
3 | g.184327303C>G | CA355414547 | EIF2B5,EIF4G1 | c.3516C>G (p.Asp1172Glu) c.3450C>G (p.Asp1150Glu) c.2863C>G (n.2863C>G) c.2921C>G (p.Thr974Ser) c.3519C>G (p.Asp1173Glu) c.3024C>G (p.Asp1008Glu) c.3537C>G (p.Asp1179Glu) c.3255C>G (p.Asp1085Glu) c.3399C>G (p.Asp1133Glu) c.3396C>G (p.Asp1132Glu) c.3258C>G (p.Asp1086Glu) c.2931C>G (p.Asp977Glu) c.2928C>G (p.Asp976Glu) c.3027C>G (p.Asp1009Glu) c.*2955C>G (n.*2955C>G) c.2106+182596C>G (n.2106+182596C>G) c.677C>G n.18C>G | |
3 | g.184327303C>T | CA355414526 | EIF2B5,EIF4G1 | c.3516C>T (p.Asp1172=) c.3450C>T (p.Asp1150=) c.2863C>T (n.2863C>T) c.2921C>T (p.Thr974Ile) c.3519C>T (p.Asp1173=) c.3024C>T (p.Asp1008=) c.3537C>T (p.Asp1179=) c.3255C>T (p.Asp1085=) c.3399C>T (p.Asp1133=) c.3396C>T (p.Asp1132=) c.3258C>T (p.Asp1086=) c.2931C>T (p.Asp977=) c.2928C>T (p.Asp976=) c.3027C>T (p.Asp1009=) c.*2955C>T (n.*2955C>T) c.2106+182596C>T (n.2106+182596C>T) c.677C>T n.18C>T | |
3 | g.184327304C>A | CA437330518 | EIF2B5,EIF4G1 | c.3517C>A (p.Arg1173=) c.3451C>A (p.Arg1151=) c.2864C>A (n.2864C>A) c.2922C>A (p.Thr974=) c.3520C>A (p.Arg1174=) c.3025C>A (p.Arg1009=) c.3538C>A (p.Arg1180=) c.3256C>A (p.Arg1086=) c.3400C>A (p.Arg1134=) c.3397C>A (p.Arg1133=) c.3259C>A (p.Arg1087=) c.2932C>A (p.Arg978=) c.2929C>A (p.Arg977=) c.3028C>A (p.Arg1010=) c.*2956C>A (n.*2956C>A) c.2106+182597C>A (n.2106+182597C>A) n.19C>A | |
3 | g.184327304C= | CA1425958246 | EIF2B5,EIF4G1 | c.3517C= (p.Arg1173=) c.3451C= (p.Arg1151=) c.2864C= (n.2864C=) c.2922C= (p.Thr974=) c.3520C= (p.Arg1174=) c.3025C= (p.Arg1009=) c.3538C= (p.Arg1180=) c.3256C= (p.Arg1086=) c.3400C= (p.Arg1134=) c.3397C= (p.Arg1133=) c.3259C= (p.Arg1087=) c.2932C= (p.Arg978=) c.2929C= (p.Arg977=) c.3028C= (p.Arg1010=) c.*2956C= (n.*2956C=) c.2106+182597C= (n.2106+182597C=) n.19C= | |
3 | g.184327304C>G | CA355414550 | EIF2B5,EIF4G1 | c.3517C>G (p.Arg1173Gly) c.3451C>G (p.Arg1151Gly) c.2864C>G (n.2864C>G) c.2922C>G (p.Thr974=) c.3520C>G (p.Arg1174Gly) c.3025C>G (p.Arg1009Gly) c.3538C>G (p.Arg1180Gly) c.3256C>G (p.Arg1086Gly) c.3400C>G (p.Arg1134Gly) c.3397C>G (p.Arg1133Gly) c.3259C>G (p.Arg1087Gly) c.2932C>G (p.Arg978Gly) c.2929C>G (p.Arg977Gly) c.3028C>G (p.Arg1010Gly) c.*2956C>G (n.*2956C>G) c.2106+182597C>G (n.2106+182597C>G) n.19C>G | |
