Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.144389535A>C | CA348698949 | ZEB2 | c.*3410T>G (n.*3410T>G) c.2784T>G (p.Asp928Glu) c.3561T>G (p.Asp1187Glu) c.3449T>G (p.Ile1150Ser) n.3530T>G c.3225T>G (p.Asp1075Glu) c.3636T>G (p.Asp1212Glu) c.*3278T>G (n.*3278T>G) n.3661T>G c.151+6877T>G (n.151+6877T>G) c.781T>G (n.781T>G) c.1092T>G (p.Asp364Glu) c.3558T>G (p.Asp1186Glu) c.656-653T>G (n.656-653T>G) c.3489T>G (p.Asp1163Glu) c.3552T>G (p.Asp1184Glu) c.3540T>G (p.Asp1180Glu) | |
2 | g.144389535A>G | CA429441065 | ZEB2 | c.*3410T>C (n.*3410T>C) c.2784T>C (p.Asp928=) c.3561T>C (p.Asp1187=) c.3449T>C (p.Ile1150Thr) n.3530T>C c.3225T>C (p.Asp1075=) c.3636T>C (p.Asp1212=) c.*3278T>C (n.*3278T>C) n.3661T>C c.151+6877T>C (n.151+6877T>C) c.781T>C (n.781T>C) c.1092T>C (p.Asp364=) c.3558T>C (p.Asp1186=) c.656-653T>C (n.656-653T>C) c.3489T>C (p.Asp1163=) c.3552T>C (p.Asp1184=) c.3540T>C (p.Asp1180=) | COSMIC |
2 | g.144389535A>T | CA348698951 | ZEB2 | c.*3410T>A (n.*3410T>A) c.2784T>A (p.Asp928Glu) c.3561T>A (p.Asp1187Glu) c.3449T>A (p.Ile1150Asn) n.3530T>A c.3225T>A (p.Asp1075Glu) c.3636T>A (p.Asp1212Glu) c.*3278T>A (n.*3278T>A) n.3661T>A c.151+6877T>A (n.151+6877T>A) c.781T>A (n.781T>A) c.1092T>A (p.Asp364Glu) c.3558T>A (p.Asp1186Glu) c.656-653T>A (n.656-653T>A) c.3489T>A (p.Asp1163Glu) c.3552T>A (p.Asp1184Glu) c.3540T>A (p.Asp1180Glu) | |
2 | g.144389536T>A | CA348698952 | ZEB2 | c.*3409A>T (n.*3409A>T) c.2783A>T (p.Asp928Val) c.3560A>T (p.Asp1187Val) c.3448A>T (p.Ile1150Phe) n.3529A>T c.3224A>T (p.Asp1075Val) c.3635A>T (p.Asp1212Val) c.*3277A>T (n.*3277A>T) n.3660A>T c.151+6876A>T (n.151+6876A>T) c.780A>T (n.780A>T) c.1091A>T (p.Asp364Val) c.3557A>T (p.Asp1186Val) c.656-654A>T (n.656-654A>T) c.3488A>T (p.Asp1163Val) c.3551A>T (p.Asp1184Val) c.3539A>T (p.Asp1180Val) | |
2 | g.144389536T>C | CA348698954 | ZEB2 | c.*3409A>G (n.*3409A>G) c.2783A>G (p.Asp928Gly) c.3560A>G (p.Asp1187Gly) c.3448A>G (p.Ile1150Val) n.3529A>G c.3224A>G (p.Asp1075Gly) c.3635A>G (p.Asp1212Gly) c.*3277A>G (n.*3277A>G) n.3660A>G c.151+6876A>G (n.151+6876A>G) c.780A>G (n.780A>G) c.1091A>G (p.Asp364Gly) c.3557A>G (p.Asp1186Gly) c.656-654A>G (n.656-654A>G) c.3488A>G (p.Asp1163Gly) c.3551A>G (p.Asp1184Gly) c.3539A>G (p.Asp1180Gly) | |
2 | g.144389536T>G | CA348698957 | ZEB2 | c.*3409A>C (n.*3409A>C) c.2783A>C (p.Asp928Ala) c.3560A>C (p.Asp1187Ala) c.3448A>C (p.Ile1150Leu) n.3529A>C c.3224A>C (p.Asp1075Ala) c.3635A>C (p.Asp1212Ala) c.*3277A>C (n.*3277A>C) n.3660A>C c.151+6876A>C (n.151+6876A>C) c.780A>C (n.780A>C) c.1091A>C (p.Asp364Ala) c.3557A>C (p.Asp1186Ala) c.656-654A>C (n.656-654A>C) c.3488A>C (p.Asp1163Ala) c.3551A>C (p.Asp1184Ala) c.3539A>C (p.Asp1180Ala) | |
2 | g.144389537C>A | CA348698958 | ZEB2 | c.*3408G>T (n.*3408G>T) c.2782G>T (p.Asp928Tyr) c.3559G>T (p.Asp1187Tyr) c.3447G>T (p.Glu1149Asp) n.3528G>T c.3223G>T (p.Asp1075Tyr) c.3634G>T (p.Asp1212Tyr) c.*3276G>T (n.*3276G>T) n.3659G>T c.151+6875G>T (n.151+6875G>T) c.779G>T (n.779G>T) c.1090G>T (p.Asp364Tyr) c.3556G>T (p.Asp1186Tyr) c.656-655G>T (n.656-655G>T) c.3487G>T (p.Asp1163Tyr) c.3550G>T (p.Asp1184Tyr) c.3538G>T (p.Asp1180Tyr) | |
2 | g.144389537C>G | CA348698959 | ZEB2 | c.*3408G>C (n.*3408G>C) c.2782G>C (p.Asp928His) c.3559G>C (p.Asp1187His) c.3447G>C (p.Glu1149Asp) n.3528G>C c.3223G>C (p.Asp1075His) c.3634G>C (p.Asp1212His) c.*3276G>C (n.*3276G>C) n.3659G>C c.151+6875G>C (n.151+6875G>C) c.779G>C (n.779G>C) c.1090G>C (p.Asp364His) c.3556G>C (p.Asp1186His) c.656-655G>C (n.656-655G>C) c.3487G>C (p.Asp1163His) c.3550G>C (p.Asp1184His) c.3538G>C (p.Asp1180His) | |
2 | g.144389537C>T | CA348698960 | ZEB2 | c.*3408G>A (n.*3408G>A) c.2782G>A (p.Asp928Asn) c.3559G>A (p.Asp1187Asn) c.3447G>A (p.Glu1149=) n.3528G>A c.3223G>A (p.Asp1075Asn) c.3634G>A (p.Asp1212Asn) c.*3276G>A (n.*3276G>A) n.3659G>A c.151+6875G>A (n.151+6875G>A) c.779G>A (n.779G>A) c.1090G>A (p.Asp364Asn) c.3556G>A (p.Asp1186Asn) c.656-655G>A (n.656-655G>A) c.3487G>A (p.Asp1163Asn) c.3550G>A (p.Asp1184Asn) c.3538G>A (p.Asp1180Asn) | |
2 | g.144389538T>A | CA429441066 | ZEB2 | c.*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=) | |
2 | g.144389538T>C | CA429441067 | ZEB2 | c.*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=) | |
2 | g.144389538T>G | CA429441068 | ZEB2 | c.*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=) | |
2 | g.144389539C>A | CA1898103 | ZEB2 | c.*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 |
2 | g.144389539C= | CA1294881241 | ZEB2 | c.*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=) | |
2 | g.144389539C>G | CA348698966 | ZEB2 | c.*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 |
2 | g.144389539C>T | CA348698962 | ZEB2 | c.*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) | |
2 | g.144389540C>A | CA348698969 | ZEB2 | c.*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) | |
2 | g.144389540C>G | CA348698976 | ZEB2 | c.*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) | |
2 | g.144389540C>T | CA348698978 | ZEB2 | c.*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) | |
2 | g.144389541A>C | CA429441069 | ZEB2 | c.*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=) | |
2 | g.144389541A>G | CA429441070 | ZEB2 | c.*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 |
2 | g.144389541A>T | CA429441071 | ZEB2 | c.*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=) | |
2 | g.144389542G>A | CA348698981 | ZEB2 | c.*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 |
2 | g.144389542G>C | CA348698983 | ZEB2 | c.*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) | |
2 | g.144389542G>T | CA348698985 | ZEB2 | c.*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) | |
2 | g.144389543T>A | CA348698988 | ZEB2 | c.*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) | |
2 | g.144389543T>C | CA348698990 | ZEB2 | c.*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) | |
2 | g.144389543T>G | CA348698991 | ZEB2 | c.*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 |
2 | g.144389544C>A | CA348698994 | ZEB2 | c.*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) | |
2 | g.144389544C= | CA1294881243 | ZEB2 | c.*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=) | |
2 | g.144389544C>G | CA348698996 | ZEB2 | c.*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 |
2 | g.144389544C>T | CA429441072 | ZEB2 | c.*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 |
2 | g.144389544_144389547delinsCTCT | CA1294881242 | ZEB2 | c.*3398_*3401delinsAGAG (n.*3398_*3401delinsAGAG) c.2772_2775delinsAGAG (p.Glu924=) c.3549_3552delinsAGAG (p.Glu1183=) c.3437_3440delinsAGAG (p.Lys1146=) n.3518_3521delinsAGAG c.3213_3216delinsAGAG (p.Glu1071=) c.3624_3627delinsAGAG (p.Glu1208=) c.*3266_*3269delinsAGAG (n.*3266_*3269delinsAGAG) n.3649_3652delinsAGAG c.151+6865_151+6868delinsAGAG (n.151+6865_151+6868delinsAGAG) c.769_772delinsAGAG (n.769_772delinsAGAG) c.1080_1083delinsAGAG (p.Glu360=) c.3546_3549delinsAGAG (p.Glu1182=) c.656-665_656-662delinsAGAG (n.656-665_656-662delinsAGAG) c.3477_3480delinsAGAG (p.Glu1159=) c.3540_3543delinsAGAG (p.Glu1180=) c.3528_3531delinsAGAG (p.Glu1176=) | |
