Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.144389406A=CA1294881188ZEB2c.*3539T= (n.*3539T=)
c.*45T= (n.*45T=)
c.3578T= (p.Ile1193=)
n.3659T=
c.*3407T= (n.*3407T=)
n.3790T=
c.151+7006T= (n.151+7006T=)
c.910T= (n.910T=)
c.656-524T= (n.656-524T=)
2g.144389406A>CCA57549125ZEB2c.*3539T>G (n.*3539T>G)
c.*45T>G (n.*45T>G)
c.3578T>G (p.Ile1193Ser)
n.3659T>G
c.*3407T>G (n.*3407T>G)
n.3790T>G
c.151+7006T>G (n.151+7006T>G)
c.910T>G (n.910T>G)
c.656-524T>G (n.656-524T>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.144389406A>TCA1898086ZEB2c.*3539T>A (n.*3539T>A)
c.*45T>A (n.*45T>A)
c.3578T>A (p.Ile1193Asn)
n.3659T>A
c.*3407T>A (n.*3407T>A)
n.3790T>A
c.151+7006T>A (n.151+7006T>A)
c.910T>A (n.910T>A)
c.656-524T>A (n.656-524T>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.144389407T>CCA1898087ZEB2c.*3538A>G (n.*3538A>G)
c.*44A>G (n.*44A>G)
c.3577A>G (p.Ile1193Val)
n.3658A>G
c.*3406A>G (n.*3406A>G)
n.3789A>G
c.151+7005A>G (n.151+7005A>G)
c.909A>G (n.909A>G)
c.656-525A>G (n.656-525A>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.144389407T=CA1294881189ZEB2c.*3538A= (n.*3538A=)
c.*44A= (n.*44A=)
c.3577A= (p.Ile1193=)
n.3658A=
c.*3406A= (n.*3406A=)
n.3789A=
c.151+7005A= (n.151+7005A=)
c.909A= (n.909A=)
c.656-525A= (n.656-525A=)
2g.144389408A=CA1294881190ZEB2c.*3537T= (n.*3537T=)
c.*43T= (n.*43T=)
c.3576T= (p.Ser1192=)
n.3657T=
c.*3405T= (n.*3405T=)
n.3788T=
c.151+7004T= (n.151+7004T=)
c.908T= (n.908T=)
c.656-526T= (n.656-526T=)
2g.144389408A>CCA758235785ZEB2c.*3537T>G (n.*3537T>G)
c.*43T>G (n.*43T>G)
c.3576T>G (p.Ser1192Arg)
n.3657T>G
c.*3405T>G (n.*3405T>G)
n.3788T>G
c.151+7004T>G (n.151+7004T>G)
c.908T>G (n.908T>G)
c.656-526T>G (n.656-526T>G)
 dbSNP gnomAD v3 gnomAD v4
2g.144389408A>TCA2577152040ZEB2c.*3537T>A (n.*3537T>A)
c.*43T>A (n.*43T>A)
c.3576T>A (p.Ser1192Arg)
n.3657T>A
c.*3405T>A (n.*3405T>A)
n.3788T>A
c.151+7004T>A (n.151+7004T>A)
c.908T>A (n.908T>A)
c.656-526T>A (n.656-526T>A)
2g.144389409C>GCA2661359671ZEB2c.*3536G>C (n.*3536G>C)
c.*42G>C (n.*42G>C)
c.3575G>C (p.Ser1192Thr)
n.3656G>C
c.*3404G>C (n.*3404G>C)
n.3787G>C
c.151+7003G>C (n.151+7003G>C)
c.907G>C (n.907G>C)
c.656-527G>C (n.656-527G>C)
 gnomAD v4
2g.144389409_144389415delCA1037411667ZEB2c.*3530_*3536del (n.*3530_*3536del)
c.*36_*42del (n.*36_*42del)
c.3569_3575del (p.Ser1190LeufsTer6)
n.3650_3656del
c.*3398_*3404del (n.*3398_*3404del)
n.3781_3787del
c.151+6997_151+7003del (n.151+6997_151+7003del)
c.901_907del (n.901_907del)
c.656-533_656-527del (n.656-533_656-527del)
 gnomAD v3 gnomAD v4
2g.144389411A>TCA2577152041ZEB2c.*3534T>A (n.*3534T>A)
c.*40T>A (n.*40T>A)
c.3573T>A (p.Ser1191Arg)
n.3654T>A
c.*3402T>A (n.*3402T>A)
n.3785T>A
c.151+7001T>A (n.151+7001T>A)
c.905T>A (n.905T>A)
c.656-529T>A (n.656-529T>A)
2g.144389412C>ACA2661359672ZEB2c.*3533G>T (n.*3533G>T)
c.*39G>T (n.*39G>T)
c.3572G>T (p.Ser1191Ile)
n.3653G>T
c.*3401G>T (n.*3401G>T)
n.3784G>T
c.151+7000G>T (n.151+7000G>T)
c.904G>T (n.904G>T)
c.656-530G>T (n.656-530G>T)
 gnomAD v4
2g.144389412C=CA1294881191ZEB2c.*3533G= (n.*3533G=)
c.*39G= (n.*39G=)
c.3572G= (p.Ser1191=)
n.3653G=
c.*3401G= (n.*3401G=)
n.3784G=
c.151+7000G= (n.151+7000G=)
c.904G= (n.904G=)
c.656-530G= (n.656-530G=)
2g.144389412C>GCA1898088ZEB2c.*3533G>C (n.*3533G>C)
c.*39G>C (n.*39G>C)
c.3572G>C (p.Ser1191Thr)
n.3653G>C
c.*3401G>C (n.*3401G>C)
n.3784G>C
c.151+7000G>C (n.151+7000G>C)
c.904G>C (n.904G>C)
c.656-530G>C (n.656-530G>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.144389412C>TCA2661359673ZEB2c.*3533G>A (n.*3533G>A)
c.*39G>A (n.*39G>A)
c.3572G>A (p.Ser1191Asn)
n.3653G>A
c.*3401G>A (n.*3401G>A)
n.3784G>A
c.151+7000G>A (n.151+7000G>A)
c.904G>A (n.904G>A)
c.656-530G>A (n.656-530G>A)
 gnomAD v4
2g.144389412_144389415delCA1037411670ZEB2c.*3530_*3533del (n.*3530_*3533del)
c.*36_*39del (n.*36_*39del)
c.3569_3572del (p.Ser1190LeufsTer7)
n.3650_3653del
c.*3398_*3401del (n.*3398_*3401del)
n.3781_3784del
c.151+6997_151+7000del (n.151+6997_151+7000del)
c.901_904del (n.901_904del)
c.656-533_656-530del (n.656-533_656-530del)
 gnomAD v3 gnomAD v4
2g.144389413T>CCA1898089ZEB2c.*3532A>G (n.*3532A>G)
c.*38A>G (n.*38A>G)
c.3571A>G (p.Ser1191Gly)
n.3652A>G
c.*3400A>G (n.*3400A>G)
n.3783A>G
c.151+6999A>G (n.151+6999A>G)
c.903A>G (n.903A>G)
c.656-531A>G (n.656-531A>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.144389413T=CA1294881192ZEB2c.*3532A= (n.*3532A=)
c.*38A= (n.*38A=)
c.3571A= (p.Ser1191=)
n.3652A=
c.*3400A= (n.*3400A=)
n.3783A=
c.151+6999A= (n.151+6999A=)
c.903A= (n.903A=)
c.656-531A= (n.656-531A=)
2g.144389414G>ACA1037411677ZEB2c.*3531C>T (n.*3531C>T)
c.*37C>T (n.*37C>T)
c.3570C>T (p.Ser1190=)
n.3651C>T
c.*3399C>T (n.*3399C>T)
n.3782C>T
c.151+6998C>T (n.151+6998C>T)
c.902C>T (n.902C>T)
c.656-532C>T (n.656-532C>T)
 gnomAD v3 gnomAD v4
2g.144389415G>ACA1037411679ZEB2c.*3530C>T (n.*3530C>T)
c.*36C>T (n.*36C>T)
c.3569C>T (p.Ser1190Phe)
n.3650C>T
c.*3398C>T (n.*3398C>T)
n.3781C>T
c.151+6997C>T (n.151+6997C>T)
c.901C>T (n.901C>T)
c.656-533C>T (n.656-533C>T)
 gnomAD v3 gnomAD v4
2g.144389415_144389416delinsGACA1294881193ZEB2c.*3529_*3530delinsTC (n.*3529_*3530delinsTC)
c.*35_*36delinsTC (n.*35_*36delinsTC)
c.3568_3569delinsTC (p.Ser1190=)
n.3649_3650delinsTC
c.*3397_*3398delinsTC (n.*3397_*3398delinsTC)
n.3780_3781delinsTC
c.151+6996_151+6997delinsTC (n.151+6996_151+6997delinsTC)
c.900_901delinsTC (n.900_901delinsTC)
c.656-534_656-533delinsTC (n.656-534_656-533delinsTC)
2g.144389416A=CA1294881194ZEB2c.*3529T= (n.*3529T=)
c.*35T= (n.*35T=)
c.3568T= (p.Ser1190=)
n.3649T=
c.*3397T= (n.*3397T=)
n.3780T=
c.151+6996T= (n.151+6996T=)
c.900T= (n.900T=)
c.656-534T= (n.656-534T=)
2g.144389416A>GCA57549167ZEB2c.*3529T>C (n.*3529T>C)
c.*35T>C (n.*35T>C)
c.3568T>C (p.Ser1190Pro)
n.3649T>C
c.*3397T>C (n.*3397T>C)
n.3780T>C
c.151+6996T>C (n.151+6996T>C)
c.900T>C (n.900T>C)
c.656-534T>C (n.656-534T>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.144389424dupCA1898090ZEB2c.*3529dup (n.*3529dup)
c.*35dup (n.*35dup)
c.3568dup (p.Ser1190PhefsTer3)
n.3649dup
c.*3397dup (n.*3397dup)
n.3780dup
c.151+6996dup (n.151+6996dup)
c.900dup (n.900dup)
c.656-534dup (n.656-534dup)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.144389423_144389424dupCA2661359674ZEB2c.*3528_*3529dup (n.*3528_*3529dup)
c.*34_*35dup (n.*34_*35dup)
c.3567_3568dup (p.Ser1190PhefsTer9)
n.3648_3649dup
c.*3396_*3397dup (n.*3396_*3397dup)
n.3779_3780dup
c.151+6995_151+6996dup (n.151+6995_151+6996dup)
c.899_900dup (n.899_900dup)
c.656-535_656-534dup (n.656-535_656-534dup)
 gnomAD v4
2g.144389421_144389424dupCA1037411691ZEB2c.*3526_*3529dup (n.*3526_*3529dup)
c.*32_*35dup (n.*32_*35dup)
c.3565_3568dup (p.Ser1190PhefsTer4)
n.3646_3649dup
c.*3394_*3397dup (n.*3394_*3397dup)
n.3777_3780dup
c.151+6993_151+6996dup (n.151+6993_151+6996dup)
c.897_900dup (n.897_900dup)
c.656-537_656-534dup (n.656-537_656-534dup)
 gnomAD v3 gnomAD v4
2g.144389420_144389424dupCA1294881195ZEB2c.*3525_*3529dup (n.*3525_*3529dup)
c.*31_*35dup (n.*31_*35dup)
c.3564_3568dup (p.Ser1190PhefsTer10)
n.3645_3649dup
c.*3393_*3397dup (n.*3393_*3397dup)
n.3776_3780dup
c.151+6992_151+6996dup (n.151+6992_151+6996dup)
c.896_900dup (n.896_900dup)
c.656-538_656-534dup (n.656-538_656-534dup)
 dbSNP
2g.144389418_144389424dupCA1037411695ZEB2c.*3523_*3529dup (n.*3523_*3529dup)
c.*29_*35dup (n.*29_*35dup)
c.3562_3568dup (p.Ser1190PhefsTer5)
n.3643_3649dup
c.*3391_*3397dup (n.*3391_*3397dup)
n.3774_3780dup
c.151+6990_151+6996dup (n.151+6990_151+6996dup)
c.894_900dup (n.894_900dup)
c.656-540_656-534dup (n.656-540_656-534dup)
 gnomAD v3 gnomAD v4
2g.144389424delCA1898091ZEB2c.*3529del (n.*3529del)
c.*35del (n.*35del)
c.3568del (p.Ser1190ProfsTer8)
n.3649del
c.*3397del (n.*3397del)
n.3780del
c.151+6996del (n.151+6996del)
c.900del (n.900del)
c.656-534del (n.656-534del)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.144389423_144389424delCA2661359675ZEB2c.*3528_*3529del (n.*3528_*3529del)
c.*34_*35del (n.*34_*35del)
c.3567_3568del (p.Ser1190GlnfsTer2)
n.3648_3649del
c.*3396_*3397del (n.*3396_*3397del)
n.3779_3780del
c.151+6995_151+6996del (n.151+6995_151+6996del)
c.899_900del (n.899_900del)
c.656-535_656-534del (n.656-535_656-534del)
 gnomAD v4
2g.144389418A>TCA2661359676ZEB2c.*3527T>A (n.*3527T>A)
c.*33T>A (n.*33T>A)
c.3566T>A (p.Phe1189Tyr)
n.3647T>A
c.*3395T>A (n.*3395T>A)
n.3778T>A
c.151+6994T>A (n.151+6994T>A)
c.898T>A (n.898T>A)
c.656-536T>A (n.656-536T>A)
 gnomAD v4
2g.144389419A>CCA2661359677ZEB2c.*3526T>G (n.*3526T>G)
c.*32T>G (n.*32T>G)
c.3565T>G (p.Phe1189Val)
n.3646T>G
c.*3394T>G (n.*3394T>G)
n.3777T>G
c.151+6993T>G (n.151+6993T>G)
c.897T>G (n.897T>G)
c.656-537T>G (n.656-537T>G)
 gnomAD v4
2g.144389421A=CA1294881196ZEB2c.*3524T= (n.*3524T=)
c.*30T= (n.*30T=)
c.3563T= (p.Phe1188=)
n.3644T=
c.*3392T= (n.*3392T=)
n.3775T=
c.151+6991T= (n.151+6991T=)
c.895T= (n.895T=)
c.656-539T= (n.656-539T=)
2g.144389421A>TCA1898092ZEB2c.*3524T>A (n.*3524T>A)
c.*30T>A (n.*30T>A)
c.3563T>A (p.Phe1188Tyr)
n.3644T>A
c.*3392T>A (n.*3392T>A)
n.3775T>A
c.151+6991T>A (n.151+6991T>A)
c.895T>A (n.895T>A)
c.656-539T>A (n.656-539T>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.144389423A>TCA2661359678ZEB2c.*3522T>A (n.*3522T>A)
c.*28T>A (n.*28T>A)
c.3561T>A (p.Ile1187=)
n.3642T>A
c.*3390T>A (n.*3390T>A)
n.3773T>A
c.151+6989T>A (n.151+6989T>A)
c.893T>A (n.893T>A)
c.656-541T>A (n.656-541T>A)
 gnomAD v4
2g.144389424A=CA1294881197ZEB2c.*3521T= (n.*3521T=)
c.*27T= (n.*27T=)
c.3560T= (p.Ile1187=)
n.3641T=
c.*3389T= (n.*3389T=)
n.3772T=
c.151+6988T= (n.151+6988T=)
c.892T= (n.892T=)
c.656-542T= (n.656-542T=)
2g.144389424A>TCA758235809ZEB2c.*3521T>A (n.*3521T>A)
c.*27T>A (n.*27T>A)
c.3560T>A (p.Ile1187Asn)
n.3641T>A
c.*3389T>A (n.*3389T>A)
n.3772T>A
c.151+6988T>A (n.151+6988T>A)
c.892T>A (n.892T>A)
c.656-542T>A (n.656-542T>A)
 dbSNP gnomAD v3 gnomAD v4
2g.144389425T>ACA536610911ZEB2c.*3520A>T (n.*3520A>T)
c.*26A>T (n.*26A>T)
c.3559A>T (p.Ile1187Phe)
n.3640A>T
c.*3388A>T (n.*3388A>T)
n.3771A>T
c.151+6987A>T (n.151+6987A>T)
c.891A>T (n.891A>T)
c.656-543A>T (n.656-543A>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.144389425T>CCA536610912ZEB2c.*3520A>G (n.*3520A>G)
c.*26A>G (n.*26A>G)
c.3559A>G (p.Ile1187Val)
n.3640A>G
c.*3388A>G (n.*3388A>G)
n.3771A>G
c.151+6987A>G (n.151+6987A>G)
c.891A>G (n.891A>G)
c.656-543A>G (n.656-543A>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.144389425T=CA1294881198ZEB2c.*3520A= (n.*3520A=)
c.*26A= (n.*26A=)
c.3559A= (p.Ile1187=)
n.3640A=
c.*3388A= (n.*3388A=)
n.3771A=
c.151+6987A= (n.151+6987A=)
c.891A= (n.891A=)
c.656-543A= (n.656-543A=)
2g.144389427G>ACA2661359679ZEB2c.*3518C>T (n.*3518C>T)
c.*24C>T (n.*24C>T)
c.3557C>T (p.Pro1186Leu)
n.3638C>T
c.*3386C>T (n.*3386C>T)
n.3769C>T
c.151+6985C>T (n.151+6985C>T)
c.889C>T (n.889C>T)
c.656-545C>T (n.656-545C>T)
 gnomAD v4
2g.144389427G>CCA1294881200ZEB2c.*3518C>G (n.*3518C>G)
c.*24C>G (n.*24C>G)
c.3557C>G (p.Pro1186Arg)
n.3638C>G
c.*3386C>G (n.*3386C>G)
n.3769C>G
c.151+6985C>G (n.151+6985C>G)
c.889C>G (n.889C>G)
c.656-545C>G (n.656-545C>G)
 dbSNP gnomAD v4
2g.144389427G=CA1294881199ZEB2c.*3518C= (n.*3518C=)
c.*24C= (n.*24C=)
c.3557C= (p.Pro1186=)
n.3638C=
c.*3386C= (n.*3386C=)
n.3769C=
c.151+6985C= (n.151+6985C=)
c.889C= (n.889C=)
c.656-545C= (n.656-545C=)
2g.144389431G>ACA536610913ZEB2c.*3514C>T (n.*3514C>T)
c.*20C>T (n.*20C>T)
c.3553C>T (p.Leu1185Phe)
n.3634C>T
c.*3382C>T (n.*3382C>T)
n.3765C>T
c.151+6981C>T (n.151+6981C>T)
c.885C>T (n.885C>T)
c.656-549C>T (n.656-549C>T)
 dbSNP gnomAD v2 gnomAD v4
2g.144389431G=CA1294881201ZEB2c.*3514C= (n.*3514C=)
c.*20C= (n.*20C=)
c.3553C= (p.Leu1185=)
n.3634C=
c.*3382C= (n.*3382C=)
n.3765C=
c.151+6981C= (n.151+6981C=)
c.885C= (n.885C=)
c.656-549C= (n.656-549C=)
2g.144389432delCA2577152043ZEB2c.*3513del (n.*3513del)
c.*19del (n.*19del)
c.3552del (p.Lys1184AsnfsTer14)
n.3633del
c.*3381del (n.*3381del)
n.3764del
c.151+6980del (n.151+6980del)
c.884del (n.884del)
c.656-550del (n.656-550del)
2g.144389432C>TCA2661359680ZEB2c.*3513G>A (n.*3513G>A)
c.*19G>A (n.*19G>A)
c.3552G>A (p.Lys1184=)
n.3633G>A
c.*3381G>A (n.*3381G>A)
n.3764G>A
