WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.184327401G>A | CA128909 | EIF2B5,EIF4G1 | c.3614G>A (p.Arg1205His) c.3548G>A (p.Arg1183His) c.2961G>A (n.2961G>A) c.3017G>A (p.Arg1006His) c.3617G>A (p.Arg1206His) c.3122G>A (p.Arg1041His) c.3635G>A (p.Arg1212His) c.3353G>A (p.Arg1118His) c.3497G>A (p.Arg1166His) c.3494G>A (p.Arg1165His) c.3356G>A (p.Arg1119His) c.3029G>A (p.Arg1010His) c.3026G>A (p.Arg1009His) c.3125G>A (p.Arg1042His) c.*3053G>A (n.*3053G>A) c.2106+182694G>A (n.2106+182694G>A) n.116G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.184327401G>C | CA355415286 | EIF2B5,EIF4G1 | c.3614G>C (p.Arg1205Pro) c.3548G>C (p.Arg1183Pro) c.2961G>C (n.2961G>C) c.3017G>C (p.Arg1006Pro) c.3617G>C (p.Arg1206Pro) c.3122G>C (p.Arg1041Pro) c.3635G>C (p.Arg1212Pro) c.3353G>C (p.Arg1118Pro) c.3497G>C (p.Arg1166Pro) c.3494G>C (p.Arg1165Pro) c.3356G>C (p.Arg1119Pro) c.3029G>C (p.Arg1010Pro) c.3026G>C (p.Arg1009Pro) c.3125G>C (p.Arg1042Pro) c.*3053G>C (n.*3053G>C) c.2106+182694G>C (n.2106+182694G>C) n.116G>C | |
| 3 | g.184327401G= | CA1425958399 | EIF2B5,EIF4G1 | c.3614G= (p.Arg1205=) c.3548G= (p.Arg1183=) c.2961G= (n.2961G=) c.3017G= (p.Arg1006=) c.3617G= (p.Arg1206=) c.3122G= (p.Arg1041=) c.3635G= (p.Arg1212=) c.3353G= (p.Arg1118=) c.3497G= (p.Arg1166=) c.3494G= (p.Arg1165=) c.3356G= (p.Arg1119=) c.3029G= (p.Arg1010=) c.3026G= (p.Arg1009=) c.3125G= (p.Arg1042=) c.*3053G= (n.*3053G=) c.2106+182694G= (n.2106+182694G=) n.116G= | |
| 3 | g.184327401G>T | CA355415284 | EIF2B5,EIF4G1 | c.3614G>T (p.Arg1205Leu) c.3548G>T (p.Arg1183Leu) c.2961G>T (n.2961G>T) c.3017G>T (p.Arg1006Leu) c.3617G>T (p.Arg1206Leu) c.3122G>T (p.Arg1041Leu) c.3635G>T (p.Arg1212Leu) c.3353G>T (p.Arg1118Leu) c.3497G>T (p.Arg1166Leu) c.3494G>T (p.Arg1165Leu) c.3356G>T (p.Arg1119Leu) c.3029G>T (p.Arg1010Leu) c.3026G>T (p.Arg1009Leu) c.3125G>T (p.Arg1042Leu) c.*3053G>T (n.*3053G>T) c.2106+182694G>T (n.2106+182694G>T) n.116G>T | dbSNP gnomAD v4 |
| 3 | g.184327402C>A | CA437330627 | EIF2B5,EIF4G1 | c.3615C>A (p.Arg1205=) c.3549C>A (p.Arg1183=) c.2962C>A (n.2962C>A) c.3018C>A (p.Arg1006=) c.3618C>A (p.Arg1206=) c.3123C>A (p.Arg1041=) c.3636C>A (p.Arg1212=) c.3354C>A (p.Arg1118=) c.3498C>A (p.Arg1166=) c.3495C>A (p.Arg1165=) c.3357C>A (p.Arg1119=) c.3030C>A (p.Arg1010=) c.3027C>A (p.Arg1009=) c.3126C>A (p.Arg1042=) c.*3054C>A (n.*3054C>A) c.2106+182695C>A (n.2106+182695C>A) n.117C>A | |
| 3 | g.184327402C= | CA1425958407 | EIF2B5,EIF4G1 | c.3615C= (p.Arg1205=) c.3549C= (p.Arg1183=) c.2962C= (n.2962C=) c.3018C= (p.Arg1006=) c.3618C= (p.Arg1206=) c.3123C= (p.Arg1041=) c.3636C= (p.Arg1212=) c.3354C= (p.Arg1118=) c.3498C= (p.Arg1166=) c.3495C= (p.Arg1165=) c.3357C= (p.Arg1119=) c.3030C= (p.Arg1010=) c.3027C= (p.Arg1009=) c.3126C= (p.Arg1042=) c.*3054C= (n.*3054C=) c.2106+182695C= (n.2106+182695C=) n.117C= | |
