Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.144389538T>ACA429441066ZEB2c.*3407A>T (n.*3407A>T)
c.2781A>T (p.Gly927=)
c.3558A>T (p.Gly1186=)
c.3446A>T (p.Glu1149Val)
n.3527A>T
c.3222A>T (p.Gly1074=)
c.3633A>T (p.Gly1211=)
c.*3275A>T (n.*3275A>T)
n.3658A>T
c.151+6874A>T (n.151+6874A>T)
c.778A>T (n.778A>T)
c.1089A>T (p.Gly363=)
c.3555A>T (p.Gly1185=)
c.656-656A>T (n.656-656A>T)
c.3486A>T (p.Gly1162=)
c.3549A>T (p.Gly1183=)
c.3537A>T (p.Gly1179=)
2g.144389538T>CCA429441067ZEB2c.*3407A>G (n.*3407A>G)
c.2781A>G (p.Gly927=)
c.3558A>G (p.Gly1186=)
c.3446A>G (p.Glu1149Gly)
n.3527A>G
c.3222A>G (p.Gly1074=)
c.3633A>G (p.Gly1211=)
c.*3275A>G (n.*3275A>G)
n.3658A>G
c.151+6874A>G (n.151+6874A>G)
c.778A>G (n.778A>G)
c.1089A>G (p.Gly363=)
c.3555A>G (p.Gly1185=)
c.656-656A>G (n.656-656A>G)
c.3486A>G (p.Gly1162=)
c.3549A>G (p.Gly1183=)
c.3537A>G (p.Gly1179=)
2g.144389538T>GCA429441068ZEB2c.*3407A>C (n.*3407A>C)
c.2781A>C (p.Gly927=)
c.3558A>C (p.Gly1186=)
c.3446A>C (p.Glu1149Ala)
n.3527A>C
c.3222A>C (p.Gly1074=)
c.3633A>C (p.Gly1211=)
c.*3275A>C (n.*3275A>C)
n.3658A>C
c.151+6874A>C (n.151+6874A>C)
c.778A>C (n.778A>C)
c.1089A>C (p.Gly363=)
c.3555A>C (p.Gly1185=)
c.656-656A>C (n.656-656A>C)
c.3486A>C (p.Gly1162=)
c.3549A>C (p.Gly1183=)
c.3537A>C (p.Gly1179=)
2g.144389539C>ACA1898103ZEB2c.*3406G>T (n.*3406G>T)
c.2780G>T (p.Gly927Val)
c.3557G>T (p.Gly1186Val)
c.3445G>T (p.Glu1149Ter)
n.3526G>T
c.3221G>T (p.Gly1074Val)
c.3632G>T (p.Gly1211Val)
c.*3274G>T (n.*3274G>T)
n.3657G>T
c.151+6873G>T (n.151+6873G>T)
c.777G>T (n.777G>T)
c.1088G>T (p.Gly363Val)
c.3554G>T (p.Gly1185Val)
c.656-657G>T (n.656-657G>T)
c.3485G>T (p.Gly1162Val)
c.3548G>T (p.Gly1183Val)
c.3536G>T (p.Gly1179Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.144389539C=CA1294881241ZEB2c.*3406G= (n.*3406G=)
c.2780G= (p.Gly927=)
c.3557G= (p.Gly1186=)
c.3445G= (p.Glu1149=)
n.3526G=
c.3221G= (p.Gly1074=)
c.3632G= (p.Gly1211=)
c.*3274G= (n.*3274G=)
n.3657G=
c.151+6873G= (n.151+6873G=)
c.777G= (n.777G=)
c.1088G= (p.Gly363=)
c.3554G= (p.Gly1185=)
c.656-657G= (n.656-657G=)
c.3485G= (p.Gly1162=)
c.3548G= (p.Gly1183=)
c.3536G= (p.Gly1179=)
2g.144389539C>GCA348698966ZEB2c.*3406G>C (n.*3406G>C)
c.2780G>C (p.Gly927Ala)
c.3557G>C (p.Gly1186Ala)
c.3445G>C (p.Glu1149Gln)
n.3526G>C
c.3221G>C (p.Gly1074Ala)
c.3632G>C (p.Gly1211Ala)
c.*3274G>C (n.*3274G>C)
n.3657G>C
c.151+6873G>C (n.151+6873G>C)
c.777G>C (n.777G>C)
c.1088G>C (p.Gly363Ala)
c.3554G>C (p.Gly1185Ala)
c.656-657G>C (n.656-657G>C)
c.3485G>C (p.Gly1162Ala)
c.3548G>C (p.Gly1183Ala)
c.3536G>C (p.Gly1179Ala)
 ClinVar dbSNP
2g.144389539C>TCA348698962ZEB2c.*3406G>A (n.*3406G>A)
c.2780G>A (p.Gly927Glu)
c.3557G>A (p.Gly1186Glu)
c.3445G>A (p.Glu1149Lys)
n.3526G>A
c.3221G>A (p.Gly1074Glu)
c.3632G>A (p.Gly1211Glu)
c.*3274G>A (n.*3274G>A)
n.3657G>A
c.151+6873G>A (n.151+6873G>A)
c.777G>A (n.777G>A)
c.1088G>A (p.Gly363Glu)
c.3554G>A (p.Gly1185Glu)
c.656-657G>A (n.656-657G>A)
c.3485G>A (p.Gly1162Glu)
c.3548G>A (p.Gly1183Glu)
c.3536G>A (p.Gly1179Glu)
2g.144389540C>ACA348698969ZEB2c.*3405G>T (n.*3405G>T)
c.2779G>T (p.Gly927Ter)
c.3556G>T (p.Gly1186Ter)
c.3444G>T (p.Leu1148=)
n.3525G>T
c.3220G>T (p.Gly1074Ter)
c.3631G>T (p.Gly1211Ter)
c.*3273G>T (n.*3273G>T)
n.3656G>T
c.151+6872G>T (n.151+6872G>T)
c.776G>T (n.776G>T)
c.1087G>T (p.Gly363Ter)
c.3553G>T (p.Gly1185Ter)
c.656-658G>T (n.656-658G>T)
c.3484G>T (p.Gly1162Ter)
c.3547G>T (p.Gly1183Ter)
c.3535G>T (p.Gly1179Ter)
2g.144389540C>GCA348698976ZEB2c.*3405G>C (n.*3405G>C)
c.2779G>C (p.Gly927Arg)
c.3556G>C (p.Gly1186Arg)
c.3444G>C (p.Leu1148=)
n.3525G>C
c.3220G>C (p.Gly1074Arg)
c.3631G>C (p.Gly1211Arg)
c.*3273G>C (n.*3273G>C)
n.3656G>C
c.151+6872G>C (n.151+6872G>C)
c.776G>C (n.776G>C)
c.1087G>C (p.Gly363Arg)
c.3553G>C (p.Gly1185Arg)
c.656-658G>C (n.656-658G>C)
c.3484G>C (p.Gly1162Arg)
c.3547G>C (p.Gly1183Arg)
c.3535G>C (p.Gly1179Arg)
2g.144389540C>TCA348698978ZEB2c.*3405G>A (n.*3405G>A)
c.2779G>A (p.Gly927Arg)
c.3556G>A (p.Gly1186Arg)
c.3444G>A (p.Leu1148=)
n.3525G>A
c.3220G>A (p.Gly1074Arg)
c.3631G>A (p.Gly1211Arg)
c.*3273G>A (n.*3273G>A)
n.3656G>A
c.151+6872G>A (n.151+6872G>A)
c.776G>A (n.776G>A)
c.1087G>A (p.Gly363Arg)
c.3553G>A (p.Gly1185Arg)
c.656-658G>A (n.656-658G>A)
c.3484G>A (p.Gly1162Arg)
c.3547G>A (p.Gly1183Arg)
c.3535G>A (p.Gly1179Arg)
2g.144389541A>CCA429441069ZEB2c.*3404T>G (n.*3404T>G)
c.2778T>G (p.Thr926=)
c.3555T>G (p.Thr1185=)
c.3443T>G (p.Leu1148Arg)
n.3524T>G
c.3219T>G (p.Thr1073=)
c.3630T>G (p.Thr1210=)
c.*3272T>G (n.*3272T>G)
n.3655T>G
c.151+6871T>G (n.151+6871T>G)
c.775T>G (n.775T>G)
c.1086T>G (p.Thr362=)
c.3552T>G (p.Thr1184=)
c.656-659T>G (n.656-659T>G)
c.3483T>G (p.Thr1161=)
c.3546T>G (p.Thr1182=)
c.3534T>G (p.Thr1178=)
2g.144389541A>GCA429441070ZEB2c.*3404T>C (n.*3404T>C)
c.2778T>C (p.Thr926=)
c.3555T>C (p.Thr1185=)
c.3443T>C (p.Leu1148Pro)
n.3524T>C
c.3219T>C (p.Thr1073=)
c.3630T>C (p.Thr1210=)
c.*3272T>C (n.*3272T>C)
n.3655T>C
c.151+6871T>C (n.151+6871T>C)
c.775T>C (n.775T>C)
c.1086T>C (p.Thr362=)
c.3552T>C (p.Thr1184=)
c.656-659T>C (n.656-659T>C)
c.3483T>C (p.Thr1161=)
c.3546T>C (p.Thr1182=)
c.3534T>C (p.Thr1178=)
 gnomAD v4
2g.144389541A>TCA429441071ZEB2c.*3404T>A (n.*3404T>A)
c.2778T>A (p.Thr926=)
c.3555T>A (p.Thr1185=)
c.3443T>A (p.Leu1148Gln)
n.3524T>A
c.3219T>A (p.Thr1073=)
c.3630T>A (p.Thr1210=)
c.*3272T>A (n.*3272T>A)
n.3655T>A
c.151+6871T>A (n.151+6871T>A)
c.775T>A (n.775T>A)
c.1086T>A (p.Thr362=)
c.3552T>A (p.Thr1184=)
c.656-659T>A (n.656-659T>A)
c.3483T>A (p.Thr1161=)
c.3546T>A (p.Thr1182=)
c.3534T>A (p.Thr1178=)
2g.144389542G>ACA348698981ZEB2c.*3403C>T (n.*3403C>T)
c.2777C>T (p.Thr926Ile)
c.3554C>T (p.Thr1185Ile)
c.3442C>T (p.Leu1148=)
n.3523C>T
c.3218C>T (p.Thr1073Ile)
c.3629C>T (p.Thr1210Ile)
c.*3271C>T (n.*3271C>T)
n.3654C>T
c.151+6870C>T (n.151+6870C>T)
c.774C>T (n.774C>T)
c.1085C>T (p.Thr362Ile)
c.3551C>T (p.Thr1184Ile)
c.656-660C>T (n.656-660C>T)
c.3482C>T (p.Thr1161Ile)
c.3545C>T (p.Thr1182Ile)
c.3533C>T (p.Thr1178Ile)
 gnomAD v4
2g.144389542G>CCA348698983ZEB2c.*3403C>G (n.*3403C>G)
c.2777C>G (p.Thr926Ser)
c.3554C>G (p.Thr1185Ser)
c.3442C>G (p.Leu1148Val)
n.3523C>G
c.3218C>G (p.Thr1073Ser)
c.3629C>G (p.Thr1210Ser)
c.*3271C>G (n.*3271C>G)
n.3654C>G
c.151+6870C>G (n.151+6870C>G)
c.774C>G (n.774C>G)
c.1085C>G (p.Thr362Ser)
c.3551C>G (p.Thr1184Ser)
c.656-660C>G (n.656-660C>G)
c.3482C>G (p.Thr1161Ser)
c.3545C>G (p.Thr1182Ser)
c.3533C>G (p.Thr1178Ser)
2g.144389542G>TCA348698985ZEB2c.*3403C>A (n.*3403C>A)
c.2777C>A (p.Thr926Asn)
c.3554C>A (p.Thr1185Asn)
c.3442C>A (p.Leu1148Met)
n.3523C>A
c.3218C>A (p.Thr1073Asn)
c.3629C>A (p.Thr1210Asn)
c.*3271C>A (n.*3271C>A)
n.3654C>A
c.151+6870C>A (n.151+6870C>A)
c.774C>A (n.774C>A)
c.1085C>A (p.Thr362Asn)
c.3551C>A (p.Thr1184Asn)
c.656-660C>A (n.656-660C>A)
c.3482C>A (p.Thr1161Asn)
c.3545C>A (p.Thr1182Asn)
c.3533C>A (p.Thr1178Asn)
2g.144389543T>ACA348698988ZEB2c.*3402A>T (n.*3402A>T)
c.2776A>T (p.Thr926Ser)
c.3553A>T (p.Thr1185Ser)
c.3441A>T (p.Arg1147Ser)
n.3522A>T
c.3217A>T (p.Thr1073Ser)
c.3628A>T (p.Thr1210Ser)
c.*3270A>T (n.*3270A>T)
n.3653A>T
c.151+6869A>T (n.151+6869A>T)
c.773A>T (n.773A>T)
c.1084A>T (p.Thr362Ser)
c.3550A>T (p.Thr1184Ser)
c.656-661A>T (n.656-661A>T)
c.3481A>T (p.Thr1161Ser)
c.3544A>T (p.Thr1182Ser)
c.3532A>T (p.Thr1178Ser)
2g.144389543T>CCA348698990ZEB2c.*3402A>G (n.*3402A>G)
c.2776A>G (p.Thr926Ala)
c.3553A>G (p.Thr1185Ala)
c.3441A>G (p.Arg1147=)
n.3522A>G
c.3217A>G (p.Thr1073Ala)
c.3628A>G (p.Thr1210Ala)
c.*3270A>G (n.*3270A>G)
n.3653A>G
c.151+6869A>G (n.151+6869A>G)
c.773A>G (n.773A>G)
c.1084A>G (p.Thr362Ala)
c.3550A>G (p.Thr1184Ala)
c.656-661A>G (n.656-661A>G)
c.3481A>G (p.Thr1161Ala)
c.3544A>G (p.Thr1182Ala)
c.3532A>G (p.Thr1178Ala)
2g.144389543T>GCA348698991ZEB2c.*3402A>C (n.*3402A>C)
c.2776A>C (p.Thr926Pro)
c.3553A>C (p.Thr1185Pro)
c.3441A>C (p.Arg1147Ser)
n.3522A>C
c.3217A>C (p.Thr1073Pro)
c.3628A>C (p.Thr1210Pro)
c.*3270A>C (n.*3270A>C)
n.3653A>C
c.151+6869A>C (n.151+6869A>C)
c.773A>C (n.773A>C)
c.1084A>C (p.Thr362Pro)
c.3550A>C (p.Thr1184Pro)
c.656-661A>C (n.656-661A>C)
c.3481A>C (p.Thr1161Pro)
c.3544A>C (p.Thr1182Pro)
c.3532A>C (p.Thr1178Pro)
 COSMIC
2g.144389544C>ACA348698994ZEB2c.*3401G>T (n.*3401G>T)
c.2775G>T (p.Glu925Asp)
c.3552G>T (p.Glu1184Asp)
c.3440G>T (p.Arg1147Ile)
n.3521G>T
c.3216G>T (p.Glu1072Asp)
c.3627G>T (p.Glu1209Asp)
c.*3269G>T (n.*3269G>T)
n.3652G>T
c.151+6868G>T (n.151+6868G>T)
c.772G>T (n.772G>T)
c.1083G>T (p.Glu361Asp)
c.3549G>T (p.Glu1183Asp)
c.656-662G>T (n.656-662G>T)
c.3480G>T (p.Glu1160Asp)
c.3543G>T (p.Glu1181Asp)
c.3531G>T (p.Glu1177Asp)
2g.144389544C=CA1294881243ZEB2c.*3401G= (n.*3401G=)
c.2775G= (p.Glu925=)
c.3552G= (p.Glu1184=)
c.3440G= (p.Arg1147=)
n.3521G=
c.3216G= (p.Glu1072=)
c.3627G= (p.Glu1209=)
c.*3269G= (n.*3269G=)
n.3652G=
c.151+6868G= (n.151+6868G=)
c.772G= (n.772G=)
c.1083G= (p.Glu361=)
c.3549G= (p.Glu1183=)
c.656-662G= (n.656-662G=)
c.3480G= (p.Glu1160=)
c.3543G= (p.Glu1181=)
c.3531G= (p.Glu1177=)
2g.144389544C>GCA348698996ZEB2c.*3401G>C (n.*3401G>C)
c.2775G>C (p.Glu925Asp)
c.3552G>C (p.Glu1184Asp)
c.3440G>C (p.Arg1147Thr)
n.3521G>C
c.3216G>C (p.Glu1072Asp)
c.3627G>C (p.Glu1209Asp)
c.*3269G>C (n.*3269G>C)
n.3652G>C
c.151+6868G>C (n.151+6868G>C)
c.772G>C (n.772G>C)
c.1083G>C (p.Glu361Asp)
c.3549G>C (p.Glu1183Asp)
c.656-662G>C (n.656-662G>C)
c.3480G>C (p.Glu1160Asp)
c.3543G>C (p.Glu1181Asp)
c.3531G>C (p.Glu1177Asp)
 gnomAD v4
2g.144389544C>TCA429441072ZEB2c.*3401G>A (n.*3401G>A)
c.2775G>A (p.Glu925=)
c.3552G>A (p.Glu1184=)
c.3440G>A (p.Arg1147Lys)
n.3521G>A
c.3216G>A (p.Glu1072=)
c.3627G>A (p.Glu1209=)
c.*3269G>A (n.*3269G>A)
n.3652G>A
c.151+6868G>A (n.151+6868G>A)
c.772G>A (n.772G>A)
c.1083G>A (p.Glu361=)
c.3549G>A (p.Glu1183=)
c.656-662G>A (n.656-662G>A)
c.3480G>A (p.Glu1160=)
c.3543G>A (p.Glu1181=)
c.3531G>A (p.Glu1177=)
 ClinVar dbSNP gnomAD v4
2g.144389544_144389547delinsCTCTCA1294881242ZEB2c.*3398_*3401delinsAGAG (n.*3398_*3401delinsAGAG)
c.2772_2775delinsAGAG (p.Glu924=)
c.3549_3552delinsAGAG (p.Glu1183=)
c.3437_3440delinsAGAG (p.Lys1146=)
n.3518_3521delinsAGAG
c.3213_3216delinsAGAG (p.Glu1071=)
c.3624_3627delinsAGAG (p.Glu1208=)
c.*3266_*3269delinsAGAG (n.*3266_*3269delinsAGAG)
n.3649_3652delinsAGAG
c.151+6865_151+6868delinsAGAG (n.151+6865_151+6868delinsAGAG)
c.769_772delinsAGAG (n.769_772delinsAGAG)
c.1080_1083delinsAGAG (p.Glu360=)
c.3546_3549delinsAGAG (p.Glu1182=)
c.656-665_656-662delinsAGAG (n.656-665_656-662delinsAGAG)
c.3477_3480delinsAGAG (p.Glu1159=)
c.3540_3543delinsAGAG (p.Glu1180=)
c.3528_3531delinsAGAG (p.Glu1176=)
2g.144389545T>ACA348699005ZEB2c.*3400A>T (n.*3400A>T)
c.2774A>T (p.Glu925Val)
c.3551A>T (p.Glu1184Val)
c.3439A>T (p.Arg1147Ter)
n.3520A>T
c.3215A>T (p.Glu1072Val)
c.3626A>T (p.Glu1209Val)
c.*3268A>T (n.*3268A>T)
n.3651A>T
c.151+6867A>T (n.151+6867A>T)
c.771A>T (n.771A>T)
c.1082A>T (p.Glu361Val)
c.3548A>T (p.Glu1183Val)
c.656-663A>T (n.656-663A>T)
c.3479A>T (p.Glu1160Val)
c.3542A>T (p.Glu1181Val)
c.3530A>T (p.Glu1177Val)
2g.144389545T>CCA348699002ZEB2c.*3400A>G (n.*3400A>G)
c.2774A>G (p.Glu925Gly)
c.3551A>G (p.Glu1184Gly)
c.3439A>G (p.Arg1147Gly)
n.3520A>G
c.3215A>G (p.Glu1072Gly)
c.3626A>G (p.Glu1209Gly)
c.*3268A>G (n.*3268A>G)
n.3651A>G
c.151+6867A>G (n.151+6867A>G)
c.771A>G (n.771A>G)
c.1082A>G (p.Glu361Gly)
c.3548A>G (p.Glu1183Gly)
c.656-663A>G (n.656-663A>G)
c.3479A>G (p.Glu1160Gly)
c.3542A>G (p.Glu1181Gly)
c.3530A>G (p.Glu1177Gly)
2g.144389545T>GCA348699000ZEB2c.*3400A>C (n.*3400A>C)
c.2774A>C (p.Glu925Ala)
c.3551A>C (p.Glu1184Ala)
c.3439A>C (p.Arg1147=)
n.3520A>C
c.3215A>C (p.Glu1072Ala)
c.3626A>C (p.Glu1209Ala)
c.*3268A>C (n.*3268A>C)
n.3651A>C
c.151+6867A>C (n.151+6867A>C)
c.771A>C (n.771A>C)
c.1082A>C (p.Glu361Ala)
c.3548A>C (p.Glu1183Ala)
c.656-663A>C (n.656-663A>C)
c.3479A>C (p.Glu1160Ala)
c.3542A>C (p.Glu1181Ala)
c.3530A>C (p.Glu1177Ala)
2g.144389550_144389552delCA1898104ZEB2c.*3398_*3400del (n.*3398_*3400del)
c.2772_2774del (p.Glu925del)
c.3549_3551del (p.Glu1184del)
c.3437_3439del (p.Lys1146del)
n.3518_3520del
c.3213_3215del (p.Glu1072del)
c.3624_3626del (p.Glu1209del)
c.*3266_*3268del (n.*3266_*3268del)
n.3649_3651del
c.151+6865_151+6867del (n.151+6865_151+6867del)
c.769_771del (n.769_771del)
c.1080_1082del (p.Glu361del)
c.3546_3548del (p.Glu1183del)
c.656-665_656-663del (n.656-665_656-663del)
c.3477_3479del (p.Glu1160del)
c.3540_3542del (p.Glu1181del)
c.3528_3530del (p.Glu1177del)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
2g.144389546C>ACA348699008ZEB2c.*3399G>T (n.*3399G>T)
c.2773G>T (p.Glu925Ter)
c.3550G>T (p.Glu1184Ter)
c.3438G>T (p.Lys1146Asn)
n.3519G>T
c.3214G>T (p.Glu1072Ter)
c.3625G>T (p.Glu1209Ter)
c.*3267G>T (n.*3267G>T)
n.3650G>T
c.151+6866G>T (n.151+6866G>T)
c.770G>T (n.770G>T)
c.1081G>T (p.Glu361Ter)
c.3547G>T (p.Glu1183Ter)
c.656-664G>T (n.656-664G>T)
c.3478G>T (p.Glu1160Ter)
c.3541G>T (p.Glu1181Ter)
c.3529G>T (p.Glu1177Ter)
2g.144389546C>GCA348699010ZEB2c.*3399G>C (n.*3399G>C)
c.2773G>C (p.Glu925Gln)
c.3550G>C (p.Glu1184Gln)
c.3438G>C (p.Lys1146Asn)
n.3519G>C
c.3214G>C (p.Glu1072Gln)
c.3625G>C (p.Glu1209Gln)
c.*3267G>C (n.*3267G>C)
n.3650G>C
c.151+6866G>C (n.151+6866G>C)
c.770G>C (n.770G>C)
c.1081G>C (p.Glu361Gln)
c.3547G>C (p.Glu1183Gln)
c.656-664G>C (n.656-664G>C)
c.3478G>C (p.Glu1160Gln)
c.3541G>C (p.Glu1181Gln)
c.3529G>C (p.Glu1177Gln)
2g.144389546C>TCA348699012ZEB2c.*3399G>A (n.*3399G>A)
c.2773G>A (p.Glu925Lys)
c.3550G>A (p.Glu1184Lys)
c.3438G>A (p.Lys1146=)
n.3519G>A
c.3214G>A (p.Glu1072Lys)
c.3625G>A (p.Glu1209Lys)
c.*3267G>A (n.*3267G>A)
n.3650G>A
c.151+6866G>A (n.151+6866G>A)
c.770G>A (n.770G>A)
c.1081G>A (p.Glu361Lys)
c.3547G>A (p.Glu1183Lys)
c.656-664G>A (n.656-664G>A)
c.3478G>A (p.Glu1160Lys)
c.3541G>A (p.Glu1181Lys)
c.3529G>A (p.Glu1177Lys)
2g.144389547T>ACA348699015ZEB2c.*3398A>T (n.*3398A>T)
c.2772A>T (p.Glu924Asp)
c.3549A>T (p.Glu1183Asp)
c.3437A>T (p.Lys1146Met)
n.3518A>T
c.3213A>T (p.Glu1071Asp)
c.3624A>T (p.Glu1208Asp)
c.*3266A>T (n.*3266A>T)
n.3649A>T
c.151+6865A>T (n.151+6865A>T)
c.769A>T (n.769A>T)
c.1080A>T (p.Glu360Asp)
c.3546A>T (p.Glu1182Asp)
c.656-665A>T (n.656-665A>T)
c.3477A>T (p.Glu1159Asp)
c.3540A>T (p.Glu1180Asp)
c.3528A>T (p.Glu1176Asp)
2g.144389547T>CCA429441073ZEB2c.*3398A>G (n.*3398A>G)
c.2772A>G (p.Glu924=)
c.3549A>G (p.Glu1183=)
c.3437A>G (p.Lys1146Arg)
n.3518A>G
c.3213A>G (p.Glu1071=)
c.3624A>G (p.Glu1208=)
c.*3266A>G (n.*3266A>G)
n.3649A>G
c.151+6865A>G (n.151+6865A>G)
c.769A>G (n.769A>G)
c.1080A>G (p.Glu360=)
c.3546A>G (p.Glu1182=)
c.656-665A>G (n.656-665A>G)
c.3477A>G (p.Glu1159=)
c.3540A>G (p.Glu1180=)
c.3528A>G (p.Glu1176=)
 dbSNP gnomAD v2 gnomAD v4
2g.144389547T>GCA348699017ZEB2c.*3398A>C (n.*3398A>C)
c.2772A>C (p.Glu924Asp)
c.3549A>C (p.Glu1183Asp)
c.3437A>C (p.Lys1146Thr)
n.3518A>C
c.3213A>C (p.Glu1071Asp)
c.3624A>C (p.Glu1208Asp)
c.*3266A>C (n.*3266A>C)
n.3649A>C
c.151+6865A>C (n.151+6865A>C)
c.769A>C (n.769A>C)
c.1080A>C (p.Glu360Asp)
c.3546A>C (p.Glu1182Asp)
c.656-665A>C (n.656-665A>C)
c.3477A>C (p.Glu1159Asp)
c.3540A>C (p.Glu1180Asp)
c.3528A>C (p.Glu1176Asp)
2g.144389547T=CA1294881244ZEB2c.*3398A= (n.*3398A=)
c.2772A= (p.Glu924=)
c.3549A= (p.Glu1183=)
c.3437A= (p.Lys1146=)
n.3518A=
c.3213A= (p.Glu1071=)
c.3624A= (p.Glu1208=)
c.*3266A= (n.*3266A=)
n.3649A=
c.151+6865A= (n.151+6865A=)
c.769A= (n.769A=)
c.1080A= (p.Glu360=)
c.3546A= (p.Glu1182=)
c.656-665A= (n.656-665A=)
c.3477A= (p.Glu1159=)
c.3540A= (p.Glu1180=)
c.3528A= (p.Glu1176=)
2g.144389548T>ACA348699019ZEB2c.*3397A>T (n.*3397A>T)
c.2771A>T (p.Glu924Val)
c.3548A>T (p.Glu1183Val)
c.3436A>T (p.Lys1146Ter)
n.3517A>T
c.3212A>T (p.Glu1071Val)
c.3623A>T (p.Glu1208Val)
c.*3265A>T (n.*3265A>T)
n.3648A>T
c.151+6864A>T (n.151+6864A>T)
c.768A>T (n.768A>T)
c.1079A>T (p.Glu360Val)
c.3545A>T (p.Glu1182Val)
c.656-666A>T (n.656-666A>T)
c.3476A>T (p.Glu1159Val)
c.3539A>T (p.Glu1180Val)
c.3527A>T (p.Glu1176Val)
 dbSNP
2g.144389548T>CCA57549230ZEB2c.*3397A>G (n.*3397A>G)
c.2771A>G (p.Glu924Gly)
c.3548A>G (p.Glu1183Gly)
c.3436A>G (p.Lys1146Glu)
n.3517A>G
c.3212A>G (p.Glu1071Gly)
c.3623A>G (p.Glu1208Gly)
c.*3265A>G (n.*3265A>G)
n.3648A>G
c.151+6864A>G (n.151+6864A>G)
c.768A>G (n.768A>G)
c.1079A>G (p.Glu360Gly)
c.3545A>G (p.Glu1182Gly)
c.656-666A>G (n.656-666A>G)
c.3476A>G (p.Glu1159Gly)
c.3539A>G (p.Glu1180Gly)
c.3527A>G (p.Glu1176Gly)
 dbSNP
2g.144389548T>GCA348699023ZEB2c.*3397A>C (n.*3397A>C)
c.2771A>C (p.Glu924Ala)
c.3548A>C (p.Glu1183Ala)
c.3436A>C (p.Lys1146Gln)
n.3517A>C
c.3212A>C (p.Glu1071Ala)
c.3623A>C (p.Glu1208Ala)
c.*3265A>C (n.*3265A>C)
n.3648A>C
c.151+6864A>C (n.151+6864A>C)
c.768A>C (n.768A>C)
c.1079A>C (p.Glu360Ala)
c.3545A>C (p.Glu1182Ala)
c.656-666A>C (n.656-666A>C)
c.3476A>C (p.Glu1159Ala)
c.3539A>C (p.Glu1180Ala)
c.3527A>C (p.Glu1176Ala)
2g.144389548T=CA1294881245ZEB2c.*3397A= (n.*3397A=)
c.2771A= (p.Glu924=)
c.3548A= (p.Glu1183=)
c.3436A= (p.Lys1146=)
n.3517A=
c.3212A= (p.Glu1071=)
c.3623A= (p.Glu1208=)
c.*3265A= (n.*3265A=)
n.3648A=
c.151+6864A= (n.151+6864A=)
c.768A= (n.768A=)
c.1079A= (p.Glu360=)
c.3545A= (p.Glu1182=)
c.656-666A= (n.656-666A=)
c.3476A= (p.Glu1159=)
c.3539A= (p.Glu1180=)
c.3527A= (p.Glu1176=)
2g.144389549C>ACA348699025ZEB2c.*3396G>T (n.*3396G>T)
c.2770G>T (p.Glu924Ter)
c.3547G>T (p.Glu1183Ter)
c.3435G>T (p.Lys1145Asn)
n.3516G>T
c.3211G>T (p.Glu1071Ter)
c.3622G>T (p.Glu1208Ter)
c.*3264G>T (n.*3264G>T)
n.3647G>T
c.151+6863G>T (n.151+6863G>T)
c.767G>T (n.767G>T)
c.1078G>T (p.Glu360Ter)
c.3544G>T (p.Glu1182Ter)
c.656-667G>T (n.656-667G>T)
c.3475G>T (p.Glu1159Ter)
c.3538G>T (p.Glu1180Ter)
c.3526G>T (p.Glu1176Ter)
2g.144389549C=CA1294881246ZEB2c.*3396G= (n.*3396G=)
c.2770G= (p.Glu924=)
c.3547G= (p.Glu1183=)
c.3435G= (p.Lys1145=)
n.3516G=
c.3211G= (p.Glu1071=)
c.3622G= (p.Glu1208=)
c.*3264G= (n.*3264G=)
n.3647G=
c.151+6863G= (n.151+6863G=)
c.767G= (n.767G=)
c.1078G= (p.Glu360=)
c.3544G= (p.Glu1182=)
c.656-667G= (n.656-667G=)
c.3475G= (p.Glu1159=)
c.3538G= (p.Glu1180=)
c.3526G= (p.Glu1176=)
2g.144389549C>GCA348699028ZEB2c.*3396G>C (n.*3396G>C)
c.2770G>C (p.Glu924Gln)
c.3547G>C (p.Glu1183Gln)
c.3435G>C (p.Lys1145Asn)
n.3516G>C
c.3211G>C (p.Glu1071Gln)
c.3622G>C (p.Glu1208Gln)
c.*3264G>C (n.*3264G>C)
n.3647G>C
c.151+6863G>C (n.151+6863G>C)
c.767G>C (n.767G>C)
c.1078G>C (p.Glu360Gln)
c.3544G>C (p.Glu1182Gln)
c.656-667G>C (n.656-667G>C)
c.3475G>C (p.Glu1159Gln)
c.3538G>C (p.Glu1180Gln)
c.3526G>C (p.Glu1176Gln)
 dbSNP
2g.144389549C>TCA348699030ZEB2c.*3396G>A (n.*3396G>A)
c.2770G>A (p.Glu924Lys)
c.3547G>A (p.Glu1183Lys)
c.3435G>A (p.Lys1145=)
n.3516G>A
c.3211G>A (p.Glu1071Lys)
c.3622G>A (p.Glu1208Lys)
c.*3264G>A (n.*3264G>A)
n.3647G>A
c.151+6863G>A (n.151+6863G>A)
c.767G>A (n.767G>A)
c.1078G>A (p.Glu360Lys)
c.3544G>A (p.Glu1182Lys)
c.656-667G>A (n.656-667G>A)
c.3475G>A (p.Glu1159Lys)
c.3538G>A (p.Glu1180Lys)
c.3526G>A (p.Glu1176Lys)
 COSMIC
2g.144389550T>ACA348699033ZEB2c.*3395A>T (n.*3395A>T)
c.2769A>T (p.Glu923Asp)
c.3546A>T (p.Glu1182Asp)
c.3434A>T (p.Lys1145Met)
n.3515A>T
c.3210A>T (p.Glu1070Asp)
c.3621A>T (p.Glu1207Asp)
c.*3263A>T (n.*3263A>T)
n.3646A>T
c.151+6862A>T (n.151+6862A>T)
c.766A>T (n.766A>T)
c.1077A>T (p.Glu359Asp)
c.3543A>T (p.Glu1181Asp)
c.656-668A>T (n.656-668A>T)
c.3474A>T (p.Glu1158Asp)
c.3537A>T (p.Glu1179Asp)
c.3525A>T (p.Glu1175Asp)
2g.144389550T>CCA429441074ZEB2c.*3395A>G (n.*3395A>G)
c.2769A>G (p.Glu923=)
c.3546A>G (p.Glu1182=)
c.3434A>G (p.Lys1145Arg)
n.3515A>G
c.3210A>G (p.Glu1070=)
c.3621A>G (p.Glu1207=)
c.*3263A>G (n.*3263A>G)
n.3646A>G
c.151+6862A>G (n.151+6862A>G)
c.766A>G (n.766A>G)
c.1077A>G (p.Glu359=)
c.3543A>G (p.Glu1181=)
c.656-668A>G (n.656-668A>G)
c.3474A>G (p.Glu1158=)
c.3537A>G (p.Glu1179=)
c.3525A>G (p.Glu1175=)
 gnomAD v4
2g.144389550T>GCA348699034ZEB2c.*3395A>C (n.*3395A>C)
c.2769A>C (p.Glu923Asp)
c.3546A>C (p.Glu1182Asp)
c.3434A>C (p.Lys1145Thr)
n.3515A>C
c.3210A>C (p.Glu1070Asp)
c.3621A>C (p.Glu1207Asp)
c.*3263A>C (n.*3263A>C)
n.3646A>C
c.151+6862A>C (n.151+6862A>C)
c.766A>C (n.766A>C)
c.1077A>C (p.Glu359Asp)
c.3543A>C (p.Glu1181Asp)
c.656-668A>C (n.656-668A>C)
c.3474A>C (p.Glu1158Asp)
c.3537A>C (p.Glu1179Asp)
c.3525A>C (p.Glu1175Asp)
2g.144389551T>ACA348699039ZEB2c.*3394A>T (n.*3394A>T)
c.2768A>T (p.Glu923Val)
c.3545A>T (p.Glu1182Val)
c.3433A>T (p.Lys1145Ter)
n.3514A>T
c.3209A>T (p.Glu1070Val)
c.3620A>T (p.Glu1207Val)
c.*3262A>T (n.*3262A>T)
n.3645A>T
c.151+6861A>T (n.151+6861A>T)
c.765A>T (n.765A>T)
c.1076A>T (p.Glu359Val)
c.3542A>T (p.Glu1181Val)
c.656-669A>T (n.656-669A>T)
c.3473A>T (p.Glu1158Val)
c.3536A>T (p.Glu1179Val)
c.3524A>T (p.Glu1175Val)
2g.144389551T>CCA348699041ZEB2c.*3394A>G (n.*3394A>G)
c.2768A>G (p.Glu923Gly)
c.3545A>G (p.Glu1182Gly)
c.3433A>G (p.Lys1145Glu)
n.3514A>G
c.3209A>G (p.Glu1070Gly)
c.3620A>G (p.Glu1207Gly)
c.*3262A>G (n.*3262A>G)
n.3645A>G
c.151+6861A>G (n.151+6861A>G)
c.765A>G (n.765A>G)
c.1076A>G (p.Glu359Gly)
c.3542A>G (p.Glu1181Gly)
c.656-669A>G (n.656-669A>G)
c.3473A>G (p.Glu1158Gly)
c.3536A>G (p.Glu1179Gly)
c.3524A>G (p.Glu1175Gly)
2g.144389551T>GCA348699037ZEB2c.*3394A>C (n.*3394A>C)
c.2768A>C (p.Glu923Ala)
c.3545A>C (p.Glu1182Ala)
c.3433A>C (p.Lys1145Gln)
n.3514A>C
c.3209A>C (p.Glu1070Ala)
c.3620A>C (p.Glu1207Ala)
c.*3262A>C (n.*3262A>C)
n.3645A>C
c.151+6861A>C (n.151+6861A>C)
c.765A>C (n.765A>C)
c.1076A>C (p.Glu359Ala)
c.3542A>C (p.Glu1181Ala)
c.656-669A>C (n.656-669A>C)
c.3473A>C (p.Glu1158Ala)
c.3536A>C (p.Glu1179Ala)
c.3524A>C (p.Glu1175Ala)
2g.144389551_144389552delinsTCCA1294881247ZEB2c.*3393_*3394delinsGA (n.*3393_*3394delinsGA)
c.2767_2768delinsGA (p.Glu923=)
c.3544_3545delinsGA (p.Glu1182=)
c.3432_3433delinsGA (p.Met1144=)
n.3513_3514delinsGA
c.3208_3209delinsGA (p.Glu1070=)
c.3619_3620delinsGA (p.Glu1207=)
c.*3261_*3262delinsGA (n.*3261_*3262delinsGA)
n.3644_3645delinsGA
c.151+6860_151+6861delinsGA (n.151+6860_151+6861delinsGA)
c.764_765delinsGA (n.764_765delinsGA)
c.1075_1076delinsGA (p.Glu359=)
c.3541_3542delinsGA (p.Glu1181=)
c.656-670_656-669delinsGA (n.656-670_656-669delinsGA)
c.3472_3473delinsGA (p.Glu1158=)
c.3535_3536delinsGA (p.Glu1179=)
c.3523_3524delinsGA (p.Glu1175=)
2g.144389552delCA235588ZEB2c.*3393del (n.*3393del)
c.2767del (p.Glu923LysfsTer?)