3 | g.184327304C>T | CA2732832 | EIF2B5,EIF4G1 | c.3517C>T (p.Arg1173Trp) c.3451C>T (p.Arg1151Trp) c.2864C>T (n.2864C>T) c.2922C>T (p.Thr974=) c.3520C>T (p.Arg1174Trp) c.3025C>T (p.Arg1009Trp) c.3538C>T (p.Arg1180Trp) c.3256C>T (p.Arg1086Trp) c.3400C>T (p.Arg1134Trp) c.3397C>T (p.Arg1133Trp) c.3259C>T (p.Arg1087Trp) c.2932C>T (p.Arg978Trp) c.2929C>T (p.Arg977Trp) c.3028C>T (p.Arg1010Trp) c.*2956C>T (n.*2956C>T) c.2106+182597C>T (n.2106+182597C>T) n.19C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.184327305G>A | CA355414559 | EIF2B5,EIF4G1 | c.3518G>A (p.Arg1173Gln) c.3452G>A (p.Arg1151Gln) c.2865G>A (n.2865G>A) c.2923G>A (p.Gly975Ser) c.3521G>A (p.Arg1174Gln) c.3026G>A (p.Arg1009Gln) c.3539G>A (p.Arg1180Gln) c.3257G>A (p.Arg1086Gln) c.3401G>A (p.Arg1134Gln) c.3398G>A (p.Arg1133Gln) c.3260G>A (p.Arg1087Gln) c.2933G>A (p.Arg978Gln) c.2930G>A (p.Arg977Gln) c.3029G>A (p.Arg1010Gln) c.*2957G>A (n.*2957G>A) c.2106+182598G>A (n.2106+182598G>A) n.20G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.184327305G>C | CA355414568 | EIF2B5,EIF4G1 | c.3518G>C (p.Arg1173Pro) c.3452G>C (p.Arg1151Pro) c.2865G>C (n.2865G>C) c.2923G>C (p.Gly975Arg) c.3521G>C (p.Arg1174Pro) c.3026G>C (p.Arg1009Pro) c.3539G>C (p.Arg1180Pro) c.3257G>C (p.Arg1086Pro) c.3401G>C (p.Arg1134Pro) c.3398G>C (p.Arg1133Pro) c.3260G>C (p.Arg1087Pro) c.2933G>C (p.Arg978Pro) c.2930G>C (p.Arg977Pro) c.3029G>C (p.Arg1010Pro) c.*2957G>C (n.*2957G>C) c.2106+182598G>C (n.2106+182598G>C) n.20G>C | |
3 | g.184327305G= | CA1425958249 | EIF2B5,EIF4G1 | c.3518G= (p.Arg1173=) c.3452G= (p.Arg1151=) c.2865G= (n.2865G=) c.2923G= (p.Gly975=) c.3521G= (p.Arg1174=) c.3026G= (p.Arg1009=) c.3539G= (p.Arg1180=) c.3257G= (p.Arg1086=) c.3401G= (p.Arg1134=) c.3398G= (p.Arg1133=) c.3260G= (p.Arg1087=) c.2933G= (p.Arg978=) c.2930G= (p.Arg977=) c.3029G= (p.Arg1010=) c.*2957G= (n.*2957G=) c.2106+182598G= (n.2106+182598G=) n.20G= | |
3 | g.184327305G>T | CA355414570 | EIF2B5,EIF4G1 | c.3518G>T (p.Arg1173Leu) c.3452G>T (p.Arg1151Leu) c.2865G>T (n.2865G>T) c.2923G>T (p.Gly975Cys) c.3521G>T (p.Arg1174Leu) c.3026G>T (p.Arg1009Leu) c.3539G>T (p.Arg1180Leu) c.3257G>T (p.Arg1086Leu) c.3401G>T (p.Arg1134Leu) c.3398G>T (p.Arg1133Leu) c.3260G>T (p.Arg1087Leu) c.2933G>T (p.Arg978Leu) c.2930G>T (p.Arg977Leu) c.3029G>T (p.Arg1010Leu) c.*2957G>T (n.*2957G>T) c.2106+182598G>T (n.2106+182598G>T) n.20G>T | dbSNP gnomAD v3 gnomAD v4 |