c.151+6980G>A (n.151+6980G>A)
c.884G>A (n.884G>A)
c.656-550G>A (n.656-550G>A)
 gnomAD v4
2g.144389433T>CCA2577152044ZEB2c.*3512A>G (n.*3512A>G)
c.*18A>G (n.*18A>G)
c.3551A>G (p.Lys1184Arg)
n.3632A>G
c.*3380A>G (n.*3380A>G)
n.3763A>G
c.151+6979A>G (n.151+6979A>G)
c.883A>G (n.883A>G)
c.656-551A>G (n.656-551A>G)
 gnomAD v4
2g.144389435A>TCA2577152045ZEB2c.*3510T>A (n.*3510T>A)
c.*16T>A (n.*16T>A)
c.3549T>A (p.Phe1183Leu)
n.3630T>A
c.*3378T>A (n.*3378T>A)
n.3761T>A
c.151+6977T>A (n.151+6977T>A)
c.881T>A (n.881T>A)
c.656-553T>A (n.656-553T>A)
2g.144389435_144389436insCCA647604966ZEB2c.*3509_*3510insG (n.*3509_*3510insG)
c.*15_*16insG (n.*15_*16insG)
c.3548_3549insG (p.Phe1183LeufsTer2)
n.3629_3630insG
c.*3377_*3378insG (n.*3377_*3378insG)
n.3760_3761insG
c.151+6976_151+6977insG (n.151+6976_151+6977insG)
c.880_881insG (n.880_881insG)
c.656-554_656-553insG (n.656-554_656-553insG)
 COSMIC
2g.144389439T>CCA1294881203ZEB2c.*3506A>G (n.*3506A>G)
c.*12A>G (n.*12A>G)
c.3545A>G (p.His1182Arg)
n.3626A>G
c.*3374A>G (n.*3374A>G)
n.3757A>G
c.151+6973A>G (n.151+6973A>G)
c.877A>G (n.877A>G)
c.656-557A>G (n.656-557A>G)
 dbSNP gnomAD v3 gnomAD v4
2g.144389439T=CA1294881202ZEB2c.*3506A= (n.*3506A=)
c.*12A= (n.*12A=)
c.3545A= (p.His1182=)
n.3626A=
c.*3374A= (n.*3374A=)
n.3757A=
c.151+6973A= (n.151+6973A=)
c.877A= (n.877A=)
c.656-557A= (n.656-557A=)
2g.144389440G>ACA1037411701ZEB2c.*3505C>T (n.*3505C>T)
c.*11C>T (n.*11C>T)
c.3544C>T (p.His1182Tyr)
n.3625C>T
c.*3373C>T (n.*3373C>T)
n.3756C>T
c.151+6972C>T (n.151+6972C>T)
c.876C>T (n.876C>T)
c.656-558C>T (n.656-558C>T)
 dbSNP gnomAD v3 gnomAD v4
2g.144389440G=CA1294881204ZEB2c.*3505C= (n.*3505C=)
c.*11C= (n.*11C=)
c.3544C= (p.His1182=)
n.3625C=
c.*3373C= (n.*3373C=)
n.3756C=
c.151+6972C= (n.151+6972C=)
c.876C= (n.876C=)
c.656-558C= (n.656-558C=)
2g.144389440G>TCA2577152046ZEB2c.*3505C>A (n.*3505C>A)
c.*11C>A (n.*11C>A)
c.3544C>A (p.His1182Asn)
n.3625C>A
c.*3373C>A (n.*3373C>A)
n.3756C>A
c.151+6972C>A (n.151+6972C>A)
c.876C>A (n.876C>A)
c.656-558C>A (n.656-558C>A)
2g.144389441C>TCA2577152047ZEB2c.*3504G>A (n.*3504G>A)
c.*10G>A (n.*10G>A)
c.3543G>A (p.Leu1181=)
n.3624G>A
c.*3372G>A (n.*3372G>A)
n.3755G>A
c.151+6971G>A (n.151+6971G>A)
c.875G>A (n.875G>A)
c.656-559G>A (n.656-559G>A)
2g.144389443G>TCA2577152048ZEB2c.*3502C>A (n.*3502C>A)
c.*8C>A (n.*8C>A)
c.3541C>A (p.Leu1181Met)
n.3622C>A
c.*3370C>A (n.*3370C>A)
n.3753C>A
c.151+6969C>A (n.151+6969C>A)
c.873C>A (n.873C>A)
c.656-561C>A (n.656-561C>A)
2g.144389444T>ACA536610914ZEB2c.*3501A>T (n.*3501A>T)
c.*7A>T (n.*7A>T)
c.3540A>T (p.Leu1180=)
n.3621A>T
c.*3369A>T (n.*3369A>T)
n.3752A>T
c.151+6968A>T (n.151+6968A>T)
c.872A>T (n.872A>T)
c.656-562A>T (n.656-562A>T)
 dbSNP gnomAD v2 gnomAD v4
2g.144389444T=CA1294881205ZEB2c.*3501A= (n.*3501A=)
c.*7A= (n.*7A=)
c.3540A= (p.Leu1180=)
n.3621A=
c.*3369A= (n.*3369A=)
n.3752A=
c.151+6968A= (n.151+6968A=)
c.872A= (n.872A=)
c.656-562A= (n.656-562A=)
2g.144389445A=CA1294881206ZEB2c.*3500T= (n.*3500T=)
c.*6T= (n.*6T=)
c.3539T= (p.Leu1180=)
n.3620T=
c.*3368T= (n.*3368T=)
n.3751T=
c.151+6967T= (n.151+6967T=)
c.871T= (n.871T=)
c.656-563T= (n.656-563T=)
2g.144389445A>CCA16603872ZEB2c.*3500T>G (n.*3500T>G)
c.*6T>G (n.*6T>G)
c.3539T>G (p.Leu1180Arg)
n.3620T>G
c.*3368T>G (n.*3368T>G)
n.3751T>G
c.151+6967T>G (n.151+6967T>G)
c.871T>G (n.871T>G)
c.656-563T>G (n.656-563T>G)
 ClinVar dbSNP
2g.144389446G>ACA2661359681ZEB2c.*3499C>T (n.*3499C>T)
c.*5C>T (n.*5C>T)
c.3538C>T (p.Leu1180=)
n.3619C>T
c.*3367C>T (n.*3367C>T)
n.3750C>T
c.151+6966C>T (n.151+6966C>T)
c.870C>T (n.870C>T)
c.656-564C>T (n.656-564C>T)
 gnomAD v4
2g.144389451T>ACA348698535ZEB2c.*3494A>T (n.*3494A>T)
c.2868A>T (p.Ter956Tyr)
c.3645A>T (p.Ter1215Tyr)
c.3533A>T (p.Asn1178Ile)
n.3614A>T
c.3309A>T (p.Ter1103Tyr)
c.3720A>T (p.Ter1240Tyr)
c.*3362A>T (n.*3362A>T)
n.3745A>T
c.151+6961A>T (n.151+6961A>T)
c.865A>T (n.865A>T)
c.1176A>T (p.Ter392Tyr)
c.3642A>T (p.Ter1214Tyr)
c.656-569A>T (n.656-569A>T)
c.3573A>T (p.Ter1191Tyr)
c.3636A>T (p.Ter1212Tyr)
c.3624A>T (p.Ter1208Tyr)
2g.144389451T>CCA429217439ZEB2c.*3494A>G (n.*3494A>G)
c.2868A>G (p.Ter956=)
c.3645A>G (p.Ter1215=)
c.3533A>G (p.Asn1178Ser)
n.3614A>G
c.3309A>G (p.Ter1103=)
c.3720A>G (p.Ter1240=)
c.*3362A>G (n.*3362A>G)
n.3745A>G
c.151+6961A>G (n.151+6961A>G)
c.865A>G (n.865A>G)
c.1176A>G (p.Ter392=)
c.3642A>G (p.Ter1214=)
c.656-569A>G (n.656-569A>G)
c.3573A>G (p.Ter1191=)
c.3636A>G (p.Ter1212=)
c.3624A>G (p.Ter1208=)
2g.144389451T>GCA348698536ZEB2c.*3494A>C (n.*3494A>C)
c.2868A>C (p.Ter956Tyr)
c.3645A>C (p.Ter1215Tyr)
c.3533A>C (p.Asn1178Thr)
n.3614A>C
c.3309A>C (p.Ter1103Tyr)
c.3720A>C (p.Ter1240Tyr)
c.*3362A>C (n.*3362A>C)
n.3745A>C
c.151+6961A>C (n.151+6961A>C)
c.865A>C (n.865A>C)
c.1176A>C (p.Ter392Tyr)
c.3642A>C (p.Ter1214Tyr)
c.656-569A>C (n.656-569A>C)
c.3573A>C (p.Ter1191Tyr)
c.3636A>C (p.Ter1212Tyr)
c.3624A>C (p.Ter1208Tyr)
 COSMIC
2g.144389452T>ACA348698537ZEB2c.*3493A>T (n.*3493A>T)
c.2867A>T (p.Ter956Leu)
c.3644A>T (p.Ter1215Leu)
c.3532A>T (p.Asn1178Tyr)
n.3613A>T
c.3308A>T (p.Ter1103Leu)
c.3719A>T (p.Ter1240Leu)
c.*3361A>T (n.*3361A>T)
n.3744A>T
c.151+6960A>T (n.151+6960A>T)
c.864A>T (n.864A>T)
c.1175A>T (p.Ter392Leu)
c.3641A>T (p.Ter1214Leu)
c.656-570A>T (n.656-570A>T)
c.3572A>T (p.Ter1191Leu)
c.3635A>T (p.Ter1212Leu)
c.3623A>T (p.Ter1208Leu)
2g.144389452T>CCA429217440ZEB2c.*3493A>G (n.*3493A>G)
c.2867A>G (p.Ter956=)
c.3644A>G (p.Ter1215=)
c.3532A>G (p.Asn1178Asp)
n.3613A>G
c.3308A>G (p.Ter1103=)
c.3719A>G (p.Ter1240=)
c.*3361A>G (n.*3361A>G)
n.3744A>G
c.151+6960A>G (n.151+6960A>G)
c.864A>G (n.864A>G)
c.1175A>G (p.Ter392=)
c.3641A>G (p.Ter1214=)
c.656-570A>G (n.656-570A>G)
c.3572A>G (p.Ter1191=)
c.3635A>G (p.Ter1212=)
c.3623A>G (p.Ter1208=)
2g.144389452T>GCA348698538ZEB2c.*3493A>C (n.*3493A>C)
c.2867A>C (p.Ter956Ser)
c.3644A>C (p.Ter1215Ser)
c.3532A>C (p.Asn1178His)
n.3613A>C
c.3308A>C (p.Ter1103Ser)
c.3719A>C (p.Ter1240Ser)
c.*3361A>C (n.*3361A>C)
n.3744A>C
c.151+6960A>C (n.151+6960A>C)
c.864A>C (n.864A>C)
c.1175A>C (p.Ter392Ser)
c.3641A>C (p.Ter1214Ser)
c.656-570A>C (n.656-570A>C)
c.3572A>C (p.Ter1191Ser)
c.3635A>C (p.Ter1212Ser)
c.3623A>C (p.Ter1208Ser)
 gnomAD v4
2g.144389453A=CA1294881207ZEB2c.*3492T= (n.*3492T=)
c.2866T= (p.Ter956=)
c.3643T= (p.Ter1215=)
c.3531T= (p.Cys1177=)
n.3612T=
c.3307T= (p.Ter1103=)
c.3718T= (p.Ter1240=)
c.*3360T= (n.*3360T=)
n.3743T=
c.151+6959T= (n.151+6959T=)
c.863T= (n.863T=)
c.1174T= (p.Ter392=)
c.3640T= (p.Ter1214=)
c.656-571T= (n.656-571T=)
c.3571T= (p.Ter1191=)
c.3634T= (p.Ter1212=)
c.3622T= (p.Ter1208=)
2g.144389453A>CCA348698539ZEB2c.*3492T>G (n.*3492T>G)
c.2866T>G (p.Ter956Glu)
c.3643T>G (p.Ter1215Glu)
c.3531T>G (p.Cys1177Trp)
n.3612T>G
c.3307T>G (p.Ter1103Glu)
c.3718T>G (p.Ter1240Glu)
c.*3360T>G (n.*3360T>G)
n.3743T>G
c.151+6959T>G (n.151+6959T>G)
c.863T>G (n.863T>G)
c.1174T>G (p.Ter392Glu)
c.3640T>G (p.Ter1214Glu)
c.656-571T>G (n.656-571T>G)
c.3571T>G (p.Ter1191Glu)
c.3634T>G (p.Ter1212Glu)
c.3622T>G (p.Ter1208Glu)
 COSMIC
2g.144389453A>GCA57549171ZEB2c.*3492T>C (n.*3492T>C)
c.2866T>C (p.Ter956Gln)
c.3643T>C (p.Ter1215Gln)
c.3531T>C (p.Cys1177=)
n.3612T>C
c.3307T>C (p.Ter1103Gln)
c.3718T>C (p.Ter1240Gln)
c.*3360T>C (n.*3360T>C)
n.3743T>C
c.151+6959T>C (n.151+6959T>C)
c.863T>C (n.863T>C)
c.1174T>C (p.Ter392Gln)
c.3640T>C (p.Ter1214Gln)
c.656-571T>C (n.656-571T>C)
c.3571T>C (p.Ter1191Gln)
c.3634T>C (p.Ter1212Gln)
c.3622T>C (p.Ter1208Gln)
 dbSNP
2g.144389453A>TCA348698540ZEB2c.*3492T>A (n.*3492T>A)
c.2866T>A (p.Ter956Lys)
c.3643T>A (p.Ter1215Lys)
c.3531T>A (p.Cys1177Ter)
n.3612T>A
c.3307T>A (p.Ter1103Lys)
c.3718T>A (p.Ter1240Lys)
c.*3360T>A (n.*3360T>A)
n.3743T>A
c.151+6959T>A (n.151+6959T>A)
c.863T>A (n.863T>A)
c.1174T>A (p.Ter392Lys)
c.3640T>A (p.Ter1214Lys)
c.656-571T>A (n.656-571T>A)
c.3571T>A (p.Ter1191Lys)
c.3634T>A (p.Ter1212Lys)
c.3622T>A (p.Ter1208Lys)
2g.144389454C>ACA348698541ZEB2c.*3491G>T (n.*3491G>T)
c.2865G>T (p.Met955Ile)
c.3642G>T (p.Met1214Ile)
c.3530G>T (p.Cys1177Phe)
n.3611G>T
c.3306G>T (p.Met1102Ile)
c.3717G>T (p.Met1239Ile)
c.*3359G>T (n.*3359G>T)
n.3742G>T
c.151+6958G>T (n.151+6958G>T)
c.862G>T (n.862G>T)
c.1173G>T (p.Met391Ile)
c.3639G>T (p.Met1213Ile)
c.656-572G>T (n.656-572G>T)
c.3570G>T (p.Met1190Ile)
c.3633G>T (p.Met1211Ile)
c.3621G>T (p.Met1207Ile)
2g.144389454C>GCA348698543ZEB2c.*3491G>C (n.*3491G>C)
c.2865G>C (p.Met955Ile)
c.3642G>C (p.Met1214Ile)
c.3530G>C (p.Cys1177Ser)
n.3611G>C
c.3306G>C (p.Met1102Ile)
c.3717G>C (p.Met1239Ile)
c.*3359G>C (n.*3359G>C)
n.3742G>C
c.151+6958G>C (n.151+6958G>C)
c.862G>C (n.862G>C)
c.1173G>C (p.Met391Ile)
c.3639G>C (p.Met1213Ile)
c.656-572G>C (n.656-572G>C)
c.3570G>C (p.Met1190Ile)
c.3633G>C (p.Met1211Ile)
c.3621G>C (p.Met1207Ile)
2g.144389454C>TCA348698542ZEB2c.*3491G>A (n.*3491G>A)
c.2865G>A (p.Met955Ile)
c.3642G>A (p.Met1214Ile)
c.3530G>A (p.Cys1177Tyr)
n.3611G>A
c.3306G>A (p.Met1102Ile)
c.3717G>A (p.Met1239Ile)
c.*3359G>A (n.*3359G>A)
n.3742G>A
c.151+6958G>A (n.151+6958G>A)
c.862G>A (n.862G>A)
c.1173G>A (p.Met391Ile)
c.3639G>A (p.Met1213Ile)
c.656-572G>A (n.656-572G>A)
c.3570G>A (p.Met1190Ile)
c.3633G>A (p.Met1211Ile)
c.3621G>A (p.Met1207Ile)
2g.144389455A=CA1294881208ZEB2c.*3490T= (n.*3490T=)
c.2864T= (p.Met955=)
c.3641T= (p.Met1214=)
c.3529T= (p.Cys1177=)
n.3610T=
c.3305T= (p.Met1102=)
c.3716T= (p.Met1239=)
c.*3358T= (n.*3358T=)
n.3741T=
c.151+6957T= (n.151+6957T=)
c.861T= (n.861T=)
c.1172T= (p.Met391=)
c.3638T= (p.Met1213=)
c.656-573T= (n.656-573T=)
c.3569T= (p.Met1190=)
c.3632T= (p.Met1211=)
c.3620T= (p.Met1207=)
2g.144389455A>CCA348698544ZEB2c.*3490T>G (n.*3490T>G)
c.2864T>G (p.Met955Arg)
c.3641T>G (p.Met1214Arg)
c.3529T>G (p.Cys1177Gly)
n.3610T>G
c.3305T>G (p.Met1102Arg)
c.3716T>G (p.Met1239Arg)
c.*3358T>G (n.*3358T>G)
n.3741T>G
c.151+6957T>G (n.151+6957T>G)
c.861T>G (n.861T>G)
c.1172T>G (p.Met391Arg)
c.3638T>G (p.Met1213Arg)
c.656-573T>G (n.656-573T>G)
c.3569T>G (p.Met1190Arg)
c.3632T>G (p.Met1211Arg)
c.3620T>G (p.Met1207Arg)
2g.144389455A>GCA348698546ZEB2c.*3490T>C (n.*3490T>C)
c.2864T>C (p.Met955Thr)
c.3641T>C (p.Met1214Thr)
c.3529T>C (p.Cys1177Arg)
n.3610T>C
c.3305T>C (p.Met1102Thr)
c.3716T>C (p.Met1239Thr)
c.*3358T>C (n.*3358T>C)
n.3741T>C
c.151+6957T>C (n.151+6957T>C)
c.861T>C (n.861T>C)
c.1172T>C (p.Met391Thr)
c.3638T>C (p.Met1213Thr)
c.656-573T>C (n.656-573T>C)
c.3569T>C (p.Met1190Thr)
c.3632T>C (p.Met1211Thr)
c.3620T>C (p.Met1207Thr)
 dbSNP gnomAD v2 gnomAD v4
2g.144389455A>TCA348698545ZEB2c.*3490T>A (n.*3490T>A)
c.2864T>A (p.Met955Lys)
c.3641T>A (p.Met1214Lys)
c.3529T>A (p.Cys1177Ser)
n.3610T>A
c.3305T>A (p.Met1102Lys)
c.3716T>A (p.Met1239Lys)
c.*3358T>A (n.*3358T>A)
n.3741T>A
c.151+6957T>A (n.151+6957T>A)
c.861T>A (n.861T>A)
c.1172T>A (p.Met391Lys)
c.3638T>A (p.Met1213Lys)
c.656-573T>A (n.656-573T>A)
c.3569T>A (p.Met1190Lys)
c.3632T>A (p.Met1211Lys)
c.3620T>A (p.Met1207Lys)
2g.144389456T>ACA348698547ZEB2c.*3489A>T (n.*3489A>T)
c.2863A>T (p.Met955Leu)
c.3640A>T (p.Met1214Leu)
c.3528A>T (p.Ala1176=)
n.3609A>T
c.3304A>T (p.Met1102Leu)
c.3715A>T (p.Met1239Leu)
c.*3357A>T (n.*3357A>T)
n.3740A>T
c.151+6956A>T (n.151+6956A>T)
c.860A>T (n.860A>T)
c.1171A>T (p.Met391Leu)
c.3637A>T (p.Met1213Leu)
c.656-574A>T (n.656-574A>T)
c.3568A>T (p.Met1190Leu)
c.3631A>T (p.Met1211Leu)
c.3619A>T (p.Met1207Leu)
2g.144389456T>CCA1898093ZEB2c.*3489A>G (n.*3489A>G)
c.2863A>G (p.Met955Val)
c.3640A>G (p.Met1214Val)
c.3528A>G (p.Ala1176=)
n.3609A>G
c.3304A>G (p.Met1102Val)
c.3715A>G (p.Met1239Val)
c.*3357A>G (n.*3357A>G)
n.3740A>G
c.151+6956A>G (n.151+6956A>G)
c.860A>G (n.860A>G)
c.1171A>G (p.Met391Val)
c.3637A>G (p.Met1213Val)
c.656-574A>G (n.656-574A>G)
c.3568A>G (p.Met1190Val)
c.3631A>G (p.Met1211Val)
c.3619A>G (p.Met1207Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.144389456T>GCA348698548ZEB2c.*3489A>C (n.*3489A>C)
c.2863A>C (p.Met955Leu)
c.3640A>C (p.Met1214Leu)
c.3528A>C (p.Ala1176=)
n.3609A>C
c.3304A>C (p.Met1102Leu)
c.3715A>C (p.Met1239Leu)
c.*3357A>C (n.*3357A>C)
n.3740A>C
c.151+6956A>C (n.151+6956A>C)
c.860A>C (n.860A>C)
c.1171A>C (p.Met391Leu)
c.3637A>C (p.Met1213Leu)
c.656-574A>C (n.656-574A>C)
