Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.144389452T>ACA348698537ZEB2c.*3493A>T (n.*3493A>T)
c.2867A>T (p.Ter956Leu)
c.3644A>T (p.Ter1215Leu)
c.3532A>T (p.Asn1178Tyr)
n.3613A>T
c.3308A>T (p.Ter1103Leu)
c.3719A>T (p.Ter1240Leu)
c.*3361A>T (n.*3361A>T)
n.3744A>T
c.151+6960A>T (n.151+6960A>T)
c.864A>T (n.864A>T)
c.1175A>T (p.Ter392Leu)
c.3641A>T (p.Ter1214Leu)
c.656-570A>T (n.656-570A>T)
c.3572A>T (p.Ter1191Leu)
c.3635A>T (p.Ter1212Leu)
c.3623A>T (p.Ter1208Leu)
2g.144389452T>CCA429217440ZEB2c.*3493A>G (n.*3493A>G)
c.2867A>G (p.Ter956=)
c.3644A>G (p.Ter1215=)
c.3532A>G (p.Asn1178Asp)
n.3613A>G
c.3308A>G (p.Ter1103=)
c.3719A>G (p.Ter1240=)
c.*3361A>G (n.*3361A>G)
n.3744A>G
c.151+6960A>G (n.151+6960A>G)
c.864A>G (n.864A>G)
c.1175A>G (p.Ter392=)
c.3641A>G (p.Ter1214=)
c.656-570A>G (n.656-570A>G)
c.3572A>G (p.Ter1191=)
c.3635A>G (p.Ter1212=)
c.3623A>G (p.Ter1208=)
2g.144389452T>GCA348698538ZEB2c.*3493A>C (n.*3493A>C)
c.2867A>C (p.Ter956Ser)
c.3644A>C (p.Ter1215Ser)
c.3532A>C (p.Asn1178His)
n.3613A>C
c.3308A>C (p.Ter1103Ser)
c.3719A>C (p.Ter1240Ser)
c.*3361A>C (n.*3361A>C)
n.3744A>C
c.151+6960A>C (n.151+6960A>C)
c.864A>C (n.864A>C)
c.1175A>C (p.Ter392Ser)
c.3641A>C (p.Ter1214Ser)
c.656-570A>C (n.656-570A>C)
c.3572A>C (p.Ter1191Ser)
c.3635A>C (p.Ter1212Ser)
c.3623A>C (p.Ter1208Ser)
gnomAD v4
2g.144389453A=CA1294881207ZEB2c.*3492T= (n.*3492T=)
c.2866T= (p.Ter956=)
c.3643T= (p.Ter1215=)
c.3531T= (p.Cys1177=)
n.3612T=
c.3307T= (p.Ter1103=)
c.3718T= (p.Ter1240=)
c.*3360T= (n.*3360T=)
n.3743T=
c.151+6959T= (n.151+6959T=)
c.863T= (n.863T=)
c.1174T= (p.Ter392=)
c.3640T= (p.Ter1214=)
c.656-571T= (n.656-571T=)
c.3571T= (p.Ter1191=)
c.3634T= (p.Ter1212=)
c.3622T= (p.Ter1208=)
2g.144389453A>CCA348698539ZEB2c.*3492T>G (n.*3492T>G)
c.2866T>G (p.Ter956Glu)
c.3643T>G (p.Ter1215Glu)
c.3531T>G (p.Cys1177Trp)
n.3612T>G
c.3307T>G (p.Ter1103Glu)
c.3718T>G (p.Ter1240Glu)
c.*3360T>G (n.*3360T>G)
n.3743T>G
c.151+6959T>G (n.151+6959T>G)
c.863T>G (n.863T>G)
c.1174T>G (p.Ter392Glu)
c.3640T>G (p.Ter1214Glu)
c.656-571T>G (n.656-571T>G)
c.3571T>G (p.Ter1191Glu)
c.3634T>G (p.Ter1212Glu)
c.3622T>G (p.Ter1208Glu)
COSMIC
2g.144389453A>GCA57549171ZEB2c.*3492T>C (n.*3492T>C)
c.2866T>C (p.Ter956Gln)
c.3643T>C (p.Ter1215Gln)
c.3531T>C (p.Cys1177=)
n.3612T>C
c.3307T>C (p.Ter1103Gln)
c.3718T>C (p.Ter1240Gln)
c.*3360T>C (n.*3360T>C)
n.3743T>C
c.151+6959T>C (n.151+6959T>C)
c.863T>C (n.863T>C)
c.1174T>C (p.Ter392Gln)
c.3640T>C (p.Ter1214Gln)
c.656-571T>C (n.656-571T>C)
c.3571T>C (p.Ter1191Gln)
c.3634T>C (p.Ter1212Gln)
c.3622T>C (p.Ter1208Gln)
dbSNP
2g.144389453A>TCA348698540ZEB2c.*3492T>A (n.*3492T>A)
c.2866T>A (p.Ter956Lys)
c.3643T>A (p.Ter1215Lys)
c.3531T>A (p.Cys1177Ter)
n.3612T>A
c.3307T>A (p.Ter1103Lys)
c.3718T>A (p.Ter1240Lys)
c.*3360T>A (n.*3360T>A)
n.3743T>A
c.151+6959T>A (n.151+6959T>A)
c.863T>A (n.863T>A)
c.1174T>A (p.Ter392Lys)
c.3640T>A (p.Ter1214Lys)
c.656-571T>A (n.656-571T>A)
c.3571T>A (p.Ter1191Lys)
c.3634T>A (p.Ter1212Lys)
c.3622T>A (p.Ter1208Lys)
2g.144389454C>ACA348698541ZEB2c.*3491G>T (n.*3491G>T)
c.2865G>T (p.Met955Ile)
c.3642G>T (p.Met1214Ile)
c.3530G>T (p.Cys1177Phe)
n.3611G>T
c.3306G>T (p.Met1102Ile)
c.3717G>T (p.Met1239Ile)
c.*3359G>T (n.*3359G>T)
n.3742G>T
c.151+6958G>T (n.151+6958G>T)
c.862G>T (n.862G>T)
c.1173G>T (p.Met391Ile)
c.3639G>T (p.Met1213Ile)
c.656-572G>T (n.656-572G>T)
c.3570G>T (p.Met1190Ile)
c.3633G>T (p.Met1211Ile)
c.3621G>T (p.Met1207Ile)
2g.144389454C>GCA348698543ZEB2c.*3491G>C (n.*3491G>C)
c.2865G>C (p.Met955Ile)
c.3642G>C (p.Met1214Ile)
c.3530G>C (p.Cys1177Ser)
n.3611G>C
c.3306G>C (p.Met1102Ile)
c.3717G>C (p.Met1239Ile)
c.*3359G>C (n.*3359G>C)
n.3742G>C
c.151+6958G>C (n.151+6958G>C)
c.862G>C (n.862G>C)
c.1173G>C (p.Met391Ile)
c.3639G>C (p.Met1213Ile)
c.656-572G>C (n.656-572G>C)
c.3570G>C (p.Met1190Ile)
c.3633G>C (p.Met1211Ile)
c.3621G>C (p.Met1207Ile)
2g.144389454C>TCA348698542ZEB2c.*3491G>A (n.*3491G>A)
c.2865G>A (p.Met955Ile)
c.3642G>A (p.Met1214Ile)
c.3530G>A (p.Cys1177Tyr)
n.3611G>A
c.3306G>A (p.Met1102Ile)
c.3717G>A (p.Met1239Ile)
c.*3359G>A (n.*3359G>A)
n.3742G>A
c.151+6958G>A (n.151+6958G>A)
c.862G>A (n.862G>A)
c.1173G>A (p.Met391Ile)
c.3639G>A (p.Met1213Ile)
c.656-572G>A (n.656-572G>A)
c.3570G>A (p.Met1190Ile)
c.3633G>A (p.Met1211Ile)
c.3621G>A (p.Met1207Ile)
2g.144389455A=CA1294881208ZEB2c.*3490T= (n.*3490T=)
c.2864T= (p.Met955=)
c.3641T= (p.Met1214=)
c.3529T= (p.Cys1177=)
n.3610T=
c.3305T= (p.Met1102=)
c.3716T= (p.Met1239=)
c.*3358T= (n.*3358T=)
n.3741T=
c.151+6957T= (n.151+6957T=)
c.861T= (n.861T=)
c.1172T= (p.Met391=)
c.3638T= (p.Met1213=)
c.656-573T= (n.656-573T=)
c.3569T= (p.Met1190=)
c.3632T= (p.Met1211=)
c.3620T= (p.Met1207=)
2g.144389455A>CCA348698544ZEB2c.*3490T>G (n.*3490T>G)
c.2864T>G (p.Met955Arg)
c.3641T>G (p.Met1214Arg)
c.3529T>G (p.Cys1177Gly)
n.3610T>G
c.3305T>G (p.Met1102Arg)
c.3716T>G (p.Met1239Arg)
c.*3358T>G (n.*3358T>G)
n.3741T>G
c.151+6957T>G (n.151+6957T>G)
c.861T>G (n.861T>G)
c.1172T>G (p.Met391Arg)
c.3638T>G (p.Met1213Arg)
c.656-573T>G (n.656-573T>G)
c.3569T>G (p.Met1190Arg)
c.3632T>G (p.Met1211Arg)
c.3620T>G (p.Met1207Arg)
2g.144389455A>GCA348698546ZEB2c.*3490T>C (n.*3490T>C)
c.2864T>C (p.Met955Thr)
c.3641T>C (p.Met1214Thr)
c.3529T>C (p.Cys1177Arg)
n.3610T>C
c.3305T>C (p.Met1102Thr)
c.3716T>C (p.Met1239Thr)
c.*3358T>C (n.*3358T>C)
n.3741T>C
c.151+6957T>C (n.151+6957T>C)
c.861T>C (n.861T>C)
c.1172T>C (p.Met391Thr)
c.3638T>C (p.Met1213Thr)
c.656-573T>C (n.656-573T>C)
c.3569T>C (p.Met1190Thr)
c.3632T>C (p.Met1211Thr)
c.3620T>C (p.Met1207Thr)
dbSNP gnomAD v2 gnomAD v4
2g.144389455A>TCA348698545ZEB2c.*3490T>A (n.*3490T>A)
c.2864T>A (p.Met955Lys)
c.3641T>A (p.Met1214Lys)
c.3529T>A (p.Cys1177Ser)
n.3610T>A
c.3305T>A (p.Met1102Lys)
c.3716T>A (p.Met1239Lys)
c.*3358T>A (n.*3358T>A)
n.3741T>A
c.151+6957T>A (n.151+6957T>A)
c.861T>A (n.861T>A)
c.1172T>A (p.Met391Lys)
c.3638T>A (p.Met1213Lys)
c.656-573T>A (n.656-573T>A)
c.3569T>A (p.Met1190Lys)
c.3632T>A (p.Met1211Lys)
c.3620T>A (p.Met1207Lys)
2g.144389456T>ACA348698547ZEB2c.*3489A>T (n.*3489A>T)
c.2863A>T (p.Met955Leu)
c.3640A>T (p.Met1214Leu)
c.3528A>T (p.Ala1176=)
n.3609A>T
c.3304A>T (p.Met1102Leu)
c.3715A>T (p.Met1239Leu)
c.*3357A>T (n.*3357A>T)
n.3740A>T
c.151+6956A>T (n.151+6956A>T)
c.860A>T (n.860A>T)
c.1171A>T (p.Met391Leu)
c.3637A>T (p.Met1213Leu)
c.656-574A>T (n.656-574A>T)
c.3568A>T (p.Met1190Leu)
c.3631A>T (p.Met1211Leu)
c.3619A>T (p.Met1207Leu)
2g.144389456T>CCA1898093ZEB2c.*3489A>G (n.*3489A>G)
c.2863A>G (p.Met955Val)
c.3640A>G (p.Met1214Val)
c.3528A>G (p.Ala1176=)
n.3609A>G
c.3304A>G (p.Met1102Val)
c.3715A>G (p.Met1239Val)
c.*3357A>G (n.*3357A>G)
n.3740A>G
c.151+6956A>G (n.151+6956A>G)
c.860A>G (n.860A>G)
c.1171A>G (p.Met391Val)
c.3637A>G (p.Met1213Val)
c.656-574A>G (n.656-574A>G)
c.3568A>G (p.Met1190Val)
c.3631A>G (p.Met1211Val)
c.3619A>G (p.Met1207Val)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.144389456T>GCA348698548ZEB2c.*3489A>C (n.*3489A>C)
c.2863A>C (p.Met955Leu)
c.3640A>C (p.Met1214Leu)
c.3528A>C (p.Ala1176=)
n.3609A>C
c.3304A>C (p.Met1102Leu)
c.3715A>C (p.Met1239Leu)
c.*3357A>C (n.*3357A>C)
n.3740A>C
c.151+6956A>C (n.151+6956A>C)
c.860A>C (n.860A>C)
c.1171A>C (p.Met391Leu)
c.3637A>C (p.Met1213Leu)
c.656-574A>C (n.656-574A>C)
c.3568A>C (p.Met1190Leu)
c.3631A>C (p.Met1211Leu)
c.3619A>C (p.Met1207Leu)
2g.144389456T=CA1294881209ZEB2c.*3489A= (n.*3489A=)
c.2863A= (p.Met955=)
c.3640A= (p.Met1214=)
c.3528A= (p.Ala1176=)
n.3609A=
c.3304A= (p.Met1102=)
c.3715A= (p.Met1239=)
c.*3357A= (n.*3357A=)
n.3740A=
c.151+6956A= (n.151+6956A=)
c.860A= (n.860A=)
c.1171A= (p.Met391=)
c.3637A= (p.Met1213=)
c.656-574A= (n.656-574A=)
c.3568A= (p.Met1190=)
c.3631A= (p.Met1211=)
c.3619A= (p.Met1207=)
2g.144389457G>ACA429217443ZEB2c.*3488C>T (n.*3488C>T)
c.2862C>T (p.Gly954=)
c.3639C>T (p.Gly1213=)
c.3527C>T (p.Ala1176Val)
n.3608C>T
c.3303C>T (p.Gly1101=)
c.3714C>T (p.Gly1238=)
c.*3356C>T (n.*3356C>T)
n.3739C>T
c.151+6955C>T (n.151+6955C>T)
c.859C>T (n.859C>T)
c.1170C>T (p.Gly390=)
c.3636C>T (p.Gly1212=)
c.656-575C>T (n.656-575C>T)
c.3567C>T (p.Gly1189=)
c.3630C>T (p.Gly1210=)
c.3618C>T (p.Gly1206=)
2g.144389457G>CCA429217442ZEB2c.*3488C>G (n.*3488C>G)
c.2862C>G (p.Gly954=)
c.3639C>G (p.Gly1213=)
c.3527C>G (p.Ala1176Gly)
n.3608C>G
c.3303C>G (p.Gly1101=)
c.3714C>G (p.Gly1238=)
c.*3356C>G (n.*3356C>G)
n.3739C>G
c.151+6955C>G (n.151+6955C>G)
c.859C>G (n.859C>G)
c.1170C>G (p.Gly390=)
c.3636C>G (p.Gly1212=)
c.656-575C>G (n.656-575C>G)
c.3567C>G (p.Gly1189=)
c.3630C>G (p.Gly1210=)
c.3618C>G (p.Gly1206=)
2g.144389457G>TCA429217441ZEB2c.*3488C>A (n.*3488C>A)
c.2862C>A (p.Gly954=)
c.3639C>A (p.Gly1213=)
c.3527C>A (p.Ala1176Glu)
n.3608C>A
c.3303C>A (p.Gly1101=)
c.3714C>A (p.Gly1238=)
c.*3356C>A (n.*3356C>A)
n.3739C>A
c.151+6955C>A (n.151+6955C>A)
c.859C>A (n.859C>A)
c.1170C>A (p.Gly390=)
c.3636C>A (p.Gly1212=)
c.656-575C>A (n.656-575C>A)
c.3567C>A (p.Gly1189=)
c.3630C>A (p.Gly1210=)
c.3618C>A (p.Gly1206=)
2g.144389458C>ACA348698549ZEB2c.*3487G>T (n.*3487G>T)
c.2861G>T (p.Gly954Val)
c.3638G>T (p.Gly1213Val)
c.3526G>T (p.Ala1176Ser)
n.3607G>T
c.3302G>T (p.Gly1101Val)
c.3713G>T (p.Gly1238Val)
c.*3355G>T (n.*3355G>T)
n.3738G>T
c.151+6954G>T (n.151+6954G>T)
c.858G>T (n.858G>T)
c.1169G>T (p.Gly390Val)
c.3635G>T (p.Gly1212Val)
c.656-576G>T (n.656-576G>T)
c.3566G>T (p.Gly1189Val)
c.3629G>T (p.Gly1210Val)
c.3617G>T (p.Gly1206Val)
ClinVar
2g.144389458C>GCA348698550ZEB2c.*3487G>C (n.*3487G>C)
c.2861G>C (p.Gly954Ala)
c.3638G>C (p.Gly1213Ala)
c.3526G>C (p.Ala1176Pro)
n.3607G>C
c.3302G>C (p.Gly1101Ala)
c.3713G>C (p.Gly1238Ala)
c.*3355G>C (n.*3355G>C)
n.3738G>C
c.151+6954G>C (n.151+6954G>C)
c.858G>C (n.858G>C)
c.1169G>C (p.Gly390Ala)
c.3635G>C (p.Gly1212Ala)
c.656-576G>C (n.656-576G>C)
c.3566G>C (p.Gly1189Ala)
c.3629G>C (p.Gly1210Ala)
c.3617G>C (p.Gly1206Ala)
2g.144389458C>TCA348698551ZEB2c.*3487G>A (n.*3487G>A)
c.2861G>A (p.Gly954Asp)
c.3638G>A (p.Gly1213Asp)
c.3526G>A (p.Ala1176Thr)
n.3607G>A
c.3302G>A (p.Gly1101Asp)
c.3713G>A (p.Gly1238Asp)
c.*3355G>A (n.*3355G>A)
n.3738G>A
c.151+6954G>A (n.151+6954G>A)
c.858G>A (n.858G>A)
c.1169G>A (p.Gly390Asp)
c.3635G>A (p.Gly1212Asp)
c.656-576G>A (n.656-576G>A)
c.3566G>A (p.Gly1189Asp)
c.3629G>A (p.Gly1210Asp)
c.3617G>A (p.Gly1206Asp)
2g.144389459C>ACA348698554ZEB2c.*3486G>T (n.*3486G>T)
c.2860G>T (p.Gly954Cys)
c.3637G>T (p.Gly1213Cys)
c.3525G>T (p.Met1175Ile)
n.3606G>T
c.3301G>T (p.Gly1101Cys)
c.3712G>T (p.Gly1238Cys)
c.*3354G>T (n.*3354G>T)
n.3737G>T
c.151+6953G>T (n.151+6953G>T)
c.857G>T (n.857G>T)
c.1168G>T (p.Gly390Cys)
c.3634G>T (p.Gly1212Cys)
c.656-577G>T (n.656-577G>T)
c.3565G>T (p.Gly1189Cys)
c.3628G>T (p.Gly1210Cys)
c.3616G>T (p.Gly1206Cys)
2g.144389459C=CA1294881210ZEB2c.*3486G= (n.*3486G=)
c.2860G= (p.Gly954=)
c.3637G= (p.Gly1213=)
c.3525G= (p.Met1175=)
n.3606G=
c.3301G= (p.Gly1101=)
c.3712G= (p.Gly1238=)
c.*3354G= (n.*3354G=)
n.3737G=
c.151+6953G= (n.151+6953G=)
c.857G= (n.857G=)
c.1168G= (p.Gly390=)
c.3634G= (p.Gly1212=)
c.656-577G= (n.656-577G=)
c.3565G= (p.Gly1189=)
c.3628G= (p.Gly1210=)
c.3616G= (p.Gly1206=)
2g.144389459C>GCA348698552ZEB2c.*3486G>C (n.*3486G>C)
c.2860G>C (p.Gly954Arg)
c.3637G>C (p.Gly1213Arg)
c.3525G>C (p.Met1175Ile)
n.3606G>C
c.3301G>C (p.Gly1101Arg)
c.3712G>C (p.Gly1238Arg)
c.*3354G>C (n.*3354G>C)
n.3737G>C
c.151+6953G>C (n.151+6953G>C)
c.857G>C (n.857G>C)
c.1168G>C (p.Gly390Arg)
c.3634G>C (p.Gly1212Arg)
c.656-577G>C (n.656-577G>C)
c.3565G>C (p.Gly1189Arg)
c.3628G>C (p.Gly1210Arg)
c.3616G>C (p.Gly1206Arg)
2g.144389459C>TCA348698553ZEB2c.*3486G>A (n.*3486G>A)
c.2860G>A (p.Gly954Ser)
c.3637G>A (p.Gly1213Ser)
c.3525G>A (p.Met1175Ile)
n.3606G>A
c.3301G>A (p.Gly1101Ser)
c.3712G>A (p.Gly1238Ser)
c.*3354G>A (n.*3354G>A)
n.3737G>A
c.151+6953G>A (n.151+6953G>A)
c.857G>A (n.857G>A)
c.1168G>A (p.Gly390Ser)
c.3634G>A (p.Gly1212Ser)
c.656-577G>A (n.656-577G>A)
c.3565G>A (p.Gly1189Ser)
c.3628G>A (p.Gly1210Ser)
c.3616G>A (p.Gly1206Ser)
dbSNP
2g.144389460A>CCA348698555ZEB2c.*3485T>G (n.*3485T>G)
c.2859T>G (p.Asp953Glu)
c.3636T>G (p.Asp1212Glu)
c.3524T>G (p.Met1175Arg)
n.3605T>G
c.3300T>G (p.Asp1100Glu)
c.3711T>G (p.Asp1237Glu)
c.*3353T>G (n.*3353T>G)
n.3736T>G
c.151+6952T>G (n.151+6952T>G)
c.856T>G (n.856T>G)
c.1167T>G (p.Asp389Glu)
c.3633T>G (p.Asp1211Glu)
c.656-578T>G (n.656-578T>G)
c.3564T>G (p.Asp1188Glu)
c.3627T>G (p.Asp1209Glu)
c.3615T>G (p.Asp1205Glu)
2g.144389460A>GCA429217444ZEB2c.*3485T>C (n.*3485T>C)
c.2859T>C (p.Asp953=)
c.3636T>C (p.Asp1212=)
c.3524T>C (p.Met1175Thr)
n.3605T>C
c.3300T>C (p.Asp1100=)
c.3711T>C (p.Asp1237=)
c.*3353T>C (n.*3353T>C)
n.3736T>C
c.151+6952T>C (n.151+6952T>C)
c.856T>C (n.856T>C)
c.1167T>C (p.Asp389=)
c.3633T>C (p.Asp1211=)
c.656-578T>C (n.656-578T>C)
c.3564T>C (p.Asp1188=)
c.3627T>C (p.Asp1209=)
c.3615T>C (p.Asp1205=)
2g.144389460A>TCA348698556ZEB2c.*3485T>A (n.*3485T>A)
c.2859T>A (p.Asp953Glu)
c.3636T>A (p.Asp1212Glu)
c.3524T>A (p.Met1175Lys)
n.3605T>A
c.3300T>A (p.Asp1100Glu)
c.3711T>A (p.Asp1237Glu)
c.*3353T>A (n.*3353T>A)
n.3736T>A
c.151+6952T>A (n.151+6952T>A)
c.856T>A (n.856T>A)
c.1167T>A (p.Asp389Glu)
c.3633T>A (p.Asp1211Glu)
c.656-578T>A (n.656-578T>A)
c.3564T>A (p.Asp1188Glu)
c.3627T>A (p.Asp1209Glu)
c.3615T>A (p.Asp1205Glu)
2g.144389461T>ACA348698557ZEB2c.*3484A>T (n.*3484A>T)
c.2858A>T (p.Asp953Val)
c.3635A>T (p.Asp1212Val)
c.3523A>T (p.Met1175Leu)
n.3604A>T
c.3299A>T (p.Asp1100Val)
c.3710A>T (p.Asp1237Val)
c.*3352A>T (n.*3352A>T)
n.3735A>T
c.151+6951A>T (n.151+6951A>T)
c.855A>T (n.855A>T)
c.1166A>T (p.Asp389Val)
c.3632A>T (p.Asp1211Val)
c.656-579A>T (n.656-579A>T)
c.3563A>T (p.Asp1188Val)
c.3626A>T (p.Asp1209Val)
c.3614A>T (p.Asp1205Val)
2g.144389461T>CCA1898094ZEB2c.*3484A>G (n.*3484A>G)
c.2858A>G (p.Asp953Gly)
c.3635A>G (p.Asp1212Gly)
c.3523A>G (p.Met1175Val)
n.3604A>G
c.3299A>G (p.Asp1100Gly)
c.3710A>G (p.Asp1237Gly)
c.*3352A>G (n.*3352A>G)
n.3735A>G
c.151+6951A>G (n.151+6951A>G)
c.855A>G (n.855A>G)
c.1166A>G (p.Asp389Gly)
c.3632A>G (p.Asp1211Gly)
c.656-579A>G (n.656-579A>G)
c.3563A>G (p.Asp1188Gly)
c.3626A>G (p.Asp1209Gly)
c.3614A>G (p.Asp1205Gly)
dbSNP ExAC gnomAD v2
2g.144389461T>GCA348698558ZEB2c.*3484A>C (n.*3484A>C)
c.2858A>C (p.Asp953Ala)
c.3635A>C (p.Asp1212Ala)
c.3523A>C (p.Met1175Leu)
n.3604A>C
c.3299A>C (p.Asp1100Ala)
c.3710A>C (p.Asp1237Ala)
c.*3352A>C (n.*3352A>C)
n.3735A>C
c.151+6951A>C (n.151+6951A>C)
c.855A>C (n.855A>C)
c.1166A>C (p.Asp389Ala)
c.3632A>C (p.Asp1211Ala)
c.656-579A>C (n.656-579A>C)
c.3563A>C (p.Asp1188Ala)
c.3626A>C (p.Asp1209Ala)
c.3614A>C (p.Asp1205Ala)
2g.144389461T=CA1294881211ZEB2c.*3484A= (n.*3484A=)
c.2858A= (p.Asp953=)
c.3635A= (p.Asp1212=)
c.3523A= (p.Met1175=)
n.3604A=
c.3299A= (p.Asp1100=)
c.3710A= (p.Asp1237=)
c.*3352A= (n.*3352A=)
n.3735A=
c.151+6951A= (n.151+6951A=)
c.855A= (n.855A=)
c.1166A= (p.Asp389=)
c.3632A= (p.Asp1211=)
c.656-579A= (n.656-579A=)
c.3563A= (p.Asp1188=)
c.3626A= (p.Asp1209=)
c.3614A= (p.Asp1205=)
2g.144389462C>ACA348698559ZEB2c.*3483G>T (n.*3483G>T)
c.2857G>T (p.Asp953Tyr)
c.3634G>T (p.Asp1212Tyr)
c.3522G>T (p.Lys1174Asn)
n.3603G>T
c.3298G>T (p.Asp1100Tyr)
c.3709G>T (p.Asp1237Tyr)
c.*3351G>T (n.*3351G>T)
n.3734G>T
c.151+6950G>T (n.151+6950G>T)
c.854G>T (n.854G>T)
c.1165G>T (p.Asp389Tyr)
c.3631G>T (p.Asp1211Tyr)
c.656-580G>T (n.656-580G>T)
c.3562G>T (p.Asp1188Tyr)
c.3625G>T (p.Asp1209Tyr)
c.3613G>T (p.Asp1205Tyr)
2g.144389462C>GCA348698561ZEB2c.*3483G>C (n.*3483G>C)
c.2857G>C (p.Asp953His)
c.3634G>C (p.Asp1212His)
c.3522G>C (p.Lys1174Asn)
n.3603G>C
c.3298G>C (p.Asp1100His)
c.3709G>C (p.Asp1237His)
c.*3351G>C (n.*3351G>C)
n.3734G>C
c.151+6950G>C (n.151+6950G>C)
c.854G>C (n.854G>C)
c.1165G>C (p.Asp389His)
c.3631G>C (p.Asp1211His)
c.656-580G>C (n.656-580G>C)
c.3562G>C (p.Asp1188His)
c.3625G>C (p.Asp1209His)
c.3613G>C (p.Asp1205His)
2g.144389462C>TCA348698560ZEB2c.*3483G>A (n.*3483G>A)
c.2857G>A (p.Asp953Asn)
c.3634G>A (p.Asp1212Asn)
c.3522G>A (p.Lys1174=)
n.3603G>A
c.3298G>A (p.Asp1100Asn)
c.3709G>A (p.Asp1237Asn)
c.*3351G>A (n.*3351G>A)
n.3734G>A
c.151+6950G>A (n.151+6950G>A)
c.854G>A (n.854G>A)
c.1165G>A (p.Asp389Asn)
c.3631G>A (p.Asp1211Asn)
c.656-580G>A (n.656-580G>A)
c.3562G>A (p.Asp1188Asn)
c.3625G>A (p.Asp1209Asn)
c.3613G>A (p.Asp1205Asn)
2g.144389463T>ACA348698562ZEB2c.*3482A>T (n.*3482A>T)
c.2856A>T (p.Glu952Asp)
c.3633A>T (p.Glu1211Asp)
c.3521A>T (p.Lys1174Met)
n.3602A>T
c.3297A>T (p.Glu1099Asp)
c.3708A>T (p.Glu1236Asp)
c.*3350A>T (n.*3350A>T)
n.3733A>T
c.151+6949A>T (n.151+6949A>T)
c.853A>T (n.853A>T)
c.1164A>T (p.Glu388Asp)
c.3630A>T (p.Glu1210Asp)
c.656-581A>T (n.656-581A>T)
c.3561A>T (p.Glu1187Asp)
c.3624A>T (p.Glu1208Asp)
c.3612A>T (p.Glu1204Asp)
2g.144389463T>CCA429217447ZEB2c.*3482A>G (n.*3482A>G)
c.2856A>G (p.Glu952=)
c.3633A>G (p.Glu1211=)
c.3521A>G (p.Lys1174Arg)
n.3602A>G
c.3297A>G (p.Glu1099=)
c.3708A>G (p.Glu1236=)
c.*3350A>G (n.*3350A>G)
n.3733A>G
c.151+6949A>G (n.151+6949A>G)
c.853A>G (n.853A>G)
c.1164A>G (p.Glu388=)
c.3630A>G (p.Glu1210=)
c.656-581A>G (n.656-581A>G)
c.3561A>G (p.Glu1187=)
c.3624A>G (p.Glu1208=)
c.3612A>G (p.Glu1204=)
2g.144389463T>GCA348698563ZEB2c.*3482A>C (n.*3482A>C)
c.2856A>C (p.Glu952Asp)
c.3633A>C (p.Glu1211Asp)
c.3521A>C (p.Lys1174Thr)
n.3602A>C
c.3297A>C (p.Glu1099Asp)
c.3708A>C (p.Glu1236Asp)
c.*3350A>C (n.*3350A>C)
n.3733A>C
c.151+6949A>C (n.151+6949A>C)
c.853A>C (n.853A>C)
c.1164A>C (p.Glu388Asp)
c.3630A>C (p.Glu1210Asp)
c.656-581A>C (n.656-581A>C)
c.3561A>C (p.Glu1187Asp)
c.3624A>C (p.Glu1208Asp)
c.3612A>C (p.Glu1204Asp)
2g.144389464T>ACA348698564ZEB2c.*3481A>T (n.*3481A>T)
c.2855A>T (p.Glu952Val)
c.3632A>T (p.Glu1211Val)
c.3520A>T (p.Lys1174Ter)
n.3601A>T
c.3296A>T (p.Glu1099Val)
c.3707A>T (p.Glu1236Val)
c.*3349A>T (n.*3349A>T)
n.3732A>T
c.151+6948A>T (n.151+6948A>T)
c.852A>T (n.852A>T)
c.1163A>T (p.Glu388Val)
c.3629A>T (p.Glu1210Val)
c.656-582A>T (n.656-582A>T)
c.3560A>T (p.Glu1187Val)
c.3623A>T (p.Glu1208Val)
c.3611A>T (p.Glu1204Val)
2g.144389464T>CCA348698565ZEB2c.*3481A>G (n.*3481A>G)
c.2855A>G (p.Glu952Gly)
c.3632A>G (p.Glu1211Gly)
c.3520A>G (p.Lys1174Glu)
n.3601A>G
c.3296A>G (p.Glu1099Gly)
c.3707A>G (p.Glu1236Gly)
c.*3349A>G (n.*3349A>G)
n.3732A>G
c.151+6948A>G (n.151+6948A>G)
c.852A>G (n.852A>G)
c.1163A>G (p.Glu388Gly)
c.3629A>G (p.Glu1210Gly)
c.656-582A>G (n.656-582A>G)
c.3560A>G (p.Glu1187Gly)
c.3623A>G (p.Glu1208Gly)
