Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.144389572T>A | CA348699090 | ZEB2 | c.*3373A>T (n.*3373A>T) c.2747A>T (p.Asp916Val) c.3524A>T (p.Asp1175Val) c.3412A>T (p.Ile1138Phe) n.3493A>T c.3188A>T (p.Asp1063Val) c.3599A>T (p.Asp1200Val) c.*3241A>T (n.*3241A>T) n.3624A>T c.151+6840A>T (n.151+6840A>T) c.744A>T (n.744A>T) c.1055A>T (p.Asp352Val) c.3521A>T (p.Asp1174Val) c.656-690A>T (n.656-690A>T) c.3452A>T (p.Asp1151Val) c.3515A>T (p.Asp1172Val) c.3503A>T (p.Asp1168Val) | gnomAD v4 |
2 | g.144389572T>C | CA348699091 | ZEB2 | c.*3373A>G (n.*3373A>G) c.2747A>G (p.Asp916Gly) c.3524A>G (p.Asp1175Gly) c.3412A>G (p.Ile1138Val) n.3493A>G c.3188A>G (p.Asp1063Gly) c.3599A>G (p.Asp1200Gly) c.*3241A>G (n.*3241A>G) n.3624A>G c.151+6840A>G (n.151+6840A>G) c.744A>G (n.744A>G) c.1055A>G (p.Asp352Gly) c.3521A>G (p.Asp1174Gly) c.656-690A>G (n.656-690A>G) c.3452A>G (p.Asp1151Gly) c.3515A>G (p.Asp1172Gly) c.3503A>G (p.Asp1168Gly) | |
2 | g.144389572T>G | CA348699092 | ZEB2 | c.*3373A>C (n.*3373A>C) c.2747A>C (p.Asp916Ala) c.3524A>C (p.Asp1175Ala) c.3412A>C (p.Ile1138Leu) n.3493A>C c.3188A>C (p.Asp1063Ala) c.3599A>C (p.Asp1200Ala) c.*3241A>C (n.*3241A>C) n.3624A>C c.151+6840A>C (n.151+6840A>C) c.744A>C (n.744A>C) c.1055A>C (p.Asp352Ala) c.3521A>C (p.Asp1174Ala) c.656-690A>C (n.656-690A>C) c.3452A>C (p.Asp1151Ala) c.3515A>C (p.Asp1172Ala) c.3503A>C (p.Asp1168Ala) | |
2 | g.144389572_144389573delinsTC | CA1294881257 | ZEB2 | c.*3372_*3373delinsGA (n.*3372_*3373delinsGA) c.2746_2747delinsGA (p.Asp916=) c.3523_3524delinsGA (p.Asp1175=) c.3411_3412delinsGA (p.Arg1137=) n.3492_3493delinsGA c.3187_3188delinsGA (p.Asp1063=) c.3598_3599delinsGA (p.Asp1200=) c.*3240_*3241delinsGA (n.*3240_*3241delinsGA) n.3623_3624delinsGA c.151+6839_151+6840delinsGA (n.151+6839_151+6840delinsGA) c.743_744delinsGA (n.743_744delinsGA) c.1054_1055delinsGA (p.Asp352=) c.3520_3521delinsGA (p.Asp1174=) c.656-691_656-690delinsGA (n.656-691_656-690delinsGA) c.3451_3452delinsGA (p.Asp1151=) c.3514_3515delinsGA (p.Asp1172=) c.3502_3503delinsGA (p.Asp1168=) | |
2 | g.144389573C>A | CA348699093 | ZEB2 | c.*3372G>T (n.*3372G>T) c.2746G>T (p.Asp916Tyr) c.3523G>T (p.Asp1175Tyr) c.3411G>T (p.Arg1137=) n.3492G>T c.3187G>T (p.Asp1063Tyr) c.3598G>T (p.Asp1200Tyr) c.*3240G>T (n.*3240G>T) n.3623G>T c.151+6839G>T (n.151+6839G>T) c.743G>T (n.743G>T) c.1054G>T (p.Asp352Tyr) c.3520G>T (p.Asp1174Tyr) c.656-691G>T (n.656-691G>T) c.3451G>T (p.Asp1151Tyr) c.3514G>T (p.Asp1172Tyr) c.3502G>T (p.Asp1168Tyr) | |
2 | g.144389573C>G | CA348699094 | ZEB2 | c.*3372G>C (n.*3372G>C) c.2746G>C (p.Asp916His) c.3523G>C (p.Asp1175His) c.3411G>C (p.Arg1137=) n.3492G>C c.3187G>C (p.Asp1063His) c.3598G>C (p.Asp1200His) c.*3240G>C (n.*3240G>C) n.3623G>C c.151+6839G>C (n.151+6839G>C) c.743G>C (n.743G>C) c.1054G>C (p.Asp352His) c.3520G>C (p.Asp1174His) c.656-691G>C (n.656-691G>C) c.3451G>C (p.Asp1151His) c.3514G>C (p.Asp1172His) c.3502G>C (p.Asp1168His) | |
2 | g.144389573C>T | CA348699095 | ZEB2 | c.*3372G>A (n.*3372G>A) c.2746G>A (p.Asp916Asn) c.3523G>A (p.Asp1175Asn) c.3411G>A (p.Arg1137=) n.3492G>A c.3187G>A (p.Asp1063Asn) c.3598G>A (p.Asp1200Asn) c.*3240G>A (n.*3240G>A) n.3623G>A c.151+6839G>A (n.151+6839G>A) c.743G>A (n.743G>A) c.1054G>A (p.Asp352Asn) c.3520G>A (p.Asp1174Asn) c.656-691G>A (n.656-691G>A) c.3451G>A (p.Asp1151Asn) c.3514G>A (p.Asp1172Asn) c.3502G>A (p.Asp1168Asn) | |
2 | g.144389574del | CA537029208 | ZEB2 | c.*3372del (n.*3372del) c.2746del (p.Asp916IlefsTer?) c.3523del (p.Asp1175IlefsTer?) c.3411del (p.Ile1138SerfsTer7) n.3492del c.3187del (p.Asp1063IlefsTer?) c.3598del (p.Asp1200IlefsTer?) c.*3240del (n.*3240del) n.3623del c.151+6839del (n.151+6839del) c.743del (n.743del) c.1054del (p.Asp352IlefsTer?) c.3520del (p.Asp1174IlefsTer?) c.656-691del (n.656-691del) c.3451del (p.Asp1151IlefsTer?) c.3514del (p.Asp1172IlefsTer?) c.3502del (p.Asp1168IlefsTer?) | dbSNP gnomAD v2 |
2 | g.144389574C>A | CA1898108 | ZEB2 | c.*3371G>T (n.*3371G>T) c.2745G>T (p.Thr915=) c.3522G>T (p.Thr1174=) c.3410G>T (p.Arg1137Leu) n.3491G>T c.3186G>T (p.Thr1062=) c.3597G>T (p.Thr1199=) c.*3239G>T (n.*3239G>T) n.3622G>T c.151+6838G>T (n.151+6838G>T) c.742G>T (n.742G>T) c.1053G>T (p.Thr351=) c.3519G>T (p.Thr1173=) c.656-692G>T (n.656-692G>T) c.3450G>T (p.Thr1150=) c.3513G>T (p.Thr1171=) c.3501G>T (p.Thr1167=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.144389574C= | CA1294881258 | ZEB2 | c.*3371G= (n.*3371G=) c.2745G= (p.Thr915=) c.3522G= (p.Thr1174=) c.3410G= (p.Arg1137=) n.3491G= c.3186G= (p.Thr1062=) c.3597G= (p.Thr1199=) c.*3239G= (n.*3239G=) n.3622G= c.151+6838G= (n.151+6838G=) c.742G= (n.742G=) c.1053G= (p.Thr351=) c.3519G= (p.Thr1173=) c.656-692G= (n.656-692G=) c.3450G= (p.Thr1150=) c.3513G= (p.Thr1171=) c.3501G= (p.Thr1167=) | |
2 | g.144389574C>G | CA429441090 | ZEB2 | c.*3371G>C (n.*3371G>C) c.2745G>C (p.Thr915=) c.3522G>C (p.Thr1174=) c.3410G>C (p.Arg1137Pro) n.3491G>C c.3186G>C (p.Thr1062=) c.3597G>C (p.Thr1199=) c.*3239G>C (n.*3239G>C) n.3622G>C c.151+6838G>C (n.151+6838G>C) c.742G>C (n.742G>C) c.1053G>C (p.Thr351=) c.3519G>C (p.Thr1173=) c.656-692G>C (n.656-692G>C) c.3450G>C (p.Thr1150=) c.3513G>C (p.Thr1171=) c.3501G>C (p.Thr1167=) | |
2 | g.144389574C>T | CA429441089 | ZEB2 | c.*3371G>A (n.*3371G>A) c.2745G>A (p.Thr915=) c.3522G>A (p.Thr1174=) c.3410G>A (p.Arg1137Gln) n.3491G>A c.3186G>A (p.Thr1062=) c.3597G>A (p.Thr1199=) c.*3239G>A (n.*3239G>A) n.3622G>A c.151+6838G>A (n.151+6838G>A) c.742G>A (n.742G>A) c.1053G>A (p.Thr351=) c.3519G>A (p.Thr1173=) c.656-692G>A (n.656-692G>A) c.3450G>A (p.Thr1150=) c.3513G>A (p.Thr1171=) c.3501G>A (p.Thr1167=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.144389575G>A | CA348699096 | ZEB2 | c.*3370C>T (n.*3370C>T) c.2744C>T (p.Thr915Met) c.3521C>T (p.Thr1174Met) c.3409C>T (p.Arg1137Trp) n.3490C>T c.3185C>T (p.Thr1062Met) c.3596C>T (p.Thr1199Met) c.*3238C>T (n.*3238C>T) n.3621C>T c.151+6837C>T (n.151+6837C>T) c.741C>T (n.741C>T) c.1052C>T (p.Thr351Met) c.3518C>T (p.Thr1173Met) c.656-693C>T (n.656-693C>T) c.3449C>T (p.Thr1150Met) c.3512C>T (p.Thr1171Met) c.3500C>T (p.Thr1167Met) | |
2 | g.144389575G>C | CA348699097 | ZEB2 | c.*3370C>G (n.*3370C>G) c.2744C>G (p.Thr915Arg) c.3521C>G (p.Thr1174Arg) c.3409C>G (p.Arg1137Gly) n.3490C>G c.3185C>G (p.Thr1062Arg) c.3596C>G (p.Thr1199Arg) c.*3238C>G (n.*3238C>G) n.3621C>G c.151+6837C>G (n.151+6837C>G) c.741C>G (n.741C>G) c.1052C>G (p.Thr351Arg) c.3518C>G (p.Thr1173Arg) c.656-693C>G (n.656-693C>G) c.3449C>G (p.Thr1150Arg) c.3512C>G (p.Thr1171Arg) c.3500C>G (p.Thr1167Arg) | |
2 | g.144389575G>T | CA348699098 | ZEB2 | c.*3370C>A (n.*3370C>A) c.2744C>A (p.Thr915Lys) c.3521C>A (p.Thr1174Lys) c.3409C>A (p.Arg1137=) n.3490C>A c.3185C>A (p.Thr1062Lys) c.3596C>A (p.Thr1199Lys) c.*3238C>A (n.*3238C>A) n.3621C>A c.151+6837C>A (n.151+6837C>A) c.741C>A (n.741C>A) c.1052C>A (p.Thr351Lys) c.3518C>A (p.Thr1173Lys) c.656-693C>A (n.656-693C>A) c.3449C>A (p.Thr1150Lys) c.3512C>A (p.Thr1171Lys) c.3500C>A (p.Thr1167Lys) | |
2 | g.144389576T>A | CA348699099 | ZEB2 | c.*3369A>T (n.*3369A>T) c.2743A>T (p.Thr915Ser) c.3520A>T (p.Thr1174Ser) c.3408A>T (p.Ile1136=) n.3489A>T c.3184A>T (p.Thr1062Ser) c.3595A>T (p.Thr1199Ser) c.*3237A>T (n.*3237A>T) n.3620A>T c.151+6836A>T (n.151+6836A>T) c.740A>T (n.740A>T) c.1051A>T (p.Thr351Ser) c.3517A>T (p.Thr1173Ser) c.656-694A>T (n.656-694A>T) c.3448A>T (p.Thr1150Ser) c.3511A>T (p.Thr1171Ser) c.3499A>T (p.Thr1167Ser) | |
2 | g.144389576T>C | CA348699100 | ZEB2 | c.*3369A>G (n.*3369A>G) c.2743A>G (p.Thr915Ala) c.3520A>G (p.Thr1174Ala) c.3408A>G (p.Ile1136Met) n.3489A>G c.3184A>G (p.Thr1062Ala) c.3595A>G (p.Thr1199Ala) c.*3237A>G (n.*3237A>G) n.3620A>G c.151+6836A>G (n.151+6836A>G) c.740A>G (n.740A>G) c.1051A>G (p.Thr351Ala) c.3517A>G (p.Thr1173Ala) c.656-694A>G (n.656-694A>G) c.3448A>G (p.Thr1150Ala) c.3511A>G (p.Thr1171Ala) c.3499A>G (p.Thr1167Ala) | COSMIC |
2 | g.144389576T>G | CA348699101 | ZEB2 | c.*3369A>C (n.*3369A>C) c.2743A>C (p.Thr915Pro) c.3520A>C (p.Thr1174Pro) c.3408A>C (p.Ile1136=) n.3489A>C c.3184A>C (p.Thr1062Pro) c.3595A>C (p.Thr1199Pro) c.*3237A>C (n.*3237A>C) n.3620A>C c.151+6836A>C (n.151+6836A>C) c.740A>C (n.740A>C) c.1051A>C (p.Thr351Pro) c.3517A>C (p.Thr1173Pro) c.656-694A>C (n.656-694A>C) c.3448A>C (p.Thr1150Pro) c.3511A>C (p.Thr1171Pro) c.3499A>C (p.Thr1167Pro) | |
2 | g.144389577A>C | CA348699103 | ZEB2 | c.*3368T>G (n.*3368T>G) c.2742T>G (p.Asp914Glu) c.3519T>G (p.Asp1173Glu) c.3407T>G (p.Ile1136Arg) n.3488T>G c.3183T>G (p.Asp1061Glu) c.3594T>G (p.Asp1198Glu) c.*3236T>G (n.*3236T>G) n.3619T>G c.151+6835T>G (n.151+6835T>G) c.739T>G (n.739T>G) c.1050T>G (p.Asp350Glu) c.3516T>G (p.Asp1172Glu) c.656-695T>G (n.656-695T>G) c.3447T>G (p.Asp1149Glu) c.3510T>G (p.Asp1170Glu) c.3498T>G (p.Asp1166Glu) | |
2 | g.144389577A>G | CA429441091 | ZEB2 | c.*3368T>C (n.*3368T>C) c.2742T>C (p.Asp914=) c.3519T>C (p.Asp1173=) c.3407T>C (p.Ile1136Thr) n.3488T>C c.3183T>C (p.Asp1061=) c.3594T>C (p.Asp1198=) c.*3236T>C (n.*3236T>C) n.3619T>C c.151+6835T>C (n.151+6835T>C) c.739T>C (n.739T>C) c.1050T>C (p.Asp350=) c.3516T>C (p.Asp1172=) c.656-695T>C (n.656-695T>C) c.3447T>C (p.Asp1149=) c.3510T>C (p.Asp1170=) c.3498T>C (p.Asp1166=) | gnomAD v4 |
2 | g.144389577A>T | CA348699102 | ZEB2 | c.*3368T>A (n.*3368T>A) c.2742T>A (p.Asp914Glu) c.3519T>A (p.Asp1173Glu) c.3407T>A (p.Ile1136Lys) n.3488T>A c.3183T>A (p.Asp1061Glu) c.3594T>A (p.Asp1198Glu) c.*3236T>A (n.*3236T>A) n.3619T>A c.151+6835T>A (n.151+6835T>A) c.739T>A (n.739T>A) c.1050T>A (p.Asp350Glu) c.3516T>A (p.Asp1172Glu) c.656-695T>A (n.656-695T>A) c.3447T>A (p.Asp1149Glu) c.3510T>A (p.Asp1170Glu) c.3498T>A (p.Asp1166Glu) | |
2 | g.144389578T>A | CA348699104 | ZEB2 | c.*3367A>T (n.*3367A>T) c.2741A>T (p.Asp914Val) c.3518A>T (p.Asp1173Val) c.3406A>T (p.Ile1136Leu) n.3487A>T c.3182A>T (p.Asp1061Val) c.3593A>T (p.Asp1198Val) c.*3235A>T (n.*3235A>T) n.3618A>T c.151+6834A>T (n.151+6834A>T) c.738A>T (n.738A>T) c.1049A>T (p.Asp350Val) c.3515A>T (p.Asp1172Val) c.656-696A>T (n.656-696A>T) c.3446A>T (p.Asp1149Val) c.3509A>T (p.Asp1170Val) c.3497A>T (p.Asp1166Val) | |
2 | g.144389578T>C | CA348699106 | ZEB2 | c.*3367A>G (n.*3367A>G) c.2741A>G (p.Asp914Gly) c.3518A>G (p.Asp1173Gly) c.3406A>G (p.Ile1136Val) n.3487A>G c.3182A>G (p.Asp1061Gly) c.3593A>G (p.Asp1198Gly) c.*3235A>G (n.*3235A>G) n.3618A>G c.151+6834A>G (n.151+6834A>G) c.738A>G (n.738A>G) c.1049A>G (p.Asp350Gly) c.3515A>G (p.Asp1172Gly) c.656-696A>G (n.656-696A>G) c.3446A>G (p.Asp1149Gly) c.3509A>G (p.Asp1170Gly) c.3497A>G (p.Asp1166Gly) | |
2 | g.144389578T>G | CA348699105 | ZEB2 | c.*3367A>C (n.*3367A>C) c.2741A>C (p.Asp914Ala) c.3518A>C (p.Asp1173Ala) c.3406A>C (p.Ile1136Leu) n.3487A>C c.3182A>C (p.Asp1061Ala) c.3593A>C (p.Asp1198Ala) c.*3235A>C (n.*3235A>C) n.3618A>C c.151+6834A>C (n.151+6834A>C) c.738A>C (n.738A>C) c.1049A>C (p.Asp350Ala) c.3515A>C (p.Asp1172Ala) c.656-696A>C (n.656-696A>C) c.3446A>C (p.Asp1149Ala) c.3509A>C (p.Asp1170Ala) c.3497A>C (p.Asp1166Ala) | |
2 | g.144389579C>A | CA348699107 | ZEB2 | c.*3366G>T (n.*3366G>T) c.2740G>T (p.Asp914Tyr) c.3517G>T (p.Asp1173Tyr) c.3405G>T (p.Trp1135Cys) n.3486G>T c.3181G>T (p.Asp1061Tyr) c.3592G>T (p.Asp1198Tyr) c.*3234G>T (n.*3234G>T) n.3617G>T c.151+6833G>T (n.151+6833G>T) c.737G>T (n.737G>T) c.1048G>T (p.Asp350Tyr) c.3514G>T (p.Asp1172Tyr) c.656-697G>T (n.656-697G>T) c.3445G>T (p.Asp1149Tyr) c.3508G>T (p.Asp1170Tyr) c.3496G>T (p.Asp1166Tyr) | |
2 | g.144389579C>G | CA348699108 | ZEB2 | c.*3366G>C (n.*3366G>C) c.2740G>C (p.Asp914His) c.3517G>C (p.Asp1173His) c.3405G>C (p.Trp1135Cys) n.3486G>C c.3181G>C (p.Asp1061His) c.3592G>C (p.Asp1198His) c.*3234G>C (n.*3234G>C) n.3617G>C c.151+6833G>C (n.151+6833G>C) c.737G>C (n.737G>C) c.1048G>C (p.Asp350His) c.3514G>C (p.Asp1172His) c.656-697G>C (n.656-697G>C) c.3445G>C (p.Asp1149His) c.3508G>C (p.Asp1170His) c.3496G>C (p.Asp1166His) | |
2 | g.144389579C>T | CA348699109 | ZEB2 | c.*3366G>A (n.*3366G>A) c.2740G>A (p.Asp914Asn) c.3517G>A (p.Asp1173Asn) c.3405G>A (p.Trp1135Ter) n.3486G>A c.3181G>A (p.Asp1061Asn) c.3592G>A (p.Asp1198Asn) c.*3234G>A (n.*3234G>A) n.3617G>A c.151+6833G>A (n.151+6833G>A) c.737G>A (n.737G>A) c.1048G>A (p.Asp350Asn) c.3514G>A (p.Asp1172Asn) c.656-697G>A (n.656-697G>A) c.3445G>A (p.Asp1149Asn) c.3508G>A (p.Asp1170Asn) c.3496G>A (p.Asp1166Asn) | |
2 | g.144389580C>A | CA348699110 | ZEB2 | c.*3365G>T (n.*3365G>T) c.2739G>T (p.Met913Ile) c.3516G>T (p.Met1172Ile) c.3404G>T (p.Trp1135Leu) n.3485G>T c.3180G>T (p.Met1060Ile) c.3591G>T (p.Met1197Ile) c.*3233G>T (n.*3233G>T) n.3616G>T c.151+6832G>T (n.151+6832G>T) c.736G>T (n.736G>T) c.1047G>T (p.Met349Ile) c.3513G>T (p.Met1171Ile) c.656-698G>T (n.656-698G>T) c.3444G>T (p.Met1148Ile) c.3507G>T (p.Met1169Ile) c.3495G>T (p.Met1165Ile) | |
2 | g.144389580C>G | CA348699111 | ZEB2 | c.*3365G>C (n.*3365G>C) c.2739G>C (p.Met913Ile) c.3516G>C (p.Met1172Ile) c.3404G>C (p.Trp1135Ser) n.3485G>C c.3180G>C (p.Met1060Ile) c.3591G>C (p.Met1197Ile) c.*3233G>C (n.*3233G>C) n.3616G>C c.151+6832G>C (n.151+6832G>C) c.736G>C (n.736G>C) c.1047G>C (p.Met349Ile) c.3513G>C (p.Met1171Ile) c.656-698G>C (n.656-698G>C) c.3444G>C (p.Met1148Ile) c.3507G>C (p.Met1169Ile) c.3495G>C (p.Met1165Ile) | |
2 | g.144389580C>T | CA348699112 | ZEB2 | c.*3365G>A (n.*3365G>A) c.2739G>A (p.Met913Ile) c.3516G>A (p.Met1172Ile) c.3404G>A (p.Trp1135Ter) n.3485G>A c.3180G>A (p.Met1060Ile) c.3591G>A (p.Met1197Ile) c.*3233G>A (n.*3233G>A) n.3616G>A c.151+6832G>A (n.151+6832G>A) c.736G>A (n.736G>A) c.1047G>A (p.Met349Ile) c.3513G>A (p.Met1171Ile) c.656-698G>A (n.656-698G>A) c.3444G>A (p.Met1148Ile) c.3507G>A (p.Met1169Ile) c.3495G>A (p.Met1165Ile) | |
2 | g.144389581A>C | CA348699113 | ZEB2 | c.*3364T>G (n.*3364T>G) c.2738T>G (p.Met913Arg) c.3515T>G (p.Met1172Arg) c.3403T>G (p.Trp1135Gly) n.3484T>G c.3179T>G (p.Met1060Arg) c.3590T>G (p.Met1197Arg) c.*3232T>G (n.*3232T>G) n.3615T>G c.151+6831T>G (n.151+6831T>G) c.735T>G (n.735T>G) c.1046T>G (p.Met349Arg) c.3512T>G (p.Met1171Arg) c.656-699T>G (n.656-699T>G) c.3443T>G (p.Met1148Arg) c.3506T>G (p.Met1169Arg) c.3494T>G (p.Met1165Arg) | |
2 | g.144389581A>G | CA348699114 | ZEB2 | c.*3364T>C (n.*3364T>C) c.2738T>C (p.Met913Thr) c.3515T>C (p.Met1172Thr) c.3403T>C (p.Trp1135Arg) n.3484T>C c.3179T>C (p.Met1060Thr) c.3590T>C (p.Met1197Thr) c.*3232T>C (n.*3232T>C) n.3615T>C c.151+6831T>C (n.151+6831T>C) c.735T>C (n.735T>C) c.1046T>C (p.Met349Thr) c.3512T>C (p.Met1171Thr) c.656-699T>C (n.656-699T>C) c.3443T>C (p.Met1148Thr) c.3506T>C (p.Met1169Thr) c.3494T>C (p.Met1165Thr) | gnomAD v4 COSMIC |
2 | g.144389581A>T | CA348699115 | ZEB2 | c.*3364T>A (n.*3364T>A) c.2738T>A (p.Met913Lys) c.3515T>A (p.Met1172Lys) c.3403T>A (p.Trp1135Arg) n.3484T>A c.3179T>A (p.Met1060Lys) c.3590T>A (p.Met1197Lys) c.*3232T>A (n.*3232T>A) n.3615T>A c.151+6831T>A (n.151+6831T>A) c.735T>A (n.735T>A) c.1046T>A (p.Met349Lys) c.3512T>A (p.Met1171Lys) c.656-699T>A (n.656-699T>A) c.3443T>A (p.Met1148Lys) c.3506T>A (p.Met1169Lys) c.3494T>A (p.Met1165Lys) | |
2 | g.144389582T>A | CA348699116 | ZEB2 | c.*3363A>T (n.*3363A>T) c.2737A>T (p.Met913Leu) c.3514A>T (p.Met1172Leu) c.3402A>T (p.Val1134=) n.3483A>T c.3178A>T (p.Met1060Leu) c.3589A>T (p.Met1197Leu) c.*3231A>T (n.*3231A>T) n.3614A>T c.151+6830A>T (n.151+6830A>T) c.734A>T (n.734A>T) c.1045A>T (p.Met349Leu) c.3511A>T (p.Met1171Leu) c.656-700A>T (n.656-700A>T) c.3442A>T (p.Met1148Leu) c.3505A>T (p.Met1169Leu) c.3493A>T (p.Met1165Leu) | |
2 | g.144389582T>C | CA348699117 | ZEB2 | c.*3363A>G (n.*3363A>G) c.2737A>G (p.Met913Val) c.3514A>G (p.Met1172Val) c.3402A>G (p.Val1134=) n.3483A>G c.3178A>G (p.Met1060Val) c.3589A>G (p.Met1197Val) c.*3231A>G (n.*3231A>G) n.3614A>G c.151+6830A>G (n.151+6830A>G) c.734A>G (n.734A>G) c.1045A>G (p.Met349Val) c.3511A>G (p.Met1171Val) c.656-700A>G (n.656-700A>G) c.3442A>G (p.Met1148Val) c.3505A>G (p.Met1169Val) c.3493A>G (p.Met1165Val) | |
2 | g.144389582T>G | CA348699118 | ZEB2 | c.*3363A>C (n.*3363A>C) c.2737A>C (p.Met913Leu) c.3514A>C (p.Met1172Leu) c.3402A>C (p.Val1134=) n.3483A>C c.3178A>C (p.Met1060Leu) c.3589A>C (p.Met1197Leu) c.*3231A>C (n.*3231A>C) n.3614A>C c.151+6830A>C (n.151+6830A>C) c.734A>C (n.734A>C) c.1045A>C (p.Met349Leu) c.3511A>C (p.Met1171Leu) c.656-700A>C (n.656-700A>C) c.3442A>C (p.Met1148Leu) c.3505A>C (p.Met1169Leu) c.3493A>C (p.Met1165Leu) | |
2 | g.144389583A= | CA1294881259 | ZEB2 | c.*3362T= (n.*3362T=) c.2736T= (p.Ser912=) c.3513T= (p.Ser1171=) c.3401T= (p.Val1134=) n.3482T= c.3177T= (p.Ser1059=) c.3588T= (p.Ser1196=) c.*3230T= (n.*3230T=) n.3613T= c.151+6829T= (n.151+6829T=) c.733T= (n.733T=) c.1044T= (p.Ser348=) c.3510T= (p.Ser1170=) c.656-701T= (n.656-701T=) c.3441T= (p.Ser1147=) c.3504T= (p.Ser1168=) c.3492T= (p.Ser1164=) | |
2 | g.144389583A>C | CA348699119 | ZEB2 | c.*3362T>G (n.*3362T>G) c.2736T>G (p.Ser912Arg) c.3513T>G (p.Ser1171Arg) c.3401T>G (p.Val1134Gly) n.3482T>G c.3177T>G (p.Ser1059Arg) c.3588T>G (p.Ser1196Arg) c.*3230T>G (n.*3230T>G) n.3613T>G c.151+6829T>G (n.151+6829T>G) c.733T>G (n.733T>G) c.1044T>G (p.Ser348Arg) c.3510T>G (p.Ser1170Arg) c.656-701T>G (n.656-701T>G) c.3441T>G (p.Ser1147Arg) c.3504T>G (p.Ser1168Arg) c.3492T>G (p.Ser1164Arg) | |
2 | g.144389583A>G | CA429441092 | ZEB2 | c.*3362T>C (n.*3362T>C) c.2736T>C (p.Ser912=) c.3513T>C (p.Ser1171=) c.3401T>C (p.Val1134Ala) n.3482T>C c.3177T>C (p.Ser1059=) c.3588T>C (p.Ser1196=) c.*3230T>C (n.*3230T>C) n.3613T>C c.151+6829T>C (n.151+6829T>C) c.733T>C (n.733T>C) c.1044T>C (p.Ser348=) c.3510T>C (p.Ser1170=) c.656-701T>C (n.656-701T>C) c.3441T>C (p.Ser1147=) c.3504T>C (p.Ser1168=) c.3492T>C (p.Ser1164=) | ClinVar dbSNP |
2 | g.144389583A>T | CA348699120 | ZEB2 | c.*3362T>A (n.*3362T>A) c.2736T>A (p.Ser912Arg) c.3513T>A (p.Ser1171Arg) c.3401T>A (p.Val1134Glu) n.3482T>A c.3177T>A (p.Ser1059Arg) c.3588T>A (p.Ser1196Arg) c.*3230T>A (n.*3230T>A) n.3613T>A c.151+6829T>A (n.151+6829T>A) c.733T>A (n.733T>A) c.1044T>A (p.Ser348Arg) c.3510T>A (p.Ser1170Arg) c.656-701T>A (n.656-701T>A) c.3441T>A (p.Ser1147Arg) c.3504T>A (p.Ser1168Arg) c.3492T>A (p.Ser1164Arg) | |
2 | g.144389584C>A | CA348699121 | ZEB2 | c.*3361G>T (n.*3361G>T) c.2735G>T (p.Ser912Ile) c.3512G>T (p.Ser1171Ile) c.3400G>T (p.Val1134Leu) n.3481G>T c.3176G>T (p.Ser1059Ile) c.3587G>T (p.Ser1196Ile) c.*3229G>T (n.*3229G>T) n.3612G>T c.151+6828G>T (n.151+6828G>T) c.732G>T (n.732G>T) c.1043G>T (p.Ser348Ile) c.3509G>T (p.Ser1170Ile) c.656-702G>T (n.656-702G>T) c.3440G>T (p.Ser1147Ile) c.3503G>T (p.Ser1168Ile) c.3491G>T (p.Ser1164Ile) | |
2 | g.144389584C= | CA1294881260 | ZEB2 | c.*3361G= (n.*3361G=) c.2735G= (p.Ser912=) c.3512G= (p.Ser1171=) c.3400G= (p.Val1134=) n.3481G= c.3176G= (p.Ser1059=) c.3587G= (p.Ser1196=) c.*3229G= (n.*3229G=) n.3612G= c.151+6828G= (n.151+6828G=) c.732G= (n.732G=) c.1043G= (p.Ser348=) c.3509G= (p.Ser1170=) c.656-702G= (n.656-702G=) c.3440G= (p.Ser1147=) c.3503G= (p.Ser1168=) c.3491G= (p.Ser1164=) | |
2 | g.144389584C>G | CA348699122 | ZEB2 | c.*3361G>C (n.*3361G>C) c.2735G>C (p.Ser912Thr) c.3512G>C (p.Ser1171Thr) c.3400G>C (p.Val1134Leu) n.3481G>C c.3176G>C (p.Ser1059Thr) c.3587G>C (p.Ser1196Thr) c.*3229G>C (n.*3229G>C) n.3612G>C c.151+6828G>C (n.151+6828G>C) c.732G>C (n.732G>C) c.1043G>C (p.Ser348Thr) c.3509G>C (p.Ser1170Thr) c.656-702G>C (n.656-702G>C) c.3440G>C (p.Ser1147Thr) c.3503G>C (p.Ser1168Thr) c.3491G>C (p.Ser1164Thr) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.144389584C>T | CA348699123 | ZEB2 | c.*3361G>A (n.*3361G>A) c.2735G>A (p.Ser912Asn) c.3512G>A (p.Ser1171Asn) c.3400G>A (p.Val1134Ile) n.3481G>A c.3176G>A (p.Ser1059Asn) c.3587G>A (p.Ser1196Asn) c.*3229G>A (n.*3229G>A) n.3612G>A c.151+6828G>A (n.151+6828G>A) c.732G>A (n.732G>A) c.1043G>A (p.Ser348Asn) c.3509G>A (p.Ser1170Asn) c.656-702G>A (n.656-702G>A) c.3440G>A (p.Ser1147Asn) c.3503G>A (p.Ser1168Asn) c.3491G>A (p.Ser1164Asn) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.144389585T>A | CA348699124 | ZEB2 | c.*3360A>T (n.*3360A>T) c.2734A>T (p.Ser912Cys) c.3511A>T (p.Ser1171Cys) c.3399A>T (p.Lys1133Asn) n.3480A>T c.3175A>T (p.Ser1059Cys) c.3586A>T (p.Ser1196Cys) c.*3228A>T (n.*3228A>T) n.3611A>T c.151+6827A>T (n.151+6827A>T) c.731A>T (n.731A>T) c.1042A>T (p.Ser348Cys) c.3508A>T (p.Ser1170Cys) c.656-703A>T (n.656-703A>T) c.3439A>T (p.Ser1147Cys) c.3502A>T (p.Ser1168Cys) c.3490A>T (p.Ser1164Cys) | |