| 3 | g.184327402C>G | CA437330626 | EIF2B5,EIF4G1 | c.3615C>G (p.Arg1205=) c.3549C>G (p.Arg1183=) c.2962C>G (n.2962C>G) c.3018C>G (p.Arg1006=) c.3618C>G (p.Arg1206=) c.3123C>G (p.Arg1041=) c.3636C>G (p.Arg1212=) c.3354C>G (p.Arg1118=) c.3498C>G (p.Arg1166=) c.3495C>G (p.Arg1165=) c.3357C>G (p.Arg1119=) c.3030C>G (p.Arg1010=) c.3027C>G (p.Arg1009=) c.3126C>G (p.Arg1042=) c.*3054C>G (n.*3054C>G) c.2106+182695C>G (n.2106+182695C>G) n.117C>G | |
| 3 | g.184327402C>T | CA2732857 | EIF2B5,EIF4G1 | c.3615C>T (p.Arg1205=) c.3549C>T (p.Arg1183=) c.2962C>T (n.2962C>T) c.3018C>T (p.Arg1006=) c.3618C>T (p.Arg1206=) c.3123C>T (p.Arg1041=) c.3636C>T (p.Arg1212=) c.3354C>T (p.Arg1118=) c.3498C>T (p.Arg1166=) c.3495C>T (p.Arg1165=) c.3357C>T (p.Arg1119=) c.3030C>T (p.Arg1010=) c.3027C>T (p.Arg1009=) c.3126C>T (p.Arg1042=) c.*3054C>T (n.*3054C>T) c.2106+182695C>T (n.2106+182695C>T) n.117C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.184327403A= | CA1425958410 | EIF2B5,EIF4G1 | c.3616A= (p.Lys1206=) c.3550A= (p.Lys1184=) c.2963A= (n.2963A=) c.3019A= (p.Lys1007=) c.3619A= (p.Lys1207=) c.3124A= (p.Lys1042=) c.3637A= (p.Lys1213=) c.3355A= (p.Lys1119=) c.3499A= (p.Lys1167=) c.3496A= (p.Lys1166=) c.3358A= (p.Lys1120=) c.3031A= (p.Lys1011=) c.3028A= (p.Lys1010=) c.3127A= (p.Lys1043=) c.*3055A= (n.*3055A=) c.2106+182696A= (n.2106+182696A=) n.118A= | |
| 3 | g.184327403A>C | CA355415293 | EIF2B5,EIF4G1 | c.3616A>C (p.Lys1206Gln) c.3550A>C (p.Lys1184Gln) c.2963A>C (n.2963A>C) c.3019A>C (p.Lys1007Gln) c.3619A>C (p.Lys1207Gln) c.3124A>C (p.Lys1042Gln) c.3637A>C (p.Lys1213Gln) c.3355A>C (p.Lys1119Gln) c.3499A>C (p.Lys1167Gln) c.3496A>C (p.Lys1166Gln) c.3358A>C (p.Lys1120Gln) c.3031A>C (p.Lys1011Gln) c.3028A>C (p.Lys1010Gln) c.3127A>C (p.Lys1043Gln) c.*3055A>C (n.*3055A>C) c.2106+182696A>C (n.2106+182696A>C) n.118A>C | |
| 3 | g.184327403A>G | CA88867659 | EIF2B5,EIF4G1 | c.3616A>G (p.Lys1206Glu) c.3550A>G (p.Lys1184Glu) c.2963A>G (n.2963A>G) c.3019A>G (p.Lys1007Glu) c.3619A>G (p.Lys1207Glu) c.3124A>G (p.Lys1042Glu) c.3637A>G (p.Lys1213Glu) c.3355A>G (p.Lys1119Glu) c.3499A>G (p.Lys1167Glu) c.3496A>G (p.Lys1166Glu) c.3358A>G (p.Lys1120Glu) c.3031A>G (p.Lys1011Glu) c.3028A>G (p.Lys1010Glu) c.3127A>G (p.Lys1043Glu) c.*3055A>G (n.*3055A>G) c.2106+182696A>G (n.2106+182696A>G) n.118A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.184327403A>T | CA355415296 | EIF2B5,EIF4G1 | c.3616A>T (p.Lys1206Ter) c.3550A>T (p.Lys1184Ter) c.2963A>T (n.2963A>T) c.3019A>T (p.Lys1007Ter) c.3619A>T (p.Lys1207Ter) c.3124A>T (p.Lys1042Ter) c.3637A>T (p.Lys1213Ter) c.3355A>T (p.Lys1119Ter) c.3499A>T (p.Lys1167Ter) c.3496A>T (p.Lys1166Ter) c.3358A>T (p.Lys1120Ter) c.3031A>T (p.Lys1011Ter) c.3028A>T (p.Lys1010Ter) c.3127A>T (p.Lys1043Ter) c.*3055A>T (n.*3055A>T) c.2106+182696A>T (n.2106+182696A>T) n.118A>T | |