3 | g.184327306G>A | CA355414577 | EIF2B5,EIF4G1 | c.3519G>A (p.Arg1173=) c.3453G>A (p.Arg1151=) c.2866G>A (n.2866G>A) c.2924G>A (p.Gly975Asp) c.3522G>A (p.Arg1174=) c.3027G>A (p.Arg1009=) c.3540G>A (p.Arg1180=) c.3258G>A (p.Arg1086=) c.3402G>A (p.Arg1134=) c.3399G>A (p.Arg1133=) c.3261G>A (p.Arg1087=) c.2934G>A (p.Arg978=) c.2931G>A (p.Arg977=) c.3030G>A (p.Arg1010=) c.*2958G>A (n.*2958G>A) c.2106+182599G>A (n.2106+182599G>A) n.21G>A | |
3 | g.184327306G>C | CA355414580 | EIF2B5,EIF4G1 | c.3519G>C (p.Arg1173=) c.3453G>C (p.Arg1151=) c.2866G>C (n.2866G>C) c.2924G>C (p.Gly975Ala) c.3522G>C (p.Arg1174=) c.3027G>C (p.Arg1009=) c.3540G>C (p.Arg1180=) c.3258G>C (p.Arg1086=) c.3402G>C (p.Arg1134=) c.3399G>C (p.Arg1133=) c.3261G>C (p.Arg1087=) c.2934G>C (p.Arg978=) c.2931G>C (p.Arg977=) c.3030G>C (p.Arg1010=) c.*2958G>C (n.*2958G>C) c.2106+182599G>C (n.2106+182599G>C) n.21G>C | dbSNP |
3 | g.184327306G= | CA1425958252 | EIF2B5,EIF4G1 | c.3519G= (p.Arg1173=) c.3453G= (p.Arg1151=) c.2866G= (n.2866G=) c.2924G= (p.Gly975=) c.3522G= (p.Arg1174=) c.3027G= (p.Arg1009=) c.3540G= (p.Arg1180=) c.3258G= (p.Arg1086=) c.3402G= (p.Arg1134=) c.3399G= (p.Arg1133=) c.3261G= (p.Arg1087=) c.2934G= (p.Arg978=) c.2931G= (p.Arg977=) c.3030G= (p.Arg1010=) c.*2958G= (n.*2958G=) c.2106+182599G= (n.2106+182599G=) n.21G= | |
3 | g.184327306G>T | CA355414589 | EIF2B5,EIF4G1 | c.3519G>T (p.Arg1173=) c.3453G>T (p.Arg1151=) c.2866G>T (n.2866G>T) c.2924G>T (p.Gly975Val) c.3522G>T (p.Arg1174=) c.3027G>T (p.Arg1009=) c.3540G>T (p.Arg1180=) c.3258G>T (p.Arg1086=) c.3402G>T (p.Arg1134=) c.3399G>T (p.Arg1133=) c.3261G>T (p.Arg1087=) c.2934G>T (p.Arg978=) c.2931G>T (p.Arg977=) c.3030G>T (p.Arg1010=) c.*2958G>T (n.*2958G>T) c.2106+182599G>T (n.2106+182599G>T) n.21G>T | |
3 | g.184327307C>A | CA355414595 | EIF2B5,EIF4G1 | c.3520C>A (p.Leu1174Ile) c.3454C>A (p.Leu1152Ile) c.2867C>A (n.2867C>A) c.2925C>A (p.Gly975=) c.3523C>A (p.Leu1175Ile) c.3028C>A (p.Leu1010Ile) c.3541C>A (p.Leu1181Ile) c.3259C>A (p.Leu1087Ile) c.3403C>A (p.Leu1135Ile) c.3400C>A (p.Leu1134Ile) c.3262C>A (p.Leu1088Ile) c.2935C>A (p.Leu979Ile) c.2932C>A (p.Leu978Ile) c.3031C>A (p.Leu1011Ile) c.*2959C>A (n.*2959C>A) c.2106+182600C>A (n.2106+182600C>A) n.22C>A | |
