Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.144389645G>ACA429441130ZEB2c.*3300C>T (n.*3300C>T)
c.2674C>T (p.Leu892=)
c.3451C>T (p.Leu1151=)
c.3339C>T (p.Ser1113=)
n.3420C>T
c.3115C>T (p.Leu1039=)
c.3526C>T (p.Leu1176=)
c.*3168C>T (n.*3168C>T)
n.3551C>T
c.151+6767C>T (n.151+6767C>T)
c.671C>T (n.671C>T)
c.982C>T (p.Leu328=)
c.3448C>T (p.Leu1150=)
c.656-763C>T (n.656-763C>T)
c.3379C>T (p.Leu1127=)
c.3442C>T (p.Leu1148=)
c.3430C>T (p.Leu1144=)
 ClinVar dbSNP gnomAD v4
2g.144389645G>CCA348699273ZEB2c.*3300C>G (n.*3300C>G)
c.2674C>G (p.Leu892Val)
c.3451C>G (p.Leu1151Val)
c.3339C>G (p.Ser1113Arg)
n.3420C>G
c.3115C>G (p.Leu1039Val)
c.3526C>G (p.Leu1176Val)
c.*3168C>G (n.*3168C>G)
n.3551C>G
c.151+6767C>G (n.151+6767C>G)
c.671C>G (n.671C>G)
c.982C>G (p.Leu328Val)
c.3448C>G (p.Leu1150Val)
c.656-763C>G (n.656-763C>G)
c.3379C>G (p.Leu1127Val)
c.3442C>G (p.Leu1148Val)
c.3430C>G (p.Leu1144Val)
 ClinVar gnomAD v4
2g.144389645G=CA1294881282ZEB2c.*3300C= (n.*3300C=)
c.2674C= (p.Leu892=)
c.3451C= (p.Leu1151=)
c.3339C= (p.Ser1113=)
n.3420C=
c.3115C= (p.Leu1039=)
c.3526C= (p.Leu1176=)
c.*3168C= (n.*3168C=)
n.3551C=
c.151+6767C= (n.151+6767C=)
c.671C= (n.671C=)
c.982C= (p.Leu328=)
c.3448C= (p.Leu1150=)
c.656-763C= (n.656-763C=)
c.3379C= (p.Leu1127=)
c.3442C= (p.Leu1148=)
c.3430C= (p.Leu1144=)
2g.144389645G>TCA1898114ZEB2c.*3300C>A (n.*3300C>A)
c.2674C>A (p.Leu892Met)
c.3451C>A (p.Leu1151Met)
c.3339C>A (p.Ser1113Arg)
n.3420C>A
c.3115C>A (p.Leu1039Met)
c.3526C>A (p.Leu1176Met)
c.*3168C>A (n.*3168C>A)
n.3551C>A
c.151+6767C>A (n.151+6767C>A)
c.671C>A (n.671C>A)
c.982C>A (p.Leu328Met)
c.3448C>A (p.Leu1150Met)
c.656-763C>A (n.656-763C>A)
c.3379C>A (p.Leu1127Met)
c.3442C>A (p.Leu1148Met)
c.3430C>A (p.Leu1144Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.144389646C>ACA348699274ZEB2c.*3299G>T (n.*3299G>T)
c.2673G>T (p.Lys891Asn)
c.3450G>T (p.Lys1150Asn)
c.3338G>T (p.Ser1113Ile)
n.3419G>T
c.3114G>T (p.Lys1038Asn)
c.3525G>T (p.Lys1175Asn)
c.*3167G>T (n.*3167G>T)
n.3550G>T
c.151+6766G>T (n.151+6766G>T)
c.670G>T (n.670G>T)
c.981G>T (p.Lys327Asn)
c.3447G>T (p.Lys1149Asn)
c.656-764G>T (n.656-764G>T)
c.3378G>T (p.Lys1126Asn)
c.3441G>T (p.Lys1147Asn)
c.3429G>T (p.Lys1143Asn)
2g.144389646C>GCA348699275ZEB2c.*3299G>C (n.*3299G>C)
c.2673G>C (p.Lys891Asn)
c.3450G>C (p.Lys1150Asn)
c.3338G>C (p.Ser1113Thr)
n.3419G>C
c.3114G>C (p.Lys1038Asn)
c.3525G>C (p.Lys1175Asn)
c.*3167G>C (n.*3167G>C)
n.3550G>C
c.151+6766G>C (n.151+6766G>C)
c.670G>C (n.670G>C)
c.981G>C (p.Lys327Asn)
c.3447G>C (p.Lys1149Asn)
c.656-764G>C (n.656-764G>C)
c.3378G>C (p.Lys1126Asn)
c.3441G>C (p.Lys1147Asn)
c.3429G>C (p.Lys1143Asn)
2g.144389646C>TCA429441131ZEB2c.*3299G>A (n.*3299G>A)
c.2673G>A (p.Lys891=)
c.3450G>A (p.Lys1150=)
c.3338G>A (p.Ser1113Asn)
n.3419G>A
c.3114G>A (p.Lys1038=)
c.3525G>A (p.Lys1175=)
c.*3167G>A (n.*3167G>A)
n.3550G>A
c.151+6766G>A (n.151+6766G>A)
c.670G>A (n.670G>A)
c.981G>A (p.Lys327=)
c.3447G>A (p.Lys1149=)
c.656-764G>A (n.656-764G>A)