| 3 | g.184327404A>C | CA355415300 | EIF2B5,EIF4G1 | c.3617A>C (p.Lys1206Thr) c.3551A>C (p.Lys1184Thr) c.2964A>C (n.2964A>C) c.3020A>C (p.Lys1007Thr) c.3620A>C (p.Lys1207Thr) c.3125A>C (p.Lys1042Thr) c.3638A>C (p.Lys1213Thr) c.3356A>C (p.Lys1119Thr) c.3500A>C (p.Lys1167Thr) c.3497A>C (p.Lys1166Thr) c.3359A>C (p.Lys1120Thr) c.3032A>C (p.Lys1011Thr) c.3029A>C (p.Lys1010Thr) c.3128A>C (p.Lys1043Thr) c.*3056A>C (n.*3056A>C) c.2106+182697A>C (n.2106+182697A>C) n.119A>C | |
| 3 | g.184327404A>G | CA355415304 | EIF2B5,EIF4G1 | c.3617A>G (p.Lys1206Arg) c.3551A>G (p.Lys1184Arg) c.2964A>G (n.2964A>G) c.3020A>G (p.Lys1007Arg) c.3620A>G (p.Lys1207Arg) c.3125A>G (p.Lys1042Arg) c.3638A>G (p.Lys1213Arg) c.3356A>G (p.Lys1119Arg) c.3500A>G (p.Lys1167Arg) c.3497A>G (p.Lys1166Arg) c.3359A>G (p.Lys1120Arg) c.3032A>G (p.Lys1011Arg) c.3029A>G (p.Lys1010Arg) c.3128A>G (p.Lys1043Arg) c.*3056A>G (n.*3056A>G) c.2106+182697A>G (n.2106+182697A>G) n.119A>G | |
| 3 | g.184327404A>T | CA355415306 | EIF2B5,EIF4G1 | c.3617A>T (p.Lys1206Met) c.3551A>T (p.Lys1184Met) c.2964A>T (n.2964A>T) c.3020A>T (p.Lys1007Met) c.3620A>T (p.Lys1207Met) c.3125A>T (p.Lys1042Met) c.3638A>T (p.Lys1213Met) c.3356A>T (p.Lys1119Met) c.3500A>T (p.Lys1167Met) c.3497A>T (p.Lys1166Met) c.3359A>T (p.Lys1120Met) c.3032A>T (p.Lys1011Met) c.3029A>T (p.Lys1010Met) c.3128A>T (p.Lys1043Met) c.*3056A>T (n.*3056A>T) c.2106+182697A>T (n.2106+182697A>T) n.119A>T | |
| 3 | g.184327405G>A | CA88867665 | EIF2B5,EIF4G1 | c.3618G>A (p.Lys1206=) c.3552G>A (p.Lys1184=) c.2965G>A (n.2965G>A) c.3021G>A (p.Lys1007=) c.3621G>A (p.Lys1207=) c.3126G>A (p.Lys1042=) c.3639G>A (p.Lys1213=) c.3357G>A (p.Lys1119=) c.3501G>A (p.Lys1167=) c.3498G>A (p.Lys1166=) c.3360G>A (p.Lys1120=) c.3033G>A (p.Lys1011=) c.3030G>A (p.Lys1010=) c.3129G>A (p.Lys1043=) c.*3057G>A (n.*3057G>A) c.2106+182698G>A (n.2106+182698G>A) n.120G>A | dbSNP |
| 3 | g.184327405G>C | CA355415314 | EIF2B5,EIF4G1 | c.3618G>C (p.Lys1206Asn) c.3552G>C (p.Lys1184Asn) c.2965G>C (n.2965G>C) c.3021G>C (p.Lys1007Asn) c.3621G>C (p.Lys1207Asn) c.3126G>C (p.Lys1042Asn) c.3639G>C (p.Lys1213Asn) c.3357G>C (p.Lys1119Asn) c.3501G>C (p.Lys1167Asn) c.3498G>C (p.Lys1166Asn) c.3360G>C (p.Lys1120Asn) c.3033G>C (p.Lys1011Asn) c.3030G>C (p.Lys1010Asn) c.3129G>C (p.Lys1043Asn) c.*3057G>C (n.*3057G>C) c.2106+182698G>C (n.2106+182698G>C) n.120G>C | |
| 3 | g.184327405G= | CA1425958413 | EIF2B5,EIF4G1 | c.3618G= (p.Lys1206=) c.3552G= (p.Lys1184=) c.2965G= (n.2965G=) c.3021G= (p.Lys1007=) c.3621G= (p.Lys1207=) c.3126G= (p.Lys1042=) c.3639G= (p.Lys1213=) c.3357G= (p.Lys1119=) c.3501G= (p.Lys1167=) c.3498G= (p.Lys1166=) c.3360G= (p.Lys1120=) c.3033G= (p.Lys1011=) c.3030G= (p.Lys1010=) c.3129G= (p.Lys1043=) c.*3057G= (n.*3057G=) c.2106+182698G= (n.2106+182698G=) n.120G= | |
| 3 | g.184327405G>T | CA355415312 | EIF2B5,EIF4G1 | c.3618G>T (p.Lys1206Asn) c.3552G>T (p.Lys1184Asn) c.2965G>T (n.2965G>T) c.3021G>T (p.Lys1007Asn) c.3621G>T (p.Lys1207Asn) c.3126G>T (p.Lys1042Asn) c.3639G>T (p.Lys1213Asn) c.3357G>T (p.Lys1119Asn) c.3501G>T (p.Lys1167Asn) c.3498G>T (p.Lys1166Asn) c.3360G>T (p.Lys1120Asn) c.3033G>T (p.Lys1011Asn) c.3030G>T (p.Lys1010Asn) c.3129G>T (p.Lys1043Asn) c.*3057G>T (n.*3057G>T) c.2106+182698G>T (n.2106+182698G>T) n.120G>T | |
