Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.144389643C>ACA429441127ZEB2c.*3302G>T (n.*3302G>T)
c.2676G>T (p.Leu892=)
c.3453G>T (p.Leu1151=)
c.3341G>T (p.Trp1114Leu)
n.3422G>T
c.3117G>T (p.Leu1039=)
c.3528G>T (p.Leu1176=)
c.*3170G>T (n.*3170G>T)
n.3553G>T
c.151+6769G>T (n.151+6769G>T)
c.673G>T (n.673G>T)
c.984G>T (p.Leu328=)
c.3450G>T (p.Leu1150=)
c.656-761G>T (n.656-761G>T)
c.3381G>T (p.Leu1127=)
c.3444G>T (p.Leu1148=)
c.3432G>T (p.Leu1144=)
2g.144389643C>GCA429441128ZEB2c.*3302G>C (n.*3302G>C)
c.2676G>C (p.Leu892=)
c.3453G>C (p.Leu1151=)
c.3341G>C (p.Trp1114Ser)
n.3422G>C
c.3117G>C (p.Leu1039=)
c.3528G>C (p.Leu1176=)
c.*3170G>C (n.*3170G>C)
n.3553G>C
c.151+6769G>C (n.151+6769G>C)
c.673G>C (n.673G>C)
c.984G>C (p.Leu328=)
c.3450G>C (p.Leu1150=)
c.656-761G>C (n.656-761G>C)
c.3381G>C (p.Leu1127=)
c.3444G>C (p.Leu1148=)
c.3432G>C (p.Leu1144=)
2g.144389643C>TCA429441129ZEB2c.*3302G>A (n.*3302G>A)
c.2676G>A (p.Leu892=)
c.3453G>A (p.Leu1151=)
c.3341G>A (p.Trp1114Ter)
n.3422G>A
c.3117G>A (p.Leu1039=)
c.3528G>A (p.Leu1176=)
c.*3170G>A (n.*3170G>A)
n.3553G>A
c.151+6769G>A (n.151+6769G>A)
c.673G>A (n.673G>A)
c.984G>A (p.Leu328=)
c.3450G>A (p.Leu1150=)
c.656-761G>A (n.656-761G>A)
c.3381G>A (p.Leu1127=)
c.3444G>A (p.Leu1148=)
c.3432G>A (p.Leu1144=)
 ClinVar
2g.144389644_144389645insACCCCCCAAACACACCCAACACACA2752520878ZEB2c.*3302_*3303insTGTTGGGTGTGTTTGGGGGGTTG (n.*3302_*3303insTGTTGGGTGTGTTTGGGGGGTTG)
c.2676_2677insTGTTGGGTGTGTTTGGGGGGTTG (p.Gly893CysfsTer?)
c.3453_3454insTGTTGGGTGTGTTTGGGGGGTTG (p.Gly1152CysfsTer?)
c.3341_3342insTGTTGGGTGTGTTTGGGGGGTTG (p.Trp1114CysfsTer25)
n.3422_3423insTGTTGGGTGTGTTTGGGGGGTTG
c.3117_3118insTGTTGGGTGTGTTTGGGGGGTTG (p.Gly1040CysfsTer?)
c.3528_3529insTGTTGGGTGTGTTTGGGGGGTTG (p.Gly1177CysfsTer?)
c.*3170_*3171insTGTTGGGTGTGTTTGGGGGGTTG (n.*3170_*3171insTGTTGGGTGTGTTTGGGGGGTTG)
n.3553_3554insTGTTGGGTGTGTTTGGGGGGTTG
c.151+6769_151+6770insTGTTGGGTGTGTTTGGGGGGTTG (n.151+6769_151+6770insTGTTGGGTGTGTTTGGGGGGTTG)
c.673_674insTGTTGGGTGTGTTTGGGGGGTTG (n.673_674insTGTTGGGTGTGTTTGGGGGGTTG)
c.984_985insTGTTGGGTGTGTTTGGGGGGTTG (p.Gly329CysfsTer?)
c.3450_3451insTGTTGGGTGTGTTTGGGGGGTTG (p.Gly1151CysfsTer?)
c.656-761_656-760insTGTTGGGTGTGTTTGGGGGGTTG (n.656-761_656-760insTGTTGGGTGTGTTTGGGGGGTTG)
c.3381_3382insTGTTGGGTGTGTTTGGGGGGTTG (p.Gly1128CysfsTer?)
c.3444_3445insTGTTGGGTGTGTTTGGGGGGTTG (p.Gly1149CysfsTer?)
c.3432_3433insTGTTGGGTGTGTTTGGGGGGTTG (p.Gly1145CysfsTer?)
