UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.144389544_144389547delinsCTCT | CA1294881242 | ZEB2 | c.*3398_*3401delinsAGAG (n.*3398_*3401delinsAGAG) c.2772_2775delinsAGAG (p.Glu924=) c.3549_3552delinsAGAG (p.Glu1183=) c.3437_3440delinsAGAG (p.Lys1146=) n.3518_3521delinsAGAG c.3213_3216delinsAGAG (p.Glu1071=) c.3624_3627delinsAGAG (p.Glu1208=) c.*3266_*3269delinsAGAG (n.*3266_*3269delinsAGAG) n.3649_3652delinsAGAG c.151+6865_151+6868delinsAGAG (n.151+6865_151+6868delinsAGAG) c.769_772delinsAGAG (n.769_772delinsAGAG) c.1080_1083delinsAGAG (p.Glu360=) c.3546_3549delinsAGAG (p.Glu1182=) c.656-665_656-662delinsAGAG (n.656-665_656-662delinsAGAG) c.3477_3480delinsAGAG (p.Glu1159=) c.3540_3543delinsAGAG (p.Glu1180=) c.3528_3531delinsAGAG (p.Glu1176=) | |
| 2 | g.144389545T>A | CA348699005 | ZEB2 | c.*3400A>T (n.*3400A>T) c.2774A>T (p.Glu925Val) c.3551A>T (p.Glu1184Val) c.3439A>T (p.Arg1147Ter) n.3520A>T c.3215A>T (p.Glu1072Val) c.3626A>T (p.Glu1209Val) c.*3268A>T (n.*3268A>T) n.3651A>T c.151+6867A>T (n.151+6867A>T) c.771A>T (n.771A>T) c.1082A>T (p.Glu361Val) c.3548A>T (p.Glu1183Val) c.656-663A>T (n.656-663A>T) c.3479A>T (p.Glu1160Val) c.3542A>T (p.Glu1181Val) c.3530A>T (p.Glu1177Val) | |
| 2 | g.144389545T>C | CA348699002 | ZEB2 | c.*3400A>G (n.*3400A>G) c.2774A>G (p.Glu925Gly) c.3551A>G (p.Glu1184Gly) c.3439A>G (p.Arg1147Gly) n.3520A>G c.3215A>G (p.Glu1072Gly) c.3626A>G (p.Glu1209Gly) c.*3268A>G (n.*3268A>G) n.3651A>G c.151+6867A>G (n.151+6867A>G) c.771A>G (n.771A>G) c.1082A>G (p.Glu361Gly) c.3548A>G (p.Glu1183Gly) c.656-663A>G (n.656-663A>G) c.3479A>G (p.Glu1160Gly) c.3542A>G (p.Glu1181Gly) c.3530A>G (p.Glu1177Gly) | |
| 2 | g.144389545T>G | CA348699000 | ZEB2 | c.*3400A>C (n.*3400A>C) c.2774A>C (p.Glu925Ala) c.3551A>C (p.Glu1184Ala) c.3439A>C (p.Arg1147=) n.3520A>C c.3215A>C (p.Glu1072Ala) c.3626A>C (p.Glu1209Ala) c.*3268A>C (n.*3268A>C) n.3651A>C c.151+6867A>C (n.151+6867A>C) c.771A>C (n.771A>C) c.1082A>C (p.Glu361Ala) c.3548A>C (p.Glu1183Ala) c.656-663A>C (n.656-663A>C) c.3479A>C (p.Glu1160Ala) c.3542A>C (p.Glu1181Ala) c.3530A>C (p.Glu1177Ala) | |
| 2 | g.144389550_144389552del | CA1898104 | ZEB2 | c.*3398_*3400del (n.*3398_*3400del) c.2772_2774del (p.Glu925del) c.3549_3551del (p.Glu1184del) c.3437_3439del (p.Lys1146del) n.3518_3520del c.3213_3215del (p.Glu1072del) c.3624_3626del (p.Glu1209del) c.*3266_*3268del (n.*3266_*3268del) n.3649_3651del c.151+6865_151+6867del (n.151+6865_151+6867del) c.769_771del (n.769_771del) c.1080_1082del (p.Glu361del) c.3546_3548del (p.Glu1183del) c.656-665_656-663del (n.656-665_656-663del) c.3477_3479del (p.Glu1160del) c.3540_3542del (p.Glu1181del) c.3528_3530del (p.Glu1177del) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 2 | g.144389546C>A | CA348699008 | ZEB2 | c.*3399G>T (n.*3399G>T) c.2773G>T (p.Glu925Ter) c.3550G>T (p.Glu1184Ter) c.3438G>T (p.Lys1146Asn) n.3519G>T c.3214G>T (p.Glu1072Ter) c.3625G>T (p.Glu1209Ter) c.*3267G>T (n.*3267G>T) n.3650G>T c.151+6866G>T (n.151+6866G>T) c.770G>T (n.770G>T) c.1081G>T (p.Glu361Ter) c.3547G>T (p.Glu1183Ter) c.656-664G>T (n.656-664G>T) c.3478G>T (p.Glu1160Ter) c.3541G>T (p.Glu1181Ter) c.3529G>T (p.Glu1177Ter) | |