| 3 | g.184327406G>A | CA355415316 | EIF2B5,EIF4G1 | c.3619G>A (p.Ala1207Thr) c.3553G>A (p.Ala1185Thr) c.2966G>A (n.2966G>A) c.3022G>A (p.Ala1008Thr) c.3622G>A (p.Ala1208Thr) c.3127G>A (p.Ala1043Thr) c.3640G>A (p.Ala1214Thr) c.3358G>A (p.Ala1120Thr) c.3502G>A (p.Ala1168Thr) c.3499G>A (p.Ala1167Thr) c.3361G>A (p.Ala1121Thr) c.3034G>A (p.Ala1012Thr) c.3031G>A (p.Ala1011Thr) c.3130G>A (p.Ala1044Thr) c.*3058G>A (n.*3058G>A) c.2106+182699G>A (n.2106+182699G>A) n.121G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.184327406G>C | CA355415317 | EIF2B5,EIF4G1 | c.3619G>C (p.Ala1207Pro) c.3553G>C (p.Ala1185Pro) c.2966G>C (n.2966G>C) c.3022G>C (p.Ala1008Pro) c.3622G>C (p.Ala1208Pro) c.3127G>C (p.Ala1043Pro) c.3640G>C (p.Ala1214Pro) c.3358G>C (p.Ala1120Pro) c.3502G>C (p.Ala1168Pro) c.3499G>C (p.Ala1167Pro) c.3361G>C (p.Ala1121Pro) c.3034G>C (p.Ala1012Pro) c.3031G>C (p.Ala1011Pro) c.3130G>C (p.Ala1044Pro) c.*3058G>C (n.*3058G>C) c.2106+182699G>C (n.2106+182699G>C) n.121G>C | gnomAD v4 |
| 3 | g.184327406G= | CA1425958416 | EIF2B5,EIF4G1 | c.3619G= (p.Ala1207=) c.3553G= (p.Ala1185=) c.2966G= (n.2966G=) c.3022G= (p.Ala1008=) c.3622G= (p.Ala1208=) c.3127G= (p.Ala1043=) c.3640G= (p.Ala1214=) c.3358G= (p.Ala1120=) c.3502G= (p.Ala1168=) c.3499G= (p.Ala1167=) c.3361G= (p.Ala1121=) c.3034G= (p.Ala1012=) c.3031G= (p.Ala1011=) c.3130G= (p.Ala1044=) c.*3058G= (n.*3058G=) c.2106+182699G= (n.2106+182699G=) n.121G= | |
| 3 | g.184327406G>T | CA355415320 | EIF2B5,EIF4G1 | c.3619G>T (p.Ala1207Ser) c.3553G>T (p.Ala1185Ser) c.2966G>T (n.2966G>T) c.3022G>T (p.Ala1008Ser) c.3622G>T (p.Ala1208Ser) c.3127G>T (p.Ala1043Ser) c.3640G>T (p.Ala1214Ser) c.3358G>T (p.Ala1120Ser) c.3502G>T (p.Ala1168Ser) c.3499G>T (p.Ala1167Ser) c.3361G>T (p.Ala1121Ser) c.3034G>T (p.Ala1012Ser) c.3031G>T (p.Ala1011Ser) c.3130G>T (p.Ala1044Ser) c.*3058G>T (n.*3058G>T) c.2106+182699G>T (n.2106+182699G>T) n.121G>T | |
| 3 | g.184327407C>A | CA355415323 | EIF2B5,EIF4G1 | c.3620C>A (p.Ala1207Glu) c.3554C>A (p.Ala1185Glu) c.2967C>A (n.2967C>A) c.3023C>A (p.Ala1008Glu) c.3623C>A (p.Ala1208Glu) c.3128C>A (p.Ala1043Glu) c.3641C>A (p.Ala1214Glu) c.3359C>A (p.Ala1120Glu) c.3503C>A (p.Ala1168Glu) c.3500C>A (p.Ala1167Glu) c.3362C>A (p.Ala1121Glu) c.3035C>A (p.Ala1012Glu) c.3032C>A (p.Ala1011Glu) c.3131C>A (p.Ala1044Glu) c.*3059C>A (n.*3059C>A) c.2106+182700C>A (n.2106+182700C>A) n.122C>A | |
| 3 | g.184327407C>G | CA355415325 | EIF2B5,EIF4G1 | c.3620C>G (p.Ala1207Gly) c.3554C>G (p.Ala1185Gly) c.2967C>G (n.2967C>G) c.3023C>G (p.Ala1008Gly) c.3623C>G (p.Ala1208Gly) c.3128C>G (p.Ala1043Gly) c.3641C>G (p.Ala1214Gly) c.3359C>G (p.Ala1120Gly) c.3503C>G (p.Ala1168Gly) c.3500C>G (p.Ala1167Gly) c.3362C>G (p.Ala1121Gly) c.3035C>G (p.Ala1012Gly) c.3032C>G (p.Ala1011Gly) c.3131C>G (p.Ala1044Gly) c.*3059C>G (n.*3059C>G) c.2106+182700C>G (n.2106+182700C>G) n.122C>G | |