c.3378G>A (p.Lys1126=)
c.3441G>A (p.Lys1147=)
c.3429G>A (p.Lys1143=)
2g.144389647T>ACA348699276ZEB2c.*3298A>T (n.*3298A>T)
c.2672A>T (p.Lys891Met)
c.3449A>T (p.Lys1150Met)
c.3337A>T (p.Ser1113Cys)
n.3418A>T
c.3113A>T (p.Lys1038Met)
c.3524A>T (p.Lys1175Met)
c.*3166A>T (n.*3166A>T)
n.3549A>T
c.151+6765A>T (n.151+6765A>T)
c.669A>T (n.669A>T)
c.980A>T (p.Lys327Met)
c.3446A>T (p.Lys1149Met)
c.656-765A>T (n.656-765A>T)
c.3377A>T (p.Lys1126Met)
c.3440A>T (p.Lys1147Met)
c.3428A>T (p.Lys1143Met)
2g.144389647T>CCA348699277ZEB2c.*3298A>G (n.*3298A>G)
c.2672A>G (p.Lys891Arg)
c.3449A>G (p.Lys1150Arg)
c.3337A>G (p.Ser1113Gly)
n.3418A>G
c.3113A>G (p.Lys1038Arg)
c.3524A>G (p.Lys1175Arg)
c.*3166A>G (n.*3166A>G)
n.3549A>G
c.151+6765A>G (n.151+6765A>G)
c.669A>G (n.669A>G)
c.980A>G (p.Lys327Arg)
c.3446A>G (p.Lys1149Arg)
c.656-765A>G (n.656-765A>G)
c.3377A>G (p.Lys1126Arg)
c.3440A>G (p.Lys1147Arg)
c.3428A>G (p.Lys1143Arg)
2g.144389647T>GCA348699278ZEB2c.*3298A>C (n.*3298A>C)
c.2672A>C (p.Lys891Thr)
c.3449A>C (p.Lys1150Thr)
c.3337A>C (p.Ser1113Arg)
n.3418A>C
c.3113A>C (p.Lys1038Thr)
c.3524A>C (p.Lys1175Thr)
c.*3166A>C (n.*3166A>C)
n.3549A>C
c.151+6765A>C (n.151+6765A>C)
c.669A>C (n.669A>C)
c.980A>C (p.Lys327Thr)
c.3446A>C (p.Lys1149Thr)
c.656-765A>C (n.656-765A>C)
c.3377A>C (p.Lys1126Thr)
c.3440A>C (p.Lys1147Thr)
c.3428A>C (p.Lys1143Thr)
2g.144389648T>ACA348699279ZEB2c.*3297A>T (n.*3297A>T)
c.2671A>T (p.Lys891Ter)
c.3448A>T (p.Lys1150Ter)
c.3336A>T (p.Gly1112=)
n.3417A>T
c.3112A>T (p.Lys1038Ter)
c.3523A>T (p.Lys1175Ter)
c.*3165A>T (n.*3165A>T)
n.3548A>T
c.151+6764A>T (n.151+6764A>T)
c.668A>T (n.668A>T)
c.979A>T (p.Lys327Ter)
c.3445A>T (p.Lys1149Ter)
c.656-766A>T (n.656-766A>T)
c.3376A>T (p.Lys1126Ter)
c.3439A>T (p.Lys1147Ter)
c.3427A>T (p.Lys1143Ter)
2g.144389648T>CCA348699280ZEB2c.*3297A>G (n.*3297A>G)
c.2671A>G (p.Lys891Glu)
c.3448A>G (p.Lys1150Glu)
c.3336A>G (p.Gly1112=)
n.3417A>G
c.3112A>G (p.Lys1038Glu)
c.3523A>G (p.Lys1175Glu)
c.*3165A>G (n.*3165A>G)
n.3548A>G
c.151+6764A>G (n.151+6764A>G)
c.668A>G (n.668A>G)
c.979A>G (p.Lys327Glu)
c.3445A>G (p.Lys1149Glu)
c.656-766A>G (n.656-766A>G)
c.3376A>G (p.Lys1126Glu)
c.3439A>G (p.Lys1147Glu)
c.3427A>G (p.Lys1143Glu)
2g.144389648T>GCA348699281ZEB2c.*3297A>C (n.*3297A>C)
c.2671A>C (p.Lys891Gln)
c.3448A>C (p.Lys1150Gln)
c.3336A>C (p.Gly1112=)
n.3417A>C
c.3112A>C (p.Lys1038Gln)
c.3523A>C (p.Lys1175Gln)
c.*3165A>C (n.*3165A>C)
n.3548A>C
c.151+6764A>C (n.151+6764A>C)
c.668A>C (n.668A>C)
c.979A>C (p.Lys327Gln)
c.3445A>C (p.Lys1149Gln)
c.656-766A>C (n.656-766A>C)
c.3376A>C (p.Lys1126Gln)
c.3439A>C (p.Lys1147Gln)
c.3427A>C (p.Lys1143Gln)
2g.144389649C>ACA429441132ZEB2c.*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=)
2g.144389649C>GCA429441133ZEB2c.*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=)
2g.144389649C>TCA429441134ZEB2c.*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
2g.144389650C>ACA348699282ZEB2c.*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)