c.3544del (p.Glu1182LysfsTer?)
c.3432del (p.Met1144IlefsTer12)
n.3513del
c.3208del (p.Glu1070LysfsTer?)
c.3619del (p.Glu1207LysfsTer?)
c.*3261del (n.*3261del)
n.3644del
c.151+6860del (n.151+6860del)
c.764del (n.764del)
c.1075del (p.Glu359LysfsTer?)
c.3541del (p.Glu1181LysfsTer?)
c.656-670del (n.656-670del)
c.3472del (p.Glu1158LysfsTer?)
c.3535del (p.Glu1179LysfsTer?)
c.3523del (p.Glu1175LysfsTer?)
 ClinVar dbSNP
2g.144389552C>ACA348699047ZEB2c.*3393G>T (n.*3393G>T)
c.2767G>T (p.Glu923Ter)
c.3544G>T (p.Glu1182Ter)
c.3432G>T (p.Met1144Ile)
n.3513G>T
c.3208G>T (p.Glu1070Ter)
c.3619G>T (p.Glu1207Ter)
c.*3261G>T (n.*3261G>T)
n.3644G>T
c.151+6860G>T (n.151+6860G>T)
c.764G>T (n.764G>T)
c.1075G>T (p.Glu359Ter)
c.3541G>T (p.Glu1181Ter)
c.656-670G>T (n.656-670G>T)
c.3472G>T (p.Glu1158Ter)
c.3535G>T (p.Glu1179Ter)
c.3523G>T (p.Glu1175Ter)
2g.144389552C>GCA348699045ZEB2c.*3393G>C (n.*3393G>C)
c.2767G>C (p.Glu923Gln)
c.3544G>C (p.Glu1182Gln)
c.3432G>C (p.Met1144Ile)
n.3513G>C
c.3208G>C (p.Glu1070Gln)
c.3619G>C (p.Glu1207Gln)
c.*3261G>C (n.*3261G>C)
n.3644G>C
c.151+6860G>C (n.151+6860G>C)
c.764G>C (n.764G>C)
c.1075G>C (p.Glu359Gln)
c.3541G>C (p.Glu1181Gln)
c.656-670G>C (n.656-670G>C)
c.3472G>C (p.Glu1158Gln)
c.3535G>C (p.Glu1179Gln)
c.3523G>C (p.Glu1175Gln)
2g.144389552C>TCA348699050ZEB2c.*3393G>A (n.*3393G>A)
c.2767G>A (p.Glu923Lys)
c.3544G>A (p.Glu1182Lys)
c.3432G>A (p.Met1144Ile)
n.3513G>A
c.3208G>A (p.Glu1070Lys)
c.3619G>A (p.Glu1207Lys)
c.*3261G>A (n.*3261G>A)
n.3644G>A
c.151+6860G>A (n.151+6860G>A)
c.764G>A (n.764G>A)
c.1075G>A (p.Glu359Lys)
c.3541G>A (p.Glu1181Lys)
c.656-670G>A (n.656-670G>A)
c.3472G>A (p.Glu1158Lys)
c.3535G>A (p.Glu1179Lys)
c.3523G>A (p.Glu1175Lys)
2g.144389553A=CA1294881248ZEB2c.*3392T= (n.*3392T=)
c.2766T= (p.Asp922=)
c.3543T= (p.Asp1181=)
c.3431T= (p.Met1144=)
n.3512T=
c.3207T= (p.Asp1069=)
c.3618T= (p.Asp1206=)
c.*3260T= (n.*3260T=)
n.3643T=
c.151+6859T= (n.151+6859T=)
c.763T= (n.763T=)
c.1074T= (p.Asp358=)
c.3540T= (p.Asp1180=)
c.656-671T= (n.656-671T=)
c.3471T= (p.Asp1157=)
c.3534T= (p.Asp1178=)
c.3522T= (p.Asp1174=)
2g.144389553A>CCA348699051ZEB2c.*3392T>G (n.*3392T>G)
c.2766T>G (p.Asp922Glu)
c.3543T>G (p.Asp1181Glu)
c.3431T>G (p.Met1144Arg)
n.3512T>G
c.3207T>G (p.Asp1069Glu)
c.3618T>G (p.Asp1206Glu)
c.*3260T>G (n.*3260T>G)
n.3643T>G
c.151+6859T>G (n.151+6859T>G)
c.763T>G (n.763T>G)
c.1074T>G (p.Asp358Glu)
c.3540T>G (p.Asp1180Glu)
c.656-671T>G (n.656-671T>G)
c.3471T>G (p.Asp1157Glu)
c.3534T>G (p.Asp1178Glu)
c.3522T>G (p.Asp1174Glu)
2g.144389553A>GCA429441075ZEB2c.*3392T>C (n.*3392T>C)
c.2766T>C (p.Asp922=)
c.3543T>C (p.Asp1181=)
c.3431T>C (p.Met1144Thr)
n.3512T>C
c.3207T>C (p.Asp1069=)
c.3618T>C (p.Asp1206=)
c.*3260T>C (n.*3260T>C)
n.3643T>C
c.151+6859T>C (n.151+6859T>C)
c.763T>C (n.763T>C)
c.1074T>C (p.Asp358=)
c.3540T>C (p.Asp1180=)
c.656-671T>C (n.656-671T>C)
c.3471T>C (p.Asp1157=)
c.3534T>C (p.Asp1178=)
c.3522T>C (p.Asp1174=)
2g.144389553A>TCA348699052ZEB2c.*3392T>A (n.*3392T>A)
c.2766T>A (p.Asp922Glu)
c.3543T>A (p.Asp1181Glu)
c.3431T>A (p.Met1144Lys)
n.3512T>A
c.3207T>A (p.Asp1069Glu)
c.3618T>A (p.Asp1206Glu)
c.*3260T>A (n.*3260T>A)
n.3643T>A
c.151+6859T>A (n.151+6859T>A)
c.763T>A (n.763T>A)
c.1074T>A (p.Asp358Glu)
c.3540T>A (p.Asp1180Glu)
c.656-671T>A (n.656-671T>A)
c.3471T>A (p.Asp1157Glu)
c.3534T>A (p.Asp1178Glu)
c.3522T>A (p.Asp1174Glu)
 dbSNP
2g.144389554T>ACA348699053ZEB2c.*3391A>T (n.*3391A>T)
c.2765A>T (p.Asp922Val)
c.3542A>T (p.Asp1181Val)
c.3430A>T (p.Met1144Leu)
n.3511A>T
c.3206A>T (p.Asp1069Val)
c.3617A>T (p.Asp1206Val)
c.*3259A>T (n.*3259A>T)
n.3642A>T
c.151+6858A>T (n.151+6858A>T)
c.762A>T (n.762A>T)
c.1073A>T (p.Asp358Val)
c.3539A>T (p.Asp1180Val)
c.656-672A>T (n.656-672A>T)
c.3470A>T (p.Asp1157Val)
c.3533A>T (p.Asp1178Val)
c.3521A>T (p.Asp1174Val)
2g.144389554T>CCA348699054ZEB2c.*3391A>G (n.*3391A>G)
c.2765A>G (p.Asp922Gly)
c.3542A>G (p.Asp1181Gly)
c.3430A>G (p.Met1144Val)
n.3511A>G
c.3206A>G (p.Asp1069Gly)
c.3617A>G (p.Asp1206Gly)
c.*3259A>G (n.*3259A>G)
n.3642A>G
c.151+6858A>G (n.151+6858A>G)
c.762A>G (n.762A>G)
c.1073A>G (p.Asp358Gly)
c.3539A>G (p.Asp1180Gly)
c.656-672A>G (n.656-672A>G)
c.3470A>G (p.Asp1157Gly)
c.3533A>G (p.Asp1178Gly)
c.3521A>G (p.Asp1174Gly)
2g.144389554T>GCA348699055ZEB2c.*3391A>C (n.*3391A>C)
c.2765A>C (p.Asp922Ala)
c.3542A>C (p.Asp1181Ala)
c.3430A>C (p.Met1144Leu)
n.3511A>C
c.3206A>C (p.Asp1069Ala)
c.3617A>C (p.Asp1206Ala)
c.*3259A>C (n.*3259A>C)
n.3642A>C
c.151+6858A>C (n.151+6858A>C)
c.762A>C (n.762A>C)
c.1073A>C (p.Asp358Ala)
c.3539A>C (p.Asp1180Ala)
c.656-672A>C (n.656-672A>C)
c.3470A>C (p.Asp1157Ala)
c.3533A>C (p.Asp1178Ala)
c.3521A>C (p.Asp1174Ala)
2g.144389555C>ACA348699056ZEB2c.*3390G>T (n.*3390G>T)
c.2764G>T (p.Asp922Tyr)
c.3541G>T (p.Asp1181Tyr)
c.3429G>T (p.Glu1143Asp)
n.3510G>T
c.3205G>T (p.Asp1069Tyr)
c.3616G>T (p.Asp1206Tyr)
c.*3258G>T (n.*3258G>T)
n.3641G>T
c.151+6857G>T (n.151+6857G>T)
c.761G>T (n.761G>T)
c.1072G>T (p.Asp358Tyr)
c.3538G>T (p.Asp1180Tyr)
c.656-673G>T (n.656-673G>T)
c.3469G>T (p.Asp1157Tyr)
c.3532G>T (p.Asp1178Tyr)
c.3520G>T (p.Asp1174Tyr)
2g.144389555C>GCA348699057ZEB2c.*3390G>C (n.*3390G>C)
c.2764G>C (p.Asp922His)
c.3541G>C (p.Asp1181His)
c.3429G>C (p.Glu1143Asp)
n.3510G>C
c.3205G>C (p.Asp1069His)
c.3616G>C (p.Asp1206His)
c.*3258G>C (n.*3258G>C)
n.3641G>C
c.151+6857G>C (n.151+6857G>C)
c.761G>C (n.761G>C)
c.1072G>C (p.Asp358His)
c.3538G>C (p.Asp1180His)
c.656-673G>C (n.656-673G>C)
c.3469G>C (p.Asp1157His)
c.3532G>C (p.Asp1178His)
c.3520G>C (p.Asp1174His)
2g.144389555C>TCA348699058ZEB2c.*3390G>A (n.*3390G>A)
c.2764G>A (p.Asp922Asn)
c.3541G>A (p.Asp1181Asn)
c.3429G>A (p.Glu1143=)
n.3510G>A
c.3205G>A (p.Asp1069Asn)
c.3616G>A (p.Asp1206Asn)
c.*3258G>A (n.*3258G>A)
n.3641G>A
c.151+6857G>A (n.151+6857G>A)
c.761G>A (n.761G>A)
c.1072G>A (p.Asp358Asn)
c.3538G>A (p.Asp1180Asn)
c.656-673G>A (n.656-673G>A)
c.3469G>A (p.Asp1157Asn)
c.3532G>A (p.Asp1178Asn)
c.3520G>A (p.Asp1174Asn)
2g.144389556T>ACA429441076ZEB2c.*3389A>T (n.*3389A>T)
c.2763A>T (p.Arg921=)
c.3540A>T (p.Arg1180=)
c.3428A>T (p.Glu1143Val)
n.3509A>T
c.3204A>T (p.Arg1068=)
c.3615A>T (p.Arg1205=)
c.*3257A>T (n.*3257A>T)
n.3640A>T
c.151+6856A>T (n.151+6856A>T)
c.760A>T (n.760A>T)
c.1071A>T (p.Arg357=)
c.3537A>T (p.Arg1179=)
c.656-674A>T (n.656-674A>T)
c.3468A>T (p.Arg1156=)
c.3531A>T (p.Arg1177=)
c.3519A>T (p.Arg1173=)
2g.144389556T>CCA429441077ZEB2c.*3389A>G (n.*3389A>G)
c.2763A>G (p.Arg921=)
c.3540A>G (p.Arg1180=)
c.3428A>G (p.Glu1143Gly)
n.3509A>G
c.3204A>G (p.Arg1068=)
c.3615A>G (p.Arg1205=)
c.*3257A>G (n.*3257A>G)
n.3640A>G
c.151+6856A>G (n.151+6856A>G)
c.760A>G (n.760A>G)
c.1071A>G (p.Arg357=)
c.3537A>G (p.Arg1179=)
c.656-674A>G (n.656-674A>G)
c.3468A>G (p.Arg1156=)
c.3531A>G (p.Arg1177=)
c.3519A>G (p.Arg1173=)
2g.144389556T>GCA429441078ZEB2c.*3389A>C (n.*3389A>C)
c.2763A>C (p.Arg921=)
c.3540A>C (p.Arg1180=)
c.3428A>C (p.Glu1143Ala)
n.3509A>C
c.3204A>C (p.Arg1068=)
c.3615A>C (p.Arg1205=)
c.*3257A>C (n.*3257A>C)
n.3640A>C
c.151+6856A>C (n.151+6856A>C)
c.760A>C (n.760A>C)
c.1071A>C (p.Arg357=)
c.3537A>C (p.Arg1179=)
c.656-674A>C (n.656-674A>C)
c.3468A>C (p.Arg1156=)
c.3531A>C (p.Arg1177=)
c.3519A>C (p.Arg1173=)
2g.144389557C>ACA348699059ZEB2c.*3388G>T (n.*3388G>T)
c.2762G>T (p.Arg921Leu)
c.3539G>T (p.Arg1180Leu)
c.3427G>T (p.Glu1143Ter)
n.3508G>T
c.3203G>T (p.Arg1068Leu)
c.3614G>T (p.Arg1205Leu)
c.*3256G>T (n.*3256G>T)
n.3639G>T
c.151+6855G>T (n.151+6855G>T)
c.759G>T (n.759G>T)
c.1070G>T (p.Arg357Leu)
c.3536G>T (p.Arg1179Leu)
c.656-675G>T (n.656-675G>T)
c.3467G>T (p.Arg1156Leu)
c.3530G>T (p.Arg1177Leu)
c.3518G>T (p.Arg1173Leu)
2g.144389557C>GCA348699060ZEB2c.*3388G>C (n.*3388G>C)
c.2762G>C (p.Arg921Pro)
c.3539G>C (p.Arg1180Pro)
c.3427G>C (p.Glu1143Gln)
n.3508G>C
c.3203G>C (p.Arg1068Pro)
c.3614G>C (p.Arg1205Pro)
c.*3256G>C (n.*3256G>C)
n.3639G>C
c.151+6855G>C (n.151+6855G>C)
c.759G>C (n.759G>C)
c.1070G>C (p.Arg357Pro)
c.3536G>C (p.Arg1179Pro)
c.656-675G>C (n.656-675G>C)
c.3467G>C (p.Arg1156Pro)
c.3530G>C (p.Arg1177Pro)
c.3518G>C (p.Arg1173Pro)
2g.144389557C>TCA348699061ZEB2c.*3388G>A (n.*3388G>A)
c.2762G>A (p.Arg921Gln)
c.3539G>A (p.Arg1180Gln)
c.3427G>A (p.Glu1143Lys)
n.3508G>A
c.3203G>A (p.Arg1068Gln)
c.3614G>A (p.Arg1205Gln)
c.*3256G>A (n.*3256G>A)
n.3639G>A
c.151+6855G>A (n.151+6855G>A)
c.759G>A (n.759G>A)
c.1070G>A (p.Arg357Gln)
c.3536G>A (p.Arg1179Gln)
c.656-675G>A (n.656-675G>A)
c.3467G>A (p.Arg1156Gln)
c.3530G>A (p.Arg1177Gln)
c.3518G>A (p.Arg1173Gln)
 ClinVar gnomAD v4
2g.144389558G>ACA348699062ZEB2c.*3387C>T (n.*3387C>T)
c.2761C>T (p.Arg921Ter)
c.3538C>T (p.Arg1180Ter)
c.3426C>T (p.Tyr1142=)
n.3507C>T
c.3202C>T (p.Arg1068Ter)
c.3613C>T (p.Arg1205Ter)
c.*3255C>T (n.*3255C>T)
n.3638C>T
c.151+6854C>T (n.151+6854C>T)
c.758C>T (n.758C>T)
c.1069C>T (p.Arg357Ter)
c.3535C>T (p.Arg1179Ter)
c.656-676C>T (n.656-676C>T)
c.3466C>T (p.Arg1156Ter)
c.3529C>T (p.Arg1177Ter)
c.3517C>T (p.Arg1173Ter)
 gnomAD v4
2g.144389558G>CCA1898105ZEB2c.*3387C>G (n.*3387C>G)
c.2761C>G (p.Arg921Gly)
c.3538C>G (p.Arg1180Gly)
c.3426C>G (p.Tyr1142Ter)
n.3507C>G
c.3202C>G (p.Arg1068Gly)
c.3613C>G (p.Arg1205Gly)
c.*3255C>G (n.*3255C>G)
n.3638C>G
c.151+6854C>G (n.151+6854C>G)
c.758C>G (n.758C>G)
c.1069C>G (p.Arg357Gly)
c.3535C>G (p.Arg1179Gly)
c.656-676C>G (n.656-676C>G)
c.3466C>G (p.Arg1156Gly)
c.3529C>G (p.Arg1177Gly)
c.3517C>G (p.Arg1173Gly)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.144389558G=CA1294881249ZEB2c.*3387C= (n.*3387C=)
c.2761C= (p.Arg921=)
c.3538C= (p.Arg1180=)
c.3426C= (p.Tyr1142=)
n.3507C=
c.3202C= (p.Arg1068=)
c.3613C= (p.Arg1205=)
c.*3255C= (n.*3255C=)
n.3638C=
c.151+6854C= (n.151+6854C=)
c.758C= (n.758C=)
c.1069C= (p.Arg357=)
c.3535C= (p.Arg1179=)
c.656-676C= (n.656-676C=)
c.3466C= (p.Arg1156=)
c.3529C= (p.Arg1177=)
c.3517C= (p.Arg1173=)
2g.144389558G>TCA429441079ZEB2c.*3387C>A (n.*3387C>A)
c.2761C>A (p.Arg921=)
c.3538C>A (p.Arg1180=)
c.3426C>A (p.Tyr1142Ter)
n.3507C>A
c.3202C>A (p.Arg1068=)
c.3613C>A (p.Arg1205=)
c.*3255C>A (n.*3255C>A)
n.3638C>A
c.151+6854C>A (n.151+6854C>A)
c.758C>A (n.758C>A)
c.1069C>A (p.Arg357=)
c.3535C>A (p.Arg1179=)
c.656-676C>A (n.656-676C>A)
c.3466C>A (p.Arg1156=)
c.3529C>A (p.Arg1177=)
c.3517C>A (p.Arg1173=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.144389559T>ACA429441081ZEB2c.*3386A>T (n.*3386A>T)
c.2760A>T (p.Ile920=)
c.3537A>T (p.Ile1179=)
c.3425A>T (p.Tyr1142Phe)
n.3506A>T
c.3201A>T (p.Ile1067=)
c.3612A>T (p.Ile1204=)
c.*3254A>T (n.*3254A>T)
n.3637A>T
c.151+6853A>T (n.151+6853A>T)
c.757A>T (n.757A>T)
c.1068A>T (p.Ile356=)
c.3534A>T (p.Ile1178=)
c.656-677A>T (n.656-677A>T)
c.3465A>T (p.Ile1155=)
c.3528A>T (p.Ile1176=)
c.3516A>T (p.Ile1172=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.144389559T>CCA348699063ZEB2c.*3386A>G (n.*3386A>G)
c.2760A>G (p.Ile920Met)
c.3537A>G (p.Ile1179Met)
c.3425A>G (p.Tyr1142Cys)
n.3506A>G
c.3201A>G (p.Ile1067Met)
c.3612A>G (p.Ile1204Met)
c.*3254A>G (n.*3254A>G)
n.3637A>G
c.151+6853A>G (n.151+6853A>G)
c.757A>G (n.757A>G)
c.1068A>G (p.Ile356Met)
c.3534A>G (p.Ile1178Met)
c.656-677A>G (n.656-677A>G)
c.3465A>G (p.Ile1155Met)
c.3528A>G (p.Ile1176Met)
c.3516A>G (p.Ile1172Met)
2g.144389559T>GCA429441080ZEB2c.*3386A>C (n.*3386A>C)
c.2760A>C (p.Ile920=)
c.3537A>C (p.Ile1179=)
c.3425A>C (p.Tyr1142Ser)
n.3506A>C
c.3201A>C (p.Ile1067=)
c.3612A>C (p.Ile1204=)
c.*3254A>C (n.*3254A>C)
n.3637A>C
c.151+6853A>C (n.151+6853A>C)
c.757A>C (n.757A>C)
c.1068A>C (p.Ile356=)
c.3534A>C (p.Ile1178=)
c.656-677A>C (n.656-677A>C)
c.3465A>C (p.Ile1155=)
c.3528A>C (p.Ile1176=)
c.3516A>C (p.Ile1172=)
2g.144389559T=CA1294881250ZEB2c.*3386A= (n.*3386A=)
c.2760A= (p.Ile920=)
c.3537A= (p.Ile1179=)
c.3425A= (p.Tyr1142=)
n.3506A=
c.3201A= (p.Ile1067=)
c.3612A= (p.Ile1204=)
c.*3254A= (n.*3254A=)
n.3637A=
c.151+6853A= (n.151+6853A=)
c.757A= (n.757A=)
c.1068A= (p.Ile356=)
c.3534A= (p.Ile1178=)
c.656-677A= (n.656-677A=)
c.3465A= (p.Ile1155=)
c.3528A= (p.Ile1176=)
c.3516A= (p.Ile1172=)
2g.144389560A=CA1294881251ZEB2c.*3385T= (n.*3385T=)
c.2759T= (p.Ile920=)
c.3536T= (p.Ile1179=)
c.3424T= (p.Tyr1142=)
n.3505T=
c.3200T= (p.Ile1067=)
c.3611T= (p.Ile1204=)
c.*3253T= (n.*3253T=)
n.3636T=
c.151+6852T= (n.151+6852T=)
c.756T= (n.756T=)
c.1067T= (p.Ile356=)
c.3533T= (p.Ile1178=)
c.656-678T= (n.656-678T=)
c.3464T= (p.Ile1155=)
c.3527T= (p.Ile1176=)
c.3515T= (p.Ile1172=)
2g.144389560A>CCA348699064ZEB2c.*3385T>G (n.*3385T>G)
c.2759T>G (p.Ile920Arg)
c.3536T>G (p.Ile1179Arg)
c.3424T>G (p.Tyr1142Asp)
n.3505T>G
c.3200T>G (p.Ile1067Arg)
c.3611T>G (p.Ile1204Arg)
c.*3253T>G (n.*3253T>G)
n.3636T>G
c.151+6852T>G (n.151+6852T>G)
c.756T>G (n.756T>G)
c.1067T>G (p.Ile356Arg)
c.3533T>G (p.Ile1178Arg)
c.656-678T>G (n.656-678T>G)
c.3464T>G (p.Ile1155Arg)
c.3527T>G (p.Ile1176Arg)
c.3515T>G (p.Ile1172Arg)
2g.144389560A>GCA348699066ZEB2c.*3385T>C (n.*3385T>C)
c.2759T>C (p.Ile920Thr)
c.3536T>C (p.Ile1179Thr)
c.3424T>C (p.Tyr1142His)
n.3505T>C
c.3200T>C (p.Ile1067Thr)
c.3611T>C (p.Ile1204Thr)
c.*3253T>C (n.*3253T>C)
n.3636T>C
c.151+6852T>C (n.151+6852T>C)
c.756T>C (n.756T>C)
c.1067T>C (p.Ile356Thr)
c.3533T>C (p.Ile1178Thr)
c.656-678T>C (n.656-678T>C)
c.3464T>C (p.Ile1155Thr)
c.3527T>C (p.Ile1176Thr)
c.3515T>C (p.Ile1172Thr)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.144389560A>TCA348699065ZEB2c.*3385T>A (n.*3385T>A)
c.2759T>A (p.Ile920Lys)
c.3536T>A (p.Ile1179Lys)
c.3424T>A (p.Tyr1142Asn)
n.3505T>A
c.3200T>A (p.Ile1067Lys)
c.3611T>A (p.Ile1204Lys)
c.*3253T>A (n.*3253T>A)
n.3636T>A
c.151+6852T>A (n.151+6852T>A)
c.756T>A (n.756T>A)
c.1067T>A (p.Ile356Lys)
c.3533T>A (p.Ile1178Lys)
c.656-678T>A (n.656-678T>A)
c.3464T>A (p.Ile1155Lys)
c.3527T>A (p.Ile1176Lys)
c.3515T>A (p.Ile1172Lys)
 ClinVar dbSNP
2g.144389561T>ACA348699067ZEB2c.*3384A>T (n.*3384A>T)
c.2758A>T (p.Ile920Leu)
c.3535A>T (p.Ile1179Leu)
c.3423A>T (p.Arg1141=)
n.3504A>T
c.3199A>T (p.Ile1067Leu)
c.3610A>T (p.Ile1204Leu)
c.*3252A>T (n.*3252A>T)
n.3635A>T
c.151+6851A>T (n.151+6851A>T)
c.755A>T (n.755A>T)
c.1066A>T (p.Ile356Leu)
c.3532A>T (p.Ile1178Leu)
c.656-679A>T (n.656-679A>T)
c.3463A>T (p.Ile1155Leu)
c.3526A>T (p.Ile1176Leu)
c.3514A>T (p.Ile1172Leu)
2g.144389561T>CCA348699068ZEB2c.*3384A>G (n.*3384A>G)
c.2758A>G (p.Ile920Val)
c.3535A>G (p.Ile1179Val)
c.3423A>G (p.Arg1141=)
n.3504A>G
c.3199A>G (p.Ile1067Val)
c.3610A>G (p.Ile1204Val)
c.*3252A>G (n.*3252A>G)
n.3635A>G
c.151+6851A>G (n.151+6851A>G)
c.755A>G (n.755A>G)
c.1066A>G (p.Ile356Val)
c.3532A>G (p.Ile1178Val)
c.656-679A>G (n.656-679A>G)
c.3463A>G (p.Ile1155Val)
c.3526A>G (p.Ile1176Val)
c.3514A>G (p.Ile1172Val)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.144389561T>GCA348699069ZEB2c.*3384A>C (n.*3384A>C)
c.2758A>C (p.Ile920Leu)
c.3535A>C (p.Ile1179Leu)
c.3423A>C (p.Arg1141=)
n.3504A>C
c.3199A>C (p.Ile1067Leu)
c.3610A>C (p.Ile1204Leu)
c.*3252A>C (n.*3252A>C)
n.3635A>C
c.151+6851A>C (n.151+6851A>C)
c.755A>C (n.755A>C)
c.1066A>C (p.Ile356Leu)
c.3532A>C (p.Ile1178Leu)
c.656-679A>C (n.656-679A>C)
c.3463A>C (p.Ile1155Leu)
c.3526A>C (p.Ile1176Leu)
c.3514A>C (p.Ile1172Leu)
2g.144389561T=CA1294881252ZEB2c.*3384A= (n.*3384A=)
c.2758A= (p.Ile920=)
c.3535A= (p.Ile1179=)
c.3423A= (p.Arg1141=)
n.3504A=
c.3199A= (p.Ile1067=)
c.3610A= (p.Ile1204=)
c.*3252A= (n.*3252A=)
n.3635A=
c.151+6851A= (n.151+6851A=)
c.755A= (n.755A=)
c.1066A= (p.Ile356=)
c.3532A= (p.Ile1178=)
c.656-679A= (n.656-679A=)
c.3463A= (p.Ile1155=)
c.3526A= (p.Ile1176=)
c.3514A= (p.Ile1172=)
2g.144389562C>ACA429441082ZEB2c.*3383G>T (n.*3383G>T)
c.2757G>T (p.Thr919=)
c.3534G>T (p.Thr1178=)
c.3422G>T (p.Arg1141Leu)
n.3503G>T
c.3198G>T (p.Thr1066=)
c.3609G>T (p.Thr1203=)
c.*3251G>T (n.*3251G>T)
n.3634G>T
c.151+6850G>T (n.151+6850G>T)
c.754G>T (n.754G>T)
c.1065G>T (p.Thr355=)
c.3531G>T (p.Thr1177=)
c.656-680G>T (n.656-680G>T)
c.3462G>T (p.Thr1154=)
c.3525G>T (p.Thr1175=)
c.3513G>T (p.Thr1171=)
2g.144389562C>GCA429441083ZEB2c.*3383G>C (n.*3383G>C)
c.2757G>C (p.Thr919=)
c.3534G>C (p.Thr1178=)
c.3422G>C (p.Arg1141Pro)
n.3503G>C
c.3198G>C (p.Thr1066=)
c.3609G>C (p.Thr1203=)
c.*3251G>C (n.*3251G>C)
n.3634G>C
c.151+6850G>C (n.151+6850G>C)
c.754G>C (n.754G>C)
c.1065G>C (p.Thr355=)
c.3531G>C (p.Thr1177=)
c.656-680G>C (n.656-680G>C)
c.3462G>C (p.Thr1154=)
c.3525G>C (p.Thr1175=)
c.3513G>C (p.Thr1171=)
2g.144389562C>TCA429441084ZEB2c.*3383G>A (n.*3383G>A)
c.2757G>A (p.Thr919=)
c.3534G>A (p.Thr1178=)
c.3422G>A (p.Arg1141Gln)
n.3503G>A
c.3198G>A (p.Thr1066=)
c.3609G>A (p.Thr1203=)
c.*3251G>A (n.*3251G>A)
n.3634G>A
c.151+6850G>A (n.151+6850G>A)
c.754G>A (n.754G>A)
c.1065G>A (p.Thr355=)
c.3531G>A (p.Thr1177=)
c.656-680G>A (n.656-680G>A)
c.3462G>A (p.Thr1154=)
c.3525G>A (p.Thr1175=)
c.3513G>A (p.Thr1171=)
 gnomAD v4 COSMIC
2g.144389562_144389563delinsCGCA1294881253ZEB2c.*3382_*3383delinsCG (n.*3382_*3383delinsCG)
c.2756_2757delinsCG (p.Thr919=)
c.3533_3534delinsCG (p.Thr1178=)
c.3421_3422delinsCG (p.Arg1141=)
n.3502_3503delinsCG
c.3197_3198delinsCG (p.Thr1066=)
c.3608_3609delinsCG (p.Thr1203=)
c.*3250_*3251delinsCG (n.*3250_*3251delinsCG)
n.3633_3634delinsCG
c.151+6849_151+6850delinsCG (n.151+6849_151+6850delinsCG)
c.753_754delinsCG (n.753_754delinsCG)
c.1064_1065delinsCG (p.Thr355=)
c.3530_3531delinsCG (p.Thr1177=)
c.656-681_656-680delinsCG (n.656-681_656-680delinsCG)
c.3461_3462delinsCG (p.Thr1154=)
c.3524_3525delinsCG (p.Thr1175=)
c.3512_3513delinsCG (p.Thr1171=)
2g.144389563delCA273384ZEB2c.*3382del (n.*3382del)
c.2756del (p.Thr919ArgfsTer?)
c.3533del (p.Thr1178ArgfsTer?)
c.3421del (p.Arg1141AspfsTer4)
n.3502del
c.3197del (p.Thr1066ArgfsTer?)
c.3608del (p.Thr1203ArgfsTer?)
c.*3250del (n.*3250del)
n.3633del
c.151+6849del (n.151+6849del)
c.753del (n.753del)
c.1064del (p.Thr355ArgfsTer?)
c.3530del (p.Thr1177ArgfsTer?)
c.656-681del (n.656-681del)
c.3461del (p.Thr1154ArgfsTer?)
c.3524del (p.Thr1175ArgfsTer?)
c.3512del (p.Thr1171ArgfsTer?)