| 3 | g.184327407C>T | CA355415327 | EIF2B5,EIF4G1 | c.3620C>T (p.Ala1207Val) c.3554C>T (p.Ala1185Val) c.2967C>T (n.2967C>T) c.3023C>T (p.Ala1008Val) c.3623C>T (p.Ala1208Val) c.3128C>T (p.Ala1043Val) c.3641C>T (p.Ala1214Val) c.3359C>T (p.Ala1120Val) c.3503C>T (p.Ala1168Val) c.3500C>T (p.Ala1167Val) c.3362C>T (p.Ala1121Val) c.3035C>T (p.Ala1012Val) c.3032C>T (p.Ala1011Val) c.3131C>T (p.Ala1044Val) c.*3059C>T (n.*3059C>T) c.2106+182700C>T (n.2106+182700C>T) n.122C>T | |
| 3 | g.184327408A>C | CA437330639 | EIF2B5,EIF4G1 | c.3621A>C (p.Ala1207=) c.3555A>C (p.Ala1185=) c.2968A>C (n.2968A>C) c.3024A>C (p.Ala1008=) c.3624A>C (p.Ala1208=) c.3129A>C (p.Ala1043=) c.3642A>C (p.Ala1214=) c.3360A>C (p.Ala1120=) c.3504A>C (p.Ala1168=) c.3501A>C (p.Ala1167=) c.3363A>C (p.Ala1121=) c.3036A>C (p.Ala1012=) c.3033A>C (p.Ala1011=) c.3132A>C (p.Ala1044=) c.*3060A>C (n.*3060A>C) c.2106+182701A>C (n.2106+182701A>C) n.123A>C | |
| 3 | g.184327408A>G | CA437330640 | EIF2B5,EIF4G1 | c.3621A>G (p.Ala1207=) c.3555A>G (p.Ala1185=) c.2968A>G (n.2968A>G) c.3024A>G (p.Ala1008=) c.3624A>G (p.Ala1208=) c.3129A>G (p.Ala1043=) c.3642A>G (p.Ala1214=) c.3360A>G (p.Ala1120=) c.3504A>G (p.Ala1168=) c.3501A>G (p.Ala1167=) c.3363A>G (p.Ala1121=) c.3036A>G (p.Ala1012=) c.3033A>G (p.Ala1011=) c.3132A>G (p.Ala1044=) c.*3060A>G (n.*3060A>G) c.2106+182701A>G (n.2106+182701A>G) n.123A>G | |
| 3 | g.184327408A>T | CA437330641 | EIF2B5,EIF4G1 | c.3621A>T (p.Ala1207=) c.3555A>T (p.Ala1185=) c.2968A>T (n.2968A>T) c.3024A>T (p.Ala1008=) c.3624A>T (p.Ala1208=) c.3129A>T (p.Ala1043=) c.3642A>T (p.Ala1214=) c.3360A>T (p.Ala1120=) c.3504A>T (p.Ala1168=) c.3501A>T (p.Ala1167=) c.3363A>T (p.Ala1121=) c.3036A>T (p.Ala1012=) c.3033A>T (p.Ala1011=) c.3132A>T (p.Ala1044=) c.*3060A>T (n.*3060A>T) c.2106+182701A>T (n.2106+182701A>T) n.123A>T | |
| 3 | g.184327409G>A | CA355415331 | EIF2B5,EIF4G1 | c.3622G>A (p.Ala1208Thr) c.3556G>A (p.Ala1186Thr) c.2969G>A (n.2969G>A) c.3025G>A (p.Ala1009Thr) c.3625G>A (p.Ala1209Thr) c.3130G>A (p.Ala1044Thr) c.3643G>A (p.Ala1215Thr) c.3361G>A (p.Ala1121Thr) c.3505G>A (p.Ala1169Thr) c.3502G>A (p.Ala1168Thr) c.3364G>A (p.Ala1122Thr) c.3037G>A (p.Ala1013Thr) c.3034G>A (p.Ala1012Thr) c.3133G>A (p.Ala1045Thr) c.*3061G>A (n.*3061G>A) c.2106+182702G>A (n.2106+182702G>A) n.124G>A | |
| 3 | g.184327409G>C | CA355415333 | EIF2B5,EIF4G1 | c.3622G>C (p.Ala1208Pro) c.3556G>C (p.Ala1186Pro) c.2969G>C (n.2969G>C) c.3025G>C (p.Ala1009Pro) c.3625G>C (p.Ala1209Pro) c.3130G>C (p.Ala1044Pro) c.3643G>C (p.Ala1215Pro) c.3361G>C (p.Ala1121Pro) c.3505G>C (p.Ala1169Pro) c.3502G>C (p.Ala1168Pro) c.3364G>C (p.Ala1122Pro) c.3037G>C (p.Ala1013Pro) c.3034G>C (p.Ala1012Pro) c.3133G>C (p.Ala1045Pro) c.*3061G>C (n.*3061G>C) c.2106+182702G>C (n.2106+182702G>C) n.124G>C | |