3 | g.184327307C= | CA1425958254 | EIF2B5,EIF4G1 | c.3520C= (p.Leu1174=) c.3454C= (p.Leu1152=) c.2867C= (n.2867C=) c.2925C= (p.Gly975=) c.3523C= (p.Leu1175=) c.3028C= (p.Leu1010=) c.3541C= (p.Leu1181=) c.3259C= (p.Leu1087=) c.3403C= (p.Leu1135=) c.3400C= (p.Leu1134=) c.3262C= (p.Leu1088=) c.2935C= (p.Leu979=) c.2932C= (p.Leu978=) c.3031C= (p.Leu1011=) c.*2959C= (n.*2959C=) c.2106+182600C= (n.2106+182600C=) n.22C= | |
3 | g.184327307C>G | CA355414604 | EIF2B5,EIF4G1 | c.3520C>G (p.Leu1174Val) c.3454C>G (p.Leu1152Val) c.2867C>G (n.2867C>G) c.2925C>G (p.Gly975=) c.3523C>G (p.Leu1175Val) c.3028C>G (p.Leu1010Val) c.3541C>G (p.Leu1181Val) c.3259C>G (p.Leu1087Val) c.3403C>G (p.Leu1135Val) c.3400C>G (p.Leu1134Val) c.3262C>G (p.Leu1088Val) c.2935C>G (p.Leu979Val) c.2932C>G (p.Leu978Val) c.3031C>G (p.Leu1011Val) c.*2959C>G (n.*2959C>G) c.2106+182600C>G (n.2106+182600C>G) n.22C>G | |
3 | g.184327307C>T | CA355414610 | EIF2B5,EIF4G1 | c.3520C>T (p.Leu1174Phe) c.3454C>T (p.Leu1152Phe) c.2867C>T (n.2867C>T) c.2925C>T (p.Gly975=) c.3523C>T (p.Leu1175Phe) c.3028C>T (p.Leu1010Phe) c.3541C>T (p.Leu1181Phe) c.3259C>T (p.Leu1087Phe) c.3403C>T (p.Leu1135Phe) c.3400C>T (p.Leu1134Phe) c.3262C>T (p.Leu1088Phe) c.2935C>T (p.Leu979Phe) c.2932C>T (p.Leu978Phe) c.3031C>T (p.Leu1011Phe) c.*2959C>T (n.*2959C>T) c.2106+182600C>T (n.2106+182600C>T) n.22C>T | dbSNP gnomAD v2 gnomAD v4 |
3 | g.184327308T>A | CA355414624 | EIF2B5,EIF4G1 | c.3521T>A (p.Leu1174His) c.3455T>A (p.Leu1152His) c.2868T>A (n.2868T>A) c.2926T>A (p.Leu976Met) c.3524T>A (p.Leu1175His) c.3029T>A (p.Leu1010His) c.3542T>A (p.Leu1181His) c.3260T>A (p.Leu1087His) c.3404T>A (p.Leu1135His) c.3401T>A (p.Leu1134His) c.3263T>A (p.Leu1088His) c.2936T>A (p.Leu979His) c.2933T>A (p.Leu978His) c.3032T>A (p.Leu1011His) c.*2960T>A (n.*2960T>A) c.2106+182601T>A (n.2106+182601T>A) n.23T>A | |
3 | g.184327308T>C | CA355414620 | EIF2B5,EIF4G1 | c.3521T>C (p.Leu1174Pro) c.3455T>C (p.Leu1152Pro) c.2868T>C (n.2868T>C) c.2926T>C (p.Leu976=) c.3524T>C (p.Leu1175Pro) c.3029T>C (p.Leu1010Pro) c.3542T>C (p.Leu1181Pro) c.3260T>C (p.Leu1087Pro) c.3404T>C (p.Leu1135Pro) c.3401T>C (p.Leu1134Pro) c.3263T>C (p.Leu1088Pro) c.2936T>C (p.Leu979Pro) c.2933T>C (p.Leu978Pro) c.3032T>C (p.Leu1011Pro) c.*2960T>C (n.*2960T>C) c.2106+182601T>C (n.2106+182601T>C) n.23T>C | gnomAD v4 |
