Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.144389452T>A | CA348698537 | ZEB2 | c.*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) | |
2 | g.144389452T>C | CA429217440 | ZEB2 | c.*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=) | |
2 | g.144389452T>G | CA348698538 | ZEB2 | c.*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 |
2 | g.144389453A= | CA1294881207 | ZEB2 | c.*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=) | |
2 | g.144389453A>C | CA348698539 | ZEB2 | c.*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 |
2 | g.144389453A>G | CA57549171 | ZEB2 | c.*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 |
2 | g.144389453A>T | CA348698540 | ZEB2 | c.*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) | |
2 | g.144389454C>A | CA348698541 | ZEB2 | c.*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) | |
2 | g.144389454C>G | CA348698543 | ZEB2 | c.*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) | |
2 | g.144389454C>T | CA348698542 | ZEB2 | c.*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) | |
2 | g.144389455A= | CA1294881208 | ZEB2 | c.*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=) | |
2 | g.144389455A>C | CA348698544 | ZEB2 | c.*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) | |
2 | g.144389455A>G | CA348698546 | ZEB2 | c.*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 |
2 | g.144389455A>T | CA348698545 | ZEB2 | c.*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) | |
2 | g.144389456T>A | CA348698547 | ZEB2 | c.*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) | |
2 | g.144389456T>C | CA1898093 | ZEB2 | c.*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 |
2 | g.144389456T>G | CA348698548 | ZEB2 | c.*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) | |
2 | g.144389456T= | CA1294881209 | ZEB2 | c.*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=) | |
2 | g.144389457G>A | CA429217443 | ZEB2 | c.*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=) | |
2 | g.144389457G>C | CA429217442 | ZEB2 | c.*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=) | |
2 | g.144389457G>T | CA429217441 | ZEB2 | c.*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=) | |
2 | g.144389458C>A | CA348698549 | ZEB2 | c.*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 |
2 | g.144389458C>G | CA348698550 | ZEB2 | c.*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) | |
2 | g.144389458C>T | CA348698551 | ZEB2 | c.*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) | |
2 | g.144389459C>A | CA348698554 | ZEB2 | c.*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) | |
2 | g.144389459C= | CA1294881210 | ZEB2 | c.*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=) | |
2 | g.144389459C>G | CA348698552 | ZEB2 | c.*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) | |
2 | g.144389459C>T | CA348698553 | ZEB2 | c.*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 |
2 | g.144389460A>C | CA348698555 | ZEB2 | c.*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) | |
2 | g.144389460A>G | CA429217444 | ZEB2 | c.*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=) | |
2 | g.144389460A>T | CA348698556 | ZEB2 | c.*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) | |
2 | g.144389461T>A | CA348698557 | ZEB2 | c.*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) | |
2 | g.144389461T>C | CA1898094 | ZEB2 | c.*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 |
2 | g.144389461T>G | CA348698558 | ZEB2 | c.*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) | |
2 | g.144389461T= | CA1294881211 | ZEB2 | c.*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=) | |
2 | g.144389462C>A | CA348698559 | ZEB2 | c.*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) | |
2 | g.144389462C>G | CA348698561 | ZEB2 | c.*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) | |
2 | g.144389462C>T | CA348698560 | ZEB2 | c.*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) | |
2 | g.144389463T>A | CA348698562 | ZEB2 | c.*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) | |
2 | g.144389463T>C | CA429217447 | ZEB2 | c.*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=) | |
2 | g.144389463T>G | CA348698563 | ZEB2 | c.*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) | |
2 | g.144389464T>A | CA348698564 | ZEB2 | c.*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) | |
2 | g.144389464T>C | CA348698565 | ZEB2 | c.*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) | |
2 | g.144389464T>G | CA348698566 | ZEB2 | c.*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) | |
2 | g.144389465C>A | CA348698567 | ZEB2 | c.*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) | |
2 | g.144389465C>G | CA348698568 | ZEB2 | c.*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) | |
2 | g.144389465C>T | CA348698569 | ZEB2 | c.*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) | |
2 | g.144389466C>A | CA348698570 | ZEB2 | c.*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) | |
2 | g.144389466C>G | CA348698571 | ZEB2 | c.*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) | |
2 | g.144389466C>T | CA348698572 | ZEB2 | c.*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) | |
2 | g.144389467A= | CA1294881212 | ZEB2 | c.*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=) | |
2 | g.144389467A>C | CA348698573 | ZEB2 | c.*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) | |
2 | g.144389467A>G | CA348698575 | ZEB2 | c.*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 |
2 | g.144389467A>T | CA348698574 | ZEB2 | c.*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) | |
2 | g.144389468T>A | CA348698576 | ZEB2 | c.*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) | |
2 | g.144389468T>C | CA1898095 | ZEB2 | c.*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 |
2 | g.144389468T>G | CA348698577 | ZEB2 | c.*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) | |
2 | g.144389468T= | CA1294881213 | ZEB2 | c.*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=) | |
2 | g.144389469A= | CA1294881214 | ZEB2 | c.*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=) | |
2 | g.144389469A>C | CA348698578 | ZEB2 | c.*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) | |
2 | g.144389469A>G | CA1898096 | ZEB2 | c.*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 |
2 | g.144389469A>T | CA348698579 | ZEB2 | c.*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) | |
2 | g.144389470T>A | CA348698580 | ZEB2 | c.*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) | |
2 | g.144389470T>C | CA348698581 | ZEB2 | c.*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 |
2 | g.144389470T>G | CA348698582 | ZEB2 | c.*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) | |
2 | g.144389470T= | CA1294881215 | ZEB2 | c.*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=) | |
2 | g.144389471T>A | CA348698583 | ZEB2 | c.*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) | |
2 | g.144389471T>C | CA348698584 | ZEB2 | c.*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 |
2 | g.144389471T>G | CA348698585 | ZEB2 | c.*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) | |