 ClinVar dbSNP
2g.144389563G>ACA348699070ZEB2c.*3382C>T (n.*3382C>T)
c.2756C>T (p.Thr919Met)
c.3533C>T (p.Thr1178Met)
c.3421C>T (p.Arg1141Ter)
n.3502C>T
c.3197C>T (p.Thr1066Met)
c.3608C>T (p.Thr1203Met)
c.*3250C>T (n.*3250C>T)
n.3633C>T
c.151+6849C>T (n.151+6849C>T)
c.753C>T (n.753C>T)
c.1064C>T (p.Thr355Met)
c.3530C>T (p.Thr1177Met)
c.656-681C>T (n.656-681C>T)
c.3461C>T (p.Thr1154Met)
c.3524C>T (p.Thr1175Met)
c.3512C>T (p.Thr1171Met)
2g.144389563G>CCA348699071ZEB2c.*3382C>G (n.*3382C>G)
c.2756C>G (p.Thr919Arg)
c.3533C>G (p.Thr1178Arg)
c.3421C>G (p.Arg1141Gly)
n.3502C>G
c.3197C>G (p.Thr1066Arg)
c.3608C>G (p.Thr1203Arg)
c.*3250C>G (n.*3250C>G)
n.3633C>G
c.151+6849C>G (n.151+6849C>G)
c.753C>G (n.753C>G)
c.1064C>G (p.Thr355Arg)
c.3530C>G (p.Thr1177Arg)
c.656-681C>G (n.656-681C>G)
c.3461C>G (p.Thr1154Arg)
c.3524C>G (p.Thr1175Arg)
c.3512C>G (p.Thr1171Arg)
2g.144389563G>TCA348699072ZEB2c.*3382C>A (n.*3382C>A)
c.2756C>A (p.Thr919Lys)
c.3533C>A (p.Thr1178Lys)
c.3421C>A (p.Arg1141=)
n.3502C>A
c.3197C>A (p.Thr1066Lys)
c.3608C>A (p.Thr1203Lys)
c.*3250C>A (n.*3250C>A)
n.3633C>A
c.151+6849C>A (n.151+6849C>A)
c.753C>A (n.753C>A)
c.1064C>A (p.Thr355Lys)
c.3530C>A (p.Thr1177Lys)
c.656-681C>A (n.656-681C>A)
c.3461C>A (p.Thr1154Lys)
c.3524C>A (p.Thr1175Lys)
c.3512C>A (p.Thr1171Lys)
2g.144389564T>ACA348699073ZEB2c.*3381A>T (n.*3381A>T)
c.2755A>T (p.Thr919Ser)
c.3532A>T (p.Thr1178Ser)
c.3420A>T (p.Lys1140Asn)
n.3501A>T
c.3196A>T (p.Thr1066Ser)
c.3607A>T (p.Thr1203Ser)
c.*3249A>T (n.*3249A>T)
n.3632A>T
c.151+6848A>T (n.151+6848A>T)
c.752A>T (n.752A>T)
c.1063A>T (p.Thr355Ser)
c.3529A>T (p.Thr1177Ser)
c.656-682A>T (n.656-682A>T)
c.3460A>T (p.Thr1154Ser)
c.3523A>T (p.Thr1175Ser)
c.3511A>T (p.Thr1171Ser)
2g.144389564T>CCA348699074ZEB2c.*3381A>G (n.*3381A>G)
c.2755A>G (p.Thr919Ala)
c.3532A>G (p.Thr1178Ala)
c.3420A>G (p.Lys1140=)
n.3501A>G
c.3196A>G (p.Thr1066Ala)
c.3607A>G (p.Thr1203Ala)
c.*3249A>G (n.*3249A>G)
n.3632A>G
c.151+6848A>G (n.151+6848A>G)
c.752A>G (n.752A>G)
c.1063A>G (p.Thr355Ala)
c.3529A>G (p.Thr1177Ala)
c.656-682A>G (n.656-682A>G)
c.3460A>G (p.Thr1154Ala)
c.3523A>G (p.Thr1175Ala)
c.3511A>G (p.Thr1171Ala)
2g.144389564T>GCA348699075ZEB2c.*3381A>C (n.*3381A>C)
c.2755A>C (p.Thr919Pro)
c.3532A>C (p.Thr1178Pro)
c.3420A>C (p.Lys1140Asn)
n.3501A>C
c.3196A>C (p.Thr1066Pro)
c.3607A>C (p.Thr1203Pro)
c.*3249A>C (n.*3249A>C)
n.3632A>C
c.151+6848A>C (n.151+6848A>C)
c.752A>C (n.752A>C)
c.1063A>C (p.Thr355Pro)
c.3529A>C (p.Thr1177Pro)
c.656-682A>C (n.656-682A>C)
c.3460A>C (p.Thr1154Pro)
c.3523A>C (p.Thr1175Pro)
c.3511A>C (p.Thr1171Pro)
2g.144389565T>ACA348699077ZEB2c.*3380A>T (n.*3380A>T)
c.2754A>T (p.Glu918Asp)
c.3531A>T (p.Glu1177Asp)
c.3419A>T (p.Lys1140Ile)
n.3500A>T
c.3195A>T (p.Glu1065Asp)
c.3606A>T (p.Glu1202Asp)
c.*3248A>T (n.*3248A>T)
n.3631A>T
c.151+6847A>T (n.151+6847A>T)
c.751A>T (n.751A>T)
c.1062A>T (p.Glu354Asp)
c.3528A>T (p.Glu1176Asp)
c.656-683A>T (n.656-683A>T)
c.3459A>T (p.Glu1153Asp)
c.3522A>T (p.Glu1174Asp)
c.3510A>T (p.Glu1170Asp)
2g.144389565T>CCA429441085ZEB2c.*3380A>G (n.*3380A>G)
c.2754A>G (p.Glu918=)
c.3531A>G (p.Glu1177=)
c.3419A>G (p.Lys1140Arg)
n.3500A>G
c.3195A>G (p.Glu1065=)
c.3606A>G (p.Glu1202=)
c.*3248A>G (n.*3248A>G)
n.3631A>G
c.151+6847A>G (n.151+6847A>G)
c.751A>G (n.751A>G)
c.1062A>G (p.Glu354=)
c.3528A>G (p.Glu1176=)
c.656-683A>G (n.656-683A>G)
c.3459A>G (p.Glu1153=)
c.3522A>G (p.Glu1174=)
c.3510A>G (p.Glu1170=)
2g.144389565T>GCA348699076ZEB2c.*3380A>C (n.*3380A>C)
c.2754A>C (p.Glu918Asp)
c.3531A>C (p.Glu1177Asp)
c.3419A>C (p.Lys1140Thr)
n.3500A>C
c.3195A>C (p.Glu1065Asp)
c.3606A>C (p.Glu1202Asp)
c.*3248A>C (n.*3248A>C)
n.3631A>C
c.151+6847A>C (n.151+6847A>C)
c.751A>C (n.751A>C)
c.1062A>C (p.Glu354Asp)
c.3528A>C (p.Glu1176Asp)
c.656-683A>C (n.656-683A>C)
c.3459A>C (p.Glu1153Asp)
c.3522A>C (p.Glu1174Asp)
c.3510A>C (p.Glu1170Asp)
2g.144389566T>ACA348699078ZEB2c.*3379A>T (n.*3379A>T)
c.2753A>T (p.Glu918Val)
c.3530A>T (p.Glu1177Val)
c.3418A>T (p.Lys1140Ter)
n.3499A>T
c.3194A>T (p.Glu1065Val)
c.3605A>T (p.Glu1202Val)
c.*3247A>T (n.*3247A>T)
n.3630A>T
c.151+6846A>T (n.151+6846A>T)
c.750A>T (n.750A>T)
c.1061A>T (p.Glu354Val)
c.3527A>T (p.Glu1176Val)
c.656-684A>T (n.656-684A>T)
c.3458A>T (p.Glu1153Val)
c.3521A>T (p.Glu1174Val)
c.3509A>T (p.Glu1170Val)
2g.144389566T>CCA348699079ZEB2c.*3379A>G (n.*3379A>G)
c.2753A>G (p.Glu918Gly)
c.3530A>G (p.Glu1177Gly)
c.3418A>G (p.Lys1140Glu)
n.3499A>G
c.3194A>G (p.Glu1065Gly)
c.3605A>G (p.Glu1202Gly)
c.*3247A>G (n.*3247A>G)
n.3630A>G
c.151+6846A>G (n.151+6846A>G)
c.750A>G (n.750A>G)
c.1061A>G (p.Glu354Gly)
c.3527A>G (p.Glu1176Gly)
c.656-684A>G (n.656-684A>G)
c.3458A>G (p.Glu1153Gly)
c.3521A>G (p.Glu1174Gly)
c.3509A>G (p.Glu1170Gly)
2g.144389566T>GCA348699080ZEB2c.*3379A>C (n.*3379A>C)
c.2753A>C (p.Glu918Ala)
c.3530A>C (p.Glu1177Ala)
c.3418A>C (p.Lys1140Gln)
n.3499A>C
c.3194A>C (p.Glu1065Ala)
c.3605A>C (p.Glu1202Ala)
c.*3247A>C (n.*3247A>C)
n.3630A>C
c.151+6846A>C (n.151+6846A>C)
c.750A>C (n.750A>C)
c.1061A>C (p.Glu354Ala)
c.3527A>C (p.Glu1176Ala)
c.656-684A>C (n.656-684A>C)
c.3458A>C (p.Glu1153Ala)
c.3521A>C (p.Glu1174Ala)
c.3509A>C (p.Glu1170Ala)
2g.144389567delCA2586969975ZEB2c.*3378del (n.*3378del)
c.2752del (p.Glu918LysfsTer?)
c.3529del (p.Glu1177LysfsTer?)
c.3417del (p.Lys1140AsnfsTer5)
n.3498del
c.3193del (p.Glu1065LysfsTer?)
c.3604del (p.Glu1202LysfsTer?)
c.*3246del (n.*3246del)
n.3629del
c.151+6845del (n.151+6845del)
c.749del (n.749del)
c.1060del (p.Glu354LysfsTer?)
c.3526del (p.Glu1176LysfsTer?)
c.656-685del (n.656-685del)
c.3457del (p.Glu1153LysfsTer?)
c.3520del (p.Glu1174LysfsTer?)
c.3508del (p.Glu1170LysfsTer?)
2g.144389567C>ACA348699081ZEB2c.*3378G>T (n.*3378G>T)
c.2752G>T (p.Glu918Ter)
c.3529G>T (p.Glu1177Ter)
c.3417G>T (p.Pro1139=)
n.3498G>T
c.3193G>T (p.Glu1065Ter)
c.3604G>T (p.Glu1202Ter)
c.*3246G>T (n.*3246G>T)
n.3629G>T
c.151+6845G>T (n.151+6845G>T)
c.749G>T (n.749G>T)
c.1060G>T (p.Glu354Ter)
c.3526G>T (p.Glu1176Ter)
c.656-685G>T (n.656-685G>T)
c.3457G>T (p.Glu1153Ter)
c.3520G>T (p.Glu1174Ter)
c.3508G>T (p.Glu1170Ter)
2g.144389567C>GCA348699082ZEB2c.*3378G>C (n.*3378G>C)
c.2752G>C (p.Glu918Gln)
c.3529G>C (p.Glu1177Gln)
c.3417G>C (p.Pro1139=)
n.3498G>C
c.3193G>C (p.Glu1065Gln)
c.3604G>C (p.Glu1202Gln)
c.*3246G>C (n.*3246G>C)
n.3629G>C
c.151+6845G>C (n.151+6845G>C)
c.749G>C (n.749G>C)
c.1060G>C (p.Glu354Gln)
c.3526G>C (p.Glu1176Gln)
c.656-685G>C (n.656-685G>C)
c.3457G>C (p.Glu1153Gln)
c.3520G>C (p.Glu1174Gln)
c.3508G>C (p.Glu1170Gln)
2g.144389567C>TCA348699083ZEB2c.*3378G>A (n.*3378G>A)
c.2752G>A (p.Glu918Lys)
c.3529G>A (p.Glu1177Lys)
c.3417G>A (p.Pro1139=)
n.3498G>A
c.3193G>A (p.Glu1065Lys)
c.3604G>A (p.Glu1202Lys)
c.*3246G>A (n.*3246G>A)
n.3629G>A
c.151+6845G>A (n.151+6845G>A)
c.749G>A (n.749G>A)
c.1060G>A (p.Glu354Lys)
c.3526G>A (p.Glu1176Lys)
c.656-685G>A (n.656-685G>A)
c.3457G>A (p.Glu1153Lys)
c.3520G>A (p.Glu1174Lys)
c.3508G>A (p.Glu1170Lys)
 COSMIC
2g.144389568G>ACA1898106ZEB2c.*3377C>T (n.*3377C>T)
c.2751C>T (p.Pro917=)
c.3528C>T (p.Pro1176=)
c.3416C>T (p.Pro1139Leu)
n.3497C>T
c.3192C>T (p.Pro1064=)
c.3603C>T (p.Pro1201=)
c.*3245C>T (n.*3245C>T)
n.3628C>T
c.151+6844C>T (n.151+6844C>T)
c.748C>T (n.748C>T)
c.1059C>T (p.Pro353=)
c.3525C>T (p.Pro1175=)
c.656-686C>T (n.656-686C>T)
c.3456C>T (p.Pro1152=)
c.3519C>T (p.Pro1173=)
c.3507C>T (p.Pro1169=)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.144389568G>CCA429441087ZEB2c.*3377C>G (n.*3377C>G)
c.2751C>G (p.Pro917=)
c.3528C>G (p.Pro1176=)
c.3416C>G (p.Pro1139Arg)
n.3497C>G
c.3192C>G (p.Pro1064=)
c.3603C>G (p.Pro1201=)
c.*3245C>G (n.*3245C>G)
n.3628C>G
c.151+6844C>G (n.151+6844C>G)
c.748C>G (n.748C>G)
c.1059C>G (p.Pro353=)
c.3525C>G (p.Pro1175=)
c.656-686C>G (n.656-686C>G)
c.3456C>G (p.Pro1152=)
c.3519C>G (p.Pro1173=)
c.3507C>G (p.Pro1169=)
 gnomAD v4
2g.144389568G=CA1294881254ZEB2c.*3377C= (n.*3377C=)
c.2751C= (p.Pro917=)
c.3528C= (p.Pro1176=)
c.3416C= (p.Pro1139=)
n.3497C=
c.3192C= (p.Pro1064=)
c.3603C= (p.Pro1201=)
c.*3245C= (n.*3245C=)
n.3628C=
c.151+6844C= (n.151+6844C=)
c.748C= (n.748C=)
c.1059C= (p.Pro353=)
c.3525C= (p.Pro1175=)
c.656-686C= (n.656-686C=)
c.3456C= (p.Pro1152=)
c.3519C= (p.Pro1173=)
c.3507C= (p.Pro1169=)
2g.144389568G>TCA429441086ZEB2c.*3377C>A (n.*3377C>A)
c.2751C>A (p.Pro917=)
c.3528C>A (p.Pro1176=)
c.3416C>A (p.Pro1139Gln)
n.3497C>A
c.3192C>A (p.Pro1064=)
c.3603C>A (p.Pro1201=)
c.*3245C>A (n.*3245C>A)
n.3628C>A
c.151+6844C>A (n.151+6844C>A)
c.748C>A (n.748C>A)
c.1059C>A (p.Pro353=)
c.3525C>A (p.Pro1175=)
c.656-686C>A (n.656-686C>A)
c.3456C>A (p.Pro1152=)
c.3519C>A (p.Pro1173=)
c.3507C>A (p.Pro1169=)
2g.144389569G>ACA348699084ZEB2c.*3376C>T (n.*3376C>T)
c.2750C>T (p.Pro917Leu)
c.3527C>T (p.Pro1176Leu)
c.3415C>T (p.Pro1139Ser)
n.3496C>T
c.3191C>T (p.Pro1064Leu)
c.3602C>T (p.Pro1201Leu)
c.*3244C>T (n.*3244C>T)
n.3627C>T
c.151+6843C>T (n.151+6843C>T)
c.747C>T (n.747C>T)
c.1058C>T (p.Pro353Leu)
c.3524C>T (p.Pro1175Leu)
c.656-687C>T (n.656-687C>T)
c.3455C>T (p.Pro1152Leu)
c.3518C>T (p.Pro1173Leu)
c.3506C>T (p.Pro1169Leu)
2g.144389569G>CCA348699085ZEB2c.*3376C>G (n.*3376C>G)
c.2750C>G (p.Pro917Arg)
c.3527C>G (p.Pro1176Arg)
c.3415C>G (p.Pro1139Ala)
n.3496C>G
c.3191C>G (p.Pro1064Arg)
c.3602C>G (p.Pro1201Arg)
c.*3244C>G (n.*3244C>G)
n.3627C>G
c.151+6843C>G (n.151+6843C>G)
c.747C>G (n.747C>G)
c.1058C>G (p.Pro353Arg)
c.3524C>G (p.Pro1175Arg)
c.656-687C>G (n.656-687C>G)
c.3455C>G (p.Pro1152Arg)
c.3518C>G (p.Pro1173Arg)
c.3506C>G (p.Pro1169Arg)
2g.144389569G=CA1294881255ZEB2c.*3376C= (n.*3376C=)
c.2750C= (p.Pro917=)
c.3527C= (p.Pro1176=)
c.3415C= (p.Pro1139=)
n.3496C=
c.3191C= (p.Pro1064=)
c.3602C= (p.Pro1201=)
c.*3244C= (n.*3244C=)
n.3627C=
c.151+6843C= (n.151+6843C=)
c.747C= (n.747C=)
c.1058C= (p.Pro353=)
c.3524C= (p.Pro1175=)
c.656-687C= (n.656-687C=)
c.3455C= (p.Pro1152=)
c.3518C= (p.Pro1173=)
c.3506C= (p.Pro1169=)
2g.144389569G>TCA1898107ZEB2c.*3376C>A (n.*3376C>A)
c.2750C>A (p.Pro917His)
c.3527C>A (p.Pro1176His)
c.3415C>A (p.Pro1139Thr)
n.3496C>A
c.3191C>A (p.Pro1064His)
c.3602C>A (p.Pro1201His)
c.*3244C>A (n.*3244C>A)
n.3627C>A
c.151+6843C>A (n.151+6843C>A)
c.747C>A (n.747C>A)
c.1058C>A (p.Pro353His)
c.3524C>A (p.Pro1175His)
c.656-687C>A (n.656-687C>A)
c.3455C>A (p.Pro1152His)
c.3518C>A (p.Pro1173His)
c.3506C>A (p.Pro1169His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.144389570G>ACA57549253ZEB2c.*3375C>T (n.*3375C>T)
c.2749C>T (p.Pro917Ser)
c.3526C>T (p.Pro1176Ser)
c.3414C>T (p.Ile1138=)
n.3495C>T
c.3190C>T (p.Pro1064Ser)
c.3601C>T (p.Pro1201Ser)
c.*3243C>T (n.*3243C>T)
n.3626C>T
c.151+6842C>T (n.151+6842C>T)
c.746C>T (n.746C>T)
c.1057C>T (p.Pro353Ser)
c.3523C>T (p.Pro1175Ser)
c.656-688C>T (n.656-688C>T)
c.3454C>T (p.Pro1152Ser)
c.3517C>T (p.Pro1173Ser)
c.3505C>T (p.Pro1169Ser)
 dbSNP gnomAD v2
2g.144389570G>CCA348699086ZEB2c.*3375C>G (n.*3375C>G)
c.2749C>G (p.Pro917Ala)
c.3526C>G (p.Pro1176Ala)
c.3414C>G (p.Ile1138Met)
n.3495C>G
c.3190C>G (p.Pro1064Ala)
c.3601C>G (p.Pro1201Ala)
c.*3243C>G (n.*3243C>G)
n.3626C>G
c.151+6842C>G (n.151+6842C>G)
c.746C>G (n.746C>G)
c.1057C>G (p.Pro353Ala)
c.3523C>G (p.Pro1175Ala)
c.656-688C>G (n.656-688C>G)
c.3454C>G (p.Pro1152Ala)
c.3517C>G (p.Pro1173Ala)
c.3505C>G (p.Pro1169Ala)
 dbSNP COSMIC
2g.144389570G=CA1294881256ZEB2c.*3375C= (n.*3375C=)
c.2749C= (p.Pro917=)
c.3526C= (p.Pro1176=)
c.3414C= (p.Ile1138=)
n.3495C=
c.3190C= (p.Pro1064=)
c.3601C= (p.Pro1201=)
c.*3243C= (n.*3243C=)
n.3626C=
c.151+6842C= (n.151+6842C=)
c.746C= (n.746C=)
c.1057C= (p.Pro353=)
c.3523C= (p.Pro1175=)
c.656-688C= (n.656-688C=)
c.3454C= (p.Pro1152=)
c.3517C= (p.Pro1173=)
c.3505C= (p.Pro1169=)
2g.144389570G>TCA348699087ZEB2c.*3375C>A (n.*3375C>A)
c.2749C>A (p.Pro917Thr)
c.3526C>A (p.Pro1176Thr)
c.3414C>A (p.Ile1138=)
n.3495C>A
c.3190C>A (p.Pro1064Thr)
c.3601C>A (p.Pro1201Thr)
c.*3243C>A (n.*3243C>A)
n.3626C>A
c.151+6842C>A (n.151+6842C>A)
c.746C>A (n.746C>A)
c.1057C>A (p.Pro353Thr)
c.3523C>A (p.Pro1175Thr)
c.656-688C>A (n.656-688C>A)
c.3454C>A (p.Pro1152Thr)
c.3517C>A (p.Pro1173Thr)
c.3505C>A (p.Pro1169Thr)
2g.144389571A>CCA348699089ZEB2c.*3374T>G (n.*3374T>G)
c.2748T>G (p.Asp916Glu)
c.3525T>G (p.Asp1175Glu)
c.3413T>G (p.Ile1138Ser)
n.3494T>G
c.3189T>G (p.Asp1063Glu)
c.3600T>G (p.Asp1200Glu)
c.*3242T>G (n.*3242T>G)
n.3625T>G
c.151+6841T>G (n.151+6841T>G)
c.745T>G (n.745T>G)
c.1056T>G (p.Asp352Glu)
c.3522T>G (p.Asp1174Glu)
c.656-689T>G (n.656-689T>G)
c.3453T>G (p.Asp1151Glu)
c.3516T>G (p.Asp1172Glu)
c.3504T>G (p.Asp1168Glu)
 gnomAD v4
2g.144389571A>GCA429441088ZEB2c.*3374T>C (n.*3374T>C)
c.2748T>C (p.Asp916=)
c.3525T>C (p.Asp1175=)
c.3413T>C (p.Ile1138Thr)
n.3494T>C
c.3189T>C (p.Asp1063=)
c.3600T>C (p.Asp1200=)
c.*3242T>C (n.*3242T>C)
n.3625T>C
c.151+6841T>C (n.151+6841T>C)
c.745T>C (n.745T>C)
c.1056T>C (p.Asp352=)
c.3522T>C (p.Asp1174=)
c.656-689T>C (n.656-689T>C)
c.3453T>C (p.Asp1151=)
c.3516T>C (p.Asp1172=)
c.3504T>C (p.Asp1168=)
2g.144389571A>TCA348699088ZEB2c.*3374T>A (n.*3374T>A)
c.2748T>A (p.Asp916Glu)
c.3525T>A (p.Asp1175Glu)
c.3413T>A (p.Ile1138Asn)
n.3494T>A
c.3189T>A (p.Asp1063Glu)
c.3600T>A (p.Asp1200Glu)
c.*3242T>A (n.*3242T>A)
n.3625T>A
c.151+6841T>A (n.151+6841T>A)
c.745T>A (n.745T>A)
c.1056T>A (p.Asp352Glu)
c.3522T>A (p.Asp1174Glu)
c.656-689T>A (n.656-689T>A)
c.3453T>A (p.Asp1151Glu)
c.3516T>A (p.Asp1172Glu)
c.3504T>A (p.Asp1168Glu)
 gnomAD v4
2g.144389572T>ACA348699090ZEB2c.*3373A>T (n.*3373A>T)
c.2747A>T (p.Asp916Val)
c.3524A>T (p.Asp1175Val)
c.3412A>T (p.Ile1138Phe)
n.3493A>T
c.3188A>T (p.Asp1063Val)
c.3599A>T (p.Asp1200Val)
c.*3241A>T (n.*3241A>T)
n.3624A>T
c.151+6840A>T (n.151+6840A>T)
c.744A>T (n.744A>T)
c.1055A>T (p.Asp352Val)
c.3521A>T (p.Asp1174Val)
c.656-690A>T (n.656-690A>T)
c.3452A>T (p.Asp1151Val)
c.3515A>T (p.Asp1172Val)
c.3503A>T (p.Asp1168Val)
 gnomAD v4
2g.144389572T>CCA348699091ZEB2c.*3373A>G (n.*3373A>G)
c.2747A>G (p.Asp916Gly)
c.3524A>G (p.Asp1175Gly)
c.3412A>G (p.Ile1138Val)
n.3493A>G
c.3188A>G (p.Asp1063Gly)
c.3599A>G (p.Asp1200Gly)
c.*3241A>G (n.*3241A>G)
n.3624A>G
c.151+6840A>G (n.151+6840A>G)
c.744A>G (n.744A>G)
c.1055A>G (p.Asp352Gly)
c.3521A>G (p.Asp1174Gly)
c.656-690A>G (n.656-690A>G)
c.3452A>G (p.Asp1151Gly)
c.3515A>G (p.Asp1172Gly)
c.3503A>G (p.Asp1168Gly)
2g.144389572T>GCA348699092ZEB2c.*3373A>C (n.*3373A>C)
c.2747A>C (p.Asp916Ala)
c.3524A>C (p.Asp1175Ala)
c.3412A>C (p.Ile1138Leu)
n.3493A>C
c.3188A>C (p.Asp1063Ala)
c.3599A>C (p.Asp1200Ala)
c.*3241A>C (n.*3241A>C)
n.3624A>C
c.151+6840A>C (n.151+6840A>C)
c.744A>C (n.744A>C)
c.1055A>C (p.Asp352Ala)
c.3521A>C (p.Asp1174Ala)
c.656-690A>C (n.656-690A>C)
c.3452A>C (p.Asp1151Ala)
c.3515A>C (p.Asp1172Ala)
c.3503A>C (p.Asp1168Ala)
2g.144389572_144389573delinsTCCA1294881257ZEB2c.*3372_*3373delinsGA (n.*3372_*3373delinsGA)
c.2746_2747delinsGA (p.Asp916=)
c.3523_3524delinsGA (p.Asp1175=)
c.3411_3412delinsGA (p.Arg1137=)
n.3492_3493delinsGA
c.3187_3188delinsGA (p.Asp1063=)
c.3598_3599delinsGA (p.Asp1200=)
c.*3240_*3241delinsGA (n.*3240_*3241delinsGA)
n.3623_3624delinsGA
c.151+6839_151+6840delinsGA (n.151+6839_151+6840delinsGA)
c.743_744delinsGA (n.743_744delinsGA)
c.1054_1055delinsGA (p.Asp352=)
c.3520_3521delinsGA (p.Asp1174=)
c.656-691_656-690delinsGA (n.656-691_656-690delinsGA)
c.3451_3452delinsGA (p.Asp1151=)
c.3514_3515delinsGA (p.Asp1172=)
c.3502_3503delinsGA (p.Asp1168=)
2g.144389573C>ACA348699093ZEB2c.*3372G>T (n.*3372G>T)
c.2746G>T (p.Asp916Tyr)
c.3523G>T (p.Asp1175Tyr)
c.3411G>T (p.Arg1137=)
n.3492G>T
c.3187G>T (p.Asp1063Tyr)
c.3598G>T (p.Asp1200Tyr)
c.*3240G>T (n.*3240G>T)
n.3623G>T
c.151+6839G>T (n.151+6839G>T)
c.743G>T (n.743G>T)
c.1054G>T (p.Asp352Tyr)
c.3520G>T (p.Asp1174Tyr)
c.656-691G>T (n.656-691G>T)
c.3451G>T (p.Asp1151Tyr)
c.3514G>T (p.Asp1172Tyr)
c.3502G>T (p.Asp1168Tyr)
2g.144389573C>GCA348699094ZEB2c.*3372G>C (n.*3372G>C)
c.2746G>C (p.Asp916His)
c.3523G>C (p.Asp1175His)
c.3411G>C (p.Arg1137=)
n.3492G>C
c.3187G>C (p.Asp1063His)
c.3598G>C (p.Asp1200His)
c.*3240G>C (n.*3240G>C)
n.3623G>C
c.151+6839G>C (n.151+6839G>C)
c.743G>C (n.743G>C)
c.1054G>C (p.Asp352His)
c.3520G>C (p.Asp1174His)
c.656-691G>C (n.656-691G>C)
c.3451G>C (p.Asp1151His)
c.3514G>C (p.Asp1172His)
c.3502G>C (p.Asp1168His)
2g.144389573C>TCA348699095ZEB2c.*3372G>A (n.*3372G>A)
c.2746G>A (p.Asp916Asn)
c.3523G>A (p.Asp1175Asn)
c.3411G>A (p.Arg1137=)
n.3492G>A
c.3187G>A (p.Asp1063Asn)
c.3598G>A (p.Asp1200Asn)
c.*3240G>A (n.*3240G>A)
n.3623G>A
c.151+6839G>A (n.151+6839G>A)
c.743G>A (n.743G>A)
c.1054G>A (p.Asp352Asn)
c.3520G>A (p.Asp1174Asn)
c.656-691G>A (n.656-691G>A)
c.3451G>A (p.Asp1151Asn)
c.3514G>A (p.Asp1172Asn)
c.3502G>A (p.Asp1168Asn)
2g.144389574delCA537029208ZEB2c.*3372del (n.*3372del)
c.2746del (p.Asp916IlefsTer?)
c.3523del (p.Asp1175IlefsTer?)
c.3411del (p.Ile1138SerfsTer7)
n.3492del
c.3187del (p.Asp1063IlefsTer?)
c.3598del (p.Asp1200IlefsTer?)
c.*3240del (n.*3240del)
n.3623del
c.151+6839del (n.151+6839del)
c.743del (n.743del)
c.1054del (p.Asp352IlefsTer?)
c.3520del (p.Asp1174IlefsTer?)
c.656-691del (n.656-691del)
c.3451del (p.Asp1151IlefsTer?)
c.3514del (p.Asp1172IlefsTer?)
c.3502del (p.Asp1168IlefsTer?)