c.3611A>G (p.Glu1204Gly)
2g.144389464T>GCA348698566ZEB2c.*3481A>C (n.*3481A>C)
c.2855A>C (p.Glu952Ala)
c.3632A>C (p.Glu1211Ala)
c.3520A>C (p.Lys1174Gln)
n.3601A>C
c.3296A>C (p.Glu1099Ala)
c.3707A>C (p.Glu1236Ala)
c.*3349A>C (n.*3349A>C)
n.3732A>C
c.151+6948A>C (n.151+6948A>C)
c.852A>C (n.852A>C)
c.1163A>C (p.Glu388Ala)
c.3629A>C (p.Glu1210Ala)
c.656-582A>C (n.656-582A>C)
c.3560A>C (p.Glu1187Ala)
c.3623A>C (p.Glu1208Ala)
c.3611A>C (p.Glu1204Ala)
2g.144389465C>ACA348698567ZEB2c.*3480G>T (n.*3480G>T)
c.2854G>T (p.Glu952Ter)
c.3631G>T (p.Glu1211Ter)
c.3519G>T (p.Trp1173Cys)
n.3600G>T
c.3295G>T (p.Glu1099Ter)
c.3706G>T (p.Glu1236Ter)
c.*3348G>T (n.*3348G>T)
n.3731G>T
c.151+6947G>T (n.151+6947G>T)
c.851G>T (n.851G>T)
c.1162G>T (p.Glu388Ter)
c.3628G>T (p.Glu1210Ter)
c.656-583G>T (n.656-583G>T)
c.3559G>T (p.Glu1187Ter)
c.3622G>T (p.Glu1208Ter)
c.3610G>T (p.Glu1204Ter)
2g.144389465C>GCA348698568ZEB2c.*3480G>C (n.*3480G>C)
c.2854G>C (p.Glu952Gln)
c.3631G>C (p.Glu1211Gln)
c.3519G>C (p.Trp1173Cys)
n.3600G>C
c.3295G>C (p.Glu1099Gln)
c.3706G>C (p.Glu1236Gln)
c.*3348G>C (n.*3348G>C)
n.3731G>C
c.151+6947G>C (n.151+6947G>C)
c.851G>C (n.851G>C)
c.1162G>C (p.Glu388Gln)
c.3628G>C (p.Glu1210Gln)
c.656-583G>C (n.656-583G>C)
c.3559G>C (p.Glu1187Gln)
c.3622G>C (p.Glu1208Gln)
c.3610G>C (p.Glu1204Gln)
2g.144389465C>TCA348698569ZEB2c.*3480G>A (n.*3480G>A)
c.2854G>A (p.Glu952Lys)
c.3631G>A (p.Glu1211Lys)
c.3519G>A (p.Trp1173Ter)
n.3600G>A
c.3295G>A (p.Glu1099Lys)
c.3706G>A (p.Glu1236Lys)
c.*3348G>A (n.*3348G>A)
n.3731G>A
c.151+6947G>A (n.151+6947G>A)
c.851G>A (n.851G>A)
c.1162G>A (p.Glu388Lys)
c.3628G>A (p.Glu1210Lys)
c.656-583G>A (n.656-583G>A)
c.3559G>A (p.Glu1187Lys)
c.3622G>A (p.Glu1208Lys)
c.3610G>A (p.Glu1204Lys)
2g.144389466C>ACA348698570ZEB2c.*3479G>T (n.*3479G>T)
c.2853G>T (p.Met951Ile)
c.3630G>T (p.Met1210Ile)
c.3518G>T (p.Trp1173Leu)
n.3599G>T
c.3294G>T (p.Met1098Ile)
c.3705G>T (p.Met1235Ile)
c.*3347G>T (n.*3347G>T)
n.3730G>T
c.151+6946G>T (n.151+6946G>T)
c.850G>T (n.850G>T)
c.1161G>T (p.Met387Ile)
c.3627G>T (p.Met1209Ile)
c.656-584G>T (n.656-584G>T)
c.3558G>T (p.Met1186Ile)
c.3621G>T (p.Met1207Ile)
c.3609G>T (p.Met1203Ile)
2g.144389466C>GCA348698571ZEB2c.*3479G>C (n.*3479G>C)
c.2853G>C (p.Met951Ile)
c.3630G>C (p.Met1210Ile)
c.3518G>C (p.Trp1173Ser)
n.3599G>C
c.3294G>C (p.Met1098Ile)
c.3705G>C (p.Met1235Ile)
c.*3347G>C (n.*3347G>C)
n.3730G>C
c.151+6946G>C (n.151+6946G>C)
c.850G>C (n.850G>C)
c.1161G>C (p.Met387Ile)
c.3627G>C (p.Met1209Ile)
c.656-584G>C (n.656-584G>C)
c.3558G>C (p.Met1186Ile)
c.3621G>C (p.Met1207Ile)
c.3609G>C (p.Met1203Ile)
2g.144389466C>TCA348698572ZEB2c.*3479G>A (n.*3479G>A)
c.2853G>A (p.Met951Ile)
c.3630G>A (p.Met1210Ile)
c.3518G>A (p.Trp1173Ter)
n.3599G>A
c.3294G>A (p.Met1098Ile)
c.3705G>A (p.Met1235Ile)
c.*3347G>A (n.*3347G>A)
n.3730G>A
c.151+6946G>A (n.151+6946G>A)
c.850G>A (n.850G>A)
c.1161G>A (p.Met387Ile)
c.3627G>A (p.Met1209Ile)
c.656-584G>A (n.656-584G>A)
c.3558G>A (p.Met1186Ile)
c.3621G>A (p.Met1207Ile)
c.3609G>A (p.Met1203Ile)
2g.144389467A=CA1294881212ZEB2c.*3478T= (n.*3478T=)
c.2852T= (p.Met951=)
c.3629T= (p.Met1210=)
c.3517T= (p.Trp1173=)
n.3598T=
c.3293T= (p.Met1098=)
c.3704T= (p.Met1235=)
c.*3346T= (n.*3346T=)
n.3729T=
c.151+6945T= (n.151+6945T=)
c.849T= (n.849T=)
c.1160T= (p.Met387=)
c.3626T= (p.Met1209=)
c.656-585T= (n.656-585T=)
c.3557T= (p.Met1186=)
c.3620T= (p.Met1207=)
c.3608T= (p.Met1203=)
2g.144389467A>CCA348698573ZEB2c.*3478T>G (n.*3478T>G)
c.2852T>G (p.Met951Arg)
c.3629T>G (p.Met1210Arg)
c.3517T>G (p.Trp1173Gly)
n.3598T>G
c.3293T>G (p.Met1098Arg)
c.3704T>G (p.Met1235Arg)
c.*3346T>G (n.*3346T>G)
n.3729T>G
c.151+6945T>G (n.151+6945T>G)
c.849T>G (n.849T>G)
c.1160T>G (p.Met387Arg)
c.3626T>G (p.Met1209Arg)
c.656-585T>G (n.656-585T>G)
c.3557T>G (p.Met1186Arg)
c.3620T>G (p.Met1207Arg)
c.3608T>G (p.Met1203Arg)
2g.144389467A>GCA348698575ZEB2c.*3478T>C (n.*3478T>C)
c.2852T>C (p.Met951Thr)
c.3629T>C (p.Met1210Thr)
c.3517T>C (p.Trp1173Arg)
n.3598T>C
c.3293T>C (p.Met1098Thr)
c.3704T>C (p.Met1235Thr)
c.*3346T>C (n.*3346T>C)
n.3729T>C
c.151+6945T>C (n.151+6945T>C)
c.849T>C (n.849T>C)
c.1160T>C (p.Met387Thr)
c.3626T>C (p.Met1209Thr)
c.656-585T>C (n.656-585T>C)
c.3557T>C (p.Met1186Thr)
c.3620T>C (p.Met1207Thr)
c.3608T>C (p.Met1203Thr)
dbSNP gnomAD v4
2g.144389467A>TCA348698574ZEB2c.*3478T>A (n.*3478T>A)
c.2852T>A (p.Met951Lys)
c.3629T>A (p.Met1210Lys)
c.3517T>A (p.Trp1173Arg)
n.3598T>A
c.3293T>A (p.Met1098Lys)
c.3704T>A (p.Met1235Lys)
c.*3346T>A (n.*3346T>A)
n.3729T>A
c.151+6945T>A (n.151+6945T>A)
c.849T>A (n.849T>A)
c.1160T>A (p.Met387Lys)
c.3626T>A (p.Met1209Lys)
c.656-585T>A (n.656-585T>A)
c.3557T>A (p.Met1186Lys)
c.3620T>A (p.Met1207Lys)
c.3608T>A (p.Met1203Lys)
2g.144389468T>ACA348698576ZEB2c.*3477A>T (n.*3477A>T)
c.2851A>T (p.Met951Leu)
c.3628A>T (p.Met1210Leu)
c.3516A>T (p.Ile1172=)
n.3597A>T
c.3292A>T (p.Met1098Leu)
c.3703A>T (p.Met1235Leu)
c.*3345A>T (n.*3345A>T)
n.3728A>T
c.151+6944A>T (n.151+6944A>T)
c.848A>T (n.848A>T)
c.1159A>T (p.Met387Leu)
c.3625A>T (p.Met1209Leu)
c.656-586A>T (n.656-586A>T)
c.3556A>T (p.Met1186Leu)
c.3619A>T (p.Met1207Leu)
c.3607A>T (p.Met1203Leu)
2g.144389468T>CCA1898095ZEB2c.*3477A>G (n.*3477A>G)
c.2851A>G (p.Met951Val)
c.3628A>G (p.Met1210Val)
c.3516A>G (p.Ile1172Met)
n.3597A>G
c.3292A>G (p.Met1098Val)
c.3703A>G (p.Met1235Val)
c.*3345A>G (n.*3345A>G)
n.3728A>G
c.151+6944A>G (n.151+6944A>G)
c.848A>G (n.848A>G)
c.1159A>G (p.Met387Val)
c.3625A>G (p.Met1209Val)
c.656-586A>G (n.656-586A>G)
c.3556A>G (p.Met1186Val)
c.3619A>G (p.Met1207Val)
c.3607A>G (p.Met1203Val)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.144389468T>GCA348698577ZEB2c.*3477A>C (n.*3477A>C)
c.2851A>C (p.Met951Leu)
c.3628A>C (p.Met1210Leu)
c.3516A>C (p.Ile1172=)
n.3597A>C
c.3292A>C (p.Met1098Leu)
c.3703A>C (p.Met1235Leu)
c.*3345A>C (n.*3345A>C)
n.3728A>C
c.151+6944A>C (n.151+6944A>C)
c.848A>C (n.848A>C)
c.1159A>C (p.Met387Leu)
c.3625A>C (p.Met1209Leu)
c.656-586A>C (n.656-586A>C)
c.3556A>C (p.Met1186Leu)
c.3619A>C (p.Met1207Leu)
c.3607A>C (p.Met1203Leu)
2g.144389468T=CA1294881213ZEB2c.*3477A= (n.*3477A=)
c.2851A= (p.Met951=)
c.3628A= (p.Met1210=)
c.3516A= (p.Ile1172=)
n.3597A=
c.3292A= (p.Met1098=)
c.3703A= (p.Met1235=)
c.*3345A= (n.*3345A=)
n.3728A=
c.151+6944A= (n.151+6944A=)
c.848A= (n.848A=)
c.1159A= (p.Met387=)
c.3625A= (p.Met1209=)
c.656-586A= (n.656-586A=)
c.3556A= (p.Met1186=)
c.3619A= (p.Met1207=)
c.3607A= (p.Met1203=)
2g.144389469A=CA1294881214ZEB2c.*3476T= (n.*3476T=)
c.2850T= (p.Asn950=)
c.3627T= (p.Asn1209=)
c.3515T= (p.Ile1172=)
n.3596T=
c.3291T= (p.Asn1097=)
c.3702T= (p.Asn1234=)
c.*3344T= (n.*3344T=)
n.3727T=
c.151+6943T= (n.151+6943T=)
c.847T= (n.847T=)
c.1158T= (p.Asn386=)
c.3624T= (p.Asn1208=)
c.656-587T= (n.656-587T=)
c.3555T= (p.Asn1185=)
c.3618T= (p.Asn1206=)
c.3606T= (p.Asn1202=)
2g.144389469A>CCA348698578ZEB2c.*3476T>G (n.*3476T>G)
c.2850T>G (p.Asn950Lys)
c.3627T>G (p.Asn1209Lys)
c.3515T>G (p.Ile1172Arg)
n.3596T>G
c.3291T>G (p.Asn1097Lys)
c.3702T>G (p.Asn1234Lys)
c.*3344T>G (n.*3344T>G)
n.3727T>G
c.151+6943T>G (n.151+6943T>G)
c.847T>G (n.847T>G)
c.1158T>G (p.Asn386Lys)
c.3624T>G (p.Asn1208Lys)
c.656-587T>G (n.656-587T>G)
c.3555T>G (p.Asn1185Lys)
c.3618T>G (p.Asn1206Lys)
c.3606T>G (p.Asn1202Lys)
2g.144389469A>GCA1898096ZEB2c.*3476T>C (n.*3476T>C)
c.2850T>C (p.Asn950=)
c.3627T>C (p.Asn1209=)
c.3515T>C (p.Ile1172Thr)
n.3596T>C
c.3291T>C (p.Asn1097=)
c.3702T>C (p.Asn1234=)
c.*3344T>C (n.*3344T>C)
n.3727T>C
c.151+6943T>C (n.151+6943T>C)
c.847T>C (n.847T>C)
c.1158T>C (p.Asn386=)
c.3624T>C (p.Asn1208=)
c.656-587T>C (n.656-587T>C)
c.3555T>C (p.Asn1185=)
c.3618T>C (p.Asn1206=)
c.3606T>C (p.Asn1202=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.144389469A>TCA348698579ZEB2c.*3476T>A (n.*3476T>A)
c.2850T>A (p.Asn950Lys)
c.3627T>A (p.Asn1209Lys)
c.3515T>A (p.Ile1172Lys)
n.3596T>A
c.3291T>A (p.Asn1097Lys)
c.3702T>A (p.Asn1234Lys)
c.*3344T>A (n.*3344T>A)
n.3727T>A
c.151+6943T>A (n.151+6943T>A)
c.847T>A (n.847T>A)
c.1158T>A (p.Asn386Lys)
c.3624T>A (p.Asn1208Lys)
c.656-587T>A (n.656-587T>A)
c.3555T>A (p.Asn1185Lys)
c.3618T>A (p.Asn1206Lys)
c.3606T>A (p.Asn1202Lys)
2g.144389470T>ACA348698580ZEB2c.*3475A>T (n.*3475A>T)
c.2849A>T (p.Asn950Ile)
c.3626A>T (p.Asn1209Ile)
c.3514A>T (p.Ile1172Leu)
n.3595A>T
c.3290A>T (p.Asn1097Ile)
c.3701A>T (p.Asn1234Ile)
c.*3343A>T (n.*3343A>T)
n.3726A>T
c.151+6942A>T (n.151+6942A>T)
c.846A>T (n.846A>T)
c.1157A>T (p.Asn386Ile)
c.3623A>T (p.Asn1208Ile)
c.656-588A>T (n.656-588A>T)
c.3554A>T (p.Asn1185Ile)
c.3617A>T (p.Asn1206Ile)
c.3605A>T (p.Asn1202Ile)
2g.144389470T>CCA348698581ZEB2c.*3475A>G (n.*3475A>G)
c.2849A>G (p.Asn950Ser)
c.3626A>G (p.Asn1209Ser)
c.3514A>G (p.Ile1172Val)
n.3595A>G
c.3290A>G (p.Asn1097Ser)
c.3701A>G (p.Asn1234Ser)
c.*3343A>G (n.*3343A>G)
n.3726A>G
c.151+6942A>G (n.151+6942A>G)
c.846A>G (n.846A>G)
c.1157A>G (p.Asn386Ser)
c.3623A>G (p.Asn1208Ser)
c.656-588A>G (n.656-588A>G)
c.3554A>G (p.Asn1185Ser)
c.3617A>G (p.Asn1206Ser)
c.3605A>G (p.Asn1202Ser)
dbSNP gnomAD v2 gnomAD v4
2g.144389470T>GCA348698582ZEB2c.*3475A>C (n.*3475A>C)
c.2849A>C (p.Asn950Thr)
c.3626A>C (p.Asn1209Thr)
c.3514A>C (p.Ile1172Leu)
n.3595A>C
c.3290A>C (p.Asn1097Thr)
c.3701A>C (p.Asn1234Thr)
c.*3343A>C (n.*3343A>C)
n.3726A>C
c.151+6942A>C (n.151+6942A>C)
c.846A>C (n.846A>C)
c.1157A>C (p.Asn386Thr)
c.3623A>C (p.Asn1208Thr)
c.656-588A>C (n.656-588A>C)
c.3554A>C (p.Asn1185Thr)
c.3617A>C (p.Asn1206Thr)
c.3605A>C (p.Asn1202Thr)
2g.144389470T=CA1294881215ZEB2c.*3475A= (n.*3475A=)
c.2849A= (p.Asn950=)
c.3626A= (p.Asn1209=)
c.3514A= (p.Ile1172=)
n.3595A=
c.3290A= (p.Asn1097=)
c.3701A= (p.Asn1234=)
c.*3343A= (n.*3343A=)
n.3726A=
c.151+6942A= (n.151+6942A=)
c.846A= (n.846A=)
c.1157A= (p.Asn386=)
c.3623A= (p.Asn1208=)
c.656-588A= (n.656-588A=)
c.3554A= (p.Asn1185=)
c.3617A= (p.Asn1206=)
c.3605A= (p.Asn1202=)
2g.144389471T>ACA348698583ZEB2c.*3474A>T (n.*3474A>T)
c.2848A>T (p.Asn950Tyr)
c.3625A>T (p.Asn1209Tyr)
c.3513A>T (p.Thr1171=)
n.3594A>T
c.3289A>T (p.Asn1097Tyr)
c.3700A>T (p.Asn1234Tyr)
c.*3342A>T (n.*3342A>T)
n.3725A>T
c.151+6941A>T (n.151+6941A>T)
c.845A>T (n.845A>T)
c.1156A>T (p.Asn386Tyr)
c.3622A>T (p.Asn1208Tyr)
c.656-589A>T (n.656-589A>T)
c.3553A>T (p.Asn1185Tyr)
c.3616A>T (p.Asn1206Tyr)
c.3604A>T (p.Asn1202Tyr)
2g.144389471T>CCA348698584ZEB2c.*3474A>G (n.*3474A>G)
c.2848A>G (p.Asn950Asp)
c.3625A>G (p.Asn1209Asp)
c.3513A>G (p.Thr1171=)
n.3594A>G
c.3289A>G (p.Asn1097Asp)
c.3700A>G (p.Asn1234Asp)
c.*3342A>G (n.*3342A>G)
n.3725A>G
c.151+6941A>G (n.151+6941A>G)
c.845A>G (n.845A>G)
c.1156A>G (p.Asn386Asp)
c.3622A>G (p.Asn1208Asp)
c.656-589A>G (n.656-589A>G)
c.3553A>G (p.Asn1185Asp)
c.3616A>G (p.Asn1206Asp)
c.3604A>G (p.Asn1202Asp)
ClinVar dbSNP
2g.144389471T>GCA348698585ZEB2c.*3474A>C (n.*3474A>C)
c.2848A>C (p.Asn950His)
c.3625A>C (p.Asn1209His)
c.3513A>C (p.Thr1171=)
n.3594A>C
c.3289A>C (p.Asn1097His)
c.3700A>C (p.Asn1234His)
c.*3342A>C (n.*3342A>C)
n.3725A>C
c.151+6941A>C (n.151+6941A>C)
c.845A>C (n.845A>C)
c.1156A>C (p.Asn386His)
c.3622A>C (p.Asn1208His)
c.656-589A>C (n.656-589A>C)
c.3553A>C (p.Asn1185His)
c.3616A>C (p.Asn1206His)
c.3604A>C (p.Asn1202His)
2g.144389471T=CA1294881216ZEB2c.*3474A= (n.*3474A=)
c.2848A= (p.Asn950=)
c.3625A= (p.Asn1209=)
c.3513A= (p.Thr1171=)
n.3594A=
c.3289A= (p.Asn1097=)
c.3700A= (p.Asn1234=)
c.*3342A= (n.*3342A=)
n.3725A=
c.151+6941A= (n.151+6941A=)
c.845A= (n.845A=)
c.1156A= (p.Asn386=)
c.3622A= (p.Asn1208=)
c.656-589A= (n.656-589A=)
c.3553A= (p.Asn1185=)
c.3616A= (p.Asn1206=)
c.3604A= (p.Asn1202=)
2g.144389472G>ACA429217448ZEB2c.*3473C>T (n.*3473C>T)
c.2847C>T (p.Asp949=)
c.3624C>T (p.Asp1208=)
c.3512C>T (p.Thr1171Ile)
n.3593C>T
c.3288C>T (p.Asp1096=)
c.3699C>T (p.Asp1233=)
c.*3341C>T (n.*3341C>T)
n.3724C>T
c.151+6940C>T (n.151+6940C>T)
c.844C>T (n.844C>T)
c.1155C>T (p.Asp385=)
c.3621C>T (p.Asp1207=)
c.656-590C>T (n.656-590C>T)
c.3552C>T (p.Asp1184=)
c.3615C>T (p.Asp1205=)
c.3603C>T (p.Asp1201=)
2g.144389472G>CCA348698587ZEB2c.*3473C>G (n.*3473C>G)
c.2847C>G (p.Asp949Glu)
c.3624C>G (p.Asp1208Glu)
c.3512C>G (p.Thr1171Arg)
n.3593C>G
c.3288C>G (p.Asp1096Glu)
c.3699C>G (p.Asp1233Glu)
c.*3341C>G (n.*3341C>G)
n.3724C>G
c.151+6940C>G (n.151+6940C>G)
c.844C>G (n.844C>G)
c.1155C>G (p.Asp385Glu)
c.3621C>G (p.Asp1207Glu)
c.656-590C>G (n.656-590C>G)
c.3552C>G (p.Asp1184Glu)
c.3615C>G (p.Asp1205Glu)
c.3603C>G (p.Asp1201Glu)
2g.144389472G>TCA348698586ZEB2c.*3473C>A (n.*3473C>A)
c.2847C>A (p.Asp949Glu)
c.3624C>A (p.Asp1208Glu)
c.3512C>A (p.Thr1171Lys)
n.3593C>A
c.3288C>A (p.Asp1096Glu)
c.3699C>A (p.Asp1233Glu)
c.*3341C>A (n.*3341C>A)
n.3724C>A
c.151+6940C>A (n.151+6940C>A)
c.844C>A (n.844C>A)
c.1155C>A (p.Asp385Glu)
c.3621C>A (p.Asp1207Glu)
c.656-590C>A (n.656-590C>A)
c.3552C>A (p.Asp1184Glu)
c.3615C>A (p.Asp1205Glu)
c.3603C>A (p.Asp1201Glu)
2g.144389473T>ACA348698588ZEB2c.*3472A>T (n.*3472A>T)
c.2846A>T (p.Asp949Val)
c.3623A>T (p.Asp1208Val)
c.3511A>T (p.Thr1171Ser)
n.3592A>T
c.3287A>T (p.Asp1096Val)
c.3698A>T (p.Asp1233Val)
c.*3340A>T (n.*3340A>T)
n.3723A>T
c.151+6939A>T (n.151+6939A>T)
c.843A>T (n.843A>T)
c.1154A>T (p.Asp385Val)
c.3620A>T (p.Asp1207Val)
c.656-591A>T (n.656-591A>T)
c.3551A>T (p.Asp1184Val)
c.3614A>T (p.Asp1205Val)
c.3602A>T (p.Asp1201Val)
2g.144389473T>CCA348698589ZEB2c.*3472A>G (n.*3472A>G)
c.2846A>G (p.Asp949Gly)
c.3623A>G (p.Asp1208Gly)
c.3511A>G (p.Thr1171Ala)
n.3592A>G
c.3287A>G (p.Asp1096Gly)
c.3698A>G (p.Asp1233Gly)
c.*3340A>G (n.*3340A>G)
n.3723A>G
c.151+6939A>G (n.151+6939A>G)
c.843A>G (n.843A>G)
c.1154A>G (p.Asp385Gly)
c.3620A>G (p.Asp1207Gly)
c.656-591A>G (n.656-591A>G)
c.3551A>G (p.Asp1184Gly)
c.3614A>G (p.Asp1205Gly)
c.3602A>G (p.Asp1201Gly)
2g.144389473T>GCA348698590ZEB2c.*3472A>C (n.*3472A>C)
c.2846A>C (p.Asp949Ala)
c.3623A>C (p.Asp1208Ala)
c.3511A>C (p.Thr1171Pro)
n.3592A>C
c.3287A>C (p.Asp1096Ala)
c.3698A>C (p.Asp1233Ala)
c.*3340A>C (n.*3340A>C)
n.3723A>C
c.151+6939A>C (n.151+6939A>C)
c.843A>C (n.843A>C)
c.1154A>C (p.Asp385Ala)
c.3620A>C (p.Asp1207Ala)
c.656-591A>C (n.656-591A>C)
c.3551A>C (p.Asp1184Ala)
c.3614A>C (p.Asp1205Ala)
c.3602A>C (p.Asp1201Ala)
2g.144389474C>ACA348698591ZEB2c.*3471G>T (n.*3471G>T)
c.2845G>T (p.Asp949Tyr)
c.3622G>T (p.Asp1208Tyr)
c.3510G>T (p.Lys1170Asn)
n.3591G>T
c.3286G>T (p.Asp1096Tyr)
c.3697G>T (p.Asp1233Tyr)
c.*3339G>T (n.*3339G>T)
n.3722G>T
c.151+6938G>T (n.151+6938G>T)
c.842G>T (n.842G>T)
c.1153G>T (p.Asp385Tyr)
c.3619G>T (p.Asp1207Tyr)
c.656-592G>T (n.656-592G>T)
c.3550G>T (p.Asp1184Tyr)
c.3613G>T (p.Asp1205Tyr)
c.3601G>T (p.Asp1201Tyr)
2g.144389474C>GCA348698592ZEB2c.*3471G>C (n.*3471G>C)
c.2845G>C (p.Asp949His)
c.3622G>C (p.Asp1208His)
c.3510G>C (p.Lys1170Asn)
n.3591G>C
c.3286G>C (p.Asp1096His)
c.3697G>C (p.Asp1233His)
c.*3339G>C (n.*3339G>C)
n.3722G>C
c.151+6938G>C (n.151+6938G>C)
c.842G>C (n.842G>C)
c.1153G>C (p.Asp385His)
c.3619G>C (p.Asp1207His)
c.656-592G>C (n.656-592G>C)
c.3550G>C (p.Asp1184His)
c.3613G>C (p.Asp1205His)
c.3601G>C (p.Asp1201His)
2g.144389474C>TCA348698593ZEB2c.*3471G>A (n.*3471G>A)
c.2845G>A (p.Asp949Asn)
c.3622G>A (p.Asp1208Asn)
c.3510G>A (p.Lys1170=)
n.3591G>A
c.3286G>A (p.Asp1096Asn)
c.3697G>A (p.Asp1233Asn)
c.*3339G>A (n.*3339G>A)
n.3722G>A
c.151+6938G>A (n.151+6938G>A)
c.842G>A (n.842G>A)
c.1153G>A (p.Asp385Asn)
c.3619G>A (p.Asp1207Asn)
c.656-592G>A (n.656-592G>A)
c.3550G>A (p.Asp1184Asn)
c.3613G>A (p.Asp1205Asn)
c.3601G>A (p.Asp1201Asn)
gnomAD v4
2g.144389475T>ACA348698594ZEB2c.*3470A>T (n.*3470A>T)
c.2844A>T (p.Glu948Asp)
c.3621A>T (p.Glu1207Asp)
c.3509A>T (p.Lys1170Met)
n.3590A>T
c.3285A>T (p.Glu1095Asp)
c.3696A>T (p.Glu1232Asp)
c.*3338A>T (n.*3338A>T)
n.3721A>T
c.151+6937A>T (n.151+6937A>T)
c.841A>T (n.841A>T)
c.1152A>T (p.Glu384Asp)
c.3618A>T (p.Glu1206Asp)
c.656-593A>T (n.656-593A>T)
c.3549A>T (p.Glu1183Asp)
c.3612A>T (p.Glu1204Asp)
c.3600A>T (p.Glu1200Asp)
2g.144389475T>CCA429217450ZEB2c.*3470A>G (n.*3470A>G)
c.2844A>G (p.Glu948=)
c.3621A>G (p.Glu1207=)
c.3509A>G (p.Lys1170Arg)
n.3590A>G
c.3285A>G (p.Glu1095=)
c.3696A>G (p.Glu1232=)
c.*3338A>G (n.*3338A>G)
n.3721A>G
c.151+6937A>G (n.151+6937A>G)
c.841A>G (n.841A>G)
c.1152A>G (p.Glu384=)
c.3618A>G (p.Glu1206=)
c.656-593A>G (n.656-593A>G)
c.3549A>G (p.Glu1183=)
c.3612A>G (p.Glu1204=)
c.3600A>G (p.Glu1200=)
2g.144389475T>GCA348698595ZEB2c.*3470A>C (n.*3470A>C)
c.2844A>C (p.Glu948Asp)
c.3621A>C (p.Glu1207Asp)
c.3509A>C (p.Lys1170Thr)
n.3590A>C
c.3285A>C (p.Glu1095Asp)
c.3696A>C (p.Glu1232Asp)
c.*3338A>C (n.*3338A>C)
n.3721A>C
c.151+6937A>C (n.151+6937A>C)
c.841A>C (n.841A>C)
c.1152A>C (p.Glu384Asp)
c.3618A>C (p.Glu1206Asp)
c.656-593A>C (n.656-593A>C)
c.3549A>C (p.Glu1183Asp)
c.3612A>C (p.Glu1204Asp)
c.3600A>C (p.Glu1200Asp)
2g.144389476T>ACA348698596ZEB2c.*3469A>T (n.*3469A>T)
c.2843A>T (p.Glu948Val)
c.3620A>T (p.Glu1207Val)
c.3508A>T (p.Lys1170Ter)
n.3589A>T
c.3284A>T (p.Glu1095Val)
c.3695A>T (p.Glu1232Val)
c.*3337A>T (n.*3337A>T)
n.3720A>T
c.151+6936A>T (n.151+6936A>T)
c.840A>T (n.840A>T)
c.1151A>T (p.Glu384Val)
c.3617A>T (p.Glu1206Val)
c.656-594A>T (n.656-594A>T)
c.3548A>T (p.Glu1183Val)
c.3611A>T (p.Glu1204Val)
c.3599A>T (p.Glu1200Val)
2g.144389476T>CCA348698597ZEB2c.*3469A>G (n.*3469A>G)
c.2843A>G (p.Glu948Gly)
c.3620A>G (p.Glu1207Gly)
c.3508A>G (p.Lys1170Glu)
n.3589A>G
c.3284A>G (p.Glu1095Gly)
c.3695A>G (p.Glu1232Gly)
c.*3337A>G (n.*3337A>G)
n.3720A>G
c.151+6936A>G (n.151+6936A>G)
c.840A>G (n.840A>G)
c.1151A>G (p.Glu384Gly)
c.3617A>G (p.Glu1206Gly)
c.656-594A>G (n.656-594A>G)
c.3548A>G (p.Glu1183Gly)
c.3611A>G (p.Glu1204Gly)
c.3599A>G (p.Glu1200Gly)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.144389476T>GCA348698598ZEB2c.*3469A>C (n.*3469A>C)
c.2843A>C (p.Glu948Ala)
c.3620A>C (p.Glu1207Ala)
c.3508A>C (p.Lys1170Gln)
n.3589A>C
c.3284A>C (p.Glu1095Ala)
c.3695A>C (p.Glu1232Ala)
c.*3337A>C (n.*3337A>C)
n.3720A>C
c.151+6936A>C (n.151+6936A>C)
c.840A>C (n.840A>C)
c.1151A>C (p.Glu384Ala)
c.3617A>C (p.Glu1206Ala)
c.656-594A>C (n.656-594A>C)
c.3548A>C (p.Glu1183Ala)
c.3611A>C (p.Glu1204Ala)
c.3599A>C (p.Glu1200Ala)
2g.144389476T=CA1294881217ZEB2c.*3469A= (n.*3469A=)
c.2843A= (p.Glu948=)
c.3620A= (p.Glu1207=)
c.3508A= (p.Lys1170=)
n.3589A=
c.3284A= (p.Glu1095=)
c.3695A= (p.Glu1232=)
c.*3337A= (n.*3337A=)
n.3720A=
c.151+6936A= (n.151+6936A=)
c.840A= (n.840A=)
c.1151A= (p.Glu384=)
c.3617A= (p.Glu1206=)
