Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.144389649C>A | CA429441132 | ZEB2 | c.*3296G>T (n.*3296G>T) c.2670G>T (p.Gly890=) c.3447G>T (p.Gly1149=) c.3335G>T (p.Gly1112Val) n.3416G>T c.3111G>T (p.Gly1037=) c.3522G>T (p.Gly1174=) c.*3164G>T (n.*3164G>T) n.3547G>T c.151+6763G>T (n.151+6763G>T) c.667G>T (n.667G>T) c.978G>T (p.Gly326=) c.3444G>T (p.Gly1148=) c.656-767G>T (n.656-767G>T) c.3375G>T (p.Gly1125=) c.3438G>T (p.Gly1146=) c.3426G>T (p.Gly1142=) | |
2 | g.144389649C>G | CA429441133 | ZEB2 | c.*3296G>C (n.*3296G>C) c.2670G>C (p.Gly890=) c.3447G>C (p.Gly1149=) c.3335G>C (p.Gly1112Ala) n.3416G>C c.3111G>C (p.Gly1037=) c.3522G>C (p.Gly1174=) c.*3164G>C (n.*3164G>C) n.3547G>C c.151+6763G>C (n.151+6763G>C) c.667G>C (n.667G>C) c.978G>C (p.Gly326=) c.3444G>C (p.Gly1148=) c.656-767G>C (n.656-767G>C) c.3375G>C (p.Gly1125=) c.3438G>C (p.Gly1146=) c.3426G>C (p.Gly1142=) | |
2 | g.144389649C>T | CA429441134 | ZEB2 | c.*3296G>A (n.*3296G>A) c.2670G>A (p.Gly890=) c.3447G>A (p.Gly1149=) c.3335G>A (p.Gly1112Glu) n.3416G>A c.3111G>A (p.Gly1037=) c.3522G>A (p.Gly1174=) c.*3164G>A (n.*3164G>A) n.3547G>A c.151+6763G>A (n.151+6763G>A) c.667G>A (n.667G>A) c.978G>A (p.Gly326=) c.3444G>A (p.Gly1148=) c.656-767G>A (n.656-767G>A) c.3375G>A (p.Gly1125=) c.3438G>A (p.Gly1146=) c.3426G>A (p.Gly1142=) | gnomAD v3 gnomAD v4 |
2 | g.144389650C>A | CA348699282 | ZEB2 | c.*3295G>T (n.*3295G>T) c.2669G>T (p.Gly890Val) c.3446G>T (p.Gly1149Val) c.3334G>T (p.Gly1112Ter) n.3415G>T c.3110G>T (p.Gly1037Val) c.3521G>T (p.Gly1174Val) c.*3163G>T (n.*3163G>T) n.3546G>T c.151+6762G>T (n.151+6762G>T) c.666G>T (n.666G>T) c.977G>T (p.Gly326Val) c.3443G>T (p.Gly1148Val) c.656-768G>T (n.656-768G>T) c.3374G>T (p.Gly1125Val) c.3437G>T (p.Gly1146Val) c.3425G>T (p.Gly1142Val) | |
2 | g.144389650C>G | CA348699283 | ZEB2 | c.*3295G>C (n.*3295G>C) c.2669G>C (p.Gly890Ala) c.3446G>C (p.Gly1149Ala) c.3334G>C (p.Gly1112Arg) n.3415G>C c.3110G>C (p.Gly1037Ala) c.3521G>C (p.Gly1174Ala) c.*3163G>C (n.*3163G>C) n.3546G>C c.151+6762G>C (n.151+6762G>C) c.666G>C (n.666G>C) c.977G>C (p.Gly326Ala) c.3443G>C (p.Gly1148Ala) c.656-768G>C (n.656-768G>C) c.3374G>C (p.Gly1125Ala) c.3437G>C (p.Gly1146Ala) c.3425G>C (p.Gly1142Ala) | |
2 | g.144389650C>T | CA348699284 | ZEB2 | c.*3295G>A (n.*3295G>A) c.2669G>A (p.Gly890Glu) c.3446G>A (p.Gly1149Glu) c.3334G>A (p.Gly1112Arg) n.3415G>A c.3110G>A (p.Gly1037Glu) c.3521G>A (p.Gly1174Glu) c.*3163G>A (n.*3163G>A) n.3546G>A c.151+6762G>A (n.151+6762G>A) c.666G>A (n.666G>A) c.977G>A (p.Gly326Glu) c.3443G>A (p.Gly1148Glu) c.656-768G>A (n.656-768G>A) c.3374G>A (p.Gly1125Glu) c.3437G>A (p.Gly1146Glu) c.3425G>A (p.Gly1142Glu) | |
2 | g.144389651C>A | CA348699286 | ZEB2 | c.*3294G>T (n.*3294G>T) c.2668G>T (p.Gly890Trp) c.3445G>T (p.Gly1149Trp) c.3333G>T (p.Thr1111=) n.3414G>T c.3109G>T (p.Gly1037Trp) c.3520G>T (p.Gly1174Trp) c.*3162G>T (n.*3162G>T) n.3545G>T c.151+6761G>T (n.151+6761G>T) c.665G>T (n.665G>T) c.976G>T (p.Gly326Trp) c.3442G>T (p.Gly1148Trp) c.656-769G>T (n.656-769G>T) c.3373G>T (p.Gly1125Trp) c.3436G>T (p.Gly1146Trp) c.3424G>T (p.Gly1142Trp) | |
2 | g.144389651C= | CA1294881283 | ZEB2 | c.*3294G= (n.*3294G=) c.2668G= (p.Gly890=) c.3445G= (p.Gly1149=) c.3333G= (p.Thr1111=) n.3414G= c.3109G= (p.Gly1037=) c.3520G= (p.Gly1174=) c.*3162G= (n.*3162G=) n.3545G= c.151+6761G= (n.151+6761G=) c.665G= (n.665G=) c.976G= (p.Gly326=) c.3442G= (p.Gly1148=) c.656-769G= (n.656-769G=) c.3373G= (p.Gly1125=) c.3436G= (p.Gly1146=) c.3424G= (p.Gly1142=) | |
2 | g.144389651C>G | CA348699285 | ZEB2 | c.*3294G>C (n.*3294G>C) c.2668G>C (p.Gly890Arg) c.3445G>C (p.Gly1149Arg) c.3333G>C (p.Thr1111=) n.3414G>C c.3109G>C (p.Gly1037Arg) c.3520G>C (p.Gly1174Arg) c.*3162G>C (n.*3162G>C) n.3545G>C c.151+6761G>C (n.151+6761G>C) c.665G>C (n.665G>C) c.976G>C (p.Gly326Arg) c.3442G>C (p.Gly1148Arg) c.656-769G>C (n.656-769G>C) c.3373G>C (p.Gly1125Arg) c.3436G>C (p.Gly1146Arg) c.3424G>C (p.Gly1142Arg) | |
2 | g.144389651C>T | CA1898115 | ZEB2 | c.*3294G>A (n.*3294G>A) c.2668G>A (p.Gly890Arg) c.3445G>A (p.Gly1149Arg) c.3333G>A (p.Thr1111=) n.3414G>A c.3109G>A (p.Gly1037Arg) c.3520G>A (p.Gly1174Arg) c.*3162G>A (n.*3162G>A) n.3545G>A c.151+6761G>A (n.151+6761G>A) c.665G>A (n.665G>A) c.976G>A (p.Gly326Arg) c.3442G>A (p.Gly1148Arg) c.656-769G>A (n.656-769G>A) c.3373G>A (p.Gly1125Arg) c.3436G>A (p.Gly1146Arg) c.3424G>A (p.Gly1142Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.144389652G>A | CA272829 | ZEB2 | c.*3293C>T (n.*3293C>T) c.2667C>T (p.Tyr889=) c.3444C>T (p.Tyr1148=) c.3332C>T (p.Thr1111Met) n.3413C>T c.3108C>T (p.Tyr1036=) c.3519C>T (p.Tyr1173=) c.*3161C>T (n.*3161C>T) n.3544C>T c.151+6760C>T (n.151+6760C>T) c.664C>T (n.664C>T) c.975C>T (p.Tyr325=) c.3441C>T (p.Tyr1147=) c.656-770C>T (n.656-770C>T) c.3372C>T (p.Tyr1124=) c.3435C>T (p.Tyr1145=) c.3423C>T (p.Tyr1141=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.144389652G>C | CA348699288 | ZEB2 | c.*3293C>G (n.*3293C>G) c.2667C>G (p.Tyr889Ter) c.3444C>G (p.Tyr1148Ter) c.3332C>G (p.Thr1111Arg) n.3413C>G c.3108C>G (p.Tyr1036Ter) c.3519C>G (p.Tyr1173Ter) c.*3161C>G (n.*3161C>G) n.3544C>G c.151+6760C>G (n.151+6760C>G) c.664C>G (n.664C>G) c.975C>G (p.Tyr325Ter) c.3441C>G (p.Tyr1147Ter) c.656-770C>G (n.656-770C>G) c.3372C>G (p.Tyr1124Ter) c.3435C>G (p.Tyr1145Ter) c.3423C>G (p.Tyr1141Ter) | |
2 | g.144389652G= | CA1294881284 | ZEB2 | c.*3293C= (n.*3293C=) c.2667C= (p.Tyr889=) c.3444C= (p.Tyr1148=) c.3332C= (p.Thr1111=) n.3413C= c.3108C= (p.Tyr1036=) c.3519C= (p.Tyr1173=) c.*3161C= (n.*3161C=) n.3544C= c.151+6760C= (n.151+6760C=) c.664C= (n.664C=) c.975C= (p.Tyr325=) c.3441C= (p.Tyr1147=) c.656-770C= (n.656-770C=) c.3372C= (p.Tyr1124=) c.3435C= (p.Tyr1145=) c.3423C= (p.Tyr1141=) | |
2 | g.144389652G>T | CA348699287 | ZEB2 | c.*3293C>A (n.*3293C>A) c.2667C>A (p.Tyr889Ter) c.3444C>A (p.Tyr1148Ter) c.3332C>A (p.Thr1111Lys) n.3413C>A c.3108C>A (p.Tyr1036Ter) c.3519C>A (p.Tyr1173Ter) c.*3161C>A (n.*3161C>A) n.3544C>A c.151+6760C>A (n.151+6760C>A) c.664C>A (n.664C>A) c.975C>A (p.Tyr325Ter) c.3441C>A (p.Tyr1147Ter) c.656-770C>A (n.656-770C>A) c.3372C>A (p.Tyr1124Ter) c.3435C>A (p.Tyr1145Ter) c.3423C>A (p.Tyr1141Ter) | |
2 | g.144389653T>A | CA348699289 | ZEB2 | c.*3292A>T (n.*3292A>T) c.2666A>T (p.Tyr889Phe) c.3443A>T (p.Tyr1148Phe) c.3331A>T (p.Thr1111Ser) n.3412A>T c.3107A>T (p.Tyr1036Phe) c.3518A>T (p.Tyr1173Phe) c.*3160A>T (n.*3160A>T) n.3543A>T c.151+6759A>T (n.151+6759A>T) c.663A>T (n.663A>T) c.974A>T (p.Tyr325Phe) c.3440A>T (p.Tyr1147Phe) c.656-771A>T (n.656-771A>T) c.3371A>T (p.Tyr1124Phe) c.3434A>T (p.Tyr1145Phe) c.3422A>T (p.Tyr1141Phe) | |
2 | g.144389653T>C | CA348699291 | ZEB2 | c.*3292A>G (n.*3292A>G) c.2666A>G (p.Tyr889Cys) c.3443A>G (p.Tyr1148Cys) c.3331A>G (p.Thr1111Ala) n.3412A>G c.3107A>G (p.Tyr1036Cys) c.3518A>G (p.Tyr1173Cys) c.*3160A>G (n.*3160A>G) n.3543A>G c.151+6759A>G (n.151+6759A>G) c.663A>G (n.663A>G) c.974A>G (p.Tyr325Cys) c.3440A>G (p.Tyr1147Cys) c.656-771A>G (n.656-771A>G) c.3371A>G (p.Tyr1124Cys) c.3434A>G (p.Tyr1145Cys) c.3422A>G (p.Tyr1141Cys) | gnomAD v4 |
2 | g.144389653T>G | CA348699290 | ZEB2 | c.*3292A>C (n.*3292A>C) c.2666A>C (p.Tyr889Ser) c.3443A>C (p.Tyr1148Ser) c.3331A>C (p.Thr1111Pro) n.3412A>C c.3107A>C (p.Tyr1036Ser) c.3518A>C (p.Tyr1173Ser) c.*3160A>C (n.*3160A>C) n.3543A>C c.151+6759A>C (n.151+6759A>C) c.663A>C (n.663A>C) c.974A>C (p.Tyr325Ser) c.3440A>C (p.Tyr1147Ser) c.656-771A>C (n.656-771A>C) c.3371A>C (p.Tyr1124Ser) c.3434A>C (p.Tyr1145Ser) c.3422A>C (p.Tyr1141Ser) | |
2 | g.144389654A= | CA1294881285 | ZEB2 | c.*3291T= (n.*3291T=) c.2665T= (p.Tyr889=) c.3442T= (p.Tyr1148=) c.3330T= (p.Ala1110=) n.3411T= c.3106T= (p.Tyr1036=) c.3517T= (p.Tyr1173=) c.*3159T= (n.*3159T=) n.3542T= c.151+6758T= (n.151+6758T=) c.662T= (n.662T=) c.973T= (p.Tyr325=) c.3439T= (p.Tyr1147=) c.656-772T= (n.656-772T=) c.3370T= (p.Tyr1124=) c.3433T= (p.Tyr1145=) c.3421T= (p.Tyr1141=) | |
2 | g.144389654A>C | CA348699292 | ZEB2 | c.*3291T>G (n.*3291T>G) c.2665T>G (p.Tyr889Asp) c.3442T>G (p.Tyr1148Asp) c.3330T>G (p.Ala1110=) n.3411T>G c.3106T>G (p.Tyr1036Asp) c.3517T>G (p.Tyr1173Asp) c.*3159T>G (n.*3159T>G) n.3542T>G c.151+6758T>G (n.151+6758T>G) c.662T>G (n.662T>G) c.973T>G (p.Tyr325Asp) c.3439T>G (p.Tyr1147Asp) c.656-772T>G (n.656-772T>G) c.3370T>G (p.Tyr1124Asp) c.3433T>G (p.Tyr1145Asp) c.3421T>G (p.Tyr1141Asp) | |
2 | g.144389654A>G | CA1898116 | ZEB2 | c.*3291T>C (n.*3291T>C) c.2665T>C (p.Tyr889His) c.3442T>C (p.Tyr1148His) c.3330T>C (p.Ala1110=) n.3411T>C c.3106T>C (p.Tyr1036His) c.3517T>C (p.Tyr1173His) c.*3159T>C (n.*3159T>C) n.3542T>C c.151+6758T>C (n.151+6758T>C) c.662T>C (n.662T>C) c.973T>C (p.Tyr325His) c.3439T>C (p.Tyr1147His) c.656-772T>C (n.656-772T>C) c.3370T>C (p.Tyr1124His) c.3433T>C (p.Tyr1145His) c.3421T>C (p.Tyr1141His) | dbSNP ExAC gnomAD v2 |
2 | g.144389654A>T | CA348699293 | ZEB2 | c.*3291T>A (n.*3291T>A) c.2665T>A (p.Tyr889Asn) c.3442T>A (p.Tyr1148Asn) c.3330T>A (p.Ala1110=) n.3411T>A c.3106T>A (p.Tyr1036Asn) c.3517T>A (p.Tyr1173Asn) c.*3159T>A (n.*3159T>A) n.3542T>A c.151+6758T>A (n.151+6758T>A) c.662T>A (n.662T>A) c.973T>A (p.Tyr325Asn) c.3439T>A (p.Tyr1147Asn) c.656-772T>A (n.656-772T>A) c.3370T>A (p.Tyr1124Asn) c.3433T>A (p.Tyr1145Asn) c.3421T>A (p.Tyr1141Asn) | |
2 | g.144389655G>A | CA429441136 | ZEB2 | c.*3290C>T (n.*3290C>T) c.2664C>T (p.Gly888=) c.3441C>T (p.Gly1147=) c.3329C>T (p.Ala1110Val) n.3410C>T c.3105C>T (p.Gly1035=) c.3516C>T (p.Gly1172=) c.*3158C>T (n.*3158C>T) n.3541C>T c.151+6757C>T (n.151+6757C>T) c.661C>T (n.661C>T) c.972C>T (p.Gly324=) c.3438C>T (p.Gly1146=) c.656-773C>T (n.656-773C>T) c.3369C>T (p.Gly1123=) c.3432C>T (p.Gly1144=) c.3420C>T (p.Gly1140=) | |
2 | g.144389655G>C | CA429441137 | ZEB2 | c.*3290C>G (n.*3290C>G) c.2664C>G (p.Gly888=) c.3441C>G (p.Gly1147=) c.3329C>G (p.Ala1110Gly) n.3410C>G c.3105C>G (p.Gly1035=) c.3516C>G (p.Gly1172=) c.*3158C>G (n.*3158C>G) n.3541C>G c.151+6757C>G (n.151+6757C>G) c.661C>G (n.661C>G) c.972C>G (p.Gly324=) c.3438C>G (p.Gly1146=) c.656-773C>G (n.656-773C>G) c.3369C>G (p.Gly1123=) c.3432C>G (p.Gly1144=) c.3420C>G (p.Gly1140=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.144389655G= | CA1294881286 | ZEB2 | c.*3290C= (n.*3290C=) c.2664C= (p.Gly888=) c.3441C= (p.Gly1147=) c.3329C= (p.Ala1110=) n.3410C= c.3105C= (p.Gly1035=) c.3516C= (p.Gly1172=) c.*3158C= (n.*3158C=) n.3541C= c.151+6757C= (n.151+6757C=) c.661C= (n.661C=) c.972C= (p.Gly324=) c.3438C= (p.Gly1146=) c.656-773C= (n.656-773C=) c.3369C= (p.Gly1123=) c.3432C= (p.Gly1144=) c.3420C= (p.Gly1140=) | |
2 | g.144389655G>T | CA429441135 | ZEB2 | c.*3290C>A (n.*3290C>A) c.2664C>A (p.Gly888=) c.3441C>A (p.Gly1147=) c.3329C>A (p.Ala1110Asp) n.3410C>A c.3105C>A (p.Gly1035=) c.3516C>A (p.Gly1172=) c.*3158C>A (n.*3158C>A) n.3541C>A c.151+6757C>A (n.151+6757C>A) c.661C>A (n.661C>A) c.972C>A (p.Gly324=) c.3438C>A (p.Gly1146=) c.656-773C>A (n.656-773C>A) c.3369C>A (p.Gly1123=) c.3432C>A (p.Gly1144=) c.3420C>A (p.Gly1140=) | |
2 | g.144389656C>A | CA1898117 | ZEB2 | c.*3289G>T (n.*3289G>T) c.2663G>T (p.Gly888Val) c.3440G>T (p.Gly1147Val) c.3328G>T (p.Ala1110Ser) n.3409G>T c.3104G>T (p.Gly1035Val) c.3515G>T (p.Gly1172Val) c.*3157G>T (n.*3157G>T) n.3540G>T c.151+6756G>T (n.151+6756G>T) c.660G>T (n.660G>T) c.971G>T (p.Gly324Val) c.3437G>T (p.Gly1146Val) c.656-774G>T (n.656-774G>T) c.3368G>T (p.Gly1123Val) c.3431G>T (p.Gly1144Val) c.3419G>T (p.Gly1140Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.144389656C= | CA1294881287 | ZEB2 | c.*3289G= (n.*3289G=) c.2663G= (p.Gly888=) c.3440G= (p.Gly1147=) c.3328G= (p.Ala1110=) n.3409G= c.3104G= (p.Gly1035=) c.3515G= (p.Gly1172=) c.*3157G= (n.*3157G=) n.3540G= c.151+6756G= (n.151+6756G=) c.660G= (n.660G=) c.971G= (p.Gly324=) c.3437G= (p.Gly1146=) c.656-774G= (n.656-774G=) c.3368G= (p.Gly1123=) c.3431G= (p.Gly1144=) c.3419G= (p.Gly1140=) | |
2 | g.144389656C>G | CA348699295 | ZEB2 | c.*3289G>C (n.*3289G>C) c.2663G>C (p.Gly888Ala) c.3440G>C (p.Gly1147Ala) c.3328G>C (p.Ala1110Pro) n.3409G>C c.3104G>C (p.Gly1035Ala) c.3515G>C (p.Gly1172Ala) c.*3157G>C (n.*3157G>C) n.3540G>C c.151+6756G>C (n.151+6756G>C) c.660G>C (n.660G>C) c.971G>C (p.Gly324Ala) c.3437G>C (p.Gly1146Ala) c.656-774G>C (n.656-774G>C) c.3368G>C (p.Gly1123Ala) c.3431G>C (p.Gly1144Ala) c.3419G>C (p.Gly1140Ala) | |
2 | g.144389656C>T | CA348699294 | ZEB2 | c.*3289G>A (n.*3289G>A) c.2663G>A (p.Gly888Asp) c.3440G>A (p.Gly1147Asp) c.3328G>A (p.Ala1110Thr) n.3409G>A c.3104G>A (p.Gly1035Asp) c.3515G>A (p.Gly1172Asp) c.*3157G>A (n.*3157G>A) n.3540G>A c.151+6756G>A (n.151+6756G>A) c.660G>A (n.660G>A) c.971G>A (p.Gly324Asp) c.3437G>A (p.Gly1146Asp) c.656-774G>A (n.656-774G>A) c.3368G>A (p.Gly1123Asp) c.3431G>A (p.Gly1144Asp) c.3419G>A (p.Gly1140Asp) | |
2 | g.144389657C>A | CA348699296 | ZEB2 | c.*3288G>T (n.*3288G>T) c.2662G>T (p.Gly888Cys) c.3439G>T (p.Gly1147Cys) c.3327G>T (p.Met1109Ile) n.3408G>T c.3103G>T (p.Gly1035Cys) c.3514G>T (p.Gly1172Cys) c.*3156G>T (n.*3156G>T) n.3539G>T c.151+6755G>T (n.151+6755G>T) c.659G>T (n.659G>T) c.970G>T (p.Gly324Cys) c.3436G>T (p.Gly1146Cys) c.656-775G>T (n.656-775G>T) c.3367G>T (p.Gly1123Cys) c.3430G>T (p.Gly1144Cys) c.3418G>T (p.Gly1140Cys) | |
2 | g.144389657C>G | CA348699298 | ZEB2 | c.*3288G>C (n.*3288G>C) c.2662G>C (p.Gly888Arg) c.3439G>C (p.Gly1147Arg) c.3327G>C (p.Met1109Ile) n.3408G>C c.3103G>C (p.Gly1035Arg) c.3514G>C (p.Gly1172Arg) c.*3156G>C (n.*3156G>C) n.3539G>C c.151+6755G>C (n.151+6755G>C) c.659G>C (n.659G>C) c.970G>C (p.Gly324Arg) c.3436G>C (p.Gly1146Arg) c.656-775G>C (n.656-775G>C) c.3367G>C (p.Gly1123Arg) c.3430G>C (p.Gly1144Arg) c.3418G>C (p.Gly1140Arg) | |
2 | g.144389657C>T | CA348699297 | ZEB2 | c.*3288G>A (n.*3288G>A) c.2662G>A (p.Gly888Ser) c.3439G>A (p.Gly1147Ser) c.3327G>A (p.Met1109Ile) n.3408G>A c.3103G>A (p.Gly1035Ser) c.3514G>A (p.Gly1172Ser) c.*3156G>A (n.*3156G>A) n.3539G>A c.151+6755G>A (n.151+6755G>A) c.659G>A (n.659G>A) c.970G>A (p.Gly324Ser) c.3436G>A (p.Gly1146Ser) c.656-775G>A (n.656-775G>A) c.3367G>A (p.Gly1123Ser) c.3430G>A (p.Gly1144Ser) c.3418G>A (p.Gly1140Ser) | |
2 | g.144389658_144389660dup | CA2739271217 | ZEB2 | c.*3286_*3288dup (n.*3286_*3288dup) c.2660_2662dup (p.Asp887_Gly888insAsp) c.3437_3439dup (p.Asp1146_Gly1147insAsp) c.3325_3327dup (p.Met1109_Ala1110insMet) n.3406_3408dup c.3101_3103dup (p.Asp1034_Gly1035insAsp) c.3512_3514dup (p.Asp1171_Gly1172insAsp) c.*3154_*3156dup (n.*3154_*3156dup) n.3537_3539dup c.151+6753_151+6755dup (n.151+6753_151+6755dup) c.657_659dup (n.657_659dup) c.968_970dup (p.Asp323_Gly324insAsp) c.3434_3436dup (p.Asp1145_Gly1146insAsp) c.656-777_656-775dup (n.656-777_656-775dup) c.3365_3367dup (p.Asp1122_Gly1123insAsp) c.3428_3430dup (p.Asp1143_Gly1144insAsp) c.3416_3418dup (p.Asp1139_Gly1140insAsp) | ClinVar |
2 | g.144389658A>C | CA348699299 | ZEB2 | c.*3287T>G (n.*3287T>G) c.2661T>G (p.Asp887Glu) c.3438T>G (p.Asp1146Glu) c.3326T>G (p.Met1109Arg) n.3407T>G c.3102T>G (p.Asp1034Glu) c.3513T>G (p.Asp1171Glu) c.*3155T>G (n.*3155T>G) n.3538T>G c.151+6754T>G (n.151+6754T>G) c.658T>G (n.658T>G) c.969T>G (p.Asp323Glu) c.3435T>G (p.Asp1145Glu) c.656-776T>G (n.656-776T>G) c.3366T>G (p.Asp1122Glu) c.3429T>G (p.Asp1143Glu) c.3417T>G (p.Asp1139Glu) | |
2 | g.144389658A>G | CA429441138 | ZEB2 | c.*3287T>C (n.*3287T>C) c.2661T>C (p.Asp887=) c.3438T>C (p.Asp1146=) c.3326T>C (p.Met1109Thr) n.3407T>C c.3102T>C (p.Asp1034=) c.3513T>C (p.Asp1171=) c.*3155T>C (n.*3155T>C) n.3538T>C c.151+6754T>C (n.151+6754T>C) c.658T>C (n.658T>C) c.969T>C (p.Asp323=) c.3435T>C (p.Asp1145=) c.656-776T>C (n.656-776T>C) c.3366T>C (p.Asp1122=) c.3429T>C (p.Asp1143=) c.3417T>C (p.Asp1139=) | gnomAD v4 |
2 | g.144389658A>T | CA348699300 | ZEB2 | c.*3287T>A (n.*3287T>A) c.2661T>A (p.Asp887Glu) c.3438T>A (p.Asp1146Glu) c.3326T>A (p.Met1109Lys) n.3407T>A c.3102T>A (p.Asp1034Glu) c.3513T>A (p.Asp1171Glu) c.*3155T>A (n.*3155T>A) n.3538T>A c.151+6754T>A (n.151+6754T>A) c.658T>A (n.658T>A) c.969T>A (p.Asp323Glu) c.3435T>A (p.Asp1145Glu) c.656-776T>A (n.656-776T>A) c.3366T>A (p.Asp1122Glu) c.3429T>A (p.Asp1143Glu) c.3417T>A (p.Asp1139Glu) | |
2 | g.144389659T>A | CA348699301 | ZEB2 | c.*3286A>T (n.*3286A>T) c.2660A>T (p.Asp887Val) c.3437A>T (p.Asp1146Val) c.3325A>T (p.Met1109Leu) n.3406A>T c.3101A>T (p.Asp1034Val) c.3512A>T (p.Asp1171Val) c.*3154A>T (n.*3154A>T) n.3537A>T c.151+6753A>T (n.151+6753A>T) c.657A>T (n.657A>T) c.968A>T (p.Asp323Val) c.3434A>T (p.Asp1145Val) c.656-777A>T (n.656-777A>T) c.3365A>T (p.Asp1122Val) c.3428A>T (p.Asp1143Val) c.3416A>T (p.Asp1139Val) | COSMIC |
2 | g.144389659T>C | CA348699303 | ZEB2 | c.*3286A>G (n.*3286A>G) c.2660A>G (p.Asp887Gly) c.3437A>G (p.Asp1146Gly) c.3325A>G (p.Met1109Val) n.3406A>G c.3101A>G (p.Asp1034Gly) c.3512A>G (p.Asp1171Gly) c.*3154A>G (n.*3154A>G) n.3537A>G c.151+6753A>G (n.151+6753A>G) c.657A>G (n.657A>G) c.968A>G (p.Asp323Gly) c.3434A>G (p.Asp1145Gly) c.656-777A>G (n.656-777A>G) c.3365A>G (p.Asp1122Gly) c.3428A>G (p.Asp1143Gly) c.3416A>G (p.Asp1139Gly) | |
2 | g.144389659T>G | CA348699302 | ZEB2 | c.*3286A>C (n.*3286A>C) c.2660A>C (p.Asp887Ala) c.3437A>C (p.Asp1146Ala) c.3325A>C (p.Met1109Leu) n.3406A>C c.3101A>C (p.Asp1034Ala) c.3512A>C (p.Asp1171Ala) c.*3154A>C (n.*3154A>C) n.3537A>C c.151+6753A>C (n.151+6753A>C) c.657A>C (n.657A>C) c.968A>C (p.Asp323Ala) c.3434A>C (p.Asp1145Ala) c.656-777A>C (n.656-777A>C) c.3365A>C (p.Asp1122Ala) c.3428A>C (p.Asp1143Ala) c.3416A>C (p.Asp1139Ala) | |
2 | g.144389660C>A | CA348699304 | ZEB2 | c.*3285G>T (n.*3285G>T) c.2659G>T (p.Asp887Tyr) c.3436G>T (p.Asp1146Tyr) c.3324G>T (p.Arg1108Ser) n.3405G>T c.3100G>T (p.Asp1034Tyr) c.3511G>T (p.Asp1171Tyr) c.*3153G>T (n.*3153G>T) n.3536G>T c.151+6752G>T (n.151+6752G>T) c.656G>T (n.656G>T) c.967G>T (p.Asp323Tyr) c.3433G>T (p.Asp1145Tyr) c.656-778G>T (n.656-778G>T) c.3364G>T (p.Asp1122Tyr) c.3427G>T (p.Asp1143Tyr) c.3415G>T (p.Asp1139Tyr) | dbSNP |
2 | g.144389660C= | CA1294881288 | ZEB2 | c.*3285G= (n.*3285G=) c.2659G= (p.Asp887=) c.3436G= (p.Asp1146=) c.3324G= (p.Arg1108=) n.3405G= c.3100G= (p.Asp1034=) c.3511G= (p.Asp1171=) c.*3153G= (n.*3153G=) n.3536G= c.151+6752G= (n.151+6752G=) c.656G= (n.656G=) c.967G= (p.Asp323=) c.3433G= (p.Asp1145=) c.656-778G= (n.656-778G=) c.3364G= (p.Asp1122=) c.3427G= (p.Asp1143=) c.3415G= (p.Asp1139=) | |
2 | g.144389660C>G | CA348699306 | ZEB2 | c.*3285G>C (n.*3285G>C) c.2659G>C (p.Asp887His) c.3436G>C (p.Asp1146His) c.3324G>C (p.Arg1108Ser) n.3405G>C c.3100G>C (p.Asp1034His) c.3511G>C (p.Asp1171His) c.*3153G>C (n.*3153G>C) n.3536G>C c.151+6752G>C (n.151+6752G>C) c.656G>C (n.656G>C) c.967G>C (p.Asp323His) c.3433G>C (p.Asp1145His) c.656-778G>C (n.656-778G>C) c.3364G>C (p.Asp1122His) c.3427G>C (p.Asp1143His) c.3415G>C (p.Asp1139His) | |
2 | g.144389660C>T | CA348699305 | ZEB2 | c.*3285G>A (n.*3285G>A) c.2659G>A (p.Asp887Asn) c.3436G>A (p.Asp1146Asn) c.3324G>A (p.Arg1108=) n.3405G>A c.3100G>A (p.Asp1034Asn) c.3511G>A (p.Asp1171Asn) c.*3153G>A (n.*3153G>A) n.3536G>A c.151+6752G>A (n.151+6752G>A) c.656G>A (n.656G>A) c.967G>A (p.Asp323Asn) c.3433G>A (p.Asp1145Asn) c.656-778G>A (n.656-778G>A) c.3364G>A (p.Asp1122Asn) c.3427G>A (p.Asp1143Asn) c.3415G>A (p.Asp1139Asn) | |
2 | g.144389661C>A | CA348699307 | ZEB2 | c.*3284G>T (n.*3284G>T) c.2658G>T (p.Glu886Asp) c.3435G>T (p.Glu1145Asp) c.3323G>T (p.Arg1108Met) n.3404G>T c.3099G>T (p.Glu1033Asp) c.3510G>T (p.Glu1170Asp) c.*3152G>T (n.*3152G>T) n.3535G>T c.151+6751G>T (n.151+6751G>T) c.655G>T (n.655G>T) c.966G>T (p.Glu322Asp) c.3432G>T (p.Glu1144Asp) c.656-779G>T (n.656-779G>T) c.3363G>T (p.Glu1121Asp) c.3426G>T (p.Glu1142Asp) c.3414G>T (p.Glu1138Asp) | |