 dbSNP gnomAD v2
2g.144389574C>ACA1898108ZEB2c.*3371G>T (n.*3371G>T)
c.2745G>T (p.Thr915=)
c.3522G>T (p.Thr1174=)
c.3410G>T (p.Arg1137Leu)
n.3491G>T
c.3186G>T (p.Thr1062=)
c.3597G>T (p.Thr1199=)
c.*3239G>T (n.*3239G>T)
n.3622G>T
c.151+6838G>T (n.151+6838G>T)
c.742G>T (n.742G>T)
c.1053G>T (p.Thr351=)
c.3519G>T (p.Thr1173=)
c.656-692G>T (n.656-692G>T)
c.3450G>T (p.Thr1150=)
c.3513G>T (p.Thr1171=)
c.3501G>T (p.Thr1167=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.144389574C=CA1294881258ZEB2c.*3371G= (n.*3371G=)
c.2745G= (p.Thr915=)
c.3522G= (p.Thr1174=)
c.3410G= (p.Arg1137=)
n.3491G=
c.3186G= (p.Thr1062=)
c.3597G= (p.Thr1199=)
c.*3239G= (n.*3239G=)
n.3622G=
c.151+6838G= (n.151+6838G=)
c.742G= (n.742G=)
c.1053G= (p.Thr351=)
c.3519G= (p.Thr1173=)
c.656-692G= (n.656-692G=)
c.3450G= (p.Thr1150=)
c.3513G= (p.Thr1171=)
c.3501G= (p.Thr1167=)
2g.144389574C>GCA429441090ZEB2c.*3371G>C (n.*3371G>C)
c.2745G>C (p.Thr915=)
c.3522G>C (p.Thr1174=)
c.3410G>C (p.Arg1137Pro)
n.3491G>C
c.3186G>C (p.Thr1062=)
c.3597G>C (p.Thr1199=)
c.*3239G>C (n.*3239G>C)
n.3622G>C
c.151+6838G>C (n.151+6838G>C)
c.742G>C (n.742G>C)
c.1053G>C (p.Thr351=)
c.3519G>C (p.Thr1173=)
c.656-692G>C (n.656-692G>C)
c.3450G>C (p.Thr1150=)
c.3513G>C (p.Thr1171=)
c.3501G>C (p.Thr1167=)
2g.144389574C>TCA429441089ZEB2c.*3371G>A (n.*3371G>A)
c.2745G>A (p.Thr915=)
c.3522G>A (p.Thr1174=)
c.3410G>A (p.Arg1137Gln)
n.3491G>A
c.3186G>A (p.Thr1062=)
c.3597G>A (p.Thr1199=)
c.*3239G>A (n.*3239G>A)
n.3622G>A
c.151+6838G>A (n.151+6838G>A)
c.742G>A (n.742G>A)
c.1053G>A (p.Thr351=)
c.3519G>A (p.Thr1173=)
c.656-692G>A (n.656-692G>A)
c.3450G>A (p.Thr1150=)
c.3513G>A (p.Thr1171=)
c.3501G>A (p.Thr1167=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.144389575G>ACA348699096ZEB2c.*3370C>T (n.*3370C>T)
c.2744C>T (p.Thr915Met)
c.3521C>T (p.Thr1174Met)
c.3409C>T (p.Arg1137Trp)
n.3490C>T
c.3185C>T (p.Thr1062Met)
c.3596C>T (p.Thr1199Met)
c.*3238C>T (n.*3238C>T)
n.3621C>T
c.151+6837C>T (n.151+6837C>T)
c.741C>T (n.741C>T)
c.1052C>T (p.Thr351Met)
c.3518C>T (p.Thr1173Met)
c.656-693C>T (n.656-693C>T)
c.3449C>T (p.Thr1150Met)
c.3512C>T (p.Thr1171Met)
c.3500C>T (p.Thr1167Met)
2g.144389575G>CCA348699097ZEB2c.*3370C>G (n.*3370C>G)
c.2744C>G (p.Thr915Arg)
c.3521C>G (p.Thr1174Arg)
c.3409C>G (p.Arg1137Gly)
n.3490C>G
c.3185C>G (p.Thr1062Arg)
c.3596C>G (p.Thr1199Arg)
c.*3238C>G (n.*3238C>G)
n.3621C>G
c.151+6837C>G (n.151+6837C>G)
c.741C>G (n.741C>G)
c.1052C>G (p.Thr351Arg)
c.3518C>G (p.Thr1173Arg)
c.656-693C>G (n.656-693C>G)
c.3449C>G (p.Thr1150Arg)
c.3512C>G (p.Thr1171Arg)
c.3500C>G (p.Thr1167Arg)
2g.144389575G>TCA348699098ZEB2c.*3370C>A (n.*3370C>A)
c.2744C>A (p.Thr915Lys)
c.3521C>A (p.Thr1174Lys)
c.3409C>A (p.Arg1137=)
n.3490C>A
c.3185C>A (p.Thr1062Lys)
c.3596C>A (p.Thr1199Lys)
c.*3238C>A (n.*3238C>A)
n.3621C>A
c.151+6837C>A (n.151+6837C>A)
c.741C>A (n.741C>A)
c.1052C>A (p.Thr351Lys)
c.3518C>A (p.Thr1173Lys)
c.656-693C>A (n.656-693C>A)
c.3449C>A (p.Thr1150Lys)
c.3512C>A (p.Thr1171Lys)
c.3500C>A (p.Thr1167Lys)
2g.144389576T>ACA348699099ZEB2c.*3369A>T (n.*3369A>T)
c.2743A>T (p.Thr915Ser)
c.3520A>T (p.Thr1174Ser)
c.3408A>T (p.Ile1136=)
n.3489A>T
c.3184A>T (p.Thr1062Ser)
c.3595A>T (p.Thr1199Ser)
c.*3237A>T (n.*3237A>T)
n.3620A>T
c.151+6836A>T (n.151+6836A>T)
c.740A>T (n.740A>T)
c.1051A>T (p.Thr351Ser)
c.3517A>T (p.Thr1173Ser)
c.656-694A>T (n.656-694A>T)
c.3448A>T (p.Thr1150Ser)
c.3511A>T (p.Thr1171Ser)
c.3499A>T (p.Thr1167Ser)
2g.144389576T>CCA348699100ZEB2c.*3369A>G (n.*3369A>G)
c.2743A>G (p.Thr915Ala)
c.3520A>G (p.Thr1174Ala)
c.3408A>G (p.Ile1136Met)
n.3489A>G
c.3184A>G (p.Thr1062Ala)
c.3595A>G (p.Thr1199Ala)
c.*3237A>G (n.*3237A>G)
n.3620A>G
c.151+6836A>G (n.151+6836A>G)
c.740A>G (n.740A>G)
c.1051A>G (p.Thr351Ala)
c.3517A>G (p.Thr1173Ala)
c.656-694A>G (n.656-694A>G)
c.3448A>G (p.Thr1150Ala)
c.3511A>G (p.Thr1171Ala)
c.3499A>G (p.Thr1167Ala)
 COSMIC
2g.144389576T>GCA348699101ZEB2c.*3369A>C (n.*3369A>C)
c.2743A>C (p.Thr915Pro)
c.3520A>C (p.Thr1174Pro)
c.3408A>C (p.Ile1136=)
n.3489A>C
c.3184A>C (p.Thr1062Pro)
c.3595A>C (p.Thr1199Pro)
c.*3237A>C (n.*3237A>C)
n.3620A>C
c.151+6836A>C (n.151+6836A>C)
c.740A>C (n.740A>C)
c.1051A>C (p.Thr351Pro)
c.3517A>C (p.Thr1173Pro)
c.656-694A>C (n.656-694A>C)
c.3448A>C (p.Thr1150Pro)
c.3511A>C (p.Thr1171Pro)
c.3499A>C (p.Thr1167Pro)
2g.144389577A>CCA348699103ZEB2c.*3368T>G (n.*3368T>G)
c.2742T>G (p.Asp914Glu)
c.3519T>G (p.Asp1173Glu)
c.3407T>G (p.Ile1136Arg)
n.3488T>G
c.3183T>G (p.Asp1061Glu)
c.3594T>G (p.Asp1198Glu)
c.*3236T>G (n.*3236T>G)
n.3619T>G
c.151+6835T>G (n.151+6835T>G)
c.739T>G (n.739T>G)
c.1050T>G (p.Asp350Glu)
c.3516T>G (p.Asp1172Glu)
c.656-695T>G (n.656-695T>G)
c.3447T>G (p.Asp1149Glu)
c.3510T>G (p.Asp1170Glu)
c.3498T>G (p.Asp1166Glu)
2g.144389577A>GCA429441091ZEB2c.*3368T>C (n.*3368T>C)
c.2742T>C (p.Asp914=)
c.3519T>C (p.Asp1173=)
c.3407T>C (p.Ile1136Thr)
n.3488T>C
c.3183T>C (p.Asp1061=)
c.3594T>C (p.Asp1198=)
c.*3236T>C (n.*3236T>C)
n.3619T>C
c.151+6835T>C (n.151+6835T>C)
c.739T>C (n.739T>C)
c.1050T>C (p.Asp350=)
c.3516T>C (p.Asp1172=)
c.656-695T>C (n.656-695T>C)
c.3447T>C (p.Asp1149=)
c.3510T>C (p.Asp1170=)
c.3498T>C (p.Asp1166=)
 gnomAD v4
2g.144389577A>TCA348699102ZEB2c.*3368T>A (n.*3368T>A)
c.2742T>A (p.Asp914Glu)
c.3519T>A (p.Asp1173Glu)
c.3407T>A (p.Ile1136Lys)
n.3488T>A
c.3183T>A (p.Asp1061Glu)
c.3594T>A (p.Asp1198Glu)
c.*3236T>A (n.*3236T>A)
n.3619T>A
c.151+6835T>A (n.151+6835T>A)
c.739T>A (n.739T>A)
c.1050T>A (p.Asp350Glu)
c.3516T>A (p.Asp1172Glu)
c.656-695T>A (n.656-695T>A)
c.3447T>A (p.Asp1149Glu)
c.3510T>A (p.Asp1170Glu)
c.3498T>A (p.Asp1166Glu)
2g.144389578T>ACA348699104ZEB2c.*3367A>T (n.*3367A>T)
c.2741A>T (p.Asp914Val)
c.3518A>T (p.Asp1173Val)
c.3406A>T (p.Ile1136Leu)
n.3487A>T
c.3182A>T (p.Asp1061Val)
c.3593A>T (p.Asp1198Val)
c.*3235A>T (n.*3235A>T)
n.3618A>T
c.151+6834A>T (n.151+6834A>T)
c.738A>T (n.738A>T)
c.1049A>T (p.Asp350Val)
c.3515A>T (p.Asp1172Val)
c.656-696A>T (n.656-696A>T)
c.3446A>T (p.Asp1149Val)
c.3509A>T (p.Asp1170Val)
c.3497A>T (p.Asp1166Val)
2g.144389578T>CCA348699106ZEB2c.*3367A>G (n.*3367A>G)
c.2741A>G (p.Asp914Gly)
c.3518A>G (p.Asp1173Gly)
c.3406A>G (p.Ile1136Val)
n.3487A>G
c.3182A>G (p.Asp1061Gly)
c.3593A>G (p.Asp1198Gly)
c.*3235A>G (n.*3235A>G)
n.3618A>G
c.151+6834A>G (n.151+6834A>G)
c.738A>G (n.738A>G)
c.1049A>G (p.Asp350Gly)
c.3515A>G (p.Asp1172Gly)
c.656-696A>G (n.656-696A>G)
c.3446A>G (p.Asp1149Gly)
c.3509A>G (p.Asp1170Gly)
c.3497A>G (p.Asp1166Gly)
2g.144389578T>GCA348699105ZEB2c.*3367A>C (n.*3367A>C)
c.2741A>C (p.Asp914Ala)
c.3518A>C (p.Asp1173Ala)
c.3406A>C (p.Ile1136Leu)
n.3487A>C
c.3182A>C (p.Asp1061Ala)
c.3593A>C (p.Asp1198Ala)
c.*3235A>C (n.*3235A>C)
n.3618A>C
c.151+6834A>C (n.151+6834A>C)
c.738A>C (n.738A>C)
c.1049A>C (p.Asp350Ala)
c.3515A>C (p.Asp1172Ala)
c.656-696A>C (n.656-696A>C)
c.3446A>C (p.Asp1149Ala)
c.3509A>C (p.Asp1170Ala)
c.3497A>C (p.Asp1166Ala)
2g.144389579C>ACA348699107ZEB2c.*3366G>T (n.*3366G>T)
c.2740G>T (p.Asp914Tyr)
c.3517G>T (p.Asp1173Tyr)
c.3405G>T (p.Trp1135Cys)
n.3486G>T
c.3181G>T (p.Asp1061Tyr)
c.3592G>T (p.Asp1198Tyr)
c.*3234G>T (n.*3234G>T)
n.3617G>T
c.151+6833G>T (n.151+6833G>T)
c.737G>T (n.737G>T)
c.1048G>T (p.Asp350Tyr)
c.3514G>T (p.Asp1172Tyr)
c.656-697G>T (n.656-697G>T)
c.3445G>T (p.Asp1149Tyr)
c.3508G>T (p.Asp1170Tyr)
c.3496G>T (p.Asp1166Tyr)
2g.144389579C>GCA348699108ZEB2c.*3366G>C (n.*3366G>C)
c.2740G>C (p.Asp914His)
c.3517G>C (p.Asp1173His)
c.3405G>C (p.Trp1135Cys)
n.3486G>C
c.3181G>C (p.Asp1061His)
c.3592G>C (p.Asp1198His)
c.*3234G>C (n.*3234G>C)
n.3617G>C
c.151+6833G>C (n.151+6833G>C)
c.737G>C (n.737G>C)
c.1048G>C (p.Asp350His)
c.3514G>C (p.Asp1172His)
c.656-697G>C (n.656-697G>C)
c.3445G>C (p.Asp1149His)
c.3508G>C (p.Asp1170His)
c.3496G>C (p.Asp1166His)
2g.144389579C>TCA348699109ZEB2c.*3366G>A (n.*3366G>A)
c.2740G>A (p.Asp914Asn)
c.3517G>A (p.Asp1173Asn)
c.3405G>A (p.Trp1135Ter)
n.3486G>A
c.3181G>A (p.Asp1061Asn)
c.3592G>A (p.Asp1198Asn)
c.*3234G>A (n.*3234G>A)
n.3617G>A
c.151+6833G>A (n.151+6833G>A)
c.737G>A (n.737G>A)
c.1048G>A (p.Asp350Asn)
c.3514G>A (p.Asp1172Asn)
c.656-697G>A (n.656-697G>A)
c.3445G>A (p.Asp1149Asn)
c.3508G>A (p.Asp1170Asn)
c.3496G>A (p.Asp1166Asn)
2g.144389580C>ACA348699110ZEB2c.*3365G>T (n.*3365G>T)
c.2739G>T (p.Met913Ile)
c.3516G>T (p.Met1172Ile)
c.3404G>T (p.Trp1135Leu)
n.3485G>T
c.3180G>T (p.Met1060Ile)
c.3591G>T (p.Met1197Ile)
c.*3233G>T (n.*3233G>T)
n.3616G>T
c.151+6832G>T (n.151+6832G>T)
c.736G>T (n.736G>T)
c.1047G>T (p.Met349Ile)
c.3513G>T (p.Met1171Ile)
c.656-698G>T (n.656-698G>T)
c.3444G>T (p.Met1148Ile)
c.3507G>T (p.Met1169Ile)
c.3495G>T (p.Met1165Ile)
2g.144389580C>GCA348699111ZEB2c.*3365G>C (n.*3365G>C)
c.2739G>C (p.Met913Ile)
c.3516G>C (p.Met1172Ile)
c.3404G>C (p.Trp1135Ser)
n.3485G>C
c.3180G>C (p.Met1060Ile)
c.3591G>C (p.Met1197Ile)
c.*3233G>C (n.*3233G>C)
n.3616G>C
c.151+6832G>C (n.151+6832G>C)
c.736G>C (n.736G>C)
c.1047G>C (p.Met349Ile)
c.3513G>C (p.Met1171Ile)
c.656-698G>C (n.656-698G>C)
c.3444G>C (p.Met1148Ile)
c.3507G>C (p.Met1169Ile)
c.3495G>C (p.Met1165Ile)
2g.144389580C>TCA348699112ZEB2c.*3365G>A (n.*3365G>A)
c.2739G>A (p.Met913Ile)
c.3516G>A (p.Met1172Ile)
c.3404G>A (p.Trp1135Ter)
n.3485G>A
c.3180G>A (p.Met1060Ile)
c.3591G>A (p.Met1197Ile)
c.*3233G>A (n.*3233G>A)
n.3616G>A
c.151+6832G>A (n.151+6832G>A)
c.736G>A (n.736G>A)
c.1047G>A (p.Met349Ile)
c.3513G>A (p.Met1171Ile)
c.656-698G>A (n.656-698G>A)
c.3444G>A (p.Met1148Ile)
c.3507G>A (p.Met1169Ile)
c.3495G>A (p.Met1165Ile)
2g.144389581A>CCA348699113ZEB2c.*3364T>G (n.*3364T>G)
c.2738T>G (p.Met913Arg)
c.3515T>G (p.Met1172Arg)
c.3403T>G (p.Trp1135Gly)
n.3484T>G
c.3179T>G (p.Met1060Arg)
c.3590T>G (p.Met1197Arg)
c.*3232T>G (n.*3232T>G)
n.3615T>G
c.151+6831T>G (n.151+6831T>G)
c.735T>G (n.735T>G)
c.1046T>G (p.Met349Arg)
c.3512T>G (p.Met1171Arg)
c.656-699T>G (n.656-699T>G)
c.3443T>G (p.Met1148Arg)
c.3506T>G (p.Met1169Arg)
c.3494T>G (p.Met1165Arg)
2g.144389581A>GCA348699114ZEB2c.*3364T>C (n.*3364T>C)
c.2738T>C (p.Met913Thr)
c.3515T>C (p.Met1172Thr)
c.3403T>C (p.Trp1135Arg)
n.3484T>C
c.3179T>C (p.Met1060Thr)
c.3590T>C (p.Met1197Thr)
c.*3232T>C (n.*3232T>C)
n.3615T>C
c.151+6831T>C (n.151+6831T>C)
c.735T>C (n.735T>C)
c.1046T>C (p.Met349Thr)
c.3512T>C (p.Met1171Thr)
c.656-699T>C (n.656-699T>C)
c.3443T>C (p.Met1148Thr)
c.3506T>C (p.Met1169Thr)
c.3494T>C (p.Met1165Thr)
 gnomAD v4 COSMIC
2g.144389581A>TCA348699115ZEB2c.*3364T>A (n.*3364T>A)
c.2738T>A (p.Met913Lys)
c.3515T>A (p.Met1172Lys)
c.3403T>A (p.Trp1135Arg)
n.3484T>A
c.3179T>A (p.Met1060Lys)
c.3590T>A (p.Met1197Lys)
c.*3232T>A (n.*3232T>A)
n.3615T>A
c.151+6831T>A (n.151+6831T>A)
c.735T>A (n.735T>A)
c.1046T>A (p.Met349Lys)
c.3512T>A (p.Met1171Lys)
c.656-699T>A (n.656-699T>A)
c.3443T>A (p.Met1148Lys)
c.3506T>A (p.Met1169Lys)
c.3494T>A (p.Met1165Lys)
2g.144389582T>ACA348699116ZEB2c.*3363A>T (n.*3363A>T)
c.2737A>T (p.Met913Leu)
c.3514A>T (p.Met1172Leu)
c.3402A>T (p.Val1134=)
n.3483A>T
c.3178A>T (p.Met1060Leu)
c.3589A>T (p.Met1197Leu)
c.*3231A>T (n.*3231A>T)
n.3614A>T
c.151+6830A>T (n.151+6830A>T)
c.734A>T (n.734A>T)
c.1045A>T (p.Met349Leu)
c.3511A>T (p.Met1171Leu)
c.656-700A>T (n.656-700A>T)
c.3442A>T (p.Met1148Leu)
c.3505A>T (p.Met1169Leu)
c.3493A>T (p.Met1165Leu)
2g.144389582T>CCA348699117ZEB2c.*3363A>G (n.*3363A>G)
c.2737A>G (p.Met913Val)
c.3514A>G (p.Met1172Val)
c.3402A>G (p.Val1134=)
n.3483A>G
c.3178A>G (p.Met1060Val)
c.3589A>G (p.Met1197Val)
c.*3231A>G (n.*3231A>G)
n.3614A>G
c.151+6830A>G (n.151+6830A>G)
c.734A>G (n.734A>G)
c.1045A>G (p.Met349Val)
c.3511A>G (p.Met1171Val)
c.656-700A>G (n.656-700A>G)
c.3442A>G (p.Met1148Val)
c.3505A>G (p.Met1169Val)
c.3493A>G (p.Met1165Val)
2g.144389582T>GCA348699118ZEB2c.*3363A>C (n.*3363A>C)
c.2737A>C (p.Met913Leu)
c.3514A>C (p.Met1172Leu)
c.3402A>C (p.Val1134=)
n.3483A>C
c.3178A>C (p.Met1060Leu)
c.3589A>C (p.Met1197Leu)
c.*3231A>C (n.*3231A>C)
n.3614A>C
c.151+6830A>C (n.151+6830A>C)
c.734A>C (n.734A>C)
c.1045A>C (p.Met349Leu)
c.3511A>C (p.Met1171Leu)
c.656-700A>C (n.656-700A>C)
c.3442A>C (p.Met1148Leu)
c.3505A>C (p.Met1169Leu)
c.3493A>C (p.Met1165Leu)
2g.144389583A=CA1294881259ZEB2c.*3362T= (n.*3362T=)
c.2736T= (p.Ser912=)
c.3513T= (p.Ser1171=)
c.3401T= (p.Val1134=)
n.3482T=
c.3177T= (p.Ser1059=)
c.3588T= (p.Ser1196=)
c.*3230T= (n.*3230T=)
n.3613T=
c.151+6829T= (n.151+6829T=)
c.733T= (n.733T=)
c.1044T= (p.Ser348=)
c.3510T= (p.Ser1170=)
c.656-701T= (n.656-701T=)
c.3441T= (p.Ser1147=)
c.3504T= (p.Ser1168=)
c.3492T= (p.Ser1164=)
2g.144389583A>CCA348699119ZEB2c.*3362T>G (n.*3362T>G)
c.2736T>G (p.Ser912Arg)
c.3513T>G (p.Ser1171Arg)
c.3401T>G (p.Val1134Gly)
n.3482T>G
c.3177T>G (p.Ser1059Arg)
c.3588T>G (p.Ser1196Arg)
c.*3230T>G (n.*3230T>G)
n.3613T>G
c.151+6829T>G (n.151+6829T>G)
c.733T>G (n.733T>G)
c.1044T>G (p.Ser348Arg)
c.3510T>G (p.Ser1170Arg)
c.656-701T>G (n.656-701T>G)
c.3441T>G (p.Ser1147Arg)
c.3504T>G (p.Ser1168Arg)
c.3492T>G (p.Ser1164Arg)
2g.144389583A>GCA429441092ZEB2c.*3362T>C (n.*3362T>C)
c.2736T>C (p.Ser912=)
c.3513T>C (p.Ser1171=)
c.3401T>C (p.Val1134Ala)
n.3482T>C
c.3177T>C (p.Ser1059=)
c.3588T>C (p.Ser1196=)
c.*3230T>C (n.*3230T>C)
n.3613T>C
c.151+6829T>C (n.151+6829T>C)
c.733T>C (n.733T>C)
c.1044T>C (p.Ser348=)
c.3510T>C (p.Ser1170=)
c.656-701T>C (n.656-701T>C)
c.3441T>C (p.Ser1147=)
c.3504T>C (p.Ser1168=)
c.3492T>C (p.Ser1164=)
 ClinVar dbSNP
2g.144389583A>TCA348699120ZEB2c.*3362T>A (n.*3362T>A)
c.2736T>A (p.Ser912Arg)
c.3513T>A (p.Ser1171Arg)
c.3401T>A (p.Val1134Glu)
n.3482T>A
c.3177T>A (p.Ser1059Arg)
c.3588T>A (p.Ser1196Arg)
c.*3230T>A (n.*3230T>A)
n.3613T>A
c.151+6829T>A (n.151+6829T>A)
c.733T>A (n.733T>A)
c.1044T>A (p.Ser348Arg)
c.3510T>A (p.Ser1170Arg)
c.656-701T>A (n.656-701T>A)
c.3441T>A (p.Ser1147Arg)
c.3504T>A (p.Ser1168Arg)
c.3492T>A (p.Ser1164Arg)
2g.144389584C>ACA348699121ZEB2c.*3361G>T (n.*3361G>T)
c.2735G>T (p.Ser912Ile)
c.3512G>T (p.Ser1171Ile)
c.3400G>T (p.Val1134Leu)
n.3481G>T
c.3176G>T (p.Ser1059Ile)
c.3587G>T (p.Ser1196Ile)
c.*3229G>T (n.*3229G>T)
n.3612G>T
c.151+6828G>T (n.151+6828G>T)
c.732G>T (n.732G>T)
c.1043G>T (p.Ser348Ile)
c.3509G>T (p.Ser1170Ile)
c.656-702G>T (n.656-702G>T)
c.3440G>T (p.Ser1147Ile)
c.3503G>T (p.Ser1168Ile)
c.3491G>T (p.Ser1164Ile)
2g.144389584C=CA1294881260ZEB2c.*3361G= (n.*3361G=)
c.2735G= (p.Ser912=)
c.3512G= (p.Ser1171=)
c.3400G= (p.Val1134=)
n.3481G=
c.3176G= (p.Ser1059=)
c.3587G= (p.Ser1196=)
c.*3229G= (n.*3229G=)
n.3612G=
c.151+6828G= (n.151+6828G=)
c.732G= (n.732G=)
c.1043G= (p.Ser348=)
c.3509G= (p.Ser1170=)
c.656-702G= (n.656-702G=)
c.3440G= (p.Ser1147=)
c.3503G= (p.Ser1168=)
c.3491G= (p.Ser1164=)
2g.144389584C>GCA348699122ZEB2c.*3361G>C (n.*3361G>C)
c.2735G>C (p.Ser912Thr)
c.3512G>C (p.Ser1171Thr)
c.3400G>C (p.Val1134Leu)
n.3481G>C
c.3176G>C (p.Ser1059Thr)
c.3587G>C (p.Ser1196Thr)
c.*3229G>C (n.*3229G>C)
n.3612G>C
c.151+6828G>C (n.151+6828G>C)
c.732G>C (n.732G>C)
c.1043G>C (p.Ser348Thr)
c.3509G>C (p.Ser1170Thr)
c.656-702G>C (n.656-702G>C)
c.3440G>C (p.Ser1147Thr)
c.3503G>C (p.Ser1168Thr)
c.3491G>C (p.Ser1164Thr)
 dbSNP gnomAD v3 gnomAD v4
2g.144389584C>TCA348699123ZEB2c.*3361G>A (n.*3361G>A)
c.2735G>A (p.Ser912Asn)
c.3512G>A (p.Ser1171Asn)
c.3400G>A (p.Val1134Ile)
n.3481G>A
c.3176G>A (p.Ser1059Asn)
c.3587G>A (p.Ser1196Asn)
c.*3229G>A (n.*3229G>A)
n.3612G>A
c.151+6828G>A (n.151+6828G>A)
c.732G>A (n.732G>A)
c.1043G>A (p.Ser348Asn)
c.3509G>A (p.Ser1170Asn)
c.656-702G>A (n.656-702G>A)
c.3440G>A (p.Ser1147Asn)
c.3503G>A (p.Ser1168Asn)
c.3491G>A (p.Ser1164Asn)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.144389585T>ACA348699124ZEB2c.*3360A>T (n.*3360A>T)
c.2734A>T (p.Ser912Cys)
c.3511A>T (p.Ser1171Cys)
c.3399A>T (p.Lys1133Asn)
n.3480A>T
c.3175A>T (p.Ser1059Cys)
c.3586A>T (p.Ser1196Cys)
c.*3228A>T (n.*3228A>T)
n.3611A>T
c.151+6827A>T (n.151+6827A>T)
c.731A>T (n.731A>T)
c.1042A>T (p.Ser348Cys)
c.3508A>T (p.Ser1170Cys)
c.656-703A>T (n.656-703A>T)
c.3439A>T (p.Ser1147Cys)
c.3502A>T (p.Ser1168Cys)
c.3490A>T (p.Ser1164Cys)
2g.144389585T>CCA348699125ZEB2c.*3360A>G (n.*3360A>G)
c.2734A>G (p.Ser912Gly)
c.3511A>G (p.Ser1171Gly)
c.3399A>G (p.Lys1133=)
n.3480A>G
c.3175A>G (p.Ser1059Gly)
c.3586A>G (p.Ser1196Gly)
c.*3228A>G (n.*3228A>G)
n.3611A>G
c.151+6827A>G (n.151+6827A>G)
c.731A>G (n.731A>G)
c.1042A>G (p.Ser348Gly)
c.3508A>G (p.Ser1170Gly)
c.656-703A>G (n.656-703A>G)
c.3439A>G (p.Ser1147Gly)
c.3502A>G (p.Ser1168Gly)
c.3490A>G (p.Ser1164Gly)
2g.144389585T>GCA348699126ZEB2c.*3360A>C (n.*3360A>C)
c.2734A>C (p.Ser912Arg)
c.3511A>C (p.Ser1171Arg)
c.3399A>C (p.Lys1133Asn)
n.3480A>C
c.3175A>C (p.Ser1059Arg)
c.3586A>C (p.Ser1196Arg)
c.*3228A>C (n.*3228A>C)
n.3611A>C
c.151+6827A>C (n.151+6827A>C)
c.731A>C (n.731A>C)
c.1042A>C (p.Ser348Arg)
c.3508A>C (p.Ser1170Arg)
c.656-703A>C (n.656-703A>C)
c.3439A>C (p.Ser1147Arg)
c.3502A>C (p.Ser1168Arg)
c.3490A>C (p.Ser1164Arg)
2g.144389586T>ACA348699127ZEB2c.*3359A>T (n.*3359A>T)
c.2733A>T (p.Lys911Asn)
c.3510A>T (p.Lys1170Asn)
c.3398A>T (p.Lys1133Ile)
n.3479A>T
c.3174A>T (p.Lys1058Asn)
c.3585A>T (p.Lys1195Asn)
c.*3227A>T (n.*3227A>T)
n.3610A>T
c.151+6826A>T (n.151+6826A>T)
c.730A>T (n.730A>T)