c.656-594A= (n.656-594A=)
c.3548A= (p.Glu1183=)
c.3611A= (p.Glu1204=)
c.3599A= (p.Glu1200=)
2g.144389477C>ACA348698601ZEB2c.*3468G>T (n.*3468G>T)
c.2842G>T (p.Glu948Ter)
c.3619G>T (p.Glu1207Ter)
c.3507G>T (p.Arg1169Ser)
n.3588G>T
c.3283G>T (p.Glu1095Ter)
c.3694G>T (p.Glu1232Ter)
c.*3336G>T (n.*3336G>T)
n.3719G>T
c.151+6935G>T (n.151+6935G>T)
c.839G>T (n.839G>T)
c.1150G>T (p.Glu384Ter)
c.3616G>T (p.Glu1206Ter)
c.656-595G>T (n.656-595G>T)
c.3547G>T (p.Glu1183Ter)
c.3610G>T (p.Glu1204Ter)
c.3598G>T (p.Glu1200Ter)
2g.144389477C=CA1294881218ZEB2c.*3468G= (n.*3468G=)
c.2842G= (p.Glu948=)
c.3619G= (p.Glu1207=)
c.3507G= (p.Arg1169=)
n.3588G=
c.3283G= (p.Glu1095=)
c.3694G= (p.Glu1232=)
c.*3336G= (n.*3336G=)
n.3719G=
c.151+6935G= (n.151+6935G=)
c.839G= (n.839G=)
c.1150G= (p.Glu384=)
c.3616G= (p.Glu1206=)
c.656-595G= (n.656-595G=)
c.3547G= (p.Glu1183=)
c.3610G= (p.Glu1204=)
c.3598G= (p.Glu1200=)
2g.144389477C>GCA348698600ZEB2c.*3468G>C (n.*3468G>C)
c.2842G>C (p.Glu948Gln)
c.3619G>C (p.Glu1207Gln)
c.3507G>C (p.Arg1169Ser)
n.3588G>C
c.3283G>C (p.Glu1095Gln)
c.3694G>C (p.Glu1232Gln)
c.*3336G>C (n.*3336G>C)
n.3719G>C
c.151+6935G>C (n.151+6935G>C)
c.839G>C (n.839G>C)
c.1150G>C (p.Glu384Gln)
c.3616G>C (p.Glu1206Gln)
c.656-595G>C (n.656-595G>C)
c.3547G>C (p.Glu1183Gln)
c.3610G>C (p.Glu1204Gln)
c.3598G>C (p.Glu1200Gln)
2g.144389477C>TCA348698599ZEB2c.*3468G>A (n.*3468G>A)
c.2842G>A (p.Glu948Lys)
c.3619G>A (p.Glu1207Lys)
c.3507G>A (p.Arg1169=)
n.3588G>A
c.3283G>A (p.Glu1095Lys)
c.3694G>A (p.Glu1232Lys)
c.*3336G>A (n.*3336G>A)
n.3719G>A
c.151+6935G>A (n.151+6935G>A)
c.839G>A (n.839G>A)
c.1150G>A (p.Glu384Lys)
c.3616G>A (p.Glu1206Lys)
c.656-595G>A (n.656-595G>A)
c.3547G>A (p.Glu1183Lys)
c.3610G>A (p.Glu1204Lys)
c.3598G>A (p.Glu1200Lys)
dbSNP gnomAD v3 gnomAD v4
2g.144389478C>ACA348698602ZEB2c.*3467G>T (n.*3467G>T)
c.2841G>T (p.Glu947Asp)
c.3618G>T (p.Glu1206Asp)
c.3506G>T (p.Arg1169Met)
n.3587G>T
c.3282G>T (p.Glu1094Asp)
c.3693G>T (p.Glu1231Asp)
c.*3335G>T (n.*3335G>T)
n.3718G>T
c.151+6934G>T (n.151+6934G>T)
c.838G>T (n.838G>T)
c.1149G>T (p.Glu383Asp)
c.3615G>T (p.Glu1205Asp)
c.656-596G>T (n.656-596G>T)
c.3546G>T (p.Glu1182Asp)
c.3609G>T (p.Glu1203Asp)
c.3597G>T (p.Glu1199Asp)
2g.144389478C>GCA348698603ZEB2c.*3467G>C (n.*3467G>C)
c.2841G>C (p.Glu947Asp)
c.3618G>C (p.Glu1206Asp)
c.3506G>C (p.Arg1169Thr)
n.3587G>C
c.3282G>C (p.Glu1094Asp)
c.3693G>C (p.Glu1231Asp)
c.*3335G>C (n.*3335G>C)
n.3718G>C
c.151+6934G>C (n.151+6934G>C)
c.838G>C (n.838G>C)
c.1149G>C (p.Glu383Asp)
c.3615G>C (p.Glu1205Asp)
c.656-596G>C (n.656-596G>C)
c.3546G>C (p.Glu1182Asp)
c.3609G>C (p.Glu1203Asp)
c.3597G>C (p.Glu1199Asp)
2g.144389478C>TCA429217451ZEB2c.*3467G>A (n.*3467G>A)
c.2841G>A (p.Glu947=)
c.3618G>A (p.Glu1206=)
c.3506G>A (p.Arg1169Lys)
n.3587G>A
c.3282G>A (p.Glu1094=)
c.3693G>A (p.Glu1231=)
c.*3335G>A (n.*3335G>A)
n.3718G>A
c.151+6934G>A (n.151+6934G>A)
c.838G>A (n.838G>A)
c.1149G>A (p.Glu383=)
c.3615G>A (p.Glu1205=)
c.656-596G>A (n.656-596G>A)
c.3546G>A (p.Glu1182=)
c.3609G>A (p.Glu1203=)
c.3597G>A (p.Glu1199=)
2g.144389479T>ACA348698604ZEB2c.*3466A>T (n.*3466A>T)
c.2840A>T (p.Glu947Val)
c.3617A>T (p.Glu1206Val)
c.3505A>T (p.Arg1169Trp)
n.3586A>T
c.3281A>T (p.Glu1094Val)
c.3692A>T (p.Glu1231Val)
c.*3334A>T (n.*3334A>T)
n.3717A>T
c.151+6933A>T (n.151+6933A>T)
c.837A>T (n.837A>T)
c.1148A>T (p.Glu383Val)
c.3614A>T (p.Glu1205Val)
c.656-597A>T (n.656-597A>T)
c.3545A>T (p.Glu1182Val)
c.3608A>T (p.Glu1203Val)
c.3596A>T (p.Glu1199Val)
2g.144389479T>CCA348698605ZEB2c.*3466A>G (n.*3466A>G)
c.2840A>G (p.Glu947Gly)
c.3617A>G (p.Glu1206Gly)
c.3505A>G (p.Arg1169Gly)
n.3586A>G
c.3281A>G (p.Glu1094Gly)
c.3692A>G (p.Glu1231Gly)
c.*3334A>G (n.*3334A>G)
n.3717A>G
c.151+6933A>G (n.151+6933A>G)
c.837A>G (n.837A>G)
c.1148A>G (p.Glu383Gly)
c.3614A>G (p.Glu1205Gly)
c.656-597A>G (n.656-597A>G)
c.3545A>G (p.Glu1182Gly)
c.3608A>G (p.Glu1203Gly)
c.3596A>G (p.Glu1199Gly)
2g.144389479T>GCA348698606ZEB2c.*3466A>C (n.*3466A>C)
c.2840A>C (p.Glu947Ala)
c.3617A>C (p.Glu1206Ala)
c.3505A>C (p.Arg1169=)
n.3586A>C
c.3281A>C (p.Glu1094Ala)
c.3692A>C (p.Glu1231Ala)
c.*3334A>C (n.*3334A>C)
n.3717A>C
c.151+6933A>C (n.151+6933A>C)
c.837A>C (n.837A>C)
c.1148A>C (p.Glu383Ala)
c.3614A>C (p.Glu1205Ala)
c.656-597A>C (n.656-597A>C)
c.3545A>C (p.Glu1182Ala)
c.3608A>C (p.Glu1203Ala)
c.3596A>C (p.Glu1199Ala)
2g.144389480C>ACA348698607ZEB2c.*3465G>T (n.*3465G>T)
c.2839G>T (p.Glu947Ter)
c.3616G>T (p.Glu1206Ter)
c.3504G>T (p.Thr1168=)
n.3585G>T
c.3280G>T (p.Glu1094Ter)
c.3691G>T (p.Glu1231Ter)
c.*3333G>T (n.*3333G>T)
n.3716G>T
c.151+6932G>T (n.151+6932G>T)
c.836G>T (n.836G>T)
c.1147G>T (p.Glu383Ter)
c.3613G>T (p.Glu1205Ter)
c.656-598G>T (n.656-598G>T)
c.3544G>T (p.Glu1182Ter)
c.3607G>T (p.Glu1203Ter)
c.3595G>T (p.Glu1199Ter)
2g.144389480C=CA1294881219ZEB2c.*3465G= (n.*3465G=)
c.2839G= (p.Glu947=)
c.3616G= (p.Glu1206=)
c.3504G= (p.Thr1168=)
n.3585G=
c.3280G= (p.Glu1094=)
c.3691G= (p.Glu1231=)
c.*3333G= (n.*3333G=)
n.3716G=
c.151+6932G= (n.151+6932G=)
c.836G= (n.836G=)
c.1147G= (p.Glu383=)
c.3613G= (p.Glu1205=)
c.656-598G= (n.656-598G=)
c.3544G= (p.Glu1182=)
c.3607G= (p.Glu1203=)
c.3595G= (p.Glu1199=)
2g.144389480C>GCA348698608ZEB2c.*3465G>C (n.*3465G>C)
c.2839G>C (p.Glu947Gln)
c.3616G>C (p.Glu1206Gln)
c.3504G>C (p.Thr1168=)
n.3585G>C
c.3280G>C (p.Glu1094Gln)
c.3691G>C (p.Glu1231Gln)
c.*3333G>C (n.*3333G>C)
n.3716G>C
c.151+6932G>C (n.151+6932G>C)
c.836G>C (n.836G>C)
c.1147G>C (p.Glu383Gln)
c.3613G>C (p.Glu1205Gln)
c.656-598G>C (n.656-598G>C)
c.3544G>C (p.Glu1182Gln)
c.3607G>C (p.Glu1203Gln)
c.3595G>C (p.Glu1199Gln)
2g.144389480C>TCA348698609ZEB2c.*3465G>A (n.*3465G>A)
c.2839G>A (p.Glu947Lys)
c.3616G>A (p.Glu1206Lys)
c.3504G>A (p.Thr1168=)
n.3585G>A
c.3280G>A (p.Glu1094Lys)
c.3691G>A (p.Glu1231Lys)
c.*3333G>A (n.*3333G>A)
n.3716G>A
c.151+6932G>A (n.151+6932G>A)
c.836G>A (n.836G>A)
c.1147G>A (p.Glu383Lys)
c.3613G>A (p.Glu1205Lys)
c.656-598G>A (n.656-598G>A)
c.3544G>A (p.Glu1182Lys)
c.3607G>A (p.Glu1203Lys)
c.3595G>A (p.Glu1199Lys)
dbSNP gnomAD v4
2g.144389481G>ACA429217453ZEB2c.*3464C>T (n.*3464C>T)
c.2838C>T (p.His946=)
c.3615C>T (p.His1205=)
c.3503C>T (p.Thr1168Met)
n.3584C>T
c.3279C>T (p.His1093=)
c.3690C>T (p.His1230=)
c.*3332C>T (n.*3332C>T)
n.3715C>T
c.151+6931C>T (n.151+6931C>T)
c.835C>T (n.835C>T)
c.1146C>T (p.His382=)
c.3612C>T (p.His1204=)
c.656-599C>T (n.656-599C>T)
c.3543C>T (p.His1181=)
c.3606C>T (p.His1202=)
c.3594C>T (p.His1198=)
dbSNP gnomAD v4
2g.144389481G>CCA348698610ZEB2c.*3464C>G (n.*3464C>G)
c.2838C>G (p.His946Gln)
c.3615C>G (p.His1205Gln)
c.3503C>G (p.Thr1168Arg)
n.3584C>G
c.3279C>G (p.His1093Gln)
c.3690C>G (p.His1230Gln)
c.*3332C>G (n.*3332C>G)
n.3715C>G
c.151+6931C>G (n.151+6931C>G)
c.835C>G (n.835C>G)
c.1146C>G (p.His382Gln)
c.3612C>G (p.His1204Gln)
c.656-599C>G (n.656-599C>G)
c.3543C>G (p.His1181Gln)
c.3606C>G (p.His1202Gln)
c.3594C>G (p.His1198Gln)
2g.144389481G=CA1294881220ZEB2c.*3464C= (n.*3464C=)
c.2838C= (p.His946=)
c.3615C= (p.His1205=)
c.3503C= (p.Thr1168=)
n.3584C=
c.3279C= (p.His1093=)
c.3690C= (p.His1230=)
c.*3332C= (n.*3332C=)
n.3715C=
c.151+6931C= (n.151+6931C=)
c.835C= (n.835C=)
c.1146C= (p.His382=)
c.3612C= (p.His1204=)
c.656-599C= (n.656-599C=)
c.3543C= (p.His1181=)
c.3606C= (p.His1202=)
c.3594C= (p.His1198=)
2g.144389481G>TCA348698611ZEB2c.*3464C>A (n.*3464C>A)
c.2838C>A (p.His946Gln)
c.3615C>A (p.His1205Gln)
c.3503C>A (p.Thr1168Lys)
n.3584C>A
c.3279C>A (p.His1093Gln)
c.3690C>A (p.His1230Gln)
c.*3332C>A (n.*3332C>A)
n.3715C>A
c.151+6931C>A (n.151+6931C>A)
c.835C>A (n.835C>A)
c.1146C>A (p.His382Gln)
c.3612C>A (p.His1204Gln)
c.656-599C>A (n.656-599C>A)
c.3543C>A (p.His1181Gln)
c.3606C>A (p.His1202Gln)
c.3594C>A (p.His1198Gln)
2g.144389482T>ACA348698612ZEB2c.*3463A>T (n.*3463A>T)
c.2837A>T (p.His946Leu)
c.3614A>T (p.His1205Leu)
c.3502A>T (p.Thr1168Ser)
n.3583A>T
c.3278A>T (p.His1093Leu)
c.3689A>T (p.His1230Leu)
c.*3331A>T (n.*3331A>T)
n.3714A>T
c.151+6930A>T (n.151+6930A>T)
c.834A>T (n.834A>T)
c.1145A>T (p.His382Leu)
c.3611A>T (p.His1204Leu)
c.656-600A>T (n.656-600A>T)
c.3542A>T (p.His1181Leu)
c.3605A>T (p.His1202Leu)
c.3593A>T (p.His1198Leu)
2g.144389482T>CCA348698613ZEB2c.*3463A>G (n.*3463A>G)
c.2837A>G (p.His946Arg)
c.3614A>G (p.His1205Arg)
c.3502A>G (p.Thr1168Ala)
n.3583A>G
c.3278A>G (p.His1093Arg)
c.3689A>G (p.His1230Arg)
c.*3331A>G (n.*3331A>G)
n.3714A>G
c.151+6930A>G (n.151+6930A>G)
c.834A>G (n.834A>G)
c.1145A>G (p.His382Arg)
c.3611A>G (p.His1204Arg)
c.656-600A>G (n.656-600A>G)
c.3542A>G (p.His1181Arg)
c.3605A>G (p.His1202Arg)
c.3593A>G (p.His1198Arg)
ClinVar dbSNP gnomAD v3 gnomAD v4
2g.144389482T>GCA348698614ZEB2c.*3463A>C (n.*3463A>C)
c.2837A>C (p.His946Pro)
c.3614A>C (p.His1205Pro)
c.3502A>C (p.Thr1168Pro)
n.3583A>C
c.3278A>C (p.His1093Pro)
c.3689A>C (p.His1230Pro)
c.*3331A>C (n.*3331A>C)
n.3714A>C
c.151+6930A>C (n.151+6930A>C)
c.834A>C (n.834A>C)
c.1145A>C (p.His382Pro)
c.3611A>C (p.His1204Pro)
c.656-600A>C (n.656-600A>C)
c.3542A>C (p.His1181Pro)
c.3605A>C (p.His1202Pro)
c.3593A>C (p.His1198Pro)
2g.144389482T=CA1294881221ZEB2c.*3463A= (n.*3463A=)
c.2837A= (p.His946=)
c.3614A= (p.His1205=)
c.3502A= (p.Thr1168=)
n.3583A=
c.3278A= (p.His1093=)
c.3689A= (p.His1230=)
c.*3331A= (n.*3331A=)
n.3714A=
c.151+6930A= (n.151+6930A=)
c.834A= (n.834A=)
c.1145A= (p.His382=)
c.3611A= (p.His1204=)
c.656-600A= (n.656-600A=)
c.3542A= (p.His1181=)
c.3605A= (p.His1202=)
c.3593A= (p.His1198=)
2g.144389484_144389488delCA2586969973ZEB2c.*3459_*3463del (n.*3459_*3463del)
c.2833_2837del (p.Asp945ArgfsTer30)
c.3610_3614del (p.Asp1204ArgfsTer30)
c.3498_3502del (p.Gln1166HisfsTer11)
n.3579_3583del
c.3274_3278del (p.Asp1092ArgfsTer30)
c.3685_3689del (p.Asp1229ArgfsTer30)
c.*3327_*3331del (n.*3327_*3331del)
n.3710_3714del
c.151+6926_151+6930del (n.151+6926_151+6930del)
c.830_834del (n.830_834del)
c.1141_1145del (p.Asp381ArgfsTer30)
c.3607_3611del (p.Asp1203ArgfsTer30)
c.656-604_656-600del (n.656-604_656-600del)
c.3538_3542del (p.Asp1180ArgfsTer30)
c.3601_3605del (p.Asp1201ArgfsTer30)
c.3589_3593del (p.Asp1197ArgfsTer30)
2g.144389483G>ACA348698617ZEB2c.*3462C>T (n.*3462C>T)
c.2836C>T (p.His946Tyr)
c.3613C>T (p.His1205Tyr)
c.3501C>T (p.Thr1167=)
n.3582C>T
c.3277C>T (p.His1093Tyr)
c.3688C>T (p.His1230Tyr)
c.*3330C>T (n.*3330C>T)
n.3713C>T
c.151+6929C>T (n.151+6929C>T)
c.833C>T (n.833C>T)
c.1144C>T (p.His382Tyr)
c.3610C>T (p.His1204Tyr)
c.656-601C>T (n.656-601C>T)
c.3541C>T (p.His1181Tyr)
c.3604C>T (p.His1202Tyr)
c.3592C>T (p.His1198Tyr)
2g.144389483G>CCA348698615ZEB2c.*3462C>G (n.*3462C>G)
c.2836C>G (p.His946Asp)
c.3613C>G (p.His1205Asp)
c.3501C>G (p.Thr1167=)
n.3582C>G
c.3277C>G (p.His1093Asp)
c.3688C>G (p.His1230Asp)
c.*3330C>G (n.*3330C>G)
n.3713C>G
c.151+6929C>G (n.151+6929C>G)
c.833C>G (n.833C>G)
c.1144C>G (p.His382Asp)
c.3610C>G (p.His1204Asp)
c.656-601C>G (n.656-601C>G)
c.3541C>G (p.His1181Asp)
c.3604C>G (p.His1202Asp)
c.3592C>G (p.His1198Asp)
2g.144389483G>TCA348698616ZEB2c.*3462C>A (n.*3462C>A)
c.2836C>A (p.His946Asn)
c.3613C>A (p.His1205Asn)
c.3501C>A (p.Thr1167=)
n.3582C>A
c.3277C>A (p.His1093Asn)
c.3688C>A (p.His1230Asn)
c.*3330C>A (n.*3330C>A)
n.3713C>A
c.151+6929C>A (n.151+6929C>A)
c.833C>A (n.833C>A)
c.1144C>A (p.His382Asn)
c.3610C>A (p.His1204Asn)
c.656-601C>A (n.656-601C>A)
c.3541C>A (p.His1181Asn)
c.3604C>A (p.His1202Asn)
c.3592C>A (p.His1198Asn)
2g.144389484G>ACA429217454ZEB2c.*3461C>T (n.*3461C>T)
c.2835C>T (p.Asp945=)
c.3612C>T (p.Asp1204=)
c.3500C>T (p.Thr1167Ile)
n.3581C>T
c.3276C>T (p.Asp1092=)
c.3687C>T (p.Asp1229=)
c.*3329C>T (n.*3329C>T)
n.3712C>T
c.151+6928C>T (n.151+6928C>T)
c.832C>T (n.832C>T)
c.1143C>T (p.Asp381=)
c.3609C>T (p.Asp1203=)
c.656-602C>T (n.656-602C>T)
c.3540C>T (p.Asp1180=)
c.3603C>T (p.Asp1201=)
c.3591C>T (p.Asp1197=)
gnomAD v4
2g.144389484G>CCA348698618ZEB2c.*3461C>G (n.*3461C>G)
c.2835C>G (p.Asp945Glu)
c.3612C>G (p.Asp1204Glu)
c.3500C>G (p.Thr1167Ser)
n.3581C>G
c.3276C>G (p.Asp1092Glu)
c.3687C>G (p.Asp1229Glu)
c.*3329C>G (n.*3329C>G)
n.3712C>G
c.151+6928C>G (n.151+6928C>G)
c.832C>G (n.832C>G)
c.1143C>G (p.Asp381Glu)
c.3609C>G (p.Asp1203Glu)
c.656-602C>G (n.656-602C>G)
c.3540C>G (p.Asp1180Glu)
c.3603C>G (p.Asp1201Glu)
c.3591C>G (p.Asp1197Glu)
2g.144389484G=CA1294881222ZEB2c.*3461C= (n.*3461C=)
c.2835C= (p.Asp945=)
c.3612C= (p.Asp1204=)
c.3500C= (p.Thr1167=)
n.3581C=
c.3276C= (p.Asp1092=)
c.3687C= (p.Asp1229=)
c.*3329C= (n.*3329C=)
n.3712C=
c.151+6928C= (n.151+6928C=)
c.832C= (n.832C=)
c.1143C= (p.Asp381=)
c.3609C= (p.Asp1203=)
c.656-602C= (n.656-602C=)
c.3540C= (p.Asp1180=)
c.3603C= (p.Asp1201=)
c.3591C= (p.Asp1197=)
2g.144389484G>TCA348698619ZEB2c.*3461C>A (n.*3461C>A)
c.2835C>A (p.Asp945Glu)
c.3612C>A (p.Asp1204Glu)
c.3500C>A (p.Thr1167Asn)
n.3581C>A
c.3276C>A (p.Asp1092Glu)
c.3687C>A (p.Asp1229Glu)
c.*3329C>A (n.*3329C>A)
n.3712C>A
c.151+6928C>A (n.151+6928C>A)
c.832C>A (n.832C>A)
c.1143C>A (p.Asp381Glu)
c.3609C>A (p.Asp1203Glu)
c.656-602C>A (n.656-602C>A)
c.3540C>A (p.Asp1180Glu)
c.3603C>A (p.Asp1201Glu)
c.3591C>A (p.Asp1197Glu)
dbSNP gnomAD v2 gnomAD v4
2g.144389485T>ACA348698620ZEB2c.*3460A>T (n.*3460A>T)
c.2834A>T (p.Asp945Val)
c.3611A>T (p.Asp1204Val)
c.3499A>T (p.Thr1167Ser)
n.3580A>T
c.3275A>T (p.Asp1092Val)
c.3686A>T (p.Asp1229Val)
c.*3328A>T (n.*3328A>T)
n.3711A>T
c.151+6927A>T (n.151+6927A>T)
c.831A>T (n.831A>T)
c.1142A>T (p.Asp381Val)
c.3608A>T (p.Asp1203Val)
c.656-603A>T (n.656-603A>T)
c.3539A>T (p.Asp1180Val)
c.3602A>T (p.Asp1201Val)
c.3590A>T (p.Asp1197Val)
gnomAD v4
2g.144389485T>CCA348698621ZEB2c.*3460A>G (n.*3460A>G)
c.2834A>G (p.Asp945Gly)
c.3611A>G (p.Asp1204Gly)
c.3499A>G (p.Thr1167Ala)
n.3580A>G
c.3275A>G (p.Asp1092Gly)
c.3686A>G (p.Asp1229Gly)
c.*3328A>G (n.*3328A>G)
n.3711A>G
c.151+6927A>G (n.151+6927A>G)
c.831A>G (n.831A>G)
c.1142A>G (p.Asp381Gly)
c.3608A>G (p.Asp1203Gly)
c.656-603A>G (n.656-603A>G)
c.3539A>G (p.Asp1180Gly)
c.3602A>G (p.Asp1201Gly)
c.3590A>G (p.Asp1197Gly)
2g.144389485T>GCA348698622ZEB2c.*3460A>C (n.*3460A>C)
c.2834A>C (p.Asp945Ala)
c.3611A>C (p.Asp1204Ala)
c.3499A>C (p.Thr1167Pro)
n.3580A>C
c.3275A>C (p.Asp1092Ala)
c.3686A>C (p.Asp1229Ala)
c.*3328A>C (n.*3328A>C)
n.3711A>C
c.151+6927A>C (n.151+6927A>C)
c.831A>C (n.831A>C)
c.1142A>C (p.Asp381Ala)
c.3608A>C (p.Asp1203Ala)
c.656-603A>C (n.656-603A>C)
c.3539A>C (p.Asp1180Ala)
c.3602A>C (p.Asp1201Ala)
c.3590A>C (p.Asp1197Ala)
2g.144389486C>ACA348698623ZEB2c.*3459G>T (n.*3459G>T)
c.2833G>T (p.Asp945Tyr)
c.3610G>T (p.Asp1204Tyr)
c.3498G>T (p.Gln1166His)
n.3579G>T
c.3274G>T (p.Asp1092Tyr)
c.3685G>T (p.Asp1229Tyr)
c.*3327G>T (n.*3327G>T)
n.3710G>T
c.151+6926G>T (n.151+6926G>T)
c.830G>T (n.830G>T)
c.1141G>T (p.Asp381Tyr)
c.3607G>T (p.Asp1203Tyr)
c.656-604G>T (n.656-604G>T)
c.3538G>T (p.Asp1180Tyr)
c.3601G>T (p.Asp1201Tyr)
c.3589G>T (p.Asp1197Tyr)
2g.144389486C=CA1294881223ZEB2c.*3459G= (n.*3459G=)
c.2833G= (p.Asp945=)
c.3610G= (p.Asp1204=)
c.3498G= (p.Gln1166=)
n.3579G=
c.3274G= (p.Asp1092=)
c.3685G= (p.Asp1229=)
c.*3327G= (n.*3327G=)
n.3710G=
c.151+6926G= (n.151+6926G=)
c.830G= (n.830G=)
c.1141G= (p.Asp381=)
c.3607G= (p.Asp1203=)
c.656-604G= (n.656-604G=)
c.3538G= (p.Asp1180=)
c.3601G= (p.Asp1201=)
c.3589G= (p.Asp1197=)
2g.144389486C>GCA348698624ZEB2c.*3459G>C (n.*3459G>C)
c.2833G>C (p.Asp945His)
c.3610G>C (p.Asp1204His)
c.3498G>C (p.Gln1166His)
n.3579G>C
c.3274G>C (p.Asp1092His)
c.3685G>C (p.Asp1229His)
c.*3327G>C (n.*3327G>C)
n.3710G>C
c.151+6926G>C (n.151+6926G>C)
c.830G>C (n.830G>C)
c.1141G>C (p.Asp381His)
c.3607G>C (p.Asp1203His)
c.656-604G>C (n.656-604G>C)
c.3538G>C (p.Asp1180His)
c.3601G>C (p.Asp1201His)
c.3589G>C (p.Asp1197His)
2g.144389486C>TCA1898097ZEB2c.*3459G>A (n.*3459G>A)
c.2833G>A (p.Asp945Asn)
c.3610G>A (p.Asp1204Asn)
c.3498G>A (p.Gln1166=)
n.3579G>A
c.3274G>A (p.Asp1092Asn)
c.3685G>A (p.Asp1229Asn)
c.*3327G>A (n.*3327G>A)
n.3710G>A
c.151+6926G>A (n.151+6926G>A)
c.830G>A (n.830G>A)
c.1141G>A (p.Asp381Asn)
c.3607G>A (p.Asp1203Asn)
c.656-604G>A (n.656-604G>A)
c.3538G>A (p.Asp1180Asn)
c.3601G>A (p.Asp1201Asn)
c.3589G>A (p.Asp1197Asn)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.144389487T>ACA429217457ZEB2c.*3458A>T (n.*3458A>T)
c.2832A>T (p.Ser944=)
c.3609A>T (p.Ser1203=)
c.3497A>T (p.Gln1166Leu)
n.3578A>T
c.3273A>T (p.Ser1091=)
c.3684A>T (p.Ser1228=)
c.*3326A>T (n.*3326A>T)
n.3709A>T
c.151+6925A>T (n.151+6925A>T)
c.829A>T (n.829A>T)
c.1140A>T (p.Ser380=)
c.3606A>T (p.Ser1202=)
c.656-605A>T (n.656-605A>T)
c.3537A>T (p.Ser1179=)
c.3600A>T (p.Ser1200=)
c.3588A>T (p.Ser1196=)
2g.144389487T>CCA429217456ZEB2c.*3458A>G (n.*3458A>G)
c.2832A>G (p.Ser944=)
c.3609A>G (p.Ser1203=)
c.3497A>G (p.Gln1166Arg)
n.3578A>G
c.3273A>G (p.Ser1091=)
c.3684A>G (p.Ser1228=)
c.*3326A>G (n.*3326A>G)
n.3709A>G
c.151+6925A>G (n.151+6925A>G)
c.829A>G (n.829A>G)
c.1140A>G (p.Ser380=)
c.3606A>G (p.Ser1202=)
c.656-605A>G (n.656-605A>G)
c.3537A>G (p.Ser1179=)
c.3600A>G (p.Ser1200=)
c.3588A>G (p.Ser1196=)
2g.144389487T>GCA429217455ZEB2c.*3458A>C (n.*3458A>C)
c.2832A>C (p.Ser944=)
c.3609A>C (p.Ser1203=)
c.3497A>C (p.Gln1166Pro)
n.3578A>C
c.3273A>C (p.Ser1091=)
c.3684A>C (p.Ser1228=)
c.*3326A>C (n.*3326A>C)
n.3709A>C
c.151+6925A>C (n.151+6925A>C)
c.829A>C (n.829A>C)
c.1140A>C (p.Ser380=)
c.3606A>C (p.Ser1202=)
c.656-605A>C (n.656-605A>C)
c.3537A>C (p.Ser1179=)
c.3600A>C (p.Ser1200=)
c.3588A>C (p.Ser1196=)
2g.144389488G>ACA1898098ZEB2c.*3457C>T (n.*3457C>T)
c.2831C>T (p.Ser944Leu)
c.3608C>T (p.Ser1203Leu)
c.3496C>T (p.Gln1166Ter)
n.3577C>T
c.3272C>T (p.Ser1091Leu)
c.3683C>T (p.Ser1228Leu)
c.*3325C>T (n.*3325C>T)
n.3708C>T
c.151+6924C>T (n.151+6924C>T)
c.828C>T (n.828C>T)
c.1139C>T (p.Ser380Leu)
c.3605C>T (p.Ser1202Leu)
c.656-606C>T (n.656-606C>T)
c.3536C>T (p.Ser1179Leu)
c.3599C>T (p.Ser1200Leu)
c.3587C>T (p.Ser1196Leu)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.144389488G>CCA348698625ZEB2c.*3457C>G (n.*3457C>G)
c.2831C>G (p.Ser944Ter)
c.3608C>G (p.Ser1203Ter)
c.3496C>G (p.Gln1166Glu)
n.3577C>G
c.3272C>G (p.Ser1091Ter)
c.3683C>G (p.Ser1228Ter)
c.*3325C>G (n.*3325C>G)
n.3708C>G
c.151+6924C>G (n.151+6924C>G)
c.828C>G (n.828C>G)
c.1139C>G (p.Ser380Ter)
c.3605C>G (p.Ser1202Ter)
c.656-606C>G (n.656-606C>G)
c.3536C>G (p.Ser1179Ter)
c.3599C>G (p.Ser1200Ter)
c.3587C>G (p.Ser1196Ter)
2g.144389488G=CA1294881224ZEB2c.*3457C= (n.*3457C=)
c.2831C= (p.Ser944=)
c.3608C= (p.Ser1203=)