2 | g.144389585T>C | CA348699125 | ZEB2 | c.*3360A>G (n.*3360A>G) c.2734A>G (p.Ser912Gly) c.3511A>G (p.Ser1171Gly) c.3399A>G (p.Lys1133=) n.3480A>G c.3175A>G (p.Ser1059Gly) c.3586A>G (p.Ser1196Gly) c.*3228A>G (n.*3228A>G) n.3611A>G c.151+6827A>G (n.151+6827A>G) c.731A>G (n.731A>G) c.1042A>G (p.Ser348Gly) c.3508A>G (p.Ser1170Gly) c.656-703A>G (n.656-703A>G) c.3439A>G (p.Ser1147Gly) c.3502A>G (p.Ser1168Gly) c.3490A>G (p.Ser1164Gly) | |
2 | g.144389585T>G | CA348699126 | ZEB2 | c.*3360A>C (n.*3360A>C) c.2734A>C (p.Ser912Arg) c.3511A>C (p.Ser1171Arg) c.3399A>C (p.Lys1133Asn) n.3480A>C c.3175A>C (p.Ser1059Arg) c.3586A>C (p.Ser1196Arg) c.*3228A>C (n.*3228A>C) n.3611A>C c.151+6827A>C (n.151+6827A>C) c.731A>C (n.731A>C) c.1042A>C (p.Ser348Arg) c.3508A>C (p.Ser1170Arg) c.656-703A>C (n.656-703A>C) c.3439A>C (p.Ser1147Arg) c.3502A>C (p.Ser1168Arg) c.3490A>C (p.Ser1164Arg) | |
2 | g.144389586T>A | CA348699127 | ZEB2 | c.*3359A>T (n.*3359A>T) c.2733A>T (p.Lys911Asn) c.3510A>T (p.Lys1170Asn) c.3398A>T (p.Lys1133Ile) n.3479A>T c.3174A>T (p.Lys1058Asn) c.3585A>T (p.Lys1195Asn) c.*3227A>T (n.*3227A>T) n.3610A>T c.151+6826A>T (n.151+6826A>T) c.730A>T (n.730A>T) c.1041A>T (p.Lys347Asn) c.3507A>T (p.Lys1169Asn) c.656-704A>T (n.656-704A>T) c.3438A>T (p.Lys1146Asn) c.3501A>T (p.Lys1167Asn) c.3489A>T (p.Lys1163Asn) | |
2 | g.144389586T>C | CA429441093 | ZEB2 | c.*3359A>G (n.*3359A>G) c.2733A>G (p.Lys911=) c.3510A>G (p.Lys1170=) c.3398A>G (p.Lys1133Arg) n.3479A>G c.3174A>G (p.Lys1058=) c.3585A>G (p.Lys1195=) c.*3227A>G (n.*3227A>G) n.3610A>G c.151+6826A>G (n.151+6826A>G) c.730A>G (n.730A>G) c.1041A>G (p.Lys347=) c.3507A>G (p.Lys1169=) c.656-704A>G (n.656-704A>G) c.3438A>G (p.Lys1146=) c.3501A>G (p.Lys1167=) c.3489A>G (p.Lys1163=) | dbSNP gnomAD v4 |
2 | g.144389586T>G | CA348699128 | ZEB2 | c.*3359A>C (n.*3359A>C) c.2733A>C (p.Lys911Asn) c.3510A>C (p.Lys1170Asn) c.3398A>C (p.Lys1133Thr) n.3479A>C c.3174A>C (p.Lys1058Asn) c.3585A>C (p.Lys1195Asn) c.*3227A>C (n.*3227A>C) n.3610A>C c.151+6826A>C (n.151+6826A>C) c.730A>C (n.730A>C) c.1041A>C (p.Lys347Asn) c.3507A>C (p.Lys1169Asn) c.656-704A>C (n.656-704A>C) c.3438A>C (p.Lys1146Asn) c.3501A>C (p.Lys1167Asn) c.3489A>C (p.Lys1163Asn) | |
2 | g.144389586T= | CA1294881261 | ZEB2 | c.*3359A= (n.*3359A=) c.2733A= (p.Lys911=) c.3510A= (p.Lys1170=) c.3398A= (p.Lys1133=) n.3479A= c.3174A= (p.Lys1058=) c.3585A= (p.Lys1195=) c.*3227A= (n.*3227A=) n.3610A= c.151+6826A= (n.151+6826A=) c.730A= (n.730A=) c.1041A= (p.Lys347=) c.3507A= (p.Lys1169=) c.656-704A= (n.656-704A=) c.3438A= (p.Lys1146=) c.3501A= (p.Lys1167=) c.3489A= (p.Lys1163=) | |
2 | g.144389587T>A | CA348699129 | ZEB2 | c.*3358A>T (n.*3358A>T) c.2732A>T (p.Lys911Ile) c.3509A>T (p.Lys1170Ile) c.3397A>T (p.Lys1133Ter) n.3478A>T c.3173A>T (p.Lys1058Ile) c.3584A>T (p.Lys1195Ile) c.*3226A>T (n.*3226A>T) n.3609A>T c.151+6825A>T (n.151+6825A>T) c.729A>T (n.729A>T) c.1040A>T (p.Lys347Ile) c.3506A>T (p.Lys1169Ile) c.656-705A>T (n.656-705A>T) c.3437A>T (p.Lys1146Ile) c.3500A>T (p.Lys1167Ile) c.3488A>T (p.Lys1163Ile) | |
2 | g.144389587T>C | CA348699130 | ZEB2 | c.*3358A>G (n.*3358A>G) c.2732A>G (p.Lys911Arg) c.3509A>G (p.Lys1170Arg) c.3397A>G (p.Lys1133Glu) n.3478A>G c.3173A>G (p.Lys1058Arg) c.3584A>G (p.Lys1195Arg) c.*3226A>G (n.*3226A>G) n.3609A>G c.151+6825A>G (n.151+6825A>G) c.729A>G (n.729A>G) c.1040A>G (p.Lys347Arg) c.3506A>G (p.Lys1169Arg) c.656-705A>G (n.656-705A>G) c.3437A>G (p.Lys1146Arg) c.3500A>G (p.Lys1167Arg) c.3488A>G (p.Lys1163Arg) | dbSNP |
2 | g.144389587T>G | CA348699131 | ZEB2 | c.*3358A>C (n.*3358A>C) c.2732A>C (p.Lys911Thr) c.3509A>C (p.Lys1170Thr) c.3397A>C (p.Lys1133Gln) n.3478A>C c.3173A>C (p.Lys1058Thr) c.3584A>C (p.Lys1195Thr) c.*3226A>C (n.*3226A>C) n.3609A>C c.151+6825A>C (n.151+6825A>C) c.729A>C (n.729A>C) c.1040A>C (p.Lys347Thr) c.3506A>C (p.Lys1169Thr) c.656-705A>C (n.656-705A>C) c.3437A>C (p.Lys1146Thr) c.3500A>C (p.Lys1167Thr) c.3488A>C (p.Lys1163Thr) | |
2 | g.144389587T= | CA1294881262 | ZEB2 | c.*3358A= (n.*3358A=) c.2732A= (p.Lys911=) c.3509A= (p.Lys1170=) c.3397A= (p.Lys1133=) n.3478A= c.3173A= (p.Lys1058=) c.3584A= (p.Lys1195=) c.*3226A= (n.*3226A=) n.3609A= c.151+6825A= (n.151+6825A=) c.729A= (n.729A=) c.1040A= (p.Lys347=) c.3506A= (p.Lys1169=) c.656-705A= (n.656-705A=) c.3437A= (p.Lys1146=) c.3500A= (p.Lys1167=) c.3488A= (p.Lys1163=) | |
2 | g.144389588T>A | CA348699133 | ZEB2 | c.*3357A>T (n.*3357A>T) c.2731A>T (p.Lys911Ter) c.3508A>T (p.Lys1170Ter) c.3396A>T (p.Ile1132=) n.3477A>T c.3172A>T (p.Lys1058Ter) c.3583A>T (p.Lys1195Ter) c.*3225A>T (n.*3225A>T) n.3608A>T c.151+6824A>T (n.151+6824A>T) c.728A>T (n.728A>T) c.1039A>T (p.Lys347Ter) c.3505A>T (p.Lys1169Ter) c.656-706A>T (n.656-706A>T) c.3436A>T (p.Lys1146Ter) c.3499A>T (p.Lys1167Ter) c.3487A>T (p.Lys1163Ter) | |
2 | g.144389588T>C | CA348699134 | ZEB2 | c.*3357A>G (n.*3357A>G) c.2731A>G (p.Lys911Glu) c.3508A>G (p.Lys1170Glu) c.3396A>G (p.Ile1132Met) n.3477A>G c.3172A>G (p.Lys1058Glu) c.3583A>G (p.Lys1195Glu) c.*3225A>G (n.*3225A>G) n.3608A>G c.151+6824A>G (n.151+6824A>G) c.728A>G (n.728A>G) c.1039A>G (p.Lys347Glu) c.3505A>G (p.Lys1169Glu) c.656-706A>G (n.656-706A>G) c.3436A>G (p.Lys1146Glu) c.3499A>G (p.Lys1167Glu) c.3487A>G (p.Lys1163Glu) | |
2 | g.144389588T>G | CA348699132 | ZEB2 | c.*3357A>C (n.*3357A>C) c.2731A>C (p.Lys911Gln) c.3508A>C (p.Lys1170Gln) c.3396A>C (p.Ile1132=) n.3477A>C c.3172A>C (p.Lys1058Gln) c.3583A>C (p.Lys1195Gln) c.*3225A>C (n.*3225A>C) n.3608A>C c.151+6824A>C (n.151+6824A>C) c.728A>C (n.728A>C) c.1039A>C (p.Lys347Gln) c.3505A>C (p.Lys1169Gln) c.656-706A>C (n.656-706A>C) c.3436A>C (p.Lys1146Gln) c.3499A>C (p.Lys1167Gln) c.3487A>C (p.Lys1163Gln) | |
2 | g.144389589A>C | CA348699135 | ZEB2 | c.*3356T>G (n.*3356T>G) c.2730T>G (p.Asn910Lys) c.3507T>G (p.Asn1169Lys) c.3395T>G (p.Ile1132Arg) n.3476T>G c.3171T>G (p.Asn1057Lys) c.3582T>G (p.Asn1194Lys) c.*3224T>G (n.*3224T>G) n.3607T>G c.151+6823T>G (n.151+6823T>G) c.727T>G (n.727T>G) c.1038T>G (p.Asn346Lys) c.3504T>G (p.Asn1168Lys) c.656-707T>G (n.656-707T>G) c.3435T>G (p.Asn1145Lys) c.3498T>G (p.Asn1166Lys) c.3486T>G (p.Asn1162Lys) | |
2 | g.144389589A>G | CA429441094 | ZEB2 | c.*3356T>C (n.*3356T>C) c.2730T>C (p.Asn910=) c.3507T>C (p.Asn1169=) c.3395T>C (p.Ile1132Thr) n.3476T>C c.3171T>C (p.Asn1057=) c.3582T>C (p.Asn1194=) c.*3224T>C (n.*3224T>C) n.3607T>C c.151+6823T>C (n.151+6823T>C) c.727T>C (n.727T>C) c.1038T>C (p.Asn346=) c.3504T>C (p.Asn1168=) c.656-707T>C (n.656-707T>C) c.3435T>C (p.Asn1145=) c.3498T>C (p.Asn1166=) c.3486T>C (p.Asn1162=) | |
2 | g.144389589A>T | CA348699136 | ZEB2 | c.*3356T>A (n.*3356T>A) c.2730T>A (p.Asn910Lys) c.3507T>A (p.Asn1169Lys) c.3395T>A (p.Ile1132Lys) n.3476T>A c.3171T>A (p.Asn1057Lys) c.3582T>A (p.Asn1194Lys) c.*3224T>A (n.*3224T>A) n.3607T>A c.151+6823T>A (n.151+6823T>A) c.727T>A (n.727T>A) c.1038T>A (p.Asn346Lys) c.3504T>A (p.Asn1168Lys) c.656-707T>A (n.656-707T>A) c.3435T>A (p.Asn1145Lys) c.3498T>A (p.Asn1166Lys) c.3486T>A (p.Asn1162Lys) | |
2 | g.144389590T>A | CA348699137 | ZEB2 | c.*3355A>T (n.*3355A>T) c.2729A>T (p.Asn910Ile) c.3506A>T (p.Asn1169Ile) c.3394A>T (p.Ile1132Leu) n.3475A>T c.3170A>T (p.Asn1057Ile) c.3581A>T (p.Asn1194Ile) c.*3223A>T (n.*3223A>T) n.3606A>T c.151+6822A>T (n.151+6822A>T) c.726A>T (n.726A>T) c.1037A>T (p.Asn346Ile) c.3503A>T (p.Asn1168Ile) c.656-708A>T (n.656-708A>T) c.3434A>T (p.Asn1145Ile) c.3497A>T (p.Asn1166Ile) c.3485A>T (p.Asn1162Ile) | |
2 | g.144389590T>C | CA348699138 | ZEB2 | c.*3355A>G (n.*3355A>G) c.2729A>G (p.Asn910Ser) c.3506A>G (p.Asn1169Ser) c.3394A>G (p.Ile1132Val) n.3475A>G c.3170A>G (p.Asn1057Ser) c.3581A>G (p.Asn1194Ser) c.*3223A>G (n.*3223A>G) n.3606A>G c.151+6822A>G (n.151+6822A>G) c.726A>G (n.726A>G) c.1037A>G (p.Asn346Ser) c.3503A>G (p.Asn1168Ser) c.656-708A>G (n.656-708A>G) c.3434A>G (p.Asn1145Ser) c.3497A>G (p.Asn1166Ser) c.3485A>G (p.Asn1162Ser) | |
2 | g.144389590T>G | CA348699139 | ZEB2 | c.*3355A>C (n.*3355A>C) c.2729A>C (p.Asn910Thr) c.3506A>C (p.Asn1169Thr) c.3394A>C (p.Ile1132Leu) n.3475A>C c.3170A>C (p.Asn1057Thr) c.3581A>C (p.Asn1194Thr) c.*3223A>C (n.*3223A>C) n.3606A>C c.151+6822A>C (n.151+6822A>C) c.726A>C (n.726A>C) c.1037A>C (p.Asn346Thr) c.3503A>C (p.Asn1168Thr) c.656-708A>C (n.656-708A>C) c.3434A>C (p.Asn1145Thr) c.3497A>C (p.Asn1166Thr) c.3485A>C (p.Asn1162Thr) | |
2 | g.144389591T>A | CA348699140 | ZEB2 | c.*3354A>T (n.*3354A>T) c.2728A>T (p.Asn910Tyr) c.3505A>T (p.Asn1169Tyr) c.3393A>T (p.Lys1131Asn) n.3474A>T c.3169A>T (p.Asn1057Tyr) c.3580A>T (p.Asn1194Tyr) c.*3222A>T (n.*3222A>T) n.3605A>T c.151+6821A>T (n.151+6821A>T) c.725A>T (n.725A>T) c.1036A>T (p.Asn346Tyr) c.3502A>T (p.Asn1168Tyr) c.656-709A>T (n.656-709A>T) c.3433A>T (p.Asn1145Tyr) c.3496A>T (p.Asn1166Tyr) c.3484A>T (p.Asn1162Tyr) | |
2 | g.144389591T>C | CA348699141 | ZEB2 | c.*3354A>G (n.*3354A>G) c.2728A>G (p.Asn910Asp) c.3505A>G (p.Asn1169Asp) c.3393A>G (p.Lys1131=) n.3474A>G c.3169A>G (p.Asn1057Asp) c.3580A>G (p.Asn1194Asp) c.*3222A>G (n.*3222A>G) n.3605A>G c.151+6821A>G (n.151+6821A>G) c.725A>G (n.725A>G) c.1036A>G (p.Asn346Asp) c.3502A>G (p.Asn1168Asp) c.656-709A>G (n.656-709A>G) c.3433A>G (p.Asn1145Asp) c.3496A>G (p.Asn1166Asp) c.3484A>G (p.Asn1162Asp) | |
2 | g.144389591T>G | CA348699142 | ZEB2 | c.*3354A>C (n.*3354A>C) c.2728A>C (p.Asn910His) c.3505A>C (p.Asn1169His) c.3393A>C (p.Lys1131Asn) n.3474A>C c.3169A>C (p.Asn1057His) c.3580A>C (p.Asn1194His) c.*3222A>C (n.*3222A>C) n.3605A>C c.151+6821A>C (n.151+6821A>C) c.725A>C (n.725A>C) c.1036A>C (p.Asn346His) c.3502A>C (p.Asn1168His) c.656-709A>C (n.656-709A>C) c.3433A>C (p.Asn1145His) c.3496A>C (p.Asn1166His) c.3484A>C (p.Asn1162His) | |
2 | g.144389592T>A | CA348699143 | ZEB2 | c.*3353A>T (n.*3353A>T) c.2727A>T (p.Glu909Asp) c.3504A>T (p.Glu1168Asp) c.3392A>T (p.Lys1131Ile) n.3473A>T c.3168A>T (p.Glu1056Asp) c.3579A>T (p.Glu1193Asp) c.*3221A>T (n.*3221A>T) n.3604A>T c.151+6820A>T (n.151+6820A>T) c.724A>T (n.724A>T) c.1035A>T (p.Glu345Asp) c.3501A>T (p.Glu1167Asp) c.656-710A>T (n.656-710A>T) c.3432A>T (p.Glu1144Asp) c.3495A>T (p.Glu1165Asp) c.3483A>T (p.Glu1161Asp) | |
2 | g.144389592T>C | CA429441095 | ZEB2 | c.*3353A>G (n.*3353A>G) c.2727A>G (p.Glu909=) c.3504A>G (p.Glu1168=) c.3392A>G (p.Lys1131Arg) n.3473A>G c.3168A>G (p.Glu1056=) c.3579A>G (p.Glu1193=) c.*3221A>G (n.*3221A>G) n.3604A>G c.151+6820A>G (n.151+6820A>G) c.724A>G (n.724A>G) c.1035A>G (p.Glu345=) c.3501A>G (p.Glu1167=) c.656-710A>G (n.656-710A>G) c.3432A>G (p.Glu1144=) c.3495A>G (p.Glu1165=) c.3483A>G (p.Glu1161=) | |
2 | g.144389592T>G | CA348699144 | ZEB2 | c.*3353A>C (n.*3353A>C) c.2727A>C (p.Glu909Asp) c.3504A>C (p.Glu1168Asp) c.3392A>C (p.Lys1131Thr) n.3473A>C c.3168A>C (p.Glu1056Asp) c.3579A>C (p.Glu1193Asp) c.*3221A>C (n.*3221A>C) n.3604A>C c.151+6820A>C (n.151+6820A>C) c.724A>C (n.724A>C) c.1035A>C (p.Glu345Asp) c.3501A>C (p.Glu1167Asp) c.656-710A>C (n.656-710A>C) c.3432A>C (p.Glu1144Asp) c.3495A>C (p.Glu1165Asp) c.3483A>C (p.Glu1161Asp) | |
2 | g.144389593T>A | CA348699145 | ZEB2 | c.*3352A>T (n.*3352A>T) c.2726A>T (p.Glu909Val) c.3503A>T (p.Glu1168Val) c.3391A>T (p.Lys1131Ter) n.3472A>T c.3167A>T (p.Glu1056Val) c.3578A>T (p.Glu1193Val) c.*3220A>T (n.*3220A>T) n.3603A>T c.151+6819A>T (n.151+6819A>T) c.723A>T (n.723A>T) c.1034A>T (p.Glu345Val) c.3500A>T (p.Glu1167Val) c.656-711A>T (n.656-711A>T) c.3431A>T (p.Glu1144Val) c.3494A>T (p.Glu1165Val) c.3482A>T (p.Glu1161Val) | |
2 | g.144389593T>C | CA348699146 | ZEB2 | c.*3352A>G (n.*3352A>G) c.2726A>G (p.Glu909Gly) c.3503A>G (p.Glu1168Gly) c.3391A>G (p.Lys1131Glu) n.3472A>G c.3167A>G (p.Glu1056Gly) c.3578A>G (p.Glu1193Gly) c.*3220A>G (n.*3220A>G) n.3603A>G c.151+6819A>G (n.151+6819A>G) c.723A>G (n.723A>G) c.1034A>G (p.Glu345Gly) c.3500A>G (p.Glu1167Gly) c.656-711A>G (n.656-711A>G) c.3431A>G (p.Glu1144Gly) c.3494A>G (p.Glu1165Gly) c.3482A>G (p.Glu1161Gly) | |
2 | g.144389593T>G | CA348699147 | ZEB2 | c.*3352A>C (n.*3352A>C) c.2726A>C (p.Glu909Ala) c.3503A>C (p.Glu1168Ala) c.3391A>C (p.Lys1131Gln) n.3472A>C c.3167A>C (p.Glu1056Ala) c.3578A>C (p.Glu1193Ala) c.*3220A>C (n.*3220A>C) n.3603A>C c.151+6819A>C (n.151+6819A>C) c.723A>C (n.723A>C) c.1034A>C (p.Glu345Ala) c.3500A>C (p.Glu1167Ala) c.656-711A>C (n.656-711A>C) c.3431A>C (p.Glu1144Ala) c.3494A>C (p.Glu1165Ala) c.3482A>C (p.Glu1161Ala) | ClinVar dbSNP |
2 | g.144389594C>A | CA348699150 | ZEB2 | c.*3351G>T (n.*3351G>T) c.2725G>T (p.Glu909Ter) c.3502G>T (p.Glu1168Ter) c.3390G>T (p.Val1130=) n.3471G>T c.3166G>T (p.Glu1056Ter) c.3577G>T (p.Glu1193Ter) c.*3219G>T (n.*3219G>T) n.3602G>T c.151+6818G>T (n.151+6818G>T) c.722G>T (n.722G>T) c.1033G>T (p.Glu345Ter) c.3499G>T (p.Glu1167Ter) c.656-712G>T (n.656-712G>T) c.3430G>T (p.Glu1144Ter) c.3493G>T (p.Glu1165Ter) c.3481G>T (p.Glu1161Ter) | |
2 | g.144389594C>G | CA348699149 | ZEB2 | c.*3351G>C (n.*3351G>C) c.2725G>C (p.Glu909Gln) c.3502G>C (p.Glu1168Gln) c.3390G>C (p.Val1130=) n.3471G>C c.3166G>C (p.Glu1056Gln) c.3577G>C (p.Glu1193Gln) c.*3219G>C (n.*3219G>C) n.3602G>C c.151+6818G>C (n.151+6818G>C) c.722G>C (n.722G>C) c.1033G>C (p.Glu345Gln) c.3499G>C (p.Glu1167Gln) c.656-712G>C (n.656-712G>C) c.3430G>C (p.Glu1144Gln) c.3493G>C (p.Glu1165Gln) c.3481G>C (p.Glu1161Gln) | |
2 | g.144389594C>T | CA348699148 | ZEB2 | c.*3351G>A (n.*3351G>A) c.2725G>A (p.Glu909Lys) c.3502G>A (p.Glu1168Lys) c.3390G>A (p.Val1130=) n.3471G>A c.3166G>A (p.Glu1056Lys) c.3577G>A (p.Glu1193Lys) c.*3219G>A (n.*3219G>A) n.3602G>A c.151+6818G>A (n.151+6818G>A) c.722G>A (n.722G>A) c.1033G>A (p.Glu345Lys) c.3499G>A (p.Glu1167Lys) c.656-712G>A (n.656-712G>A) c.3430G>A (p.Glu1144Lys) c.3493G>A (p.Glu1165Lys) c.3481G>A (p.Glu1161Lys) | |
2 | g.144389595A>C | CA348699151 | ZEB2 | c.*3350T>G (n.*3350T>G) c.2724T>G (p.Ser908Arg) c.3501T>G (p.Ser1167Arg) c.3389T>G (p.Val1130Gly) n.3470T>G c.3165T>G (p.Ser1055Arg) c.3576T>G (p.Ser1192Arg) c.*3218T>G (n.*3218T>G) n.3601T>G c.151+6817T>G (n.151+6817T>G) c.721T>G (n.721T>G) c.1032T>G (p.Ser344Arg) c.3498T>G (p.Ser1166Arg) c.656-713T>G (n.656-713T>G) c.3429T>G (p.Ser1143Arg) c.3492T>G (p.Ser1164Arg) c.3480T>G (p.Ser1160Arg) | |
2 | g.144389595A>G | CA429441096 | ZEB2 | c.*3350T>C (n.*3350T>C) c.2724T>C (p.Ser908=) c.3501T>C (p.Ser1167=) c.3389T>C (p.Val1130Ala) n.3470T>C c.3165T>C (p.Ser1055=) c.3576T>C (p.Ser1192=) c.*3218T>C (n.*3218T>C) n.3601T>C c.151+6817T>C (n.151+6817T>C) c.721T>C (n.721T>C) c.1032T>C (p.Ser344=) c.3498T>C (p.Ser1166=) c.656-713T>C (n.656-713T>C) c.3429T>C (p.Ser1143=) c.3492T>C (p.Ser1164=) c.3480T>C (p.Ser1160=) | |
2 | g.144389595A>T | CA348699152 | ZEB2 | c.*3350T>A (n.*3350T>A) c.2724T>A (p.Ser908Arg) c.3501T>A (p.Ser1167Arg) c.3389T>A (p.Val1130Glu) n.3470T>A c.3165T>A (p.Ser1055Arg) c.3576T>A (p.Ser1192Arg) c.*3218T>A (n.*3218T>A) n.3601T>A c.151+6817T>A (n.151+6817T>A) c.721T>A (n.721T>A) c.1032T>A (p.Ser344Arg) c.3498T>A (p.Ser1166Arg) c.656-713T>A (n.656-713T>A) c.3429T>A (p.Ser1143Arg) c.3492T>A (p.Ser1164Arg) c.3480T>A (p.Ser1160Arg) | |
2 | g.144389596C>A | CA348699153 | ZEB2 | c.*3349G>T (n.*3349G>T) c.2723G>T (p.Ser908Ile) c.3500G>T (p.Ser1167Ile) c.3388G>T (p.Val1130Leu) n.3469G>T c.3164G>T (p.Ser1055Ile) c.3575G>T (p.Ser1192Ile) c.*3217G>T (n.*3217G>T) n.3600G>T c.151+6816G>T (n.151+6816G>T) c.720G>T (n.720G>T) c.1031G>T (p.Ser344Ile) c.3497G>T (p.Ser1166Ile) c.656-714G>T (n.656-714G>T) c.3428G>T (p.Ser1143Ile) c.3491G>T (p.Ser1164Ile) c.3479G>T (p.Ser1160Ile) | |
2 | g.144389596C>G | CA348699154 | ZEB2 | c.*3349G>C (n.*3349G>C) c.2723G>C (p.Ser908Thr) c.3500G>C (p.Ser1167Thr) c.3388G>C (p.Val1130Leu) n.3469G>C c.3164G>C (p.Ser1055Thr) c.3575G>C (p.Ser1192Thr) c.*3217G>C (n.*3217G>C) n.3600G>C c.151+6816G>C (n.151+6816G>C) c.720G>C (n.720G>C) c.1031G>C (p.Ser344Thr) c.3497G>C (p.Ser1166Thr) c.656-714G>C (n.656-714G>C) c.3428G>C (p.Ser1143Thr) c.3491G>C (p.Ser1164Thr) c.3479G>C (p.Ser1160Thr) | |
2 | g.144389596C>T | CA348699155 | ZEB2 | c.*3349G>A (n.*3349G>A) c.2723G>A (p.Ser908Asn) c.3500G>A (p.Ser1167Asn) c.3388G>A (p.Val1130Met) n.3469G>A c.3164G>A (p.Ser1055Asn) c.3575G>A (p.Ser1192Asn) c.*3217G>A (n.*3217G>A) n.3600G>A c.151+6816G>A (n.151+6816G>A) c.720G>A (n.720G>A) c.1031G>A (p.Ser344Asn) c.3497G>A (p.Ser1166Asn) c.656-714G>A (n.656-714G>A) c.3428G>A (p.Ser1143Asn) c.3491G>A (p.Ser1164Asn) c.3479G>A (p.Ser1160Asn) | |
2 | g.144389596_144389597delinsCT | CA1294881263 | ZEB2 | c.*3348_*3349delinsAG (n.*3348_*3349delinsAG) c.2722_2723delinsAG (p.Ser908=) c.3499_3500delinsAG (p.Ser1167=) c.3387_3388delinsAG (p.Lys1129=) n.3468_3469delinsAG c.3163_3164delinsAG (p.Ser1055=) c.3574_3575delinsAG (p.Ser1192=) c.*3216_*3217delinsAG (n.*3216_*3217delinsAG) n.3599_3600delinsAG c.151+6815_151+6816delinsAG (n.151+6815_151+6816delinsAG) c.719_720delinsAG (n.719_720delinsAG) c.1030_1031delinsAG (p.Ser344=) c.3496_3497delinsAG (p.Ser1166=) c.656-715_656-714delinsAG (n.656-715_656-714delinsAG) c.3427_3428delinsAG (p.Ser1143=) c.3490_3491delinsAG (p.Ser1164=) c.3478_3479delinsAG (p.Ser1160=) | |
2 | g.144389597T>A | CA348699156 | ZEB2 | c.*3348A>T (n.*3348A>T) c.2722A>T (p.Ser908Cys) c.3499A>T (p.Ser1167Cys) c.3387A>T (p.Lys1129Asn) n.3468A>T c.3163A>T (p.Ser1055Cys) c.3574A>T (p.Ser1192Cys) c.*3216A>T (n.*3216A>T) n.3599A>T c.151+6815A>T (n.151+6815A>T) c.719A>T (n.719A>T) c.1030A>T (p.Ser344Cys) c.3496A>T (p.Ser1166Cys) c.656-715A>T (n.656-715A>T) c.3427A>T (p.Ser1143Cys) c.3490A>T (p.Ser1164Cys) c.3478A>T (p.Ser1160Cys) | |
2 | g.144389597T>C | CA348699157 | ZEB2 | c.*3348A>G (n.*3348A>G) c.2722A>G (p.Ser908Gly) c.3499A>G (p.Ser1167Gly) c.3387A>G (p.Lys1129=) n.3468A>G c.3163A>G (p.Ser1055Gly) c.3574A>G (p.Ser1192Gly) c.*3216A>G (n.*3216A>G) n.3599A>G c.151+6815A>G (n.151+6815A>G) c.719A>G (n.719A>G) c.1030A>G (p.Ser344Gly) c.3496A>G (p.Ser1166Gly) c.656-715A>G (n.656-715A>G) c.3427A>G (p.Ser1143Gly) c.3490A>G (p.Ser1164Gly) c.3478A>G (p.Ser1160Gly) | |
2 | g.144389597T>G | CA348699158 | ZEB2 | c.*3348A>C (n.*3348A>C) c.2722A>C (p.Ser908Arg) c.3499A>C (p.Ser1167Arg) c.3387A>C (p.Lys1129Asn) n.3468A>C c.3163A>C (p.Ser1055Arg) c.3574A>C (p.Ser1192Arg) c.*3216A>C (n.*3216A>C) n.3599A>C c.151+6815A>C (n.151+6815A>C) c.719A>C (n.719A>C) c.1030A>C (p.Ser344Arg) c.3496A>C (p.Ser1166Arg) c.656-715A>C (n.656-715A>C) c.3427A>C (p.Ser1143Arg) c.3490A>C (p.Ser1164Arg) c.3478A>C (p.Ser1160Arg) | |
2 | g.144389599del | CA297644 | ZEB2 | c.*3348del (n.*3348del) c.2722del (p.Ser908ValfsTer?) c.3499del (p.Ser1167ValfsTer?) c.3387del (p.Val1130Ter) n.3468del c.3163del (p.Ser1055ValfsTer?) c.3574del (p.Ser1192ValfsTer?) c.*3216del (n.*3216del) n.3599del c.151+6815del (n.151+6815del) c.719del (n.719del) c.1030del (p.Ser344ValfsTer?) c.3496del (p.Ser1166ValfsTer?) c.656-715del (n.656-715del) c.3427del (p.Ser1143ValfsTer?) c.3490del (p.Ser1164ValfsTer?) c.3478del (p.Ser1160ValfsTer?) | ClinVar dbSNP |
2 | g.144389598T>A | CA348699159 | ZEB2 | c.*3347A>T (n.*3347A>T) c.2721A>T (p.Glu907Asp) c.3498A>T (p.Glu1166Asp) c.3386A>T (p.Lys1129Ile) n.3467A>T c.3162A>T (p.Glu1054Asp) c.3573A>T (p.Glu1191Asp) c.*3215A>T (n.*3215A>T) n.3598A>T c.151+6814A>T (n.151+6814A>T) c.718A>T (n.718A>T) c.1029A>T (p.Glu343Asp) c.3495A>T (p.Glu1165Asp) c.656-716A>T (n.656-716A>T) c.3426A>T (p.Glu1142Asp) c.3489A>T (p.Glu1163Asp) c.3477A>T (p.Glu1159Asp) | |