2 | g.144389545T>A | CA348699005 | ZEB2 | c.*3400A>T (n.*3400A>T) c.2774A>T (p.Glu925Val) c.3551A>T (p.Glu1184Val) c.3439A>T (p.Arg1147Ter) n.3520A>T c.3215A>T (p.Glu1072Val) c.3626A>T (p.Glu1209Val) c.*3268A>T (n.*3268A>T) n.3651A>T c.151+6867A>T (n.151+6867A>T) c.771A>T (n.771A>T) c.1082A>T (p.Glu361Val) c.3548A>T (p.Glu1183Val) c.656-663A>T (n.656-663A>T) c.3479A>T (p.Glu1160Val) c.3542A>T (p.Glu1181Val) c.3530A>T (p.Glu1177Val) | |
2 | g.144389545T>C | CA348699002 | ZEB2 | c.*3400A>G (n.*3400A>G) c.2774A>G (p.Glu925Gly) c.3551A>G (p.Glu1184Gly) c.3439A>G (p.Arg1147Gly) n.3520A>G c.3215A>G (p.Glu1072Gly) c.3626A>G (p.Glu1209Gly) c.*3268A>G (n.*3268A>G) n.3651A>G c.151+6867A>G (n.151+6867A>G) c.771A>G (n.771A>G) c.1082A>G (p.Glu361Gly) c.3548A>G (p.Glu1183Gly) c.656-663A>G (n.656-663A>G) c.3479A>G (p.Glu1160Gly) c.3542A>G (p.Glu1181Gly) c.3530A>G (p.Glu1177Gly) | |
2 | g.144389545T>G | CA348699000 | ZEB2 | c.*3400A>C (n.*3400A>C) c.2774A>C (p.Glu925Ala) c.3551A>C (p.Glu1184Ala) c.3439A>C (p.Arg1147=) n.3520A>C c.3215A>C (p.Glu1072Ala) c.3626A>C (p.Glu1209Ala) c.*3268A>C (n.*3268A>C) n.3651A>C c.151+6867A>C (n.151+6867A>C) c.771A>C (n.771A>C) c.1082A>C (p.Glu361Ala) c.3548A>C (p.Glu1183Ala) c.656-663A>C (n.656-663A>C) c.3479A>C (p.Glu1160Ala) c.3542A>C (p.Glu1181Ala) c.3530A>C (p.Glu1177Ala) | |
2 | g.144389550_144389552del | CA1898104 | ZEB2 | c.*3398_*3400del (n.*3398_*3400del) c.2772_2774del (p.Glu925del) c.3549_3551del (p.Glu1184del) c.3437_3439del (p.Lys1146del) n.3518_3520del c.3213_3215del (p.Glu1072del) c.3624_3626del (p.Glu1209del) c.*3266_*3268del (n.*3266_*3268del) n.3649_3651del c.151+6865_151+6867del (n.151+6865_151+6867del) c.769_771del (n.769_771del) c.1080_1082del (p.Glu361del) c.3546_3548del (p.Glu1183del) c.656-665_656-663del (n.656-665_656-663del) c.3477_3479del (p.Glu1160del) c.3540_3542del (p.Glu1181del) c.3528_3530del (p.Glu1177del) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
2 | g.144389546C>A | CA348699008 | ZEB2 | c.*3399G>T (n.*3399G>T) c.2773G>T (p.Glu925Ter) c.3550G>T (p.Glu1184Ter) c.3438G>T (p.Lys1146Asn) n.3519G>T c.3214G>T (p.Glu1072Ter) c.3625G>T (p.Glu1209Ter) c.*3267G>T (n.*3267G>T) n.3650G>T c.151+6866G>T (n.151+6866G>T) c.770G>T (n.770G>T) c.1081G>T (p.Glu361Ter) c.3547G>T (p.Glu1183Ter) c.656-664G>T (n.656-664G>T) c.3478G>T (p.Glu1160Ter) c.3541G>T (p.Glu1181Ter) c.3529G>T (p.Glu1177Ter) | |
2 | g.144389546C>G | CA348699010 | ZEB2 | c.*3399G>C (n.*3399G>C) c.2773G>C (p.Glu925Gln) c.3550G>C (p.Glu1184Gln) c.3438G>C (p.Lys1146Asn) n.3519G>C c.3214G>C (p.Glu1072Gln) c.3625G>C (p.Glu1209Gln) c.*3267G>C (n.*3267G>C) n.3650G>C c.151+6866G>C (n.151+6866G>C) c.770G>C (n.770G>C) c.1081G>C (p.Glu361Gln) c.3547G>C (p.Glu1183Gln) c.656-664G>C (n.656-664G>C) c.3478G>C (p.Glu1160Gln) c.3541G>C (p.Glu1181Gln) c.3529G>C (p.Glu1177Gln) | |
2 | g.144389546C>T | CA348699012 | ZEB2 | c.*3399G>A (n.*3399G>A) c.2773G>A (p.Glu925Lys) c.3550G>A (p.Glu1184Lys) c.3438G>A (p.Lys1146=) n.3519G>A c.3214G>A (p.Glu1072Lys) c.3625G>A (p.Glu1209Lys) c.*3267G>A (n.*3267G>A) n.3650G>A c.151+6866G>A (n.151+6866G>A) c.770G>A (n.770G>A) c.1081G>A (p.Glu361Lys) c.3547G>A (p.Glu1183Lys) c.656-664G>A (n.656-664G>A) c.3478G>A (p.Glu1160Lys) c.3541G>A (p.Glu1181Lys) c.3529G>A (p.Glu1177Lys) | |
2 | g.144389547T>A | CA348699015 | ZEB2 | c.*3398A>T (n.*3398A>T) c.2772A>T (p.Glu924Asp) c.3549A>T (p.Glu1183Asp) c.3437A>T (p.Lys1146Met) n.3518A>T c.3213A>T (p.Glu1071Asp) c.3624A>T (p.Glu1208Asp) c.*3266A>T (n.*3266A>T) n.3649A>T c.151+6865A>T (n.151+6865A>T) c.769A>T (n.769A>T) c.1080A>T (p.Glu360Asp) c.3546A>T (p.Glu1182Asp) c.656-665A>T (n.656-665A>T) c.3477A>T (p.Glu1159Asp) c.3540A>T (p.Glu1180Asp) c.3528A>T (p.Glu1176Asp) | |
2 | g.144389547T>C | CA429441073 | ZEB2 | c.*3398A>G (n.*3398A>G) c.2772A>G (p.Glu924=) c.3549A>G (p.Glu1183=) c.3437A>G (p.Lys1146Arg) n.3518A>G c.3213A>G (p.Glu1071=) c.3624A>G (p.Glu1208=) c.*3266A>G (n.*3266A>G) n.3649A>G c.151+6865A>G (n.151+6865A>G) c.769A>G (n.769A>G) c.1080A>G (p.Glu360=) c.3546A>G (p.Glu1182=) c.656-665A>G (n.656-665A>G) c.3477A>G (p.Glu1159=) c.3540A>G (p.Glu1180=) c.3528A>G (p.Glu1176=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.144389547T>G | CA348699017 | ZEB2 | c.*3398A>C (n.*3398A>C) c.2772A>C (p.Glu924Asp) c.3549A>C (p.Glu1183Asp) c.3437A>C (p.Lys1146Thr) n.3518A>C c.3213A>C (p.Glu1071Asp) c.3624A>C (p.Glu1208Asp) c.*3266A>C (n.*3266A>C) n.3649A>C c.151+6865A>C (n.151+6865A>C) c.769A>C (n.769A>C) c.1080A>C (p.Glu360Asp) c.3546A>C (p.Glu1182Asp) c.656-665A>C (n.656-665A>C) c.3477A>C (p.Glu1159Asp) c.3540A>C (p.Glu1180Asp) c.3528A>C (p.Glu1176Asp) | |
2 | g.144389547T= | CA1294881244 | ZEB2 | c.*3398A= (n.*3398A=) c.2772A= (p.Glu924=) c.3549A= (p.Glu1183=) c.3437A= (p.Lys1146=) n.3518A= c.3213A= (p.Glu1071=) c.3624A= (p.Glu1208=) c.*3266A= (n.*3266A=) n.3649A= c.151+6865A= (n.151+6865A=) c.769A= (n.769A=) c.1080A= (p.Glu360=) c.3546A= (p.Glu1182=) c.656-665A= (n.656-665A=) c.3477A= (p.Glu1159=) c.3540A= (p.Glu1180=) c.3528A= (p.Glu1176=) | |
2 | g.144389548T>A | CA348699019 | ZEB2 | c.*3397A>T (n.*3397A>T) c.2771A>T (p.Glu924Val) c.3548A>T (p.Glu1183Val) c.3436A>T (p.Lys1146Ter) n.3517A>T c.3212A>T (p.Glu1071Val) c.3623A>T (p.Glu1208Val) c.*3265A>T (n.*3265A>T) n.3648A>T c.151+6864A>T (n.151+6864A>T) c.768A>T (n.768A>T) c.1079A>T (p.Glu360Val) c.3545A>T (p.Glu1182Val) c.656-666A>T (n.656-666A>T) c.3476A>T (p.Glu1159Val) c.3539A>T (p.Glu1180Val) c.3527A>T (p.Glu1176Val) | dbSNP |
2 | g.144389548T>C | CA57549230 | ZEB2 | c.*3397A>G (n.*3397A>G) c.2771A>G (p.Glu924Gly) c.3548A>G (p.Glu1183Gly) c.3436A>G (p.Lys1146Glu) n.3517A>G c.3212A>G (p.Glu1071Gly) c.3623A>G (p.Glu1208Gly) c.*3265A>G (n.*3265A>G) n.3648A>G c.151+6864A>G (n.151+6864A>G) c.768A>G (n.768A>G) c.1079A>G (p.Glu360Gly) c.3545A>G (p.Glu1182Gly) c.656-666A>G (n.656-666A>G) c.3476A>G (p.Glu1159Gly) c.3539A>G (p.Glu1180Gly) c.3527A>G (p.Glu1176Gly) | dbSNP |
2 | g.144389548T>G | CA348699023 | ZEB2 | c.*3397A>C (n.*3397A>C) c.2771A>C (p.Glu924Ala) c.3548A>C (p.Glu1183Ala) c.3436A>C (p.Lys1146Gln) n.3517A>C c.3212A>C (p.Glu1071Ala) c.3623A>C (p.Glu1208Ala) c.*3265A>C (n.*3265A>C) n.3648A>C c.151+6864A>C (n.151+6864A>C) c.768A>C (n.768A>C) c.1079A>C (p.Glu360Ala) c.3545A>C (p.Glu1182Ala) c.656-666A>C (n.656-666A>C) c.3476A>C (p.Glu1159Ala) c.3539A>C (p.Glu1180Ala) c.3527A>C (p.Glu1176Ala) | |
2 | g.144389548T= | CA1294881245 | ZEB2 | c.*3397A= (n.*3397A=) c.2771A= (p.Glu924=) c.3548A= (p.Glu1183=) c.3436A= (p.Lys1146=) n.3517A= c.3212A= (p.Glu1071=) c.3623A= (p.Glu1208=) c.*3265A= (n.*3265A=) n.3648A= c.151+6864A= (n.151+6864A=) c.768A= (n.768A=) c.1079A= (p.Glu360=) c.3545A= (p.Glu1182=) c.656-666A= (n.656-666A=) c.3476A= (p.Glu1159=) c.3539A= (p.Glu1180=) c.3527A= (p.Glu1176=) | |
2 | g.144389549C>A | CA348699025 | ZEB2 | c.*3396G>T (n.*3396G>T) c.2770G>T (p.Glu924Ter) c.3547G>T (p.Glu1183Ter) c.3435G>T (p.Lys1145Asn) n.3516G>T c.3211G>T (p.Glu1071Ter) c.3622G>T (p.Glu1208Ter) c.*3264G>T (n.*3264G>T) n.3647G>T c.151+6863G>T (n.151+6863G>T) c.767G>T (n.767G>T) c.1078G>T (p.Glu360Ter) c.3544G>T (p.Glu1182Ter) c.656-667G>T (n.656-667G>T) c.3475G>T (p.Glu1159Ter) c.3538G>T (p.Glu1180Ter) c.3526G>T (p.Glu1176Ter) | |
