Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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) | |
2 | g.144389673C>A | CA348699337 | ZEB2 | c.*3272G>T (n.*3272G>T) c.2646G>T (p.Glu882Asp) c.3423G>T (p.Glu1141Asp) c.3311G>T (p.Arg1104Ile) n.3392G>T c.3087G>T (p.Glu1029Asp) c.3498G>T (p.Glu1166Asp) c.*3140G>T (n.*3140G>T) n.3523G>T c.151+6739G>T (n.151+6739G>T) c.643G>T (n.643G>T) c.954G>T (p.Glu318Asp) c.3420G>T (p.Glu1140Asp) c.656-791G>T (n.656-791G>T) c.3351G>T (p.Glu1117Asp) c.3414G>T (p.Glu1138Asp) c.3402G>T (p.Glu1134Asp) | |
2 | g.144389673C= | CA1294881294 | ZEB2 | c.*3272G= (n.*3272G=) c.2646G= (p.Glu882=) c.3423G= (p.Glu1141=) c.3311G= (p.Arg1104=) n.3392G= c.3087G= (p.Glu1029=) c.3498G= (p.Glu1166=) c.*3140G= (n.*3140G=) n.3523G= c.151+6739G= (n.151+6739G=) c.643G= (n.643G=) c.954G= (p.Glu318=) c.3420G= (p.Glu1140=) c.656-791G= (n.656-791G=) c.3351G= (p.Glu1117=) c.3414G= (p.Glu1138=) c.3402G= (p.Glu1134=) | |
2 | g.144389673C>G | CA348699338 | ZEB2 | c.*3272G>C (n.*3272G>C) c.2646G>C (p.Glu882Asp) c.3423G>C (p.Glu1141Asp) c.3311G>C (p.Arg1104Thr) n.3392G>C c.3087G>C (p.Glu1029Asp) c.3498G>C (p.Glu1166Asp) c.*3140G>C (n.*3140G>C) n.3523G>C c.151+6739G>C (n.151+6739G>C) c.643G>C (n.643G>C) c.954G>C (p.Glu318Asp) c.3420G>C (p.Glu1140Asp) c.656-791G>C (n.656-791G>C) c.3351G>C (p.Glu1117Asp) c.3414G>C (p.Glu1138Asp) c.3402G>C (p.Glu1134Asp) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.144389673C>T | CA429441143 | ZEB2 | c.*3272G>A (n.*3272G>A) c.2646G>A (p.Glu882=) c.3423G>A (p.Glu1141=) c.3311G>A (p.Arg1104Lys) n.3392G>A c.3087G>A (p.Glu1029=) c.3498G>A (p.Glu1166=) c.*3140G>A (n.*3140G>A) n.3523G>A c.151+6739G>A (n.151+6739G>A) c.643G>A (n.643G>A) c.954G>A (p.Glu318=) c.3420G>A (p.Glu1140=) c.656-791G>A (n.656-791G>A) c.3351G>A (p.Glu1117=) c.3414G>A (p.Glu1138=) c.3402G>A (p.Glu1134=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.144389674T>A | CA348699339 | ZEB2 | c.*3271A>T (n.*3271A>T) c.2645A>T (p.Glu882Val) c.3422A>T (p.Glu1141Val) c.3310A>T (p.Arg1104Ter) n.3391A>T c.3086A>T (p.Glu1029Val) c.3497A>T (p.Glu1166Val) c.*3139A>T (n.*3139A>T) n.3522A>T c.151+6738A>T (n.151+6738A>T) c.642A>T (n.642A>T) c.953A>T (p.Glu318Val) c.3419A>T (p.Glu1140Val) c.656-792A>T (n.656-792A>T) c.3350A>T (p.Glu1117Val) c.3413A>T (p.Glu1138Val) c.3401A>T (p.Glu1134Val) | |
2 | g.144389674T>C | CA348699340 | ZEB2 | c.*3271A>G (n.*3271A>G) c.2645A>G (p.Glu882Gly) c.3422A>G (p.Glu1141Gly) c.3310A>G (p.Arg1104Gly) n.3391A>G c.3086A>G (p.Glu1029Gly) c.3497A>G (p.Glu1166Gly) c.*3139A>G (n.*3139A>G) n.3522A>G c.151+6738A>G (n.151+6738A>G) c.642A>G (n.642A>G) c.953A>G (p.Glu318Gly) c.3419A>G (p.Glu1140Gly) c.656-792A>G (n.656-792A>G) c.3350A>G (p.Glu1117Gly) c.3413A>G (p.Glu1138Gly) c.3401A>G (p.Glu1134Gly) | |
2 | g.144389674T>G | CA348699341 | ZEB2 | c.*3271A>C (n.*3271A>C) c.2645A>C (p.Glu882Ala) c.3422A>C (p.Glu1141Ala) c.3310A>C (p.Arg1104=) n.3391A>C c.3086A>C (p.Glu1029Ala) c.3497A>C (p.Glu1166Ala) c.*3139A>C (n.*3139A>C) n.3522A>C c.151+6738A>C (n.151+6738A>C) c.642A>C (n.642A>C) c.953A>C (p.Glu318Ala) c.3419A>C (p.Glu1140Ala) c.656-792A>C (n.656-792A>C) c.3350A>C (p.Glu1117Ala) c.3413A>C (p.Glu1138Ala) c.3401A>C (p.Glu1134Ala) | |
2 | g.144389675C>A | CA348699344 | ZEB2 | c.*3270G>T (n.*3270G>T) c.2644G>T (p.Glu882Ter) c.3421G>T (p.Glu1141Ter) c.3309G>T (p.Thr1103=) n.3390G>T c.3085G>T (p.Glu1029Ter) c.3496G>T (p.Glu1166Ter) c.*3138G>T (n.*3138G>T) n.3521G>T c.151+6737G>T (n.151+6737G>T) c.641G>T (n.641G>T) c.952G>T (p.Glu318Ter) c.3418G>T (p.Glu1140Ter) c.656-793G>T (n.656-793G>T) c.3349G>T (p.Glu1117Ter) c.3412G>T (p.Glu1138Ter) c.3400G>T (p.Glu1134Ter) | |