| 2 | g.144389546C>G | CA348699010 | ZEB2 | c.*3399G>C (n.*3399G>C) c.2773G>C (p.Glu925Gln) c.3550G>C (p.Glu1184Gln) c.3438G>C (p.Lys1146Asn) n.3519G>C c.3214G>C (p.Glu1072Gln) c.3625G>C (p.Glu1209Gln) c.*3267G>C (n.*3267G>C) n.3650G>C c.151+6866G>C (n.151+6866G>C) c.770G>C (n.770G>C) c.1081G>C (p.Glu361Gln) c.3547G>C (p.Glu1183Gln) c.656-664G>C (n.656-664G>C) c.3478G>C (p.Glu1160Gln) c.3541G>C (p.Glu1181Gln) c.3529G>C (p.Glu1177Gln) | |
| 2 | g.144389546C>T | CA348699012 | ZEB2 | c.*3399G>A (n.*3399G>A) c.2773G>A (p.Glu925Lys) c.3550G>A (p.Glu1184Lys) c.3438G>A (p.Lys1146=) n.3519G>A c.3214G>A (p.Glu1072Lys) c.3625G>A (p.Glu1209Lys) c.*3267G>A (n.*3267G>A) n.3650G>A c.151+6866G>A (n.151+6866G>A) c.770G>A (n.770G>A) c.1081G>A (p.Glu361Lys) c.3547G>A (p.Glu1183Lys) c.656-664G>A (n.656-664G>A) c.3478G>A (p.Glu1160Lys) c.3541G>A (p.Glu1181Lys) c.3529G>A (p.Glu1177Lys) | |
| 2 | g.144389547T>A | CA348699015 | ZEB2 | c.*3398A>T (n.*3398A>T) c.2772A>T (p.Glu924Asp) c.3549A>T (p.Glu1183Asp) c.3437A>T (p.Lys1146Met) n.3518A>T c.3213A>T (p.Glu1071Asp) c.3624A>T (p.Glu1208Asp) c.*3266A>T (n.*3266A>T) n.3649A>T c.151+6865A>T (n.151+6865A>T) c.769A>T (n.769A>T) c.1080A>T (p.Glu360Asp) c.3546A>T (p.Glu1182Asp) c.656-665A>T (n.656-665A>T) c.3477A>T (p.Glu1159Asp) c.3540A>T (p.Glu1180Asp) c.3528A>T (p.Glu1176Asp) | |
| 2 | g.144389547T>C | CA429441073 | ZEB2 | c.*3398A>G (n.*3398A>G) c.2772A>G (p.Glu924=) c.3549A>G (p.Glu1183=) c.3437A>G (p.Lys1146Arg) n.3518A>G c.3213A>G (p.Glu1071=) c.3624A>G (p.Glu1208=) c.*3266A>G (n.*3266A>G) n.3649A>G c.151+6865A>G (n.151+6865A>G) c.769A>G (n.769A>G) c.1080A>G (p.Glu360=) c.3546A>G (p.Glu1182=) c.656-665A>G (n.656-665A>G) c.3477A>G (p.Glu1159=) c.3540A>G (p.Glu1180=) c.3528A>G (p.Glu1176=) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.144389547T>G | CA348699017 | ZEB2 | c.*3398A>C (n.*3398A>C) c.2772A>C (p.Glu924Asp) c.3549A>C (p.Glu1183Asp) c.3437A>C (p.Lys1146Thr) n.3518A>C c.3213A>C (p.Glu1071Asp) c.3624A>C (p.Glu1208Asp) c.*3266A>C (n.*3266A>C) n.3649A>C c.151+6865A>C (n.151+6865A>C) c.769A>C (n.769A>C) c.1080A>C (p.Glu360Asp) c.3546A>C (p.Glu1182Asp) c.656-665A>C (n.656-665A>C) c.3477A>C (p.Glu1159Asp) c.3540A>C (p.Glu1180Asp) c.3528A>C (p.Glu1176Asp) | |
| 2 | g.144389547T= | CA1294881244 | ZEB2 | c.*3398A= (n.*3398A=) c.2772A= (p.Glu924=) c.3549A= (p.Glu1183=) c.3437A= (p.Lys1146=) n.3518A= c.3213A= (p.Glu1071=) c.3624A= (p.Glu1208=) c.*3266A= (n.*3266A=) n.3649A= c.151+6865A= (n.151+6865A=) c.769A= (n.769A=) c.1080A= (p.Glu360=) c.3546A= (p.Glu1182=) c.656-665A= (n.656-665A=) c.3477A= (p.Glu1159=) c.3540A= (p.Glu1180=) c.3528A= (p.Glu1176=) | |
