UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| 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.184327280G>A | CA355414255 | EIF2B5,EIF4G1 | c.3493G>A (p.Glu1165Lys) c.3427G>A (p.Glu1143Lys) c.2840G>A (n.2840G>A) c.2898G>A (p.Val966=) c.3496G>A (p.Glu1166Lys) c.3001G>A (p.Glu1001Lys) c.3514G>A (p.Glu1172Lys) c.3232G>A (p.Glu1078Lys) c.3376G>A (p.Glu1126Lys) c.3373G>A (p.Glu1125Lys) c.3235G>A (p.Glu1079Lys) c.2908G>A (p.Glu970Lys) c.2905G>A (p.Glu969Lys) c.3004G>A (p.Glu1002Lys) c.*2932G>A (n.*2932G>A) c.2106+182573G>A (n.2106+182573G>A) c.654G>A | gnomAD v4 |
| 3 | g.184327280G>C | CA355414257 | EIF2B5,EIF4G1 | c.3493G>C (p.Glu1165Gln) c.3427G>C (p.Glu1143Gln) c.2840G>C (n.2840G>C) c.2898G>C (p.Val966=) c.3496G>C (p.Glu1166Gln) c.3001G>C (p.Glu1001Gln) c.3514G>C (p.Glu1172Gln) c.3232G>C (p.Glu1078Gln) c.3376G>C (p.Glu1126Gln) c.3373G>C (p.Glu1125Gln) c.3235G>C (p.Glu1079Gln) c.2908G>C (p.Glu970Gln) c.2905G>C (p.Glu969Gln) c.3004G>C (p.Glu1002Gln) c.*2932G>C (n.*2932G>C) c.2106+182573G>C (n.2106+182573G>C) c.654G>C | dbSNP |
| 3 | g.184327280G= | CA1425958214 | EIF2B5,EIF4G1 | c.3493G= (p.Glu1165=) c.3427G= (p.Glu1143=) c.2840G= (n.2840G=) c.2898G= (p.Val966=) c.3496G= (p.Glu1166=) c.3001G= (p.Glu1001=) c.3514G= (p.Glu1172=) c.3232G= (p.Glu1078=) c.3376G= (p.Glu1126=) c.3373G= (p.Glu1125=) c.3235G= (p.Glu1079=) c.2908G= (p.Glu970=) c.2905G= (p.Glu969=) c.3004G= (p.Glu1002=) c.*2932G= (n.*2932G=) c.2106+182573G= (n.2106+182573G=) c.654G= | |
| 3 | g.184327280G>T | CA355414258 | EIF2B5,EIF4G1 | c.3493G>T (p.Glu1165Ter) c.3427G>T (p.Glu1143Ter) c.2840G>T (n.2840G>T) c.2898G>T (p.Val966=) c.3496G>T (p.Glu1166Ter) c.3001G>T (p.Glu1001Ter) c.3514G>T (p.Glu1172Ter) c.3232G>T (p.Glu1078Ter) c.3376G>T (p.Glu1126Ter) c.3373G>T (p.Glu1125Ter) c.3235G>T (p.Glu1079Ter) c.2908G>T (p.Glu970Ter) c.2905G>T (p.Glu969Ter) c.3004G>T (p.Glu1002Ter) c.*2932G>T (n.*2932G>T) c.2106+182573G>T (n.2106+182573G>T) c.654G>T | |
| 3 | g.184327281A>C | CA355414267 | EIF2B5,EIF4G1 | c.3494A>C (p.Glu1165Ala) c.3428A>C (p.Glu1143Ala) c.2841A>C (n.2841A>C) c.2899A>C (p.Asn967His) c.3497A>C (p.Glu1166Ala) c.3002A>C (p.Glu1001Ala) c.3515A>C (p.Glu1172Ala) c.3233A>C (p.Glu1078Ala) c.3377A>C (p.Glu1126Ala) c.3374A>C (p.Glu1125Ala) c.3236A>C (p.Glu1079Ala) c.2909A>C (p.Glu970Ala) c.2906A>C (p.Glu969Ala) c.3005A>C (p.Glu1002Ala) c.*2933A>C (n.*2933A>C) c.2106+182574A>C (n.2106+182574A>C) c.655A>C | |