c.1041A>T (p.Lys347Asn)
c.3507A>T (p.Lys1169Asn)
c.656-704A>T (n.656-704A>T)
c.3438A>T (p.Lys1146Asn)
c.3501A>T (p.Lys1167Asn)
c.3489A>T (p.Lys1163Asn)
2g.144389586T>CCA429441093ZEB2c.*3359A>G (n.*3359A>G)
c.2733A>G (p.Lys911=)
c.3510A>G (p.Lys1170=)
c.3398A>G (p.Lys1133Arg)
n.3479A>G
c.3174A>G (p.Lys1058=)
c.3585A>G (p.Lys1195=)
c.*3227A>G (n.*3227A>G)
n.3610A>G
c.151+6826A>G (n.151+6826A>G)
c.730A>G (n.730A>G)
c.1041A>G (p.Lys347=)
c.3507A>G (p.Lys1169=)
c.656-704A>G (n.656-704A>G)
c.3438A>G (p.Lys1146=)
c.3501A>G (p.Lys1167=)
c.3489A>G (p.Lys1163=)
 dbSNP gnomAD v4
2g.144389586T>GCA348699128ZEB2c.*3359A>C (n.*3359A>C)
c.2733A>C (p.Lys911Asn)
c.3510A>C (p.Lys1170Asn)
c.3398A>C (p.Lys1133Thr)
n.3479A>C
c.3174A>C (p.Lys1058Asn)
c.3585A>C (p.Lys1195Asn)
c.*3227A>C (n.*3227A>C)
n.3610A>C
c.151+6826A>C (n.151+6826A>C)
c.730A>C (n.730A>C)
c.1041A>C (p.Lys347Asn)
c.3507A>C (p.Lys1169Asn)
c.656-704A>C (n.656-704A>C)
c.3438A>C (p.Lys1146Asn)
c.3501A>C (p.Lys1167Asn)
c.3489A>C (p.Lys1163Asn)
2g.144389586T=CA1294881261ZEB2c.*3359A= (n.*3359A=)
c.2733A= (p.Lys911=)
c.3510A= (p.Lys1170=)
c.3398A= (p.Lys1133=)
n.3479A=
c.3174A= (p.Lys1058=)
c.3585A= (p.Lys1195=)
c.*3227A= (n.*3227A=)
n.3610A=
c.151+6826A= (n.151+6826A=)
c.730A= (n.730A=)
c.1041A= (p.Lys347=)
c.3507A= (p.Lys1169=)
c.656-704A= (n.656-704A=)
c.3438A= (p.Lys1146=)
c.3501A= (p.Lys1167=)
c.3489A= (p.Lys1163=)
2g.144389587T>ACA348699129ZEB2c.*3358A>T (n.*3358A>T)
c.2732A>T (p.Lys911Ile)
c.3509A>T (p.Lys1170Ile)
c.3397A>T (p.Lys1133Ter)
n.3478A>T
c.3173A>T (p.Lys1058Ile)
c.3584A>T (p.Lys1195Ile)
c.*3226A>T (n.*3226A>T)
n.3609A>T
c.151+6825A>T (n.151+6825A>T)
c.729A>T (n.729A>T)
c.1040A>T (p.Lys347Ile)
c.3506A>T (p.Lys1169Ile)
c.656-705A>T (n.656-705A>T)
c.3437A>T (p.Lys1146Ile)
c.3500A>T (p.Lys1167Ile)
c.3488A>T (p.Lys1163Ile)
2g.144389587T>CCA348699130ZEB2c.*3358A>G (n.*3358A>G)
c.2732A>G (p.Lys911Arg)
c.3509A>G (p.Lys1170Arg)
c.3397A>G (p.Lys1133Glu)
n.3478A>G
c.3173A>G (p.Lys1058Arg)
c.3584A>G (p.Lys1195Arg)
c.*3226A>G (n.*3226A>G)
n.3609A>G
c.151+6825A>G (n.151+6825A>G)
c.729A>G (n.729A>G)
c.1040A>G (p.Lys347Arg)
c.3506A>G (p.Lys1169Arg)
c.656-705A>G (n.656-705A>G)
c.3437A>G (p.Lys1146Arg)
c.3500A>G (p.Lys1167Arg)
c.3488A>G (p.Lys1163Arg)
 dbSNP
2g.144389587T>GCA348699131ZEB2c.*3358A>C (n.*3358A>C)
c.2732A>C (p.Lys911Thr)
c.3509A>C (p.Lys1170Thr)
c.3397A>C (p.Lys1133Gln)
n.3478A>C
c.3173A>C (p.Lys1058Thr)
c.3584A>C (p.Lys1195Thr)
c.*3226A>C (n.*3226A>C)
n.3609A>C
c.151+6825A>C (n.151+6825A>C)
c.729A>C (n.729A>C)
c.1040A>C (p.Lys347Thr)
c.3506A>C (p.Lys1169Thr)
c.656-705A>C (n.656-705A>C)
c.3437A>C (p.Lys1146Thr)
c.3500A>C (p.Lys1167Thr)
c.3488A>C (p.Lys1163Thr)
2g.144389587T=CA1294881262ZEB2c.*3358A= (n.*3358A=)
c.2732A= (p.Lys911=)
c.3509A= (p.Lys1170=)
c.3397A= (p.Lys1133=)
n.3478A=
c.3173A= (p.Lys1058=)
c.3584A= (p.Lys1195=)
c.*3226A= (n.*3226A=)
n.3609A=
c.151+6825A= (n.151+6825A=)
c.729A= (n.729A=)
c.1040A= (p.Lys347=)
c.3506A= (p.Lys1169=)
c.656-705A= (n.656-705A=)
c.3437A= (p.Lys1146=)
c.3500A= (p.Lys1167=)
c.3488A= (p.Lys1163=)
2g.144389588T>ACA348699133ZEB2c.*3357A>T (n.*3357A>T)
c.2731A>T (p.Lys911Ter)
c.3508A>T (p.Lys1170Ter)
c.3396A>T (p.Ile1132=)
n.3477A>T
c.3172A>T (p.Lys1058Ter)
c.3583A>T (p.Lys1195Ter)
c.*3225A>T (n.*3225A>T)
n.3608A>T
c.151+6824A>T (n.151+6824A>T)
c.728A>T (n.728A>T)
c.1039A>T (p.Lys347Ter)
c.3505A>T (p.Lys1169Ter)
c.656-706A>T (n.656-706A>T)
c.3436A>T (p.Lys1146Ter)
c.3499A>T (p.Lys1167Ter)
c.3487A>T (p.Lys1163Ter)
2g.144389588T>CCA348699134ZEB2c.*3357A>G (n.*3357A>G)
c.2731A>G (p.Lys911Glu)
c.3508A>G (p.Lys1170Glu)
c.3396A>G (p.Ile1132Met)
n.3477A>G
c.3172A>G (p.Lys1058Glu)
c.3583A>G (p.Lys1195Glu)
c.*3225A>G (n.*3225A>G)
n.3608A>G
c.151+6824A>G (n.151+6824A>G)
c.728A>G (n.728A>G)
c.1039A>G (p.Lys347Glu)
c.3505A>G (p.Lys1169Glu)
c.656-706A>G (n.656-706A>G)
c.3436A>G (p.Lys1146Glu)
c.3499A>G (p.Lys1167Glu)
c.3487A>G (p.Lys1163Glu)
2g.144389588T>GCA348699132ZEB2c.*3357A>C (n.*3357A>C)
c.2731A>C (p.Lys911Gln)
c.3508A>C (p.Lys1170Gln)
c.3396A>C (p.Ile1132=)
n.3477A>C
c.3172A>C (p.Lys1058Gln)
c.3583A>C (p.Lys1195Gln)
c.*3225A>C (n.*3225A>C)
n.3608A>C
c.151+6824A>C (n.151+6824A>C)
c.728A>C (n.728A>C)
c.1039A>C (p.Lys347Gln)
c.3505A>C (p.Lys1169Gln)
c.656-706A>C (n.656-706A>C)
c.3436A>C (p.Lys1146Gln)
c.3499A>C (p.Lys1167Gln)
c.3487A>C (p.Lys1163Gln)
2g.144389589A>CCA348699135ZEB2c.*3356T>G (n.*3356T>G)
c.2730T>G (p.Asn910Lys)
c.3507T>G (p.Asn1169Lys)
c.3395T>G (p.Ile1132Arg)
n.3476T>G
c.3171T>G (p.Asn1057Lys)
c.3582T>G (p.Asn1194Lys)
c.*3224T>G (n.*3224T>G)
n.3607T>G
c.151+6823T>G (n.151+6823T>G)
c.727T>G (n.727T>G)
c.1038T>G (p.Asn346Lys)
c.3504T>G (p.Asn1168Lys)
c.656-707T>G (n.656-707T>G)
c.3435T>G (p.Asn1145Lys)
c.3498T>G (p.Asn1166Lys)
c.3486T>G (p.Asn1162Lys)
2g.144389589A>GCA429441094ZEB2c.*3356T>C (n.*3356T>C)
c.2730T>C (p.Asn910=)
c.3507T>C (p.Asn1169=)
c.3395T>C (p.Ile1132Thr)
n.3476T>C
c.3171T>C (p.Asn1057=)
c.3582T>C (p.Asn1194=)
c.*3224T>C (n.*3224T>C)
n.3607T>C
c.151+6823T>C (n.151+6823T>C)
c.727T>C (n.727T>C)
c.1038T>C (p.Asn346=)
c.3504T>C (p.Asn1168=)
c.656-707T>C (n.656-707T>C)
c.3435T>C (p.Asn1145=)
c.3498T>C (p.Asn1166=)
c.3486T>C (p.Asn1162=)
2g.144389589A>TCA348699136ZEB2c.*3356T>A (n.*3356T>A)
c.2730T>A (p.Asn910Lys)
c.3507T>A (p.Asn1169Lys)
c.3395T>A (p.Ile1132Lys)
n.3476T>A
c.3171T>A (p.Asn1057Lys)
c.3582T>A (p.Asn1194Lys)
c.*3224T>A (n.*3224T>A)
n.3607T>A
c.151+6823T>A (n.151+6823T>A)
c.727T>A (n.727T>A)
c.1038T>A (p.Asn346Lys)
c.3504T>A (p.Asn1168Lys)
c.656-707T>A (n.656-707T>A)
c.3435T>A (p.Asn1145Lys)
c.3498T>A (p.Asn1166Lys)
c.3486T>A (p.Asn1162Lys)
2g.144389590T>ACA348699137ZEB2c.*3355A>T (n.*3355A>T)
c.2729A>T (p.Asn910Ile)
c.3506A>T (p.Asn1169Ile)
c.3394A>T (p.Ile1132Leu)
n.3475A>T
c.3170A>T (p.Asn1057Ile)
c.3581A>T (p.Asn1194Ile)
c.*3223A>T (n.*3223A>T)
n.3606A>T
c.151+6822A>T (n.151+6822A>T)
c.726A>T (n.726A>T)
c.1037A>T (p.Asn346Ile)
c.3503A>T (p.Asn1168Ile)
c.656-708A>T (n.656-708A>T)
c.3434A>T (p.Asn1145Ile)
c.3497A>T (p.Asn1166Ile)
c.3485A>T (p.Asn1162Ile)
2g.144389590T>CCA348699138ZEB2c.*3355A>G (n.*3355A>G)
c.2729A>G (p.Asn910Ser)
c.3506A>G (p.Asn1169Ser)
c.3394A>G (p.Ile1132Val)
n.3475A>G
c.3170A>G (p.Asn1057Ser)
c.3581A>G (p.Asn1194Ser)
c.*3223A>G (n.*3223A>G)
n.3606A>G
c.151+6822A>G (n.151+6822A>G)
c.726A>G (n.726A>G)
c.1037A>G (p.Asn346Ser)
c.3503A>G (p.Asn1168Ser)
c.656-708A>G (n.656-708A>G)
c.3434A>G (p.Asn1145Ser)
c.3497A>G (p.Asn1166Ser)
c.3485A>G (p.Asn1162Ser)
2g.144389590T>GCA348699139ZEB2c.*3355A>C (n.*3355A>C)
c.2729A>C (p.Asn910Thr)
c.3506A>C (p.Asn1169Thr)
c.3394A>C (p.Ile1132Leu)
n.3475A>C
c.3170A>C (p.Asn1057Thr)
c.3581A>C (p.Asn1194Thr)
c.*3223A>C (n.*3223A>C)
n.3606A>C
c.151+6822A>C (n.151+6822A>C)
c.726A>C (n.726A>C)
c.1037A>C (p.Asn346Thr)
c.3503A>C (p.Asn1168Thr)
c.656-708A>C (n.656-708A>C)
c.3434A>C (p.Asn1145Thr)
c.3497A>C (p.Asn1166Thr)
c.3485A>C (p.Asn1162Thr)
2g.144389591T>ACA348699140ZEB2c.*3354A>T (n.*3354A>T)
c.2728A>T (p.Asn910Tyr)
c.3505A>T (p.Asn1169Tyr)
c.3393A>T (p.Lys1131Asn)
n.3474A>T
c.3169A>T (p.Asn1057Tyr)
c.3580A>T (p.Asn1194Tyr)
c.*3222A>T (n.*3222A>T)
n.3605A>T
c.151+6821A>T (n.151+6821A>T)
c.725A>T (n.725A>T)
c.1036A>T (p.Asn346Tyr)
c.3502A>T (p.Asn1168Tyr)
c.656-709A>T (n.656-709A>T)
c.3433A>T (p.Asn1145Tyr)
c.3496A>T (p.Asn1166Tyr)
c.3484A>T (p.Asn1162Tyr)
2g.144389591T>CCA348699141ZEB2c.*3354A>G (n.*3354A>G)
c.2728A>G (p.Asn910Asp)
c.3505A>G (p.Asn1169Asp)
c.3393A>G (p.Lys1131=)
n.3474A>G
c.3169A>G (p.Asn1057Asp)
c.3580A>G (p.Asn1194Asp)
c.*3222A>G (n.*3222A>G)
n.3605A>G
c.151+6821A>G (n.151+6821A>G)
c.725A>G (n.725A>G)
c.1036A>G (p.Asn346Asp)
c.3502A>G (p.Asn1168Asp)
c.656-709A>G (n.656-709A>G)
c.3433A>G (p.Asn1145Asp)
c.3496A>G (p.Asn1166Asp)
c.3484A>G (p.Asn1162Asp)
2g.144389591T>GCA348699142ZEB2c.*3354A>C (n.*3354A>C)
c.2728A>C (p.Asn910His)
c.3505A>C (p.Asn1169His)
c.3393A>C (p.Lys1131Asn)
n.3474A>C
c.3169A>C (p.Asn1057His)
c.3580A>C (p.Asn1194His)
c.*3222A>C (n.*3222A>C)
n.3605A>C
c.151+6821A>C (n.151+6821A>C)
c.725A>C (n.725A>C)
c.1036A>C (p.Asn346His)
c.3502A>C (p.Asn1168His)
c.656-709A>C (n.656-709A>C)
c.3433A>C (p.Asn1145His)
c.3496A>C (p.Asn1166His)
c.3484A>C (p.Asn1162His)
2g.144389592T>ACA348699143ZEB2c.*3353A>T (n.*3353A>T)
c.2727A>T (p.Glu909Asp)
c.3504A>T (p.Glu1168Asp)
c.3392A>T (p.Lys1131Ile)
n.3473A>T
c.3168A>T (p.Glu1056Asp)
c.3579A>T (p.Glu1193Asp)
c.*3221A>T (n.*3221A>T)
n.3604A>T
c.151+6820A>T (n.151+6820A>T)
c.724A>T (n.724A>T)
c.1035A>T (p.Glu345Asp)
c.3501A>T (p.Glu1167Asp)
c.656-710A>T (n.656-710A>T)
c.3432A>T (p.Glu1144Asp)
c.3495A>T (p.Glu1165Asp)
c.3483A>T (p.Glu1161Asp)
2g.144389592T>CCA429441095ZEB2c.*3353A>G (n.*3353A>G)
c.2727A>G (p.Glu909=)
c.3504A>G (p.Glu1168=)
c.3392A>G (p.Lys1131Arg)
n.3473A>G
c.3168A>G (p.Glu1056=)
c.3579A>G (p.Glu1193=)
c.*3221A>G (n.*3221A>G)
n.3604A>G
c.151+6820A>G (n.151+6820A>G)
c.724A>G (n.724A>G)
c.1035A>G (p.Glu345=)
c.3501A>G (p.Glu1167=)
c.656-710A>G (n.656-710A>G)
c.3432A>G (p.Glu1144=)
c.3495A>G (p.Glu1165=)
c.3483A>G (p.Glu1161=)
2g.144389592T>GCA348699144ZEB2c.*3353A>C (n.*3353A>C)
c.2727A>C (p.Glu909Asp)
c.3504A>C (p.Glu1168Asp)
c.3392A>C (p.Lys1131Thr)
n.3473A>C
c.3168A>C (p.Glu1056Asp)
c.3579A>C (p.Glu1193Asp)
c.*3221A>C (n.*3221A>C)
n.3604A>C
c.151+6820A>C (n.151+6820A>C)
c.724A>C (n.724A>C)
c.1035A>C (p.Glu345Asp)
c.3501A>C (p.Glu1167Asp)
c.656-710A>C (n.656-710A>C)
c.3432A>C (p.Glu1144Asp)
c.3495A>C (p.Glu1165Asp)
c.3483A>C (p.Glu1161Asp)
2g.144389593T>ACA348699145ZEB2c.*3352A>T (n.*3352A>T)
c.2726A>T (p.Glu909Val)
c.3503A>T (p.Glu1168Val)
c.3391A>T (p.Lys1131Ter)
n.3472A>T
c.3167A>T (p.Glu1056Val)
c.3578A>T (p.Glu1193Val)
c.*3220A>T (n.*3220A>T)
n.3603A>T
c.151+6819A>T (n.151+6819A>T)
c.723A>T (n.723A>T)
c.1034A>T (p.Glu345Val)
c.3500A>T (p.Glu1167Val)
c.656-711A>T (n.656-711A>T)
c.3431A>T (p.Glu1144Val)
c.3494A>T (p.Glu1165Val)
c.3482A>T (p.Glu1161Val)
2g.144389593T>CCA348699146ZEB2c.*3352A>G (n.*3352A>G)
c.2726A>G (p.Glu909Gly)
c.3503A>G (p.Glu1168Gly)
c.3391A>G (p.Lys1131Glu)
n.3472A>G
c.3167A>G (p.Glu1056Gly)
c.3578A>G (p.Glu1193Gly)
c.*3220A>G (n.*3220A>G)
n.3603A>G
c.151+6819A>G (n.151+6819A>G)
c.723A>G (n.723A>G)
c.1034A>G (p.Glu345Gly)
c.3500A>G (p.Glu1167Gly)
c.656-711A>G (n.656-711A>G)
c.3431A>G (p.Glu1144Gly)
c.3494A>G (p.Glu1165Gly)
c.3482A>G (p.Glu1161Gly)
2g.144389593T>GCA348699147ZEB2c.*3352A>C (n.*3352A>C)
c.2726A>C (p.Glu909Ala)
c.3503A>C (p.Glu1168Ala)
c.3391A>C (p.Lys1131Gln)
n.3472A>C
c.3167A>C (p.Glu1056Ala)
c.3578A>C (p.Glu1193Ala)
c.*3220A>C (n.*3220A>C)
n.3603A>C
c.151+6819A>C (n.151+6819A>C)
c.723A>C (n.723A>C)
c.1034A>C (p.Glu345Ala)
c.3500A>C (p.Glu1167Ala)
c.656-711A>C (n.656-711A>C)
c.3431A>C (p.Glu1144Ala)
c.3494A>C (p.Glu1165Ala)
c.3482A>C (p.Glu1161Ala)
 ClinVar dbSNP
2g.144389594C>ACA348699150ZEB2c.*3351G>T (n.*3351G>T)
c.2725G>T (p.Glu909Ter)
c.3502G>T (p.Glu1168Ter)
c.3390G>T (p.Val1130=)
n.3471G>T
c.3166G>T (p.Glu1056Ter)
c.3577G>T (p.Glu1193Ter)
c.*3219G>T (n.*3219G>T)
n.3602G>T
c.151+6818G>T (n.151+6818G>T)
c.722G>T (n.722G>T)
c.1033G>T (p.Glu345Ter)
c.3499G>T (p.Glu1167Ter)
c.656-712G>T (n.656-712G>T)
c.3430G>T (p.Glu1144Ter)
c.3493G>T (p.Glu1165Ter)
c.3481G>T (p.Glu1161Ter)
2g.144389594C>GCA348699149ZEB2c.*3351G>C (n.*3351G>C)
c.2725G>C (p.Glu909Gln)
c.3502G>C (p.Glu1168Gln)
c.3390G>C (p.Val1130=)
n.3471G>C
c.3166G>C (p.Glu1056Gln)
c.3577G>C (p.Glu1193Gln)
c.*3219G>C (n.*3219G>C)
n.3602G>C
c.151+6818G>C (n.151+6818G>C)
c.722G>C (n.722G>C)
c.1033G>C (p.Glu345Gln)
c.3499G>C (p.Glu1167Gln)
c.656-712G>C (n.656-712G>C)
c.3430G>C (p.Glu1144Gln)
c.3493G>C (p.Glu1165Gln)
c.3481G>C (p.Glu1161Gln)
2g.144389594C>TCA348699148ZEB2c.*3351G>A (n.*3351G>A)
c.2725G>A (p.Glu909Lys)
c.3502G>A (p.Glu1168Lys)
c.3390G>A (p.Val1130=)
n.3471G>A
c.3166G>A (p.Glu1056Lys)
c.3577G>A (p.Glu1193Lys)
c.*3219G>A (n.*3219G>A)
n.3602G>A
c.151+6818G>A (n.151+6818G>A)
c.722G>A (n.722G>A)
c.1033G>A (p.Glu345Lys)
c.3499G>A (p.Glu1167Lys)
c.656-712G>A (n.656-712G>A)
c.3430G>A (p.Glu1144Lys)
c.3493G>A (p.Glu1165Lys)
c.3481G>A (p.Glu1161Lys)
2g.144389595A>CCA348699151ZEB2c.*3350T>G (n.*3350T>G)
c.2724T>G (p.Ser908Arg)
c.3501T>G (p.Ser1167Arg)
c.3389T>G (p.Val1130Gly)
n.3470T>G
c.3165T>G (p.Ser1055Arg)
c.3576T>G (p.Ser1192Arg)
c.*3218T>G (n.*3218T>G)
n.3601T>G
c.151+6817T>G (n.151+6817T>G)
c.721T>G (n.721T>G)
c.1032T>G (p.Ser344Arg)
c.3498T>G (p.Ser1166Arg)
c.656-713T>G (n.656-713T>G)
c.3429T>G (p.Ser1143Arg)
c.3492T>G (p.Ser1164Arg)
c.3480T>G (p.Ser1160Arg)
2g.144389595A>GCA429441096ZEB2c.*3350T>C (n.*3350T>C)
c.2724T>C (p.Ser908=)
c.3501T>C (p.Ser1167=)
c.3389T>C (p.Val1130Ala)
n.3470T>C
c.3165T>C (p.Ser1055=)
c.3576T>C (p.Ser1192=)
c.*3218T>C (n.*3218T>C)
n.3601T>C
c.151+6817T>C (n.151+6817T>C)
c.721T>C (n.721T>C)
c.1032T>C (p.Ser344=)
c.3498T>C (p.Ser1166=)
c.656-713T>C (n.656-713T>C)
c.3429T>C (p.Ser1143=)
c.3492T>C (p.Ser1164=)
c.3480T>C (p.Ser1160=)
2g.144389595A>TCA348699152ZEB2c.*3350T>A (n.*3350T>A)
c.2724T>A (p.Ser908Arg)
c.3501T>A (p.Ser1167Arg)
c.3389T>A (p.Val1130Glu)
n.3470T>A
c.3165T>A (p.Ser1055Arg)
c.3576T>A (p.Ser1192Arg)
c.*3218T>A (n.*3218T>A)
n.3601T>A
c.151+6817T>A (n.151+6817T>A)
c.721T>A (n.721T>A)
c.1032T>A (p.Ser344Arg)
c.3498T>A (p.Ser1166Arg)
c.656-713T>A (n.656-713T>A)
c.3429T>A (p.Ser1143Arg)
c.3492T>A (p.Ser1164Arg)
c.3480T>A (p.Ser1160Arg)
2g.144389596C>ACA348699153ZEB2c.*3349G>T (n.*3349G>T)
c.2723G>T (p.Ser908Ile)
c.3500G>T (p.Ser1167Ile)
c.3388G>T (p.Val1130Leu)
n.3469G>T
c.3164G>T (p.Ser1055Ile)
c.3575G>T (p.Ser1192Ile)
c.*3217G>T (n.*3217G>T)
n.3600G>T
c.151+6816G>T (n.151+6816G>T)
c.720G>T (n.720G>T)
c.1031G>T (p.Ser344Ile)
c.3497G>T (p.Ser1166Ile)
c.656-714G>T (n.656-714G>T)
c.3428G>T (p.Ser1143Ile)
c.3491G>T (p.Ser1164Ile)
c.3479G>T (p.Ser1160Ile)
2g.144389596C>GCA348699154ZEB2c.*3349G>C (n.*3349G>C)
c.2723G>C (p.Ser908Thr)
c.3500G>C (p.Ser1167Thr)
c.3388G>C (p.Val1130Leu)
n.3469G>C
c.3164G>C (p.Ser1055Thr)
c.3575G>C (p.Ser1192Thr)
c.*3217G>C (n.*3217G>C)
n.3600G>C
c.151+6816G>C (n.151+6816G>C)
c.720G>C (n.720G>C)
c.1031G>C (p.Ser344Thr)
c.3497G>C (p.Ser1166Thr)
c.656-714G>C (n.656-714G>C)
c.3428G>C (p.Ser1143Thr)
c.3491G>C (p.Ser1164Thr)
c.3479G>C (p.Ser1160Thr)
2g.144389596C>TCA348699155ZEB2c.*3349G>A (n.*3349G>A)
c.2723G>A (p.Ser908Asn)
c.3500G>A (p.Ser1167Asn)
c.3388G>A (p.Val1130Met)
n.3469G>A
c.3164G>A (p.Ser1055Asn)
c.3575G>A (p.Ser1192Asn)
c.*3217G>A (n.*3217G>A)
n.3600G>A
c.151+6816G>A (n.151+6816G>A)
c.720G>A (n.720G>A)
c.1031G>A (p.Ser344Asn)
c.3497G>A (p.Ser1166Asn)
c.656-714G>A (n.656-714G>A)
c.3428G>A (p.Ser1143Asn)
c.3491G>A (p.Ser1164Asn)
c.3479G>A (p.Ser1160Asn)
2g.144389596_144389597delinsCTCA1294881263ZEB2c.*3348_*3349delinsAG (n.*3348_*3349delinsAG)
c.2722_2723delinsAG (p.Ser908=)
c.3499_3500delinsAG (p.Ser1167=)
c.3387_3388delinsAG (p.Lys1129=)
n.3468_3469delinsAG
c.3163_3164delinsAG (p.Ser1055=)
c.3574_3575delinsAG (p.Ser1192=)
c.*3216_*3217delinsAG (n.*3216_*3217delinsAG)
n.3599_3600delinsAG
c.151+6815_151+6816delinsAG (n.151+6815_151+6816delinsAG)
c.719_720delinsAG (n.719_720delinsAG)
c.1030_1031delinsAG (p.Ser344=)
c.3496_3497delinsAG (p.Ser1166=)
c.656-715_656-714delinsAG (n.656-715_656-714delinsAG)
c.3427_3428delinsAG (p.Ser1143=)
c.3490_3491delinsAG (p.Ser1164=)
c.3478_3479delinsAG (p.Ser1160=)
2g.144389597T>ACA348699156ZEB2c.*3348A>T (n.*3348A>T)
c.2722A>T (p.Ser908Cys)
c.3499A>T (p.Ser1167Cys)
c.3387A>T (p.Lys1129Asn)
n.3468A>T
c.3163A>T (p.Ser1055Cys)
c.3574A>T (p.Ser1192Cys)
c.*3216A>T (n.*3216A>T)
n.3599A>T
c.151+6815A>T (n.151+6815A>T)
c.719A>T (n.719A>T)
c.1030A>T (p.Ser344Cys)
c.3496A>T (p.Ser1166Cys)
c.656-715A>T (n.656-715A>T)
c.3427A>T (p.Ser1143Cys)
c.3490A>T (p.Ser1164Cys)
c.3478A>T (p.Ser1160Cys)
2g.144389597T>CCA348699157ZEB2c.*3348A>G (n.*3348A>G)
c.2722A>G (p.Ser908Gly)
c.3499A>G (p.Ser1167Gly)
c.3387A>G (p.Lys1129=)
n.3468A>G
c.3163A>G (p.Ser1055Gly)
c.3574A>G (p.Ser1192Gly)
c.*3216A>G (n.*3216A>G)
n.3599A>G
c.151+6815A>G (n.151+6815A>G)
c.719A>G (n.719A>G)
c.1030A>G (p.Ser344Gly)
c.3496A>G (p.Ser1166Gly)
c.656-715A>G (n.656-715A>G)
c.3427A>G (p.Ser1143Gly)
c.3490A>G (p.Ser1164Gly)
c.3478A>G (p.Ser1160Gly)
2g.144389597T>GCA348699158ZEB2c.*3348A>C (n.*3348A>C)
c.2722A>C (p.Ser908Arg)
c.3499A>C (p.Ser1167Arg)
c.3387A>C (p.Lys1129Asn)
n.3468A>C
c.3163A>C (p.Ser1055Arg)
c.3574A>C (p.Ser1192Arg)
c.*3216A>C (n.*3216A>C)
n.3599A>C
c.151+6815A>C (n.151+6815A>C)
c.719A>C (n.719A>C)
c.1030A>C (p.Ser344Arg)
c.3496A>C (p.Ser1166Arg)
c.656-715A>C (n.656-715A>C)
c.3427A>C (p.Ser1143Arg)
c.3490A>C (p.Ser1164Arg)
c.3478A>C (p.Ser1160Arg)
2g.144389599delCA297644ZEB2c.*3348del (n.*3348del)
c.2722del (p.Ser908ValfsTer?)
c.3499del (p.Ser1167ValfsTer?)
c.3387del (p.Val1130Ter)
n.3468del
c.3163del (p.Ser1055ValfsTer?)
c.3574del (p.Ser1192ValfsTer?)
c.*3216del (n.*3216del)
n.3599del
c.151+6815del (n.151+6815del)
c.719del (n.719del)
c.1030del (p.Ser344ValfsTer?)
c.3496del (p.Ser1166ValfsTer?)
c.656-715del (n.656-715del)
c.3427del (p.Ser1143ValfsTer?)
c.3490del (p.Ser1164ValfsTer?)
c.3478del (p.Ser1160ValfsTer?)