| 2 | g.144389548T>A | CA348699019 | ZEB2 | c.*3397A>T (n.*3397A>T) c.2771A>T (p.Glu924Val) c.3548A>T (p.Glu1183Val) c.3436A>T (p.Lys1146Ter) n.3517A>T c.3212A>T (p.Glu1071Val) c.3623A>T (p.Glu1208Val) c.*3265A>T (n.*3265A>T) n.3648A>T c.151+6864A>T (n.151+6864A>T) c.768A>T (n.768A>T) c.1079A>T (p.Glu360Val) c.3545A>T (p.Glu1182Val) c.656-666A>T (n.656-666A>T) c.3476A>T (p.Glu1159Val) c.3539A>T (p.Glu1180Val) c.3527A>T (p.Glu1176Val) | dbSNP |
| 2 | g.144389548T>C | CA57549230 | ZEB2 | c.*3397A>G (n.*3397A>G) c.2771A>G (p.Glu924Gly) c.3548A>G (p.Glu1183Gly) c.3436A>G (p.Lys1146Glu) n.3517A>G c.3212A>G (p.Glu1071Gly) c.3623A>G (p.Glu1208Gly) c.*3265A>G (n.*3265A>G) n.3648A>G c.151+6864A>G (n.151+6864A>G) c.768A>G (n.768A>G) c.1079A>G (p.Glu360Gly) c.3545A>G (p.Glu1182Gly) c.656-666A>G (n.656-666A>G) c.3476A>G (p.Glu1159Gly) c.3539A>G (p.Glu1180Gly) c.3527A>G (p.Glu1176Gly) | dbSNP |
| 2 | g.144389548T>G | CA348699023 | ZEB2 | c.*3397A>C (n.*3397A>C) c.2771A>C (p.Glu924Ala) c.3548A>C (p.Glu1183Ala) c.3436A>C (p.Lys1146Gln) n.3517A>C c.3212A>C (p.Glu1071Ala) c.3623A>C (p.Glu1208Ala) c.*3265A>C (n.*3265A>C) n.3648A>C c.151+6864A>C (n.151+6864A>C) c.768A>C (n.768A>C) c.1079A>C (p.Glu360Ala) c.3545A>C (p.Glu1182Ala) c.656-666A>C (n.656-666A>C) c.3476A>C (p.Glu1159Ala) c.3539A>C (p.Glu1180Ala) c.3527A>C (p.Glu1176Ala) | |
| 2 | g.144389548T= | CA1294881245 | ZEB2 | c.*3397A= (n.*3397A=) c.2771A= (p.Glu924=) c.3548A= (p.Glu1183=) c.3436A= (p.Lys1146=) n.3517A= c.3212A= (p.Glu1071=) c.3623A= (p.Glu1208=) c.*3265A= (n.*3265A=) n.3648A= c.151+6864A= (n.151+6864A=) c.768A= (n.768A=) c.1079A= (p.Glu360=) c.3545A= (p.Glu1182=) c.656-666A= (n.656-666A=) c.3476A= (p.Glu1159=) c.3539A= (p.Glu1180=) c.3527A= (p.Glu1176=) | |
| 2 | g.144389549C>A | CA348699025 | ZEB2 | c.*3396G>T (n.*3396G>T) c.2770G>T (p.Glu924Ter) c.3547G>T (p.Glu1183Ter) c.3435G>T (p.Lys1145Asn) n.3516G>T c.3211G>T (p.Glu1071Ter) c.3622G>T (p.Glu1208Ter) c.*3264G>T (n.*3264G>T) n.3647G>T c.151+6863G>T (n.151+6863G>T) c.767G>T (n.767G>T) c.1078G>T (p.Glu360Ter) c.3544G>T (p.Glu1182Ter) c.656-667G>T (n.656-667G>T) c.3475G>T (p.Glu1159Ter) c.3538G>T (p.Glu1180Ter) c.3526G>T (p.Glu1176Ter) | |
| 2 | g.144389549C= | CA1294881246 | ZEB2 | c.*3396G= (n.*3396G=) c.2770G= (p.Glu924=) c.3547G= (p.Glu1183=) c.3435G= (p.Lys1145=) n.3516G= c.3211G= (p.Glu1071=) c.3622G= (p.Glu1208=) c.*3264G= (n.*3264G=) n.3647G= c.151+6863G= (n.151+6863G=) c.767G= (n.767G=) c.1078G= (p.Glu360=) c.3544G= (p.Glu1182=) c.656-667G= (n.656-667G=) c.3475G= (p.Glu1159=) c.3538G= (p.Glu1180=) c.3526G= (p.Glu1176=) | |