2 | g.144389661C>G | CA348699308 | ZEB2 | c.*3284G>C (n.*3284G>C) c.2658G>C (p.Glu886Asp) c.3435G>C (p.Glu1145Asp) c.3323G>C (p.Arg1108Thr) n.3404G>C c.3099G>C (p.Glu1033Asp) c.3510G>C (p.Glu1170Asp) c.*3152G>C (n.*3152G>C) n.3535G>C c.151+6751G>C (n.151+6751G>C) c.655G>C (n.655G>C) c.966G>C (p.Glu322Asp) c.3432G>C (p.Glu1144Asp) c.656-779G>C (n.656-779G>C) c.3363G>C (p.Glu1121Asp) c.3426G>C (p.Glu1142Asp) c.3414G>C (p.Glu1138Asp) | ClinVar gnomAD v4 |
2 | g.144389661C>T | CA429441139 | ZEB2 | c.*3284G>A (n.*3284G>A) c.2658G>A (p.Glu886=) c.3435G>A (p.Glu1145=) c.3323G>A (p.Arg1108Lys) n.3404G>A c.3099G>A (p.Glu1033=) c.3510G>A (p.Glu1170=) c.*3152G>A (n.*3152G>A) n.3535G>A c.151+6751G>A (n.151+6751G>A) c.655G>A (n.655G>A) c.966G>A (p.Glu322=) c.3432G>A (p.Glu1144=) c.656-779G>A (n.656-779G>A) c.3363G>A (p.Glu1121=) c.3426G>A (p.Glu1142=) c.3414G>A (p.Glu1138=) | gnomAD v4 |
2 | g.144389662T>A | CA348699309 | ZEB2 | c.*3283A>T (n.*3283A>T) c.2657A>T (p.Glu886Val) c.3434A>T (p.Glu1145Val) c.3322A>T (p.Arg1108Trp) n.3403A>T c.3098A>T (p.Glu1033Val) c.3509A>T (p.Glu1170Val) c.*3151A>T (n.*3151A>T) n.3534A>T c.151+6750A>T (n.151+6750A>T) c.654A>T (n.654A>T) c.965A>T (p.Glu322Val) c.3431A>T (p.Glu1144Val) c.656-780A>T (n.656-780A>T) c.3362A>T (p.Glu1121Val) c.3425A>T (p.Glu1142Val) c.3413A>T (p.Glu1138Val) | |
2 | g.144389662T>C | CA348699310 | ZEB2 | c.*3283A>G (n.*3283A>G) c.2657A>G (p.Glu886Gly) c.3434A>G (p.Glu1145Gly) c.3322A>G (p.Arg1108Gly) n.3403A>G c.3098A>G (p.Glu1033Gly) c.3509A>G (p.Glu1170Gly) c.*3151A>G (n.*3151A>G) n.3534A>G c.151+6750A>G (n.151+6750A>G) c.654A>G (n.654A>G) c.965A>G (p.Glu322Gly) c.3431A>G (p.Glu1144Gly) c.656-780A>G (n.656-780A>G) c.3362A>G (p.Glu1121Gly) c.3425A>G (p.Glu1142Gly) c.3413A>G (p.Glu1138Gly) | gnomAD v4 |
2 | g.144389662T>G | CA348699311 | ZEB2 | c.*3283A>C (n.*3283A>C) c.2657A>C (p.Glu886Ala) c.3434A>C (p.Glu1145Ala) c.3322A>C (p.Arg1108=) n.3403A>C c.3098A>C (p.Glu1033Ala) c.3509A>C (p.Glu1170Ala) c.*3151A>C (n.*3151A>C) n.3534A>C c.151+6750A>C (n.151+6750A>C) c.654A>C (n.654A>C) c.965A>C (p.Glu322Ala) c.3431A>C (p.Glu1144Ala) c.656-780A>C (n.656-780A>C) c.3362A>C (p.Glu1121Ala) c.3425A>C (p.Glu1142Ala) c.3413A>C (p.Glu1138Ala) | |
2 | g.144389663C>A | CA348699312 | ZEB2 | c.*3282G>T (n.*3282G>T) c.2656G>T (p.Glu886Ter) c.3433G>T (p.Glu1145Ter) c.3321G>T (p.Ala1107=) n.3402G>T c.3097G>T (p.Glu1033Ter) c.3508G>T (p.Glu1170Ter) c.*3150G>T (n.*3150G>T) n.3533G>T c.151+6749G>T (n.151+6749G>T) c.653G>T (n.653G>T) c.964G>T (p.Glu322Ter) c.3430G>T (p.Glu1144Ter) c.656-781G>T (n.656-781G>T) c.3361G>T (p.Glu1121Ter) c.3424G>T (p.Glu1142Ter) c.3412G>T (p.Glu1138Ter) | |
2 | g.144389663C>G | CA348699313 | ZEB2 | c.*3282G>C (n.*3282G>C) c.2656G>C (p.Glu886Gln) c.3433G>C (p.Glu1145Gln) c.3321G>C (p.Ala1107=) n.3402G>C c.3097G>C (p.Glu1033Gln) c.3508G>C (p.Glu1170Gln) c.*3150G>C (n.*3150G>C) n.3533G>C c.151+6749G>C (n.151+6749G>C) c.653G>C (n.653G>C) c.964G>C (p.Glu322Gln) c.3430G>C (p.Glu1144Gln) c.656-781G>C (n.656-781G>C) c.3361G>C (p.Glu1121Gln) c.3424G>C (p.Glu1142Gln) c.3412G>C (p.Glu1138Gln) | gnomAD v4 |
2 | g.144389663C>T | CA348699314 | ZEB2 | c.*3282G>A (n.*3282G>A) c.2656G>A (p.Glu886Lys) c.3433G>A (p.Glu1145Lys) c.3321G>A (p.Ala1107=) n.3402G>A c.3097G>A (p.Glu1033Lys) c.3508G>A (p.Glu1170Lys) c.*3150G>A (n.*3150G>A) n.3533G>A c.151+6749G>A (n.151+6749G>A) c.653G>A (n.653G>A) c.964G>A (p.Glu322Lys) c.3430G>A (p.Glu1144Lys) c.656-781G>A (n.656-781G>A) c.3361G>A (p.Glu1121Lys) c.3424G>A (p.Glu1142Lys) c.3412G>A (p.Glu1138Lys) | gnomAD v4 |
2 | g.144389664G>A | CA1898118 | ZEB2 | c.*3281C>T (n.*3281C>T) c.2655C>T (p.Gly885=) c.3432C>T (p.Gly1144=) c.3320C>T (p.Ala1107Val) n.3401C>T c.3096C>T (p.Gly1032=) c.3507C>T (p.Gly1169=) c.*3149C>T (n.*3149C>T) n.3532C>T c.151+6748C>T (n.151+6748C>T) c.652C>T (n.652C>T) c.963C>T (p.Gly321=) c.3429C>T (p.Gly1143=) c.656-782C>T (n.656-782C>T) c.3360C>T (p.Gly1120=) c.3423C>T (p.Gly1141=) c.3411C>T (p.Gly1137=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.144389664G>C | CA429441140 | ZEB2 | c.*3281C>G (n.*3281C>G) c.2655C>G (p.Gly885=) c.3432C>G (p.Gly1144=) c.3320C>G (p.Ala1107Gly) n.3401C>G c.3096C>G (p.Gly1032=) c.3507C>G (p.Gly1169=) c.*3149C>G (n.*3149C>G) n.3532C>G c.151+6748C>G (n.151+6748C>G) c.652C>G (n.652C>G) c.963C>G (p.Gly321=) c.3429C>G (p.Gly1143=) c.656-782C>G (n.656-782C>G) c.3360C>G (p.Gly1120=) c.3423C>G (p.Gly1141=) c.3411C>G (p.Gly1137=) | |
2 | g.144389664G= | CA1294881289 | ZEB2 | c.*3281C= (n.*3281C=) c.2655C= (p.Gly885=) c.3432C= (p.Gly1144=) c.3320C= (p.Ala1107=) n.3401C= c.3096C= (p.Gly1032=) c.3507C= (p.Gly1169=) c.*3149C= (n.*3149C=) n.3532C= c.151+6748C= (n.151+6748C=) c.652C= (n.652C=) c.963C= (p.Gly321=) c.3429C= (p.Gly1143=) c.656-782C= (n.656-782C=) c.3360C= (p.Gly1120=) c.3423C= (p.Gly1141=) c.3411C= (p.Gly1137=) | |
2 | g.144389664G>T | CA429441141 | ZEB2 | c.*3281C>A (n.*3281C>A) c.2655C>A (p.Gly885=) c.3432C>A (p.Gly1144=) c.3320C>A (p.Ala1107Glu) n.3401C>A c.3096C>A (p.Gly1032=) c.3507C>A (p.Gly1169=) c.*3149C>A (n.*3149C>A) n.3532C>A c.151+6748C>A (n.151+6748C>A) c.652C>A (n.652C>A) c.963C>A (p.Gly321=) c.3429C>A (p.Gly1143=) c.656-782C>A (n.656-782C>A) c.3360C>A (p.Gly1120=) c.3423C>A (p.Gly1141=) c.3411C>A (p.Gly1137=) | |
2 | g.144389665C>A | CA348699317 | ZEB2 | c.*3280G>T (n.*3280G>T) c.2654G>T (p.Gly885Val) c.3431G>T (p.Gly1144Val) c.3319G>T (p.Ala1107Ser) n.3400G>T c.3095G>T (p.Gly1032Val) c.3506G>T (p.Gly1169Val) c.*3148G>T (n.*3148G>T) n.3531G>T c.151+6747G>T (n.151+6747G>T) c.651G>T (n.651G>T) c.962G>T (p.Gly321Val) c.3428G>T (p.Gly1143Val) c.656-783G>T (n.656-783G>T) c.3359G>T (p.Gly1120Val) c.3422G>T (p.Gly1141Val) c.3410G>T (p.Gly1137Val) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.144389665C= | CA1294881290 | ZEB2 | c.*3280G= (n.*3280G=) c.2654G= (p.Gly885=) c.3431G= (p.Gly1144=) c.3319G= (p.Ala1107=) n.3400G= c.3095G= (p.Gly1032=) c.3506G= (p.Gly1169=) c.*3148G= (n.*3148G=) n.3531G= c.151+6747G= (n.151+6747G=) c.651G= (n.651G=) c.962G= (p.Gly321=) c.3428G= (p.Gly1143=) c.656-783G= (n.656-783G=) c.3359G= (p.Gly1120=) c.3422G= (p.Gly1141=) c.3410G= (p.Gly1137=) | |
2 | g.144389665C>G | CA348699316 | ZEB2 | c.*3280G>C (n.*3280G>C) c.2654G>C (p.Gly885Ala) c.3431G>C (p.Gly1144Ala) c.3319G>C (p.Ala1107Pro) n.3400G>C c.3095G>C (p.Gly1032Ala) c.3506G>C (p.Gly1169Ala) c.*3148G>C (n.*3148G>C) n.3531G>C c.151+6747G>C (n.151+6747G>C) c.651G>C (n.651G>C) c.962G>C (p.Gly321Ala) c.3428G>C (p.Gly1143Ala) c.656-783G>C (n.656-783G>C) c.3359G>C (p.Gly1120Ala) c.3422G>C (p.Gly1141Ala) c.3410G>C (p.Gly1137Ala) | |
2 | g.144389665C>T | CA348699315 | ZEB2 | c.*3280G>A (n.*3280G>A) c.2654G>A (p.Gly885Asp) c.3431G>A (p.Gly1144Asp) c.3319G>A (p.Ala1107Thr) n.3400G>A c.3095G>A (p.Gly1032Asp) c.3506G>A (p.Gly1169Asp) c.*3148G>A (n.*3148G>A) n.3531G>A c.151+6747G>A (n.151+6747G>A) c.651G>A (n.651G>A) c.962G>A (p.Gly321Asp) c.3428G>A (p.Gly1143Asp) c.656-783G>A (n.656-783G>A) c.3359G>A (p.Gly1120Asp) c.3422G>A (p.Gly1141Asp) c.3410G>A (p.Gly1137Asp) | |
2 | g.144389666C>A | CA348699318 | ZEB2 | c.*3279G>T (n.*3279G>T) c.2653G>T (p.Gly885Cys) c.3430G>T (p.Gly1144Cys) c.3318G>T (p.Lys1106Asn) n.3399G>T c.3094G>T (p.Gly1032Cys) c.3505G>T (p.Gly1169Cys) c.*3147G>T (n.*3147G>T) n.3530G>T c.151+6746G>T (n.151+6746G>T) c.650G>T (n.650G>T) c.961G>T (p.Gly321Cys) c.3427G>T (p.Gly1143Cys) c.656-784G>T (n.656-784G>T) c.3358G>T (p.Gly1120Cys) c.3421G>T (p.Gly1141Cys) c.3409G>T (p.Gly1137Cys) | ClinVar dbSNP |
2 | g.144389666C= | CA1294881291 | ZEB2 | c.*3279G= (n.*3279G=) c.2653G= (p.Gly885=) c.3430G= (p.Gly1144=) c.3318G= (p.Lys1106=) n.3399G= c.3094G= (p.Gly1032=) c.3505G= (p.Gly1169=) c.*3147G= (n.*3147G=) n.3530G= c.151+6746G= (n.151+6746G=) c.650G= (n.650G=) c.961G= (p.Gly321=) c.3427G= (p.Gly1143=) c.656-784G= (n.656-784G=) c.3358G= (p.Gly1120=) c.3421G= (p.Gly1141=) c.3409G= (p.Gly1137=) | |
2 | g.144389666C>G | CA348699319 | ZEB2 | c.*3279G>C (n.*3279G>C) c.2653G>C (p.Gly885Arg) c.3430G>C (p.Gly1144Arg) c.3318G>C (p.Lys1106Asn) n.3399G>C c.3094G>C (p.Gly1032Arg) c.3505G>C (p.Gly1169Arg) c.*3147G>C (n.*3147G>C) n.3530G>C c.151+6746G>C (n.151+6746G>C) c.650G>C (n.650G>C) c.961G>C (p.Gly321Arg) c.3427G>C (p.Gly1143Arg) c.656-784G>C (n.656-784G>C) c.3358G>C (p.Gly1120Arg) c.3421G>C (p.Gly1141Arg) c.3409G>C (p.Gly1137Arg) | |
2 | g.144389666C>T | CA348699320 | ZEB2 | c.*3279G>A (n.*3279G>A) c.2653G>A (p.Gly885Ser) c.3430G>A (p.Gly1144Ser) c.3318G>A (p.Lys1106=) n.3399G>A c.3094G>A (p.Gly1032Ser) c.3505G>A (p.Gly1169Ser) c.*3147G>A (n.*3147G>A) n.3530G>A c.151+6746G>A (n.151+6746G>A) c.650G>A (n.650G>A) c.961G>A (p.Gly321Ser) c.3427G>A (p.Gly1143Ser) c.656-784G>A (n.656-784G>A) c.3358G>A (p.Gly1120Ser) c.3421G>A (p.Gly1141Ser) c.3409G>A (p.Gly1137Ser) | ClinVar dbSNP |
2 | g.144389667T>A | CA348699321 | ZEB2 | c.*3278A>T (n.*3278A>T) c.2652A>T (p.Glu884Asp) c.3429A>T (p.Glu1143Asp) c.3317A>T (p.Lys1106Met) n.3398A>T c.3093A>T (p.Glu1031Asp) c.3504A>T (p.Glu1168Asp) c.*3146A>T (n.*3146A>T) n.3529A>T c.151+6745A>T (n.151+6745A>T) c.649A>T (n.649A>T) c.960A>T (p.Glu320Asp) c.3426A>T (p.Glu1142Asp) c.656-785A>T (n.656-785A>T) c.3357A>T (p.Glu1119Asp) c.3420A>T (p.Glu1140Asp) c.3408A>T (p.Glu1136Asp) | |
2 | g.144389667T>C | CA429441142 | ZEB2 | c.*3278A>G (n.*3278A>G) c.2652A>G (p.Glu884=) c.3429A>G (p.Glu1143=) c.3317A>G (p.Lys1106Arg) n.3398A>G c.3093A>G (p.Glu1031=) c.3504A>G (p.Glu1168=) c.*3146A>G (n.*3146A>G) n.3529A>G c.151+6745A>G (n.151+6745A>G) c.649A>G (n.649A>G) c.960A>G (p.Glu320=) c.3426A>G (p.Glu1142=) c.656-785A>G (n.656-785A>G) c.3357A>G (p.Glu1119=) c.3420A>G (p.Glu1140=) c.3408A>G (p.Glu1136=) | |
2 | g.144389667T>G | CA348699322 | ZEB2 | c.*3278A>C (n.*3278A>C) c.2652A>C (p.Glu884Asp) c.3429A>C (p.Glu1143Asp) c.3317A>C (p.Lys1106Thr) n.3398A>C c.3093A>C (p.Glu1031Asp) c.3504A>C (p.Glu1168Asp) c.*3146A>C (n.*3146A>C) n.3529A>C c.151+6745A>C (n.151+6745A>C) c.649A>C (n.649A>C) c.960A>C (p.Glu320Asp) c.3426A>C (p.Glu1142Asp) c.656-785A>C (n.656-785A>C) c.3357A>C (p.Glu1119Asp) c.3420A>C (p.Glu1140Asp) c.3408A>C (p.Glu1136Asp) | |
2 | g.144389668T>A | CA348699323 | ZEB2 | c.*3277A>T (n.*3277A>T) c.2651A>T (p.Glu884Val) c.3428A>T (p.Glu1143Val) c.3316A>T (p.Lys1106Ter) n.3397A>T c.3092A>T (p.Glu1031Val) c.3503A>T (p.Glu1168Val) c.*3145A>T (n.*3145A>T) n.3528A>T c.151+6744A>T (n.151+6744A>T) c.648A>T (n.648A>T) c.959A>T (p.Glu320Val) c.3425A>T (p.Glu1142Val) c.656-786A>T (n.656-786A>T) c.3356A>T (p.Glu1119Val) c.3419A>T (p.Glu1140Val) c.3407A>T (p.Glu1136Val) | COSMIC |
2 | g.144389668T>C | CA348699324 | ZEB2 | c.*3277A>G (n.*3277A>G) c.2651A>G (p.Glu884Gly) c.3428A>G (p.Glu1143Gly) c.3316A>G (p.Lys1106Glu) n.3397A>G c.3092A>G (p.Glu1031Gly) c.3503A>G (p.Glu1168Gly) c.*3145A>G (n.*3145A>G) n.3528A>G c.151+6744A>G (n.151+6744A>G) c.648A>G (n.648A>G) c.959A>G (p.Glu320Gly) c.3425A>G (p.Glu1142Gly) c.656-786A>G (n.656-786A>G) c.3356A>G (p.Glu1119Gly) c.3419A>G (p.Glu1140Gly) c.3407A>G (p.Glu1136Gly) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.144389668T>G | CA348699325 | ZEB2 | c.*3277A>C (n.*3277A>C) c.2651A>C (p.Glu884Ala) c.3428A>C (p.Glu1143Ala) c.3316A>C (p.Lys1106Gln) n.3397A>C c.3092A>C (p.Glu1031Ala) c.3503A>C (p.Glu1168Ala) c.*3145A>C (n.*3145A>C) n.3528A>C c.151+6744A>C (n.151+6744A>C) c.648A>C (n.648A>C) c.959A>C (p.Glu320Ala) c.3425A>C (p.Glu1142Ala) c.656-786A>C (n.656-786A>C) c.3356A>C (p.Glu1119Ala) c.3419A>C (p.Glu1140Ala) c.3407A>C (p.Glu1136Ala) | |
2 | g.144389668T= | CA1294881292 | ZEB2 | c.*3277A= (n.*3277A=) c.2651A= (p.Glu884=) c.3428A= (p.Glu1143=) c.3316A= (p.Lys1106=) n.3397A= c.3092A= (p.Glu1031=) c.3503A= (p.Glu1168=) c.*3145A= (n.*3145A=) n.3528A= c.151+6744A= (n.151+6744A=) c.648A= (n.648A=) c.959A= (p.Glu320=) c.3425A= (p.Glu1142=) c.656-786A= (n.656-786A=) c.3356A= (p.Glu1119=) c.3419A= (p.Glu1140=) c.3407A= (p.Glu1136=) | |
2 | g.144389669C>A | CA348699326 | ZEB2 | c.*3276G>T (n.*3276G>T) c.2650G>T (p.Glu884Ter) c.3427G>T (p.Glu1143Ter) c.3315G>T (p.Lys1105Asn) n.3396G>T c.3091G>T (p.Glu1031Ter) c.3502G>T (p.Glu1168Ter) c.*3144G>T (n.*3144G>T) n.3527G>T c.151+6743G>T (n.151+6743G>T) c.647G>T (n.647G>T) c.958G>T (p.Glu320Ter) c.3424G>T (p.Glu1142Ter) c.656-787G>T (n.656-787G>T) c.3355G>T (p.Glu1119Ter) c.3418G>T (p.Glu1140Ter) c.3406G>T (p.Glu1136Ter) | COSMIC |
2 | g.144389669C>G | CA348699327 | ZEB2 | c.*3276G>C (n.*3276G>C) c.2650G>C (p.Glu884Gln) c.3427G>C (p.Glu1143Gln) c.3315G>C (p.Lys1105Asn) n.3396G>C c.3091G>C (p.Glu1031Gln) c.3502G>C (p.Glu1168Gln) c.*3144G>C (n.*3144G>C) n.3527G>C c.151+6743G>C (n.151+6743G>C) c.647G>C (n.647G>C) c.958G>C (p.Glu320Gln) c.3424G>C (p.Glu1142Gln) c.656-787G>C (n.656-787G>C) c.3355G>C (p.Glu1119Gln) c.3418G>C (p.Glu1140Gln) c.3406G>C (p.Glu1136Gln) | |
2 | g.144389669C>T | CA348699328 | ZEB2 | c.*3276G>A (n.*3276G>A) c.2650G>A (p.Glu884Lys) c.3427G>A (p.Glu1143Lys) c.3315G>A (p.Lys1105=) n.3396G>A c.3091G>A (p.Glu1031Lys) c.3502G>A (p.Glu1168Lys) c.*3144G>A (n.*3144G>A) n.3527G>A c.151+6743G>A (n.151+6743G>A) c.647G>A (n.647G>A) c.958G>A (p.Glu320Lys) c.3424G>A (p.Glu1142Lys) c.656-787G>A (n.656-787G>A) c.3355G>A (p.Glu1119Lys) c.3418G>A (p.Glu1140Lys) c.3406G>A (p.Glu1136Lys) | |
2 | g.144389670T>A | CA348699330 | ZEB2 | c.*3275A>T (n.*3275A>T) c.2649A>T (p.Lys883Asn) c.3426A>T (p.Lys1142Asn) c.3314A>T (p.Lys1105Met) n.3395A>T c.3090A>T (p.Lys1030Asn) c.3501A>T (p.Lys1167Asn) c.*3143A>T (n.*3143A>T) n.3526A>T c.151+6742A>T (n.151+6742A>T) c.646A>T (n.646A>T) c.957A>T (p.Lys319Asn) c.3423A>T (p.Lys1141Asn) c.656-788A>T (n.656-788A>T) c.3354A>T (p.Lys1118Asn) c.3417A>T (p.Lys1139Asn) c.3405A>T (p.Lys1135Asn) | |
2 | g.144389670T>C | CA1898119 | ZEB2 | c.*3275A>G (n.*3275A>G) c.2649A>G (p.Lys883=) c.3426A>G (p.Lys1142=) c.3314A>G (p.Lys1105Arg) n.3395A>G c.3090A>G (p.Lys1030=) c.3501A>G (p.Lys1167=) c.*3143A>G (n.*3143A>G) n.3526A>G c.151+6742A>G (n.151+6742A>G) c.646A>G (n.646A>G) c.957A>G (p.Lys319=) c.3423A>G (p.Lys1141=) c.656-788A>G (n.656-788A>G) c.3354A>G (p.Lys1118=) c.3417A>G (p.Lys1139=) c.3405A>G (p.Lys1135=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.144389670T>G | CA348699329 | ZEB2 | c.*3275A>C (n.*3275A>C) c.2649A>C (p.Lys883Asn) c.3426A>C (p.Lys1142Asn) c.3314A>C (p.Lys1105Thr) n.3395A>C c.3090A>C (p.Lys1030Asn) c.3501A>C (p.Lys1167Asn) c.*3143A>C (n.*3143A>C) n.3526A>C c.151+6742A>C (n.151+6742A>C) c.646A>C (n.646A>C) c.957A>C (p.Lys319Asn) c.3423A>C (p.Lys1141Asn) c.656-788A>C (n.656-788A>C) c.3354A>C (p.Lys1118Asn) c.3417A>C (p.Lys1139Asn) c.3405A>C (p.Lys1135Asn) | |
2 | g.144389670T= | CA1294881293 | ZEB2 | c.*3275A= (n.*3275A=) c.2649A= (p.Lys883=) c.3426A= (p.Lys1142=) c.3314A= (p.Lys1105=) n.3395A= c.3090A= (p.Lys1030=) c.3501A= (p.Lys1167=) c.*3143A= (n.*3143A=) n.3526A= c.151+6742A= (n.151+6742A=) c.646A= (n.646A=) c.957A= (p.Lys319=) c.3423A= (p.Lys1141=) c.656-788A= (n.656-788A=) c.3354A= (p.Lys1118=) c.3417A= (p.Lys1139=) c.3405A= (p.Lys1135=) | |
2 | g.144389671T>A | CA348699331 | ZEB2 | c.*3274A>T (n.*3274A>T) c.2648A>T (p.Lys883Ile) c.3425A>T (p.Lys1142Ile) c.3313A>T (p.Lys1105Ter) n.3394A>T c.3089A>T (p.Lys1030Ile) c.3500A>T (p.Lys1167Ile) c.*3142A>T (n.*3142A>T) n.3525A>T c.151+6741A>T (n.151+6741A>T) c.645A>T (n.645A>T) c.956A>T (p.Lys319Ile) c.3422A>T (p.Lys1141Ile) c.656-789A>T (n.656-789A>T) c.3353A>T (p.Lys1118Ile) c.3416A>T (p.Lys1139Ile) c.3404A>T (p.Lys1135Ile) | |
2 | g.144389671T>C | CA348699332 | ZEB2 | c.*3274A>G (n.*3274A>G) c.2648A>G (p.Lys883Arg) c.3425A>G (p.Lys1142Arg) c.3313A>G (p.Lys1105Glu) n.3394A>G c.3089A>G (p.Lys1030Arg) c.3500A>G (p.Lys1167Arg) c.*3142A>G (n.*3142A>G) n.3525A>G c.151+6741A>G (n.151+6741A>G) c.645A>G (n.645A>G) c.956A>G (p.Lys319Arg) c.3422A>G (p.Lys1141Arg) c.656-789A>G (n.656-789A>G) c.3353A>G (p.Lys1118Arg) c.3416A>G (p.Lys1139Arg) c.3404A>G (p.Lys1135Arg) | |
2 | g.144389671T>G | CA348699333 | ZEB2 | c.*3274A>C (n.*3274A>C) c.2648A>C (p.Lys883Thr) c.3425A>C (p.Lys1142Thr) c.3313A>C (p.Lys1105Gln) n.3394A>C c.3089A>C (p.Lys1030Thr) c.3500A>C (p.Lys1167Thr) c.*3142A>C (n.*3142A>C) n.3525A>C c.151+6741A>C (n.151+6741A>C) c.645A>C (n.645A>C) c.956A>C (p.Lys319Thr) c.3422A>C (p.Lys1141Thr) c.656-789A>C (n.656-789A>C) c.3353A>C (p.Lys1118Thr) c.3416A>C (p.Lys1139Thr) c.3404A>C (p.Lys1135Thr) | |
2 | g.144389672T>A | CA348699334 | ZEB2 | c.*3273A>T (n.*3273A>T) c.2647A>T (p.Lys883Ter) c.3424A>T (p.Lys1142Ter) c.3312A>T (p.Arg1104Ser) n.3393A>T c.3088A>T (p.Lys1030Ter) c.3499A>T (p.Lys1167Ter) c.*3141A>T (n.*3141A>T) n.3524A>T c.151+6740A>T (n.151+6740A>T) c.644A>T (n.644A>T) c.955A>T (p.Lys319Ter) c.3421A>T (p.Lys1141Ter) c.656-790A>T (n.656-790A>T) c.3352A>T (p.Lys1118Ter) c.3415A>T (p.Lys1139Ter) c.3403A>T (p.Lys1135Ter) | |
2 | g.144389672T>C | CA348699335 | ZEB2 | c.*3273A>G (n.*3273A>G) c.2647A>G (p.Lys883Glu) c.3424A>G (p.Lys1142Glu) c.3312A>G (p.Arg1104=) n.3393A>G c.3088A>G (p.Lys1030Glu) c.3499A>G (p.Lys1167Glu) c.*3141A>G (n.*3141A>G) n.3524A>G c.151+6740A>G (n.151+6740A>G) c.644A>G (n.644A>G) c.955A>G (p.Lys319Glu) c.3421A>G (p.Lys1141Glu) c.656-790A>G (n.656-790A>G) c.3352A>G (p.Lys1118Glu) c.3415A>G (p.Lys1139Glu) c.3403A>G (p.Lys1135Glu) | |
2 | g.144389672T>G | CA348699336 | ZEB2 | c.*3273A>C (n.*3273A>C) c.2647A>C (p.Lys883Gln) c.3424A>C (p.Lys1142Gln) c.3312A>C (p.Arg1104Ser) n.3393A>C c.3088A>C (p.Lys1030Gln) c.3499A>C (p.Lys1167Gln) c.*3141A>C (n.*3141A>C) n.3524A>C c.151+6740A>C (n.151+6740A>C) c.644A>C (n.644A>C) c.955A>C (p.Lys319Gln) c.3421A>C (p.Lys1141Gln) c.656-790A>C (n.656-790A>C) c.3352A>C (p.Lys1118Gln) c.3415A>C (p.Lys1139Gln) c.3403A>C (p.Lys1135Gln) | |
2 | g.144389673C>A | CA348699337 | ZEB2 | c.*3272G>T (n.*3272G>T) c.2646G>T (p.Glu882Asp) c.3423G>T (p.Glu1141Asp) c.3311G>T (p.Arg1104Ile) n.3392G>T c.3087G>T (p.Glu1029Asp) c.3498G>T (p.Glu1166Asp) c.*3140G>T (n.*3140G>T) n.3523G>T c.151+6739G>T (n.151+6739G>T) c.643G>T (n.643G>T) c.954G>T (p.Glu318Asp) c.3420G>T (p.Glu1140Asp) c.656-791G>T (n.656-791G>T) c.3351G>T (p.Glu1117Asp) c.3414G>T (p.Glu1138Asp) c.3402G>T (p.Glu1134Asp) | |
2 | g.144389673C= | CA1294881294 | ZEB2 | c.*3272G= (n.*3272G=) c.2646G= (p.Glu882=) c.3423G= (p.Glu1141=) c.3311G= (p.Arg1104=) n.3392G= c.3087G= (p.Glu1029=) c.3498G= (p.Glu1166=) c.*3140G= (n.*3140G=) n.3523G= c.151+6739G= (n.151+6739G=) c.643G= (n.643G=) c.954G= (p.Glu318=) c.3420G= (p.Glu1140=) c.656-791G= (n.656-791G=) c.3351G= (p.Glu1117=) c.3414G= (p.Glu1138=) c.3402G= (p.Glu1134=) | |
2 | g.144389673C>G | CA348699338 | ZEB2 | c.*3272G>C (n.*3272G>C) c.2646G>C (p.Glu882Asp) c.3423G>C (p.Glu1141Asp) c.3311G>C (p.Arg1104Thr) n.3392G>C c.3087G>C (p.Glu1029Asp) c.3498G>C (p.Glu1166Asp) c.*3140G>C (n.*3140G>C) n.3523G>C c.151+6739G>C (n.151+6739G>C) c.643G>C (n.643G>C) c.954G>C (p.Glu318Asp) c.3420G>C (p.Glu1140Asp) c.656-791G>C (n.656-791G>C) c.3351G>C (p.Glu1117Asp) c.3414G>C (p.Glu1138Asp) c.3402G>C (p.Glu1134Asp) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.144389673C>T | CA429441143 | ZEB2 | c.*3272G>A (n.*3272G>A) c.2646G>A (p.Glu882=) c.3423G>A (p.Glu1141=) c.3311G>A (p.Arg1104Lys) n.3392G>A c.3087G>A (p.Glu1029=) c.3498G>A (p.Glu1166=) c.*3140G>A (n.*3140G>A) n.3523G>A c.151+6739G>A (n.151+6739G>A) c.643G>A (n.643G>A) c.954G>A (p.Glu318=) c.3420G>A (p.Glu1140=) c.656-791G>A (n.656-791G>A) c.3351G>A (p.Glu1117=) c.3414G>A (p.Glu1138=) c.3402G>A (p.Glu1134=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.144389674T>A | CA348699339 | ZEB2 | c.*3271A>T (n.*3271A>T) c.2645A>T (p.Glu882Val) c.3422A>T (p.Glu1141Val) c.3310A>T (p.Arg1104Ter) n.3391A>T c.3086A>T (p.Glu1029Val) c.3497A>T (p.Glu1166Val) c.*3139A>T (n.*3139A>T) n.3522A>T c.151+6738A>T (n.151+6738A>T) c.642A>T (n.642A>T) c.953A>T (p.Glu318Val) c.3419A>T (p.Glu1140Val) c.656-792A>T (n.656-792A>T) c.3350A>T (p.Glu1117Val) c.3413A>T (p.Glu1138Val) c.3401A>T (p.Glu1134Val) | |