| 3 | g.184327281A>G | CA355414262 | EIF2B5,EIF4G1 | c.3494A>G (p.Glu1165Gly) c.3428A>G (p.Glu1143Gly) c.2841A>G (n.2841A>G) c.2899A>G (p.Asn967Asp) c.3497A>G (p.Glu1166Gly) c.3002A>G (p.Glu1001Gly) c.3515A>G (p.Glu1172Gly) c.3233A>G (p.Glu1078Gly) c.3377A>G (p.Glu1126Gly) c.3374A>G (p.Glu1125Gly) c.3236A>G (p.Glu1079Gly) c.2909A>G (p.Glu970Gly) c.2906A>G (p.Glu969Gly) c.3005A>G (p.Glu1002Gly) c.*2933A>G (n.*2933A>G) c.2106+182574A>G (n.2106+182574A>G) c.655A>G | |
| 3 | g.184327281A>T | CA355414260 | EIF2B5,EIF4G1 | c.3494A>T (p.Glu1165Val) c.3428A>T (p.Glu1143Val) c.2841A>T (n.2841A>T) c.2899A>T (p.Asn967Tyr) c.3497A>T (p.Glu1166Val) c.3002A>T (p.Glu1001Val) c.3515A>T (p.Glu1172Val) c.3233A>T (p.Glu1078Val) c.3377A>T (p.Glu1126Val) c.3374A>T (p.Glu1125Val) c.3236A>T (p.Glu1079Val) c.2909A>T (p.Glu970Val) c.2906A>T (p.Glu969Val) c.3005A>T (p.Glu1002Val) c.*2933A>T (n.*2933A>T) c.2106+182574A>T (n.2106+182574A>T) c.655A>T | |
| 3 | g.184327282A>C | CA355414271 | EIF2B5,EIF4G1 | c.3495A>C (p.Glu1165Asp) c.3429A>C (p.Glu1143Asp) c.2842A>C (n.2842A>C) c.2900A>C (p.Asn967Thr) c.3498A>C (p.Glu1166Asp) c.3003A>C (p.Glu1001Asp) c.3516A>C (p.Glu1172Asp) c.3234A>C (p.Glu1078Asp) c.3378A>C (p.Glu1126Asp) c.3375A>C (p.Glu1125Asp) c.3237A>C (p.Glu1079Asp) c.2910A>C (p.Glu970Asp) c.2907A>C (p.Glu969Asp) c.3006A>C (p.Glu1002Asp) c.*2934A>C (n.*2934A>C) c.2106+182575A>C (n.2106+182575A>C) c.656A>C | |
| 3 | g.184327282A>G | CA355414273 | EIF2B5,EIF4G1 | c.3495A>G (p.Glu1165=) c.3429A>G (p.Glu1143=) c.2842A>G (n.2842A>G) c.2900A>G (p.Asn967Ser) c.3498A>G (p.Glu1166=) c.3003A>G (p.Glu1001=) c.3516A>G (p.Glu1172=) c.3234A>G (p.Glu1078=) c.3378A>G (p.Glu1126=) c.3375A>G (p.Glu1125=) c.3237A>G (p.Glu1079=) c.2910A>G (p.Glu970=) c.2907A>G (p.Glu969=) c.3006A>G (p.Glu1002=) c.*2934A>G (n.*2934A>G) c.2106+182575A>G (n.2106+182575A>G) c.656A>G | |
| 3 | g.184327282A>T | CA355414279 | EIF2B5,EIF4G1 | c.3495A>T (p.Glu1165Asp) c.3429A>T (p.Glu1143Asp) c.2842A>T (n.2842A>T) c.2900A>T (p.Asn967Ile) c.3498A>T (p.Glu1166Asp) c.3003A>T (p.Glu1001Asp) c.3516A>T (p.Glu1172Asp) c.3234A>T (p.Glu1078Asp) c.3378A>T (p.Glu1126Asp) c.3375A>T (p.Glu1125Asp) c.3237A>T (p.Glu1079Asp) c.2910A>T (p.Glu970Asp) c.2907A>T (p.Glu969Asp) c.3006A>T (p.Glu1002Asp) c.*2934A>T (n.*2934A>T) c.2106+182575A>T (n.2106+182575A>T) c.656A>T | |