| 2 | g.144389549C>G | CA348699028 | ZEB2 | c.*3396G>C (n.*3396G>C) c.2770G>C (p.Glu924Gln) c.3547G>C (p.Glu1183Gln) c.3435G>C (p.Lys1145Asn) n.3516G>C c.3211G>C (p.Glu1071Gln) c.3622G>C (p.Glu1208Gln) c.*3264G>C (n.*3264G>C) n.3647G>C c.151+6863G>C (n.151+6863G>C) c.767G>C (n.767G>C) c.1078G>C (p.Glu360Gln) c.3544G>C (p.Glu1182Gln) c.656-667G>C (n.656-667G>C) c.3475G>C (p.Glu1159Gln) c.3538G>C (p.Glu1180Gln) c.3526G>C (p.Glu1176Gln) | dbSNP |
| 2 | g.144389549C>T | CA348699030 | ZEB2 | c.*3396G>A (n.*3396G>A) c.2770G>A (p.Glu924Lys) c.3547G>A (p.Glu1183Lys) c.3435G>A (p.Lys1145=) n.3516G>A c.3211G>A (p.Glu1071Lys) c.3622G>A (p.Glu1208Lys) c.*3264G>A (n.*3264G>A) n.3647G>A c.151+6863G>A (n.151+6863G>A) c.767G>A (n.767G>A) c.1078G>A (p.Glu360Lys) c.3544G>A (p.Glu1182Lys) c.656-667G>A (n.656-667G>A) c.3475G>A (p.Glu1159Lys) c.3538G>A (p.Glu1180Lys) c.3526G>A (p.Glu1176Lys) | COSMIC |
| 2 | g.144389550T>A | CA348699033 | ZEB2 | c.*3395A>T (n.*3395A>T) c.2769A>T (p.Glu923Asp) c.3546A>T (p.Glu1182Asp) c.3434A>T (p.Lys1145Met) n.3515A>T c.3210A>T (p.Glu1070Asp) c.3621A>T (p.Glu1207Asp) c.*3263A>T (n.*3263A>T) n.3646A>T c.151+6862A>T (n.151+6862A>T) c.766A>T (n.766A>T) c.1077A>T (p.Glu359Asp) c.3543A>T (p.Glu1181Asp) c.656-668A>T (n.656-668A>T) c.3474A>T (p.Glu1158Asp) c.3537A>T (p.Glu1179Asp) c.3525A>T (p.Glu1175Asp) | |
| 2 | g.144389550T>C | CA429441074 | ZEB2 | c.*3395A>G (n.*3395A>G) c.2769A>G (p.Glu923=) c.3546A>G (p.Glu1182=) c.3434A>G (p.Lys1145Arg) n.3515A>G c.3210A>G (p.Glu1070=) c.3621A>G (p.Glu1207=) c.*3263A>G (n.*3263A>G) n.3646A>G c.151+6862A>G (n.151+6862A>G) c.766A>G (n.766A>G) c.1077A>G (p.Glu359=) c.3543A>G (p.Glu1181=) c.656-668A>G (n.656-668A>G) c.3474A>G (p.Glu1158=) c.3537A>G (p.Glu1179=) c.3525A>G (p.Glu1175=) | gnomAD v4 |
| 2 | g.144389550T>G | CA348699034 | ZEB2 | c.*3395A>C (n.*3395A>C) c.2769A>C (p.Glu923Asp) c.3546A>C (p.Glu1182Asp) c.3434A>C (p.Lys1145Thr) n.3515A>C c.3210A>C (p.Glu1070Asp) c.3621A>C (p.Glu1207Asp) c.*3263A>C (n.*3263A>C) n.3646A>C c.151+6862A>C (n.151+6862A>C) c.766A>C (n.766A>C) c.1077A>C (p.Glu359Asp) c.3543A>C (p.Glu1181Asp) c.656-668A>C (n.656-668A>C) c.3474A>C (p.Glu1158Asp) c.3537A>C (p.Glu1179Asp) c.3525A>C (p.Glu1175Asp) | |
| 2 | g.144389551T>A | CA348699039 | ZEB2 | c.*3394A>T (n.*3394A>T) c.2768A>T (p.Glu923Val) c.3545A>T (p.Glu1182Val) c.3433A>T (p.Lys1145Ter) n.3514A>T c.3209A>T (p.Glu1070Val) c.3620A>T (p.Glu1207Val) c.*3262A>T (n.*3262A>T) n.3645A>T c.151+6861A>T (n.151+6861A>T) c.765A>T (n.765A>T) c.1076A>T (p.Glu359Val) c.3542A>T (p.Glu1181Val) c.656-669A>T (n.656-669A>T) c.3473A>T (p.Glu1158Val) c.3536A>T (p.Glu1179Val) c.3524A>T (p.Glu1175Val) | |
| 2 | g.144389551T>C | CA348699041 | ZEB2 | c.*3394A>G (n.*3394A>G) c.2768A>G (p.Glu923Gly) c.3545A>G (p.Glu1182Gly) c.3433A>G (p.Lys1145Glu) n.3514A>G c.3209A>G (p.Glu1070Gly) c.3620A>G (p.Glu1207Gly) c.*3262A>G (n.*3262A>G) n.3645A>G c.151+6861A>G (n.151+6861A>G) c.765A>G (n.765A>G) c.1076A>G (p.Glu359Gly) c.3542A>G (p.Glu1181Gly) c.656-669A>G (n.656-669A>G) c.3473A>G (p.Glu1158Gly) c.3536A>G (p.Glu1179Gly) c.3524A>G (p.Glu1175Gly) | |