2g.144389644A=CA1294881281ZEB2c.*3301T= (n.*3301T=)
c.2675T= (p.Leu892=)
c.3452T= (p.Leu1151=)
c.3340T= (p.Trp1114=)
n.3421T=
c.3116T= (p.Leu1039=)
c.3527T= (p.Leu1176=)
c.*3169T= (n.*3169T=)
n.3552T=
c.151+6768T= (n.151+6768T=)
c.672T= (n.672T=)
c.983T= (p.Leu328=)
c.3449T= (p.Leu1150=)
c.656-762T= (n.656-762T=)
c.3380T= (p.Leu1127=)
c.3443T= (p.Leu1148=)
c.3431T= (p.Leu1144=)
2g.144389644A>CCA348699272ZEB2c.*3301T>G (n.*3301T>G)
c.2675T>G (p.Leu892Arg)
c.3452T>G (p.Leu1151Arg)
c.3340T>G (p.Trp1114Gly)
n.3421T>G
c.3116T>G (p.Leu1039Arg)
c.3527T>G (p.Leu1176Arg)
c.*3169T>G (n.*3169T>G)
n.3552T>G
c.151+6768T>G (n.151+6768T>G)
c.672T>G (n.672T>G)
c.983T>G (p.Leu328Arg)
c.3449T>G (p.Leu1150Arg)
c.656-762T>G (n.656-762T>G)
c.3380T>G (p.Leu1127Arg)
c.3443T>G (p.Leu1148Arg)
c.3431T>G (p.Leu1144Arg)
 dbSNP
2g.144389644A>GCA348699271ZEB2c.*3301T>C (n.*3301T>C)
c.2675T>C (p.Leu892Pro)
c.3452T>C (p.Leu1151Pro)
c.3340T>C (p.Trp1114Arg)
n.3421T>C
c.3116T>C (p.Leu1039Pro)
c.3527T>C (p.Leu1176Pro)
c.*3169T>C (n.*3169T>C)
n.3552T>C
c.151+6768T>C (n.151+6768T>C)
c.672T>C (n.672T>C)
c.983T>C (p.Leu328Pro)
c.3449T>C (p.Leu1150Pro)
c.656-762T>C (n.656-762T>C)
c.3380T>C (p.Leu1127Pro)
c.3443T>C (p.Leu1148Pro)
c.3431T>C (p.Leu1144Pro)
 ClinVar dbSNP gnomAD v4
2g.144389644A>TCA348699270ZEB2c.*3301T>A (n.*3301T>A)
c.2675T>A (p.Leu892Gln)
c.3452T>A (p.Leu1151Gln)
c.3340T>A (p.Trp1114Arg)
n.3421T>A
c.3116T>A (p.Leu1039Gln)
c.3527T>A (p.Leu1176Gln)
c.*3169T>A (n.*3169T>A)
n.3552T>A
c.151+6768T>A (n.151+6768T>A)
c.672T>A (n.672T>A)
c.983T>A (p.Leu328Gln)
c.3449T>A (p.Leu1150Gln)
c.656-762T>A (n.656-762T>A)
c.3380T>A (p.Leu1127Gln)
c.3443T>A (p.Leu1148Gln)
c.3431T>A (p.Leu1144Gln)
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
2g.144389659T>CCA348699303ZEB2c.*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)
2g.144389659T>GCA348699302ZEB2c.*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)
2g.144389660C>ACA348699304ZEB2c.*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
2g.144389660C=CA1294881288ZEB2c.*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=)
2g.144389660C>GCA348699306ZEB2c.*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)
2g.144389660C>TCA348699305ZEB2c.*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)
2g.144389661C>ACA348699307ZEB2c.*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)
2g.144389661C>GCA348699308ZEB2c.*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
2g.144389661C>TCA429441139ZEB2c.*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
2g.144389662T>ACA348699309ZEB2c.*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)
2g.144389662T>CCA348699310ZEB2c.*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
2g.144389662T>GCA348699311ZEB2c.*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)
2g.144389663C>ACA348699312ZEB2c.*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)
2g.144389663C>GCA348699313ZEB2c.*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
2g.144389663C>TCA348699314ZEB2c.*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
2g.144389664G>ACA1898118ZEB2c.*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
2g.144389664G>CCA429441140ZEB2c.*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=)
2g.144389664G=CA1294881289ZEB2c.*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=)
2g.144389664G>TCA429441141ZEB2c.*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=)
2g.144389665C>ACA348699317ZEB2c.*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
2g.144389665C=CA1294881290ZEB2c.*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=)
2g.144389665C>GCA348699316ZEB2c.*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)
2g.144389665C>TCA348699315ZEB2c.*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)
2g.144389666C>ACA348699318ZEB2c.*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
2g.144389666C=CA1294881291ZEB2c.*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=)
2g.144389666C>GCA348699319ZEB2c.*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)
2g.144389666C>TCA348699320ZEB2c.*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
2g.144389667T>ACA348699321ZEB2c.*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)
2g.144389667T>CCA429441142ZEB2c.*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=)
2g.144389667T>GCA348699322ZEB2c.*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)
2g.144389668T>ACA348699323ZEB2c.*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
2g.144389668T>CCA348699324ZEB2c.*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
2g.144389668T>GCA348699325ZEB2c.*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)
2g.144389668T=CA1294881292ZEB2c.*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=)
2g.144389669C>ACA348699326ZEB2c.*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
2g.144389669C>GCA348699327ZEB2c.*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)
2g.144389669C>TCA348699328ZEB2c.*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)
2g.144389670T>ACA348699330ZEB2c.*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)
2g.144389670T>CCA1898119ZEB2c.*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
2g.144389670T>GCA348699329ZEB2c.*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)
2g.144389670T=CA1294881293ZEB2c.*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=)
2g.144389671T>ACA348699331ZEB2c.*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)
2g.144389671T>CCA348699332ZEB2c.*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)
2g.144389671T>GCA348699333ZEB2c.*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)
2g.144389672T>ACA348699334ZEB2c.*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)
2g.144389672T>CCA348699335ZEB2c.*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)