 ClinVar dbSNP
2g.144389598T>ACA348699159ZEB2c.*3347A>T (n.*3347A>T)
c.2721A>T (p.Glu907Asp)
c.3498A>T (p.Glu1166Asp)
c.3386A>T (p.Lys1129Ile)
n.3467A>T
c.3162A>T (p.Glu1054Asp)
c.3573A>T (p.Glu1191Asp)
c.*3215A>T (n.*3215A>T)
n.3598A>T
c.151+6814A>T (n.151+6814A>T)
c.718A>T (n.718A>T)
c.1029A>T (p.Glu343Asp)
c.3495A>T (p.Glu1165Asp)
c.656-716A>T (n.656-716A>T)
c.3426A>T (p.Glu1142Asp)
c.3489A>T (p.Glu1163Asp)
c.3477A>T (p.Glu1159Asp)
2g.144389598T>CCA429441097ZEB2c.*3347A>G (n.*3347A>G)
c.2721A>G (p.Glu907=)
c.3498A>G (p.Glu1166=)
c.3386A>G (p.Lys1129Arg)
n.3467A>G
c.3162A>G (p.Glu1054=)
c.3573A>G (p.Glu1191=)
c.*3215A>G (n.*3215A>G)
n.3598A>G
c.151+6814A>G (n.151+6814A>G)
c.718A>G (n.718A>G)
c.1029A>G (p.Glu343=)
c.3495A>G (p.Glu1165=)
c.656-716A>G (n.656-716A>G)
c.3426A>G (p.Glu1142=)
c.3489A>G (p.Glu1163=)
c.3477A>G (p.Glu1159=)
2g.144389598T>GCA348699160ZEB2c.*3347A>C (n.*3347A>C)
c.2721A>C (p.Glu907Asp)
c.3498A>C (p.Glu1166Asp)
c.3386A>C (p.Lys1129Thr)
n.3467A>C
c.3162A>C (p.Glu1054Asp)
c.3573A>C (p.Glu1191Asp)
c.*3215A>C (n.*3215A>C)
n.3598A>C
c.151+6814A>C (n.151+6814A>C)
c.718A>C (n.718A>C)
c.1029A>C (p.Glu343Asp)
c.3495A>C (p.Glu1165Asp)
c.656-716A>C (n.656-716A>C)
c.3426A>C (p.Glu1142Asp)
c.3489A>C (p.Glu1163Asp)
c.3477A>C (p.Glu1159Asp)
 gnomAD v4
2g.144389599T>ACA348699161ZEB2c.*3346A>T (n.*3346A>T)
c.2720A>T (p.Glu907Val)
c.3497A>T (p.Glu1166Val)
c.3385A>T (p.Lys1129Ter)
n.3466A>T
c.3161A>T (p.Glu1054Val)
c.3572A>T (p.Glu1191Val)
c.*3214A>T (n.*3214A>T)
n.3597A>T
c.151+6813A>T (n.151+6813A>T)
c.717A>T (n.717A>T)
c.1028A>T (p.Glu343Val)
c.3494A>T (p.Glu1165Val)
c.656-717A>T (n.656-717A>T)
c.3425A>T (p.Glu1142Val)
c.3488A>T (p.Glu1163Val)
c.3476A>T (p.Glu1159Val)
2g.144389599T>CCA348699162ZEB2c.*3346A>G (n.*3346A>G)
c.2720A>G (p.Glu907Gly)
c.3497A>G (p.Glu1166Gly)
c.3385A>G (p.Lys1129Glu)
n.3466A>G
c.3161A>G (p.Glu1054Gly)
c.3572A>G (p.Glu1191Gly)
c.*3214A>G (n.*3214A>G)
n.3597A>G
c.151+6813A>G (n.151+6813A>G)
c.717A>G (n.717A>G)
c.1028A>G (p.Glu343Gly)
c.3494A>G (p.Glu1165Gly)
c.656-717A>G (n.656-717A>G)
c.3425A>G (p.Glu1142Gly)
c.3488A>G (p.Glu1163Gly)
c.3476A>G (p.Glu1159Gly)
 gnomAD v4
2g.144389599T>GCA348699163ZEB2c.*3346A>C (n.*3346A>C)
c.2720A>C (p.Glu907Ala)
c.3497A>C (p.Glu1166Ala)
c.3385A>C (p.Lys1129Gln)
n.3466A>C
c.3161A>C (p.Glu1054Ala)
c.3572A>C (p.Glu1191Ala)
c.*3214A>C (n.*3214A>C)
n.3597A>C
c.151+6813A>C (n.151+6813A>C)
c.717A>C (n.717A>C)
c.1028A>C (p.Glu343Ala)
c.3494A>C (p.Glu1165Ala)
c.656-717A>C (n.656-717A>C)
c.3425A>C (p.Glu1142Ala)
c.3488A>C (p.Glu1163Ala)
c.3476A>C (p.Glu1159Ala)
2g.144389600C>ACA348699165ZEB2c.*3345G>T (n.*3345G>T)
c.2719G>T (p.Glu907Ter)
c.3496G>T (p.Glu1166Ter)
c.3384G>T (p.Lys1128Asn)
n.3465G>T
c.3160G>T (p.Glu1054Ter)
c.3571G>T (p.Glu1191Ter)
c.*3213G>T (n.*3213G>T)
n.3596G>T
c.151+6812G>T (n.151+6812G>T)
c.716G>T (n.716G>T)
c.1027G>T (p.Glu343Ter)
c.3493G>T (p.Glu1165Ter)
c.656-718G>T (n.656-718G>T)
c.3424G>T (p.Glu1142Ter)
c.3487G>T (p.Glu1163Ter)
c.3475G>T (p.Glu1159Ter)
2g.144389600C>GCA348699166ZEB2c.*3345G>C (n.*3345G>C)
c.2719G>C (p.Glu907Gln)
c.3496G>C (p.Glu1166Gln)
c.3384G>C (p.Lys1128Asn)
n.3465G>C
c.3160G>C (p.Glu1054Gln)
c.3571G>C (p.Glu1191Gln)
c.*3213G>C (n.*3213G>C)
n.3596G>C
c.151+6812G>C (n.151+6812G>C)
c.716G>C (n.716G>C)
c.1027G>C (p.Glu343Gln)
c.3493G>C (p.Glu1165Gln)
c.656-718G>C (n.656-718G>C)
c.3424G>C (p.Glu1142Gln)
c.3487G>C (p.Glu1163Gln)
c.3475G>C (p.Glu1159Gln)
2g.144389600C>TCA348699164ZEB2c.*3345G>A (n.*3345G>A)
c.2719G>A (p.Glu907Lys)
c.3496G>A (p.Glu1166Lys)
c.3384G>A (p.Lys1128=)
n.3465G>A
c.3160G>A (p.Glu1054Lys)
c.3571G>A (p.Glu1191Lys)
c.*3213G>A (n.*3213G>A)
n.3596G>A
c.151+6812G>A (n.151+6812G>A)
c.716G>A (n.716G>A)
c.1027G>A (p.Glu343Lys)
c.3493G>A (p.Glu1165Lys)
c.656-718G>A (n.656-718G>A)
c.3424G>A (p.Glu1142Lys)
c.3487G>A (p.Glu1163Lys)
c.3475G>A (p.Glu1159Lys)
2g.144389601T>ACA348699168ZEB2c.*3344A>T (n.*3344A>T)
c.2718A>T (p.Glu906Asp)
c.3495A>T (p.Glu1165Asp)
c.3383A>T (p.Lys1128Met)
n.3464A>T
c.3159A>T (p.Glu1053Asp)
c.3570A>T (p.Glu1190Asp)
c.*3212A>T (n.*3212A>T)
n.3595A>T
c.151+6811A>T (n.151+6811A>T)
c.715A>T (n.715A>T)
c.1026A>T (p.Glu342Asp)
c.3492A>T (p.Glu1164Asp)
c.656-719A>T (n.656-719A>T)
c.3423A>T (p.Glu1141Asp)
c.3486A>T (p.Glu1162Asp)
c.3474A>T (p.Glu1158Asp)
 dbSNP
2g.144389601T>CCA57549300ZEB2c.*3344A>G (n.*3344A>G)
c.2718A>G (p.Glu906=)
c.3495A>G (p.Glu1165=)
c.3383A>G (p.Lys1128Arg)
n.3464A>G
c.3159A>G (p.Glu1053=)
c.3570A>G (p.Glu1190=)
c.*3212A>G (n.*3212A>G)
n.3595A>G
c.151+6811A>G (n.151+6811A>G)
c.715A>G (n.715A>G)
c.1026A>G (p.Glu342=)
c.3492A>G (p.Glu1164=)
c.656-719A>G (n.656-719A>G)
c.3423A>G (p.Glu1141=)
c.3486A>G (p.Glu1162=)
c.3474A>G (p.Glu1158=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.144389601T>GCA348699167ZEB2c.*3344A>C (n.*3344A>C)
c.2718A>C (p.Glu906Asp)
c.3495A>C (p.Glu1165Asp)
c.3383A>C (p.Lys1128Thr)
n.3464A>C
c.3159A>C (p.Glu1053Asp)
c.3570A>C (p.Glu1190Asp)
c.*3212A>C (n.*3212A>C)
n.3595A>C
c.151+6811A>C (n.151+6811A>C)
c.715A>C (n.715A>C)
c.1026A>C (p.Glu342Asp)
c.3492A>C (p.Glu1164Asp)
c.656-719A>C (n.656-719A>C)
c.3423A>C (p.Glu1141Asp)
c.3486A>C (p.Glu1162Asp)
c.3474A>C (p.Glu1158Asp)
2g.144389601T=CA1294881264ZEB2c.*3344A= (n.*3344A=)
c.2718A= (p.Glu906=)
c.3495A= (p.Glu1165=)
c.3383A= (p.Lys1128=)
n.3464A=
c.3159A= (p.Glu1053=)
c.3570A= (p.Glu1190=)
c.*3212A= (n.*3212A=)
n.3595A=
c.151+6811A= (n.151+6811A=)
c.715A= (n.715A=)
c.1026A= (p.Glu342=)
c.3492A= (p.Glu1164=)
c.656-719A= (n.656-719A=)
c.3423A= (p.Glu1141=)
c.3486A= (p.Glu1162=)
c.3474A= (p.Glu1158=)
2g.144389602T>ACA348699169ZEB2c.*3343A>T (n.*3343A>T)
c.2717A>T (p.Glu906Val)
c.3494A>T (p.Glu1165Val)
c.3382A>T (p.Lys1128Ter)
n.3463A>T
c.3158A>T (p.Glu1053Val)
c.3569A>T (p.Glu1190Val)
c.*3211A>T (n.*3211A>T)
n.3594A>T
c.151+6810A>T (n.151+6810A>T)
c.714A>T (n.714A>T)
c.1025A>T (p.Glu342Val)
c.3491A>T (p.Glu1164Val)
c.656-720A>T (n.656-720A>T)
c.3422A>T (p.Glu1141Val)
c.3485A>T (p.Glu1162Val)
c.3473A>T (p.Glu1158Val)
2g.144389602T>CCA348699170ZEB2c.*3343A>G (n.*3343A>G)
c.2717A>G (p.Glu906Gly)
c.3494A>G (p.Glu1165Gly)
c.3382A>G (p.Lys1128Glu)
n.3463A>G
c.3158A>G (p.Glu1053Gly)
c.3569A>G (p.Glu1190Gly)
c.*3211A>G (n.*3211A>G)
n.3594A>G
c.151+6810A>G (n.151+6810A>G)
c.714A>G (n.714A>G)
c.1025A>G (p.Glu342Gly)
c.3491A>G (p.Glu1164Gly)
c.656-720A>G (n.656-720A>G)
c.3422A>G (p.Glu1141Gly)
c.3485A>G (p.Glu1162Gly)
c.3473A>G (p.Glu1158Gly)
2g.144389602T>GCA348699171ZEB2c.*3343A>C (n.*3343A>C)
c.2717A>C (p.Glu906Ala)
c.3494A>C (p.Glu1165Ala)
c.3382A>C (p.Lys1128Gln)
n.3463A>C
c.3158A>C (p.Glu1053Ala)
c.3569A>C (p.Glu1190Ala)
c.*3211A>C (n.*3211A>C)
n.3594A>C
c.151+6810A>C (n.151+6810A>C)
c.714A>C (n.714A>C)
c.1025A>C (p.Glu342Ala)
c.3491A>C (p.Glu1164Ala)
c.656-720A>C (n.656-720A>C)
c.3422A>C (p.Glu1141Ala)
c.3485A>C (p.Glu1162Ala)
c.3473A>C (p.Glu1158Ala)
2g.144389603C>ACA348699172ZEB2c.*3342G>T (n.*3342G>T)
c.2716G>T (p.Glu906Ter)
c.3493G>T (p.Glu1165Ter)
c.3381G>T (p.Arg1127Ser)
n.3462G>T
c.3157G>T (p.Glu1053Ter)
c.3568G>T (p.Glu1190Ter)
c.*3210G>T (n.*3210G>T)
n.3593G>T
c.151+6809G>T (n.151+6809G>T)
c.713G>T (n.713G>T)
c.1024G>T (p.Glu342Ter)
c.3490G>T (p.Glu1164Ter)
c.656-721G>T (n.656-721G>T)
c.3421G>T (p.Glu1141Ter)
c.3484G>T (p.Glu1162Ter)
c.3472G>T (p.Glu1158Ter)
2g.144389603C>GCA348699173ZEB2c.*3342G>C (n.*3342G>C)
c.2716G>C (p.Glu906Gln)
c.3493G>C (p.Glu1165Gln)
c.3381G>C (p.Arg1127Ser)
n.3462G>C
c.3157G>C (p.Glu1053Gln)
c.3568G>C (p.Glu1190Gln)
c.*3210G>C (n.*3210G>C)
n.3593G>C
c.151+6809G>C (n.151+6809G>C)
c.713G>C (n.713G>C)
c.1024G>C (p.Glu342Gln)
c.3490G>C (p.Glu1164Gln)
c.656-721G>C (n.656-721G>C)
c.3421G>C (p.Glu1141Gln)
c.3484G>C (p.Glu1162Gln)
c.3472G>C (p.Glu1158Gln)
2g.144389603C>TCA348699174ZEB2c.*3342G>A (n.*3342G>A)
c.2716G>A (p.Glu906Lys)
c.3493G>A (p.Glu1165Lys)
c.3381G>A (p.Arg1127=)
n.3462G>A
c.3157G>A (p.Glu1053Lys)
c.3568G>A (p.Glu1190Lys)
c.*3210G>A (n.*3210G>A)
n.3593G>A
c.151+6809G>A (n.151+6809G>A)
c.713G>A (n.713G>A)
c.1024G>A (p.Glu342Lys)
c.3490G>A (p.Glu1164Lys)
c.656-721G>A (n.656-721G>A)
c.3421G>A (p.Glu1141Lys)
c.3484G>A (p.Glu1162Lys)
c.3472G>A (p.Glu1158Lys)
2g.144389604C>ACA348699175ZEB2c.*3341G>T (n.*3341G>T)
c.2715G>T (p.Glu905Asp)
c.3492G>T (p.Glu1164Asp)
c.3380G>T (p.Arg1127Met)
n.3461G>T
c.3156G>T (p.Glu1052Asp)
c.3567G>T (p.Glu1189Asp)
c.*3209G>T (n.*3209G>T)
n.3592G>T
c.151+6808G>T (n.151+6808G>T)
c.712G>T (n.712G>T)
c.1023G>T (p.Glu341Asp)
c.3489G>T (p.Glu1163Asp)
c.656-722G>T (n.656-722G>T)
c.3420G>T (p.Glu1140Asp)
c.3483G>T (p.Glu1161Asp)
c.3471G>T (p.Glu1157Asp)
 gnomAD v4 COSMIC
2g.144389604C>GCA348699176ZEB2c.*3341G>C (n.*3341G>C)
c.2715G>C (p.Glu905Asp)
c.3492G>C (p.Glu1164Asp)
c.3380G>C (p.Arg1127Thr)
n.3461G>C
c.3156G>C (p.Glu1052Asp)
c.3567G>C (p.Glu1189Asp)
c.*3209G>C (n.*3209G>C)
n.3592G>C
c.151+6808G>C (n.151+6808G>C)
c.712G>C (n.712G>C)
c.1023G>C (p.Glu341Asp)
c.3489G>C (p.Glu1163Asp)
c.656-722G>C (n.656-722G>C)
c.3420G>C (p.Glu1140Asp)
c.3483G>C (p.Glu1161Asp)
c.3471G>C (p.Glu1157Asp)
 ClinVar dbSNP
2g.144389604C>TCA429441098ZEB2c.*3341G>A (n.*3341G>A)
c.2715G>A (p.Glu905=)
c.3492G>A (p.Glu1164=)
c.3380G>A (p.Arg1127Lys)
n.3461G>A
c.3156G>A (p.Glu1052=)
c.3567G>A (p.Glu1189=)
c.*3209G>A (n.*3209G>A)
n.3592G>A
c.151+6808G>A (n.151+6808G>A)
c.712G>A (n.712G>A)
c.1023G>A (p.Glu341=)
c.3489G>A (p.Glu1163=)
c.656-722G>A (n.656-722G>A)
c.3420G>A (p.Glu1140=)
c.3483G>A (p.Glu1161=)
c.3471G>A (p.Glu1157=)
 dbSNP gnomAD v4
2g.144389605T>ACA348699177ZEB2c.*3340A>T (n.*3340A>T)
c.2714A>T (p.Glu905Val)
c.3491A>T (p.Glu1164Val)
c.3379A>T (p.Arg1127Trp)
n.3460A>T
c.3155A>T (p.Glu1052Val)
c.3566A>T (p.Glu1189Val)
c.*3208A>T (n.*3208A>T)
n.3591A>T
c.151+6807A>T (n.151+6807A>T)
c.711A>T (n.711A>T)
c.1022A>T (p.Glu341Val)
c.3488A>T (p.Glu1163Val)
c.656-723A>T (n.656-723A>T)
c.3419A>T (p.Glu1140Val)
c.3482A>T (p.Glu1161Val)
c.3470A>T (p.Glu1157Val)
2g.144389605T>CCA348699178ZEB2c.*3340A>G (n.*3340A>G)
c.2714A>G (p.Glu905Gly)
c.3491A>G (p.Glu1164Gly)
c.3379A>G (p.Arg1127Gly)
n.3460A>G
c.3155A>G (p.Glu1052Gly)
c.3566A>G (p.Glu1189Gly)
c.*3208A>G (n.*3208A>G)
n.3591A>G
c.151+6807A>G (n.151+6807A>G)
c.711A>G (n.711A>G)
c.1022A>G (p.Glu341Gly)
c.3488A>G (p.Glu1163Gly)
c.656-723A>G (n.656-723A>G)
c.3419A>G (p.Glu1140Gly)
c.3482A>G (p.Glu1161Gly)
c.3470A>G (p.Glu1157Gly)
2g.144389605T>GCA348699179ZEB2c.*3340A>C (n.*3340A>C)
c.2714A>C (p.Glu905Ala)
c.3491A>C (p.Glu1164Ala)
c.3379A>C (p.Arg1127=)
n.3460A>C
c.3155A>C (p.Glu1052Ala)
c.3566A>C (p.Glu1189Ala)
c.*3208A>C (n.*3208A>C)
n.3591A>C
c.151+6807A>C (n.151+6807A>C)
c.711A>C (n.711A>C)
c.1022A>C (p.Glu341Ala)
c.3488A>C (p.Glu1163Ala)
c.656-723A>C (n.656-723A>C)
c.3419A>C (p.Glu1140Ala)
c.3482A>C (p.Glu1161Ala)
c.3470A>C (p.Glu1157Ala)
2g.144389606C>ACA348699182ZEB2c.*3339G>T (n.*3339G>T)
c.2713G>T (p.Glu905Ter)
c.3490G>T (p.Glu1164Ter)
c.3378G>T (p.Lys1126Asn)
n.3459G>T
c.3154G>T (p.Glu1052Ter)
c.3565G>T (p.Glu1189Ter)
c.*3207G>T (n.*3207G>T)
n.3590G>T
c.151+6806G>T (n.151+6806G>T)
c.710G>T (n.710G>T)
c.1021G>T (p.Glu341Ter)
c.3487G>T (p.Glu1163Ter)
c.656-724G>T (n.656-724G>T)
c.3418G>T (p.Glu1140Ter)
c.3481G>T (p.Glu1161Ter)
c.3469G>T (p.Glu1157Ter)
2g.144389606C>GCA348699181ZEB2c.*3339G>C (n.*3339G>C)
c.2713G>C (p.Glu905Gln)
c.3490G>C (p.Glu1164Gln)
c.3378G>C (p.Lys1126Asn)
n.3459G>C
c.3154G>C (p.Glu1052Gln)
c.3565G>C (p.Glu1189Gln)
c.*3207G>C (n.*3207G>C)
n.3590G>C
c.151+6806G>C (n.151+6806G>C)
c.710G>C (n.710G>C)
c.1021G>C (p.Glu341Gln)
c.3487G>C (p.Glu1163Gln)
c.656-724G>C (n.656-724G>C)
c.3418G>C (p.Glu1140Gln)
c.3481G>C (p.Glu1161Gln)
c.3469G>C (p.Glu1157Gln)
2g.144389606C>TCA348699180ZEB2c.*3339G>A (n.*3339G>A)
c.2713G>A (p.Glu905Lys)
c.3490G>A (p.Glu1164Lys)
c.3378G>A (p.Lys1126=)
n.3459G>A
c.3154G>A (p.Glu1052Lys)
c.3565G>A (p.Glu1189Lys)
c.*3207G>A (n.*3207G>A)
n.3590G>A
c.151+6806G>A (n.151+6806G>A)
c.710G>A (n.710G>A)
c.1021G>A (p.Glu341Lys)
c.3487G>A (p.Glu1163Lys)
c.656-724G>A (n.656-724G>A)
c.3418G>A (p.Glu1140Lys)
c.3481G>A (p.Glu1161Lys)
c.3469G>A (p.Glu1157Lys)
2g.144389607T>ACA348699183ZEB2c.*3338A>T (n.*3338A>T)
c.2712A>T (p.Glu904Asp)
c.3489A>T (p.Glu1163Asp)
c.3377A>T (p.Lys1126Met)
n.3458A>T
c.3153A>T (p.Glu1051Asp)
c.3564A>T (p.Glu1188Asp)
c.*3206A>T (n.*3206A>T)
n.3589A>T
c.151+6805A>T (n.151+6805A>T)
c.709A>T (n.709A>T)
c.1020A>T (p.Glu340Asp)
c.3486A>T (p.Glu1162Asp)
c.656-725A>T (n.656-725A>T)
c.3417A>T (p.Glu1139Asp)
c.3480A>T (p.Glu1160Asp)
c.3468A>T (p.Glu1156Asp)
2g.144389607T>CCA429441099ZEB2c.*3338A>G (n.*3338A>G)
c.2712A>G (p.Glu904=)
c.3489A>G (p.Glu1163=)
c.3377A>G (p.Lys1126Arg)
n.3458A>G
c.3153A>G (p.Glu1051=)
c.3564A>G (p.Glu1188=)
c.*3206A>G (n.*3206A>G)
n.3589A>G
c.151+6805A>G (n.151+6805A>G)
c.709A>G (n.709A>G)
c.1020A>G (p.Glu340=)
c.3486A>G (p.Glu1162=)
c.656-725A>G (n.656-725A>G)
c.3417A>G (p.Glu1139=)
c.3480A>G (p.Glu1160=)
c.3468A>G (p.Glu1156=)
 ClinVar dbSNP gnomAD v4 COSMIC
2g.144389607T>GCA348699184ZEB2c.*3338A>C (n.*3338A>C)
c.2712A>C (p.Glu904Asp)
c.3489A>C (p.Glu1163Asp)
c.3377A>C (p.Lys1126Thr)
n.3458A>C
c.3153A>C (p.Glu1051Asp)
c.3564A>C (p.Glu1188Asp)
c.*3206A>C (n.*3206A>C)
n.3589A>C
c.151+6805A>C (n.151+6805A>C)
c.709A>C (n.709A>C)
c.1020A>C (p.Glu340Asp)
c.3486A>C (p.Glu1162Asp)
c.656-725A>C (n.656-725A>C)
c.3417A>C (p.Glu1139Asp)
c.3480A>C (p.Glu1160Asp)
c.3468A>C (p.Glu1156Asp)
2g.144389607T=CA1294881265ZEB2c.*3338A= (n.*3338A=)
c.2712A= (p.Glu904=)
c.3489A= (p.Glu1163=)
c.3377A= (p.Lys1126=)
n.3458A=
c.3153A= (p.Glu1051=)
c.3564A= (p.Glu1188=)
c.*3206A= (n.*3206A=)
n.3589A=
c.151+6805A= (n.151+6805A=)
c.709A= (n.709A=)
c.1020A= (p.Glu340=)
c.3486A= (p.Glu1162=)
c.656-725A= (n.656-725A=)
c.3417A= (p.Glu1139=)
c.3480A= (p.Glu1160=)
c.3468A= (p.Glu1156=)
2g.144389608delCA2586969976ZEB2c.*3338del (n.*3338del)
c.2712del (p.Glu905ArgfsTer?)
c.3489del (p.Glu1164ArgfsTer?)
c.3377del (p.Lys1126ArgfsTer5)
n.3458del
c.3153del (p.Glu1052ArgfsTer?)
c.3564del (p.Glu1189ArgfsTer?)
c.*3206del (n.*3206del)
n.3589del
c.151+6805del (n.151+6805del)
c.709del (n.709del)
c.1020del (p.Glu341ArgfsTer?)
c.3486del (p.Glu1163ArgfsTer?)
c.656-725del (n.656-725del)
c.3417del (p.Glu1140ArgfsTer?)
c.3480del (p.Glu1161ArgfsTer?)
c.3468del (p.Glu1157ArgfsTer?)
2g.144389608T>ACA348699185ZEB2c.*3337A>T (n.*3337A>T)
c.2711A>T (p.Glu904Val)
c.3488A>T (p.Glu1163Val)
c.3376A>T (p.Lys1126Ter)
n.3457A>T
c.3152A>T (p.Glu1051Val)
c.3563A>T (p.Glu1188Val)
c.*3205A>T (n.*3205A>T)
n.3588A>T
c.151+6804A>T (n.151+6804A>T)
c.708A>T (n.708A>T)
c.1019A>T (p.Glu340Val)
c.3485A>T (p.Glu1162Val)
c.656-726A>T (n.656-726A>T)
c.3416A>T (p.Glu1139Val)
c.3479A>T (p.Glu1160Val)
c.3467A>T (p.Glu1156Val)
2g.144389608T>CCA348699186ZEB2c.*3337A>G (n.*3337A>G)
c.2711A>G (p.Glu904Gly)
c.3488A>G (p.Glu1163Gly)
c.3376A>G (p.Lys1126Glu)
n.3457A>G
c.3152A>G (p.Glu1051Gly)
c.3563A>G (p.Glu1188Gly)
c.*3205A>G (n.*3205A>G)
n.3588A>G
c.151+6804A>G (n.151+6804A>G)
c.708A>G (n.708A>G)
c.1019A>G (p.Glu340Gly)
c.3485A>G (p.Glu1162Gly)
c.656-726A>G (n.656-726A>G)
c.3416A>G (p.Glu1139Gly)
c.3479A>G (p.Glu1160Gly)
c.3467A>G (p.Glu1156Gly)
2g.144389608T>GCA348699187ZEB2c.*3337A>C (n.*3337A>C)
c.2711A>C (p.Glu904Ala)
c.3488A>C (p.Glu1163Ala)
c.3376A>C (p.Lys1126Gln)
n.3457A>C
c.3152A>C (p.Glu1051Ala)
c.3563A>C (p.Glu1188Ala)
c.*3205A>C (n.*3205A>C)
n.3588A>C
c.151+6804A>C (n.151+6804A>C)
c.708A>C (n.708A>C)
c.1019A>C (p.Glu340Ala)
c.3485A>C (p.Glu1162Ala)
c.656-726A>C (n.656-726A>C)
c.3416A>C (p.Glu1139Ala)
c.3479A>C (p.Glu1160Ala)
c.3467A>C (p.Glu1156Ala)
2g.144389609C>ACA348699188ZEB2c.*3336G>T (n.*3336G>T)
c.2710G>T (p.Glu904Ter)
c.3487G>T (p.Glu1163Ter)
c.3375G>T (p.Arg1125Ser)
n.3456G>T
c.3151G>T (p.Glu1051Ter)
c.3562G>T (p.Glu1188Ter)
c.*3204G>T (n.*3204G>T)
n.3587G>T
c.151+6803G>T (n.151+6803G>T)
c.707G>T (n.707G>T)
c.1018G>T (p.Glu340Ter)
c.3484G>T (p.Glu1162Ter)
c.656-727G>T (n.656-727G>T)
c.3415G>T (p.Glu1139Ter)
c.3478G>T (p.Glu1160Ter)
c.3466G>T (p.Glu1156Ter)
2g.144389609C=CA1294881266ZEB2c.*3336G= (n.*3336G=)
c.2710G= (p.Glu904=)
c.3487G= (p.Glu1163=)
c.3375G= (p.Arg1125=)
n.3456G=
c.3151G= (p.Glu1051=)
c.3562G= (p.Glu1188=)
c.*3204G= (n.*3204G=)
n.3587G=
c.151+6803G= (n.151+6803G=)
c.707G= (n.707G=)
c.1018G= (p.Glu340=)
c.3484G= (p.Glu1162=)
c.656-727G= (n.656-727G=)
c.3415G= (p.Glu1139=)
c.3478G= (p.Glu1160=)
c.3466G= (p.Glu1156=)
2g.144389609C>GCA348699189ZEB2c.*3336G>C (n.*3336G>C)
c.2710G>C (p.Glu904Gln)
c.3487G>C (p.Glu1163Gln)
c.3375G>C (p.Arg1125Ser)
n.3456G>C
c.3151G>C (p.Glu1051Gln)
c.3562G>C (p.Glu1188Gln)
c.*3204G>C (n.*3204G>C)
n.3587G>C
c.151+6803G>C (n.151+6803G>C)
c.707G>C (n.707G>C)
c.1018G>C (p.Glu340Gln)
c.3484G>C (p.Glu1162Gln)
c.656-727G>C (n.656-727G>C)
c.3415G>C (p.Glu1139Gln)
c.3478G>C (p.Glu1160Gln)
c.3466G>C (p.Glu1156Gln)
2g.144389609C>TCA1898109ZEB2c.*3336G>A (n.*3336G>A)
c.2710G>A (p.Glu904Lys)
c.3487G>A (p.Glu1163Lys)
c.3375G>A (p.Arg1125=)
n.3456G>A
c.3151G>A (p.Glu1051Lys)
c.3562G>A (p.Glu1188Lys)
c.*3204G>A (n.*3204G>A)
n.3587G>A
c.151+6803G>A (n.151+6803G>A)
c.707G>A (n.707G>A)
c.1018G>A (p.Glu340Lys)
c.3484G>A (p.Glu1162Lys)
c.656-727G>A (n.656-727G>A)
c.3415G>A (p.Glu1139Lys)
c.3478G>A (p.Glu1160Lys)
c.3466G>A (p.Glu1156Lys)
 dbSNP ExAC
2g.144389610C>ACA348699190ZEB2c.*3335G>T (n.*3335G>T)
c.2709G>T (p.Glu903Asp)
c.3486G>T (p.Glu1162Asp)
c.3374G>T (p.Arg1125Met)
n.3455G>T
c.3150G>T (p.Glu1050Asp)
c.3561G>T (p.Glu1187Asp)
c.*3203G>T (n.*3203G>T)
n.3586G>T
c.151+6802G>T (n.151+6802G>T)
c.706G>T (n.706G>T)
c.1017G>T (p.Glu339Asp)
c.3483G>T (p.Glu1161Asp)
c.656-728G>T (n.656-728G>T)
c.3414G>T (p.Glu1138Asp)
c.3477G>T (p.Glu1159Asp)
c.3465G>T (p.Glu1155Asp)
2g.144389610C>GCA348699191ZEB2c.*3335G>C (n.*3335G>C)
c.2709G>C (p.Glu903Asp)
c.3486G>C (p.Glu1162Asp)
c.3374G>C (p.Arg1125Thr)
n.3455G>C
c.3150G>C (p.Glu1050Asp)
c.3561G>C (p.Glu1187Asp)
c.*3203G>C (n.*3203G>C)
n.3586G>C
c.151+6802G>C (n.151+6802G>C)
c.706G>C (n.706G>C)
c.1017G>C (p.Glu339Asp)
c.3483G>C (p.Glu1161Asp)
c.656-728G>C (n.656-728G>C)
c.3414G>C (p.Glu1138Asp)
c.3477G>C (p.Glu1159Asp)
c.3465G>C (p.Glu1155Asp)
2g.144389610C>TCA429441100ZEB2c.*3335G>A (n.*3335G>A)
c.2709G>A (p.Glu903=)
c.3486G>A (p.Glu1162=)
c.3374G>A (p.Arg1125Lys)
n.3455G>A
c.3150G>A (p.Glu1050=)
c.3561G>A (p.Glu1187=)
c.*3203G>A (n.*3203G>A)
n.3586G>A
c.151+6802G>A (n.151+6802G>A)
c.706G>A (n.706G>A)
c.1017G>A (p.Glu339=)
c.3483G>A (p.Glu1161=)
c.656-728G>A (n.656-728G>A)
c.3414G>A (p.Glu1138=)
c.3477G>A (p.Glu1159=)
c.3465G>A (p.Glu1155=)
2g.144389611T>ACA348699192ZEB2c.*3334A>T (n.*3334A>T)
c.2708A>T (p.Glu903Val)
c.3485A>T (p.Glu1162Val)
c.3373A>T (p.Arg1125Trp)
n.3454A>T
c.3149A>T (p.Glu1050Val)
c.3560A>T (p.Glu1187Val)
c.*3202A>T (n.*3202A>T)
n.3585A>T
c.151+6801A>T (n.151+6801A>T)
c.705A>T (n.705A>T)
c.1016A>T (p.Glu339Val)
c.3482A>T (p.Glu1161Val)
c.656-729A>T (n.656-729A>T)
c.3413A>T (p.Glu1138Val)
c.3476A>T (p.Glu1159Val)
c.3464A>T (p.Glu1155Val)
2g.144389611T>CCA348699193ZEB2c.*3334A>G (n.*3334A>G)
c.2708A>G (p.Glu903Gly)
c.3485A>G (p.Glu1162Gly)
c.3373A>G (p.Arg1125Gly)
n.3454A>G
c.3149A>G (p.Glu1050Gly)
c.3560A>G (p.Glu1187Gly)
c.*3202A>G (n.*3202A>G)
n.3585A>G
c.151+6801A>G (n.151+6801A>G)
c.705A>G (n.705A>G)
c.1016A>G (p.Glu339Gly)
c.3482A>G (p.Glu1161Gly)
c.656-729A>G (n.656-729A>G)
c.3413A>G (p.Glu1138Gly)
c.3476A>G (p.Glu1159Gly)
c.3464A>G (p.Glu1155Gly)
2g.144389611T>GCA348699194ZEB2c.*3334A>C (n.*3334A>C)
c.2708A>C (p.Glu903Ala)
c.3485A>C (p.Glu1162Ala)
c.3373A>C (p.Arg1125=)
n.3454A>C
c.3149A>C (p.Glu1050Ala)
c.3560A>C (p.Glu1187Ala)
c.*3202A>C (n.*3202A>C)
n.3585A>C
c.151+6801A>C (n.151+6801A>C)
c.705A>C (n.705A>C)
c.1016A>C (p.Glu339Ala)
c.3482A>C (p.Glu1161Ala)
c.656-729A>C (n.656-729A>C)
c.3413A>C (p.Glu1138Ala)
c.3476A>C (p.Glu1159Ala)
c.3464A>C (p.Glu1155Ala)
2g.144389612C>ACA348699197ZEB2c.*3333G>T (n.*3333G>T)
c.2707G>T (p.Glu903Ter)
c.3484G>T (p.Glu1162Ter)
c.3372G>T (p.Arg1124Ser)
n.3453G>T
c.3148G>T (p.Glu1050Ter)
c.3559G>T (p.Glu1187Ter)
c.*3201G>T (n.*3201G>T)
n.3584G>T
c.151+6800G>T (n.151+6800G>T)
c.704G>T (n.704G>T)
c.1015G>T (p.Glu339Ter)
c.3481G>T (p.Glu1161Ter)
c.656-730G>T (n.656-730G>T)
c.3412G>T (p.Glu1138Ter)
c.3475G>T (p.Glu1159Ter)
c.3463G>T (p.Glu1155Ter)
2g.144389612C>GCA348699196ZEB2c.*3333G>C (n.*3333G>C)
c.2707G>C (p.Glu903Gln)
c.3484G>C (p.Glu1162Gln)
c.3372G>C (p.Arg1124Ser)
n.3453G>C
c.3148G>C (p.Glu1050Gln)
c.3559G>C (p.Glu1187Gln)
c.*3201G>C (n.*3201G>C)
n.3584G>C
c.151+6800G>C (n.151+6800G>C)
c.704G>C (n.704G>C)
c.1015G>C (p.Glu339Gln)
c.3481G>C (p.Glu1161Gln)