c.3568A>C (p.Met1190Leu)
c.3631A>C (p.Met1211Leu)
c.3619A>C (p.Met1207Leu)
2g.144389456T=CA1294881209ZEB2c.*3489A= (n.*3489A=)
c.2863A= (p.Met955=)
c.3640A= (p.Met1214=)
c.3528A= (p.Ala1176=)
n.3609A=
c.3304A= (p.Met1102=)
c.3715A= (p.Met1239=)
c.*3357A= (n.*3357A=)
n.3740A=
c.151+6956A= (n.151+6956A=)
c.860A= (n.860A=)
c.1171A= (p.Met391=)
c.3637A= (p.Met1213=)
c.656-574A= (n.656-574A=)
c.3568A= (p.Met1190=)
c.3631A= (p.Met1211=)
c.3619A= (p.Met1207=)
2g.144389457G>ACA429217443ZEB2c.*3488C>T (n.*3488C>T)
c.2862C>T (p.Gly954=)
c.3639C>T (p.Gly1213=)
c.3527C>T (p.Ala1176Val)
n.3608C>T
c.3303C>T (p.Gly1101=)
c.3714C>T (p.Gly1238=)
c.*3356C>T (n.*3356C>T)
n.3739C>T
c.151+6955C>T (n.151+6955C>T)
c.859C>T (n.859C>T)
c.1170C>T (p.Gly390=)
c.3636C>T (p.Gly1212=)
c.656-575C>T (n.656-575C>T)
c.3567C>T (p.Gly1189=)
c.3630C>T (p.Gly1210=)
c.3618C>T (p.Gly1206=)
2g.144389457G>CCA429217442ZEB2c.*3488C>G (n.*3488C>G)
c.2862C>G (p.Gly954=)
c.3639C>G (p.Gly1213=)
c.3527C>G (p.Ala1176Gly)
n.3608C>G
c.3303C>G (p.Gly1101=)
c.3714C>G (p.Gly1238=)
c.*3356C>G (n.*3356C>G)
n.3739C>G
c.151+6955C>G (n.151+6955C>G)
c.859C>G (n.859C>G)
c.1170C>G (p.Gly390=)
c.3636C>G (p.Gly1212=)
c.656-575C>G (n.656-575C>G)
c.3567C>G (p.Gly1189=)
c.3630C>G (p.Gly1210=)
c.3618C>G (p.Gly1206=)
2g.144389457G>TCA429217441ZEB2c.*3488C>A (n.*3488C>A)
c.2862C>A (p.Gly954=)
c.3639C>A (p.Gly1213=)
c.3527C>A (p.Ala1176Glu)
n.3608C>A
c.3303C>A (p.Gly1101=)
c.3714C>A (p.Gly1238=)
c.*3356C>A (n.*3356C>A)
n.3739C>A
c.151+6955C>A (n.151+6955C>A)
c.859C>A (n.859C>A)
c.1170C>A (p.Gly390=)
c.3636C>A (p.Gly1212=)
c.656-575C>A (n.656-575C>A)
c.3567C>A (p.Gly1189=)
c.3630C>A (p.Gly1210=)
c.3618C>A (p.Gly1206=)
2g.144389458C>ACA348698549ZEB2c.*3487G>T (n.*3487G>T)
c.2861G>T (p.Gly954Val)
c.3638G>T (p.Gly1213Val)
c.3526G>T (p.Ala1176Ser)
n.3607G>T
c.3302G>T (p.Gly1101Val)
c.3713G>T (p.Gly1238Val)
c.*3355G>T (n.*3355G>T)
n.3738G>T
c.151+6954G>T (n.151+6954G>T)
c.858G>T (n.858G>T)
c.1169G>T (p.Gly390Val)
c.3635G>T (p.Gly1212Val)
c.656-576G>T (n.656-576G>T)
c.3566G>T (p.Gly1189Val)
c.3629G>T (p.Gly1210Val)
c.3617G>T (p.Gly1206Val)
 ClinVar
2g.144389458C>GCA348698550ZEB2c.*3487G>C (n.*3487G>C)
c.2861G>C (p.Gly954Ala)
c.3638G>C (p.Gly1213Ala)
c.3526G>C (p.Ala1176Pro)
n.3607G>C
c.3302G>C (p.Gly1101Ala)
c.3713G>C (p.Gly1238Ala)
c.*3355G>C (n.*3355G>C)
n.3738G>C
c.151+6954G>C (n.151+6954G>C)
c.858G>C (n.858G>C)
c.1169G>C (p.Gly390Ala)
c.3635G>C (p.Gly1212Ala)
c.656-576G>C (n.656-576G>C)
c.3566G>C (p.Gly1189Ala)
c.3629G>C (p.Gly1210Ala)
c.3617G>C (p.Gly1206Ala)
2g.144389458C>TCA348698551ZEB2c.*3487G>A (n.*3487G>A)
c.2861G>A (p.Gly954Asp)
c.3638G>A (p.Gly1213Asp)
c.3526G>A (p.Ala1176Thr)
n.3607G>A
c.3302G>A (p.Gly1101Asp)
c.3713G>A (p.Gly1238Asp)
c.*3355G>A (n.*3355G>A)
n.3738G>A
c.151+6954G>A (n.151+6954G>A)
c.858G>A (n.858G>A)
c.1169G>A (p.Gly390Asp)
c.3635G>A (p.Gly1212Asp)
c.656-576G>A (n.656-576G>A)
c.3566G>A (p.Gly1189Asp)
c.3629G>A (p.Gly1210Asp)
c.3617G>A (p.Gly1206Asp)
2g.144389459C>ACA348698554ZEB2c.*3486G>T (n.*3486G>T)
c.2860G>T (p.Gly954Cys)
c.3637G>T (p.Gly1213Cys)
c.3525G>T (p.Met1175Ile)
n.3606G>T
c.3301G>T (p.Gly1101Cys)
c.3712G>T (p.Gly1238Cys)
c.*3354G>T (n.*3354G>T)
n.3737G>T
c.151+6953G>T (n.151+6953G>T)
c.857G>T (n.857G>T)
c.1168G>T (p.Gly390Cys)
c.3634G>T (p.Gly1212Cys)
c.656-577G>T (n.656-577G>T)
c.3565G>T (p.Gly1189Cys)
c.3628G>T (p.Gly1210Cys)
c.3616G>T (p.Gly1206Cys)
2g.144389459C=CA1294881210ZEB2c.*3486G= (n.*3486G=)
c.2860G= (p.Gly954=)
c.3637G= (p.Gly1213=)
c.3525G= (p.Met1175=)
n.3606G=
c.3301G= (p.Gly1101=)
c.3712G= (p.Gly1238=)
c.*3354G= (n.*3354G=)
n.3737G=
c.151+6953G= (n.151+6953G=)
c.857G= (n.857G=)
c.1168G= (p.Gly390=)
c.3634G= (p.Gly1212=)
c.656-577G= (n.656-577G=)
c.3565G= (p.Gly1189=)
c.3628G= (p.Gly1210=)
c.3616G= (p.Gly1206=)
2g.144389459C>GCA348698552ZEB2c.*3486G>C (n.*3486G>C)
c.2860G>C (p.Gly954Arg)
c.3637G>C (p.Gly1213Arg)
c.3525G>C (p.Met1175Ile)
n.3606G>C
c.3301G>C (p.Gly1101Arg)
c.3712G>C (p.Gly1238Arg)
c.*3354G>C (n.*3354G>C)
n.3737G>C
c.151+6953G>C (n.151+6953G>C)
c.857G>C (n.857G>C)
c.1168G>C (p.Gly390Arg)
c.3634G>C (p.Gly1212Arg)
c.656-577G>C (n.656-577G>C)
c.3565G>C (p.Gly1189Arg)
c.3628G>C (p.Gly1210Arg)
c.3616G>C (p.Gly1206Arg)
2g.144389459C>TCA348698553ZEB2c.*3486G>A (n.*3486G>A)
c.2860G>A (p.Gly954Ser)
c.3637G>A (p.Gly1213Ser)
c.3525G>A (p.Met1175Ile)
n.3606G>A
c.3301G>A (p.Gly1101Ser)
c.3712G>A (p.Gly1238Ser)
c.*3354G>A (n.*3354G>A)
n.3737G>A
c.151+6953G>A (n.151+6953G>A)
c.857G>A (n.857G>A)
c.1168G>A (p.Gly390Ser)
c.3634G>A (p.Gly1212Ser)
c.656-577G>A (n.656-577G>A)
c.3565G>A (p.Gly1189Ser)
c.3628G>A (p.Gly1210Ser)
c.3616G>A (p.Gly1206Ser)
 dbSNP
2g.144389460A>CCA348698555ZEB2c.*3485T>G (n.*3485T>G)
c.2859T>G (p.Asp953Glu)
c.3636T>G (p.Asp1212Glu)
c.3524T>G (p.Met1175Arg)
n.3605T>G
c.3300T>G (p.Asp1100Glu)
c.3711T>G (p.Asp1237Glu)
c.*3353T>G (n.*3353T>G)
n.3736T>G
c.151+6952T>G (n.151+6952T>G)
c.856T>G (n.856T>G)
c.1167T>G (p.Asp389Glu)
c.3633T>G (p.Asp1211Glu)
c.656-578T>G (n.656-578T>G)
c.3564T>G (p.Asp1188Glu)
c.3627T>G (p.Asp1209Glu)
c.3615T>G (p.Asp1205Glu)
2g.144389460A>GCA429217444ZEB2c.*3485T>C (n.*3485T>C)
c.2859T>C (p.Asp953=)
c.3636T>C (p.Asp1212=)
c.3524T>C (p.Met1175Thr)
n.3605T>C
c.3300T>C (p.Asp1100=)
c.3711T>C (p.Asp1237=)
c.*3353T>C (n.*3353T>C)
n.3736T>C
c.151+6952T>C (n.151+6952T>C)
c.856T>C (n.856T>C)
c.1167T>C (p.Asp389=)
c.3633T>C (p.Asp1211=)
c.656-578T>C (n.656-578T>C)
c.3564T>C (p.Asp1188=)
c.3627T>C (p.Asp1209=)
c.3615T>C (p.Asp1205=)
2g.144389460A>TCA348698556ZEB2c.*3485T>A (n.*3485T>A)
c.2859T>A (p.Asp953Glu)
c.3636T>A (p.Asp1212Glu)
c.3524T>A (p.Met1175Lys)
n.3605T>A
c.3300T>A (p.Asp1100Glu)
c.3711T>A (p.Asp1237Glu)
c.*3353T>A (n.*3353T>A)
n.3736T>A
c.151+6952T>A (n.151+6952T>A)
c.856T>A (n.856T>A)
c.1167T>A (p.Asp389Glu)
c.3633T>A (p.Asp1211Glu)
c.656-578T>A (n.656-578T>A)
c.3564T>A (p.Asp1188Glu)
c.3627T>A (p.Asp1209Glu)
c.3615T>A (p.Asp1205Glu)
2g.144389461T>ACA348698557ZEB2c.*3484A>T (n.*3484A>T)
c.2858A>T (p.Asp953Val)
c.3635A>T (p.Asp1212Val)
c.3523A>T (p.Met1175Leu)
n.3604A>T
c.3299A>T (p.Asp1100Val)
c.3710A>T (p.Asp1237Val)
c.*3352A>T (n.*3352A>T)
n.3735A>T
c.151+6951A>T (n.151+6951A>T)
c.855A>T (n.855A>T)
c.1166A>T (p.Asp389Val)
c.3632A>T (p.Asp1211Val)
c.656-579A>T (n.656-579A>T)
c.3563A>T (p.Asp1188Val)
c.3626A>T (p.Asp1209Val)
c.3614A>T (p.Asp1205Val)
2g.144389461T>CCA1898094ZEB2c.*3484A>G (n.*3484A>G)
c.2858A>G (p.Asp953Gly)
c.3635A>G (p.Asp1212Gly)
c.3523A>G (p.Met1175Val)
n.3604A>G
c.3299A>G (p.Asp1100Gly)
c.3710A>G (p.Asp1237Gly)
c.*3352A>G (n.*3352A>G)
n.3735A>G
c.151+6951A>G (n.151+6951A>G)
c.855A>G (n.855A>G)
c.1166A>G (p.Asp389Gly)
c.3632A>G (p.Asp1211Gly)
c.656-579A>G (n.656-579A>G)
c.3563A>G (p.Asp1188Gly)
c.3626A>G (p.Asp1209Gly)
c.3614A>G (p.Asp1205Gly)
 dbSNP ExAC gnomAD v2
2g.144389461T>GCA348698558ZEB2c.*3484A>C (n.*3484A>C)
c.2858A>C (p.Asp953Ala)
c.3635A>C (p.Asp1212Ala)
c.3523A>C (p.Met1175Leu)
n.3604A>C
c.3299A>C (p.Asp1100Ala)
c.3710A>C (p.Asp1237Ala)
c.*3352A>C (n.*3352A>C)
n.3735A>C
c.151+6951A>C (n.151+6951A>C)
c.855A>C (n.855A>C)
c.1166A>C (p.Asp389Ala)
c.3632A>C (p.Asp1211Ala)
c.656-579A>C (n.656-579A>C)
c.3563A>C (p.Asp1188Ala)
c.3626A>C (p.Asp1209Ala)
c.3614A>C (p.Asp1205Ala)
2g.144389461T=CA1294881211ZEB2c.*3484A= (n.*3484A=)
c.2858A= (p.Asp953=)
c.3635A= (p.Asp1212=)
c.3523A= (p.Met1175=)
n.3604A=
c.3299A= (p.Asp1100=)
c.3710A= (p.Asp1237=)
c.*3352A= (n.*3352A=)
n.3735A=
c.151+6951A= (n.151+6951A=)
c.855A= (n.855A=)
c.1166A= (p.Asp389=)
c.3632A= (p.Asp1211=)
c.656-579A= (n.656-579A=)
c.3563A= (p.Asp1188=)
c.3626A= (p.Asp1209=)
c.3614A= (p.Asp1205=)
2g.144389462C>ACA348698559ZEB2c.*3483G>T (n.*3483G>T)
c.2857G>T (p.Asp953Tyr)
c.3634G>T (p.Asp1212Tyr)
c.3522G>T (p.Lys1174Asn)
n.3603G>T
c.3298G>T (p.Asp1100Tyr)
c.3709G>T (p.Asp1237Tyr)
c.*3351G>T (n.*3351G>T)
n.3734G>T
c.151+6950G>T (n.151+6950G>T)
c.854G>T (n.854G>T)
c.1165G>T (p.Asp389Tyr)
c.3631G>T (p.Asp1211Tyr)
c.656-580G>T (n.656-580G>T)
c.3562G>T (p.Asp1188Tyr)
c.3625G>T (p.Asp1209Tyr)
c.3613G>T (p.Asp1205Tyr)
2g.144389462C>GCA348698561ZEB2c.*3483G>C (n.*3483G>C)
c.2857G>C (p.Asp953His)
c.3634G>C (p.Asp1212His)
c.3522G>C (p.Lys1174Asn)
n.3603G>C
c.3298G>C (p.Asp1100His)
c.3709G>C (p.Asp1237His)
c.*3351G>C (n.*3351G>C)
n.3734G>C
c.151+6950G>C (n.151+6950G>C)
c.854G>C (n.854G>C)
c.1165G>C (p.Asp389His)
c.3631G>C (p.Asp1211His)
c.656-580G>C (n.656-580G>C)
c.3562G>C (p.Asp1188His)
c.3625G>C (p.Asp1209His)
c.3613G>C (p.Asp1205His)
2g.144389462C>TCA348698560ZEB2c.*3483G>A (n.*3483G>A)
c.2857G>A (p.Asp953Asn)
c.3634G>A (p.Asp1212Asn)
c.3522G>A (p.Lys1174=)
n.3603G>A
c.3298G>A (p.Asp1100Asn)
c.3709G>A (p.Asp1237Asn)
c.*3351G>A (n.*3351G>A)
n.3734G>A
c.151+6950G>A (n.151+6950G>A)
c.854G>A (n.854G>A)
c.1165G>A (p.Asp389Asn)
c.3631G>A (p.Asp1211Asn)
c.656-580G>A (n.656-580G>A)
c.3562G>A (p.Asp1188Asn)
c.3625G>A (p.Asp1209Asn)
c.3613G>A (p.Asp1205Asn)
2g.144389463T>ACA348698562ZEB2c.*3482A>T (n.*3482A>T)
c.2856A>T (p.Glu952Asp)
c.3633A>T (p.Glu1211Asp)
c.3521A>T (p.Lys1174Met)
n.3602A>T
c.3297A>T (p.Glu1099Asp)
c.3708A>T (p.Glu1236Asp)
c.*3350A>T (n.*3350A>T)
n.3733A>T
c.151+6949A>T (n.151+6949A>T)
c.853A>T (n.853A>T)
c.1164A>T (p.Glu388Asp)
c.3630A>T (p.Glu1210Asp)
c.656-581A>T (n.656-581A>T)
c.3561A>T (p.Glu1187Asp)
c.3624A>T (p.Glu1208Asp)
c.3612A>T (p.Glu1204Asp)
2g.144389463T>CCA429217447ZEB2c.*3482A>G (n.*3482A>G)
c.2856A>G (p.Glu952=)
c.3633A>G (p.Glu1211=)
c.3521A>G (p.Lys1174Arg)
n.3602A>G
c.3297A>G (p.Glu1099=)
c.3708A>G (p.Glu1236=)
c.*3350A>G (n.*3350A>G)
n.3733A>G
c.151+6949A>G (n.151+6949A>G)
c.853A>G (n.853A>G)
c.1164A>G (p.Glu388=)
c.3630A>G (p.Glu1210=)
c.656-581A>G (n.656-581A>G)
c.3561A>G (p.Glu1187=)
c.3624A>G (p.Glu1208=)
c.3612A>G (p.Glu1204=)
2g.144389463T>GCA348698563ZEB2c.*3482A>C (n.*3482A>C)
c.2856A>C (p.Glu952Asp)
c.3633A>C (p.Glu1211Asp)
c.3521A>C (p.Lys1174Thr)
n.3602A>C
c.3297A>C (p.Glu1099Asp)
c.3708A>C (p.Glu1236Asp)
c.*3350A>C (n.*3350A>C)
n.3733A>C
c.151+6949A>C (n.151+6949A>C)
c.853A>C (n.853A>C)
c.1164A>C (p.Glu388Asp)
c.3630A>C (p.Glu1210Asp)
c.656-581A>C (n.656-581A>C)
c.3561A>C (p.Glu1187Asp)
c.3624A>C (p.Glu1208Asp)
c.3612A>C (p.Glu1204Asp)
2g.144389464T>ACA348698564ZEB2c.*3481A>T (n.*3481A>T)
c.2855A>T (p.Glu952Val)
c.3632A>T (p.Glu1211Val)
c.3520A>T (p.Lys1174Ter)
n.3601A>T
c.3296A>T (p.Glu1099Val)
c.3707A>T (p.Glu1236Val)
c.*3349A>T (n.*3349A>T)
n.3732A>T
c.151+6948A>T (n.151+6948A>T)
c.852A>T (n.852A>T)
c.1163A>T (p.Glu388Val)
c.3629A>T (p.Glu1210Val)
c.656-582A>T (n.656-582A>T)
c.3560A>T (p.Glu1187Val)
c.3623A>T (p.Glu1208Val)
c.3611A>T (p.Glu1204Val)
2g.144389464T>CCA348698565ZEB2c.*3481A>G (n.*3481A>G)
c.2855A>G (p.Glu952Gly)
c.3632A>G (p.Glu1211Gly)
c.3520A>G (p.Lys1174Glu)
n.3601A>G
c.3296A>G (p.Glu1099Gly)
c.3707A>G (p.Glu1236Gly)
c.*3349A>G (n.*3349A>G)
n.3732A>G
c.151+6948A>G (n.151+6948A>G)
c.852A>G (n.852A>G)
c.1163A>G (p.Glu388Gly)
c.3629A>G (p.Glu1210Gly)
c.656-582A>G (n.656-582A>G)
c.3560A>G (p.Glu1187Gly)
c.3623A>G (p.Glu1208Gly)
c.3611A>G (p.Glu1204Gly)
2g.144389464T>GCA348698566ZEB2c.*3481A>C (n.*3481A>C)
c.2855A>C (p.Glu952Ala)
c.3632A>C (p.Glu1211Ala)
c.3520A>C (p.Lys1174Gln)
n.3601A>C
c.3296A>C (p.Glu1099Ala)
c.3707A>C (p.Glu1236Ala)
c.*3349A>C (n.*3349A>C)
n.3732A>C
c.151+6948A>C (n.151+6948A>C)
c.852A>C (n.852A>C)
c.1163A>C (p.Glu388Ala)
c.3629A>C (p.Glu1210Ala)
c.656-582A>C (n.656-582A>C)
c.3560A>C (p.Glu1187Ala)
c.3623A>C (p.Glu1208Ala)
c.3611A>C (p.Glu1204Ala)
2g.144389465C>ACA348698567ZEB2c.*3480G>T (n.*3480G>T)
c.2854G>T (p.Glu952Ter)
c.3631G>T (p.Glu1211Ter)
c.3519G>T (p.Trp1173Cys)
n.3600G>T
c.3295G>T (p.Glu1099Ter)
c.3706G>T (p.Glu1236Ter)
c.*3348G>T (n.*3348G>T)
n.3731G>T
c.151+6947G>T (n.151+6947G>T)
c.851G>T (n.851G>T)
c.1162G>T (p.Glu388Ter)
c.3628G>T (p.Glu1210Ter)
c.656-583G>T (n.656-583G>T)
c.3559G>T (p.Glu1187Ter)
c.3622G>T (p.Glu1208Ter)
c.3610G>T (p.Glu1204Ter)
2g.144389465C>GCA348698568ZEB2c.*3480G>C (n.*3480G>C)
c.2854G>C (p.Glu952Gln)
c.3631G>C (p.Glu1211Gln)
c.3519G>C (p.Trp1173Cys)
n.3600G>C
c.3295G>C (p.Glu1099Gln)
c.3706G>C (p.Glu1236Gln)
c.*3348G>C (n.*3348G>C)