c.3496C= (p.Gln1166=)
n.3577C=
c.3272C= (p.Ser1091=)
c.3683C= (p.Ser1228=)
c.*3325C= (n.*3325C=)
n.3708C=
c.151+6924C= (n.151+6924C=)
c.828C= (n.828C=)
c.1139C= (p.Ser380=)
c.3605C= (p.Ser1202=)
c.656-606C= (n.656-606C=)
c.3536C= (p.Ser1179=)
c.3599C= (p.Ser1200=)
c.3587C= (p.Ser1196=)
2g.144389488G>TCA348698626ZEB2c.*3457C>A (n.*3457C>A)
c.2831C>A (p.Ser944Ter)
c.3608C>A (p.Ser1203Ter)
c.3496C>A (p.Gln1166Lys)
n.3577C>A
c.3272C>A (p.Ser1091Ter)
c.3683C>A (p.Ser1228Ter)
c.*3325C>A (n.*3325C>A)
n.3708C>A
c.151+6924C>A (n.151+6924C>A)
c.828C>A (n.828C>A)
c.1139C>A (p.Ser380Ter)
c.3605C>A (p.Ser1202Ter)
c.656-606C>A (n.656-606C>A)
c.3536C>A (p.Ser1179Ter)
c.3599C>A (p.Ser1200Ter)
c.3587C>A (p.Ser1196Ter)
gnomAD v4
2g.144389489A>CCA348698628ZEB2c.*3456T>G (n.*3456T>G)
c.2830T>G (p.Ser944Ala)
c.3607T>G (p.Ser1203Ala)
c.3495T>G (p.Asn1165Lys)
n.3576T>G
c.3271T>G (p.Ser1091Ala)
c.3682T>G (p.Ser1228Ala)
c.*3324T>G (n.*3324T>G)
n.3707T>G
c.151+6923T>G (n.151+6923T>G)
c.827T>G (n.827T>G)
c.1138T>G (p.Ser380Ala)
c.3604T>G (p.Ser1202Ala)
c.656-607T>G (n.656-607T>G)
c.3535T>G (p.Ser1179Ala)
c.3598T>G (p.Ser1200Ala)
c.3586T>G (p.Ser1196Ala)
2g.144389489A>GCA348698629ZEB2c.*3456T>C (n.*3456T>C)
c.2830T>C (p.Ser944Pro)
c.3607T>C (p.Ser1203Pro)
c.3495T>C (p.Asn1165=)
n.3576T>C
c.3271T>C (p.Ser1091Pro)
c.3682T>C (p.Ser1228Pro)
c.*3324T>C (n.*3324T>C)
n.3707T>C
c.151+6923T>C (n.151+6923T>C)
c.827T>C (n.827T>C)
c.1138T>C (p.Ser380Pro)
c.3604T>C (p.Ser1202Pro)
c.656-607T>C (n.656-607T>C)
c.3535T>C (p.Ser1179Pro)
c.3598T>C (p.Ser1200Pro)
c.3586T>C (p.Ser1196Pro)
2g.144389489A>TCA348698627ZEB2c.*3456T>A (n.*3456T>A)
c.2830T>A (p.Ser944Thr)
c.3607T>A (p.Ser1203Thr)
c.3495T>A (p.Asn1165Lys)
n.3576T>A
c.3271T>A (p.Ser1091Thr)
c.3682T>A (p.Ser1228Thr)
c.*3324T>A (n.*3324T>A)
n.3707T>A
c.151+6923T>A (n.151+6923T>A)
c.827T>A (n.827T>A)
c.1138T>A (p.Ser380Thr)
c.3604T>A (p.Ser1202Thr)
c.656-607T>A (n.656-607T>A)
c.3535T>A (p.Ser1179Thr)
c.3598T>A (p.Ser1200Thr)
c.3586T>A (p.Ser1196Thr)
2g.144389490T>ACA348698630ZEB2c.*3455A>T (n.*3455A>T)
c.2829A>T (p.Lys943Asn)
c.3606A>T (p.Lys1202Asn)
c.3494A>T (p.Asn1165Ile)
n.3575A>T
c.3270A>T (p.Lys1090Asn)
c.3681A>T (p.Lys1227Asn)
c.*3323A>T (n.*3323A>T)
n.3706A>T
c.151+6922A>T (n.151+6922A>T)
c.826A>T (n.826A>T)
c.1137A>T (p.Lys379Asn)
c.3603A>T (p.Lys1201Asn)
c.656-608A>T (n.656-608A>T)
c.3534A>T (p.Lys1178Asn)
c.3597A>T (p.Lys1199Asn)
c.3585A>T (p.Lys1195Asn)
2g.144389490T>CCA429217458ZEB2c.*3455A>G (n.*3455A>G)
c.2829A>G (p.Lys943=)
c.3606A>G (p.Lys1202=)
c.3494A>G (p.Asn1165Ser)
n.3575A>G
c.3270A>G (p.Lys1090=)
c.3681A>G (p.Lys1227=)
c.*3323A>G (n.*3323A>G)
n.3706A>G
c.151+6922A>G (n.151+6922A>G)
c.826A>G (n.826A>G)
c.1137A>G (p.Lys379=)
c.3603A>G (p.Lys1201=)
c.656-608A>G (n.656-608A>G)
c.3534A>G (p.Lys1178=)
c.3597A>G (p.Lys1199=)
c.3585A>G (p.Lys1195=)
2g.144389490T>GCA348698631ZEB2c.*3455A>C (n.*3455A>C)
c.2829A>C (p.Lys943Asn)
c.3606A>C (p.Lys1202Asn)
c.3494A>C (p.Asn1165Thr)
n.3575A>C
c.3270A>C (p.Lys1090Asn)
c.3681A>C (p.Lys1227Asn)
c.*3323A>C (n.*3323A>C)
n.3706A>C
c.151+6922A>C (n.151+6922A>C)
c.826A>C (n.826A>C)
c.1137A>C (p.Lys379Asn)
c.3603A>C (p.Lys1201Asn)
c.656-608A>C (n.656-608A>C)
c.3534A>C (p.Lys1178Asn)
c.3597A>C (p.Lys1199Asn)
c.3585A>C (p.Lys1195Asn)
2g.144389491T>ACA348698632ZEB2c.*3454A>T (n.*3454A>T)
c.2828A>T (p.Lys943Ile)
c.3605A>T (p.Lys1202Ile)
c.3493A>T (p.Asn1165Tyr)
n.3574A>T
c.3269A>T (p.Lys1090Ile)
c.3680A>T (p.Lys1227Ile)
c.*3322A>T (n.*3322A>T)
n.3705A>T
c.151+6921A>T (n.151+6921A>T)
c.825A>T (n.825A>T)
c.1136A>T (p.Lys379Ile)
c.3602A>T (p.Lys1201Ile)
c.656-609A>T (n.656-609A>T)
c.3533A>T (p.Lys1178Ile)
c.3596A>T (p.Lys1199Ile)
c.3584A>T (p.Lys1195Ile)
2g.144389491T>CCA348698633ZEB2c.*3454A>G (n.*3454A>G)
c.2828A>G (p.Lys943Arg)
c.3605A>G (p.Lys1202Arg)
c.3493A>G (p.Asn1165Asp)
n.3574A>G
c.3269A>G (p.Lys1090Arg)
c.3680A>G (p.Lys1227Arg)
c.*3322A>G (n.*3322A>G)
n.3705A>G
c.151+6921A>G (n.151+6921A>G)
c.825A>G (n.825A>G)
c.1136A>G (p.Lys379Arg)
c.3602A>G (p.Lys1201Arg)
c.656-609A>G (n.656-609A>G)
c.3533A>G (p.Lys1178Arg)
c.3596A>G (p.Lys1199Arg)
c.3584A>G (p.Lys1195Arg)
2g.144389491T>GCA348698634ZEB2c.*3454A>C (n.*3454A>C)
c.2828A>C (p.Lys943Thr)
c.3605A>C (p.Lys1202Thr)
c.3493A>C (p.Asn1165His)
n.3574A>C
c.3269A>C (p.Lys1090Thr)
c.3680A>C (p.Lys1227Thr)
c.*3322A>C (n.*3322A>C)
n.3705A>C
c.151+6921A>C (n.151+6921A>C)
c.825A>C (n.825A>C)
c.1136A>C (p.Lys379Thr)
c.3602A>C (p.Lys1201Thr)
c.656-609A>C (n.656-609A>C)
c.3533A>C (p.Lys1178Thr)
c.3596A>C (p.Lys1199Thr)
c.3584A>C (p.Lys1195Thr)
2g.144389492T>ACA348698635ZEB2c.*3453A>T (n.*3453A>T)
c.2827A>T (p.Lys943Ter)
c.3604A>T (p.Lys1202Ter)
c.3492A>T (p.Pro1164=)
n.3573A>T
c.3268A>T (p.Lys1090Ter)
c.3679A>T (p.Lys1227Ter)
c.*3321A>T (n.*3321A>T)
n.3704A>T
c.151+6920A>T (n.151+6920A>T)
c.824A>T (n.824A>T)
c.1135A>T (p.Lys379Ter)
c.3601A>T (p.Lys1201Ter)
c.656-610A>T (n.656-610A>T)
c.3532A>T (p.Lys1178Ter)
c.3595A>T (p.Lys1199Ter)
c.3583A>T (p.Lys1195Ter)
2g.144389492T>CCA348698636ZEB2c.*3453A>G (n.*3453A>G)
c.2827A>G (p.Lys943Glu)
c.3604A>G (p.Lys1202Glu)
c.3492A>G (p.Pro1164=)
n.3573A>G
c.3268A>G (p.Lys1090Glu)
c.3679A>G (p.Lys1227Glu)
c.*3321A>G (n.*3321A>G)
n.3704A>G
c.151+6920A>G (n.151+6920A>G)
c.824A>G (n.824A>G)
c.1135A>G (p.Lys379Glu)
c.3601A>G (p.Lys1201Glu)
c.656-610A>G (n.656-610A>G)
c.3532A>G (p.Lys1178Glu)
c.3595A>G (p.Lys1199Glu)
c.3583A>G (p.Lys1195Glu)
2g.144389492T>GCA348698637ZEB2c.*3453A>C (n.*3453A>C)
c.2827A>C (p.Lys943Gln)
c.3604A>C (p.Lys1202Gln)
c.3492A>C (p.Pro1164=)
n.3573A>C
c.3268A>C (p.Lys1090Gln)
c.3679A>C (p.Lys1227Gln)
c.*3321A>C (n.*3321A>C)
n.3704A>C
c.151+6920A>C (n.151+6920A>C)
c.824A>C (n.824A>C)
c.1135A>C (p.Lys379Gln)
c.3601A>C (p.Lys1201Gln)
c.656-610A>C (n.656-610A>C)
c.3532A>C (p.Lys1178Gln)
c.3595A>C (p.Lys1199Gln)
c.3583A>C (p.Lys1195Gln)
2g.144389493G>ACA429217460ZEB2c.*3452C>T (n.*3452C>T)
c.2826C>T (p.Thr942=)
c.3603C>T (p.Thr1201=)
c.3491C>T (p.Pro1164Leu)
n.3572C>T
c.3267C>T (p.Thr1089=)
c.3678C>T (p.Thr1226=)
c.*3320C>T (n.*3320C>T)
n.3703C>T
c.151+6919C>T (n.151+6919C>T)
c.823C>T (n.823C>T)
c.1134C>T (p.Thr378=)
c.3600C>T (p.Thr1200=)
c.656-611C>T (n.656-611C>T)
c.3531C>T (p.Thr1177=)
c.3594C>T (p.Thr1198=)
c.3582C>T (p.Thr1194=)
2g.144389493G>CCA429217461ZEB2c.*3452C>G (n.*3452C>G)
c.2826C>G (p.Thr942=)
c.3603C>G (p.Thr1201=)
c.3491C>G (p.Pro1164Arg)
n.3572C>G
c.3267C>G (p.Thr1089=)
c.3678C>G (p.Thr1226=)
c.*3320C>G (n.*3320C>G)
n.3703C>G
c.151+6919C>G (n.151+6919C>G)
c.823C>G (n.823C>G)
c.1134C>G (p.Thr378=)
c.3600C>G (p.Thr1200=)
c.656-611C>G (n.656-611C>G)
c.3531C>G (p.Thr1177=)
c.3594C>G (p.Thr1198=)
c.3582C>G (p.Thr1194=)
2g.144389493G>TCA429217462ZEB2c.*3452C>A (n.*3452C>A)
c.2826C>A (p.Thr942=)
c.3603C>A (p.Thr1201=)
c.3491C>A (p.Pro1164Gln)
n.3572C>A
c.3267C>A (p.Thr1089=)
c.3678C>A (p.Thr1226=)
c.*3320C>A (n.*3320C>A)
n.3703C>A
c.151+6919C>A (n.151+6919C>A)
c.823C>A (n.823C>A)
c.1134C>A (p.Thr378=)
c.3600C>A (p.Thr1200=)
c.656-611C>A (n.656-611C>A)
c.3531C>A (p.Thr1177=)
c.3594C>A (p.Thr1198=)
c.3582C>A (p.Thr1194=)
2g.144389494G>ACA348698638ZEB2c.*3451C>T (n.*3451C>T)
c.2825C>T (p.Thr942Ile)
c.3602C>T (p.Thr1201Ile)
c.3490C>T (p.Pro1164Ser)
n.3571C>T
c.3266C>T (p.Thr1089Ile)
c.3677C>T (p.Thr1226Ile)
c.*3319C>T (n.*3319C>T)
n.3702C>T
c.151+6918C>T (n.151+6918C>T)
c.822C>T (n.822C>T)
c.1133C>T (p.Thr378Ile)
c.3599C>T (p.Thr1200Ile)
c.656-612C>T (n.656-612C>T)
c.3530C>T (p.Thr1177Ile)
c.3593C>T (p.Thr1198Ile)
c.3581C>T (p.Thr1194Ile)
2g.144389494G>CCA348698639ZEB2c.*3451C>G (n.*3451C>G)
c.2825C>G (p.Thr942Ser)
c.3602C>G (p.Thr1201Ser)
c.3490C>G (p.Pro1164Ala)
n.3571C>G
c.3266C>G (p.Thr1089Ser)
c.3677C>G (p.Thr1226Ser)
c.*3319C>G (n.*3319C>G)
n.3702C>G
c.151+6918C>G (n.151+6918C>G)
c.822C>G (n.822C>G)
c.1133C>G (p.Thr378Ser)
c.3599C>G (p.Thr1200Ser)
c.656-612C>G (n.656-612C>G)
c.3530C>G (p.Thr1177Ser)
c.3593C>G (p.Thr1198Ser)
c.3581C>G (p.Thr1194Ser)
2g.144389494G>TCA348698640ZEB2c.*3451C>A (n.*3451C>A)
c.2825C>A (p.Thr942Asn)
c.3602C>A (p.Thr1201Asn)
c.3490C>A (p.Pro1164Thr)
n.3571C>A
c.3266C>A (p.Thr1089Asn)
c.3677C>A (p.Thr1226Asn)
c.*3319C>A (n.*3319C>A)
n.3702C>A
c.151+6918C>A (n.151+6918C>A)
c.822C>A (n.822C>A)
c.1133C>A (p.Thr378Asn)
c.3599C>A (p.Thr1200Asn)
c.656-612C>A (n.656-612C>A)
c.3530C>A (p.Thr1177Asn)
c.3593C>A (p.Thr1198Asn)
c.3581C>A (p.Thr1194Asn)
2g.144389495T>ACA348698641ZEB2c.*3450A>T (n.*3450A>T)
c.2824A>T (p.Thr942Ser)
c.3601A>T (p.Thr1201Ser)
c.3489A>T (p.Lys1163Asn)
n.3570A>T
c.3265A>T (p.Thr1089Ser)
c.3676A>T (p.Thr1226Ser)
c.*3318A>T (n.*3318A>T)
n.3701A>T
c.151+6917A>T (n.151+6917A>T)
c.821A>T (n.821A>T)
c.1132A>T (p.Thr378Ser)
c.3598A>T (p.Thr1200Ser)
c.656-613A>T (n.656-613A>T)
c.3529A>T (p.Thr1177Ser)
c.3592A>T (p.Thr1198Ser)
c.3580A>T (p.Thr1194Ser)
2g.144389495T>CCA348698642ZEB2c.*3450A>G (n.*3450A>G)
c.2824A>G (p.Thr942Ala)
c.3601A>G (p.Thr1201Ala)
c.3489A>G (p.Lys1163=)
n.3570A>G
c.3265A>G (p.Thr1089Ala)
c.3676A>G (p.Thr1226Ala)
c.*3318A>G (n.*3318A>G)
n.3701A>G
c.151+6917A>G (n.151+6917A>G)
c.821A>G (n.821A>G)
c.1132A>G (p.Thr378Ala)
c.3598A>G (p.Thr1200Ala)
c.656-613A>G (n.656-613A>G)
c.3529A>G (p.Thr1177Ala)
c.3592A>G (p.Thr1198Ala)
c.3580A>G (p.Thr1194Ala)
2g.144389495T>GCA348698643ZEB2c.*3450A>C (n.*3450A>C)
c.2824A>C (p.Thr942Pro)
c.3601A>C (p.Thr1201Pro)
c.3489A>C (p.Lys1163Asn)
n.3570A>C
c.3265A>C (p.Thr1089Pro)
c.3676A>C (p.Thr1226Pro)
c.*3318A>C (n.*3318A>C)
n.3701A>C
c.151+6917A>C (n.151+6917A>C)
c.821A>C (n.821A>C)
c.1132A>C (p.Thr378Pro)
c.3598A>C (p.Thr1200Pro)
c.656-613A>C (n.656-613A>C)
c.3529A>C (p.Thr1177Pro)
c.3592A>C (p.Thr1198Pro)
c.3580A>C (p.Thr1194Pro)
2g.144389496T>ACA348698644ZEB2c.*3449A>T (n.*3449A>T)
c.2823A>T (p.Glu941Asp)
c.3600A>T (p.Glu1200Asp)
c.3488A>T (p.Lys1163Ile)
n.3569A>T
c.3264A>T (p.Glu1088Asp)
c.3675A>T (p.Glu1225Asp)
c.*3317A>T (n.*3317A>T)
n.3700A>T
c.151+6916A>T (n.151+6916A>T)
c.820A>T (n.820A>T)
c.1131A>T (p.Glu377Asp)
c.3597A>T (p.Glu1199Asp)
c.656-614A>T (n.656-614A>T)
c.3528A>T (p.Glu1176Asp)
c.3591A>T (p.Glu1197Asp)
c.3579A>T (p.Glu1193Asp)
2g.144389496T>CCA429217463ZEB2c.*3449A>G (n.*3449A>G)
c.2823A>G (p.Glu941=)
c.3600A>G (p.Glu1200=)
c.3488A>G (p.Lys1163Arg)
n.3569A>G
c.3264A>G (p.Glu1088=)
c.3675A>G (p.Glu1225=)
c.*3317A>G (n.*3317A>G)
n.3700A>G
c.151+6916A>G (n.151+6916A>G)
c.820A>G (n.820A>G)
c.1131A>G (p.Glu377=)
c.3597A>G (p.Glu1199=)
c.656-614A>G (n.656-614A>G)
c.3528A>G (p.Glu1176=)
c.3591A>G (p.Glu1197=)
c.3579A>G (p.Glu1193=)
2g.144389496T>GCA348698645ZEB2c.*3449A>C (n.*3449A>C)
c.2823A>C (p.Glu941Asp)
c.3600A>C (p.Glu1200Asp)
c.3488A>C (p.Lys1163Thr)
n.3569A>C
c.3264A>C (p.Glu1088Asp)
c.3675A>C (p.Glu1225Asp)
c.*3317A>C (n.*3317A>C)
n.3700A>C
c.151+6916A>C (n.151+6916A>C)
c.820A>C (n.820A>C)
c.1131A>C (p.Glu377Asp)
c.3597A>C (p.Glu1199Asp)
c.656-614A>C (n.656-614A>C)
c.3528A>C (p.Glu1176Asp)
c.3591A>C (p.Glu1197Asp)
c.3579A>C (p.Glu1193Asp)
2g.144389497T>ACA348698646ZEB2c.*3448A>T (n.*3448A>T)
c.2822A>T (p.Glu941Val)
c.3599A>T (p.Glu1200Val)
c.3487A>T (p.Lys1163Ter)
n.3568A>T
c.3263A>T (p.Glu1088Val)
c.3674A>T (p.Glu1225Val)
c.*3316A>T (n.*3316A>T)
n.3699A>T
c.151+6915A>T (n.151+6915A>T)
c.819A>T (n.819A>T)
c.1130A>T (p.Glu377Val)
c.3596A>T (p.Glu1199Val)
c.656-615A>T (n.656-615A>T)
c.3527A>T (p.Glu1176Val)
c.3590A>T (p.Glu1197Val)
c.3578A>T (p.Glu1193Val)
2g.144389497T>CCA348698647ZEB2c.*3448A>G (n.*3448A>G)
c.2822A>G (p.Glu941Gly)
c.3599A>G (p.Glu1200Gly)
c.3487A>G (p.Lys1163Glu)
n.3568A>G
c.3263A>G (p.Glu1088Gly)
c.3674A>G (p.Glu1225Gly)
c.*3316A>G (n.*3316A>G)
n.3699A>G
c.151+6915A>G (n.151+6915A>G)
c.819A>G (n.819A>G)
c.1130A>G (p.Glu377Gly)
c.3596A>G (p.Glu1199Gly)
c.656-615A>G (n.656-615A>G)
c.3527A>G (p.Glu1176Gly)
c.3590A>G (p.Glu1197Gly)
c.3578A>G (p.Glu1193Gly)
ClinVar dbSNP
2g.144389497T>GCA348698648ZEB2c.*3448A>C (n.*3448A>C)
c.2822A>C (p.Glu941Ala)
c.3599A>C (p.Glu1200Ala)
c.3487A>C (p.Lys1163Gln)
n.3568A>C
c.3263A>C (p.Glu1088Ala)
c.3674A>C (p.Glu1225Ala)
c.*3316A>C (n.*3316A>C)
n.3699A>C
c.151+6915A>C (n.151+6915A>C)
c.819A>C (n.819A>C)
c.1130A>C (p.Glu377Ala)
c.3596A>C (p.Glu1199Ala)
c.656-615A>C (n.656-615A>C)
c.3527A>C (p.Glu1176Ala)
c.3590A>C (p.Glu1197Ala)
c.3578A>C (p.Glu1193Ala)
2g.144389497T=CA1294881225ZEB2c.*3448A= (n.*3448A=)
c.2822A= (p.Glu941=)
c.3599A= (p.Glu1200=)
c.3487A= (p.Lys1163=)
n.3568A=
c.3263A= (p.Glu1088=)
c.3674A= (p.Glu1225=)
c.*3316A= (n.*3316A=)
n.3699A=
c.151+6915A= (n.151+6915A=)
c.819A= (n.819A=)
c.1130A= (p.Glu377=)
c.3596A= (p.Glu1199=)
c.656-615A= (n.656-615A=)
c.3527A= (p.Glu1176=)
c.3590A= (p.Glu1197=)
c.3578A= (p.Glu1193=)
2g.144389498C>ACA348698649ZEB2c.*3447G>T (n.*3447G>T)
c.2821G>T (p.Glu941Ter)
c.3598G>T (p.Glu1200Ter)
c.3486G>T (p.Trp1162Cys)
n.3567G>T
c.3262G>T (p.Glu1088Ter)
c.3673G>T (p.Glu1225Ter)
c.*3315G>T (n.*3315G>T)
n.3698G>T
c.151+6914G>T (n.151+6914G>T)
c.818G>T (n.818G>T)
c.1129G>T (p.Glu377Ter)
c.3595G>T (p.Glu1199Ter)
c.656-616G>T (n.656-616G>T)
c.3526G>T (p.Glu1176Ter)
c.3589G>T (p.Glu1197Ter)
c.3577G>T (p.Glu1193Ter)
2g.144389498C>GCA348698650ZEB2c.*3447G>C (n.*3447G>C)
c.2821G>C (p.Glu941Gln)
c.3598G>C (p.Glu1200Gln)
c.3486G>C (p.Trp1162Cys)
n.3567G>C
c.3262G>C (p.Glu1088Gln)
c.3673G>C (p.Glu1225Gln)
c.*3315G>C (n.*3315G>C)
n.3698G>C
c.151+6914G>C (n.151+6914G>C)
c.818G>C (n.818G>C)
c.1129G>C (p.Glu377Gln)
c.3595G>C (p.Glu1199Gln)
c.656-616G>C (n.656-616G>C)
c.3526G>C (p.Glu1176Gln)
c.3589G>C (p.Glu1197Gln)
c.3577G>C (p.Glu1193Gln)
2g.144389498C>TCA348698651ZEB2c.*3447G>A (n.*3447G>A)
c.2821G>A (p.Glu941Lys)
c.3598G>A (p.Glu1200Lys)
c.3486G>A (p.Trp1162Ter)
n.3567G>A
c.3262G>A (p.Glu1088Lys)
c.3673G>A (p.Glu1225Lys)
c.*3315G>A (n.*3315G>A)
n.3698G>A
c.151+6914G>A (n.151+6914G>A)
c.818G>A (n.818G>A)
c.1129G>A (p.Glu377Lys)
c.3595G>A (p.Glu1199Lys)
c.656-616G>A (n.656-616G>A)
c.3526G>A (p.Glu1176Lys)
c.3589G>A (p.Glu1197Lys)
c.3577G>A (p.Glu1193Lys)
2g.144389499C>ACA348698652ZEB2c.*3446G>T (n.*3446G>T)
c.2820G>T (p.Met940Ile)
c.3597G>T (p.Met1199Ile)
c.3485G>T (p.Trp1162Leu)
n.3566G>T
c.3261G>T (p.Met1087Ile)
c.3672G>T (p.Met1224Ile)
c.*3314G>T (n.*3314G>T)
n.3697G>T
c.151+6913G>T (n.151+6913G>T)
c.817G>T (n.817G>T)
c.1128G>T (p.Met376Ile)
c.3594G>T (p.Met1198Ile)
c.656-617G>T (n.656-617G>T)
c.3525G>T (p.Met1175Ile)
c.3588G>T (p.Met1196Ile)
c.3576G>T (p.Met1192Ile)
2g.144389499C>GCA348698653ZEB2c.*3446G>C (n.*3446G>C)
c.2820G>C (p.Met940Ile)
c.3597G>C (p.Met1199Ile)
c.3485G>C (p.Trp1162Ser)
n.3566G>C
c.3261G>C (p.Met1087Ile)
c.3672G>C (p.Met1224Ile)
c.*3314G>C (n.*3314G>C)
n.3697G>C
c.151+6913G>C (n.151+6913G>C)
c.817G>C (n.817G>C)
c.1128G>C (p.Met376Ile)
c.3594G>C (p.Met1198Ile)
c.656-617G>C (n.656-617G>C)
c.3525G>C (p.Met1175Ile)
c.3588G>C (p.Met1196Ile)
c.3576G>C (p.Met1192Ile)
2g.144389499C>TCA348698654ZEB2c.*3446G>A (n.*3446G>A)
c.2820G>A (p.Met940Ile)
c.3597G>A (p.Met1199Ile)
c.3485G>A (p.Trp1162Ter)
n.3566G>A
c.3261G>A (p.Met1087Ile)
c.3672G>A (p.Met1224Ile)
c.*3314G>A (n.*3314G>A)
n.3697G>A
c.151+6913G>A (n.151+6913G>A)
c.817G>A (n.817G>A)
c.1128G>A (p.Met376Ile)
c.3594G>A (p.Met1198Ile)
c.656-617G>A (n.656-617G>A)
c.3525G>A (p.Met1175Ile)
c.3588G>A (p.Met1196Ile)
c.3576G>A (p.Met1192Ile)
gnomAD v4
2g.144389500A>CCA348698655ZEB2c.*3445T>G (n.*3445T>G)
c.2819T>G (p.Met940Arg)
c.3596T>G (p.Met1199Arg)
c.3484T>G (p.Trp1162Gly)
n.3565T>G
c.3260T>G (p.Met1087Arg)
c.3671T>G (p.Met1224Arg)
c.*3313T>G (n.*3313T>G)
n.3696T>G
c.151+6912T>G (n.151+6912T>G)
c.816T>G (n.816T>G)
c.1127T>G (p.Met376Arg)
c.3593T>G (p.Met1198Arg)
c.656-618T>G (n.656-618T>G)
c.3524T>G (p.Met1175Arg)
c.3587T>G (p.Met1196Arg)
c.3575T>G (p.Met1192Arg)
2g.144389500A>GCA348698656ZEB2c.*3445T>C (n.*3445T>C)
c.2819T>C (p.Met940Thr)
c.3596T>C (p.Met1199Thr)
c.3484T>C (p.Trp1162Arg)
n.3565T>C
c.3260T>C (p.Met1087Thr)
c.3671T>C (p.Met1224Thr)
c.*3313T>C (n.*3313T>C)
n.3696T>C
c.151+6912T>C (n.151+6912T>C)
c.816T>C (n.816T>C)
c.1127T>C (p.Met376Thr)
c.3593T>C (p.Met1198Thr)
c.656-618T>C (n.656-618T>C)
c.3524T>C (p.Met1175Thr)
c.3587T>C (p.Met1196Thr)
c.3575T>C (p.Met1192Thr)
2g.144389500A>TCA348698657ZEB2c.*3445T>A (n.*3445T>A)
c.2819T>A (p.Met940Lys)
c.3596T>A (p.Met1199Lys)
c.3484T>A (p.Trp1162Arg)
n.3565T>A
c.3260T>A (p.Met1087Lys)
c.3671T>A (p.Met1224Lys)
c.*3313T>A (n.*3313T>A)
n.3696T>A
c.151+6912T>A (n.151+6912T>A)
c.816T>A (n.816T>A)
c.1127T>A (p.Met376Lys)
c.3593T>A (p.Met1198Lys)
c.656-618T>A (n.656-618T>A)
c.3524T>A (p.Met1175Lys)
c.3587T>A (p.Met1196Lys)
c.3575T>A (p.Met1192Lys)
2g.144389501T>ACA348698660ZEB2c.*3444A>T (n.*3444A>T)
c.2818A>T (p.Met940Leu)
c.3595A>T (p.Met1199Leu)
c.3483A>T (p.Lys1161Asn)
n.3564A>T
c.3259A>T (p.Met1087Leu)
c.3670A>T (p.Met1224Leu)
c.*3312A>T (n.*3312A>T)
n.3695A>T
c.151+6911A>T (n.151+6911A>T)
c.815A>T (n.815A>T)
c.1126A>T (p.Met376Leu)
c.3592A>T (p.Met1198Leu)
c.656-619A>T (n.656-619A>T)
c.3523A>T (p.Met1175Leu)
c.3586A>T (p.Met1196Leu)
c.3574A>T (p.Met1192Leu)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.144389501T>CCA348698659ZEB2c.*3444A>G (n.*3444A>G)
c.2818A>G (p.Met940Val)
c.3595A>G (p.Met1199Val)
c.3483A>G (p.Lys1161=)
n.3564A>G
c.3259A>G (p.Met1087Val)
c.3670A>G (p.Met1224Val)
c.*3312A>G (n.*3312A>G)
n.3695A>G
c.151+6911A>G (n.151+6911A>G)
c.815A>G (n.815A>G)
c.1126A>G (p.Met376Val)
c.3592A>G (p.Met1198Val)
c.656-619A>G (n.656-619A>G)
c.3523A>G (p.Met1175Val)
c.3586A>G (p.Met1196Val)
c.3574A>G (p.Met1192Val)
2g.144389501T>GCA348698658ZEB2c.*3444A>C (n.*3444A>C)
c.2818A>C (p.Met940Leu)
c.3595A>C (p.Met1199Leu)
c.3483A>C (p.Lys1161Asn)
n.3564A>C
c.3259A>C (p.Met1087Leu)
c.3670A>C (p.Met1224Leu)
c.*3312A>C (n.*3312A>C)
n.3695A>C
c.151+6911A>C (n.151+6911A>C)
c.815A>C (n.815A>C)
c.1126A>C (p.Met376Leu)
c.3592A>C (p.Met1198Leu)
c.656-619A>C (n.656-619A>C)
c.3523A>C (p.Met1175Leu)
c.3586A>C (p.Met1196Leu)
c.3574A>C (p.Met1192Leu)
2g.144389501T=CA1294881226ZEB2c.*3444A= (n.*3444A=)
c.2818A= (p.Met940=)
c.3595A= (p.Met1199=)
c.3483A= (p.Lys1161=)
n.3564A=
c.3259A= (p.Met1087=)
c.3670A= (p.Met1224=)
c.*3312A= (n.*3312A=)
n.3695A=
c.151+6911A= (n.151+6911A=)
c.815A= (n.815A=)
c.1126A= (p.Met376=)
c.3592A= (p.Met1198=)
c.656-619A= (n.656-619A=)
c.3523A= (p.Met1175=)
c.3586A= (p.Met1196=)
c.3574A= (p.Met1192=)
2g.144389502T>ACA348698661ZEB2c.*3443A>T (n.*3443A>T)
c.2817A>T (p.Lys939Asn)