3 | g.184327308T>G | CA355414615 | EIF2B5,EIF4G1 | c.3521T>G (p.Leu1174Arg) c.3455T>G (p.Leu1152Arg) c.2868T>G (n.2868T>G) c.2926T>G (p.Leu976Val) c.3524T>G (p.Leu1175Arg) c.3029T>G (p.Leu1010Arg) c.3542T>G (p.Leu1181Arg) c.3260T>G (p.Leu1087Arg) c.3404T>G (p.Leu1135Arg) c.3401T>G (p.Leu1134Arg) c.3263T>G (p.Leu1088Arg) c.2936T>G (p.Leu979Arg) c.2933T>G (p.Leu978Arg) c.3032T>G (p.Leu1011Arg) c.*2960T>G (n.*2960T>G) c.2106+182601T>G (n.2106+182601T>G) n.23T>G | |
3 | g.184327309T>A | CA355414625 | EIF2B5,EIF4G1 | c.3522T>A (p.Leu1174=) c.3456T>A (p.Leu1152=) c.2869T>A (n.2869T>A) c.2927T>A (p.Leu976Ter) c.3525T>A (p.Leu1175=) c.3030T>A (p.Leu1010=) c.3543T>A (p.Leu1181=) c.3261T>A (p.Leu1087=) c.3405T>A (p.Leu1135=) c.3402T>A (p.Leu1134=) c.3264T>A (p.Leu1088=) c.2937T>A (p.Leu979=) c.2934T>A (p.Leu978=) c.3033T>A (p.Leu1011=) c.*2961T>A (n.*2961T>A) c.2106+182602T>A (n.2106+182602T>A) n.24T>A | |
3 | g.184327309T>C | CA355414626 | EIF2B5,EIF4G1 | c.3522T>C (p.Leu1174=) c.3456T>C (p.Leu1152=) c.2869T>C (n.2869T>C) c.2927T>C (p.Leu976Ser) c.3525T>C (p.Leu1175=) c.3030T>C (p.Leu1010=) c.3543T>C (p.Leu1181=) c.3261T>C (p.Leu1087=) c.3405T>C (p.Leu1135=) c.3402T>C (p.Leu1134=) c.3264T>C (p.Leu1088=) c.2937T>C (p.Leu979=) c.2934T>C (p.Leu978=) c.3033T>C (p.Leu1011=) c.*2961T>C (n.*2961T>C) c.2106+182602T>C (n.2106+182602T>C) n.24T>C | |
3 | g.184327309T>G | CA355414627 | EIF2B5,EIF4G1 | c.3522T>G (p.Leu1174=) c.3456T>G (p.Leu1152=) c.2869T>G (n.2869T>G) c.2927T>G (p.Leu976Trp) c.3525T>G (p.Leu1175=) c.3030T>G (p.Leu1010=) c.3543T>G (p.Leu1181=) c.3261T>G (p.Leu1087=) c.3405T>G (p.Leu1135=) c.3402T>G (p.Leu1134=) c.3264T>G (p.Leu1088=) c.2937T>G (p.Leu979=) c.2934T>G (p.Leu978=) c.3033T>G (p.Leu1011=) c.*2961T>G (n.*2961T>G) c.2106+182602T>G (n.2106+182602T>G) n.24T>G | |