2g.144389672T>GCA348699336ZEB2c.*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)
2g.144389673C>ACA348699337ZEB2c.*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)
2g.144389673C=CA1294881294ZEB2c.*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=)
2g.144389673C>GCA348699338ZEB2c.*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
2g.144389673C>TCA429441143ZEB2c.*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
2g.144389674T>ACA348699339ZEB2c.*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)
2g.144389674T>CCA348699340ZEB2c.*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)
2g.144389674T>GCA348699341ZEB2c.*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)
2g.144389675C>ACA348699344ZEB2c.*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)
2g.144389675C>GCA348699343ZEB2c.*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)
2g.144389675C>TCA348699342ZEB2c.*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
2g.144389676G>ACA429441144ZEB2c.*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
2g.144389676G>CCA348699345ZEB2c.*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
2g.144389676G=CA1294881295ZEB2c.*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=)
2g.144389676G>TCA348699346ZEB2c.*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)
2g.144389677T>ACA348699347ZEB2c.*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)
2g.144389677T>CCA348699348ZEB2c.*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
2g.144389677T>GCA348699349ZEB2c.*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
2g.144389677T=CA1294881296ZEB2c.*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=)
2g.144389678G>ACA348699350ZEB2c.*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)
2g.144389678G>CCA348699351ZEB2c.*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)
2g.144389678G>TCA348699352ZEB2c.*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
2g.144389679C>ACA348699353ZEB2c.*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)
2g.144389679C=CA1294881297ZEB2c.*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=)
2g.144389679C>GCA348699354ZEB2c.*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)
2g.144389679C>TCA429441145ZEB2c.*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
2g.144389680T>ACA348699355ZEB2c.*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)
2g.144389680T>CCA348699356ZEB2c.*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)
2g.144389680T>GCA348699357ZEB2c.*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)
2g.144389681C>ACA348699359ZEB2c.*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)
2g.144389681C>GCA348699360ZEB2c.*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)
2g.144389681C>TCA348699358ZEB2c.*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)
2g.144389682C>ACA348699362ZEB2c.*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)
2g.144389682C=CA1294881298ZEB2c.*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=)
2g.144389682C>GCA348699361ZEB2c.*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)
2g.144389682C>TCA1898120ZEB2c.*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
2g.144389684_144389686delCA645536264ZEB2c.*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
2g.144389683T>ACA348699363ZEB2c.*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)
2g.144389683T>CCA348699364ZEB2c.*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
2g.144389683T>GCA348699365ZEB2c.*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)
2g.144389684T>ACA348699366ZEB2c.*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)
2g.144389684T>CCA348699367ZEB2c.*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)
2g.144389684T>GCA348699368ZEB2c.*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)
2g.144389685C>ACA348699369ZEB2c.*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)
2g.144389685C>GCA348699370ZEB2c.*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)
2g.144389685C>TCA429441147ZEB2c.*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=)
2g.144389686T>ACA348699371ZEB2c.*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)
2g.144389686T>CCA348699372ZEB2c.*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
2g.144389686T>GCA348699373ZEB2c.*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)
2g.144389687C>ACA348699374ZEB2c.*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)
2g.144389687C=CA1294881299ZEB2c.*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=)
2g.144389687C>GCA348699375ZEB2c.*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
2g.144389687C>TCA297623ZEB2c.*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
2g.144389688G>ACA429441148ZEB2c.*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
2g.144389688G>CCA16610248ZEB2c.*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
2g.144389688G=CA1294881300ZEB2c.*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=)
2g.144389688G>TCA348699376ZEB2c.*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)
2g.144389689C>ACA348699377ZEB2c.*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)
2g.144389689C>GCA348699378ZEB2c.*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)
2g.144389689C>TCA348699379ZEB2c.*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)
2g.144389690T>ACA348699380ZEB2c.*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)
2g.144389690T>CCA348699381ZEB2c.*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)
2g.144389690T>GCA348699382ZEB2c.*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)
2g.144389691C>ACA348699383ZEB2c.*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
2g.144389691C=CA1294881301ZEB2c.*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=)
2g.144389691C>GCA348699384ZEB2c.*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