2 | g.144389598T>C | CA429441097 | ZEB2 | c.*3347A>G (n.*3347A>G) c.2721A>G (p.Glu907=) c.3498A>G (p.Glu1166=) c.3386A>G (p.Lys1129Arg) n.3467A>G c.3162A>G (p.Glu1054=) c.3573A>G (p.Glu1191=) c.*3215A>G (n.*3215A>G) n.3598A>G c.151+6814A>G (n.151+6814A>G) c.718A>G (n.718A>G) c.1029A>G (p.Glu343=) c.3495A>G (p.Glu1165=) c.656-716A>G (n.656-716A>G) c.3426A>G (p.Glu1142=) c.3489A>G (p.Glu1163=) c.3477A>G (p.Glu1159=) | |
2 | g.144389598T>G | CA348699160 | ZEB2 | c.*3347A>C (n.*3347A>C) c.2721A>C (p.Glu907Asp) c.3498A>C (p.Glu1166Asp) c.3386A>C (p.Lys1129Thr) n.3467A>C c.3162A>C (p.Glu1054Asp) c.3573A>C (p.Glu1191Asp) c.*3215A>C (n.*3215A>C) n.3598A>C c.151+6814A>C (n.151+6814A>C) c.718A>C (n.718A>C) c.1029A>C (p.Glu343Asp) c.3495A>C (p.Glu1165Asp) c.656-716A>C (n.656-716A>C) c.3426A>C (p.Glu1142Asp) c.3489A>C (p.Glu1163Asp) c.3477A>C (p.Glu1159Asp) | gnomAD v4 |
2 | g.144389599T>A | CA348699161 | ZEB2 | c.*3346A>T (n.*3346A>T) c.2720A>T (p.Glu907Val) c.3497A>T (p.Glu1166Val) c.3385A>T (p.Lys1129Ter) n.3466A>T c.3161A>T (p.Glu1054Val) c.3572A>T (p.Glu1191Val) c.*3214A>T (n.*3214A>T) n.3597A>T c.151+6813A>T (n.151+6813A>T) c.717A>T (n.717A>T) c.1028A>T (p.Glu343Val) c.3494A>T (p.Glu1165Val) c.656-717A>T (n.656-717A>T) c.3425A>T (p.Glu1142Val) c.3488A>T (p.Glu1163Val) c.3476A>T (p.Glu1159Val) | |
2 | g.144389599T>C | CA348699162 | ZEB2 | c.*3346A>G (n.*3346A>G) c.2720A>G (p.Glu907Gly) c.3497A>G (p.Glu1166Gly) c.3385A>G (p.Lys1129Glu) n.3466A>G c.3161A>G (p.Glu1054Gly) c.3572A>G (p.Glu1191Gly) c.*3214A>G (n.*3214A>G) n.3597A>G c.151+6813A>G (n.151+6813A>G) c.717A>G (n.717A>G) c.1028A>G (p.Glu343Gly) c.3494A>G (p.Glu1165Gly) c.656-717A>G (n.656-717A>G) c.3425A>G (p.Glu1142Gly) c.3488A>G (p.Glu1163Gly) c.3476A>G (p.Glu1159Gly) | gnomAD v4 |
2 | g.144389599T>G | CA348699163 | ZEB2 | c.*3346A>C (n.*3346A>C) c.2720A>C (p.Glu907Ala) c.3497A>C (p.Glu1166Ala) c.3385A>C (p.Lys1129Gln) n.3466A>C c.3161A>C (p.Glu1054Ala) c.3572A>C (p.Glu1191Ala) c.*3214A>C (n.*3214A>C) n.3597A>C c.151+6813A>C (n.151+6813A>C) c.717A>C (n.717A>C) c.1028A>C (p.Glu343Ala) c.3494A>C (p.Glu1165Ala) c.656-717A>C (n.656-717A>C) c.3425A>C (p.Glu1142Ala) c.3488A>C (p.Glu1163Ala) c.3476A>C (p.Glu1159Ala) | |
2 | g.144389600C>A | CA348699165 | ZEB2 | c.*3345G>T (n.*3345G>T) c.2719G>T (p.Glu907Ter) c.3496G>T (p.Glu1166Ter) c.3384G>T (p.Lys1128Asn) n.3465G>T c.3160G>T (p.Glu1054Ter) c.3571G>T (p.Glu1191Ter) c.*3213G>T (n.*3213G>T) n.3596G>T c.151+6812G>T (n.151+6812G>T) c.716G>T (n.716G>T) c.1027G>T (p.Glu343Ter) c.3493G>T (p.Glu1165Ter) c.656-718G>T (n.656-718G>T) c.3424G>T (p.Glu1142Ter) c.3487G>T (p.Glu1163Ter) c.3475G>T (p.Glu1159Ter) | |
2 | g.144389600C>G | CA348699166 | ZEB2 | c.*3345G>C (n.*3345G>C) c.2719G>C (p.Glu907Gln) c.3496G>C (p.Glu1166Gln) c.3384G>C (p.Lys1128Asn) n.3465G>C c.3160G>C (p.Glu1054Gln) c.3571G>C (p.Glu1191Gln) c.*3213G>C (n.*3213G>C) n.3596G>C c.151+6812G>C (n.151+6812G>C) c.716G>C (n.716G>C) c.1027G>C (p.Glu343Gln) c.3493G>C (p.Glu1165Gln) c.656-718G>C (n.656-718G>C) c.3424G>C (p.Glu1142Gln) c.3487G>C (p.Glu1163Gln) c.3475G>C (p.Glu1159Gln) | |
2 | g.144389600C>T | CA348699164 | ZEB2 | c.*3345G>A (n.*3345G>A) c.2719G>A (p.Glu907Lys) c.3496G>A (p.Glu1166Lys) c.3384G>A (p.Lys1128=) n.3465G>A c.3160G>A (p.Glu1054Lys) c.3571G>A (p.Glu1191Lys) c.*3213G>A (n.*3213G>A) n.3596G>A c.151+6812G>A (n.151+6812G>A) c.716G>A (n.716G>A) c.1027G>A (p.Glu343Lys) c.3493G>A (p.Glu1165Lys) c.656-718G>A (n.656-718G>A) c.3424G>A (p.Glu1142Lys) c.3487G>A (p.Glu1163Lys) c.3475G>A (p.Glu1159Lys) | |
2 | g.144389601T>A | CA348699168 | ZEB2 | c.*3344A>T (n.*3344A>T) c.2718A>T (p.Glu906Asp) c.3495A>T (p.Glu1165Asp) c.3383A>T (p.Lys1128Met) n.3464A>T c.3159A>T (p.Glu1053Asp) c.3570A>T (p.Glu1190Asp) c.*3212A>T (n.*3212A>T) n.3595A>T c.151+6811A>T (n.151+6811A>T) c.715A>T (n.715A>T) c.1026A>T (p.Glu342Asp) c.3492A>T (p.Glu1164Asp) c.656-719A>T (n.656-719A>T) c.3423A>T (p.Glu1141Asp) c.3486A>T (p.Glu1162Asp) c.3474A>T (p.Glu1158Asp) | dbSNP |
2 | g.144389601T>C | CA57549300 | ZEB2 | c.*3344A>G (n.*3344A>G) c.2718A>G (p.Glu906=) c.3495A>G (p.Glu1165=) c.3383A>G (p.Lys1128Arg) n.3464A>G c.3159A>G (p.Glu1053=) c.3570A>G (p.Glu1190=) c.*3212A>G (n.*3212A>G) n.3595A>G c.151+6811A>G (n.151+6811A>G) c.715A>G (n.715A>G) c.1026A>G (p.Glu342=) c.3492A>G (p.Glu1164=) c.656-719A>G (n.656-719A>G) c.3423A>G (p.Glu1141=) c.3486A>G (p.Glu1162=) c.3474A>G (p.Glu1158=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.144389601T>G | CA348699167 | ZEB2 | c.*3344A>C (n.*3344A>C) c.2718A>C (p.Glu906Asp) c.3495A>C (p.Glu1165Asp) c.3383A>C (p.Lys1128Thr) n.3464A>C c.3159A>C (p.Glu1053Asp) c.3570A>C (p.Glu1190Asp) c.*3212A>C (n.*3212A>C) n.3595A>C c.151+6811A>C (n.151+6811A>C) c.715A>C (n.715A>C) c.1026A>C (p.Glu342Asp) c.3492A>C (p.Glu1164Asp) c.656-719A>C (n.656-719A>C) c.3423A>C (p.Glu1141Asp) c.3486A>C (p.Glu1162Asp) c.3474A>C (p.Glu1158Asp) | |
2 | g.144389601T= | CA1294881264 | ZEB2 | c.*3344A= (n.*3344A=) c.2718A= (p.Glu906=) c.3495A= (p.Glu1165=) c.3383A= (p.Lys1128=) n.3464A= c.3159A= (p.Glu1053=) c.3570A= (p.Glu1190=) c.*3212A= (n.*3212A=) n.3595A= c.151+6811A= (n.151+6811A=) c.715A= (n.715A=) c.1026A= (p.Glu342=) c.3492A= (p.Glu1164=) c.656-719A= (n.656-719A=) c.3423A= (p.Glu1141=) c.3486A= (p.Glu1162=) c.3474A= (p.Glu1158=) | |
2 | g.144389602T>A | CA348699169 | ZEB2 | c.*3343A>T (n.*3343A>T) c.2717A>T (p.Glu906Val) c.3494A>T (p.Glu1165Val) c.3382A>T (p.Lys1128Ter) n.3463A>T c.3158A>T (p.Glu1053Val) c.3569A>T (p.Glu1190Val) c.*3211A>T (n.*3211A>T) n.3594A>T c.151+6810A>T (n.151+6810A>T) c.714A>T (n.714A>T) c.1025A>T (p.Glu342Val) c.3491A>T (p.Glu1164Val) c.656-720A>T (n.656-720A>T) c.3422A>T (p.Glu1141Val) c.3485A>T (p.Glu1162Val) c.3473A>T (p.Glu1158Val) | |
2 | g.144389602T>C | CA348699170 | ZEB2 | c.*3343A>G (n.*3343A>G) c.2717A>G (p.Glu906Gly) c.3494A>G (p.Glu1165Gly) c.3382A>G (p.Lys1128Glu) n.3463A>G c.3158A>G (p.Glu1053Gly) c.3569A>G (p.Glu1190Gly) c.*3211A>G (n.*3211A>G) n.3594A>G c.151+6810A>G (n.151+6810A>G) c.714A>G (n.714A>G) c.1025A>G (p.Glu342Gly) c.3491A>G (p.Glu1164Gly) c.656-720A>G (n.656-720A>G) c.3422A>G (p.Glu1141Gly) c.3485A>G (p.Glu1162Gly) c.3473A>G (p.Glu1158Gly) | |
2 | g.144389602T>G | CA348699171 | ZEB2 | c.*3343A>C (n.*3343A>C) c.2717A>C (p.Glu906Ala) c.3494A>C (p.Glu1165Ala) c.3382A>C (p.Lys1128Gln) n.3463A>C c.3158A>C (p.Glu1053Ala) c.3569A>C (p.Glu1190Ala) c.*3211A>C (n.*3211A>C) n.3594A>C c.151+6810A>C (n.151+6810A>C) c.714A>C (n.714A>C) c.1025A>C (p.Glu342Ala) c.3491A>C (p.Glu1164Ala) c.656-720A>C (n.656-720A>C) c.3422A>C (p.Glu1141Ala) c.3485A>C (p.Glu1162Ala) c.3473A>C (p.Glu1158Ala) | |
2 | g.144389603C>A | CA348699172 | ZEB2 | c.*3342G>T (n.*3342G>T) c.2716G>T (p.Glu906Ter) c.3493G>T (p.Glu1165Ter) c.3381G>T (p.Arg1127Ser) n.3462G>T c.3157G>T (p.Glu1053Ter) c.3568G>T (p.Glu1190Ter) c.*3210G>T (n.*3210G>T) n.3593G>T c.151+6809G>T (n.151+6809G>T) c.713G>T (n.713G>T) c.1024G>T (p.Glu342Ter) c.3490G>T (p.Glu1164Ter) c.656-721G>T (n.656-721G>T) c.3421G>T (p.Glu1141Ter) c.3484G>T (p.Glu1162Ter) c.3472G>T (p.Glu1158Ter) | |
2 | g.144389603C>G | CA348699173 | ZEB2 | c.*3342G>C (n.*3342G>C) c.2716G>C (p.Glu906Gln) c.3493G>C (p.Glu1165Gln) c.3381G>C (p.Arg1127Ser) n.3462G>C c.3157G>C (p.Glu1053Gln) c.3568G>C (p.Glu1190Gln) c.*3210G>C (n.*3210G>C) n.3593G>C c.151+6809G>C (n.151+6809G>C) c.713G>C (n.713G>C) c.1024G>C (p.Glu342Gln) c.3490G>C (p.Glu1164Gln) c.656-721G>C (n.656-721G>C) c.3421G>C (p.Glu1141Gln) c.3484G>C (p.Glu1162Gln) c.3472G>C (p.Glu1158Gln) | |
2 | g.144389603C>T | CA348699174 | ZEB2 | c.*3342G>A (n.*3342G>A) c.2716G>A (p.Glu906Lys) c.3493G>A (p.Glu1165Lys) c.3381G>A (p.Arg1127=) n.3462G>A c.3157G>A (p.Glu1053Lys) c.3568G>A (p.Glu1190Lys) c.*3210G>A (n.*3210G>A) n.3593G>A c.151+6809G>A (n.151+6809G>A) c.713G>A (n.713G>A) c.1024G>A (p.Glu342Lys) c.3490G>A (p.Glu1164Lys) c.656-721G>A (n.656-721G>A) c.3421G>A (p.Glu1141Lys) c.3484G>A (p.Glu1162Lys) c.3472G>A (p.Glu1158Lys) | |
2 | g.144389604C>A | CA348699175 | ZEB2 | c.*3341G>T (n.*3341G>T) c.2715G>T (p.Glu905Asp) c.3492G>T (p.Glu1164Asp) c.3380G>T (p.Arg1127Met) n.3461G>T c.3156G>T (p.Glu1052Asp) c.3567G>T (p.Glu1189Asp) c.*3209G>T (n.*3209G>T) n.3592G>T c.151+6808G>T (n.151+6808G>T) c.712G>T (n.712G>T) c.1023G>T (p.Glu341Asp) c.3489G>T (p.Glu1163Asp) c.656-722G>T (n.656-722G>T) c.3420G>T (p.Glu1140Asp) c.3483G>T (p.Glu1161Asp) c.3471G>T (p.Glu1157Asp) | gnomAD v4 COSMIC |
2 | g.144389604C>G | CA348699176 | ZEB2 | c.*3341G>C (n.*3341G>C) c.2715G>C (p.Glu905Asp) c.3492G>C (p.Glu1164Asp) c.3380G>C (p.Arg1127Thr) n.3461G>C c.3156G>C (p.Glu1052Asp) c.3567G>C (p.Glu1189Asp) c.*3209G>C (n.*3209G>C) n.3592G>C c.151+6808G>C (n.151+6808G>C) c.712G>C (n.712G>C) c.1023G>C (p.Glu341Asp) c.3489G>C (p.Glu1163Asp) c.656-722G>C (n.656-722G>C) c.3420G>C (p.Glu1140Asp) c.3483G>C (p.Glu1161Asp) c.3471G>C (p.Glu1157Asp) | ClinVar dbSNP |
2 | g.144389604C>T | CA429441098 | ZEB2 | c.*3341G>A (n.*3341G>A) c.2715G>A (p.Glu905=) c.3492G>A (p.Glu1164=) c.3380G>A (p.Arg1127Lys) n.3461G>A c.3156G>A (p.Glu1052=) c.3567G>A (p.Glu1189=) c.*3209G>A (n.*3209G>A) n.3592G>A c.151+6808G>A (n.151+6808G>A) c.712G>A (n.712G>A) c.1023G>A (p.Glu341=) c.3489G>A (p.Glu1163=) c.656-722G>A (n.656-722G>A) c.3420G>A (p.Glu1140=) c.3483G>A (p.Glu1161=) c.3471G>A (p.Glu1157=) | dbSNP gnomAD v4 |
2 | g.144389605T>A | CA348699177 | ZEB2 | c.*3340A>T (n.*3340A>T) c.2714A>T (p.Glu905Val) c.3491A>T (p.Glu1164Val) c.3379A>T (p.Arg1127Trp) n.3460A>T c.3155A>T (p.Glu1052Val) c.3566A>T (p.Glu1189Val) c.*3208A>T (n.*3208A>T) n.3591A>T c.151+6807A>T (n.151+6807A>T) c.711A>T (n.711A>T) c.1022A>T (p.Glu341Val) c.3488A>T (p.Glu1163Val) c.656-723A>T (n.656-723A>T) c.3419A>T (p.Glu1140Val) c.3482A>T (p.Glu1161Val) c.3470A>T (p.Glu1157Val) | |
2 | g.144389605T>C | CA348699178 | ZEB2 | c.*3340A>G (n.*3340A>G) c.2714A>G (p.Glu905Gly) c.3491A>G (p.Glu1164Gly) c.3379A>G (p.Arg1127Gly) n.3460A>G c.3155A>G (p.Glu1052Gly) c.3566A>G (p.Glu1189Gly) c.*3208A>G (n.*3208A>G) n.3591A>G c.151+6807A>G (n.151+6807A>G) c.711A>G (n.711A>G) c.1022A>G (p.Glu341Gly) c.3488A>G (p.Glu1163Gly) c.656-723A>G (n.656-723A>G) c.3419A>G (p.Glu1140Gly) c.3482A>G (p.Glu1161Gly) c.3470A>G (p.Glu1157Gly) | |
2 | g.144389605T>G | CA348699179 | ZEB2 | c.*3340A>C (n.*3340A>C) c.2714A>C (p.Glu905Ala) c.3491A>C (p.Glu1164Ala) c.3379A>C (p.Arg1127=) n.3460A>C c.3155A>C (p.Glu1052Ala) c.3566A>C (p.Glu1189Ala) c.*3208A>C (n.*3208A>C) n.3591A>C c.151+6807A>C (n.151+6807A>C) c.711A>C (n.711A>C) c.1022A>C (p.Glu341Ala) c.3488A>C (p.Glu1163Ala) c.656-723A>C (n.656-723A>C) c.3419A>C (p.Glu1140Ala) c.3482A>C (p.Glu1161Ala) c.3470A>C (p.Glu1157Ala) | |
2 | g.144389606C>A | CA348699182 | ZEB2 | c.*3339G>T (n.*3339G>T) c.2713G>T (p.Glu905Ter) c.3490G>T (p.Glu1164Ter) c.3378G>T (p.Lys1126Asn) n.3459G>T c.3154G>T (p.Glu1052Ter) c.3565G>T (p.Glu1189Ter) c.*3207G>T (n.*3207G>T) n.3590G>T c.151+6806G>T (n.151+6806G>T) c.710G>T (n.710G>T) c.1021G>T (p.Glu341Ter) c.3487G>T (p.Glu1163Ter) c.656-724G>T (n.656-724G>T) c.3418G>T (p.Glu1140Ter) c.3481G>T (p.Glu1161Ter) c.3469G>T (p.Glu1157Ter) | |
2 | g.144389606C>G | CA348699181 | ZEB2 | c.*3339G>C (n.*3339G>C) c.2713G>C (p.Glu905Gln) c.3490G>C (p.Glu1164Gln) c.3378G>C (p.Lys1126Asn) n.3459G>C c.3154G>C (p.Glu1052Gln) c.3565G>C (p.Glu1189Gln) c.*3207G>C (n.*3207G>C) n.3590G>C c.151+6806G>C (n.151+6806G>C) c.710G>C (n.710G>C) c.1021G>C (p.Glu341Gln) c.3487G>C (p.Glu1163Gln) c.656-724G>C (n.656-724G>C) c.3418G>C (p.Glu1140Gln) c.3481G>C (p.Glu1161Gln) c.3469G>C (p.Glu1157Gln) | |
2 | g.144389606C>T | CA348699180 | ZEB2 | c.*3339G>A (n.*3339G>A) c.2713G>A (p.Glu905Lys) c.3490G>A (p.Glu1164Lys) c.3378G>A (p.Lys1126=) n.3459G>A c.3154G>A (p.Glu1052Lys) c.3565G>A (p.Glu1189Lys) c.*3207G>A (n.*3207G>A) n.3590G>A c.151+6806G>A (n.151+6806G>A) c.710G>A (n.710G>A) c.1021G>A (p.Glu341Lys) c.3487G>A (p.Glu1163Lys) c.656-724G>A (n.656-724G>A) c.3418G>A (p.Glu1140Lys) c.3481G>A (p.Glu1161Lys) c.3469G>A (p.Glu1157Lys) | |
2 | g.144389607T>A | CA348699183 | ZEB2 | c.*3338A>T (n.*3338A>T) c.2712A>T (p.Glu904Asp) c.3489A>T (p.Glu1163Asp) c.3377A>T (p.Lys1126Met) n.3458A>T c.3153A>T (p.Glu1051Asp) c.3564A>T (p.Glu1188Asp) c.*3206A>T (n.*3206A>T) n.3589A>T c.151+6805A>T (n.151+6805A>T) c.709A>T (n.709A>T) c.1020A>T (p.Glu340Asp) c.3486A>T (p.Glu1162Asp) c.656-725A>T (n.656-725A>T) c.3417A>T (p.Glu1139Asp) c.3480A>T (p.Glu1160Asp) c.3468A>T (p.Glu1156Asp) | |
2 | g.144389607T>C | CA429441099 | ZEB2 | c.*3338A>G (n.*3338A>G) c.2712A>G (p.Glu904=) c.3489A>G (p.Glu1163=) c.3377A>G (p.Lys1126Arg) n.3458A>G c.3153A>G (p.Glu1051=) c.3564A>G (p.Glu1188=) c.*3206A>G (n.*3206A>G) n.3589A>G c.151+6805A>G (n.151+6805A>G) c.709A>G (n.709A>G) c.1020A>G (p.Glu340=) c.3486A>G (p.Glu1162=) c.656-725A>G (n.656-725A>G) c.3417A>G (p.Glu1139=) c.3480A>G (p.Glu1160=) c.3468A>G (p.Glu1156=) | ClinVar dbSNP gnomAD v4 COSMIC |
2 | g.144389607T>G | CA348699184 | ZEB2 | c.*3338A>C (n.*3338A>C) c.2712A>C (p.Glu904Asp) c.3489A>C (p.Glu1163Asp) c.3377A>C (p.Lys1126Thr) n.3458A>C c.3153A>C (p.Glu1051Asp) c.3564A>C (p.Glu1188Asp) c.*3206A>C (n.*3206A>C) n.3589A>C c.151+6805A>C (n.151+6805A>C) c.709A>C (n.709A>C) c.1020A>C (p.Glu340Asp) c.3486A>C (p.Glu1162Asp) c.656-725A>C (n.656-725A>C) c.3417A>C (p.Glu1139Asp) c.3480A>C (p.Glu1160Asp) c.3468A>C (p.Glu1156Asp) | |
2 | g.144389607T= | CA1294881265 | ZEB2 | c.*3338A= (n.*3338A=) c.2712A= (p.Glu904=) c.3489A= (p.Glu1163=) c.3377A= (p.Lys1126=) n.3458A= c.3153A= (p.Glu1051=) c.3564A= (p.Glu1188=) c.*3206A= (n.*3206A=) n.3589A= c.151+6805A= (n.151+6805A=) c.709A= (n.709A=) c.1020A= (p.Glu340=) c.3486A= (p.Glu1162=) c.656-725A= (n.656-725A=) c.3417A= (p.Glu1139=) c.3480A= (p.Glu1160=) c.3468A= (p.Glu1156=) | |
2 | g.144389608del | CA2586969976 | ZEB2 | c.*3338del (n.*3338del) c.2712del (p.Glu905ArgfsTer?) c.3489del (p.Glu1164ArgfsTer?) c.3377del (p.Lys1126ArgfsTer5) n.3458del c.3153del (p.Glu1052ArgfsTer?) c.3564del (p.Glu1189ArgfsTer?) c.*3206del (n.*3206del) n.3589del c.151+6805del (n.151+6805del) c.709del (n.709del) c.1020del (p.Glu341ArgfsTer?) c.3486del (p.Glu1163ArgfsTer?) c.656-725del (n.656-725del) c.3417del (p.Glu1140ArgfsTer?) c.3480del (p.Glu1161ArgfsTer?) c.3468del (p.Glu1157ArgfsTer?) | |
2 | g.144389608T>A | CA348699185 | ZEB2 | c.*3337A>T (n.*3337A>T) c.2711A>T (p.Glu904Val) c.3488A>T (p.Glu1163Val) c.3376A>T (p.Lys1126Ter) n.3457A>T c.3152A>T (p.Glu1051Val) c.3563A>T (p.Glu1188Val) c.*3205A>T (n.*3205A>T) n.3588A>T c.151+6804A>T (n.151+6804A>T) c.708A>T (n.708A>T) c.1019A>T (p.Glu340Val) c.3485A>T (p.Glu1162Val) c.656-726A>T (n.656-726A>T) c.3416A>T (p.Glu1139Val) c.3479A>T (p.Glu1160Val) c.3467A>T (p.Glu1156Val) | |
2 | g.144389608T>C | CA348699186 | ZEB2 | c.*3337A>G (n.*3337A>G) c.2711A>G (p.Glu904Gly) c.3488A>G (p.Glu1163Gly) c.3376A>G (p.Lys1126Glu) n.3457A>G c.3152A>G (p.Glu1051Gly) c.3563A>G (p.Glu1188Gly) c.*3205A>G (n.*3205A>G) n.3588A>G c.151+6804A>G (n.151+6804A>G) c.708A>G (n.708A>G) c.1019A>G (p.Glu340Gly) c.3485A>G (p.Glu1162Gly) c.656-726A>G (n.656-726A>G) c.3416A>G (p.Glu1139Gly) c.3479A>G (p.Glu1160Gly) c.3467A>G (p.Glu1156Gly) | |
2 | g.144389608T>G | CA348699187 | ZEB2 | c.*3337A>C (n.*3337A>C) c.2711A>C (p.Glu904Ala) c.3488A>C (p.Glu1163Ala) c.3376A>C (p.Lys1126Gln) n.3457A>C c.3152A>C (p.Glu1051Ala) c.3563A>C (p.Glu1188Ala) c.*3205A>C (n.*3205A>C) n.3588A>C c.151+6804A>C (n.151+6804A>C) c.708A>C (n.708A>C) c.1019A>C (p.Glu340Ala) c.3485A>C (p.Glu1162Ala) c.656-726A>C (n.656-726A>C) c.3416A>C (p.Glu1139Ala) c.3479A>C (p.Glu1160Ala) c.3467A>C (p.Glu1156Ala) | |
2 | g.144389609C>A | CA348699188 | ZEB2 | c.*3336G>T (n.*3336G>T) c.2710G>T (p.Glu904Ter) c.3487G>T (p.Glu1163Ter) c.3375G>T (p.Arg1125Ser) n.3456G>T c.3151G>T (p.Glu1051Ter) c.3562G>T (p.Glu1188Ter) c.*3204G>T (n.*3204G>T) n.3587G>T c.151+6803G>T (n.151+6803G>T) c.707G>T (n.707G>T) c.1018G>T (p.Glu340Ter) c.3484G>T (p.Glu1162Ter) c.656-727G>T (n.656-727G>T) c.3415G>T (p.Glu1139Ter) c.3478G>T (p.Glu1160Ter) c.3466G>T (p.Glu1156Ter) | |
2 | g.144389609C= | CA1294881266 | ZEB2 | c.*3336G= (n.*3336G=) c.2710G= (p.Glu904=) c.3487G= (p.Glu1163=) c.3375G= (p.Arg1125=) n.3456G= c.3151G= (p.Glu1051=) c.3562G= (p.Glu1188=) c.*3204G= (n.*3204G=) n.3587G= c.151+6803G= (n.151+6803G=) c.707G= (n.707G=) c.1018G= (p.Glu340=) c.3484G= (p.Glu1162=) c.656-727G= (n.656-727G=) c.3415G= (p.Glu1139=) c.3478G= (p.Glu1160=) c.3466G= (p.Glu1156=) | |
2 | g.144389609C>G | CA348699189 | ZEB2 | c.*3336G>C (n.*3336G>C) c.2710G>C (p.Glu904Gln) c.3487G>C (p.Glu1163Gln) c.3375G>C (p.Arg1125Ser) n.3456G>C c.3151G>C (p.Glu1051Gln) c.3562G>C (p.Glu1188Gln) c.*3204G>C (n.*3204G>C) n.3587G>C c.151+6803G>C (n.151+6803G>C) c.707G>C (n.707G>C) c.1018G>C (p.Glu340Gln) c.3484G>C (p.Glu1162Gln) c.656-727G>C (n.656-727G>C) c.3415G>C (p.Glu1139Gln) c.3478G>C (p.Glu1160Gln) c.3466G>C (p.Glu1156Gln) | |
2 | g.144389609C>T | CA1898109 | ZEB2 | c.*3336G>A (n.*3336G>A) c.2710G>A (p.Glu904Lys) c.3487G>A (p.Glu1163Lys) c.3375G>A (p.Arg1125=) n.3456G>A c.3151G>A (p.Glu1051Lys) c.3562G>A (p.Glu1188Lys) c.*3204G>A (n.*3204G>A) n.3587G>A c.151+6803G>A (n.151+6803G>A) c.707G>A (n.707G>A) c.1018G>A (p.Glu340Lys) c.3484G>A (p.Glu1162Lys) c.656-727G>A (n.656-727G>A) c.3415G>A (p.Glu1139Lys) c.3478G>A (p.Glu1160Lys) c.3466G>A (p.Glu1156Lys) | dbSNP ExAC |
2 | g.144389610C>A | CA348699190 | ZEB2 | c.*3335G>T (n.*3335G>T) c.2709G>T (p.Glu903Asp) c.3486G>T (p.Glu1162Asp) c.3374G>T (p.Arg1125Met) n.3455G>T c.3150G>T (p.Glu1050Asp) c.3561G>T (p.Glu1187Asp) c.*3203G>T (n.*3203G>T) n.3586G>T c.151+6802G>T (n.151+6802G>T) c.706G>T (n.706G>T) c.1017G>T (p.Glu339Asp) c.3483G>T (p.Glu1161Asp) c.656-728G>T (n.656-728G>T) c.3414G>T (p.Glu1138Asp) c.3477G>T (p.Glu1159Asp) c.3465G>T (p.Glu1155Asp) | |
2 | g.144389610C>G | CA348699191 | ZEB2 | c.*3335G>C (n.*3335G>C) c.2709G>C (p.Glu903Asp) c.3486G>C (p.Glu1162Asp) c.3374G>C (p.Arg1125Thr) n.3455G>C c.3150G>C (p.Glu1050Asp) c.3561G>C (p.Glu1187Asp) c.*3203G>C (n.*3203G>C) n.3586G>C c.151+6802G>C (n.151+6802G>C) c.706G>C (n.706G>C) c.1017G>C (p.Glu339Asp) c.3483G>C (p.Glu1161Asp) c.656-728G>C (n.656-728G>C) c.3414G>C (p.Glu1138Asp) c.3477G>C (p.Glu1159Asp) c.3465G>C (p.Glu1155Asp) | |
2 | g.144389610C>T | CA429441100 | ZEB2 | c.*3335G>A (n.*3335G>A) c.2709G>A (p.Glu903=) c.3486G>A (p.Glu1162=) c.3374G>A (p.Arg1125Lys) n.3455G>A c.3150G>A (p.Glu1050=) c.3561G>A (p.Glu1187=) c.*3203G>A (n.*3203G>A) n.3586G>A c.151+6802G>A (n.151+6802G>A) c.706G>A (n.706G>A) c.1017G>A (p.Glu339=) c.3483G>A (p.Glu1161=) c.656-728G>A (n.656-728G>A) c.3414G>A (p.Glu1138=) c.3477G>A (p.Glu1159=) c.3465G>A (p.Glu1155=) | |
2 | g.144389611T>A | CA348699192 | ZEB2 | c.*3334A>T (n.*3334A>T) c.2708A>T (p.Glu903Val) c.3485A>T (p.Glu1162Val) c.3373A>T (p.Arg1125Trp) n.3454A>T c.3149A>T (p.Glu1050Val) c.3560A>T (p.Glu1187Val) c.*3202A>T (n.*3202A>T) n.3585A>T c.151+6801A>T (n.151+6801A>T) c.705A>T (n.705A>T) c.1016A>T (p.Glu339Val) c.3482A>T (p.Glu1161Val) c.656-729A>T (n.656-729A>T) c.3413A>T (p.Glu1138Val) c.3476A>T (p.Glu1159Val) c.3464A>T (p.Glu1155Val) | |
2 | g.144389611T>C | CA348699193 | ZEB2 | c.*3334A>G (n.*3334A>G) c.2708A>G (p.Glu903Gly) c.3485A>G (p.Glu1162Gly) c.3373A>G (p.Arg1125Gly) n.3454A>G c.3149A>G (p.Glu1050Gly) c.3560A>G (p.Glu1187Gly) c.*3202A>G (n.*3202A>G) n.3585A>G c.151+6801A>G (n.151+6801A>G) c.705A>G (n.705A>G) c.1016A>G (p.Glu339Gly) c.3482A>G (p.Glu1161Gly) c.656-729A>G (n.656-729A>G) c.3413A>G (p.Glu1138Gly) c.3476A>G (p.Glu1159Gly) c.3464A>G (p.Glu1155Gly) | |