2 | g.144389471T= | CA1294881216 | ZEB2 | c.*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=) | |
2 | g.144389472G>A | CA429217448 | ZEB2 | c.*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=) | |
2 | g.144389472G>C | CA348698587 | ZEB2 | c.*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) | |
2 | g.144389472G>T | CA348698586 | ZEB2 | c.*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) | |
2 | g.144389473T>A | CA348698588 | ZEB2 | c.*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) | |
2 | g.144389473T>C | CA348698589 | ZEB2 | c.*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) | |
2 | g.144389473T>G | CA348698590 | ZEB2 | c.*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) | |
2 | g.144389474C>A | CA348698591 | ZEB2 | c.*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) | |
2 | g.144389474C>G | CA348698592 | ZEB2 | c.*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) | |
2 | g.144389474C>T | CA348698593 | ZEB2 | c.*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 |
2 | g.144389475T>A | CA348698594 | ZEB2 | c.*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) | |
2 | g.144389475T>C | CA429217450 | ZEB2 | c.*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=) | |
2 | g.144389475T>G | CA348698595 | ZEB2 | c.*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) | |
2 | g.144389476T>A | CA348698596 | ZEB2 | c.*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) | |
2 | g.144389476T>C | CA348698597 | ZEB2 | c.*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 |
2 | g.144389476T>G | CA348698598 | ZEB2 | c.*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) | |
2 | g.144389476T= | CA1294881217 | ZEB2 | c.*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=) | |
2 | g.144389477C>A | CA348698601 | ZEB2 | c.*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) | |
2 | g.144389477C= | CA1294881218 | ZEB2 | c.*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=) | |
2 | g.144389477C>G | CA348698600 | ZEB2 | c.*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) | |
2 | g.144389477C>T | CA348698599 | ZEB2 | c.*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 |
2 | g.144389478C>A | CA348698602 | ZEB2 | c.*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) | |
2 | g.144389478C>G | CA348698603 | ZEB2 | c.*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) | |
2 | g.144389478C>T | CA429217451 | ZEB2 | c.*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=) | |
2 | g.144389479T>A | CA348698604 | ZEB2 | c.*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) | |
2 | g.144389479T>C | CA348698605 | ZEB2 | c.*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) | |
2 | g.144389479T>G | CA348698606 | ZEB2 | c.*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) | |
2 | g.144389480C>A | CA348698607 | ZEB2 | c.*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) | |
2 | g.144389480C= | CA1294881219 | ZEB2 | c.*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=) | |
2 | g.144389480C>G | CA348698608 | ZEB2 | c.*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) | |
2 | g.144389480C>T | CA348698609 | ZEB2 | c.*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 |
2 | g.144389481G>A | CA429217453 | ZEB2 | c.*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 |
2 | g.144389481G>C | CA348698610 | ZEB2 | c.*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) | |
2 | g.144389481G= | CA1294881220 | ZEB2 | c.*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=) | |
2 | g.144389481G>T | CA348698611 | ZEB2 | c.*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) | |
2 | g.144389482T>A | CA348698612 | ZEB2 | c.*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) | |
2 | g.144389482T>C | CA348698613 | ZEB2 | c.*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 |
2 | g.144389482T>G | CA348698614 | ZEB2 | c.*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) | |
2 | g.144389482T= | CA1294881221 | ZEB2 | c.*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=) | |
2 | g.144389484_144389488del | CA2586969973 | ZEB2 | c.*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) | |
2 | g.144389483G>A | CA348698617 | ZEB2 | c.*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) | |
2 | g.144389483G>C | CA348698615 | ZEB2 | c.*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) | |
2 | g.144389483G>T | CA348698616 | ZEB2 | c.*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) | |
2 | g.144389484G>A | CA429217454 | ZEB2 | c.*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 |
2 | g.144389484G>C | CA348698618 | ZEB2 | c.*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) | |
2 | g.144389484G= | CA1294881222 | ZEB2 | c.*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=) | |
2 | g.144389484G>T | CA348698619 | ZEB2 | c.*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 |
2 | g.144389485T>A | CA348698620 | ZEB2 | c.*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 |
2 | g.144389485T>C | CA348698621 | ZEB2 | c.*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) | |
2 | g.144389485T>G | CA348698622 | ZEB2 | c.*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) | |
2 | g.144389486C>A | CA348698623 | ZEB2 | c.*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) | |
2 | g.144389486C= | CA1294881223 | ZEB2 | c.*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=) | |
2 | g.144389486C>G | CA348698624 | ZEB2 | c.*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) | |
2 | g.144389486C>T | CA1898097 | ZEB2 | c.*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 |
2 | g.144389487T>A | CA429217457 | ZEB2 | c.*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=) | |
2 | g.144389487T>C | CA429217456 | ZEB2 | c.*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=) | |
2 | g.144389487T>G | CA429217455 | ZEB2 | c.*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=) | |
2 | g.144389488G>A | CA1898098 | ZEB2 | c.*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 |
2 | g.144389488G>C | CA348698625 | ZEB2 | c.*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) | |
2 | g.144389488G= | CA1294881224 | ZEB2 | c.*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=) | |
2 | g.144389488G>T | CA348698626 | ZEB2 | c.*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 |
2 | g.144389489A>C | CA348698628 | ZEB2 | c.*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) | |
2 | g.144389489A>G | CA348698629 | ZEB2 | c.*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) | |
2 | g.144389489A>T | CA348698627 | ZEB2 | c.*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) | |
2 | g.144389490T>A | CA348698630 | ZEB2 | c.*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) | |
2 | g.144389490T>C | CA429217458 | ZEB2 | c.*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=) | |
2 | g.144389490T>G | CA348698631 | ZEB2 | c.*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) | |
2 | g.144389491T>A | CA348698632 | ZEB2 | c.*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) | |
2 | g.144389491T>C | CA348698633 | ZEB2 | c.*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) | |
2 | g.144389491T>G | CA348698634 | ZEB2 | c.*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) | |