2 | g.144389674T>C | CA348699340 | ZEB2 | c.*3271A>G (n.*3271A>G) c.2645A>G (p.Glu882Gly) c.3422A>G (p.Glu1141Gly) c.3310A>G (p.Arg1104Gly) n.3391A>G c.3086A>G (p.Glu1029Gly) c.3497A>G (p.Glu1166Gly) c.*3139A>G (n.*3139A>G) n.3522A>G c.151+6738A>G (n.151+6738A>G) c.642A>G (n.642A>G) c.953A>G (p.Glu318Gly) c.3419A>G (p.Glu1140Gly) c.656-792A>G (n.656-792A>G) c.3350A>G (p.Glu1117Gly) c.3413A>G (p.Glu1138Gly) c.3401A>G (p.Glu1134Gly) | |
2 | g.144389674T>G | CA348699341 | ZEB2 | c.*3271A>C (n.*3271A>C) c.2645A>C (p.Glu882Ala) c.3422A>C (p.Glu1141Ala) c.3310A>C (p.Arg1104=) n.3391A>C c.3086A>C (p.Glu1029Ala) c.3497A>C (p.Glu1166Ala) c.*3139A>C (n.*3139A>C) n.3522A>C c.151+6738A>C (n.151+6738A>C) c.642A>C (n.642A>C) c.953A>C (p.Glu318Ala) c.3419A>C (p.Glu1140Ala) c.656-792A>C (n.656-792A>C) c.3350A>C (p.Glu1117Ala) c.3413A>C (p.Glu1138Ala) c.3401A>C (p.Glu1134Ala) | |
2 | g.144389675C>A | CA348699344 | ZEB2 | c.*3270G>T (n.*3270G>T) c.2644G>T (p.Glu882Ter) c.3421G>T (p.Glu1141Ter) c.3309G>T (p.Thr1103=) n.3390G>T c.3085G>T (p.Glu1029Ter) c.3496G>T (p.Glu1166Ter) c.*3138G>T (n.*3138G>T) n.3521G>T c.151+6737G>T (n.151+6737G>T) c.641G>T (n.641G>T) c.952G>T (p.Glu318Ter) c.3418G>T (p.Glu1140Ter) c.656-793G>T (n.656-793G>T) c.3349G>T (p.Glu1117Ter) c.3412G>T (p.Glu1138Ter) c.3400G>T (p.Glu1134Ter) | |
2 | g.144389675C>G | CA348699343 | ZEB2 | c.*3270G>C (n.*3270G>C) c.2644G>C (p.Glu882Gln) c.3421G>C (p.Glu1141Gln) c.3309G>C (p.Thr1103=) n.3390G>C c.3085G>C (p.Glu1029Gln) c.3496G>C (p.Glu1166Gln) c.*3138G>C (n.*3138G>C) n.3521G>C c.151+6737G>C (n.151+6737G>C) c.641G>C (n.641G>C) c.952G>C (p.Glu318Gln) c.3418G>C (p.Glu1140Gln) c.656-793G>C (n.656-793G>C) c.3349G>C (p.Glu1117Gln) c.3412G>C (p.Glu1138Gln) c.3400G>C (p.Glu1134Gln) | |
2 | g.144389675C>T | CA348699342 | ZEB2 | c.*3270G>A (n.*3270G>A) c.2644G>A (p.Glu882Lys) c.3421G>A (p.Glu1141Lys) c.3309G>A (p.Thr1103=) n.3390G>A c.3085G>A (p.Glu1029Lys) c.3496G>A (p.Glu1166Lys) c.*3138G>A (n.*3138G>A) n.3521G>A c.151+6737G>A (n.151+6737G>A) c.641G>A (n.641G>A) c.952G>A (p.Glu318Lys) c.3418G>A (p.Glu1140Lys) c.656-793G>A (n.656-793G>A) c.3349G>A (p.Glu1117Lys) c.3412G>A (p.Glu1138Lys) c.3400G>A (p.Glu1134Lys) | COSMIC |
2 | g.144389676G>A | CA429441144 | ZEB2 | c.*3269C>T (n.*3269C>T) c.2643C>T (p.His881=) c.3420C>T (p.His1140=) c.3308C>T (p.Thr1103Met) n.3389C>T c.3084C>T (p.His1028=) c.3495C>T (p.His1165=) c.*3137C>T (n.*3137C>T) n.3520C>T c.151+6736C>T (n.151+6736C>T) c.640C>T (n.640C>T) c.951C>T (p.His317=) c.3417C>T (p.His1139=) c.656-794C>T (n.656-794C>T) c.3348C>T (p.His1116=) c.3411C>T (p.His1137=) c.3399C>T (p.His1133=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.144389676G>C | CA348699345 | ZEB2 | c.*3269C>G (n.*3269C>G) c.2643C>G (p.His881Gln) c.3420C>G (p.His1140Gln) c.3308C>G (p.Thr1103Arg) n.3389C>G c.3084C>G (p.His1028Gln) c.3495C>G (p.His1165Gln) c.*3137C>G (n.*3137C>G) n.3520C>G c.151+6736C>G (n.151+6736C>G) c.640C>G (n.640C>G) c.951C>G (p.His317Gln) c.3417C>G (p.His1139Gln) c.656-794C>G (n.656-794C>G) c.3348C>G (p.His1116Gln) c.3411C>G (p.His1137Gln) c.3399C>G (p.His1133Gln) | dbSNP |
2 | g.144389676G= | CA1294881295 | ZEB2 | c.*3269C= (n.*3269C=) c.2643C= (p.His881=) c.3420C= (p.His1140=) c.3308C= (p.Thr1103=) n.3389C= c.3084C= (p.His1028=) c.3495C= (p.His1165=) c.*3137C= (n.*3137C=) n.3520C= c.151+6736C= (n.151+6736C=) c.640C= (n.640C=) c.951C= (p.His317=) c.3417C= (p.His1139=) c.656-794C= (n.656-794C=) c.3348C= (p.His1116=) c.3411C= (p.His1137=) c.3399C= (p.His1133=) | |
2 | g.144389676G>T | CA348699346 | ZEB2 | c.*3269C>A (n.*3269C>A) c.2643C>A (p.His881Gln) c.3420C>A (p.His1140Gln) c.3308C>A (p.Thr1103Lys) n.3389C>A c.3084C>A (p.His1028Gln) c.3495C>A (p.His1165Gln) c.*3137C>A (n.*3137C>A) n.3520C>A c.151+6736C>A (n.151+6736C>A) c.640C>A (n.640C>A) c.951C>A (p.His317Gln) c.3417C>A (p.His1139Gln) c.656-794C>A (n.656-794C>A) c.3348C>A (p.His1116Gln) c.3411C>A (p.His1137Gln) c.3399C>A (p.His1133Gln) | |
2 | g.144389677T>A | CA348699347 | ZEB2 | c.*3268A>T (n.*3268A>T) c.2642A>T (p.His881Leu) c.3419A>T (p.His1140Leu) c.3307A>T (p.Thr1103Ser) n.3388A>T c.3083A>T (p.His1028Leu) c.3494A>T (p.His1165Leu) c.*3136A>T (n.*3136A>T) n.3519A>T c.151+6735A>T (n.151+6735A>T) c.639A>T (n.639A>T) c.950A>T (p.His317Leu) c.3416A>T (p.His1139Leu) c.656-795A>T (n.656-795A>T) c.3347A>T (p.His1116Leu) c.3410A>T (p.His1137Leu) c.3398A>T (p.His1133Leu) | |
2 | g.144389677T>C | CA348699348 | ZEB2 | c.*3268A>G (n.*3268A>G) c.2642A>G (p.His881Arg) c.3419A>G (p.His1140Arg) c.3307A>G (p.Thr1103Ala) n.3388A>G c.3083A>G (p.His1028Arg) c.3494A>G (p.His1165Arg) c.*3136A>G (n.*3136A>G) n.3519A>G c.151+6735A>G (n.151+6735A>G) c.639A>G (n.639A>G) c.950A>G (p.His317Arg) c.3416A>G (p.His1139Arg) c.656-795A>G (n.656-795A>G) c.3347A>G (p.His1116Arg) c.3410A>G (p.His1137Arg) c.3398A>G (p.His1133Arg) | dbSNP |
2 | g.144389677T>G | CA348699349 | ZEB2 | c.*3268A>C (n.*3268A>C) c.2642A>C (p.His881Pro) c.3419A>C (p.His1140Pro) c.3307A>C (p.Thr1103Pro) n.3388A>C c.3083A>C (p.His1028Pro) c.3494A>C (p.His1165Pro) c.*3136A>C (n.*3136A>C) n.3519A>C c.151+6735A>C (n.151+6735A>C) c.639A>C (n.639A>C) c.950A>C (p.His317Pro) c.3416A>C (p.His1139Pro) c.656-795A>C (n.656-795A>C) c.3347A>C (p.His1116Pro) c.3410A>C (p.His1137Pro) c.3398A>C (p.His1133Pro) | gnomAD v4 |
2 | g.144389677T= | CA1294881296 | ZEB2 | c.*3268A= (n.*3268A=) c.2642A= (p.His881=) c.3419A= (p.His1140=) c.3307A= (p.Thr1103=) n.3388A= c.3083A= (p.His1028=) c.3494A= (p.His1165=) c.*3136A= (n.*3136A=) n.3519A= c.151+6735A= (n.151+6735A=) c.639A= (n.639A=) c.950A= (p.His317=) c.3416A= (p.His1139=) c.656-795A= (n.656-795A=) c.3347A= (p.His1116=) c.3410A= (p.His1137=) c.3398A= (p.His1133=) | |
2 | g.144389678G>A | CA348699350 | ZEB2 | c.*3267C>T (n.*3267C>T) c.2641C>T (p.His881Tyr) c.3418C>T (p.His1140Tyr) c.3306C>T (p.Ser1102=) n.3387C>T c.3082C>T (p.His1028Tyr) c.3493C>T (p.His1165Tyr) c.*3135C>T (n.*3135C>T) n.3518C>T c.151+6734C>T (n.151+6734C>T) c.638C>T (n.638C>T) c.949C>T (p.His317Tyr) c.3415C>T (p.His1139Tyr) c.656-796C>T (n.656-796C>T) c.3346C>T (p.His1116Tyr) c.3409C>T (p.His1137Tyr) c.3397C>T (p.His1133Tyr) | |
2 | g.144389678G>C | CA348699351 | ZEB2 | c.*3267C>G (n.*3267C>G) c.2641C>G (p.His881Asp) c.3418C>G (p.His1140Asp) c.3306C>G (p.Ser1102Arg) n.3387C>G c.3082C>G (p.His1028Asp) c.3493C>G (p.His1165Asp) c.*3135C>G (n.*3135C>G) n.3518C>G c.151+6734C>G (n.151+6734C>G) c.638C>G (n.638C>G) c.949C>G (p.His317Asp) c.3415C>G (p.His1139Asp) c.656-796C>G (n.656-796C>G) c.3346C>G (p.His1116Asp) c.3409C>G (p.His1137Asp) c.3397C>G (p.His1133Asp) | |
2 | g.144389678G>T | CA348699352 | ZEB2 | c.*3267C>A (n.*3267C>A) c.2641C>A (p.His881Asn) c.3418C>A (p.His1140Asn) c.3306C>A (p.Ser1102Arg) n.3387C>A c.3082C>A (p.His1028Asn) c.3493C>A (p.His1165Asn) c.*3135C>A (n.*3135C>A) n.3518C>A c.151+6734C>A (n.151+6734C>A) c.638C>A (n.638C>A) c.949C>A (p.His317Asn) c.3415C>A (p.His1139Asn) c.656-796C>A (n.656-796C>A) c.3346C>A (p.His1116Asn) c.3409C>A (p.His1137Asn) c.3397C>A (p.His1133Asn) | gnomAD v4 |
2 | g.144389679C>A | CA348699353 | ZEB2 | c.*3266G>T (n.*3266G>T) c.2640G>T (p.Glu880Asp) c.3417G>T (p.Glu1139Asp) c.3305G>T (p.Ser1102Ile) n.3386G>T c.3081G>T (p.Glu1027Asp) c.3492G>T (p.Glu1164Asp) c.*3134G>T (n.*3134G>T) n.3517G>T c.151+6733G>T (n.151+6733G>T) c.637G>T (n.637G>T) c.948G>T (p.Glu316Asp) c.3414G>T (p.Glu1138Asp) c.656-797G>T (n.656-797G>T) c.3345G>T (p.Glu1115Asp) c.3408G>T (p.Glu1136Asp) c.3396G>T (p.Glu1132Asp) | |
2 | g.144389679C= | CA1294881297 | ZEB2 | c.*3266G= (n.*3266G=) c.2640G= (p.Glu880=) c.3417G= (p.Glu1139=) c.3305G= (p.Ser1102=) n.3386G= c.3081G= (p.Glu1027=) c.3492G= (p.Glu1164=) c.*3134G= (n.*3134G=) n.3517G= c.151+6733G= (n.151+6733G=) c.637G= (n.637G=) c.948G= (p.Glu316=) c.3414G= (p.Glu1138=) c.656-797G= (n.656-797G=) c.3345G= (p.Glu1115=) c.3408G= (p.Glu1136=) c.3396G= (p.Glu1132=) | |
2 | g.144389679C>G | CA348699354 | ZEB2 | c.*3266G>C (n.*3266G>C) c.2640G>C (p.Glu880Asp) c.3417G>C (p.Glu1139Asp) c.3305G>C (p.Ser1102Thr) n.3386G>C c.3081G>C (p.Glu1027Asp) c.3492G>C (p.Glu1164Asp) c.*3134G>C (n.*3134G>C) n.3517G>C c.151+6733G>C (n.151+6733G>C) c.637G>C (n.637G>C) c.948G>C (p.Glu316Asp) c.3414G>C (p.Glu1138Asp) c.656-797G>C (n.656-797G>C) c.3345G>C (p.Glu1115Asp) c.3408G>C (p.Glu1136Asp) c.3396G>C (p.Glu1132Asp) | |
2 | g.144389679C>T | CA429441145 | ZEB2 | c.*3266G>A (n.*3266G>A) c.2640G>A (p.Glu880=) c.3417G>A (p.Glu1139=) c.3305G>A (p.Ser1102Asn) n.3386G>A c.3081G>A (p.Glu1027=) c.3492G>A (p.Glu1164=) c.*3134G>A (n.*3134G>A) n.3517G>A c.151+6733G>A (n.151+6733G>A) c.637G>A (n.637G>A) c.948G>A (p.Glu316=) c.3414G>A (p.Glu1138=) c.656-797G>A (n.656-797G>A) c.3345G>A (p.Glu1115=) c.3408G>A (p.Glu1136=) c.3396G>A (p.Glu1132=) | dbSNP gnomAD v4 |
2 | g.144389680T>A | CA348699355 | ZEB2 | c.*3265A>T (n.*3265A>T) c.2639A>T (p.Glu880Val) c.3416A>T (p.Glu1139Val) c.3304A>T (p.Ser1102Cys) n.3385A>T c.3080A>T (p.Glu1027Val) c.3491A>T (p.Glu1164Val) c.*3133A>T (n.*3133A>T) n.3516A>T c.151+6732A>T (n.151+6732A>T) c.636A>T (n.636A>T) c.947A>T (p.Glu316Val) c.3413A>T (p.Glu1138Val) c.656-798A>T (n.656-798A>T) c.3344A>T (p.Glu1115Val) c.3407A>T (p.Glu1136Val) c.3395A>T (p.Glu1132Val) | |
2 | g.144389680T>C | CA348699356 | ZEB2 | c.*3265A>G (n.*3265A>G) c.2639A>G (p.Glu880Gly) c.3416A>G (p.Glu1139Gly) c.3304A>G (p.Ser1102Gly) n.3385A>G c.3080A>G (p.Glu1027Gly) c.3491A>G (p.Glu1164Gly) c.*3133A>G (n.*3133A>G) n.3516A>G c.151+6732A>G (n.151+6732A>G) c.636A>G (n.636A>G) c.947A>G (p.Glu316Gly) c.3413A>G (p.Glu1138Gly) c.656-798A>G (n.656-798A>G) c.3344A>G (p.Glu1115Gly) c.3407A>G (p.Glu1136Gly) c.3395A>G (p.Glu1132Gly) | |
2 | g.144389680T>G | CA348699357 | ZEB2 | c.*3265A>C (n.*3265A>C) c.2639A>C (p.Glu880Ala) c.3416A>C (p.Glu1139Ala) c.3304A>C (p.Ser1102Arg) n.3385A>C c.3080A>C (p.Glu1027Ala) c.3491A>C (p.Glu1164Ala) c.*3133A>C (n.*3133A>C) n.3516A>C c.151+6732A>C (n.151+6732A>C) c.636A>C (n.636A>C) c.947A>C (p.Glu316Ala) c.3413A>C (p.Glu1138Ala) c.656-798A>C (n.656-798A>C) c.3344A>C (p.Glu1115Ala) c.3407A>C (p.Glu1136Ala) c.3395A>C (p.Glu1132Ala) | |
2 | g.144389681C>A | CA348699359 | ZEB2 | c.*3264G>T (n.*3264G>T) c.2638G>T (p.Glu880Ter) c.3415G>T (p.Glu1139Ter) c.3303G>T (p.Arg1101Ser) n.3384G>T c.3079G>T (p.Glu1027Ter) c.3490G>T (p.Glu1164Ter) c.*3132G>T (n.*3132G>T) n.3515G>T c.151+6731G>T (n.151+6731G>T) c.635G>T (n.635G>T) c.946G>T (p.Glu316Ter) c.3412G>T (p.Glu1138Ter) c.656-799G>T (n.656-799G>T) c.3343G>T (p.Glu1115Ter) c.3406G>T (p.Glu1136Ter) c.3394G>T (p.Glu1132Ter) | |
2 | g.144389681C>G | CA348699360 | ZEB2 | c.*3264G>C (n.*3264G>C) c.2638G>C (p.Glu880Gln) c.3415G>C (p.Glu1139Gln) c.3303G>C (p.Arg1101Ser) n.3384G>C c.3079G>C (p.Glu1027Gln) c.3490G>C (p.Glu1164Gln) c.*3132G>C (n.*3132G>C) n.3515G>C c.151+6731G>C (n.151+6731G>C) c.635G>C (n.635G>C) c.946G>C (p.Glu316Gln) c.3412G>C (p.Glu1138Gln) c.656-799G>C (n.656-799G>C) c.3343G>C (p.Glu1115Gln) c.3406G>C (p.Glu1136Gln) c.3394G>C (p.Glu1132Gln) | |
2 | g.144389681C>T | CA348699358 | ZEB2 | c.*3264G>A (n.*3264G>A) c.2638G>A (p.Glu880Lys) c.3415G>A (p.Glu1139Lys) c.3303G>A (p.Arg1101=) n.3384G>A c.3079G>A (p.Glu1027Lys) c.3490G>A (p.Glu1164Lys) c.*3132G>A (n.*3132G>A) n.3515G>A c.151+6731G>A (n.151+6731G>A) c.635G>A (n.635G>A) c.946G>A (p.Glu316Lys) c.3412G>A (p.Glu1138Lys) c.656-799G>A (n.656-799G>A) c.3343G>A (p.Glu1115Lys) c.3406G>A (p.Glu1136Lys) c.3394G>A (p.Glu1132Lys) | |
2 | g.144389682C>A | CA348699362 | ZEB2 | c.*3263G>T (n.*3263G>T) c.2637G>T (p.Lys879Asn) c.3414G>T (p.Lys1138Asn) c.3302G>T (p.Arg1101Met) n.3383G>T c.3078G>T (p.Lys1026Asn) c.3489G>T (p.Lys1163Asn) c.*3131G>T (n.*3131G>T) n.3514G>T c.151+6730G>T (n.151+6730G>T) c.634G>T (n.634G>T) c.945G>T (p.Lys315Asn) c.3411G>T (p.Lys1137Asn) c.656-800G>T (n.656-800G>T) c.3342G>T (p.Lys1114Asn) c.3405G>T (p.Lys1135Asn) c.3393G>T (p.Lys1131Asn) | |
2 | g.144389682C= | CA1294881298 | ZEB2 | c.*3263G= (n.*3263G=) c.2637G= (p.Lys879=) c.3414G= (p.Lys1138=) c.3302G= (p.Arg1101=) n.3383G= c.3078G= (p.Lys1026=) c.3489G= (p.Lys1163=) c.*3131G= (n.*3131G=) n.3514G= c.151+6730G= (n.151+6730G=) c.634G= (n.634G=) c.945G= (p.Lys315=) c.3411G= (p.Lys1137=) c.656-800G= (n.656-800G=) c.3342G= (p.Lys1114=) c.3405G= (p.Lys1135=) c.3393G= (p.Lys1131=) | |
2 | g.144389682C>G | CA348699361 | ZEB2 | c.*3263G>C (n.*3263G>C) c.2637G>C (p.Lys879Asn) c.3414G>C (p.Lys1138Asn) c.3302G>C (p.Arg1101Thr) n.3383G>C c.3078G>C (p.Lys1026Asn) c.3489G>C (p.Lys1163Asn) c.*3131G>C (n.*3131G>C) n.3514G>C c.151+6730G>C (n.151+6730G>C) c.634G>C (n.634G>C) c.945G>C (p.Lys315Asn) c.3411G>C (p.Lys1137Asn) c.656-800G>C (n.656-800G>C) c.3342G>C (p.Lys1114Asn) c.3405G>C (p.Lys1135Asn) c.3393G>C (p.Lys1131Asn) | |
2 | g.144389682C>T | CA1898120 | ZEB2 | c.*3263G>A (n.*3263G>A) c.2637G>A (p.Lys879=) c.3414G>A (p.Lys1138=) c.3302G>A (p.Arg1101Lys) n.3383G>A c.3078G>A (p.Lys1026=) c.3489G>A (p.Lys1163=) c.*3131G>A (n.*3131G>A) n.3514G>A c.151+6730G>A (n.151+6730G>A) c.634G>A (n.634G>A) c.945G>A (p.Lys315=) c.3411G>A (p.Lys1137=) c.656-800G>A (n.656-800G>A) c.3342G>A (p.Lys1114=) c.3405G>A (p.Lys1135=) c.3393G>A (p.Lys1131=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.144389684_144389686del | CA645536264 | ZEB2 | c.*3261_*3263del (n.*3261_*3263del) c.2635_2637del (p.Lys879del) c.3412_3414del (p.Lys1138del) c.3300_3302del (p.Arg1101del) n.3381_3383del c.3076_3078del (p.Lys1026del) c.3487_3489del (p.Lys1163del) c.*3129_*3131del (n.*3129_*3131del) n.3512_3514del c.151+6728_151+6730del (n.151+6728_151+6730del) c.632_634del (n.632_634del) c.943_945del (p.Lys315del) c.3409_3411del (p.Lys1137del) c.656-802_656-800del (n.656-802_656-800del) c.3340_3342del (p.Lys1114del) c.3403_3405del (p.Lys1135del) c.3391_3393del (p.Lys1131del) | COSMIC |
2 | g.144389683T>A | CA348699363 | ZEB2 | c.*3262A>T (n.*3262A>T) c.2636A>T (p.Lys879Met) c.3413A>T (p.Lys1138Met) c.3301A>T (p.Arg1101Trp) n.3382A>T c.3077A>T (p.Lys1026Met) c.3488A>T (p.Lys1163Met) c.*3130A>T (n.*3130A>T) n.3513A>T c.151+6729A>T (n.151+6729A>T) c.633A>T (n.633A>T) c.944A>T (p.Lys315Met) c.3410A>T (p.Lys1137Met) c.656-801A>T (n.656-801A>T) c.3341A>T (p.Lys1114Met) c.3404A>T (p.Lys1135Met) c.3392A>T (p.Lys1131Met) | |
2 | g.144389683T>C | CA348699364 | ZEB2 | c.*3262A>G (n.*3262A>G) c.2636A>G (p.Lys879Arg) c.3413A>G (p.Lys1138Arg) c.3301A>G (p.Arg1101Gly) n.3382A>G c.3077A>G (p.Lys1026Arg) c.3488A>G (p.Lys1163Arg) c.*3130A>G (n.*3130A>G) n.3513A>G c.151+6729A>G (n.151+6729A>G) c.633A>G (n.633A>G) c.944A>G (p.Lys315Arg) c.3410A>G (p.Lys1137Arg) c.656-801A>G (n.656-801A>G) c.3341A>G (p.Lys1114Arg) c.3404A>G (p.Lys1135Arg) c.3392A>G (p.Lys1131Arg) | gnomAD v4 |
2 | g.144389683T>G | CA348699365 | ZEB2 | c.*3262A>C (n.*3262A>C) c.2636A>C (p.Lys879Thr) c.3413A>C (p.Lys1138Thr) c.3301A>C (p.Arg1101=) n.3382A>C c.3077A>C (p.Lys1026Thr) c.3488A>C (p.Lys1163Thr) c.*3130A>C (n.*3130A>C) n.3513A>C c.151+6729A>C (n.151+6729A>C) c.633A>C (n.633A>C) c.944A>C (p.Lys315Thr) c.3410A>C (p.Lys1137Thr) c.656-801A>C (n.656-801A>C) c.3341A>C (p.Lys1114Thr) c.3404A>C (p.Lys1135Thr) c.3392A>C (p.Lys1131Thr) | |
2 | g.144389684T>A | CA348699366 | ZEB2 | c.*3261A>T (n.*3261A>T) c.2635A>T (p.Lys879Ter) c.3412A>T (p.Lys1138Ter) c.3300A>T (p.Arg1100Ser) n.3381A>T c.3076A>T (p.Lys1026Ter) c.3487A>T (p.Lys1163Ter) c.*3129A>T (n.*3129A>T) n.3512A>T c.151+6728A>T (n.151+6728A>T) c.632A>T (n.632A>T) c.943A>T (p.Lys315Ter) c.3409A>T (p.Lys1137Ter) c.656-802A>T (n.656-802A>T) c.3340A>T (p.Lys1114Ter) c.3403A>T (p.Lys1135Ter) c.3391A>T (p.Lys1131Ter) | |
2 | g.144389684T>C | CA348699367 | ZEB2 | c.*3261A>G (n.*3261A>G) c.2635A>G (p.Lys879Glu) c.3412A>G (p.Lys1138Glu) c.3300A>G (p.Arg1100=) n.3381A>G c.3076A>G (p.Lys1026Glu) c.3487A>G (p.Lys1163Glu) c.*3129A>G (n.*3129A>G) n.3512A>G c.151+6728A>G (n.151+6728A>G) c.632A>G (n.632A>G) c.943A>G (p.Lys315Glu) c.3409A>G (p.Lys1137Glu) c.656-802A>G (n.656-802A>G) c.3340A>G (p.Lys1114Glu) c.3403A>G (p.Lys1135Glu) c.3391A>G (p.Lys1131Glu) | |
2 | g.144389684T>G | CA348699368 | ZEB2 | c.*3261A>C (n.*3261A>C) c.2635A>C (p.Lys879Gln) c.3412A>C (p.Lys1138Gln) c.3300A>C (p.Arg1100Ser) n.3381A>C c.3076A>C (p.Lys1026Gln) c.3487A>C (p.Lys1163Gln) c.*3129A>C (n.*3129A>C) n.3512A>C c.151+6728A>C (n.151+6728A>C) c.632A>C (n.632A>C) c.943A>C (p.Lys315Gln) c.3409A>C (p.Lys1137Gln) c.656-802A>C (n.656-802A>C) c.3340A>C (p.Lys1114Gln) c.3403A>C (p.Lys1135Gln) c.3391A>C (p.Lys1131Gln) | |
2 | g.144389685C>A | CA348699369 | ZEB2 | c.*3260G>T (n.*3260G>T) c.2634G>T (p.Glu878Asp) c.3411G>T (p.Glu1137Asp) c.3299G>T (p.Arg1100Ile) n.3380G>T c.3075G>T (p.Glu1025Asp) c.3486G>T (p.Glu1162Asp) c.*3128G>T (n.*3128G>T) n.3511G>T c.151+6727G>T (n.151+6727G>T) c.631G>T (n.631G>T) c.942G>T (p.Glu314Asp) c.3408G>T (p.Glu1136Asp) c.656-803G>T (n.656-803G>T) c.3339G>T (p.Glu1113Asp) c.3402G>T (p.Glu1134Asp) c.3390G>T (p.Glu1130Asp) | |
2 | g.144389685C>G | CA348699370 | ZEB2 | c.*3260G>C (n.*3260G>C) c.2634G>C (p.Glu878Asp) c.3411G>C (p.Glu1137Asp) c.3299G>C (p.Arg1100Thr) n.3380G>C c.3075G>C (p.Glu1025Asp) c.3486G>C (p.Glu1162Asp) c.*3128G>C (n.*3128G>C) n.3511G>C c.151+6727G>C (n.151+6727G>C) c.631G>C (n.631G>C) c.942G>C (p.Glu314Asp) c.3408G>C (p.Glu1136Asp) c.656-803G>C (n.656-803G>C) c.3339G>C (p.Glu1113Asp) c.3402G>C (p.Glu1134Asp) c.3390G>C (p.Glu1130Asp) | |
2 | g.144389685C>T | CA429441147 | ZEB2 | c.*3260G>A (n.*3260G>A) c.2634G>A (p.Glu878=) c.3411G>A (p.Glu1137=) c.3299G>A (p.Arg1100Lys) n.3380G>A c.3075G>A (p.Glu1025=) c.3486G>A (p.Glu1162=) c.*3128G>A (n.*3128G>A) n.3511G>A c.151+6727G>A (n.151+6727G>A) c.631G>A (n.631G>A) c.942G>A (p.Glu314=) c.3408G>A (p.Glu1136=) c.656-803G>A (n.656-803G>A) c.3339G>A (p.Glu1113=) c.3402G>A (p.Glu1134=) c.3390G>A (p.Glu1130=) | |
2 | g.144389686T>A | CA348699371 | ZEB2 | c.*3259A>T (n.*3259A>T) c.2633A>T (p.Glu878Val) c.3410A>T (p.Glu1137Val) c.3298A>T (p.Arg1100Ter) n.3379A>T c.3074A>T (p.Glu1025Val) c.3485A>T (p.Glu1162Val) c.*3127A>T (n.*3127A>T) n.3510A>T c.151+6726A>T (n.151+6726A>T) c.630A>T (n.630A>T) c.941A>T (p.Glu314Val) c.3407A>T (p.Glu1136Val) c.656-804A>T (n.656-804A>T) c.3338A>T (p.Glu1113Val) c.3401A>T (p.Glu1134Val) c.3389A>T (p.Glu1130Val) | |
2 | g.144389686T>C | CA348699372 | ZEB2 | c.*3259A>G (n.*3259A>G) c.2633A>G (p.Glu878Gly) c.3410A>G (p.Glu1137Gly) c.3298A>G (p.Arg1100Gly) n.3379A>G c.3074A>G (p.Glu1025Gly) c.3485A>G (p.Glu1162Gly) c.*3127A>G (n.*3127A>G) n.3510A>G c.151+6726A>G (n.151+6726A>G) c.630A>G (n.630A>G) c.941A>G (p.Glu314Gly) c.3407A>G (p.Glu1136Gly) c.656-804A>G (n.656-804A>G) c.3338A>G (p.Glu1113Gly) c.3401A>G (p.Glu1134Gly) c.3389A>G (p.Glu1130Gly) | ClinVar gnomAD v4 |
2 | g.144389686T>G | CA348699373 | ZEB2 | c.*3259A>C (n.*3259A>C) c.2633A>C (p.Glu878Ala) c.3410A>C (p.Glu1137Ala) c.3298A>C (p.Arg1100=) n.3379A>C c.3074A>C (p.Glu1025Ala) c.3485A>C (p.Glu1162Ala) c.*3127A>C (n.*3127A>C) n.3510A>C c.151+6726A>C (n.151+6726A>C) c.630A>C (n.630A>C) c.941A>C (p.Glu314Ala) c.3407A>C (p.Glu1136Ala) c.656-804A>C (n.656-804A>C) c.3338A>C (p.Glu1113Ala) c.3401A>C (p.Glu1134Ala) c.3389A>C (p.Glu1130Ala) | |
2 | g.144389687C>A | CA348699374 | ZEB2 | c.*3258G>T (n.*3258G>T) c.2632G>T (p.Glu878Ter) c.3409G>T (p.Glu1137Ter) c.3297G>T (p.Ala1099=) n.3378G>T c.3073G>T (p.Glu1025Ter) c.3484G>T (p.Glu1162Ter) c.*3126G>T (n.*3126G>T) n.3509G>T c.151+6725G>T (n.151+6725G>T) c.629G>T (n.629G>T) c.940G>T (p.Glu314Ter) c.3406G>T (p.Glu1136Ter) c.656-805G>T (n.656-805G>T) c.3337G>T (p.Glu1113Ter) c.3400G>T (p.Glu1134Ter) c.3388G>T (p.Glu1130Ter) | |
2 | g.144389687C= | CA1294881299 | ZEB2 | c.*3258G= (n.*3258G=) c.2632G= (p.Glu878=) c.3409G= (p.Glu1137=) c.3297G= (p.Ala1099=) n.3378G= c.3073G= (p.Glu1025=) c.3484G= (p.Glu1162=) c.*3126G= (n.*3126G=) n.3509G= c.151+6725G= (n.151+6725G=) c.629G= (n.629G=) c.940G= (p.Glu314=) c.3406G= (p.Glu1136=) c.656-805G= (n.656-805G=) c.3337G= (p.Glu1113=) c.3400G= (p.Glu1134=) c.3388G= (p.Glu1130=) | |