| 3 | g.184327283C>A | CA355414280 | EIF2B5,EIF4G1 | c.3496C>A (p.Arg1166=) c.3430C>A (p.Arg1144=) c.2843C>A (n.2843C>A) c.2901C>A (p.Asn967Lys) c.3499C>A (p.Arg1167=) c.3004C>A (p.Arg1002=) c.3517C>A (p.Arg1173=) c.3235C>A (p.Arg1079=) c.3379C>A (p.Arg1127=) c.3376C>A (p.Arg1126=) c.3238C>A (p.Arg1080=) c.2911C>A (p.Arg971=) c.2908C>A (p.Arg970=) c.3007C>A (p.Arg1003=) c.*2935C>A (n.*2935C>A) c.2106+182576C>A (n.2106+182576C>A) c.657C>A | gnomAD v4 |
| 3 | g.184327283C= | CA1425958218 | EIF2B5,EIF4G1 | c.3496C= (p.Arg1166=) c.3430C= (p.Arg1144=) c.2843C= (n.2843C=) c.2901C= (p.Asn967=) c.3499C= (p.Arg1167=) c.3004C= (p.Arg1002=) c.3517C= (p.Arg1173=) c.3235C= (p.Arg1079=) c.3379C= (p.Arg1127=) c.3376C= (p.Arg1126=) c.3238C= (p.Arg1080=) c.2911C= (p.Arg971=) c.2908C= (p.Arg970=) c.3007C= (p.Arg1003=) c.*2935C= (n.*2935C=) c.2106+182576C= (n.2106+182576C=) c.657C= | |
| 3 | g.184327283C>G | CA355414281 | EIF2B5,EIF4G1 | c.3496C>G (p.Arg1166Gly) c.3430C>G (p.Arg1144Gly) c.2843C>G (n.2843C>G) c.2901C>G (p.Asn967Lys) c.3499C>G (p.Arg1167Gly) c.3004C>G (p.Arg1002Gly) c.3517C>G (p.Arg1173Gly) c.3235C>G (p.Arg1079Gly) c.3379C>G (p.Arg1127Gly) c.3376C>G (p.Arg1126Gly) c.3238C>G (p.Arg1080Gly) c.2911C>G (p.Arg971Gly) c.2908C>G (p.Arg970Gly) c.3007C>G (p.Arg1003Gly) c.*2935C>G (n.*2935C>G) c.2106+182576C>G (n.2106+182576C>G) c.657C>G | |
| 3 | g.184327283C>T | CA2732827 | EIF2B5,EIF4G1 | c.3496C>T (p.Arg1166Trp) c.3430C>T (p.Arg1144Trp) c.2843C>T (n.2843C>T) c.2901C>T (p.Asn967=) c.3499C>T (p.Arg1167Trp) c.3004C>T (p.Arg1002Trp) c.3517C>T (p.Arg1173Trp) c.3235C>T (p.Arg1079Trp) c.3379C>T (p.Arg1127Trp) c.3376C>T (p.Arg1126Trp) c.3238C>T (p.Arg1080Trp) c.2911C>T (p.Arg971Trp) c.2908C>T (p.Arg970Trp) c.3007C>T (p.Arg1003Trp) c.*2935C>T (n.*2935C>T) c.2106+182576C>T (n.2106+182576C>T) c.657C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.184327284G>A | CA2732828 | EIF2B5,EIF4G1 | c.3497G>A (p.Arg1166Gln) c.3431G>A (p.Arg1144Gln) c.2844G>A (n.2844G>A) c.2902G>A (p.Gly968Arg) c.3500G>A (p.Arg1167Gln) c.3005G>A (p.Arg1002Gln) c.3518G>A (p.Arg1173Gln) c.3236G>A (p.Arg1079Gln) c.3380G>A (p.Arg1127Gln) c.3377G>A (p.Arg1126Gln) c.3239G>A (p.Arg1080Gln) c.2912G>A (p.Arg971Gln) c.2909G>A (p.Arg970Gln) c.3008G>A (p.Arg1003Gln) c.*2936G>A (n.*2936G>A) c.2106+182577G>A (n.2106+182577G>A) c.658G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.184327284G>C | CA355414286 | EIF2B5,EIF4G1 | c.3497G>C (p.Arg1166Pro) c.3431G>C (p.Arg1144Pro) c.2844G>C (n.2844G>C) c.2902G>C (p.Gly968Arg) c.3500G>C (p.Arg1167Pro) c.3005G>C (p.Arg1002Pro) c.3518G>C (p.Arg1173Pro) c.3236G>C (p.Arg1079Pro) c.3380G>C (p.Arg1127Pro) c.3377G>C (p.Arg1126Pro) c.3239G>C (p.Arg1080Pro) c.2912G>C (p.Arg971Pro) c.2909G>C (p.Arg970Pro) c.3008G>C (p.Arg1003Pro) c.*2936G>C (n.*2936G>C) c.2106+182577G>C (n.2106+182577G>C) c.658G>C | gnomAD v4 |