2 | g.144389492T>A | CA348698635 | ZEB2 | c.*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) | |
2 | g.144389492T>C | CA348698636 | ZEB2 | c.*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) | |
2 | g.144389492T>G | CA348698637 | ZEB2 | c.*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) | |
2 | g.144389493G>A | CA429217460 | ZEB2 | c.*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=) | |
2 | g.144389493G>C | CA429217461 | ZEB2 | c.*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=) | |
2 | g.144389493G>T | CA429217462 | ZEB2 | c.*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=) | |
2 | g.144389494G>A | CA348698638 | ZEB2 | c.*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) | |
2 | g.144389494G>C | CA348698639 | ZEB2 | c.*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) | |
2 | g.144389494G>T | CA348698640 | ZEB2 | c.*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) | |
2 | g.144389495T>A | CA348698641 | ZEB2 | c.*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) | |
2 | g.144389495T>C | CA348698642 | ZEB2 | c.*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) | |
2 | g.144389495T>G | CA348698643 | ZEB2 | c.*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) | |
2 | g.144389496T>A | CA348698644 | ZEB2 | c.*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) | |
2 | g.144389496T>C | CA429217463 | ZEB2 | c.*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=) | |
2 | g.144389496T>G | CA348698645 | ZEB2 | c.*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) | |
2 | g.144389497T>A | CA348698646 | ZEB2 | c.*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) | |
2 | g.144389497T>C | CA348698647 | ZEB2 | c.*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 |
2 | g.144389497T>G | CA348698648 | ZEB2 | c.*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) | |
2 | g.144389497T= | CA1294881225 | ZEB2 | c.*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=) | |
2 | g.144389498C>A | CA348698649 | ZEB2 | c.*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) | |
2 | g.144389498C>G | CA348698650 | ZEB2 | c.*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) | |
2 | g.144389498C>T | CA348698651 | ZEB2 | c.*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) | |
2 | g.144389499C>A | CA348698652 | ZEB2 | c.*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) | |
2 | g.144389499C>G | CA348698653 | ZEB2 | c.*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) | |
2 | g.144389499C>T | CA348698654 | ZEB2 | c.*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 |
2 | g.144389500A>C | CA348698655 | ZEB2 | c.*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) | |
2 | g.144389500A>G | CA348698656 | ZEB2 | c.*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) | |
2 | g.144389500A>T | CA348698657 | ZEB2 | c.*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) | |
2 | g.144389501T>A | CA348698660 | ZEB2 | c.*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 |
2 | g.144389501T>C | CA348698659 | ZEB2 | c.*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) | |
2 | g.144389501T>G | CA348698658 | ZEB2 | c.*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) | |
2 | g.144389501T= | CA1294881226 | ZEB2 | c.*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=) | |
2 | g.144389502T>A | CA348698661 | ZEB2 | c.*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) | |
2 | g.144389502T>C | CA429217464 | ZEB2 | c.*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 |
2 | g.144389502T>G | CA348698662 | ZEB2 | c.*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) | |
2 | g.144389503T>A | CA348698663 | ZEB2 | c.*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) | |
2 | g.144389503T>C | CA348698665 | ZEB2 | c.*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) | |
2 | g.144389503T>G | CA348698664 | ZEB2 | c.*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) | |
2 | g.144389504T>A | CA348698666 | ZEB2 | c.*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) | |
2 | g.144389504T>C | CA348698667 | ZEB2 | c.*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) | |
2 | g.144389504T>G | CA348698668 | ZEB2 | c.*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) | |
2 | g.144389505C>A | CA429217467 | ZEB2 | c.*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=) | |
2 | g.144389505C= | CA1294881227 | ZEB2 | c.*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=) | |
2 | g.144389505C>G | CA429217465 | ZEB2 | c.*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=) | |
2 | g.144389505C>T | CA429217466 | ZEB2 | c.*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 |
2 | g.144389506C>A | CA348698669 | ZEB2 | c.*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) | |
2 | g.144389506C>G | CA348698670 | ZEB2 | c.*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 |
2 | g.144389506C>T | CA348698671 | ZEB2 | c.*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) | |
2 | g.144389507C>A | CA348698806 | ZEB2 | c.*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) | |
2 | g.144389507C>G | CA348698809 | ZEB2 | c.*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) | |
2 | g.144389507C>T | CA348698810 | ZEB2 | c.*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 |
2 | g.144389508A>C | CA348698811 | ZEB2 | c.*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) | |
2 | g.144389508A>G | CA429441054 | ZEB2 | c.*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=) | |
2 | g.144389508A>T | CA348698812 | ZEB2 | c.*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) | |
2 | g.144389509T>A | CA348698815 | ZEB2 | c.*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) | |
2 | g.144389509T>C | CA348698814 | ZEB2 | c.*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) | |
2 | g.144389509T>G | CA348698813 | ZEB2 | c.*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) | |
2 | g.144389510C>A | CA348698818 | ZEB2 | c.*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) | |
2 | g.144389510C>G | CA348698820 | ZEB2 | c.*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) | |
2 | g.144389510C>T | CA348698821 | ZEB2 | c.*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) | |
2 | g.144389511C>A | CA348698823 | ZEB2 | c.*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) | |
2 | g.144389511C= | CA1294881228 | ZEB2 | c.*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=) | |
2 | g.144389511C>G | CA348698824 | ZEB2 | c.*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) | |
2 | g.144389511C>T | CA429441055 | ZEB2 | c.*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 |
2 | g.144389512T>A | CA348698826 | ZEB2 | c.*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) | |
2 | g.144389512T>C | CA348698827 | ZEB2 | c.*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) | |
2 | g.144389512T>G | CA348698828 | ZEB2 | c.*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 |
2 | g.144389513C>A | CA348698830 | ZEB2 | c.*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) | |
2 | g.144389513C>G | CA348698832 | ZEB2 | c.*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 |
2 | g.144389513C>T | CA348698834 | ZEB2 | c.*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) | |