2 | g.144389687C>G | CA348699375 | ZEB2 | c.*3258G>C (n.*3258G>C) c.2632G>C (p.Glu878Gln) c.3409G>C (p.Glu1137Gln) c.3297G>C (p.Ala1099=) n.3378G>C c.3073G>C (p.Glu1025Gln) c.3484G>C (p.Glu1162Gln) c.*3126G>C (n.*3126G>C) n.3509G>C c.151+6725G>C (n.151+6725G>C) c.629G>C (n.629G>C) c.940G>C (p.Glu314Gln) c.3406G>C (p.Glu1136Gln) c.656-805G>C (n.656-805G>C) c.3337G>C (p.Glu1113Gln) c.3400G>C (p.Glu1134Gln) c.3388G>C (p.Glu1130Gln) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
2 | g.144389687C>T | CA297623 | ZEB2 | c.*3258G>A (n.*3258G>A) c.2632G>A (p.Glu878Lys) c.3409G>A (p.Glu1137Lys) c.3297G>A (p.Ala1099=) n.3378G>A c.3073G>A (p.Glu1025Lys) c.3484G>A (p.Glu1162Lys) c.*3126G>A (n.*3126G>A) n.3509G>A c.151+6725G>A (n.151+6725G>A) c.629G>A (n.629G>A) c.940G>A (p.Glu314Lys) c.3406G>A (p.Glu1136Lys) c.656-805G>A (n.656-805G>A) c.3337G>A (p.Glu1113Lys) c.3400G>A (p.Glu1134Lys) c.3388G>A (p.Glu1130Lys) | ClinVar dbSNP gnomAD v4 |
2 | g.144389688G>A | CA429441148 | ZEB2 | c.*3257C>T (n.*3257C>T) c.2631C>T (p.Ser877=) c.3408C>T (p.Ser1136=) c.3296C>T (p.Ala1099Val) n.3377C>T c.3072C>T (p.Ser1024=) c.3483C>T (p.Ser1161=) c.*3125C>T (n.*3125C>T) n.3508C>T c.151+6724C>T (n.151+6724C>T) c.628C>T (n.628C>T) c.939C>T (p.Ser313=) c.3405C>T (p.Ser1135=) c.656-806C>T (n.656-806C>T) c.3336C>T (p.Ser1112=) c.3399C>T (p.Ser1133=) c.3387C>T (p.Ser1129=) | COSMIC |
2 | g.144389688G>C | CA16610248 | ZEB2 | c.*3257C>G (n.*3257C>G) c.2631C>G (p.Ser877Arg) c.3408C>G (p.Ser1136Arg) c.3296C>G (p.Ala1099Gly) n.3377C>G c.3072C>G (p.Ser1024Arg) c.3483C>G (p.Ser1161Arg) c.*3125C>G (n.*3125C>G) n.3508C>G c.151+6724C>G (n.151+6724C>G) c.628C>G (n.628C>G) c.939C>G (p.Ser313Arg) c.3405C>G (p.Ser1135Arg) c.656-806C>G (n.656-806C>G) c.3336C>G (p.Ser1112Arg) c.3399C>G (p.Ser1133Arg) c.3387C>G (p.Ser1129Arg) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.144389688G= | CA1294881300 | ZEB2 | c.*3257C= (n.*3257C=) c.2631C= (p.Ser877=) c.3408C= (p.Ser1136=) c.3296C= (p.Ala1099=) n.3377C= c.3072C= (p.Ser1024=) c.3483C= (p.Ser1161=) c.*3125C= (n.*3125C=) n.3508C= c.151+6724C= (n.151+6724C=) c.628C= (n.628C=) c.939C= (p.Ser313=) c.3405C= (p.Ser1135=) c.656-806C= (n.656-806C=) c.3336C= (p.Ser1112=) c.3399C= (p.Ser1133=) c.3387C= (p.Ser1129=) | |
2 | g.144389688G>T | CA348699376 | ZEB2 | c.*3257C>A (n.*3257C>A) c.2631C>A (p.Ser877Arg) c.3408C>A (p.Ser1136Arg) c.3296C>A (p.Ala1099Glu) n.3377C>A c.3072C>A (p.Ser1024Arg) c.3483C>A (p.Ser1161Arg) c.*3125C>A (n.*3125C>A) n.3508C>A c.151+6724C>A (n.151+6724C>A) c.628C>A (n.628C>A) c.939C>A (p.Ser313Arg) c.3405C>A (p.Ser1135Arg) c.656-806C>A (n.656-806C>A) c.3336C>A (p.Ser1112Arg) c.3399C>A (p.Ser1133Arg) c.3387C>A (p.Ser1129Arg) | |
2 | g.144389689C>A | CA348699377 | ZEB2 | c.*3256G>T (n.*3256G>T) c.2630G>T (p.Ser877Ile) c.3407G>T (p.Ser1136Ile) c.3295G>T (p.Ala1099Ser) n.3376G>T c.3071G>T (p.Ser1024Ile) c.3482G>T (p.Ser1161Ile) c.*3124G>T (n.*3124G>T) n.3507G>T c.151+6723G>T (n.151+6723G>T) c.627G>T (n.627G>T) c.938G>T (p.Ser313Ile) c.3404G>T (p.Ser1135Ile) c.656-807G>T (n.656-807G>T) c.3335G>T (p.Ser1112Ile) c.3398G>T (p.Ser1133Ile) c.3386G>T (p.Ser1129Ile) | |
2 | g.144389689C>G | CA348699378 | ZEB2 | c.*3256G>C (n.*3256G>C) c.2630G>C (p.Ser877Thr) c.3407G>C (p.Ser1136Thr) c.3295G>C (p.Ala1099Pro) n.3376G>C c.3071G>C (p.Ser1024Thr) c.3482G>C (p.Ser1161Thr) c.*3124G>C (n.*3124G>C) n.3507G>C c.151+6723G>C (n.151+6723G>C) c.627G>C (n.627G>C) c.938G>C (p.Ser313Thr) c.3404G>C (p.Ser1135Thr) c.656-807G>C (n.656-807G>C) c.3335G>C (p.Ser1112Thr) c.3398G>C (p.Ser1133Thr) c.3386G>C (p.Ser1129Thr) | |
2 | g.144389689C>T | CA348699379 | ZEB2 | c.*3256G>A (n.*3256G>A) c.2630G>A (p.Ser877Asn) c.3407G>A (p.Ser1136Asn) c.3295G>A (p.Ala1099Thr) n.3376G>A c.3071G>A (p.Ser1024Asn) c.3482G>A (p.Ser1161Asn) c.*3124G>A (n.*3124G>A) n.3507G>A c.151+6723G>A (n.151+6723G>A) c.627G>A (n.627G>A) c.938G>A (p.Ser313Asn) c.3404G>A (p.Ser1135Asn) c.656-807G>A (n.656-807G>A) c.3335G>A (p.Ser1112Asn) c.3398G>A (p.Ser1133Asn) c.3386G>A (p.Ser1129Asn) | |
2 | g.144389690T>A | CA348699380 | ZEB2 | c.*3255A>T (n.*3255A>T) c.2629A>T (p.Ser877Cys) c.3406A>T (p.Ser1136Cys) c.3294A>T (p.Arg1098Ser) n.3375A>T c.3070A>T (p.Ser1024Cys) c.3481A>T (p.Ser1161Cys) c.*3123A>T (n.*3123A>T) n.3506A>T c.151+6722A>T (n.151+6722A>T) c.626A>T (n.626A>T) c.937A>T (p.Ser313Cys) c.3403A>T (p.Ser1135Cys) c.656-808A>T (n.656-808A>T) c.3334A>T (p.Ser1112Cys) c.3397A>T (p.Ser1133Cys) c.3385A>T (p.Ser1129Cys) | |
2 | g.144389690T>C | CA348699381 | ZEB2 | c.*3255A>G (n.*3255A>G) c.2629A>G (p.Ser877Gly) c.3406A>G (p.Ser1136Gly) c.3294A>G (p.Arg1098=) n.3375A>G c.3070A>G (p.Ser1024Gly) c.3481A>G (p.Ser1161Gly) c.*3123A>G (n.*3123A>G) n.3506A>G c.151+6722A>G (n.151+6722A>G) c.626A>G (n.626A>G) c.937A>G (p.Ser313Gly) c.3403A>G (p.Ser1135Gly) c.656-808A>G (n.656-808A>G) c.3334A>G (p.Ser1112Gly) c.3397A>G (p.Ser1133Gly) c.3385A>G (p.Ser1129Gly) | |
2 | g.144389690T>G | CA348699382 | ZEB2 | c.*3255A>C (n.*3255A>C) c.2629A>C (p.Ser877Arg) c.3406A>C (p.Ser1136Arg) c.3294A>C (p.Arg1098Ser) n.3375A>C c.3070A>C (p.Ser1024Arg) c.3481A>C (p.Ser1161Arg) c.*3123A>C (n.*3123A>C) n.3506A>C c.151+6722A>C (n.151+6722A>C) c.626A>C (n.626A>C) c.937A>C (p.Ser313Arg) c.3403A>C (p.Ser1135Arg) c.656-808A>C (n.656-808A>C) c.3334A>C (p.Ser1112Arg) c.3397A>C (p.Ser1133Arg) c.3385A>C (p.Ser1129Arg) | |
2 | g.144389691C>A | CA348699383 | ZEB2 | c.*3254G>T (n.*3254G>T) c.2628G>T (p.Glu876Asp) c.3405G>T (p.Glu1135Asp) c.3293G>T (p.Arg1098Ile) n.3374G>T c.3069G>T (p.Glu1023Asp) c.3480G>T (p.Glu1160Asp) c.*3122G>T (n.*3122G>T) n.3505G>T c.151+6721G>T (n.151+6721G>T) c.625G>T (n.625G>T) c.936G>T (p.Glu312Asp) c.3402G>T (p.Glu1134Asp) c.656-809G>T (n.656-809G>T) c.3333G>T (p.Glu1111Asp) c.3396G>T (p.Glu1132Asp) c.3384G>T (p.Glu1128Asp) | gnomAD v4 |
2 | g.144389691C= | CA1294881301 | ZEB2 | c.*3254G= (n.*3254G=) c.2628G= (p.Glu876=) c.3405G= (p.Glu1135=) c.3293G= (p.Arg1098=) n.3374G= c.3069G= (p.Glu1023=) c.3480G= (p.Glu1160=) c.*3122G= (n.*3122G=) n.3505G= c.151+6721G= (n.151+6721G=) c.625G= (n.625G=) c.936G= (p.Glu312=) c.3402G= (p.Glu1134=) c.656-809G= (n.656-809G=) c.3333G= (p.Glu1111=) c.3396G= (p.Glu1132=) c.3384G= (p.Glu1128=) | |
2 | g.144389691C>G | CA348699384 | ZEB2 | c.*3254G>C (n.*3254G>C) c.2628G>C (p.Glu876Asp) c.3405G>C (p.Glu1135Asp) c.3293G>C (p.Arg1098Thr) n.3374G>C c.3069G>C (p.Glu1023Asp) c.3480G>C (p.Glu1160Asp) c.*3122G>C (n.*3122G>C) n.3505G>C c.151+6721G>C (n.151+6721G>C) c.625G>C (n.625G>C) c.936G>C (p.Glu312Asp) c.3402G>C (p.Glu1134Asp) c.656-809G>C (n.656-809G>C) c.3333G>C (p.Glu1111Asp) c.3396G>C (p.Glu1132Asp) c.3384G>C (p.Glu1128Asp) | dbSNP |
2 | g.144389691C>T | CA429441149 | ZEB2 | c.*3254G>A (n.*3254G>A) c.2628G>A (p.Glu876=) c.3405G>A (p.Glu1135=) c.3293G>A (p.Arg1098Lys) n.3374G>A c.3069G>A (p.Glu1023=) c.3480G>A (p.Glu1160=) c.*3122G>A (n.*3122G>A) n.3505G>A c.151+6721G>A (n.151+6721G>A) c.625G>A (n.625G>A) c.936G>A (p.Glu312=) c.3402G>A (p.Glu1134=) c.656-809G>A (n.656-809G>A) c.3333G>A (p.Glu1111=) c.3396G>A (p.Glu1132=) c.3384G>A (p.Glu1128=) | gnomAD v4 |
2 | g.144389692T>A | CA348699386 | ZEB2 | c.*3253A>T (n.*3253A>T) c.2627A>T (p.Glu876Val) c.3404A>T (p.Glu1135Val) c.3292A>T (p.Arg1098Ter) n.3373A>T c.3068A>T (p.Glu1023Val) c.3479A>T (p.Glu1160Val) c.*3121A>T (n.*3121A>T) n.3504A>T c.151+6720A>T (n.151+6720A>T) c.624A>T (n.624A>T) c.935A>T (p.Glu312Val) c.3401A>T (p.Glu1134Val) c.656-810A>T (n.656-810A>T) c.3332A>T (p.Glu1111Val) c.3395A>T (p.Glu1132Val) c.3383A>T (p.Glu1128Val) | |
2 | g.144389692T>C | CA348699387 | ZEB2 | c.*3253A>G (n.*3253A>G) c.2627A>G (p.Glu876Gly) c.3404A>G (p.Glu1135Gly) c.3292A>G (p.Arg1098Gly) n.3373A>G c.3068A>G (p.Glu1023Gly) c.3479A>G (p.Glu1160Gly) c.*3121A>G (n.*3121A>G) n.3504A>G c.151+6720A>G (n.151+6720A>G) c.624A>G (n.624A>G) c.935A>G (p.Glu312Gly) c.3401A>G (p.Glu1134Gly) c.656-810A>G (n.656-810A>G) c.3332A>G (p.Glu1111Gly) c.3395A>G (p.Glu1132Gly) c.3383A>G (p.Glu1128Gly) | |
2 | g.144389692T>G | CA348699385 | ZEB2 | c.*3253A>C (n.*3253A>C) c.2627A>C (p.Glu876Ala) c.3404A>C (p.Glu1135Ala) c.3292A>C (p.Arg1098=) n.3373A>C c.3068A>C (p.Glu1023Ala) c.3479A>C (p.Glu1160Ala) c.*3121A>C (n.*3121A>C) n.3504A>C c.151+6720A>C (n.151+6720A>C) c.624A>C (n.624A>C) c.935A>C (p.Glu312Ala) c.3401A>C (p.Glu1134Ala) c.656-810A>C (n.656-810A>C) c.3332A>C (p.Glu1111Ala) c.3395A>C (p.Glu1132Ala) c.3383A>C (p.Glu1128Ala) | |
2 | g.144389693C>A | CA348699388 | ZEB2 | c.*3252G>T (n.*3252G>T) c.2626G>T (p.Glu876Ter) c.3403G>T (p.Glu1135Ter) c.3291G>T (p.Ala1097=) n.3372G>T c.3067G>T (p.Glu1023Ter) c.3478G>T (p.Glu1160Ter) c.*3120G>T (n.*3120G>T) n.3503G>T c.151+6719G>T (n.151+6719G>T) c.623G>T (n.623G>T) c.934G>T (p.Glu312Ter) c.3400G>T (p.Glu1134Ter) c.656-811G>T (n.656-811G>T) c.3331G>T (p.Glu1111Ter) c.3394G>T (p.Glu1132Ter) c.3382G>T (p.Glu1128Ter) | |
2 | g.144389693C>G | CA348699389 | ZEB2 | c.*3252G>C (n.*3252G>C) c.2626G>C (p.Glu876Gln) c.3403G>C (p.Glu1135Gln) c.3291G>C (p.Ala1097=) n.3372G>C c.3067G>C (p.Glu1023Gln) c.3478G>C (p.Glu1160Gln) c.*3120G>C (n.*3120G>C) n.3503G>C c.151+6719G>C (n.151+6719G>C) c.623G>C (n.623G>C) c.934G>C (p.Glu312Gln) c.3400G>C (p.Glu1134Gln) c.656-811G>C (n.656-811G>C) c.3331G>C (p.Glu1111Gln) c.3394G>C (p.Glu1132Gln) c.3382G>C (p.Glu1128Gln) | |
2 | g.144389693C>T | CA348699390 | ZEB2 | c.*3252G>A (n.*3252G>A) c.2626G>A (p.Glu876Lys) c.3403G>A (p.Glu1135Lys) c.3291G>A (p.Ala1097=) n.3372G>A c.3067G>A (p.Glu1023Lys) c.3478G>A (p.Glu1160Lys) c.*3120G>A (n.*3120G>A) n.3503G>A c.151+6719G>A (n.151+6719G>A) c.623G>A (n.623G>A) c.934G>A (p.Glu312Lys) c.3400G>A (p.Glu1134Lys) c.656-811G>A (n.656-811G>A) c.3331G>A (p.Glu1111Lys) c.3394G>A (p.Glu1132Lys) c.3382G>A (p.Glu1128Lys) | COSMIC |
2 | g.144389694G>A | CA429441151 | ZEB2 | c.*3251C>T (n.*3251C>T) c.2625C>T (p.Gly875=) c.3402C>T (p.Gly1134=) c.3290C>T (p.Ala1097Val) n.3371C>T c.3066C>T (p.Gly1022=) c.3477C>T (p.Gly1159=) c.*3119C>T (n.*3119C>T) n.3502C>T c.151+6718C>T (n.151+6718C>T) c.622C>T (n.622C>T) c.933C>T (p.Gly311=) c.3399C>T (p.Gly1133=) c.656-812C>T (n.656-812C>T) c.3330C>T (p.Gly1110=) c.3393C>T (p.Gly1131=) c.3381C>T (p.Gly1127=) | ClinVar |
2 | g.144389694G>C | CA429441152 | ZEB2 | c.*3251C>G (n.*3251C>G) c.2625C>G (p.Gly875=) c.3402C>G (p.Gly1134=) c.3290C>G (p.Ala1097Gly) n.3371C>G c.3066C>G (p.Gly1022=) c.3477C>G (p.Gly1159=) c.*3119C>G (n.*3119C>G) n.3502C>G c.151+6718C>G (n.151+6718C>G) c.622C>G (n.622C>G) c.933C>G (p.Gly311=) c.3399C>G (p.Gly1133=) c.656-812C>G (n.656-812C>G) c.3330C>G (p.Gly1110=) c.3393C>G (p.Gly1131=) c.3381C>G (p.Gly1127=) | |
2 | g.144389694G= | CA1294881302 | ZEB2 | c.*3251C= (n.*3251C=) c.2625C= (p.Gly875=) c.3402C= (p.Gly1134=) c.3290C= (p.Ala1097=) n.3371C= c.3066C= (p.Gly1022=) c.3477C= (p.Gly1159=) c.*3119C= (n.*3119C=) n.3502C= c.151+6718C= (n.151+6718C=) c.622C= (n.622C=) c.933C= (p.Gly311=) c.3399C= (p.Gly1133=) c.656-812C= (n.656-812C=) c.3330C= (p.Gly1110=) c.3393C= (p.Gly1131=) c.3381C= (p.Gly1127=) | |
2 | g.144389694G>T | CA1898121 | ZEB2 | c.*3251C>A (n.*3251C>A) c.2625C>A (p.Gly875=) c.3402C>A (p.Gly1134=) c.3290C>A (p.Ala1097Glu) n.3371C>A c.3066C>A (p.Gly1022=) c.3477C>A (p.Gly1159=) c.*3119C>A (n.*3119C>A) n.3502C>A c.151+6718C>A (n.151+6718C>A) c.622C>A (n.622C>A) c.933C>A (p.Gly311=) c.3399C>A (p.Gly1133=) c.656-812C>A (n.656-812C>A) c.3330C>A (p.Gly1110=) c.3393C>A (p.Gly1131=) c.3381C>A (p.Gly1127=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.144389695C>A | CA348699391 | ZEB2 | c.*3250G>T (n.*3250G>T) c.2624G>T (p.Gly875Val) c.3401G>T (p.Gly1134Val) c.3289G>T (p.Ala1097Ser) n.3370G>T c.3065G>T (p.Gly1022Val) c.3476G>T (p.Gly1159Val) c.*3118G>T (n.*3118G>T) n.3501G>T c.151+6717G>T (n.151+6717G>T) c.621G>T (n.621G>T) c.932G>T (p.Gly311Val) c.3398G>T (p.Gly1133Val) c.656-813G>T (n.656-813G>T) c.3329G>T (p.Gly1110Val) c.3392G>T (p.Gly1131Val) c.3380G>T (p.Gly1127Val) | |
2 | g.144389695C>G | CA348699392 | ZEB2 | c.*3250G>C (n.*3250G>C) c.2624G>C (p.Gly875Ala) c.3401G>C (p.Gly1134Ala) c.3289G>C (p.Ala1097Pro) n.3370G>C c.3065G>C (p.Gly1022Ala) c.3476G>C (p.Gly1159Ala) c.*3118G>C (n.*3118G>C) n.3501G>C c.151+6717G>C (n.151+6717G>C) c.621G>C (n.621G>C) c.932G>C (p.Gly311Ala) c.3398G>C (p.Gly1133Ala) c.656-813G>C (n.656-813G>C) c.3329G>C (p.Gly1110Ala) c.3392G>C (p.Gly1131Ala) c.3380G>C (p.Gly1127Ala) | |
2 | g.144389695C>T | CA348699393 | ZEB2 | c.*3250G>A (n.*3250G>A) c.2624G>A (p.Gly875Asp) c.3401G>A (p.Gly1134Asp) c.3289G>A (p.Ala1097Thr) n.3370G>A c.3065G>A (p.Gly1022Asp) c.3476G>A (p.Gly1159Asp) c.*3118G>A (n.*3118G>A) n.3501G>A c.151+6717G>A (n.151+6717G>A) c.621G>A (n.621G>A) c.932G>A (p.Gly311Asp) c.3398G>A (p.Gly1133Asp) c.656-813G>A (n.656-813G>A) c.3329G>A (p.Gly1110Asp) c.3392G>A (p.Gly1131Asp) c.3380G>A (p.Gly1127Asp) | gnomAD v4 |
2 | g.144389695_144389705delinsCCATCCCTCGG | CA1294881303 | ZEB2 | c.*3240_*3250delinsCCGAGGGATGG (n.*3240_*3250delinsCCGAGGGATGG) c.2614_2624delinsCCGAGGGATGG (p.Pro872=) c.3391_3401delinsCCGAGGGATGG (p.Pro1131=) c.3279_3289delinsCCGAGGGATGG (p.Cys1093=) n.3360_3370delinsCCGAGGGATGG c.3055_3065delinsCCGAGGGATGG (p.Pro1019=) c.3466_3476delinsCCGAGGGATGG (p.Pro1156=) c.*3108_*3118delinsCCGAGGGATGG (n.*3108_*3118delinsCCGAGGGATGG) n.3491_3501delinsCCGAGGGATGG c.151+6707_151+6717delinsCCGAGGGATGG (n.151+6707_151+6717delinsCCGAGGGATGG) c.611_621delinsCCGAGGGATGG (n.611_621delinsCCGAGGGATGG) c.922_932delinsCCGAGGGATGG (p.Pro308=) c.3388_3398delinsCCGAGGGATGG (p.Pro1130=) c.656-823_656-813delinsCCGAGGGATGG (n.656-823_656-813delinsCCGAGGGATGG) c.3319_3329delinsCCGAGGGATGG (p.Pro1107=) c.3382_3392delinsCCGAGGGATGG (p.Pro1128=) c.3370_3380delinsCCGAGGGATGG (p.Pro1124=) | |
2 | g.144389696C>A | CA348699394 | ZEB2 | c.*3249G>T (n.*3249G>T) c.2623G>T (p.Gly875Cys) c.3400G>T (p.Gly1134Cys) c.3288G>T (p.Met1096Ile) n.3369G>T c.3064G>T (p.Gly1022Cys) c.3475G>T (p.Gly1159Cys) c.*3117G>T (n.*3117G>T) n.3500G>T c.151+6716G>T (n.151+6716G>T) c.620G>T (n.620G>T) c.931G>T (p.Gly311Cys) c.3397G>T (p.Gly1133Cys) c.656-814G>T (n.656-814G>T) c.3328G>T (p.Gly1110Cys) c.3391G>T (p.Gly1131Cys) c.3379G>T (p.Gly1127Cys) | |
2 | g.144389696C= | CA1294881304 | ZEB2 | c.*3249G= (n.*3249G=) c.2623G= (p.Gly875=) c.3400G= (p.Gly1134=) c.3288G= (p.Met1096=) n.3369G= c.3064G= (p.Gly1022=) c.3475G= (p.Gly1159=) c.*3117G= (n.*3117G=) n.3500G= c.151+6716G= (n.151+6716G=) c.620G= (n.620G=) c.931G= (p.Gly311=) c.3397G= (p.Gly1133=) c.656-814G= (n.656-814G=) c.3328G= (p.Gly1110=) c.3391G= (p.Gly1131=) c.3379G= (p.Gly1127=) | |
2 | g.144389696C>G | CA348699395 | ZEB2 | c.*3249G>C (n.*3249G>C) c.2623G>C (p.Gly875Arg) c.3400G>C (p.Gly1134Arg) c.3288G>C (p.Met1096Ile) n.3369G>C c.3064G>C (p.Gly1022Arg) c.3475G>C (p.Gly1159Arg) c.*3117G>C (n.*3117G>C) n.3500G>C c.151+6716G>C (n.151+6716G>C) c.620G>C (n.620G>C) c.931G>C (p.Gly311Arg) c.3397G>C (p.Gly1133Arg) c.656-814G>C (n.656-814G>C) c.3328G>C (p.Gly1110Arg) c.3391G>C (p.Gly1131Arg) c.3379G>C (p.Gly1127Arg) | |
2 | g.144389696C>T | CA348699396 | ZEB2 | c.*3249G>A (n.*3249G>A) c.2623G>A (p.Gly875Ser) c.3400G>A (p.Gly1134Ser) c.3288G>A (p.Met1096Ile) n.3369G>A c.3064G>A (p.Gly1022Ser) c.3475G>A (p.Gly1159Ser) c.*3117G>A (n.*3117G>A) n.3500G>A c.151+6716G>A (n.151+6716G>A) c.620G>A (n.620G>A) c.931G>A (p.Gly311Ser) c.3397G>A (p.Gly1133Ser) c.656-814G>A (n.656-814G>A) c.3328G>A (p.Gly1110Ser) c.3391G>A (p.Gly1131Ser) c.3379G>A (p.Gly1127Ser) | ClinVar dbSNP |
2 | g.144389699_144389708del | CA274525 | ZEB2 | c.*3240_*3249del (n.*3240_*3249del) c.2614_2623del (p.Pro872AlafsTer?) c.3391_3400del (p.Pro1131AlafsTer?) c.3279_3288del (p.Cys1093TrpfsTer?) n.3360_3369del c.3055_3064del (p.Pro1019AlafsTer?) c.3466_3475del (p.Pro1156AlafsTer?) c.*3108_*3117del (n.*3108_*3117del) n.3491_3500del c.151+6707_151+6716del (n.151+6707_151+6716del) c.611_620del (n.611_620del) c.922_931del (p.Pro308AlafsTer?) c.3388_3397del (p.Pro1130AlafsTer?) c.656-823_656-814del (n.656-823_656-814del) c.3319_3328del (p.Pro1107AlafsTer?) c.3382_3391del (p.Pro1128AlafsTer?) c.3370_3379del (p.Pro1124AlafsTer?) | ClinVar dbSNP |
2 | g.144389697A>C | CA348699397 | ZEB2 | c.*3248T>G (n.*3248T>G) c.2622T>G (p.Asp874Glu) c.3399T>G (p.Asp1133Glu) c.3287T>G (p.Met1096Arg) n.3368T>G c.3063T>G (p.Asp1021Glu) c.3474T>G (p.Asp1158Glu) c.*3116T>G (n.*3116T>G) n.3499T>G c.151+6715T>G (n.151+6715T>G) c.619T>G (n.619T>G) c.930T>G (p.Asp310Glu) c.3396T>G (p.Asp1132Glu) c.656-815T>G (n.656-815T>G) c.3327T>G (p.Asp1109Glu) c.3390T>G (p.Asp1130Glu) c.3378T>G (p.Asp1126Glu) | |
2 | g.144389697A>G | CA429441153 | ZEB2 | c.*3248T>C (n.*3248T>C) c.2622T>C (p.Asp874=) c.3399T>C (p.Asp1133=) c.3287T>C (p.Met1096Thr) n.3368T>C c.3063T>C (p.Asp1021=) c.3474T>C (p.Asp1158=) c.*3116T>C (n.*3116T>C) n.3499T>C c.151+6715T>C (n.151+6715T>C) c.619T>C (n.619T>C) c.930T>C (p.Asp310=) c.3396T>C (p.Asp1132=) c.656-815T>C (n.656-815T>C) c.3327T>C (p.Asp1109=) c.3390T>C (p.Asp1130=) c.3378T>C (p.Asp1126=) | |
2 | g.144389697A>T | CA348699398 | ZEB2 | c.*3248T>A (n.*3248T>A) c.2622T>A (p.Asp874Glu) c.3399T>A (p.Asp1133Glu) c.3287T>A (p.Met1096Lys) n.3368T>A c.3063T>A (p.Asp1021Glu) c.3474T>A (p.Asp1158Glu) c.*3116T>A (n.*3116T>A) n.3499T>A c.151+6715T>A (n.151+6715T>A) c.619T>A (n.619T>A) c.930T>A (p.Asp310Glu) c.3396T>A (p.Asp1132Glu) c.656-815T>A (n.656-815T>A) c.3327T>A (p.Asp1109Glu) c.3390T>A (p.Asp1130Glu) c.3378T>A (p.Asp1126Glu) | |
2 | g.144389698T>A | CA348699401 | ZEB2 | c.*3247A>T (n.*3247A>T) c.2621A>T (p.Asp874Val) c.3398A>T (p.Asp1133Val) c.3286A>T (p.Met1096Leu) n.3367A>T c.3062A>T (p.Asp1021Val) c.3473A>T (p.Asp1158Val) c.*3115A>T (n.*3115A>T) n.3498A>T c.151+6714A>T (n.151+6714A>T) c.618A>T (n.618A>T) c.929A>T (p.Asp310Val) c.3395A>T (p.Asp1132Val) c.656-816A>T (n.656-816A>T) c.3326A>T (p.Asp1109Val) c.3389A>T (p.Asp1130Val) c.3377A>T (p.Asp1126Val) | |
2 | g.144389698T>C | CA348699400 | ZEB2 | c.*3247A>G (n.*3247A>G) c.2621A>G (p.Asp874Gly) c.3398A>G (p.Asp1133Gly) c.3286A>G (p.Met1096Val) n.3367A>G c.3062A>G (p.Asp1021Gly) c.3473A>G (p.Asp1158Gly) c.*3115A>G (n.*3115A>G) n.3498A>G c.151+6714A>G (n.151+6714A>G) c.618A>G (n.618A>G) c.929A>G (p.Asp310Gly) c.3395A>G (p.Asp1132Gly) c.656-816A>G (n.656-816A>G) c.3326A>G (p.Asp1109Gly) c.3389A>G (p.Asp1130Gly) c.3377A>G (p.Asp1126Gly) | |
2 | g.144389698T>G | CA348699399 | ZEB2 | c.*3247A>C (n.*3247A>C) c.2621A>C (p.Asp874Ala) c.3398A>C (p.Asp1133Ala) c.3286A>C (p.Met1096Leu) n.3367A>C c.3062A>C (p.Asp1021Ala) c.3473A>C (p.Asp1158Ala) c.*3115A>C (n.*3115A>C) n.3498A>C c.151+6714A>C (n.151+6714A>C) c.618A>C (n.618A>C) c.929A>C (p.Asp310Ala) c.3395A>C (p.Asp1132Ala) c.656-816A>C (n.656-816A>C) c.3326A>C (p.Asp1109Ala) c.3389A>C (p.Asp1130Ala) c.3377A>C (p.Asp1126Ala) | |
2 | g.144389699C>A | CA348699402 | ZEB2 | c.*3246G>T (n.*3246G>T) c.2620G>T (p.Asp874Tyr) c.3397G>T (p.Asp1133Tyr) c.3285G>T (p.Gly1095=) n.3366G>T c.3061G>T (p.Asp1021Tyr) c.3472G>T (p.Asp1158Tyr) c.*3114G>T (n.*3114G>T) n.3497G>T c.151+6713G>T (n.151+6713G>T) c.617G>T (n.617G>T) c.928G>T (p.Asp310Tyr) c.3394G>T (p.Asp1132Tyr) c.656-817G>T (n.656-817G>T) c.3325G>T (p.Asp1109Tyr) c.3388G>T (p.Asp1130Tyr) c.3376G>T (p.Asp1126Tyr) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.144389699C= | CA1294881305 | ZEB2 | c.*3246G= (n.*3246G=) c.2620G= (p.Asp874=) c.3397G= (p.Asp1133=) c.3285G= (p.Gly1095=) n.3366G= c.3061G= (p.Asp1021=) c.3472G= (p.Asp1158=) c.*3114G= (n.*3114G=) n.3497G= c.151+6713G= (n.151+6713G=) c.617G= (n.617G=) c.928G= (p.Asp310=) c.3394G= (p.Asp1132=) c.656-817G= (n.656-817G=) c.3325G= (p.Asp1109=) c.3388G= (p.Asp1130=) c.3376G= (p.Asp1126=) | |