3 | g.184327310G>A | CA355414632 | EIF2B5,EIF4G1 | c.3523G>A (p.Asp1175Asn) c.3457G>A (p.Asp1153Asn) c.2870G>A (n.2870G>A) c.2928G>A (p.Leu976=) c.3526G>A (p.Asp1176Asn) c.3031G>A (p.Asp1011Asn) c.3544G>A (p.Asp1182Asn) c.3262G>A (p.Asp1088Asn) c.3406G>A (p.Asp1136Asn) c.3403G>A (p.Asp1135Asn) c.3265G>A (p.Asp1089Asn) c.2938G>A (p.Asp980Asn) c.2935G>A (p.Asp979Asn) c.3034G>A (p.Asp1012Asn) c.*2962G>A (n.*2962G>A) c.2106+182603G>A (n.2106+182603G>A) n.25G>A | |
3 | g.184327310G>C | CA355414636 | EIF2B5,EIF4G1 | c.3523G>C (p.Asp1175His) c.3457G>C (p.Asp1153His) c.2870G>C (n.2870G>C) c.2928G>C (p.Leu976Phe) c.3526G>C (p.Asp1176His) c.3031G>C (p.Asp1011His) c.3544G>C (p.Asp1182His) c.3262G>C (p.Asp1088His) c.3406G>C (p.Asp1136His) c.3403G>C (p.Asp1135His) c.3265G>C (p.Asp1089His) c.2938G>C (p.Asp980His) c.2935G>C (p.Asp979His) c.3034G>C (p.Asp1012His) c.*2962G>C (n.*2962G>C) c.2106+182603G>C (n.2106+182603G>C) n.25G>C | |
3 | g.184327310G= | CA1425958255 | EIF2B5,EIF4G1 | c.3523G= (p.Asp1175=) c.3457G= (p.Asp1153=) c.2870G= (n.2870G=) c.2928G= (p.Leu976=) c.3526G= (p.Asp1176=) c.3031G= (p.Asp1011=) c.3544G= (p.Asp1182=) c.3262G= (p.Asp1088=) c.3406G= (p.Asp1136=) c.3403G= (p.Asp1135=) c.3265G= (p.Asp1089=) c.2938G= (p.Asp980=) c.2935G= (p.Asp979=) c.3034G= (p.Asp1012=) c.*2962G= (n.*2962G=) c.2106+182603G= (n.2106+182603G=) n.25G= | |
3 | g.184327310G>T | CA355414657 | EIF2B5,EIF4G1 | c.3523G>T (p.Asp1175Tyr) c.3457G>T (p.Asp1153Tyr) c.2870G>T (n.2870G>T) c.2928G>T (p.Leu976Phe) c.3526G>T (p.Asp1176Tyr) c.3031G>T (p.Asp1011Tyr) c.3544G>T (p.Asp1182Tyr) c.3262G>T (p.Asp1088Tyr) c.3406G>T (p.Asp1136Tyr) c.3403G>T (p.Asp1135Tyr) c.3265G>T (p.Asp1089Tyr) c.2938G>T (p.Asp980Tyr) c.2935G>T (p.Asp979Tyr) c.3034G>T (p.Asp1012Tyr) c.*2962G>T (n.*2962G>T) c.2106+182603G>T (n.2106+182603G>T) n.25G>T | dbSNP gnomAD v3 gnomAD v4 |
3 | g.184327311A>C | CA355414662 | EIF2B5,EIF4G1 | c.3524A>C (p.Asp1175Ala) c.3458A>C (p.Asp1153Ala) c.2871A>C (n.2871A>C) c.2929A>C (p.Ile977Leu) c.3527A>C (p.Asp1176Ala) c.3032A>C (p.Asp1011Ala) c.3545A>C (p.Asp1182Ala) c.3263A>C (p.Asp1088Ala) c.3407A>C (p.Asp1136Ala) c.3404A>C (p.Asp1135Ala) c.3266A>C (p.Asp1089Ala) c.2939A>C (p.Asp980Ala) c.2936A>C (p.Asp979Ala) c.3035A>C (p.Asp1012Ala) c.*2963A>C (n.*2963A>C) c.2106+182604A>C (n.2106+182604A>C) n.26A>C | |