2g.144389691C>TCA429441149ZEB2c.*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
2g.144389692T>ACA348699386ZEB2c.*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)
2g.144389692T>CCA348699387ZEB2c.*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)
2g.144389692T>GCA348699385ZEB2c.*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)
2g.144389693C>ACA348699388ZEB2c.*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)
2g.144389693C>GCA348699389ZEB2c.*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)
2g.144389693C>TCA348699390ZEB2c.*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
2g.144389694G>ACA429441151ZEB2c.*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
2g.144389694G>CCA429441152ZEB2c.*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=)
2g.144389694G=CA1294881302ZEB2c.*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=)
2g.144389694G>TCA1898121ZEB2c.*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
2g.144389695C>ACA348699391ZEB2c.*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)
2g.144389695C>GCA348699392ZEB2c.*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)
2g.144389695C>TCA348699393ZEB2c.*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
2g.144389695_144389705delinsCCATCCCTCGGCA1294881303ZEB2c.*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=)
2g.144389696C>ACA348699394ZEB2c.*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)
2g.144389696C=CA1294881304ZEB2c.*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=)
2g.144389696C>GCA348699395ZEB2c.*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)
2g.144389696C>TCA348699396ZEB2c.*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
2g.144389699_144389708delCA274525ZEB2c.*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
2g.144389697A>CCA348699397ZEB2c.*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)
2g.144389697A>GCA429441153ZEB2c.*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=)
2g.144389697A>TCA348699398ZEB2c.*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)
2g.144389698T>ACA348699401ZEB2c.*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)
2g.144389698T>CCA348699400ZEB2c.*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)
2g.144389698T>GCA348699399ZEB2c.*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)
2g.144389699C>ACA348699402ZEB2c.*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
2g.144389699C=CA1294881305ZEB2c.*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=)
2g.144389699C>GCA348699403ZEB2c.*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)
2g.144389699C>TCA348699404ZEB2c.*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
2g.144389700C>ACA348699405ZEB2c.*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)
2g.144389700C>GCA348699406ZEB2c.*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)
2g.144389700C>TCA429441154ZEB2c.*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
2g.144389701C>ACA348699407ZEB2c.*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)
2g.144389701C>GCA348699408ZEB2c.*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)
2g.144389701C>TCA348699409ZEB2c.*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)
2g.144389702T>ACA348699410ZEB2c.*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)
2g.144389702T>CCA348699411ZEB2c.*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)
2g.144389702T>GCA429441155ZEB2c.*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=)
2g.144389703C>ACA429441156ZEB2c.*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
2g.144389703C=CA1294881306ZEB2c.*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=)
2g.144389703C>GCA429441158ZEB2c.*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
2g.144389703C>TCA429441157ZEB2c.*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
2g.144389704G>ACA348699412ZEB2c.*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)
2g.144389704G>CCA348699413ZEB2c.*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)
2g.144389704G>TCA348699414ZEB2c.*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
2g.144389705G>ACA348699417ZEB2c.*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)
2g.144389705G>CCA348699416ZEB2c.*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)
2g.144389705G>TCA348699415ZEB2c.*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)
2g.144389706C>ACA348699418ZEB2c.*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)
2g.144389706C=CA1294881307ZEB2c.*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=)
2g.144389706C>GCA348699420ZEB2c.*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)
2g.144389706C>TCA348699419ZEB2c.*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
2g.144389707A>CCA348699421ZEB2c.*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)
2g.144389707A>GCA348699423ZEB2c.*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)
2g.144389707A>TCA348699422ZEB2c.*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)
2g.144389708T>ACA348699425ZEB2c.*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
2g.144389708T>CCA348699427ZEB2c.*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
2g.144389708T>GCA348699429ZEB2c.*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)
2g.144389708T=CA1294881308ZEB2c.*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=)
2g.144389709A>CCA348699430ZEB2c.*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
2g.144389709A>GCA429441160ZEB2c.*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
2g.144389709A>TCA348699431ZEB2c.*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)
2g.144389710delCA429441161ZEB2c.*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?)
2g.144389710C>ACA348699432ZEB2c.*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)
2g.144389710C>GCA348699433ZEB2c.*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)