n.3731G>C
c.151+6947G>C (n.151+6947G>C)
c.851G>C (n.851G>C)
c.1162G>C (p.Glu388Gln)
c.3628G>C (p.Glu1210Gln)
c.656-583G>C (n.656-583G>C)
c.3559G>C (p.Glu1187Gln)
c.3622G>C (p.Glu1208Gln)
c.3610G>C (p.Glu1204Gln)
2g.144389465C>TCA348698569ZEB2c.*3480G>A (n.*3480G>A)
c.2854G>A (p.Glu952Lys)
c.3631G>A (p.Glu1211Lys)
c.3519G>A (p.Trp1173Ter)
n.3600G>A
c.3295G>A (p.Glu1099Lys)
c.3706G>A (p.Glu1236Lys)
c.*3348G>A (n.*3348G>A)
n.3731G>A
c.151+6947G>A (n.151+6947G>A)
c.851G>A (n.851G>A)
c.1162G>A (p.Glu388Lys)
c.3628G>A (p.Glu1210Lys)
c.656-583G>A (n.656-583G>A)
c.3559G>A (p.Glu1187Lys)
c.3622G>A (p.Glu1208Lys)
c.3610G>A (p.Glu1204Lys)
2g.144389466C>ACA348698570ZEB2c.*3479G>T (n.*3479G>T)
c.2853G>T (p.Met951Ile)
c.3630G>T (p.Met1210Ile)
c.3518G>T (p.Trp1173Leu)
n.3599G>T
c.3294G>T (p.Met1098Ile)
c.3705G>T (p.Met1235Ile)
c.*3347G>T (n.*3347G>T)
n.3730G>T
c.151+6946G>T (n.151+6946G>T)
c.850G>T (n.850G>T)
c.1161G>T (p.Met387Ile)
c.3627G>T (p.Met1209Ile)
c.656-584G>T (n.656-584G>T)
c.3558G>T (p.Met1186Ile)
c.3621G>T (p.Met1207Ile)
c.3609G>T (p.Met1203Ile)
2g.144389466C>GCA348698571ZEB2c.*3479G>C (n.*3479G>C)
c.2853G>C (p.Met951Ile)
c.3630G>C (p.Met1210Ile)
c.3518G>C (p.Trp1173Ser)
n.3599G>C
c.3294G>C (p.Met1098Ile)
c.3705G>C (p.Met1235Ile)
c.*3347G>C (n.*3347G>C)
n.3730G>C
c.151+6946G>C (n.151+6946G>C)
c.850G>C (n.850G>C)
c.1161G>C (p.Met387Ile)
c.3627G>C (p.Met1209Ile)
c.656-584G>C (n.656-584G>C)
c.3558G>C (p.Met1186Ile)
c.3621G>C (p.Met1207Ile)
c.3609G>C (p.Met1203Ile)
2g.144389466C>TCA348698572ZEB2c.*3479G>A (n.*3479G>A)
c.2853G>A (p.Met951Ile)
c.3630G>A (p.Met1210Ile)
c.3518G>A (p.Trp1173Ter)
n.3599G>A
c.3294G>A (p.Met1098Ile)
c.3705G>A (p.Met1235Ile)
c.*3347G>A (n.*3347G>A)
n.3730G>A
c.151+6946G>A (n.151+6946G>A)
c.850G>A (n.850G>A)
c.1161G>A (p.Met387Ile)
c.3627G>A (p.Met1209Ile)
c.656-584G>A (n.656-584G>A)
c.3558G>A (p.Met1186Ile)
c.3621G>A (p.Met1207Ile)
c.3609G>A (p.Met1203Ile)
2g.144389467A=CA1294881212ZEB2c.*3478T= (n.*3478T=)
c.2852T= (p.Met951=)
c.3629T= (p.Met1210=)
c.3517T= (p.Trp1173=)
n.3598T=
c.3293T= (p.Met1098=)
c.3704T= (p.Met1235=)
c.*3346T= (n.*3346T=)
n.3729T=
c.151+6945T= (n.151+6945T=)
c.849T= (n.849T=)
c.1160T= (p.Met387=)
c.3626T= (p.Met1209=)
c.656-585T= (n.656-585T=)
c.3557T= (p.Met1186=)
c.3620T= (p.Met1207=)
c.3608T= (p.Met1203=)
2g.144389467A>CCA348698573ZEB2c.*3478T>G (n.*3478T>G)
c.2852T>G (p.Met951Arg)
c.3629T>G (p.Met1210Arg)
c.3517T>G (p.Trp1173Gly)
n.3598T>G
c.3293T>G (p.Met1098Arg)
c.3704T>G (p.Met1235Arg)
c.*3346T>G (n.*3346T>G)
n.3729T>G
c.151+6945T>G (n.151+6945T>G)
c.849T>G (n.849T>G)
c.1160T>G (p.Met387Arg)
c.3626T>G (p.Met1209Arg)
c.656-585T>G (n.656-585T>G)
c.3557T>G (p.Met1186Arg)
c.3620T>G (p.Met1207Arg)
c.3608T>G (p.Met1203Arg)
2g.144389467A>GCA348698575ZEB2c.*3478T>C (n.*3478T>C)
c.2852T>C (p.Met951Thr)
c.3629T>C (p.Met1210Thr)
c.3517T>C (p.Trp1173Arg)
n.3598T>C
c.3293T>C (p.Met1098Thr)
c.3704T>C (p.Met1235Thr)
c.*3346T>C (n.*3346T>C)
n.3729T>C
c.151+6945T>C (n.151+6945T>C)
c.849T>C (n.849T>C)
c.1160T>C (p.Met387Thr)
c.3626T>C (p.Met1209Thr)
c.656-585T>C (n.656-585T>C)
c.3557T>C (p.Met1186Thr)
c.3620T>C (p.Met1207Thr)
c.3608T>C (p.Met1203Thr)
 dbSNP gnomAD v4
2g.144389467A>TCA348698574ZEB2c.*3478T>A (n.*3478T>A)
c.2852T>A (p.Met951Lys)
c.3629T>A (p.Met1210Lys)
c.3517T>A (p.Trp1173Arg)
n.3598T>A
c.3293T>A (p.Met1098Lys)
c.3704T>A (p.Met1235Lys)
c.*3346T>A (n.*3346T>A)
n.3729T>A
c.151+6945T>A (n.151+6945T>A)
c.849T>A (n.849T>A)
c.1160T>A (p.Met387Lys)
c.3626T>A (p.Met1209Lys)
c.656-585T>A (n.656-585T>A)
c.3557T>A (p.Met1186Lys)
c.3620T>A (p.Met1207Lys)
c.3608T>A (p.Met1203Lys)
2g.144389468T>ACA348698576ZEB2c.*3477A>T (n.*3477A>T)
c.2851A>T (p.Met951Leu)
c.3628A>T (p.Met1210Leu)
c.3516A>T (p.Ile1172=)
n.3597A>T
c.3292A>T (p.Met1098Leu)
c.3703A>T (p.Met1235Leu)
c.*3345A>T (n.*3345A>T)
n.3728A>T
c.151+6944A>T (n.151+6944A>T)
c.848A>T (n.848A>T)
c.1159A>T (p.Met387Leu)
c.3625A>T (p.Met1209Leu)
c.656-586A>T (n.656-586A>T)
c.3556A>T (p.Met1186Leu)
c.3619A>T (p.Met1207Leu)
c.3607A>T (p.Met1203Leu)
2g.144389468T>CCA1898095ZEB2c.*3477A>G (n.*3477A>G)
c.2851A>G (p.Met951Val)
c.3628A>G (p.Met1210Val)
c.3516A>G (p.Ile1172Met)
n.3597A>G
c.3292A>G (p.Met1098Val)
c.3703A>G (p.Met1235Val)
c.*3345A>G (n.*3345A>G)
n.3728A>G
c.151+6944A>G (n.151+6944A>G)
c.848A>G (n.848A>G)
c.1159A>G (p.Met387Val)
c.3625A>G (p.Met1209Val)
c.656-586A>G (n.656-586A>G)
c.3556A>G (p.Met1186Val)
c.3619A>G (p.Met1207Val)
c.3607A>G (p.Met1203Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.144389468T>GCA348698577ZEB2c.*3477A>C (n.*3477A>C)
c.2851A>C (p.Met951Leu)
c.3628A>C (p.Met1210Leu)
c.3516A>C (p.Ile1172=)
n.3597A>C
c.3292A>C (p.Met1098Leu)
c.3703A>C (p.Met1235Leu)
c.*3345A>C (n.*3345A>C)
n.3728A>C
c.151+6944A>C (n.151+6944A>C)
c.848A>C (n.848A>C)
c.1159A>C (p.Met387Leu)
c.3625A>C (p.Met1209Leu)
c.656-586A>C (n.656-586A>C)
c.3556A>C (p.Met1186Leu)
c.3619A>C (p.Met1207Leu)
c.3607A>C (p.Met1203Leu)
2g.144389468T=CA1294881213ZEB2c.*3477A= (n.*3477A=)
c.2851A= (p.Met951=)
c.3628A= (p.Met1210=)
c.3516A= (p.Ile1172=)
n.3597A=
c.3292A= (p.Met1098=)
c.3703A= (p.Met1235=)
c.*3345A= (n.*3345A=)
n.3728A=
c.151+6944A= (n.151+6944A=)
c.848A= (n.848A=)
c.1159A= (p.Met387=)
c.3625A= (p.Met1209=)
c.656-586A= (n.656-586A=)
c.3556A= (p.Met1186=)
c.3619A= (p.Met1207=)
c.3607A= (p.Met1203=)
2g.144389469A=CA1294881214ZEB2c.*3476T= (n.*3476T=)
c.2850T= (p.Asn950=)
c.3627T= (p.Asn1209=)
c.3515T= (p.Ile1172=)
n.3596T=
c.3291T= (p.Asn1097=)
c.3702T= (p.Asn1234=)
c.*3344T= (n.*3344T=)
n.3727T=
c.151+6943T= (n.151+6943T=)
c.847T= (n.847T=)
c.1158T= (p.Asn386=)
c.3624T= (p.Asn1208=)
c.656-587T= (n.656-587T=)
c.3555T= (p.Asn1185=)
c.3618T= (p.Asn1206=)
c.3606T= (p.Asn1202=)
2g.144389469A>CCA348698578ZEB2c.*3476T>G (n.*3476T>G)
c.2850T>G (p.Asn950Lys)
c.3627T>G (p.Asn1209Lys)
c.3515T>G (p.Ile1172Arg)
n.3596T>G
c.3291T>G (p.Asn1097Lys)
c.3702T>G (p.Asn1234Lys)
c.*3344T>G (n.*3344T>G)
n.3727T>G
c.151+6943T>G (n.151+6943T>G)
c.847T>G (n.847T>G)
c.1158T>G (p.Asn386Lys)
c.3624T>G (p.Asn1208Lys)
c.656-587T>G (n.656-587T>G)
c.3555T>G (p.Asn1185Lys)
c.3618T>G (p.Asn1206Lys)
c.3606T>G (p.Asn1202Lys)
2g.144389469A>GCA1898096ZEB2c.*3476T>C (n.*3476T>C)
c.2850T>C (p.Asn950=)
c.3627T>C (p.Asn1209=)
c.3515T>C (p.Ile1172Thr)
n.3596T>C
c.3291T>C (p.Asn1097=)
c.3702T>C (p.Asn1234=)
c.*3344T>C (n.*3344T>C)
n.3727T>C
c.151+6943T>C (n.151+6943T>C)
c.847T>C (n.847T>C)
c.1158T>C (p.Asn386=)
c.3624T>C (p.Asn1208=)
c.656-587T>C (n.656-587T>C)
c.3555T>C (p.Asn1185=)
c.3618T>C (p.Asn1206=)
c.3606T>C (p.Asn1202=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.144389469A>TCA348698579ZEB2c.*3476T>A (n.*3476T>A)
c.2850T>A (p.Asn950Lys)
c.3627T>A (p.Asn1209Lys)
c.3515T>A (p.Ile1172Lys)
n.3596T>A
c.3291T>A (p.Asn1097Lys)
c.3702T>A (p.Asn1234Lys)
c.*3344T>A (n.*3344T>A)
n.3727T>A
c.151+6943T>A (n.151+6943T>A)
c.847T>A (n.847T>A)
c.1158T>A (p.Asn386Lys)
c.3624T>A (p.Asn1208Lys)
c.656-587T>A (n.656-587T>A)
c.3555T>A (p.Asn1185Lys)
c.3618T>A (p.Asn1206Lys)
c.3606T>A (p.Asn1202Lys)
2g.144389470T>ACA348698580ZEB2c.*3475A>T (n.*3475A>T)
c.2849A>T (p.Asn950Ile)
c.3626A>T (p.Asn1209Ile)
c.3514A>T (p.Ile1172Leu)
n.3595A>T
c.3290A>T (p.Asn1097Ile)
c.3701A>T (p.Asn1234Ile)
c.*3343A>T (n.*3343A>T)
n.3726A>T
c.151+6942A>T (n.151+6942A>T)
c.846A>T (n.846A>T)
c.1157A>T (p.Asn386Ile)
c.3623A>T (p.Asn1208Ile)
c.656-588A>T (n.656-588A>T)
c.3554A>T (p.Asn1185Ile)
c.3617A>T (p.Asn1206Ile)
c.3605A>T (p.Asn1202Ile)
2g.144389470T>CCA348698581ZEB2c.*3475A>G (n.*3475A>G)
c.2849A>G (p.Asn950Ser)
c.3626A>G (p.Asn1209Ser)
c.3514A>G (p.Ile1172Val)
n.3595A>G
c.3290A>G (p.Asn1097Ser)
c.3701A>G (p.Asn1234Ser)
c.*3343A>G (n.*3343A>G)
n.3726A>G
c.151+6942A>G (n.151+6942A>G)
c.846A>G (n.846A>G)
c.1157A>G (p.Asn386Ser)
c.3623A>G (p.Asn1208Ser)
c.656-588A>G (n.656-588A>G)
c.3554A>G (p.Asn1185Ser)
c.3617A>G (p.Asn1206Ser)
c.3605A>G (p.Asn1202Ser)
 dbSNP gnomAD v2 gnomAD v4
2g.144389470T>GCA348698582ZEB2c.*3475A>C (n.*3475A>C)
c.2849A>C (p.Asn950Thr)
c.3626A>C (p.Asn1209Thr)
c.3514A>C (p.Ile1172Leu)
n.3595A>C
c.3290A>C (p.Asn1097Thr)
c.3701A>C (p.Asn1234Thr)
c.*3343A>C (n.*3343A>C)
n.3726A>C
c.151+6942A>C (n.151+6942A>C)
c.846A>C (n.846A>C)
c.1157A>C (p.Asn386Thr)
c.3623A>C (p.Asn1208Thr)
c.656-588A>C (n.656-588A>C)
c.3554A>C (p.Asn1185Thr)
c.3617A>C (p.Asn1206Thr)
c.3605A>C (p.Asn1202Thr)
2g.144389470T=CA1294881215ZEB2c.*3475A= (n.*3475A=)
c.2849A= (p.Asn950=)
c.3626A= (p.Asn1209=)
c.3514A= (p.Ile1172=)
n.3595A=
c.3290A= (p.Asn1097=)
c.3701A= (p.Asn1234=)
c.*3343A= (n.*3343A=)
n.3726A=
c.151+6942A= (n.151+6942A=)
c.846A= (n.846A=)
c.1157A= (p.Asn386=)
c.3623A= (p.Asn1208=)
c.656-588A= (n.656-588A=)
c.3554A= (p.Asn1185=)
c.3617A= (p.Asn1206=)
c.3605A= (p.Asn1202=)
2g.144389471T>ACA348698583ZEB2c.*3474A>T (n.*3474A>T)
c.2848A>T (p.Asn950Tyr)
c.3625A>T (p.Asn1209Tyr)
c.3513A>T (p.Thr1171=)
n.3594A>T
c.3289A>T (p.Asn1097Tyr)
c.3700A>T (p.Asn1234Tyr)
c.*3342A>T (n.*3342A>T)
n.3725A>T
c.151+6941A>T (n.151+6941A>T)
c.845A>T (n.845A>T)
c.1156A>T (p.Asn386Tyr)
c.3622A>T (p.Asn1208Tyr)
c.656-589A>T (n.656-589A>T)
c.3553A>T (p.Asn1185Tyr)
c.3616A>T (p.Asn1206Tyr)
c.3604A>T (p.Asn1202Tyr)
2g.144389471T>CCA348698584ZEB2c.*3474A>G (n.*3474A>G)
c.2848A>G (p.Asn950Asp)
c.3625A>G (p.Asn1209Asp)
c.3513A>G (p.Thr1171=)
n.3594A>G
c.3289A>G (p.Asn1097Asp)
c.3700A>G (p.Asn1234Asp)
c.*3342A>G (n.*3342A>G)
n.3725A>G
c.151+6941A>G (n.151+6941A>G)
c.845A>G (n.845A>G)
c.1156A>G (p.Asn386Asp)
c.3622A>G (p.Asn1208Asp)
c.656-589A>G (n.656-589A>G)
c.3553A>G (p.Asn1185Asp)
c.3616A>G (p.Asn1206Asp)
c.3604A>G (p.Asn1202Asp)
 ClinVar dbSNP
2g.144389471T>GCA348698585ZEB2c.*3474A>C (n.*3474A>C)
c.2848A>C (p.Asn950His)
c.3625A>C (p.Asn1209His)
c.3513A>C (p.Thr1171=)
n.3594A>C
c.3289A>C (p.Asn1097His)
c.3700A>C (p.Asn1234His)
c.*3342A>C (n.*3342A>C)
n.3725A>C
c.151+6941A>C (n.151+6941A>C)
c.845A>C (n.845A>C)
c.1156A>C (p.Asn386His)
c.3622A>C (p.Asn1208His)
c.656-589A>C (n.656-589A>C)
c.3553A>C (p.Asn1185His)
c.3616A>C (p.Asn1206His)
c.3604A>C (p.Asn1202His)
2g.144389471T=CA1294881216ZEB2c.*3474A= (n.*3474A=)
c.2848A= (p.Asn950=)
c.3625A= (p.Asn1209=)
c.3513A= (p.Thr1171=)
n.3594A=
c.3289A= (p.Asn1097=)
c.3700A= (p.Asn1234=)
c.*3342A= (n.*3342A=)
n.3725A=
c.151+6941A= (n.151+6941A=)
c.845A= (n.845A=)
c.1156A= (p.Asn386=)
c.3622A= (p.Asn1208=)
c.656-589A= (n.656-589A=)
c.3553A= (p.Asn1185=)
c.3616A= (p.Asn1206=)
c.3604A= (p.Asn1202=)
2g.144389472G>ACA429217448ZEB2c.*3473C>T (n.*3473C>T)
c.2847C>T (p.Asp949=)
c.3624C>T (p.Asp1208=)
c.3512C>T (p.Thr1171Ile)
n.3593C>T
c.3288C>T (p.Asp1096=)
c.3699C>T (p.Asp1233=)
c.*3341C>T (n.*3341C>T)
n.3724C>T
c.151+6940C>T (n.151+6940C>T)
c.844C>T (n.844C>T)
c.1155C>T (p.Asp385=)
c.3621C>T (p.Asp1207=)
c.656-590C>T (n.656-590C>T)
c.3552C>T (p.Asp1184=)
c.3615C>T (p.Asp1205=)
c.3603C>T (p.Asp1201=)
2g.144389472G>CCA348698587ZEB2c.*3473C>G (n.*3473C>G)
c.2847C>G (p.Asp949Glu)
c.3624C>G (p.Asp1208Glu)
c.3512C>G (p.Thr1171Arg)
n.3593C>G
c.3288C>G (p.Asp1096Glu)
c.3699C>G (p.Asp1233Glu)
c.*3341C>G (n.*3341C>G)
n.3724C>G
c.151+6940C>G (n.151+6940C>G)
c.844C>G (n.844C>G)
c.1155C>G (p.Asp385Glu)
c.3621C>G (p.Asp1207Glu)
c.656-590C>G (n.656-590C>G)
c.3552C>G (p.Asp1184Glu)
c.3615C>G (p.Asp1205Glu)
c.3603C>G (p.Asp1201Glu)
2g.144389472G>TCA348698586ZEB2c.*3473C>A (n.*3473C>A)
c.2847C>A (p.Asp949Glu)
c.3624C>A (p.Asp1208Glu)
c.3512C>A (p.Thr1171Lys)
n.3593C>A
c.3288C>A (p.Asp1096Glu)
c.3699C>A (p.Asp1233Glu)
c.*3341C>A (n.*3341C>A)
n.3724C>A
c.151+6940C>A (n.151+6940C>A)
c.844C>A (n.844C>A)
c.1155C>A (p.Asp385Glu)
c.3621C>A (p.Asp1207Glu)
c.656-590C>A (n.656-590C>A)
c.3552C>A (p.Asp1184Glu)
c.3615C>A (p.Asp1205Glu)
c.3603C>A (p.Asp1201Glu)
2g.144389473T>ACA348698588ZEB2c.*3472A>T (n.*3472A>T)
c.2846A>T (p.Asp949Val)
c.3623A>T (p.Asp1208Val)
c.3511A>T (p.Thr1171Ser)
n.3592A>T
c.3287A>T (p.Asp1096Val)
c.3698A>T (p.Asp1233Val)
c.*3340A>T (n.*3340A>T)
n.3723A>T
c.151+6939A>T (n.151+6939A>T)
c.843A>T (n.843A>T)
c.1154A>T (p.Asp385Val)
c.3620A>T (p.Asp1207Val)
c.656-591A>T (n.656-591A>T)
c.3551A>T (p.Asp1184Val)
c.3614A>T (p.Asp1205Val)