| 3 | g.184327284G= | CA1425958221 | EIF2B5,EIF4G1 | c.3497G= (p.Arg1166=) c.3431G= (p.Arg1144=) c.2844G= (n.2844G=) c.2902G= (p.Gly968=) c.3500G= (p.Arg1167=) c.3005G= (p.Arg1002=) c.3518G= (p.Arg1173=) c.3236G= (p.Arg1079=) c.3380G= (p.Arg1127=) c.3377G= (p.Arg1126=) c.3239G= (p.Arg1080=) c.2912G= (p.Arg971=) c.2909G= (p.Arg970=) c.3008G= (p.Arg1003=) c.*2936G= (n.*2936G=) c.2106+182577G= (n.2106+182577G=) c.658G= | |
| 3 | g.184327284G>T | CA355414290 | EIF2B5,EIF4G1 | c.3497G>T (p.Arg1166Leu) c.3431G>T (p.Arg1144Leu) c.2844G>T (n.2844G>T) c.2902G>T (p.Gly968Trp) c.3500G>T (p.Arg1167Leu) c.3005G>T (p.Arg1002Leu) c.3518G>T (p.Arg1173Leu) c.3236G>T (p.Arg1079Leu) c.3380G>T (p.Arg1127Leu) c.3377G>T (p.Arg1126Leu) c.3239G>T (p.Arg1080Leu) c.2912G>T (p.Arg971Leu) c.2909G>T (p.Arg970Leu) c.3008G>T (p.Arg1003Leu) c.*2936G>T (n.*2936G>T) c.2106+182577G>T (n.2106+182577G>T) c.658G>T | |
| 3 | g.184327285G>A | CA355414295 | EIF2B5,EIF4G1 | c.3498G>A (p.Arg1166=) c.3432G>A (p.Arg1144=) c.2845G>A (n.2845G>A) c.2903G>A (p.Gly968Glu) c.3501G>A (p.Arg1167=) c.3006G>A (p.Arg1002=) c.3519G>A (p.Arg1173=) c.3237G>A (p.Arg1079=) c.3381G>A (p.Arg1127=) c.3378G>A (p.Arg1126=) c.3240G>A (p.Arg1080=) c.2913G>A (p.Arg971=) c.2910G>A (p.Arg970=) c.3009G>A (p.Arg1003=) c.*2937G>A (n.*2937G>A) c.2106+182578G>A (n.2106+182578G>A) c.659G>A | gnomAD v4 |
| 3 | g.184327285G>C | CA355414299 | EIF2B5,EIF4G1 | c.3498G>C (p.Arg1166=) c.3432G>C (p.Arg1144=) c.2845G>C (n.2845G>C) c.2903G>C (p.Gly968Ala) c.3501G>C (p.Arg1167=) c.3006G>C (p.Arg1002=) c.3519G>C (p.Arg1173=) c.3237G>C (p.Arg1079=) c.3381G>C (p.Arg1127=) c.3378G>C (p.Arg1126=) c.3240G>C (p.Arg1080=) c.2913G>C (p.Arg971=) c.2910G>C (p.Arg970=) c.3009G>C (p.Arg1003=) c.*2937G>C (n.*2937G>C) c.2106+182578G>C (n.2106+182578G>C) c.659G>C | |
| 3 | g.184327285G>T | CA355414302 | EIF2B5,EIF4G1 | c.3498G>T (p.Arg1166=) c.3432G>T (p.Arg1144=) c.2845G>T (n.2845G>T) c.2903G>T (p.Gly968Val) c.3501G>T (p.Arg1167=) c.3006G>T (p.Arg1002=) c.3519G>T (p.Arg1173=) c.3237G>T (p.Arg1079=) c.3381G>T (p.Arg1127=) c.3378G>T (p.Arg1126=) c.3240G>T (p.Arg1080=) c.2913G>T (p.Arg971=) c.2910G>T (p.Arg970=) c.3009G>T (p.Arg1003=) c.*2937G>T (n.*2937G>T) c.2106+182578G>T (n.2106+182578G>T) c.659G>T | |
| 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 |