2 | g.144389514C>A | CA429441056 | ZEB2 | c.*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=) | |
2 | g.144389514C= | CA1294881229 | ZEB2 | c.*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=) | |
2 | g.144389514C>G | CA429441057 | ZEB2 | c.*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=) | |
2 | g.144389514C>T | CA16603742 | ZEB2 | c.*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 |
2 | g.144389515del | CA2586969974 | ZEB2 | c.*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?) | |
2 | g.144389515G>A | CA1898099 | ZEB2 | c.*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 |
2 | g.144389515G>C | CA348698840 | ZEB2 | c.*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) | |
2 | g.144389515G= | CA1294881230 | ZEB2 | c.*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=) | |
2 | g.144389515G>T | CA348698837 | ZEB2 | c.*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) | |
2 | g.144389516A>C | CA348698844 | ZEB2 | c.*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) | |
2 | g.144389516A>G | CA348698846 | ZEB2 | c.*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) | |
2 | g.144389516A>T | CA348698851 | ZEB2 | c.*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) | |
2 | g.144389517A>C | CA348698853 | ZEB2 | c.*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) | |
2 | g.144389517A>G | CA429441058 | ZEB2 | c.*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=) | |
2 | g.144389517A>T | CA348698855 | ZEB2 | c.*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) | |
2 | g.144389518C>A | CA348698858 | ZEB2 | c.*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) | |
2 | g.144389518C>G | CA348698862 | ZEB2 | c.*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 |
2 | g.144389518C>T | CA348698863 | ZEB2 | c.*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 |
2 | g.144389519T>A | CA348698867 | ZEB2 | c.*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) | |
2 | g.144389519T>C | CA348698869 | ZEB2 | c.*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 |
2 | g.144389519T>G | CA348698871 | ZEB2 | c.*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) | |
2 | g.144389519T= | CA1294881231 | ZEB2 | c.*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=) | |
2 | g.144389520A>C | CA348698874 | ZEB2 | c.*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) | |
2 | g.144389520A>G | CA429441059 | ZEB2 | c.*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 |
2 | g.144389520A>T | CA348698876 | ZEB2 | c.*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) | |
2 | g.144389521T>A | CA348698880 | ZEB2 | c.*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) | |
2 | g.144389521T>C | CA1898100 | ZEB2 | c.*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 |
2 | g.144389521T>G | CA1898101 | ZEB2 | c.*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 |
2 | g.144389521T= | CA1294881232 | ZEB2 | c.*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=) | |
2 | g.144389522C>A | CA348698881 | ZEB2 | c.*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 |
2 | g.144389522C= | CA1294881233 | ZEB2 | c.*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=) | |
2 | g.144389522C>G | CA348698883 | ZEB2 | c.*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 |
2 | g.144389522C>T | CA348698885 | ZEB2 | c.*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) | |
2 | g.144389523G>A | CA429441060 | ZEB2 | c.*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 |
2 | g.144389523G>C | CA348698888 | ZEB2 | c.*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) | |
2 | g.144389523G= | CA1294881234 | ZEB2 | c.*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=) | |
2 | g.144389523G>T | CA348698889 | ZEB2 | c.*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) | |
2 | g.144389524T>A | CA348698891 | ZEB2 | c.*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) | |
2 | g.144389524T>C | CA348698893 | ZEB2 | c.*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) | |
2 | g.144389524T>G | CA348698894 | ZEB2 | c.*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) | |
2 | g.144389525C>A | CA348698896 | ZEB2 | c.*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) | |
2 | g.144389525C>G | CA348698898 | ZEB2 | c.*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) | |
2 | g.144389525C>T | CA348698900 | ZEB2 | c.*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) | |
2 | g.144389526C>A | CA348698906 | ZEB2 | c.*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) | |
2 | g.144389526C>G | CA348698905 | ZEB2 | c.*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 |
2 | g.144389526C>T | CA348698903 | ZEB2 | c.*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) | |
2 | g.144389527A= | CA1294881235 | ZEB2 | c.*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=) | |
2 | g.144389527A>C | CA348698907 | ZEB2 | c.*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 |
2 | g.144389527A>G | CA1898102 | ZEB2 | c.*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 |
2 | g.144389527A>T | CA348698908 | ZEB2 | c.*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) | |
2 | g.144389528T>A | CA348698912 | ZEB2 | c.*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) | |
2 | g.144389528T>C | CA348698914 | ZEB2 | c.*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 |
2 | g.144389528T>G | CA348698915 | ZEB2 | c.*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) | |
2 | g.144389528T= | CA1294881236 | ZEB2 | c.*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=) | |
2 | g.144389529G>A | CA429441061 | ZEB2 | c.*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=) | |
2 | g.144389529G>C | CA429441062 | ZEB2 | c.*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=) | |
2 | g.144389529G= | CA1294881237 | ZEB2 | c.*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=) | |
2 | g.144389529G>T | CA429441063 | ZEB2 | c.*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 |
2 | g.144389529_144389530dup | CA253285 | ZEB2 | c.*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 |
2 | g.144389530G>A | CA348698917 | ZEB2 | c.*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 |
2 | g.144389530G>C | CA348698919 | ZEB2 | c.*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) | |
2 | g.144389530G= | CA1294881238 | ZEB2 | c.*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=) | |
2 | g.144389530G>T | CA348698920 | ZEB2 | c.*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) | |
2 | g.144389531A>C | CA348698922 | ZEB2 | c.*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) | |
2 | g.144389531A>G | CA348698923 | ZEB2 | c.*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 |
2 | g.144389531A>T | CA348698926 | ZEB2 | c.*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) | |
2 | g.144389532G>A | CA429441064 | ZEB2 | c.*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 |
2 | g.144389532G>C | CA348698930 | ZEB2 | c.*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) | |
2 | g.144389532G= | CA1294881239 | ZEB2 | c.*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=) | |
2 | g.144389532G>T | CA348698932 | ZEB2 | c.*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) | |