2 | g.144389675C>G | CA348699343 | ZEB2 | c.*3270G>C (n.*3270G>C) c.2644G>C (p.Glu882Gln) c.3421G>C (p.Glu1141Gln) c.3309G>C (p.Thr1103=) n.3390G>C c.3085G>C (p.Glu1029Gln) c.3496G>C (p.Glu1166Gln) c.*3138G>C (n.*3138G>C) n.3521G>C c.151+6737G>C (n.151+6737G>C) c.641G>C (n.641G>C) c.952G>C (p.Glu318Gln) c.3418G>C (p.Glu1140Gln) c.656-793G>C (n.656-793G>C) c.3349G>C (p.Glu1117Gln) c.3412G>C (p.Glu1138Gln) c.3400G>C (p.Glu1134Gln) | |
2 | g.144389675C>T | CA348699342 | ZEB2 | c.*3270G>A (n.*3270G>A) c.2644G>A (p.Glu882Lys) c.3421G>A (p.Glu1141Lys) c.3309G>A (p.Thr1103=) n.3390G>A c.3085G>A (p.Glu1029Lys) c.3496G>A (p.Glu1166Lys) c.*3138G>A (n.*3138G>A) n.3521G>A c.151+6737G>A (n.151+6737G>A) c.641G>A (n.641G>A) c.952G>A (p.Glu318Lys) c.3418G>A (p.Glu1140Lys) c.656-793G>A (n.656-793G>A) c.3349G>A (p.Glu1117Lys) c.3412G>A (p.Glu1138Lys) c.3400G>A (p.Glu1134Lys) | COSMIC |
2 | g.144389676G>A | CA429441144 | ZEB2 | c.*3269C>T (n.*3269C>T) c.2643C>T (p.His881=) c.3420C>T (p.His1140=) c.3308C>T (p.Thr1103Met) n.3389C>T c.3084C>T (p.His1028=) c.3495C>T (p.His1165=) c.*3137C>T (n.*3137C>T) n.3520C>T c.151+6736C>T (n.151+6736C>T) c.640C>T (n.640C>T) c.951C>T (p.His317=) c.3417C>T (p.His1139=) c.656-794C>T (n.656-794C>T) c.3348C>T (p.His1116=) c.3411C>T (p.His1137=) c.3399C>T (p.His1133=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.144389676G>C | CA348699345 | ZEB2 | c.*3269C>G (n.*3269C>G) c.2643C>G (p.His881Gln) c.3420C>G (p.His1140Gln) c.3308C>G (p.Thr1103Arg) n.3389C>G c.3084C>G (p.His1028Gln) c.3495C>G (p.His1165Gln) c.*3137C>G (n.*3137C>G) n.3520C>G c.151+6736C>G (n.151+6736C>G) c.640C>G (n.640C>G) c.951C>G (p.His317Gln) c.3417C>G (p.His1139Gln) c.656-794C>G (n.656-794C>G) c.3348C>G (p.His1116Gln) c.3411C>G (p.His1137Gln) c.3399C>G (p.His1133Gln) | dbSNP |
2 | g.144389676G= | CA1294881295 | ZEB2 | c.*3269C= (n.*3269C=) c.2643C= (p.His881=) c.3420C= (p.His1140=) c.3308C= (p.Thr1103=) n.3389C= c.3084C= (p.His1028=) c.3495C= (p.His1165=) c.*3137C= (n.*3137C=) n.3520C= c.151+6736C= (n.151+6736C=) c.640C= (n.640C=) c.951C= (p.His317=) c.3417C= (p.His1139=) c.656-794C= (n.656-794C=) c.3348C= (p.His1116=) c.3411C= (p.His1137=) c.3399C= (p.His1133=) | |
2 | g.144389676G>T | CA348699346 | ZEB2 | c.*3269C>A (n.*3269C>A) c.2643C>A (p.His881Gln) c.3420C>A (p.His1140Gln) c.3308C>A (p.Thr1103Lys) n.3389C>A c.3084C>A (p.His1028Gln) c.3495C>A (p.His1165Gln) c.*3137C>A (n.*3137C>A) n.3520C>A c.151+6736C>A (n.151+6736C>A) c.640C>A (n.640C>A) c.951C>A (p.His317Gln) c.3417C>A (p.His1139Gln) c.656-794C>A (n.656-794C>A) c.3348C>A (p.His1116Gln) c.3411C>A (p.His1137Gln) c.3399C>A (p.His1133Gln) | |
2 | g.144389677T>A | CA348699347 | ZEB2 | c.*3268A>T (n.*3268A>T) c.2642A>T (p.His881Leu) c.3419A>T (p.His1140Leu) c.3307A>T (p.Thr1103Ser) n.3388A>T c.3083A>T (p.His1028Leu) c.3494A>T (p.His1165Leu) c.*3136A>T (n.*3136A>T) n.3519A>T c.151+6735A>T (n.151+6735A>T) c.639A>T (n.639A>T) c.950A>T (p.His317Leu) c.3416A>T (p.His1139Leu) c.656-795A>T (n.656-795A>T) c.3347A>T (p.His1116Leu) c.3410A>T (p.His1137Leu) c.3398A>T (p.His1133Leu) | |
2 | g.144389677T>C | CA348699348 | ZEB2 | c.*3268A>G (n.*3268A>G) c.2642A>G (p.His881Arg) c.3419A>G (p.His1140Arg) c.3307A>G (p.Thr1103Ala) n.3388A>G c.3083A>G (p.His1028Arg) c.3494A>G (p.His1165Arg) c.*3136A>G (n.*3136A>G) n.3519A>G c.151+6735A>G (n.151+6735A>G) c.639A>G (n.639A>G) c.950A>G (p.His317Arg) c.3416A>G (p.His1139Arg) c.656-795A>G (n.656-795A>G) c.3347A>G (p.His1116Arg) c.3410A>G (p.His1137Arg) c.3398A>G (p.His1133Arg) | dbSNP |