3 | g.184327311A>G | CA355414676 | EIF2B5,EIF4G1 | c.3524A>G (p.Asp1175Gly) c.3458A>G (p.Asp1153Gly) c.2871A>G (n.2871A>G) c.2929A>G (p.Ile977Val) c.3527A>G (p.Asp1176Gly) c.3032A>G (p.Asp1011Gly) c.3545A>G (p.Asp1182Gly) c.3263A>G (p.Asp1088Gly) c.3407A>G (p.Asp1136Gly) c.3404A>G (p.Asp1135Gly) c.3266A>G (p.Asp1089Gly) c.2939A>G (p.Asp980Gly) c.2936A>G (p.Asp979Gly) c.3035A>G (p.Asp1012Gly) c.*2963A>G (n.*2963A>G) c.2106+182604A>G (n.2106+182604A>G) n.26A>G | |
3 | g.184327311A>T | CA355414680 | EIF2B5,EIF4G1 | c.3524A>T (p.Asp1175Val) c.3458A>T (p.Asp1153Val) c.2871A>T (n.2871A>T) c.2929A>T (p.Ile977Phe) c.3527A>T (p.Asp1176Val) c.3032A>T (p.Asp1011Val) c.3545A>T (p.Asp1182Val) c.3263A>T (p.Asp1088Val) c.3407A>T (p.Asp1136Val) c.3404A>T (p.Asp1135Val) c.3266A>T (p.Asp1089Val) c.2939A>T (p.Asp980Val) c.2936A>T (p.Asp979Val) c.3035A>T (p.Asp1012Val) c.*2963A>T (n.*2963A>T) c.2106+182604A>T (n.2106+182604A>T) n.26A>T | gnomAD v4 |
3 | g.184327312T>A | CA355414686 | EIF2B5,EIF4G1 | c.3525T>A (p.Asp1175Glu) c.3459T>A (p.Asp1153Glu) c.2872T>A (n.2872T>A) c.2930T>A (p.Ile977Asn) c.3528T>A (p.Asp1176Glu) c.3033T>A (p.Asp1011Glu) c.3546T>A (p.Asp1182Glu) c.3264T>A (p.Asp1088Glu) c.3408T>A (p.Asp1136Glu) c.3405T>A (p.Asp1135Glu) c.3267T>A (p.Asp1089Glu) c.2940T>A (p.Asp980Glu) c.2937T>A (p.Asp979Glu) c.3036T>A (p.Asp1012Glu) c.*2964T>A (n.*2964T>A) c.2106+182605T>A (n.2106+182605T>A) n.27T>A | |
3 | g.184327312T>C | CA355414700 | EIF2B5,EIF4G1 | c.3525T>C (p.Asp1175=) c.3459T>C (p.Asp1153=) c.2872T>C (n.2872T>C) c.2930T>C (p.Ile977Thr) c.3528T>C (p.Asp1176=) c.3033T>C (p.Asp1011=) c.3546T>C (p.Asp1182=) c.3264T>C (p.Asp1088=) c.3408T>C (p.Asp1136=) c.3405T>C (p.Asp1135=) c.3267T>C (p.Asp1089=) c.2940T>C (p.Asp980=) c.2937T>C (p.Asp979=) c.3036T>C (p.Asp1012=) c.*2964T>C (n.*2964T>C) c.2106+182605T>C (n.2106+182605T>C) n.27T>C | |
3 | g.184327312T>G | CA355414702 | EIF2B5,EIF4G1 | c.3525T>G (p.Asp1175Glu) c.3459T>G (p.Asp1153Glu) c.2872T>G (n.2872T>G) c.2930T>G (p.Ile977Ser) c.3528T>G (p.Asp1176Glu) c.3033T>G (p.Asp1011Glu) c.3546T>G (p.Asp1182Glu) c.3264T>G (p.Asp1088Glu) c.3408T>G (p.Asp1136Glu) c.3405T>G (p.Asp1135Glu) c.3267T>G (p.Asp1089Glu) c.2940T>G (p.Asp980Glu) c.2937T>G (p.Asp979Glu) c.3036T>G (p.Asp1012Glu) c.*2964T>G (n.*2964T>G) c.2106+182605T>G (n.2106+182605T>G) n.27T>G | |
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 |