2 | g.144389549C= | CA1294881246 | ZEB2 | c.*3396G= (n.*3396G=) c.2770G= (p.Glu924=) c.3547G= (p.Glu1183=) c.3435G= (p.Lys1145=) n.3516G= c.3211G= (p.Glu1071=) c.3622G= (p.Glu1208=) c.*3264G= (n.*3264G=) n.3647G= c.151+6863G= (n.151+6863G=) c.767G= (n.767G=) c.1078G= (p.Glu360=) c.3544G= (p.Glu1182=) c.656-667G= (n.656-667G=) c.3475G= (p.Glu1159=) c.3538G= (p.Glu1180=) c.3526G= (p.Glu1176=) | |
2 | g.144389549C>G | CA348699028 | ZEB2 | c.*3396G>C (n.*3396G>C) c.2770G>C (p.Glu924Gln) c.3547G>C (p.Glu1183Gln) c.3435G>C (p.Lys1145Asn) n.3516G>C c.3211G>C (p.Glu1071Gln) c.3622G>C (p.Glu1208Gln) c.*3264G>C (n.*3264G>C) n.3647G>C c.151+6863G>C (n.151+6863G>C) c.767G>C (n.767G>C) c.1078G>C (p.Glu360Gln) c.3544G>C (p.Glu1182Gln) c.656-667G>C (n.656-667G>C) c.3475G>C (p.Glu1159Gln) c.3538G>C (p.Glu1180Gln) c.3526G>C (p.Glu1176Gln) | dbSNP |
2 | g.144389549C>T | CA348699030 | ZEB2 | c.*3396G>A (n.*3396G>A) c.2770G>A (p.Glu924Lys) c.3547G>A (p.Glu1183Lys) c.3435G>A (p.Lys1145=) n.3516G>A c.3211G>A (p.Glu1071Lys) c.3622G>A (p.Glu1208Lys) c.*3264G>A (n.*3264G>A) n.3647G>A c.151+6863G>A (n.151+6863G>A) c.767G>A (n.767G>A) c.1078G>A (p.Glu360Lys) c.3544G>A (p.Glu1182Lys) c.656-667G>A (n.656-667G>A) c.3475G>A (p.Glu1159Lys) c.3538G>A (p.Glu1180Lys) c.3526G>A (p.Glu1176Lys) | COSMIC |
2 | g.144389550T>A | CA348699033 | ZEB2 | c.*3395A>T (n.*3395A>T) c.2769A>T (p.Glu923Asp) c.3546A>T (p.Glu1182Asp) c.3434A>T (p.Lys1145Met) n.3515A>T c.3210A>T (p.Glu1070Asp) c.3621A>T (p.Glu1207Asp) c.*3263A>T (n.*3263A>T) n.3646A>T c.151+6862A>T (n.151+6862A>T) c.766A>T (n.766A>T) c.1077A>T (p.Glu359Asp) c.3543A>T (p.Glu1181Asp) c.656-668A>T (n.656-668A>T) c.3474A>T (p.Glu1158Asp) c.3537A>T (p.Glu1179Asp) c.3525A>T (p.Glu1175Asp) | |
2 | g.144389550T>C | CA429441074 | ZEB2 | c.*3395A>G (n.*3395A>G) c.2769A>G (p.Glu923=) c.3546A>G (p.Glu1182=) c.3434A>G (p.Lys1145Arg) n.3515A>G c.3210A>G (p.Glu1070=) c.3621A>G (p.Glu1207=) c.*3263A>G (n.*3263A>G) n.3646A>G c.151+6862A>G (n.151+6862A>G) c.766A>G (n.766A>G) c.1077A>G (p.Glu359=) c.3543A>G (p.Glu1181=) c.656-668A>G (n.656-668A>G) c.3474A>G (p.Glu1158=) c.3537A>G (p.Glu1179=) c.3525A>G (p.Glu1175=) | gnomAD v4 |
2 | g.144389550T>G | CA348699034 | ZEB2 | c.*3395A>C (n.*3395A>C) c.2769A>C (p.Glu923Asp) c.3546A>C (p.Glu1182Asp) c.3434A>C (p.Lys1145Thr) n.3515A>C c.3210A>C (p.Glu1070Asp) c.3621A>C (p.Glu1207Asp) c.*3263A>C (n.*3263A>C) n.3646A>C c.151+6862A>C (n.151+6862A>C) c.766A>C (n.766A>C) c.1077A>C (p.Glu359Asp) c.3543A>C (p.Glu1181Asp) c.656-668A>C (n.656-668A>C) c.3474A>C (p.Glu1158Asp) c.3537A>C (p.Glu1179Asp) c.3525A>C (p.Glu1175Asp) | |
2 | g.144389551T>A | CA348699039 | ZEB2 | c.*3394A>T (n.*3394A>T) c.2768A>T (p.Glu923Val) c.3545A>T (p.Glu1182Val) c.3433A>T (p.Lys1145Ter) n.3514A>T c.3209A>T (p.Glu1070Val) c.3620A>T (p.Glu1207Val) c.*3262A>T (n.*3262A>T) n.3645A>T c.151+6861A>T (n.151+6861A>T) c.765A>T (n.765A>T) c.1076A>T (p.Glu359Val) c.3542A>T (p.Glu1181Val) c.656-669A>T (n.656-669A>T) c.3473A>T (p.Glu1158Val) c.3536A>T (p.Glu1179Val) c.3524A>T (p.Glu1175Val) | |
2 | g.144389551T>C | CA348699041 | ZEB2 | c.*3394A>G (n.*3394A>G) c.2768A>G (p.Glu923Gly) c.3545A>G (p.Glu1182Gly) c.3433A>G (p.Lys1145Glu) n.3514A>G c.3209A>G (p.Glu1070Gly) c.3620A>G (p.Glu1207Gly) c.*3262A>G (n.*3262A>G) n.3645A>G c.151+6861A>G (n.151+6861A>G) c.765A>G (n.765A>G) c.1076A>G (p.Glu359Gly) c.3542A>G (p.Glu1181Gly) c.656-669A>G (n.656-669A>G) c.3473A>G (p.Glu1158Gly) c.3536A>G (p.Glu1179Gly) c.3524A>G (p.Glu1175Gly) | |
2 | g.144389551T>G | CA348699037 | ZEB2 | c.*3394A>C (n.*3394A>C) c.2768A>C (p.Glu923Ala) c.3545A>C (p.Glu1182Ala) c.3433A>C (p.Lys1145Gln) n.3514A>C c.3209A>C (p.Glu1070Ala) c.3620A>C (p.Glu1207Ala) c.*3262A>C (n.*3262A>C) n.3645A>C c.151+6861A>C (n.151+6861A>C) c.765A>C (n.765A>C) c.1076A>C (p.Glu359Ala) c.3542A>C (p.Glu1181Ala) c.656-669A>C (n.656-669A>C) c.3473A>C (p.Glu1158Ala) c.3536A>C (p.Glu1179Ala) c.3524A>C (p.Glu1175Ala) | |
2 | g.144389551_144389552delinsTC | CA1294881247 | ZEB2 | c.*3393_*3394delinsGA (n.*3393_*3394delinsGA) c.2767_2768delinsGA (p.Glu923=) c.3544_3545delinsGA (p.Glu1182=) c.3432_3433delinsGA (p.Met1144=) n.3513_3514delinsGA c.3208_3209delinsGA (p.Glu1070=) c.3619_3620delinsGA (p.Glu1207=) c.*3261_*3262delinsGA (n.*3261_*3262delinsGA) n.3644_3645delinsGA c.151+6860_151+6861delinsGA (n.151+6860_151+6861delinsGA) c.764_765delinsGA (n.764_765delinsGA) c.1075_1076delinsGA (p.Glu359=) c.3541_3542delinsGA (p.Glu1181=) c.656-670_656-669delinsGA (n.656-670_656-669delinsGA) c.3472_3473delinsGA (p.Glu1158=) c.3535_3536delinsGA (p.Glu1179=) c.3523_3524delinsGA (p.Glu1175=) | |
2 | g.144389552del | CA235588 | ZEB2 | c.*3393del (n.*3393del) c.2767del (p.Glu923LysfsTer?) c.3544del (p.Glu1182LysfsTer?) c.3432del (p.Met1144IlefsTer12) n.3513del c.3208del (p.Glu1070LysfsTer?) c.3619del (p.Glu1207LysfsTer?) c.*3261del (n.*3261del) n.3644del c.151+6860del (n.151+6860del) c.764del (n.764del) c.1075del (p.Glu359LysfsTer?) c.3541del (p.Glu1181LysfsTer?) c.656-670del (n.656-670del) c.3472del (p.Glu1158LysfsTer?) c.3535del (p.Glu1179LysfsTer?) c.3523del (p.Glu1175LysfsTer?) | ClinVar dbSNP |
2 | g.144389552C>A | CA348699047 | ZEB2 | c.*3393G>T (n.*3393G>T) c.2767G>T (p.Glu923Ter) c.3544G>T (p.Glu1182Ter) c.3432G>T (p.Met1144Ile) n.3513G>T c.3208G>T (p.Glu1070Ter) c.3619G>T (p.Glu1207Ter) c.*3261G>T (n.*3261G>T) n.3644G>T c.151+6860G>T (n.151+6860G>T) c.764G>T (n.764G>T) c.1075G>T (p.Glu359Ter) c.3541G>T (p.Glu1181Ter) c.656-670G>T (n.656-670G>T) c.3472G>T (p.Glu1158Ter) c.3535G>T (p.Glu1179Ter) c.3523G>T (p.Glu1175Ter) | |
2 | g.144389552C>G | CA348699045 | ZEB2 | c.*3393G>C (n.*3393G>C) c.2767G>C (p.Glu923Gln) c.3544G>C (p.Glu1182Gln) c.3432G>C (p.Met1144Ile) n.3513G>C c.3208G>C (p.Glu1070Gln) c.3619G>C (p.Glu1207Gln) c.*3261G>C (n.*3261G>C) n.3644G>C c.151+6860G>C (n.151+6860G>C) c.764G>C (n.764G>C) c.1075G>C (p.Glu359Gln) c.3541G>C (p.Glu1181Gln) c.656-670G>C (n.656-670G>C) c.3472G>C (p.Glu1158Gln) c.3535G>C (p.Glu1179Gln) c.3523G>C (p.Glu1175Gln) | |
2 | g.144389552C>T | CA348699050 | ZEB2 | c.*3393G>A (n.*3393G>A) c.2767G>A (p.Glu923Lys) c.3544G>A (p.Glu1182Lys) c.3432G>A (p.Met1144Ile) n.3513G>A c.3208G>A (p.Glu1070Lys) c.3619G>A (p.Glu1207Lys) c.*3261G>A (n.*3261G>A) n.3644G>A c.151+6860G>A (n.151+6860G>A) c.764G>A (n.764G>A) c.1075G>A (p.Glu359Lys) c.3541G>A (p.Glu1181Lys) c.656-670G>A (n.656-670G>A) c.3472G>A (p.Glu1158Lys) c.3535G>A (p.Glu1179Lys) c.3523G>A (p.Glu1175Lys) | |
2 | g.144389553A= | CA1294881248 | ZEB2 | c.*3392T= (n.*3392T=) c.2766T= (p.Asp922=) c.3543T= (p.Asp1181=) c.3431T= (p.Met1144=) n.3512T= c.3207T= (p.Asp1069=) c.3618T= (p.Asp1206=) c.*3260T= (n.*3260T=) n.3643T= c.151+6859T= (n.151+6859T=) c.763T= (n.763T=) c.1074T= (p.Asp358=) c.3540T= (p.Asp1180=) c.656-671T= (n.656-671T=) c.3471T= (p.Asp1157=) c.3534T= (p.Asp1178=) c.3522T= (p.Asp1174=) | |
2 | g.144389553A>C | CA348699051 | ZEB2 | c.*3392T>G (n.*3392T>G) c.2766T>G (p.Asp922Glu) c.3543T>G (p.Asp1181Glu) c.3431T>G (p.Met1144Arg) n.3512T>G c.3207T>G (p.Asp1069Glu) c.3618T>G (p.Asp1206Glu) c.*3260T>G (n.*3260T>G) n.3643T>G c.151+6859T>G (n.151+6859T>G) c.763T>G (n.763T>G) c.1074T>G (p.Asp358Glu) c.3540T>G (p.Asp1180Glu) c.656-671T>G (n.656-671T>G) c.3471T>G (p.Asp1157Glu) c.3534T>G (p.Asp1178Glu) c.3522T>G (p.Asp1174Glu) | |