| 2 | g.144389551T>G | CA348699037 | ZEB2 | c.*3394A>C (n.*3394A>C) c.2768A>C (p.Glu923Ala) c.3545A>C (p.Glu1182Ala) c.3433A>C (p.Lys1145Gln) n.3514A>C c.3209A>C (p.Glu1070Ala) c.3620A>C (p.Glu1207Ala) c.*3262A>C (n.*3262A>C) n.3645A>C c.151+6861A>C (n.151+6861A>C) c.765A>C (n.765A>C) c.1076A>C (p.Glu359Ala) c.3542A>C (p.Glu1181Ala) c.656-669A>C (n.656-669A>C) c.3473A>C (p.Glu1158Ala) c.3536A>C (p.Glu1179Ala) c.3524A>C (p.Glu1175Ala) | |
| 2 | g.144389551_144389552delinsTC | CA1294881247 | ZEB2 | c.*3393_*3394delinsGA (n.*3393_*3394delinsGA) c.2767_2768delinsGA (p.Glu923=) c.3544_3545delinsGA (p.Glu1182=) c.3432_3433delinsGA (p.Met1144=) n.3513_3514delinsGA c.3208_3209delinsGA (p.Glu1070=) c.3619_3620delinsGA (p.Glu1207=) c.*3261_*3262delinsGA (n.*3261_*3262delinsGA) n.3644_3645delinsGA c.151+6860_151+6861delinsGA (n.151+6860_151+6861delinsGA) c.764_765delinsGA (n.764_765delinsGA) c.1075_1076delinsGA (p.Glu359=) c.3541_3542delinsGA (p.Glu1181=) c.656-670_656-669delinsGA (n.656-670_656-669delinsGA) c.3472_3473delinsGA (p.Glu1158=) c.3535_3536delinsGA (p.Glu1179=) c.3523_3524delinsGA (p.Glu1175=) | |
| 2 | g.144389552del | CA235588 | ZEB2 | c.*3393del (n.*3393del) c.2767del (p.Glu923LysfsTer?) c.3544del (p.Glu1182LysfsTer?) c.3432del (p.Met1144IlefsTer12) n.3513del c.3208del (p.Glu1070LysfsTer?) c.3619del (p.Glu1207LysfsTer?) c.*3261del (n.*3261del) n.3644del c.151+6860del (n.151+6860del) c.764del (n.764del) c.1075del (p.Glu359LysfsTer?) c.3541del (p.Glu1181LysfsTer?) c.656-670del (n.656-670del) c.3472del (p.Glu1158LysfsTer?) c.3535del (p.Glu1179LysfsTer?) c.3523del (p.Glu1175LysfsTer?) | ClinVar dbSNP |
| 2 | g.144389552C>A | CA348699047 | ZEB2 | c.*3393G>T (n.*3393G>T) c.2767G>T (p.Glu923Ter) c.3544G>T (p.Glu1182Ter) c.3432G>T (p.Met1144Ile) n.3513G>T c.3208G>T (p.Glu1070Ter) c.3619G>T (p.Glu1207Ter) c.*3261G>T (n.*3261G>T) n.3644G>T c.151+6860G>T (n.151+6860G>T) c.764G>T (n.764G>T) c.1075G>T (p.Glu359Ter) c.3541G>T (p.Glu1181Ter) c.656-670G>T (n.656-670G>T) c.3472G>T (p.Glu1158Ter) c.3535G>T (p.Glu1179Ter) c.3523G>T (p.Glu1175Ter) | |
| 2 | g.144389552C>G | CA348699045 | ZEB2 | c.*3393G>C (n.*3393G>C) c.2767G>C (p.Glu923Gln) c.3544G>C (p.Glu1182Gln) c.3432G>C (p.Met1144Ile) n.3513G>C c.3208G>C (p.Glu1070Gln) c.3619G>C (p.Glu1207Gln) c.*3261G>C (n.*3261G>C) n.3644G>C c.151+6860G>C (n.151+6860G>C) c.764G>C (n.764G>C) c.1075G>C (p.Glu359Gln) c.3541G>C (p.Glu1181Gln) c.656-670G>C (n.656-670G>C) c.3472G>C (p.Glu1158Gln) c.3535G>C (p.Glu1179Gln) c.3523G>C (p.Glu1175Gln) | |
| 2 | g.144389552C>T | CA348699050 | ZEB2 | c.*3393G>A (n.*3393G>A) c.2767G>A (p.Glu923Lys) c.3544G>A (p.Glu1182Lys) c.3432G>A (p.Met1144Ile) n.3513G>A c.3208G>A (p.Glu1070Lys) c.3619G>A (p.Glu1207Lys) c.*3261G>A (n.*3261G>A) n.3644G>A c.151+6860G>A (n.151+6860G>A) c.764G>A (n.764G>A) c.1075G>A (p.Glu359Lys) c.3541G>A (p.Glu1181Lys) c.656-670G>A (n.656-670G>A) c.3472G>A (p.Glu1158Lys) c.3535G>A (p.Glu1179Lys) c.3523G>A (p.Glu1175Lys) | |