c.3602A>T (p.Asp1201Val)
2g.144389473T>CCA348698589ZEB2c.*3472A>G (n.*3472A>G)
c.2846A>G (p.Asp949Gly)
c.3623A>G (p.Asp1208Gly)
c.3511A>G (p.Thr1171Ala)
n.3592A>G
c.3287A>G (p.Asp1096Gly)
c.3698A>G (p.Asp1233Gly)
c.*3340A>G (n.*3340A>G)
n.3723A>G
c.151+6939A>G (n.151+6939A>G)
c.843A>G (n.843A>G)
c.1154A>G (p.Asp385Gly)
c.3620A>G (p.Asp1207Gly)
c.656-591A>G (n.656-591A>G)
c.3551A>G (p.Asp1184Gly)
c.3614A>G (p.Asp1205Gly)
c.3602A>G (p.Asp1201Gly)
2g.144389473T>GCA348698590ZEB2c.*3472A>C (n.*3472A>C)
c.2846A>C (p.Asp949Ala)
c.3623A>C (p.Asp1208Ala)
c.3511A>C (p.Thr1171Pro)
n.3592A>C
c.3287A>C (p.Asp1096Ala)
c.3698A>C (p.Asp1233Ala)
c.*3340A>C (n.*3340A>C)
n.3723A>C
c.151+6939A>C (n.151+6939A>C)
c.843A>C (n.843A>C)
c.1154A>C (p.Asp385Ala)
c.3620A>C (p.Asp1207Ala)
c.656-591A>C (n.656-591A>C)
c.3551A>C (p.Asp1184Ala)
c.3614A>C (p.Asp1205Ala)
c.3602A>C (p.Asp1201Ala)
2g.144389474C>ACA348698591ZEB2c.*3471G>T (n.*3471G>T)
c.2845G>T (p.Asp949Tyr)
c.3622G>T (p.Asp1208Tyr)
c.3510G>T (p.Lys1170Asn)
n.3591G>T
c.3286G>T (p.Asp1096Tyr)
c.3697G>T (p.Asp1233Tyr)
c.*3339G>T (n.*3339G>T)
n.3722G>T
c.151+6938G>T (n.151+6938G>T)
c.842G>T (n.842G>T)
c.1153G>T (p.Asp385Tyr)
c.3619G>T (p.Asp1207Tyr)
c.656-592G>T (n.656-592G>T)
c.3550G>T (p.Asp1184Tyr)
c.3613G>T (p.Asp1205Tyr)
c.3601G>T (p.Asp1201Tyr)
2g.144389474C>GCA348698592ZEB2c.*3471G>C (n.*3471G>C)
c.2845G>C (p.Asp949His)
c.3622G>C (p.Asp1208His)
c.3510G>C (p.Lys1170Asn)
n.3591G>C
c.3286G>C (p.Asp1096His)
c.3697G>C (p.Asp1233His)
c.*3339G>C (n.*3339G>C)
n.3722G>C
c.151+6938G>C (n.151+6938G>C)
c.842G>C (n.842G>C)
c.1153G>C (p.Asp385His)
c.3619G>C (p.Asp1207His)
c.656-592G>C (n.656-592G>C)
c.3550G>C (p.Asp1184His)
c.3613G>C (p.Asp1205His)
c.3601G>C (p.Asp1201His)
2g.144389474C>TCA348698593ZEB2c.*3471G>A (n.*3471G>A)
c.2845G>A (p.Asp949Asn)
c.3622G>A (p.Asp1208Asn)
c.3510G>A (p.Lys1170=)
n.3591G>A
c.3286G>A (p.Asp1096Asn)
c.3697G>A (p.Asp1233Asn)
c.*3339G>A (n.*3339G>A)
n.3722G>A
c.151+6938G>A (n.151+6938G>A)
c.842G>A (n.842G>A)
c.1153G>A (p.Asp385Asn)
c.3619G>A (p.Asp1207Asn)
c.656-592G>A (n.656-592G>A)
c.3550G>A (p.Asp1184Asn)
c.3613G>A (p.Asp1205Asn)
c.3601G>A (p.Asp1201Asn)
 gnomAD v4
2g.144389475T>ACA348698594ZEB2c.*3470A>T (n.*3470A>T)
c.2844A>T (p.Glu948Asp)
c.3621A>T (p.Glu1207Asp)
c.3509A>T (p.Lys1170Met)
n.3590A>T
c.3285A>T (p.Glu1095Asp)
c.3696A>T (p.Glu1232Asp)
c.*3338A>T (n.*3338A>T)
n.3721A>T
c.151+6937A>T (n.151+6937A>T)
c.841A>T (n.841A>T)
c.1152A>T (p.Glu384Asp)
c.3618A>T (p.Glu1206Asp)
c.656-593A>T (n.656-593A>T)
c.3549A>T (p.Glu1183Asp)
c.3612A>T (p.Glu1204Asp)
c.3600A>T (p.Glu1200Asp)
2g.144389475T>CCA429217450ZEB2c.*3470A>G (n.*3470A>G)
c.2844A>G (p.Glu948=)
c.3621A>G (p.Glu1207=)
c.3509A>G (p.Lys1170Arg)
n.3590A>G
c.3285A>G (p.Glu1095=)
c.3696A>G (p.Glu1232=)
c.*3338A>G (n.*3338A>G)
n.3721A>G
c.151+6937A>G (n.151+6937A>G)
c.841A>G (n.841A>G)
c.1152A>G (p.Glu384=)
c.3618A>G (p.Glu1206=)
c.656-593A>G (n.656-593A>G)
c.3549A>G (p.Glu1183=)
c.3612A>G (p.Glu1204=)
c.3600A>G (p.Glu1200=)
2g.144389475T>GCA348698595ZEB2c.*3470A>C (n.*3470A>C)
c.2844A>C (p.Glu948Asp)
c.3621A>C (p.Glu1207Asp)
c.3509A>C (p.Lys1170Thr)
n.3590A>C
c.3285A>C (p.Glu1095Asp)
c.3696A>C (p.Glu1232Asp)
c.*3338A>C (n.*3338A>C)
n.3721A>C
c.151+6937A>C (n.151+6937A>C)
c.841A>C (n.841A>C)
c.1152A>C (p.Glu384Asp)
c.3618A>C (p.Glu1206Asp)
c.656-593A>C (n.656-593A>C)
c.3549A>C (p.Glu1183Asp)
c.3612A>C (p.Glu1204Asp)
c.3600A>C (p.Glu1200Asp)
2g.144389476T>ACA348698596ZEB2c.*3469A>T (n.*3469A>T)
c.2843A>T (p.Glu948Val)
c.3620A>T (p.Glu1207Val)
c.3508A>T (p.Lys1170Ter)
n.3589A>T
c.3284A>T (p.Glu1095Val)
c.3695A>T (p.Glu1232Val)
c.*3337A>T (n.*3337A>T)
n.3720A>T
c.151+6936A>T (n.151+6936A>T)
c.840A>T (n.840A>T)
c.1151A>T (p.Glu384Val)
c.3617A>T (p.Glu1206Val)
c.656-594A>T (n.656-594A>T)
c.3548A>T (p.Glu1183Val)
c.3611A>T (p.Glu1204Val)
c.3599A>T (p.Glu1200Val)
2g.144389476T>CCA348698597ZEB2c.*3469A>G (n.*3469A>G)
c.2843A>G (p.Glu948Gly)
c.3620A>G (p.Glu1207Gly)
c.3508A>G (p.Lys1170Glu)
n.3589A>G
c.3284A>G (p.Glu1095Gly)
c.3695A>G (p.Glu1232Gly)
c.*3337A>G (n.*3337A>G)
n.3720A>G
c.151+6936A>G (n.151+6936A>G)
c.840A>G (n.840A>G)
c.1151A>G (p.Glu384Gly)
c.3617A>G (p.Glu1206Gly)
c.656-594A>G (n.656-594A>G)
c.3548A>G (p.Glu1183Gly)
c.3611A>G (p.Glu1204Gly)
c.3599A>G (p.Glu1200Gly)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.144389476T>GCA348698598ZEB2c.*3469A>C (n.*3469A>C)
c.2843A>C (p.Glu948Ala)
c.3620A>C (p.Glu1207Ala)
c.3508A>C (p.Lys1170Gln)
n.3589A>C
c.3284A>C (p.Glu1095Ala)
c.3695A>C (p.Glu1232Ala)
c.*3337A>C (n.*3337A>C)
n.3720A>C
c.151+6936A>C (n.151+6936A>C)
c.840A>C (n.840A>C)
c.1151A>C (p.Glu384Ala)
c.3617A>C (p.Glu1206Ala)
c.656-594A>C (n.656-594A>C)
c.3548A>C (p.Glu1183Ala)
c.3611A>C (p.Glu1204Ala)
c.3599A>C (p.Glu1200Ala)
2g.144389476T=CA1294881217ZEB2c.*3469A= (n.*3469A=)
c.2843A= (p.Glu948=)
c.3620A= (p.Glu1207=)
c.3508A= (p.Lys1170=)
n.3589A=
c.3284A= (p.Glu1095=)
c.3695A= (p.Glu1232=)
c.*3337A= (n.*3337A=)
n.3720A=
c.151+6936A= (n.151+6936A=)
c.840A= (n.840A=)
c.1151A= (p.Glu384=)
c.3617A= (p.Glu1206=)
c.656-594A= (n.656-594A=)
c.3548A= (p.Glu1183=)
c.3611A= (p.Glu1204=)
c.3599A= (p.Glu1200=)
2g.144389477C>ACA348698601ZEB2c.*3468G>T (n.*3468G>T)
c.2842G>T (p.Glu948Ter)
c.3619G>T (p.Glu1207Ter)
c.3507G>T (p.Arg1169Ser)
n.3588G>T
c.3283G>T (p.Glu1095Ter)
c.3694G>T (p.Glu1232Ter)
c.*3336G>T (n.*3336G>T)
n.3719G>T
c.151+6935G>T (n.151+6935G>T)
c.839G>T (n.839G>T)
c.1150G>T (p.Glu384Ter)
c.3616G>T (p.Glu1206Ter)
c.656-595G>T (n.656-595G>T)
c.3547G>T (p.Glu1183Ter)
c.3610G>T (p.Glu1204Ter)
c.3598G>T (p.Glu1200Ter)
2g.144389477C=CA1294881218ZEB2c.*3468G= (n.*3468G=)
c.2842G= (p.Glu948=)
c.3619G= (p.Glu1207=)
c.3507G= (p.Arg1169=)
n.3588G=
c.3283G= (p.Glu1095=)
c.3694G= (p.Glu1232=)
c.*3336G= (n.*3336G=)
n.3719G=
c.151+6935G= (n.151+6935G=)
c.839G= (n.839G=)
c.1150G= (p.Glu384=)
c.3616G= (p.Glu1206=)
c.656-595G= (n.656-595G=)
c.3547G= (p.Glu1183=)
c.3610G= (p.Glu1204=)
c.3598G= (p.Glu1200=)
2g.144389477C>GCA348698600ZEB2c.*3468G>C (n.*3468G>C)
c.2842G>C (p.Glu948Gln)
c.3619G>C (p.Glu1207Gln)
c.3507G>C (p.Arg1169Ser)
n.3588G>C
c.3283G>C (p.Glu1095Gln)
c.3694G>C (p.Glu1232Gln)
c.*3336G>C (n.*3336G>C)
n.3719G>C
c.151+6935G>C (n.151+6935G>C)
c.839G>C (n.839G>C)
c.1150G>C (p.Glu384Gln)
c.3616G>C (p.Glu1206Gln)
c.656-595G>C (n.656-595G>C)
c.3547G>C (p.Glu1183Gln)
c.3610G>C (p.Glu1204Gln)
c.3598G>C (p.Glu1200Gln)
2g.144389477C>TCA348698599ZEB2c.*3468G>A (n.*3468G>A)
c.2842G>A (p.Glu948Lys)
c.3619G>A (p.Glu1207Lys)
c.3507G>A (p.Arg1169=)
n.3588G>A
c.3283G>A (p.Glu1095Lys)
c.3694G>A (p.Glu1232Lys)
c.*3336G>A (n.*3336G>A)
n.3719G>A
c.151+6935G>A (n.151+6935G>A)
c.839G>A (n.839G>A)
c.1150G>A (p.Glu384Lys)
c.3616G>A (p.Glu1206Lys)
c.656-595G>A (n.656-595G>A)
c.3547G>A (p.Glu1183Lys)
c.3610G>A (p.Glu1204Lys)
c.3598G>A (p.Glu1200Lys)
 dbSNP gnomAD v3 gnomAD v4
2g.144389478C>ACA348698602ZEB2c.*3467G>T (n.*3467G>T)
c.2841G>T (p.Glu947Asp)
c.3618G>T (p.Glu1206Asp)
c.3506G>T (p.Arg1169Met)
n.3587G>T
c.3282G>T (p.Glu1094Asp)
c.3693G>T (p.Glu1231Asp)
c.*3335G>T (n.*3335G>T)
n.3718G>T
c.151+6934G>T (n.151+6934G>T)
c.838G>T (n.838G>T)
c.1149G>T (p.Glu383Asp)
c.3615G>T (p.Glu1205Asp)
c.656-596G>T (n.656-596G>T)
c.3546G>T (p.Glu1182Asp)
c.3609G>T (p.Glu1203Asp)
c.3597G>T (p.Glu1199Asp)
2g.144389478C>GCA348698603ZEB2c.*3467G>C (n.*3467G>C)
c.2841G>C (p.Glu947Asp)
c.3618G>C (p.Glu1206Asp)
c.3506G>C (p.Arg1169Thr)
n.3587G>C
c.3282G>C (p.Glu1094Asp)
c.3693G>C (p.Glu1231Asp)
c.*3335G>C (n.*3335G>C)
n.3718G>C
c.151+6934G>C (n.151+6934G>C)
c.838G>C (n.838G>C)
c.1149G>C (p.Glu383Asp)
c.3615G>C (p.Glu1205Asp)
c.656-596G>C (n.656-596G>C)
c.3546G>C (p.Glu1182Asp)
c.3609G>C (p.Glu1203Asp)
c.3597G>C (p.Glu1199Asp)
2g.144389478C>TCA429217451ZEB2c.*3467G>A (n.*3467G>A)
c.2841G>A (p.Glu947=)
c.3618G>A (p.Glu1206=)
c.3506G>A (p.Arg1169Lys)
n.3587G>A
c.3282G>A (p.Glu1094=)
c.3693G>A (p.Glu1231=)
c.*3335G>A (n.*3335G>A)
n.3718G>A
c.151+6934G>A (n.151+6934G>A)
c.838G>A (n.838G>A)
c.1149G>A (p.Glu383=)
c.3615G>A (p.Glu1205=)
c.656-596G>A (n.656-596G>A)
c.3546G>A (p.Glu1182=)
c.3609G>A (p.Glu1203=)
c.3597G>A (p.Glu1199=)
2g.144389479T>ACA348698604ZEB2c.*3466A>T (n.*3466A>T)
c.2840A>T (p.Glu947Val)
c.3617A>T (p.Glu1206Val)
c.3505A>T (p.Arg1169Trp)
n.3586A>T
c.3281A>T (p.Glu1094Val)
c.3692A>T (p.Glu1231Val)
c.*3334A>T (n.*3334A>T)
n.3717A>T
c.151+6933A>T (n.151+6933A>T)
c.837A>T (n.837A>T)
c.1148A>T (p.Glu383Val)
c.3614A>T (p.Glu1205Val)
c.656-597A>T (n.656-597A>T)
c.3545A>T (p.Glu1182Val)
c.3608A>T (p.Glu1203Val)
c.3596A>T (p.Glu1199Val)
2g.144389479T>CCA348698605ZEB2c.*3466A>G (n.*3466A>G)
c.2840A>G (p.Glu947Gly)
c.3617A>G (p.Glu1206Gly)
c.3505A>G (p.Arg1169Gly)
n.3586A>G
c.3281A>G (p.Glu1094Gly)
c.3692A>G (p.Glu1231Gly)
c.*3334A>G (n.*3334A>G)
n.3717A>G
c.151+6933A>G (n.151+6933A>G)
c.837A>G (n.837A>G)
c.1148A>G (p.Glu383Gly)
c.3614A>G (p.Glu1205Gly)
c.656-597A>G (n.656-597A>G)
c.3545A>G (p.Glu1182Gly)
c.3608A>G (p.Glu1203Gly)
c.3596A>G (p.Glu1199Gly)
2g.144389479T>GCA348698606ZEB2c.*3466A>C (n.*3466A>C)
c.2840A>C (p.Glu947Ala)
c.3617A>C (p.Glu1206Ala)
c.3505A>C (p.Arg1169=)
n.3586A>C
c.3281A>C (p.Glu1094Ala)
c.3692A>C (p.Glu1231Ala)
c.*3334A>C (n.*3334A>C)
n.3717A>C
c.151+6933A>C (n.151+6933A>C)
c.837A>C (n.837A>C)
c.1148A>C (p.Glu383Ala)
c.3614A>C (p.Glu1205Ala)
c.656-597A>C (n.656-597A>C)
c.3545A>C (p.Glu1182Ala)
c.3608A>C (p.Glu1203Ala)
c.3596A>C (p.Glu1199Ala)
2g.144389480C>ACA348698607ZEB2c.*3465G>T (n.*3465G>T)
c.2839G>T (p.Glu947Ter)
c.3616G>T (p.Glu1206Ter)
c.3504G>T (p.Thr1168=)
n.3585G>T
c.3280G>T (p.Glu1094Ter)
c.3691G>T (p.Glu1231Ter)
c.*3333G>T (n.*3333G>T)
n.3716G>T
c.151+6932G>T (n.151+6932G>T)
c.836G>T (n.836G>T)
c.1147G>T (p.Glu383Ter)
c.3613G>T (p.Glu1205Ter)
c.656-598G>T (n.656-598G>T)
c.3544G>T (p.Glu1182Ter)
c.3607G>T (p.Glu1203Ter)
c.3595G>T (p.Glu1199Ter)
2g.144389480C=CA1294881219ZEB2c.*3465G= (n.*3465G=)
c.2839G= (p.Glu947=)
c.3616G= (p.Glu1206=)
c.3504G= (p.Thr1168=)
n.3585G=
c.3280G= (p.Glu1094=)
c.3691G= (p.Glu1231=)
c.*3333G= (n.*3333G=)
n.3716G=
c.151+6932G= (n.151+6932G=)
c.836G= (n.836G=)
c.1147G= (p.Glu383=)
c.3613G= (p.Glu1205=)
c.656-598G= (n.656-598G=)
c.3544G= (p.Glu1182=)
c.3607G= (p.Glu1203=)
c.3595G= (p.Glu1199=)
2g.144389480C>GCA348698608ZEB2c.*3465G>C (n.*3465G>C)
c.2839G>C (p.Glu947Gln)
c.3616G>C (p.Glu1206Gln)
c.3504G>C (p.Thr1168=)
n.3585G>C
c.3280G>C (p.Glu1094Gln)
c.3691G>C (p.Glu1231Gln)
c.*3333G>C (n.*3333G>C)
n.3716G>C
c.151+6932G>C (n.151+6932G>C)
c.836G>C (n.836G>C)
c.1147G>C (p.Glu383Gln)
c.3613G>C (p.Glu1205Gln)
c.656-598G>C (n.656-598G>C)
c.3544G>C (p.Glu1182Gln)
c.3607G>C (p.Glu1203Gln)
c.3595G>C (p.Glu1199Gln)
2g.144389480C>TCA348698609ZEB2c.*3465G>A (n.*3465G>A)
c.2839G>A (p.Glu947Lys)
c.3616G>A (p.Glu1206Lys)
c.3504G>A (p.Thr1168=)
n.3585G>A
c.3280G>A (p.Glu1094Lys)
c.3691G>A (p.Glu1231Lys)
c.*3333G>A (n.*3333G>A)
n.3716G>A
c.151+6932G>A (n.151+6932G>A)
c.836G>A (n.836G>A)
c.1147G>A (p.Glu383Lys)
c.3613G>A (p.Glu1205Lys)
c.656-598G>A (n.656-598G>A)
c.3544G>A (p.Glu1182Lys)
c.3607G>A (p.Glu1203Lys)
c.3595G>A (p.Glu1199Lys)
 dbSNP gnomAD v4
2g.144389481G>ACA429217453ZEB2c.*3464C>T (n.*3464C>T)
c.2838C>T (p.His946=)
c.3615C>T (p.His1205=)
c.3503C>T (p.Thr1168Met)
n.3584C>T
c.3279C>T (p.His1093=)
c.3690C>T (p.His1230=)
c.*3332C>T (n.*3332C>T)
n.3715C>T
c.151+6931C>T (n.151+6931C>T)
c.835C>T (n.835C>T)
c.1146C>T (p.His382=)
c.3612C>T (p.His1204=)
c.656-599C>T (n.656-599C>T)
c.3543C>T (p.His1181=)
c.3606C>T (p.His1202=)
c.3594C>T (p.His1198=)
 dbSNP gnomAD v4
2g.144389481G>CCA348698610ZEB2c.*3464C>G (n.*3464C>G)
c.2838C>G (p.His946Gln)
c.3615C>G (p.His1205Gln)
c.3503C>G (p.Thr1168Arg)
n.3584C>G
c.3279C>G (p.His1093Gln)
c.3690C>G (p.His1230Gln)
c.*3332C>G (n.*3332C>G)
n.3715C>G
c.151+6931C>G (n.151+6931C>G)
c.835C>G (n.835C>G)
c.1146C>G (p.His382Gln)
c.3612C>G (p.His1204Gln)
c.656-599C>G (n.656-599C>G)
c.3543C>G (p.His1181Gln)
c.3606C>G (p.His1202Gln)
c.3594C>G (p.His1198Gln)
2g.144389481G=CA1294881220ZEB2c.*3464C= (n.*3464C=)
c.2838C= (p.His946=)
c.3615C= (p.His1205=)
c.3503C= (p.Thr1168=)
n.3584C=
c.3279C= (p.His1093=)