2 | g.144389553A>G | CA429441075 | ZEB2 | c.*3392T>C (n.*3392T>C) c.2766T>C (p.Asp922=) c.3543T>C (p.Asp1181=) c.3431T>C (p.Met1144Thr) n.3512T>C c.3207T>C (p.Asp1069=) c.3618T>C (p.Asp1206=) c.*3260T>C (n.*3260T>C) n.3643T>C c.151+6859T>C (n.151+6859T>C) c.763T>C (n.763T>C) c.1074T>C (p.Asp358=) c.3540T>C (p.Asp1180=) c.656-671T>C (n.656-671T>C) c.3471T>C (p.Asp1157=) c.3534T>C (p.Asp1178=) c.3522T>C (p.Asp1174=) | |
2 | g.144389553A>T | CA348699052 | ZEB2 | c.*3392T>A (n.*3392T>A) c.2766T>A (p.Asp922Glu) c.3543T>A (p.Asp1181Glu) c.3431T>A (p.Met1144Lys) n.3512T>A c.3207T>A (p.Asp1069Glu) c.3618T>A (p.Asp1206Glu) c.*3260T>A (n.*3260T>A) n.3643T>A c.151+6859T>A (n.151+6859T>A) c.763T>A (n.763T>A) c.1074T>A (p.Asp358Glu) c.3540T>A (p.Asp1180Glu) c.656-671T>A (n.656-671T>A) c.3471T>A (p.Asp1157Glu) c.3534T>A (p.Asp1178Glu) c.3522T>A (p.Asp1174Glu) | dbSNP |
2 | g.144389554T>A | CA348699053 | ZEB2 | c.*3391A>T (n.*3391A>T) c.2765A>T (p.Asp922Val) c.3542A>T (p.Asp1181Val) c.3430A>T (p.Met1144Leu) n.3511A>T c.3206A>T (p.Asp1069Val) c.3617A>T (p.Asp1206Val) c.*3259A>T (n.*3259A>T) n.3642A>T c.151+6858A>T (n.151+6858A>T) c.762A>T (n.762A>T) c.1073A>T (p.Asp358Val) c.3539A>T (p.Asp1180Val) c.656-672A>T (n.656-672A>T) c.3470A>T (p.Asp1157Val) c.3533A>T (p.Asp1178Val) c.3521A>T (p.Asp1174Val) | |
2 | g.144389554T>C | CA348699054 | ZEB2 | c.*3391A>G (n.*3391A>G) c.2765A>G (p.Asp922Gly) c.3542A>G (p.Asp1181Gly) c.3430A>G (p.Met1144Val) n.3511A>G c.3206A>G (p.Asp1069Gly) c.3617A>G (p.Asp1206Gly) c.*3259A>G (n.*3259A>G) n.3642A>G c.151+6858A>G (n.151+6858A>G) c.762A>G (n.762A>G) c.1073A>G (p.Asp358Gly) c.3539A>G (p.Asp1180Gly) c.656-672A>G (n.656-672A>G) c.3470A>G (p.Asp1157Gly) c.3533A>G (p.Asp1178Gly) c.3521A>G (p.Asp1174Gly) | |
2 | g.144389554T>G | CA348699055 | ZEB2 | c.*3391A>C (n.*3391A>C) c.2765A>C (p.Asp922Ala) c.3542A>C (p.Asp1181Ala) c.3430A>C (p.Met1144Leu) n.3511A>C c.3206A>C (p.Asp1069Ala) c.3617A>C (p.Asp1206Ala) c.*3259A>C (n.*3259A>C) n.3642A>C c.151+6858A>C (n.151+6858A>C) c.762A>C (n.762A>C) c.1073A>C (p.Asp358Ala) c.3539A>C (p.Asp1180Ala) c.656-672A>C (n.656-672A>C) c.3470A>C (p.Asp1157Ala) c.3533A>C (p.Asp1178Ala) c.3521A>C (p.Asp1174Ala) | |
2 | g.144389555C>A | CA348699056 | ZEB2 | c.*3390G>T (n.*3390G>T) c.2764G>T (p.Asp922Tyr) c.3541G>T (p.Asp1181Tyr) c.3429G>T (p.Glu1143Asp) n.3510G>T c.3205G>T (p.Asp1069Tyr) c.3616G>T (p.Asp1206Tyr) c.*3258G>T (n.*3258G>T) n.3641G>T c.151+6857G>T (n.151+6857G>T) c.761G>T (n.761G>T) c.1072G>T (p.Asp358Tyr) c.3538G>T (p.Asp1180Tyr) c.656-673G>T (n.656-673G>T) c.3469G>T (p.Asp1157Tyr) c.3532G>T (p.Asp1178Tyr) c.3520G>T (p.Asp1174Tyr) | |
2 | g.144389555C>G | CA348699057 | ZEB2 | c.*3390G>C (n.*3390G>C) c.2764G>C (p.Asp922His) c.3541G>C (p.Asp1181His) c.3429G>C (p.Glu1143Asp) n.3510G>C c.3205G>C (p.Asp1069His) c.3616G>C (p.Asp1206His) c.*3258G>C (n.*3258G>C) n.3641G>C c.151+6857G>C (n.151+6857G>C) c.761G>C (n.761G>C) c.1072G>C (p.Asp358His) c.3538G>C (p.Asp1180His) c.656-673G>C (n.656-673G>C) c.3469G>C (p.Asp1157His) c.3532G>C (p.Asp1178His) c.3520G>C (p.Asp1174His) | |
2 | g.144389555C>T | CA348699058 | ZEB2 | c.*3390G>A (n.*3390G>A) c.2764G>A (p.Asp922Asn) c.3541G>A (p.Asp1181Asn) c.3429G>A (p.Glu1143=) n.3510G>A c.3205G>A (p.Asp1069Asn) c.3616G>A (p.Asp1206Asn) c.*3258G>A (n.*3258G>A) n.3641G>A c.151+6857G>A (n.151+6857G>A) c.761G>A (n.761G>A) c.1072G>A (p.Asp358Asn) c.3538G>A (p.Asp1180Asn) c.656-673G>A (n.656-673G>A) c.3469G>A (p.Asp1157Asn) c.3532G>A (p.Asp1178Asn) c.3520G>A (p.Asp1174Asn) | |
2 | g.144389556T>A | CA429441076 | ZEB2 | c.*3389A>T (n.*3389A>T) c.2763A>T (p.Arg921=) c.3540A>T (p.Arg1180=) c.3428A>T (p.Glu1143Val) n.3509A>T c.3204A>T (p.Arg1068=) c.3615A>T (p.Arg1205=) c.*3257A>T (n.*3257A>T) n.3640A>T c.151+6856A>T (n.151+6856A>T) c.760A>T (n.760A>T) c.1071A>T (p.Arg357=) c.3537A>T (p.Arg1179=) c.656-674A>T (n.656-674A>T) c.3468A>T (p.Arg1156=) c.3531A>T (p.Arg1177=) c.3519A>T (p.Arg1173=) | |
2 | g.144389556T>C | CA429441077 | ZEB2 | c.*3389A>G (n.*3389A>G) c.2763A>G (p.Arg921=) c.3540A>G (p.Arg1180=) c.3428A>G (p.Glu1143Gly) n.3509A>G c.3204A>G (p.Arg1068=) c.3615A>G (p.Arg1205=) c.*3257A>G (n.*3257A>G) n.3640A>G c.151+6856A>G (n.151+6856A>G) c.760A>G (n.760A>G) c.1071A>G (p.Arg357=) c.3537A>G (p.Arg1179=) c.656-674A>G (n.656-674A>G) c.3468A>G (p.Arg1156=) c.3531A>G (p.Arg1177=) c.3519A>G (p.Arg1173=) | |
2 | g.144389556T>G | CA429441078 | ZEB2 | c.*3389A>C (n.*3389A>C) c.2763A>C (p.Arg921=) c.3540A>C (p.Arg1180=) c.3428A>C (p.Glu1143Ala) n.3509A>C c.3204A>C (p.Arg1068=) c.3615A>C (p.Arg1205=) c.*3257A>C (n.*3257A>C) n.3640A>C c.151+6856A>C (n.151+6856A>C) c.760A>C (n.760A>C) c.1071A>C (p.Arg357=) c.3537A>C (p.Arg1179=) c.656-674A>C (n.656-674A>C) c.3468A>C (p.Arg1156=) c.3531A>C (p.Arg1177=) c.3519A>C (p.Arg1173=) | |
2 | g.144389557C>A | CA348699059 | ZEB2 | c.*3388G>T (n.*3388G>T) c.2762G>T (p.Arg921Leu) c.3539G>T (p.Arg1180Leu) c.3427G>T (p.Glu1143Ter) n.3508G>T c.3203G>T (p.Arg1068Leu) c.3614G>T (p.Arg1205Leu) c.*3256G>T (n.*3256G>T) n.3639G>T c.151+6855G>T (n.151+6855G>T) c.759G>T (n.759G>T) c.1070G>T (p.Arg357Leu) c.3536G>T (p.Arg1179Leu) c.656-675G>T (n.656-675G>T) c.3467G>T (p.Arg1156Leu) c.3530G>T (p.Arg1177Leu) c.3518G>T (p.Arg1173Leu) | |
2 | g.144389557C>G | CA348699060 | ZEB2 | c.*3388G>C (n.*3388G>C) c.2762G>C (p.Arg921Pro) c.3539G>C (p.Arg1180Pro) c.3427G>C (p.Glu1143Gln) n.3508G>C c.3203G>C (p.Arg1068Pro) c.3614G>C (p.Arg1205Pro) c.*3256G>C (n.*3256G>C) n.3639G>C c.151+6855G>C (n.151+6855G>C) c.759G>C (n.759G>C) c.1070G>C (p.Arg357Pro) c.3536G>C (p.Arg1179Pro) c.656-675G>C (n.656-675G>C) c.3467G>C (p.Arg1156Pro) c.3530G>C (p.Arg1177Pro) c.3518G>C (p.Arg1173Pro) | |
2 | g.144389557C>T | CA348699061 | ZEB2 | c.*3388G>A (n.*3388G>A) c.2762G>A (p.Arg921Gln) c.3539G>A (p.Arg1180Gln) c.3427G>A (p.Glu1143Lys) n.3508G>A c.3203G>A (p.Arg1068Gln) c.3614G>A (p.Arg1205Gln) c.*3256G>A (n.*3256G>A) n.3639G>A c.151+6855G>A (n.151+6855G>A) c.759G>A (n.759G>A) c.1070G>A (p.Arg357Gln) c.3536G>A (p.Arg1179Gln) c.656-675G>A (n.656-675G>A) c.3467G>A (p.Arg1156Gln) c.3530G>A (p.Arg1177Gln) c.3518G>A (p.Arg1173Gln) | ClinVar gnomAD v4 |
2 | g.144389558G>A | CA348699062 | ZEB2 | c.*3387C>T (n.*3387C>T) c.2761C>T (p.Arg921Ter) c.3538C>T (p.Arg1180Ter) c.3426C>T (p.Tyr1142=) n.3507C>T c.3202C>T (p.Arg1068Ter) c.3613C>T (p.Arg1205Ter) c.*3255C>T (n.*3255C>T) n.3638C>T c.151+6854C>T (n.151+6854C>T) c.758C>T (n.758C>T) c.1069C>T (p.Arg357Ter) c.3535C>T (p.Arg1179Ter) c.656-676C>T (n.656-676C>T) c.3466C>T (p.Arg1156Ter) c.3529C>T (p.Arg1177Ter) c.3517C>T (p.Arg1173Ter) | gnomAD v4 |
2 | g.144389558G>C | CA1898105 | ZEB2 | c.*3387C>G (n.*3387C>G) c.2761C>G (p.Arg921Gly) c.3538C>G (p.Arg1180Gly) c.3426C>G (p.Tyr1142Ter) n.3507C>G c.3202C>G (p.Arg1068Gly) c.3613C>G (p.Arg1205Gly) c.*3255C>G (n.*3255C>G) n.3638C>G c.151+6854C>G (n.151+6854C>G) c.758C>G (n.758C>G) c.1069C>G (p.Arg357Gly) c.3535C>G (p.Arg1179Gly) c.656-676C>G (n.656-676C>G) c.3466C>G (p.Arg1156Gly) c.3529C>G (p.Arg1177Gly) c.3517C>G (p.Arg1173Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.144389558G= | CA1294881249 | ZEB2 | c.*3387C= (n.*3387C=) c.2761C= (p.Arg921=) c.3538C= (p.Arg1180=) c.3426C= (p.Tyr1142=) n.3507C= c.3202C= (p.Arg1068=) c.3613C= (p.Arg1205=) c.*3255C= (n.*3255C=) n.3638C= c.151+6854C= (n.151+6854C=) c.758C= (n.758C=) c.1069C= (p.Arg357=) c.3535C= (p.Arg1179=) c.656-676C= (n.656-676C=) c.3466C= (p.Arg1156=) c.3529C= (p.Arg1177=) c.3517C= (p.Arg1173=) | |