2 | g.144389677T>G | CA348699349 | ZEB2 | c.*3268A>C (n.*3268A>C) c.2642A>C (p.His881Pro) c.3419A>C (p.His1140Pro) c.3307A>C (p.Thr1103Pro) n.3388A>C c.3083A>C (p.His1028Pro) c.3494A>C (p.His1165Pro) c.*3136A>C (n.*3136A>C) n.3519A>C c.151+6735A>C (n.151+6735A>C) c.639A>C (n.639A>C) c.950A>C (p.His317Pro) c.3416A>C (p.His1139Pro) c.656-795A>C (n.656-795A>C) c.3347A>C (p.His1116Pro) c.3410A>C (p.His1137Pro) c.3398A>C (p.His1133Pro) | gnomAD v4 |
2 | g.144389677T= | CA1294881296 | ZEB2 | c.*3268A= (n.*3268A=) c.2642A= (p.His881=) c.3419A= (p.His1140=) c.3307A= (p.Thr1103=) n.3388A= c.3083A= (p.His1028=) c.3494A= (p.His1165=) c.*3136A= (n.*3136A=) n.3519A= c.151+6735A= (n.151+6735A=) c.639A= (n.639A=) c.950A= (p.His317=) c.3416A= (p.His1139=) c.656-795A= (n.656-795A=) c.3347A= (p.His1116=) c.3410A= (p.His1137=) c.3398A= (p.His1133=) | |
2 | g.144389678G>A | CA348699350 | ZEB2 | c.*3267C>T (n.*3267C>T) c.2641C>T (p.His881Tyr) c.3418C>T (p.His1140Tyr) c.3306C>T (p.Ser1102=) n.3387C>T c.3082C>T (p.His1028Tyr) c.3493C>T (p.His1165Tyr) c.*3135C>T (n.*3135C>T) n.3518C>T c.151+6734C>T (n.151+6734C>T) c.638C>T (n.638C>T) c.949C>T (p.His317Tyr) c.3415C>T (p.His1139Tyr) c.656-796C>T (n.656-796C>T) c.3346C>T (p.His1116Tyr) c.3409C>T (p.His1137Tyr) c.3397C>T (p.His1133Tyr) | |
2 | g.144389678G>C | CA348699351 | ZEB2 | c.*3267C>G (n.*3267C>G) c.2641C>G (p.His881Asp) c.3418C>G (p.His1140Asp) c.3306C>G (p.Ser1102Arg) n.3387C>G c.3082C>G (p.His1028Asp) c.3493C>G (p.His1165Asp) c.*3135C>G (n.*3135C>G) n.3518C>G c.151+6734C>G (n.151+6734C>G) c.638C>G (n.638C>G) c.949C>G (p.His317Asp) c.3415C>G (p.His1139Asp) c.656-796C>G (n.656-796C>G) c.3346C>G (p.His1116Asp) c.3409C>G (p.His1137Asp) c.3397C>G (p.His1133Asp) | |
2 | g.144389678G>T | CA348699352 | ZEB2 | c.*3267C>A (n.*3267C>A) c.2641C>A (p.His881Asn) c.3418C>A (p.His1140Asn) c.3306C>A (p.Ser1102Arg) n.3387C>A c.3082C>A (p.His1028Asn) c.3493C>A (p.His1165Asn) c.*3135C>A (n.*3135C>A) n.3518C>A c.151+6734C>A (n.151+6734C>A) c.638C>A (n.638C>A) c.949C>A (p.His317Asn) c.3415C>A (p.His1139Asn) c.656-796C>A (n.656-796C>A) c.3346C>A (p.His1116Asn) c.3409C>A (p.His1137Asn) c.3397C>A (p.His1133Asn) | gnomAD v4 |
2 | g.144389679C>A | CA348699353 | ZEB2 | c.*3266G>T (n.*3266G>T) c.2640G>T (p.Glu880Asp) c.3417G>T (p.Glu1139Asp) c.3305G>T (p.Ser1102Ile) n.3386G>T c.3081G>T (p.Glu1027Asp) c.3492G>T (p.Glu1164Asp) c.*3134G>T (n.*3134G>T) n.3517G>T c.151+6733G>T (n.151+6733G>T) c.637G>T (n.637G>T) c.948G>T (p.Glu316Asp) c.3414G>T (p.Glu1138Asp) c.656-797G>T (n.656-797G>T) c.3345G>T (p.Glu1115Asp) c.3408G>T (p.Glu1136Asp) c.3396G>T (p.Glu1132Asp) | |
2 | g.144389679C= | CA1294881297 | ZEB2 | c.*3266G= (n.*3266G=) c.2640G= (p.Glu880=) c.3417G= (p.Glu1139=) c.3305G= (p.Ser1102=) n.3386G= c.3081G= (p.Glu1027=) c.3492G= (p.Glu1164=) c.*3134G= (n.*3134G=) n.3517G= c.151+6733G= (n.151+6733G=) c.637G= (n.637G=) c.948G= (p.Glu316=) c.3414G= (p.Glu1138=) c.656-797G= (n.656-797G=) c.3345G= (p.Glu1115=) c.3408G= (p.Glu1136=) c.3396G= (p.Glu1132=) | |
2 | g.144389679C>G | CA348699354 | ZEB2 | c.*3266G>C (n.*3266G>C) c.2640G>C (p.Glu880Asp) c.3417G>C (p.Glu1139Asp) c.3305G>C (p.Ser1102Thr) n.3386G>C c.3081G>C (p.Glu1027Asp) c.3492G>C (p.Glu1164Asp) c.*3134G>C (n.*3134G>C) n.3517G>C c.151+6733G>C (n.151+6733G>C) c.637G>C (n.637G>C) c.948G>C (p.Glu316Asp) c.3414G>C (p.Glu1138Asp) c.656-797G>C (n.656-797G>C) c.3345G>C (p.Glu1115Asp) c.3408G>C (p.Glu1136Asp) c.3396G>C (p.Glu1132Asp) | |
2 | g.144389679C>T | CA429441145 | ZEB2 | c.*3266G>A (n.*3266G>A) c.2640G>A (p.Glu880=) c.3417G>A (p.Glu1139=) c.3305G>A (p.Ser1102Asn) n.3386G>A c.3081G>A (p.Glu1027=) c.3492G>A (p.Glu1164=) c.*3134G>A (n.*3134G>A) n.3517G>A c.151+6733G>A (n.151+6733G>A) c.637G>A (n.637G>A) c.948G>A (p.Glu316=) c.3414G>A (p.Glu1138=) c.656-797G>A (n.656-797G>A) c.3345G>A (p.Glu1115=) c.3408G>A (p.Glu1136=) c.3396G>A (p.Glu1132=) | dbSNP gnomAD v4 |