c.3594A>T (p.Lys1198Asn)
c.3482A>T (p.Lys1161Ile)
n.3563A>T
c.3258A>T (p.Lys1086Asn)
c.3669A>T (p.Lys1223Asn)
c.*3311A>T (n.*3311A>T)
n.3694A>T
c.151+6910A>T (n.151+6910A>T)
c.814A>T (n.814A>T)
c.1125A>T (p.Lys375Asn)
c.3591A>T (p.Lys1197Asn)
c.656-620A>T (n.656-620A>T)
c.3522A>T (p.Lys1174Asn)
c.3585A>T (p.Lys1195Asn)
c.3573A>T (p.Lys1191Asn)
2g.144389502T>CCA429217464ZEB2c.*3443A>G (n.*3443A>G)
c.2817A>G (p.Lys939=)
c.3594A>G (p.Lys1198=)
c.3482A>G (p.Lys1161Arg)
n.3563A>G
c.3258A>G (p.Lys1086=)
c.3669A>G (p.Lys1223=)
c.*3311A>G (n.*3311A>G)
n.3694A>G
c.151+6910A>G (n.151+6910A>G)
c.814A>G (n.814A>G)
c.1125A>G (p.Lys375=)
c.3591A>G (p.Lys1197=)
c.656-620A>G (n.656-620A>G)
c.3522A>G (p.Lys1174=)
c.3585A>G (p.Lys1195=)
c.3573A>G (p.Lys1191=)
gnomAD v4
2g.144389502T>GCA348698662ZEB2c.*3443A>C (n.*3443A>C)
c.2817A>C (p.Lys939Asn)
c.3594A>C (p.Lys1198Asn)
c.3482A>C (p.Lys1161Thr)
n.3563A>C
c.3258A>C (p.Lys1086Asn)
c.3669A>C (p.Lys1223Asn)
c.*3311A>C (n.*3311A>C)
n.3694A>C
c.151+6910A>C (n.151+6910A>C)
c.814A>C (n.814A>C)
c.1125A>C (p.Lys375Asn)
c.3591A>C (p.Lys1197Asn)
c.656-620A>C (n.656-620A>C)
c.3522A>C (p.Lys1174Asn)
c.3585A>C (p.Lys1195Asn)
c.3573A>C (p.Lys1191Asn)
2g.144389503T>ACA348698663ZEB2c.*3442A>T (n.*3442A>T)
c.2816A>T (p.Lys939Ile)
c.3593A>T (p.Lys1198Ile)
c.3481A>T (p.Lys1161Ter)
n.3562A>T
c.3257A>T (p.Lys1086Ile)
c.3668A>T (p.Lys1223Ile)
c.*3310A>T (n.*3310A>T)
n.3693A>T
c.151+6909A>T (n.151+6909A>T)
c.813A>T (n.813A>T)
c.1124A>T (p.Lys375Ile)
c.3590A>T (p.Lys1197Ile)
c.656-621A>T (n.656-621A>T)
c.3521A>T (p.Lys1174Ile)
c.3584A>T (p.Lys1195Ile)
c.3572A>T (p.Lys1191Ile)
2g.144389503T>CCA348698665ZEB2c.*3442A>G (n.*3442A>G)
c.2816A>G (p.Lys939Arg)
c.3593A>G (p.Lys1198Arg)
c.3481A>G (p.Lys1161Glu)
n.3562A>G
c.3257A>G (p.Lys1086Arg)
c.3668A>G (p.Lys1223Arg)
c.*3310A>G (n.*3310A>G)
n.3693A>G
c.151+6909A>G (n.151+6909A>G)
c.813A>G (n.813A>G)
c.1124A>G (p.Lys375Arg)
c.3590A>G (p.Lys1197Arg)
c.656-621A>G (n.656-621A>G)
c.3521A>G (p.Lys1174Arg)
c.3584A>G (p.Lys1195Arg)
c.3572A>G (p.Lys1191Arg)
2g.144389503T>GCA348698664ZEB2c.*3442A>C (n.*3442A>C)
c.2816A>C (p.Lys939Thr)
c.3593A>C (p.Lys1198Thr)
c.3481A>C (p.Lys1161Gln)
n.3562A>C
c.3257A>C (p.Lys1086Thr)
c.3668A>C (p.Lys1223Thr)
c.*3310A>C (n.*3310A>C)
n.3693A>C
c.151+6909A>C (n.151+6909A>C)
c.813A>C (n.813A>C)
c.1124A>C (p.Lys375Thr)
c.3590A>C (p.Lys1197Thr)
c.656-621A>C (n.656-621A>C)
c.3521A>C (p.Lys1174Thr)
c.3584A>C (p.Lys1195Thr)
c.3572A>C (p.Lys1191Thr)
2g.144389504T>ACA348698666ZEB2c.*3441A>T (n.*3441A>T)
c.2815A>T (p.Lys939Ter)
c.3592A>T (p.Lys1198Ter)
c.3480A>T (p.Gly1160=)
n.3561A>T
c.3256A>T (p.Lys1086Ter)
c.3667A>T (p.Lys1223Ter)
c.*3309A>T (n.*3309A>T)
n.3692A>T
c.151+6908A>T (n.151+6908A>T)
c.812A>T (n.812A>T)
c.1123A>T (p.Lys375Ter)
c.3589A>T (p.Lys1197Ter)
c.656-622A>T (n.656-622A>T)
c.3520A>T (p.Lys1174Ter)
c.3583A>T (p.Lys1195Ter)
c.3571A>T (p.Lys1191Ter)
2g.144389504T>CCA348698667ZEB2c.*3441A>G (n.*3441A>G)
c.2815A>G (p.Lys939Glu)
c.3592A>G (p.Lys1198Glu)
c.3480A>G (p.Gly1160=)
n.3561A>G
c.3256A>G (p.Lys1086Glu)
c.3667A>G (p.Lys1223Glu)
c.*3309A>G (n.*3309A>G)
n.3692A>G
c.151+6908A>G (n.151+6908A>G)
c.812A>G (n.812A>G)
c.1123A>G (p.Lys375Glu)
c.3589A>G (p.Lys1197Glu)
c.656-622A>G (n.656-622A>G)
c.3520A>G (p.Lys1174Glu)
c.3583A>G (p.Lys1195Glu)
c.3571A>G (p.Lys1191Glu)
2g.144389504T>GCA348698668ZEB2c.*3441A>C (n.*3441A>C)
c.2815A>C (p.Lys939Gln)
c.3592A>C (p.Lys1198Gln)
c.3480A>C (p.Gly1160=)
n.3561A>C
c.3256A>C (p.Lys1086Gln)
c.3667A>C (p.Lys1223Gln)
c.*3309A>C (n.*3309A>C)
n.3692A>C
c.151+6908A>C (n.151+6908A>C)
c.812A>C (n.812A>C)
c.1123A>C (p.Lys375Gln)
c.3589A>C (p.Lys1197Gln)
c.656-622A>C (n.656-622A>C)
c.3520A>C (p.Lys1174Gln)
c.3583A>C (p.Lys1195Gln)
c.3571A>C (p.Lys1191Gln)
2g.144389505C>ACA429217467ZEB2c.*3440G>T (n.*3440G>T)
c.2814G>T (p.Gly938=)
c.3591G>T (p.Gly1197=)
c.3479G>T (p.Gly1160Val)
n.3560G>T
c.3255G>T (p.Gly1085=)
c.3666G>T (p.Gly1222=)
c.*3308G>T (n.*3308G>T)
n.3691G>T
c.151+6907G>T (n.151+6907G>T)
c.811G>T (n.811G>T)
c.1122G>T (p.Gly374=)
c.3588G>T (p.Gly1196=)
c.656-623G>T (n.656-623G>T)
c.3519G>T (p.Gly1173=)
c.3582G>T (p.Gly1194=)
c.3570G>T (p.Gly1190=)
2g.144389505C=CA1294881227ZEB2c.*3440G= (n.*3440G=)
c.2814G= (p.Gly938=)
c.3591G= (p.Gly1197=)
c.3479G= (p.Gly1160=)
n.3560G=
c.3255G= (p.Gly1085=)
c.3666G= (p.Gly1222=)
c.*3308G= (n.*3308G=)
n.3691G=
c.151+6907G= (n.151+6907G=)
c.811G= (n.811G=)
c.1122G= (p.Gly374=)
c.3588G= (p.Gly1196=)
c.656-623G= (n.656-623G=)
c.3519G= (p.Gly1173=)
c.3582G= (p.Gly1194=)
c.3570G= (p.Gly1190=)
2g.144389505C>GCA429217465ZEB2c.*3440G>C (n.*3440G>C)
c.2814G>C (p.Gly938=)
c.3591G>C (p.Gly1197=)
c.3479G>C (p.Gly1160Ala)
n.3560G>C
c.3255G>C (p.Gly1085=)
c.3666G>C (p.Gly1222=)
c.*3308G>C (n.*3308G>C)
n.3691G>C
c.151+6907G>C (n.151+6907G>C)
c.811G>C (n.811G>C)
c.1122G>C (p.Gly374=)
c.3588G>C (p.Gly1196=)
c.656-623G>C (n.656-623G>C)
c.3519G>C (p.Gly1173=)
c.3582G>C (p.Gly1194=)
c.3570G>C (p.Gly1190=)
2g.144389505C>TCA429217466ZEB2c.*3440G>A (n.*3440G>A)
c.2814G>A (p.Gly938=)
c.3591G>A (p.Gly1197=)
c.3479G>A (p.Gly1160Glu)
n.3560G>A
c.3255G>A (p.Gly1085=)
c.3666G>A (p.Gly1222=)
c.*3308G>A (n.*3308G>A)
n.3691G>A
c.151+6907G>A (n.151+6907G>A)
c.811G>A (n.811G>A)
c.1122G>A (p.Gly374=)
c.3588G>A (p.Gly1196=)
c.656-623G>A (n.656-623G>A)
c.3519G>A (p.Gly1173=)
c.3582G>A (p.Gly1194=)
c.3570G>A (p.Gly1190=)
ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC
2g.144389506C>ACA348698669ZEB2c.*3439G>T (n.*3439G>T)
c.2813G>T (p.Gly938Val)
c.3590G>T (p.Gly1197Val)
c.3478G>T (p.Gly1160Ter)
n.3559G>T
c.3254G>T (p.Gly1085Val)
c.3665G>T (p.Gly1222Val)
c.*3307G>T (n.*3307G>T)
n.3690G>T
c.151+6906G>T (n.151+6906G>T)
c.810G>T (n.810G>T)
c.1121G>T (p.Gly374Val)
c.3587G>T (p.Gly1196Val)
c.656-624G>T (n.656-624G>T)
c.3518G>T (p.Gly1173Val)
c.3581G>T (p.Gly1194Val)
c.3569G>T (p.Gly1190Val)
2g.144389506C>GCA348698670ZEB2c.*3439G>C (n.*3439G>C)
c.2813G>C (p.Gly938Ala)
c.3590G>C (p.Gly1197Ala)
c.3478G>C (p.Gly1160Arg)
n.3559G>C
c.3254G>C (p.Gly1085Ala)
c.3665G>C (p.Gly1222Ala)
c.*3307G>C (n.*3307G>C)
n.3690G>C
c.151+6906G>C (n.151+6906G>C)
c.810G>C (n.810G>C)
c.1121G>C (p.Gly374Ala)
c.3587G>C (p.Gly1196Ala)
c.656-624G>C (n.656-624G>C)
c.3518G>C (p.Gly1173Ala)
c.3581G>C (p.Gly1194Ala)
c.3569G>C (p.Gly1190Ala)
gnomAD v4
2g.144389506C>TCA348698671ZEB2c.*3439G>A (n.*3439G>A)
c.2813G>A (p.Gly938Glu)
c.3590G>A (p.Gly1197Glu)
c.3478G>A (p.Gly1160Arg)
n.3559G>A
c.3254G>A (p.Gly1085Glu)
c.3665G>A (p.Gly1222Glu)
c.*3307G>A (n.*3307G>A)
n.3690G>A
c.151+6906G>A (n.151+6906G>A)
c.810G>A (n.810G>A)
c.1121G>A (p.Gly374Glu)
c.3587G>A (p.Gly1196Glu)
c.656-624G>A (n.656-624G>A)
c.3518G>A (p.Gly1173Glu)
c.3581G>A (p.Gly1194Glu)
c.3569G>A (p.Gly1190Glu)
2g.144389507C>ACA348698806ZEB2c.*3438G>T (n.*3438G>T)
c.2812G>T (p.Gly938Trp)
c.3589G>T (p.Gly1197Trp)
c.3477G>T (p.Met1159Ile)
n.3558G>T
c.3253G>T (p.Gly1085Trp)
c.3664G>T (p.Gly1222Trp)
c.*3306G>T (n.*3306G>T)
n.3689G>T
c.151+6905G>T (n.151+6905G>T)
c.809G>T (n.809G>T)
c.1120G>T (p.Gly374Trp)
c.3586G>T (p.Gly1196Trp)
c.656-625G>T (n.656-625G>T)
c.3517G>T (p.Gly1173Trp)
c.3580G>T (p.Gly1194Trp)
c.3568G>T (p.Gly1190Trp)
2g.144389507C>GCA348698809ZEB2c.*3438G>C (n.*3438G>C)
c.2812G>C (p.Gly938Arg)
c.3589G>C (p.Gly1197Arg)
c.3477G>C (p.Met1159Ile)
n.3558G>C
c.3253G>C (p.Gly1085Arg)
c.3664G>C (p.Gly1222Arg)
c.*3306G>C (n.*3306G>C)
n.3689G>C
c.151+6905G>C (n.151+6905G>C)
c.809G>C (n.809G>C)
c.1120G>C (p.Gly374Arg)
c.3586G>C (p.Gly1196Arg)
c.656-625G>C (n.656-625G>C)
c.3517G>C (p.Gly1173Arg)
c.3580G>C (p.Gly1194Arg)
c.3568G>C (p.Gly1190Arg)
2g.144389507C>TCA348698810ZEB2c.*3438G>A (n.*3438G>A)
c.2812G>A (p.Gly938Arg)
c.3589G>A (p.Gly1197Arg)
c.3477G>A (p.Met1159Ile)
n.3558G>A
c.3253G>A (p.Gly1085Arg)
c.3664G>A (p.Gly1222Arg)
c.*3306G>A (n.*3306G>A)
n.3689G>A
c.151+6905G>A (n.151+6905G>A)
c.809G>A (n.809G>A)
c.1120G>A (p.Gly374Arg)
c.3586G>A (p.Gly1196Arg)
c.656-625G>A (n.656-625G>A)
c.3517G>A (p.Gly1173Arg)
c.3580G>A (p.Gly1194Arg)
c.3568G>A (p.Gly1190Arg)
COSMIC
2g.144389508A>CCA348698811ZEB2c.*3437T>G (n.*3437T>G)
c.2811T>G (p.Asp937Glu)
c.3588T>G (p.Asp1196Glu)
c.3476T>G (p.Met1159Arg)
n.3557T>G
c.3252T>G (p.Asp1084Glu)
c.3663T>G (p.Asp1221Glu)
c.*3305T>G (n.*3305T>G)
n.3688T>G
c.151+6904T>G (n.151+6904T>G)
c.808T>G (n.808T>G)
c.1119T>G (p.Asp373Glu)
c.3585T>G (p.Asp1195Glu)
c.656-626T>G (n.656-626T>G)
c.3516T>G (p.Asp1172Glu)
c.3579T>G (p.Asp1193Glu)
c.3567T>G (p.Asp1189Glu)
2g.144389508A>GCA429441054ZEB2c.*3437T>C (n.*3437T>C)
c.2811T>C (p.Asp937=)
c.3588T>C (p.Asp1196=)
c.3476T>C (p.Met1159Thr)
n.3557T>C
c.3252T>C (p.Asp1084=)
c.3663T>C (p.Asp1221=)
c.*3305T>C (n.*3305T>C)
n.3688T>C
c.151+6904T>C (n.151+6904T>C)
c.808T>C (n.808T>C)
c.1119T>C (p.Asp373=)
c.3585T>C (p.Asp1195=)
c.656-626T>C (n.656-626T>C)
c.3516T>C (p.Asp1172=)
c.3579T>C (p.Asp1193=)
c.3567T>C (p.Asp1189=)
2g.144389508A>TCA348698812ZEB2c.*3437T>A (n.*3437T>A)
c.2811T>A (p.Asp937Glu)
c.3588T>A (p.Asp1196Glu)
c.3476T>A (p.Met1159Lys)
n.3557T>A
c.3252T>A (p.Asp1084Glu)
c.3663T>A (p.Asp1221Glu)
c.*3305T>A (n.*3305T>A)
n.3688T>A
c.151+6904T>A (n.151+6904T>A)
c.808T>A (n.808T>A)
c.1119T>A (p.Asp373Glu)
c.3585T>A (p.Asp1195Glu)
c.656-626T>A (n.656-626T>A)
c.3516T>A (p.Asp1172Glu)
c.3579T>A (p.Asp1193Glu)
c.3567T>A (p.Asp1189Glu)
2g.144389509T>ACA348698815ZEB2c.*3436A>T (n.*3436A>T)
c.2810A>T (p.Asp937Val)
c.3587A>T (p.Asp1196Val)
c.3475A>T (p.Met1159Leu)
n.3556A>T
c.3251A>T (p.Asp1084Val)
c.3662A>T (p.Asp1221Val)
c.*3304A>T (n.*3304A>T)
n.3687A>T
c.151+6903A>T (n.151+6903A>T)
c.807A>T (n.807A>T)
c.1118A>T (p.Asp373Val)
c.3584A>T (p.Asp1195Val)
c.656-627A>T (n.656-627A>T)
c.3515A>T (p.Asp1172Val)
c.3578A>T (p.Asp1193Val)
c.3566A>T (p.Asp1189Val)
2g.144389509T>CCA348698814ZEB2c.*3436A>G (n.*3436A>G)
c.2810A>G (p.Asp937Gly)
c.3587A>G (p.Asp1196Gly)
c.3475A>G (p.Met1159Val)
n.3556A>G
c.3251A>G (p.Asp1084Gly)
c.3662A>G (p.Asp1221Gly)
c.*3304A>G (n.*3304A>G)
n.3687A>G
c.151+6903A>G (n.151+6903A>G)
c.807A>G (n.807A>G)
c.1118A>G (p.Asp373Gly)
c.3584A>G (p.Asp1195Gly)
c.656-627A>G (n.656-627A>G)
c.3515A>G (p.Asp1172Gly)
c.3578A>G (p.Asp1193Gly)
c.3566A>G (p.Asp1189Gly)
2g.144389509T>GCA348698813ZEB2c.*3436A>C (n.*3436A>C)
c.2810A>C (p.Asp937Ala)
c.3587A>C (p.Asp1196Ala)
c.3475A>C (p.Met1159Leu)
n.3556A>C
c.3251A>C (p.Asp1084Ala)
c.3662A>C (p.Asp1221Ala)
c.*3304A>C (n.*3304A>C)
n.3687A>C
c.151+6903A>C (n.151+6903A>C)
c.807A>C (n.807A>C)
c.1118A>C (p.Asp373Ala)
c.3584A>C (p.Asp1195Ala)
c.656-627A>C (n.656-627A>C)
c.3515A>C (p.Asp1172Ala)
c.3578A>C (p.Asp1193Ala)
c.3566A>C (p.Asp1189Ala)
2g.144389510C>ACA348698818ZEB2c.*3435G>T (n.*3435G>T)
c.2809G>T (p.Asp937Tyr)
c.3586G>T (p.Asp1196Tyr)
c.3474G>T (p.Arg1158Ser)
n.3555G>T
c.3250G>T (p.Asp1084Tyr)
c.3661G>T (p.Asp1221Tyr)
c.*3303G>T (n.*3303G>T)
n.3686G>T
c.151+6902G>T (n.151+6902G>T)
c.806G>T (n.806G>T)
c.1117G>T (p.Asp373Tyr)
c.3583G>T (p.Asp1195Tyr)
c.656-628G>T (n.656-628G>T)
c.3514G>T (p.Asp1172Tyr)
c.3577G>T (p.Asp1193Tyr)
c.3565G>T (p.Asp1189Tyr)
2g.144389510C>GCA348698820ZEB2c.*3435G>C (n.*3435G>C)
c.2809G>C (p.Asp937His)
c.3586G>C (p.Asp1196His)
c.3474G>C (p.Arg1158Ser)
n.3555G>C
c.3250G>C (p.Asp1084His)
c.3661G>C (p.Asp1221His)
c.*3303G>C (n.*3303G>C)
n.3686G>C
c.151+6902G>C (n.151+6902G>C)
c.806G>C (n.806G>C)
c.1117G>C (p.Asp373His)
c.3583G>C (p.Asp1195His)
c.656-628G>C (n.656-628G>C)
c.3514G>C (p.Asp1172His)
c.3577G>C (p.Asp1193His)
c.3565G>C (p.Asp1189His)
2g.144389510C>TCA348698821ZEB2c.*3435G>A (n.*3435G>A)
c.2809G>A (p.Asp937Asn)
c.3586G>A (p.Asp1196Asn)
c.3474G>A (p.Arg1158=)
n.3555G>A
c.3250G>A (p.Asp1084Asn)
c.3661G>A (p.Asp1221Asn)
c.*3303G>A (n.*3303G>A)
n.3686G>A
c.151+6902G>A (n.151+6902G>A)
c.806G>A (n.806G>A)
c.1117G>A (p.Asp373Asn)
c.3583G>A (p.Asp1195Asn)
c.656-628G>A (n.656-628G>A)
c.3514G>A (p.Asp1172Asn)
c.3577G>A (p.Asp1193Asn)
c.3565G>A (p.Asp1189Asn)
2g.144389511C>ACA348698823ZEB2c.*3434G>T (n.*3434G>T)
c.2808G>T (p.Glu936Asp)
c.3585G>T (p.Glu1195Asp)
c.3473G>T (p.Arg1158Met)
n.3554G>T
c.3249G>T (p.Glu1083Asp)
c.3660G>T (p.Glu1220Asp)
c.*3302G>T (n.*3302G>T)
n.3685G>T
c.151+6901G>T (n.151+6901G>T)
c.805G>T (n.805G>T)
c.1116G>T (p.Glu372Asp)
c.3582G>T (p.Glu1194Asp)
c.656-629G>T (n.656-629G>T)
c.3513G>T (p.Glu1171Asp)
c.3576G>T (p.Glu1192Asp)
c.3564G>T (p.Glu1188Asp)
2g.144389511C=CA1294881228ZEB2c.*3434G= (n.*3434G=)
c.2808G= (p.Glu936=)
c.3585G= (p.Glu1195=)
c.3473G= (p.Arg1158=)
n.3554G=
c.3249G= (p.Glu1083=)
c.3660G= (p.Glu1220=)
c.*3302G= (n.*3302G=)
n.3685G=
c.151+6901G= (n.151+6901G=)
c.805G= (n.805G=)
c.1116G= (p.Glu372=)
c.3582G= (p.Glu1194=)
c.656-629G= (n.656-629G=)
c.3513G= (p.Glu1171=)
c.3576G= (p.Glu1192=)
c.3564G= (p.Glu1188=)
2g.144389511C>GCA348698824ZEB2c.*3434G>C (n.*3434G>C)
c.2808G>C (p.Glu936Asp)
c.3585G>C (p.Glu1195Asp)
c.3473G>C (p.Arg1158Thr)
n.3554G>C
c.3249G>C (p.Glu1083Asp)
c.3660G>C (p.Glu1220Asp)
c.*3302G>C (n.*3302G>C)
n.3685G>C
c.151+6901G>C (n.151+6901G>C)
c.805G>C (n.805G>C)
c.1116G>C (p.Glu372Asp)
c.3582G>C (p.Glu1194Asp)
c.656-629G>C (n.656-629G>C)
c.3513G>C (p.Glu1171Asp)
c.3576G>C (p.Glu1192Asp)
c.3564G>C (p.Glu1188Asp)
2g.144389511C>TCA429441055ZEB2c.*3434G>A (n.*3434G>A)
c.2808G>A (p.Glu936=)
c.3585G>A (p.Glu1195=)
c.3473G>A (p.Arg1158Lys)
n.3554G>A
c.3249G>A (p.Glu1083=)
c.3660G>A (p.Glu1220=)
c.*3302G>A (n.*3302G>A)
n.3685G>A
c.151+6901G>A (n.151+6901G>A)
c.805G>A (n.805G>A)
c.1116G>A (p.Glu372=)
c.3582G>A (p.Glu1194=)
c.656-629G>A (n.656-629G>A)
c.3513G>A (p.Glu1171=)
c.3576G>A (p.Glu1192=)
c.3564G>A (p.Glu1188=)
dbSNP gnomAD v2 gnomAD v4
2g.144389512T>ACA348698826ZEB2c.*3433A>T (n.*3433A>T)
c.2807A>T (p.Glu936Val)
c.3584A>T (p.Glu1195Val)
c.3472A>T (p.Arg1158Trp)
n.3553A>T
c.3248A>T (p.Glu1083Val)
c.3659A>T (p.Glu1220Val)
c.*3301A>T (n.*3301A>T)
n.3684A>T
c.151+6900A>T (n.151+6900A>T)
c.804A>T (n.804A>T)
c.1115A>T (p.Glu372Val)
c.3581A>T (p.Glu1194Val)
c.656-630A>T (n.656-630A>T)
c.3512A>T (p.Glu1171Val)
c.3575A>T (p.Glu1192Val)
c.3563A>T (p.Glu1188Val)
2g.144389512T>CCA348698827ZEB2c.*3433A>G (n.*3433A>G)
c.2807A>G (p.Glu936Gly)
c.3584A>G (p.Glu1195Gly)
c.3472A>G (p.Arg1158Gly)
n.3553A>G
c.3248A>G (p.Glu1083Gly)
c.3659A>G (p.Glu1220Gly)
c.*3301A>G (n.*3301A>G)
n.3684A>G
c.151+6900A>G (n.151+6900A>G)
c.804A>G (n.804A>G)
c.1115A>G (p.Glu372Gly)
c.3581A>G (p.Glu1194Gly)
c.656-630A>G (n.656-630A>G)
c.3512A>G (p.Glu1171Gly)
c.3575A>G (p.Glu1192Gly)
c.3563A>G (p.Glu1188Gly)
2g.144389512T>GCA348698828ZEB2c.*3433A>C (n.*3433A>C)
c.2807A>C (p.Glu936Ala)
c.3584A>C (p.Glu1195Ala)
c.3472A>C (p.Arg1158=)
n.3553A>C
c.3248A>C (p.Glu1083Ala)
c.3659A>C (p.Glu1220Ala)
c.*3301A>C (n.*3301A>C)
n.3684A>C
c.151+6900A>C (n.151+6900A>C)
c.804A>C (n.804A>C)
c.1115A>C (p.Glu372Ala)
c.3581A>C (p.Glu1194Ala)
c.656-630A>C (n.656-630A>C)
c.3512A>C (p.Glu1171Ala)
c.3575A>C (p.Glu1192Ala)
c.3563A>C (p.Glu1188Ala)
ClinVar
2g.144389513C>ACA348698830ZEB2c.*3432G>T (n.*3432G>T)
c.2806G>T (p.Glu936Ter)
c.3583G>T (p.Glu1195Ter)
c.3471G>T (p.Arg1157=)
n.3552G>T
c.3247G>T (p.Glu1083Ter)
c.3658G>T (p.Glu1220Ter)
c.*3300G>T (n.*3300G>T)
n.3683G>T
c.151+6899G>T (n.151+6899G>T)
c.803G>T (n.803G>T)
c.1114G>T (p.Glu372Ter)
c.3580G>T (p.Glu1194Ter)
c.656-631G>T (n.656-631G>T)
c.3511G>T (p.Glu1171Ter)
c.3574G>T (p.Glu1192Ter)
c.3562G>T (p.Glu1188Ter)
2g.144389513C>GCA348698832ZEB2c.*3432G>C (n.*3432G>C)
c.2806G>C (p.Glu936Gln)
c.3583G>C (p.Glu1195Gln)
c.3471G>C (p.Arg1157=)
n.3552G>C
c.3247G>C (p.Glu1083Gln)
c.3658G>C (p.Glu1220Gln)
c.*3300G>C (n.*3300G>C)
n.3683G>C
c.151+6899G>C (n.151+6899G>C)
c.803G>C (n.803G>C)
c.1114G>C (p.Glu372Gln)
c.3580G>C (p.Glu1194Gln)
c.656-631G>C (n.656-631G>C)
c.3511G>C (p.Glu1171Gln)
c.3574G>C (p.Glu1192Gln)
c.3562G>C (p.Glu1188Gln)
gnomAD v4
2g.144389513C>TCA348698834ZEB2c.*3432G>A (n.*3432G>A)
c.2806G>A (p.Glu936Lys)
c.3583G>A (p.Glu1195Lys)
c.3471G>A (p.Arg1157=)
n.3552G>A
c.3247G>A (p.Glu1083Lys)
c.3658G>A (p.Glu1220Lys)
c.*3300G>A (n.*3300G>A)
n.3683G>A
c.151+6899G>A (n.151+6899G>A)
c.803G>A (n.803G>A)
c.1114G>A (p.Glu372Lys)
c.3580G>A (p.Glu1194Lys)
c.656-631G>A (n.656-631G>A)
c.3511G>A (p.Glu1171Lys)
c.3574G>A (p.Glu1192Lys)
c.3562G>A (p.Glu1188Lys)
2g.144389514C>ACA429441056ZEB2c.*3431G>T (n.*3431G>T)
c.2805G>T (p.Ser935=)
c.3582G>T (p.Ser1194=)
c.3470G>T (p.Arg1157Leu)
n.3551G>T
c.3246G>T (p.Ser1082=)
c.3657G>T (p.Ser1219=)
c.*3299G>T (n.*3299G>T)
n.3682G>T
c.151+6898G>T (n.151+6898G>T)
c.802G>T (n.802G>T)
c.1113G>T (p.Ser371=)
c.3579G>T (p.Ser1193=)
c.656-632G>T (n.656-632G>T)
c.3510G>T (p.Ser1170=)
c.3573G>T (p.Ser1191=)
c.3561G>T (p.Ser1187=)
2g.144389514C=CA1294881229ZEB2c.*3431G= (n.*3431G=)
c.2805G= (p.Ser935=)
c.3582G= (p.Ser1194=)
c.3470G= (p.Arg1157=)
n.3551G=
c.3246G= (p.Ser1082=)
c.3657G= (p.Ser1219=)
c.*3299G= (n.*3299G=)
n.3682G=
c.151+6898G= (n.151+6898G=)
c.802G= (n.802G=)
c.1113G= (p.Ser371=)
c.3579G= (p.Ser1193=)
c.656-632G= (n.656-632G=)
c.3510G= (p.Ser1170=)
c.3573G= (p.Ser1191=)
c.3561G= (p.Ser1187=)
2g.144389514C>GCA429441057ZEB2c.*3431G>C (n.*3431G>C)
c.2805G>C (p.Ser935=)
c.3582G>C (p.Ser1194=)
c.3470G>C (p.Arg1157Pro)
n.3551G>C
c.3246G>C (p.Ser1082=)
c.3657G>C (p.Ser1219=)
c.*3299G>C (n.*3299G>C)
n.3682G>C
c.151+6898G>C (n.151+6898G>C)
c.802G>C (n.802G>C)
c.1113G>C (p.Ser371=)
c.3579G>C (p.Ser1193=)
c.656-632G>C (n.656-632G>C)
c.3510G>C (p.Ser1170=)
c.3573G>C (p.Ser1191=)
c.3561G>C (p.Ser1187=)
2g.144389514C>TCA16603742ZEB2c.*3431G>A (n.*3431G>A)
c.2805G>A (p.Ser935=)
c.3582G>A (p.Ser1194=)
c.3470G>A (p.Arg1157Gln)
n.3551G>A
c.3246G>A (p.Ser1082=)
c.3657G>A (p.Ser1219=)
c.*3299G>A (n.*3299G>A)
n.3682G>A
c.151+6898G>A (n.151+6898G>A)
c.802G>A (n.802G>A)
c.1113G>A (p.Ser371=)
c.3579G>A (p.Ser1193=)
c.656-632G>A (n.656-632G>A)
c.3510G>A (p.Ser1170=)
c.3573G>A (p.Ser1191=)
c.3561G>A (p.Ser1187=)
ClinVar dbSNP
2g.144389515delCA2586969974ZEB2c.*3430del (n.*3430del)
c.2804del (p.Ser935TrpfsTer?)
c.3581del (p.Ser1194TrpfsTer?)
c.3469del (p.Arg1157GlyfsTer?)
n.3550del
c.3245del (p.Ser1082TrpfsTer?)
c.3656del (p.Ser1219TrpfsTer?)
c.*3298del (n.*3298del)
n.3681del
c.151+6897del (n.151+6897del)
c.801del (n.801del)
c.1112del (p.Ser371TrpfsTer?)
c.3578del (p.Ser1193TrpfsTer?)
c.656-633del (n.656-633del)
c.3509del (p.Ser1170TrpfsTer?)
c.3572del (p.Ser1191TrpfsTer?)
c.3560del (p.Ser1187TrpfsTer?)