2 | g.144389558G>T | CA429441079 | ZEB2 | c.*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 |
2 | g.144389559T>A | CA429441081 | ZEB2 | c.*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 |
2 | g.144389559T>C | CA348699063 | ZEB2 | c.*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) | |
2 | g.144389559T>G | CA429441080 | ZEB2 | c.*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=) | |
2 | g.144389559T= | CA1294881250 | ZEB2 | c.*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=) | |
2 | g.144389560A= | CA1294881251 | ZEB2 | c.*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=) | |
2 | g.144389560A>C | CA348699064 | ZEB2 | c.*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) | |
2 | g.144389560A>G | CA348699066 | ZEB2 | c.*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 |
2 | g.144389560A>T | CA348699065 | ZEB2 | c.*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 |
2 | g.144389561T>A | CA348699067 | ZEB2 | c.*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) | |
2 | g.144389561T>C | CA348699068 | ZEB2 | c.*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 |
2 | g.144389561T>G | CA348699069 | ZEB2 | c.*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) | |
2 | g.144389561T= | CA1294881252 | ZEB2 | c.*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=) | |
2 | g.144389562C>A | CA429441082 | ZEB2 | c.*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=) | |
2 | g.144389562C>G | CA429441083 | ZEB2 | c.*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=) | |
2 | g.144389562C>T | CA429441084 | ZEB2 | c.*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 |
2 | g.144389562_144389563delinsCG | CA1294881253 | ZEB2 | c.*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=) | |
2 | g.144389563del | CA273384 | ZEB2 | c.*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 |
2 | g.144389563G>A | CA348699070 | ZEB2 | c.*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) | |
2 | g.144389563G>C | CA348699071 | ZEB2 | c.*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) | |
2 | g.144389563G>T | CA348699072 | ZEB2 | c.*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) | |
2 | g.144389564T>A | CA348699073 | ZEB2 | c.*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) | |
2 | g.144389564T>C | CA348699074 | ZEB2 | c.*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) | |
2 | g.144389564T>G | CA348699075 | ZEB2 | c.*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) | |
2 | g.144389565T>A | CA348699077 | ZEB2 | c.*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) | |
2 | g.144389565T>C | CA429441085 | ZEB2 | c.*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=) | |
2 | g.144389565T>G | CA348699076 | ZEB2 | c.*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) | |
2 | g.144389566T>A | CA348699078 | ZEB2 | c.*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) | |
2 | g.144389566T>C | CA348699079 | ZEB2 | c.*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) | |
2 | g.144389566T>G | CA348699080 | ZEB2 | c.*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) | |
2 | g.144389567del | CA2586969975 | ZEB2 | c.*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?) | |
2 | g.144389567C>A | CA348699081 | ZEB2 | c.*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) | |
2 | g.144389567C>G | CA348699082 | ZEB2 | c.*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) | |
2 | g.144389567C>T | CA348699083 | ZEB2 | c.*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 |
2 | g.144389568G>A | CA1898106 | ZEB2 | c.*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 |
2 | g.144389568G>C | CA429441087 | ZEB2 | c.*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 |
2 | g.144389568G= | CA1294881254 | ZEB2 | c.*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=) | |
2 | g.144389568G>T | CA429441086 | ZEB2 | c.*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=) | |
2 | g.144389569G>A | CA348699084 | ZEB2 | c.*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) | |
2 | g.144389569G>C | CA348699085 | ZEB2 | c.*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) | |
2 | g.144389569G= | CA1294881255 | ZEB2 | c.*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=) | |
2 | g.144389569G>T | CA1898107 | ZEB2 | c.*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 |
2 | g.144389570G>A | CA57549253 | ZEB2 | c.*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 |
2 | g.144389570G>C | CA348699086 | ZEB2 | c.*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 |
2 | g.144389570G= | CA1294881256 | ZEB2 | c.*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=) | |
2 | g.144389570G>T | CA348699087 | ZEB2 | c.*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) | |
2 | g.144389571A>C | CA348699089 | ZEB2 | c.*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 |
2 | g.144389571A>G | CA429441088 | ZEB2 | c.*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=) | |
2 | g.144389571A>T | CA348699088 | ZEB2 | c.*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 |
2 | g.144389572T>A | CA348699090 | ZEB2 | c.*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 |
2 | g.144389572T>C | CA348699091 | ZEB2 | c.*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) | |
2 | g.144389572T>G | CA348699092 | ZEB2 | c.*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) | |
2 | g.144389572_144389573delinsTC | CA1294881257 | ZEB2 | c.*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=) | |
2 | g.144389573C>A | CA348699093 | ZEB2 | c.*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) | |
2 | g.144389573C>G | CA348699094 | ZEB2 | c.*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) | |
2 | g.144389573C>T | CA348699095 | ZEB2 | c.*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) | |
2 | g.144389574del | CA537029208 | ZEB2 | c.*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 |
2 | g.144389574C>A | CA1898108 | ZEB2 | c.*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 |
2 | g.144389574C= | CA1294881258 | ZEB2 | c.*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=) | |
2 | g.144389574C>G | CA429441090 | ZEB2 | c.*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=) | |
2 | g.144389574C>T | CA429441089 | ZEB2 | c.*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 |
2 | g.144389575G>A | CA348699096 | ZEB2 | c.*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) | |
2 | g.144389575G>C | CA348699097 | ZEB2 | c.*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) | |
2 | g.144389575G>T | CA348699098 | ZEB2 | c.*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) | |
2 | g.144389576T>A | CA348699099 | ZEB2 | c.*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) | |