2 | g.144389611T>G | CA348699194 | ZEB2 | c.*3334A>C (n.*3334A>C) c.2708A>C (p.Glu903Ala) c.3485A>C (p.Glu1162Ala) c.3373A>C (p.Arg1125=) n.3454A>C c.3149A>C (p.Glu1050Ala) c.3560A>C (p.Glu1187Ala) c.*3202A>C (n.*3202A>C) n.3585A>C c.151+6801A>C (n.151+6801A>C) c.705A>C (n.705A>C) c.1016A>C (p.Glu339Ala) c.3482A>C (p.Glu1161Ala) c.656-729A>C (n.656-729A>C) c.3413A>C (p.Glu1138Ala) c.3476A>C (p.Glu1159Ala) c.3464A>C (p.Glu1155Ala) | |
2 | g.144389612C>A | CA348699197 | ZEB2 | c.*3333G>T (n.*3333G>T) c.2707G>T (p.Glu903Ter) c.3484G>T (p.Glu1162Ter) c.3372G>T (p.Arg1124Ser) n.3453G>T c.3148G>T (p.Glu1050Ter) c.3559G>T (p.Glu1187Ter) c.*3201G>T (n.*3201G>T) n.3584G>T c.151+6800G>T (n.151+6800G>T) c.704G>T (n.704G>T) c.1015G>T (p.Glu339Ter) c.3481G>T (p.Glu1161Ter) c.656-730G>T (n.656-730G>T) c.3412G>T (p.Glu1138Ter) c.3475G>T (p.Glu1159Ter) c.3463G>T (p.Glu1155Ter) | |
2 | g.144389612C>G | CA348699196 | ZEB2 | c.*3333G>C (n.*3333G>C) c.2707G>C (p.Glu903Gln) c.3484G>C (p.Glu1162Gln) c.3372G>C (p.Arg1124Ser) n.3453G>C c.3148G>C (p.Glu1050Gln) c.3559G>C (p.Glu1187Gln) c.*3201G>C (n.*3201G>C) n.3584G>C c.151+6800G>C (n.151+6800G>C) c.704G>C (n.704G>C) c.1015G>C (p.Glu339Gln) c.3481G>C (p.Glu1161Gln) c.656-730G>C (n.656-730G>C) c.3412G>C (p.Glu1138Gln) c.3475G>C (p.Glu1159Gln) c.3463G>C (p.Glu1155Gln) | |
2 | g.144389612C>T | CA348699195 | ZEB2 | c.*3333G>A (n.*3333G>A) c.2707G>A (p.Glu903Lys) c.3484G>A (p.Glu1162Lys) c.3372G>A (p.Arg1124=) n.3453G>A c.3148G>A (p.Glu1050Lys) c.3559G>A (p.Glu1187Lys) c.*3201G>A (n.*3201G>A) n.3584G>A c.151+6800G>A (n.151+6800G>A) c.704G>A (n.704G>A) c.1015G>A (p.Glu339Lys) c.3481G>A (p.Glu1161Lys) c.656-730G>A (n.656-730G>A) c.3412G>A (p.Glu1138Lys) c.3475G>A (p.Glu1159Lys) c.3463G>A (p.Glu1155Lys) | |
2 | g.144389613C>A | CA348699199 | ZEB2 | c.*3332G>T (n.*3332G>T) c.2706G>T (p.Glu902Asp) c.3483G>T (p.Glu1161Asp) c.3371G>T (p.Arg1124Met) n.3452G>T c.3147G>T (p.Glu1049Asp) c.3558G>T (p.Glu1186Asp) c.*3200G>T (n.*3200G>T) n.3583G>T c.151+6799G>T (n.151+6799G>T) c.703G>T (n.703G>T) c.1014G>T (p.Glu338Asp) c.3480G>T (p.Glu1160Asp) c.656-731G>T (n.656-731G>T) c.3411G>T (p.Glu1137Asp) c.3474G>T (p.Glu1158Asp) c.3462G>T (p.Glu1154Asp) | |
2 | g.144389613C>G | CA348699198 | ZEB2 | c.*3332G>C (n.*3332G>C) c.2706G>C (p.Glu902Asp) c.3483G>C (p.Glu1161Asp) c.3371G>C (p.Arg1124Thr) n.3452G>C c.3147G>C (p.Glu1049Asp) c.3558G>C (p.Glu1186Asp) c.*3200G>C (n.*3200G>C) n.3583G>C c.151+6799G>C (n.151+6799G>C) c.703G>C (n.703G>C) c.1014G>C (p.Glu338Asp) c.3480G>C (p.Glu1160Asp) c.656-731G>C (n.656-731G>C) c.3411G>C (p.Glu1137Asp) c.3474G>C (p.Glu1158Asp) c.3462G>C (p.Glu1154Asp) | |
2 | g.144389613C>T | CA429441102 | ZEB2 | c.*3332G>A (n.*3332G>A) c.2706G>A (p.Glu902=) c.3483G>A (p.Glu1161=) c.3371G>A (p.Arg1124Lys) n.3452G>A c.3147G>A (p.Glu1049=) c.3558G>A (p.Glu1186=) c.*3200G>A (n.*3200G>A) n.3583G>A c.151+6799G>A (n.151+6799G>A) c.703G>A (n.703G>A) c.1014G>A (p.Glu338=) c.3480G>A (p.Glu1160=) c.656-731G>A (n.656-731G>A) c.3411G>A (p.Glu1137=) c.3474G>A (p.Glu1158=) c.3462G>A (p.Glu1154=) | gnomAD v4 |
2 | g.144389614T>A | CA348699200 | ZEB2 | c.*3331A>T (n.*3331A>T) c.2705A>T (p.Glu902Val) c.3482A>T (p.Glu1161Val) c.3370A>T (p.Arg1124Trp) n.3451A>T c.3146A>T (p.Glu1049Val) c.3557A>T (p.Glu1186Val) c.*3199A>T (n.*3199A>T) n.3582A>T c.151+6798A>T (n.151+6798A>T) c.702A>T (n.702A>T) c.1013A>T (p.Glu338Val) c.3479A>T (p.Glu1160Val) c.656-732A>T (n.656-732A>T) c.3410A>T (p.Glu1137Val) c.3473A>T (p.Glu1158Val) c.3461A>T (p.Glu1154Val) | |
2 | g.144389614T>C | CA348699201 | ZEB2 | c.*3331A>G (n.*3331A>G) c.2705A>G (p.Glu902Gly) c.3482A>G (p.Glu1161Gly) c.3370A>G (p.Arg1124Gly) n.3451A>G c.3146A>G (p.Glu1049Gly) c.3557A>G (p.Glu1186Gly) c.*3199A>G (n.*3199A>G) n.3582A>G c.151+6798A>G (n.151+6798A>G) c.702A>G (n.702A>G) c.1013A>G (p.Glu338Gly) c.3479A>G (p.Glu1160Gly) c.656-732A>G (n.656-732A>G) c.3410A>G (p.Glu1137Gly) c.3473A>G (p.Glu1158Gly) c.3461A>G (p.Glu1154Gly) | |
2 | g.144389614T>G | CA348699202 | ZEB2 | c.*3331A>C (n.*3331A>C) c.2705A>C (p.Glu902Ala) c.3482A>C (p.Glu1161Ala) c.3370A>C (p.Arg1124=) n.3451A>C c.3146A>C (p.Glu1049Ala) c.3557A>C (p.Glu1186Ala) c.*3199A>C (n.*3199A>C) n.3582A>C c.151+6798A>C (n.151+6798A>C) c.702A>C (n.702A>C) c.1013A>C (p.Glu338Ala) c.3479A>C (p.Glu1160Ala) c.656-732A>C (n.656-732A>C) c.3410A>C (p.Glu1137Ala) c.3473A>C (p.Glu1158Ala) c.3461A>C (p.Glu1154Ala) | |
2 | g.144389615C>A | CA348699203 | ZEB2 | c.*3330G>T (n.*3330G>T) c.2704G>T (p.Glu902Ter) c.3481G>T (p.Glu1161Ter) c.3369G>T (p.Ser1123=) n.3450G>T c.3145G>T (p.Glu1049Ter) c.3556G>T (p.Glu1186Ter) c.*3198G>T (n.*3198G>T) n.3581G>T c.151+6797G>T (n.151+6797G>T) c.701G>T (n.701G>T) c.1012G>T (p.Glu338Ter) c.3478G>T (p.Glu1160Ter) c.656-733G>T (n.656-733G>T) c.3409G>T (p.Glu1137Ter) c.3472G>T (p.Glu1158Ter) c.3460G>T (p.Glu1154Ter) | |
2 | g.144389615C>G | CA348699204 | ZEB2 | c.*3330G>C (n.*3330G>C) c.2704G>C (p.Glu902Gln) c.3481G>C (p.Glu1161Gln) c.3369G>C (p.Ser1123=) n.3450G>C c.3145G>C (p.Glu1049Gln) c.3556G>C (p.Glu1186Gln) c.*3198G>C (n.*3198G>C) n.3581G>C c.151+6797G>C (n.151+6797G>C) c.701G>C (n.701G>C) c.1012G>C (p.Glu338Gln) c.3478G>C (p.Glu1160Gln) c.656-733G>C (n.656-733G>C) c.3409G>C (p.Glu1137Gln) c.3472G>C (p.Glu1158Gln) c.3460G>C (p.Glu1154Gln) | |
2 | g.144389615C>T | CA348699205 | ZEB2 | c.*3330G>A (n.*3330G>A) c.2704G>A (p.Glu902Lys) c.3481G>A (p.Glu1161Lys) c.3369G>A (p.Ser1123=) n.3450G>A c.3145G>A (p.Glu1049Lys) c.3556G>A (p.Glu1186Lys) c.*3198G>A (n.*3198G>A) n.3581G>A c.151+6797G>A (n.151+6797G>A) c.701G>A (n.701G>A) c.1012G>A (p.Glu338Lys) c.3478G>A (p.Glu1160Lys) c.656-733G>A (n.656-733G>A) c.3409G>A (p.Glu1137Lys) c.3472G>A (p.Glu1158Lys) c.3460G>A (p.Glu1154Lys) | gnomAD v4 |
2 | g.144389616G>A | CA429441103 | ZEB2 | c.*3329C>T (n.*3329C>T) c.2703C>T (p.Phe901=) c.3480C>T (p.Phe1160=) c.3368C>T (p.Ser1123Leu) n.3449C>T c.3144C>T (p.Phe1048=) c.3555C>T (p.Phe1185=) c.*3197C>T (n.*3197C>T) n.3580C>T c.151+6796C>T (n.151+6796C>T) c.700C>T (n.700C>T) c.1011C>T (p.Phe337=) c.3477C>T (p.Phe1159=) c.656-734C>T (n.656-734C>T) c.3408C>T (p.Phe1136=) c.3471C>T (p.Phe1157=) c.3459C>T (p.Phe1153=) | ClinVar dbSNP gnomAD v4 COSMIC |
2 | g.144389616G>C | CA348699206 | ZEB2 | c.*3329C>G (n.*3329C>G) c.2703C>G (p.Phe901Leu) c.3480C>G (p.Phe1160Leu) c.3368C>G (p.Ser1123Trp) n.3449C>G c.3144C>G (p.Phe1048Leu) c.3555C>G (p.Phe1185Leu) c.*3197C>G (n.*3197C>G) n.3580C>G c.151+6796C>G (n.151+6796C>G) c.700C>G (n.700C>G) c.1011C>G (p.Phe337Leu) c.3477C>G (p.Phe1159Leu) c.656-734C>G (n.656-734C>G) c.3408C>G (p.Phe1136Leu) c.3471C>G (p.Phe1157Leu) c.3459C>G (p.Phe1153Leu) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.144389616G= | CA1294881267 | ZEB2 | c.*3329C= (n.*3329C=) c.2703C= (p.Phe901=) c.3480C= (p.Phe1160=) c.3368C= (p.Ser1123=) n.3449C= c.3144C= (p.Phe1048=) c.3555C= (p.Phe1185=) c.*3197C= (n.*3197C=) n.3580C= c.151+6796C= (n.151+6796C=) c.700C= (n.700C=) c.1011C= (p.Phe337=) c.3477C= (p.Phe1159=) c.656-734C= (n.656-734C=) c.3408C= (p.Phe1136=) c.3471C= (p.Phe1157=) c.3459C= (p.Phe1153=) | |
2 | g.144389616G>T | CA348699207 | ZEB2 | c.*3329C>A (n.*3329C>A) c.2703C>A (p.Phe901Leu) c.3480C>A (p.Phe1160Leu) c.3368C>A (p.Ser1123Ter) n.3449C>A c.3144C>A (p.Phe1048Leu) c.3555C>A (p.Phe1185Leu) c.*3197C>A (n.*3197C>A) n.3580C>A c.151+6796C>A (n.151+6796C>A) c.700C>A (n.700C>A) c.1011C>A (p.Phe337Leu) c.3477C>A (p.Phe1159Leu) c.656-734C>A (n.656-734C>A) c.3408C>A (p.Phe1136Leu) c.3471C>A (p.Phe1157Leu) c.3459C>A (p.Phe1153Leu) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.144389616_144389618delinsTTC | CA2739271216 | ZEB2 | c.*3327_*3329delinsGAA (n.*3327_*3329delinsGAA) c.2701_2703delinsGAA (p.Phe901Glu) c.3478_3480delinsGAA (p.Phe1160Glu) c.3366_3368delinsGAA (p.Ser1122_Ser1123delinsArgLys) n.3447_3449delinsGAA c.3142_3144delinsGAA (p.Phe1048Glu) c.3553_3555delinsGAA (p.Phe1185Glu) c.*3195_*3197delinsGAA (n.*3195_*3197delinsGAA) n.3578_3580delinsGAA c.151+6794_151+6796delinsGAA (n.151+6794_151+6796delinsGAA) c.698_700delinsGAA (n.698_700delinsGAA) c.1009_1011delinsGAA (p.Phe337Glu) c.3475_3477delinsGAA (p.Phe1159Glu) c.656-736_656-734delinsGAA (n.656-736_656-734delinsGAA) c.3406_3408delinsGAA (p.Phe1136Glu) c.3469_3471delinsGAA (p.Phe1157Glu) c.3457_3459delinsGAA (p.Phe1153Glu) | ClinVar |
2 | g.144389617A= | CA1294881268 | ZEB2 | c.*3328T= (n.*3328T=) c.2702T= (p.Phe901=) c.3479T= (p.Phe1160=) c.3367T= (p.Ser1123=) n.3448T= c.3143T= (p.Phe1048=) c.3554T= (p.Phe1185=) c.*3196T= (n.*3196T=) n.3579T= c.151+6795T= (n.151+6795T=) c.699T= (n.699T=) c.1010T= (p.Phe337=) c.3476T= (p.Phe1159=) c.656-735T= (n.656-735T=) c.3407T= (p.Phe1136=) c.3470T= (p.Phe1157=) c.3458T= (p.Phe1153=) | |
2 | g.144389617A>C | CA348699208 | ZEB2 | c.*3328T>G (n.*3328T>G) c.2702T>G (p.Phe901Cys) c.3479T>G (p.Phe1160Cys) c.3367T>G (p.Ser1123Ala) n.3448T>G c.3143T>G (p.Phe1048Cys) c.3554T>G (p.Phe1185Cys) c.*3196T>G (n.*3196T>G) n.3579T>G c.151+6795T>G (n.151+6795T>G) c.699T>G (n.699T>G) c.1010T>G (p.Phe337Cys) c.3476T>G (p.Phe1159Cys) c.656-735T>G (n.656-735T>G) c.3407T>G (p.Phe1136Cys) c.3470T>G (p.Phe1157Cys) c.3458T>G (p.Phe1153Cys) | |
2 | g.144389617A>G | CA348699209 | ZEB2 | c.*3328T>C (n.*3328T>C) c.2702T>C (p.Phe901Ser) c.3479T>C (p.Phe1160Ser) c.3367T>C (p.Ser1123Pro) n.3448T>C c.3143T>C (p.Phe1048Ser) c.3554T>C (p.Phe1185Ser) c.*3196T>C (n.*3196T>C) n.3579T>C c.151+6795T>C (n.151+6795T>C) c.699T>C (n.699T>C) c.1010T>C (p.Phe337Ser) c.3476T>C (p.Phe1159Ser) c.656-735T>C (n.656-735T>C) c.3407T>C (p.Phe1136Ser) c.3470T>C (p.Phe1157Ser) c.3458T>C (p.Phe1153Ser) | |
2 | g.144389617A>T | CA348699210 | ZEB2 | c.*3328T>A (n.*3328T>A) c.2702T>A (p.Phe901Tyr) c.3479T>A (p.Phe1160Tyr) c.3367T>A (p.Ser1123Thr) n.3448T>A c.3143T>A (p.Phe1048Tyr) c.3554T>A (p.Phe1185Tyr) c.*3196T>A (n.*3196T>A) n.3579T>A c.151+6795T>A (n.151+6795T>A) c.699T>A (n.699T>A) c.1010T>A (p.Phe337Tyr) c.3476T>A (p.Phe1159Tyr) c.656-735T>A (n.656-735T>A) c.3407T>A (p.Phe1136Tyr) c.3470T>A (p.Phe1157Tyr) c.3458T>A (p.Phe1153Tyr) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.144389618A= | CA1294881269 | ZEB2 | c.*3327T= (n.*3327T=) c.2701T= (p.Phe901=) c.3478T= (p.Phe1160=) c.3366T= (p.Ser1122=) n.3447T= c.3142T= (p.Phe1048=) c.3553T= (p.Phe1185=) c.*3195T= (n.*3195T=) n.3578T= c.151+6794T= (n.151+6794T=) c.698T= (n.698T=) c.1009T= (p.Phe337=) c.3475T= (p.Phe1159=) c.656-736T= (n.656-736T=) c.3406T= (p.Phe1136=) c.3469T= (p.Phe1157=) c.3457T= (p.Phe1153=) | |
2 | g.144389618A>C | CA348699212 | ZEB2 | c.*3327T>G (n.*3327T>G) c.2701T>G (p.Phe901Val) c.3478T>G (p.Phe1160Val) c.3366T>G (p.Ser1122Arg) n.3447T>G c.3142T>G (p.Phe1048Val) c.3553T>G (p.Phe1185Val) c.*3195T>G (n.*3195T>G) n.3578T>G c.151+6794T>G (n.151+6794T>G) c.698T>G (n.698T>G) c.1009T>G (p.Phe337Val) c.3475T>G (p.Phe1159Val) c.656-736T>G (n.656-736T>G) c.3406T>G (p.Phe1136Val) c.3469T>G (p.Phe1157Val) c.3457T>G (p.Phe1153Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.144389618A>G | CA348699213 | ZEB2 | c.*3327T>C (n.*3327T>C) c.2701T>C (p.Phe901Leu) c.3478T>C (p.Phe1160Leu) c.3366T>C (p.Ser1122=) n.3447T>C c.3142T>C (p.Phe1048Leu) c.3553T>C (p.Phe1185Leu) c.*3195T>C (n.*3195T>C) n.3578T>C c.151+6794T>C (n.151+6794T>C) c.698T>C (n.698T>C) c.1009T>C (p.Phe337Leu) c.3475T>C (p.Phe1159Leu) c.656-736T>C (n.656-736T>C) c.3406T>C (p.Phe1136Leu) c.3469T>C (p.Phe1157Leu) c.3457T>C (p.Phe1153Leu) | |
2 | g.144389618A>T | CA348699211 | ZEB2 | c.*3327T>A (n.*3327T>A) c.2701T>A (p.Phe901Ile) c.3478T>A (p.Phe1160Ile) c.3366T>A (p.Ser1122Arg) n.3447T>A c.3142T>A (p.Phe1048Ile) c.3553T>A (p.Phe1185Ile) c.*3195T>A (n.*3195T>A) n.3578T>A c.151+6794T>A (n.151+6794T>A) c.698T>A (n.698T>A) c.1009T>A (p.Phe337Ile) c.3475T>A (p.Phe1159Ile) c.656-736T>A (n.656-736T>A) c.3406T>A (p.Phe1136Ile) c.3469T>A (p.Phe1157Ile) c.3457T>A (p.Phe1153Ile) | gnomAD v3 gnomAD v4 |
2 | g.144389619C>A | CA348699214 | ZEB2 | c.*3326G>T (n.*3326G>T) c.2700G>T (p.Glu900Asp) c.3477G>T (p.Glu1159Asp) c.3365G>T (p.Ser1122Ile) n.3446G>T c.3141G>T (p.Glu1047Asp) c.3552G>T (p.Glu1184Asp) c.*3194G>T (n.*3194G>T) n.3577G>T c.151+6793G>T (n.151+6793G>T) c.697G>T (n.697G>T) c.1008G>T (p.Glu336Asp) c.3474G>T (p.Glu1158Asp) c.656-737G>T (n.656-737G>T) c.3405G>T (p.Glu1135Asp) c.3468G>T (p.Glu1156Asp) c.3456G>T (p.Glu1152Asp) | |
2 | g.144389619C= | CA1294881270 | ZEB2 | c.*3326G= (n.*3326G=) c.2700G= (p.Glu900=) c.3477G= (p.Glu1159=) c.3365G= (p.Ser1122=) n.3446G= c.3141G= (p.Glu1047=) c.3552G= (p.Glu1184=) c.*3194G= (n.*3194G=) n.3577G= c.151+6793G= (n.151+6793G=) c.697G= (n.697G=) c.1008G= (p.Glu336=) c.3474G= (p.Glu1158=) c.656-737G= (n.656-737G=) c.3405G= (p.Glu1135=) c.3468G= (p.Glu1156=) c.3456G= (p.Glu1152=) | |
2 | g.144389619C>G | CA348699215 | ZEB2 | c.*3326G>C (n.*3326G>C) c.2700G>C (p.Glu900Asp) c.3477G>C (p.Glu1159Asp) c.3365G>C (p.Ser1122Thr) n.3446G>C c.3141G>C (p.Glu1047Asp) c.3552G>C (p.Glu1184Asp) c.*3194G>C (n.*3194G>C) n.3577G>C c.151+6793G>C (n.151+6793G>C) c.697G>C (n.697G>C) c.1008G>C (p.Glu336Asp) c.3474G>C (p.Glu1158Asp) c.656-737G>C (n.656-737G>C) c.3405G>C (p.Glu1135Asp) c.3468G>C (p.Glu1156Asp) c.3456G>C (p.Glu1152Asp) | |
2 | g.144389619C>T | CA1898110 | ZEB2 | c.*3326G>A (n.*3326G>A) c.2700G>A (p.Glu900=) c.3477G>A (p.Glu1159=) c.3365G>A (p.Ser1122Asn) n.3446G>A c.3141G>A (p.Glu1047=) c.3552G>A (p.Glu1184=) c.*3194G>A (n.*3194G>A) n.3577G>A c.151+6793G>A (n.151+6793G>A) c.697G>A (n.697G>A) c.1008G>A (p.Glu336=) c.3474G>A (p.Glu1158=) c.656-737G>A (n.656-737G>A) c.3405G>A (p.Glu1135=) c.3468G>A (p.Glu1156=) c.3456G>A (p.Glu1152=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.144389620T>A | CA348699216 | ZEB2 | c.*3325A>T (n.*3325A>T) c.2699A>T (p.Glu900Val) c.3476A>T (p.Glu1159Val) c.3364A>T (p.Ser1122Cys) n.3445A>T c.3140A>T (p.Glu1047Val) c.3551A>T (p.Glu1184Val) c.*3193A>T (n.*3193A>T) n.3576A>T c.151+6792A>T (n.151+6792A>T) c.696A>T (n.696A>T) c.1007A>T (p.Glu336Val) c.3473A>T (p.Glu1158Val) c.656-738A>T (n.656-738A>T) c.3404A>T (p.Glu1135Val) c.3467A>T (p.Glu1156Val) c.3455A>T (p.Glu1152Val) | |
2 | g.144389620T>C | CA348699217 | ZEB2 | c.*3325A>G (n.*3325A>G) c.2699A>G (p.Glu900Gly) c.3476A>G (p.Glu1159Gly) c.3364A>G (p.Ser1122Gly) n.3445A>G c.3140A>G (p.Glu1047Gly) c.3551A>G (p.Glu1184Gly) c.*3193A>G (n.*3193A>G) n.3576A>G c.151+6792A>G (n.151+6792A>G) c.696A>G (n.696A>G) c.1007A>G (p.Glu336Gly) c.3473A>G (p.Glu1158Gly) c.656-738A>G (n.656-738A>G) c.3404A>G (p.Glu1135Gly) c.3467A>G (p.Glu1156Gly) c.3455A>G (p.Glu1152Gly) | |
2 | g.144389620T>G | CA348699218 | ZEB2 | c.*3325A>C (n.*3325A>C) c.2699A>C (p.Glu900Ala) c.3476A>C (p.Glu1159Ala) c.3364A>C (p.Ser1122Arg) n.3445A>C c.3140A>C (p.Glu1047Ala) c.3551A>C (p.Glu1184Ala) c.*3193A>C (n.*3193A>C) n.3576A>C c.151+6792A>C (n.151+6792A>C) c.696A>C (n.696A>C) c.1007A>C (p.Glu336Ala) c.3473A>C (p.Glu1158Ala) c.656-738A>C (n.656-738A>C) c.3404A>C (p.Glu1135Ala) c.3467A>C (p.Glu1156Ala) c.3455A>C (p.Glu1152Ala) | |
2 | g.144389621C>A | CA348699219 | ZEB2 | c.*3324G>T (n.*3324G>T) c.2698G>T (p.Glu900Ter) c.3475G>T (p.Glu1159Ter) c.3363G>T (p.Arg1121Ser) n.3444G>T c.3139G>T (p.Glu1047Ter) c.3550G>T (p.Glu1184Ter) c.*3192G>T (n.*3192G>T) n.3575G>T c.151+6791G>T (n.151+6791G>T) c.695G>T (n.695G>T) c.1006G>T (p.Glu336Ter) c.3472G>T (p.Glu1158Ter) c.656-739G>T (n.656-739G>T) c.3403G>T (p.Glu1135Ter) c.3466G>T (p.Glu1156Ter) c.3454G>T (p.Glu1152Ter) | |
2 | g.144389621C>G | CA348699221 | ZEB2 | c.*3324G>C (n.*3324G>C) c.2698G>C (p.Glu900Gln) c.3475G>C (p.Glu1159Gln) c.3363G>C (p.Arg1121Ser) n.3444G>C c.3139G>C (p.Glu1047Gln) c.3550G>C (p.Glu1184Gln) c.*3192G>C (n.*3192G>C) n.3575G>C c.151+6791G>C (n.151+6791G>C) c.695G>C (n.695G>C) c.1006G>C (p.Glu336Gln) c.3472G>C (p.Glu1158Gln) c.656-739G>C (n.656-739G>C) c.3403G>C (p.Glu1135Gln) c.3466G>C (p.Glu1156Gln) c.3454G>C (p.Glu1152Gln) | |
2 | g.144389621C>T | CA348699220 | ZEB2 | c.*3324G>A (n.*3324G>A) c.2698G>A (p.Glu900Lys) c.3475G>A (p.Glu1159Lys) c.3363G>A (p.Arg1121=) n.3444G>A c.3139G>A (p.Glu1047Lys) c.3550G>A (p.Glu1184Lys) c.*3192G>A (n.*3192G>A) n.3575G>A c.151+6791G>A (n.151+6791G>A) c.695G>A (n.695G>A) c.1006G>A (p.Glu336Lys) c.3472G>A (p.Glu1158Lys) c.656-739G>A (n.656-739G>A) c.3403G>A (p.Glu1135Lys) c.3466G>A (p.Glu1156Lys) c.3454G>A (p.Glu1152Lys) | |
2 | g.144389622C>A | CA348699222 | ZEB2 | c.*3323G>T (n.*3323G>T) c.2697G>T (p.Glu899Asp) c.3474G>T (p.Glu1158Asp) c.3362G>T (p.Arg1121Met) n.3443G>T c.3138G>T (p.Glu1046Asp) c.3549G>T (p.Glu1183Asp) c.*3191G>T (n.*3191G>T) n.3574G>T c.151+6790G>T (n.151+6790G>T) c.694G>T (n.694G>T) c.1005G>T (p.Glu335Asp) c.3471G>T (p.Glu1157Asp) c.656-740G>T (n.656-740G>T) c.3402G>T (p.Glu1134Asp) c.3465G>T (p.Glu1155Asp) c.3453G>T (p.Glu1151Asp) | |
2 | g.144389622C= | CA1294881271 | ZEB2 | c.*3323G= (n.*3323G=) c.2697G= (p.Glu899=) c.3474G= (p.Glu1158=) c.3362G= (p.Arg1121=) n.3443G= c.3138G= (p.Glu1046=) c.3549G= (p.Glu1183=) c.*3191G= (n.*3191G=) n.3574G= c.151+6790G= (n.151+6790G=) c.694G= (n.694G=) c.1005G= (p.Glu335=) c.3471G= (p.Glu1157=) c.656-740G= (n.656-740G=) c.3402G= (p.Glu1134=) c.3465G= (p.Glu1155=) c.3453G= (p.Glu1151=) | |
2 | g.144389622C>G | CA348699223 | ZEB2 | c.*3323G>C (n.*3323G>C) c.2697G>C (p.Glu899Asp) c.3474G>C (p.Glu1158Asp) c.3362G>C (p.Arg1121Thr) n.3443G>C c.3138G>C (p.Glu1046Asp) c.3549G>C (p.Glu1183Asp) c.*3191G>C (n.*3191G>C) n.3574G>C c.151+6790G>C (n.151+6790G>C) c.694G>C (n.694G>C) c.1005G>C (p.Glu335Asp) c.3471G>C (p.Glu1157Asp) c.656-740G>C (n.656-740G>C) c.3402G>C (p.Glu1134Asp) c.3465G>C (p.Glu1155Asp) c.3453G>C (p.Glu1151Asp) | |
2 | g.144389622C>T | CA429441104 | ZEB2 | c.*3323G>A (n.*3323G>A) c.2697G>A (p.Glu899=) c.3474G>A (p.Glu1158=) c.3362G>A (p.Arg1121Lys) n.3443G>A c.3138G>A (p.Glu1046=) c.3549G>A (p.Glu1183=) c.*3191G>A (n.*3191G>A) n.3574G>A c.151+6790G>A (n.151+6790G>A) c.694G>A (n.694G>A) c.1005G>A (p.Glu335=) c.3471G>A (p.Glu1157=) c.656-740G>A (n.656-740G>A) c.3402G>A (p.Glu1134=) c.3465G>A (p.Glu1155=) c.3453G>A (p.Glu1151=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.144389623_144389624dup | CA2586969977 | ZEB2 | c.*3322_*3323dup (n.*3322_*3323dup) c.2696_2697dup (p.Glu900ArgfsTer?) c.3473_3474dup (p.Glu1159ArgfsTer?) c.3361_3362dup (p.Ser1122GlyfsTer10) n.3442_3443dup c.3137_3138dup (p.Glu1047ArgfsTer?) c.3548_3549dup (p.Glu1184ArgfsTer?) c.*3190_*3191dup (n.*3190_*3191dup) n.3573_3574dup c.151+6789_151+6790dup (n.151+6789_151+6790dup) c.693_694dup (n.693_694dup) c.1004_1005dup (p.Glu336ArgfsTer?) c.3470_3471dup (p.Glu1158ArgfsTer?) c.656-741_656-740dup (n.656-741_656-740dup) c.3401_3402dup (p.Glu1135ArgfsTer?) c.3464_3465dup (p.Glu1156ArgfsTer?) c.3452_3453dup (p.Glu1152ArgfsTer?) | |
2 | g.144389623T>A | CA348699224 | ZEB2 | c.*3322A>T (n.*3322A>T) c.2696A>T (p.Glu899Val) c.3473A>T (p.Glu1158Val) c.3361A>T (p.Arg1121Trp) n.3442A>T c.3137A>T (p.Glu1046Val) c.3548A>T (p.Glu1183Val) c.*3190A>T (n.*3190A>T) n.3573A>T c.151+6789A>T (n.151+6789A>T) c.693A>T (n.693A>T) c.1004A>T (p.Glu335Val) c.3470A>T (p.Glu1157Val) c.656-741A>T (n.656-741A>T) c.3401A>T (p.Glu1134Val) c.3464A>T (p.Glu1155Val) c.3452A>T (p.Glu1151Val) | |
2 | g.144389623T>C | CA348699225 | ZEB2 | c.*3322A>G (n.*3322A>G) c.2696A>G (p.Glu899Gly) c.3473A>G (p.Glu1158Gly) c.3361A>G (p.Arg1121Gly) n.3442A>G c.3137A>G (p.Glu1046Gly) c.3548A>G (p.Glu1183Gly) c.*3190A>G (n.*3190A>G) n.3573A>G c.151+6789A>G (n.151+6789A>G) c.693A>G (n.693A>G) c.1004A>G (p.Glu335Gly) c.3470A>G (p.Glu1157Gly) c.656-741A>G (n.656-741A>G) c.3401A>G (p.Glu1134Gly) c.3464A>G (p.Glu1155Gly) c.3452A>G (p.Glu1151Gly) | |