2 | g.144389680T>A | CA348699355 | ZEB2 | c.*3265A>T (n.*3265A>T) c.2639A>T (p.Glu880Val) c.3416A>T (p.Glu1139Val) c.3304A>T (p.Ser1102Cys) n.3385A>T c.3080A>T (p.Glu1027Val) c.3491A>T (p.Glu1164Val) c.*3133A>T (n.*3133A>T) n.3516A>T c.151+6732A>T (n.151+6732A>T) c.636A>T (n.636A>T) c.947A>T (p.Glu316Val) c.3413A>T (p.Glu1138Val) c.656-798A>T (n.656-798A>T) c.3344A>T (p.Glu1115Val) c.3407A>T (p.Glu1136Val) c.3395A>T (p.Glu1132Val) | |
2 | g.144389680T>C | CA348699356 | ZEB2 | c.*3265A>G (n.*3265A>G) c.2639A>G (p.Glu880Gly) c.3416A>G (p.Glu1139Gly) c.3304A>G (p.Ser1102Gly) n.3385A>G c.3080A>G (p.Glu1027Gly) c.3491A>G (p.Glu1164Gly) c.*3133A>G (n.*3133A>G) n.3516A>G c.151+6732A>G (n.151+6732A>G) c.636A>G (n.636A>G) c.947A>G (p.Glu316Gly) c.3413A>G (p.Glu1138Gly) c.656-798A>G (n.656-798A>G) c.3344A>G (p.Glu1115Gly) c.3407A>G (p.Glu1136Gly) c.3395A>G (p.Glu1132Gly) | |
2 | g.144389680T>G | CA348699357 | ZEB2 | c.*3265A>C (n.*3265A>C) c.2639A>C (p.Glu880Ala) c.3416A>C (p.Glu1139Ala) c.3304A>C (p.Ser1102Arg) n.3385A>C c.3080A>C (p.Glu1027Ala) c.3491A>C (p.Glu1164Ala) c.*3133A>C (n.*3133A>C) n.3516A>C c.151+6732A>C (n.151+6732A>C) c.636A>C (n.636A>C) c.947A>C (p.Glu316Ala) c.3413A>C (p.Glu1138Ala) c.656-798A>C (n.656-798A>C) c.3344A>C (p.Glu1115Ala) c.3407A>C (p.Glu1136Ala) c.3395A>C (p.Glu1132Ala) | |
2 | g.144389681C>A | CA348699359 | ZEB2 | c.*3264G>T (n.*3264G>T) c.2638G>T (p.Glu880Ter) c.3415G>T (p.Glu1139Ter) c.3303G>T (p.Arg1101Ser) n.3384G>T c.3079G>T (p.Glu1027Ter) c.3490G>T (p.Glu1164Ter) c.*3132G>T (n.*3132G>T) n.3515G>T c.151+6731G>T (n.151+6731G>T) c.635G>T (n.635G>T) c.946G>T (p.Glu316Ter) c.3412G>T (p.Glu1138Ter) c.656-799G>T (n.656-799G>T) c.3343G>T (p.Glu1115Ter) c.3406G>T (p.Glu1136Ter) c.3394G>T (p.Glu1132Ter) | |
2 | g.144389681C>G | CA348699360 | ZEB2 | c.*3264G>C (n.*3264G>C) c.2638G>C (p.Glu880Gln) c.3415G>C (p.Glu1139Gln) c.3303G>C (p.Arg1101Ser) n.3384G>C c.3079G>C (p.Glu1027Gln) c.3490G>C (p.Glu1164Gln) c.*3132G>C (n.*3132G>C) n.3515G>C c.151+6731G>C (n.151+6731G>C) c.635G>C (n.635G>C) c.946G>C (p.Glu316Gln) c.3412G>C (p.Glu1138Gln) c.656-799G>C (n.656-799G>C) c.3343G>C (p.Glu1115Gln) c.3406G>C (p.Glu1136Gln) c.3394G>C (p.Glu1132Gln) | |
2 | g.144389681C>T | CA348699358 | ZEB2 | c.*3264G>A (n.*3264G>A) c.2638G>A (p.Glu880Lys) c.3415G>A (p.Glu1139Lys) c.3303G>A (p.Arg1101=) n.3384G>A c.3079G>A (p.Glu1027Lys) c.3490G>A (p.Glu1164Lys) c.*3132G>A (n.*3132G>A) n.3515G>A c.151+6731G>A (n.151+6731G>A) c.635G>A (n.635G>A) c.946G>A (p.Glu316Lys) c.3412G>A (p.Glu1138Lys) c.656-799G>A (n.656-799G>A) c.3343G>A (p.Glu1115Lys) c.3406G>A (p.Glu1136Lys) c.3394G>A (p.Glu1132Lys) | |
2 | g.144389682C>A | CA348699362 | ZEB2 | c.*3263G>T (n.*3263G>T) c.2637G>T (p.Lys879Asn) c.3414G>T (p.Lys1138Asn) c.3302G>T (p.Arg1101Met) n.3383G>T c.3078G>T (p.Lys1026Asn) c.3489G>T (p.Lys1163Asn) c.*3131G>T (n.*3131G>T) n.3514G>T c.151+6730G>T (n.151+6730G>T) c.634G>T (n.634G>T) c.945G>T (p.Lys315Asn) c.3411G>T (p.Lys1137Asn) c.656-800G>T (n.656-800G>T) c.3342G>T (p.Lys1114Asn) c.3405G>T (p.Lys1135Asn) c.3393G>T (p.Lys1131Asn) | |
2 | g.144389682C= | CA1294881298 | ZEB2 | c.*3263G= (n.*3263G=) c.2637G= (p.Lys879=) c.3414G= (p.Lys1138=) c.3302G= (p.Arg1101=) n.3383G= c.3078G= (p.Lys1026=) c.3489G= (p.Lys1163=) c.*3131G= (n.*3131G=) n.3514G= c.151+6730G= (n.151+6730G=) c.634G= (n.634G=) c.945G= (p.Lys315=) c.3411G= (p.Lys1137=) c.656-800G= (n.656-800G=) c.3342G= (p.Lys1114=) c.3405G= (p.Lys1135=) c.3393G= (p.Lys1131=) | |