2g.144389710C>TCA348699434ZEB2c.*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)
2g.144389711T>ACA348699435ZEB2c.*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)
2g.144389711T>CCA57549403ZEB2c.*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
2g.144389711T>GCA348699436ZEB2c.*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)
2g.144389711T=CA1294881309ZEB2c.*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=)
2g.144389712C>ACA348699438ZEB2c.*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)
2g.144389712C>GCA348699437ZEB2c.*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
2g.144389712C>TCA429441162ZEB2c.*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
2g.144389713T>ACA348699439ZEB2c.*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)
2g.144389713T>CCA348699440ZEB2c.*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)
2g.144389713T>GCA348699441ZEB2c.*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)
2g.144389714C>ACA348699442ZEB2c.*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)
2g.144389714C>GCA348699443ZEB2c.*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)
2g.144389714C>TCA348699444ZEB2c.*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)
2g.144389716delCA2586969978ZEB2c.*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?)
2g.144389715C>ACA348699445ZEB2c.*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)
2g.144389715C>GCA348699446ZEB2c.*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)
2g.144389715C>TCA429441163ZEB2c.*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
2g.144389716C>ACA348699447ZEB2c.*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)
2g.144389716C>GCA348699448ZEB2c.*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)
2g.144389716C>TCA348699449ZEB2c.*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)
2g.144389717T>ACA348699451ZEB2c.*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)
2g.144389717T>CCA348699450ZEB2c.*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)
2g.144389717T>GCA429441164ZEB2c.*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=)
2g.144389718C>ACA348699452ZEB2c.*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)
2g.144389718C=CA1294881310ZEB2c.*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=)
2g.144389718C>GCA348699453ZEB2c.*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)
2g.144389718C>TCA429441165ZEB2c.*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
2g.144389719T>ACA348699454ZEB2c.*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)
2g.144389719T>CCA348699455ZEB2c.*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)
2g.144389719T>GCA348699456ZEB2c.*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)
2g.144389720C>ACA348699457ZEB2c.*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)
2g.144389720C>GCA348699458ZEB2c.*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)
2g.144389720C>TCA348699459ZEB2c.*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)
2g.144389721C>ACA348699460ZEB2c.*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)
2g.144389721C=CA1294881311ZEB2c.*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=)
2g.144389721C>GCA348699461ZEB2c.*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)
2g.144389721C>TCA429441166ZEB2c.*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
2g.144389722T>ACA348699462ZEB2c.*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)
2g.144389722T>CCA348699463ZEB2c.*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)
2g.144389722T>GCA348699464ZEB2c.*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)
2g.144389723C>ACA348699465ZEB2c.*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)
2g.144389723C>GCA348699467ZEB2c.*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)
2g.144389723C>TCA348699466ZEB2c.*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)
2g.144389724C>ACA429441167ZEB2c.*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=)
2g.144389724C>GCA429441168ZEB2c.*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=)
2g.144389724C>TCA429441169ZEB2c.*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
2g.144389725G>ACA348699468ZEB2c.*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)
2g.144389725G>CCA348699469ZEB2c.*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)
2g.144389725G>TCA348699470ZEB2c.*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)
2g.144389726A>CCA348699471ZEB2c.*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
2g.144389726A>GCA348699472ZEB2c.*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)
2g.144389726A>TCA348699473ZEB2c.*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)
2g.144389727G>ACA429441170ZEB2c.*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=)
2g.144389727G>CCA348699474ZEB2c.*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)
2g.144389727G>TCA348699475ZEB2c.*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)
2g.144389728T>ACA348699476ZEB2c.*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)
2g.144389728T>CCA348699477ZEB2c.*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)
2g.144389728T>GCA348699478ZEB2c.*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)
2g.144389729C>ACA348699480ZEB2c.*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
2g.144389729C>GCA348699481ZEB2c.*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)
2g.144389729C>TCA348699479ZEB2c.*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)
2g.144389730A>CCA429441171ZEB2c.*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=)
2g.144389730A>GCA429441172ZEB2c.*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=)
2g.144389730A>TCA429441173ZEB2c.*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=)
2g.144389731_144389749delCA429441174ZEB2c.*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?)