2 | g.144389699C>G | CA348699403 | ZEB2 | c.*3246G>C (n.*3246G>C) c.2620G>C (p.Asp874His) c.3397G>C (p.Asp1133His) c.3285G>C (p.Gly1095=) n.3366G>C c.3061G>C (p.Asp1021His) c.3472G>C (p.Asp1158His) c.*3114G>C (n.*3114G>C) n.3497G>C c.151+6713G>C (n.151+6713G>C) c.617G>C (n.617G>C) c.928G>C (p.Asp310His) c.3394G>C (p.Asp1132His) c.656-817G>C (n.656-817G>C) c.3325G>C (p.Asp1109His) c.3388G>C (p.Asp1130His) c.3376G>C (p.Asp1126His) | |
2 | g.144389699C>T | CA348699404 | ZEB2 | c.*3246G>A (n.*3246G>A) c.2620G>A (p.Asp874Asn) c.3397G>A (p.Asp1133Asn) c.3285G>A (p.Gly1095=) n.3366G>A c.3061G>A (p.Asp1021Asn) c.3472G>A (p.Asp1158Asn) c.*3114G>A (n.*3114G>A) n.3497G>A c.151+6713G>A (n.151+6713G>A) c.617G>A (n.617G>A) c.928G>A (p.Asp310Asn) c.3394G>A (p.Asp1132Asn) c.656-817G>A (n.656-817G>A) c.3325G>A (p.Asp1109Asn) c.3388G>A (p.Asp1130Asn) c.3376G>A (p.Asp1126Asn) | dbSNP |
2 | g.144389700C>A | CA348699405 | ZEB2 | c.*3245G>T (n.*3245G>T) c.2619G>T (p.Arg873Ser) c.3396G>T (p.Arg1132Ser) c.3284G>T (p.Gly1095Val) n.3365G>T c.3060G>T (p.Arg1020Ser) c.3471G>T (p.Arg1157Ser) c.*3113G>T (n.*3113G>T) n.3496G>T c.151+6712G>T (n.151+6712G>T) c.616G>T (n.616G>T) c.927G>T (p.Arg309Ser) c.3393G>T (p.Arg1131Ser) c.656-818G>T (n.656-818G>T) c.3324G>T (p.Arg1108Ser) c.3387G>T (p.Arg1129Ser) c.3375G>T (p.Arg1125Ser) | |
2 | g.144389700C>G | CA348699406 | ZEB2 | c.*3245G>C (n.*3245G>C) c.2619G>C (p.Arg873Ser) c.3396G>C (p.Arg1132Ser) c.3284G>C (p.Gly1095Ala) n.3365G>C c.3060G>C (p.Arg1020Ser) c.3471G>C (p.Arg1157Ser) c.*3113G>C (n.*3113G>C) n.3496G>C c.151+6712G>C (n.151+6712G>C) c.616G>C (n.616G>C) c.927G>C (p.Arg309Ser) c.3393G>C (p.Arg1131Ser) c.656-818G>C (n.656-818G>C) c.3324G>C (p.Arg1108Ser) c.3387G>C (p.Arg1129Ser) c.3375G>C (p.Arg1125Ser) | |
2 | g.144389700C>T | CA429441154 | ZEB2 | c.*3245G>A (n.*3245G>A) c.2619G>A (p.Arg873=) c.3396G>A (p.Arg1132=) c.3284G>A (p.Gly1095Glu) n.3365G>A c.3060G>A (p.Arg1020=) c.3471G>A (p.Arg1157=) c.*3113G>A (n.*3113G>A) n.3496G>A c.151+6712G>A (n.151+6712G>A) c.616G>A (n.616G>A) c.927G>A (p.Arg309=) c.3393G>A (p.Arg1131=) c.656-818G>A (n.656-818G>A) c.3324G>A (p.Arg1108=) c.3387G>A (p.Arg1129=) c.3375G>A (p.Arg1125=) | gnomAD v4 |
2 | g.144389701C>A | CA348699407 | ZEB2 | c.*3244G>T (n.*3244G>T) c.2618G>T (p.Arg873Met) c.3395G>T (p.Arg1132Met) c.3283G>T (p.Gly1095Trp) n.3364G>T c.3059G>T (p.Arg1020Met) c.3470G>T (p.Arg1157Met) c.*3112G>T (n.*3112G>T) n.3495G>T c.151+6711G>T (n.151+6711G>T) c.615G>T (n.615G>T) c.926G>T (p.Arg309Met) c.3392G>T (p.Arg1131Met) c.656-819G>T (n.656-819G>T) c.3323G>T (p.Arg1108Met) c.3386G>T (p.Arg1129Met) c.3374G>T (p.Arg1125Met) | |
2 | g.144389701C>G | CA348699408 | ZEB2 | c.*3244G>C (n.*3244G>C) c.2618G>C (p.Arg873Thr) c.3395G>C (p.Arg1132Thr) c.3283G>C (p.Gly1095Arg) n.3364G>C c.3059G>C (p.Arg1020Thr) c.3470G>C (p.Arg1157Thr) c.*3112G>C (n.*3112G>C) n.3495G>C c.151+6711G>C (n.151+6711G>C) c.615G>C (n.615G>C) c.926G>C (p.Arg309Thr) c.3392G>C (p.Arg1131Thr) c.656-819G>C (n.656-819G>C) c.3323G>C (p.Arg1108Thr) c.3386G>C (p.Arg1129Thr) c.3374G>C (p.Arg1125Thr) | |
2 | g.144389701C>T | CA348699409 | ZEB2 | c.*3244G>A (n.*3244G>A) c.2618G>A (p.Arg873Lys) c.3395G>A (p.Arg1132Lys) c.3283G>A (p.Gly1095Arg) n.3364G>A c.3059G>A (p.Arg1020Lys) c.3470G>A (p.Arg1157Lys) c.*3112G>A (n.*3112G>A) n.3495G>A c.151+6711G>A (n.151+6711G>A) c.615G>A (n.615G>A) c.926G>A (p.Arg309Lys) c.3392G>A (p.Arg1131Lys) c.656-819G>A (n.656-819G>A) c.3323G>A (p.Arg1108Lys) c.3386G>A (p.Arg1129Lys) c.3374G>A (p.Arg1125Lys) | |
2 | g.144389702T>A | CA348699410 | ZEB2 | c.*3243A>T (n.*3243A>T) c.2617A>T (p.Arg873Trp) c.3394A>T (p.Arg1132Trp) c.3282A>T (p.Arg1094=) n.3363A>T c.3058A>T (p.Arg1020Trp) c.3469A>T (p.Arg1157Trp) c.*3111A>T (n.*3111A>T) n.3494A>T c.151+6710A>T (n.151+6710A>T) c.614A>T (n.614A>T) c.925A>T (p.Arg309Trp) c.3391A>T (p.Arg1131Trp) c.656-820A>T (n.656-820A>T) c.3322A>T (p.Arg1108Trp) c.3385A>T (p.Arg1129Trp) c.3373A>T (p.Arg1125Trp) | |
2 | g.144389702T>C | CA348699411 | ZEB2 | c.*3243A>G (n.*3243A>G) c.2617A>G (p.Arg873Gly) c.3394A>G (p.Arg1132Gly) c.3282A>G (p.Arg1094=) n.3363A>G c.3058A>G (p.Arg1020Gly) c.3469A>G (p.Arg1157Gly) c.*3111A>G (n.*3111A>G) n.3494A>G c.151+6710A>G (n.151+6710A>G) c.614A>G (n.614A>G) c.925A>G (p.Arg309Gly) c.3391A>G (p.Arg1131Gly) c.656-820A>G (n.656-820A>G) c.3322A>G (p.Arg1108Gly) c.3385A>G (p.Arg1129Gly) c.3373A>G (p.Arg1125Gly) | |
2 | g.144389702T>G | CA429441155 | ZEB2 | c.*3243A>C (n.*3243A>C) c.2617A>C (p.Arg873=) c.3394A>C (p.Arg1132=) c.3282A>C (p.Arg1094=) n.3363A>C c.3058A>C (p.Arg1020=) c.3469A>C (p.Arg1157=) c.*3111A>C (n.*3111A>C) n.3494A>C c.151+6710A>C (n.151+6710A>C) c.614A>C (n.614A>C) c.925A>C (p.Arg309=) c.3391A>C (p.Arg1131=) c.656-820A>C (n.656-820A>C) c.3322A>C (p.Arg1108=) c.3385A>C (p.Arg1129=) c.3373A>C (p.Arg1125=) | |
2 | g.144389703C>A | CA429441156 | ZEB2 | c.*3242G>T (n.*3242G>T) c.2616G>T (p.Pro872=) c.3393G>T (p.Pro1131=) c.3281G>T (p.Arg1094Leu) n.3362G>T c.3057G>T (p.Pro1019=) c.3468G>T (p.Pro1156=) c.*3110G>T (n.*3110G>T) n.3493G>T c.151+6709G>T (n.151+6709G>T) c.613G>T (n.613G>T) c.924G>T (p.Pro308=) c.3390G>T (p.Pro1130=) c.656-821G>T (n.656-821G>T) c.3321G>T (p.Pro1107=) c.3384G>T (p.Pro1128=) c.3372G>T (p.Pro1124=) | gnomAD v4 |
2 | g.144389703C= | CA1294881306 | ZEB2 | c.*3242G= (n.*3242G=) c.2616G= (p.Pro872=) c.3393G= (p.Pro1131=) c.3281G= (p.Arg1094=) n.3362G= c.3057G= (p.Pro1019=) c.3468G= (p.Pro1156=) c.*3110G= (n.*3110G=) n.3493G= c.151+6709G= (n.151+6709G=) c.613G= (n.613G=) c.924G= (p.Pro308=) c.3390G= (p.Pro1130=) c.656-821G= (n.656-821G=) c.3321G= (p.Pro1107=) c.3384G= (p.Pro1128=) c.3372G= (p.Pro1124=) | |
2 | g.144389703C>G | CA429441158 | ZEB2 | c.*3242G>C (n.*3242G>C) c.2616G>C (p.Pro872=) c.3393G>C (p.Pro1131=) c.3281G>C (p.Arg1094Pro) n.3362G>C c.3057G>C (p.Pro1019=) c.3468G>C (p.Pro1156=) c.*3110G>C (n.*3110G>C) n.3493G>C c.151+6709G>C (n.151+6709G>C) c.613G>C (n.613G>C) c.924G>C (p.Pro308=) c.3390G>C (p.Pro1130=) c.656-821G>C (n.656-821G>C) c.3321G>C (p.Pro1107=) c.3384G>C (p.Pro1128=) c.3372G>C (p.Pro1124=) | gnomAD v4 |
2 | g.144389703C>T | CA429441157 | ZEB2 | c.*3242G>A (n.*3242G>A) c.2616G>A (p.Pro872=) c.3393G>A (p.Pro1131=) c.3281G>A (p.Arg1094Gln) n.3362G>A c.3057G>A (p.Pro1019=) c.3468G>A (p.Pro1156=) c.*3110G>A (n.*3110G>A) n.3493G>A c.151+6709G>A (n.151+6709G>A) c.613G>A (n.613G>A) c.924G>A (p.Pro308=) c.3390G>A (p.Pro1130=) c.656-821G>A (n.656-821G>A) c.3321G>A (p.Pro1107=) c.3384G>A (p.Pro1128=) c.3372G>A (p.Pro1124=) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.144389704G>A | CA348699412 | ZEB2 | c.*3241C>T (n.*3241C>T) c.2615C>T (p.Pro872Leu) c.3392C>T (p.Pro1131Leu) c.3280C>T (p.Arg1094Ter) n.3361C>T c.3056C>T (p.Pro1019Leu) c.3467C>T (p.Pro1156Leu) c.*3109C>T (n.*3109C>T) n.3492C>T c.151+6708C>T (n.151+6708C>T) c.612C>T (n.612C>T) c.923C>T (p.Pro308Leu) c.3389C>T (p.Pro1130Leu) c.656-822C>T (n.656-822C>T) c.3320C>T (p.Pro1107Leu) c.3383C>T (p.Pro1128Leu) c.3371C>T (p.Pro1124Leu) | |
2 | g.144389704G>C | CA348699413 | ZEB2 | c.*3241C>G (n.*3241C>G) c.2615C>G (p.Pro872Arg) c.3392C>G (p.Pro1131Arg) c.3280C>G (p.Arg1094Gly) n.3361C>G c.3056C>G (p.Pro1019Arg) c.3467C>G (p.Pro1156Arg) c.*3109C>G (n.*3109C>G) n.3492C>G c.151+6708C>G (n.151+6708C>G) c.612C>G (n.612C>G) c.923C>G (p.Pro308Arg) c.3389C>G (p.Pro1130Arg) c.656-822C>G (n.656-822C>G) c.3320C>G (p.Pro1107Arg) c.3383C>G (p.Pro1128Arg) c.3371C>G (p.Pro1124Arg) | |
2 | g.144389704G>T | CA348699414 | ZEB2 | c.*3241C>A (n.*3241C>A) c.2615C>A (p.Pro872Gln) c.3392C>A (p.Pro1131Gln) c.3280C>A (p.Arg1094=) n.3361C>A c.3056C>A (p.Pro1019Gln) c.3467C>A (p.Pro1156Gln) c.*3109C>A (n.*3109C>A) n.3492C>A c.151+6708C>A (n.151+6708C>A) c.612C>A (n.612C>A) c.923C>A (p.Pro308Gln) c.3389C>A (p.Pro1130Gln) c.656-822C>A (n.656-822C>A) c.3320C>A (p.Pro1107Gln) c.3383C>A (p.Pro1128Gln) c.3371C>A (p.Pro1124Gln) | COSMIC |
2 | g.144389705G>A | CA348699417 | ZEB2 | c.*3240C>T (n.*3240C>T) c.2614C>T (p.Pro872Ser) c.3391C>T (p.Pro1131Ser) c.3279C>T (p.Cys1093=) n.3360C>T c.3055C>T (p.Pro1019Ser) c.3466C>T (p.Pro1156Ser) c.*3108C>T (n.*3108C>T) n.3491C>T c.151+6707C>T (n.151+6707C>T) c.611C>T (n.611C>T) c.922C>T (p.Pro308Ser) c.3388C>T (p.Pro1130Ser) c.656-823C>T (n.656-823C>T) c.3319C>T (p.Pro1107Ser) c.3382C>T (p.Pro1128Ser) c.3370C>T (p.Pro1124Ser) | |
2 | g.144389705G>C | CA348699416 | ZEB2 | c.*3240C>G (n.*3240C>G) c.2614C>G (p.Pro872Ala) c.3391C>G (p.Pro1131Ala) c.3279C>G (p.Cys1093Trp) n.3360C>G c.3055C>G (p.Pro1019Ala) c.3466C>G (p.Pro1156Ala) c.*3108C>G (n.*3108C>G) n.3491C>G c.151+6707C>G (n.151+6707C>G) c.611C>G (n.611C>G) c.922C>G (p.Pro308Ala) c.3388C>G (p.Pro1130Ala) c.656-823C>G (n.656-823C>G) c.3319C>G (p.Pro1107Ala) c.3382C>G (p.Pro1128Ala) c.3370C>G (p.Pro1124Ala) | |
2 | g.144389705G>T | CA348699415 | ZEB2 | c.*3240C>A (n.*3240C>A) c.2614C>A (p.Pro872Thr) c.3391C>A (p.Pro1131Thr) c.3279C>A (p.Cys1093Ter) n.3360C>A c.3055C>A (p.Pro1019Thr) c.3466C>A (p.Pro1156Thr) c.*3108C>A (n.*3108C>A) n.3491C>A c.151+6707C>A (n.151+6707C>A) c.611C>A (n.611C>A) c.922C>A (p.Pro308Thr) c.3388C>A (p.Pro1130Thr) c.656-823C>A (n.656-823C>A) c.3319C>A (p.Pro1107Thr) c.3382C>A (p.Pro1128Thr) c.3370C>A (p.Pro1124Thr) | |
2 | g.144389706C>A | CA348699418 | ZEB2 | c.*3239G>T (n.*3239G>T) c.2613G>T (p.Met871Ile) c.3390G>T (p.Met1130Ile) c.3278G>T (p.Cys1093Phe) n.3359G>T c.3054G>T (p.Met1018Ile) c.3465G>T (p.Met1155Ile) c.*3107G>T (n.*3107G>T) n.3490G>T c.151+6706G>T (n.151+6706G>T) c.610G>T (n.610G>T) c.921G>T (p.Met307Ile) c.3387G>T (p.Met1129Ile) c.656-824G>T (n.656-824G>T) c.3318G>T (p.Met1106Ile) c.3381G>T (p.Met1127Ile) c.3369G>T (p.Met1123Ile) | |
2 | g.144389706C= | CA1294881307 | ZEB2 | c.*3239G= (n.*3239G=) c.2613G= (p.Met871=) c.3390G= (p.Met1130=) c.3278G= (p.Cys1093=) n.3359G= c.3054G= (p.Met1018=) c.3465G= (p.Met1155=) c.*3107G= (n.*3107G=) n.3490G= c.151+6706G= (n.151+6706G=) c.610G= (n.610G=) c.921G= (p.Met307=) c.3387G= (p.Met1129=) c.656-824G= (n.656-824G=) c.3318G= (p.Met1106=) c.3381G= (p.Met1127=) c.3369G= (p.Met1123=) | |
2 | g.144389706C>G | CA348699420 | ZEB2 | c.*3239G>C (n.*3239G>C) c.2613G>C (p.Met871Ile) c.3390G>C (p.Met1130Ile) c.3278G>C (p.Cys1093Ser) n.3359G>C c.3054G>C (p.Met1018Ile) c.3465G>C (p.Met1155Ile) c.*3107G>C (n.*3107G>C) n.3490G>C c.151+6706G>C (n.151+6706G>C) c.610G>C (n.610G>C) c.921G>C (p.Met307Ile) c.3387G>C (p.Met1129Ile) c.656-824G>C (n.656-824G>C) c.3318G>C (p.Met1106Ile) c.3381G>C (p.Met1127Ile) c.3369G>C (p.Met1123Ile) | |
2 | g.144389706C>T | CA348699419 | ZEB2 | c.*3239G>A (n.*3239G>A) c.2613G>A (p.Met871Ile) c.3390G>A (p.Met1130Ile) c.3278G>A (p.Cys1093Tyr) n.3359G>A c.3054G>A (p.Met1018Ile) c.3465G>A (p.Met1155Ile) c.*3107G>A (n.*3107G>A) n.3490G>A c.151+6706G>A (n.151+6706G>A) c.610G>A (n.610G>A) c.921G>A (p.Met307Ile) c.3387G>A (p.Met1129Ile) c.656-824G>A (n.656-824G>A) c.3318G>A (p.Met1106Ile) c.3381G>A (p.Met1127Ile) c.3369G>A (p.Met1123Ile) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.144389707A>C | CA348699421 | ZEB2 | c.*3238T>G (n.*3238T>G) c.2612T>G (p.Met871Arg) c.3389T>G (p.Met1130Arg) c.3277T>G (p.Cys1093Gly) n.3358T>G c.3053T>G (p.Met1018Arg) c.3464T>G (p.Met1155Arg) c.*3106T>G (n.*3106T>G) n.3489T>G c.151+6705T>G (n.151+6705T>G) c.609T>G (n.609T>G) c.920T>G (p.Met307Arg) c.3386T>G (p.Met1129Arg) c.656-825T>G (n.656-825T>G) c.3317T>G (p.Met1106Arg) c.3380T>G (p.Met1127Arg) c.3368T>G (p.Met1123Arg) | |
2 | g.144389707A>G | CA348699423 | ZEB2 | c.*3238T>C (n.*3238T>C) c.2612T>C (p.Met871Thr) c.3389T>C (p.Met1130Thr) c.3277T>C (p.Cys1093Arg) n.3358T>C c.3053T>C (p.Met1018Thr) c.3464T>C (p.Met1155Thr) c.*3106T>C (n.*3106T>C) n.3489T>C c.151+6705T>C (n.151+6705T>C) c.609T>C (n.609T>C) c.920T>C (p.Met307Thr) c.3386T>C (p.Met1129Thr) c.656-825T>C (n.656-825T>C) c.3317T>C (p.Met1106Thr) c.3380T>C (p.Met1127Thr) c.3368T>C (p.Met1123Thr) | |
2 | g.144389707A>T | CA348699422 | ZEB2 | c.*3238T>A (n.*3238T>A) c.2612T>A (p.Met871Lys) c.3389T>A (p.Met1130Lys) c.3277T>A (p.Cys1093Ser) n.3358T>A c.3053T>A (p.Met1018Lys) c.3464T>A (p.Met1155Lys) c.*3106T>A (n.*3106T>A) n.3489T>A c.151+6705T>A (n.151+6705T>A) c.609T>A (n.609T>A) c.920T>A (p.Met307Lys) c.3386T>A (p.Met1129Lys) c.656-825T>A (n.656-825T>A) c.3317T>A (p.Met1106Lys) c.3380T>A (p.Met1127Lys) c.3368T>A (p.Met1123Lys) | |
2 | g.144389708T>A | CA348699425 | ZEB2 | c.*3237A>T (n.*3237A>T) c.2611A>T (p.Met871Leu) c.3388A>T (p.Met1130Leu) c.3276A>T (p.Val1092=) n.3357A>T c.3052A>T (p.Met1018Leu) c.3463A>T (p.Met1155Leu) c.*3105A>T (n.*3105A>T) n.3488A>T c.151+6704A>T (n.151+6704A>T) c.608A>T (n.608A>T) c.919A>T (p.Met307Leu) c.3385A>T (p.Met1129Leu) c.656-826A>T (n.656-826A>T) c.3316A>T (p.Met1106Leu) c.3379A>T (p.Met1127Leu) c.3367A>T (p.Met1123Leu) | dbSNP |
2 | g.144389708T>C | CA348699427 | ZEB2 | c.*3237A>G (n.*3237A>G) c.2611A>G (p.Met871Val) c.3388A>G (p.Met1130Val) c.3276A>G (p.Val1092=) n.3357A>G c.3052A>G (p.Met1018Val) c.3463A>G (p.Met1155Val) c.*3105A>G (n.*3105A>G) n.3488A>G c.151+6704A>G (n.151+6704A>G) c.608A>G (n.608A>G) c.919A>G (p.Met307Val) c.3385A>G (p.Met1129Val) c.656-826A>G (n.656-826A>G) c.3316A>G (p.Met1106Val) c.3379A>G (p.Met1127Val) c.3367A>G (p.Met1123Val) | gnomAD v4 |
2 | g.144389708T>G | CA348699429 | ZEB2 | c.*3237A>C (n.*3237A>C) c.2611A>C (p.Met871Leu) c.3388A>C (p.Met1130Leu) c.3276A>C (p.Val1092=) n.3357A>C c.3052A>C (p.Met1018Leu) c.3463A>C (p.Met1155Leu) c.*3105A>C (n.*3105A>C) n.3488A>C c.151+6704A>C (n.151+6704A>C) c.608A>C (n.608A>C) c.919A>C (p.Met307Leu) c.3385A>C (p.Met1129Leu) c.656-826A>C (n.656-826A>C) c.3316A>C (p.Met1106Leu) c.3379A>C (p.Met1127Leu) c.3367A>C (p.Met1123Leu) | |
2 | g.144389708T= | CA1294881308 | ZEB2 | c.*3237A= (n.*3237A=) c.2611A= (p.Met871=) c.3388A= (p.Met1130=) c.3276A= (p.Val1092=) n.3357A= c.3052A= (p.Met1018=) c.3463A= (p.Met1155=) c.*3105A= (n.*3105A=) n.3488A= c.151+6704A= (n.151+6704A=) c.608A= (n.608A=) c.919A= (p.Met307=) c.3385A= (p.Met1129=) c.656-826A= (n.656-826A=) c.3316A= (p.Met1106=) c.3379A= (p.Met1127=) c.3367A= (p.Met1123=) | |
2 | g.144389709A>C | CA348699430 | ZEB2 | c.*3236T>G (n.*3236T>G) c.2610T>G (p.Ser870Arg) c.3387T>G (p.Ser1129Arg) c.3275T>G (p.Val1092Gly) n.3356T>G c.3051T>G (p.Ser1017Arg) c.3462T>G (p.Ser1154Arg) c.*3104T>G (n.*3104T>G) n.3487T>G c.151+6703T>G (n.151+6703T>G) c.607T>G (n.607T>G) c.918T>G (p.Ser306Arg) c.3384T>G (p.Ser1128Arg) c.656-827T>G (n.656-827T>G) c.3315T>G (p.Ser1105Arg) c.3378T>G (p.Ser1126Arg) c.3366T>G (p.Ser1122Arg) | gnomAD v3 gnomAD v4 |
2 | g.144389709A>G | CA429441160 | ZEB2 | c.*3236T>C (n.*3236T>C) c.2610T>C (p.Ser870=) c.3387T>C (p.Ser1129=) c.3275T>C (p.Val1092Ala) n.3356T>C c.3051T>C (p.Ser1017=) c.3462T>C (p.Ser1154=) c.*3104T>C (n.*3104T>C) n.3487T>C c.151+6703T>C (n.151+6703T>C) c.607T>C (n.607T>C) c.918T>C (p.Ser306=) c.3384T>C (p.Ser1128=) c.656-827T>C (n.656-827T>C) c.3315T>C (p.Ser1105=) c.3378T>C (p.Ser1126=) c.3366T>C (p.Ser1122=) | COSMIC |
2 | g.144389709A>T | CA348699431 | ZEB2 | c.*3236T>A (n.*3236T>A) c.2610T>A (p.Ser870Arg) c.3387T>A (p.Ser1129Arg) c.3275T>A (p.Val1092Glu) n.3356T>A c.3051T>A (p.Ser1017Arg) c.3462T>A (p.Ser1154Arg) c.*3104T>A (n.*3104T>A) n.3487T>A c.151+6703T>A (n.151+6703T>A) c.607T>A (n.607T>A) c.918T>A (p.Ser306Arg) c.3384T>A (p.Ser1128Arg) c.656-827T>A (n.656-827T>A) c.3315T>A (p.Ser1105Arg) c.3378T>A (p.Ser1126Arg) c.3366T>A (p.Ser1122Arg) | |
2 | g.144389710del | CA429441161 | ZEB2 | c.*3235del (n.*3235del) c.2609del (p.Ser870IlefsTer?) c.3386del (p.Ser1129IlefsTer?) c.3274del (p.Val1092TyrfsTer?) n.3355del c.3050del (p.Ser1017IlefsTer?) c.3461del (p.Ser1154IlefsTer?) c.*3103del (n.*3103del) n.3486del c.151+6702del (n.151+6702del) c.606del (n.606del) c.917del (p.Ser306IlefsTer?) c.3383del (p.Ser1128IlefsTer?) c.656-828del (n.656-828del) c.3314del (p.Ser1105IlefsTer?) c.3377del (p.Ser1126IlefsTer?) c.3365del (p.Ser1122IlefsTer?) | |
2 | g.144389710C>A | CA348699432 | ZEB2 | c.*3235G>T (n.*3235G>T) c.2609G>T (p.Ser870Ile) c.3386G>T (p.Ser1129Ile) c.3274G>T (p.Val1092Leu) n.3355G>T c.3050G>T (p.Ser1017Ile) c.3461G>T (p.Ser1154Ile) c.*3103G>T (n.*3103G>T) n.3486G>T c.151+6702G>T (n.151+6702G>T) c.606G>T (n.606G>T) c.917G>T (p.Ser306Ile) c.3383G>T (p.Ser1128Ile) c.656-828G>T (n.656-828G>T) c.3314G>T (p.Ser1105Ile) c.3377G>T (p.Ser1126Ile) c.3365G>T (p.Ser1122Ile) | |
2 | g.144389710C>G | CA348699433 | ZEB2 | c.*3235G>C (n.*3235G>C) c.2609G>C (p.Ser870Thr) c.3386G>C (p.Ser1129Thr) c.3274G>C (p.Val1092Leu) n.3355G>C c.3050G>C (p.Ser1017Thr) c.3461G>C (p.Ser1154Thr) c.*3103G>C (n.*3103G>C) n.3486G>C c.151+6702G>C (n.151+6702G>C) c.606G>C (n.606G>C) c.917G>C (p.Ser306Thr) c.3383G>C (p.Ser1128Thr) c.656-828G>C (n.656-828G>C) c.3314G>C (p.Ser1105Thr) c.3377G>C (p.Ser1126Thr) c.3365G>C (p.Ser1122Thr) | |
2 | g.144389710C>T | CA348699434 | ZEB2 | c.*3235G>A (n.*3235G>A) c.2609G>A (p.Ser870Asn) c.3386G>A (p.Ser1129Asn) c.3274G>A (p.Val1092Ile) n.3355G>A c.3050G>A (p.Ser1017Asn) c.3461G>A (p.Ser1154Asn) c.*3103G>A (n.*3103G>A) n.3486G>A c.151+6702G>A (n.151+6702G>A) c.606G>A (n.606G>A) c.917G>A (p.Ser306Asn) c.3383G>A (p.Ser1128Asn) c.656-828G>A (n.656-828G>A) c.3314G>A (p.Ser1105Asn) c.3377G>A (p.Ser1126Asn) c.3365G>A (p.Ser1122Asn) | |
2 | g.144389711T>A | CA348699435 | ZEB2 | c.*3234A>T (n.*3234A>T) c.2608A>T (p.Ser870Cys) c.3385A>T (p.Ser1129Cys) c.3273A>T (p.Arg1091Ser) n.3354A>T c.3049A>T (p.Ser1017Cys) c.3460A>T (p.Ser1154Cys) c.*3102A>T (n.*3102A>T) n.3485A>T c.151+6701A>T (n.151+6701A>T) c.605A>T (n.605A>T) c.916A>T (p.Ser306Cys) c.3382A>T (p.Ser1128Cys) c.656-829A>T (n.656-829A>T) c.3313A>T (p.Ser1105Cys) c.3376A>T (p.Ser1126Cys) c.3364A>T (p.Ser1122Cys) | |
2 | g.144389711T>C | CA57549403 | ZEB2 | c.*3234A>G (n.*3234A>G) c.2608A>G (p.Ser870Gly) c.3385A>G (p.Ser1129Gly) c.3273A>G (p.Arg1091=) n.3354A>G c.3049A>G (p.Ser1017Gly) c.3460A>G (p.Ser1154Gly) c.*3102A>G (n.*3102A>G) n.3485A>G c.151+6701A>G (n.151+6701A>G) c.605A>G (n.605A>G) c.916A>G (p.Ser306Gly) c.3382A>G (p.Ser1128Gly) c.656-829A>G (n.656-829A>G) c.3313A>G (p.Ser1105Gly) c.3376A>G (p.Ser1126Gly) c.3364A>G (p.Ser1122Gly) | dbSNP |
2 | g.144389711T>G | CA348699436 | ZEB2 | c.*3234A>C (n.*3234A>C) c.2608A>C (p.Ser870Arg) c.3385A>C (p.Ser1129Arg) c.3273A>C (p.Arg1091Ser) n.3354A>C c.3049A>C (p.Ser1017Arg) c.3460A>C (p.Ser1154Arg) c.*3102A>C (n.*3102A>C) n.3485A>C c.151+6701A>C (n.151+6701A>C) c.605A>C (n.605A>C) c.916A>C (p.Ser306Arg) c.3382A>C (p.Ser1128Arg) c.656-829A>C (n.656-829A>C) c.3313A>C (p.Ser1105Arg) c.3376A>C (p.Ser1126Arg) c.3364A>C (p.Ser1122Arg) | |
2 | g.144389711T= | CA1294881309 | ZEB2 | c.*3234A= (n.*3234A=) c.2608A= (p.Ser870=) c.3385A= (p.Ser1129=) c.3273A= (p.Arg1091=) n.3354A= c.3049A= (p.Ser1017=) c.3460A= (p.Ser1154=) c.*3102A= (n.*3102A=) n.3485A= c.151+6701A= (n.151+6701A=) c.605A= (n.605A=) c.916A= (p.Ser306=) c.3382A= (p.Ser1128=) c.656-829A= (n.656-829A=) c.3313A= (p.Ser1105=) c.3376A= (p.Ser1126=) c.3364A= (p.Ser1122=) | |
2 | g.144389712C>A | CA348699438 | ZEB2 | c.*3233G>T (n.*3233G>T) c.2607G>T (p.Glu869Asp) c.3384G>T (p.Glu1128Asp) c.3272G>T (p.Arg1091Ile) n.3353G>T c.3048G>T (p.Glu1016Asp) c.3459G>T (p.Glu1153Asp) c.*3101G>T (n.*3101G>T) n.3484G>T c.151+6700G>T (n.151+6700G>T) c.604G>T (n.604G>T) c.915G>T (p.Glu305Asp) c.3381G>T (p.Glu1127Asp) c.656-830G>T (n.656-830G>T) c.3312G>T (p.Glu1104Asp) c.3375G>T (p.Glu1125Asp) c.3363G>T (p.Glu1121Asp) | |
2 | g.144389712C>G | CA348699437 | ZEB2 | c.*3233G>C (n.*3233G>C) c.2607G>C (p.Glu869Asp) c.3384G>C (p.Glu1128Asp) c.3272G>C (p.Arg1091Thr) n.3353G>C c.3048G>C (p.Glu1016Asp) c.3459G>C (p.Glu1153Asp) c.*3101G>C (n.*3101G>C) n.3484G>C c.151+6700G>C (n.151+6700G>C) c.604G>C (n.604G>C) c.915G>C (p.Glu305Asp) c.3381G>C (p.Glu1127Asp) c.656-830G>C (n.656-830G>C) c.3312G>C (p.Glu1104Asp) c.3375G>C (p.Glu1125Asp) c.3363G>C (p.Glu1121Asp) | ClinVar dbSNP COSMIC |
