| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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.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 |