2g.144389515G>ACA1898099ZEB2c.*3430C>T (n.*3430C>T)
c.2804C>T (p.Ser935Leu)
c.3581C>T (p.Ser1194Leu)
c.3469C>T (p.Arg1157Trp)
n.3550C>T
c.3245C>T (p.Ser1082Leu)
c.3656C>T (p.Ser1219Leu)
c.*3298C>T (n.*3298C>T)
n.3681C>T
c.151+6897C>T (n.151+6897C>T)
c.801C>T (n.801C>T)
c.1112C>T (p.Ser371Leu)
c.3578C>T (p.Ser1193Leu)
c.656-633C>T (n.656-633C>T)
c.3509C>T (p.Ser1170Leu)
c.3572C>T (p.Ser1191Leu)
c.3560C>T (p.Ser1187Leu)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.144389515G>CCA348698840ZEB2c.*3430C>G (n.*3430C>G)
c.2804C>G (p.Ser935Trp)
c.3581C>G (p.Ser1194Trp)
c.3469C>G (p.Arg1157Gly)
n.3550C>G
c.3245C>G (p.Ser1082Trp)
c.3656C>G (p.Ser1219Trp)
c.*3298C>G (n.*3298C>G)
n.3681C>G
c.151+6897C>G (n.151+6897C>G)
c.801C>G (n.801C>G)
c.1112C>G (p.Ser371Trp)
c.3578C>G (p.Ser1193Trp)
c.656-633C>G (n.656-633C>G)
c.3509C>G (p.Ser1170Trp)
c.3572C>G (p.Ser1191Trp)
c.3560C>G (p.Ser1187Trp)
2g.144389515G=CA1294881230ZEB2c.*3430C= (n.*3430C=)
c.2804C= (p.Ser935=)
c.3581C= (p.Ser1194=)
c.3469C= (p.Arg1157=)
n.3550C=
c.3245C= (p.Ser1082=)
c.3656C= (p.Ser1219=)
c.*3298C= (n.*3298C=)
n.3681C=
c.151+6897C= (n.151+6897C=)
c.801C= (n.801C=)
c.1112C= (p.Ser371=)
c.3578C= (p.Ser1193=)
c.656-633C= (n.656-633C=)
c.3509C= (p.Ser1170=)
c.3572C= (p.Ser1191=)
c.3560C= (p.Ser1187=)
2g.144389515G>TCA348698837ZEB2c.*3430C>A (n.*3430C>A)
c.2804C>A (p.Ser935Ter)
c.3581C>A (p.Ser1194Ter)
c.3469C>A (p.Arg1157=)
n.3550C>A
c.3245C>A (p.Ser1082Ter)
c.3656C>A (p.Ser1219Ter)
c.*3298C>A (n.*3298C>A)
n.3681C>A
c.151+6897C>A (n.151+6897C>A)
c.801C>A (n.801C>A)
c.1112C>A (p.Ser371Ter)
c.3578C>A (p.Ser1193Ter)
c.656-633C>A (n.656-633C>A)
c.3509C>A (p.Ser1170Ter)
c.3572C>A (p.Ser1191Ter)
c.3560C>A (p.Ser1187Ter)
2g.144389516A>CCA348698844ZEB2c.*3429T>G (n.*3429T>G)
c.2803T>G (p.Ser935Ala)
c.3580T>G (p.Ser1194Ala)
c.3468T>G (p.Val1156=)
n.3549T>G
c.3244T>G (p.Ser1082Ala)
c.3655T>G (p.Ser1219Ala)
c.*3297T>G (n.*3297T>G)
n.3680T>G
c.151+6896T>G (n.151+6896T>G)
c.800T>G (n.800T>G)
c.1111T>G (p.Ser371Ala)
c.3577T>G (p.Ser1193Ala)
c.656-634T>G (n.656-634T>G)
c.3508T>G (p.Ser1170Ala)
c.3571T>G (p.Ser1191Ala)
c.3559T>G (p.Ser1187Ala)
2g.144389516A>GCA348698846ZEB2c.*3429T>C (n.*3429T>C)
c.2803T>C (p.Ser935Pro)
c.3580T>C (p.Ser1194Pro)
c.3468T>C (p.Val1156=)
n.3549T>C
c.3244T>C (p.Ser1082Pro)
c.3655T>C (p.Ser1219Pro)
c.*3297T>C (n.*3297T>C)
n.3680T>C
c.151+6896T>C (n.151+6896T>C)
c.800T>C (n.800T>C)
c.1111T>C (p.Ser371Pro)
c.3577T>C (p.Ser1193Pro)
c.656-634T>C (n.656-634T>C)
c.3508T>C (p.Ser1170Pro)
c.3571T>C (p.Ser1191Pro)
c.3559T>C (p.Ser1187Pro)
2g.144389516A>TCA348698851ZEB2c.*3429T>A (n.*3429T>A)
c.2803T>A (p.Ser935Thr)
c.3580T>A (p.Ser1194Thr)
c.3468T>A (p.Val1156=)
n.3549T>A
c.3244T>A (p.Ser1082Thr)
c.3655T>A (p.Ser1219Thr)
c.*3297T>A (n.*3297T>A)
n.3680T>A
c.151+6896T>A (n.151+6896T>A)
c.800T>A (n.800T>A)
c.1111T>A (p.Ser371Thr)
c.3577T>A (p.Ser1193Thr)
c.656-634T>A (n.656-634T>A)
c.3508T>A (p.Ser1170Thr)
c.3571T>A (p.Ser1191Thr)
c.3559T>A (p.Ser1187Thr)
2g.144389517A>CCA348698853ZEB2c.*3428T>G (n.*3428T>G)
c.2802T>G (p.Ser934Arg)
c.3579T>G (p.Ser1193Arg)
c.3467T>G (p.Val1156Gly)
n.3548T>G
c.3243T>G (p.Ser1081Arg)
c.3654T>G (p.Ser1218Arg)
c.*3296T>G (n.*3296T>G)
n.3679T>G
c.151+6895T>G (n.151+6895T>G)
c.799T>G (n.799T>G)
c.1110T>G (p.Ser370Arg)
c.3576T>G (p.Ser1192Arg)
c.656-635T>G (n.656-635T>G)
c.3507T>G (p.Ser1169Arg)
c.3570T>G (p.Ser1190Arg)
c.3558T>G (p.Ser1186Arg)
2g.144389517A>GCA429441058ZEB2c.*3428T>C (n.*3428T>C)
c.2802T>C (p.Ser934=)
c.3579T>C (p.Ser1193=)
c.3467T>C (p.Val1156Ala)
n.3548T>C
c.3243T>C (p.Ser1081=)
c.3654T>C (p.Ser1218=)
c.*3296T>C (n.*3296T>C)
n.3679T>C
c.151+6895T>C (n.151+6895T>C)
c.799T>C (n.799T>C)
c.1110T>C (p.Ser370=)
c.3576T>C (p.Ser1192=)
c.656-635T>C (n.656-635T>C)
c.3507T>C (p.Ser1169=)
c.3570T>C (p.Ser1190=)
c.3558T>C (p.Ser1186=)
2g.144389517A>TCA348698855ZEB2c.*3428T>A (n.*3428T>A)
c.2802T>A (p.Ser934Arg)
c.3579T>A (p.Ser1193Arg)
c.3467T>A (p.Val1156Asp)
n.3548T>A
c.3243T>A (p.Ser1081Arg)
c.3654T>A (p.Ser1218Arg)
c.*3296T>A (n.*3296T>A)
n.3679T>A
c.151+6895T>A (n.151+6895T>A)
c.799T>A (n.799T>A)
c.1110T>A (p.Ser370Arg)
c.3576T>A (p.Ser1192Arg)
c.656-635T>A (n.656-635T>A)
c.3507T>A (p.Ser1169Arg)
c.3570T>A (p.Ser1190Arg)
c.3558T>A (p.Ser1186Arg)
2g.144389518C>ACA348698858ZEB2c.*3427G>T (n.*3427G>T)
c.2801G>T (p.Ser934Ile)
c.3578G>T (p.Ser1193Ile)
c.3466G>T (p.Val1156Phe)
n.3547G>T
c.3242G>T (p.Ser1081Ile)
c.3653G>T (p.Ser1218Ile)
c.*3295G>T (n.*3295G>T)
n.3678G>T
c.151+6894G>T (n.151+6894G>T)
c.798G>T (n.798G>T)
c.1109G>T (p.Ser370Ile)
c.3575G>T (p.Ser1192Ile)
c.656-636G>T (n.656-636G>T)
c.3506G>T (p.Ser1169Ile)
c.3569G>T (p.Ser1190Ile)
c.3557G>T (p.Ser1186Ile)
2g.144389518C>GCA348698862ZEB2c.*3427G>C (n.*3427G>C)
c.2801G>C (p.Ser934Thr)
c.3578G>C (p.Ser1193Thr)
c.3466G>C (p.Val1156Leu)
n.3547G>C
c.3242G>C (p.Ser1081Thr)
c.3653G>C (p.Ser1218Thr)
c.*3295G>C (n.*3295G>C)
n.3678G>C
c.151+6894G>C (n.151+6894G>C)
c.798G>C (n.798G>C)
c.1109G>C (p.Ser370Thr)
c.3575G>C (p.Ser1192Thr)
c.656-636G>C (n.656-636G>C)
c.3506G>C (p.Ser1169Thr)
c.3569G>C (p.Ser1190Thr)
c.3557G>C (p.Ser1186Thr)
ClinVar
2g.144389518C>TCA348698863ZEB2c.*3427G>A (n.*3427G>A)
c.2801G>A (p.Ser934Asn)
c.3578G>A (p.Ser1193Asn)
c.3466G>A (p.Val1156Ile)
n.3547G>A
c.3242G>A (p.Ser1081Asn)
c.3653G>A (p.Ser1218Asn)
c.*3295G>A (n.*3295G>A)
n.3678G>A
c.151+6894G>A (n.151+6894G>A)
c.798G>A (n.798G>A)
c.1109G>A (p.Ser370Asn)
c.3575G>A (p.Ser1192Asn)
c.656-636G>A (n.656-636G>A)
c.3506G>A (p.Ser1169Asn)
c.3569G>A (p.Ser1190Asn)
c.3557G>A (p.Ser1186Asn)
gnomAD v4
2g.144389519T>ACA348698867ZEB2c.*3426A>T (n.*3426A>T)
c.2800A>T (p.Ser934Cys)
c.3577A>T (p.Ser1193Cys)
c.3465A>T (p.Ile1155=)
n.3546A>T
c.3241A>T (p.Ser1081Cys)
c.3652A>T (p.Ser1218Cys)
c.*3294A>T (n.*3294A>T)
n.3677A>T
c.151+6893A>T (n.151+6893A>T)
c.797A>T (n.797A>T)
c.1108A>T (p.Ser370Cys)
c.3574A>T (p.Ser1192Cys)
c.656-637A>T (n.656-637A>T)
c.3505A>T (p.Ser1169Cys)
c.3568A>T (p.Ser1190Cys)
c.3556A>T (p.Ser1186Cys)
2g.144389519T>CCA348698869ZEB2c.*3426A>G (n.*3426A>G)
c.2800A>G (p.Ser934Gly)
c.3577A>G (p.Ser1193Gly)
c.3465A>G (p.Ile1155Met)
n.3546A>G
c.3241A>G (p.Ser1081Gly)
c.3652A>G (p.Ser1218Gly)
c.*3294A>G (n.*3294A>G)
n.3677A>G
c.151+6893A>G (n.151+6893A>G)
c.797A>G (n.797A>G)
c.1108A>G (p.Ser370Gly)
c.3574A>G (p.Ser1192Gly)
c.656-637A>G (n.656-637A>G)
c.3505A>G (p.Ser1169Gly)
c.3568A>G (p.Ser1190Gly)
c.3556A>G (p.Ser1186Gly)
dbSNP gnomAD v3 gnomAD v4
2g.144389519T>GCA348698871ZEB2c.*3426A>C (n.*3426A>C)
c.2800A>C (p.Ser934Arg)
c.3577A>C (p.Ser1193Arg)
c.3465A>C (p.Ile1155=)
n.3546A>C
c.3241A>C (p.Ser1081Arg)
c.3652A>C (p.Ser1218Arg)
c.*3294A>C (n.*3294A>C)
n.3677A>C
c.151+6893A>C (n.151+6893A>C)
c.797A>C (n.797A>C)
c.1108A>C (p.Ser370Arg)
c.3574A>C (p.Ser1192Arg)
c.656-637A>C (n.656-637A>C)
c.3505A>C (p.Ser1169Arg)
c.3568A>C (p.Ser1190Arg)
c.3556A>C (p.Ser1186Arg)
2g.144389519T=CA1294881231ZEB2c.*3426A= (n.*3426A=)
c.2800A= (p.Ser934=)
c.3577A= (p.Ser1193=)
c.3465A= (p.Ile1155=)
n.3546A=
c.3241A= (p.Ser1081=)
c.3652A= (p.Ser1218=)
c.*3294A= (n.*3294A=)
n.3677A=
c.151+6893A= (n.151+6893A=)
c.797A= (n.797A=)
c.1108A= (p.Ser370=)
c.3574A= (p.Ser1192=)
c.656-637A= (n.656-637A=)
c.3505A= (p.Ser1169=)
c.3568A= (p.Ser1190=)
c.3556A= (p.Ser1186=)
2g.144389520A>CCA348698874ZEB2c.*3425T>G (n.*3425T>G)
c.2799T>G (p.Asp933Glu)
c.3576T>G (p.Asp1192Glu)
c.3464T>G (p.Ile1155Arg)
n.3545T>G
c.3240T>G (p.Asp1080Glu)
c.3651T>G (p.Asp1217Glu)
c.*3293T>G (n.*3293T>G)
n.3676T>G
c.151+6892T>G (n.151+6892T>G)
c.796T>G (n.796T>G)
c.1107T>G (p.Asp369Glu)
c.3573T>G (p.Asp1191Glu)
c.656-638T>G (n.656-638T>G)
c.3504T>G (p.Asp1168Glu)
c.3567T>G (p.Asp1189Glu)
c.3555T>G (p.Asp1185Glu)
2g.144389520A>GCA429441059ZEB2c.*3425T>C (n.*3425T>C)
c.2799T>C (p.Asp933=)
c.3576T>C (p.Asp1192=)
c.3464T>C (p.Ile1155Thr)
n.3545T>C
c.3240T>C (p.Asp1080=)
c.3651T>C (p.Asp1217=)
c.*3293T>C (n.*3293T>C)
n.3676T>C
c.151+6892T>C (n.151+6892T>C)
c.796T>C (n.796T>C)
c.1107T>C (p.Asp369=)
c.3573T>C (p.Asp1191=)
c.656-638T>C (n.656-638T>C)
c.3504T>C (p.Asp1168=)
c.3567T>C (p.Asp1189=)
c.3555T>C (p.Asp1185=)
gnomAD v4
2g.144389520A>TCA348698876ZEB2c.*3425T>A (n.*3425T>A)
c.2799T>A (p.Asp933Glu)
c.3576T>A (p.Asp1192Glu)
c.3464T>A (p.Ile1155Lys)
n.3545T>A
c.3240T>A (p.Asp1080Glu)
c.3651T>A (p.Asp1217Glu)
c.*3293T>A (n.*3293T>A)
n.3676T>A
c.151+6892T>A (n.151+6892T>A)
c.796T>A (n.796T>A)
c.1107T>A (p.Asp369Glu)
c.3573T>A (p.Asp1191Glu)
c.656-638T>A (n.656-638T>A)
c.3504T>A (p.Asp1168Glu)
c.3567T>A (p.Asp1189Glu)
c.3555T>A (p.Asp1185Glu)
2g.144389521T>ACA348698880ZEB2c.*3424A>T (n.*3424A>T)
c.2798A>T (p.Asp933Val)
c.3575A>T (p.Asp1192Val)
c.3463A>T (p.Ile1155Leu)
n.3544A>T
c.3239A>T (p.Asp1080Val)
c.3650A>T (p.Asp1217Val)
c.*3292A>T (n.*3292A>T)
n.3675A>T
c.151+6891A>T (n.151+6891A>T)
c.795A>T (n.795A>T)
c.1106A>T (p.Asp369Val)
c.3572A>T (p.Asp1191Val)
c.656-639A>T (n.656-639A>T)
c.3503A>T (p.Asp1168Val)
c.3566A>T (p.Asp1189Val)
c.3554A>T (p.Asp1185Val)
2g.144389521T>CCA1898100ZEB2c.*3424A>G (n.*3424A>G)
c.2798A>G (p.Asp933Gly)
c.3575A>G (p.Asp1192Gly)
c.3463A>G (p.Ile1155Val)
n.3544A>G
c.3239A>G (p.Asp1080Gly)
c.3650A>G (p.Asp1217Gly)
c.*3292A>G (n.*3292A>G)
n.3675A>G
c.151+6891A>G (n.151+6891A>G)
c.795A>G (n.795A>G)
c.1106A>G (p.Asp369Gly)
c.3572A>G (p.Asp1191Gly)
c.656-639A>G (n.656-639A>G)
c.3503A>G (p.Asp1168Gly)
c.3566A>G (p.Asp1189Gly)
c.3554A>G (p.Asp1185Gly)
dbSNP ExAC gnomAD v3 gnomAD v4
2g.144389521T>GCA1898101ZEB2c.*3424A>C (n.*3424A>C)
c.2798A>C (p.Asp933Ala)
c.3575A>C (p.Asp1192Ala)
c.3463A>C (p.Ile1155Leu)
n.3544A>C
c.3239A>C (p.Asp1080Ala)
c.3650A>C (p.Asp1217Ala)
c.*3292A>C (n.*3292A>C)
n.3675A>C
c.151+6891A>C (n.151+6891A>C)
c.795A>C (n.795A>C)
c.1106A>C (p.Asp369Ala)
c.3572A>C (p.Asp1191Ala)
c.656-639A>C (n.656-639A>C)
c.3503A>C (p.Asp1168Ala)
c.3566A>C (p.Asp1189Ala)
c.3554A>C (p.Asp1185Ala)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.144389521T=CA1294881232ZEB2c.*3424A= (n.*3424A=)
c.2798A= (p.Asp933=)
c.3575A= (p.Asp1192=)
c.3463A= (p.Ile1155=)
n.3544A=
c.3239A= (p.Asp1080=)
c.3650A= (p.Asp1217=)
c.*3292A= (n.*3292A=)
n.3675A=
c.151+6891A= (n.151+6891A=)
c.795A= (n.795A=)
c.1106A= (p.Asp369=)
c.3572A= (p.Asp1191=)
c.656-639A= (n.656-639A=)
c.3503A= (p.Asp1168=)
c.3566A= (p.Asp1189=)
c.3554A= (p.Asp1185=)
2g.144389522C>ACA348698881ZEB2c.*3423G>T (n.*3423G>T)
c.2797G>T (p.Asp933Tyr)
c.3574G>T (p.Asp1192Tyr)
c.3462G>T (p.Thr1154=)
n.3543G>T
c.3238G>T (p.Asp1080Tyr)
c.3649G>T (p.Asp1217Tyr)
c.*3291G>T (n.*3291G>T)
n.3674G>T
c.151+6890G>T (n.151+6890G>T)
c.794G>T (n.794G>T)
c.1105G>T (p.Asp369Tyr)
c.3571G>T (p.Asp1191Tyr)
c.656-640G>T (n.656-640G>T)
c.3502G>T (p.Asp1168Tyr)
c.3565G>T (p.Asp1189Tyr)
c.3553G>T (p.Asp1185Tyr)
ClinVar dbSNP
2g.144389522C=CA1294881233ZEB2c.*3423G= (n.*3423G=)
c.2797G= (p.Asp933=)
c.3574G= (p.Asp1192=)
c.3462G= (p.Thr1154=)
n.3543G=
c.3238G= (p.Asp1080=)
c.3649G= (p.Asp1217=)
c.*3291G= (n.*3291G=)
n.3674G=
c.151+6890G= (n.151+6890G=)
c.794G= (n.794G=)
c.1105G= (p.Asp369=)
c.3571G= (p.Asp1191=)
c.656-640G= (n.656-640G=)
c.3502G= (p.Asp1168=)
c.3565G= (p.Asp1189=)
c.3553G= (p.Asp1185=)
2g.144389522C>GCA348698883ZEB2c.*3423G>C (n.*3423G>C)
c.2797G>C (p.Asp933His)
c.3574G>C (p.Asp1192His)
c.3462G>C (p.Thr1154=)
n.3543G>C
c.3238G>C (p.Asp1080His)
c.3649G>C (p.Asp1217His)
c.*3291G>C (n.*3291G>C)
n.3674G>C
c.151+6890G>C (n.151+6890G>C)
c.794G>C (n.794G>C)
c.1105G>C (p.Asp369His)
c.3571G>C (p.Asp1191His)
c.656-640G>C (n.656-640G>C)
c.3502G>C (p.Asp1168His)
c.3565G>C (p.Asp1189His)
c.3553G>C (p.Asp1185His)
ClinVar dbSNP
2g.144389522C>TCA348698885ZEB2c.*3423G>A (n.*3423G>A)
c.2797G>A (p.Asp933Asn)
c.3574G>A (p.Asp1192Asn)
c.3462G>A (p.Thr1154=)
n.3543G>A
c.3238G>A (p.Asp1080Asn)
c.3649G>A (p.Asp1217Asn)
c.*3291G>A (n.*3291G>A)
n.3674G>A
c.151+6890G>A (n.151+6890G>A)
c.794G>A (n.794G>A)
c.1105G>A (p.Asp369Asn)
c.3571G>A (p.Asp1191Asn)
c.656-640G>A (n.656-640G>A)
c.3502G>A (p.Asp1168Asn)
c.3565G>A (p.Asp1189Asn)
c.3553G>A (p.Asp1185Asn)
2g.144389523G>ACA429441060ZEB2c.*3422C>T (n.*3422C>T)
c.2796C>T (p.Asp932=)
c.3573C>T (p.Asp1191=)
c.3461C>T (p.Thr1154Met)
n.3542C>T
c.3237C>T (p.Asp1079=)
c.3648C>T (p.Asp1216=)
c.*3290C>T (n.*3290C>T)
n.3673C>T
c.151+6889C>T (n.151+6889C>T)
c.793C>T (n.793C>T)
c.1104C>T (p.Asp368=)
c.3570C>T (p.Asp1190=)
c.656-641C>T (n.656-641C>T)
c.3501C>T (p.Asp1167=)
c.3564C>T (p.Asp1188=)
c.3552C>T (p.Asp1184=)
dbSNP gnomAD v2 gnomAD v4
2g.144389523G>CCA348698888ZEB2c.*3422C>G (n.*3422C>G)
c.2796C>G (p.Asp932Glu)
c.3573C>G (p.Asp1191Glu)
c.3461C>G (p.Thr1154Arg)
n.3542C>G
c.3237C>G (p.Asp1079Glu)
c.3648C>G (p.Asp1216Glu)
c.*3290C>G (n.*3290C>G)
n.3673C>G
c.151+6889C>G (n.151+6889C>G)
c.793C>G (n.793C>G)
c.1104C>G (p.Asp368Glu)
c.3570C>G (p.Asp1190Glu)
c.656-641C>G (n.656-641C>G)
c.3501C>G (p.Asp1167Glu)
c.3564C>G (p.Asp1188Glu)
c.3552C>G (p.Asp1184Glu)
2g.144389523G=CA1294881234ZEB2c.*3422C= (n.*3422C=)
c.2796C= (p.Asp932=)
c.3573C= (p.Asp1191=)
c.3461C= (p.Thr1154=)
n.3542C=
c.3237C= (p.Asp1079=)
c.3648C= (p.Asp1216=)
c.*3290C= (n.*3290C=)
n.3673C=
c.151+6889C= (n.151+6889C=)
c.793C= (n.793C=)
c.1104C= (p.Asp368=)
c.3570C= (p.Asp1190=)
c.656-641C= (n.656-641C=)
c.3501C= (p.Asp1167=)
c.3564C= (p.Asp1188=)
c.3552C= (p.Asp1184=)
2g.144389523G>TCA348698889ZEB2c.*3422C>A (n.*3422C>A)
c.2796C>A (p.Asp932Glu)
c.3573C>A (p.Asp1191Glu)
c.3461C>A (p.Thr1154Lys)
n.3542C>A
c.3237C>A (p.Asp1079Glu)
c.3648C>A (p.Asp1216Glu)
c.*3290C>A (n.*3290C>A)
n.3673C>A
c.151+6889C>A (n.151+6889C>A)
c.793C>A (n.793C>A)
c.1104C>A (p.Asp368Glu)
c.3570C>A (p.Asp1190Glu)
c.656-641C>A (n.656-641C>A)
c.3501C>A (p.Asp1167Glu)
c.3564C>A (p.Asp1188Glu)
c.3552C>A (p.Asp1184Glu)
2g.144389524T>ACA348698891ZEB2c.*3421A>T (n.*3421A>T)
c.2795A>T (p.Asp932Val)
c.3572A>T (p.Asp1191Val)
c.3460A>T (p.Thr1154Ser)
n.3541A>T
c.3236A>T (p.Asp1079Val)
c.3647A>T (p.Asp1216Val)
c.*3289A>T (n.*3289A>T)
n.3672A>T
c.151+6888A>T (n.151+6888A>T)
c.792A>T (n.792A>T)
c.1103A>T (p.Asp368Val)
c.3569A>T (p.Asp1190Val)
c.656-642A>T (n.656-642A>T)
c.3500A>T (p.Asp1167Val)
c.3563A>T (p.Asp1188Val)
c.3551A>T (p.Asp1184Val)
2g.144389524T>CCA348698893ZEB2c.*3421A>G (n.*3421A>G)
c.2795A>G (p.Asp932Gly)
c.3572A>G (p.Asp1191Gly)
c.3460A>G (p.Thr1154Ala)
n.3541A>G
c.3236A>G (p.Asp1079Gly)
c.3647A>G (p.Asp1216Gly)
c.*3289A>G (n.*3289A>G)
n.3672A>G
c.151+6888A>G (n.151+6888A>G)
c.792A>G (n.792A>G)
c.1103A>G (p.Asp368Gly)
c.3569A>G (p.Asp1190Gly)
c.656-642A>G (n.656-642A>G)
c.3500A>G (p.Asp1167Gly)
c.3563A>G (p.Asp1188Gly)
c.3551A>G (p.Asp1184Gly)
2g.144389524T>GCA348698894ZEB2c.*3421A>C (n.*3421A>C)
c.2795A>C (p.Asp932Ala)
c.3572A>C (p.Asp1191Ala)
c.3460A>C (p.Thr1154Pro)
n.3541A>C
c.3236A>C (p.Asp1079Ala)
c.3647A>C (p.Asp1216Ala)
c.*3289A>C (n.*3289A>C)
n.3672A>C
c.151+6888A>C (n.151+6888A>C)
c.792A>C (n.792A>C)
c.1103A>C (p.Asp368Ala)
c.3569A>C (p.Asp1190Ala)
c.656-642A>C (n.656-642A>C)
c.3500A>C (p.Asp1167Ala)
c.3563A>C (p.Asp1188Ala)
c.3551A>C (p.Asp1184Ala)
2g.144389525C>ACA348698896ZEB2c.*3420G>T (n.*3420G>T)
c.2794G>T (p.Asp932Tyr)
c.3571G>T (p.Asp1191Tyr)
c.3459G>T (p.Trp1153Cys)
n.3540G>T
c.3235G>T (p.Asp1079Tyr)
c.3646G>T (p.Asp1216Tyr)
c.*3288G>T (n.*3288G>T)
n.3671G>T
c.151+6887G>T (n.151+6887G>T)
c.791G>T (n.791G>T)
c.1102G>T (p.Asp368Tyr)
c.3568G>T (p.Asp1190Tyr)
c.656-643G>T (n.656-643G>T)
c.3499G>T (p.Asp1167Tyr)
c.3562G>T (p.Asp1188Tyr)
c.3550G>T (p.Asp1184Tyr)
2g.144389525C>GCA348698898ZEB2c.*3420G>C (n.*3420G>C)
c.2794G>C (p.Asp932His)
c.3571G>C (p.Asp1191His)
c.3459G>C (p.Trp1153Cys)
n.3540G>C
c.3235G>C (p.Asp1079His)
c.3646G>C (p.Asp1216His)
c.*3288G>C (n.*3288G>C)
n.3671G>C
c.151+6887G>C (n.151+6887G>C)
c.791G>C (n.791G>C)
c.1102G>C (p.Asp368His)
c.3568G>C (p.Asp1190His)
c.656-643G>C (n.656-643G>C)
c.3499G>C (p.Asp1167His)
c.3562G>C (p.Asp1188His)
c.3550G>C (p.Asp1184His)
2g.144389525C>TCA348698900ZEB2c.*3420G>A (n.*3420G>A)
c.2794G>A (p.Asp932Asn)
c.3571G>A (p.Asp1191Asn)
c.3459G>A (p.Trp1153Ter)
n.3540G>A
c.3235G>A (p.Asp1079Asn)
c.3646G>A (p.Asp1216Asn)
c.*3288G>A (n.*3288G>A)
n.3671G>A
c.151+6887G>A (n.151+6887G>A)
c.791G>A (n.791G>A)
c.1102G>A (p.Asp368Asn)
c.3568G>A (p.Asp1190Asn)
c.656-643G>A (n.656-643G>A)
c.3499G>A (p.Asp1167Asn)
c.3562G>A (p.Asp1188Asn)
c.3550G>A (p.Asp1184Asn)
2g.144389526C>ACA348698906ZEB2c.*3419G>T (n.*3419G>T)
c.2793G>T (p.Met931Ile)
c.3570G>T (p.Met1190Ile)
c.3458G>T (p.Trp1153Leu)
n.3539G>T
c.3234G>T (p.Met1078Ile)
c.3645G>T (p.Met1215Ile)
c.*3287G>T (n.*3287G>T)
n.3670G>T
c.151+6886G>T (n.151+6886G>T)
c.790G>T (n.790G>T)
c.1101G>T (p.Met367Ile)
c.3567G>T (p.Met1189Ile)
c.656-644G>T (n.656-644G>T)
c.3498G>T (p.Met1166Ile)
c.3561G>T (p.Met1187Ile)
c.3549G>T (p.Met1183Ile)
2g.144389526C>GCA348698905ZEB2c.*3419G>C (n.*3419G>C)
c.2793G>C (p.Met931Ile)
c.3570G>C (p.Met1190Ile)
c.3458G>C (p.Trp1153Ser)
n.3539G>C
c.3234G>C (p.Met1078Ile)
c.3645G>C (p.Met1215Ile)
c.*3287G>C (n.*3287G>C)
n.3670G>C
c.151+6886G>C (n.151+6886G>C)
c.790G>C (n.790G>C)
c.1101G>C (p.Met367Ile)
c.3567G>C (p.Met1189Ile)
c.656-644G>C (n.656-644G>C)
c.3498G>C (p.Met1166Ile)
c.3561G>C (p.Met1187Ile)
c.3549G>C (p.Met1183Ile)
ClinVar
2g.144389526C>TCA348698903ZEB2c.*3419G>A (n.*3419G>A)
c.2793G>A (p.Met931Ile)
c.3570G>A (p.Met1190Ile)
c.3458G>A (p.Trp1153Ter)
n.3539G>A
c.3234G>A (p.Met1078Ile)
c.3645G>A (p.Met1215Ile)
c.*3287G>A (n.*3287G>A)
n.3670G>A
c.151+6886G>A (n.151+6886G>A)
c.790G>A (n.790G>A)
c.1101G>A (p.Met367Ile)
c.3567G>A (p.Met1189Ile)
c.656-644G>A (n.656-644G>A)
c.3498G>A (p.Met1166Ile)
c.3561G>A (p.Met1187Ile)
c.3549G>A (p.Met1183Ile)
2g.144389527A=CA1294881235ZEB2c.*3418T= (n.*3418T=)
c.2792T= (p.Met931=)
c.3569T= (p.Met1190=)
c.3457T= (p.Trp1153=)
n.3538T=
c.3233T= (p.Met1078=)
c.3644T= (p.Met1215=)
c.*3286T= (n.*3286T=)
n.3669T=
c.151+6885T= (n.151+6885T=)
c.789T= (n.789T=)
c.1100T= (p.Met367=)
c.3566T= (p.Met1189=)
c.656-645T= (n.656-645T=)
c.3497T= (p.Met1166=)
c.3560T= (p.Met1187=)
c.3548T= (p.Met1183=)
2g.144389527A>CCA348698907ZEB2c.*3418T>G (n.*3418T>G)
c.2792T>G (p.Met931Arg)
c.3569T>G (p.Met1190Arg)
c.3457T>G (p.Trp1153Gly)
n.3538T>G
c.3233T>G (p.Met1078Arg)
c.3644T>G (p.Met1215Arg)
c.*3286T>G (n.*3286T>G)
n.3669T>G
c.151+6885T>G (n.151+6885T>G)
c.789T>G (n.789T>G)
c.1100T>G (p.Met367Arg)
c.3566T>G (p.Met1189Arg)
c.656-645T>G (n.656-645T>G)
c.3497T>G (p.Met1166Arg)
c.3560T>G (p.Met1187Arg)
c.3548T>G (p.Met1183Arg)
gnomAD v4
2g.144389527A>GCA1898102ZEB2c.*3418T>C (n.*3418T>C)
c.2792T>C (p.Met931Thr)
c.3569T>C (p.Met1190Thr)
c.3457T>C (p.Trp1153Arg)
n.3538T>C
c.3233T>C (p.Met1078Thr)
c.3644T>C (p.Met1215Thr)
c.*3286T>C (n.*3286T>C)
n.3669T>C
c.151+6885T>C (n.151+6885T>C)
c.789T>C (n.789T>C)
c.1100T>C (p.Met367Thr)
c.3566T>C (p.Met1189Thr)
c.656-645T>C (n.656-645T>C)
c.3497T>C (p.Met1166Thr)
c.3560T>C (p.Met1187Thr)
c.3548T>C (p.Met1183Thr)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.144389527A>TCA348698908ZEB2c.*3418T>A (n.*3418T>A)
c.2792T>A (p.Met931Lys)
c.3569T>A (p.Met1190Lys)
c.3457T>A (p.Trp1153Arg)
n.3538T>A
c.3233T>A (p.Met1078Lys)
c.3644T>A (p.Met1215Lys)
c.*3286T>A (n.*3286T>A)
n.3669T>A
c.151+6885T>A (n.151+6885T>A)
c.789T>A (n.789T>A)
c.1100T>A (p.Met367Lys)
c.3566T>A (p.Met1189Lys)
c.656-645T>A (n.656-645T>A)
c.3497T>A (p.Met1166Lys)
c.3560T>A (p.Met1187Lys)
c.3548T>A (p.Met1183Lys)
2g.144389528T>ACA348698912ZEB2c.*3417A>T (n.*3417A>T)
c.2791A>T (p.Met931Leu)
c.3568A>T (p.Met1190Leu)
c.3456A>T (p.Pro1152=)
n.3537A>T
c.3232A>T (p.Met1078Leu)
c.3643A>T (p.Met1215Leu)
c.*3285A>T (n.*3285A>T)
n.3668A>T
c.151+6884A>T (n.151+6884A>T)
c.788A>T (n.788A>T)
c.1099A>T (p.Met367Leu)
c.3565A>T (p.Met1189Leu)
c.656-646A>T (n.656-646A>T)
c.3496A>T (p.Met1166Leu)
c.3559A>T (p.Met1187Leu)
c.3547A>T (p.Met1183Leu)
2g.144389528T>CCA348698914ZEB2c.*3417A>G (n.*3417A>G)
c.2791A>G (p.Met931Val)
c.3568A>G (p.Met1190Val)
c.3456A>G (p.Pro1152=)
n.3537A>G
c.3232A>G (p.Met1078Val)
c.3643A>G (p.Met1215Val)
c.*3285A>G (n.*3285A>G)
n.3668A>G
c.151+6884A>G (n.151+6884A>G)
c.788A>G (n.788A>G)
c.1099A>G (p.Met367Val)
c.3565A>G (p.Met1189Val)
c.656-646A>G (n.656-646A>G)
c.3496A>G (p.Met1166Val)
c.3559A>G (p.Met1187Val)
c.3547A>G (p.Met1183Val)
gnomAD v4
2g.144389528T>GCA348698915ZEB2c.*3417A>C (n.*3417A>C)
c.2791A>C (p.Met931Leu)
c.3568A>C (p.Met1190Leu)
c.3456A>C (p.Pro1152=)
n.3537A>C
c.3232A>C (p.Met1078Leu)
c.3643A>C (p.Met1215Leu)
c.*3285A>C (n.*3285A>C)
n.3668A>C
c.151+6884A>C (n.151+6884A>C)
c.788A>C (n.788A>C)
c.1099A>C (p.Met367Leu)
c.3565A>C (p.Met1189Leu)
c.656-646A>C (n.656-646A>C)
c.3496A>C (p.Met1166Leu)
c.3559A>C (p.Met1187Leu)
c.3547A>C (p.Met1183Leu)
2g.144389528T=CA1294881236ZEB2c.*3417A= (n.*3417A=)
c.2791A= (p.Met931=)
c.3568A= (p.Met1190=)
c.3456A= (p.Pro1152=)
n.3537A=
c.3232A= (p.Met1078=)
c.3643A= (p.Met1215=)
c.*3285A= (n.*3285A=)
n.3668A=
c.151+6884A= (n.151+6884A=)
c.788A= (n.788A=)
c.1099A= (p.Met367=)
c.3565A= (p.Met1189=)
c.656-646A= (n.656-646A=)
c.3496A= (p.Met1166=)
c.3559A= (p.Met1187=)
c.3547A= (p.Met1183=)
2g.144389529G>ACA429441061ZEB2c.*3416C>T (n.*3416C>T)
c.2790C>T (p.Ser930=)
c.3567C>T (p.Ser1189=)
c.3455C>T (p.Pro1152Leu)
n.3536C>T
c.3231C>T (p.Ser1077=)
c.3642C>T (p.Ser1214=)
c.*3284C>T (n.*3284C>T)
n.3667C>T
c.151+6883C>T (n.151+6883C>T)
c.787C>T (n.787C>T)
c.1098C>T (p.Ser366=)
c.3564C>T (p.Ser1188=)
c.656-647C>T (n.656-647C>T)
c.3495C>T (p.Ser1165=)
c.3558C>T (p.Ser1186=)
c.3546C>T (p.Ser1182=)
2g.144389529G>CCA429441062ZEB2c.*3416C>G (n.*3416C>G)
c.2790C>G (p.Ser930=)
c.3567C>G (p.Ser1189=)
c.3455C>G (p.Pro1152Arg)
n.3536C>G
c.3231C>G (p.Ser1077=)
c.3642C>G (p.Ser1214=)
c.*3284C>G (n.*3284C>G)
n.3667C>G
c.151+6883C>G (n.151+6883C>G)
c.787C>G (n.787C>G)
c.1098C>G (p.Ser366=)
c.3564C>G (p.Ser1188=)
c.656-647C>G (n.656-647C>G)
c.3495C>G (p.Ser1165=)
c.3558C>G (p.Ser1186=)
c.3546C>G (p.Ser1182=)
2g.144389529G=CA1294881237ZEB2c.*3416C= (n.*3416C=)
c.2790C= (p.Ser930=)
c.3567C= (p.Ser1189=)
c.3455C= (p.Pro1152=)
n.3536C=
c.3231C= (p.Ser1077=)
c.3642C= (p.Ser1214=)
c.*3284C= (n.*3284C=)
n.3667C=
c.151+6883C= (n.151+6883C=)
c.787C= (n.787C=)
c.1098C= (p.Ser366=)
c.3564C= (p.Ser1188=)
c.656-647C= (n.656-647C=)
c.3495C= (p.Ser1165=)
c.3558C= (p.Ser1186=)
c.3546C= (p.Ser1182=)
2g.144389529G>TCA429441063ZEB2c.*3416C>A (n.*3416C>A)
c.2790C>A (p.Ser930=)
c.3567C>A (p.Ser1189=)
c.3455C>A (p.Pro1152Gln)
n.3536C>A
c.3231C>A (p.Ser1077=)
c.3642C>A (p.Ser1214=)
c.*3284C>A (n.*3284C>A)
n.3667C>A
c.151+6883C>A (n.151+6883C>A)
c.787C>A (n.787C>A)
c.1098C>A (p.Ser366=)
c.3564C>A (p.Ser1188=)
c.656-647C>A (n.656-647C>A)
c.3495C>A (p.Ser1165=)
c.3558C>A (p.Ser1186=)
c.3546C>A (p.Ser1182=)
dbSNP gnomAD v3 gnomAD v4
2g.144389529_144389530dupCA253285ZEB2c.*3415_*3416dup (n.*3415_*3416dup)
c.2789_2790dup (p.Met931ProfsTer?)