2 | g.144389712C>T | CA429441162 | ZEB2 | c.*3233G>A (n.*3233G>A) c.2607G>A (p.Glu869=) c.3384G>A (p.Glu1128=) c.3272G>A (p.Arg1091Lys) n.3353G>A c.3048G>A (p.Glu1016=) c.3459G>A (p.Glu1153=) c.*3101G>A (n.*3101G>A) n.3484G>A c.151+6700G>A (n.151+6700G>A) c.604G>A (n.604G>A) c.915G>A (p.Glu305=) c.3381G>A (p.Glu1127=) c.656-830G>A (n.656-830G>A) c.3312G>A (p.Glu1104=) c.3375G>A (p.Glu1125=) c.3363G>A (p.Glu1121=) | ClinVar |
2 | g.144389713T>A | CA348699439 | ZEB2 | c.*3232A>T (n.*3232A>T) c.2606A>T (p.Glu869Val) c.3383A>T (p.Glu1128Val) c.3271A>T (p.Arg1091Ter) n.3352A>T c.3047A>T (p.Glu1016Val) c.3458A>T (p.Glu1153Val) c.*3100A>T (n.*3100A>T) n.3483A>T c.151+6699A>T (n.151+6699A>T) c.603A>T (n.603A>T) c.914A>T (p.Glu305Val) c.3380A>T (p.Glu1127Val) c.656-831A>T (n.656-831A>T) c.3311A>T (p.Glu1104Val) c.3374A>T (p.Glu1125Val) c.3362A>T (p.Glu1121Val) | |
2 | g.144389713T>C | CA348699440 | ZEB2 | c.*3232A>G (n.*3232A>G) c.2606A>G (p.Glu869Gly) c.3383A>G (p.Glu1128Gly) c.3271A>G (p.Arg1091Gly) n.3352A>G c.3047A>G (p.Glu1016Gly) c.3458A>G (p.Glu1153Gly) c.*3100A>G (n.*3100A>G) n.3483A>G c.151+6699A>G (n.151+6699A>G) c.603A>G (n.603A>G) c.914A>G (p.Glu305Gly) c.3380A>G (p.Glu1127Gly) c.656-831A>G (n.656-831A>G) c.3311A>G (p.Glu1104Gly) c.3374A>G (p.Glu1125Gly) c.3362A>G (p.Glu1121Gly) | |
2 | g.144389713T>G | CA348699441 | ZEB2 | c.*3232A>C (n.*3232A>C) c.2606A>C (p.Glu869Ala) c.3383A>C (p.Glu1128Ala) c.3271A>C (p.Arg1091=) n.3352A>C c.3047A>C (p.Glu1016Ala) c.3458A>C (p.Glu1153Ala) c.*3100A>C (n.*3100A>C) n.3483A>C c.151+6699A>C (n.151+6699A>C) c.603A>C (n.603A>C) c.914A>C (p.Glu305Ala) c.3380A>C (p.Glu1127Ala) c.656-831A>C (n.656-831A>C) c.3311A>C (p.Glu1104Ala) c.3374A>C (p.Glu1125Ala) c.3362A>C (p.Glu1121Ala) | |
2 | g.144389714C>A | CA348699442 | ZEB2 | c.*3231G>T (n.*3231G>T) c.2605G>T (p.Glu869Ter) c.3382G>T (p.Glu1128Ter) c.3270G>T (p.Gly1090=) n.3351G>T c.3046G>T (p.Glu1016Ter) c.3457G>T (p.Glu1153Ter) c.*3099G>T (n.*3099G>T) n.3482G>T c.151+6698G>T (n.151+6698G>T) c.602G>T (n.602G>T) c.913G>T (p.Glu305Ter) c.3379G>T (p.Glu1127Ter) c.656-832G>T (n.656-832G>T) c.3310G>T (p.Glu1104Ter) c.3373G>T (p.Glu1125Ter) c.3361G>T (p.Glu1121Ter) | |
2 | g.144389714C>G | CA348699443 | ZEB2 | c.*3231G>C (n.*3231G>C) c.2605G>C (p.Glu869Gln) c.3382G>C (p.Glu1128Gln) c.3270G>C (p.Gly1090=) n.3351G>C c.3046G>C (p.Glu1016Gln) c.3457G>C (p.Glu1153Gln) c.*3099G>C (n.*3099G>C) n.3482G>C c.151+6698G>C (n.151+6698G>C) c.602G>C (n.602G>C) c.913G>C (p.Glu305Gln) c.3379G>C (p.Glu1127Gln) c.656-832G>C (n.656-832G>C) c.3310G>C (p.Glu1104Gln) c.3373G>C (p.Glu1125Gln) c.3361G>C (p.Glu1121Gln) | |
2 | g.144389714C>T | CA348699444 | ZEB2 | c.*3231G>A (n.*3231G>A) c.2605G>A (p.Glu869Lys) c.3382G>A (p.Glu1128Lys) c.3270G>A (p.Gly1090=) n.3351G>A c.3046G>A (p.Glu1016Lys) c.3457G>A (p.Glu1153Lys) c.*3099G>A (n.*3099G>A) n.3482G>A c.151+6698G>A (n.151+6698G>A) c.602G>A (n.602G>A) c.913G>A (p.Glu305Lys) c.3379G>A (p.Glu1127Lys) c.656-832G>A (n.656-832G>A) c.3310G>A (p.Glu1104Lys) c.3373G>A (p.Glu1125Lys) c.3361G>A (p.Glu1121Lys) | |
2 | g.144389716del | CA2586969978 | ZEB2 | c.*3231del (n.*3231del) c.2605del (p.Glu869ArgfsTer?) c.3382del (p.Glu1128ArgfsTer?) c.3270del (p.Arg1091GlufsTer?) n.3351del c.3046del (p.Glu1016ArgfsTer?) c.3457del (p.Glu1153ArgfsTer?) c.*3099del (n.*3099del) n.3482del c.151+6698del (n.151+6698del) c.602del (n.602del) c.913del (p.Glu305ArgfsTer?) c.3379del (p.Glu1127ArgfsTer?) c.656-832del (n.656-832del) c.3310del (p.Glu1104ArgfsTer?) c.3373del (p.Glu1125ArgfsTer?) c.3361del (p.Glu1121ArgfsTer?) | |
2 | g.144389715C>A | CA348699445 | ZEB2 | c.*3230G>T (n.*3230G>T) c.2604G>T (p.Arg868Ser) c.3381G>T (p.Arg1127Ser) c.3269G>T (p.Gly1090Val) n.3350G>T c.3045G>T (p.Arg1015Ser) c.3456G>T (p.Arg1152Ser) c.*3098G>T (n.*3098G>T) n.3481G>T c.151+6697G>T (n.151+6697G>T) c.601G>T (n.601G>T) c.912G>T (p.Arg304Ser) c.3378G>T (p.Arg1126Ser) c.656-833G>T (n.656-833G>T) c.3309G>T (p.Arg1103Ser) c.3372G>T (p.Arg1124Ser) c.3360G>T (p.Arg1120Ser) | |
2 | g.144389715C>G | CA348699446 | ZEB2 | c.*3230G>C (n.*3230G>C) c.2604G>C (p.Arg868Ser) c.3381G>C (p.Arg1127Ser) c.3269G>C (p.Gly1090Ala) n.3350G>C c.3045G>C (p.Arg1015Ser) c.3456G>C (p.Arg1152Ser) c.*3098G>C (n.*3098G>C) n.3481G>C c.151+6697G>C (n.151+6697G>C) c.601G>C (n.601G>C) c.912G>C (p.Arg304Ser) c.3378G>C (p.Arg1126Ser) c.656-833G>C (n.656-833G>C) c.3309G>C (p.Arg1103Ser) c.3372G>C (p.Arg1124Ser) c.3360G>C (p.Arg1120Ser) | |
2 | g.144389715C>T | CA429441163 | ZEB2 | c.*3230G>A (n.*3230G>A) c.2604G>A (p.Arg868=) c.3381G>A (p.Arg1127=) c.3269G>A (p.Gly1090Glu) n.3350G>A c.3045G>A (p.Arg1015=) c.3456G>A (p.Arg1152=) c.*3098G>A (n.*3098G>A) n.3481G>A c.151+6697G>A (n.151+6697G>A) c.601G>A (n.601G>A) c.912G>A (p.Arg304=) c.3378G>A (p.Arg1126=) c.656-833G>A (n.656-833G>A) c.3309G>A (p.Arg1103=) c.3372G>A (p.Arg1124=) c.3360G>A (p.Arg1120=) | gnomAD v4 |
2 | g.144389716C>A | CA348699447 | ZEB2 | c.*3229G>T (n.*3229G>T) c.2603G>T (p.Arg868Met) c.3380G>T (p.Arg1127Met) c.3268G>T (p.Gly1090Trp) n.3349G>T c.3044G>T (p.Arg1015Met) c.3455G>T (p.Arg1152Met) c.*3097G>T (n.*3097G>T) n.3480G>T c.151+6696G>T (n.151+6696G>T) c.600G>T (n.600G>T) c.911G>T (p.Arg304Met) c.3377G>T (p.Arg1126Met) c.656-834G>T (n.656-834G>T) c.3308G>T (p.Arg1103Met) c.3371G>T (p.Arg1124Met) c.3359G>T (p.Arg1120Met) | |
2 | g.144389716C>G | CA348699448 | ZEB2 | c.*3229G>C (n.*3229G>C) c.2603G>C (p.Arg868Thr) c.3380G>C (p.Arg1127Thr) c.3268G>C (p.Gly1090Arg) n.3349G>C c.3044G>C (p.Arg1015Thr) c.3455G>C (p.Arg1152Thr) c.*3097G>C (n.*3097G>C) n.3480G>C c.151+6696G>C (n.151+6696G>C) c.600G>C (n.600G>C) c.911G>C (p.Arg304Thr) c.3377G>C (p.Arg1126Thr) c.656-834G>C (n.656-834G>C) c.3308G>C (p.Arg1103Thr) c.3371G>C (p.Arg1124Thr) c.3359G>C (p.Arg1120Thr) | |
2 | g.144389716C>T | CA348699449 | ZEB2 | c.*3229G>A (n.*3229G>A) c.2603G>A (p.Arg868Lys) c.3380G>A (p.Arg1127Lys) c.3268G>A (p.Gly1090Arg) n.3349G>A c.3044G>A (p.Arg1015Lys) c.3455G>A (p.Arg1152Lys) c.*3097G>A (n.*3097G>A) n.3480G>A c.151+6696G>A (n.151+6696G>A) c.600G>A (n.600G>A) c.911G>A (p.Arg304Lys) c.3377G>A (p.Arg1126Lys) c.656-834G>A (n.656-834G>A) c.3308G>A (p.Arg1103Lys) c.3371G>A (p.Arg1124Lys) c.3359G>A (p.Arg1120Lys) | |
2 | g.144389717T>A | CA348699451 | ZEB2 | c.*3228A>T (n.*3228A>T) c.2602A>T (p.Arg868Trp) c.3379A>T (p.Arg1127Trp) c.3267A>T (p.Arg1089Ser) n.3348A>T c.3043A>T (p.Arg1015Trp) c.3454A>T (p.Arg1152Trp) c.*3096A>T (n.*3096A>T) n.3479A>T c.151+6695A>T (n.151+6695A>T) c.599A>T (n.599A>T) c.910A>T (p.Arg304Trp) c.3376A>T (p.Arg1126Trp) c.656-835A>T (n.656-835A>T) c.3307A>T (p.Arg1103Trp) c.3370A>T (p.Arg1124Trp) c.3358A>T (p.Arg1120Trp) | |
2 | g.144389717T>C | CA348699450 | ZEB2 | c.*3228A>G (n.*3228A>G) c.2602A>G (p.Arg868Gly) c.3379A>G (p.Arg1127Gly) c.3267A>G (p.Arg1089=) n.3348A>G c.3043A>G (p.Arg1015Gly) c.3454A>G (p.Arg1152Gly) c.*3096A>G (n.*3096A>G) n.3479A>G c.151+6695A>G (n.151+6695A>G) c.599A>G (n.599A>G) c.910A>G (p.Arg304Gly) c.3376A>G (p.Arg1126Gly) c.656-835A>G (n.656-835A>G) c.3307A>G (p.Arg1103Gly) c.3370A>G (p.Arg1124Gly) c.3358A>G (p.Arg1120Gly) | |
2 | g.144389717T>G | CA429441164 | ZEB2 | c.*3228A>C (n.*3228A>C) c.2602A>C (p.Arg868=) c.3379A>C (p.Arg1127=) c.3267A>C (p.Arg1089Ser) n.3348A>C c.3043A>C (p.Arg1015=) c.3454A>C (p.Arg1152=) c.*3096A>C (n.*3096A>C) n.3479A>C c.151+6695A>C (n.151+6695A>C) c.599A>C (n.599A>C) c.910A>C (p.Arg304=) c.3376A>C (p.Arg1126=) c.656-835A>C (n.656-835A>C) c.3307A>C (p.Arg1103=) c.3370A>C (p.Arg1124=) c.3358A>C (p.Arg1120=) | |
2 | g.144389718C>A | CA348699452 | ZEB2 | c.*3227G>T (n.*3227G>T) c.2601G>T (p.Glu867Asp) c.3378G>T (p.Glu1126Asp) c.3266G>T (p.Arg1089Ile) n.3347G>T c.3042G>T (p.Glu1014Asp) c.3453G>T (p.Glu1151Asp) c.*3095G>T (n.*3095G>T) n.3478G>T c.151+6694G>T (n.151+6694G>T) c.598G>T (n.598G>T) c.909G>T (p.Glu303Asp) c.3375G>T (p.Glu1125Asp) c.656-836G>T (n.656-836G>T) c.3306G>T (p.Glu1102Asp) c.3369G>T (p.Glu1123Asp) c.3357G>T (p.Glu1119Asp) | |
2 | g.144389718C= | CA1294881310 | ZEB2 | c.*3227G= (n.*3227G=) c.2601G= (p.Glu867=) c.3378G= (p.Glu1126=) c.3266G= (p.Arg1089=) n.3347G= c.3042G= (p.Glu1014=) c.3453G= (p.Glu1151=) c.*3095G= (n.*3095G=) n.3478G= c.151+6694G= (n.151+6694G=) c.598G= (n.598G=) c.909G= (p.Glu303=) c.3375G= (p.Glu1125=) c.656-836G= (n.656-836G=) c.3306G= (p.Glu1102=) c.3369G= (p.Glu1123=) c.3357G= (p.Glu1119=) | |
2 | g.144389718C>G | CA348699453 | ZEB2 | c.*3227G>C (n.*3227G>C) c.2601G>C (p.Glu867Asp) c.3378G>C (p.Glu1126Asp) c.3266G>C (p.Arg1089Thr) n.3347G>C c.3042G>C (p.Glu1014Asp) c.3453G>C (p.Glu1151Asp) c.*3095G>C (n.*3095G>C) n.3478G>C c.151+6694G>C (n.151+6694G>C) c.598G>C (n.598G>C) c.909G>C (p.Glu303Asp) c.3375G>C (p.Glu1125Asp) c.656-836G>C (n.656-836G>C) c.3306G>C (p.Glu1102Asp) c.3369G>C (p.Glu1123Asp) c.3357G>C (p.Glu1119Asp) | |
2 | g.144389718C>T | CA429441165 | ZEB2 | c.*3227G>A (n.*3227G>A) c.2601G>A (p.Glu867=) c.3378G>A (p.Glu1126=) c.3266G>A (p.Arg1089Lys) n.3347G>A c.3042G>A (p.Glu1014=) c.3453G>A (p.Glu1151=) c.*3095G>A (n.*3095G>A) n.3478G>A c.151+6694G>A (n.151+6694G>A) c.598G>A (n.598G>A) c.909G>A (p.Glu303=) c.3375G>A (p.Glu1125=) c.656-836G>A (n.656-836G>A) c.3306G>A (p.Glu1102=) c.3369G>A (p.Glu1123=) c.3357G>A (p.Glu1119=) | ClinVar dbSNP gnomAD v4 |
2 | g.144389719T>A | CA348699454 | ZEB2 | c.*3226A>T (n.*3226A>T) c.2600A>T (p.Glu867Val) c.3377A>T (p.Glu1126Val) c.3265A>T (p.Arg1089Ter) n.3346A>T c.3041A>T (p.Glu1014Val) c.3452A>T (p.Glu1151Val) c.*3094A>T (n.*3094A>T) n.3477A>T c.151+6693A>T (n.151+6693A>T) c.597A>T (n.597A>T) c.908A>T (p.Glu303Val) c.3374A>T (p.Glu1125Val) c.656-837A>T (n.656-837A>T) c.3305A>T (p.Glu1102Val) c.3368A>T (p.Glu1123Val) c.3356A>T (p.Glu1119Val) | |
2 | g.144389719T>C | CA348699455 | ZEB2 | c.*3226A>G (n.*3226A>G) c.2600A>G (p.Glu867Gly) c.3377A>G (p.Glu1126Gly) c.3265A>G (p.Arg1089Gly) n.3346A>G c.3041A>G (p.Glu1014Gly) c.3452A>G (p.Glu1151Gly) c.*3094A>G (n.*3094A>G) n.3477A>G c.151+6693A>G (n.151+6693A>G) c.597A>G (n.597A>G) c.908A>G (p.Glu303Gly) c.3374A>G (p.Glu1125Gly) c.656-837A>G (n.656-837A>G) c.3305A>G (p.Glu1102Gly) c.3368A>G (p.Glu1123Gly) c.3356A>G (p.Glu1119Gly) | |
2 | g.144389719T>G | CA348699456 | ZEB2 | c.*3226A>C (n.*3226A>C) c.2600A>C (p.Glu867Ala) c.3377A>C (p.Glu1126Ala) c.3265A>C (p.Arg1089=) n.3346A>C c.3041A>C (p.Glu1014Ala) c.3452A>C (p.Glu1151Ala) c.*3094A>C (n.*3094A>C) n.3477A>C c.151+6693A>C (n.151+6693A>C) c.597A>C (n.597A>C) c.908A>C (p.Glu303Ala) c.3374A>C (p.Glu1125Ala) c.656-837A>C (n.656-837A>C) c.3305A>C (p.Glu1102Ala) c.3368A>C (p.Glu1123Ala) c.3356A>C (p.Glu1119Ala) | |
2 | g.144389720C>A | CA348699457 | ZEB2 | c.*3225G>T (n.*3225G>T) c.2599G>T (p.Glu867Ter) c.3376G>T (p.Glu1126Ter) c.3264G>T (p.Arg1088Ser) n.3345G>T c.3040G>T (p.Glu1014Ter) c.3451G>T (p.Glu1151Ter) c.*3093G>T (n.*3093G>T) n.3476G>T c.151+6692G>T (n.151+6692G>T) c.596G>T (n.596G>T) c.907G>T (p.Glu303Ter) c.3373G>T (p.Glu1125Ter) c.656-838G>T (n.656-838G>T) c.3304G>T (p.Glu1102Ter) c.3367G>T (p.Glu1123Ter) c.3355G>T (p.Glu1119Ter) | |
2 | g.144389720C>G | CA348699458 | ZEB2 | c.*3225G>C (n.*3225G>C) c.2599G>C (p.Glu867Gln) c.3376G>C (p.Glu1126Gln) c.3264G>C (p.Arg1088Ser) n.3345G>C c.3040G>C (p.Glu1014Gln) c.3451G>C (p.Glu1151Gln) c.*3093G>C (n.*3093G>C) n.3476G>C c.151+6692G>C (n.151+6692G>C) c.596G>C (n.596G>C) c.907G>C (p.Glu303Gln) c.3373G>C (p.Glu1125Gln) c.656-838G>C (n.656-838G>C) c.3304G>C (p.Glu1102Gln) c.3367G>C (p.Glu1123Gln) c.3355G>C (p.Glu1119Gln) | |
2 | g.144389720C>T | CA348699459 | ZEB2 | c.*3225G>A (n.*3225G>A) c.2599G>A (p.Glu867Lys) c.3376G>A (p.Glu1126Lys) c.3264G>A (p.Arg1088=) n.3345G>A c.3040G>A (p.Glu1014Lys) c.3451G>A (p.Glu1151Lys) c.*3093G>A (n.*3093G>A) n.3476G>A c.151+6692G>A (n.151+6692G>A) c.596G>A (n.596G>A) c.907G>A (p.Glu303Lys) c.3373G>A (p.Glu1125Lys) c.656-838G>A (n.656-838G>A) c.3304G>A (p.Glu1102Lys) c.3367G>A (p.Glu1123Lys) c.3355G>A (p.Glu1119Lys) | |
2 | g.144389721C>A | CA348699460 | ZEB2 | c.*3224G>T (n.*3224G>T) c.2598G>T (p.Glu866Asp) c.3375G>T (p.Glu1125Asp) c.3263G>T (p.Arg1088Met) n.3344G>T c.3039G>T (p.Glu1013Asp) c.3450G>T (p.Glu1150Asp) c.*3092G>T (n.*3092G>T) n.3475G>T c.151+6691G>T (n.151+6691G>T) c.595G>T (n.595G>T) c.906G>T (p.Glu302Asp) c.3372G>T (p.Glu1124Asp) c.656-839G>T (n.656-839G>T) c.3303G>T (p.Glu1101Asp) c.3366G>T (p.Glu1122Asp) c.3354G>T (p.Glu1118Asp) | |
2 | g.144389721C= | CA1294881311 | ZEB2 | c.*3224G= (n.*3224G=) c.2598G= (p.Glu866=) c.3375G= (p.Glu1125=) c.3263G= (p.Arg1088=) n.3344G= c.3039G= (p.Glu1013=) c.3450G= (p.Glu1150=) c.*3092G= (n.*3092G=) n.3475G= c.151+6691G= (n.151+6691G=) c.595G= (n.595G=) c.906G= (p.Glu302=) c.3372G= (p.Glu1124=) c.656-839G= (n.656-839G=) c.3303G= (p.Glu1101=) c.3366G= (p.Glu1122=) c.3354G= (p.Glu1118=) | |
2 | g.144389721C>G | CA348699461 | ZEB2 | c.*3224G>C (n.*3224G>C) c.2598G>C (p.Glu866Asp) c.3375G>C (p.Glu1125Asp) c.3263G>C (p.Arg1088Thr) n.3344G>C c.3039G>C (p.Glu1013Asp) c.3450G>C (p.Glu1150Asp) c.*3092G>C (n.*3092G>C) n.3475G>C c.151+6691G>C (n.151+6691G>C) c.595G>C (n.595G>C) c.906G>C (p.Glu302Asp) c.3372G>C (p.Glu1124Asp) c.656-839G>C (n.656-839G>C) c.3303G>C (p.Glu1101Asp) c.3366G>C (p.Glu1122Asp) c.3354G>C (p.Glu1118Asp) | |
2 | g.144389721C>T | CA429441166 | ZEB2 | c.*3224G>A (n.*3224G>A) c.2598G>A (p.Glu866=) c.3375G>A (p.Glu1125=) c.3263G>A (p.Arg1088Lys) n.3344G>A c.3039G>A (p.Glu1013=) c.3450G>A (p.Glu1150=) c.*3092G>A (n.*3092G>A) n.3475G>A c.151+6691G>A (n.151+6691G>A) c.595G>A (n.595G>A) c.906G>A (p.Glu302=) c.3372G>A (p.Glu1124=) c.656-839G>A (n.656-839G>A) c.3303G>A (p.Glu1101=) c.3366G>A (p.Glu1122=) c.3354G>A (p.Glu1118=) | ClinVar dbSNP |
2 | g.144389722T>A | CA348699462 | ZEB2 | c.*3223A>T (n.*3223A>T) c.2597A>T (p.Glu866Val) c.3374A>T (p.Glu1125Val) c.3262A>T (p.Arg1088Trp) n.3343A>T c.3038A>T (p.Glu1013Val) c.3449A>T (p.Glu1150Val) c.*3091A>T (n.*3091A>T) n.3474A>T c.151+6690A>T (n.151+6690A>T) c.594A>T (n.594A>T) c.905A>T (p.Glu302Val) c.3371A>T (p.Glu1124Val) c.656-840A>T (n.656-840A>T) c.3302A>T (p.Glu1101Val) c.3365A>T (p.Glu1122Val) c.3353A>T (p.Glu1118Val) | |
2 | g.144389722T>C | CA348699463 | ZEB2 | c.*3223A>G (n.*3223A>G) c.2597A>G (p.Glu866Gly) c.3374A>G (p.Glu1125Gly) c.3262A>G (p.Arg1088Gly) n.3343A>G c.3038A>G (p.Glu1013Gly) c.3449A>G (p.Glu1150Gly) c.*3091A>G (n.*3091A>G) n.3474A>G c.151+6690A>G (n.151+6690A>G) c.594A>G (n.594A>G) c.905A>G (p.Glu302Gly) c.3371A>G (p.Glu1124Gly) c.656-840A>G (n.656-840A>G) c.3302A>G (p.Glu1101Gly) c.3365A>G (p.Glu1122Gly) c.3353A>G (p.Glu1118Gly) | |
2 | g.144389722T>G | CA348699464 | ZEB2 | c.*3223A>C (n.*3223A>C) c.2597A>C (p.Glu866Ala) c.3374A>C (p.Glu1125Ala) c.3262A>C (p.Arg1088=) n.3343A>C c.3038A>C (p.Glu1013Ala) c.3449A>C (p.Glu1150Ala) c.*3091A>C (n.*3091A>C) n.3474A>C c.151+6690A>C (n.151+6690A>C) c.594A>C (n.594A>C) c.905A>C (p.Glu302Ala) c.3371A>C (p.Glu1124Ala) c.656-840A>C (n.656-840A>C) c.3302A>C (p.Glu1101Ala) c.3365A>C (p.Glu1122Ala) c.3353A>C (p.Glu1118Ala) | |
2 | g.144389723C>A | CA348699465 | ZEB2 | c.*3222G>T (n.*3222G>T) c.2596G>T (p.Glu866Ter) c.3373G>T (p.Glu1125Ter) c.3261G>T (p.Arg1087=) n.3342G>T c.3037G>T (p.Glu1013Ter) c.3448G>T (p.Glu1150Ter) c.*3090G>T (n.*3090G>T) n.3473G>T c.151+6689G>T (n.151+6689G>T) c.593G>T (n.593G>T) c.904G>T (p.Glu302Ter) c.3370G>T (p.Glu1124Ter) c.656-841G>T (n.656-841G>T) c.3301G>T (p.Glu1101Ter) c.3364G>T (p.Glu1122Ter) c.3352G>T (p.Glu1118Ter) | |
2 | g.144389723C>G | CA348699467 | ZEB2 | c.*3222G>C (n.*3222G>C) c.2596G>C (p.Glu866Gln) c.3373G>C (p.Glu1125Gln) c.3261G>C (p.Arg1087=) n.3342G>C c.3037G>C (p.Glu1013Gln) c.3448G>C (p.Glu1150Gln) c.*3090G>C (n.*3090G>C) n.3473G>C c.151+6689G>C (n.151+6689G>C) c.593G>C (n.593G>C) c.904G>C (p.Glu302Gln) c.3370G>C (p.Glu1124Gln) c.656-841G>C (n.656-841G>C) c.3301G>C (p.Glu1101Gln) c.3364G>C (p.Glu1122Gln) c.3352G>C (p.Glu1118Gln) | |
2 | g.144389723C>T | CA348699466 | ZEB2 | c.*3222G>A (n.*3222G>A) c.2596G>A (p.Glu866Lys) c.3373G>A (p.Glu1125Lys) c.3261G>A (p.Arg1087=) n.3342G>A c.3037G>A (p.Glu1013Lys) c.3448G>A (p.Glu1150Lys) c.*3090G>A (n.*3090G>A) n.3473G>A c.151+6689G>A (n.151+6689G>A) c.593G>A (n.593G>A) c.904G>A (p.Glu302Lys) c.3370G>A (p.Glu1124Lys) c.656-841G>A (n.656-841G>A) c.3301G>A (p.Glu1101Lys) c.3364G>A (p.Glu1122Lys) c.3352G>A (p.Glu1118Lys) | |
2 | g.144389724C>A | CA429441167 | ZEB2 | c.*3221G>T (n.*3221G>T) c.2595G>T (p.Ser865=) c.3372G>T (p.Ser1124=) c.3260G>T (p.Arg1087Leu) n.3341G>T c.3036G>T (p.Ser1012=) c.3447G>T (p.Ser1149=) c.*3089G>T (n.*3089G>T) n.3472G>T c.151+6688G>T (n.151+6688G>T) c.592G>T (n.592G>T) c.903G>T (p.Ser301=) c.3369G>T (p.Ser1123=) c.656-842G>T (n.656-842G>T) c.3300G>T (p.Ser1100=) c.3363G>T (p.Ser1121=) c.3351G>T (p.Ser1117=) | |
2 | g.144389724C>G | CA429441168 | ZEB2 | c.*3221G>C (n.*3221G>C) c.2595G>C (p.Ser865=) c.3372G>C (p.Ser1124=) c.3260G>C (p.Arg1087Pro) n.3341G>C c.3036G>C (p.Ser1012=) c.3447G>C (p.Ser1149=) c.*3089G>C (n.*3089G>C) n.3472G>C c.151+6688G>C (n.151+6688G>C) c.592G>C (n.592G>C) c.903G>C (p.Ser301=) c.3369G>C (p.Ser1123=) c.656-842G>C (n.656-842G>C) c.3300G>C (p.Ser1100=) c.3363G>C (p.Ser1121=) c.3351G>C (p.Ser1117=) | |
2 | g.144389724C>T | CA429441169 | ZEB2 | c.*3221G>A (n.*3221G>A) c.2595G>A (p.Ser865=) c.3372G>A (p.Ser1124=) c.3260G>A (p.Arg1087Gln) n.3341G>A c.3036G>A (p.Ser1012=) c.3447G>A (p.Ser1149=) c.*3089G>A (n.*3089G>A) n.3472G>A c.151+6688G>A (n.151+6688G>A) c.592G>A (n.592G>A) c.903G>A (p.Ser301=) c.3369G>A (p.Ser1123=) c.656-842G>A (n.656-842G>A) c.3300G>A (p.Ser1100=) c.3363G>A (p.Ser1121=) c.3351G>A (p.Ser1117=) | gnomAD v4 |
2 | g.144389725G>A | CA348699468 | ZEB2 | c.*3220C>T (n.*3220C>T) c.2594C>T (p.Ser865Leu) c.3371C>T (p.Ser1124Leu) c.3259C>T (p.Arg1087Trp) n.3340C>T c.3035C>T (p.Ser1012Leu) c.3446C>T (p.Ser1149Leu) c.*3088C>T (n.*3088C>T) n.3471C>T c.151+6687C>T (n.151+6687C>T) c.591C>T (n.591C>T) c.902C>T (p.Ser301Leu) c.3368C>T (p.Ser1123Leu) c.656-843C>T (n.656-843C>T) c.3299C>T (p.Ser1100Leu) c.3362C>T (p.Ser1121Leu) c.3350C>T (p.Ser1117Leu) | |
2 | g.144389725G>C | CA348699469 | ZEB2 | c.*3220C>G (n.*3220C>G) c.2594C>G (p.Ser865Trp) c.3371C>G (p.Ser1124Trp) c.3259C>G (p.Arg1087Gly) n.3340C>G c.3035C>G (p.Ser1012Trp) c.3446C>G (p.Ser1149Trp) c.*3088C>G (n.*3088C>G) n.3471C>G c.151+6687C>G (n.151+6687C>G) c.591C>G (n.591C>G) c.902C>G (p.Ser301Trp) c.3368C>G (p.Ser1123Trp) c.656-843C>G (n.656-843C>G) c.3299C>G (p.Ser1100Trp) c.3362C>G (p.Ser1121Trp) c.3350C>G (p.Ser1117Trp) | |
2 | g.144389725G>T | CA348699470 | ZEB2 | c.*3220C>A (n.*3220C>A) c.2594C>A (p.Ser865Ter) c.3371C>A (p.Ser1124Ter) c.3259C>A (p.Arg1087=) n.3340C>A c.3035C>A (p.Ser1012Ter) c.3446C>A (p.Ser1149Ter) c.*3088C>A (n.*3088C>A) n.3471C>A c.151+6687C>A (n.151+6687C>A) c.591C>A (n.591C>A) c.902C>A (p.Ser301Ter) c.3368C>A (p.Ser1123Ter) c.656-843C>A (n.656-843C>A) c.3299C>A (p.Ser1100Ter) c.3362C>A (p.Ser1121Ter) c.3350C>A (p.Ser1117Ter) | |
2 | g.144389726A>C | CA348699471 | ZEB2 | c.*3219T>G (n.*3219T>G) c.2593T>G (p.Ser865Ala) c.3370T>G (p.Ser1124Ala) c.3258T>G (p.Thr1086=) n.3339T>G c.3034T>G (p.Ser1012Ala) c.3445T>G (p.Ser1149Ala) c.*3087T>G (n.*3087T>G) n.3470T>G c.151+6686T>G (n.151+6686T>G) c.590T>G (n.590T>G) c.901T>G (p.Ser301Ala) c.3367T>G (p.Ser1123Ala) c.656-844T>G (n.656-844T>G) c.3298T>G (p.Ser1100Ala) c.3361T>G (p.Ser1121Ala) c.3349T>G (p.Ser1117Ala) | gnomAD v4 |