2 | g.144389533T>A | CA348698935 | ZEB2 | c.*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) | |
2 | g.144389533T>C | CA297574 | ZEB2 | c.*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 |
2 | g.144389533T>G | CA348698933 | ZEB2 | c.*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) | |
2 | g.144389533T= | CA1294881240 | ZEB2 | c.*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=) | |
2 | g.144389534G>A | CA348698938 | ZEB2 | c.*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 |
2 | g.144389534G>C | CA348698940 | ZEB2 | c.*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 |
2 | g.144389534G>T | CA348698946 | ZEB2 | c.*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) | |
2 | g.144389535A>C | CA348698949 | ZEB2 | c.*3410T>G (n.*3410T>G) c.2784T>G (p.Asp928Glu) c.3561T>G (p.Asp1187Glu) c.3449T>G (p.Ile1150Ser) n.3530T>G c.3225T>G (p.Asp1075Glu) c.3636T>G (p.Asp1212Glu) c.*3278T>G (n.*3278T>G) n.3661T>G c.151+6877T>G (n.151+6877T>G) c.781T>G (n.781T>G) c.1092T>G (p.Asp364Glu) c.3558T>G (p.Asp1186Glu) c.656-653T>G (n.656-653T>G) c.3489T>G (p.Asp1163Glu) c.3552T>G (p.Asp1184Glu) c.3540T>G (p.Asp1180Glu) | |
2 | g.144389535A>G | CA429441065 | ZEB2 | c.*3410T>C (n.*3410T>C) c.2784T>C (p.Asp928=) c.3561T>C (p.Asp1187=) c.3449T>C (p.Ile1150Thr) n.3530T>C c.3225T>C (p.Asp1075=) c.3636T>C (p.Asp1212=) c.*3278T>C (n.*3278T>C) n.3661T>C c.151+6877T>C (n.151+6877T>C) c.781T>C (n.781T>C) c.1092T>C (p.Asp364=) c.3558T>C (p.Asp1186=) c.656-653T>C (n.656-653T>C) c.3489T>C (p.Asp1163=) c.3552T>C (p.Asp1184=) c.3540T>C (p.Asp1180=) | COSMIC |
2 | g.144389535A>T | CA348698951 | ZEB2 | c.*3410T>A (n.*3410T>A) c.2784T>A (p.Asp928Glu) c.3561T>A (p.Asp1187Glu) c.3449T>A (p.Ile1150Asn) n.3530T>A c.3225T>A (p.Asp1075Glu) c.3636T>A (p.Asp1212Glu) c.*3278T>A (n.*3278T>A) n.3661T>A c.151+6877T>A (n.151+6877T>A) c.781T>A (n.781T>A) c.1092T>A (p.Asp364Glu) c.3558T>A (p.Asp1186Glu) c.656-653T>A (n.656-653T>A) c.3489T>A (p.Asp1163Glu) c.3552T>A (p.Asp1184Glu) c.3540T>A (p.Asp1180Glu) | |
2 | g.144389536T>A | CA348698952 | ZEB2 | c.*3409A>T (n.*3409A>T) c.2783A>T (p.Asp928Val) c.3560A>T (p.Asp1187Val) c.3448A>T (p.Ile1150Phe) n.3529A>T c.3224A>T (p.Asp1075Val) c.3635A>T (p.Asp1212Val) c.*3277A>T (n.*3277A>T) n.3660A>T c.151+6876A>T (n.151+6876A>T) c.780A>T (n.780A>T) c.1091A>T (p.Asp364Val) c.3557A>T (p.Asp1186Val) c.656-654A>T (n.656-654A>T) c.3488A>T (p.Asp1163Val) c.3551A>T (p.Asp1184Val) c.3539A>T (p.Asp1180Val) | |
2 | g.144389536T>C | CA348698954 | ZEB2 | c.*3409A>G (n.*3409A>G) c.2783A>G (p.Asp928Gly) c.3560A>G (p.Asp1187Gly) c.3448A>G (p.Ile1150Val) n.3529A>G c.3224A>G (p.Asp1075Gly) c.3635A>G (p.Asp1212Gly) c.*3277A>G (n.*3277A>G) n.3660A>G c.151+6876A>G (n.151+6876A>G) c.780A>G (n.780A>G) c.1091A>G (p.Asp364Gly) c.3557A>G (p.Asp1186Gly) c.656-654A>G (n.656-654A>G) c.3488A>G (p.Asp1163Gly) c.3551A>G (p.Asp1184Gly) c.3539A>G (p.Asp1180Gly) | |
2 | g.144389536T>G | CA348698957 | ZEB2 | c.*3409A>C (n.*3409A>C) c.2783A>C (p.Asp928Ala) c.3560A>C (p.Asp1187Ala) c.3448A>C (p.Ile1150Leu) n.3529A>C c.3224A>C (p.Asp1075Ala) c.3635A>C (p.Asp1212Ala) c.*3277A>C (n.*3277A>C) n.3660A>C c.151+6876A>C (n.151+6876A>C) c.780A>C (n.780A>C) c.1091A>C (p.Asp364Ala) c.3557A>C (p.Asp1186Ala) c.656-654A>C (n.656-654A>C) c.3488A>C (p.Asp1163Ala) c.3551A>C (p.Asp1184Ala) c.3539A>C (p.Asp1180Ala) | |
2 | g.144389537C>A | CA348698958 | ZEB2 | c.*3408G>T (n.*3408G>T) c.2782G>T (p.Asp928Tyr) c.3559G>T (p.Asp1187Tyr) c.3447G>T (p.Glu1149Asp) n.3528G>T c.3223G>T (p.Asp1075Tyr) c.3634G>T (p.Asp1212Tyr) c.*3276G>T (n.*3276G>T) n.3659G>T c.151+6875G>T (n.151+6875G>T) c.779G>T (n.779G>T) c.1090G>T (p.Asp364Tyr) c.3556G>T (p.Asp1186Tyr) c.656-655G>T (n.656-655G>T) c.3487G>T (p.Asp1163Tyr) c.3550G>T (p.Asp1184Tyr) c.3538G>T (p.Asp1180Tyr) | |
2 | g.144389537C>G | CA348698959 | ZEB2 | c.*3408G>C (n.*3408G>C) c.2782G>C (p.Asp928His) c.3559G>C (p.Asp1187His) c.3447G>C (p.Glu1149Asp) n.3528G>C c.3223G>C (p.Asp1075His) c.3634G>C (p.Asp1212His) c.*3276G>C (n.*3276G>C) n.3659G>C c.151+6875G>C (n.151+6875G>C) c.779G>C (n.779G>C) c.1090G>C (p.Asp364His) c.3556G>C (p.Asp1186His) c.656-655G>C (n.656-655G>C) c.3487G>C (p.Asp1163His) c.3550G>C (p.Asp1184His) c.3538G>C (p.Asp1180His) | |
2 | g.144389537C>T | CA348698960 | ZEB2 | c.*3408G>A (n.*3408G>A) c.2782G>A (p.Asp928Asn) c.3559G>A (p.Asp1187Asn) c.3447G>A (p.Glu1149=) n.3528G>A c.3223G>A (p.Asp1075Asn) c.3634G>A (p.Asp1212Asn) c.*3276G>A (n.*3276G>A) n.3659G>A c.151+6875G>A (n.151+6875G>A) c.779G>A (n.779G>A) c.1090G>A (p.Asp364Asn) c.3556G>A (p.Asp1186Asn) c.656-655G>A (n.656-655G>A) c.3487G>A (p.Asp1163Asn) c.3550G>A (p.Asp1184Asn) c.3538G>A (p.Asp1180Asn) | |
2 | g.144389538T>A | CA429441066 | ZEB2 | c.*3407A>T (n.*3407A>T) c.2781A>T (p.Gly927=) c.3558A>T (p.Gly1186=) c.3446A>T (p.Glu1149Val) n.3527A>T c.3222A>T (p.Gly1074=) c.3633A>T (p.Gly1211=) c.*3275A>T (n.*3275A>T) n.3658A>T c.151+6874A>T (n.151+6874A>T) c.778A>T (n.778A>T) c.1089A>T (p.Gly363=) c.3555A>T (p.Gly1185=) c.656-656A>T (n.656-656A>T) c.3486A>T (p.Gly1162=) c.3549A>T (p.Gly1183=) c.3537A>T (p.Gly1179=) | |
2 | g.144389538T>C | CA429441067 | ZEB2 | c.*3407A>G (n.*3407A>G) c.2781A>G (p.Gly927=) c.3558A>G (p.Gly1186=) c.3446A>G (p.Glu1149Gly) n.3527A>G c.3222A>G (p.Gly1074=) c.3633A>G (p.Gly1211=) c.*3275A>G (n.*3275A>G) n.3658A>G c.151+6874A>G (n.151+6874A>G) c.778A>G (n.778A>G) c.1089A>G (p.Gly363=) c.3555A>G (p.Gly1185=) c.656-656A>G (n.656-656A>G) c.3486A>G (p.Gly1162=) c.3549A>G (p.Gly1183=) c.3537A>G (p.Gly1179=) | |
2 | g.144389538T>G | CA429441068 | ZEB2 | c.*3407A>C (n.*3407A>C) c.2781A>C (p.Gly927=) c.3558A>C (p.Gly1186=) c.3446A>C (p.Glu1149Ala) n.3527A>C c.3222A>C (p.Gly1074=) c.3633A>C (p.Gly1211=) c.*3275A>C (n.*3275A>C) n.3658A>C c.151+6874A>C (n.151+6874A>C) c.778A>C (n.778A>C) c.1089A>C (p.Gly363=) c.3555A>C (p.Gly1185=) c.656-656A>C (n.656-656A>C) c.3486A>C (p.Gly1162=) c.3549A>C (p.Gly1183=) c.3537A>C (p.Gly1179=) | |
2 | g.144389539C>A | CA1898103 | ZEB2 | c.*3406G>T (n.*3406G>T) c.2780G>T (p.Gly927Val) c.3557G>T (p.Gly1186Val) c.3445G>T (p.Glu1149Ter) n.3526G>T c.3221G>T (p.Gly1074Val) c.3632G>T (p.Gly1211Val) c.*3274G>T (n.*3274G>T) n.3657G>T c.151+6873G>T (n.151+6873G>T) c.777G>T (n.777G>T) c.1088G>T (p.Gly363Val) c.3554G>T (p.Gly1185Val) c.656-657G>T (n.656-657G>T) c.3485G>T (p.Gly1162Val) c.3548G>T (p.Gly1183Val) c.3536G>T (p.Gly1179Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.144389539C= | CA1294881241 | ZEB2 | c.*3406G= (n.*3406G=) c.2780G= (p.Gly927=) c.3557G= (p.Gly1186=) c.3445G= (p.Glu1149=) n.3526G= c.3221G= (p.Gly1074=) c.3632G= (p.Gly1211=) c.*3274G= (n.*3274G=) n.3657G= c.151+6873G= (n.151+6873G=) c.777G= (n.777G=) c.1088G= (p.Gly363=) c.3554G= (p.Gly1185=) c.656-657G= (n.656-657G=) c.3485G= (p.Gly1162=) c.3548G= (p.Gly1183=) c.3536G= (p.Gly1179=) | |
2 | g.144389539C>G | CA348698966 | ZEB2 | c.*3406G>C (n.*3406G>C) c.2780G>C (p.Gly927Ala) c.3557G>C (p.Gly1186Ala) c.3445G>C (p.Glu1149Gln) n.3526G>C c.3221G>C (p.Gly1074Ala) c.3632G>C (p.Gly1211Ala) c.*3274G>C (n.*3274G>C) n.3657G>C c.151+6873G>C (n.151+6873G>C) c.777G>C (n.777G>C) c.1088G>C (p.Gly363Ala) c.3554G>C (p.Gly1185Ala) c.656-657G>C (n.656-657G>C) c.3485G>C (p.Gly1162Ala) c.3548G>C (p.Gly1183Ala) c.3536G>C (p.Gly1179Ala) | ClinVar dbSNP |