c.3690C= (p.His1230=)
c.*3332C= (n.*3332C=)
n.3715C=
c.151+6931C= (n.151+6931C=)
c.835C= (n.835C=)
c.1146C= (p.His382=)
c.3612C= (p.His1204=)
c.656-599C= (n.656-599C=)
c.3543C= (p.His1181=)
c.3606C= (p.His1202=)
c.3594C= (p.His1198=)
2g.144389481G>TCA348698611ZEB2c.*3464C>A (n.*3464C>A)
c.2838C>A (p.His946Gln)
c.3615C>A (p.His1205Gln)
c.3503C>A (p.Thr1168Lys)
n.3584C>A
c.3279C>A (p.His1093Gln)
c.3690C>A (p.His1230Gln)
c.*3332C>A (n.*3332C>A)
n.3715C>A
c.151+6931C>A (n.151+6931C>A)
c.835C>A (n.835C>A)
c.1146C>A (p.His382Gln)
c.3612C>A (p.His1204Gln)
c.656-599C>A (n.656-599C>A)
c.3543C>A (p.His1181Gln)
c.3606C>A (p.His1202Gln)
c.3594C>A (p.His1198Gln)
2g.144389482T>ACA348698612ZEB2c.*3463A>T (n.*3463A>T)
c.2837A>T (p.His946Leu)
c.3614A>T (p.His1205Leu)
c.3502A>T (p.Thr1168Ser)
n.3583A>T
c.3278A>T (p.His1093Leu)
c.3689A>T (p.His1230Leu)
c.*3331A>T (n.*3331A>T)
n.3714A>T
c.151+6930A>T (n.151+6930A>T)
c.834A>T (n.834A>T)
c.1145A>T (p.His382Leu)
c.3611A>T (p.His1204Leu)
c.656-600A>T (n.656-600A>T)
c.3542A>T (p.His1181Leu)
c.3605A>T (p.His1202Leu)
c.3593A>T (p.His1198Leu)
2g.144389482T>CCA348698613ZEB2c.*3463A>G (n.*3463A>G)
c.2837A>G (p.His946Arg)
c.3614A>G (p.His1205Arg)
c.3502A>G (p.Thr1168Ala)
n.3583A>G
c.3278A>G (p.His1093Arg)
c.3689A>G (p.His1230Arg)
c.*3331A>G (n.*3331A>G)
n.3714A>G
c.151+6930A>G (n.151+6930A>G)
c.834A>G (n.834A>G)
c.1145A>G (p.His382Arg)
c.3611A>G (p.His1204Arg)
c.656-600A>G (n.656-600A>G)
c.3542A>G (p.His1181Arg)
c.3605A>G (p.His1202Arg)
c.3593A>G (p.His1198Arg)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.144389482T>GCA348698614ZEB2c.*3463A>C (n.*3463A>C)
c.2837A>C (p.His946Pro)
c.3614A>C (p.His1205Pro)
c.3502A>C (p.Thr1168Pro)
n.3583A>C
c.3278A>C (p.His1093Pro)
c.3689A>C (p.His1230Pro)
c.*3331A>C (n.*3331A>C)
n.3714A>C
c.151+6930A>C (n.151+6930A>C)
c.834A>C (n.834A>C)
c.1145A>C (p.His382Pro)
c.3611A>C (p.His1204Pro)
c.656-600A>C (n.656-600A>C)
c.3542A>C (p.His1181Pro)
c.3605A>C (p.His1202Pro)
c.3593A>C (p.His1198Pro)
2g.144389482T=CA1294881221ZEB2c.*3463A= (n.*3463A=)
c.2837A= (p.His946=)
c.3614A= (p.His1205=)
c.3502A= (p.Thr1168=)
n.3583A=
c.3278A= (p.His1093=)
c.3689A= (p.His1230=)
c.*3331A= (n.*3331A=)
n.3714A=
c.151+6930A= (n.151+6930A=)
c.834A= (n.834A=)
c.1145A= (p.His382=)
c.3611A= (p.His1204=)
c.656-600A= (n.656-600A=)
c.3542A= (p.His1181=)
c.3605A= (p.His1202=)
c.3593A= (p.His1198=)
2g.144389484_144389488delCA2586969973ZEB2c.*3459_*3463del (n.*3459_*3463del)
c.2833_2837del (p.Asp945ArgfsTer30)
c.3610_3614del (p.Asp1204ArgfsTer30)
c.3498_3502del (p.Gln1166HisfsTer11)
n.3579_3583del
c.3274_3278del (p.Asp1092ArgfsTer30)
c.3685_3689del (p.Asp1229ArgfsTer30)
c.*3327_*3331del (n.*3327_*3331del)
n.3710_3714del
c.151+6926_151+6930del (n.151+6926_151+6930del)
c.830_834del (n.830_834del)
c.1141_1145del (p.Asp381ArgfsTer30)
c.3607_3611del (p.Asp1203ArgfsTer30)
c.656-604_656-600del (n.656-604_656-600del)
c.3538_3542del (p.Asp1180ArgfsTer30)
c.3601_3605del (p.Asp1201ArgfsTer30)
c.3589_3593del (p.Asp1197ArgfsTer30)
2g.144389483G>ACA348698617ZEB2c.*3462C>T (n.*3462C>T)
c.2836C>T (p.His946Tyr)
c.3613C>T (p.His1205Tyr)
c.3501C>T (p.Thr1167=)
n.3582C>T
c.3277C>T (p.His1093Tyr)
c.3688C>T (p.His1230Tyr)
c.*3330C>T (n.*3330C>T)
n.3713C>T
c.151+6929C>T (n.151+6929C>T)
c.833C>T (n.833C>T)
c.1144C>T (p.His382Tyr)
c.3610C>T (p.His1204Tyr)
c.656-601C>T (n.656-601C>T)
c.3541C>T (p.His1181Tyr)
c.3604C>T (p.His1202Tyr)
c.3592C>T (p.His1198Tyr)
2g.144389483G>CCA348698615ZEB2c.*3462C>G (n.*3462C>G)
c.2836C>G (p.His946Asp)
c.3613C>G (p.His1205Asp)
c.3501C>G (p.Thr1167=)
n.3582C>G
c.3277C>G (p.His1093Asp)
c.3688C>G (p.His1230Asp)
c.*3330C>G (n.*3330C>G)
n.3713C>G
c.151+6929C>G (n.151+6929C>G)
c.833C>G (n.833C>G)
c.1144C>G (p.His382Asp)
c.3610C>G (p.His1204Asp)
c.656-601C>G (n.656-601C>G)
c.3541C>G (p.His1181Asp)
c.3604C>G (p.His1202Asp)
c.3592C>G (p.His1198Asp)
2g.144389483G>TCA348698616ZEB2c.*3462C>A (n.*3462C>A)
c.2836C>A (p.His946Asn)
c.3613C>A (p.His1205Asn)
c.3501C>A (p.Thr1167=)
n.3582C>A
c.3277C>A (p.His1093Asn)
c.3688C>A (p.His1230Asn)
c.*3330C>A (n.*3330C>A)
n.3713C>A
c.151+6929C>A (n.151+6929C>A)
c.833C>A (n.833C>A)
c.1144C>A (p.His382Asn)
c.3610C>A (p.His1204Asn)
c.656-601C>A (n.656-601C>A)
c.3541C>A (p.His1181Asn)
c.3604C>A (p.His1202Asn)
c.3592C>A (p.His1198Asn)
2g.144389484G>ACA429217454ZEB2c.*3461C>T (n.*3461C>T)
c.2835C>T (p.Asp945=)
c.3612C>T (p.Asp1204=)
c.3500C>T (p.Thr1167Ile)
n.3581C>T
c.3276C>T (p.Asp1092=)
c.3687C>T (p.Asp1229=)
c.*3329C>T (n.*3329C>T)
n.3712C>T
c.151+6928C>T (n.151+6928C>T)
c.832C>T (n.832C>T)
c.1143C>T (p.Asp381=)
c.3609C>T (p.Asp1203=)
c.656-602C>T (n.656-602C>T)
c.3540C>T (p.Asp1180=)
c.3603C>T (p.Asp1201=)
c.3591C>T (p.Asp1197=)
 gnomAD v4
2g.144389484G>CCA348698618ZEB2c.*3461C>G (n.*3461C>G)
c.2835C>G (p.Asp945Glu)
c.3612C>G (p.Asp1204Glu)
c.3500C>G (p.Thr1167Ser)
n.3581C>G
c.3276C>G (p.Asp1092Glu)
c.3687C>G (p.Asp1229Glu)
c.*3329C>G (n.*3329C>G)
n.3712C>G
c.151+6928C>G (n.151+6928C>G)
c.832C>G (n.832C>G)
c.1143C>G (p.Asp381Glu)
c.3609C>G (p.Asp1203Glu)
c.656-602C>G (n.656-602C>G)
c.3540C>G (p.Asp1180Glu)
c.3603C>G (p.Asp1201Glu)
c.3591C>G (p.Asp1197Glu)
2g.144389484G=CA1294881222ZEB2c.*3461C= (n.*3461C=)
c.2835C= (p.Asp945=)
c.3612C= (p.Asp1204=)
c.3500C= (p.Thr1167=)
n.3581C=
c.3276C= (p.Asp1092=)
c.3687C= (p.Asp1229=)
c.*3329C= (n.*3329C=)
n.3712C=
c.151+6928C= (n.151+6928C=)
c.832C= (n.832C=)
c.1143C= (p.Asp381=)
c.3609C= (p.Asp1203=)
c.656-602C= (n.656-602C=)
c.3540C= (p.Asp1180=)
c.3603C= (p.Asp1201=)
c.3591C= (p.Asp1197=)
2g.144389484G>TCA348698619ZEB2c.*3461C>A (n.*3461C>A)
c.2835C>A (p.Asp945Glu)
c.3612C>A (p.Asp1204Glu)
c.3500C>A (p.Thr1167Asn)
n.3581C>A
c.3276C>A (p.Asp1092Glu)
c.3687C>A (p.Asp1229Glu)
c.*3329C>A (n.*3329C>A)
n.3712C>A
c.151+6928C>A (n.151+6928C>A)
c.832C>A (n.832C>A)
c.1143C>A (p.Asp381Glu)
c.3609C>A (p.Asp1203Glu)
c.656-602C>A (n.656-602C>A)
c.3540C>A (p.Asp1180Glu)
c.3603C>A (p.Asp1201Glu)
c.3591C>A (p.Asp1197Glu)
 dbSNP gnomAD v2 gnomAD v4
2g.144389485T>ACA348698620ZEB2c.*3460A>T (n.*3460A>T)
c.2834A>T (p.Asp945Val)
c.3611A>T (p.Asp1204Val)
c.3499A>T (p.Thr1167Ser)
n.3580A>T
c.3275A>T (p.Asp1092Val)
c.3686A>T (p.Asp1229Val)
c.*3328A>T (n.*3328A>T)
n.3711A>T
c.151+6927A>T (n.151+6927A>T)
c.831A>T (n.831A>T)
c.1142A>T (p.Asp381Val)
c.3608A>T (p.Asp1203Val)
c.656-603A>T (n.656-603A>T)
c.3539A>T (p.Asp1180Val)
c.3602A>T (p.Asp1201Val)
c.3590A>T (p.Asp1197Val)
 gnomAD v4
2g.144389485T>CCA348698621ZEB2c.*3460A>G (n.*3460A>G)
c.2834A>G (p.Asp945Gly)
c.3611A>G (p.Asp1204Gly)
c.3499A>G (p.Thr1167Ala)
n.3580A>G
c.3275A>G (p.Asp1092Gly)
c.3686A>G (p.Asp1229Gly)
c.*3328A>G (n.*3328A>G)
n.3711A>G
c.151+6927A>G (n.151+6927A>G)
c.831A>G (n.831A>G)
c.1142A>G (p.Asp381Gly)
c.3608A>G (p.Asp1203Gly)
c.656-603A>G (n.656-603A>G)
c.3539A>G (p.Asp1180Gly)
c.3602A>G (p.Asp1201Gly)
c.3590A>G (p.Asp1197Gly)
2g.144389485T>GCA348698622ZEB2c.*3460A>C (n.*3460A>C)
c.2834A>C (p.Asp945Ala)
c.3611A>C (p.Asp1204Ala)
c.3499A>C (p.Thr1167Pro)
n.3580A>C
c.3275A>C (p.Asp1092Ala)
c.3686A>C (p.Asp1229Ala)
c.*3328A>C (n.*3328A>C)
n.3711A>C
c.151+6927A>C (n.151+6927A>C)
c.831A>C (n.831A>C)
c.1142A>C (p.Asp381Ala)
c.3608A>C (p.Asp1203Ala)
c.656-603A>C (n.656-603A>C)
c.3539A>C (p.Asp1180Ala)
c.3602A>C (p.Asp1201Ala)
c.3590A>C (p.Asp1197Ala)
2g.144389486C>ACA348698623ZEB2c.*3459G>T (n.*3459G>T)
c.2833G>T (p.Asp945Tyr)
c.3610G>T (p.Asp1204Tyr)
c.3498G>T (p.Gln1166His)
n.3579G>T
c.3274G>T (p.Asp1092Tyr)
c.3685G>T (p.Asp1229Tyr)
c.*3327G>T (n.*3327G>T)
n.3710G>T
c.151+6926G>T (n.151+6926G>T)
c.830G>T (n.830G>T)
c.1141G>T (p.Asp381Tyr)
c.3607G>T (p.Asp1203Tyr)
c.656-604G>T (n.656-604G>T)
c.3538G>T (p.Asp1180Tyr)
c.3601G>T (p.Asp1201Tyr)
c.3589G>T (p.Asp1197Tyr)
2g.144389486C=CA1294881223ZEB2c.*3459G= (n.*3459G=)
c.2833G= (p.Asp945=)
c.3610G= (p.Asp1204=)
c.3498G= (p.Gln1166=)
n.3579G=
c.3274G= (p.Asp1092=)
c.3685G= (p.Asp1229=)
c.*3327G= (n.*3327G=)
n.3710G=
c.151+6926G= (n.151+6926G=)
c.830G= (n.830G=)
c.1141G= (p.Asp381=)
c.3607G= (p.Asp1203=)
c.656-604G= (n.656-604G=)
c.3538G= (p.Asp1180=)
c.3601G= (p.Asp1201=)
c.3589G= (p.Asp1197=)
2g.144389486C>GCA348698624ZEB2c.*3459G>C (n.*3459G>C)
c.2833G>C (p.Asp945His)
c.3610G>C (p.Asp1204His)
c.3498G>C (p.Gln1166His)
n.3579G>C
c.3274G>C (p.Asp1092His)
c.3685G>C (p.Asp1229His)
c.*3327G>C (n.*3327G>C)
n.3710G>C
c.151+6926G>C (n.151+6926G>C)
c.830G>C (n.830G>C)
c.1141G>C (p.Asp381His)
c.3607G>C (p.Asp1203His)
c.656-604G>C (n.656-604G>C)
c.3538G>C (p.Asp1180His)
c.3601G>C (p.Asp1201His)
c.3589G>C (p.Asp1197His)
2g.144389486C>TCA1898097ZEB2c.*3459G>A (n.*3459G>A)
c.2833G>A (p.Asp945Asn)
c.3610G>A (p.Asp1204Asn)
c.3498G>A (p.Gln1166=)
n.3579G>A
c.3274G>A (p.Asp1092Asn)
c.3685G>A (p.Asp1229Asn)
c.*3327G>A (n.*3327G>A)
n.3710G>A
c.151+6926G>A (n.151+6926G>A)
c.830G>A (n.830G>A)
c.1141G>A (p.Asp381Asn)
c.3607G>A (p.Asp1203Asn)
c.656-604G>A (n.656-604G>A)
c.3538G>A (p.Asp1180Asn)
c.3601G>A (p.Asp1201Asn)
c.3589G>A (p.Asp1197Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.144389487T>ACA429217457ZEB2c.*3458A>T (n.*3458A>T)
c.2832A>T (p.Ser944=)
c.3609A>T (p.Ser1203=)
c.3497A>T (p.Gln1166Leu)
n.3578A>T
c.3273A>T (p.Ser1091=)
c.3684A>T (p.Ser1228=)
c.*3326A>T (n.*3326A>T)
n.3709A>T
c.151+6925A>T (n.151+6925A>T)
c.829A>T (n.829A>T)
c.1140A>T (p.Ser380=)
c.3606A>T (p.Ser1202=)
c.656-605A>T (n.656-605A>T)
c.3537A>T (p.Ser1179=)
c.3600A>T (p.Ser1200=)
c.3588A>T (p.Ser1196=)
2g.144389487T>CCA429217456ZEB2c.*3458A>G (n.*3458A>G)
c.2832A>G (p.Ser944=)
c.3609A>G (p.Ser1203=)
c.3497A>G (p.Gln1166Arg)
n.3578A>G
c.3273A>G (p.Ser1091=)
c.3684A>G (p.Ser1228=)
c.*3326A>G (n.*3326A>G)
n.3709A>G
c.151+6925A>G (n.151+6925A>G)
c.829A>G (n.829A>G)
c.1140A>G (p.Ser380=)
c.3606A>G (p.Ser1202=)
c.656-605A>G (n.656-605A>G)
c.3537A>G (p.Ser1179=)
c.3600A>G (p.Ser1200=)
c.3588A>G (p.Ser1196=)
2g.144389487T>GCA429217455ZEB2c.*3458A>C (n.*3458A>C)
c.2832A>C (p.Ser944=)
c.3609A>C (p.Ser1203=)
c.3497A>C (p.Gln1166Pro)
n.3578A>C
c.3273A>C (p.Ser1091=)
c.3684A>C (p.Ser1228=)
c.*3326A>C (n.*3326A>C)
n.3709A>C
c.151+6925A>C (n.151+6925A>C)
c.829A>C (n.829A>C)
c.1140A>C (p.Ser380=)
c.3606A>C (p.Ser1202=)
c.656-605A>C (n.656-605A>C)
c.3537A>C (p.Ser1179=)
c.3600A>C (p.Ser1200=)
c.3588A>C (p.Ser1196=)
2g.144389488G>ACA1898098ZEB2c.*3457C>T (n.*3457C>T)
c.2831C>T (p.Ser944Leu)
c.3608C>T (p.Ser1203Leu)
c.3496C>T (p.Gln1166Ter)
n.3577C>T
c.3272C>T (p.Ser1091Leu)
c.3683C>T (p.Ser1228Leu)
c.*3325C>T (n.*3325C>T)
n.3708C>T
c.151+6924C>T (n.151+6924C>T)
c.828C>T (n.828C>T)
c.1139C>T (p.Ser380Leu)
c.3605C>T (p.Ser1202Leu)
c.656-606C>T (n.656-606C>T)
c.3536C>T (p.Ser1179Leu)
c.3599C>T (p.Ser1200Leu)
c.3587C>T (p.Ser1196Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.144389488G>CCA348698625ZEB2c.*3457C>G (n.*3457C>G)
c.2831C>G (p.Ser944Ter)
c.3608C>G (p.Ser1203Ter)
c.3496C>G (p.Gln1166Glu)
n.3577C>G
c.3272C>G (p.Ser1091Ter)
c.3683C>G (p.Ser1228Ter)
c.*3325C>G (n.*3325C>G)
n.3708C>G
c.151+6924C>G (n.151+6924C>G)
c.828C>G (n.828C>G)
c.1139C>G (p.Ser380Ter)
c.3605C>G (p.Ser1202Ter)
c.656-606C>G (n.656-606C>G)
c.3536C>G (p.Ser1179Ter)
c.3599C>G (p.Ser1200Ter)
c.3587C>G (p.Ser1196Ter)
2g.144389488G=CA1294881224ZEB2c.*3457C= (n.*3457C=)
c.2831C= (p.Ser944=)
c.3608C= (p.Ser1203=)
c.3496C= (p.Gln1166=)
n.3577C=
c.3272C= (p.Ser1091=)
c.3683C= (p.Ser1228=)
c.*3325C= (n.*3325C=)
n.3708C=
c.151+6924C= (n.151+6924C=)
c.828C= (n.828C=)
c.1139C= (p.Ser380=)
c.3605C= (p.Ser1202=)
c.656-606C= (n.656-606C=)
c.3536C= (p.Ser1179=)
c.3599C= (p.Ser1200=)
c.3587C= (p.Ser1196=)
2g.144389488G>TCA348698626ZEB2c.*3457C>A (n.*3457C>A)
c.2831C>A (p.Ser944Ter)
c.3608C>A (p.Ser1203Ter)
c.3496C>A (p.Gln1166Lys)
n.3577C>A
c.3272C>A (p.Ser1091Ter)
c.3683C>A (p.Ser1228Ter)
c.*3325C>A (n.*3325C>A)
n.3708C>A
c.151+6924C>A (n.151+6924C>A)
c.828C>A (n.828C>A)
c.1139C>A (p.Ser380Ter)
c.3605C>A (p.Ser1202Ter)
c.656-606C>A (n.656-606C>A)
c.3536C>A (p.Ser1179Ter)
c.3599C>A (p.Ser1200Ter)
c.3587C>A (p.Ser1196Ter)
 gnomAD v4
2g.144389489A>CCA348698628ZEB2c.*3456T>G (n.*3456T>G)
c.2830T>G (p.Ser944Ala)
c.3607T>G (p.Ser1203Ala)