2 | g.144389726A>G | CA348699472 | ZEB2 | c.*3219T>C (n.*3219T>C) c.2593T>C (p.Ser865Pro) c.3370T>C (p.Ser1124Pro) c.3258T>C (p.Thr1086=) n.3339T>C c.3034T>C (p.Ser1012Pro) c.3445T>C (p.Ser1149Pro) c.*3087T>C (n.*3087T>C) n.3470T>C c.151+6686T>C (n.151+6686T>C) c.590T>C (n.590T>C) c.901T>C (p.Ser301Pro) c.3367T>C (p.Ser1123Pro) c.656-844T>C (n.656-844T>C) c.3298T>C (p.Ser1100Pro) c.3361T>C (p.Ser1121Pro) c.3349T>C (p.Ser1117Pro) | |
2 | g.144389726A>T | CA348699473 | ZEB2 | c.*3219T>A (n.*3219T>A) c.2593T>A (p.Ser865Thr) c.3370T>A (p.Ser1124Thr) c.3258T>A (p.Thr1086=) n.3339T>A c.3034T>A (p.Ser1012Thr) c.3445T>A (p.Ser1149Thr) c.*3087T>A (n.*3087T>A) n.3470T>A c.151+6686T>A (n.151+6686T>A) c.590T>A (n.590T>A) c.901T>A (p.Ser301Thr) c.3367T>A (p.Ser1123Thr) c.656-844T>A (n.656-844T>A) c.3298T>A (p.Ser1100Thr) c.3361T>A (p.Ser1121Thr) c.3349T>A (p.Ser1117Thr) | |
2 | g.144389727G>A | CA429441170 | ZEB2 | c.*3218C>T (n.*3218C>T) c.2592C>T (p.Asp864=) c.3369C>T (p.Asp1123=) c.3257C>T (p.Thr1086Ile) n.3338C>T c.3033C>T (p.Asp1011=) c.3444C>T (p.Asp1148=) c.*3086C>T (n.*3086C>T) n.3469C>T c.151+6685C>T (n.151+6685C>T) c.589C>T (n.589C>T) c.900C>T (p.Asp300=) c.3366C>T (p.Asp1122=) c.656-845C>T (n.656-845C>T) c.3297C>T (p.Asp1099=) c.3360C>T (p.Asp1120=) c.3348C>T (p.Asp1116=) | |
2 | g.144389727G>C | CA348699474 | ZEB2 | c.*3218C>G (n.*3218C>G) c.2592C>G (p.Asp864Glu) c.3369C>G (p.Asp1123Glu) c.3257C>G (p.Thr1086Ser) n.3338C>G c.3033C>G (p.Asp1011Glu) c.3444C>G (p.Asp1148Glu) c.*3086C>G (n.*3086C>G) n.3469C>G c.151+6685C>G (n.151+6685C>G) c.589C>G (n.589C>G) c.900C>G (p.Asp300Glu) c.3366C>G (p.Asp1122Glu) c.656-845C>G (n.656-845C>G) c.3297C>G (p.Asp1099Glu) c.3360C>G (p.Asp1120Glu) c.3348C>G (p.Asp1116Glu) | |
2 | g.144389727G>T | CA348699475 | ZEB2 | c.*3218C>A (n.*3218C>A) c.2592C>A (p.Asp864Glu) c.3369C>A (p.Asp1123Glu) c.3257C>A (p.Thr1086Asn) n.3338C>A c.3033C>A (p.Asp1011Glu) c.3444C>A (p.Asp1148Glu) c.*3086C>A (n.*3086C>A) n.3469C>A c.151+6685C>A (n.151+6685C>A) c.589C>A (n.589C>A) c.900C>A (p.Asp300Glu) c.3366C>A (p.Asp1122Glu) c.656-845C>A (n.656-845C>A) c.3297C>A (p.Asp1099Glu) c.3360C>A (p.Asp1120Glu) c.3348C>A (p.Asp1116Glu) | |
2 | g.144389728T>A | CA348699476 | ZEB2 | c.*3217A>T (n.*3217A>T) c.2591A>T (p.Asp864Val) c.3368A>T (p.Asp1123Val) c.3256A>T (p.Thr1086Ser) n.3337A>T c.3032A>T (p.Asp1011Val) c.3443A>T (p.Asp1148Val) c.*3085A>T (n.*3085A>T) n.3468A>T c.151+6684A>T (n.151+6684A>T) c.588A>T (n.588A>T) c.899A>T (p.Asp300Val) c.3365A>T (p.Asp1122Val) c.656-846A>T (n.656-846A>T) c.3296A>T (p.Asp1099Val) c.3359A>T (p.Asp1120Val) c.3347A>T (p.Asp1116Val) | |
2 | g.144389728T>C | CA348699477 | ZEB2 | c.*3217A>G (n.*3217A>G) c.2591A>G (p.Asp864Gly) c.3368A>G (p.Asp1123Gly) c.3256A>G (p.Thr1086Ala) n.3337A>G c.3032A>G (p.Asp1011Gly) c.3443A>G (p.Asp1148Gly) c.*3085A>G (n.*3085A>G) n.3468A>G c.151+6684A>G (n.151+6684A>G) c.588A>G (n.588A>G) c.899A>G (p.Asp300Gly) c.3365A>G (p.Asp1122Gly) c.656-846A>G (n.656-846A>G) c.3296A>G (p.Asp1099Gly) c.3359A>G (p.Asp1120Gly) c.3347A>G (p.Asp1116Gly) | |
2 | g.144389728T>G | CA348699478 | ZEB2 | c.*3217A>C (n.*3217A>C) c.2591A>C (p.Asp864Ala) c.3368A>C (p.Asp1123Ala) c.3256A>C (p.Thr1086Pro) n.3337A>C c.3032A>C (p.Asp1011Ala) c.3443A>C (p.Asp1148Ala) c.*3085A>C (n.*3085A>C) n.3468A>C c.151+6684A>C (n.151+6684A>C) c.588A>C (n.588A>C) c.899A>C (p.Asp300Ala) c.3365A>C (p.Asp1122Ala) c.656-846A>C (n.656-846A>C) c.3296A>C (p.Asp1099Ala) c.3359A>C (p.Asp1120Ala) c.3347A>C (p.Asp1116Ala) | |
2 | g.144389729C>A | CA348699480 | ZEB2 | c.*3216G>T (n.*3216G>T) c.2590G>T (p.Asp864Tyr) c.3367G>T (p.Asp1123Tyr) c.3255G>T (p.Leu1085=) n.3336G>T c.3031G>T (p.Asp1011Tyr) c.3442G>T (p.Asp1148Tyr) c.*3084G>T (n.*3084G>T) n.3467G>T c.151+6683G>T (n.151+6683G>T) c.587G>T (n.587G>T) c.898G>T (p.Asp300Tyr) c.3364G>T (p.Asp1122Tyr) c.656-847G>T (n.656-847G>T) c.3295G>T (p.Asp1099Tyr) c.3358G>T (p.Asp1120Tyr) c.3346G>T (p.Asp1116Tyr) | dbSNP |
2 | g.144389729C>G | CA348699481 | ZEB2 | c.*3216G>C (n.*3216G>C) c.2590G>C (p.Asp864His) c.3367G>C (p.Asp1123His) c.3255G>C (p.Leu1085=) n.3336G>C c.3031G>C (p.Asp1011His) c.3442G>C (p.Asp1148His) c.*3084G>C (n.*3084G>C) n.3467G>C c.151+6683G>C (n.151+6683G>C) c.587G>C (n.587G>C) c.898G>C (p.Asp300His) c.3364G>C (p.Asp1122His) c.656-847G>C (n.656-847G>C) c.3295G>C (p.Asp1099His) c.3358G>C (p.Asp1120His) c.3346G>C (p.Asp1116His) | |
2 | g.144389729C>T | CA348699479 | ZEB2 | c.*3216G>A (n.*3216G>A) c.2590G>A (p.Asp864Asn) c.3367G>A (p.Asp1123Asn) c.3255G>A (p.Leu1085=) n.3336G>A c.3031G>A (p.Asp1011Asn) c.3442G>A (p.Asp1148Asn) c.*3084G>A (n.*3084G>A) n.3467G>A c.151+6683G>A (n.151+6683G>A) c.587G>A (n.587G>A) c.898G>A (p.Asp300Asn) c.3364G>A (p.Asp1122Asn) c.656-847G>A (n.656-847G>A) c.3295G>A (p.Asp1099Asn) c.3358G>A (p.Asp1120Asn) c.3346G>A (p.Asp1116Asn) | |
2 | g.144389730A>C | CA429441171 | ZEB2 | c.*3215T>G (n.*3215T>G) c.2589T>G (p.Ser863=) c.3366T>G (p.Ser1122=) c.3254T>G (p.Leu1085Arg) n.3335T>G c.3030T>G (p.Ser1010=) c.3441T>G (p.Ser1147=) c.*3083T>G (n.*3083T>G) n.3466T>G c.151+6682T>G (n.151+6682T>G) c.586T>G (n.586T>G) c.897T>G (p.Ser299=) c.3363T>G (p.Ser1121=) c.656-848T>G (n.656-848T>G) c.3294T>G (p.Ser1098=) c.3357T>G (p.Ser1119=) c.3345T>G (p.Ser1115=) | |
2 | g.144389730A>G | CA429441172 | ZEB2 | c.*3215T>C (n.*3215T>C) c.2589T>C (p.Ser863=) c.3366T>C (p.Ser1122=) c.3254T>C (p.Leu1085Pro) n.3335T>C c.3030T>C (p.Ser1010=) c.3441T>C (p.Ser1147=) c.*3083T>C (n.*3083T>C) n.3466T>C c.151+6682T>C (n.151+6682T>C) c.586T>C (n.586T>C) c.897T>C (p.Ser299=) c.3363T>C (p.Ser1121=) c.656-848T>C (n.656-848T>C) c.3294T>C (p.Ser1098=) c.3357T>C (p.Ser1119=) c.3345T>C (p.Ser1115=) | |
2 | g.144389730A>T | CA429441173 | ZEB2 | c.*3215T>A (n.*3215T>A) c.2589T>A (p.Ser863=) c.3366T>A (p.Ser1122=) c.3254T>A (p.Leu1085Gln) n.3335T>A c.3030T>A (p.Ser1010=) c.3441T>A (p.Ser1147=) c.*3083T>A (n.*3083T>A) n.3466T>A c.151+6682T>A (n.151+6682T>A) c.586T>A (n.586T>A) c.897T>A (p.Ser299=) c.3363T>A (p.Ser1121=) c.656-848T>A (n.656-848T>A) c.3294T>A (p.Ser1098=) c.3357T>A (p.Ser1119=) c.3345T>A (p.Ser1115=) | |
2 | g.144389731_144389749del | CA429441174 | ZEB2 | c.*3197_*3215del (n.*3197_*3215del) c.2571_2589del (p.Ile857MetfsTer?) c.3348_3366del (p.Ile1116MetfsTer?) c.3236_3254del (p.Leu1079Ter) n.3317_3335del c.3012_3030del (p.Ile1004MetfsTer?) c.3423_3441del (p.Ile1141MetfsTer?) c.*3065_*3083del (n.*3065_*3083del) n.3448_3466del c.151+6664_151+6682del (n.151+6664_151+6682del) c.568_586del (n.568_586del) c.879_897del (p.Ile293MetfsTer?) c.3345_3363del (p.Ile1115MetfsTer?) c.656-866_656-848del (n.656-866_656-848del) c.3276_3294del (p.Ile1092MetfsTer?) c.3339_3357del (p.Ile1113MetfsTer?) c.3327_3345del (p.Ile1109MetfsTer?) | |
2 | g.144389731G>A | CA348699482 | ZEB2 | c.*3214C>T (n.*3214C>T) c.2588C>T (p.Ser863Phe) c.3365C>T (p.Ser1122Phe) c.3253C>T (p.Leu1085=) n.3334C>T c.3029C>T (p.Ser1010Phe) c.3440C>T (p.Ser1147Phe) c.*3082C>T (n.*3082C>T) n.3465C>T c.151+6681C>T (n.151+6681C>T) c.585C>T (n.585C>T) c.896C>T (p.Ser299Phe) c.3362C>T (p.Ser1121Phe) c.656-849C>T (n.656-849C>T) c.3293C>T (p.Ser1098Phe) c.3356C>T (p.Ser1119Phe) c.3344C>T (p.Ser1115Phe) | |
2 | g.144389731G>C | CA348699483 | ZEB2 | c.*3214C>G (n.*3214C>G) c.2588C>G (p.Ser863Cys) c.3365C>G (p.Ser1122Cys) c.3253C>G (p.Leu1085Val) n.3334C>G c.3029C>G (p.Ser1010Cys) c.3440C>G (p.Ser1147Cys) c.*3082C>G (n.*3082C>G) n.3465C>G c.151+6681C>G (n.151+6681C>G) c.585C>G (n.585C>G) c.896C>G (p.Ser299Cys) c.3362C>G (p.Ser1121Cys) c.656-849C>G (n.656-849C>G) c.3293C>G (p.Ser1098Cys) c.3356C>G (p.Ser1119Cys) c.3344C>G (p.Ser1115Cys) | ClinVar gnomAD v4 |
2 | g.144389731G>T | CA348699484 | ZEB2 | c.*3214C>A (n.*3214C>A) c.2588C>A (p.Ser863Tyr) c.3365C>A (p.Ser1122Tyr) c.3253C>A (p.Leu1085Met) n.3334C>A c.3029C>A (p.Ser1010Tyr) c.3440C>A (p.Ser1147Tyr) c.*3082C>A (n.*3082C>A) n.3465C>A c.151+6681C>A (n.151+6681C>A) c.585C>A (n.585C>A) c.896C>A (p.Ser299Tyr) c.3362C>A (p.Ser1121Tyr) c.656-849C>A (n.656-849C>A) c.3293C>A (p.Ser1098Tyr) c.3356C>A (p.Ser1119Tyr) c.3344C>A (p.Ser1115Tyr) | |
2 | g.144389731_144389737delinsGAGTACC | CA1294881312 | ZEB2 | c.*3208_*3214delinsGGTACTC (n.*3208_*3214delinsGGTACTC) c.2582_2588delinsGGTACTC (p.Gly861=) c.3359_3365delinsGGTACTC (p.Gly1120=) c.3247_3253delinsGGTACTC (p.Gly1083=) n.3328_3334delinsGGTACTC c.3023_3029delinsGGTACTC (p.Gly1008=) c.3434_3440delinsGGTACTC (p.Gly1145=) c.*3076_*3082delinsGGTACTC (n.*3076_*3082delinsGGTACTC) n.3459_3465delinsGGTACTC c.151+6675_151+6681delinsGGTACTC (n.151+6675_151+6681delinsGGTACTC) c.579_585delinsGGTACTC (n.579_585delinsGGTACTC) c.890_896delinsGGTACTC (p.Gly297=) c.3356_3362delinsGGTACTC (p.Gly1119=) c.656-855_656-849delinsGGTACTC (n.656-855_656-849delinsGGTACTC) c.3287_3293delinsGGTACTC (p.Gly1096=) c.3350_3356delinsGGTACTC (p.Gly1117=) c.3338_3344delinsGGTACTC (p.Gly1113=) | |
2 | g.144389732A>C | CA348699485 | ZEB2 | c.*3213T>G (n.*3213T>G) c.2587T>G (p.Ser863Ala) c.3364T>G (p.Ser1122Ala) c.3252T>G (p.Thr1084=) n.3333T>G c.3028T>G (p.Ser1010Ala) c.3439T>G (p.Ser1147Ala) c.*3081T>G (n.*3081T>G) n.3464T>G c.151+6680T>G (n.151+6680T>G) c.584T>G (n.584T>G) c.895T>G (p.Ser299Ala) c.3361T>G (p.Ser1121Ala) c.656-850T>G (n.656-850T>G) c.3292T>G (p.Ser1098Ala) c.3355T>G (p.Ser1119Ala) c.3343T>G (p.Ser1115Ala) | |
2 | g.144389732A>G | CA348699486 | ZEB2 | c.*3213T>C (n.*3213T>C) c.2587T>C (p.Ser863Pro) c.3364T>C (p.Ser1122Pro) c.3252T>C (p.Thr1084=) n.3333T>C c.3028T>C (p.Ser1010Pro) c.3439T>C (p.Ser1147Pro) c.*3081T>C (n.*3081T>C) n.3464T>C c.151+6680T>C (n.151+6680T>C) c.584T>C (n.584T>C) c.895T>C (p.Ser299Pro) c.3361T>C (p.Ser1121Pro) c.656-850T>C (n.656-850T>C) c.3292T>C (p.Ser1098Pro) c.3355T>C (p.Ser1119Pro) c.3343T>C (p.Ser1115Pro) | gnomAD v4 |
2 | g.144389732A>T | CA348699487 | ZEB2 | c.*3213T>A (n.*3213T>A) c.2587T>A (p.Ser863Thr) c.3364T>A (p.Ser1122Thr) c.3252T>A (p.Thr1084=) n.3333T>A c.3028T>A (p.Ser1010Thr) c.3439T>A (p.Ser1147Thr) c.*3081T>A (n.*3081T>A) n.3464T>A c.151+6680T>A (n.151+6680T>A) c.584T>A (n.584T>A) c.895T>A (p.Ser299Thr) c.3361T>A (p.Ser1121Thr) c.656-850T>A (n.656-850T>A) c.3292T>A (p.Ser1098Thr) c.3355T>A (p.Ser1119Thr) c.3343T>A (p.Ser1115Thr) | |
2 | g.144389732_144389737delinsCATTA | CA267213 | ZEB2 | c.*3208_*3213delinsTAATG (n.*3208_*3213delinsTAATG) c.2582_2587delinsTAATG (p.Gly861ValfsTer?) c.3359_3364delinsTAATG (p.Gly1120ValfsTer?) c.3247_3252delinsTAATG (p.Gly1083Ter) n.3328_3333delinsTAATG c.3023_3028delinsTAATG (p.Gly1008ValfsTer?) c.3434_3439delinsTAATG (p.Gly1145ValfsTer?) c.*3076_*3081delinsTAATG (n.*3076_*3081delinsTAATG) n.3459_3464delinsTAATG c.151+6675_151+6680delinsTAATG (n.151+6675_151+6680delinsTAATG) c.579_584delinsTAATG (n.579_584delinsTAATG) c.890_895delinsTAATG (p.Gly297ValfsTer?) c.3356_3361delinsTAATG (p.Gly1119ValfsTer?) c.656-855_656-850delinsTAATG (n.656-855_656-850delinsTAATG) c.3287_3292delinsTAATG (p.Gly1096ValfsTer?) c.3350_3355delinsTAATG (p.Gly1117ValfsTer?) c.3338_3343delinsTAATG (p.Gly1113ValfsTer?) | ClinVar dbSNP |
2 | g.144389733G>A | CA1898122 | ZEB2 | c.*3212C>T (n.*3212C>T) c.2586C>T (p.Tyr862=) c.3363C>T (p.Tyr1121=) c.3251C>T (p.Thr1084Ile) n.3332C>T c.3027C>T (p.Tyr1009=) c.3438C>T (p.Tyr1146=) c.*3080C>T (n.*3080C>T) n.3463C>T c.151+6679C>T (n.151+6679C>T) c.583C>T (n.583C>T) c.894C>T (p.Tyr298=) c.3360C>T (p.Tyr1120=) c.656-851C>T (n.656-851C>T) c.3291C>T (p.Tyr1097=) c.3354C>T (p.Tyr1118=) c.3342C>T (p.Tyr1114=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.144389733G>C | CA348699488 | ZEB2 | c.*3212C>G (n.*3212C>G) c.2586C>G (p.Tyr862Ter) c.3363C>G (p.Tyr1121Ter) c.3251C>G (p.Thr1084Ser) n.3332C>G c.3027C>G (p.Tyr1009Ter) c.3438C>G (p.Tyr1146Ter) c.*3080C>G (n.*3080C>G) n.3463C>G c.151+6679C>G (n.151+6679C>G) c.583C>G (n.583C>G) c.894C>G (p.Tyr298Ter) c.3360C>G (p.Tyr1120Ter) c.656-851C>G (n.656-851C>G) c.3291C>G (p.Tyr1097Ter) c.3354C>G (p.Tyr1118Ter) c.3342C>G (p.Tyr1114Ter) | |
2 | g.144389733G= | CA1294881313 | ZEB2 | c.*3212C= (n.*3212C=) c.2586C= (p.Tyr862=) c.3363C= (p.Tyr1121=) c.3251C= (p.Thr1084=) n.3332C= c.3027C= (p.Tyr1009=) c.3438C= (p.Tyr1146=) c.*3080C= (n.*3080C=) n.3463C= c.151+6679C= (n.151+6679C=) c.583C= (n.583C=) c.894C= (p.Tyr298=) c.3360C= (p.Tyr1120=) c.656-851C= (n.656-851C=) c.3291C= (p.Tyr1097=) c.3354C= (p.Tyr1118=) c.3342C= (p.Tyr1114=) | |
2 | g.144389733G>T | CA348699490 | ZEB2 | c.*3212C>A (n.*3212C>A) c.2586C>A (p.Tyr862Ter) c.3363C>A (p.Tyr1121Ter) c.3251C>A (p.Thr1084Asn) n.3332C>A c.3027C>A (p.Tyr1009Ter) c.3438C>A (p.Tyr1146Ter) c.*3080C>A (n.*3080C>A) n.3463C>A c.151+6679C>A (n.151+6679C>A) c.583C>A (n.583C>A) c.894C>A (p.Tyr298Ter) c.3360C>A (p.Tyr1120Ter) c.656-851C>A (n.656-851C>A) c.3291C>A (p.Tyr1097Ter) c.3354C>A (p.Tyr1118Ter) c.3342C>A (p.Tyr1114Ter) | |
2 | g.144389733_144389734insCAT | CA2577152071 | ZEB2 | c.*3211_*3212insATG (n.*3211_*3212insATG) c.2585_2586insATG (p.Tyr862Ter) c.3362_3363insATG (p.Tyr1121Ter) c.3250_3251insATG (p.Thr1084delinsAsnAla) n.3331_3332insATG c.3026_3027insATG (p.Tyr1009Ter) c.3437_3438insATG (p.Tyr1146Ter) c.*3079_*3080insATG (n.*3079_*3080insATG) n.3462_3463insATG c.151+6678_151+6679insATG (n.151+6678_151+6679insATG) c.582_583insATG (n.582_583insATG) c.893_894insATG (p.Tyr298Ter) c.3359_3360insATG (p.Tyr1120Ter) c.656-852_656-851insATG (n.656-852_656-851insATG) c.3290_3291insATG (p.Tyr1097Ter) c.3353_3354insATG (p.Tyr1118Ter) c.3341_3342insATG (p.Tyr1114Ter) | |
2 | g.144389734T>A | CA348699492 | ZEB2 | c.*3211A>T (n.*3211A>T) c.2585A>T (p.Tyr862Phe) c.3362A>T (p.Tyr1121Phe) c.3250A>T (p.Thr1084Ser) n.3331A>T c.3026A>T (p.Tyr1009Phe) c.3437A>T (p.Tyr1146Phe) c.*3079A>T (n.*3079A>T) n.3462A>T c.151+6678A>T (n.151+6678A>T) c.582A>T (n.582A>T) c.893A>T (p.Tyr298Phe) c.3359A>T (p.Tyr1120Phe) c.656-852A>T (n.656-852A>T) c.3290A>T (p.Tyr1097Phe) c.3353A>T (p.Tyr1118Phe) c.3341A>T (p.Tyr1114Phe) | |
2 | g.144389734T>C | CA348699494 | ZEB2 | c.*3211A>G (n.*3211A>G) c.2585A>G (p.Tyr862Cys) c.3362A>G (p.Tyr1121Cys) c.3250A>G (p.Thr1084Ala) n.3331A>G c.3026A>G (p.Tyr1009Cys) c.3437A>G (p.Tyr1146Cys) c.*3079A>G (n.*3079A>G) n.3462A>G c.151+6678A>G (n.151+6678A>G) c.582A>G (n.582A>G) c.893A>G (p.Tyr298Cys) c.3359A>G (p.Tyr1120Cys) c.656-852A>G (n.656-852A>G) c.3290A>G (p.Tyr1097Cys) c.3353A>G (p.Tyr1118Cys) c.3341A>G (p.Tyr1114Cys) | |
2 | g.144389734T>G | CA348699495 | ZEB2 | c.*3211A>C (n.*3211A>C) c.2585A>C (p.Tyr862Ser) c.3362A>C (p.Tyr1121Ser) c.3250A>C (p.Thr1084Pro) n.3331A>C c.3026A>C (p.Tyr1009Ser) c.3437A>C (p.Tyr1146Ser) c.*3079A>C (n.*3079A>C) n.3462A>C c.151+6678A>C (n.151+6678A>C) c.582A>C (n.582A>C) c.893A>C (p.Tyr298Ser) c.3359A>C (p.Tyr1120Ser) c.656-852A>C (n.656-852A>C) c.3290A>C (p.Tyr1097Ser) c.3353A>C (p.Tyr1118Ser) c.3341A>C (p.Tyr1114Ser) | |
2 | g.144389735A= | CA1294881314 | ZEB2 | c.*3210T= (n.*3210T=) c.2584T= (p.Tyr862=) c.3361T= (p.Tyr1121=) c.3249T= (p.Gly1083=) n.3330T= c.3025T= (p.Tyr1009=) c.3436T= (p.Tyr1146=) c.*3078T= (n.*3078T=) n.3461T= c.151+6677T= (n.151+6677T=) c.581T= (n.581T=) c.892T= (p.Tyr298=) c.3358T= (p.Tyr1120=) c.656-853T= (n.656-853T=) c.3289T= (p.Tyr1097=) c.3352T= (p.Tyr1118=) c.3340T= (p.Tyr1114=) | |
2 | g.144389735A>C | CA348699500 | ZEB2 | c.*3210T>G (n.*3210T>G) c.2584T>G (p.Tyr862Asp) c.3361T>G (p.Tyr1121Asp) c.3249T>G (p.Gly1083=) n.3330T>G c.3025T>G (p.Tyr1009Asp) c.3436T>G (p.Tyr1146Asp) c.*3078T>G (n.*3078T>G) n.3461T>G c.151+6677T>G (n.151+6677T>G) c.581T>G (n.581T>G) c.892T>G (p.Tyr298Asp) c.3358T>G (p.Tyr1120Asp) c.656-853T>G (n.656-853T>G) c.3289T>G (p.Tyr1097Asp) c.3352T>G (p.Tyr1118Asp) c.3340T>G (p.Tyr1114Asp) | |
2 | g.144389735A>G | CA348699499 | ZEB2 | c.*3210T>C (n.*3210T>C) c.2584T>C (p.Tyr862His) c.3361T>C (p.Tyr1121His) c.3249T>C (p.Gly1083=) n.3330T>C c.3025T>C (p.Tyr1009His) c.3436T>C (p.Tyr1146His) c.*3078T>C (n.*3078T>C) n.3461T>C c.151+6677T>C (n.151+6677T>C) c.581T>C (n.581T>C) c.892T>C (p.Tyr298His) c.3358T>C (p.Tyr1120His) c.656-853T>C (n.656-853T>C) c.3289T>C (p.Tyr1097His) c.3352T>C (p.Tyr1118His) c.3340T>C (p.Tyr1114His) | dbSNP |
2 | g.144389735A>T | CA1898123 | ZEB2 | c.*3210T>A (n.*3210T>A) c.2584T>A (p.Tyr862Asn) c.3361T>A (p.Tyr1121Asn) c.3249T>A (p.Gly1083=) n.3330T>A c.3025T>A (p.Tyr1009Asn) c.3436T>A (p.Tyr1146Asn) c.*3078T>A (n.*3078T>A) n.3461T>A c.151+6677T>A (n.151+6677T>A) c.581T>A (n.581T>A) c.892T>A (p.Tyr298Asn) c.3358T>A (p.Tyr1120Asn) c.656-853T>A (n.656-853T>A) c.3289T>A (p.Tyr1097Asn) c.3352T>A (p.Tyr1118Asn) c.3340T>A (p.Tyr1114Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.144389736C>A | CA429441175 | ZEB2 | c.*3209G>T (n.*3209G>T) c.2583G>T (p.Gly861=) c.3360G>T (p.Gly1120=) c.3248G>T (p.Gly1083Val) n.3329G>T c.3024G>T (p.Gly1008=) c.3435G>T (p.Gly1145=) c.*3077G>T (n.*3077G>T) n.3460G>T c.151+6676G>T (n.151+6676G>T) c.580G>T (n.580G>T) c.891G>T (p.Gly297=) c.3357G>T (p.Gly1119=) c.656-854G>T (n.656-854G>T) c.3288G>T (p.Gly1096=) c.3351G>T (p.Gly1117=) c.3339G>T (p.Gly1113=) | COSMIC |
2 | g.144389736C>G | CA429441176 | ZEB2 | c.*3209G>C (n.*3209G>C) c.2583G>C (p.Gly861=) c.3360G>C (p.Gly1120=) c.3248G>C (p.Gly1083Ala) n.3329G>C c.3024G>C (p.Gly1008=) c.3435G>C (p.Gly1145=) c.*3077G>C (n.*3077G>C) n.3460G>C c.151+6676G>C (n.151+6676G>C) c.580G>C (n.580G>C) c.891G>C (p.Gly297=) c.3357G>C (p.Gly1119=) c.656-854G>C (n.656-854G>C) c.3288G>C (p.Gly1096=) c.3351G>C (p.Gly1117=) c.3339G>C (p.Gly1113=) | |
2 | g.144389736C>T | CA429441177 | ZEB2 | c.*3209G>A (n.*3209G>A) c.2583G>A (p.Gly861=) c.3360G>A (p.Gly1120=) c.3248G>A (p.Gly1083Asp) n.3329G>A c.3024G>A (p.Gly1008=) c.3435G>A (p.Gly1145=) c.*3077G>A (n.*3077G>A) n.3460G>A c.151+6676G>A (n.151+6676G>A) c.580G>A (n.580G>A) c.891G>A (p.Gly297=) c.3357G>A (p.Gly1119=) c.656-854G>A (n.656-854G>A) c.3288G>A (p.Gly1096=) c.3351G>A (p.Gly1117=) c.3339G>A (p.Gly1113=) | |
2 | g.144389737C>A | CA348699503 | ZEB2 | c.*3208G>T (n.*3208G>T) c.2582G>T (p.Gly861Val) c.3359G>T (p.Gly1120Val) c.3247G>T (p.Gly1083Cys) n.3328G>T c.3023G>T (p.Gly1008Val) c.3434G>T (p.Gly1145Val) c.*3076G>T (n.*3076G>T) n.3459G>T c.151+6675G>T (n.151+6675G>T) c.579G>T (n.579G>T) c.890G>T (p.Gly297Val) c.3356G>T (p.Gly1119Val) c.656-855G>T (n.656-855G>T) c.3287G>T (p.Gly1096Val) c.3350G>T (p.Gly1117Val) c.3338G>T (p.Gly1113Val) | gnomAD v4 |
2 | g.144389737C>G | CA348699504 | ZEB2 | c.*3208G>C (n.*3208G>C) c.2582G>C (p.Gly861Ala) c.3359G>C (p.Gly1120Ala) c.3247G>C (p.Gly1083Arg) n.3328G>C c.3023G>C (p.Gly1008Ala) c.3434G>C (p.Gly1145Ala) c.*3076G>C (n.*3076G>C) n.3459G>C c.151+6675G>C (n.151+6675G>C) c.579G>C (n.579G>C) c.890G>C (p.Gly297Ala) c.3356G>C (p.Gly1119Ala) c.656-855G>C (n.656-855G>C) c.3287G>C (p.Gly1096Ala) c.3350G>C (p.Gly1117Ala) c.3338G>C (p.Gly1113Ala) | |
2 | g.144389737C>T | CA348699505 | ZEB2 | c.*3208G>A (n.*3208G>A) c.2582G>A (p.Gly861Glu) c.3359G>A (p.Gly1120Glu) c.3247G>A (p.Gly1083Ser) n.3328G>A c.3023G>A (p.Gly1008Glu) c.3434G>A (p.Gly1145Glu) c.*3076G>A (n.*3076G>A) n.3459G>A c.151+6675G>A (n.151+6675G>A) c.579G>A (n.579G>A) c.890G>A (p.Gly297Glu) c.3356G>A (p.Gly1119Glu) c.656-855G>A (n.656-855G>A) c.3287G>A (p.Gly1096Glu) c.3350G>A (p.Gly1117Glu) c.3338G>A (p.Gly1113Glu) | |
2 | g.144389738C>A | CA348699506 | ZEB2 | c.*3207G>T (n.*3207G>T) c.2581G>T (p.Gly861Trp) c.3358G>T (p.Gly1120Trp) c.3246G>T (p.Arg1082Ser) n.3327G>T c.3022G>T (p.Gly1008Trp) c.3433G>T (p.Gly1145Trp) c.*3075G>T (n.*3075G>T) n.3458G>T c.151+6674G>T (n.151+6674G>T) c.578G>T (n.578G>T) c.889G>T (p.Gly297Trp) c.3355G>T (p.Gly1119Trp) c.656-856G>T (n.656-856G>T) c.3286G>T (p.Gly1096Trp) c.3349G>T (p.Gly1117Trp) c.3337G>T (p.Gly1113Trp) | |
2 | g.144389738C>G | CA348699508 | ZEB2 | c.*3207G>C (n.*3207G>C) c.2581G>C (p.Gly861Arg) c.3358G>C (p.Gly1120Arg) c.3246G>C (p.Arg1082Ser) n.3327G>C c.3022G>C (p.Gly1008Arg) c.3433G>C (p.Gly1145Arg) c.*3075G>C (n.*3075G>C) n.3458G>C c.151+6674G>C (n.151+6674G>C) c.578G>C (n.578G>C) c.889G>C (p.Gly297Arg) c.3355G>C (p.Gly1119Arg) c.656-856G>C (n.656-856G>C) c.3286G>C (p.Gly1096Arg) c.3349G>C (p.Gly1117Arg) c.3337G>C (p.Gly1113Arg) | |