| 3 | g.184327409G>T | CA355415336 | EIF2B5,EIF4G1 | c.3622G>T (p.Ala1208Ser) c.3556G>T (p.Ala1186Ser) c.2969G>T (n.2969G>T) c.3025G>T (p.Ala1009Ser) c.3625G>T (p.Ala1209Ser) c.3130G>T (p.Ala1044Ser) c.3643G>T (p.Ala1215Ser) c.3361G>T (p.Ala1121Ser) c.3505G>T (p.Ala1169Ser) c.3502G>T (p.Ala1168Ser) c.3364G>T (p.Ala1122Ser) c.3037G>T (p.Ala1013Ser) c.3034G>T (p.Ala1012Ser) c.3133G>T (p.Ala1045Ser) c.*3061G>T (n.*3061G>T) c.2106+182702G>T (n.2106+182702G>T) n.124G>T | |
| 3 | g.184327410C>A | CA355415339 | EIF2B5,EIF4G1 | c.3623C>A (p.Ala1208Asp) c.3557C>A (p.Ala1186Asp) c.2970C>A (n.2970C>A) c.3026C>A (p.Ala1009Asp) c.3626C>A (p.Ala1209Asp) c.3131C>A (p.Ala1044Asp) c.3644C>A (p.Ala1215Asp) c.3362C>A (p.Ala1121Asp) c.3506C>A (p.Ala1169Asp) c.3503C>A (p.Ala1168Asp) c.3365C>A (p.Ala1122Asp) c.3038C>A (p.Ala1013Asp) c.3035C>A (p.Ala1012Asp) c.3134C>A (p.Ala1045Asp) c.*3062C>A (n.*3062C>A) c.2106+182703C>A (n.2106+182703C>A) n.125C>A | |
| 3 | g.184327410C>G | CA355415341 | EIF2B5,EIF4G1 | c.3623C>G (p.Ala1208Gly) c.3557C>G (p.Ala1186Gly) c.2970C>G (n.2970C>G) c.3026C>G (p.Ala1009Gly) c.3626C>G (p.Ala1209Gly) c.3131C>G (p.Ala1044Gly) c.3644C>G (p.Ala1215Gly) c.3362C>G (p.Ala1121Gly) c.3506C>G (p.Ala1169Gly) c.3503C>G (p.Ala1168Gly) c.3365C>G (p.Ala1122Gly) c.3038C>G (p.Ala1013Gly) c.3035C>G (p.Ala1012Gly) c.3134C>G (p.Ala1045Gly) c.*3062C>G (n.*3062C>G) c.2106+182703C>G (n.2106+182703C>G) n.125C>G | |
| 3 | g.184327410C>T | CA355415344 | EIF2B5,EIF4G1 | c.3623C>T (p.Ala1208Val) c.3557C>T (p.Ala1186Val) c.2970C>T (n.2970C>T) c.3026C>T (p.Ala1009Val) c.3626C>T (p.Ala1209Val) c.3131C>T (p.Ala1044Val) c.3644C>T (p.Ala1215Val) c.3362C>T (p.Ala1121Val) c.3506C>T (p.Ala1169Val) c.3503C>T (p.Ala1168Val) c.3365C>T (p.Ala1122Val) c.3038C>T (p.Ala1013Val) c.3035C>T (p.Ala1012Val) c.3134C>T (p.Ala1045Val) c.*3062C>T (n.*3062C>T) c.2106+182703C>T (n.2106+182703C>T) n.125C>T | |
| 3 | g.184327411T>A | CA437330643 | EIF2B5,EIF4G1 | c.3624T>A (p.Ala1208=) c.3558T>A (p.Ala1186=) c.2971T>A (n.2971T>A) c.3027T>A (p.Ala1009=) c.3627T>A (p.Ala1209=) c.3132T>A (p.Ala1044=) c.3645T>A (p.Ala1215=) c.3363T>A (p.Ala1121=) c.3507T>A (p.Ala1169=) c.3504T>A (p.Ala1168=) c.3366T>A (p.Ala1122=) c.3039T>A (p.Ala1013=) c.3036T>A (p.Ala1012=) c.3135T>A (p.Ala1045=) c.*3063T>A (n.*3063T>A) c.2106+182704T>A (n.2106+182704T>A) n.126T>A | |
| 3 | g.184327411T>C | CA437330644 | EIF2B5,EIF4G1 | c.3624T>C (p.Ala1208=) c.3558T>C (p.Ala1186=) c.2971T>C (n.2971T>C) c.3027T>C (p.Ala1009=) c.3627T>C (p.Ala1209=) c.3132T>C (p.Ala1044=) c.3645T>C (p.Ala1215=) c.3363T>C (p.Ala1121=) c.3507T>C (p.Ala1169=) c.3504T>C (p.Ala1168=) c.3366T>C (p.Ala1122=) c.3039T>C (p.Ala1013=) c.3036T>C (p.Ala1012=) c.3135T>C (p.Ala1045=) c.*3063T>C (n.*3063T>C) c.2106+182704T>C (n.2106+182704T>C) n.126T>C | dbSNP gnomAD v4 |