2 | g.144389539C>T | CA348698962 | ZEB2 | c.*3406G>A (n.*3406G>A) c.2780G>A (p.Gly927Glu) c.3557G>A (p.Gly1186Glu) c.3445G>A (p.Glu1149Lys) n.3526G>A c.3221G>A (p.Gly1074Glu) c.3632G>A (p.Gly1211Glu) c.*3274G>A (n.*3274G>A) n.3657G>A c.151+6873G>A (n.151+6873G>A) c.777G>A (n.777G>A) c.1088G>A (p.Gly363Glu) c.3554G>A (p.Gly1185Glu) c.656-657G>A (n.656-657G>A) c.3485G>A (p.Gly1162Glu) c.3548G>A (p.Gly1183Glu) c.3536G>A (p.Gly1179Glu) | |
2 | g.144389540C>A | CA348698969 | ZEB2 | c.*3405G>T (n.*3405G>T) c.2779G>T (p.Gly927Ter) c.3556G>T (p.Gly1186Ter) c.3444G>T (p.Leu1148=) n.3525G>T c.3220G>T (p.Gly1074Ter) c.3631G>T (p.Gly1211Ter) c.*3273G>T (n.*3273G>T) n.3656G>T c.151+6872G>T (n.151+6872G>T) c.776G>T (n.776G>T) c.1087G>T (p.Gly363Ter) c.3553G>T (p.Gly1185Ter) c.656-658G>T (n.656-658G>T) c.3484G>T (p.Gly1162Ter) c.3547G>T (p.Gly1183Ter) c.3535G>T (p.Gly1179Ter) | |
2 | g.144389540C>G | CA348698976 | ZEB2 | c.*3405G>C (n.*3405G>C) c.2779G>C (p.Gly927Arg) c.3556G>C (p.Gly1186Arg) c.3444G>C (p.Leu1148=) n.3525G>C c.3220G>C (p.Gly1074Arg) c.3631G>C (p.Gly1211Arg) c.*3273G>C (n.*3273G>C) n.3656G>C c.151+6872G>C (n.151+6872G>C) c.776G>C (n.776G>C) c.1087G>C (p.Gly363Arg) c.3553G>C (p.Gly1185Arg) c.656-658G>C (n.656-658G>C) c.3484G>C (p.Gly1162Arg) c.3547G>C (p.Gly1183Arg) c.3535G>C (p.Gly1179Arg) | |
2 | g.144389540C>T | CA348698978 | ZEB2 | c.*3405G>A (n.*3405G>A) c.2779G>A (p.Gly927Arg) c.3556G>A (p.Gly1186Arg) c.3444G>A (p.Leu1148=) n.3525G>A c.3220G>A (p.Gly1074Arg) c.3631G>A (p.Gly1211Arg) c.*3273G>A (n.*3273G>A) n.3656G>A c.151+6872G>A (n.151+6872G>A) c.776G>A (n.776G>A) c.1087G>A (p.Gly363Arg) c.3553G>A (p.Gly1185Arg) c.656-658G>A (n.656-658G>A) c.3484G>A (p.Gly1162Arg) c.3547G>A (p.Gly1183Arg) c.3535G>A (p.Gly1179Arg) | |
2 | g.144389541A>C | CA429441069 | ZEB2 | c.*3404T>G (n.*3404T>G) c.2778T>G (p.Thr926=) c.3555T>G (p.Thr1185=) c.3443T>G (p.Leu1148Arg) n.3524T>G c.3219T>G (p.Thr1073=) c.3630T>G (p.Thr1210=) c.*3272T>G (n.*3272T>G) n.3655T>G c.151+6871T>G (n.151+6871T>G) c.775T>G (n.775T>G) c.1086T>G (p.Thr362=) c.3552T>G (p.Thr1184=) c.656-659T>G (n.656-659T>G) c.3483T>G (p.Thr1161=) c.3546T>G (p.Thr1182=) c.3534T>G (p.Thr1178=) | |
2 | g.144389541A>G | CA429441070 | ZEB2 | c.*3404T>C (n.*3404T>C) c.2778T>C (p.Thr926=) c.3555T>C (p.Thr1185=) c.3443T>C (p.Leu1148Pro) n.3524T>C c.3219T>C (p.Thr1073=) c.3630T>C (p.Thr1210=) c.*3272T>C (n.*3272T>C) n.3655T>C c.151+6871T>C (n.151+6871T>C) c.775T>C (n.775T>C) c.1086T>C (p.Thr362=) c.3552T>C (p.Thr1184=) c.656-659T>C (n.656-659T>C) c.3483T>C (p.Thr1161=) c.3546T>C (p.Thr1182=) c.3534T>C (p.Thr1178=) | gnomAD v4 |
2 | g.144389541A>T | CA429441071 | ZEB2 | c.*3404T>A (n.*3404T>A) c.2778T>A (p.Thr926=) c.3555T>A (p.Thr1185=) c.3443T>A (p.Leu1148Gln) n.3524T>A c.3219T>A (p.Thr1073=) c.3630T>A (p.Thr1210=) c.*3272T>A (n.*3272T>A) n.3655T>A c.151+6871T>A (n.151+6871T>A) c.775T>A (n.775T>A) c.1086T>A (p.Thr362=) c.3552T>A (p.Thr1184=) c.656-659T>A (n.656-659T>A) c.3483T>A (p.Thr1161=) c.3546T>A (p.Thr1182=) c.3534T>A (p.Thr1178=) | |
2 | g.144389542G>A | CA348698981 | ZEB2 | c.*3403C>T (n.*3403C>T) c.2777C>T (p.Thr926Ile) c.3554C>T (p.Thr1185Ile) c.3442C>T (p.Leu1148=) n.3523C>T c.3218C>T (p.Thr1073Ile) c.3629C>T (p.Thr1210Ile) c.*3271C>T (n.*3271C>T) n.3654C>T c.151+6870C>T (n.151+6870C>T) c.774C>T (n.774C>T) c.1085C>T (p.Thr362Ile) c.3551C>T (p.Thr1184Ile) c.656-660C>T (n.656-660C>T) c.3482C>T (p.Thr1161Ile) c.3545C>T (p.Thr1182Ile) c.3533C>T (p.Thr1178Ile) | gnomAD v4 |
2 | g.144389542G>C | CA348698983 | ZEB2 | c.*3403C>G (n.*3403C>G) c.2777C>G (p.Thr926Ser) c.3554C>G (p.Thr1185Ser) c.3442C>G (p.Leu1148Val) n.3523C>G c.3218C>G (p.Thr1073Ser) c.3629C>G (p.Thr1210Ser) c.*3271C>G (n.*3271C>G) n.3654C>G c.151+6870C>G (n.151+6870C>G) c.774C>G (n.774C>G) c.1085C>G (p.Thr362Ser) c.3551C>G (p.Thr1184Ser) c.656-660C>G (n.656-660C>G) c.3482C>G (p.Thr1161Ser) c.3545C>G (p.Thr1182Ser) c.3533C>G (p.Thr1178Ser) | |
2 | g.144389542G>T | CA348698985 | ZEB2 | c.*3403C>A (n.*3403C>A) c.2777C>A (p.Thr926Asn) c.3554C>A (p.Thr1185Asn) c.3442C>A (p.Leu1148Met) n.3523C>A c.3218C>A (p.Thr1073Asn) c.3629C>A (p.Thr1210Asn) c.*3271C>A (n.*3271C>A) n.3654C>A c.151+6870C>A (n.151+6870C>A) c.774C>A (n.774C>A) c.1085C>A (p.Thr362Asn) c.3551C>A (p.Thr1184Asn) c.656-660C>A (n.656-660C>A) c.3482C>A (p.Thr1161Asn) c.3545C>A (p.Thr1182Asn) c.3533C>A (p.Thr1178Asn) | |
2 | g.144389543T>A | CA348698988 | ZEB2 | c.*3402A>T (n.*3402A>T) c.2776A>T (p.Thr926Ser) c.3553A>T (p.Thr1185Ser) c.3441A>T (p.Arg1147Ser) n.3522A>T c.3217A>T (p.Thr1073Ser) c.3628A>T (p.Thr1210Ser) c.*3270A>T (n.*3270A>T) n.3653A>T c.151+6869A>T (n.151+6869A>T) c.773A>T (n.773A>T) c.1084A>T (p.Thr362Ser) c.3550A>T (p.Thr1184Ser) c.656-661A>T (n.656-661A>T) c.3481A>T (p.Thr1161Ser) c.3544A>T (p.Thr1182Ser) c.3532A>T (p.Thr1178Ser) | |
2 | g.144389543T>C | CA348698990 | ZEB2 | c.*3402A>G (n.*3402A>G) c.2776A>G (p.Thr926Ala) c.3553A>G (p.Thr1185Ala) c.3441A>G (p.Arg1147=) n.3522A>G c.3217A>G (p.Thr1073Ala) c.3628A>G (p.Thr1210Ala) c.*3270A>G (n.*3270A>G) n.3653A>G c.151+6869A>G (n.151+6869A>G) c.773A>G (n.773A>G) c.1084A>G (p.Thr362Ala) c.3550A>G (p.Thr1184Ala) c.656-661A>G (n.656-661A>G) c.3481A>G (p.Thr1161Ala) c.3544A>G (p.Thr1182Ala) c.3532A>G (p.Thr1178Ala) | |
2 | g.144389543T>G | CA348698991 | ZEB2 | c.*3402A>C (n.*3402A>C) c.2776A>C (p.Thr926Pro) c.3553A>C (p.Thr1185Pro) c.3441A>C (p.Arg1147Ser) n.3522A>C c.3217A>C (p.Thr1073Pro) c.3628A>C (p.Thr1210Pro) c.*3270A>C (n.*3270A>C) n.3653A>C c.151+6869A>C (n.151+6869A>C) c.773A>C (n.773A>C) c.1084A>C (p.Thr362Pro) c.3550A>C (p.Thr1184Pro) c.656-661A>C (n.656-661A>C) c.3481A>C (p.Thr1161Pro) c.3544A>C (p.Thr1182Pro) c.3532A>C (p.Thr1178Pro) | COSMIC |
2 | g.144389544C>A | CA348698994 | ZEB2 | c.*3401G>T (n.*3401G>T) c.2775G>T (p.Glu925Asp) c.3552G>T (p.Glu1184Asp) c.3440G>T (p.Arg1147Ile) n.3521G>T c.3216G>T (p.Glu1072Asp) c.3627G>T (p.Glu1209Asp) c.*3269G>T (n.*3269G>T) n.3652G>T c.151+6868G>T (n.151+6868G>T) c.772G>T (n.772G>T) c.1083G>T (p.Glu361Asp) c.3549G>T (p.Glu1183Asp) c.656-662G>T (n.656-662G>T) c.3480G>T (p.Glu1160Asp) c.3543G>T (p.Glu1181Asp) c.3531G>T (p.Glu1177Asp) | |
2 | g.144389544C= | CA1294881243 | ZEB2 | c.*3401G= (n.*3401G=) c.2775G= (p.Glu925=) c.3552G= (p.Glu1184=) c.3440G= (p.Arg1147=) n.3521G= c.3216G= (p.Glu1072=) c.3627G= (p.Glu1209=) c.*3269G= (n.*3269G=) n.3652G= c.151+6868G= (n.151+6868G=) c.772G= (n.772G=) c.1083G= (p.Glu361=) c.3549G= (p.Glu1183=) c.656-662G= (n.656-662G=) c.3480G= (p.Glu1160=) c.3543G= (p.Glu1181=) c.3531G= (p.Glu1177=) | |
2 | g.144389544C>G | CA348698996 | ZEB2 | c.*3401G>C (n.*3401G>C) c.2775G>C (p.Glu925Asp) c.3552G>C (p.Glu1184Asp) c.3440G>C (p.Arg1147Thr) n.3521G>C c.3216G>C (p.Glu1072Asp) c.3627G>C (p.Glu1209Asp) c.*3269G>C (n.*3269G>C) n.3652G>C c.151+6868G>C (n.151+6868G>C) c.772G>C (n.772G>C) c.1083G>C (p.Glu361Asp) c.3549G>C (p.Glu1183Asp) c.656-662G>C (n.656-662G>C) c.3480G>C (p.Glu1160Asp) c.3543G>C (p.Glu1181Asp) c.3531G>C (p.Glu1177Asp) | gnomAD v4 |
2 | g.144389544C>T | CA429441072 | ZEB2 | c.*3401G>A (n.*3401G>A) c.2775G>A (p.Glu925=) c.3552G>A (p.Glu1184=) c.3440G>A (p.Arg1147Lys) n.3521G>A c.3216G>A (p.Glu1072=) c.3627G>A (p.Glu1209=) c.*3269G>A (n.*3269G>A) n.3652G>A c.151+6868G>A (n.151+6868G>A) c.772G>A (n.772G>A) c.1083G>A (p.Glu361=) c.3549G>A (p.Glu1183=) c.656-662G>A (n.656-662G>A) c.3480G>A (p.Glu1160=) c.3543G>A (p.Glu1181=) c.3531G>A (p.Glu1177=) | ClinVar dbSNP gnomAD v4 |