2 | g.144389623T>G | CA348699226 | ZEB2 | c.*3322A>C (n.*3322A>C) c.2696A>C (p.Glu899Ala) c.3473A>C (p.Glu1158Ala) c.3361A>C (p.Arg1121=) n.3442A>C c.3137A>C (p.Glu1046Ala) c.3548A>C (p.Glu1183Ala) c.*3190A>C (n.*3190A>C) n.3573A>C c.151+6789A>C (n.151+6789A>C) c.693A>C (n.693A>C) c.1004A>C (p.Glu335Ala) c.3470A>C (p.Glu1157Ala) c.656-741A>C (n.656-741A>C) c.3401A>C (p.Glu1134Ala) c.3464A>C (p.Glu1155Ala) c.3452A>C (p.Glu1151Ala) | |
2 | g.144389626_144389628del | CA2577152055 | ZEB2 | c.*3320_*3322del (n.*3320_*3322del) c.2694_2696del (p.Asp898del) c.3471_3473del (p.Asp1157del) c.3359_3361del (p.Thr1120del) n.3440_3442del c.3135_3137del (p.Asp1045del) c.3546_3548del (p.Asp1182del) c.*3188_*3190del (n.*3188_*3190del) n.3571_3573del c.151+6787_151+6789del (n.151+6787_151+6789del) c.691_693del (n.691_693del) c.1002_1004del (p.Asp334del) c.3468_3470del (p.Asp1156del) c.656-743_656-741del (n.656-743_656-741del) c.3399_3401del (p.Asp1133del) c.3462_3464del (p.Asp1154del) c.3450_3452del (p.Asp1150del) | |
2 | g.144389624C>A | CA348699228 | ZEB2 | c.*3321G>T (n.*3321G>T) c.2695G>T (p.Glu899Ter) c.3472G>T (p.Glu1158Ter) c.3360G>T (p.Thr1120=) n.3441G>T c.3136G>T (p.Glu1046Ter) c.3547G>T (p.Glu1183Ter) c.*3189G>T (n.*3189G>T) n.3572G>T c.151+6788G>T (n.151+6788G>T) c.692G>T (n.692G>T) c.1003G>T (p.Glu335Ter) c.3469G>T (p.Glu1157Ter) c.656-742G>T (n.656-742G>T) c.3400G>T (p.Glu1134Ter) c.3463G>T (p.Glu1155Ter) c.3451G>T (p.Glu1151Ter) | |
2 | g.144389624C>G | CA348699229 | ZEB2 | c.*3321G>C (n.*3321G>C) c.2695G>C (p.Glu899Gln) c.3472G>C (p.Glu1158Gln) c.3360G>C (p.Thr1120=) n.3441G>C c.3136G>C (p.Glu1046Gln) c.3547G>C (p.Glu1183Gln) c.*3189G>C (n.*3189G>C) n.3572G>C c.151+6788G>C (n.151+6788G>C) c.692G>C (n.692G>C) c.1003G>C (p.Glu335Gln) c.3469G>C (p.Glu1157Gln) c.656-742G>C (n.656-742G>C) c.3400G>C (p.Glu1134Gln) c.3463G>C (p.Glu1155Gln) c.3451G>C (p.Glu1151Gln) | |
2 | g.144389624C>T | CA348699227 | ZEB2 | c.*3321G>A (n.*3321G>A) c.2695G>A (p.Glu899Lys) c.3472G>A (p.Glu1158Lys) c.3360G>A (p.Thr1120=) n.3441G>A c.3136G>A (p.Glu1046Lys) c.3547G>A (p.Glu1183Lys) c.*3189G>A (n.*3189G>A) n.3572G>A c.151+6788G>A (n.151+6788G>A) c.692G>A (n.692G>A) c.1003G>A (p.Glu335Lys) c.3469G>A (p.Glu1157Lys) c.656-742G>A (n.656-742G>A) c.3400G>A (p.Glu1134Lys) c.3463G>A (p.Glu1155Lys) c.3451G>A (p.Glu1151Lys) | |
2 | g.144389625del | CA658766349 | ZEB2 | c.*3320del (n.*3320del) c.2694del (p.Asp898GlufsTer?) c.3471del (p.Asp1157GlufsTer?) c.3359del (p.Thr1120ArgfsTer11) n.3440del c.3135del (p.Asp1045GlufsTer?) c.3546del (p.Asp1182GlufsTer?) c.*3188del (n.*3188del) n.3571del c.151+6787del (n.151+6787del) c.691del (n.691del) c.1002del (p.Asp334GlufsTer?) c.3468del (p.Asp1156GlufsTer?) c.656-743del (n.656-743del) c.3399del (p.Asp1133GlufsTer?) c.3462del (p.Asp1154GlufsTer?) c.3450del (p.Asp1150GlufsTer?) | |
2 | g.144389625G>A | CA148681 | ZEB2 | c.*3320C>T (n.*3320C>T) c.2694C>T (p.Asp898=) c.3471C>T (p.Asp1157=) c.3359C>T (p.Thr1120Met) n.3440C>T c.3135C>T (p.Asp1045=) c.3546C>T (p.Asp1182=) c.*3188C>T (n.*3188C>T) n.3571C>T c.151+6787C>T (n.151+6787C>T) c.691C>T (n.691C>T) c.1002C>T (p.Asp334=) c.3468C>T (p.Asp1156=) c.656-743C>T (n.656-743C>T) c.3399C>T (p.Asp1133=) c.3462C>T (p.Asp1154=) c.3450C>T (p.Asp1150=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.144389625G>C | CA348699231 | ZEB2 | c.*3320C>G (n.*3320C>G) c.2694C>G (p.Asp898Glu) c.3471C>G (p.Asp1157Glu) c.3359C>G (p.Thr1120Arg) n.3440C>G c.3135C>G (p.Asp1045Glu) c.3546C>G (p.Asp1182Glu) c.*3188C>G (n.*3188C>G) n.3571C>G c.151+6787C>G (n.151+6787C>G) c.691C>G (n.691C>G) c.1002C>G (p.Asp334Glu) c.3468C>G (p.Asp1156Glu) c.656-743C>G (n.656-743C>G) c.3399C>G (p.Asp1133Glu) c.3462C>G (p.Asp1154Glu) c.3450C>G (p.Asp1150Glu) | |
2 | g.144389625G= | CA1294881272 | ZEB2 | c.*3320C= (n.*3320C=) c.2694C= (p.Asp898=) c.3471C= (p.Asp1157=) c.3359C= (p.Thr1120=) n.3440C= c.3135C= (p.Asp1045=) c.3546C= (p.Asp1182=) c.*3188C= (n.*3188C=) n.3571C= c.151+6787C= (n.151+6787C=) c.691C= (n.691C=) c.1002C= (p.Asp334=) c.3468C= (p.Asp1156=) c.656-743C= (n.656-743C=) c.3399C= (p.Asp1133=) c.3462C= (p.Asp1154=) c.3450C= (p.Asp1150=) | |
2 | g.144389625G>T | CA348699230 | ZEB2 | c.*3320C>A (n.*3320C>A) c.2694C>A (p.Asp898Glu) c.3471C>A (p.Asp1157Glu) c.3359C>A (p.Thr1120Lys) n.3440C>A c.3135C>A (p.Asp1045Glu) c.3546C>A (p.Asp1182Glu) c.*3188C>A (n.*3188C>A) n.3571C>A c.151+6787C>A (n.151+6787C>A) c.691C>A (n.691C>A) c.1002C>A (p.Asp334Glu) c.3468C>A (p.Asp1156Glu) c.656-743C>A (n.656-743C>A) c.3399C>A (p.Asp1133Glu) c.3462C>A (p.Asp1154Glu) c.3450C>A (p.Asp1150Glu) | gnomAD v4 |
2 | g.144389626T>A | CA348699232 | ZEB2 | c.*3319A>T (n.*3319A>T) c.2693A>T (p.Asp898Val) c.3470A>T (p.Asp1157Val) c.3358A>T (p.Thr1120Ser) n.3439A>T c.3134A>T (p.Asp1045Val) c.3545A>T (p.Asp1182Val) c.*3187A>T (n.*3187A>T) n.3570A>T c.151+6786A>T (n.151+6786A>T) c.690A>T (n.690A>T) c.1001A>T (p.Asp334Val) c.3467A>T (p.Asp1156Val) c.656-744A>T (n.656-744A>T) c.3398A>T (p.Asp1133Val) c.3461A>T (p.Asp1154Val) c.3449A>T (p.Asp1150Val) | |
2 | g.144389626T>C | CA348699233 | ZEB2 | c.*3319A>G (n.*3319A>G) c.2693A>G (p.Asp898Gly) c.3470A>G (p.Asp1157Gly) c.3358A>G (p.Thr1120Ala) n.3439A>G c.3134A>G (p.Asp1045Gly) c.3545A>G (p.Asp1182Gly) c.*3187A>G (n.*3187A>G) n.3570A>G c.151+6786A>G (n.151+6786A>G) c.690A>G (n.690A>G) c.1001A>G (p.Asp334Gly) c.3467A>G (p.Asp1156Gly) c.656-744A>G (n.656-744A>G) c.3398A>G (p.Asp1133Gly) c.3461A>G (p.Asp1154Gly) c.3449A>G (p.Asp1150Gly) | |
2 | g.144389626T>G | CA348699234 | ZEB2 | c.*3319A>C (n.*3319A>C) c.2693A>C (p.Asp898Ala) c.3470A>C (p.Asp1157Ala) c.3358A>C (p.Thr1120Pro) n.3439A>C c.3134A>C (p.Asp1045Ala) c.3545A>C (p.Asp1182Ala) c.*3187A>C (n.*3187A>C) n.3570A>C c.151+6786A>C (n.151+6786A>C) c.690A>C (n.690A>C) c.1001A>C (p.Asp334Ala) c.3467A>C (p.Asp1156Ala) c.656-744A>C (n.656-744A>C) c.3398A>C (p.Asp1133Ala) c.3461A>C (p.Asp1154Ala) c.3449A>C (p.Asp1150Ala) | |
2 | g.144389627C>A | CA348699235 | ZEB2 | c.*3318G>T (n.*3318G>T) c.2692G>T (p.Asp898Tyr) c.3469G>T (p.Asp1157Tyr) c.3357G>T (p.Ala1119=) n.3438G>T c.3133G>T (p.Asp1045Tyr) c.3544G>T (p.Asp1182Tyr) c.*3186G>T (n.*3186G>T) n.3569G>T c.151+6785G>T (n.151+6785G>T) c.689G>T (n.689G>T) c.1000G>T (p.Asp334Tyr) c.3466G>T (p.Asp1156Tyr) c.656-745G>T (n.656-745G>T) c.3397G>T (p.Asp1133Tyr) c.3460G>T (p.Asp1154Tyr) c.3448G>T (p.Asp1150Tyr) | |
2 | g.144389627C= | CA1294881273 | ZEB2 | c.*3318G= (n.*3318G=) c.2692G= (p.Asp898=) c.3469G= (p.Asp1157=) c.3357G= (p.Ala1119=) n.3438G= c.3133G= (p.Asp1045=) c.3544G= (p.Asp1182=) c.*3186G= (n.*3186G=) n.3569G= c.151+6785G= (n.151+6785G=) c.689G= (n.689G=) c.1000G= (p.Asp334=) c.3466G= (p.Asp1156=) c.656-745G= (n.656-745G=) c.3397G= (p.Asp1133=) c.3460G= (p.Asp1154=) c.3448G= (p.Asp1150=) | |
2 | g.144389627C>G | CA348699236 | ZEB2 | c.*3318G>C (n.*3318G>C) c.2692G>C (p.Asp898His) c.3469G>C (p.Asp1157His) c.3357G>C (p.Ala1119=) n.3438G>C c.3133G>C (p.Asp1045His) c.3544G>C (p.Asp1182His) c.*3186G>C (n.*3186G>C) n.3569G>C c.151+6785G>C (n.151+6785G>C) c.689G>C (n.689G>C) c.1000G>C (p.Asp334His) c.3466G>C (p.Asp1156His) c.656-745G>C (n.656-745G>C) c.3397G>C (p.Asp1133His) c.3460G>C (p.Asp1154His) c.3448G>C (p.Asp1150His) | gnomAD v4 |
2 | g.144389627C>T | CA348699237 | ZEB2 | c.*3318G>A (n.*3318G>A) c.2692G>A (p.Asp898Asn) c.3469G>A (p.Asp1157Asn) c.3357G>A (p.Ala1119=) n.3438G>A c.3133G>A (p.Asp1045Asn) c.3544G>A (p.Asp1182Asn) c.*3186G>A (n.*3186G>A) n.3569G>A c.151+6785G>A (n.151+6785G>A) c.689G>A (n.689G>A) c.1000G>A (p.Asp334Asn) c.3466G>A (p.Asp1156Asn) c.656-745G>A (n.656-745G>A) c.3397G>A (p.Asp1133Asn) c.3460G>A (p.Asp1154Asn) c.3448G>A (p.Asp1150Asn) | ClinVar dbSNP gnomAD v4 |
2 | g.144389628G>A | CA429441105 | ZEB2 | c.*3317C>T (n.*3317C>T) c.2691C>T (p.Gly897=) c.3468C>T (p.Gly1156=) c.3356C>T (p.Ala1119Val) n.3437C>T c.3132C>T (p.Gly1044=) c.3543C>T (p.Gly1181=) c.*3185C>T (n.*3185C>T) n.3568C>T c.151+6784C>T (n.151+6784C>T) c.688C>T (n.688C>T) c.999C>T (p.Gly333=) c.3465C>T (p.Gly1155=) c.656-746C>T (n.656-746C>T) c.3396C>T (p.Gly1132=) c.3459C>T (p.Gly1153=) c.3447C>T (p.Gly1149=) | COSMIC |
2 | g.144389628G>C | CA429441106 | ZEB2 | c.*3317C>G (n.*3317C>G) c.2691C>G (p.Gly897=) c.3468C>G (p.Gly1156=) c.3356C>G (p.Ala1119Gly) n.3437C>G c.3132C>G (p.Gly1044=) c.3543C>G (p.Gly1181=) c.*3185C>G (n.*3185C>G) n.3568C>G c.151+6784C>G (n.151+6784C>G) c.688C>G (n.688C>G) c.999C>G (p.Gly333=) c.3465C>G (p.Gly1155=) c.656-746C>G (n.656-746C>G) c.3396C>G (p.Gly1132=) c.3459C>G (p.Gly1153=) c.3447C>G (p.Gly1149=) | |
2 | g.144389628G>T | CA429441107 | ZEB2 | c.*3317C>A (n.*3317C>A) c.2691C>A (p.Gly897=) c.3468C>A (p.Gly1156=) c.3356C>A (p.Ala1119Glu) n.3437C>A c.3132C>A (p.Gly1044=) c.3543C>A (p.Gly1181=) c.*3185C>A (n.*3185C>A) n.3568C>A c.151+6784C>A (n.151+6784C>A) c.688C>A (n.688C>A) c.999C>A (p.Gly333=) c.3465C>A (p.Gly1155=) c.656-746C>A (n.656-746C>A) c.3396C>A (p.Gly1132=) c.3459C>A (p.Gly1153=) c.3447C>A (p.Gly1149=) | |
2 | g.144389629C>A | CA348699238 | ZEB2 | c.*3316G>T (n.*3316G>T) c.2690G>T (p.Gly897Val) c.3467G>T (p.Gly1156Val) c.3355G>T (p.Ala1119Ser) n.3436G>T c.3131G>T (p.Gly1044Val) c.3542G>T (p.Gly1181Val) c.*3184G>T (n.*3184G>T) n.3567G>T c.151+6783G>T (n.151+6783G>T) c.687G>T (n.687G>T) c.998G>T (p.Gly333Val) c.3464G>T (p.Gly1155Val) c.656-747G>T (n.656-747G>T) c.3395G>T (p.Gly1132Val) c.3458G>T (p.Gly1153Val) c.3446G>T (p.Gly1149Val) | |
2 | g.144389629C= | CA1294881274 | ZEB2 | c.*3316G= (n.*3316G=) c.2690G= (p.Gly897=) c.3467G= (p.Gly1156=) c.3355G= (p.Ala1119=) n.3436G= c.3131G= (p.Gly1044=) c.3542G= (p.Gly1181=) c.*3184G= (n.*3184G=) n.3567G= c.151+6783G= (n.151+6783G=) c.687G= (n.687G=) c.998G= (p.Gly333=) c.3464G= (p.Gly1155=) c.656-747G= (n.656-747G=) c.3395G= (p.Gly1132=) c.3458G= (p.Gly1153=) c.3446G= (p.Gly1149=) | |
2 | g.144389629C>G | CA348699239 | ZEB2 | c.*3316G>C (n.*3316G>C) c.2690G>C (p.Gly897Ala) c.3467G>C (p.Gly1156Ala) c.3355G>C (p.Ala1119Pro) n.3436G>C c.3131G>C (p.Gly1044Ala) c.3542G>C (p.Gly1181Ala) c.*3184G>C (n.*3184G>C) n.3567G>C c.151+6783G>C (n.151+6783G>C) c.687G>C (n.687G>C) c.998G>C (p.Gly333Ala) c.3464G>C (p.Gly1155Ala) c.656-747G>C (n.656-747G>C) c.3395G>C (p.Gly1132Ala) c.3458G>C (p.Gly1153Ala) c.3446G>C (p.Gly1149Ala) | ClinVar dbSNP |
2 | g.144389629C>T | CA348699240 | ZEB2 | c.*3316G>A (n.*3316G>A) c.2690G>A (p.Gly897Asp) c.3467G>A (p.Gly1156Asp) c.3355G>A (p.Ala1119Thr) n.3436G>A c.3131G>A (p.Gly1044Asp) c.3542G>A (p.Gly1181Asp) c.*3184G>A (n.*3184G>A) n.3567G>A c.151+6783G>A (n.151+6783G>A) c.687G>A (n.687G>A) c.998G>A (p.Gly333Asp) c.3464G>A (p.Gly1155Asp) c.656-747G>A (n.656-747G>A) c.3395G>A (p.Gly1132Asp) c.3458G>A (p.Gly1153Asp) c.3446G>A (p.Gly1149Asp) | |
2 | g.144389629_144389630insT | CA2542021771 | ZEB2 | c.*3315_*3316insA (n.*3315_*3316insA) c.2689_2690insA (p.Gly897GlufsTer13) c.3466_3467insA (p.Gly1156GlufsTer13) c.3354_3355insA (p.Ala1119SerfsTer?) n.3435_3436insA c.3130_3131insA (p.Gly1044GlufsTer13) c.3541_3542insA (p.Gly1181GlufsTer13) c.*3183_*3184insA (n.*3183_*3184insA) n.3566_3567insA c.151+6782_151+6783insA (n.151+6782_151+6783insA) c.686_687insA (n.686_687insA) c.997_998insA (p.Gly333GlufsTer13) c.3463_3464insA (p.Gly1155GlufsTer13) c.656-748_656-747insA (n.656-748_656-747insA) c.3394_3395insA (p.Gly1132GlufsTer13) c.3457_3458insA (p.Gly1153GlufsTer13) c.3445_3446insA (p.Gly1149GlufsTer13) | |
2 | g.144389630C>A | CA1898111 | ZEB2 | c.*3315G>T (n.*3315G>T) c.2689G>T (p.Gly897Cys) c.3466G>T (p.Gly1156Cys) c.3354G>T (p.Met1118Ile) n.3435G>T c.3130G>T (p.Gly1044Cys) c.3541G>T (p.Gly1181Cys) c.*3183G>T (n.*3183G>T) n.3566G>T c.151+6782G>T (n.151+6782G>T) c.686G>T (n.686G>T) c.997G>T (p.Gly333Cys) c.3463G>T (p.Gly1155Cys) c.656-748G>T (n.656-748G>T) c.3394G>T (p.Gly1132Cys) c.3457G>T (p.Gly1153Cys) c.3445G>T (p.Gly1149Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
2 | g.144389630C= | CA1294881275 | ZEB2 | c.*3315G= (n.*3315G=) c.2689G= (p.Gly897=) c.3466G= (p.Gly1156=) c.3354G= (p.Met1118=) n.3435G= c.3130G= (p.Gly1044=) c.3541G= (p.Gly1181=) c.*3183G= (n.*3183G=) n.3566G= c.151+6782G= (n.151+6782G=) c.686G= (n.686G=) c.997G= (p.Gly333=) c.3463G= (p.Gly1155=) c.656-748G= (n.656-748G=) c.3394G= (p.Gly1132=) c.3457G= (p.Gly1153=) c.3445G= (p.Gly1149=) | |
2 | g.144389630C>G | CA348699241 | ZEB2 | c.*3315G>C (n.*3315G>C) c.2689G>C (p.Gly897Arg) c.3466G>C (p.Gly1156Arg) c.3354G>C (p.Met1118Ile) n.3435G>C c.3130G>C (p.Gly1044Arg) c.3541G>C (p.Gly1181Arg) c.*3183G>C (n.*3183G>C) n.3566G>C c.151+6782G>C (n.151+6782G>C) c.686G>C (n.686G>C) c.997G>C (p.Gly333Arg) c.3463G>C (p.Gly1155Arg) c.656-748G>C (n.656-748G>C) c.3394G>C (p.Gly1132Arg) c.3457G>C (p.Gly1153Arg) c.3445G>C (p.Gly1149Arg) | |
2 | g.144389630C>T | CA348699242 | ZEB2 | c.*3315G>A (n.*3315G>A) c.2689G>A (p.Gly897Ser) c.3466G>A (p.Gly1156Ser) c.3354G>A (p.Met1118Ile) n.3435G>A c.3130G>A (p.Gly1044Ser) c.3541G>A (p.Gly1181Ser) c.*3183G>A (n.*3183G>A) n.3566G>A c.151+6782G>A (n.151+6782G>A) c.686G>A (n.686G>A) c.997G>A (p.Gly333Ser) c.3463G>A (p.Gly1155Ser) c.656-748G>A (n.656-748G>A) c.3394G>A (p.Gly1132Ser) c.3457G>A (p.Gly1153Ser) c.3445G>A (p.Gly1149Ser) | |
2 | g.144389631A>C | CA348699243 | ZEB2 | c.*3314T>G (n.*3314T>G) c.2688T>G (p.Asp896Glu) c.3465T>G (p.Asp1155Glu) c.3353T>G (p.Met1118Arg) n.3434T>G c.3129T>G (p.Asp1043Glu) c.3540T>G (p.Asp1180Glu) c.*3182T>G (n.*3182T>G) n.3565T>G c.151+6781T>G (n.151+6781T>G) c.685T>G (n.685T>G) c.996T>G (p.Asp332Glu) c.3462T>G (p.Asp1154Glu) c.656-749T>G (n.656-749T>G) c.3393T>G (p.Asp1131Glu) c.3456T>G (p.Asp1152Glu) c.3444T>G (p.Asp1148Glu) | |
2 | g.144389631A>G | CA429441108 | ZEB2 | c.*3314T>C (n.*3314T>C) c.2688T>C (p.Asp896=) c.3465T>C (p.Asp1155=) c.3353T>C (p.Met1118Thr) n.3434T>C c.3129T>C (p.Asp1043=) c.3540T>C (p.Asp1180=) c.*3182T>C (n.*3182T>C) n.3565T>C c.151+6781T>C (n.151+6781T>C) c.685T>C (n.685T>C) c.996T>C (p.Asp332=) c.3462T>C (p.Asp1154=) c.656-749T>C (n.656-749T>C) c.3393T>C (p.Asp1131=) c.3456T>C (p.Asp1152=) c.3444T>C (p.Asp1148=) | |
2 | g.144389631A>T | CA348699244 | ZEB2 | c.*3314T>A (n.*3314T>A) c.2688T>A (p.Asp896Glu) c.3465T>A (p.Asp1155Glu) c.3353T>A (p.Met1118Lys) n.3434T>A c.3129T>A (p.Asp1043Glu) c.3540T>A (p.Asp1180Glu) c.*3182T>A (n.*3182T>A) n.3565T>A c.151+6781T>A (n.151+6781T>A) c.685T>A (n.685T>A) c.996T>A (p.Asp332Glu) c.3462T>A (p.Asp1154Glu) c.656-749T>A (n.656-749T>A) c.3393T>A (p.Asp1131Glu) c.3456T>A (p.Asp1152Glu) c.3444T>A (p.Asp1148Glu) | |
2 | g.144389632T>A | CA348699245 | ZEB2 | c.*3313A>T (n.*3313A>T) c.2687A>T (p.Asp896Val) c.3464A>T (p.Asp1155Val) c.3352A>T (p.Met1118Leu) n.3433A>T c.3128A>T (p.Asp1043Val) c.3539A>T (p.Asp1180Val) c.*3181A>T (n.*3181A>T) n.3564A>T c.151+6780A>T (n.151+6780A>T) c.684A>T (n.684A>T) c.995A>T (p.Asp332Val) c.3461A>T (p.Asp1154Val) c.656-750A>T (n.656-750A>T) c.3392A>T (p.Asp1131Val) c.3455A>T (p.Asp1152Val) c.3443A>T (p.Asp1148Val) | gnomAD v4 |
2 | g.144389632T>C | CA348699246 | ZEB2 | c.*3313A>G (n.*3313A>G) c.2687A>G (p.Asp896Gly) c.3464A>G (p.Asp1155Gly) c.3352A>G (p.Met1118Val) n.3433A>G c.3128A>G (p.Asp1043Gly) c.3539A>G (p.Asp1180Gly) c.*3181A>G (n.*3181A>G) n.3564A>G c.151+6780A>G (n.151+6780A>G) c.684A>G (n.684A>G) c.995A>G (p.Asp332Gly) c.3461A>G (p.Asp1154Gly) c.656-750A>G (n.656-750A>G) c.3392A>G (p.Asp1131Gly) c.3455A>G (p.Asp1152Gly) c.3443A>G (p.Asp1148Gly) | |
2 | g.144389632T>G | CA348699247 | ZEB2 | c.*3313A>C (n.*3313A>C) c.2687A>C (p.Asp896Ala) c.3464A>C (p.Asp1155Ala) c.3352A>C (p.Met1118Leu) n.3433A>C c.3128A>C (p.Asp1043Ala) c.3539A>C (p.Asp1180Ala) c.*3181A>C (n.*3181A>C) n.3564A>C c.151+6780A>C (n.151+6780A>C) c.684A>C (n.684A>C) c.995A>C (p.Asp332Ala) c.3461A>C (p.Asp1154Ala) c.656-750A>C (n.656-750A>C) c.3392A>C (p.Asp1131Ala) c.3455A>C (p.Asp1152Ala) c.3443A>C (p.Asp1148Ala) | gnomAD v4 |
2 | g.144389633C>A | CA1898112 | ZEB2 | c.*3312G>T (n.*3312G>T) c.2686G>T (p.Asp896Tyr) c.3463G>T (p.Asp1155Tyr) c.3351G>T (p.Arg1117Ser) n.3432G>T c.3127G>T (p.Asp1043Tyr) c.3538G>T (p.Asp1180Tyr) c.*3180G>T (n.*3180G>T) n.3563G>T c.151+6779G>T (n.151+6779G>T) c.683G>T (n.683G>T) c.994G>T (p.Asp332Tyr) c.3460G>T (p.Asp1154Tyr) c.656-751G>T (n.656-751G>T) c.3391G>T (p.Asp1131Tyr) c.3454G>T (p.Asp1152Tyr) c.3442G>T (p.Asp1148Tyr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.144389633C= | CA1294881276 | ZEB2 | c.*3312G= (n.*3312G=) c.2686G= (p.Asp896=) c.3463G= (p.Asp1155=) c.3351G= (p.Arg1117=) n.3432G= c.3127G= (p.Asp1043=) c.3538G= (p.Asp1180=) c.*3180G= (n.*3180G=) n.3563G= c.151+6779G= (n.151+6779G=) c.683G= (n.683G=) c.994G= (p.Asp332=) c.3460G= (p.Asp1154=) c.656-751G= (n.656-751G=) c.3391G= (p.Asp1131=) c.3454G= (p.Asp1152=) c.3442G= (p.Asp1148=) | |
2 | g.144389633C>G | CA348699248 | ZEB2 | c.*3312G>C (n.*3312G>C) c.2686G>C (p.Asp896His) c.3463G>C (p.Asp1155His) c.3351G>C (p.Arg1117Ser) n.3432G>C c.3127G>C (p.Asp1043His) c.3538G>C (p.Asp1180His) c.*3180G>C (n.*3180G>C) n.3563G>C c.151+6779G>C (n.151+6779G>C) c.683G>C (n.683G>C) c.994G>C (p.Asp332His) c.3460G>C (p.Asp1154His) c.656-751G>C (n.656-751G>C) c.3391G>C (p.Asp1131His) c.3454G>C (p.Asp1152His) c.3442G>C (p.Asp1148His) | gnomAD v4 |
2 | g.144389633C>T | CA348699249 | ZEB2 | c.*3312G>A (n.*3312G>A) c.2686G>A (p.Asp896Asn) c.3463G>A (p.Asp1155Asn) c.3351G>A (p.Arg1117=) n.3432G>A c.3127G>A (p.Asp1043Asn) c.3538G>A (p.Asp1180Asn) c.*3180G>A (n.*3180G>A) n.3563G>A c.151+6779G>A (n.151+6779G>A) c.683G>A (n.683G>A) c.994G>A (p.Asp332Asn) c.3460G>A (p.Asp1154Asn) c.656-751G>A (n.656-751G>A) c.3391G>A (p.Asp1131Asn) c.3454G>A (p.Asp1152Asn) c.3442G>A (p.Asp1148Asn) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.144389634C>A | CA348699250 | ZEB2 | c.*3311G>T (n.*3311G>T) c.2685G>T (p.Gln895His) c.3462G>T (p.Gln1154His) c.3350G>T (p.Arg1117Met) n.3431G>T c.3126G>T (p.Gln1042His) c.3537G>T (p.Gln1179His) c.*3179G>T (n.*3179G>T) n.3562G>T c.151+6778G>T (n.151+6778G>T) c.682G>T (n.682G>T) c.993G>T (p.Gln331His) c.3459G>T (p.Gln1153His) c.656-752G>T (n.656-752G>T) c.3390G>T (p.Gln1130His) c.3453G>T (p.Gln1151His) c.3441G>T (p.Gln1147His) | |
2 | g.144389634C>G | CA348699251 | ZEB2 | c.*3311G>C (n.*3311G>C) c.2685G>C (p.Gln895His) c.3462G>C (p.Gln1154His) c.3350G>C (p.Arg1117Thr) n.3431G>C c.3126G>C (p.Gln1042His) c.3537G>C (p.Gln1179His) c.*3179G>C (n.*3179G>C) n.3562G>C c.151+6778G>C (n.151+6778G>C) c.682G>C (n.682G>C) c.993G>C (p.Gln331His) c.3459G>C (p.Gln1153His) c.656-752G>C (n.656-752G>C) c.3390G>C (p.Gln1130His) c.3453G>C (p.Gln1151His) c.3441G>C (p.Gln1147His) | |
2 | g.144389634C>T | CA429441109 | ZEB2 | c.*3311G>A (n.*3311G>A) c.2685G>A (p.Gln895=) c.3462G>A (p.Gln1154=) c.3350G>A (p.Arg1117Lys) n.3431G>A c.3126G>A (p.Gln1042=) c.3537G>A (p.Gln1179=) c.*3179G>A (n.*3179G>A) n.3562G>A c.151+6778G>A (n.151+6778G>A) c.682G>A (n.682G>A) c.993G>A (p.Gln331=) c.3459G>A (p.Gln1153=) c.656-752G>A (n.656-752G>A) c.3390G>A (p.Gln1130=) c.3453G>A (p.Gln1151=) c.3441G>A (p.Gln1147=) | gnomAD v4 |
2 | g.144389634_144389636del | CA2517152789 | ZEB2 | c.*3309_*3311del (n.*3309_*3311del) c.2683_2685del (p.Gln895del) c.3460_3462del (p.Gln1154del) c.3348_3350del (p.Asp1116_Arg1117delinsGlu) n.3429_3431del c.3124_3126del (p.Gln1042del) c.3535_3537del (p.Gln1179del) c.*3177_*3179del (n.*3177_*3179del) n.3560_3562del c.151+6776_151+6778del (n.151+6776_151+6778del) c.680_682del (n.680_682del) c.991_993del (p.Gln331del) c.3457_3459del (p.Gln1153del) c.656-754_656-752del (n.656-754_656-752del) c.3388_3390del (p.Gln1130del) c.3451_3453del (p.Gln1151del) c.3439_3441del (p.Gln1147del) | |
2 | g.144389635T>A | CA348699252 | ZEB2 | c.*3310A>T (n.*3310A>T) c.2684A>T (p.Gln895Leu) c.3461A>T (p.Gln1154Leu) c.3349A>T (p.Arg1117Trp) n.3430A>T c.3125A>T (p.Gln1042Leu) c.3536A>T (p.Gln1179Leu) c.*3178A>T (n.*3178A>T) n.3561A>T c.151+6777A>T (n.151+6777A>T) c.681A>T (n.681A>T) c.992A>T (p.Gln331Leu) c.3458A>T (p.Gln1153Leu) c.656-753A>T (n.656-753A>T) c.3389A>T (p.Gln1130Leu) c.3452A>T (p.Gln1151Leu) c.3440A>T (p.Gln1147Leu) | |