c.3566_3567dup (p.Met1190ProfsTer?)
c.3454_3455dup (p.Trp1153HisfsTer4)
n.3535_3536dup
c.3230_3231dup (p.Met1078ProfsTer?)
c.3641_3642dup (p.Met1215ProfsTer?)
c.*3283_*3284dup (n.*3283_*3284dup)
n.3666_3667dup
c.151+6882_151+6883dup (n.151+6882_151+6883dup)
c.786_787dup (n.786_787dup)
c.1097_1098dup (p.Met367ProfsTer?)
c.3563_3564dup (p.Met1189ProfsTer?)
c.656-648_656-647dup (n.656-648_656-647dup)
c.3494_3495dup (p.Met1166ProfsTer?)
c.3557_3558dup (p.Met1187ProfsTer?)
c.3545_3546dup (p.Met1183ProfsTer?)
ClinVar dbSNP
2g.144389530G>ACA348698917ZEB2c.*3415C>T (n.*3415C>T)
c.2789C>T (p.Ser930Phe)
c.3566C>T (p.Ser1189Phe)
c.3454C>T (p.Pro1152Ser)
n.3535C>T
c.3230C>T (p.Ser1077Phe)
c.3641C>T (p.Ser1214Phe)
c.*3283C>T (n.*3283C>T)
n.3666C>T
c.151+6882C>T (n.151+6882C>T)
c.786C>T (n.786C>T)
c.1097C>T (p.Ser366Phe)
c.3563C>T (p.Ser1188Phe)
c.656-648C>T (n.656-648C>T)
c.3494C>T (p.Ser1165Phe)
c.3557C>T (p.Ser1186Phe)
c.3545C>T (p.Ser1182Phe)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.144389530G>CCA348698919ZEB2c.*3415C>G (n.*3415C>G)
c.2789C>G (p.Ser930Cys)
c.3566C>G (p.Ser1189Cys)
c.3454C>G (p.Pro1152Ala)
n.3535C>G
c.3230C>G (p.Ser1077Cys)
c.3641C>G (p.Ser1214Cys)
c.*3283C>G (n.*3283C>G)
n.3666C>G
c.151+6882C>G (n.151+6882C>G)
c.786C>G (n.786C>G)
c.1097C>G (p.Ser366Cys)
c.3563C>G (p.Ser1188Cys)
c.656-648C>G (n.656-648C>G)
c.3494C>G (p.Ser1165Cys)
c.3557C>G (p.Ser1186Cys)
c.3545C>G (p.Ser1182Cys)
2g.144389530G=CA1294881238ZEB2c.*3415C= (n.*3415C=)
c.2789C= (p.Ser930=)
c.3566C= (p.Ser1189=)
c.3454C= (p.Pro1152=)
n.3535C=
c.3230C= (p.Ser1077=)
c.3641C= (p.Ser1214=)
c.*3283C= (n.*3283C=)
n.3666C=
c.151+6882C= (n.151+6882C=)
c.786C= (n.786C=)
c.1097C= (p.Ser366=)
c.3563C= (p.Ser1188=)
c.656-648C= (n.656-648C=)
c.3494C= (p.Ser1165=)
c.3557C= (p.Ser1186=)
c.3545C= (p.Ser1182=)
2g.144389530G>TCA348698920ZEB2c.*3415C>A (n.*3415C>A)
c.2789C>A (p.Ser930Tyr)
c.3566C>A (p.Ser1189Tyr)
c.3454C>A (p.Pro1152Thr)
n.3535C>A
c.3230C>A (p.Ser1077Tyr)
c.3641C>A (p.Ser1214Tyr)
c.*3283C>A (n.*3283C>A)
n.3666C>A
c.151+6882C>A (n.151+6882C>A)
c.786C>A (n.786C>A)
c.1097C>A (p.Ser366Tyr)
c.3563C>A (p.Ser1188Tyr)
c.656-648C>A (n.656-648C>A)
c.3494C>A (p.Ser1165Tyr)
c.3557C>A (p.Ser1186Tyr)
c.3545C>A (p.Ser1182Tyr)
2g.144389531A>CCA348698922ZEB2c.*3414T>G (n.*3414T>G)
c.2788T>G (p.Ser930Ala)
c.3565T>G (p.Ser1189Ala)
c.3453T>G (p.Thr1151=)
n.3534T>G
c.3229T>G (p.Ser1077Ala)
c.3640T>G (p.Ser1214Ala)
c.*3282T>G (n.*3282T>G)
n.3665T>G
c.151+6881T>G (n.151+6881T>G)
c.785T>G (n.785T>G)
c.1096T>G (p.Ser366Ala)
c.3562T>G (p.Ser1188Ala)
c.656-649T>G (n.656-649T>G)
c.3493T>G (p.Ser1165Ala)
c.3556T>G (p.Ser1186Ala)
c.3544T>G (p.Ser1182Ala)
2g.144389531A>GCA348698923ZEB2c.*3414T>C (n.*3414T>C)
c.2788T>C (p.Ser930Pro)
c.3565T>C (p.Ser1189Pro)
c.3453T>C (p.Thr1151=)
n.3534T>C
c.3229T>C (p.Ser1077Pro)
c.3640T>C (p.Ser1214Pro)
c.*3282T>C (n.*3282T>C)
n.3665T>C
c.151+6881T>C (n.151+6881T>C)
c.785T>C (n.785T>C)
c.1096T>C (p.Ser366Pro)
c.3562T>C (p.Ser1188Pro)
c.656-649T>C (n.656-649T>C)
c.3493T>C (p.Ser1165Pro)
c.3556T>C (p.Ser1186Pro)
c.3544T>C (p.Ser1182Pro)
gnomAD v4
2g.144389531A>TCA348698926ZEB2c.*3414T>A (n.*3414T>A)
c.2788T>A (p.Ser930Thr)
c.3565T>A (p.Ser1189Thr)
c.3453T>A (p.Thr1151=)
n.3534T>A
c.3229T>A (p.Ser1077Thr)
c.3640T>A (p.Ser1214Thr)
c.*3282T>A (n.*3282T>A)
n.3665T>A
c.151+6881T>A (n.151+6881T>A)
c.785T>A (n.785T>A)
c.1096T>A (p.Ser366Thr)
c.3562T>A (p.Ser1188Thr)
c.656-649T>A (n.656-649T>A)
c.3493T>A (p.Ser1165Thr)
c.3556T>A (p.Ser1186Thr)
c.3544T>A (p.Ser1182Thr)
2g.144389532G>ACA429441064ZEB2c.*3413C>T (n.*3413C>T)
c.2787C>T (p.His929=)
c.3564C>T (p.His1188=)
c.3452C>T (p.Thr1151Ile)
n.3533C>T
c.3228C>T (p.His1076=)
c.3639C>T (p.His1213=)
c.*3281C>T (n.*3281C>T)
n.3664C>T
c.151+6880C>T (n.151+6880C>T)
c.784C>T (n.784C>T)
c.1095C>T (p.His365=)
c.3561C>T (p.His1187=)
c.656-650C>T (n.656-650C>T)
c.3492C>T (p.His1164=)
c.3555C>T (p.His1185=)
c.3543C>T (p.His1181=)
ClinVar dbSNP gnomAD v4
2g.144389532G>CCA348698930ZEB2c.*3413C>G (n.*3413C>G)
c.2787C>G (p.His929Gln)
c.3564C>G (p.His1188Gln)
c.3452C>G (p.Thr1151Ser)
n.3533C>G
c.3228C>G (p.His1076Gln)
c.3639C>G (p.His1213Gln)
c.*3281C>G (n.*3281C>G)
n.3664C>G
c.151+6880C>G (n.151+6880C>G)
c.784C>G (n.784C>G)
c.1095C>G (p.His365Gln)
c.3561C>G (p.His1187Gln)
c.656-650C>G (n.656-650C>G)
c.3492C>G (p.His1164Gln)
c.3555C>G (p.His1185Gln)
c.3543C>G (p.His1181Gln)
2g.144389532G=CA1294881239ZEB2c.*3413C= (n.*3413C=)
c.2787C= (p.His929=)
c.3564C= (p.His1188=)
c.3452C= (p.Thr1151=)
n.3533C=
c.3228C= (p.His1076=)
c.3639C= (p.His1213=)
c.*3281C= (n.*3281C=)
n.3664C=
c.151+6880C= (n.151+6880C=)
c.784C= (n.784C=)
c.1095C= (p.His365=)
c.3561C= (p.His1187=)
c.656-650C= (n.656-650C=)
c.3492C= (p.His1164=)
c.3555C= (p.His1185=)
c.3543C= (p.His1181=)
2g.144389532G>TCA348698932ZEB2c.*3413C>A (n.*3413C>A)
c.2787C>A (p.His929Gln)
c.3564C>A (p.His1188Gln)
c.3452C>A (p.Thr1151Asn)
n.3533C>A
c.3228C>A (p.His1076Gln)
c.3639C>A (p.His1213Gln)
c.*3281C>A (n.*3281C>A)
n.3664C>A
c.151+6880C>A (n.151+6880C>A)
c.784C>A (n.784C>A)
c.1095C>A (p.His365Gln)
c.3561C>A (p.His1187Gln)
c.656-650C>A (n.656-650C>A)
c.3492C>A (p.His1164Gln)
c.3555C>A (p.His1185Gln)
c.3543C>A (p.His1181Gln)
2g.144389533T>ACA348698935ZEB2c.*3412A>T (n.*3412A>T)
c.2786A>T (p.His929Leu)
c.3563A>T (p.His1188Leu)
c.3451A>T (p.Thr1151Ser)
n.3532A>T
c.3227A>T (p.His1076Leu)
c.3638A>T (p.His1213Leu)
c.*3280A>T (n.*3280A>T)
n.3663A>T
c.151+6879A>T (n.151+6879A>T)
c.783A>T (n.783A>T)
c.1094A>T (p.His365Leu)
c.3560A>T (p.His1187Leu)
c.656-651A>T (n.656-651A>T)
c.3491A>T (p.His1164Leu)
c.3554A>T (p.His1185Leu)
c.3542A>T (p.His1181Leu)
2g.144389533T>CCA297574ZEB2c.*3412A>G (n.*3412A>G)
c.2786A>G (p.His929Arg)
c.3563A>G (p.His1188Arg)
c.3451A>G (p.Thr1151Ala)
n.3532A>G
c.3227A>G (p.His1076Arg)
c.3638A>G (p.His1213Arg)
c.*3280A>G (n.*3280A>G)
n.3663A>G
c.151+6879A>G (n.151+6879A>G)
c.783A>G (n.783A>G)
c.1094A>G (p.His365Arg)
c.3560A>G (p.His1187Arg)
c.656-651A>G (n.656-651A>G)
c.3491A>G (p.His1164Arg)
c.3554A>G (p.His1185Arg)
c.3542A>G (p.His1181Arg)
ClinVar dbSNP gnomAD v4
2g.144389533T>GCA348698933ZEB2c.*3412A>C (n.*3412A>C)
c.2786A>C (p.His929Pro)
c.3563A>C (p.His1188Pro)
c.3451A>C (p.Thr1151Pro)
n.3532A>C
c.3227A>C (p.His1076Pro)
c.3638A>C (p.His1213Pro)
c.*3280A>C (n.*3280A>C)
n.3663A>C
c.151+6879A>C (n.151+6879A>C)
c.783A>C (n.783A>C)
c.1094A>C (p.His365Pro)
c.3560A>C (p.His1187Pro)
c.656-651A>C (n.656-651A>C)
c.3491A>C (p.His1164Pro)
c.3554A>C (p.His1185Pro)
c.3542A>C (p.His1181Pro)
2g.144389533T=CA1294881240ZEB2c.*3412A= (n.*3412A=)
c.2786A= (p.His929=)
c.3563A= (p.His1188=)
c.3451A= (p.Thr1151=)
n.3532A=
c.3227A= (p.His1076=)
c.3638A= (p.His1213=)
c.*3280A= (n.*3280A=)
n.3663A=
c.151+6879A= (n.151+6879A=)
c.783A= (n.783A=)
c.1094A= (p.His365=)
c.3560A= (p.His1187=)
c.656-651A= (n.656-651A=)
c.3491A= (p.His1164=)
c.3554A= (p.His1185=)
c.3542A= (p.His1181=)
2g.144389534G>ACA348698938ZEB2c.*3411C>T (n.*3411C>T)
c.2785C>T (p.His929Tyr)
c.3562C>T (p.His1188Tyr)
c.3450C>T (p.Ile1150=)
n.3531C>T
c.3226C>T (p.His1076Tyr)
c.3637C>T (p.His1213Tyr)
c.*3279C>T (n.*3279C>T)
n.3662C>T
c.151+6878C>T (n.151+6878C>T)
c.782C>T (n.782C>T)
c.1093C>T (p.His365Tyr)
c.3559C>T (p.His1187Tyr)
c.656-652C>T (n.656-652C>T)
c.3490C>T (p.His1164Tyr)
c.3553C>T (p.His1185Tyr)
c.3541C>T (p.His1181Tyr)
COSMIC
2g.144389534G>CCA348698940ZEB2c.*3411C>G (n.*3411C>G)
c.2785C>G (p.His929Asp)
c.3562C>G (p.His1188Asp)
c.3450C>G (p.Ile1150Met)
n.3531C>G
c.3226C>G (p.His1076Asp)
c.3637C>G (p.His1213Asp)
c.*3279C>G (n.*3279C>G)
n.3662C>G
c.151+6878C>G (n.151+6878C>G)
c.782C>G (n.782C>G)
c.1093C>G (p.His365Asp)
c.3559C>G (p.His1187Asp)
c.656-652C>G (n.656-652C>G)
c.3490C>G (p.His1164Asp)
c.3553C>G (p.His1185Asp)
c.3541C>G (p.His1181Asp)
gnomAD v3 gnomAD v4
2g.144389534G>TCA348698946ZEB2c.*3411C>A (n.*3411C>A)
c.2785C>A (p.His929Asn)
c.3562C>A (p.His1188Asn)
c.3450C>A (p.Ile1150=)
n.3531C>A
c.3226C>A (p.His1076Asn)
c.3637C>A (p.His1213Asn)
c.*3279C>A (n.*3279C>A)
n.3662C>A
c.151+6878C>A (n.151+6878C>A)
c.782C>A (n.782C>A)
c.1093C>A (p.His365Asn)
c.3559C>A (p.His1187Asn)
c.656-652C>A (n.656-652C>A)
c.3490C>A (p.His1164Asn)
c.3553C>A (p.His1185Asn)
c.3541C>A (p.His1181Asn)
2g.144389535A>CCA348698949ZEB2c.*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)
2g.144389535A>GCA429441065ZEB2c.*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
2g.144389535A>TCA348698951ZEB2c.*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)
2g.144389536T>ACA348698952ZEB2c.*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)
2g.144389536T>CCA348698954ZEB2c.*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)
2g.144389536T>GCA348698957ZEB2c.*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)
2g.144389537C>ACA348698958ZEB2c.*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)
2g.144389537C>GCA348698959ZEB2c.*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)
2g.144389537C>TCA348698960ZEB2c.*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)
2g.144389538T>ACA429441066ZEB2c.*3407A>T (n.*3407A>T)
c.2781A>T (p.Gly927=)
c.3558A>T (p.Gly1186=)
c.3446A>T (p.Glu1149Val)
n.3527A>T
c.3222A>T (p.Gly1074=)
c.3633A>T (p.Gly1211=)
c.*3275A>T (n.*3275A>T)
n.3658A>T
c.151+6874A>T (n.151+6874A>T)
c.778A>T (n.778A>T)
c.1089A>T (p.Gly363=)
c.3555A>T (p.Gly1185=)
c.656-656A>T (n.656-656A>T)
c.3486A>T (p.Gly1162=)
c.3549A>T (p.Gly1183=)
c.3537A>T (p.Gly1179=)
2g.144389538T>CCA429441067ZEB2c.*3407A>G (n.*3407A>G)
c.2781A>G (p.Gly927=)
c.3558A>G (p.Gly1186=)
c.3446A>G (p.Glu1149Gly)
n.3527A>G
c.3222A>G (p.Gly1074=)
c.3633A>G (p.Gly1211=)
c.*3275A>G (n.*3275A>G)
n.3658A>G
c.151+6874A>G (n.151+6874A>G)
c.778A>G (n.778A>G)
c.1089A>G (p.Gly363=)
c.3555A>G (p.Gly1185=)
c.656-656A>G (n.656-656A>G)
c.3486A>G (p.Gly1162=)
c.3549A>G (p.Gly1183=)
c.3537A>G (p.Gly1179=)
2g.144389538T>GCA429441068ZEB2c.*3407A>C (n.*3407A>C)
c.2781A>C (p.Gly927=)
c.3558A>C (p.Gly1186=)
c.3446A>C (p.Glu1149Ala)
n.3527A>C
c.3222A>C (p.Gly1074=)
c.3633A>C (p.Gly1211=)
c.*3275A>C (n.*3275A>C)
n.3658A>C
c.151+6874A>C (n.151+6874A>C)
c.778A>C (n.778A>C)
c.1089A>C (p.Gly363=)
c.3555A>C (p.Gly1185=)
c.656-656A>C (n.656-656A>C)
c.3486A>C (p.Gly1162=)
c.3549A>C (p.Gly1183=)
c.3537A>C (p.Gly1179=)
2g.144389539C>ACA1898103ZEB2c.*3406G>T (n.*3406G>T)
c.2780G>T (p.Gly927Val)
c.3557G>T (p.Gly1186Val)
c.3445G>T (p.Glu1149Ter)
n.3526G>T
c.3221G>T (p.Gly1074Val)
c.3632G>T (p.Gly1211Val)
c.*3274G>T (n.*3274G>T)
n.3657G>T
c.151+6873G>T (n.151+6873G>T)
c.777G>T (n.777G>T)
c.1088G>T (p.Gly363Val)
c.3554G>T (p.Gly1185Val)
c.656-657G>T (n.656-657G>T)
c.3485G>T (p.Gly1162Val)
c.3548G>T (p.Gly1183Val)
c.3536G>T (p.Gly1179Val)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.144389539C=CA1294881241ZEB2c.*3406G= (n.*3406G=)
c.2780G= (p.Gly927=)
c.3557G= (p.Gly1186=)
c.3445G= (p.Glu1149=)
n.3526G=
c.3221G= (p.Gly1074=)
c.3632G= (p.Gly1211=)
c.*3274G= (n.*3274G=)
n.3657G=
c.151+6873G= (n.151+6873G=)
c.777G= (n.777G=)
c.1088G= (p.Gly363=)
c.3554G= (p.Gly1185=)
c.656-657G= (n.656-657G=)
c.3485G= (p.Gly1162=)
c.3548G= (p.Gly1183=)
c.3536G= (p.Gly1179=)
2g.144389539C>GCA348698966ZEB2c.*3406G>C (n.*3406G>C)
c.2780G>C (p.Gly927Ala)
c.3557G>C (p.Gly1186Ala)
c.3445G>C (p.Glu1149Gln)
n.3526G>C
c.3221G>C (p.Gly1074Ala)
c.3632G>C (p.Gly1211Ala)
c.*3274G>C (n.*3274G>C)
n.3657G>C
c.151+6873G>C (n.151+6873G>C)
c.777G>C (n.777G>C)
c.1088G>C (p.Gly363Ala)
c.3554G>C (p.Gly1185Ala)
c.656-657G>C (n.656-657G>C)
c.3485G>C (p.Gly1162Ala)
c.3548G>C (p.Gly1183Ala)
c.3536G>C (p.Gly1179Ala)
ClinVar dbSNP
2g.144389539C>TCA348698962ZEB2c.*3406G>A (n.*3406G>A)
c.2780G>A (p.Gly927Glu)
c.3557G>A (p.Gly1186Glu)
c.3445G>A (p.Glu1149Lys)
n.3526G>A
c.3221G>A (p.Gly1074Glu)
c.3632G>A (p.Gly1211Glu)
c.*3274G>A (n.*3274G>A)
n.3657G>A
c.151+6873G>A (n.151+6873G>A)
c.777G>A (n.777G>A)
c.1088G>A (p.Gly363Glu)
c.3554G>A (p.Gly1185Glu)
c.656-657G>A (n.656-657G>A)
c.3485G>A (p.Gly1162Glu)
c.3548G>A (p.Gly1183Glu)
c.3536G>A (p.Gly1179Glu)
2g.144389540C>ACA348698969ZEB2c.*3405G>T (n.*3405G>T)
c.2779G>T (p.Gly927Ter)
c.3556G>T (p.Gly1186Ter)
c.3444G>T (p.Leu1148=)
n.3525G>T
c.3220G>T (p.Gly1074Ter)
c.3631G>T (p.Gly1211Ter)
c.*3273G>T (n.*3273G>T)
n.3656G>T
c.151+6872G>T (n.151+6872G>T)
c.776G>T (n.776G>T)
c.1087G>T (p.Gly363Ter)
c.3553G>T (p.Gly1185Ter)
c.656-658G>T (n.656-658G>T)
c.3484G>T (p.Gly1162Ter)
c.3547G>T (p.Gly1183Ter)
c.3535G>T (p.Gly1179Ter)
2g.144389540C>GCA348698976ZEB2c.*3405G>C (n.*3405G>C)
c.2779G>C (p.Gly927Arg)
c.3556G>C (p.Gly1186Arg)
c.3444G>C (p.Leu1148=)
n.3525G>C
c.3220G>C (p.Gly1074Arg)
c.3631G>C (p.Gly1211Arg)
c.*3273G>C (n.*3273G>C)
n.3656G>C
c.151+6872G>C (n.151+6872G>C)
c.776G>C (n.776G>C)
c.1087G>C (p.Gly363Arg)
c.3553G>C (p.Gly1185Arg)
c.656-658G>C (n.656-658G>C)
c.3484G>C (p.Gly1162Arg)
c.3547G>C (p.Gly1183Arg)
c.3535G>C (p.Gly1179Arg)
2g.144389540C>TCA348698978ZEB2c.*3405G>A (n.*3405G>A)
c.2779G>A (p.Gly927Arg)
c.3556G>A (p.Gly1186Arg)
c.3444G>A (p.Leu1148=)
n.3525G>A
c.3220G>A (p.Gly1074Arg)
c.3631G>A (p.Gly1211Arg)
c.*3273G>A (n.*3273G>A)
n.3656G>A
c.151+6872G>A (n.151+6872G>A)
c.776G>A (n.776G>A)
c.1087G>A (p.Gly363Arg)
c.3553G>A (p.Gly1185Arg)
c.656-658G>A (n.656-658G>A)
c.3484G>A (p.Gly1162Arg)
c.3547G>A (p.Gly1183Arg)
c.3535G>A (p.Gly1179Arg)
2g.144389541A>CCA429441069ZEB2c.*3404T>G (n.*3404T>G)
c.2778T>G (p.Thr926=)
c.3555T>G (p.Thr1185=)
c.3443T>G (p.Leu1148Arg)
n.3524T>G
c.3219T>G (p.Thr1073=)
c.3630T>G (p.Thr1210=)
c.*3272T>G (n.*3272T>G)
n.3655T>G
c.151+6871T>G (n.151+6871T>G)
c.775T>G (n.775T>G)
c.1086T>G (p.Thr362=)
c.3552T>G (p.Thr1184=)
c.656-659T>G (n.656-659T>G)
c.3483T>G (p.Thr1161=)
c.3546T>G (p.Thr1182=)
c.3534T>G (p.Thr1178=)
2g.144389541A>GCA429441070ZEB2c.*3404T>C (n.*3404T>C)
c.2778T>C (p.Thr926=)
c.3555T>C (p.Thr1185=)
c.3443T>C (p.Leu1148Pro)
n.3524T>C
c.3219T>C (p.Thr1073=)
c.3630T>C (p.Thr1210=)
c.*3272T>C (n.*3272T>C)
n.3655T>C
c.151+6871T>C (n.151+6871T>C)
c.775T>C (n.775T>C)
c.1086T>C (p.Thr362=)
c.3552T>C (p.Thr1184=)
c.656-659T>C (n.656-659T>C)
c.3483T>C (p.Thr1161=)
c.3546T>C (p.Thr1182=)
c.3534T>C (p.Thr1178=)
gnomAD v4
2g.144389541A>TCA429441071ZEB2c.*3404T>A (n.*3404T>A)
c.2778T>A (p.Thr926=)
c.3555T>A (p.Thr1185=)
c.3443T>A (p.Leu1148Gln)
n.3524T>A
c.3219T>A (p.Thr1073=)
c.3630T>A (p.Thr1210=)
c.*3272T>A (n.*3272T>A)
n.3655T>A
c.151+6871T>A (n.151+6871T>A)
c.775T>A (n.775T>A)
c.1086T>A (p.Thr362=)
c.3552T>A (p.Thr1184=)
c.656-659T>A (n.656-659T>A)
c.3483T>A (p.Thr1161=)
c.3546T>A (p.Thr1182=)
c.3534T>A (p.Thr1178=)
2g.144389542G>ACA348698981ZEB2c.*3403C>T (n.*3403C>T)
c.2777C>T (p.Thr926Ile)
c.3554C>T (p.Thr1185Ile)
c.3442C>T (p.Leu1148=)
n.3523C>T
c.3218C>T (p.Thr1073Ile)
c.3629C>T (p.Thr1210Ile)
c.*3271C>T (n.*3271C>T)
n.3654C>T
c.151+6870C>T (n.151+6870C>T)
c.774C>T (n.774C>T)
c.1085C>T (p.Thr362Ile)
c.3551C>T (p.Thr1184Ile)
c.656-660C>T (n.656-660C>T)
c.3482C>T (p.Thr1161Ile)
c.3545C>T (p.Thr1182Ile)
c.3533C>T (p.Thr1178Ile)
gnomAD v4
2g.144389542G>CCA348698983ZEB2c.*3403C>G (n.*3403C>G)
c.2777C>G (p.Thr926Ser)
c.3554C>G (p.Thr1185Ser)
c.3442C>G (p.Leu1148Val)
n.3523C>G
c.3218C>G (p.Thr1073Ser)
c.3629C>G (p.Thr1210Ser)
c.*3271C>G (n.*3271C>G)
n.3654C>G
c.151+6870C>G (n.151+6870C>G)
c.774C>G (n.774C>G)
c.1085C>G (p.Thr362Ser)
c.3551C>G (p.Thr1184Ser)
c.656-660C>G (n.656-660C>G)
c.3482C>G (p.Thr1161Ser)
c.3545C>G (p.Thr1182Ser)
c.3533C>G (p.Thr1178Ser)
2g.144389542G>TCA348698985ZEB2c.*3403C>A (n.*3403C>A)
c.2777C>A (p.Thr926Asn)
c.3554C>A (p.Thr1185Asn)
c.3442C>A (p.Leu1148Met)
n.3523C>A
c.3218C>A (p.Thr1073Asn)
c.3629C>A (p.Thr1210Asn)
c.*3271C>A (n.*3271C>A)
n.3654C>A
c.151+6870C>A (n.151+6870C>A)
c.774C>A (n.774C>A)
c.1085C>A (p.Thr362Asn)
c.3551C>A (p.Thr1184Asn)
c.656-660C>A (n.656-660C>A)
c.3482C>A (p.Thr1161Asn)
c.3545C>A (p.Thr1182Asn)
c.3533C>A (p.Thr1178Asn)
2g.144389543T>ACA348698988ZEB2c.*3402A>T (n.*3402A>T)
c.2776A>T (p.Thr926Ser)
c.3553A>T (p.Thr1185Ser)
c.3441A>T (p.Arg1147Ser)
n.3522A>T
c.3217A>T (p.Thr1073Ser)
c.3628A>T (p.Thr1210Ser)
c.*3270A>T (n.*3270A>T)
n.3653A>T
c.151+6869A>T (n.151+6869A>T)
c.773A>T (n.773A>T)
c.1084A>T (p.Thr362Ser)
c.3550A>T (p.Thr1184Ser)
c.656-661A>T (n.656-661A>T)
c.3481A>T (p.Thr1161Ser)
c.3544A>T (p.Thr1182Ser)
c.3532A>T (p.Thr1178Ser)
2g.144389543T>CCA348698990ZEB2c.*3402A>G (n.*3402A>G)
c.2776A>G (p.Thr926Ala)
c.3553A>G (p.Thr1185Ala)
c.3441A>G (p.Arg1147=)
n.3522A>G
c.3217A>G (p.Thr1073Ala)