2g.144389731G>ACA348699482ZEB2c.*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)
2g.144389731G>CCA348699483ZEB2c.*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
2g.144389731G>TCA348699484ZEB2c.*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)
2g.144389731_144389737delinsGAGTACCCA1294881312ZEB2c.*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=)
2g.144389732A>CCA348699485ZEB2c.*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)
2g.144389732A>GCA348699486ZEB2c.*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
2g.144389732A>TCA348699487ZEB2c.*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)
2g.144389732_144389737delinsCATTACA267213ZEB2c.*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
2g.144389733G>ACA1898122ZEB2c.*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
2g.144389733G>CCA348699488ZEB2c.*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)
2g.144389733G=CA1294881313ZEB2c.*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=)
2g.144389733G>TCA348699490ZEB2c.*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)
2g.144389733_144389734insCATCA2577152071ZEB2c.*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)
2g.144389734T>ACA348699492ZEB2c.*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)
2g.144389734T>CCA348699494ZEB2c.*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)
2g.144389734T>GCA348699495ZEB2c.*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)
2g.144389735A=CA1294881314ZEB2c.*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=)
2g.144389735A>CCA348699500ZEB2c.*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)
2g.144389735A>GCA348699499ZEB2c.*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
2g.144389735A>TCA1898123ZEB2c.*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
2g.144389736C>ACA429441175ZEB2c.*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
2g.144389736C>GCA429441176ZEB2c.*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=)
2g.144389736C>TCA429441177ZEB2c.*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=)
2g.144389737C>ACA348699503ZEB2c.*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
2g.144389737C>GCA348699504ZEB2c.*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)
2g.144389737C>TCA348699505ZEB2c.*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)
2g.144389738C>ACA348699506ZEB2c.*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)
2g.144389738C>GCA348699508ZEB2c.*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)
2g.144389738C>TCA348699509ZEB2c.*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)
2g.144389739C>ACA348699510ZEB2c.*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)
2g.144389739C=CA1294881315ZEB2c.*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=)
2g.144389739C>GCA348699511ZEB2c.*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
2g.144389739C>TCA429441178ZEB2c.*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=)
2g.144389740delCA429441179ZEB2c.*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?)
2g.144389740T>ACA348699512ZEB2c.*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)
2g.144389740T>CCA253288ZEB2c.*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
2g.144389740T>GCA348699513ZEB2c.*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)
2g.144389740T=CA1294881316ZEB2c.*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=)
2g.144389741G>ACA348699516ZEB2c.*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
2g.144389741G>CCA348699518ZEB2c.*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)
2g.144389741G>TCA348699520ZEB2c.*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)
2g.144389742A>CCA429441180ZEB2c.*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=)
2g.144389742A>GCA429441181ZEB2c.*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=)
2g.144389742A>TCA429441182ZEB2c.*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
2g.144389743G>ACA348699523ZEB2c.*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
2g.144389743G>CCA348699525ZEB2c.*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)
2g.144389743G=CA1294881317ZEB2c.*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=)
2g.144389743G>TCA1898124ZEB2c.*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
2g.144389746delCA2586969979ZEB2c.*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?)

Number of alleles fetched