| 3 | g.184327411T>G | CA437330645 | EIF2B5,EIF4G1 | c.3624T>G (p.Ala1208=) c.3558T>G (p.Ala1186=) c.2971T>G (n.2971T>G) c.3027T>G (p.Ala1009=) c.3627T>G (p.Ala1209=) c.3132T>G (p.Ala1044=) c.3645T>G (p.Ala1215=) c.3363T>G (p.Ala1121=) c.3507T>G (p.Ala1169=) c.3504T>G (p.Ala1168=) c.3366T>G (p.Ala1122=) c.3039T>G (p.Ala1013=) c.3036T>G (p.Ala1012=) c.3135T>G (p.Ala1045=) c.*3063T>G (n.*3063T>G) c.2106+182704T>G (n.2106+182704T>G) n.126T>G | |
| 3 | g.184327411T= | CA1425958418 | EIF2B5,EIF4G1 | c.3624T= (p.Ala1208=) c.3558T= (p.Ala1186=) c.2971T= (n.2971T=) c.3027T= (p.Ala1009=) c.3627T= (p.Ala1209=) c.3132T= (p.Ala1044=) c.3645T= (p.Ala1215=) c.3363T= (p.Ala1121=) c.3507T= (p.Ala1169=) c.3504T= (p.Ala1168=) c.3366T= (p.Ala1122=) c.3039T= (p.Ala1013=) c.3036T= (p.Ala1012=) c.3135T= (p.Ala1045=) c.*3063T= (n.*3063T=) c.2106+182704T= (n.2106+182704T=) n.126T= | |
| 3 | g.184327412A= | CA1425958424 | EIF2B5,EIF4G1 | c.3625A= (p.Ser1209=) c.3559A= (p.Ser1187=) c.2972A= (n.2972A=) c.3028A= (p.Ser1010=) c.3628A= (p.Ser1210=) c.3133A= (p.Ser1045=) c.3646A= (p.Ser1216=) c.3364A= (p.Ser1122=) c.3508A= (p.Ser1170=) c.3505A= (p.Ser1169=) c.3367A= (p.Ser1123=) c.3040A= (p.Ser1014=) c.3037A= (p.Ser1013=) c.3136A= (p.Ser1046=) c.*3064A= (n.*3064A=) c.2106+182705A= (n.2106+182705A=) n.127A= | |
| 3 | g.184327412A>C | CA355415347 | EIF2B5,EIF4G1 | c.3625A>C (p.Ser1209Arg) c.3559A>C (p.Ser1187Arg) c.2972A>C (n.2972A>C) c.3028A>C (p.Ser1010Arg) c.3628A>C (p.Ser1210Arg) c.3133A>C (p.Ser1045Arg) c.3646A>C (p.Ser1216Arg) c.3364A>C (p.Ser1122Arg) c.3508A>C (p.Ser1170Arg) c.3505A>C (p.Ser1169Arg) c.3367A>C (p.Ser1123Arg) c.3040A>C (p.Ser1014Arg) c.3037A>C (p.Ser1013Arg) c.3136A>C (p.Ser1046Arg) c.*3064A>C (n.*3064A>C) c.2106+182705A>C (n.2106+182705A>C) n.127A>C | |
| 3 | g.184327412A>G | CA355415351 | EIF2B5,EIF4G1 | c.3625A>G (p.Ser1209Gly) c.3559A>G (p.Ser1187Gly) c.2972A>G (n.2972A>G) c.3028A>G (p.Ser1010Gly) c.3628A>G (p.Ser1210Gly) c.3133A>G (p.Ser1045Gly) c.3646A>G (p.Ser1216Gly) c.3364A>G (p.Ser1122Gly) c.3508A>G (p.Ser1170Gly) c.3505A>G (p.Ser1169Gly) c.3367A>G (p.Ser1123Gly) c.3040A>G (p.Ser1014Gly) c.3037A>G (p.Ser1013Gly) c.3136A>G (p.Ser1046Gly) c.*3064A>G (n.*3064A>G) c.2106+182705A>G (n.2106+182705A>G) n.127A>G | dbSNP |
| 3 | g.184327412A>T | CA355415349 | EIF2B5,EIF4G1 | c.3625A>T (p.Ser1209Cys) c.3559A>T (p.Ser1187Cys) c.2972A>T (n.2972A>T) c.3028A>T (p.Ser1010Cys) c.3628A>T (p.Ser1210Cys) c.3133A>T (p.Ser1045Cys) c.3646A>T (p.Ser1216Cys) c.3364A>T (p.Ser1122Cys) c.3508A>T (p.Ser1170Cys) c.3505A>T (p.Ser1169Cys) c.3367A>T (p.Ser1123Cys) c.3040A>T (p.Ser1014Cys) c.3037A>T (p.Ser1013Cys) c.3136A>T (p.Ser1046Cys) c.*3064A>T (n.*3064A>T) c.2106+182705A>T (n.2106+182705A>T) n.127A>T | |
| 3 | g.184327413G>A | CA355415354 | EIF2B5,EIF4G1 | c.3626G>A (p.Ser1209Asn) c.3560G>A (p.Ser1187Asn) c.2973G>A (n.2973G>A) c.3029G>A (p.Ser1010Asn) c.3629G>A (p.Ser1210Asn) c.3134G>A (p.Ser1045Asn) c.3647G>A (p.Ser1216Asn) c.3365G>A (p.Ser1122Asn) c.3509G>A (p.Ser1170Asn) c.3506G>A (p.Ser1169Asn) c.3368G>A (p.Ser1123Asn) c.3041G>A (p.Ser1014Asn) c.3038G>A (p.Ser1013Asn) c.3137G>A (p.Ser1046Asn) c.*3065G>A (n.*3065G>A) c.2106+182706G>A (n.2106+182706G>A) n.128G>A | |