2 | g.144389635T>C | CA348699253 | ZEB2 | c.*3310A>G (n.*3310A>G) c.2684A>G (p.Gln895Arg) c.3461A>G (p.Gln1154Arg) c.3349A>G (p.Arg1117Gly) n.3430A>G c.3125A>G (p.Gln1042Arg) c.3536A>G (p.Gln1179Arg) c.*3178A>G (n.*3178A>G) n.3561A>G c.151+6777A>G (n.151+6777A>G) c.681A>G (n.681A>G) c.992A>G (p.Gln331Arg) c.3458A>G (p.Gln1153Arg) c.656-753A>G (n.656-753A>G) c.3389A>G (p.Gln1130Arg) c.3452A>G (p.Gln1151Arg) c.3440A>G (p.Gln1147Arg) | dbSNP gnomAD v4 |
2 | g.144389635T>G | CA348699254 | ZEB2 | c.*3310A>C (n.*3310A>C) c.2684A>C (p.Gln895Pro) c.3461A>C (p.Gln1154Pro) c.3349A>C (p.Arg1117=) n.3430A>C c.3125A>C (p.Gln1042Pro) c.3536A>C (p.Gln1179Pro) c.*3178A>C (n.*3178A>C) n.3561A>C c.151+6777A>C (n.151+6777A>C) c.681A>C (n.681A>C) c.992A>C (p.Gln331Pro) c.3458A>C (p.Gln1153Pro) c.656-753A>C (n.656-753A>C) c.3389A>C (p.Gln1130Pro) c.3452A>C (p.Gln1151Pro) c.3440A>C (p.Gln1147Pro) | |
2 | g.144389635T= | CA1294881277 | ZEB2 | c.*3310A= (n.*3310A=) c.2684A= (p.Gln895=) c.3461A= (p.Gln1154=) c.3349A= (p.Arg1117=) n.3430A= c.3125A= (p.Gln1042=) c.3536A= (p.Gln1179=) c.*3178A= (n.*3178A=) n.3561A= c.151+6777A= (n.151+6777A=) c.681A= (n.681A=) c.992A= (p.Gln331=) c.3458A= (p.Gln1153=) c.656-753A= (n.656-753A=) c.3389A= (p.Gln1130=) c.3452A= (p.Gln1151=) c.3440A= (p.Gln1147=) | |
2 | g.144389636G>A | CA348699256 | ZEB2 | c.*3309C>T (n.*3309C>T) c.2683C>T (p.Gln895Ter) c.3460C>T (p.Gln1154Ter) c.3348C>T (p.Asp1116=) n.3429C>T c.3124C>T (p.Gln1042Ter) c.3535C>T (p.Gln1179Ter) c.*3177C>T (n.*3177C>T) n.3560C>T c.151+6776C>T (n.151+6776C>T) c.680C>T (n.680C>T) c.991C>T (p.Gln331Ter) c.3457C>T (p.Gln1153Ter) c.656-754C>T (n.656-754C>T) c.3388C>T (p.Gln1130Ter) c.3451C>T (p.Gln1151Ter) c.3439C>T (p.Gln1147Ter) | |
2 | g.144389636G>C | CA348699257 | ZEB2 | c.*3309C>G (n.*3309C>G) c.2683C>G (p.Gln895Glu) c.3460C>G (p.Gln1154Glu) c.3348C>G (p.Asp1116Glu) n.3429C>G c.3124C>G (p.Gln1042Glu) c.3535C>G (p.Gln1179Glu) c.*3177C>G (n.*3177C>G) n.3560C>G c.151+6776C>G (n.151+6776C>G) c.680C>G (n.680C>G) c.991C>G (p.Gln331Glu) c.3457C>G (p.Gln1153Glu) c.656-754C>G (n.656-754C>G) c.3388C>G (p.Gln1130Glu) c.3451C>G (p.Gln1151Glu) c.3439C>G (p.Gln1147Glu) | |
2 | g.144389636G>T | CA348699255 | ZEB2 | c.*3309C>A (n.*3309C>A) c.2683C>A (p.Gln895Lys) c.3460C>A (p.Gln1154Lys) c.3348C>A (p.Asp1116Glu) n.3429C>A c.3124C>A (p.Gln1042Lys) c.3535C>A (p.Gln1179Lys) c.*3177C>A (n.*3177C>A) n.3560C>A c.151+6776C>A (n.151+6776C>A) c.680C>A (n.680C>A) c.991C>A (p.Gln331Lys) c.3457C>A (p.Gln1153Lys) c.656-754C>A (n.656-754C>A) c.3388C>A (p.Gln1130Lys) c.3451C>A (p.Gln1151Lys) c.3439C>A (p.Gln1147Lys) | |
2 | g.144389637T>A | CA348699258 | ZEB2 | c.*3308A>T (n.*3308A>T) c.2682A>T (p.Arg894Ser) c.3459A>T (p.Arg1153Ser) c.3347A>T (p.Asp1116Val) n.3428A>T c.3123A>T (p.Arg1041Ser) c.3534A>T (p.Arg1178Ser) c.*3176A>T (n.*3176A>T) n.3559A>T c.151+6775A>T (n.151+6775A>T) c.679A>T (n.679A>T) c.990A>T (p.Arg330Ser) c.3456A>T (p.Arg1152Ser) c.656-755A>T (n.656-755A>T) c.3387A>T (p.Arg1129Ser) c.3450A>T (p.Arg1150Ser) c.3438A>T (p.Arg1146Ser) | |
2 | g.144389637T>C | CA429441122 | ZEB2 | c.*3308A>G (n.*3308A>G) c.2682A>G (p.Arg894=) c.3459A>G (p.Arg1153=) c.3347A>G (p.Asp1116Gly) n.3428A>G c.3123A>G (p.Arg1041=) c.3534A>G (p.Arg1178=) c.*3176A>G (n.*3176A>G) n.3559A>G c.151+6775A>G (n.151+6775A>G) c.679A>G (n.679A>G) c.990A>G (p.Arg330=) c.3456A>G (p.Arg1152=) c.656-755A>G (n.656-755A>G) c.3387A>G (p.Arg1129=) c.3450A>G (p.Arg1150=) c.3438A>G (p.Arg1146=) | ClinVar dbSNP |
2 | g.144389637T>G | CA348699259 | ZEB2 | c.*3308A>C (n.*3308A>C) c.2682A>C (p.Arg894Ser) c.3459A>C (p.Arg1153Ser) c.3347A>C (p.Asp1116Ala) n.3428A>C c.3123A>C (p.Arg1041Ser) c.3534A>C (p.Arg1178Ser) c.*3176A>C (n.*3176A>C) n.3559A>C c.151+6775A>C (n.151+6775A>C) c.679A>C (n.679A>C) c.990A>C (p.Arg330Ser) c.3456A>C (p.Arg1152Ser) c.656-755A>C (n.656-755A>C) c.3387A>C (p.Arg1129Ser) c.3450A>C (p.Arg1150Ser) c.3438A>C (p.Arg1146Ser) | |
2 | g.144389637T= | CA1294881278 | ZEB2 | c.*3308A= (n.*3308A=) c.2682A= (p.Arg894=) c.3459A= (p.Arg1153=) c.3347A= (p.Asp1116=) n.3428A= c.3123A= (p.Arg1041=) c.3534A= (p.Arg1178=) c.*3176A= (n.*3176A=) n.3559A= c.151+6775A= (n.151+6775A=) c.679A= (n.679A=) c.990A= (p.Arg330=) c.3456A= (p.Arg1152=) c.656-755A= (n.656-755A=) c.3387A= (p.Arg1129=) c.3450A= (p.Arg1150=) c.3438A= (p.Arg1146=) | |
2 | g.144389638C>A | CA348699260 | ZEB2 | c.*3307G>T (n.*3307G>T) c.2681G>T (p.Arg894Ile) c.3458G>T (p.Arg1153Ile) c.3346G>T (p.Asp1116Tyr) n.3427G>T c.3122G>T (p.Arg1041Ile) c.3533G>T (p.Arg1178Ile) c.*3175G>T (n.*3175G>T) n.3558G>T c.151+6774G>T (n.151+6774G>T) c.678G>T (n.678G>T) c.989G>T (p.Arg330Ile) c.3455G>T (p.Arg1152Ile) c.656-756G>T (n.656-756G>T) c.3386G>T (p.Arg1129Ile) c.3449G>T (p.Arg1150Ile) c.3437G>T (p.Arg1146Ile) | |
2 | g.144389638C>G | CA348699261 | ZEB2 | c.*3307G>C (n.*3307G>C) c.2681G>C (p.Arg894Thr) c.3458G>C (p.Arg1153Thr) c.3346G>C (p.Asp1116His) n.3427G>C c.3122G>C (p.Arg1041Thr) c.3533G>C (p.Arg1178Thr) c.*3175G>C (n.*3175G>C) n.3558G>C c.151+6774G>C (n.151+6774G>C) c.678G>C (n.678G>C) c.989G>C (p.Arg330Thr) c.3455G>C (p.Arg1152Thr) c.656-756G>C (n.656-756G>C) c.3386G>C (p.Arg1129Thr) c.3449G>C (p.Arg1150Thr) c.3437G>C (p.Arg1146Thr) | |
2 | g.144389638C>T | CA348699262 | ZEB2 | c.*3307G>A (n.*3307G>A) c.2681G>A (p.Arg894Lys) c.3458G>A (p.Arg1153Lys) c.3346G>A (p.Asp1116Asn) n.3427G>A c.3122G>A (p.Arg1041Lys) c.3533G>A (p.Arg1178Lys) c.*3175G>A (n.*3175G>A) n.3558G>A c.151+6774G>A (n.151+6774G>A) c.678G>A (n.678G>A) c.989G>A (p.Arg330Lys) c.3455G>A (p.Arg1152Lys) c.656-756G>A (n.656-756G>A) c.3386G>A (p.Arg1129Lys) c.3449G>A (p.Arg1150Lys) c.3437G>A (p.Arg1146Lys) | |
2 | g.144389639T>A | CA348699263 | ZEB2 | c.*3306A>T (n.*3306A>T) c.2680A>T (p.Arg894Ter) c.3457A>T (p.Arg1153Ter) c.3345A>T (p.Ala1115=) n.3426A>T c.3121A>T (p.Arg1041Ter) c.3532A>T (p.Arg1178Ter) c.*3174A>T (n.*3174A>T) n.3557A>T c.151+6773A>T (n.151+6773A>T) c.677A>T (n.677A>T) c.988A>T (p.Arg330Ter) c.3454A>T (p.Arg1152Ter) c.656-757A>T (n.656-757A>T) c.3385A>T (p.Arg1129Ter) c.3448A>T (p.Arg1150Ter) c.3436A>T (p.Arg1146Ter) | |
2 | g.144389639T>C | CA348699264 | ZEB2 | c.*3306A>G (n.*3306A>G) c.2680A>G (p.Arg894Gly) c.3457A>G (p.Arg1153Gly) c.3345A>G (p.Ala1115=) n.3426A>G c.3121A>G (p.Arg1041Gly) c.3532A>G (p.Arg1178Gly) c.*3174A>G (n.*3174A>G) n.3557A>G c.151+6773A>G (n.151+6773A>G) c.677A>G (n.677A>G) c.988A>G (p.Arg330Gly) c.3454A>G (p.Arg1152Gly) c.656-757A>G (n.656-757A>G) c.3385A>G (p.Arg1129Gly) c.3448A>G (p.Arg1150Gly) c.3436A>G (p.Arg1146Gly) | gnomAD v4 |
2 | g.144389639T>G | CA429441123 | ZEB2 | c.*3306A>C (n.*3306A>C) c.2680A>C (p.Arg894=) c.3457A>C (p.Arg1153=) c.3345A>C (p.Ala1115=) n.3426A>C c.3121A>C (p.Arg1041=) c.3532A>C (p.Arg1178=) c.*3174A>C (n.*3174A>C) n.3557A>C c.151+6773A>C (n.151+6773A>C) c.677A>C (n.677A>C) c.988A>C (p.Arg330=) c.3454A>C (p.Arg1152=) c.656-757A>C (n.656-757A>C) c.3385A>C (p.Arg1129=) c.3448A>C (p.Arg1150=) c.3436A>C (p.Arg1146=) | |
2 | g.144389640G>A | CA429441124 | ZEB2 | c.*3305C>T (n.*3305C>T) c.2679C>T (p.Gly893=) c.3456C>T (p.Gly1152=) c.3344C>T (p.Ala1115Val) n.3425C>T c.3120C>T (p.Gly1040=) c.3531C>T (p.Gly1177=) c.*3173C>T (n.*3173C>T) n.3556C>T c.151+6772C>T (n.151+6772C>T) c.676C>T (n.676C>T) c.987C>T (p.Gly329=) c.3453C>T (p.Gly1151=) c.656-758C>T (n.656-758C>T) c.3384C>T (p.Gly1128=) c.3447C>T (p.Gly1149=) c.3435C>T (p.Gly1145=) | |
2 | g.144389640G>C | CA429441125 | ZEB2 | c.*3305C>G (n.*3305C>G) c.2679C>G (p.Gly893=) c.3456C>G (p.Gly1152=) c.3344C>G (p.Ala1115Gly) n.3425C>G c.3120C>G (p.Gly1040=) c.3531C>G (p.Gly1177=) c.*3173C>G (n.*3173C>G) n.3556C>G c.151+6772C>G (n.151+6772C>G) c.676C>G (n.676C>G) c.987C>G (p.Gly329=) c.3453C>G (p.Gly1151=) c.656-758C>G (n.656-758C>G) c.3384C>G (p.Gly1128=) c.3447C>G (p.Gly1149=) c.3435C>G (p.Gly1145=) | |
2 | g.144389640G>T | CA429441126 | ZEB2 | c.*3305C>A (n.*3305C>A) c.2679C>A (p.Gly893=) c.3456C>A (p.Gly1152=) c.3344C>A (p.Ala1115Glu) n.3425C>A c.3120C>A (p.Gly1040=) c.3531C>A (p.Gly1177=) c.*3173C>A (n.*3173C>A) n.3556C>A c.151+6772C>A (n.151+6772C>A) c.676C>A (n.676C>A) c.987C>A (p.Gly329=) c.3453C>A (p.Gly1151=) c.656-758C>A (n.656-758C>A) c.3384C>A (p.Gly1128=) c.3447C>A (p.Gly1149=) c.3435C>A (p.Gly1145=) | gnomAD v4 |
2 | g.144389641C>A | CA348699265 | ZEB2 | c.*3304G>T (n.*3304G>T) c.2678G>T (p.Gly893Val) c.3455G>T (p.Gly1152Val) c.3343G>T (p.Ala1115Ser) n.3424G>T c.3119G>T (p.Gly1040Val) c.3530G>T (p.Gly1177Val) c.*3172G>T (n.*3172G>T) n.3555G>T c.151+6771G>T (n.151+6771G>T) c.675G>T (n.675G>T) c.986G>T (p.Gly329Val) c.3452G>T (p.Gly1151Val) c.656-759G>T (n.656-759G>T) c.3383G>T (p.Gly1128Val) c.3446G>T (p.Gly1149Val) c.3434G>T (p.Gly1145Val) | |
2 | g.144389641C= | CA1294881279 | ZEB2 | c.*3304G= (n.*3304G=) c.2678G= (p.Gly893=) c.3455G= (p.Gly1152=) c.3343G= (p.Ala1115=) n.3424G= c.3119G= (p.Gly1040=) c.3530G= (p.Gly1177=) c.*3172G= (n.*3172G=) n.3555G= c.151+6771G= (n.151+6771G=) c.675G= (n.675G=) c.986G= (p.Gly329=) c.3452G= (p.Gly1151=) c.656-759G= (n.656-759G=) c.3383G= (p.Gly1128=) c.3446G= (p.Gly1149=) c.3434G= (p.Gly1145=) | |
2 | g.144389641C>G | CA348699266 | ZEB2 | c.*3304G>C (n.*3304G>C) c.2678G>C (p.Gly893Ala) c.3455G>C (p.Gly1152Ala) c.3343G>C (p.Ala1115Pro) n.3424G>C c.3119G>C (p.Gly1040Ala) c.3530G>C (p.Gly1177Ala) c.*3172G>C (n.*3172G>C) n.3555G>C c.151+6771G>C (n.151+6771G>C) c.675G>C (n.675G>C) c.986G>C (p.Gly329Ala) c.3452G>C (p.Gly1151Ala) c.656-759G>C (n.656-759G>C) c.3383G>C (p.Gly1128Ala) c.3446G>C (p.Gly1149Ala) c.3434G>C (p.Gly1145Ala) | |
2 | g.144389641C>T | CA1898113 | ZEB2 | c.*3304G>A (n.*3304G>A) c.2678G>A (p.Gly893Asp) c.3455G>A (p.Gly1152Asp) c.3343G>A (p.Ala1115Thr) n.3424G>A c.3119G>A (p.Gly1040Asp) c.3530G>A (p.Gly1177Asp) c.*3172G>A (n.*3172G>A) n.3555G>A c.151+6771G>A (n.151+6771G>A) c.675G>A (n.675G>A) c.986G>A (p.Gly329Asp) c.3452G>A (p.Gly1151Asp) c.656-759G>A (n.656-759G>A) c.3383G>A (p.Gly1128Asp) c.3446G>A (p.Gly1149Asp) c.3434G>A (p.Gly1145Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.144389642C>A | CA348699267 | ZEB2 | c.*3303G>T (n.*3303G>T) c.2677G>T (p.Gly893Cys) c.3454G>T (p.Gly1152Cys) c.3342G>T (p.Trp1114Cys) n.3423G>T c.3118G>T (p.Gly1040Cys) c.3529G>T (p.Gly1177Cys) c.*3171G>T (n.*3171G>T) n.3554G>T c.151+6770G>T (n.151+6770G>T) c.674G>T (n.674G>T) c.985G>T (p.Gly329Cys) c.3451G>T (p.Gly1151Cys) c.656-760G>T (n.656-760G>T) c.3382G>T (p.Gly1128Cys) c.3445G>T (p.Gly1149Cys) c.3433G>T (p.Gly1145Cys) | |
2 | g.144389642C= | CA1294881280 | ZEB2 | c.*3303G= (n.*3303G=) c.2677G= (p.Gly893=) c.3454G= (p.Gly1152=) c.3342G= (p.Trp1114=) n.3423G= c.3118G= (p.Gly1040=) c.3529G= (p.Gly1177=) c.*3171G= (n.*3171G=) n.3554G= c.151+6770G= (n.151+6770G=) c.674G= (n.674G=) c.985G= (p.Gly329=) c.3451G= (p.Gly1151=) c.656-760G= (n.656-760G=) c.3382G= (p.Gly1128=) c.3445G= (p.Gly1149=) c.3433G= (p.Gly1145=) | |
2 | g.144389642C>G | CA348699268 | ZEB2 | c.*3303G>C (n.*3303G>C) c.2677G>C (p.Gly893Arg) c.3454G>C (p.Gly1152Arg) c.3342G>C (p.Trp1114Cys) n.3423G>C c.3118G>C (p.Gly1040Arg) c.3529G>C (p.Gly1177Arg) c.*3171G>C (n.*3171G>C) n.3554G>C c.151+6770G>C (n.151+6770G>C) c.674G>C (n.674G>C) c.985G>C (p.Gly329Arg) c.3451G>C (p.Gly1151Arg) c.656-760G>C (n.656-760G>C) c.3382G>C (p.Gly1128Arg) c.3445G>C (p.Gly1149Arg) c.3433G>C (p.Gly1145Arg) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.144389642C>T | CA348699269 | ZEB2 | c.*3303G>A (n.*3303G>A) c.2677G>A (p.Gly893Ser) c.3454G>A (p.Gly1152Ser) c.3342G>A (p.Trp1114Ter) n.3423G>A c.3118G>A (p.Gly1040Ser) c.3529G>A (p.Gly1177Ser) c.*3171G>A (n.*3171G>A) n.3554G>A c.151+6770G>A (n.151+6770G>A) c.674G>A (n.674G>A) c.985G>A (p.Gly329Ser) c.3451G>A (p.Gly1151Ser) c.656-760G>A (n.656-760G>A) c.3382G>A (p.Gly1128Ser) c.3445G>A (p.Gly1149Ser) c.3433G>A (p.Gly1145Ser) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.144389643C>A | CA429441127 | ZEB2 | c.*3302G>T (n.*3302G>T) c.2676G>T (p.Leu892=) c.3453G>T (p.Leu1151=) c.3341G>T (p.Trp1114Leu) n.3422G>T c.3117G>T (p.Leu1039=) c.3528G>T (p.Leu1176=) c.*3170G>T (n.*3170G>T) n.3553G>T c.151+6769G>T (n.151+6769G>T) c.673G>T (n.673G>T) c.984G>T (p.Leu328=) c.3450G>T (p.Leu1150=) c.656-761G>T (n.656-761G>T) c.3381G>T (p.Leu1127=) c.3444G>T (p.Leu1148=) c.3432G>T (p.Leu1144=) | |
2 | g.144389643C>G | CA429441128 | ZEB2 | c.*3302G>C (n.*3302G>C) c.2676G>C (p.Leu892=) c.3453G>C (p.Leu1151=) c.3341G>C (p.Trp1114Ser) n.3422G>C c.3117G>C (p.Leu1039=) c.3528G>C (p.Leu1176=) c.*3170G>C (n.*3170G>C) n.3553G>C c.151+6769G>C (n.151+6769G>C) c.673G>C (n.673G>C) c.984G>C (p.Leu328=) c.3450G>C (p.Leu1150=) c.656-761G>C (n.656-761G>C) c.3381G>C (p.Leu1127=) c.3444G>C (p.Leu1148=) c.3432G>C (p.Leu1144=) | |
2 | g.144389643C>T | CA429441129 | ZEB2 | c.*3302G>A (n.*3302G>A) c.2676G>A (p.Leu892=) c.3453G>A (p.Leu1151=) c.3341G>A (p.Trp1114Ter) n.3422G>A c.3117G>A (p.Leu1039=) c.3528G>A (p.Leu1176=) c.*3170G>A (n.*3170G>A) n.3553G>A c.151+6769G>A (n.151+6769G>A) c.673G>A (n.673G>A) c.984G>A (p.Leu328=) c.3450G>A (p.Leu1150=) c.656-761G>A (n.656-761G>A) c.3381G>A (p.Leu1127=) c.3444G>A (p.Leu1148=) c.3432G>A (p.Leu1144=) | ClinVar |
2 | g.144389644_144389645insACCCCCCAAACACACCCAACACA | CA2752520878 | ZEB2 | c.*3302_*3303insTGTTGGGTGTGTTTGGGGGGTTG (n.*3302_*3303insTGTTGGGTGTGTTTGGGGGGTTG) c.2676_2677insTGTTGGGTGTGTTTGGGGGGTTG (p.Gly893CysfsTer?) c.3453_3454insTGTTGGGTGTGTTTGGGGGGTTG (p.Gly1152CysfsTer?) c.3341_3342insTGTTGGGTGTGTTTGGGGGGTTG (p.Trp1114CysfsTer25) n.3422_3423insTGTTGGGTGTGTTTGGGGGGTTG c.3117_3118insTGTTGGGTGTGTTTGGGGGGTTG (p.Gly1040CysfsTer?) c.3528_3529insTGTTGGGTGTGTTTGGGGGGTTG (p.Gly1177CysfsTer?) c.*3170_*3171insTGTTGGGTGTGTTTGGGGGGTTG (n.*3170_*3171insTGTTGGGTGTGTTTGGGGGGTTG) n.3553_3554insTGTTGGGTGTGTTTGGGGGGTTG c.151+6769_151+6770insTGTTGGGTGTGTTTGGGGGGTTG (n.151+6769_151+6770insTGTTGGGTGTGTTTGGGGGGTTG) c.673_674insTGTTGGGTGTGTTTGGGGGGTTG (n.673_674insTGTTGGGTGTGTTTGGGGGGTTG) c.984_985insTGTTGGGTGTGTTTGGGGGGTTG (p.Gly329CysfsTer?) c.3450_3451insTGTTGGGTGTGTTTGGGGGGTTG (p.Gly1151CysfsTer?) c.656-761_656-760insTGTTGGGTGTGTTTGGGGGGTTG (n.656-761_656-760insTGTTGGGTGTGTTTGGGGGGTTG) c.3381_3382insTGTTGGGTGTGTTTGGGGGGTTG (p.Gly1128CysfsTer?) c.3444_3445insTGTTGGGTGTGTTTGGGGGGTTG (p.Gly1149CysfsTer?) c.3432_3433insTGTTGGGTGTGTTTGGGGGGTTG (p.Gly1145CysfsTer?) | |
2 | g.144389644A= | CA1294881281 | ZEB2 | c.*3301T= (n.*3301T=) c.2675T= (p.Leu892=) c.3452T= (p.Leu1151=) c.3340T= (p.Trp1114=) n.3421T= c.3116T= (p.Leu1039=) c.3527T= (p.Leu1176=) c.*3169T= (n.*3169T=) n.3552T= c.151+6768T= (n.151+6768T=) c.672T= (n.672T=) c.983T= (p.Leu328=) c.3449T= (p.Leu1150=) c.656-762T= (n.656-762T=) c.3380T= (p.Leu1127=) c.3443T= (p.Leu1148=) c.3431T= (p.Leu1144=) | |
2 | g.144389644A>C | CA348699272 | ZEB2 | c.*3301T>G (n.*3301T>G) c.2675T>G (p.Leu892Arg) c.3452T>G (p.Leu1151Arg) c.3340T>G (p.Trp1114Gly) n.3421T>G c.3116T>G (p.Leu1039Arg) c.3527T>G (p.Leu1176Arg) c.*3169T>G (n.*3169T>G) n.3552T>G c.151+6768T>G (n.151+6768T>G) c.672T>G (n.672T>G) c.983T>G (p.Leu328Arg) c.3449T>G (p.Leu1150Arg) c.656-762T>G (n.656-762T>G) c.3380T>G (p.Leu1127Arg) c.3443T>G (p.Leu1148Arg) c.3431T>G (p.Leu1144Arg) | dbSNP |
2 | g.144389644A>G | CA348699271 | ZEB2 | c.*3301T>C (n.*3301T>C) c.2675T>C (p.Leu892Pro) c.3452T>C (p.Leu1151Pro) c.3340T>C (p.Trp1114Arg) n.3421T>C c.3116T>C (p.Leu1039Pro) c.3527T>C (p.Leu1176Pro) c.*3169T>C (n.*3169T>C) n.3552T>C c.151+6768T>C (n.151+6768T>C) c.672T>C (n.672T>C) c.983T>C (p.Leu328Pro) c.3449T>C (p.Leu1150Pro) c.656-762T>C (n.656-762T>C) c.3380T>C (p.Leu1127Pro) c.3443T>C (p.Leu1148Pro) c.3431T>C (p.Leu1144Pro) | ClinVar dbSNP gnomAD v4 |
2 | g.144389644A>T | CA348699270 | ZEB2 | c.*3301T>A (n.*3301T>A) c.2675T>A (p.Leu892Gln) c.3452T>A (p.Leu1151Gln) c.3340T>A (p.Trp1114Arg) n.3421T>A c.3116T>A (p.Leu1039Gln) c.3527T>A (p.Leu1176Gln) c.*3169T>A (n.*3169T>A) n.3552T>A c.151+6768T>A (n.151+6768T>A) c.672T>A (n.672T>A) c.983T>A (p.Leu328Gln) c.3449T>A (p.Leu1150Gln) c.656-762T>A (n.656-762T>A) c.3380T>A (p.Leu1127Gln) c.3443T>A (p.Leu1148Gln) c.3431T>A (p.Leu1144Gln) | |
2 | g.144389645G>A | CA429441130 | ZEB2 | c.*3300C>T (n.*3300C>T) c.2674C>T (p.Leu892=) c.3451C>T (p.Leu1151=) c.3339C>T (p.Ser1113=) n.3420C>T c.3115C>T (p.Leu1039=) c.3526C>T (p.Leu1176=) c.*3168C>T (n.*3168C>T) n.3551C>T c.151+6767C>T (n.151+6767C>T) c.671C>T (n.671C>T) c.982C>T (p.Leu328=) c.3448C>T (p.Leu1150=) c.656-763C>T (n.656-763C>T) c.3379C>T (p.Leu1127=) c.3442C>T (p.Leu1148=) c.3430C>T (p.Leu1144=) | ClinVar dbSNP gnomAD v4 |
2 | g.144389645G>C | CA348699273 | ZEB2 | c.*3300C>G (n.*3300C>G) c.2674C>G (p.Leu892Val) c.3451C>G (p.Leu1151Val) c.3339C>G (p.Ser1113Arg) n.3420C>G c.3115C>G (p.Leu1039Val) c.3526C>G (p.Leu1176Val) c.*3168C>G (n.*3168C>G) n.3551C>G c.151+6767C>G (n.151+6767C>G) c.671C>G (n.671C>G) c.982C>G (p.Leu328Val) c.3448C>G (p.Leu1150Val) c.656-763C>G (n.656-763C>G) c.3379C>G (p.Leu1127Val) c.3442C>G (p.Leu1148Val) c.3430C>G (p.Leu1144Val) | ClinVar gnomAD v4 |
2 | g.144389645G= | CA1294881282 | ZEB2 | c.*3300C= (n.*3300C=) c.2674C= (p.Leu892=) c.3451C= (p.Leu1151=) c.3339C= (p.Ser1113=) n.3420C= c.3115C= (p.Leu1039=) c.3526C= (p.Leu1176=) c.*3168C= (n.*3168C=) n.3551C= c.151+6767C= (n.151+6767C=) c.671C= (n.671C=) c.982C= (p.Leu328=) c.3448C= (p.Leu1150=) c.656-763C= (n.656-763C=) c.3379C= (p.Leu1127=) c.3442C= (p.Leu1148=) c.3430C= (p.Leu1144=) | |
2 | g.144389645G>T | CA1898114 | ZEB2 | c.*3300C>A (n.*3300C>A) c.2674C>A (p.Leu892Met) c.3451C>A (p.Leu1151Met) c.3339C>A (p.Ser1113Arg) n.3420C>A c.3115C>A (p.Leu1039Met) c.3526C>A (p.Leu1176Met) c.*3168C>A (n.*3168C>A) n.3551C>A c.151+6767C>A (n.151+6767C>A) c.671C>A (n.671C>A) c.982C>A (p.Leu328Met) c.3448C>A (p.Leu1150Met) c.656-763C>A (n.656-763C>A) c.3379C>A (p.Leu1127Met) c.3442C>A (p.Leu1148Met) c.3430C>A (p.Leu1144Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.144389646C>A | CA348699274 | ZEB2 | c.*3299G>T (n.*3299G>T) c.2673G>T (p.Lys891Asn) c.3450G>T (p.Lys1150Asn) c.3338G>T (p.Ser1113Ile) n.3419G>T c.3114G>T (p.Lys1038Asn) c.3525G>T (p.Lys1175Asn) c.*3167G>T (n.*3167G>T) n.3550G>T c.151+6766G>T (n.151+6766G>T) c.670G>T (n.670G>T) c.981G>T (p.Lys327Asn) c.3447G>T (p.Lys1149Asn) c.656-764G>T (n.656-764G>T) c.3378G>T (p.Lys1126Asn) c.3441G>T (p.Lys1147Asn) c.3429G>T (p.Lys1143Asn) | |
2 | g.144389646C>G | CA348699275 | ZEB2 | c.*3299G>C (n.*3299G>C) c.2673G>C (p.Lys891Asn) c.3450G>C (p.Lys1150Asn) c.3338G>C (p.Ser1113Thr) n.3419G>C c.3114G>C (p.Lys1038Asn) c.3525G>C (p.Lys1175Asn) c.*3167G>C (n.*3167G>C) n.3550G>C c.151+6766G>C (n.151+6766G>C) c.670G>C (n.670G>C) c.981G>C (p.Lys327Asn) c.3447G>C (p.Lys1149Asn) c.656-764G>C (n.656-764G>C) c.3378G>C (p.Lys1126Asn) c.3441G>C (p.Lys1147Asn) c.3429G>C (p.Lys1143Asn) | |
2 | g.144389646C>T | CA429441131 | ZEB2 | c.*3299G>A (n.*3299G>A) c.2673G>A (p.Lys891=) c.3450G>A (p.Lys1150=) c.3338G>A (p.Ser1113Asn) n.3419G>A c.3114G>A (p.Lys1038=) c.3525G>A (p.Lys1175=) c.*3167G>A (n.*3167G>A) n.3550G>A c.151+6766G>A (n.151+6766G>A) c.670G>A (n.670G>A) c.981G>A (p.Lys327=) c.3447G>A (p.Lys1149=) c.656-764G>A (n.656-764G>A) c.3378G>A (p.Lys1126=) c.3441G>A (p.Lys1147=) c.3429G>A (p.Lys1143=) | |
2 | g.144389647T>A | CA348699276 | ZEB2 | c.*3298A>T (n.*3298A>T) c.2672A>T (p.Lys891Met) c.3449A>T (p.Lys1150Met) c.3337A>T (p.Ser1113Cys) n.3418A>T c.3113A>T (p.Lys1038Met) c.3524A>T (p.Lys1175Met) c.*3166A>T (n.*3166A>T) n.3549A>T c.151+6765A>T (n.151+6765A>T) c.669A>T (n.669A>T) c.980A>T (p.Lys327Met) c.3446A>T (p.Lys1149Met) c.656-765A>T (n.656-765A>T) c.3377A>T (p.Lys1126Met) c.3440A>T (p.Lys1147Met) c.3428A>T (p.Lys1143Met) | |