c.3495T>G (p.Asn1165Lys)
n.3576T>G
c.3271T>G (p.Ser1091Ala)
c.3682T>G (p.Ser1228Ala)
c.*3324T>G (n.*3324T>G)
n.3707T>G
c.151+6923T>G (n.151+6923T>G)
c.827T>G (n.827T>G)
c.1138T>G (p.Ser380Ala)
c.3604T>G (p.Ser1202Ala)
c.656-607T>G (n.656-607T>G)
c.3535T>G (p.Ser1179Ala)
c.3598T>G (p.Ser1200Ala)
c.3586T>G (p.Ser1196Ala)
2g.144389489A>GCA348698629ZEB2c.*3456T>C (n.*3456T>C)
c.2830T>C (p.Ser944Pro)
c.3607T>C (p.Ser1203Pro)
c.3495T>C (p.Asn1165=)
n.3576T>C
c.3271T>C (p.Ser1091Pro)
c.3682T>C (p.Ser1228Pro)
c.*3324T>C (n.*3324T>C)
n.3707T>C
c.151+6923T>C (n.151+6923T>C)
c.827T>C (n.827T>C)
c.1138T>C (p.Ser380Pro)
c.3604T>C (p.Ser1202Pro)
c.656-607T>C (n.656-607T>C)
c.3535T>C (p.Ser1179Pro)
c.3598T>C (p.Ser1200Pro)
c.3586T>C (p.Ser1196Pro)
2g.144389489A>TCA348698627ZEB2c.*3456T>A (n.*3456T>A)
c.2830T>A (p.Ser944Thr)
c.3607T>A (p.Ser1203Thr)
c.3495T>A (p.Asn1165Lys)
n.3576T>A
c.3271T>A (p.Ser1091Thr)
c.3682T>A (p.Ser1228Thr)
c.*3324T>A (n.*3324T>A)
n.3707T>A
c.151+6923T>A (n.151+6923T>A)
c.827T>A (n.827T>A)
c.1138T>A (p.Ser380Thr)
c.3604T>A (p.Ser1202Thr)
c.656-607T>A (n.656-607T>A)
c.3535T>A (p.Ser1179Thr)
c.3598T>A (p.Ser1200Thr)
c.3586T>A (p.Ser1196Thr)
2g.144389490T>ACA348698630ZEB2c.*3455A>T (n.*3455A>T)
c.2829A>T (p.Lys943Asn)
c.3606A>T (p.Lys1202Asn)
c.3494A>T (p.Asn1165Ile)
n.3575A>T
c.3270A>T (p.Lys1090Asn)
c.3681A>T (p.Lys1227Asn)
c.*3323A>T (n.*3323A>T)
n.3706A>T
c.151+6922A>T (n.151+6922A>T)
c.826A>T (n.826A>T)
c.1137A>T (p.Lys379Asn)
c.3603A>T (p.Lys1201Asn)
c.656-608A>T (n.656-608A>T)
c.3534A>T (p.Lys1178Asn)
c.3597A>T (p.Lys1199Asn)
c.3585A>T (p.Lys1195Asn)
2g.144389490T>CCA429217458ZEB2c.*3455A>G (n.*3455A>G)
c.2829A>G (p.Lys943=)
c.3606A>G (p.Lys1202=)
c.3494A>G (p.Asn1165Ser)
n.3575A>G
c.3270A>G (p.Lys1090=)
c.3681A>G (p.Lys1227=)
c.*3323A>G (n.*3323A>G)
n.3706A>G
c.151+6922A>G (n.151+6922A>G)
c.826A>G (n.826A>G)
c.1137A>G (p.Lys379=)
c.3603A>G (p.Lys1201=)
c.656-608A>G (n.656-608A>G)
c.3534A>G (p.Lys1178=)
c.3597A>G (p.Lys1199=)
c.3585A>G (p.Lys1195=)
2g.144389490T>GCA348698631ZEB2c.*3455A>C (n.*3455A>C)
c.2829A>C (p.Lys943Asn)
c.3606A>C (p.Lys1202Asn)
c.3494A>C (p.Asn1165Thr)
n.3575A>C
c.3270A>C (p.Lys1090Asn)
c.3681A>C (p.Lys1227Asn)
c.*3323A>C (n.*3323A>C)
n.3706A>C
c.151+6922A>C (n.151+6922A>C)
c.826A>C (n.826A>C)
c.1137A>C (p.Lys379Asn)
c.3603A>C (p.Lys1201Asn)
c.656-608A>C (n.656-608A>C)
c.3534A>C (p.Lys1178Asn)
c.3597A>C (p.Lys1199Asn)
c.3585A>C (p.Lys1195Asn)
2g.144389491T>ACA348698632ZEB2c.*3454A>T (n.*3454A>T)
c.2828A>T (p.Lys943Ile)
c.3605A>T (p.Lys1202Ile)
c.3493A>T (p.Asn1165Tyr)
n.3574A>T
c.3269A>T (p.Lys1090Ile)
c.3680A>T (p.Lys1227Ile)
c.*3322A>T (n.*3322A>T)
n.3705A>T
c.151+6921A>T (n.151+6921A>T)
c.825A>T (n.825A>T)
c.1136A>T (p.Lys379Ile)
c.3602A>T (p.Lys1201Ile)
c.656-609A>T (n.656-609A>T)
c.3533A>T (p.Lys1178Ile)
c.3596A>T (p.Lys1199Ile)
c.3584A>T (p.Lys1195Ile)
2g.144389491T>CCA348698633ZEB2c.*3454A>G (n.*3454A>G)
c.2828A>G (p.Lys943Arg)
c.3605A>G (p.Lys1202Arg)
c.3493A>G (p.Asn1165Asp)
n.3574A>G
c.3269A>G (p.Lys1090Arg)
c.3680A>G (p.Lys1227Arg)
c.*3322A>G (n.*3322A>G)
n.3705A>G
c.151+6921A>G (n.151+6921A>G)
c.825A>G (n.825A>G)
c.1136A>G (p.Lys379Arg)
c.3602A>G (p.Lys1201Arg)
c.656-609A>G (n.656-609A>G)
c.3533A>G (p.Lys1178Arg)
c.3596A>G (p.Lys1199Arg)
c.3584A>G (p.Lys1195Arg)
2g.144389491T>GCA348698634ZEB2c.*3454A>C (n.*3454A>C)
c.2828A>C (p.Lys943Thr)
c.3605A>C (p.Lys1202Thr)
c.3493A>C (p.Asn1165His)
n.3574A>C
c.3269A>C (p.Lys1090Thr)
c.3680A>C (p.Lys1227Thr)
c.*3322A>C (n.*3322A>C)
n.3705A>C
c.151+6921A>C (n.151+6921A>C)
c.825A>C (n.825A>C)
c.1136A>C (p.Lys379Thr)
c.3602A>C (p.Lys1201Thr)
c.656-609A>C (n.656-609A>C)
c.3533A>C (p.Lys1178Thr)
c.3596A>C (p.Lys1199Thr)
c.3584A>C (p.Lys1195Thr)
2g.144389492T>ACA348698635ZEB2c.*3453A>T (n.*3453A>T)
c.2827A>T (p.Lys943Ter)
c.3604A>T (p.Lys1202Ter)
c.3492A>T (p.Pro1164=)
n.3573A>T
c.3268A>T (p.Lys1090Ter)
c.3679A>T (p.Lys1227Ter)
c.*3321A>T (n.*3321A>T)
n.3704A>T
c.151+6920A>T (n.151+6920A>T)
c.824A>T (n.824A>T)
c.1135A>T (p.Lys379Ter)
c.3601A>T (p.Lys1201Ter)
c.656-610A>T (n.656-610A>T)
c.3532A>T (p.Lys1178Ter)
c.3595A>T (p.Lys1199Ter)
c.3583A>T (p.Lys1195Ter)
2g.144389492T>CCA348698636ZEB2c.*3453A>G (n.*3453A>G)
c.2827A>G (p.Lys943Glu)
c.3604A>G (p.Lys1202Glu)
c.3492A>G (p.Pro1164=)
n.3573A>G
c.3268A>G (p.Lys1090Glu)
c.3679A>G (p.Lys1227Glu)
c.*3321A>G (n.*3321A>G)
n.3704A>G
c.151+6920A>G (n.151+6920A>G)
c.824A>G (n.824A>G)
c.1135A>G (p.Lys379Glu)
c.3601A>G (p.Lys1201Glu)
c.656-610A>G (n.656-610A>G)
c.3532A>G (p.Lys1178Glu)
c.3595A>G (p.Lys1199Glu)
c.3583A>G (p.Lys1195Glu)
2g.144389492T>GCA348698637ZEB2c.*3453A>C (n.*3453A>C)
c.2827A>C (p.Lys943Gln)
c.3604A>C (p.Lys1202Gln)
c.3492A>C (p.Pro1164=)
n.3573A>C
c.3268A>C (p.Lys1090Gln)
c.3679A>C (p.Lys1227Gln)
c.*3321A>C (n.*3321A>C)
n.3704A>C
c.151+6920A>C (n.151+6920A>C)
c.824A>C (n.824A>C)
c.1135A>C (p.Lys379Gln)
c.3601A>C (p.Lys1201Gln)
c.656-610A>C (n.656-610A>C)
c.3532A>C (p.Lys1178Gln)
c.3595A>C (p.Lys1199Gln)
c.3583A>C (p.Lys1195Gln)
2g.144389493G>ACA429217460ZEB2c.*3452C>T (n.*3452C>T)
c.2826C>T (p.Thr942=)
c.3603C>T (p.Thr1201=)
c.3491C>T (p.Pro1164Leu)
n.3572C>T
c.3267C>T (p.Thr1089=)
c.3678C>T (p.Thr1226=)
c.*3320C>T (n.*3320C>T)
n.3703C>T
c.151+6919C>T (n.151+6919C>T)
c.823C>T (n.823C>T)
c.1134C>T (p.Thr378=)
c.3600C>T (p.Thr1200=)
c.656-611C>T (n.656-611C>T)
c.3531C>T (p.Thr1177=)
c.3594C>T (p.Thr1198=)
c.3582C>T (p.Thr1194=)
2g.144389493G>CCA429217461ZEB2c.*3452C>G (n.*3452C>G)
c.2826C>G (p.Thr942=)
c.3603C>G (p.Thr1201=)
c.3491C>G (p.Pro1164Arg)
n.3572C>G
c.3267C>G (p.Thr1089=)
c.3678C>G (p.Thr1226=)
c.*3320C>G (n.*3320C>G)
n.3703C>G
c.151+6919C>G (n.151+6919C>G)
c.823C>G (n.823C>G)
c.1134C>G (p.Thr378=)
c.3600C>G (p.Thr1200=)
c.656-611C>G (n.656-611C>G)
c.3531C>G (p.Thr1177=)
c.3594C>G (p.Thr1198=)
c.3582C>G (p.Thr1194=)
2g.144389493G>TCA429217462ZEB2c.*3452C>A (n.*3452C>A)
c.2826C>A (p.Thr942=)
c.3603C>A (p.Thr1201=)
c.3491C>A (p.Pro1164Gln)
n.3572C>A
c.3267C>A (p.Thr1089=)
c.3678C>A (p.Thr1226=)
c.*3320C>A (n.*3320C>A)
n.3703C>A
c.151+6919C>A (n.151+6919C>A)
c.823C>A (n.823C>A)
c.1134C>A (p.Thr378=)
c.3600C>A (p.Thr1200=)
c.656-611C>A (n.656-611C>A)
c.3531C>A (p.Thr1177=)
c.3594C>A (p.Thr1198=)
c.3582C>A (p.Thr1194=)
2g.144389494G>ACA348698638ZEB2c.*3451C>T (n.*3451C>T)
c.2825C>T (p.Thr942Ile)
c.3602C>T (p.Thr1201Ile)
c.3490C>T (p.Pro1164Ser)
n.3571C>T
c.3266C>T (p.Thr1089Ile)
c.3677C>T (p.Thr1226Ile)
c.*3319C>T (n.*3319C>T)
n.3702C>T
c.151+6918C>T (n.151+6918C>T)
c.822C>T (n.822C>T)
c.1133C>T (p.Thr378Ile)
c.3599C>T (p.Thr1200Ile)
c.656-612C>T (n.656-612C>T)
c.3530C>T (p.Thr1177Ile)
c.3593C>T (p.Thr1198Ile)
c.3581C>T (p.Thr1194Ile)
2g.144389494G>CCA348698639ZEB2c.*3451C>G (n.*3451C>G)
c.2825C>G (p.Thr942Ser)
c.3602C>G (p.Thr1201Ser)
c.3490C>G (p.Pro1164Ala)
n.3571C>G
c.3266C>G (p.Thr1089Ser)
c.3677C>G (p.Thr1226Ser)
c.*3319C>G (n.*3319C>G)
n.3702C>G
c.151+6918C>G (n.151+6918C>G)
c.822C>G (n.822C>G)
c.1133C>G (p.Thr378Ser)
c.3599C>G (p.Thr1200Ser)
c.656-612C>G (n.656-612C>G)
c.3530C>G (p.Thr1177Ser)
c.3593C>G (p.Thr1198Ser)
c.3581C>G (p.Thr1194Ser)
2g.144389494G>TCA348698640ZEB2c.*3451C>A (n.*3451C>A)
c.2825C>A (p.Thr942Asn)
c.3602C>A (p.Thr1201Asn)
c.3490C>A (p.Pro1164Thr)
n.3571C>A
c.3266C>A (p.Thr1089Asn)
c.3677C>A (p.Thr1226Asn)
c.*3319C>A (n.*3319C>A)
n.3702C>A
c.151+6918C>A (n.151+6918C>A)
c.822C>A (n.822C>A)
c.1133C>A (p.Thr378Asn)
c.3599C>A (p.Thr1200Asn)
c.656-612C>A (n.656-612C>A)
c.3530C>A (p.Thr1177Asn)
c.3593C>A (p.Thr1198Asn)
c.3581C>A (p.Thr1194Asn)
2g.144389495T>ACA348698641ZEB2c.*3450A>T (n.*3450A>T)
c.2824A>T (p.Thr942Ser)
c.3601A>T (p.Thr1201Ser)
c.3489A>T (p.Lys1163Asn)
n.3570A>T
c.3265A>T (p.Thr1089Ser)
c.3676A>T (p.Thr1226Ser)
c.*3318A>T (n.*3318A>T)
n.3701A>T
c.151+6917A>T (n.151+6917A>T)
c.821A>T (n.821A>T)
c.1132A>T (p.Thr378Ser)
c.3598A>T (p.Thr1200Ser)
c.656-613A>T (n.656-613A>T)
c.3529A>T (p.Thr1177Ser)
c.3592A>T (p.Thr1198Ser)
c.3580A>T (p.Thr1194Ser)
2g.144389495T>CCA348698642ZEB2c.*3450A>G (n.*3450A>G)
c.2824A>G (p.Thr942Ala)
c.3601A>G (p.Thr1201Ala)
c.3489A>G (p.Lys1163=)
n.3570A>G
c.3265A>G (p.Thr1089Ala)
c.3676A>G (p.Thr1226Ala)
c.*3318A>G (n.*3318A>G)
n.3701A>G
c.151+6917A>G (n.151+6917A>G)
c.821A>G (n.821A>G)
c.1132A>G (p.Thr378Ala)
c.3598A>G (p.Thr1200Ala)
c.656-613A>G (n.656-613A>G)
c.3529A>G (p.Thr1177Ala)
c.3592A>G (p.Thr1198Ala)
c.3580A>G (p.Thr1194Ala)
2g.144389495T>GCA348698643ZEB2c.*3450A>C (n.*3450A>C)
c.2824A>C (p.Thr942Pro)
c.3601A>C (p.Thr1201Pro)
c.3489A>C (p.Lys1163Asn)
n.3570A>C
c.3265A>C (p.Thr1089Pro)
c.3676A>C (p.Thr1226Pro)
c.*3318A>C (n.*3318A>C)
n.3701A>C
c.151+6917A>C (n.151+6917A>C)
c.821A>C (n.821A>C)
c.1132A>C (p.Thr378Pro)
c.3598A>C (p.Thr1200Pro)
c.656-613A>C (n.656-613A>C)
c.3529A>C (p.Thr1177Pro)
c.3592A>C (p.Thr1198Pro)
c.3580A>C (p.Thr1194Pro)
2g.144389496T>ACA348698644ZEB2c.*3449A>T (n.*3449A>T)
c.2823A>T (p.Glu941Asp)
c.3600A>T (p.Glu1200Asp)
c.3488A>T (p.Lys1163Ile)
n.3569A>T
c.3264A>T (p.Glu1088Asp)
c.3675A>T (p.Glu1225Asp)
c.*3317A>T (n.*3317A>T)
n.3700A>T
c.151+6916A>T (n.151+6916A>T)
c.820A>T (n.820A>T)
c.1131A>T (p.Glu377Asp)
c.3597A>T (p.Glu1199Asp)
c.656-614A>T (n.656-614A>T)
c.3528A>T (p.Glu1176Asp)
c.3591A>T (p.Glu1197Asp)
c.3579A>T (p.Glu1193Asp)
2g.144389496T>CCA429217463ZEB2c.*3449A>G (n.*3449A>G)
c.2823A>G (p.Glu941=)
c.3600A>G (p.Glu1200=)
c.3488A>G (p.Lys1163Arg)
n.3569A>G
c.3264A>G (p.Glu1088=)
c.3675A>G (p.Glu1225=)
c.*3317A>G (n.*3317A>G)
n.3700A>G
c.151+6916A>G (n.151+6916A>G)
c.820A>G (n.820A>G)
c.1131A>G (p.Glu377=)
c.3597A>G (p.Glu1199=)
c.656-614A>G (n.656-614A>G)
c.3528A>G (p.Glu1176=)
c.3591A>G (p.Glu1197=)
c.3579A>G (p.Glu1193=)
2g.144389496T>GCA348698645ZEB2c.*3449A>C (n.*3449A>C)
c.2823A>C (p.Glu941Asp)
c.3600A>C (p.Glu1200Asp)
c.3488A>C (p.Lys1163Thr)
n.3569A>C
c.3264A>C (p.Glu1088Asp)
c.3675A>C (p.Glu1225Asp)
c.*3317A>C (n.*3317A>C)
n.3700A>C
c.151+6916A>C (n.151+6916A>C)
c.820A>C (n.820A>C)
c.1131A>C (p.Glu377Asp)
c.3597A>C (p.Glu1199Asp)
c.656-614A>C (n.656-614A>C)
c.3528A>C (p.Glu1176Asp)
c.3591A>C (p.Glu1197Asp)
c.3579A>C (p.Glu1193Asp)
2g.144389497T>ACA348698646ZEB2c.*3448A>T (n.*3448A>T)
c.2822A>T (p.Glu941Val)
c.3599A>T (p.Glu1200Val)
c.3487A>T (p.Lys1163Ter)
n.3568A>T
c.3263A>T (p.Glu1088Val)
c.3674A>T (p.Glu1225Val)
c.*3316A>T (n.*3316A>T)
n.3699A>T
c.151+6915A>T (n.151+6915A>T)
c.819A>T (n.819A>T)
c.1130A>T (p.Glu377Val)
c.3596A>T (p.Glu1199Val)
c.656-615A>T (n.656-615A>T)
c.3527A>T (p.Glu1176Val)
c.3590A>T (p.Glu1197Val)
c.3578A>T (p.Glu1193Val)
2g.144389497T>CCA348698647ZEB2c.*3448A>G (n.*3448A>G)
c.2822A>G (p.Glu941Gly)
c.3599A>G (p.Glu1200Gly)
c.3487A>G (p.Lys1163Glu)
n.3568A>G
c.3263A>G (p.Glu1088Gly)
c.3674A>G (p.Glu1225Gly)
c.*3316A>G (n.*3316A>G)
n.3699A>G
c.151+6915A>G (n.151+6915A>G)
c.819A>G (n.819A>G)
c.1130A>G (p.Glu377Gly)
c.3596A>G (p.Glu1199Gly)
c.656-615A>G (n.656-615A>G)
c.3527A>G (p.Glu1176Gly)
c.3590A>G (p.Glu1197Gly)
c.3578A>G (p.Glu1193Gly)
 ClinVar dbSNP
2g.144389497T>GCA348698648ZEB2c.*3448A>C (n.*3448A>C)
c.2822A>C (p.Glu941Ala)
c.3599A>C (p.Glu1200Ala)
c.3487A>C (p.Lys1163Gln)
n.3568A>C
c.3263A>C (p.Glu1088Ala)
c.3674A>C (p.Glu1225Ala)
c.*3316A>C (n.*3316A>C)
n.3699A>C
c.151+6915A>C (n.151+6915A>C)
c.819A>C (n.819A>C)
c.1130A>C (p.Glu377Ala)
c.3596A>C (p.Glu1199Ala)
c.656-615A>C (n.656-615A>C)
c.3527A>C (p.Glu1176Ala)
c.3590A>C (p.Glu1197Ala)
c.3578A>C (p.Glu1193Ala)
2g.144389497T=CA1294881225ZEB2c.*3448A= (n.*3448A=)
c.2822A= (p.Glu941=)
c.3599A= (p.Glu1200=)
c.3487A= (p.Lys1163=)
n.3568A=
c.3263A= (p.Glu1088=)
c.3674A= (p.Glu1225=)
c.*3316A= (n.*3316A=)
n.3699A=
c.151+6915A= (n.151+6915A=)
c.819A= (n.819A=)
c.1130A= (p.Glu377=)
c.3596A= (p.Glu1199=)
c.656-615A= (n.656-615A=)
c.3527A= (p.Glu1176=)
c.3590A= (p.Glu1197=)
c.3578A= (p.Glu1193=)
2g.144389498C>ACA348698649ZEB2c.*3447G>T (n.*3447G>T)
c.2821G>T (p.Glu941Ter)
c.3598G>T (p.Glu1200Ter)
c.3486G>T (p.Trp1162Cys)
n.3567G>T
c.3262G>T (p.Glu1088Ter)
c.3673G>T (p.Glu1225Ter)
c.*3315G>T (n.*3315G>T)
n.3698G>T
c.151+6914G>T (n.151+6914G>T)
c.818G>T (n.818G>T)
c.1129G>T (p.Glu377Ter)
c.3595G>T (p.Glu1199Ter)