2 | g.144389682C>G | CA348699361 | ZEB2 | c.*3263G>C (n.*3263G>C) c.2637G>C (p.Lys879Asn) c.3414G>C (p.Lys1138Asn) c.3302G>C (p.Arg1101Thr) n.3383G>C c.3078G>C (p.Lys1026Asn) c.3489G>C (p.Lys1163Asn) c.*3131G>C (n.*3131G>C) n.3514G>C c.151+6730G>C (n.151+6730G>C) c.634G>C (n.634G>C) c.945G>C (p.Lys315Asn) c.3411G>C (p.Lys1137Asn) c.656-800G>C (n.656-800G>C) c.3342G>C (p.Lys1114Asn) c.3405G>C (p.Lys1135Asn) c.3393G>C (p.Lys1131Asn) | |
2 | g.144389682C>T | CA1898120 | ZEB2 | c.*3263G>A (n.*3263G>A) c.2637G>A (p.Lys879=) c.3414G>A (p.Lys1138=) c.3302G>A (p.Arg1101Lys) n.3383G>A c.3078G>A (p.Lys1026=) c.3489G>A (p.Lys1163=) c.*3131G>A (n.*3131G>A) n.3514G>A c.151+6730G>A (n.151+6730G>A) c.634G>A (n.634G>A) c.945G>A (p.Lys315=) c.3411G>A (p.Lys1137=) c.656-800G>A (n.656-800G>A) c.3342G>A (p.Lys1114=) c.3405G>A (p.Lys1135=) c.3393G>A (p.Lys1131=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.144389684_144389686del | CA645536264 | ZEB2 | c.*3261_*3263del (n.*3261_*3263del) c.2635_2637del (p.Lys879del) c.3412_3414del (p.Lys1138del) c.3300_3302del (p.Arg1101del) n.3381_3383del c.3076_3078del (p.Lys1026del) c.3487_3489del (p.Lys1163del) c.*3129_*3131del (n.*3129_*3131del) n.3512_3514del c.151+6728_151+6730del (n.151+6728_151+6730del) c.632_634del (n.632_634del) c.943_945del (p.Lys315del) c.3409_3411del (p.Lys1137del) c.656-802_656-800del (n.656-802_656-800del) c.3340_3342del (p.Lys1114del) c.3403_3405del (p.Lys1135del) c.3391_3393del (p.Lys1131del) | COSMIC |
2 | g.144389683T>A | CA348699363 | ZEB2 | c.*3262A>T (n.*3262A>T) c.2636A>T (p.Lys879Met) c.3413A>T (p.Lys1138Met) c.3301A>T (p.Arg1101Trp) n.3382A>T c.3077A>T (p.Lys1026Met) c.3488A>T (p.Lys1163Met) c.*3130A>T (n.*3130A>T) n.3513A>T c.151+6729A>T (n.151+6729A>T) c.633A>T (n.633A>T) c.944A>T (p.Lys315Met) c.3410A>T (p.Lys1137Met) c.656-801A>T (n.656-801A>T) c.3341A>T (p.Lys1114Met) c.3404A>T (p.Lys1135Met) c.3392A>T (p.Lys1131Met) | |
2 | g.144389683T>C | CA348699364 | ZEB2 | c.*3262A>G (n.*3262A>G) c.2636A>G (p.Lys879Arg) c.3413A>G (p.Lys1138Arg) c.3301A>G (p.Arg1101Gly) n.3382A>G c.3077A>G (p.Lys1026Arg) c.3488A>G (p.Lys1163Arg) c.*3130A>G (n.*3130A>G) n.3513A>G c.151+6729A>G (n.151+6729A>G) c.633A>G (n.633A>G) c.944A>G (p.Lys315Arg) c.3410A>G (p.Lys1137Arg) c.656-801A>G (n.656-801A>G) c.3341A>G (p.Lys1114Arg) c.3404A>G (p.Lys1135Arg) c.3392A>G (p.Lys1131Arg) | gnomAD v4 |
2 | g.144389683T>G | CA348699365 | ZEB2 | c.*3262A>C (n.*3262A>C) c.2636A>C (p.Lys879Thr) c.3413A>C (p.Lys1138Thr) c.3301A>C (p.Arg1101=) n.3382A>C c.3077A>C (p.Lys1026Thr) c.3488A>C (p.Lys1163Thr) c.*3130A>C (n.*3130A>C) n.3513A>C c.151+6729A>C (n.151+6729A>C) c.633A>C (n.633A>C) c.944A>C (p.Lys315Thr) c.3410A>C (p.Lys1137Thr) c.656-801A>C (n.656-801A>C) c.3341A>C (p.Lys1114Thr) c.3404A>C (p.Lys1135Thr) c.3392A>C (p.Lys1131Thr) | |
2 | g.144389684T>A | CA348699366 | ZEB2 | c.*3261A>T (n.*3261A>T) c.2635A>T (p.Lys879Ter) c.3412A>T (p.Lys1138Ter) c.3300A>T (p.Arg1100Ser) n.3381A>T c.3076A>T (p.Lys1026Ter) c.3487A>T (p.Lys1163Ter) c.*3129A>T (n.*3129A>T) n.3512A>T c.151+6728A>T (n.151+6728A>T) c.632A>T (n.632A>T) c.943A>T (p.Lys315Ter) c.3409A>T (p.Lys1137Ter) c.656-802A>T (n.656-802A>T) c.3340A>T (p.Lys1114Ter) c.3403A>T (p.Lys1135Ter) c.3391A>T (p.Lys1131Ter) | |
2 | g.144389684T>C | CA348699367 | ZEB2 | c.*3261A>G (n.*3261A>G) c.2635A>G (p.Lys879Glu) c.3412A>G (p.Lys1138Glu) c.3300A>G (p.Arg1100=) n.3381A>G c.3076A>G (p.Lys1026Glu) c.3487A>G (p.Lys1163Glu) c.*3129A>G (n.*3129A>G) n.3512A>G c.151+6728A>G (n.151+6728A>G) c.632A>G (n.632A>G) c.943A>G (p.Lys315Glu) c.3409A>G (p.Lys1137Glu) c.656-802A>G (n.656-802A>G) c.3340A>G (p.Lys1114Glu) c.3403A>G (p.Lys1135Glu) c.3391A>G (p.Lys1131Glu) | |