2 | g.144389647T>C | CA348699277 | ZEB2 | c.*3298A>G (n.*3298A>G) c.2672A>G (p.Lys891Arg) c.3449A>G (p.Lys1150Arg) c.3337A>G (p.Ser1113Gly) n.3418A>G c.3113A>G (p.Lys1038Arg) c.3524A>G (p.Lys1175Arg) c.*3166A>G (n.*3166A>G) n.3549A>G c.151+6765A>G (n.151+6765A>G) c.669A>G (n.669A>G) c.980A>G (p.Lys327Arg) c.3446A>G (p.Lys1149Arg) c.656-765A>G (n.656-765A>G) c.3377A>G (p.Lys1126Arg) c.3440A>G (p.Lys1147Arg) c.3428A>G (p.Lys1143Arg) | |
2 | g.144389647T>G | CA348699278 | ZEB2 | c.*3298A>C (n.*3298A>C) c.2672A>C (p.Lys891Thr) c.3449A>C (p.Lys1150Thr) c.3337A>C (p.Ser1113Arg) n.3418A>C c.3113A>C (p.Lys1038Thr) c.3524A>C (p.Lys1175Thr) c.*3166A>C (n.*3166A>C) n.3549A>C c.151+6765A>C (n.151+6765A>C) c.669A>C (n.669A>C) c.980A>C (p.Lys327Thr) c.3446A>C (p.Lys1149Thr) c.656-765A>C (n.656-765A>C) c.3377A>C (p.Lys1126Thr) c.3440A>C (p.Lys1147Thr) c.3428A>C (p.Lys1143Thr) | |
2 | g.144389648T>A | CA348699279 | ZEB2 | c.*3297A>T (n.*3297A>T) c.2671A>T (p.Lys891Ter) c.3448A>T (p.Lys1150Ter) c.3336A>T (p.Gly1112=) n.3417A>T c.3112A>T (p.Lys1038Ter) c.3523A>T (p.Lys1175Ter) c.*3165A>T (n.*3165A>T) n.3548A>T c.151+6764A>T (n.151+6764A>T) c.668A>T (n.668A>T) c.979A>T (p.Lys327Ter) c.3445A>T (p.Lys1149Ter) c.656-766A>T (n.656-766A>T) c.3376A>T (p.Lys1126Ter) c.3439A>T (p.Lys1147Ter) c.3427A>T (p.Lys1143Ter) | |
2 | g.144389648T>C | CA348699280 | ZEB2 | c.*3297A>G (n.*3297A>G) c.2671A>G (p.Lys891Glu) c.3448A>G (p.Lys1150Glu) c.3336A>G (p.Gly1112=) n.3417A>G c.3112A>G (p.Lys1038Glu) c.3523A>G (p.Lys1175Glu) c.*3165A>G (n.*3165A>G) n.3548A>G c.151+6764A>G (n.151+6764A>G) c.668A>G (n.668A>G) c.979A>G (p.Lys327Glu) c.3445A>G (p.Lys1149Glu) c.656-766A>G (n.656-766A>G) c.3376A>G (p.Lys1126Glu) c.3439A>G (p.Lys1147Glu) c.3427A>G (p.Lys1143Glu) | |
2 | g.144389648T>G | CA348699281 | ZEB2 | c.*3297A>C (n.*3297A>C) c.2671A>C (p.Lys891Gln) c.3448A>C (p.Lys1150Gln) c.3336A>C (p.Gly1112=) n.3417A>C c.3112A>C (p.Lys1038Gln) c.3523A>C (p.Lys1175Gln) c.*3165A>C (n.*3165A>C) n.3548A>C c.151+6764A>C (n.151+6764A>C) c.668A>C (n.668A>C) c.979A>C (p.Lys327Gln) c.3445A>C (p.Lys1149Gln) c.656-766A>C (n.656-766A>C) c.3376A>C (p.Lys1126Gln) c.3439A>C (p.Lys1147Gln) c.3427A>C (p.Lys1143Gln) | |
2 | g.144389649C>A | CA429441132 | ZEB2 | c.*3296G>T (n.*3296G>T) c.2670G>T (p.Gly890=) c.3447G>T (p.Gly1149=) c.3335G>T (p.Gly1112Val) n.3416G>T c.3111G>T (p.Gly1037=) c.3522G>T (p.Gly1174=) c.*3164G>T (n.*3164G>T) n.3547G>T c.151+6763G>T (n.151+6763G>T) c.667G>T (n.667G>T) c.978G>T (p.Gly326=) c.3444G>T (p.Gly1148=) c.656-767G>T (n.656-767G>T) c.3375G>T (p.Gly1125=) c.3438G>T (p.Gly1146=) c.3426G>T (p.Gly1142=) | |
2 | g.144389649C>G | CA429441133 | ZEB2 | c.*3296G>C (n.*3296G>C) c.2670G>C (p.Gly890=) c.3447G>C (p.Gly1149=) c.3335G>C (p.Gly1112Ala) n.3416G>C c.3111G>C (p.Gly1037=) c.3522G>C (p.Gly1174=) c.*3164G>C (n.*3164G>C) n.3547G>C c.151+6763G>C (n.151+6763G>C) c.667G>C (n.667G>C) c.978G>C (p.Gly326=) c.3444G>C (p.Gly1148=) c.656-767G>C (n.656-767G>C) c.3375G>C (p.Gly1125=) c.3438G>C (p.Gly1146=) c.3426G>C (p.Gly1142=) | |
2 | g.144389649C>T | CA429441134 | ZEB2 | c.*3296G>A (n.*3296G>A) c.2670G>A (p.Gly890=) c.3447G>A (p.Gly1149=) c.3335G>A (p.Gly1112Glu) n.3416G>A c.3111G>A (p.Gly1037=) c.3522G>A (p.Gly1174=) c.*3164G>A (n.*3164G>A) n.3547G>A c.151+6763G>A (n.151+6763G>A) c.667G>A (n.667G>A) c.978G>A (p.Gly326=) c.3444G>A (p.Gly1148=) c.656-767G>A (n.656-767G>A) c.3375G>A (p.Gly1125=) c.3438G>A (p.Gly1146=) c.3426G>A (p.Gly1142=) | gnomAD v3 gnomAD v4 |
2 | g.144389650C>A | CA348699282 | ZEB2 | c.*3295G>T (n.*3295G>T) c.2669G>T (p.Gly890Val) c.3446G>T (p.Gly1149Val) c.3334G>T (p.Gly1112Ter) n.3415G>T c.3110G>T (p.Gly1037Val) c.3521G>T (p.Gly1174Val) c.*3163G>T (n.*3163G>T) n.3546G>T c.151+6762G>T (n.151+6762G>T) c.666G>T (n.666G>T) c.977G>T (p.Gly326Val) c.3443G>T (p.Gly1148Val) c.656-768G>T (n.656-768G>T) c.3374G>T (p.Gly1125Val) c.3437G>T (p.Gly1146Val) c.3425G>T (p.Gly1142Val) | |
2 | g.144389650C>G | CA348699283 | ZEB2 | c.*3295G>C (n.*3295G>C) c.2669G>C (p.Gly890Ala) c.3446G>C (p.Gly1149Ala) c.3334G>C (p.Gly1112Arg) n.3415G>C c.3110G>C (p.Gly1037Ala) c.3521G>C (p.Gly1174Ala) c.*3163G>C (n.*3163G>C) n.3546G>C c.151+6762G>C (n.151+6762G>C) c.666G>C (n.666G>C) c.977G>C (p.Gly326Ala) c.3443G>C (p.Gly1148Ala) c.656-768G>C (n.656-768G>C) c.3374G>C (p.Gly1125Ala) c.3437G>C (p.Gly1146Ala) c.3425G>C (p.Gly1142Ala) | |
2 | g.144389650C>T | CA348699284 | ZEB2 | c.*3295G>A (n.*3295G>A) c.2669G>A (p.Gly890Glu) c.3446G>A (p.Gly1149Glu) c.3334G>A (p.Gly1112Arg) n.3415G>A c.3110G>A (p.Gly1037Glu) c.3521G>A (p.Gly1174Glu) c.*3163G>A (n.*3163G>A) n.3546G>A c.151+6762G>A (n.151+6762G>A) c.666G>A (n.666G>A) c.977G>A (p.Gly326Glu) c.3443G>A (p.Gly1148Glu) c.656-768G>A (n.656-768G>A) c.3374G>A (p.Gly1125Glu) c.3437G>A (p.Gly1146Glu) c.3425G>A (p.Gly1142Glu) | |
2 | g.144389651C>A | CA348699286 | ZEB2 | c.*3294G>T (n.*3294G>T) c.2668G>T (p.Gly890Trp) c.3445G>T (p.Gly1149Trp) c.3333G>T (p.Thr1111=) n.3414G>T c.3109G>T (p.Gly1037Trp) c.3520G>T (p.Gly1174Trp) c.*3162G>T (n.*3162G>T) n.3545G>T c.151+6761G>T (n.151+6761G>T) c.665G>T (n.665G>T) c.976G>T (p.Gly326Trp) c.3442G>T (p.Gly1148Trp) c.656-769G>T (n.656-769G>T) c.3373G>T (p.Gly1125Trp) c.3436G>T (p.Gly1146Trp) c.3424G>T (p.Gly1142Trp) | |
2 | g.144389651C= | CA1294881283 | ZEB2 | c.*3294G= (n.*3294G=) c.2668G= (p.Gly890=) c.3445G= (p.Gly1149=) c.3333G= (p.Thr1111=) n.3414G= c.3109G= (p.Gly1037=) c.3520G= (p.Gly1174=) c.*3162G= (n.*3162G=) n.3545G= c.151+6761G= (n.151+6761G=) c.665G= (n.665G=) c.976G= (p.Gly326=) c.3442G= (p.Gly1148=) c.656-769G= (n.656-769G=) c.3373G= (p.Gly1125=) c.3436G= (p.Gly1146=) c.3424G= (p.Gly1142=) | |
2 | g.144389651C>G | CA348699285 | ZEB2 | c.*3294G>C (n.*3294G>C) c.2668G>C (p.Gly890Arg) c.3445G>C (p.Gly1149Arg) c.3333G>C (p.Thr1111=) n.3414G>C c.3109G>C (p.Gly1037Arg) c.3520G>C (p.Gly1174Arg) c.*3162G>C (n.*3162G>C) n.3545G>C c.151+6761G>C (n.151+6761G>C) c.665G>C (n.665G>C) c.976G>C (p.Gly326Arg) c.3442G>C (p.Gly1148Arg) c.656-769G>C (n.656-769G>C) c.3373G>C (p.Gly1125Arg) c.3436G>C (p.Gly1146Arg) c.3424G>C (p.Gly1142Arg) | |
2 | g.144389651C>T | CA1898115 | ZEB2 | c.*3294G>A (n.*3294G>A) c.2668G>A (p.Gly890Arg) c.3445G>A (p.Gly1149Arg) c.3333G>A (p.Thr1111=) n.3414G>A c.3109G>A (p.Gly1037Arg) c.3520G>A (p.Gly1174Arg) c.*3162G>A (n.*3162G>A) n.3545G>A c.151+6761G>A (n.151+6761G>A) c.665G>A (n.665G>A) c.976G>A (p.Gly326Arg) c.3442G>A (p.Gly1148Arg) c.656-769G>A (n.656-769G>A) c.3373G>A (p.Gly1125Arg) c.3436G>A (p.Gly1146Arg) c.3424G>A (p.Gly1142Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.144389652G>A | CA272829 | ZEB2 | c.*3293C>T (n.*3293C>T) c.2667C>T (p.Tyr889=) c.3444C>T (p.Tyr1148=) c.3332C>T (p.Thr1111Met) n.3413C>T c.3108C>T (p.Tyr1036=) c.3519C>T (p.Tyr1173=) c.*3161C>T (n.*3161C>T) n.3544C>T c.151+6760C>T (n.151+6760C>T) c.664C>T (n.664C>T) c.975C>T (p.Tyr325=) c.3441C>T (p.Tyr1147=) c.656-770C>T (n.656-770C>T) c.3372C>T (p.Tyr1124=) c.3435C>T (p.Tyr1145=) c.3423C>T (p.Tyr1141=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.144389652G>C | CA348699288 | ZEB2 | c.*3293C>G (n.*3293C>G) c.2667C>G (p.Tyr889Ter) c.3444C>G (p.Tyr1148Ter) c.3332C>G (p.Thr1111Arg) n.3413C>G c.3108C>G (p.Tyr1036Ter) c.3519C>G (p.Tyr1173Ter) c.*3161C>G (n.*3161C>G) n.3544C>G c.151+6760C>G (n.151+6760C>G) c.664C>G (n.664C>G) c.975C>G (p.Tyr325Ter) c.3441C>G (p.Tyr1147Ter) c.656-770C>G (n.656-770C>G) c.3372C>G (p.Tyr1124Ter) c.3435C>G (p.Tyr1145Ter) c.3423C>G (p.Tyr1141Ter) | |
2 | g.144389652G= | CA1294881284 | ZEB2 | c.*3293C= (n.*3293C=) c.2667C= (p.Tyr889=) c.3444C= (p.Tyr1148=) c.3332C= (p.Thr1111=) n.3413C= c.3108C= (p.Tyr1036=) c.3519C= (p.Tyr1173=) c.*3161C= (n.*3161C=) n.3544C= c.151+6760C= (n.151+6760C=) c.664C= (n.664C=) c.975C= (p.Tyr325=) c.3441C= (p.Tyr1147=) c.656-770C= (n.656-770C=) c.3372C= (p.Tyr1124=) c.3435C= (p.Tyr1145=) c.3423C= (p.Tyr1141=) | |
2 | g.144389652G>T | CA348699287 | ZEB2 | c.*3293C>A (n.*3293C>A) c.2667C>A (p.Tyr889Ter) c.3444C>A (p.Tyr1148Ter) c.3332C>A (p.Thr1111Lys) n.3413C>A c.3108C>A (p.Tyr1036Ter) c.3519C>A (p.Tyr1173Ter) c.*3161C>A (n.*3161C>A) n.3544C>A c.151+6760C>A (n.151+6760C>A) c.664C>A (n.664C>A) c.975C>A (p.Tyr325Ter) c.3441C>A (p.Tyr1147Ter) c.656-770C>A (n.656-770C>A) c.3372C>A (p.Tyr1124Ter) c.3435C>A (p.Tyr1145Ter) c.3423C>A (p.Tyr1141Ter) | |
2 | g.144389653T>A | CA348699289 | ZEB2 | c.*3292A>T (n.*3292A>T) c.2666A>T (p.Tyr889Phe) c.3443A>T (p.Tyr1148Phe) c.3331A>T (p.Thr1111Ser) n.3412A>T c.3107A>T (p.Tyr1036Phe) c.3518A>T (p.Tyr1173Phe) c.*3160A>T (n.*3160A>T) n.3543A>T c.151+6759A>T (n.151+6759A>T) c.663A>T (n.663A>T) c.974A>T (p.Tyr325Phe) c.3440A>T (p.Tyr1147Phe) c.656-771A>T (n.656-771A>T) c.3371A>T (p.Tyr1124Phe) c.3434A>T (p.Tyr1145Phe) c.3422A>T (p.Tyr1141Phe) | |
2 | g.144389653T>C | CA348699291 | ZEB2 | c.*3292A>G (n.*3292A>G) c.2666A>G (p.Tyr889Cys) c.3443A>G (p.Tyr1148Cys) c.3331A>G (p.Thr1111Ala) n.3412A>G c.3107A>G (p.Tyr1036Cys) c.3518A>G (p.Tyr1173Cys) c.*3160A>G (n.*3160A>G) n.3543A>G c.151+6759A>G (n.151+6759A>G) c.663A>G (n.663A>G) c.974A>G (p.Tyr325Cys) c.3440A>G (p.Tyr1147Cys) c.656-771A>G (n.656-771A>G) c.3371A>G (p.Tyr1124Cys) c.3434A>G (p.Tyr1145Cys) c.3422A>G (p.Tyr1141Cys) | gnomAD v4 |
2 | g.144389653T>G | CA348699290 | ZEB2 | c.*3292A>C (n.*3292A>C) c.2666A>C (p.Tyr889Ser) c.3443A>C (p.Tyr1148Ser) c.3331A>C (p.Thr1111Pro) n.3412A>C c.3107A>C (p.Tyr1036Ser) c.3518A>C (p.Tyr1173Ser) c.*3160A>C (n.*3160A>C) n.3543A>C c.151+6759A>C (n.151+6759A>C) c.663A>C (n.663A>C) c.974A>C (p.Tyr325Ser) c.3440A>C (p.Tyr1147Ser) c.656-771A>C (n.656-771A>C) c.3371A>C (p.Tyr1124Ser) c.3434A>C (p.Tyr1145Ser) c.3422A>C (p.Tyr1141Ser) | |
2 | g.144389654A= | CA1294881285 | ZEB2 | c.*3291T= (n.*3291T=) c.2665T= (p.Tyr889=) c.3442T= (p.Tyr1148=) c.3330T= (p.Ala1110=) n.3411T= c.3106T= (p.Tyr1036=) c.3517T= (p.Tyr1173=) c.*3159T= (n.*3159T=) n.3542T= c.151+6758T= (n.151+6758T=) c.662T= (n.662T=) c.973T= (p.Tyr325=) c.3439T= (p.Tyr1147=) c.656-772T= (n.656-772T=) c.3370T= (p.Tyr1124=) c.3433T= (p.Tyr1145=) c.3421T= (p.Tyr1141=) | |
2 | g.144389654A>C | CA348699292 | ZEB2 | c.*3291T>G (n.*3291T>G) c.2665T>G (p.Tyr889Asp) c.3442T>G (p.Tyr1148Asp) c.3330T>G (p.Ala1110=) n.3411T>G c.3106T>G (p.Tyr1036Asp) c.3517T>G (p.Tyr1173Asp) c.*3159T>G (n.*3159T>G) n.3542T>G c.151+6758T>G (n.151+6758T>G) c.662T>G (n.662T>G) c.973T>G (p.Tyr325Asp) c.3439T>G (p.Tyr1147Asp) c.656-772T>G (n.656-772T>G) c.3370T>G (p.Tyr1124Asp) c.3433T>G (p.Tyr1145Asp) c.3421T>G (p.Tyr1141Asp) | |
2 | g.144389654A>G | CA1898116 | ZEB2 | c.*3291T>C (n.*3291T>C) c.2665T>C (p.Tyr889His) c.3442T>C (p.Tyr1148His) c.3330T>C (p.Ala1110=) n.3411T>C c.3106T>C (p.Tyr1036His) c.3517T>C (p.Tyr1173His) c.*3159T>C (n.*3159T>C) n.3542T>C c.151+6758T>C (n.151+6758T>C) c.662T>C (n.662T>C) c.973T>C (p.Tyr325His) c.3439T>C (p.Tyr1147His) c.656-772T>C (n.656-772T>C) c.3370T>C (p.Tyr1124His) c.3433T>C (p.Tyr1145His) c.3421T>C (p.Tyr1141His) | dbSNP ExAC gnomAD v2 |
2 | g.144389654A>T | CA348699293 | ZEB2 | c.*3291T>A (n.*3291T>A) c.2665T>A (p.Tyr889Asn) c.3442T>A (p.Tyr1148Asn) c.3330T>A (p.Ala1110=) n.3411T>A c.3106T>A (p.Tyr1036Asn) c.3517T>A (p.Tyr1173Asn) c.*3159T>A (n.*3159T>A) n.3542T>A c.151+6758T>A (n.151+6758T>A) c.662T>A (n.662T>A) c.973T>A (p.Tyr325Asn) c.3439T>A (p.Tyr1147Asn) c.656-772T>A (n.656-772T>A) c.3370T>A (p.Tyr1124Asn) c.3433T>A (p.Tyr1145Asn) c.3421T>A (p.Tyr1141Asn) | |
2 | g.144389655G>A | CA429441136 | ZEB2 | c.*3290C>T (n.*3290C>T) c.2664C>T (p.Gly888=) c.3441C>T (p.Gly1147=) c.3329C>T (p.Ala1110Val) n.3410C>T c.3105C>T (p.Gly1035=) c.3516C>T (p.Gly1172=) c.*3158C>T (n.*3158C>T) n.3541C>T c.151+6757C>T (n.151+6757C>T) c.661C>T (n.661C>T) c.972C>T (p.Gly324=) c.3438C>T (p.Gly1146=) c.656-773C>T (n.656-773C>T) c.3369C>T (p.Gly1123=) c.3432C>T (p.Gly1144=) c.3420C>T (p.Gly1140=) | |
2 | g.144389655G>C | CA429441137 | ZEB2 | c.*3290C>G (n.*3290C>G) c.2664C>G (p.Gly888=) c.3441C>G (p.Gly1147=) c.3329C>G (p.Ala1110Gly) n.3410C>G c.3105C>G (p.Gly1035=) c.3516C>G (p.Gly1172=) c.*3158C>G (n.*3158C>G) n.3541C>G c.151+6757C>G (n.151+6757C>G) c.661C>G (n.661C>G) c.972C>G (p.Gly324=) c.3438C>G (p.Gly1146=) c.656-773C>G (n.656-773C>G) c.3369C>G (p.Gly1123=) c.3432C>G (p.Gly1144=) c.3420C>G (p.Gly1140=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.144389655G= | CA1294881286 | ZEB2 | c.*3290C= (n.*3290C=) c.2664C= (p.Gly888=) c.3441C= (p.Gly1147=) c.3329C= (p.Ala1110=) n.3410C= c.3105C= (p.Gly1035=) c.3516C= (p.Gly1172=) c.*3158C= (n.*3158C=) n.3541C= c.151+6757C= (n.151+6757C=) c.661C= (n.661C=) c.972C= (p.Gly324=) c.3438C= (p.Gly1146=) c.656-773C= (n.656-773C=) c.3369C= (p.Gly1123=) c.3432C= (p.Gly1144=) c.3420C= (p.Gly1140=) | |
2 | g.144389655G>T | CA429441135 | ZEB2 | c.*3290C>A (n.*3290C>A) c.2664C>A (p.Gly888=) c.3441C>A (p.Gly1147=) c.3329C>A (p.Ala1110Asp) n.3410C>A c.3105C>A (p.Gly1035=) c.3516C>A (p.Gly1172=) c.*3158C>A (n.*3158C>A) n.3541C>A c.151+6757C>A (n.151+6757C>A) c.661C>A (n.661C>A) c.972C>A (p.Gly324=) c.3438C>A (p.Gly1146=) c.656-773C>A (n.656-773C>A) c.3369C>A (p.Gly1123=) c.3432C>A (p.Gly1144=) c.3420C>A (p.Gly1140=) | |
2 | g.144389656C>A | CA1898117 | ZEB2 | c.*3289G>T (n.*3289G>T) c.2663G>T (p.Gly888Val) c.3440G>T (p.Gly1147Val) c.3328G>T (p.Ala1110Ser) n.3409G>T c.3104G>T (p.Gly1035Val) c.3515G>T (p.Gly1172Val) c.*3157G>T (n.*3157G>T) n.3540G>T c.151+6756G>T (n.151+6756G>T) c.660G>T (n.660G>T) c.971G>T (p.Gly324Val) c.3437G>T (p.Gly1146Val) c.656-774G>T (n.656-774G>T) c.3368G>T (p.Gly1123Val) c.3431G>T (p.Gly1144Val) c.3419G>T (p.Gly1140Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.144389656C= | CA1294881287 | ZEB2 | c.*3289G= (n.*3289G=) c.2663G= (p.Gly888=) c.3440G= (p.Gly1147=) c.3328G= (p.Ala1110=) n.3409G= c.3104G= (p.Gly1035=) c.3515G= (p.Gly1172=) c.*3157G= (n.*3157G=) n.3540G= c.151+6756G= (n.151+6756G=) c.660G= (n.660G=) c.971G= (p.Gly324=) c.3437G= (p.Gly1146=) c.656-774G= (n.656-774G=) c.3368G= (p.Gly1123=) c.3431G= (p.Gly1144=) c.3419G= (p.Gly1140=) | |
2 | g.144389656C>G | CA348699295 | ZEB2 | c.*3289G>C (n.*3289G>C) c.2663G>C (p.Gly888Ala) c.3440G>C (p.Gly1147Ala) c.3328G>C (p.Ala1110Pro) n.3409G>C c.3104G>C (p.Gly1035Ala) c.3515G>C (p.Gly1172Ala) c.*3157G>C (n.*3157G>C) n.3540G>C c.151+6756G>C (n.151+6756G>C) c.660G>C (n.660G>C) c.971G>C (p.Gly324Ala) c.3437G>C (p.Gly1146Ala) c.656-774G>C (n.656-774G>C) c.3368G>C (p.Gly1123Ala) c.3431G>C (p.Gly1144Ala) c.3419G>C (p.Gly1140Ala) | |
2 | g.144389656C>T | CA348699294 | ZEB2 | c.*3289G>A (n.*3289G>A) c.2663G>A (p.Gly888Asp) c.3440G>A (p.Gly1147Asp) c.3328G>A (p.Ala1110Thr) n.3409G>A c.3104G>A (p.Gly1035Asp) c.3515G>A (p.Gly1172Asp) c.*3157G>A (n.*3157G>A) n.3540G>A c.151+6756G>A (n.151+6756G>A) c.660G>A (n.660G>A) c.971G>A (p.Gly324Asp) c.3437G>A (p.Gly1146Asp) c.656-774G>A (n.656-774G>A) c.3368G>A (p.Gly1123Asp) c.3431G>A (p.Gly1144Asp) c.3419G>A (p.Gly1140Asp) | |
2 | g.144389657C>A | CA348699296 | ZEB2 | c.*3288G>T (n.*3288G>T) c.2662G>T (p.Gly888Cys) c.3439G>T (p.Gly1147Cys) c.3327G>T (p.Met1109Ile) n.3408G>T c.3103G>T (p.Gly1035Cys) c.3514G>T (p.Gly1172Cys) c.*3156G>T (n.*3156G>T) n.3539G>T c.151+6755G>T (n.151+6755G>T) c.659G>T (n.659G>T) c.970G>T (p.Gly324Cys) c.3436G>T (p.Gly1146Cys) c.656-775G>T (n.656-775G>T) c.3367G>T (p.Gly1123Cys) c.3430G>T (p.Gly1144Cys) c.3418G>T (p.Gly1140Cys) | |
2 | g.144389657C>G | CA348699298 | ZEB2 | c.*3288G>C (n.*3288G>C) c.2662G>C (p.Gly888Arg) c.3439G>C (p.Gly1147Arg) c.3327G>C (p.Met1109Ile) n.3408G>C c.3103G>C (p.Gly1035Arg) c.3514G>C (p.Gly1172Arg) c.*3156G>C (n.*3156G>C) n.3539G>C c.151+6755G>C (n.151+6755G>C) c.659G>C (n.659G>C) c.970G>C (p.Gly324Arg) c.3436G>C (p.Gly1146Arg) c.656-775G>C (n.656-775G>C) c.3367G>C (p.Gly1123Arg) c.3430G>C (p.Gly1144Arg) c.3418G>C (p.Gly1140Arg) | |
2 | g.144389657C>T | CA348699297 | ZEB2 | c.*3288G>A (n.*3288G>A) c.2662G>A (p.Gly888Ser) c.3439G>A (p.Gly1147Ser) c.3327G>A (p.Met1109Ile) n.3408G>A c.3103G>A (p.Gly1035Ser) c.3514G>A (p.Gly1172Ser) c.*3156G>A (n.*3156G>A) n.3539G>A c.151+6755G>A (n.151+6755G>A) c.659G>A (n.659G>A) c.970G>A (p.Gly324Ser) c.3436G>A (p.Gly1146Ser) c.656-775G>A (n.656-775G>A) c.3367G>A (p.Gly1123Ser) c.3430G>A (p.Gly1144Ser) c.3418G>A (p.Gly1140Ser) | |
2 | g.144389658_144389660dup | CA2739271217 | ZEB2 | c.*3286_*3288dup (n.*3286_*3288dup) c.2660_2662dup (p.Asp887_Gly888insAsp) c.3437_3439dup (p.Asp1146_Gly1147insAsp) c.3325_3327dup (p.Met1109_Ala1110insMet) n.3406_3408dup c.3101_3103dup (p.Asp1034_Gly1035insAsp) c.3512_3514dup (p.Asp1171_Gly1172insAsp) c.*3154_*3156dup (n.*3154_*3156dup) n.3537_3539dup c.151+6753_151+6755dup (n.151+6753_151+6755dup) c.657_659dup (n.657_659dup) c.968_970dup (p.Asp323_Gly324insAsp) c.3434_3436dup (p.Asp1145_Gly1146insAsp) c.656-777_656-775dup (n.656-777_656-775dup) c.3365_3367dup (p.Asp1122_Gly1123insAsp) c.3428_3430dup (p.Asp1143_Gly1144insAsp) c.3416_3418dup (p.Asp1139_Gly1140insAsp) | ClinVar |
2 | g.144389658A>C | CA348699299 | ZEB2 | c.*3287T>G (n.*3287T>G) c.2661T>G (p.Asp887Glu) c.3438T>G (p.Asp1146Glu) c.3326T>G (p.Met1109Arg) n.3407T>G c.3102T>G (p.Asp1034Glu) c.3513T>G (p.Asp1171Glu) c.*3155T>G (n.*3155T>G) n.3538T>G c.151+6754T>G (n.151+6754T>G) c.658T>G (n.658T>G) c.969T>G (p.Asp323Glu) c.3435T>G (p.Asp1145Glu) c.656-776T>G (n.656-776T>G) c.3366T>G (p.Asp1122Glu) c.3429T>G (p.Asp1143Glu) c.3417T>G (p.Asp1139Glu) | |
2 | g.144389658A>G | CA429441138 | ZEB2 | c.*3287T>C (n.*3287T>C) c.2661T>C (p.Asp887=) c.3438T>C (p.Asp1146=) c.3326T>C (p.Met1109Thr) n.3407T>C c.3102T>C (p.Asp1034=) c.3513T>C (p.Asp1171=) c.*3155T>C (n.*3155T>C) n.3538T>C c.151+6754T>C (n.151+6754T>C) c.658T>C (n.658T>C) c.969T>C (p.Asp323=) c.3435T>C (p.Asp1145=) c.656-776T>C (n.656-776T>C) c.3366T>C (p.Asp1122=) c.3429T>C (p.Asp1143=) c.3417T>C (p.Asp1139=) | gnomAD v4 |
2 | g.144389658A>T | CA348699300 | ZEB2 | c.*3287T>A (n.*3287T>A) c.2661T>A (p.Asp887Glu) c.3438T>A (p.Asp1146Glu) c.3326T>A (p.Met1109Lys) n.3407T>A c.3102T>A (p.Asp1034Glu) c.3513T>A (p.Asp1171Glu) c.*3155T>A (n.*3155T>A) n.3538T>A c.151+6754T>A (n.151+6754T>A) c.658T>A (n.658T>A) c.969T>A (p.Asp323Glu) c.3435T>A (p.Asp1145Glu) c.656-776T>A (n.656-776T>A) c.3366T>A (p.Asp1122Glu) c.3429T>A (p.Asp1143Glu) c.3417T>A (p.Asp1139Glu) | |
2 | g.144389659T>A | CA348699301 | ZEB2 | c.*3286A>T (n.*3286A>T) c.2660A>T (p.Asp887Val) c.3437A>T (p.Asp1146Val) c.3325A>T (p.Met1109Leu) n.3406A>T c.3101A>T (p.Asp1034Val) c.3512A>T (p.Asp1171Val) c.*3154A>T (n.*3154A>T) n.3537A>T c.151+6753A>T (n.151+6753A>T) c.657A>T (n.657A>T) c.968A>T (p.Asp323Val) c.3434A>T (p.Asp1145Val) c.656-777A>T (n.656-777A>T) c.3365A>T (p.Asp1122Val) c.3428A>T (p.Asp1143Val) c.3416A>T (p.Asp1139Val) | COSMIC |
2 | g.144389659T>C | CA348699303 | ZEB2 | c.*3286A>G (n.*3286A>G) c.2660A>G (p.Asp887Gly) c.3437A>G (p.Asp1146Gly) c.3325A>G (p.Met1109Val) n.3406A>G c.3101A>G (p.Asp1034Gly) c.3512A>G (p.Asp1171Gly) c.*3154A>G (n.*3154A>G) n.3537A>G c.151+6753A>G (n.151+6753A>G) c.657A>G (n.657A>G) c.968A>G (p.Asp323Gly) c.3434A>G (p.Asp1145Gly) c.656-777A>G (n.656-777A>G) c.3365A>G (p.Asp1122Gly) c.3428A>G (p.Asp1143Gly) c.3416A>G (p.Asp1139Gly) | |
2 | g.144389659T>G | CA348699302 | ZEB2 | c.*3286A>C (n.*3286A>C) c.2660A>C (p.Asp887Ala) c.3437A>C (p.Asp1146Ala) c.3325A>C (p.Met1109Leu) n.3406A>C c.3101A>C (p.Asp1034Ala) c.3512A>C (p.Asp1171Ala) c.*3154A>C (n.*3154A>C) n.3537A>C c.151+6753A>C (n.151+6753A>C) c.657A>C (n.657A>C) c.968A>C (p.Asp323Ala) c.3434A>C (p.Asp1145Ala) c.656-777A>C (n.656-777A>C) c.3365A>C (p.Asp1122Ala) c.3428A>C (p.Asp1143Ala) c.3416A>C (p.Asp1139Ala) | |