c.656-730G>C (n.656-730G>C)
c.3412G>C (p.Glu1138Gln)
c.3475G>C (p.Glu1159Gln)
c.3463G>C (p.Glu1155Gln)
2g.144389612C>TCA348699195ZEB2c.*3333G>A (n.*3333G>A)
c.2707G>A (p.Glu903Lys)
c.3484G>A (p.Glu1162Lys)
c.3372G>A (p.Arg1124=)
n.3453G>A
c.3148G>A (p.Glu1050Lys)
c.3559G>A (p.Glu1187Lys)
c.*3201G>A (n.*3201G>A)
n.3584G>A
c.151+6800G>A (n.151+6800G>A)
c.704G>A (n.704G>A)
c.1015G>A (p.Glu339Lys)
c.3481G>A (p.Glu1161Lys)
c.656-730G>A (n.656-730G>A)
c.3412G>A (p.Glu1138Lys)
c.3475G>A (p.Glu1159Lys)
c.3463G>A (p.Glu1155Lys)
2g.144389613C>ACA348699199ZEB2c.*3332G>T (n.*3332G>T)
c.2706G>T (p.Glu902Asp)
c.3483G>T (p.Glu1161Asp)
c.3371G>T (p.Arg1124Met)
n.3452G>T
c.3147G>T (p.Glu1049Asp)
c.3558G>T (p.Glu1186Asp)
c.*3200G>T (n.*3200G>T)
n.3583G>T
c.151+6799G>T (n.151+6799G>T)
c.703G>T (n.703G>T)
c.1014G>T (p.Glu338Asp)
c.3480G>T (p.Glu1160Asp)
c.656-731G>T (n.656-731G>T)
c.3411G>T (p.Glu1137Asp)
c.3474G>T (p.Glu1158Asp)
c.3462G>T (p.Glu1154Asp)
2g.144389613C>GCA348699198ZEB2c.*3332G>C (n.*3332G>C)
c.2706G>C (p.Glu902Asp)
c.3483G>C (p.Glu1161Asp)
c.3371G>C (p.Arg1124Thr)
n.3452G>C
c.3147G>C (p.Glu1049Asp)
c.3558G>C (p.Glu1186Asp)
c.*3200G>C (n.*3200G>C)
n.3583G>C
c.151+6799G>C (n.151+6799G>C)
c.703G>C (n.703G>C)
c.1014G>C (p.Glu338Asp)
c.3480G>C (p.Glu1160Asp)
c.656-731G>C (n.656-731G>C)
c.3411G>C (p.Glu1137Asp)
c.3474G>C (p.Glu1158Asp)
c.3462G>C (p.Glu1154Asp)
2g.144389613C>TCA429441102ZEB2c.*3332G>A (n.*3332G>A)
c.2706G>A (p.Glu902=)
c.3483G>A (p.Glu1161=)
c.3371G>A (p.Arg1124Lys)
n.3452G>A
c.3147G>A (p.Glu1049=)
c.3558G>A (p.Glu1186=)
c.*3200G>A (n.*3200G>A)
n.3583G>A
c.151+6799G>A (n.151+6799G>A)
c.703G>A (n.703G>A)
c.1014G>A (p.Glu338=)
c.3480G>A (p.Glu1160=)
c.656-731G>A (n.656-731G>A)
c.3411G>A (p.Glu1137=)
c.3474G>A (p.Glu1158=)
c.3462G>A (p.Glu1154=)
 gnomAD v4
2g.144389614T>ACA348699200ZEB2c.*3331A>T (n.*3331A>T)
c.2705A>T (p.Glu902Val)
c.3482A>T (p.Glu1161Val)
c.3370A>T (p.Arg1124Trp)
n.3451A>T
c.3146A>T (p.Glu1049Val)
c.3557A>T (p.Glu1186Val)
c.*3199A>T (n.*3199A>T)
n.3582A>T
c.151+6798A>T (n.151+6798A>T)
c.702A>T (n.702A>T)
c.1013A>T (p.Glu338Val)
c.3479A>T (p.Glu1160Val)
c.656-732A>T (n.656-732A>T)
c.3410A>T (p.Glu1137Val)
c.3473A>T (p.Glu1158Val)
c.3461A>T (p.Glu1154Val)
2g.144389614T>CCA348699201ZEB2c.*3331A>G (n.*3331A>G)
c.2705A>G (p.Glu902Gly)
c.3482A>G (p.Glu1161Gly)
c.3370A>G (p.Arg1124Gly)
n.3451A>G
c.3146A>G (p.Glu1049Gly)
c.3557A>G (p.Glu1186Gly)
c.*3199A>G (n.*3199A>G)
n.3582A>G
c.151+6798A>G (n.151+6798A>G)
c.702A>G (n.702A>G)
c.1013A>G (p.Glu338Gly)
c.3479A>G (p.Glu1160Gly)
c.656-732A>G (n.656-732A>G)
c.3410A>G (p.Glu1137Gly)
c.3473A>G (p.Glu1158Gly)
c.3461A>G (p.Glu1154Gly)
2g.144389614T>GCA348699202ZEB2c.*3331A>C (n.*3331A>C)
c.2705A>C (p.Glu902Ala)
c.3482A>C (p.Glu1161Ala)
c.3370A>C (p.Arg1124=)
n.3451A>C
c.3146A>C (p.Glu1049Ala)
c.3557A>C (p.Glu1186Ala)
c.*3199A>C (n.*3199A>C)
n.3582A>C
c.151+6798A>C (n.151+6798A>C)
c.702A>C (n.702A>C)
c.1013A>C (p.Glu338Ala)
c.3479A>C (p.Glu1160Ala)
c.656-732A>C (n.656-732A>C)
c.3410A>C (p.Glu1137Ala)
c.3473A>C (p.Glu1158Ala)
c.3461A>C (p.Glu1154Ala)
2g.144389615C>ACA348699203ZEB2c.*3330G>T (n.*3330G>T)
c.2704G>T (p.Glu902Ter)
c.3481G>T (p.Glu1161Ter)
c.3369G>T (p.Ser1123=)
n.3450G>T
c.3145G>T (p.Glu1049Ter)
c.3556G>T (p.Glu1186Ter)
c.*3198G>T (n.*3198G>T)
n.3581G>T
c.151+6797G>T (n.151+6797G>T)
c.701G>T (n.701G>T)
c.1012G>T (p.Glu338Ter)
c.3478G>T (p.Glu1160Ter)
c.656-733G>T (n.656-733G>T)
c.3409G>T (p.Glu1137Ter)
c.3472G>T (p.Glu1158Ter)
c.3460G>T (p.Glu1154Ter)
2g.144389615C>GCA348699204ZEB2c.*3330G>C (n.*3330G>C)
c.2704G>C (p.Glu902Gln)
c.3481G>C (p.Glu1161Gln)
c.3369G>C (p.Ser1123=)
n.3450G>C
c.3145G>C (p.Glu1049Gln)
c.3556G>C (p.Glu1186Gln)
c.*3198G>C (n.*3198G>C)
n.3581G>C
c.151+6797G>C (n.151+6797G>C)
c.701G>C (n.701G>C)
c.1012G>C (p.Glu338Gln)
c.3478G>C (p.Glu1160Gln)
c.656-733G>C (n.656-733G>C)
c.3409G>C (p.Glu1137Gln)
c.3472G>C (p.Glu1158Gln)
c.3460G>C (p.Glu1154Gln)
2g.144389615C>TCA348699205ZEB2c.*3330G>A (n.*3330G>A)
c.2704G>A (p.Glu902Lys)
c.3481G>A (p.Glu1161Lys)
c.3369G>A (p.Ser1123=)
n.3450G>A
c.3145G>A (p.Glu1049Lys)
c.3556G>A (p.Glu1186Lys)
c.*3198G>A (n.*3198G>A)
n.3581G>A
c.151+6797G>A (n.151+6797G>A)
c.701G>A (n.701G>A)
c.1012G>A (p.Glu338Lys)
c.3478G>A (p.Glu1160Lys)
c.656-733G>A (n.656-733G>A)
c.3409G>A (p.Glu1137Lys)
c.3472G>A (p.Glu1158Lys)
c.3460G>A (p.Glu1154Lys)
 gnomAD v4
2g.144389616G>ACA429441103ZEB2c.*3329C>T (n.*3329C>T)
c.2703C>T (p.Phe901=)
c.3480C>T (p.Phe1160=)
c.3368C>T (p.Ser1123Leu)
n.3449C>T
c.3144C>T (p.Phe1048=)
c.3555C>T (p.Phe1185=)
c.*3197C>T (n.*3197C>T)
n.3580C>T
c.151+6796C>T (n.151+6796C>T)
c.700C>T (n.700C>T)
c.1011C>T (p.Phe337=)
c.3477C>T (p.Phe1159=)
c.656-734C>T (n.656-734C>T)
c.3408C>T (p.Phe1136=)
c.3471C>T (p.Phe1157=)
c.3459C>T (p.Phe1153=)
 ClinVar dbSNP gnomAD v4 COSMIC
2g.144389616G>CCA348699206ZEB2c.*3329C>G (n.*3329C>G)
c.2703C>G (p.Phe901Leu)
c.3480C>G (p.Phe1160Leu)
c.3368C>G (p.Ser1123Trp)
n.3449C>G
c.3144C>G (p.Phe1048Leu)
c.3555C>G (p.Phe1185Leu)
c.*3197C>G (n.*3197C>G)
n.3580C>G
c.151+6796C>G (n.151+6796C>G)
c.700C>G (n.700C>G)
c.1011C>G (p.Phe337Leu)
c.3477C>G (p.Phe1159Leu)
c.656-734C>G (n.656-734C>G)
c.3408C>G (p.Phe1136Leu)
c.3471C>G (p.Phe1157Leu)
c.3459C>G (p.Phe1153Leu)
 dbSNP gnomAD v3 gnomAD v4
2g.144389616G=CA1294881267ZEB2c.*3329C= (n.*3329C=)
c.2703C= (p.Phe901=)
c.3480C= (p.Phe1160=)
c.3368C= (p.Ser1123=)
n.3449C=
c.3144C= (p.Phe1048=)
c.3555C= (p.Phe1185=)
c.*3197C= (n.*3197C=)
n.3580C=
c.151+6796C= (n.151+6796C=)
c.700C= (n.700C=)
c.1011C= (p.Phe337=)
c.3477C= (p.Phe1159=)
c.656-734C= (n.656-734C=)
c.3408C= (p.Phe1136=)
c.3471C= (p.Phe1157=)
c.3459C= (p.Phe1153=)
2g.144389616G>TCA348699207ZEB2c.*3329C>A (n.*3329C>A)
c.2703C>A (p.Phe901Leu)
c.3480C>A (p.Phe1160Leu)
c.3368C>A (p.Ser1123Ter)
n.3449C>A
c.3144C>A (p.Phe1048Leu)
c.3555C>A (p.Phe1185Leu)
c.*3197C>A (n.*3197C>A)
n.3580C>A
c.151+6796C>A (n.151+6796C>A)
c.700C>A (n.700C>A)
c.1011C>A (p.Phe337Leu)
c.3477C>A (p.Phe1159Leu)
c.656-734C>A (n.656-734C>A)
c.3408C>A (p.Phe1136Leu)
c.3471C>A (p.Phe1157Leu)
c.3459C>A (p.Phe1153Leu)
 dbSNP gnomAD v2 gnomAD v4
2g.144389616_144389618delinsTTCCA2739271216ZEB2c.*3327_*3329delinsGAA (n.*3327_*3329delinsGAA)
c.2701_2703delinsGAA (p.Phe901Glu)
c.3478_3480delinsGAA (p.Phe1160Glu)
c.3366_3368delinsGAA (p.Ser1122_Ser1123delinsArgLys)
n.3447_3449delinsGAA
c.3142_3144delinsGAA (p.Phe1048Glu)
c.3553_3555delinsGAA (p.Phe1185Glu)
c.*3195_*3197delinsGAA (n.*3195_*3197delinsGAA)
n.3578_3580delinsGAA
c.151+6794_151+6796delinsGAA (n.151+6794_151+6796delinsGAA)
c.698_700delinsGAA (n.698_700delinsGAA)
c.1009_1011delinsGAA (p.Phe337Glu)
c.3475_3477delinsGAA (p.Phe1159Glu)
c.656-736_656-734delinsGAA (n.656-736_656-734delinsGAA)
c.3406_3408delinsGAA (p.Phe1136Glu)
c.3469_3471delinsGAA (p.Phe1157Glu)
c.3457_3459delinsGAA (p.Phe1153Glu)
 ClinVar
2g.144389617A=CA1294881268ZEB2c.*3328T= (n.*3328T=)
c.2702T= (p.Phe901=)
c.3479T= (p.Phe1160=)
c.3367T= (p.Ser1123=)
n.3448T=
c.3143T= (p.Phe1048=)
c.3554T= (p.Phe1185=)
c.*3196T= (n.*3196T=)
n.3579T=
c.151+6795T= (n.151+6795T=)
c.699T= (n.699T=)
c.1010T= (p.Phe337=)
c.3476T= (p.Phe1159=)
c.656-735T= (n.656-735T=)
c.3407T= (p.Phe1136=)
c.3470T= (p.Phe1157=)
c.3458T= (p.Phe1153=)
2g.144389617A>CCA348699208ZEB2c.*3328T>G (n.*3328T>G)
c.2702T>G (p.Phe901Cys)
c.3479T>G (p.Phe1160Cys)
c.3367T>G (p.Ser1123Ala)
n.3448T>G
c.3143T>G (p.Phe1048Cys)
c.3554T>G (p.Phe1185Cys)
c.*3196T>G (n.*3196T>G)
n.3579T>G
c.151+6795T>G (n.151+6795T>G)
c.699T>G (n.699T>G)
c.1010T>G (p.Phe337Cys)
c.3476T>G (p.Phe1159Cys)
c.656-735T>G (n.656-735T>G)
c.3407T>G (p.Phe1136Cys)
c.3470T>G (p.Phe1157Cys)
c.3458T>G (p.Phe1153Cys)
2g.144389617A>GCA348699209ZEB2c.*3328T>C (n.*3328T>C)
c.2702T>C (p.Phe901Ser)
c.3479T>C (p.Phe1160Ser)
c.3367T>C (p.Ser1123Pro)
n.3448T>C
c.3143T>C (p.Phe1048Ser)
c.3554T>C (p.Phe1185Ser)
c.*3196T>C (n.*3196T>C)
n.3579T>C
c.151+6795T>C (n.151+6795T>C)
c.699T>C (n.699T>C)
c.1010T>C (p.Phe337Ser)
c.3476T>C (p.Phe1159Ser)
c.656-735T>C (n.656-735T>C)
c.3407T>C (p.Phe1136Ser)
c.3470T>C (p.Phe1157Ser)
c.3458T>C (p.Phe1153Ser)
2g.144389617A>TCA348699210ZEB2c.*3328T>A (n.*3328T>A)
c.2702T>A (p.Phe901Tyr)
c.3479T>A (p.Phe1160Tyr)
c.3367T>A (p.Ser1123Thr)
n.3448T>A
c.3143T>A (p.Phe1048Tyr)
c.3554T>A (p.Phe1185Tyr)
c.*3196T>A (n.*3196T>A)
n.3579T>A
c.151+6795T>A (n.151+6795T>A)
c.699T>A (n.699T>A)
c.1010T>A (p.Phe337Tyr)
c.3476T>A (p.Phe1159Tyr)
c.656-735T>A (n.656-735T>A)
c.3407T>A (p.Phe1136Tyr)
c.3470T>A (p.Phe1157Tyr)
c.3458T>A (p.Phe1153Tyr)
 dbSNP gnomAD v2 gnomAD v4
2g.144389618A=CA1294881269ZEB2c.*3327T= (n.*3327T=)
c.2701T= (p.Phe901=)
c.3478T= (p.Phe1160=)
c.3366T= (p.Ser1122=)
n.3447T=
c.3142T= (p.Phe1048=)
c.3553T= (p.Phe1185=)
c.*3195T= (n.*3195T=)
n.3578T=
c.151+6794T= (n.151+6794T=)
c.698T= (n.698T=)
c.1009T= (p.Phe337=)
c.3475T= (p.Phe1159=)
c.656-736T= (n.656-736T=)
c.3406T= (p.Phe1136=)
c.3469T= (p.Phe1157=)
c.3457T= (p.Phe1153=)
2g.144389618A>CCA348699212ZEB2c.*3327T>G (n.*3327T>G)
c.2701T>G (p.Phe901Val)
c.3478T>G (p.Phe1160Val)
c.3366T>G (p.Ser1122Arg)
n.3447T>G
c.3142T>G (p.Phe1048Val)
c.3553T>G (p.Phe1185Val)
c.*3195T>G (n.*3195T>G)
n.3578T>G
c.151+6794T>G (n.151+6794T>G)
c.698T>G (n.698T>G)
c.1009T>G (p.Phe337Val)
c.3475T>G (p.Phe1159Val)
c.656-736T>G (n.656-736T>G)
c.3406T>G (p.Phe1136Val)
c.3469T>G (p.Phe1157Val)
c.3457T>G (p.Phe1153Val)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.144389618A>GCA348699213ZEB2c.*3327T>C (n.*3327T>C)
c.2701T>C (p.Phe901Leu)
c.3478T>C (p.Phe1160Leu)
c.3366T>C (p.Ser1122=)
n.3447T>C
c.3142T>C (p.Phe1048Leu)
c.3553T>C (p.Phe1185Leu)
c.*3195T>C (n.*3195T>C)
n.3578T>C
c.151+6794T>C (n.151+6794T>C)
c.698T>C (n.698T>C)
c.1009T>C (p.Phe337Leu)
c.3475T>C (p.Phe1159Leu)
c.656-736T>C (n.656-736T>C)
c.3406T>C (p.Phe1136Leu)
c.3469T>C (p.Phe1157Leu)
c.3457T>C (p.Phe1153Leu)
2g.144389618A>TCA348699211ZEB2c.*3327T>A (n.*3327T>A)
c.2701T>A (p.Phe901Ile)
c.3478T>A (p.Phe1160Ile)
c.3366T>A (p.Ser1122Arg)
n.3447T>A
c.3142T>A (p.Phe1048Ile)
c.3553T>A (p.Phe1185Ile)
c.*3195T>A (n.*3195T>A)
n.3578T>A
c.151+6794T>A (n.151+6794T>A)
c.698T>A (n.698T>A)
c.1009T>A (p.Phe337Ile)
c.3475T>A (p.Phe1159Ile)
c.656-736T>A (n.656-736T>A)
c.3406T>A (p.Phe1136Ile)
c.3469T>A (p.Phe1157Ile)
c.3457T>A (p.Phe1153Ile)
 gnomAD v3 gnomAD v4
2g.144389619C>ACA348699214ZEB2c.*3326G>T (n.*3326G>T)
c.2700G>T (p.Glu900Asp)
c.3477G>T (p.Glu1159Asp)
c.3365G>T (p.Ser1122Ile)
n.3446G>T
c.3141G>T (p.Glu1047Asp)
c.3552G>T (p.Glu1184Asp)
c.*3194G>T (n.*3194G>T)
n.3577G>T
c.151+6793G>T (n.151+6793G>T)
c.697G>T (n.697G>T)
c.1008G>T (p.Glu336Asp)
c.3474G>T (p.Glu1158Asp)
c.656-737G>T (n.656-737G>T)
c.3405G>T (p.Glu1135Asp)
c.3468G>T (p.Glu1156Asp)
c.3456G>T (p.Glu1152Asp)
2g.144389619C=CA1294881270ZEB2c.*3326G= (n.*3326G=)
c.2700G= (p.Glu900=)
c.3477G= (p.Glu1159=)
c.3365G= (p.Ser1122=)
n.3446G=
c.3141G= (p.Glu1047=)
c.3552G= (p.Glu1184=)
c.*3194G= (n.*3194G=)
n.3577G=
c.151+6793G= (n.151+6793G=)
c.697G= (n.697G=)
c.1008G= (p.Glu336=)
c.3474G= (p.Glu1158=)
c.656-737G= (n.656-737G=)
c.3405G= (p.Glu1135=)
c.3468G= (p.Glu1156=)
c.3456G= (p.Glu1152=)
2g.144389619C>GCA348699215ZEB2c.*3326G>C (n.*3326G>C)
c.2700G>C (p.Glu900Asp)
c.3477G>C (p.Glu1159Asp)
c.3365G>C (p.Ser1122Thr)
n.3446G>C
c.3141G>C (p.Glu1047Asp)
c.3552G>C (p.Glu1184Asp)
c.*3194G>C (n.*3194G>C)
n.3577G>C
c.151+6793G>C (n.151+6793G>C)
c.697G>C (n.697G>C)
c.1008G>C (p.Glu336Asp)
c.3474G>C (p.Glu1158Asp)
c.656-737G>C (n.656-737G>C)
c.3405G>C (p.Glu1135Asp)
c.3468G>C (p.Glu1156Asp)
c.3456G>C (p.Glu1152Asp)
2g.144389619C>TCA1898110ZEB2c.*3326G>A (n.*3326G>A)
c.2700G>A (p.Glu900=)
c.3477G>A (p.Glu1159=)
c.3365G>A (p.Ser1122Asn)
n.3446G>A
c.3141G>A (p.Glu1047=)
c.3552G>A (p.Glu1184=)
c.*3194G>A (n.*3194G>A)
n.3577G>A
c.151+6793G>A (n.151+6793G>A)
c.697G>A (n.697G>A)
c.1008G>A (p.Glu336=)
c.3474G>A (p.Glu1158=)
c.656-737G>A (n.656-737G>A)
c.3405G>A (p.Glu1135=)
c.3468G>A (p.Glu1156=)
c.3456G>A (p.Glu1152=)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.144389620T>ACA348699216ZEB2c.*3325A>T (n.*3325A>T)
c.2699A>T (p.Glu900Val)
c.3476A>T (p.Glu1159Val)
c.3364A>T (p.Ser1122Cys)
n.3445A>T
c.3140A>T (p.Glu1047Val)
c.3551A>T (p.Glu1184Val)
c.*3193A>T (n.*3193A>T)
n.3576A>T
c.151+6792A>T (n.151+6792A>T)
c.696A>T (n.696A>T)
c.1007A>T (p.Glu336Val)
c.3473A>T (p.Glu1158Val)
c.656-738A>T (n.656-738A>T)
c.3404A>T (p.Glu1135Val)
c.3467A>T (p.Glu1156Val)
c.3455A>T (p.Glu1152Val)
2g.144389620T>CCA348699217ZEB2c.*3325A>G (n.*3325A>G)
c.2699A>G (p.Glu900Gly)
c.3476A>G (p.Glu1159Gly)
c.3364A>G (p.Ser1122Gly)
n.3445A>G
c.3140A>G (p.Glu1047Gly)
c.3551A>G (p.Glu1184Gly)
c.*3193A>G (n.*3193A>G)
n.3576A>G
c.151+6792A>G (n.151+6792A>G)
c.696A>G (n.696A>G)
c.1007A>G (p.Glu336Gly)
c.3473A>G (p.Glu1158Gly)
c.656-738A>G (n.656-738A>G)
c.3404A>G (p.Glu1135Gly)
c.3467A>G (p.Glu1156Gly)
c.3455A>G (p.Glu1152Gly)
2g.144389620T>GCA348699218ZEB2c.*3325A>C (n.*3325A>C)
c.2699A>C (p.Glu900Ala)
c.3476A>C (p.Glu1159Ala)
c.3364A>C (p.Ser1122Arg)
n.3445A>C
c.3140A>C (p.Glu1047Ala)
c.3551A>C (p.Glu1184Ala)
c.*3193A>C (n.*3193A>C)
n.3576A>C
c.151+6792A>C (n.151+6792A>C)
c.696A>C (n.696A>C)
c.1007A>C (p.Glu336Ala)
c.3473A>C (p.Glu1158Ala)
c.656-738A>C (n.656-738A>C)
c.3404A>C (p.Glu1135Ala)
c.3467A>C (p.Glu1156Ala)
c.3455A>C (p.Glu1152Ala)
2g.144389621C>ACA348699219ZEB2c.*3324G>T (n.*3324G>T)
c.2698G>T (p.Glu900Ter)
c.3475G>T (p.Glu1159Ter)
c.3363G>T (p.Arg1121Ser)
n.3444G>T
c.3139G>T (p.Glu1047Ter)
c.3550G>T (p.Glu1184Ter)
c.*3192G>T (n.*3192G>T)
n.3575G>T
c.151+6791G>T (n.151+6791G>T)
c.695G>T (n.695G>T)
c.1006G>T (p.Glu336Ter)
c.3472G>T (p.Glu1158Ter)
c.656-739G>T (n.656-739G>T)
c.3403G>T (p.Glu1135Ter)
c.3466G>T (p.Glu1156Ter)
c.3454G>T (p.Glu1152Ter)
2g.144389621C>GCA348699221ZEB2c.*3324G>C (n.*3324G>C)
c.2698G>C (p.Glu900Gln)
c.3475G>C (p.Glu1159Gln)
c.3363G>C (p.Arg1121Ser)
n.3444G>C
c.3139G>C (p.Glu1047Gln)
c.3550G>C (p.Glu1184Gln)
c.*3192G>C (n.*3192G>C)
n.3575G>C
c.151+6791G>C (n.151+6791G>C)
c.695G>C (n.695G>C)
c.1006G>C (p.Glu336Gln)
c.3472G>C (p.Glu1158Gln)
c.656-739G>C (n.656-739G>C)
c.3403G>C (p.Glu1135Gln)
c.3466G>C (p.Glu1156Gln)
c.3454G>C (p.Glu1152Gln)
2g.144389621C>TCA348699220ZEB2c.*3324G>A (n.*3324G>A)
c.2698G>A (p.Glu900Lys)
c.3475G>A (p.Glu1159Lys)
c.3363G>A (p.Arg1121=)
n.3444G>A
c.3139G>A (p.Glu1047Lys)
c.3550G>A (p.Glu1184Lys)
c.*3192G>A (n.*3192G>A)
n.3575G>A
c.151+6791G>A (n.151+6791G>A)
c.695G>A (n.695G>A)
c.1006G>A (p.Glu336Lys)
c.3472G>A (p.Glu1158Lys)
c.656-739G>A (n.656-739G>A)
c.3403G>A (p.Glu1135Lys)
c.3466G>A (p.Glu1156Lys)
c.3454G>A (p.Glu1152Lys)
2g.144389622C>ACA348699222ZEB2c.*3323G>T (n.*3323G>T)
c.2697G>T (p.Glu899Asp)
c.3474G>T (p.Glu1158Asp)
c.3362G>T (p.Arg1121Met)
n.3443G>T
c.3138G>T (p.Glu1046Asp)
c.3549G>T (p.Glu1183Asp)
c.*3191G>T (n.*3191G>T)
n.3574G>T
c.151+6790G>T (n.151+6790G>T)
c.694G>T (n.694G>T)
c.1005G>T (p.Glu335Asp)
c.3471G>T (p.Glu1157Asp)
c.656-740G>T (n.656-740G>T)
c.3402G>T (p.Glu1134Asp)
c.3465G>T (p.Glu1155Asp)
c.3453G>T (p.Glu1151Asp)
2g.144389622C=CA1294881271ZEB2c.*3323G= (n.*3323G=)
c.2697G= (p.Glu899=)
c.3474G= (p.Glu1158=)
c.3362G= (p.Arg1121=)
n.3443G=
c.3138G= (p.Glu1046=)
c.3549G= (p.Glu1183=)
c.*3191G= (n.*3191G=)
n.3574G=
c.151+6790G= (n.151+6790G=)
c.694G= (n.694G=)
c.1005G= (p.Glu335=)
c.3471G= (p.Glu1157=)
c.656-740G= (n.656-740G=)
c.3402G= (p.Glu1134=)
c.3465G= (p.Glu1155=)
c.3453G= (p.Glu1151=)
2g.144389622C>GCA348699223ZEB2c.*3323G>C (n.*3323G>C)
c.2697G>C (p.Glu899Asp)
c.3474G>C (p.Glu1158Asp)
c.3362G>C (p.Arg1121Thr)
n.3443G>C
c.3138G>C (p.Glu1046Asp)
c.3549G>C (p.Glu1183Asp)
c.*3191G>C (n.*3191G>C)
n.3574G>C
c.151+6790G>C (n.151+6790G>C)
c.694G>C (n.694G>C)
c.1005G>C (p.Glu335Asp)
c.3471G>C (p.Glu1157Asp)
c.656-740G>C (n.656-740G>C)
c.3402G>C (p.Glu1134Asp)
c.3465G>C (p.Glu1155Asp)
c.3453G>C (p.Glu1151Asp)
2g.144389622C>TCA429441104ZEB2c.*3323G>A (n.*3323G>A)
c.2697G>A (p.Glu899=)
c.3474G>A (p.Glu1158=)
c.3362G>A (p.Arg1121Lys)
n.3443G>A
c.3138G>A (p.Glu1046=)
c.3549G>A (p.Glu1183=)
c.*3191G>A (n.*3191G>A)
n.3574G>A
c.151+6790G>A (n.151+6790G>A)
c.694G>A (n.694G>A)
c.1005G>A (p.Glu335=)
c.3471G>A (p.Glu1157=)
c.656-740G>A (n.656-740G>A)
c.3402G>A (p.Glu1134=)
c.3465G>A (p.Glu1155=)
c.3453G>A (p.Glu1151=)
 dbSNP gnomAD v2 gnomAD v4
2g.144389623_144389624dupCA2586969977ZEB2c.*3322_*3323dup (n.*3322_*3323dup)
c.2696_2697dup (p.Glu900ArgfsTer?)
c.3473_3474dup (p.Glu1159ArgfsTer?)
c.3361_3362dup (p.Ser1122GlyfsTer10)
n.3442_3443dup
c.3137_3138dup (p.Glu1047ArgfsTer?)
c.3548_3549dup (p.Glu1184ArgfsTer?)
c.*3190_*3191dup (n.*3190_*3191dup)
n.3573_3574dup
c.151+6789_151+6790dup (n.151+6789_151+6790dup)
c.693_694dup (n.693_694dup)
c.1004_1005dup (p.Glu336ArgfsTer?)
c.3470_3471dup (p.Glu1158ArgfsTer?)
c.656-741_656-740dup (n.656-741_656-740dup)
c.3401_3402dup (p.Glu1135ArgfsTer?)
c.3464_3465dup (p.Glu1156ArgfsTer?)
c.3452_3453dup (p.Glu1152ArgfsTer?)
2g.144389623T>ACA348699224ZEB2c.*3322A>T (n.*3322A>T)
c.2696A>T (p.Glu899Val)
c.3473A>T (p.Glu1158Val)
c.3361A>T (p.Arg1121Trp)
n.3442A>T
c.3137A>T (p.Glu1046Val)
c.3548A>T (p.Glu1183Val)
c.*3190A>T (n.*3190A>T)
n.3573A>T
c.151+6789A>T (n.151+6789A>T)
c.693A>T (n.693A>T)
c.1004A>T (p.Glu335Val)
c.3470A>T (p.Glu1157Val)
c.656-741A>T (n.656-741A>T)
c.3401A>T (p.Glu1134Val)
c.3464A>T (p.Glu1155Val)
c.3452A>T (p.Glu1151Val)
2g.144389623T>CCA348699225ZEB2c.*3322A>G (n.*3322A>G)
c.2696A>G (p.Glu899Gly)
c.3473A>G (p.Glu1158Gly)
c.3361A>G (p.Arg1121Gly)
n.3442A>G
c.3137A>G (p.Glu1046Gly)
c.3548A>G (p.Glu1183Gly)
c.*3190A>G (n.*3190A>G)
n.3573A>G
c.151+6789A>G (n.151+6789A>G)
c.693A>G (n.693A>G)
c.1004A>G (p.Glu335Gly)
c.3470A>G (p.Glu1157Gly)
c.656-741A>G (n.656-741A>G)
c.3401A>G (p.Glu1134Gly)
c.3464A>G (p.Glu1155Gly)
c.3452A>G (p.Glu1151Gly)
2g.144389623T>GCA348699226ZEB2c.*3322A>C (n.*3322A>C)
c.2696A>C (p.Glu899Ala)
c.3473A>C (p.Glu1158Ala)
c.3361A>C (p.Arg1121=)
n.3442A>C
c.3137A>C (p.Glu1046Ala)
c.3548A>C (p.Glu1183Ala)
c.*3190A>C (n.*3190A>C)
n.3573A>C
c.151+6789A>C (n.151+6789A>C)
c.693A>C (n.693A>C)
c.1004A>C (p.Glu335Ala)
c.3470A>C (p.Glu1157Ala)
c.656-741A>C (n.656-741A>C)
c.3401A>C (p.Glu1134Ala)
c.3464A>C (p.Glu1155Ala)
c.3452A>C (p.Glu1151Ala)
2g.144389626_144389628delCA2577152055ZEB2c.*3320_*3322del (n.*3320_*3322del)
c.2694_2696del (p.Asp898del)
c.3471_3473del (p.Asp1157del)
c.3359_3361del (p.Thr1120del)
n.3440_3442del
c.3135_3137del (p.Asp1045del)
c.3546_3548del (p.Asp1182del)
c.*3188_*3190del (n.*3188_*3190del)
n.3571_3573del
c.151+6787_151+6789del (n.151+6787_151+6789del)
c.691_693del (n.691_693del)
c.1002_1004del (p.Asp334del)
c.3468_3470del (p.Asp1156del)
c.656-743_656-741del (n.656-743_656-741del)
c.3399_3401del (p.Asp1133del)
c.3462_3464del (p.Asp1154del)
c.3450_3452del (p.Asp1150del)
2g.144389624C>ACA348699228ZEB2c.*3321G>T (n.*3321G>T)
c.2695G>T (p.Glu899Ter)
c.3472G>T (p.Glu1158Ter)
c.3360G>T (p.Thr1120=)
n.3441G>T
c.3136G>T (p.Glu1046Ter)
c.3547G>T (p.Glu1183Ter)
c.*3189G>T (n.*3189G>T)
n.3572G>T
c.151+6788G>T (n.151+6788G>T)
c.692G>T (n.692G>T)
c.1003G>T (p.Glu335Ter)
c.3469G>T (p.Glu1157Ter)
c.656-742G>T (n.656-742G>T)
c.3400G>T (p.Glu1134Ter)
c.3463G>T (p.Glu1155Ter)
c.3451G>T (p.Glu1151Ter)
2g.144389624C>GCA348699229ZEB2c.*3321G>C (n.*3321G>C)
c.2695G>C (p.Glu899Gln)
c.3472G>C (p.Glu1158Gln)
c.3360G>C (p.Thr1120=)
n.3441G>C
c.3136G>C (p.Glu1046Gln)
c.3547G>C (p.Glu1183Gln)
c.*3189G>C (n.*3189G>C)
n.3572G>C
c.151+6788G>C (n.151+6788G>C)
c.692G>C (n.692G>C)
c.1003G>C (p.Glu335Gln)
c.3469G>C (p.Glu1157Gln)
c.656-742G>C (n.656-742G>C)
c.3400G>C (p.Glu1134Gln)
c.3463G>C (p.Glu1155Gln)
c.3451G>C (p.Glu1151Gln)
2g.144389624C>TCA348699227ZEB2c.*3321G>A (n.*3321G>A)
c.2695G>A (p.Glu899Lys)
c.3472G>A (p.Glu1158Lys)
c.3360G>A (p.Thr1120=)
n.3441G>A
c.3136G>A (p.Glu1046Lys)
c.3547G>A (p.Glu1183Lys)
c.*3189G>A (n.*3189G>A)
n.3572G>A
c.151+6788G>A (n.151+6788G>A)
c.692G>A (n.692G>A)
c.1003G>A (p.Glu335Lys)
c.3469G>A (p.Glu1157Lys)
c.656-742G>A (n.656-742G>A)
c.3400G>A (p.Glu1134Lys)
c.3463G>A (p.Glu1155Lys)
c.3451G>A (p.Glu1151Lys)
2g.144389625delCA658766349ZEB2c.*3320del (n.*3320del)
c.2694del (p.Asp898GlufsTer?)
c.3471del (p.Asp1157GlufsTer?)
c.3359del (p.Thr1120ArgfsTer11)
n.3440del
c.3135del (p.Asp1045GlufsTer?)
c.3546del (p.Asp1182GlufsTer?)
c.*3188del (n.*3188del)
n.3571del
c.151+6787del (n.151+6787del)
c.691del (n.691del)
c.1002del (p.Asp334GlufsTer?)
c.3468del (p.Asp1156GlufsTer?)
c.656-743del (n.656-743del)
c.3399del (p.Asp1133GlufsTer?)
c.3462del (p.Asp1154GlufsTer?)
c.3450del (p.Asp1150GlufsTer?)