2g.144389650C>GCA348699283ZEB2c.*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)
2g.144389650C>TCA348699284ZEB2c.*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)
2g.144389651C>ACA348699286ZEB2c.*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)
2g.144389651C=CA1294881283ZEB2c.*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=)
2g.144389651C>GCA348699285ZEB2c.*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)
2g.144389651C>TCA1898115ZEB2c.*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
2g.144389652G>ACA272829ZEB2c.*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
2g.144389652G>CCA348699288ZEB2c.*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)
2g.144389652G=CA1294881284ZEB2c.*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=)
2g.144389652G>TCA348699287ZEB2c.*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)
2g.144389653T>ACA348699289ZEB2c.*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)
2g.144389653T>CCA348699291ZEB2c.*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
2g.144389653T>GCA348699290ZEB2c.*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)
2g.144389654A=CA1294881285ZEB2c.*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=)
2g.144389654A>CCA348699292ZEB2c.*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)
2g.144389654A>GCA1898116ZEB2c.*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
2g.144389654A>TCA348699293ZEB2c.*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)
2g.144389655G>ACA429441136ZEB2c.*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=)
2g.144389655G>CCA429441137ZEB2c.*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
2g.144389655G=CA1294881286ZEB2c.*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=)
2g.144389655G>TCA429441135ZEB2c.*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=)
2g.144389656C>ACA1898117ZEB2c.*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
2g.144389656C=CA1294881287ZEB2c.*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=)
2g.144389656C>GCA348699295ZEB2c.*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)
2g.144389656C>TCA348699294ZEB2c.*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)
2g.144389657C>ACA348699296ZEB2c.*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)
2g.144389657C>GCA348699298ZEB2c.*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)
2g.144389657C>TCA348699297ZEB2c.*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)
2g.144389658_144389660dupCA2739271217ZEB2c.*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
2g.144389658A>CCA348699299ZEB2c.*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)
2g.144389658A>GCA429441138ZEB2c.*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
2g.144389658A>TCA348699300ZEB2c.*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)
2g.144389659T>ACA348699301ZEB2c.*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

Number of alleles fetched