2 | g.144389544_144389547delinsCTCT | CA1294881242 | ZEB2 | c.*3398_*3401delinsAGAG (n.*3398_*3401delinsAGAG) c.2772_2775delinsAGAG (p.Glu924=) c.3549_3552delinsAGAG (p.Glu1183=) c.3437_3440delinsAGAG (p.Lys1146=) n.3518_3521delinsAGAG c.3213_3216delinsAGAG (p.Glu1071=) c.3624_3627delinsAGAG (p.Glu1208=) c.*3266_*3269delinsAGAG (n.*3266_*3269delinsAGAG) n.3649_3652delinsAGAG c.151+6865_151+6868delinsAGAG (n.151+6865_151+6868delinsAGAG) c.769_772delinsAGAG (n.769_772delinsAGAG) c.1080_1083delinsAGAG (p.Glu360=) c.3546_3549delinsAGAG (p.Glu1182=) c.656-665_656-662delinsAGAG (n.656-665_656-662delinsAGAG) c.3477_3480delinsAGAG (p.Glu1159=) c.3540_3543delinsAGAG (p.Glu1180=) c.3528_3531delinsAGAG (p.Glu1176=) | |
2 | g.144389545T>A | CA348699005 | ZEB2 | c.*3400A>T (n.*3400A>T) c.2774A>T (p.Glu925Val) c.3551A>T (p.Glu1184Val) c.3439A>T (p.Arg1147Ter) n.3520A>T c.3215A>T (p.Glu1072Val) c.3626A>T (p.Glu1209Val) c.*3268A>T (n.*3268A>T) n.3651A>T c.151+6867A>T (n.151+6867A>T) c.771A>T (n.771A>T) c.1082A>T (p.Glu361Val) c.3548A>T (p.Glu1183Val) c.656-663A>T (n.656-663A>T) c.3479A>T (p.Glu1160Val) c.3542A>T (p.Glu1181Val) c.3530A>T (p.Glu1177Val) | |
2 | g.144389545T>C | CA348699002 | ZEB2 | c.*3400A>G (n.*3400A>G) c.2774A>G (p.Glu925Gly) c.3551A>G (p.Glu1184Gly) c.3439A>G (p.Arg1147Gly) n.3520A>G c.3215A>G (p.Glu1072Gly) c.3626A>G (p.Glu1209Gly) c.*3268A>G (n.*3268A>G) n.3651A>G c.151+6867A>G (n.151+6867A>G) c.771A>G (n.771A>G) c.1082A>G (p.Glu361Gly) c.3548A>G (p.Glu1183Gly) c.656-663A>G (n.656-663A>G) c.3479A>G (p.Glu1160Gly) c.3542A>G (p.Glu1181Gly) c.3530A>G (p.Glu1177Gly) | |
2 | g.144389545T>G | CA348699000 | ZEB2 | c.*3400A>C (n.*3400A>C) c.2774A>C (p.Glu925Ala) c.3551A>C (p.Glu1184Ala) c.3439A>C (p.Arg1147=) n.3520A>C c.3215A>C (p.Glu1072Ala) c.3626A>C (p.Glu1209Ala) c.*3268A>C (n.*3268A>C) n.3651A>C c.151+6867A>C (n.151+6867A>C) c.771A>C (n.771A>C) c.1082A>C (p.Glu361Ala) c.3548A>C (p.Glu1183Ala) c.656-663A>C (n.656-663A>C) c.3479A>C (p.Glu1160Ala) c.3542A>C (p.Glu1181Ala) c.3530A>C (p.Glu1177Ala) | |
2 | g.144389550_144389552del | CA1898104 | ZEB2 | c.*3398_*3400del (n.*3398_*3400del) c.2772_2774del (p.Glu925del) c.3549_3551del (p.Glu1184del) c.3437_3439del (p.Lys1146del) n.3518_3520del c.3213_3215del (p.Glu1072del) c.3624_3626del (p.Glu1209del) c.*3266_*3268del (n.*3266_*3268del) n.3649_3651del c.151+6865_151+6867del (n.151+6865_151+6867del) c.769_771del (n.769_771del) c.1080_1082del (p.Glu361del) c.3546_3548del (p.Glu1183del) c.656-665_656-663del (n.656-665_656-663del) c.3477_3479del (p.Glu1160del) c.3540_3542del (p.Glu1181del) c.3528_3530del (p.Glu1177del) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
2 | g.144389546C>A | CA348699008 | ZEB2 | c.*3399G>T (n.*3399G>T) c.2773G>T (p.Glu925Ter) c.3550G>T (p.Glu1184Ter) c.3438G>T (p.Lys1146Asn) n.3519G>T c.3214G>T (p.Glu1072Ter) c.3625G>T (p.Glu1209Ter) c.*3267G>T (n.*3267G>T) n.3650G>T c.151+6866G>T (n.151+6866G>T) c.770G>T (n.770G>T) c.1081G>T (p.Glu361Ter) c.3547G>T (p.Glu1183Ter) c.656-664G>T (n.656-664G>T) c.3478G>T (p.Glu1160Ter) c.3541G>T (p.Glu1181Ter) c.3529G>T (p.Glu1177Ter) | |
2 | g.144389546C>G | CA348699010 | ZEB2 | c.*3399G>C (n.*3399G>C) c.2773G>C (p.Glu925Gln) c.3550G>C (p.Glu1184Gln) c.3438G>C (p.Lys1146Asn) n.3519G>C c.3214G>C (p.Glu1072Gln) c.3625G>C (p.Glu1209Gln) c.*3267G>C (n.*3267G>C) n.3650G>C c.151+6866G>C (n.151+6866G>C) c.770G>C (n.770G>C) c.1081G>C (p.Glu361Gln) c.3547G>C (p.Glu1183Gln) c.656-664G>C (n.656-664G>C) c.3478G>C (p.Glu1160Gln) c.3541G>C (p.Glu1181Gln) c.3529G>C (p.Glu1177Gln) | |
2 | g.144389546C>T | CA348699012 | ZEB2 | c.*3399G>A (n.*3399G>A) c.2773G>A (p.Glu925Lys) c.3550G>A (p.Glu1184Lys) c.3438G>A (p.Lys1146=) n.3519G>A c.3214G>A (p.Glu1072Lys) c.3625G>A (p.Glu1209Lys) c.*3267G>A (n.*3267G>A) n.3650G>A c.151+6866G>A (n.151+6866G>A) c.770G>A (n.770G>A) c.1081G>A (p.Glu361Lys) c.3547G>A (p.Glu1183Lys) c.656-664G>A (n.656-664G>A) c.3478G>A (p.Glu1160Lys) c.3541G>A (p.Glu1181Lys) c.3529G>A (p.Glu1177Lys) | |
2 | g.144389547T>A | CA348699015 | ZEB2 | c.*3398A>T (n.*3398A>T) c.2772A>T (p.Glu924Asp) c.3549A>T (p.Glu1183Asp) c.3437A>T (p.Lys1146Met) n.3518A>T c.3213A>T (p.Glu1071Asp) c.3624A>T (p.Glu1208Asp) c.*3266A>T (n.*3266A>T) n.3649A>T c.151+6865A>T (n.151+6865A>T) c.769A>T (n.769A>T) c.1080A>T (p.Glu360Asp) c.3546A>T (p.Glu1182Asp) c.656-665A>T (n.656-665A>T) c.3477A>T (p.Glu1159Asp) c.3540A>T (p.Glu1180Asp) c.3528A>T (p.Glu1176Asp) | |
2 | g.144389547T>C | CA429441073 | ZEB2 | c.*3398A>G (n.*3398A>G) c.2772A>G (p.Glu924=) c.3549A>G (p.Glu1183=) c.3437A>G (p.Lys1146Arg) n.3518A>G c.3213A>G (p.Glu1071=) c.3624A>G (p.Glu1208=) c.*3266A>G (n.*3266A>G) n.3649A>G c.151+6865A>G (n.151+6865A>G) c.769A>G (n.769A>G) c.1080A>G (p.Glu360=) c.3546A>G (p.Glu1182=) c.656-665A>G (n.656-665A>G) c.3477A>G (p.Glu1159=) c.3540A>G (p.Glu1180=) c.3528A>G (p.Glu1176=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.144389547T>G | CA348699017 | ZEB2 | c.*3398A>C (n.*3398A>C) c.2772A>C (p.Glu924Asp) c.3549A>C (p.Glu1183Asp) c.3437A>C (p.Lys1146Thr) n.3518A>C c.3213A>C (p.Glu1071Asp) c.3624A>C (p.Glu1208Asp) c.*3266A>C (n.*3266A>C) n.3649A>C c.151+6865A>C (n.151+6865A>C) c.769A>C (n.769A>C) c.1080A>C (p.Glu360Asp) c.3546A>C (p.Glu1182Asp) c.656-665A>C (n.656-665A>C) c.3477A>C (p.Glu1159Asp) c.3540A>C (p.Glu1180Asp) c.3528A>C (p.Glu1176Asp) | |
2 | g.144389547T= | CA1294881244 | ZEB2 | c.*3398A= (n.*3398A=) c.2772A= (p.Glu924=) c.3549A= (p.Glu1183=) c.3437A= (p.Lys1146=) n.3518A= c.3213A= (p.Glu1071=) c.3624A= (p.Glu1208=) c.*3266A= (n.*3266A=) n.3649A= c.151+6865A= (n.151+6865A=) c.769A= (n.769A=) c.1080A= (p.Glu360=) c.3546A= (p.Glu1182=) c.656-665A= (n.656-665A=) c.3477A= (p.Glu1159=) c.3540A= (p.Glu1180=) c.3528A= (p.Glu1176=) | |
2 | g.144389548T>A | CA348699019 | ZEB2 | c.*3397A>T (n.*3397A>T) c.2771A>T (p.Glu924Val) c.3548A>T (p.Glu1183Val) c.3436A>T (p.Lys1146Ter) n.3517A>T c.3212A>T (p.Glu1071Val) c.3623A>T (p.Glu1208Val) c.*3265A>T (n.*3265A>T) n.3648A>T c.151+6864A>T (n.151+6864A>T) c.768A>T (n.768A>T) c.1079A>T (p.Glu360Val) c.3545A>T (p.Glu1182Val) c.656-666A>T (n.656-666A>T) c.3476A>T (p.Glu1159Val) c.3539A>T (p.Glu1180Val) c.3527A>T (p.Glu1176Val) | dbSNP |
2 | g.144389548T>C | CA57549230 | ZEB2 | c.*3397A>G (n.*3397A>G) c.2771A>G (p.Glu924Gly) c.3548A>G (p.Glu1183Gly) c.3436A>G (p.Lys1146Glu) n.3517A>G c.3212A>G (p.Glu1071Gly) c.3623A>G (p.Glu1208Gly) c.*3265A>G (n.*3265A>G) n.3648A>G c.151+6864A>G (n.151+6864A>G) c.768A>G (n.768A>G) c.1079A>G (p.Glu360Gly) c.3545A>G (p.Glu1182Gly) c.656-666A>G (n.656-666A>G) c.3476A>G (p.Glu1159Gly) c.3539A>G (p.Glu1180Gly) c.3527A>G (p.Glu1176Gly) | dbSNP |
2 | g.144389548T>G | CA348699023 | ZEB2 | c.*3397A>C (n.*3397A>C) c.2771A>C (p.Glu924Ala) c.3548A>C (p.Glu1183Ala) c.3436A>C (p.Lys1146Gln) n.3517A>C c.3212A>C (p.Glu1071Ala) c.3623A>C (p.Glu1208Ala) c.*3265A>C (n.*3265A>C) n.3648A>C c.151+6864A>C (n.151+6864A>C) c.768A>C (n.768A>C) c.1079A>C (p.Glu360Ala) c.3545A>C (p.Glu1182Ala) c.656-666A>C (n.656-666A>C) c.3476A>C (p.Glu1159Ala) c.3539A>C (p.Glu1180Ala) c.3527A>C (p.Glu1176Ala) | |