| 3 | g.184327413G>C | CA355415356 | EIF2B5,EIF4G1 | c.3626G>C (p.Ser1209Thr) c.3560G>C (p.Ser1187Thr) c.2973G>C (n.2973G>C) c.3029G>C (p.Ser1010Thr) c.3629G>C (p.Ser1210Thr) c.3134G>C (p.Ser1045Thr) c.3647G>C (p.Ser1216Thr) c.3365G>C (p.Ser1122Thr) c.3509G>C (p.Ser1170Thr) c.3506G>C (p.Ser1169Thr) c.3368G>C (p.Ser1123Thr) c.3041G>C (p.Ser1014Thr) c.3038G>C (p.Ser1013Thr) c.3137G>C (p.Ser1046Thr) c.*3065G>C (n.*3065G>C) c.2106+182706G>C (n.2106+182706G>C) n.128G>C | COSMIC |
| 3 | g.184327413G>T | CA355415358 | EIF2B5,EIF4G1 | c.3626G>T (p.Ser1209Ile) c.3560G>T (p.Ser1187Ile) c.2973G>T (n.2973G>T) c.3029G>T (p.Ser1010Ile) c.3629G>T (p.Ser1210Ile) c.3134G>T (p.Ser1045Ile) c.3647G>T (p.Ser1216Ile) c.3365G>T (p.Ser1122Ile) c.3509G>T (p.Ser1170Ile) c.3506G>T (p.Ser1169Ile) c.3368G>T (p.Ser1123Ile) c.3041G>T (p.Ser1014Ile) c.3038G>T (p.Ser1013Ile) c.3137G>T (p.Ser1046Ile) c.*3065G>T (n.*3065G>T) c.2106+182706G>T (n.2106+182706G>T) n.128G>T | |
| 3 | g.184327414C>A | CA355415361 | EIF2B5,EIF4G1 | c.3627C>A (p.Ser1209Arg) c.3561C>A (p.Ser1187Arg) c.2974C>A (n.2974C>A) c.3030C>A (p.Ser1010Arg) c.3630C>A (p.Ser1210Arg) c.3135C>A (p.Ser1045Arg) c.3648C>A (p.Ser1216Arg) c.3366C>A (p.Ser1122Arg) c.3510C>A (p.Ser1170Arg) c.3507C>A (p.Ser1169Arg) c.3369C>A (p.Ser1123Arg) c.3042C>A (p.Ser1014Arg) c.3039C>A (p.Ser1013Arg) c.3138C>A (p.Ser1046Arg) c.*3066C>A (n.*3066C>A) c.2106+182707C>A (n.2106+182707C>A) n.129C>A | |
| 3 | g.184327414C>G | CA355415362 | EIF2B5,EIF4G1 | c.3627C>G (p.Ser1209Arg) c.3561C>G (p.Ser1187Arg) c.2974C>G (n.2974C>G) c.3030C>G (p.Ser1010Arg) c.3630C>G (p.Ser1210Arg) c.3135C>G (p.Ser1045Arg) c.3648C>G (p.Ser1216Arg) c.3366C>G (p.Ser1122Arg) c.3510C>G (p.Ser1170Arg) c.3507C>G (p.Ser1169Arg) c.3369C>G (p.Ser1123Arg) c.3042C>G (p.Ser1014Arg) c.3039C>G (p.Ser1013Arg) c.3138C>G (p.Ser1046Arg) c.*3066C>G (n.*3066C>G) c.2106+182707C>G (n.2106+182707C>G) n.129C>G | |
| 3 | g.184327414C>T | CA437330654 | EIF2B5,EIF4G1 | c.3627C>T (p.Ser1209=) c.3561C>T (p.Ser1187=) c.2974C>T (n.2974C>T) c.3030C>T (p.Ser1010=) c.3630C>T (p.Ser1210=) c.3135C>T (p.Ser1045=) c.3648C>T (p.Ser1216=) c.3366C>T (p.Ser1122=) c.3510C>T (p.Ser1170=) c.3507C>T (p.Ser1169=) c.3369C>T (p.Ser1123=) c.3042C>T (p.Ser1014=) c.3039C>T (p.Ser1013=) c.3138C>T (p.Ser1046=) c.*3066C>T (n.*3066C>T) c.2106+182707C>T (n.2106+182707C>T) n.129C>T | |
| 3 | g.184327415C>A | CA355415365 | EIF2B5,EIF4G1 | c.3628C>A (p.Leu1210Ile) c.3562C>A (p.Leu1188Ile) c.2975C>A (n.2975C>A) c.3031C>A (p.Leu1011Ile) c.3631C>A (p.Leu1211Ile) c.3136C>A (p.Leu1046Ile) c.3649C>A (p.Leu1217Ile) c.3367C>A (p.Leu1123Ile) c.3511C>A (p.Leu1171Ile) c.3508C>A (p.Leu1170Ile) c.3370C>A (p.Leu1124Ile) c.3043C>A (p.Leu1015Ile) c.3040C>A (p.Leu1014Ile) c.3139C>A (p.Leu1047Ile) c.*3067C>A (n.*3067C>A) c.2106+182708C>A (n.2106+182708C>A) n.130C>A |