2g.144389625G>ACA148681ZEB2c.*3320C>T (n.*3320C>T)
c.2694C>T (p.Asp898=)
c.3471C>T (p.Asp1157=)
c.3359C>T (p.Thr1120Met)
n.3440C>T
c.3135C>T (p.Asp1045=)
c.3546C>T (p.Asp1182=)
c.*3188C>T (n.*3188C>T)
n.3571C>T
c.151+6787C>T (n.151+6787C>T)
c.691C>T (n.691C>T)
c.1002C>T (p.Asp334=)
c.3468C>T (p.Asp1156=)
c.656-743C>T (n.656-743C>T)
c.3399C>T (p.Asp1133=)
c.3462C>T (p.Asp1154=)
c.3450C>T (p.Asp1150=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.144389625G>CCA348699231ZEB2c.*3320C>G (n.*3320C>G)
c.2694C>G (p.Asp898Glu)
c.3471C>G (p.Asp1157Glu)
c.3359C>G (p.Thr1120Arg)
n.3440C>G
c.3135C>G (p.Asp1045Glu)
c.3546C>G (p.Asp1182Glu)
c.*3188C>G (n.*3188C>G)
n.3571C>G
c.151+6787C>G (n.151+6787C>G)
c.691C>G (n.691C>G)
c.1002C>G (p.Asp334Glu)
c.3468C>G (p.Asp1156Glu)
c.656-743C>G (n.656-743C>G)
c.3399C>G (p.Asp1133Glu)
c.3462C>G (p.Asp1154Glu)
c.3450C>G (p.Asp1150Glu)
2g.144389625G=CA1294881272ZEB2c.*3320C= (n.*3320C=)
c.2694C= (p.Asp898=)
c.3471C= (p.Asp1157=)
c.3359C= (p.Thr1120=)
n.3440C=
c.3135C= (p.Asp1045=)
c.3546C= (p.Asp1182=)
c.*3188C= (n.*3188C=)
n.3571C=
c.151+6787C= (n.151+6787C=)
c.691C= (n.691C=)
c.1002C= (p.Asp334=)
c.3468C= (p.Asp1156=)
c.656-743C= (n.656-743C=)
c.3399C= (p.Asp1133=)
c.3462C= (p.Asp1154=)
c.3450C= (p.Asp1150=)
2g.144389625G>TCA348699230ZEB2c.*3320C>A (n.*3320C>A)
c.2694C>A (p.Asp898Glu)
c.3471C>A (p.Asp1157Glu)
c.3359C>A (p.Thr1120Lys)
n.3440C>A
c.3135C>A (p.Asp1045Glu)
c.3546C>A (p.Asp1182Glu)
c.*3188C>A (n.*3188C>A)
n.3571C>A
c.151+6787C>A (n.151+6787C>A)
c.691C>A (n.691C>A)
c.1002C>A (p.Asp334Glu)
c.3468C>A (p.Asp1156Glu)
c.656-743C>A (n.656-743C>A)
c.3399C>A (p.Asp1133Glu)
c.3462C>A (p.Asp1154Glu)
c.3450C>A (p.Asp1150Glu)
 gnomAD v4
2g.144389626T>ACA348699232ZEB2c.*3319A>T (n.*3319A>T)
c.2693A>T (p.Asp898Val)
c.3470A>T (p.Asp1157Val)
c.3358A>T (p.Thr1120Ser)
n.3439A>T
c.3134A>T (p.Asp1045Val)
c.3545A>T (p.Asp1182Val)
c.*3187A>T (n.*3187A>T)
n.3570A>T
c.151+6786A>T (n.151+6786A>T)
c.690A>T (n.690A>T)
c.1001A>T (p.Asp334Val)
c.3467A>T (p.Asp1156Val)
c.656-744A>T (n.656-744A>T)
c.3398A>T (p.Asp1133Val)
c.3461A>T (p.Asp1154Val)
c.3449A>T (p.Asp1150Val)
2g.144389626T>CCA348699233ZEB2c.*3319A>G (n.*3319A>G)
c.2693A>G (p.Asp898Gly)
c.3470A>G (p.Asp1157Gly)
c.3358A>G (p.Thr1120Ala)
n.3439A>G
c.3134A>G (p.Asp1045Gly)
c.3545A>G (p.Asp1182Gly)
c.*3187A>G (n.*3187A>G)
n.3570A>G
c.151+6786A>G (n.151+6786A>G)
c.690A>G (n.690A>G)
c.1001A>G (p.Asp334Gly)
c.3467A>G (p.Asp1156Gly)
c.656-744A>G (n.656-744A>G)
c.3398A>G (p.Asp1133Gly)
c.3461A>G (p.Asp1154Gly)
c.3449A>G (p.Asp1150Gly)
2g.144389626T>GCA348699234ZEB2c.*3319A>C (n.*3319A>C)
c.2693A>C (p.Asp898Ala)
c.3470A>C (p.Asp1157Ala)
c.3358A>C (p.Thr1120Pro)
n.3439A>C
c.3134A>C (p.Asp1045Ala)
c.3545A>C (p.Asp1182Ala)
c.*3187A>C (n.*3187A>C)
n.3570A>C
c.151+6786A>C (n.151+6786A>C)
c.690A>C (n.690A>C)
c.1001A>C (p.Asp334Ala)
c.3467A>C (p.Asp1156Ala)
c.656-744A>C (n.656-744A>C)
c.3398A>C (p.Asp1133Ala)
c.3461A>C (p.Asp1154Ala)
c.3449A>C (p.Asp1150Ala)
2g.144389627C>ACA348699235ZEB2c.*3318G>T (n.*3318G>T)
c.2692G>T (p.Asp898Tyr)
c.3469G>T (p.Asp1157Tyr)
c.3357G>T (p.Ala1119=)
n.3438G>T
c.3133G>T (p.Asp1045Tyr)
c.3544G>T (p.Asp1182Tyr)
c.*3186G>T (n.*3186G>T)
n.3569G>T
c.151+6785G>T (n.151+6785G>T)
c.689G>T (n.689G>T)
c.1000G>T (p.Asp334Tyr)
c.3466G>T (p.Asp1156Tyr)
c.656-745G>T (n.656-745G>T)
c.3397G>T (p.Asp1133Tyr)
c.3460G>T (p.Asp1154Tyr)
c.3448G>T (p.Asp1150Tyr)
2g.144389627C=CA1294881273ZEB2c.*3318G= (n.*3318G=)
c.2692G= (p.Asp898=)
c.3469G= (p.Asp1157=)
c.3357G= (p.Ala1119=)
n.3438G=
c.3133G= (p.Asp1045=)
c.3544G= (p.Asp1182=)
c.*3186G= (n.*3186G=)
n.3569G=
c.151+6785G= (n.151+6785G=)
c.689G= (n.689G=)
c.1000G= (p.Asp334=)
c.3466G= (p.Asp1156=)
c.656-745G= (n.656-745G=)
c.3397G= (p.Asp1133=)
c.3460G= (p.Asp1154=)
c.3448G= (p.Asp1150=)
2g.144389627C>GCA348699236ZEB2c.*3318G>C (n.*3318G>C)
c.2692G>C (p.Asp898His)
c.3469G>C (p.Asp1157His)
c.3357G>C (p.Ala1119=)
n.3438G>C
c.3133G>C (p.Asp1045His)
c.3544G>C (p.Asp1182His)
c.*3186G>C (n.*3186G>C)
n.3569G>C
c.151+6785G>C (n.151+6785G>C)
c.689G>C (n.689G>C)
c.1000G>C (p.Asp334His)
c.3466G>C (p.Asp1156His)
c.656-745G>C (n.656-745G>C)
c.3397G>C (p.Asp1133His)
c.3460G>C (p.Asp1154His)
c.3448G>C (p.Asp1150His)
 gnomAD v4
2g.144389627C>TCA348699237ZEB2c.*3318G>A (n.*3318G>A)
c.2692G>A (p.Asp898Asn)
c.3469G>A (p.Asp1157Asn)
c.3357G>A (p.Ala1119=)
n.3438G>A
c.3133G>A (p.Asp1045Asn)
c.3544G>A (p.Asp1182Asn)
c.*3186G>A (n.*3186G>A)
n.3569G>A
c.151+6785G>A (n.151+6785G>A)
c.689G>A (n.689G>A)
c.1000G>A (p.Asp334Asn)
c.3466G>A (p.Asp1156Asn)
c.656-745G>A (n.656-745G>A)
c.3397G>A (p.Asp1133Asn)
c.3460G>A (p.Asp1154Asn)
c.3448G>A (p.Asp1150Asn)
 ClinVar dbSNP gnomAD v4
2g.144389628G>ACA429441105ZEB2c.*3317C>T (n.*3317C>T)
c.2691C>T (p.Gly897=)
c.3468C>T (p.Gly1156=)
c.3356C>T (p.Ala1119Val)
n.3437C>T
c.3132C>T (p.Gly1044=)
c.3543C>T (p.Gly1181=)
c.*3185C>T (n.*3185C>T)
n.3568C>T
c.151+6784C>T (n.151+6784C>T)
c.688C>T (n.688C>T)
c.999C>T (p.Gly333=)
c.3465C>T (p.Gly1155=)
c.656-746C>T (n.656-746C>T)
c.3396C>T (p.Gly1132=)
c.3459C>T (p.Gly1153=)
c.3447C>T (p.Gly1149=)
 COSMIC
2g.144389628G>CCA429441106ZEB2c.*3317C>G (n.*3317C>G)
c.2691C>G (p.Gly897=)
c.3468C>G (p.Gly1156=)
c.3356C>G (p.Ala1119Gly)
n.3437C>G
c.3132C>G (p.Gly1044=)
c.3543C>G (p.Gly1181=)
c.*3185C>G (n.*3185C>G)
n.3568C>G
c.151+6784C>G (n.151+6784C>G)
c.688C>G (n.688C>G)
c.999C>G (p.Gly333=)
c.3465C>G (p.Gly1155=)
c.656-746C>G (n.656-746C>G)
c.3396C>G (p.Gly1132=)
c.3459C>G (p.Gly1153=)
c.3447C>G (p.Gly1149=)
2g.144389628G>TCA429441107ZEB2c.*3317C>A (n.*3317C>A)
c.2691C>A (p.Gly897=)
c.3468C>A (p.Gly1156=)
c.3356C>A (p.Ala1119Glu)
n.3437C>A
c.3132C>A (p.Gly1044=)
c.3543C>A (p.Gly1181=)
c.*3185C>A (n.*3185C>A)
n.3568C>A
c.151+6784C>A (n.151+6784C>A)
c.688C>A (n.688C>A)
c.999C>A (p.Gly333=)
c.3465C>A (p.Gly1155=)
c.656-746C>A (n.656-746C>A)
c.3396C>A (p.Gly1132=)
c.3459C>A (p.Gly1153=)
c.3447C>A (p.Gly1149=)
2g.144389629C>ACA348699238ZEB2c.*3316G>T (n.*3316G>T)
c.2690G>T (p.Gly897Val)
c.3467G>T (p.Gly1156Val)
c.3355G>T (p.Ala1119Ser)
n.3436G>T
c.3131G>T (p.Gly1044Val)
c.3542G>T (p.Gly1181Val)
c.*3184G>T (n.*3184G>T)
n.3567G>T
c.151+6783G>T (n.151+6783G>T)
c.687G>T (n.687G>T)
c.998G>T (p.Gly333Val)
c.3464G>T (p.Gly1155Val)
c.656-747G>T (n.656-747G>T)
c.3395G>T (p.Gly1132Val)
c.3458G>T (p.Gly1153Val)
c.3446G>T (p.Gly1149Val)
2g.144389629C=CA1294881274ZEB2c.*3316G= (n.*3316G=)
c.2690G= (p.Gly897=)
c.3467G= (p.Gly1156=)
c.3355G= (p.Ala1119=)
n.3436G=
c.3131G= (p.Gly1044=)
c.3542G= (p.Gly1181=)
c.*3184G= (n.*3184G=)
n.3567G=
c.151+6783G= (n.151+6783G=)
c.687G= (n.687G=)
c.998G= (p.Gly333=)
c.3464G= (p.Gly1155=)
c.656-747G= (n.656-747G=)
c.3395G= (p.Gly1132=)
c.3458G= (p.Gly1153=)
c.3446G= (p.Gly1149=)
2g.144389629C>GCA348699239ZEB2c.*3316G>C (n.*3316G>C)
c.2690G>C (p.Gly897Ala)
c.3467G>C (p.Gly1156Ala)
c.3355G>C (p.Ala1119Pro)
n.3436G>C
c.3131G>C (p.Gly1044Ala)
c.3542G>C (p.Gly1181Ala)
c.*3184G>C (n.*3184G>C)
n.3567G>C
c.151+6783G>C (n.151+6783G>C)
c.687G>C (n.687G>C)
c.998G>C (p.Gly333Ala)
c.3464G>C (p.Gly1155Ala)
c.656-747G>C (n.656-747G>C)
c.3395G>C (p.Gly1132Ala)
c.3458G>C (p.Gly1153Ala)
c.3446G>C (p.Gly1149Ala)
 ClinVar dbSNP
2g.144389629C>TCA348699240ZEB2c.*3316G>A (n.*3316G>A)
c.2690G>A (p.Gly897Asp)
c.3467G>A (p.Gly1156Asp)
c.3355G>A (p.Ala1119Thr)
n.3436G>A
c.3131G>A (p.Gly1044Asp)
c.3542G>A (p.Gly1181Asp)
c.*3184G>A (n.*3184G>A)
n.3567G>A
c.151+6783G>A (n.151+6783G>A)
c.687G>A (n.687G>A)
c.998G>A (p.Gly333Asp)
c.3464G>A (p.Gly1155Asp)
c.656-747G>A (n.656-747G>A)
c.3395G>A (p.Gly1132Asp)
c.3458G>A (p.Gly1153Asp)
c.3446G>A (p.Gly1149Asp)
2g.144389629_144389630insTCA2542021771ZEB2c.*3315_*3316insA (n.*3315_*3316insA)
c.2689_2690insA (p.Gly897GlufsTer13)
c.3466_3467insA (p.Gly1156GlufsTer13)
c.3354_3355insA (p.Ala1119SerfsTer?)
n.3435_3436insA
c.3130_3131insA (p.Gly1044GlufsTer13)
c.3541_3542insA (p.Gly1181GlufsTer13)
c.*3183_*3184insA (n.*3183_*3184insA)
n.3566_3567insA
c.151+6782_151+6783insA (n.151+6782_151+6783insA)
c.686_687insA (n.686_687insA)
c.997_998insA (p.Gly333GlufsTer13)
c.3463_3464insA (p.Gly1155GlufsTer13)
c.656-748_656-747insA (n.656-748_656-747insA)
c.3394_3395insA (p.Gly1132GlufsTer13)
c.3457_3458insA (p.Gly1153GlufsTer13)
c.3445_3446insA (p.Gly1149GlufsTer13)
2g.144389630C>ACA1898111ZEB2c.*3315G>T (n.*3315G>T)
c.2689G>T (p.Gly897Cys)
c.3466G>T (p.Gly1156Cys)
c.3354G>T (p.Met1118Ile)
n.3435G>T
c.3130G>T (p.Gly1044Cys)
c.3541G>T (p.Gly1181Cys)
c.*3183G>T (n.*3183G>T)
n.3566G>T
c.151+6782G>T (n.151+6782G>T)
c.686G>T (n.686G>T)
c.997G>T (p.Gly333Cys)
c.3463G>T (p.Gly1155Cys)
c.656-748G>T (n.656-748G>T)
c.3394G>T (p.Gly1132Cys)
c.3457G>T (p.Gly1153Cys)
c.3445G>T (p.Gly1149Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
2g.144389630C=CA1294881275ZEB2c.*3315G= (n.*3315G=)
c.2689G= (p.Gly897=)
c.3466G= (p.Gly1156=)
c.3354G= (p.Met1118=)
n.3435G=
c.3130G= (p.Gly1044=)
c.3541G= (p.Gly1181=)
c.*3183G= (n.*3183G=)
n.3566G=
c.151+6782G= (n.151+6782G=)
c.686G= (n.686G=)
c.997G= (p.Gly333=)
c.3463G= (p.Gly1155=)
c.656-748G= (n.656-748G=)
c.3394G= (p.Gly1132=)
c.3457G= (p.Gly1153=)
c.3445G= (p.Gly1149=)
2g.144389630C>GCA348699241ZEB2c.*3315G>C (n.*3315G>C)
c.2689G>C (p.Gly897Arg)
c.3466G>C (p.Gly1156Arg)
c.3354G>C (p.Met1118Ile)
n.3435G>C
c.3130G>C (p.Gly1044Arg)
c.3541G>C (p.Gly1181Arg)
c.*3183G>C (n.*3183G>C)
n.3566G>C
c.151+6782G>C (n.151+6782G>C)
c.686G>C (n.686G>C)
c.997G>C (p.Gly333Arg)
c.3463G>C (p.Gly1155Arg)
c.656-748G>C (n.656-748G>C)
c.3394G>C (p.Gly1132Arg)
c.3457G>C (p.Gly1153Arg)
c.3445G>C (p.Gly1149Arg)
2g.144389630C>TCA348699242ZEB2c.*3315G>A (n.*3315G>A)
c.2689G>A (p.Gly897Ser)
c.3466G>A (p.Gly1156Ser)
c.3354G>A (p.Met1118Ile)
n.3435G>A
c.3130G>A (p.Gly1044Ser)
c.3541G>A (p.Gly1181Ser)
c.*3183G>A (n.*3183G>A)
n.3566G>A
c.151+6782G>A (n.151+6782G>A)
c.686G>A (n.686G>A)
c.997G>A (p.Gly333Ser)
c.3463G>A (p.Gly1155Ser)
c.656-748G>A (n.656-748G>A)
c.3394G>A (p.Gly1132Ser)
c.3457G>A (p.Gly1153Ser)
c.3445G>A (p.Gly1149Ser)
2g.144389631A>CCA348699243ZEB2c.*3314T>G (n.*3314T>G)
c.2688T>G (p.Asp896Glu)
c.3465T>G (p.Asp1155Glu)
c.3353T>G (p.Met1118Arg)
n.3434T>G
c.3129T>G (p.Asp1043Glu)
c.3540T>G (p.Asp1180Glu)
c.*3182T>G (n.*3182T>G)
n.3565T>G
c.151+6781T>G (n.151+6781T>G)
c.685T>G (n.685T>G)
c.996T>G (p.Asp332Glu)
c.3462T>G (p.Asp1154Glu)
c.656-749T>G (n.656-749T>G)
c.3393T>G (p.Asp1131Glu)
c.3456T>G (p.Asp1152Glu)
c.3444T>G (p.Asp1148Glu)
2g.144389631A>GCA429441108ZEB2c.*3314T>C (n.*3314T>C)
c.2688T>C (p.Asp896=)
c.3465T>C (p.Asp1155=)
c.3353T>C (p.Met1118Thr)
n.3434T>C
c.3129T>C (p.Asp1043=)
c.3540T>C (p.Asp1180=)
c.*3182T>C (n.*3182T>C)
n.3565T>C
c.151+6781T>C (n.151+6781T>C)
c.685T>C (n.685T>C)
c.996T>C (p.Asp332=)
c.3462T>C (p.Asp1154=)
c.656-749T>C (n.656-749T>C)
c.3393T>C (p.Asp1131=)
c.3456T>C (p.Asp1152=)
c.3444T>C (p.Asp1148=)
2g.144389631A>TCA348699244ZEB2c.*3314T>A (n.*3314T>A)
c.2688T>A (p.Asp896Glu)
c.3465T>A (p.Asp1155Glu)
c.3353T>A (p.Met1118Lys)
n.3434T>A
c.3129T>A (p.Asp1043Glu)
c.3540T>A (p.Asp1180Glu)
c.*3182T>A (n.*3182T>A)
n.3565T>A
c.151+6781T>A (n.151+6781T>A)
c.685T>A (n.685T>A)
c.996T>A (p.Asp332Glu)
c.3462T>A (p.Asp1154Glu)
c.656-749T>A (n.656-749T>A)
c.3393T>A (p.Asp1131Glu)
c.3456T>A (p.Asp1152Glu)
c.3444T>A (p.Asp1148Glu)
2g.144389632T>ACA348699245ZEB2c.*3313A>T (n.*3313A>T)
c.2687A>T (p.Asp896Val)
c.3464A>T (p.Asp1155Val)
c.3352A>T (p.Met1118Leu)
n.3433A>T
c.3128A>T (p.Asp1043Val)
c.3539A>T (p.Asp1180Val)
c.*3181A>T (n.*3181A>T)
n.3564A>T
c.151+6780A>T (n.151+6780A>T)
c.684A>T (n.684A>T)
c.995A>T (p.Asp332Val)
c.3461A>T (p.Asp1154Val)
c.656-750A>T (n.656-750A>T)
c.3392A>T (p.Asp1131Val)
c.3455A>T (p.Asp1152Val)
c.3443A>T (p.Asp1148Val)
 gnomAD v4
2g.144389632T>CCA348699246ZEB2c.*3313A>G (n.*3313A>G)
c.2687A>G (p.Asp896Gly)
c.3464A>G (p.Asp1155Gly)
c.3352A>G (p.Met1118Val)
n.3433A>G
c.3128A>G (p.Asp1043Gly)
c.3539A>G (p.Asp1180Gly)
c.*3181A>G (n.*3181A>G)
n.3564A>G
c.151+6780A>G (n.151+6780A>G)
c.684A>G (n.684A>G)
c.995A>G (p.Asp332Gly)
c.3461A>G (p.Asp1154Gly)
c.656-750A>G (n.656-750A>G)
c.3392A>G (p.Asp1131Gly)
c.3455A>G (p.Asp1152Gly)
c.3443A>G (p.Asp1148Gly)
2g.144389632T>GCA348699247ZEB2c.*3313A>C (n.*3313A>C)
c.2687A>C (p.Asp896Ala)
c.3464A>C (p.Asp1155Ala)
c.3352A>C (p.Met1118Leu)
n.3433A>C
c.3128A>C (p.Asp1043Ala)
c.3539A>C (p.Asp1180Ala)
c.*3181A>C (n.*3181A>C)
n.3564A>C
c.151+6780A>C (n.151+6780A>C)
c.684A>C (n.684A>C)
c.995A>C (p.Asp332Ala)
c.3461A>C (p.Asp1154Ala)
c.656-750A>C (n.656-750A>C)
c.3392A>C (p.Asp1131Ala)
c.3455A>C (p.Asp1152Ala)
c.3443A>C (p.Asp1148Ala)
 gnomAD v4
2g.144389633C>ACA1898112ZEB2c.*3312G>T (n.*3312G>T)
c.2686G>T (p.Asp896Tyr)
c.3463G>T (p.Asp1155Tyr)
c.3351G>T (p.Arg1117Ser)
n.3432G>T
c.3127G>T (p.Asp1043Tyr)
c.3538G>T (p.Asp1180Tyr)
c.*3180G>T (n.*3180G>T)
n.3563G>T
c.151+6779G>T (n.151+6779G>T)
c.683G>T (n.683G>T)
c.994G>T (p.Asp332Tyr)
c.3460G>T (p.Asp1154Tyr)
c.656-751G>T (n.656-751G>T)
c.3391G>T (p.Asp1131Tyr)
c.3454G>T (p.Asp1152Tyr)
c.3442G>T (p.Asp1148Tyr)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.144389633C=CA1294881276ZEB2c.*3312G= (n.*3312G=)
c.2686G= (p.Asp896=)
c.3463G= (p.Asp1155=)
c.3351G= (p.Arg1117=)
n.3432G=
c.3127G= (p.Asp1043=)
c.3538G= (p.Asp1180=)
c.*3180G= (n.*3180G=)
n.3563G=
c.151+6779G= (n.151+6779G=)
c.683G= (n.683G=)
c.994G= (p.Asp332=)
c.3460G= (p.Asp1154=)
c.656-751G= (n.656-751G=)
c.3391G= (p.Asp1131=)
c.3454G= (p.Asp1152=)
c.3442G= (p.Asp1148=)
2g.144389633C>GCA348699248ZEB2c.*3312G>C (n.*3312G>C)
c.2686G>C (p.Asp896His)
c.3463G>C (p.Asp1155His)
c.3351G>C (p.Arg1117Ser)
n.3432G>C
c.3127G>C (p.Asp1043His)
c.3538G>C (p.Asp1180His)
c.*3180G>C (n.*3180G>C)
n.3563G>C
c.151+6779G>C (n.151+6779G>C)
c.683G>C (n.683G>C)
c.994G>C (p.Asp332His)
c.3460G>C (p.Asp1154His)
c.656-751G>C (n.656-751G>C)
c.3391G>C (p.Asp1131His)
c.3454G>C (p.Asp1152His)
c.3442G>C (p.Asp1148His)
 gnomAD v4
2g.144389633C>TCA348699249ZEB2c.*3312G>A (n.*3312G>A)
c.2686G>A (p.Asp896Asn)
c.3463G>A (p.Asp1155Asn)
c.3351G>A (p.Arg1117=)
n.3432G>A
c.3127G>A (p.Asp1043Asn)
c.3538G>A (p.Asp1180Asn)
c.*3180G>A (n.*3180G>A)
n.3563G>A
c.151+6779G>A (n.151+6779G>A)
c.683G>A (n.683G>A)
c.994G>A (p.Asp332Asn)
c.3460G>A (p.Asp1154Asn)
c.656-751G>A (n.656-751G>A)
c.3391G>A (p.Asp1131Asn)
c.3454G>A (p.Asp1152Asn)
c.3442G>A (p.Asp1148Asn)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.144389634C>ACA348699250ZEB2c.*3311G>T (n.*3311G>T)
c.2685G>T (p.Gln895His)
c.3462G>T (p.Gln1154His)
c.3350G>T (p.Arg1117Met)
n.3431G>T
c.3126G>T (p.Gln1042His)
c.3537G>T (p.Gln1179His)
c.*3179G>T (n.*3179G>T)
n.3562G>T
c.151+6778G>T (n.151+6778G>T)
c.682G>T (n.682G>T)
c.993G>T (p.Gln331His)
c.3459G>T (p.Gln1153His)
c.656-752G>T (n.656-752G>T)
c.3390G>T (p.Gln1130His)
c.3453G>T (p.Gln1151His)
c.3441G>T (p.Gln1147His)
2g.144389634C>GCA348699251ZEB2c.*3311G>C (n.*3311G>C)
c.2685G>C (p.Gln895His)
c.3462G>C (p.Gln1154His)
c.3350G>C (p.Arg1117Thr)
n.3431G>C
c.3126G>C (p.Gln1042His)
c.3537G>C (p.Gln1179His)
c.*3179G>C (n.*3179G>C)
n.3562G>C
c.151+6778G>C (n.151+6778G>C)
c.682G>C (n.682G>C)
c.993G>C (p.Gln331His)
c.3459G>C (p.Gln1153His)
c.656-752G>C (n.656-752G>C)
c.3390G>C (p.Gln1130His)
c.3453G>C (p.Gln1151His)
c.3441G>C (p.Gln1147His)
2g.144389634C>TCA429441109ZEB2c.*3311G>A (n.*3311G>A)
c.2685G>A (p.Gln895=)
c.3462G>A (p.Gln1154=)
c.3350G>A (p.Arg1117Lys)
n.3431G>A
c.3126G>A (p.Gln1042=)
c.3537G>A (p.Gln1179=)
c.*3179G>A (n.*3179G>A)
n.3562G>A
c.151+6778G>A (n.151+6778G>A)
c.682G>A (n.682G>A)
c.993G>A (p.Gln331=)
c.3459G>A (p.Gln1153=)
c.656-752G>A (n.656-752G>A)
c.3390G>A (p.Gln1130=)
c.3453G>A (p.Gln1151=)
c.3441G>A (p.Gln1147=)
 gnomAD v4
2g.144389634_144389636delCA2517152789ZEB2c.*3309_*3311del (n.*3309_*3311del)
c.2683_2685del (p.Gln895del)
c.3460_3462del (p.Gln1154del)
c.3348_3350del (p.Asp1116_Arg1117delinsGlu)
n.3429_3431del
c.3124_3126del (p.Gln1042del)
c.3535_3537del (p.Gln1179del)
c.*3177_*3179del (n.*3177_*3179del)
n.3560_3562del
c.151+6776_151+6778del (n.151+6776_151+6778del)
c.680_682del (n.680_682del)
c.991_993del (p.Gln331del)
c.3457_3459del (p.Gln1153del)
c.656-754_656-752del (n.656-754_656-752del)
c.3388_3390del (p.Gln1130del)
c.3451_3453del (p.Gln1151del)
c.3439_3441del (p.Gln1147del)
2g.144389635T>ACA348699252ZEB2c.*3310A>T (n.*3310A>T)
c.2684A>T (p.Gln895Leu)
c.3461A>T (p.Gln1154Leu)
c.3349A>T (p.Arg1117Trp)
n.3430A>T
c.3125A>T (p.Gln1042Leu)
c.3536A>T (p.Gln1179Leu)
c.*3178A>T (n.*3178A>T)
n.3561A>T
c.151+6777A>T (n.151+6777A>T)
c.681A>T (n.681A>T)
c.992A>T (p.Gln331Leu)
c.3458A>T (p.Gln1153Leu)
c.656-753A>T (n.656-753A>T)
c.3389A>T (p.Gln1130Leu)
c.3452A>T (p.Gln1151Leu)
c.3440A>T (p.Gln1147Leu)
2g.144389635T>CCA348699253ZEB2c.*3310A>G (n.*3310A>G)
c.2684A>G (p.Gln895Arg)
c.3461A>G (p.Gln1154Arg)
c.3349A>G (p.Arg1117Gly)
n.3430A>G
c.3125A>G (p.Gln1042Arg)
c.3536A>G (p.Gln1179Arg)
c.*3178A>G (n.*3178A>G)
n.3561A>G
c.151+6777A>G (n.151+6777A>G)
c.681A>G (n.681A>G)
c.992A>G (p.Gln331Arg)
c.3458A>G (p.Gln1153Arg)
c.656-753A>G (n.656-753A>G)
c.3389A>G (p.Gln1130Arg)
c.3452A>G (p.Gln1151Arg)
c.3440A>G (p.Gln1147Arg)
 dbSNP gnomAD v4
2g.144389635T>GCA348699254ZEB2c.*3310A>C (n.*3310A>C)
c.2684A>C (p.Gln895Pro)
c.3461A>C (p.Gln1154Pro)
c.3349A>C (p.Arg1117=)
n.3430A>C
c.3125A>C (p.Gln1042Pro)
c.3536A>C (p.Gln1179Pro)
c.*3178A>C (n.*3178A>C)
n.3561A>C
c.151+6777A>C (n.151+6777A>C)
c.681A>C (n.681A>C)
c.992A>C (p.Gln331Pro)
c.3458A>C (p.Gln1153Pro)
c.656-753A>C (n.656-753A>C)
c.3389A>C (p.Gln1130Pro)
c.3452A>C (p.Gln1151Pro)
c.3440A>C (p.Gln1147Pro)
2g.144389635T=CA1294881277ZEB2c.*3310A= (n.*3310A=)
c.2684A= (p.Gln895=)
c.3461A= (p.Gln1154=)
c.3349A= (p.Arg1117=)
n.3430A=
c.3125A= (p.Gln1042=)
c.3536A= (p.Gln1179=)
c.*3178A= (n.*3178A=)
n.3561A=
c.151+6777A= (n.151+6777A=)
c.681A= (n.681A=)
c.992A= (p.Gln331=)
c.3458A= (p.Gln1153=)
c.656-753A= (n.656-753A=)
c.3389A= (p.Gln1130=)
c.3452A= (p.Gln1151=)
c.3440A= (p.Gln1147=)
2g.144389636G>ACA348699256ZEB2c.*3309C>T (n.*3309C>T)
c.2683C>T (p.Gln895Ter)
c.3460C>T (p.Gln1154Ter)
c.3348C>T (p.Asp1116=)
n.3429C>T
c.3124C>T (p.Gln1042Ter)
c.3535C>T (p.Gln1179Ter)
c.*3177C>T (n.*3177C>T)
n.3560C>T
c.151+6776C>T (n.151+6776C>T)
c.680C>T (n.680C>T)
c.991C>T (p.Gln331Ter)
c.3457C>T (p.Gln1153Ter)
c.656-754C>T (n.656-754C>T)
c.3388C>T (p.Gln1130Ter)
c.3451C>T (p.Gln1151Ter)
c.3439C>T (p.Gln1147Ter)
2g.144389636G>CCA348699257ZEB2c.*3309C>G (n.*3309C>G)
c.2683C>G (p.Gln895Glu)
c.3460C>G (p.Gln1154Glu)
c.3348C>G (p.Asp1116Glu)
n.3429C>G
c.3124C>G (p.Gln1042Glu)
c.3535C>G (p.Gln1179Glu)
c.*3177C>G (n.*3177C>G)
n.3560C>G
c.151+6776C>G (n.151+6776C>G)
c.680C>G (n.680C>G)
c.991C>G (p.Gln331Glu)
c.3457C>G (p.Gln1153Glu)
c.656-754C>G (n.656-754C>G)
c.3388C>G (p.Gln1130Glu)
c.3451C>G (p.Gln1151Glu)
c.3439C>G (p.Gln1147Glu)
2g.144389636G>TCA348699255ZEB2c.*3309C>A (n.*3309C>A)
c.2683C>A (p.Gln895Lys)
c.3460C>A (p.Gln1154Lys)
c.3348C>A (p.Asp1116Glu)
n.3429C>A
c.3124C>A (p.Gln1042Lys)
c.3535C>A (p.Gln1179Lys)
c.*3177C>A (n.*3177C>A)
n.3560C>A
c.151+6776C>A (n.151+6776C>A)
c.680C>A (n.680C>A)
c.991C>A (p.Gln331Lys)
c.3457C>A (p.Gln1153Lys)
c.656-754C>A (n.656-754C>A)
c.3388C>A (p.Gln1130Lys)
c.3451C>A (p.Gln1151Lys)
c.3439C>A (p.Gln1147Lys)
2g.144389637T>ACA348699258ZEB2c.*3308A>T (n.*3308A>T)
c.2682A>T (p.Arg894Ser)
c.3459A>T (p.Arg1153Ser)
c.3347A>T (p.Asp1116Val)
n.3428A>T
c.3123A>T (p.Arg1041Ser)
c.3534A>T (p.Arg1178Ser)
c.*3176A>T (n.*3176A>T)
n.3559A>T
c.151+6775A>T (n.151+6775A>T)
c.679A>T (n.679A>T)
c.990A>T (p.Arg330Ser)
c.3456A>T (p.Arg1152Ser)
c.656-755A>T (n.656-755A>T)
c.3387A>T (p.Arg1129Ser)
c.3450A>T (p.Arg1150Ser)
c.3438A>T (p.Arg1146Ser)
2g.144389637T>CCA429441122ZEB2c.*3308A>G (n.*3308A>G)
c.2682A>G (p.Arg894=)
c.3459A>G (p.Arg1153=)
c.3347A>G (p.Asp1116Gly)
n.3428A>G
c.3123A>G (p.Arg1041=)
c.3534A>G (p.Arg1178=)
c.*3176A>G (n.*3176A>G)
n.3559A>G
c.151+6775A>G (n.151+6775A>G)
c.679A>G (n.679A>G)
c.990A>G (p.Arg330=)
c.3456A>G (p.Arg1152=)
c.656-755A>G (n.656-755A>G)
c.3387A>G (p.Arg1129=)
c.3450A>G (p.Arg1150=)
c.3438A>G (p.Arg1146=)
 ClinVar dbSNP
2g.144389637T>GCA348699259ZEB2c.*3308A>C (n.*3308A>C)
c.2682A>C (p.Arg894Ser)
c.3459A>C (p.Arg1153Ser)
c.3347A>C (p.Asp1116Ala)
n.3428A>C
c.3123A>C (p.Arg1041Ser)
c.3534A>C (p.Arg1178Ser)
c.*3176A>C (n.*3176A>C)
n.3559A>C
c.151+6775A>C (n.151+6775A>C)
c.679A>C (n.679A>C)
c.990A>C (p.Arg330Ser)
c.3456A>C (p.Arg1152Ser)
c.656-755A>C (n.656-755A>C)
c.3387A>C (p.Arg1129Ser)
c.3450A>C (p.Arg1150Ser)
c.3438A>C (p.Arg1146Ser)
2g.144389637T=CA1294881278ZEB2c.*3308A= (n.*3308A=)
c.2682A= (p.Arg894=)
c.3459A= (p.Arg1153=)
c.3347A= (p.Asp1116=)
n.3428A=
c.3123A= (p.Arg1041=)
c.3534A= (p.Arg1178=)
c.*3176A= (n.*3176A=)
n.3559A=
c.151+6775A= (n.151+6775A=)
c.679A= (n.679A=)
c.990A= (p.Arg330=)
c.3456A= (p.Arg1152=)
c.656-755A= (n.656-755A=)
c.3387A= (p.Arg1129=)
c.3450A= (p.Arg1150=)
c.3438A= (p.Arg1146=)
2g.144389638C>ACA348699260ZEB2c.*3307G>T (n.*3307G>T)
c.2681G>T (p.Arg894Ile)
c.3458G>T (p.Arg1153Ile)
c.3346G>T (p.Asp1116Tyr)
n.3427G>T
c.3122G>T (p.Arg1041Ile)
c.3533G>T (p.Arg1178Ile)
c.*3175G>T (n.*3175G>T)
n.3558G>T
c.151+6774G>T (n.151+6774G>T)
c.678G>T (n.678G>T)
c.989G>T (p.Arg330Ile)
c.3455G>T (p.Arg1152Ile)
c.656-756G>T (n.656-756G>T)
c.3386G>T (p.Arg1129Ile)
c.3449G>T (p.Arg1150Ile)
c.3437G>T (p.Arg1146Ile)
2g.144389638C>GCA348699261ZEB2c.*3307G>C (n.*3307G>C)
c.2681G>C (p.Arg894Thr)
c.3458G>C (p.Arg1153Thr)
c.3346G>C (p.Asp1116His)
n.3427G>C
c.3122G>C (p.Arg1041Thr)
c.3533G>C (p.Arg1178Thr)
c.*3175G>C (n.*3175G>C)
n.3558G>C
c.151+6774G>C (n.151+6774G>C)
c.678G>C (n.678G>C)
c.989G>C (p.Arg330Thr)
c.3455G>C (p.Arg1152Thr)
c.656-756G>C (n.656-756G>C)
c.3386G>C (p.Arg1129Thr)
c.3449G>C (p.Arg1150Thr)
c.3437G>C (p.Arg1146Thr)
2g.144389638C>TCA348699262ZEB2c.*3307G>A (n.*3307G>A)
c.2681G>A (p.Arg894Lys)
c.3458G>A (p.Arg1153Lys)
c.3346G>A (p.Asp1116Asn)
n.3427G>A
c.3122G>A (p.Arg1041Lys)
c.3533G>A (p.Arg1178Lys)
c.*3175G>A (n.*3175G>A)
n.3558G>A
c.151+6774G>A (n.151+6774G>A)
c.678G>A (n.678G>A)
c.989G>A (p.Arg330Lys)
c.3455G>A (p.Arg1152Lys)
c.656-756G>A (n.656-756G>A)
c.3386G>A (p.Arg1129Lys)
c.3449G>A (p.Arg1150Lys)
c.3437G>A (p.Arg1146Lys)

Number of alleles fetched