2 | g.144389576T>C | CA348699100 | ZEB2 | c.*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 |
2 | g.144389576T>G | CA348699101 | ZEB2 | c.*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) | |
2 | g.144389577A>C | CA348699103 | ZEB2 | c.*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) | |
2 | g.144389577A>G | CA429441091 | ZEB2 | c.*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 |
2 | g.144389577A>T | CA348699102 | ZEB2 | c.*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) | |
2 | g.144389578T>A | CA348699104 | ZEB2 | c.*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) | |
2 | g.144389578T>C | CA348699106 | ZEB2 | c.*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) | |
2 | g.144389578T>G | CA348699105 | ZEB2 | c.*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) | |
2 | g.144389579C>A | CA348699107 | ZEB2 | c.*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) | |
2 | g.144389579C>G | CA348699108 | ZEB2 | c.*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) | |
2 | g.144389579C>T | CA348699109 | ZEB2 | c.*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) | |
2 | g.144389580C>A | CA348699110 | ZEB2 | c.*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) | |
2 | g.144389580C>G | CA348699111 | ZEB2 | c.*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) | |
2 | g.144389580C>T | CA348699112 | ZEB2 | c.*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) | |
2 | g.144389581A>C | CA348699113 | ZEB2 | c.*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) | |
2 | g.144389581A>G | CA348699114 | ZEB2 | c.*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 |
2 | g.144389581A>T | CA348699115 | ZEB2 | c.*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) | |
2 | g.144389582T>A | CA348699116 | ZEB2 | c.*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) | |
2 | g.144389582T>C | CA348699117 | ZEB2 | c.*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) | |
2 | g.144389582T>G | CA348699118 | ZEB2 | c.*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) | |
2 | g.144389583A= | CA1294881259 | ZEB2 | c.*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=) | |
2 | g.144389583A>C | CA348699119 | ZEB2 | c.*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) | |
2 | g.144389583A>G | CA429441092 | ZEB2 | c.*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 |
2 | g.144389583A>T | CA348699120 | ZEB2 | c.*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) | |
2 | g.144389584C>A | CA348699121 | ZEB2 | c.*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) | |
2 | g.144389584C= | CA1294881260 | ZEB2 | c.*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=) | |
2 | g.144389584C>G | CA348699122 | ZEB2 | c.*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 |
2 | g.144389584C>T | CA348699123 | ZEB2 | c.*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 |
2 | g.144389585T>A | CA348699124 | ZEB2 | c.*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) | |
2 | g.144389585T>C | CA348699125 | ZEB2 | c.*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) | |
2 | g.144389585T>G | CA348699126 | ZEB2 | c.*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) | |
2 | g.144389586T>A | CA348699127 | ZEB2 | c.*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) | |
2 | g.144389586T>C | CA429441093 | ZEB2 | c.*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 |
2 | g.144389586T>G | CA348699128 | ZEB2 | c.*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) | |
2 | g.144389586T= | CA1294881261 | ZEB2 | c.*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=) | |
2 | g.144389587T>A | CA348699129 | ZEB2 | c.*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) | |
2 | g.144389587T>C | CA348699130 | ZEB2 | c.*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 |
2 | g.144389587T>G | CA348699131 | ZEB2 | c.*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) | |
2 | g.144389587T= | CA1294881262 | ZEB2 | c.*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=) | |
2 | g.144389588T>A | CA348699133 | ZEB2 | c.*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) | |
2 | g.144389588T>C | CA348699134 | ZEB2 | c.*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) | |
2 | g.144389588T>G | CA348699132 | ZEB2 | c.*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) | |
2 | g.144389589A>C | CA348699135 | ZEB2 | c.*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) | |
2 | g.144389589A>G | CA429441094 | ZEB2 | c.*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=) | |
2 | g.144389589A>T | CA348699136 | ZEB2 | c.*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) | |
2 | g.144389590T>A | CA348699137 | ZEB2 | c.*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) | |
2 | g.144389590T>C | CA348699138 | ZEB2 | c.*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) | |
2 | g.144389590T>G | CA348699139 | ZEB2 | c.*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) | |
2 | g.144389591T>A | CA348699140 | ZEB2 | c.*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) | |
2 | g.144389591T>C | CA348699141 | ZEB2 | c.*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) | |
2 | g.144389591T>G | CA348699142 | ZEB2 | c.*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) | |
2 | g.144389592T>A | CA348699143 | ZEB2 | c.*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) | |
2 | g.144389592T>C | CA429441095 | ZEB2 | c.*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=) | |
2 | g.144389592T>G | CA348699144 | ZEB2 | c.*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) | |
2 | g.144389593T>A | CA348699145 | ZEB2 | c.*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) | |
2 | g.144389593T>C | CA348699146 | ZEB2 | c.*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) | |
2 | g.144389593T>G | CA348699147 | ZEB2 | c.*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 |
2 | g.144389594C>A | CA348699150 | ZEB2 | c.*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) | |
2 | g.144389594C>G | CA348699149 | ZEB2 | c.*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) | |
2 | g.144389594C>T | CA348699148 | ZEB2 | c.*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) | |
2 | g.144389595A>C | CA348699151 | ZEB2 | c.*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) | |
2 | g.144389595A>G | CA429441096 | ZEB2 | c.*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=) | |
2 | g.144389595A>T | CA348699152 | ZEB2 | c.*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) | |
2 | g.144389596C>A | CA348699153 | ZEB2 | c.*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) | |
2 | g.144389596C>G | CA348699154 | ZEB2 | c.*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) | |
2 | g.144389596C>T | CA348699155 | ZEB2 | c.*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) | |
2 | g.144389596_144389597delinsCT | CA1294881263 | ZEB2 | c.*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=) | |
2 | g.144389597T>A | CA348699156 | ZEB2 | c.*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) | |