c.3628A>G (p.Thr1210Ala)
c.*3270A>G (n.*3270A>G)
n.3653A>G
c.151+6869A>G (n.151+6869A>G)
c.773A>G (n.773A>G)
c.1084A>G (p.Thr362Ala)
c.3550A>G (p.Thr1184Ala)
c.656-661A>G (n.656-661A>G)
c.3481A>G (p.Thr1161Ala)
c.3544A>G (p.Thr1182Ala)
c.3532A>G (p.Thr1178Ala)
2g.144389543T>GCA348698991ZEB2c.*3402A>C (n.*3402A>C)
c.2776A>C (p.Thr926Pro)
c.3553A>C (p.Thr1185Pro)
c.3441A>C (p.Arg1147Ser)
n.3522A>C
c.3217A>C (p.Thr1073Pro)
c.3628A>C (p.Thr1210Pro)
c.*3270A>C (n.*3270A>C)
n.3653A>C
c.151+6869A>C (n.151+6869A>C)
c.773A>C (n.773A>C)
c.1084A>C (p.Thr362Pro)
c.3550A>C (p.Thr1184Pro)
c.656-661A>C (n.656-661A>C)
c.3481A>C (p.Thr1161Pro)
c.3544A>C (p.Thr1182Pro)
c.3532A>C (p.Thr1178Pro)
COSMIC
2g.144389544C>ACA348698994ZEB2c.*3401G>T (n.*3401G>T)
c.2775G>T (p.Glu925Asp)
c.3552G>T (p.Glu1184Asp)
c.3440G>T (p.Arg1147Ile)
n.3521G>T
c.3216G>T (p.Glu1072Asp)
c.3627G>T (p.Glu1209Asp)
c.*3269G>T (n.*3269G>T)
n.3652G>T
c.151+6868G>T (n.151+6868G>T)
c.772G>T (n.772G>T)
c.1083G>T (p.Glu361Asp)
c.3549G>T (p.Glu1183Asp)
c.656-662G>T (n.656-662G>T)
c.3480G>T (p.Glu1160Asp)
c.3543G>T (p.Glu1181Asp)
c.3531G>T (p.Glu1177Asp)
2g.144389544C=CA1294881243ZEB2c.*3401G= (n.*3401G=)
c.2775G= (p.Glu925=)
c.3552G= (p.Glu1184=)
c.3440G= (p.Arg1147=)
n.3521G=
c.3216G= (p.Glu1072=)
c.3627G= (p.Glu1209=)
c.*3269G= (n.*3269G=)
n.3652G=
c.151+6868G= (n.151+6868G=)
c.772G= (n.772G=)
c.1083G= (p.Glu361=)
c.3549G= (p.Glu1183=)
c.656-662G= (n.656-662G=)
c.3480G= (p.Glu1160=)
c.3543G= (p.Glu1181=)
c.3531G= (p.Glu1177=)
2g.144389544C>GCA348698996ZEB2c.*3401G>C (n.*3401G>C)
c.2775G>C (p.Glu925Asp)
c.3552G>C (p.Glu1184Asp)
c.3440G>C (p.Arg1147Thr)
n.3521G>C
c.3216G>C (p.Glu1072Asp)
c.3627G>C (p.Glu1209Asp)
c.*3269G>C (n.*3269G>C)
n.3652G>C
c.151+6868G>C (n.151+6868G>C)
c.772G>C (n.772G>C)
c.1083G>C (p.Glu361Asp)
c.3549G>C (p.Glu1183Asp)
c.656-662G>C (n.656-662G>C)
c.3480G>C (p.Glu1160Asp)
c.3543G>C (p.Glu1181Asp)
c.3531G>C (p.Glu1177Asp)
gnomAD v4
2g.144389544C>TCA429441072ZEB2c.*3401G>A (n.*3401G>A)
c.2775G>A (p.Glu925=)
c.3552G>A (p.Glu1184=)
c.3440G>A (p.Arg1147Lys)
n.3521G>A
c.3216G>A (p.Glu1072=)
c.3627G>A (p.Glu1209=)
c.*3269G>A (n.*3269G>A)
n.3652G>A
c.151+6868G>A (n.151+6868G>A)
c.772G>A (n.772G>A)
c.1083G>A (p.Glu361=)
c.3549G>A (p.Glu1183=)
c.656-662G>A (n.656-662G>A)
c.3480G>A (p.Glu1160=)
c.3543G>A (p.Glu1181=)
c.3531G>A (p.Glu1177=)
ClinVar dbSNP gnomAD v4
2g.144389544_144389547delinsCTCTCA1294881242ZEB2c.*3398_*3401delinsAGAG (n.*3398_*3401delinsAGAG)
c.2772_2775delinsAGAG (p.Glu924=)
c.3549_3552delinsAGAG (p.Glu1183=)
c.3437_3440delinsAGAG (p.Lys1146=)
n.3518_3521delinsAGAG
c.3213_3216delinsAGAG (p.Glu1071=)
c.3624_3627delinsAGAG (p.Glu1208=)
c.*3266_*3269delinsAGAG (n.*3266_*3269delinsAGAG)
n.3649_3652delinsAGAG
c.151+6865_151+6868delinsAGAG (n.151+6865_151+6868delinsAGAG)
c.769_772delinsAGAG (n.769_772delinsAGAG)
c.1080_1083delinsAGAG (p.Glu360=)
c.3546_3549delinsAGAG (p.Glu1182=)
c.656-665_656-662delinsAGAG (n.656-665_656-662delinsAGAG)
c.3477_3480delinsAGAG (p.Glu1159=)
c.3540_3543delinsAGAG (p.Glu1180=)
c.3528_3531delinsAGAG (p.Glu1176=)
2g.144389545T>ACA348699005ZEB2c.*3400A>T (n.*3400A>T)
c.2774A>T (p.Glu925Val)
c.3551A>T (p.Glu1184Val)
c.3439A>T (p.Arg1147Ter)
n.3520A>T
c.3215A>T (p.Glu1072Val)
c.3626A>T (p.Glu1209Val)
c.*3268A>T (n.*3268A>T)
n.3651A>T
c.151+6867A>T (n.151+6867A>T)
c.771A>T (n.771A>T)
c.1082A>T (p.Glu361Val)
c.3548A>T (p.Glu1183Val)
c.656-663A>T (n.656-663A>T)
c.3479A>T (p.Glu1160Val)
c.3542A>T (p.Glu1181Val)
c.3530A>T (p.Glu1177Val)
2g.144389545T>CCA348699002ZEB2c.*3400A>G (n.*3400A>G)
c.2774A>G (p.Glu925Gly)
c.3551A>G (p.Glu1184Gly)
c.3439A>G (p.Arg1147Gly)
n.3520A>G
c.3215A>G (p.Glu1072Gly)
c.3626A>G (p.Glu1209Gly)
c.*3268A>G (n.*3268A>G)
n.3651A>G
c.151+6867A>G (n.151+6867A>G)
c.771A>G (n.771A>G)
c.1082A>G (p.Glu361Gly)
c.3548A>G (p.Glu1183Gly)
c.656-663A>G (n.656-663A>G)
c.3479A>G (p.Glu1160Gly)
c.3542A>G (p.Glu1181Gly)
c.3530A>G (p.Glu1177Gly)
2g.144389545T>GCA348699000ZEB2c.*3400A>C (n.*3400A>C)
c.2774A>C (p.Glu925Ala)
c.3551A>C (p.Glu1184Ala)
c.3439A>C (p.Arg1147=)
n.3520A>C
c.3215A>C (p.Glu1072Ala)
c.3626A>C (p.Glu1209Ala)
c.*3268A>C (n.*3268A>C)
n.3651A>C
c.151+6867A>C (n.151+6867A>C)
c.771A>C (n.771A>C)
c.1082A>C (p.Glu361Ala)
c.3548A>C (p.Glu1183Ala)
c.656-663A>C (n.656-663A>C)
c.3479A>C (p.Glu1160Ala)
c.3542A>C (p.Glu1181Ala)
c.3530A>C (p.Glu1177Ala)
2g.144389550_144389552delCA1898104ZEB2c.*3398_*3400del (n.*3398_*3400del)
c.2772_2774del (p.Glu925del)
c.3549_3551del (p.Glu1184del)
c.3437_3439del (p.Lys1146del)
n.3518_3520del
c.3213_3215del (p.Glu1072del)
c.3624_3626del (p.Glu1209del)
c.*3266_*3268del (n.*3266_*3268del)
n.3649_3651del
c.151+6865_151+6867del (n.151+6865_151+6867del)
c.769_771del (n.769_771del)
c.1080_1082del (p.Glu361del)
c.3546_3548del (p.Glu1183del)
c.656-665_656-663del (n.656-665_656-663del)
c.3477_3479del (p.Glu1160del)
c.3540_3542del (p.Glu1181del)
c.3528_3530del (p.Glu1177del)
dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
2g.144389546C>ACA348699008ZEB2c.*3399G>T (n.*3399G>T)
c.2773G>T (p.Glu925Ter)
c.3550G>T (p.Glu1184Ter)
c.3438G>T (p.Lys1146Asn)
n.3519G>T
c.3214G>T (p.Glu1072Ter)
c.3625G>T (p.Glu1209Ter)
c.*3267G>T (n.*3267G>T)
n.3650G>T
c.151+6866G>T (n.151+6866G>T)
c.770G>T (n.770G>T)
c.1081G>T (p.Glu361Ter)
c.3547G>T (p.Glu1183Ter)
c.656-664G>T (n.656-664G>T)
c.3478G>T (p.Glu1160Ter)
c.3541G>T (p.Glu1181Ter)
c.3529G>T (p.Glu1177Ter)
2g.144389546C>GCA348699010ZEB2c.*3399G>C (n.*3399G>C)
c.2773G>C (p.Glu925Gln)
c.3550G>C (p.Glu1184Gln)
c.3438G>C (p.Lys1146Asn)
n.3519G>C
c.3214G>C (p.Glu1072Gln)
c.3625G>C (p.Glu1209Gln)
c.*3267G>C (n.*3267G>C)
n.3650G>C
c.151+6866G>C (n.151+6866G>C)
c.770G>C (n.770G>C)
c.1081G>C (p.Glu361Gln)
c.3547G>C (p.Glu1183Gln)
c.656-664G>C (n.656-664G>C)
c.3478G>C (p.Glu1160Gln)
c.3541G>C (p.Glu1181Gln)
c.3529G>C (p.Glu1177Gln)
2g.144389546C>TCA348699012ZEB2c.*3399G>A (n.*3399G>A)
c.2773G>A (p.Glu925Lys)
c.3550G>A (p.Glu1184Lys)
c.3438G>A (p.Lys1146=)
n.3519G>A
c.3214G>A (p.Glu1072Lys)
c.3625G>A (p.Glu1209Lys)
c.*3267G>A (n.*3267G>A)
n.3650G>A
c.151+6866G>A (n.151+6866G>A)
c.770G>A (n.770G>A)
c.1081G>A (p.Glu361Lys)
c.3547G>A (p.Glu1183Lys)
c.656-664G>A (n.656-664G>A)
c.3478G>A (p.Glu1160Lys)
c.3541G>A (p.Glu1181Lys)
c.3529G>A (p.Glu1177Lys)
2g.144389547T>ACA348699015ZEB2c.*3398A>T (n.*3398A>T)
c.2772A>T (p.Glu924Asp)
c.3549A>T (p.Glu1183Asp)
c.3437A>T (p.Lys1146Met)
n.3518A>T
c.3213A>T (p.Glu1071Asp)
c.3624A>T (p.Glu1208Asp)
c.*3266A>T (n.*3266A>T)
n.3649A>T
c.151+6865A>T (n.151+6865A>T)
c.769A>T (n.769A>T)
c.1080A>T (p.Glu360Asp)
c.3546A>T (p.Glu1182Asp)
c.656-665A>T (n.656-665A>T)
c.3477A>T (p.Glu1159Asp)
c.3540A>T (p.Glu1180Asp)
c.3528A>T (p.Glu1176Asp)
2g.144389547T>CCA429441073ZEB2c.*3398A>G (n.*3398A>G)
c.2772A>G (p.Glu924=)
c.3549A>G (p.Glu1183=)
c.3437A>G (p.Lys1146Arg)
n.3518A>G
c.3213A>G (p.Glu1071=)
c.3624A>G (p.Glu1208=)
c.*3266A>G (n.*3266A>G)
n.3649A>G
c.151+6865A>G (n.151+6865A>G)
c.769A>G (n.769A>G)
c.1080A>G (p.Glu360=)
c.3546A>G (p.Glu1182=)
c.656-665A>G (n.656-665A>G)
c.3477A>G (p.Glu1159=)
c.3540A>G (p.Glu1180=)
c.3528A>G (p.Glu1176=)
dbSNP gnomAD v2 gnomAD v4
2g.144389547T>GCA348699017ZEB2c.*3398A>C (n.*3398A>C)
c.2772A>C (p.Glu924Asp)
c.3549A>C (p.Glu1183Asp)
c.3437A>C (p.Lys1146Thr)
n.3518A>C
c.3213A>C (p.Glu1071Asp)
c.3624A>C (p.Glu1208Asp)
c.*3266A>C (n.*3266A>C)
n.3649A>C
c.151+6865A>C (n.151+6865A>C)
c.769A>C (n.769A>C)
c.1080A>C (p.Glu360Asp)
c.3546A>C (p.Glu1182Asp)
c.656-665A>C (n.656-665A>C)
c.3477A>C (p.Glu1159Asp)
c.3540A>C (p.Glu1180Asp)
c.3528A>C (p.Glu1176Asp)
2g.144389547T=CA1294881244ZEB2c.*3398A= (n.*3398A=)
c.2772A= (p.Glu924=)
c.3549A= (p.Glu1183=)
c.3437A= (p.Lys1146=)
n.3518A=
c.3213A= (p.Glu1071=)
c.3624A= (p.Glu1208=)
c.*3266A= (n.*3266A=)
n.3649A=
c.151+6865A= (n.151+6865A=)
c.769A= (n.769A=)
c.1080A= (p.Glu360=)
c.3546A= (p.Glu1182=)
c.656-665A= (n.656-665A=)
c.3477A= (p.Glu1159=)
c.3540A= (p.Glu1180=)
c.3528A= (p.Glu1176=)
2g.144389548T>ACA348699019ZEB2c.*3397A>T (n.*3397A>T)
c.2771A>T (p.Glu924Val)
c.3548A>T (p.Glu1183Val)
c.3436A>T (p.Lys1146Ter)
n.3517A>T
c.3212A>T (p.Glu1071Val)
c.3623A>T (p.Glu1208Val)
c.*3265A>T (n.*3265A>T)
n.3648A>T
c.151+6864A>T (n.151+6864A>T)
c.768A>T (n.768A>T)
c.1079A>T (p.Glu360Val)
c.3545A>T (p.Glu1182Val)
c.656-666A>T (n.656-666A>T)
c.3476A>T (p.Glu1159Val)
c.3539A>T (p.Glu1180Val)
c.3527A>T (p.Glu1176Val)
dbSNP
2g.144389548T>CCA57549230ZEB2c.*3397A>G (n.*3397A>G)
c.2771A>G (p.Glu924Gly)
c.3548A>G (p.Glu1183Gly)
c.3436A>G (p.Lys1146Glu)
n.3517A>G
c.3212A>G (p.Glu1071Gly)
c.3623A>G (p.Glu1208Gly)
c.*3265A>G (n.*3265A>G)
n.3648A>G
c.151+6864A>G (n.151+6864A>G)
c.768A>G (n.768A>G)
c.1079A>G (p.Glu360Gly)
c.3545A>G (p.Glu1182Gly)
c.656-666A>G (n.656-666A>G)
c.3476A>G (p.Glu1159Gly)
c.3539A>G (p.Glu1180Gly)
c.3527A>G (p.Glu1176Gly)
dbSNP
2g.144389548T>GCA348699023ZEB2c.*3397A>C (n.*3397A>C)
c.2771A>C (p.Glu924Ala)
c.3548A>C (p.Glu1183Ala)
c.3436A>C (p.Lys1146Gln)
n.3517A>C
c.3212A>C (p.Glu1071Ala)
c.3623A>C (p.Glu1208Ala)
c.*3265A>C (n.*3265A>C)
n.3648A>C
c.151+6864A>C (n.151+6864A>C)
c.768A>C (n.768A>C)
c.1079A>C (p.Glu360Ala)
c.3545A>C (p.Glu1182Ala)
c.656-666A>C (n.656-666A>C)
c.3476A>C (p.Glu1159Ala)
c.3539A>C (p.Glu1180Ala)
c.3527A>C (p.Glu1176Ala)
2g.144389548T=CA1294881245ZEB2c.*3397A= (n.*3397A=)
c.2771A= (p.Glu924=)
c.3548A= (p.Glu1183=)
c.3436A= (p.Lys1146=)
n.3517A=
c.3212A= (p.Glu1071=)
c.3623A= (p.Glu1208=)
c.*3265A= (n.*3265A=)
n.3648A=
c.151+6864A= (n.151+6864A=)
c.768A= (n.768A=)
c.1079A= (p.Glu360=)
c.3545A= (p.Glu1182=)
c.656-666A= (n.656-666A=)
c.3476A= (p.Glu1159=)
c.3539A= (p.Glu1180=)
c.3527A= (p.Glu1176=)
2g.144389549C>ACA348699025ZEB2c.*3396G>T (n.*3396G>T)
c.2770G>T (p.Glu924Ter)
c.3547G>T (p.Glu1183Ter)
c.3435G>T (p.Lys1145Asn)
n.3516G>T
c.3211G>T (p.Glu1071Ter)
c.3622G>T (p.Glu1208Ter)
c.*3264G>T (n.*3264G>T)
n.3647G>T
c.151+6863G>T (n.151+6863G>T)
c.767G>T (n.767G>T)
c.1078G>T (p.Glu360Ter)
c.3544G>T (p.Glu1182Ter)
c.656-667G>T (n.656-667G>T)
c.3475G>T (p.Glu1159Ter)
c.3538G>T (p.Glu1180Ter)
c.3526G>T (p.Glu1176Ter)
2g.144389549C=CA1294881246ZEB2c.*3396G= (n.*3396G=)
c.2770G= (p.Glu924=)
c.3547G= (p.Glu1183=)
c.3435G= (p.Lys1145=)
n.3516G=
c.3211G= (p.Glu1071=)
c.3622G= (p.Glu1208=)
c.*3264G= (n.*3264G=)
n.3647G=
c.151+6863G= (n.151+6863G=)
c.767G= (n.767G=)
c.1078G= (p.Glu360=)
c.3544G= (p.Glu1182=)
c.656-667G= (n.656-667G=)
c.3475G= (p.Glu1159=)
c.3538G= (p.Glu1180=)
c.3526G= (p.Glu1176=)
2g.144389549C>GCA348699028ZEB2c.*3396G>C (n.*3396G>C)
c.2770G>C (p.Glu924Gln)
c.3547G>C (p.Glu1183Gln)
c.3435G>C (p.Lys1145Asn)
n.3516G>C
c.3211G>C (p.Glu1071Gln)
c.3622G>C (p.Glu1208Gln)
c.*3264G>C (n.*3264G>C)
n.3647G>C
c.151+6863G>C (n.151+6863G>C)
c.767G>C (n.767G>C)
c.1078G>C (p.Glu360Gln)
c.3544G>C (p.Glu1182Gln)
c.656-667G>C (n.656-667G>C)
c.3475G>C (p.Glu1159Gln)
c.3538G>C (p.Glu1180Gln)
c.3526G>C (p.Glu1176Gln)
dbSNP
2g.144389549C>TCA348699030ZEB2c.*3396G>A (n.*3396G>A)
c.2770G>A (p.Glu924Lys)
c.3547G>A (p.Glu1183Lys)
c.3435G>A (p.Lys1145=)
n.3516G>A
c.3211G>A (p.Glu1071Lys)
c.3622G>A (p.Glu1208Lys)
c.*3264G>A (n.*3264G>A)
n.3647G>A
c.151+6863G>A (n.151+6863G>A)
c.767G>A (n.767G>A)
c.1078G>A (p.Glu360Lys)
c.3544G>A (p.Glu1182Lys)
c.656-667G>A (n.656-667G>A)
c.3475G>A (p.Glu1159Lys)
c.3538G>A (p.Glu1180Lys)
c.3526G>A (p.Glu1176Lys)
COSMIC
2g.144389550T>ACA348699033ZEB2c.*3395A>T (n.*3395A>T)
c.2769A>T (p.Glu923Asp)
c.3546A>T (p.Glu1182Asp)
c.3434A>T (p.Lys1145Met)
n.3515A>T
c.3210A>T (p.Glu1070Asp)
c.3621A>T (p.Glu1207Asp)
c.*3263A>T (n.*3263A>T)
n.3646A>T
c.151+6862A>T (n.151+6862A>T)
c.766A>T (n.766A>T)
c.1077A>T (p.Glu359Asp)
c.3543A>T (p.Glu1181Asp)
c.656-668A>T (n.656-668A>T)
c.3474A>T (p.Glu1158Asp)
c.3537A>T (p.Glu1179Asp)
c.3525A>T (p.Glu1175Asp)
2g.144389550T>CCA429441074ZEB2c.*3395A>G (n.*3395A>G)
c.2769A>G (p.Glu923=)
c.3546A>G (p.Glu1182=)
c.3434A>G (p.Lys1145Arg)
n.3515A>G
c.3210A>G (p.Glu1070=)
c.3621A>G (p.Glu1207=)
c.*3263A>G (n.*3263A>G)
n.3646A>G
c.151+6862A>G (n.151+6862A>G)
c.766A>G (n.766A>G)
c.1077A>G (p.Glu359=)
c.3543A>G (p.Glu1181=)
c.656-668A>G (n.656-668A>G)
c.3474A>G (p.Glu1158=)
c.3537A>G (p.Glu1179=)
c.3525A>G (p.Glu1175=)
gnomAD v4
2g.144389550T>GCA348699034ZEB2c.*3395A>C (n.*3395A>C)
c.2769A>C (p.Glu923Asp)
c.3546A>C (p.Glu1182Asp)
c.3434A>C (p.Lys1145Thr)
n.3515A>C
c.3210A>C (p.Glu1070Asp)
c.3621A>C (p.Glu1207Asp)
c.*3263A>C (n.*3263A>C)
n.3646A>C
c.151+6862A>C (n.151+6862A>C)
c.766A>C (n.766A>C)
c.1077A>C (p.Glu359Asp)
c.3543A>C (p.Glu1181Asp)
c.656-668A>C (n.656-668A>C)
c.3474A>C (p.Glu1158Asp)
c.3537A>C (p.Glu1179Asp)
c.3525A>C (p.Glu1175Asp)
2g.144389551T>ACA348699039ZEB2c.*3394A>T (n.*3394A>T)
c.2768A>T (p.Glu923Val)
c.3545A>T (p.Glu1182Val)
c.3433A>T (p.Lys1145Ter)
n.3514A>T
c.3209A>T (p.Glu1070Val)
c.3620A>T (p.Glu1207Val)
c.*3262A>T (n.*3262A>T)
n.3645A>T
c.151+6861A>T (n.151+6861A>T)
c.765A>T (n.765A>T)
c.1076A>T (p.Glu359Val)
c.3542A>T (p.Glu1181Val)
c.656-669A>T (n.656-669A>T)
c.3473A>T (p.Glu1158Val)
c.3536A>T (p.Glu1179Val)
c.3524A>T (p.Glu1175Val)
2g.144389551T>CCA348699041ZEB2c.*3394A>G (n.*3394A>G)
c.2768A>G (p.Glu923Gly)
c.3545A>G (p.Glu1182Gly)
c.3433A>G (p.Lys1145Glu)
n.3514A>G
c.3209A>G (p.Glu1070Gly)
c.3620A>G (p.Glu1207Gly)
c.*3262A>G (n.*3262A>G)
n.3645A>G
c.151+6861A>G (n.151+6861A>G)
c.765A>G (n.765A>G)
c.1076A>G (p.Glu359Gly)
c.3542A>G (p.Glu1181Gly)
c.656-669A>G (n.656-669A>G)
c.3473A>G (p.Glu1158Gly)
c.3536A>G (p.Glu1179Gly)
c.3524A>G (p.Glu1175Gly)
2g.144389551T>GCA348699037ZEB2c.*3394A>C (n.*3394A>C)
c.2768A>C (p.Glu923Ala)
c.3545A>C (p.Glu1182Ala)
c.3433A>C (p.Lys1145Gln)
n.3514A>C
c.3209A>C (p.Glu1070Ala)
c.3620A>C (p.Glu1207Ala)
c.*3262A>C (n.*3262A>C)
n.3645A>C
c.151+6861A>C (n.151+6861A>C)
c.765A>C (n.765A>C)
c.1076A>C (p.Glu359Ala)
c.3542A>C (p.Glu1181Ala)
c.656-669A>C (n.656-669A>C)
c.3473A>C (p.Glu1158Ala)
c.3536A>C (p.Glu1179Ala)
c.3524A>C (p.Glu1175Ala)
2g.144389551_144389552delinsTCCA1294881247ZEB2c.*3393_*3394delinsGA (n.*3393_*3394delinsGA)
c.2767_2768delinsGA (p.Glu923=)
c.3544_3545delinsGA (p.Glu1182=)
c.3432_3433delinsGA (p.Met1144=)
n.3513_3514delinsGA
c.3208_3209delinsGA (p.Glu1070=)
c.3619_3620delinsGA (p.Glu1207=)
c.*3261_*3262delinsGA (n.*3261_*3262delinsGA)
n.3644_3645delinsGA
c.151+6860_151+6861delinsGA (n.151+6860_151+6861delinsGA)
c.764_765delinsGA (n.764_765delinsGA)
c.1075_1076delinsGA (p.Glu359=)
c.3541_3542delinsGA (p.Glu1181=)
c.656-670_656-669delinsGA (n.656-670_656-669delinsGA)
c.3472_3473delinsGA (p.Glu1158=)
c.3535_3536delinsGA (p.Glu1179=)
c.3523_3524delinsGA (p.Glu1175=)
2g.144389552delCA235588ZEB2c.*3393del (n.*3393del)
c.2767del (p.Glu923LysfsTer?)
c.3544del (p.Glu1182LysfsTer?)
c.3432del (p.Met1144IlefsTer12)
n.3513del
c.3208del (p.Glu1070LysfsTer?)
c.3619del (p.Glu1207LysfsTer?)
c.*3261del (n.*3261del)
n.3644del
c.151+6860del (n.151+6860del)
c.764del (n.764del)
c.1075del (p.Glu359LysfsTer?)
c.3541del (p.Glu1181LysfsTer?)
c.656-670del (n.656-670del)
c.3472del (p.Glu1158LysfsTer?)
c.3535del (p.Glu1179LysfsTer?)
c.3523del (p.Glu1175LysfsTer?)
ClinVar dbSNP
2g.144389552C>ACA348699047ZEB2c.*3393G>T (n.*3393G>T)
c.2767G>T (p.Glu923Ter)
c.3544G>T (p.Glu1182Ter)
c.3432G>T (p.Met1144Ile)
n.3513G>T
c.3208G>T (p.Glu1070Ter)
c.3619G>T (p.Glu1207Ter)
c.*3261G>T (n.*3261G>T)
n.3644G>T
c.151+6860G>T (n.151+6860G>T)
c.764G>T (n.764G>T)
c.1075G>T (p.Glu359Ter)
c.3541G>T (p.Glu1181Ter)
c.656-670G>T (n.656-670G>T)
c.3472G>T (p.Glu1158Ter)
c.3535G>T (p.Glu1179Ter)
c.3523G>T (p.Glu1175Ter)
2g.144389552C>GCA348699045ZEB2c.*3393G>C (n.*3393G>C)
c.2767G>C (p.Glu923Gln)
c.3544G>C (p.Glu1182Gln)
c.3432G>C (p.Met1144Ile)
n.3513G>C
c.3208G>C (p.Glu1070Gln)
c.3619G>C (p.Glu1207Gln)
c.*3261G>C (n.*3261G>C)
n.3644G>C
c.151+6860G>C (n.151+6860G>C)
c.764G>C (n.764G>C)
c.1075G>C (p.Glu359Gln)
c.3541G>C (p.Glu1181Gln)
c.656-670G>C (n.656-670G>C)
c.3472G>C (p.Glu1158Gln)
c.3535G>C (p.Glu1179Gln)
c.3523G>C (p.Glu1175Gln)
2g.144389552C>TCA348699050ZEB2c.*3393G>A (n.*3393G>A)
c.2767G>A (p.Glu923Lys)
c.3544G>A (p.Glu1182Lys)
c.3432G>A (p.Met1144Ile)
n.3513G>A
c.3208G>A (p.Glu1070Lys)
c.3619G>A (p.Glu1207Lys)
c.*3261G>A (n.*3261G>A)
n.3644G>A
c.151+6860G>A (n.151+6860G>A)
c.764G>A (n.764G>A)
c.1075G>A (p.Glu359Lys)
c.3541G>A (p.Glu1181Lys)
c.656-670G>A (n.656-670G>A)
c.3472G>A (p.Glu1158Lys)
c.3535G>A (p.Glu1179Lys)
c.3523G>A (p.Glu1175Lys)

Number of alleles fetched