| 2 | g.144389553A= | CA1294881248 | ZEB2 | c.*3392T= (n.*3392T=) c.2766T= (p.Asp922=) c.3543T= (p.Asp1181=) c.3431T= (p.Met1144=) n.3512T= c.3207T= (p.Asp1069=) c.3618T= (p.Asp1206=) c.*3260T= (n.*3260T=) n.3643T= c.151+6859T= (n.151+6859T=) c.763T= (n.763T=) c.1074T= (p.Asp358=) c.3540T= (p.Asp1180=) c.656-671T= (n.656-671T=) c.3471T= (p.Asp1157=) c.3534T= (p.Asp1178=) c.3522T= (p.Asp1174=) | |
| 2 | g.144389553A>C | CA348699051 | ZEB2 | c.*3392T>G (n.*3392T>G) c.2766T>G (p.Asp922Glu) c.3543T>G (p.Asp1181Glu) c.3431T>G (p.Met1144Arg) n.3512T>G c.3207T>G (p.Asp1069Glu) c.3618T>G (p.Asp1206Glu) c.*3260T>G (n.*3260T>G) n.3643T>G c.151+6859T>G (n.151+6859T>G) c.763T>G (n.763T>G) c.1074T>G (p.Asp358Glu) c.3540T>G (p.Asp1180Glu) c.656-671T>G (n.656-671T>G) c.3471T>G (p.Asp1157Glu) c.3534T>G (p.Asp1178Glu) c.3522T>G (p.Asp1174Glu) | |
| 2 | g.144389553A>G | CA429441075 | ZEB2 | c.*3392T>C (n.*3392T>C) c.2766T>C (p.Asp922=) c.3543T>C (p.Asp1181=) c.3431T>C (p.Met1144Thr) n.3512T>C c.3207T>C (p.Asp1069=) c.3618T>C (p.Asp1206=) c.*3260T>C (n.*3260T>C) n.3643T>C c.151+6859T>C (n.151+6859T>C) c.763T>C (n.763T>C) c.1074T>C (p.Asp358=) c.3540T>C (p.Asp1180=) c.656-671T>C (n.656-671T>C) c.3471T>C (p.Asp1157=) c.3534T>C (p.Asp1178=) c.3522T>C (p.Asp1174=) | |
| 2 | g.144389553A>T | CA348699052 | ZEB2 | c.*3392T>A (n.*3392T>A) c.2766T>A (p.Asp922Glu) c.3543T>A (p.Asp1181Glu) c.3431T>A (p.Met1144Lys) n.3512T>A c.3207T>A (p.Asp1069Glu) c.3618T>A (p.Asp1206Glu) c.*3260T>A (n.*3260T>A) n.3643T>A c.151+6859T>A (n.151+6859T>A) c.763T>A (n.763T>A) c.1074T>A (p.Asp358Glu) c.3540T>A (p.Asp1180Glu) c.656-671T>A (n.656-671T>A) c.3471T>A (p.Asp1157Glu) c.3534T>A (p.Asp1178Glu) c.3522T>A (p.Asp1174Glu) | dbSNP |
| 2 | g.144389554T>A | CA348699053 | ZEB2 | c.*3391A>T (n.*3391A>T) c.2765A>T (p.Asp922Val) c.3542A>T (p.Asp1181Val) c.3430A>T (p.Met1144Leu) n.3511A>T c.3206A>T (p.Asp1069Val) c.3617A>T (p.Asp1206Val) c.*3259A>T (n.*3259A>T) n.3642A>T c.151+6858A>T (n.151+6858A>T) c.762A>T (n.762A>T) c.1073A>T (p.Asp358Val) c.3539A>T (p.Asp1180Val) c.656-672A>T (n.656-672A>T) c.3470A>T (p.Asp1157Val) c.3533A>T (p.Asp1178Val) c.3521A>T (p.Asp1174Val) | |
| 2 | g.144389554T>C | CA348699054 | ZEB2 | c.*3391A>G (n.*3391A>G) c.2765A>G (p.Asp922Gly) c.3542A>G (p.Asp1181Gly) c.3430A>G (p.Met1144Val) n.3511A>G c.3206A>G (p.Asp1069Gly) c.3617A>G (p.Asp1206Gly) c.*3259A>G (n.*3259A>G) n.3642A>G c.151+6858A>G (n.151+6858A>G) c.762A>G (n.762A>G) c.1073A>G (p.Asp358Gly) c.3539A>G (p.Asp1180Gly) c.656-672A>G (n.656-672A>G) c.3470A>G (p.Asp1157Gly) c.3533A>G (p.Asp1178Gly) c.3521A>G (p.Asp1174Gly) | |