2 | g.144389738C>T | CA348699509 | ZEB2 | c.*3207G>A (n.*3207G>A) c.2581G>A (p.Gly861Arg) c.3358G>A (p.Gly1120Arg) c.3246G>A (p.Arg1082=) n.3327G>A c.3022G>A (p.Gly1008Arg) c.3433G>A (p.Gly1145Arg) c.*3075G>A (n.*3075G>A) n.3458G>A c.151+6674G>A (n.151+6674G>A) c.578G>A (n.578G>A) c.889G>A (p.Gly297Arg) c.3355G>A (p.Gly1119Arg) c.656-856G>A (n.656-856G>A) c.3286G>A (p.Gly1096Arg) c.3349G>A (p.Gly1117Arg) c.3337G>A (p.Gly1113Arg) | |
2 | g.144389739C>A | CA348699510 | ZEB2 | c.*3206G>T (n.*3206G>T) c.2580G>T (p.Gln860His) c.3357G>T (p.Gln1119His) c.3245G>T (p.Arg1082Met) n.3326G>T c.3021G>T (p.Gln1007His) c.3432G>T (p.Gln1144His) c.*3074G>T (n.*3074G>T) n.3457G>T c.151+6673G>T (n.151+6673G>T) c.577G>T (n.577G>T) c.888G>T (p.Gln296His) c.3354G>T (p.Gln1118His) c.656-857G>T (n.656-857G>T) c.3285G>T (p.Gln1095His) c.3348G>T (p.Gln1116His) c.3336G>T (p.Gln1112His) | |
2 | g.144389739C= | CA1294881315 | ZEB2 | c.*3206G= (n.*3206G=) c.2580G= (p.Gln860=) c.3357G= (p.Gln1119=) c.3245G= (p.Arg1082=) n.3326G= c.3021G= (p.Gln1007=) c.3432G= (p.Gln1144=) c.*3074G= (n.*3074G=) n.3457G= c.151+6673G= (n.151+6673G=) c.577G= (n.577G=) c.888G= (p.Gln296=) c.3354G= (p.Gln1118=) c.656-857G= (n.656-857G=) c.3285G= (p.Gln1095=) c.3348G= (p.Gln1116=) c.3336G= (p.Gln1112=) | |
2 | g.144389739C>G | CA348699511 | ZEB2 | c.*3206G>C (n.*3206G>C) c.2580G>C (p.Gln860His) c.3357G>C (p.Gln1119His) c.3245G>C (p.Arg1082Thr) n.3326G>C c.3021G>C (p.Gln1007His) c.3432G>C (p.Gln1144His) c.*3074G>C (n.*3074G>C) n.3457G>C c.151+6673G>C (n.151+6673G>C) c.577G>C (n.577G>C) c.888G>C (p.Gln296His) c.3354G>C (p.Gln1118His) c.656-857G>C (n.656-857G>C) c.3285G>C (p.Gln1095His) c.3348G>C (p.Gln1116His) c.3336G>C (p.Gln1112His) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.144389739C>T | CA429441178 | ZEB2 | c.*3206G>A (n.*3206G>A) c.2580G>A (p.Gln860=) c.3357G>A (p.Gln1119=) c.3245G>A (p.Arg1082Lys) n.3326G>A c.3021G>A (p.Gln1007=) c.3432G>A (p.Gln1144=) c.*3074G>A (n.*3074G>A) n.3457G>A c.151+6673G>A (n.151+6673G>A) c.577G>A (n.577G>A) c.888G>A (p.Gln296=) c.3354G>A (p.Gln1118=) c.656-857G>A (n.656-857G>A) c.3285G>A (p.Gln1095=) c.3348G>A (p.Gln1116=) c.3336G>A (p.Gln1112=) | |
2 | g.144389740del | CA429441179 | ZEB2 | c.*3205del (n.*3205del) c.2579del (p.Gln860ArgfsTer?) c.3356del (p.Gln1119ArgfsTer?) c.3244del (p.Arg1082GlyfsTer4) n.3325del c.3020del (p.Gln1007ArgfsTer?) c.3431del (p.Gln1144ArgfsTer?) c.*3073del (n.*3073del) n.3456del c.151+6672del (n.151+6672del) c.576del (n.576del) c.887del (p.Gln296ArgfsTer?) c.3353del (p.Gln1118ArgfsTer?) c.656-858del (n.656-858del) c.3284del (p.Gln1095ArgfsTer?) c.3347del (p.Gln1116ArgfsTer?) c.3335del (p.Gln1112ArgfsTer?) | |
2 | g.144389740T>A | CA348699512 | ZEB2 | c.*3205A>T (n.*3205A>T) c.2579A>T (p.Gln860Leu) c.3356A>T (p.Gln1119Leu) c.3244A>T (p.Arg1082Trp) n.3325A>T c.3020A>T (p.Gln1007Leu) c.3431A>T (p.Gln1144Leu) c.*3073A>T (n.*3073A>T) n.3456A>T c.151+6672A>T (n.151+6672A>T) c.576A>T (n.576A>T) c.887A>T (p.Gln296Leu) c.3353A>T (p.Gln1118Leu) c.656-858A>T (n.656-858A>T) c.3284A>T (p.Gln1095Leu) c.3347A>T (p.Gln1116Leu) c.3335A>T (p.Gln1112Leu) | |
2 | g.144389740T>C | CA253288 | ZEB2 | c.*3205A>G (n.*3205A>G) c.2579A>G (p.Gln860Arg) c.3356A>G (p.Gln1119Arg) c.3244A>G (p.Arg1082Gly) n.3325A>G c.3020A>G (p.Gln1007Arg) c.3431A>G (p.Gln1144Arg) c.*3073A>G (n.*3073A>G) n.3456A>G c.151+6672A>G (n.151+6672A>G) c.576A>G (n.576A>G) c.887A>G (p.Gln296Arg) c.3353A>G (p.Gln1118Arg) c.656-858A>G (n.656-858A>G) c.3284A>G (p.Gln1095Arg) c.3347A>G (p.Gln1116Arg) c.3335A>G (p.Gln1112Arg) | ClinVar dbSNP gnomAD v4 |
2 | g.144389740T>G | CA348699513 | ZEB2 | c.*3205A>C (n.*3205A>C) c.2579A>C (p.Gln860Pro) c.3356A>C (p.Gln1119Pro) c.3244A>C (p.Arg1082=) n.3325A>C c.3020A>C (p.Gln1007Pro) c.3431A>C (p.Gln1144Pro) c.*3073A>C (n.*3073A>C) n.3456A>C c.151+6672A>C (n.151+6672A>C) c.576A>C (n.576A>C) c.887A>C (p.Gln296Pro) c.3353A>C (p.Gln1118Pro) c.656-858A>C (n.656-858A>C) c.3284A>C (p.Gln1095Pro) c.3347A>C (p.Gln1116Pro) c.3335A>C (p.Gln1112Pro) | |
2 | g.144389740T= | CA1294881316 | ZEB2 | c.*3205A= (n.*3205A=) c.2579A= (p.Gln860=) c.3356A= (p.Gln1119=) c.3244A= (p.Arg1082=) n.3325A= c.3020A= (p.Gln1007=) c.3431A= (p.Gln1144=) c.*3073A= (n.*3073A=) n.3456A= c.151+6672A= (n.151+6672A=) c.576A= (n.576A=) c.887A= (p.Gln296=) c.3353A= (p.Gln1118=) c.656-858A= (n.656-858A=) c.3284A= (p.Gln1095=) c.3347A= (p.Gln1116=) c.3335A= (p.Gln1112=) | |
2 | g.144389741G>A | CA348699516 | ZEB2 | c.*3204C>T (n.*3204C>T) c.2578C>T (p.Gln860Ter) c.3355C>T (p.Gln1119Ter) c.3243C>T (p.Leu1081=) n.3324C>T c.3019C>T (p.Gln1007Ter) c.3430C>T (p.Gln1144Ter) c.*3072C>T (n.*3072C>T) n.3455C>T c.151+6671C>T (n.151+6671C>T) c.575C>T (n.575C>T) c.886C>T (p.Gln296Ter) c.3352C>T (p.Gln1118Ter) c.656-859C>T (n.656-859C>T) c.3283C>T (p.Gln1095Ter) c.3346C>T (p.Gln1116Ter) c.3334C>T (p.Gln1112Ter) | COSMIC |
2 | g.144389741G>C | CA348699518 | ZEB2 | c.*3204C>G (n.*3204C>G) c.2578C>G (p.Gln860Glu) c.3355C>G (p.Gln1119Glu) c.3243C>G (p.Leu1081=) n.3324C>G c.3019C>G (p.Gln1007Glu) c.3430C>G (p.Gln1144Glu) c.*3072C>G (n.*3072C>G) n.3455C>G c.151+6671C>G (n.151+6671C>G) c.575C>G (n.575C>G) c.886C>G (p.Gln296Glu) c.3352C>G (p.Gln1118Glu) c.656-859C>G (n.656-859C>G) c.3283C>G (p.Gln1095Glu) c.3346C>G (p.Gln1116Glu) c.3334C>G (p.Gln1112Glu) | |
2 | g.144389741G>T | CA348699520 | ZEB2 | c.*3204C>A (n.*3204C>A) c.2578C>A (p.Gln860Lys) c.3355C>A (p.Gln1119Lys) c.3243C>A (p.Leu1081=) n.3324C>A c.3019C>A (p.Gln1007Lys) c.3430C>A (p.Gln1144Lys) c.*3072C>A (n.*3072C>A) n.3455C>A c.151+6671C>A (n.151+6671C>A) c.575C>A (n.575C>A) c.886C>A (p.Gln296Lys) c.3352C>A (p.Gln1118Lys) c.656-859C>A (n.656-859C>A) c.3283C>A (p.Gln1095Lys) c.3346C>A (p.Gln1116Lys) c.3334C>A (p.Gln1112Lys) | |
2 | g.144389742A>C | CA429441180 | ZEB2 | c.*3203T>G (n.*3203T>G) c.2577T>G (p.Pro859=) c.3354T>G (p.Pro1118=) c.3242T>G (p.Leu1081Arg) n.3323T>G c.3018T>G (p.Pro1006=) c.3429T>G (p.Pro1143=) c.*3071T>G (n.*3071T>G) n.3454T>G c.151+6670T>G (n.151+6670T>G) c.574T>G (n.574T>G) c.885T>G (p.Pro295=) c.3351T>G (p.Pro1117=) c.656-860T>G (n.656-860T>G) c.3282T>G (p.Pro1094=) c.3345T>G (p.Pro1115=) c.3333T>G (p.Pro1111=) | |
2 | g.144389742A>G | CA429441181 | ZEB2 | c.*3203T>C (n.*3203T>C) c.2577T>C (p.Pro859=) c.3354T>C (p.Pro1118=) c.3242T>C (p.Leu1081Pro) n.3323T>C c.3018T>C (p.Pro1006=) c.3429T>C (p.Pro1143=) c.*3071T>C (n.*3071T>C) n.3454T>C c.151+6670T>C (n.151+6670T>C) c.574T>C (n.574T>C) c.885T>C (p.Pro295=) c.3351T>C (p.Pro1117=) c.656-860T>C (n.656-860T>C) c.3282T>C (p.Pro1094=) c.3345T>C (p.Pro1115=) c.3333T>C (p.Pro1111=) | |
2 | g.144389742A>T | CA429441182 | ZEB2 | c.*3203T>A (n.*3203T>A) c.2577T>A (p.Pro859=) c.3354T>A (p.Pro1118=) c.3242T>A (p.Leu1081His) n.3323T>A c.3018T>A (p.Pro1006=) c.3429T>A (p.Pro1143=) c.*3071T>A (n.*3071T>A) n.3454T>A c.151+6670T>A (n.151+6670T>A) c.574T>A (n.574T>A) c.885T>A (p.Pro295=) c.3351T>A (p.Pro1117=) c.656-860T>A (n.656-860T>A) c.3282T>A (p.Pro1094=) c.3345T>A (p.Pro1115=) c.3333T>A (p.Pro1111=) | gnomAD v4 |
2 | g.144389743G>A | CA348699523 | ZEB2 | c.*3202C>T (n.*3202C>T) c.2576C>T (p.Pro859Leu) c.3353C>T (p.Pro1118Leu) c.3241C>T (p.Leu1081Phe) n.3322C>T c.3017C>T (p.Pro1006Leu) c.3428C>T (p.Pro1143Leu) c.*3070C>T (n.*3070C>T) n.3453C>T c.151+6669C>T (n.151+6669C>T) c.573C>T (n.573C>T) c.884C>T (p.Pro295Leu) c.3350C>T (p.Pro1117Leu) c.656-861C>T (n.656-861C>T) c.3281C>T (p.Pro1094Leu) c.3344C>T (p.Pro1115Leu) c.3332C>T (p.Pro1111Leu) | ClinVar dbSNP |
2 | g.144389743G>C | CA348699525 | ZEB2 | c.*3202C>G (n.*3202C>G) c.2576C>G (p.Pro859Arg) c.3353C>G (p.Pro1118Arg) c.3241C>G (p.Leu1081Val) n.3322C>G c.3017C>G (p.Pro1006Arg) c.3428C>G (p.Pro1143Arg) c.*3070C>G (n.*3070C>G) n.3453C>G c.151+6669C>G (n.151+6669C>G) c.573C>G (n.573C>G) c.884C>G (p.Pro295Arg) c.3350C>G (p.Pro1117Arg) c.656-861C>G (n.656-861C>G) c.3281C>G (p.Pro1094Arg) c.3344C>G (p.Pro1115Arg) c.3332C>G (p.Pro1111Arg) | |
2 | g.144389743G= | CA1294881317 | ZEB2 | c.*3202C= (n.*3202C=) c.2576C= (p.Pro859=) c.3353C= (p.Pro1118=) c.3241C= (p.Leu1081=) n.3322C= c.3017C= (p.Pro1006=) c.3428C= (p.Pro1143=) c.*3070C= (n.*3070C=) n.3453C= c.151+6669C= (n.151+6669C=) c.573C= (n.573C=) c.884C= (p.Pro295=) c.3350C= (p.Pro1117=) c.656-861C= (n.656-861C=) c.3281C= (p.Pro1094=) c.3344C= (p.Pro1115=) c.3332C= (p.Pro1111=) | |
2 | g.144389743G>T | CA1898124 | ZEB2 | c.*3202C>A (n.*3202C>A) c.2576C>A (p.Pro859His) c.3353C>A (p.Pro1118His) c.3241C>A (p.Leu1081Ile) n.3322C>A c.3017C>A (p.Pro1006His) c.3428C>A (p.Pro1143His) c.*3070C>A (n.*3070C>A) n.3453C>A c.151+6669C>A (n.151+6669C>A) c.573C>A (n.573C>A) c.884C>A (p.Pro295His) c.3350C>A (p.Pro1117His) c.656-861C>A (n.656-861C>A) c.3281C>A (p.Pro1094His) c.3344C>A (p.Pro1115His) c.3332C>A (p.Pro1111His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.144389746dup | CA2842676106 | ZEB2 | c.*3202dup (n.*3202dup) c.2576dup (p.Gln860SerfsTer5) c.3353dup (p.Gln1119SerfsTer5) c.3241dup (p.Leu1081ProfsTer?) n.3322dup c.3017dup (p.Gln1007SerfsTer5) c.3428dup (p.Gln1144SerfsTer5) c.*3070dup (n.*3070dup) n.3453dup c.151+6669dup (n.151+6669dup) c.573dup (n.573dup) c.884dup (p.Gln296SerfsTer5) c.3350dup (p.Gln1118SerfsTer5) c.656-861dup (n.656-861dup) c.3281dup (p.Gln1095SerfsTer5) c.3344dup (p.Gln1116SerfsTer5) c.3332dup (p.Gln1112SerfsTer5) | |
2 | g.144389746del | CA2586969979 | ZEB2 | c.*3202del (n.*3202del) c.2576del (p.Pro859LeufsTer?) c.3353del (p.Pro1118LeufsTer?) c.3241del (p.Leu1081SerfsTer5) n.3322del c.3017del (p.Pro1006LeufsTer?) c.3428del (p.Pro1143LeufsTer?) c.*3070del (n.*3070del) n.3453del c.151+6669del (n.151+6669del) c.573del (n.573del) c.884del (p.Pro295LeufsTer?) c.3350del (p.Pro1117LeufsTer?) c.656-861del (n.656-861del) c.3281del (p.Pro1094LeufsTer?) c.3344del (p.Pro1115LeufsTer?) c.3332del (p.Pro1111LeufsTer?) | |
2 | g.144389744G>A | CA348699528 | ZEB2 | c.*3201C>T (n.*3201C>T) c.2575C>T (p.Pro859Ser) c.3352C>T (p.Pro1118Ser) c.3240C>T (p.Pro1080=) n.3321C>T c.3016C>T (p.Pro1006Ser) c.3427C>T (p.Pro1143Ser) c.*3069C>T (n.*3069C>T) n.3452C>T c.151+6668C>T (n.151+6668C>T) c.572C>T (n.572C>T) c.883C>T (p.Pro295Ser) c.3349C>T (p.Pro1117Ser) c.656-862C>T (n.656-862C>T) c.3280C>T (p.Pro1094Ser) c.3343C>T (p.Pro1115Ser) c.3331C>T (p.Pro1111Ser) | ClinVar dbSNP gnomAD v4 |
2 | g.144389744G>C | CA348699529 | ZEB2 | c.*3201C>G (n.*3201C>G) c.2575C>G (p.Pro859Ala) c.3352C>G (p.Pro1118Ala) c.3240C>G (p.Pro1080=) n.3321C>G c.3016C>G (p.Pro1006Ala) c.3427C>G (p.Pro1143Ala) c.*3069C>G (n.*3069C>G) n.3452C>G c.151+6668C>G (n.151+6668C>G) c.572C>G (n.572C>G) c.883C>G (p.Pro295Ala) c.3349C>G (p.Pro1117Ala) c.656-862C>G (n.656-862C>G) c.3280C>G (p.Pro1094Ala) c.3343C>G (p.Pro1115Ala) c.3331C>G (p.Pro1111Ala) | |
2 | g.144389744G>T | CA348699531 | ZEB2 | c.*3201C>A (n.*3201C>A) c.2575C>A (p.Pro859Thr) c.3352C>A (p.Pro1118Thr) c.3240C>A (p.Pro1080=) n.3321C>A c.3016C>A (p.Pro1006Thr) c.3427C>A (p.Pro1143Thr) c.*3069C>A (n.*3069C>A) n.3452C>A c.151+6668C>A (n.151+6668C>A) c.572C>A (n.572C>A) c.883C>A (p.Pro295Thr) c.3349C>A (p.Pro1117Thr) c.656-862C>A (n.656-862C>A) c.3280C>A (p.Pro1094Thr) c.3343C>A (p.Pro1115Thr) c.3331C>A (p.Pro1111Thr) | |
2 | g.144389745G>A | CA1898125 | ZEB2 | c.*3200C>T (n.*3200C>T) c.2574C>T (p.Thr858=) c.3351C>T (p.Thr1117=) c.3239C>T (p.Pro1080Leu) n.3320C>T c.3015C>T (p.Thr1005=) c.3426C>T (p.Thr1142=) c.*3068C>T (n.*3068C>T) n.3451C>T c.151+6667C>T (n.151+6667C>T) c.571C>T (n.571C>T) c.882C>T (p.Thr294=) c.3348C>T (p.Thr1116=) c.656-863C>T (n.656-863C>T) c.3279C>T (p.Thr1093=) c.3342C>T (p.Thr1114=) c.3330C>T (p.Thr1110=) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
2 | g.144389745G>C | CA429441183 | ZEB2 | c.*3200C>G (n.*3200C>G) c.2574C>G (p.Thr858=) c.3351C>G (p.Thr1117=) c.3239C>G (p.Pro1080Arg) n.3320C>G c.3015C>G (p.Thr1005=) c.3426C>G (p.Thr1142=) c.*3068C>G (n.*3068C>G) n.3451C>G c.151+6667C>G (n.151+6667C>G) c.571C>G (n.571C>G) c.882C>G (p.Thr294=) c.3348C>G (p.Thr1116=) c.656-863C>G (n.656-863C>G) c.3279C>G (p.Thr1093=) c.3342C>G (p.Thr1114=) c.3330C>G (p.Thr1110=) | |
2 | g.144389745G= | CA1294881318 | ZEB2 | c.*3200C= (n.*3200C=) c.2574C= (p.Thr858=) c.3351C= (p.Thr1117=) c.3239C= (p.Pro1080=) n.3320C= c.3015C= (p.Thr1005=) c.3426C= (p.Thr1142=) c.*3068C= (n.*3068C=) n.3451C= c.151+6667C= (n.151+6667C=) c.571C= (n.571C=) c.882C= (p.Thr294=) c.3348C= (p.Thr1116=) c.656-863C= (n.656-863C=) c.3279C= (p.Thr1093=) c.3342C= (p.Thr1114=) c.3330C= (p.Thr1110=) | |
2 | g.144389745G>T | CA429441184 | ZEB2 | c.*3200C>A (n.*3200C>A) c.2574C>A (p.Thr858=) c.3351C>A (p.Thr1117=) c.3239C>A (p.Pro1080His) n.3320C>A c.3015C>A (p.Thr1005=) c.3426C>A (p.Thr1142=) c.*3068C>A (n.*3068C>A) n.3451C>A c.151+6667C>A (n.151+6667C>A) c.571C>A (n.571C>A) c.882C>A (p.Thr294=) c.3348C>A (p.Thr1116=) c.656-863C>A (n.656-863C>A) c.3279C>A (p.Thr1093=) c.3342C>A (p.Thr1114=) c.3330C>A (p.Thr1110=) | |
2 | g.144389746G>A | CA348699535 | ZEB2 | c.*3199C>T (n.*3199C>T) c.2573C>T (p.Thr858Ile) c.3350C>T (p.Thr1117Ile) c.3238C>T (p.Pro1080Ser) n.3319C>T c.3014C>T (p.Thr1005Ile) c.3425C>T (p.Thr1142Ile) c.*3067C>T (n.*3067C>T) n.3450C>T c.151+6666C>T (n.151+6666C>T) c.570C>T (n.570C>T) c.881C>T (p.Thr294Ile) c.3347C>T (p.Thr1116Ile) c.656-864C>T (n.656-864C>T) c.3278C>T (p.Thr1093Ile) c.3341C>T (p.Thr1114Ile) c.3329C>T (p.Thr1110Ile) | ClinVar dbSNP |
2 | g.144389746G>C | CA348699537 | ZEB2 | c.*3199C>G (n.*3199C>G) c.2573C>G (p.Thr858Ser) c.3350C>G (p.Thr1117Ser) c.3238C>G (p.Pro1080Ala) n.3319C>G c.3014C>G (p.Thr1005Ser) c.3425C>G (p.Thr1142Ser) c.*3067C>G (n.*3067C>G) n.3450C>G c.151+6666C>G (n.151+6666C>G) c.570C>G (n.570C>G) c.881C>G (p.Thr294Ser) c.3347C>G (p.Thr1116Ser) c.656-864C>G (n.656-864C>G) c.3278C>G (p.Thr1093Ser) c.3341C>G (p.Thr1114Ser) c.3329C>G (p.Thr1110Ser) | |
2 | g.144389746G= | CA1294881319 | ZEB2 | c.*3199C= (n.*3199C=) c.2573C= (p.Thr858=) c.3350C= (p.Thr1117=) c.3238C= (p.Pro1080=) n.3319C= c.3014C= (p.Thr1005=) c.3425C= (p.Thr1142=) c.*3067C= (n.*3067C=) n.3450C= c.151+6666C= (n.151+6666C=) c.570C= (n.570C=) c.881C= (p.Thr294=) c.3347C= (p.Thr1116=) c.656-864C= (n.656-864C=) c.3278C= (p.Thr1093=) c.3341C= (p.Thr1114=) c.3329C= (p.Thr1110=) | |
2 | g.144389746G>T | CA348699539 | ZEB2 | c.*3199C>A (n.*3199C>A) c.2573C>A (p.Thr858Asn) c.3350C>A (p.Thr1117Asn) c.3238C>A (p.Pro1080Thr) n.3319C>A c.3014C>A (p.Thr1005Asn) c.3425C>A (p.Thr1142Asn) c.*3067C>A (n.*3067C>A) n.3450C>A c.151+6666C>A (n.151+6666C>A) c.570C>A (n.570C>A) c.881C>A (p.Thr294Asn) c.3347C>A (p.Thr1116Asn) c.656-864C>A (n.656-864C>A) c.3278C>A (p.Thr1093Asn) c.3341C>A (p.Thr1114Asn) c.3329C>A (p.Thr1110Asn) | |
2 | g.144389747T>A | CA348699540 | ZEB2 | c.*3198A>T (n.*3198A>T) c.2572A>T (p.Thr858Ser) c.3349A>T (p.Thr1117Ser) c.3237A>T (p.Leu1079Phe) n.3318A>T c.3013A>T (p.Thr1005Ser) c.3424A>T (p.Thr1142Ser) c.*3066A>T (n.*3066A>T) n.3449A>T c.151+6665A>T (n.151+6665A>T) c.569A>T (n.569A>T) c.880A>T (p.Thr294Ser) c.3346A>T (p.Thr1116Ser) c.656-865A>T (n.656-865A>T) c.3277A>T (p.Thr1093Ser) c.3340A>T (p.Thr1114Ser) c.3328A>T (p.Thr1110Ser) | |
2 | g.144389747T>C | CA348699543 | ZEB2 | c.*3198A>G (n.*3198A>G) c.2572A>G (p.Thr858Ala) c.3349A>G (p.Thr1117Ala) c.3237A>G (p.Leu1079=) n.3318A>G c.3013A>G (p.Thr1005Ala) c.3424A>G (p.Thr1142Ala) c.*3066A>G (n.*3066A>G) n.3449A>G c.151+6665A>G (n.151+6665A>G) c.569A>G (n.569A>G) c.880A>G (p.Thr294Ala) c.3346A>G (p.Thr1116Ala) c.656-865A>G (n.656-865A>G) c.3277A>G (p.Thr1093Ala) c.3340A>G (p.Thr1114Ala) c.3328A>G (p.Thr1110Ala) | gnomAD v4 |
2 | g.144389747T>G | CA348699542 | ZEB2 | c.*3198A>C (n.*3198A>C) c.2572A>C (p.Thr858Pro) c.3349A>C (p.Thr1117Pro) c.3237A>C (p.Leu1079Phe) n.3318A>C c.3013A>C (p.Thr1005Pro) c.3424A>C (p.Thr1142Pro) c.*3066A>C (n.*3066A>C) n.3449A>C c.151+6665A>C (n.151+6665A>C) c.569A>C (n.569A>C) c.880A>C (p.Thr294Pro) c.3346A>C (p.Thr1116Pro) c.656-865A>C (n.656-865A>C) c.3277A>C (p.Thr1093Pro) c.3340A>C (p.Thr1114Pro) c.3328A>C (p.Thr1110Pro) | |
2 | g.144389748A= | CA1294881320 | ZEB2 | c.*3197T= (n.*3197T=) c.2571T= (p.Ile857=) c.3348T= (p.Ile1116=) c.3236T= (p.Leu1079=) n.3317T= c.3012T= (p.Ile1004=) c.3423T= (p.Ile1141=) c.*3065T= (n.*3065T=) n.3448T= c.151+6664T= (n.151+6664T=) c.568T= (n.568T=) c.879T= (p.Ile293=) c.3345T= (p.Ile1115=) c.656-866T= (n.656-866T=) c.3276T= (p.Ile1092=) c.3339T= (p.Ile1113=) c.3327T= (p.Ile1109=) | |
2 | g.144389748A>C | CA348699545 | ZEB2 | c.*3197T>G (n.*3197T>G) c.2571T>G (p.Ile857Met) c.3348T>G (p.Ile1116Met) c.3236T>G (p.Leu1079Ter) n.3317T>G c.3012T>G (p.Ile1004Met) c.3423T>G (p.Ile1141Met) c.*3065T>G (n.*3065T>G) n.3448T>G c.151+6664T>G (n.151+6664T>G) c.568T>G (n.568T>G) c.879T>G (p.Ile293Met) c.3345T>G (p.Ile1115Met) c.656-866T>G (n.656-866T>G) c.3276T>G (p.Ile1092Met) c.3339T>G (p.Ile1113Met) c.3327T>G (p.Ile1109Met) | |
2 | g.144389748A>G | CA429441186 | ZEB2 | c.*3197T>C (n.*3197T>C) c.2571T>C (p.Ile857=) c.3348T>C (p.Ile1116=) c.3236T>C (p.Leu1079Ser) n.3317T>C c.3012T>C (p.Ile1004=) c.3423T>C (p.Ile1141=) c.*3065T>C (n.*3065T>C) n.3448T>C c.151+6664T>C (n.151+6664T>C) c.568T>C (n.568T>C) c.879T>C (p.Ile293=) c.3345T>C (p.Ile1115=) c.656-866T>C (n.656-866T>C) c.3276T>C (p.Ile1092=) c.3339T>C (p.Ile1113=) c.3327T>C (p.Ile1109=) | dbSNP gnomAD v2 COSMIC |
2 | g.144389748A>T | CA429441185 | ZEB2 | c.*3197T>A (n.*3197T>A) c.2571T>A (p.Ile857=) c.3348T>A (p.Ile1116=) c.3236T>A (p.Leu1079Ter) n.3317T>A c.3012T>A (p.Ile1004=) c.3423T>A (p.Ile1141=) c.*3065T>A (n.*3065T>A) n.3448T>A c.151+6664T>A (n.151+6664T>A) c.568T>A (n.568T>A) c.879T>A (p.Ile293=) c.3345T>A (p.Ile1115=) c.656-866T>A (n.656-866T>A) c.3276T>A (p.Ile1092=) c.3339T>A (p.Ile1113=) c.3327T>A (p.Ile1109=) | |
2 | g.144389749A>C | CA348699546 | ZEB2 | c.*3196T>G (n.*3196T>G) c.2570T>G (p.Ile857Ser) c.3347T>G (p.Ile1116Ser) c.3235T>G (p.Leu1079Val) n.3316T>G c.3011T>G (p.Ile1004Ser) c.3422T>G (p.Ile1141Ser) c.*3064T>G (n.*3064T>G) n.3447T>G c.151+6663T>G (n.151+6663T>G) c.567T>G (n.567T>G) c.878T>G (p.Ile293Ser) c.3344T>G (p.Ile1115Ser) c.656-867T>G (n.656-867T>G) c.3275T>G (p.Ile1092Ser) c.3338T>G (p.Ile1113Ser) c.3326T>G (p.Ile1109Ser) | |
2 | g.144389749A>G | CA348699547 | ZEB2 | c.*3196T>C (n.*3196T>C) c.2570T>C (p.Ile857Thr) c.3347T>C (p.Ile1116Thr) c.3235T>C (p.Leu1079=) n.3316T>C c.3011T>C (p.Ile1004Thr) c.3422T>C (p.Ile1141Thr) c.*3064T>C (n.*3064T>C) n.3447T>C c.151+6663T>C (n.151+6663T>C) c.567T>C (n.567T>C) c.878T>C (p.Ile293Thr) c.3344T>C (p.Ile1115Thr) c.656-867T>C (n.656-867T>C) c.3275T>C (p.Ile1092Thr) c.3338T>C (p.Ile1113Thr) c.3326T>C (p.Ile1109Thr) | |
2 | g.144389749A>T | CA348699548 | ZEB2 | c.*3196T>A (n.*3196T>A) c.2570T>A (p.Ile857Asn) c.3347T>A (p.Ile1116Asn) c.3235T>A (p.Leu1079Ile) n.3316T>A c.3011T>A (p.Ile1004Asn) c.3422T>A (p.Ile1141Asn) c.*3064T>A (n.*3064T>A) n.3447T>A c.151+6663T>A (n.151+6663T>A) c.567T>A (n.567T>A) c.878T>A (p.Ile293Asn) c.3344T>A (p.Ile1115Asn) c.656-867T>A (n.656-867T>A) c.3275T>A (p.Ile1092Asn) c.3338T>A (p.Ile1113Asn) c.3326T>A (p.Ile1109Asn) | |
2 | g.144389749_144389751del | CA2577152072 | ZEB2 | c.*3194_*3196del (n.*3194_*3196del) c.2568_2570del (p.Ile857del) c.3345_3347del (p.Ile1116del) c.3233_3235del (p.Ala1078_Leu1079delinsVal) n.3314_3316del c.3009_3011del (p.Ile1004del) c.3420_3422del (p.Ile1141del) c.*3062_*3064del (n.*3062_*3064del) n.3445_3447del c.151+6661_151+6663del (n.151+6661_151+6663del) c.565_567del (n.565_567del) c.876_878del (p.Ile293del) c.3342_3344del (p.Ile1115del) c.656-869_656-867del (n.656-869_656-867del) c.3273_3275del (p.Ile1092del) c.3336_3338del (p.Ile1113del) c.3324_3326del (p.Ile1109del) |