2 | g.144389597T>C | CA348699157 | ZEB2 | c.*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) | |
2 | g.144389597T>G | CA348699158 | ZEB2 | c.*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) | |
2 | g.144389599del | CA297644 | ZEB2 | c.*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 |
2 | g.144389598T>A | CA348699159 | ZEB2 | c.*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) | |
2 | g.144389598T>C | CA429441097 | ZEB2 | c.*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=) | |
2 | g.144389598T>G | CA348699160 | ZEB2 | c.*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 |
2 | g.144389599T>A | CA348699161 | ZEB2 | c.*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) | |
2 | g.144389599T>C | CA348699162 | ZEB2 | c.*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 |
2 | g.144389599T>G | CA348699163 | ZEB2 | c.*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) | |
2 | g.144389600C>A | CA348699165 | ZEB2 | c.*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) | |
2 | g.144389600C>G | CA348699166 | ZEB2 | c.*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) | |
2 | g.144389600C>T | CA348699164 | ZEB2 | c.*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) | |
2 | g.144389601T>A | CA348699168 | ZEB2 | c.*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 |
2 | g.144389601T>C | CA57549300 | ZEB2 | c.*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 |
2 | g.144389601T>G | CA348699167 | ZEB2 | c.*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) | |
2 | g.144389601T= | CA1294881264 | ZEB2 | c.*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=) | |
2 | g.144389602T>A | CA348699169 | ZEB2 | c.*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) | |
2 | g.144389602T>C | CA348699170 | ZEB2 | c.*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) | |
2 | g.144389602T>G | CA348699171 | ZEB2 | c.*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) | |
2 | g.144389603C>A | CA348699172 | ZEB2 | c.*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) | |
2 | g.144389603C>G | CA348699173 | ZEB2 | c.*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) | |
2 | g.144389603C>T | CA348699174 | ZEB2 | c.*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) | |
2 | g.144389604C>A | CA348699175 | ZEB2 | c.*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 |
2 | g.144389604C>G | CA348699176 | ZEB2 | c.*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 |
2 | g.144389604C>T | CA429441098 | ZEB2 | c.*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 |
2 | g.144389605T>A | CA348699177 | ZEB2 | c.*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) | |
2 | g.144389605T>C | CA348699178 | ZEB2 | c.*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) | |
2 | g.144389605T>G | CA348699179 | ZEB2 | c.*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) | |
2 | g.144389606C>A | CA348699182 | ZEB2 | c.*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) | |
2 | g.144389606C>G | CA348699181 | ZEB2 | c.*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) | |
2 | g.144389606C>T | CA348699180 | ZEB2 | c.*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) | |
2 | g.144389607T>A | CA348699183 | ZEB2 | c.*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) | |
2 | g.144389607T>C | CA429441099 | ZEB2 | c.*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 |
2 | g.144389607T>G | CA348699184 | ZEB2 | c.*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) | |
2 | g.144389607T= | CA1294881265 | ZEB2 | c.*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=) | |
2 | g.144389608del | CA2586969976 | ZEB2 | c.*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?) | |
2 | g.144389608T>A | CA348699185 | ZEB2 | c.*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) | |
2 | g.144389608T>C | CA348699186 | ZEB2 | c.*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) | |
2 | g.144389608T>G | CA348699187 | ZEB2 | c.*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) | |
2 | g.144389609C>A | CA348699188 | ZEB2 | c.*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) | |
2 | g.144389609C= | CA1294881266 | ZEB2 | c.*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=) | |
2 | g.144389609C>G | CA348699189 | ZEB2 | c.*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) | |
2 | g.144389609C>T | CA1898109 | ZEB2 | c.*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 |
2 | g.144389610C>A | CA348699190 | ZEB2 | c.*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) | |
2 | g.144389610C>G | CA348699191 | ZEB2 | c.*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) | |
2 | g.144389610C>T | CA429441100 | ZEB2 | c.*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=) | |
2 | g.144389611T>A | CA348699192 | ZEB2 | c.*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) | |
2 | g.144389611T>C | CA348699193 | ZEB2 | c.*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) | |
2 | g.144389611T>G | CA348699194 | ZEB2 | c.*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) | |
2 | g.144389612C>A | CA348699197 | ZEB2 | c.*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) | |
2 | g.144389612C>G | CA348699196 | ZEB2 | c.*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) | |
2 | g.144389612C>T | CA348699195 | ZEB2 | c.*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) | |
2 | g.144389613C>A | CA348699199 | ZEB2 | c.*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) | |
2 | g.144389613C>G | CA348699198 | ZEB2 | c.*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) | |
2 | g.144389613C>T | CA429441102 | ZEB2 | c.*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 |
2 | g.144389614T>A | CA348699200 | ZEB2 | c.*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) | |
2 | g.144389614T>C | CA348699201 | ZEB2 | c.*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) | |
2 | g.144389614T>G | CA348699202 | ZEB2 | c.*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) | |
2 | g.144389615C>A | CA348699203 | ZEB2 | c.*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) | |
2 | g.144389615C>G | CA348699204 | ZEB2 | c.*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) | |
2 | g.144389615C>T | CA348699205 | ZEB2 | c.*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 |
2 | g.144389616G>A | CA429441103 | ZEB2 | c.*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 |
2 | g.144389616G>C | CA348699206 | ZEB2 | c.*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 |
2 | g.144389616G= | CA1294881267 | ZEB2 | c.*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=) | |
2 | g.144389616G>T | CA348699207 | ZEB2 | c.*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 |
2 | g.144389616_144389618delinsTTC | CA2739271216 | ZEB2 | c.*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 |
2 | g.144389617A= | CA1294881268 | ZEB2 | c.*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=) | |
2 | g.144389617A>C | CA348699208 | ZEB2 | c.*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) | |
2 | g.144389617A>G | CA348699209 | ZEB2 | c.*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) | |