2 | g.144389684T>G | CA348699368 | ZEB2 | c.*3261A>C (n.*3261A>C) c.2635A>C (p.Lys879Gln) c.3412A>C (p.Lys1138Gln) c.3300A>C (p.Arg1100Ser) n.3381A>C c.3076A>C (p.Lys1026Gln) c.3487A>C (p.Lys1163Gln) c.*3129A>C (n.*3129A>C) n.3512A>C c.151+6728A>C (n.151+6728A>C) c.632A>C (n.632A>C) c.943A>C (p.Lys315Gln) c.3409A>C (p.Lys1137Gln) c.656-802A>C (n.656-802A>C) c.3340A>C (p.Lys1114Gln) c.3403A>C (p.Lys1135Gln) c.3391A>C (p.Lys1131Gln) | |
2 | g.144389685C>A | CA348699369 | ZEB2 | c.*3260G>T (n.*3260G>T) c.2634G>T (p.Glu878Asp) c.3411G>T (p.Glu1137Asp) c.3299G>T (p.Arg1100Ile) n.3380G>T c.3075G>T (p.Glu1025Asp) c.3486G>T (p.Glu1162Asp) c.*3128G>T (n.*3128G>T) n.3511G>T c.151+6727G>T (n.151+6727G>T) c.631G>T (n.631G>T) c.942G>T (p.Glu314Asp) c.3408G>T (p.Glu1136Asp) c.656-803G>T (n.656-803G>T) c.3339G>T (p.Glu1113Asp) c.3402G>T (p.Glu1134Asp) c.3390G>T (p.Glu1130Asp) | |
2 | g.144389685C>G | CA348699370 | ZEB2 | c.*3260G>C (n.*3260G>C) c.2634G>C (p.Glu878Asp) c.3411G>C (p.Glu1137Asp) c.3299G>C (p.Arg1100Thr) n.3380G>C c.3075G>C (p.Glu1025Asp) c.3486G>C (p.Glu1162Asp) c.*3128G>C (n.*3128G>C) n.3511G>C c.151+6727G>C (n.151+6727G>C) c.631G>C (n.631G>C) c.942G>C (p.Glu314Asp) c.3408G>C (p.Glu1136Asp) c.656-803G>C (n.656-803G>C) c.3339G>C (p.Glu1113Asp) c.3402G>C (p.Glu1134Asp) c.3390G>C (p.Glu1130Asp) | |
2 | g.144389685C>T | CA429441147 | ZEB2 | c.*3260G>A (n.*3260G>A) c.2634G>A (p.Glu878=) c.3411G>A (p.Glu1137=) c.3299G>A (p.Arg1100Lys) n.3380G>A c.3075G>A (p.Glu1025=) c.3486G>A (p.Glu1162=) c.*3128G>A (n.*3128G>A) n.3511G>A c.151+6727G>A (n.151+6727G>A) c.631G>A (n.631G>A) c.942G>A (p.Glu314=) c.3408G>A (p.Glu1136=) c.656-803G>A (n.656-803G>A) c.3339G>A (p.Glu1113=) c.3402G>A (p.Glu1134=) c.3390G>A (p.Glu1130=) | |
2 | g.144389686T>A | CA348699371 | ZEB2 | c.*3259A>T (n.*3259A>T) c.2633A>T (p.Glu878Val) c.3410A>T (p.Glu1137Val) c.3298A>T (p.Arg1100Ter) n.3379A>T c.3074A>T (p.Glu1025Val) c.3485A>T (p.Glu1162Val) c.*3127A>T (n.*3127A>T) n.3510A>T c.151+6726A>T (n.151+6726A>T) c.630A>T (n.630A>T) c.941A>T (p.Glu314Val) c.3407A>T (p.Glu1136Val) c.656-804A>T (n.656-804A>T) c.3338A>T (p.Glu1113Val) c.3401A>T (p.Glu1134Val) c.3389A>T (p.Glu1130Val) | |
2 | g.144389686T>C | CA348699372 | ZEB2 | c.*3259A>G (n.*3259A>G) c.2633A>G (p.Glu878Gly) c.3410A>G (p.Glu1137Gly) c.3298A>G (p.Arg1100Gly) n.3379A>G c.3074A>G (p.Glu1025Gly) c.3485A>G (p.Glu1162Gly) c.*3127A>G (n.*3127A>G) n.3510A>G c.151+6726A>G (n.151+6726A>G) c.630A>G (n.630A>G) c.941A>G (p.Glu314Gly) c.3407A>G (p.Glu1136Gly) c.656-804A>G (n.656-804A>G) c.3338A>G (p.Glu1113Gly) c.3401A>G (p.Glu1134Gly) c.3389A>G (p.Glu1130Gly) | ClinVar gnomAD v4 |
2 | g.144389686T>G | CA348699373 | ZEB2 | c.*3259A>C (n.*3259A>C) c.2633A>C (p.Glu878Ala) c.3410A>C (p.Glu1137Ala) c.3298A>C (p.Arg1100=) n.3379A>C c.3074A>C (p.Glu1025Ala) c.3485A>C (p.Glu1162Ala) c.*3127A>C (n.*3127A>C) n.3510A>C c.151+6726A>C (n.151+6726A>C) c.630A>C (n.630A>C) c.941A>C (p.Glu314Ala) c.3407A>C (p.Glu1136Ala) c.656-804A>C (n.656-804A>C) c.3338A>C (p.Glu1113Ala) c.3401A>C (p.Glu1134Ala) c.3389A>C (p.Glu1130Ala) | |
2 | g.144389687C>A | CA348699374 | ZEB2 | c.*3258G>T (n.*3258G>T) c.2632G>T (p.Glu878Ter) c.3409G>T (p.Glu1137Ter) c.3297G>T (p.Ala1099=) n.3378G>T c.3073G>T (p.Glu1025Ter) c.3484G>T (p.Glu1162Ter) c.*3126G>T (n.*3126G>T) n.3509G>T c.151+6725G>T (n.151+6725G>T) c.629G>T (n.629G>T) c.940G>T (p.Glu314Ter) c.3406G>T (p.Glu1136Ter) c.656-805G>T (n.656-805G>T) c.3337G>T (p.Glu1113Ter) c.3400G>T (p.Glu1134Ter) c.3388G>T (p.Glu1130Ter) | |