| 2 | g.144389554T>G | CA348699055 | ZEB2 | c.*3391A>C (n.*3391A>C) c.2765A>C (p.Asp922Ala) c.3542A>C (p.Asp1181Ala) c.3430A>C (p.Met1144Leu) n.3511A>C c.3206A>C (p.Asp1069Ala) c.3617A>C (p.Asp1206Ala) c.*3259A>C (n.*3259A>C) n.3642A>C c.151+6858A>C (n.151+6858A>C) c.762A>C (n.762A>C) c.1073A>C (p.Asp358Ala) c.3539A>C (p.Asp1180Ala) c.656-672A>C (n.656-672A>C) c.3470A>C (p.Asp1157Ala) c.3533A>C (p.Asp1178Ala) c.3521A>C (p.Asp1174Ala) | |
| 2 | g.144389555C>A | CA348699056 | ZEB2 | c.*3390G>T (n.*3390G>T) c.2764G>T (p.Asp922Tyr) c.3541G>T (p.Asp1181Tyr) c.3429G>T (p.Glu1143Asp) n.3510G>T c.3205G>T (p.Asp1069Tyr) c.3616G>T (p.Asp1206Tyr) c.*3258G>T (n.*3258G>T) n.3641G>T c.151+6857G>T (n.151+6857G>T) c.761G>T (n.761G>T) c.1072G>T (p.Asp358Tyr) c.3538G>T (p.Asp1180Tyr) c.656-673G>T (n.656-673G>T) c.3469G>T (p.Asp1157Tyr) c.3532G>T (p.Asp1178Tyr) c.3520G>T (p.Asp1174Tyr) | |
| 2 | g.144389555C>G | CA348699057 | ZEB2 | c.*3390G>C (n.*3390G>C) c.2764G>C (p.Asp922His) c.3541G>C (p.Asp1181His) c.3429G>C (p.Glu1143Asp) n.3510G>C c.3205G>C (p.Asp1069His) c.3616G>C (p.Asp1206His) c.*3258G>C (n.*3258G>C) n.3641G>C c.151+6857G>C (n.151+6857G>C) c.761G>C (n.761G>C) c.1072G>C (p.Asp358His) c.3538G>C (p.Asp1180His) c.656-673G>C (n.656-673G>C) c.3469G>C (p.Asp1157His) c.3532G>C (p.Asp1178His) c.3520G>C (p.Asp1174His) | |
| 2 | g.144389555C>T | CA348699058 | ZEB2 | c.*3390G>A (n.*3390G>A) c.2764G>A (p.Asp922Asn) c.3541G>A (p.Asp1181Asn) c.3429G>A (p.Glu1143=) n.3510G>A c.3205G>A (p.Asp1069Asn) c.3616G>A (p.Asp1206Asn) c.*3258G>A (n.*3258G>A) n.3641G>A c.151+6857G>A (n.151+6857G>A) c.761G>A (n.761G>A) c.1072G>A (p.Asp358Asn) c.3538G>A (p.Asp1180Asn) c.656-673G>A (n.656-673G>A) c.3469G>A (p.Asp1157Asn) c.3532G>A (p.Asp1178Asn) c.3520G>A (p.Asp1174Asn) | |
| 2 | g.144389556T>A | CA429441076 | ZEB2 | c.*3389A>T (n.*3389A>T) c.2763A>T (p.Arg921=) c.3540A>T (p.Arg1180=) c.3428A>T (p.Glu1143Val) n.3509A>T c.3204A>T (p.Arg1068=) c.3615A>T (p.Arg1205=) c.*3257A>T (n.*3257A>T) n.3640A>T c.151+6856A>T (n.151+6856A>T) c.760A>T (n.760A>T) c.1071A>T (p.Arg357=) c.3537A>T (p.Arg1179=) c.656-674A>T (n.656-674A>T) c.3468A>T (p.Arg1156=) c.3531A>T (p.Arg1177=) c.3519A>T (p.Arg1173=) | |
| 2 | g.144389556T>C | CA429441077 | ZEB2 | c.*3389A>G (n.*3389A>G) c.2763A>G (p.Arg921=) c.3540A>G (p.Arg1180=) c.3428A>G (p.Glu1143Gly) n.3509A>G c.3204A>G (p.Arg1068=) c.3615A>G (p.Arg1205=) c.*3257A>G (n.*3257A>G) n.3640A>G c.151+6856A>G (n.151+6856A>G) c.760A>G (n.760A>G) c.1071A>G (p.Arg357=) c.3537A>G (p.Arg1179=) c.656-674A>G (n.656-674A>G) c.3468A>G (p.Arg1156=) c.3531A>G (p.Arg1177=) c.3519A>G (p.Arg1173=) | |
| 2 | g.144389556T>G | CA429441078 | ZEB2 | c.*3389A>C (n.*3389A>C) c.2763A>C (p.Arg921=) c.3540A>C (p.Arg1180=) c.3428A>C (p.Glu1143Ala) n.3509A>C c.3204A>C (p.Arg1068=) c.3615A>C (p.Arg1205=) c.*3257A>C (n.*3257A>C) n.3640A>C c.151+6856A>C (n.151+6856A>C) c.760A>C (n.760A>C) c.1071A>C (p.Arg357=) c.3537A>C (p.Arg1179=) c.656-674A>C (n.656-674A>C) c.3468A>C (p.Arg1156=) c.3531A>C (p.Arg1177=) c.3519A>C (p.Arg1173=) | |