2 | g.144389548T= | CA1294881245 | ZEB2 | c.*3397A= (n.*3397A=) c.2771A= (p.Glu924=) c.3548A= (p.Glu1183=) c.3436A= (p.Lys1146=) n.3517A= c.3212A= (p.Glu1071=) c.3623A= (p.Glu1208=) c.*3265A= (n.*3265A=) n.3648A= c.151+6864A= (n.151+6864A=) c.768A= (n.768A=) c.1079A= (p.Glu360=) c.3545A= (p.Glu1182=) c.656-666A= (n.656-666A=) c.3476A= (p.Glu1159=) c.3539A= (p.Glu1180=) c.3527A= (p.Glu1176=) | |
2 | g.144389549C>A | CA348699025 | ZEB2 | c.*3396G>T (n.*3396G>T) c.2770G>T (p.Glu924Ter) c.3547G>T (p.Glu1183Ter) c.3435G>T (p.Lys1145Asn) n.3516G>T c.3211G>T (p.Glu1071Ter) c.3622G>T (p.Glu1208Ter) c.*3264G>T (n.*3264G>T) n.3647G>T c.151+6863G>T (n.151+6863G>T) c.767G>T (n.767G>T) c.1078G>T (p.Glu360Ter) c.3544G>T (p.Glu1182Ter) c.656-667G>T (n.656-667G>T) c.3475G>T (p.Glu1159Ter) c.3538G>T (p.Glu1180Ter) c.3526G>T (p.Glu1176Ter) | |
2 | g.144389549C= | CA1294881246 | ZEB2 | c.*3396G= (n.*3396G=) c.2770G= (p.Glu924=) c.3547G= (p.Glu1183=) c.3435G= (p.Lys1145=) n.3516G= c.3211G= (p.Glu1071=) c.3622G= (p.Glu1208=) c.*3264G= (n.*3264G=) n.3647G= c.151+6863G= (n.151+6863G=) c.767G= (n.767G=) c.1078G= (p.Glu360=) c.3544G= (p.Glu1182=) c.656-667G= (n.656-667G=) c.3475G= (p.Glu1159=) c.3538G= (p.Glu1180=) c.3526G= (p.Glu1176=) | |
2 | g.144389549C>G | CA348699028 | ZEB2 | c.*3396G>C (n.*3396G>C) c.2770G>C (p.Glu924Gln) c.3547G>C (p.Glu1183Gln) c.3435G>C (p.Lys1145Asn) n.3516G>C c.3211G>C (p.Glu1071Gln) c.3622G>C (p.Glu1208Gln) c.*3264G>C (n.*3264G>C) n.3647G>C c.151+6863G>C (n.151+6863G>C) c.767G>C (n.767G>C) c.1078G>C (p.Glu360Gln) c.3544G>C (p.Glu1182Gln) c.656-667G>C (n.656-667G>C) c.3475G>C (p.Glu1159Gln) c.3538G>C (p.Glu1180Gln) c.3526G>C (p.Glu1176Gln) | dbSNP |
2 | g.144389549C>T | CA348699030 | ZEB2 | c.*3396G>A (n.*3396G>A) c.2770G>A (p.Glu924Lys) c.3547G>A (p.Glu1183Lys) c.3435G>A (p.Lys1145=) n.3516G>A c.3211G>A (p.Glu1071Lys) c.3622G>A (p.Glu1208Lys) c.*3264G>A (n.*3264G>A) n.3647G>A c.151+6863G>A (n.151+6863G>A) c.767G>A (n.767G>A) c.1078G>A (p.Glu360Lys) c.3544G>A (p.Glu1182Lys) c.656-667G>A (n.656-667G>A) c.3475G>A (p.Glu1159Lys) c.3538G>A (p.Glu1180Lys) c.3526G>A (p.Glu1176Lys) | COSMIC |
2 | g.144389550T>A | CA348699033 | ZEB2 | c.*3395A>T (n.*3395A>T) c.2769A>T (p.Glu923Asp) c.3546A>T (p.Glu1182Asp) c.3434A>T (p.Lys1145Met) n.3515A>T c.3210A>T (p.Glu1070Asp) c.3621A>T (p.Glu1207Asp) c.*3263A>T (n.*3263A>T) n.3646A>T c.151+6862A>T (n.151+6862A>T) c.766A>T (n.766A>T) c.1077A>T (p.Glu359Asp) c.3543A>T (p.Glu1181Asp) c.656-668A>T (n.656-668A>T) c.3474A>T (p.Glu1158Asp) c.3537A>T (p.Glu1179Asp) c.3525A>T (p.Glu1175Asp) | |
2 | g.144389550T>C | CA429441074 | ZEB2 | c.*3395A>G (n.*3395A>G) c.2769A>G (p.Glu923=) c.3546A>G (p.Glu1182=) c.3434A>G (p.Lys1145Arg) n.3515A>G c.3210A>G (p.Glu1070=) c.3621A>G (p.Glu1207=) c.*3263A>G (n.*3263A>G) n.3646A>G c.151+6862A>G (n.151+6862A>G) c.766A>G (n.766A>G) c.1077A>G (p.Glu359=) c.3543A>G (p.Glu1181=) c.656-668A>G (n.656-668A>G) c.3474A>G (p.Glu1158=) c.3537A>G (p.Glu1179=) c.3525A>G (p.Glu1175=) | gnomAD v4 |
2 | g.144389550T>G | CA348699034 | ZEB2 | c.*3395A>C (n.*3395A>C) c.2769A>C (p.Glu923Asp) c.3546A>C (p.Glu1182Asp) c.3434A>C (p.Lys1145Thr) n.3515A>C c.3210A>C (p.Glu1070Asp) c.3621A>C (p.Glu1207Asp) c.*3263A>C (n.*3263A>C) n.3646A>C c.151+6862A>C (n.151+6862A>C) c.766A>C (n.766A>C) c.1077A>C (p.Glu359Asp) c.3543A>C (p.Glu1181Asp) c.656-668A>C (n.656-668A>C) c.3474A>C (p.Glu1158Asp) c.3537A>C (p.Glu1179Asp) c.3525A>C (p.Glu1175Asp) | |
2 | g.144389551T>A | CA348699039 | ZEB2 | c.*3394A>T (n.*3394A>T) c.2768A>T (p.Glu923Val) c.3545A>T (p.Glu1182Val) c.3433A>T (p.Lys1145Ter) n.3514A>T c.3209A>T (p.Glu1070Val) c.3620A>T (p.Glu1207Val) c.*3262A>T (n.*3262A>T) n.3645A>T c.151+6861A>T (n.151+6861A>T) c.765A>T (n.765A>T) c.1076A>T (p.Glu359Val) c.3542A>T (p.Glu1181Val) c.656-669A>T (n.656-669A>T) c.3473A>T (p.Glu1158Val) c.3536A>T (p.Glu1179Val) c.3524A>T (p.Glu1175Val) | |
2 | g.144389551T>C | CA348699041 | ZEB2 | c.*3394A>G (n.*3394A>G) c.2768A>G (p.Glu923Gly) c.3545A>G (p.Glu1182Gly) c.3433A>G (p.Lys1145Glu) n.3514A>G c.3209A>G (p.Glu1070Gly) c.3620A>G (p.Glu1207Gly) c.*3262A>G (n.*3262A>G) n.3645A>G c.151+6861A>G (n.151+6861A>G) c.765A>G (n.765A>G) c.1076A>G (p.Glu359Gly) c.3542A>G (p.Glu1181Gly) c.656-669A>G (n.656-669A>G) c.3473A>G (p.Glu1158Gly) c.3536A>G (p.Glu1179Gly) c.3524A>G (p.Glu1175Gly) | |
2 | g.144389551T>G | CA348699037 | ZEB2 | c.*3394A>C (n.*3394A>C) c.2768A>C (p.Glu923Ala) c.3545A>C (p.Glu1182Ala) c.3433A>C (p.Lys1145Gln) n.3514A>C c.3209A>C (p.Glu1070Ala) c.3620A>C (p.Glu1207Ala) c.*3262A>C (n.*3262A>C) n.3645A>C c.151+6861A>C (n.151+6861A>C) c.765A>C (n.765A>C) c.1076A>C (p.Glu359Ala) c.3542A>C (p.Glu1181Ala) c.656-669A>C (n.656-669A>C) c.3473A>C (p.Glu1158Ala) c.3536A>C (p.Glu1179Ala) c.3524A>C (p.Glu1175Ala) | |
2 | g.144389551_144389552delinsTC | CA1294881247 | ZEB2 | c.*3393_*3394delinsGA (n.*3393_*3394delinsGA) c.2767_2768delinsGA (p.Glu923=) c.3544_3545delinsGA (p.Glu1182=) c.3432_3433delinsGA (p.Met1144=) n.3513_3514delinsGA c.3208_3209delinsGA (p.Glu1070=) c.3619_3620delinsGA (p.Glu1207=) c.*3261_*3262delinsGA (n.*3261_*3262delinsGA) n.3644_3645delinsGA c.151+6860_151+6861delinsGA (n.151+6860_151+6861delinsGA) c.764_765delinsGA (n.764_765delinsGA) c.1075_1076delinsGA (p.Glu359=) c.3541_3542delinsGA (p.Glu1181=) c.656-670_656-669delinsGA (n.656-670_656-669delinsGA) c.3472_3473delinsGA (p.Glu1158=) c.3535_3536delinsGA (p.Glu1179=) c.3523_3524delinsGA (p.Glu1175=) | |
2 | g.144389552del | CA235588 | ZEB2 | c.*3393del (n.*3393del) c.2767del (p.Glu923LysfsTer?) c.3544del (p.Glu1182LysfsTer?) c.3432del (p.Met1144IlefsTer12) n.3513del c.3208del (p.Glu1070LysfsTer?) c.3619del (p.Glu1207LysfsTer?) c.*3261del (n.*3261del) n.3644del c.151+6860del (n.151+6860del) c.764del (n.764del) c.1075del (p.Glu359LysfsTer?) c.3541del (p.Glu1181LysfsTer?) c.656-670del (n.656-670del) c.3472del (p.Glu1158LysfsTer?) c.3535del (p.Glu1179LysfsTer?) c.3523del (p.Glu1175LysfsTer?) | ClinVar dbSNP |
2 | g.144389552C>A | CA348699047 | ZEB2 | c.*3393G>T (n.*3393G>T) c.2767G>T (p.Glu923Ter) c.3544G>T (p.Glu1182Ter) c.3432G>T (p.Met1144Ile) n.3513G>T c.3208G>T (p.Glu1070Ter) c.3619G>T (p.Glu1207Ter) c.*3261G>T (n.*3261G>T) n.3644G>T c.151+6860G>T (n.151+6860G>T) c.764G>T (n.764G>T) c.1075G>T (p.Glu359Ter) c.3541G>T (p.Glu1181Ter) c.656-670G>T (n.656-670G>T) c.3472G>T (p.Glu1158Ter) c.3535G>T (p.Glu1179Ter) c.3523G>T (p.Glu1175Ter) | |
2 | g.144389552C>G | CA348699045 | ZEB2 | c.*3393G>C (n.*3393G>C) c.2767G>C (p.Glu923Gln) c.3544G>C (p.Glu1182Gln) c.3432G>C (p.Met1144Ile) n.3513G>C c.3208G>C (p.Glu1070Gln) c.3619G>C (p.Glu1207Gln) c.*3261G>C (n.*3261G>C) n.3644G>C c.151+6860G>C (n.151+6860G>C) c.764G>C (n.764G>C) c.1075G>C (p.Glu359Gln) c.3541G>C (p.Glu1181Gln) c.656-670G>C (n.656-670G>C) c.3472G>C (p.Glu1158Gln) c.3535G>C (p.Glu1179Gln) c.3523G>C (p.Glu1175Gln) | |
2 | g.144389552C>T | CA348699050 | ZEB2 | c.*3393G>A (n.*3393G>A) c.2767G>A (p.Glu923Lys) c.3544G>A (p.Glu1182Lys) c.3432G>A (p.Met1144Ile) n.3513G>A c.3208G>A (p.Glu1070Lys) c.3619G>A (p.Glu1207Lys) c.*3261G>A (n.*3261G>A) n.3644G>A c.151+6860G>A (n.151+6860G>A) c.764G>A (n.764G>A) c.1075G>A (p.Glu359Lys) c.3541G>A (p.Glu1181Lys) c.656-670G>A (n.656-670G>A) c.3472G>A (p.Glu1158Lys) c.3535G>A (p.Glu1179Lys) c.3523G>A (p.Glu1175Lys) |