2 | g.144389687C= | CA1294881299 | ZEB2 | c.*3258G= (n.*3258G=) c.2632G= (p.Glu878=) c.3409G= (p.Glu1137=) c.3297G= (p.Ala1099=) n.3378G= c.3073G= (p.Glu1025=) c.3484G= (p.Glu1162=) c.*3126G= (n.*3126G=) n.3509G= c.151+6725G= (n.151+6725G=) c.629G= (n.629G=) c.940G= (p.Glu314=) c.3406G= (p.Glu1136=) c.656-805G= (n.656-805G=) c.3337G= (p.Glu1113=) c.3400G= (p.Glu1134=) c.3388G= (p.Glu1130=) | |
2 | g.144389687C>G | CA348699375 | ZEB2 | c.*3258G>C (n.*3258G>C) c.2632G>C (p.Glu878Gln) c.3409G>C (p.Glu1137Gln) c.3297G>C (p.Ala1099=) n.3378G>C c.3073G>C (p.Glu1025Gln) c.3484G>C (p.Glu1162Gln) c.*3126G>C (n.*3126G>C) n.3509G>C c.151+6725G>C (n.151+6725G>C) c.629G>C (n.629G>C) c.940G>C (p.Glu314Gln) c.3406G>C (p.Glu1136Gln) c.656-805G>C (n.656-805G>C) c.3337G>C (p.Glu1113Gln) c.3400G>C (p.Glu1134Gln) c.3388G>C (p.Glu1130Gln) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
2 | g.144389687C>T | CA297623 | ZEB2 | c.*3258G>A (n.*3258G>A) c.2632G>A (p.Glu878Lys) c.3409G>A (p.Glu1137Lys) c.3297G>A (p.Ala1099=) n.3378G>A c.3073G>A (p.Glu1025Lys) c.3484G>A (p.Glu1162Lys) c.*3126G>A (n.*3126G>A) n.3509G>A c.151+6725G>A (n.151+6725G>A) c.629G>A (n.629G>A) c.940G>A (p.Glu314Lys) c.3406G>A (p.Glu1136Lys) c.656-805G>A (n.656-805G>A) c.3337G>A (p.Glu1113Lys) c.3400G>A (p.Glu1134Lys) c.3388G>A (p.Glu1130Lys) | ClinVar dbSNP gnomAD v4 |
2 | g.144389688G>A | CA429441148 | ZEB2 | c.*3257C>T (n.*3257C>T) c.2631C>T (p.Ser877=) c.3408C>T (p.Ser1136=) c.3296C>T (p.Ala1099Val) n.3377C>T c.3072C>T (p.Ser1024=) c.3483C>T (p.Ser1161=) c.*3125C>T (n.*3125C>T) n.3508C>T c.151+6724C>T (n.151+6724C>T) c.628C>T (n.628C>T) c.939C>T (p.Ser313=) c.3405C>T (p.Ser1135=) c.656-806C>T (n.656-806C>T) c.3336C>T (p.Ser1112=) c.3399C>T (p.Ser1133=) c.3387C>T (p.Ser1129=) | COSMIC |
2 | g.144389688G>C | CA16610248 | ZEB2 | c.*3257C>G (n.*3257C>G) c.2631C>G (p.Ser877Arg) c.3408C>G (p.Ser1136Arg) c.3296C>G (p.Ala1099Gly) n.3377C>G c.3072C>G (p.Ser1024Arg) c.3483C>G (p.Ser1161Arg) c.*3125C>G (n.*3125C>G) n.3508C>G c.151+6724C>G (n.151+6724C>G) c.628C>G (n.628C>G) c.939C>G (p.Ser313Arg) c.3405C>G (p.Ser1135Arg) c.656-806C>G (n.656-806C>G) c.3336C>G (p.Ser1112Arg) c.3399C>G (p.Ser1133Arg) c.3387C>G (p.Ser1129Arg) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.144389688G= | CA1294881300 | ZEB2 | c.*3257C= (n.*3257C=) c.2631C= (p.Ser877=) c.3408C= (p.Ser1136=) c.3296C= (p.Ala1099=) n.3377C= c.3072C= (p.Ser1024=) c.3483C= (p.Ser1161=) c.*3125C= (n.*3125C=) n.3508C= c.151+6724C= (n.151+6724C=) c.628C= (n.628C=) c.939C= (p.Ser313=) c.3405C= (p.Ser1135=) c.656-806C= (n.656-806C=) c.3336C= (p.Ser1112=) c.3399C= (p.Ser1133=) c.3387C= (p.Ser1129=) | |
2 | g.144389688G>T | CA348699376 | ZEB2 | c.*3257C>A (n.*3257C>A) c.2631C>A (p.Ser877Arg) c.3408C>A (p.Ser1136Arg) c.3296C>A (p.Ala1099Glu) n.3377C>A c.3072C>A (p.Ser1024Arg) c.3483C>A (p.Ser1161Arg) c.*3125C>A (n.*3125C>A) n.3508C>A c.151+6724C>A (n.151+6724C>A) c.628C>A (n.628C>A) c.939C>A (p.Ser313Arg) c.3405C>A (p.Ser1135Arg) c.656-806C>A (n.656-806C>A) c.3336C>A (p.Ser1112Arg) c.3399C>A (p.Ser1133Arg) c.3387C>A (p.Ser1129Arg) | |
2 | g.144389689C>A | CA348699377 | ZEB2 | c.*3256G>T (n.*3256G>T) c.2630G>T (p.Ser877Ile) c.3407G>T (p.Ser1136Ile) c.3295G>T (p.Ala1099Ser) n.3376G>T c.3071G>T (p.Ser1024Ile) c.3482G>T (p.Ser1161Ile) c.*3124G>T (n.*3124G>T) n.3507G>T c.151+6723G>T (n.151+6723G>T) c.627G>T (n.627G>T) c.938G>T (p.Ser313Ile) c.3404G>T (p.Ser1135Ile) c.656-807G>T (n.656-807G>T) c.3335G>T (p.Ser1112Ile) c.3398G>T (p.Ser1133Ile) c.3386G>T (p.Ser1129Ile) | |