| 2 | g.144389557C>A | CA348699059 | ZEB2 | c.*3388G>T (n.*3388G>T) c.2762G>T (p.Arg921Leu) c.3539G>T (p.Arg1180Leu) c.3427G>T (p.Glu1143Ter) n.3508G>T c.3203G>T (p.Arg1068Leu) c.3614G>T (p.Arg1205Leu) c.*3256G>T (n.*3256G>T) n.3639G>T c.151+6855G>T (n.151+6855G>T) c.759G>T (n.759G>T) c.1070G>T (p.Arg357Leu) c.3536G>T (p.Arg1179Leu) c.656-675G>T (n.656-675G>T) c.3467G>T (p.Arg1156Leu) c.3530G>T (p.Arg1177Leu) c.3518G>T (p.Arg1173Leu) | |
| 2 | g.144389557C>G | CA348699060 | ZEB2 | c.*3388G>C (n.*3388G>C) c.2762G>C (p.Arg921Pro) c.3539G>C (p.Arg1180Pro) c.3427G>C (p.Glu1143Gln) n.3508G>C c.3203G>C (p.Arg1068Pro) c.3614G>C (p.Arg1205Pro) c.*3256G>C (n.*3256G>C) n.3639G>C c.151+6855G>C (n.151+6855G>C) c.759G>C (n.759G>C) c.1070G>C (p.Arg357Pro) c.3536G>C (p.Arg1179Pro) c.656-675G>C (n.656-675G>C) c.3467G>C (p.Arg1156Pro) c.3530G>C (p.Arg1177Pro) c.3518G>C (p.Arg1173Pro) | |
| 2 | g.144389557C>T | CA348699061 | ZEB2 | c.*3388G>A (n.*3388G>A) c.2762G>A (p.Arg921Gln) c.3539G>A (p.Arg1180Gln) c.3427G>A (p.Glu1143Lys) n.3508G>A c.3203G>A (p.Arg1068Gln) c.3614G>A (p.Arg1205Gln) c.*3256G>A (n.*3256G>A) n.3639G>A c.151+6855G>A (n.151+6855G>A) c.759G>A (n.759G>A) c.1070G>A (p.Arg357Gln) c.3536G>A (p.Arg1179Gln) c.656-675G>A (n.656-675G>A) c.3467G>A (p.Arg1156Gln) c.3530G>A (p.Arg1177Gln) c.3518G>A (p.Arg1173Gln) | ClinVar gnomAD v4 |
| 2 | g.144389558G>A | CA348699062 | ZEB2 | c.*3387C>T (n.*3387C>T) c.2761C>T (p.Arg921Ter) c.3538C>T (p.Arg1180Ter) c.3426C>T (p.Tyr1142=) n.3507C>T c.3202C>T (p.Arg1068Ter) c.3613C>T (p.Arg1205Ter) c.*3255C>T (n.*3255C>T) n.3638C>T c.151+6854C>T (n.151+6854C>T) c.758C>T (n.758C>T) c.1069C>T (p.Arg357Ter) c.3535C>T (p.Arg1179Ter) c.656-676C>T (n.656-676C>T) c.3466C>T (p.Arg1156Ter) c.3529C>T (p.Arg1177Ter) c.3517C>T (p.Arg1173Ter) | gnomAD v4 |
| 2 | g.144389558G>C | CA1898105 | ZEB2 | c.*3387C>G (n.*3387C>G) c.2761C>G (p.Arg921Gly) c.3538C>G (p.Arg1180Gly) c.3426C>G (p.Tyr1142Ter) n.3507C>G c.3202C>G (p.Arg1068Gly) c.3613C>G (p.Arg1205Gly) c.*3255C>G (n.*3255C>G) n.3638C>G c.151+6854C>G (n.151+6854C>G) c.758C>G (n.758C>G) c.1069C>G (p.Arg357Gly) c.3535C>G (p.Arg1179Gly) c.656-676C>G (n.656-676C>G) c.3466C>G (p.Arg1156Gly) c.3529C>G (p.Arg1177Gly) c.3517C>G (p.Arg1173Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.144389558G= | CA1294881249 | ZEB2 | c.*3387C= (n.*3387C=) c.2761C= (p.Arg921=) c.3538C= (p.Arg1180=) c.3426C= (p.Tyr1142=) n.3507C= c.3202C= (p.Arg1068=) c.3613C= (p.Arg1205=) c.*3255C= (n.*3255C=) n.3638C= c.151+6854C= (n.151+6854C=) c.758C= (n.758C=) c.1069C= (p.Arg357=) c.3535C= (p.Arg1179=) c.656-676C= (n.656-676C=) c.3466C= (p.Arg1156=) c.3529C= (p.Arg1177=) c.3517C= (p.Arg1173=) |