2 | g.144389660C>A | CA348699304 | ZEB2 | c.*3285G>T (n.*3285G>T) c.2659G>T (p.Asp887Tyr) c.3436G>T (p.Asp1146Tyr) c.3324G>T (p.Arg1108Ser) n.3405G>T c.3100G>T (p.Asp1034Tyr) c.3511G>T (p.Asp1171Tyr) c.*3153G>T (n.*3153G>T) n.3536G>T c.151+6752G>T (n.151+6752G>T) c.656G>T (n.656G>T) c.967G>T (p.Asp323Tyr) c.3433G>T (p.Asp1145Tyr) c.656-778G>T (n.656-778G>T) c.3364G>T (p.Asp1122Tyr) c.3427G>T (p.Asp1143Tyr) c.3415G>T (p.Asp1139Tyr) | dbSNP |
2 | g.144389660C= | CA1294881288 | ZEB2 | c.*3285G= (n.*3285G=) c.2659G= (p.Asp887=) c.3436G= (p.Asp1146=) c.3324G= (p.Arg1108=) n.3405G= c.3100G= (p.Asp1034=) c.3511G= (p.Asp1171=) c.*3153G= (n.*3153G=) n.3536G= c.151+6752G= (n.151+6752G=) c.656G= (n.656G=) c.967G= (p.Asp323=) c.3433G= (p.Asp1145=) c.656-778G= (n.656-778G=) c.3364G= (p.Asp1122=) c.3427G= (p.Asp1143=) c.3415G= (p.Asp1139=) | |
2 | g.144389660C>G | CA348699306 | ZEB2 | c.*3285G>C (n.*3285G>C) c.2659G>C (p.Asp887His) c.3436G>C (p.Asp1146His) c.3324G>C (p.Arg1108Ser) n.3405G>C c.3100G>C (p.Asp1034His) c.3511G>C (p.Asp1171His) c.*3153G>C (n.*3153G>C) n.3536G>C c.151+6752G>C (n.151+6752G>C) c.656G>C (n.656G>C) c.967G>C (p.Asp323His) c.3433G>C (p.Asp1145His) c.656-778G>C (n.656-778G>C) c.3364G>C (p.Asp1122His) c.3427G>C (p.Asp1143His) c.3415G>C (p.Asp1139His) | |
2 | g.144389660C>T | CA348699305 | ZEB2 | c.*3285G>A (n.*3285G>A) c.2659G>A (p.Asp887Asn) c.3436G>A (p.Asp1146Asn) c.3324G>A (p.Arg1108=) n.3405G>A c.3100G>A (p.Asp1034Asn) c.3511G>A (p.Asp1171Asn) c.*3153G>A (n.*3153G>A) n.3536G>A c.151+6752G>A (n.151+6752G>A) c.656G>A (n.656G>A) c.967G>A (p.Asp323Asn) c.3433G>A (p.Asp1145Asn) c.656-778G>A (n.656-778G>A) c.3364G>A (p.Asp1122Asn) c.3427G>A (p.Asp1143Asn) c.3415G>A (p.Asp1139Asn) | |
2 | g.144389661C>A | CA348699307 | ZEB2 | c.*3284G>T (n.*3284G>T) c.2658G>T (p.Glu886Asp) c.3435G>T (p.Glu1145Asp) c.3323G>T (p.Arg1108Met) n.3404G>T c.3099G>T (p.Glu1033Asp) c.3510G>T (p.Glu1170Asp) c.*3152G>T (n.*3152G>T) n.3535G>T c.151+6751G>T (n.151+6751G>T) c.655G>T (n.655G>T) c.966G>T (p.Glu322Asp) c.3432G>T (p.Glu1144Asp) c.656-779G>T (n.656-779G>T) c.3363G>T (p.Glu1121Asp) c.3426G>T (p.Glu1142Asp) c.3414G>T (p.Glu1138Asp) | |
2 | g.144389661C>G | CA348699308 | ZEB2 | c.*3284G>C (n.*3284G>C) c.2658G>C (p.Glu886Asp) c.3435G>C (p.Glu1145Asp) c.3323G>C (p.Arg1108Thr) n.3404G>C c.3099G>C (p.Glu1033Asp) c.3510G>C (p.Glu1170Asp) c.*3152G>C (n.*3152G>C) n.3535G>C c.151+6751G>C (n.151+6751G>C) c.655G>C (n.655G>C) c.966G>C (p.Glu322Asp) c.3432G>C (p.Glu1144Asp) c.656-779G>C (n.656-779G>C) c.3363G>C (p.Glu1121Asp) c.3426G>C (p.Glu1142Asp) c.3414G>C (p.Glu1138Asp) | ClinVar gnomAD v4 |
2 | g.144389661C>T | CA429441139 | ZEB2 | c.*3284G>A (n.*3284G>A) c.2658G>A (p.Glu886=) c.3435G>A (p.Glu1145=) c.3323G>A (p.Arg1108Lys) n.3404G>A c.3099G>A (p.Glu1033=) c.3510G>A (p.Glu1170=) c.*3152G>A (n.*3152G>A) n.3535G>A c.151+6751G>A (n.151+6751G>A) c.655G>A (n.655G>A) c.966G>A (p.Glu322=) c.3432G>A (p.Glu1144=) c.656-779G>A (n.656-779G>A) c.3363G>A (p.Glu1121=) c.3426G>A (p.Glu1142=) c.3414G>A (p.Glu1138=) | gnomAD v4 |
2 | g.144389662T>A | CA348699309 | ZEB2 | c.*3283A>T (n.*3283A>T) c.2657A>T (p.Glu886Val) c.3434A>T (p.Glu1145Val) c.3322A>T (p.Arg1108Trp) n.3403A>T c.3098A>T (p.Glu1033Val) c.3509A>T (p.Glu1170Val) c.*3151A>T (n.*3151A>T) n.3534A>T c.151+6750A>T (n.151+6750A>T) c.654A>T (n.654A>T) c.965A>T (p.Glu322Val) c.3431A>T (p.Glu1144Val) c.656-780A>T (n.656-780A>T) c.3362A>T (p.Glu1121Val) c.3425A>T (p.Glu1142Val) c.3413A>T (p.Glu1138Val) | |
2 | g.144389662T>C | CA348699310 | ZEB2 | c.*3283A>G (n.*3283A>G) c.2657A>G (p.Glu886Gly) c.3434A>G (p.Glu1145Gly) c.3322A>G (p.Arg1108Gly) n.3403A>G c.3098A>G (p.Glu1033Gly) c.3509A>G (p.Glu1170Gly) c.*3151A>G (n.*3151A>G) n.3534A>G c.151+6750A>G (n.151+6750A>G) c.654A>G (n.654A>G) c.965A>G (p.Glu322Gly) c.3431A>G (p.Glu1144Gly) c.656-780A>G (n.656-780A>G) c.3362A>G (p.Glu1121Gly) c.3425A>G (p.Glu1142Gly) c.3413A>G (p.Glu1138Gly) | gnomAD v4 |
2 | g.144389662T>G | CA348699311 | ZEB2 | c.*3283A>C (n.*3283A>C) c.2657A>C (p.Glu886Ala) c.3434A>C (p.Glu1145Ala) c.3322A>C (p.Arg1108=) n.3403A>C c.3098A>C (p.Glu1033Ala) c.3509A>C (p.Glu1170Ala) c.*3151A>C (n.*3151A>C) n.3534A>C c.151+6750A>C (n.151+6750A>C) c.654A>C (n.654A>C) c.965A>C (p.Glu322Ala) c.3431A>C (p.Glu1144Ala) c.656-780A>C (n.656-780A>C) c.3362A>C (p.Glu1121Ala) c.3425A>C (p.Glu1142Ala) c.3413A>C (p.Glu1138Ala) | |
2 | g.144389663C>A | CA348699312 | ZEB2 | c.*3282G>T (n.*3282G>T) c.2656G>T (p.Glu886Ter) c.3433G>T (p.Glu1145Ter) c.3321G>T (p.Ala1107=) n.3402G>T c.3097G>T (p.Glu1033Ter) c.3508G>T (p.Glu1170Ter) c.*3150G>T (n.*3150G>T) n.3533G>T c.151+6749G>T (n.151+6749G>T) c.653G>T (n.653G>T) c.964G>T (p.Glu322Ter) c.3430G>T (p.Glu1144Ter) c.656-781G>T (n.656-781G>T) c.3361G>T (p.Glu1121Ter) c.3424G>T (p.Glu1142Ter) c.3412G>T (p.Glu1138Ter) | |
2 | g.144389663C>G | CA348699313 | ZEB2 | c.*3282G>C (n.*3282G>C) c.2656G>C (p.Glu886Gln) c.3433G>C (p.Glu1145Gln) c.3321G>C (p.Ala1107=) n.3402G>C c.3097G>C (p.Glu1033Gln) c.3508G>C (p.Glu1170Gln) c.*3150G>C (n.*3150G>C) n.3533G>C c.151+6749G>C (n.151+6749G>C) c.653G>C (n.653G>C) c.964G>C (p.Glu322Gln) c.3430G>C (p.Glu1144Gln) c.656-781G>C (n.656-781G>C) c.3361G>C (p.Glu1121Gln) c.3424G>C (p.Glu1142Gln) c.3412G>C (p.Glu1138Gln) | gnomAD v4 |
2 | g.144389663C>T | CA348699314 | ZEB2 | c.*3282G>A (n.*3282G>A) c.2656G>A (p.Glu886Lys) c.3433G>A (p.Glu1145Lys) c.3321G>A (p.Ala1107=) n.3402G>A c.3097G>A (p.Glu1033Lys) c.3508G>A (p.Glu1170Lys) c.*3150G>A (n.*3150G>A) n.3533G>A c.151+6749G>A (n.151+6749G>A) c.653G>A (n.653G>A) c.964G>A (p.Glu322Lys) c.3430G>A (p.Glu1144Lys) c.656-781G>A (n.656-781G>A) c.3361G>A (p.Glu1121Lys) c.3424G>A (p.Glu1142Lys) c.3412G>A (p.Glu1138Lys) | gnomAD v4 |
2 | g.144389664G>A | CA1898118 | ZEB2 | c.*3281C>T (n.*3281C>T) c.2655C>T (p.Gly885=) c.3432C>T (p.Gly1144=) c.3320C>T (p.Ala1107Val) n.3401C>T c.3096C>T (p.Gly1032=) c.3507C>T (p.Gly1169=) c.*3149C>T (n.*3149C>T) n.3532C>T c.151+6748C>T (n.151+6748C>T) c.652C>T (n.652C>T) c.963C>T (p.Gly321=) c.3429C>T (p.Gly1143=) c.656-782C>T (n.656-782C>T) c.3360C>T (p.Gly1120=) c.3423C>T (p.Gly1141=) c.3411C>T (p.Gly1137=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.144389664G>C | CA429441140 | ZEB2 | c.*3281C>G (n.*3281C>G) c.2655C>G (p.Gly885=) c.3432C>G (p.Gly1144=) c.3320C>G (p.Ala1107Gly) n.3401C>G c.3096C>G (p.Gly1032=) c.3507C>G (p.Gly1169=) c.*3149C>G (n.*3149C>G) n.3532C>G c.151+6748C>G (n.151+6748C>G) c.652C>G (n.652C>G) c.963C>G (p.Gly321=) c.3429C>G (p.Gly1143=) c.656-782C>G (n.656-782C>G) c.3360C>G (p.Gly1120=) c.3423C>G (p.Gly1141=) c.3411C>G (p.Gly1137=) | |
2 | g.144389664G= | CA1294881289 | ZEB2 | c.*3281C= (n.*3281C=) c.2655C= (p.Gly885=) c.3432C= (p.Gly1144=) c.3320C= (p.Ala1107=) n.3401C= c.3096C= (p.Gly1032=) c.3507C= (p.Gly1169=) c.*3149C= (n.*3149C=) n.3532C= c.151+6748C= (n.151+6748C=) c.652C= (n.652C=) c.963C= (p.Gly321=) c.3429C= (p.Gly1143=) c.656-782C= (n.656-782C=) c.3360C= (p.Gly1120=) c.3423C= (p.Gly1141=) c.3411C= (p.Gly1137=) | |
2 | g.144389664G>T | CA429441141 | ZEB2 | c.*3281C>A (n.*3281C>A) c.2655C>A (p.Gly885=) c.3432C>A (p.Gly1144=) c.3320C>A (p.Ala1107Glu) n.3401C>A c.3096C>A (p.Gly1032=) c.3507C>A (p.Gly1169=) c.*3149C>A (n.*3149C>A) n.3532C>A c.151+6748C>A (n.151+6748C>A) c.652C>A (n.652C>A) c.963C>A (p.Gly321=) c.3429C>A (p.Gly1143=) c.656-782C>A (n.656-782C>A) c.3360C>A (p.Gly1120=) c.3423C>A (p.Gly1141=) c.3411C>A (p.Gly1137=) | |
2 | g.144389665C>A | CA348699317 | ZEB2 | c.*3280G>T (n.*3280G>T) c.2654G>T (p.Gly885Val) c.3431G>T (p.Gly1144Val) c.3319G>T (p.Ala1107Ser) n.3400G>T c.3095G>T (p.Gly1032Val) c.3506G>T (p.Gly1169Val) c.*3148G>T (n.*3148G>T) n.3531G>T c.151+6747G>T (n.151+6747G>T) c.651G>T (n.651G>T) c.962G>T (p.Gly321Val) c.3428G>T (p.Gly1143Val) c.656-783G>T (n.656-783G>T) c.3359G>T (p.Gly1120Val) c.3422G>T (p.Gly1141Val) c.3410G>T (p.Gly1137Val) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.144389665C= | CA1294881290 | ZEB2 | c.*3280G= (n.*3280G=) c.2654G= (p.Gly885=) c.3431G= (p.Gly1144=) c.3319G= (p.Ala1107=) n.3400G= c.3095G= (p.Gly1032=) c.3506G= (p.Gly1169=) c.*3148G= (n.*3148G=) n.3531G= c.151+6747G= (n.151+6747G=) c.651G= (n.651G=) c.962G= (p.Gly321=) c.3428G= (p.Gly1143=) c.656-783G= (n.656-783G=) c.3359G= (p.Gly1120=) c.3422G= (p.Gly1141=) c.3410G= (p.Gly1137=) | |
2 | g.144389665C>G | CA348699316 | ZEB2 | c.*3280G>C (n.*3280G>C) c.2654G>C (p.Gly885Ala) c.3431G>C (p.Gly1144Ala) c.3319G>C (p.Ala1107Pro) n.3400G>C c.3095G>C (p.Gly1032Ala) c.3506G>C (p.Gly1169Ala) c.*3148G>C (n.*3148G>C) n.3531G>C c.151+6747G>C (n.151+6747G>C) c.651G>C (n.651G>C) c.962G>C (p.Gly321Ala) c.3428G>C (p.Gly1143Ala) c.656-783G>C (n.656-783G>C) c.3359G>C (p.Gly1120Ala) c.3422G>C (p.Gly1141Ala) c.3410G>C (p.Gly1137Ala) | |
2 | g.144389665C>T | CA348699315 | ZEB2 | c.*3280G>A (n.*3280G>A) c.2654G>A (p.Gly885Asp) c.3431G>A (p.Gly1144Asp) c.3319G>A (p.Ala1107Thr) n.3400G>A c.3095G>A (p.Gly1032Asp) c.3506G>A (p.Gly1169Asp) c.*3148G>A (n.*3148G>A) n.3531G>A c.151+6747G>A (n.151+6747G>A) c.651G>A (n.651G>A) c.962G>A (p.Gly321Asp) c.3428G>A (p.Gly1143Asp) c.656-783G>A (n.656-783G>A) c.3359G>A (p.Gly1120Asp) c.3422G>A (p.Gly1141Asp) c.3410G>A (p.Gly1137Asp) | |
2 | g.144389666C>A | CA348699318 | ZEB2 | c.*3279G>T (n.*3279G>T) c.2653G>T (p.Gly885Cys) c.3430G>T (p.Gly1144Cys) c.3318G>T (p.Lys1106Asn) n.3399G>T c.3094G>T (p.Gly1032Cys) c.3505G>T (p.Gly1169Cys) c.*3147G>T (n.*3147G>T) n.3530G>T c.151+6746G>T (n.151+6746G>T) c.650G>T (n.650G>T) c.961G>T (p.Gly321Cys) c.3427G>T (p.Gly1143Cys) c.656-784G>T (n.656-784G>T) c.3358G>T (p.Gly1120Cys) c.3421G>T (p.Gly1141Cys) c.3409G>T (p.Gly1137Cys) | ClinVar dbSNP |
2 | g.144389666C= | CA1294881291 | ZEB2 | c.*3279G= (n.*3279G=) c.2653G= (p.Gly885=) c.3430G= (p.Gly1144=) c.3318G= (p.Lys1106=) n.3399G= c.3094G= (p.Gly1032=) c.3505G= (p.Gly1169=) c.*3147G= (n.*3147G=) n.3530G= c.151+6746G= (n.151+6746G=) c.650G= (n.650G=) c.961G= (p.Gly321=) c.3427G= (p.Gly1143=) c.656-784G= (n.656-784G=) c.3358G= (p.Gly1120=) c.3421G= (p.Gly1141=) c.3409G= (p.Gly1137=) | |
2 | g.144389666C>G | CA348699319 | ZEB2 | c.*3279G>C (n.*3279G>C) c.2653G>C (p.Gly885Arg) c.3430G>C (p.Gly1144Arg) c.3318G>C (p.Lys1106Asn) n.3399G>C c.3094G>C (p.Gly1032Arg) c.3505G>C (p.Gly1169Arg) c.*3147G>C (n.*3147G>C) n.3530G>C c.151+6746G>C (n.151+6746G>C) c.650G>C (n.650G>C) c.961G>C (p.Gly321Arg) c.3427G>C (p.Gly1143Arg) c.656-784G>C (n.656-784G>C) c.3358G>C (p.Gly1120Arg) c.3421G>C (p.Gly1141Arg) c.3409G>C (p.Gly1137Arg) | |
2 | g.144389666C>T | CA348699320 | ZEB2 | c.*3279G>A (n.*3279G>A) c.2653G>A (p.Gly885Ser) c.3430G>A (p.Gly1144Ser) c.3318G>A (p.Lys1106=) n.3399G>A c.3094G>A (p.Gly1032Ser) c.3505G>A (p.Gly1169Ser) c.*3147G>A (n.*3147G>A) n.3530G>A c.151+6746G>A (n.151+6746G>A) c.650G>A (n.650G>A) c.961G>A (p.Gly321Ser) c.3427G>A (p.Gly1143Ser) c.656-784G>A (n.656-784G>A) c.3358G>A (p.Gly1120Ser) c.3421G>A (p.Gly1141Ser) c.3409G>A (p.Gly1137Ser) | ClinVar dbSNP |
2 | g.144389667T>A | CA348699321 | ZEB2 | c.*3278A>T (n.*3278A>T) c.2652A>T (p.Glu884Asp) c.3429A>T (p.Glu1143Asp) c.3317A>T (p.Lys1106Met) n.3398A>T c.3093A>T (p.Glu1031Asp) c.3504A>T (p.Glu1168Asp) c.*3146A>T (n.*3146A>T) n.3529A>T c.151+6745A>T (n.151+6745A>T) c.649A>T (n.649A>T) c.960A>T (p.Glu320Asp) c.3426A>T (p.Glu1142Asp) c.656-785A>T (n.656-785A>T) c.3357A>T (p.Glu1119Asp) c.3420A>T (p.Glu1140Asp) c.3408A>T (p.Glu1136Asp) | |
2 | g.144389667T>C | CA429441142 | ZEB2 | c.*3278A>G (n.*3278A>G) c.2652A>G (p.Glu884=) c.3429A>G (p.Glu1143=) c.3317A>G (p.Lys1106Arg) n.3398A>G c.3093A>G (p.Glu1031=) c.3504A>G (p.Glu1168=) c.*3146A>G (n.*3146A>G) n.3529A>G c.151+6745A>G (n.151+6745A>G) c.649A>G (n.649A>G) c.960A>G (p.Glu320=) c.3426A>G (p.Glu1142=) c.656-785A>G (n.656-785A>G) c.3357A>G (p.Glu1119=) c.3420A>G (p.Glu1140=) c.3408A>G (p.Glu1136=) | |
2 | g.144389667T>G | CA348699322 | ZEB2 | c.*3278A>C (n.*3278A>C) c.2652A>C (p.Glu884Asp) c.3429A>C (p.Glu1143Asp) c.3317A>C (p.Lys1106Thr) n.3398A>C c.3093A>C (p.Glu1031Asp) c.3504A>C (p.Glu1168Asp) c.*3146A>C (n.*3146A>C) n.3529A>C c.151+6745A>C (n.151+6745A>C) c.649A>C (n.649A>C) c.960A>C (p.Glu320Asp) c.3426A>C (p.Glu1142Asp) c.656-785A>C (n.656-785A>C) c.3357A>C (p.Glu1119Asp) c.3420A>C (p.Glu1140Asp) c.3408A>C (p.Glu1136Asp) | |
2 | g.144389668T>A | CA348699323 | ZEB2 | c.*3277A>T (n.*3277A>T) c.2651A>T (p.Glu884Val) c.3428A>T (p.Glu1143Val) c.3316A>T (p.Lys1106Ter) n.3397A>T c.3092A>T (p.Glu1031Val) c.3503A>T (p.Glu1168Val) c.*3145A>T (n.*3145A>T) n.3528A>T c.151+6744A>T (n.151+6744A>T) c.648A>T (n.648A>T) c.959A>T (p.Glu320Val) c.3425A>T (p.Glu1142Val) c.656-786A>T (n.656-786A>T) c.3356A>T (p.Glu1119Val) c.3419A>T (p.Glu1140Val) c.3407A>T (p.Glu1136Val) | COSMIC |
2 | g.144389668T>C | CA348699324 | ZEB2 | c.*3277A>G (n.*3277A>G) c.2651A>G (p.Glu884Gly) c.3428A>G (p.Glu1143Gly) c.3316A>G (p.Lys1106Glu) n.3397A>G c.3092A>G (p.Glu1031Gly) c.3503A>G (p.Glu1168Gly) c.*3145A>G (n.*3145A>G) n.3528A>G c.151+6744A>G (n.151+6744A>G) c.648A>G (n.648A>G) c.959A>G (p.Glu320Gly) c.3425A>G (p.Glu1142Gly) c.656-786A>G (n.656-786A>G) c.3356A>G (p.Glu1119Gly) c.3419A>G (p.Glu1140Gly) c.3407A>G (p.Glu1136Gly) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.144389668T>G | CA348699325 | ZEB2 | c.*3277A>C (n.*3277A>C) c.2651A>C (p.Glu884Ala) c.3428A>C (p.Glu1143Ala) c.3316A>C (p.Lys1106Gln) n.3397A>C c.3092A>C (p.Glu1031Ala) c.3503A>C (p.Glu1168Ala) c.*3145A>C (n.*3145A>C) n.3528A>C c.151+6744A>C (n.151+6744A>C) c.648A>C (n.648A>C) c.959A>C (p.Glu320Ala) c.3425A>C (p.Glu1142Ala) c.656-786A>C (n.656-786A>C) c.3356A>C (p.Glu1119Ala) c.3419A>C (p.Glu1140Ala) c.3407A>C (p.Glu1136Ala) | |
2 | g.144389668T= | CA1294881292 | ZEB2 | c.*3277A= (n.*3277A=) c.2651A= (p.Glu884=) c.3428A= (p.Glu1143=) c.3316A= (p.Lys1106=) n.3397A= c.3092A= (p.Glu1031=) c.3503A= (p.Glu1168=) c.*3145A= (n.*3145A=) n.3528A= c.151+6744A= (n.151+6744A=) c.648A= (n.648A=) c.959A= (p.Glu320=) c.3425A= (p.Glu1142=) c.656-786A= (n.656-786A=) c.3356A= (p.Glu1119=) c.3419A= (p.Glu1140=) c.3407A= (p.Glu1136=) | |
2 | g.144389669C>A | CA348699326 | ZEB2 | c.*3276G>T (n.*3276G>T) c.2650G>T (p.Glu884Ter) c.3427G>T (p.Glu1143Ter) c.3315G>T (p.Lys1105Asn) n.3396G>T c.3091G>T (p.Glu1031Ter) c.3502G>T (p.Glu1168Ter) c.*3144G>T (n.*3144G>T) n.3527G>T c.151+6743G>T (n.151+6743G>T) c.647G>T (n.647G>T) c.958G>T (p.Glu320Ter) c.3424G>T (p.Glu1142Ter) c.656-787G>T (n.656-787G>T) c.3355G>T (p.Glu1119Ter) c.3418G>T (p.Glu1140Ter) c.3406G>T (p.Glu1136Ter) | COSMIC |
2 | g.144389669C>G | CA348699327 | ZEB2 | c.*3276G>C (n.*3276G>C) c.2650G>C (p.Glu884Gln) c.3427G>C (p.Glu1143Gln) c.3315G>C (p.Lys1105Asn) n.3396G>C c.3091G>C (p.Glu1031Gln) c.3502G>C (p.Glu1168Gln) c.*3144G>C (n.*3144G>C) n.3527G>C c.151+6743G>C (n.151+6743G>C) c.647G>C (n.647G>C) c.958G>C (p.Glu320Gln) c.3424G>C (p.Glu1142Gln) c.656-787G>C (n.656-787G>C) c.3355G>C (p.Glu1119Gln) c.3418G>C (p.Glu1140Gln) c.3406G>C (p.Glu1136Gln) | |
2 | g.144389669C>T | CA348699328 | ZEB2 | c.*3276G>A (n.*3276G>A) c.2650G>A (p.Glu884Lys) c.3427G>A (p.Glu1143Lys) c.3315G>A (p.Lys1105=) n.3396G>A c.3091G>A (p.Glu1031Lys) c.3502G>A (p.Glu1168Lys) c.*3144G>A (n.*3144G>A) n.3527G>A c.151+6743G>A (n.151+6743G>A) c.647G>A (n.647G>A) c.958G>A (p.Glu320Lys) c.3424G>A (p.Glu1142Lys) c.656-787G>A (n.656-787G>A) c.3355G>A (p.Glu1119Lys) c.3418G>A (p.Glu1140Lys) c.3406G>A (p.Glu1136Lys) | |
2 | g.144389670T>A | CA348699330 | ZEB2 | c.*3275A>T (n.*3275A>T) c.2649A>T (p.Lys883Asn) c.3426A>T (p.Lys1142Asn) c.3314A>T (p.Lys1105Met) n.3395A>T c.3090A>T (p.Lys1030Asn) c.3501A>T (p.Lys1167Asn) c.*3143A>T (n.*3143A>T) n.3526A>T c.151+6742A>T (n.151+6742A>T) c.646A>T (n.646A>T) c.957A>T (p.Lys319Asn) c.3423A>T (p.Lys1141Asn) c.656-788A>T (n.656-788A>T) c.3354A>T (p.Lys1118Asn) c.3417A>T (p.Lys1139Asn) c.3405A>T (p.Lys1135Asn) | |
2 | g.144389670T>C | CA1898119 | ZEB2 | c.*3275A>G (n.*3275A>G) c.2649A>G (p.Lys883=) c.3426A>G (p.Lys1142=) c.3314A>G (p.Lys1105Arg) n.3395A>G c.3090A>G (p.Lys1030=) c.3501A>G (p.Lys1167=) c.*3143A>G (n.*3143A>G) n.3526A>G c.151+6742A>G (n.151+6742A>G) c.646A>G (n.646A>G) c.957A>G (p.Lys319=) c.3423A>G (p.Lys1141=) c.656-788A>G (n.656-788A>G) c.3354A>G (p.Lys1118=) c.3417A>G (p.Lys1139=) c.3405A>G (p.Lys1135=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.144389670T>G | CA348699329 | ZEB2 | c.*3275A>C (n.*3275A>C) c.2649A>C (p.Lys883Asn) c.3426A>C (p.Lys1142Asn) c.3314A>C (p.Lys1105Thr) n.3395A>C c.3090A>C (p.Lys1030Asn) c.3501A>C (p.Lys1167Asn) c.*3143A>C (n.*3143A>C) n.3526A>C c.151+6742A>C (n.151+6742A>C) c.646A>C (n.646A>C) c.957A>C (p.Lys319Asn) c.3423A>C (p.Lys1141Asn) c.656-788A>C (n.656-788A>C) c.3354A>C (p.Lys1118Asn) c.3417A>C (p.Lys1139Asn) c.3405A>C (p.Lys1135Asn) | |
2 | g.144389670T= | CA1294881293 | ZEB2 | c.*3275A= (n.*3275A=) c.2649A= (p.Lys883=) c.3426A= (p.Lys1142=) c.3314A= (p.Lys1105=) n.3395A= c.3090A= (p.Lys1030=) c.3501A= (p.Lys1167=) c.*3143A= (n.*3143A=) n.3526A= c.151+6742A= (n.151+6742A=) c.646A= (n.646A=) c.957A= (p.Lys319=) c.3423A= (p.Lys1141=) c.656-788A= (n.656-788A=) c.3354A= (p.Lys1118=) c.3417A= (p.Lys1139=) c.3405A= (p.Lys1135=) | |
2 | g.144389671T>A | CA348699331 | ZEB2 | c.*3274A>T (n.*3274A>T) c.2648A>T (p.Lys883Ile) c.3425A>T (p.Lys1142Ile) c.3313A>T (p.Lys1105Ter) n.3394A>T c.3089A>T (p.Lys1030Ile) c.3500A>T (p.Lys1167Ile) c.*3142A>T (n.*3142A>T) n.3525A>T c.151+6741A>T (n.151+6741A>T) c.645A>T (n.645A>T) c.956A>T (p.Lys319Ile) c.3422A>T (p.Lys1141Ile) c.656-789A>T (n.656-789A>T) c.3353A>T (p.Lys1118Ile) c.3416A>T (p.Lys1139Ile) c.3404A>T (p.Lys1135Ile) | |
2 | g.144389671T>C | CA348699332 | ZEB2 | c.*3274A>G (n.*3274A>G) c.2648A>G (p.Lys883Arg) c.3425A>G (p.Lys1142Arg) c.3313A>G (p.Lys1105Glu) n.3394A>G c.3089A>G (p.Lys1030Arg) c.3500A>G (p.Lys1167Arg) c.*3142A>G (n.*3142A>G) n.3525A>G c.151+6741A>G (n.151+6741A>G) c.645A>G (n.645A>G) c.956A>G (p.Lys319Arg) c.3422A>G (p.Lys1141Arg) c.656-789A>G (n.656-789A>G) c.3353A>G (p.Lys1118Arg) c.3416A>G (p.Lys1139Arg) c.3404A>G (p.Lys1135Arg) | |
2 | g.144389671T>G | CA348699333 | ZEB2 | c.*3274A>C (n.*3274A>C) c.2648A>C (p.Lys883Thr) c.3425A>C (p.Lys1142Thr) c.3313A>C (p.Lys1105Gln) n.3394A>C c.3089A>C (p.Lys1030Thr) c.3500A>C (p.Lys1167Thr) c.*3142A>C (n.*3142A>C) n.3525A>C c.151+6741A>C (n.151+6741A>C) c.645A>C (n.645A>C) c.956A>C (p.Lys319Thr) c.3422A>C (p.Lys1141Thr) c.656-789A>C (n.656-789A>C) c.3353A>C (p.Lys1118Thr) c.3416A>C (p.Lys1139Thr) c.3404A>C (p.Lys1135Thr) | |
2 | g.144389672T>A | CA348699334 | ZEB2 | c.*3273A>T (n.*3273A>T) c.2647A>T (p.Lys883Ter) c.3424A>T (p.Lys1142Ter) c.3312A>T (p.Arg1104Ser) n.3393A>T c.3088A>T (p.Lys1030Ter) c.3499A>T (p.Lys1167Ter) c.*3141A>T (n.*3141A>T) n.3524A>T c.151+6740A>T (n.151+6740A>T) c.644A>T (n.644A>T) c.955A>T (p.Lys319Ter) c.3421A>T (p.Lys1141Ter) c.656-790A>T (n.656-790A>T) c.3352A>T (p.Lys1118Ter) c.3415A>T (p.Lys1139Ter) c.3403A>T (p.Lys1135Ter) | |
2 | g.144389672T>C | CA348699335 | ZEB2 | c.*3273A>G (n.*3273A>G) c.2647A>G (p.Lys883Glu) c.3424A>G (p.Lys1142Glu) c.3312A>G (p.Arg1104=) n.3393A>G c.3088A>G (p.Lys1030Glu) c.3499A>G (p.Lys1167Glu) c.*3141A>G (n.*3141A>G) n.3524A>G c.151+6740A>G (n.151+6740A>G) c.644A>G (n.644A>G) c.955A>G (p.Lys319Glu) c.3421A>G (p.Lys1141Glu) c.656-790A>G (n.656-790A>G) c.3352A>G (p.Lys1118Glu) c.3415A>G (p.Lys1139Glu) c.3403A>G (p.Lys1135Glu) | |
2 | g.144389672T>G | CA348699336 | ZEB2 | c.*3273A>C (n.*3273A>C) c.2647A>C (p.Lys883Gln) c.3424A>C (p.Lys1142Gln) c.3312A>C (p.Arg1104Ser) n.3393A>C c.3088A>C (p.Lys1030Gln) c.3499A>C (p.Lys1167Gln) c.*3141A>C (n.*3141A>C) n.3524A>C c.151+6740A>C (n.151+6740A>C) c.644A>C (n.644A>C) c.955A>C (p.Lys319Gln) c.3421A>C (p.Lys1141Gln) c.656-790A>C (n.656-790A>C) c.3352A>C (p.Lys1118Gln) c.3415A>C (p.Lys1139Gln) c.3403A>C (p.Lys1135Gln) |