c.656-616G>T (n.656-616G>T)
c.3526G>T (p.Glu1176Ter)
c.3589G>T (p.Glu1197Ter)
c.3577G>T (p.Glu1193Ter)
2g.144389498C>GCA348698650ZEB2c.*3447G>C (n.*3447G>C)
c.2821G>C (p.Glu941Gln)
c.3598G>C (p.Glu1200Gln)
c.3486G>C (p.Trp1162Cys)
n.3567G>C
c.3262G>C (p.Glu1088Gln)
c.3673G>C (p.Glu1225Gln)
c.*3315G>C (n.*3315G>C)
n.3698G>C
c.151+6914G>C (n.151+6914G>C)
c.818G>C (n.818G>C)
c.1129G>C (p.Glu377Gln)
c.3595G>C (p.Glu1199Gln)
c.656-616G>C (n.656-616G>C)
c.3526G>C (p.Glu1176Gln)
c.3589G>C (p.Glu1197Gln)
c.3577G>C (p.Glu1193Gln)
2g.144389498C>TCA348698651ZEB2c.*3447G>A (n.*3447G>A)
c.2821G>A (p.Glu941Lys)
c.3598G>A (p.Glu1200Lys)
c.3486G>A (p.Trp1162Ter)
n.3567G>A
c.3262G>A (p.Glu1088Lys)
c.3673G>A (p.Glu1225Lys)
c.*3315G>A (n.*3315G>A)
n.3698G>A
c.151+6914G>A (n.151+6914G>A)
c.818G>A (n.818G>A)
c.1129G>A (p.Glu377Lys)
c.3595G>A (p.Glu1199Lys)
c.656-616G>A (n.656-616G>A)
c.3526G>A (p.Glu1176Lys)
c.3589G>A (p.Glu1197Lys)
c.3577G>A (p.Glu1193Lys)
2g.144389499C>ACA348698652ZEB2c.*3446G>T (n.*3446G>T)
c.2820G>T (p.Met940Ile)
c.3597G>T (p.Met1199Ile)
c.3485G>T (p.Trp1162Leu)
n.3566G>T
c.3261G>T (p.Met1087Ile)
c.3672G>T (p.Met1224Ile)
c.*3314G>T (n.*3314G>T)
n.3697G>T
c.151+6913G>T (n.151+6913G>T)
c.817G>T (n.817G>T)
c.1128G>T (p.Met376Ile)
c.3594G>T (p.Met1198Ile)
c.656-617G>T (n.656-617G>T)
c.3525G>T (p.Met1175Ile)
c.3588G>T (p.Met1196Ile)
c.3576G>T (p.Met1192Ile)
2g.144389499C>GCA348698653ZEB2c.*3446G>C (n.*3446G>C)
c.2820G>C (p.Met940Ile)
c.3597G>C (p.Met1199Ile)
c.3485G>C (p.Trp1162Ser)
n.3566G>C
c.3261G>C (p.Met1087Ile)
c.3672G>C (p.Met1224Ile)
c.*3314G>C (n.*3314G>C)
n.3697G>C
c.151+6913G>C (n.151+6913G>C)
c.817G>C (n.817G>C)
c.1128G>C (p.Met376Ile)
c.3594G>C (p.Met1198Ile)
c.656-617G>C (n.656-617G>C)
c.3525G>C (p.Met1175Ile)
c.3588G>C (p.Met1196Ile)
c.3576G>C (p.Met1192Ile)
2g.144389499C>TCA348698654ZEB2c.*3446G>A (n.*3446G>A)
c.2820G>A (p.Met940Ile)
c.3597G>A (p.Met1199Ile)
c.3485G>A (p.Trp1162Ter)
n.3566G>A
c.3261G>A (p.Met1087Ile)
c.3672G>A (p.Met1224Ile)
c.*3314G>A (n.*3314G>A)
n.3697G>A
c.151+6913G>A (n.151+6913G>A)
c.817G>A (n.817G>A)
c.1128G>A (p.Met376Ile)
c.3594G>A (p.Met1198Ile)
c.656-617G>A (n.656-617G>A)
c.3525G>A (p.Met1175Ile)
c.3588G>A (p.Met1196Ile)
c.3576G>A (p.Met1192Ile)
 gnomAD v4
2g.144389500A>CCA348698655ZEB2c.*3445T>G (n.*3445T>G)
c.2819T>G (p.Met940Arg)
c.3596T>G (p.Met1199Arg)
c.3484T>G (p.Trp1162Gly)
n.3565T>G
c.3260T>G (p.Met1087Arg)
c.3671T>G (p.Met1224Arg)
c.*3313T>G (n.*3313T>G)
n.3696T>G
c.151+6912T>G (n.151+6912T>G)
c.816T>G (n.816T>G)
c.1127T>G (p.Met376Arg)
c.3593T>G (p.Met1198Arg)
c.656-618T>G (n.656-618T>G)
c.3524T>G (p.Met1175Arg)
c.3587T>G (p.Met1196Arg)
c.3575T>G (p.Met1192Arg)
2g.144389500A>GCA348698656ZEB2c.*3445T>C (n.*3445T>C)
c.2819T>C (p.Met940Thr)
c.3596T>C (p.Met1199Thr)
c.3484T>C (p.Trp1162Arg)
n.3565T>C
c.3260T>C (p.Met1087Thr)
c.3671T>C (p.Met1224Thr)
c.*3313T>C (n.*3313T>C)
n.3696T>C
c.151+6912T>C (n.151+6912T>C)
c.816T>C (n.816T>C)
c.1127T>C (p.Met376Thr)
c.3593T>C (p.Met1198Thr)
c.656-618T>C (n.656-618T>C)
c.3524T>C (p.Met1175Thr)
c.3587T>C (p.Met1196Thr)
c.3575T>C (p.Met1192Thr)
2g.144389500A>TCA348698657ZEB2c.*3445T>A (n.*3445T>A)
c.2819T>A (p.Met940Lys)
c.3596T>A (p.Met1199Lys)
c.3484T>A (p.Trp1162Arg)
n.3565T>A
c.3260T>A (p.Met1087Lys)
c.3671T>A (p.Met1224Lys)
c.*3313T>A (n.*3313T>A)
n.3696T>A
c.151+6912T>A (n.151+6912T>A)
c.816T>A (n.816T>A)
c.1127T>A (p.Met376Lys)
c.3593T>A (p.Met1198Lys)
c.656-618T>A (n.656-618T>A)
c.3524T>A (p.Met1175Lys)
c.3587T>A (p.Met1196Lys)
c.3575T>A (p.Met1192Lys)
2g.144389501T>ACA348698660ZEB2c.*3444A>T (n.*3444A>T)
c.2818A>T (p.Met940Leu)
c.3595A>T (p.Met1199Leu)
c.3483A>T (p.Lys1161Asn)
n.3564A>T
c.3259A>T (p.Met1087Leu)
c.3670A>T (p.Met1224Leu)
c.*3312A>T (n.*3312A>T)
n.3695A>T
c.151+6911A>T (n.151+6911A>T)
c.815A>T (n.815A>T)
c.1126A>T (p.Met376Leu)
c.3592A>T (p.Met1198Leu)
c.656-619A>T (n.656-619A>T)
c.3523A>T (p.Met1175Leu)
c.3586A>T (p.Met1196Leu)
c.3574A>T (p.Met1192Leu)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.144389501T>CCA348698659ZEB2c.*3444A>G (n.*3444A>G)
c.2818A>G (p.Met940Val)
c.3595A>G (p.Met1199Val)
c.3483A>G (p.Lys1161=)
n.3564A>G
c.3259A>G (p.Met1087Val)
c.3670A>G (p.Met1224Val)
c.*3312A>G (n.*3312A>G)
n.3695A>G
c.151+6911A>G (n.151+6911A>G)
c.815A>G (n.815A>G)
c.1126A>G (p.Met376Val)
c.3592A>G (p.Met1198Val)
c.656-619A>G (n.656-619A>G)
c.3523A>G (p.Met1175Val)
c.3586A>G (p.Met1196Val)
c.3574A>G (p.Met1192Val)
2g.144389501T>GCA348698658ZEB2c.*3444A>C (n.*3444A>C)
c.2818A>C (p.Met940Leu)
c.3595A>C (p.Met1199Leu)
c.3483A>C (p.Lys1161Asn)
n.3564A>C
c.3259A>C (p.Met1087Leu)
c.3670A>C (p.Met1224Leu)
c.*3312A>C (n.*3312A>C)
n.3695A>C
c.151+6911A>C (n.151+6911A>C)
c.815A>C (n.815A>C)
c.1126A>C (p.Met376Leu)
c.3592A>C (p.Met1198Leu)
c.656-619A>C (n.656-619A>C)
c.3523A>C (p.Met1175Leu)
c.3586A>C (p.Met1196Leu)
c.3574A>C (p.Met1192Leu)
2g.144389501T=CA1294881226ZEB2c.*3444A= (n.*3444A=)
c.2818A= (p.Met940=)
c.3595A= (p.Met1199=)
c.3483A= (p.Lys1161=)
n.3564A=
c.3259A= (p.Met1087=)
c.3670A= (p.Met1224=)
c.*3312A= (n.*3312A=)
n.3695A=
c.151+6911A= (n.151+6911A=)
c.815A= (n.815A=)
c.1126A= (p.Met376=)
c.3592A= (p.Met1198=)
c.656-619A= (n.656-619A=)
c.3523A= (p.Met1175=)
c.3586A= (p.Met1196=)
c.3574A= (p.Met1192=)
2g.144389502T>ACA348698661ZEB2c.*3443A>T (n.*3443A>T)
c.2817A>T (p.Lys939Asn)
c.3594A>T (p.Lys1198Asn)
c.3482A>T (p.Lys1161Ile)
n.3563A>T
c.3258A>T (p.Lys1086Asn)
c.3669A>T (p.Lys1223Asn)
c.*3311A>T (n.*3311A>T)
n.3694A>T
c.151+6910A>T (n.151+6910A>T)
c.814A>T (n.814A>T)
c.1125A>T (p.Lys375Asn)
c.3591A>T (p.Lys1197Asn)
c.656-620A>T (n.656-620A>T)
c.3522A>T (p.Lys1174Asn)
c.3585A>T (p.Lys1195Asn)
c.3573A>T (p.Lys1191Asn)
2g.144389502T>CCA429217464ZEB2c.*3443A>G (n.*3443A>G)
c.2817A>G (p.Lys939=)
c.3594A>G (p.Lys1198=)
c.3482A>G (p.Lys1161Arg)
n.3563A>G
c.3258A>G (p.Lys1086=)
c.3669A>G (p.Lys1223=)
c.*3311A>G (n.*3311A>G)
n.3694A>G
c.151+6910A>G (n.151+6910A>G)
c.814A>G (n.814A>G)
c.1125A>G (p.Lys375=)
c.3591A>G (p.Lys1197=)
c.656-620A>G (n.656-620A>G)
c.3522A>G (p.Lys1174=)
c.3585A>G (p.Lys1195=)
c.3573A>G (p.Lys1191=)
 gnomAD v4
2g.144389502T>GCA348698662ZEB2c.*3443A>C (n.*3443A>C)
c.2817A>C (p.Lys939Asn)
c.3594A>C (p.Lys1198Asn)
c.3482A>C (p.Lys1161Thr)
n.3563A>C
c.3258A>C (p.Lys1086Asn)
c.3669A>C (p.Lys1223Asn)
c.*3311A>C (n.*3311A>C)
n.3694A>C
c.151+6910A>C (n.151+6910A>C)
c.814A>C (n.814A>C)
c.1125A>C (p.Lys375Asn)
c.3591A>C (p.Lys1197Asn)
c.656-620A>C (n.656-620A>C)
c.3522A>C (p.Lys1174Asn)
c.3585A>C (p.Lys1195Asn)
c.3573A>C (p.Lys1191Asn)
2g.144389503T>ACA348698663ZEB2c.*3442A>T (n.*3442A>T)
c.2816A>T (p.Lys939Ile)
c.3593A>T (p.Lys1198Ile)
c.3481A>T (p.Lys1161Ter)
n.3562A>T
c.3257A>T (p.Lys1086Ile)
c.3668A>T (p.Lys1223Ile)
c.*3310A>T (n.*3310A>T)
n.3693A>T
c.151+6909A>T (n.151+6909A>T)
c.813A>T (n.813A>T)
c.1124A>T (p.Lys375Ile)
c.3590A>T (p.Lys1197Ile)
c.656-621A>T (n.656-621A>T)
c.3521A>T (p.Lys1174Ile)
c.3584A>T (p.Lys1195Ile)
c.3572A>T (p.Lys1191Ile)
2g.144389503T>CCA348698665ZEB2c.*3442A>G (n.*3442A>G)
c.2816A>G (p.Lys939Arg)
c.3593A>G (p.Lys1198Arg)
c.3481A>G (p.Lys1161Glu)
n.3562A>G
c.3257A>G (p.Lys1086Arg)
c.3668A>G (p.Lys1223Arg)
c.*3310A>G (n.*3310A>G)
n.3693A>G
c.151+6909A>G (n.151+6909A>G)
c.813A>G (n.813A>G)
c.1124A>G (p.Lys375Arg)
c.3590A>G (p.Lys1197Arg)
c.656-621A>G (n.656-621A>G)
c.3521A>G (p.Lys1174Arg)
c.3584A>G (p.Lys1195Arg)
c.3572A>G (p.Lys1191Arg)
2g.144389503T>GCA348698664ZEB2c.*3442A>C (n.*3442A>C)
c.2816A>C (p.Lys939Thr)
c.3593A>C (p.Lys1198Thr)
c.3481A>C (p.Lys1161Gln)
n.3562A>C
c.3257A>C (p.Lys1086Thr)
c.3668A>C (p.Lys1223Thr)
c.*3310A>C (n.*3310A>C)
n.3693A>C
c.151+6909A>C (n.151+6909A>C)
c.813A>C (n.813A>C)
c.1124A>C (p.Lys375Thr)
c.3590A>C (p.Lys1197Thr)
c.656-621A>C (n.656-621A>C)
c.3521A>C (p.Lys1174Thr)
c.3584A>C (p.Lys1195Thr)
c.3572A>C (p.Lys1191Thr)
2g.144389504T>ACA348698666ZEB2c.*3441A>T (n.*3441A>T)
c.2815A>T (p.Lys939Ter)
c.3592A>T (p.Lys1198Ter)
c.3480A>T (p.Gly1160=)
n.3561A>T
c.3256A>T (p.Lys1086Ter)
c.3667A>T (p.Lys1223Ter)
c.*3309A>T (n.*3309A>T)
n.3692A>T
c.151+6908A>T (n.151+6908A>T)
c.812A>T (n.812A>T)
c.1123A>T (p.Lys375Ter)
c.3589A>T (p.Lys1197Ter)
c.656-622A>T (n.656-622A>T)
c.3520A>T (p.Lys1174Ter)
c.3583A>T (p.Lys1195Ter)
c.3571A>T (p.Lys1191Ter)
2g.144389504T>CCA348698667ZEB2c.*3441A>G (n.*3441A>G)
c.2815A>G (p.Lys939Glu)
c.3592A>G (p.Lys1198Glu)
c.3480A>G (p.Gly1160=)
n.3561A>G
c.3256A>G (p.Lys1086Glu)
c.3667A>G (p.Lys1223Glu)
c.*3309A>G (n.*3309A>G)
n.3692A>G
c.151+6908A>G (n.151+6908A>G)
c.812A>G (n.812A>G)
c.1123A>G (p.Lys375Glu)
c.3589A>G (p.Lys1197Glu)
c.656-622A>G (n.656-622A>G)
c.3520A>G (p.Lys1174Glu)
c.3583A>G (p.Lys1195Glu)
c.3571A>G (p.Lys1191Glu)
2g.144389504T>GCA348698668ZEB2c.*3441A>C (n.*3441A>C)
c.2815A>C (p.Lys939Gln)
c.3592A>C (p.Lys1198Gln)
c.3480A>C (p.Gly1160=)
n.3561A>C
c.3256A>C (p.Lys1086Gln)
c.3667A>C (p.Lys1223Gln)
c.*3309A>C (n.*3309A>C)
n.3692A>C
c.151+6908A>C (n.151+6908A>C)
c.812A>C (n.812A>C)
c.1123A>C (p.Lys375Gln)
c.3589A>C (p.Lys1197Gln)
c.656-622A>C (n.656-622A>C)
c.3520A>C (p.Lys1174Gln)
c.3583A>C (p.Lys1195Gln)
c.3571A>C (p.Lys1191Gln)
2g.144389505C>ACA429217467ZEB2c.*3440G>T (n.*3440G>T)
c.2814G>T (p.Gly938=)
c.3591G>T (p.Gly1197=)
c.3479G>T (p.Gly1160Val)
n.3560G>T
c.3255G>T (p.Gly1085=)
c.3666G>T (p.Gly1222=)
c.*3308G>T (n.*3308G>T)
n.3691G>T
c.151+6907G>T (n.151+6907G>T)
c.811G>T (n.811G>T)
c.1122G>T (p.Gly374=)
c.3588G>T (p.Gly1196=)
c.656-623G>T (n.656-623G>T)
c.3519G>T (p.Gly1173=)
c.3582G>T (p.Gly1194=)
c.3570G>T (p.Gly1190=)
2g.144389505C=CA1294881227ZEB2c.*3440G= (n.*3440G=)
c.2814G= (p.Gly938=)
c.3591G= (p.Gly1197=)
c.3479G= (p.Gly1160=)
n.3560G=
c.3255G= (p.Gly1085=)
c.3666G= (p.Gly1222=)
c.*3308G= (n.*3308G=)
n.3691G=
c.151+6907G= (n.151+6907G=)
c.811G= (n.811G=)
c.1122G= (p.Gly374=)
c.3588G= (p.Gly1196=)
c.656-623G= (n.656-623G=)
c.3519G= (p.Gly1173=)
c.3582G= (p.Gly1194=)
c.3570G= (p.Gly1190=)
2g.144389505C>GCA429217465ZEB2c.*3440G>C (n.*3440G>C)
c.2814G>C (p.Gly938=)
c.3591G>C (p.Gly1197=)
c.3479G>C (p.Gly1160Ala)
n.3560G>C
c.3255G>C (p.Gly1085=)
c.3666G>C (p.Gly1222=)
c.*3308G>C (n.*3308G>C)
n.3691G>C
c.151+6907G>C (n.151+6907G>C)
c.811G>C (n.811G>C)
c.1122G>C (p.Gly374=)
c.3588G>C (p.Gly1196=)
c.656-623G>C (n.656-623G>C)
c.3519G>C (p.Gly1173=)
c.3582G>C (p.Gly1194=)
c.3570G>C (p.Gly1190=)
2g.144389505C>TCA429217466ZEB2c.*3440G>A (n.*3440G>A)
c.2814G>A (p.Gly938=)
c.3591G>A (p.Gly1197=)
c.3479G>A (p.Gly1160Glu)
n.3560G>A
c.3255G>A (p.Gly1085=)
c.3666G>A (p.Gly1222=)
c.*3308G>A (n.*3308G>A)
n.3691G>A
c.151+6907G>A (n.151+6907G>A)
c.811G>A (n.811G>A)
c.1122G>A (p.Gly374=)
c.3588G>A (p.Gly1196=)
c.656-623G>A (n.656-623G>A)
c.3519G>A (p.Gly1173=)
c.3582G>A (p.Gly1194=)
c.3570G>A (p.Gly1190=)
 ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC
2g.144389506C>ACA348698669ZEB2c.*3439G>T (n.*3439G>T)
c.2813G>T (p.Gly938Val)
c.3590G>T (p.Gly1197Val)
c.3478G>T (p.Gly1160Ter)
n.3559G>T
c.3254G>T (p.Gly1085Val)
c.3665G>T (p.Gly1222Val)
c.*3307G>T (n.*3307G>T)
n.3690G>T
c.151+6906G>T (n.151+6906G>T)
c.810G>T (n.810G>T)
c.1121G>T (p.Gly374Val)
c.3587G>T (p.Gly1196Val)
c.656-624G>T (n.656-624G>T)
c.3518G>T (p.Gly1173Val)
c.3581G>T (p.Gly1194Val)
c.3569G>T (p.Gly1190Val)
2g.144389506C>GCA348698670ZEB2c.*3439G>C (n.*3439G>C)
c.2813G>C (p.Gly938Ala)
c.3590G>C (p.Gly1197Ala)
c.3478G>C (p.Gly1160Arg)
n.3559G>C
c.3254G>C (p.Gly1085Ala)
c.3665G>C (p.Gly1222Ala)
c.*3307G>C (n.*3307G>C)
n.3690G>C
c.151+6906G>C (n.151+6906G>C)
c.810G>C (n.810G>C)
c.1121G>C (p.Gly374Ala)
c.3587G>C (p.Gly1196Ala)
c.656-624G>C (n.656-624G>C)
c.3518G>C (p.Gly1173Ala)
c.3581G>C (p.Gly1194Ala)
c.3569G>C (p.Gly1190Ala)
 gnomAD v4
2g.144389506C>TCA348698671ZEB2c.*3439G>A (n.*3439G>A)
c.2813G>A (p.Gly938Glu)
c.3590G>A (p.Gly1197Glu)
c.3478G>A (p.Gly1160Arg)
n.3559G>A
c.3254G>A (p.Gly1085Glu)
c.3665G>A (p.Gly1222Glu)
c.*3307G>A (n.*3307G>A)
n.3690G>A
c.151+6906G>A (n.151+6906G>A)
c.810G>A (n.810G>A)
c.1121G>A (p.Gly374Glu)
c.3587G>A (p.Gly1196Glu)
c.656-624G>A (n.656-624G>A)
c.3518G>A (p.Gly1173Glu)
c.3581G>A (p.Gly1194Glu)
c.3569G>A (p.Gly1190Glu)

Number of alleles fetched