2 | g.144389617A>T | CA348699210 | ZEB2 | c.*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 |
2 | g.144389618A= | CA1294881269 | ZEB2 | c.*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=) | |
2 | g.144389618A>C | CA348699212 | ZEB2 | c.*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 |
2 | g.144389618A>G | CA348699213 | ZEB2 | c.*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) | |
2 | g.144389618A>T | CA348699211 | ZEB2 | c.*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 |
2 | g.144389619C>A | CA348699214 | ZEB2 | c.*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) | |
2 | g.144389619C= | CA1294881270 | ZEB2 | c.*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=) | |
2 | g.144389619C>G | CA348699215 | ZEB2 | c.*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) | |
2 | g.144389619C>T | CA1898110 | ZEB2 | c.*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 |
2 | g.144389620T>A | CA348699216 | ZEB2 | c.*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) | |
2 | g.144389620T>C | CA348699217 | ZEB2 | c.*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) | |
2 | g.144389620T>G | CA348699218 | ZEB2 | c.*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) | |
2 | g.144389621C>A | CA348699219 | ZEB2 | c.*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) | |
2 | g.144389621C>G | CA348699221 | ZEB2 | c.*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) | |
2 | g.144389621C>T | CA348699220 | ZEB2 | c.*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) | |
2 | g.144389622C>A | CA348699222 | ZEB2 | c.*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) | |
2 | g.144389622C= | CA1294881271 | ZEB2 | c.*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=) | |
2 | g.144389622C>G | CA348699223 | ZEB2 | c.*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) | |
2 | g.144389622C>T | CA429441104 | ZEB2 | c.*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 |
2 | g.144389623_144389624dup | CA2586969977 | ZEB2 | c.*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?) | |
2 | g.144389623T>A | CA348699224 | ZEB2 | c.*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) | |
2 | g.144389623T>C | CA348699225 | ZEB2 | c.*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) | |
2 | g.144389623T>G | CA348699226 | ZEB2 | c.*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) | |
2 | g.144389626_144389628del | CA2577152055 | ZEB2 | c.*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) | |
2 | g.144389624C>A | CA348699228 | ZEB2 | c.*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) | |
2 | g.144389624C>G | CA348699229 | ZEB2 | c.*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) | |
2 | g.144389624C>T | CA348699227 | ZEB2 | c.*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) | |
2 | g.144389625del | CA658766349 | ZEB2 | c.*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?) | |
2 | g.144389625G>A | CA148681 | ZEB2 | c.*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 |
2 | g.144389625G>C | CA348699231 | ZEB2 | c.*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) | |
2 | g.144389625G= | CA1294881272 | ZEB2 | c.*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=) | |
2 | g.144389625G>T | CA348699230 | ZEB2 | c.*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 |
2 | g.144389626T>A | CA348699232 | ZEB2 | c.*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) | |
2 | g.144389626T>C | CA348699233 | ZEB2 | c.*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) | |
2 | g.144389626T>G | CA348699234 | ZEB2 | c.*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) | |
2 | g.144389627C>A | CA348699235 | ZEB2 | c.*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) | |
2 | g.144389627C= | CA1294881273 | ZEB2 | c.*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=) | |
2 | g.144389627C>G | CA348699236 | ZEB2 | c.*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 |
2 | g.144389627C>T | CA348699237 | ZEB2 | c.*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 |
2 | g.144389628G>A | CA429441105 | ZEB2 | c.*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 |
2 | g.144389628G>C | CA429441106 | ZEB2 | c.*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=) | |
2 | g.144389628G>T | CA429441107 | ZEB2 | c.*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=) | |
2 | g.144389629C>A | CA348699238 | ZEB2 | c.*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) | |
2 | g.144389629C= | CA1294881274 | ZEB2 | c.*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=) | |
2 | g.144389629C>G | CA348699239 | ZEB2 | c.*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 |
2 | g.144389629C>T | CA348699240 | ZEB2 | c.*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) | |
2 | g.144389629_144389630insT | CA2542021771 | ZEB2 | c.*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) | |
2 | g.144389630C>A | CA1898111 | ZEB2 | c.*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 |
2 | g.144389630C= | CA1294881275 | ZEB2 | c.*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=) | |
2 | g.144389630C>G | CA348699241 | ZEB2 | c.*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) | |
2 | g.144389630C>T | CA348699242 | ZEB2 | c.*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) | |
2 | g.144389631A>C | CA348699243 | ZEB2 | c.*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) | |
2 | g.144389631A>G | CA429441108 | ZEB2 | c.*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=) | |
2 | g.144389631A>T | CA348699244 | ZEB2 | c.*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) | |
2 | g.144389632T>A | CA348699245 | ZEB2 | c.*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 |
2 | g.144389632T>C | CA348699246 | ZEB2 | c.*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) | |
2 | g.144389632T>G | CA348699247 | ZEB2 | c.*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 |
2 | g.144389633C>A | CA1898112 | ZEB2 | c.*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 |
2 | g.144389633C= | CA1294881276 | ZEB2 | c.*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=) | |
2 | g.144389633C>G | CA348699248 | ZEB2 | c.*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 |
2 | g.144389633C>T | CA348699249 | ZEB2 | c.*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 |
2 | g.144389634C>A | CA348699250 | ZEB2 | c.*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) | |
2 | g.144389634C>G | CA348699251 | ZEB2 | c.*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) | |
2 | g.144389634C>T | CA429441109 | ZEB2 | c.*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 |
2 | g.144389634_144389636del | CA2517152789 | ZEB2 | c.*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) | |
2 | g.144389635T>A | CA348699252 | ZEB2 | c.*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) | |
2 | g.144389635T>C | CA348699253 | ZEB2 | c.*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 |
2 | g.144389635T>G | CA348699254 | ZEB2 | c.*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) | |
2 | g.144389635T= | CA1294881277 | ZEB2 | c.*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=) |