2 | g.144389689C>G | CA348699378 | ZEB2 | c.*3256G>C (n.*3256G>C) c.2630G>C (p.Ser877Thr) c.3407G>C (p.Ser1136Thr) c.3295G>C (p.Ala1099Pro) n.3376G>C c.3071G>C (p.Ser1024Thr) c.3482G>C (p.Ser1161Thr) c.*3124G>C (n.*3124G>C) n.3507G>C c.151+6723G>C (n.151+6723G>C) c.627G>C (n.627G>C) c.938G>C (p.Ser313Thr) c.3404G>C (p.Ser1135Thr) c.656-807G>C (n.656-807G>C) c.3335G>C (p.Ser1112Thr) c.3398G>C (p.Ser1133Thr) c.3386G>C (p.Ser1129Thr) | |
2 | g.144389689C>T | CA348699379 | ZEB2 | c.*3256G>A (n.*3256G>A) c.2630G>A (p.Ser877Asn) c.3407G>A (p.Ser1136Asn) c.3295G>A (p.Ala1099Thr) n.3376G>A c.3071G>A (p.Ser1024Asn) c.3482G>A (p.Ser1161Asn) c.*3124G>A (n.*3124G>A) n.3507G>A c.151+6723G>A (n.151+6723G>A) c.627G>A (n.627G>A) c.938G>A (p.Ser313Asn) c.3404G>A (p.Ser1135Asn) c.656-807G>A (n.656-807G>A) c.3335G>A (p.Ser1112Asn) c.3398G>A (p.Ser1133Asn) c.3386G>A (p.Ser1129Asn) | |
2 | g.144389690T>A | CA348699380 | ZEB2 | c.*3255A>T (n.*3255A>T) c.2629A>T (p.Ser877Cys) c.3406A>T (p.Ser1136Cys) c.3294A>T (p.Arg1098Ser) n.3375A>T c.3070A>T (p.Ser1024Cys) c.3481A>T (p.Ser1161Cys) c.*3123A>T (n.*3123A>T) n.3506A>T c.151+6722A>T (n.151+6722A>T) c.626A>T (n.626A>T) c.937A>T (p.Ser313Cys) c.3403A>T (p.Ser1135Cys) c.656-808A>T (n.656-808A>T) c.3334A>T (p.Ser1112Cys) c.3397A>T (p.Ser1133Cys) c.3385A>T (p.Ser1129Cys) | |
2 | g.144389690T>C | CA348699381 | ZEB2 | c.*3255A>G (n.*3255A>G) c.2629A>G (p.Ser877Gly) c.3406A>G (p.Ser1136Gly) c.3294A>G (p.Arg1098=) n.3375A>G c.3070A>G (p.Ser1024Gly) c.3481A>G (p.Ser1161Gly) c.*3123A>G (n.*3123A>G) n.3506A>G c.151+6722A>G (n.151+6722A>G) c.626A>G (n.626A>G) c.937A>G (p.Ser313Gly) c.3403A>G (p.Ser1135Gly) c.656-808A>G (n.656-808A>G) c.3334A>G (p.Ser1112Gly) c.3397A>G (p.Ser1133Gly) c.3385A>G (p.Ser1129Gly) | |
2 | g.144389690T>G | CA348699382 | ZEB2 | c.*3255A>C (n.*3255A>C) c.2629A>C (p.Ser877Arg) c.3406A>C (p.Ser1136Arg) c.3294A>C (p.Arg1098Ser) n.3375A>C c.3070A>C (p.Ser1024Arg) c.3481A>C (p.Ser1161Arg) c.*3123A>C (n.*3123A>C) n.3506A>C c.151+6722A>C (n.151+6722A>C) c.626A>C (n.626A>C) c.937A>C (p.Ser313Arg) c.3403A>C (p.Ser1135Arg) c.656-808A>C (n.656-808A>C) c.3334A>C (p.Ser1112Arg) c.3397A>C (p.Ser1133Arg) c.3385A>C (p.Ser1129Arg) | |
2 | g.144389691C>A | CA348699383 | ZEB2 | c.*3254G>T (n.*3254G>T) c.2628G>T (p.Glu876Asp) c.3405G>T (p.Glu1135Asp) c.3293G>T (p.Arg1098Ile) n.3374G>T c.3069G>T (p.Glu1023Asp) c.3480G>T (p.Glu1160Asp) c.*3122G>T (n.*3122G>T) n.3505G>T c.151+6721G>T (n.151+6721G>T) c.625G>T (n.625G>T) c.936G>T (p.Glu312Asp) c.3402G>T (p.Glu1134Asp) c.656-809G>T (n.656-809G>T) c.3333G>T (p.Glu1111Asp) c.3396G>T (p.Glu1132Asp) c.3384G>T (p.Glu1128Asp) | gnomAD v4 |
2 | g.144389691C= | CA1294881301 | ZEB2 | c.*3254G= (n.*3254G=) c.2628G= (p.Glu876=) c.3405G= (p.Glu1135=) c.3293G= (p.Arg1098=) n.3374G= c.3069G= (p.Glu1023=) c.3480G= (p.Glu1160=) c.*3122G= (n.*3122G=) n.3505G= c.151+6721G= (n.151+6721G=) c.625G= (n.625G=) c.936G= (p.Glu312=) c.3402G= (p.Glu1134=) c.656-809G= (n.656-809G=) c.3333G= (p.Glu1111=) c.3396G= (p.Glu1132=) c.3384G= (p.Glu1128=) | |
2 | g.144389691C>G | CA348699384 | ZEB2 | c.*3254G>C (n.*3254G>C) c.2628G>C (p.Glu876Asp) c.3405G>C (p.Glu1135Asp) c.3293G>C (p.Arg1098Thr) n.3374G>C c.3069G>C (p.Glu1023Asp) c.3480G>C (p.Glu1160Asp) c.*3122G>C (n.*3122G>C) n.3505G>C c.151+6721G>C (n.151+6721G>C) c.625G>C (n.625G>C) c.936G>C (p.Glu312Asp) c.3402G>C (p.Glu1134Asp) c.656-809G>C (n.656-809G>C) c.3333G>C (p.Glu1111Asp) c.3396G>C (p.Glu1132Asp) c.3384G>C (p.Glu1128Asp) | dbSNP |
2 | g.144389691C>T | CA429441149 | ZEB2 | c.*3254G>A (n.*3254G>A) c.2628G>A (p.Glu876=) c.3405G>A (p.Glu1135=) c.3293G>A (p.Arg1098Lys) n.3374G>A c.3069G>A (p.Glu1023=) c.3480G>A (p.Glu1160=) c.*3122G>A (n.*3122G>A) n.3505G>A c.151+6721G>A (n.151+6721G>A) c.625G>A (n.625G>A) c.936G>A (p.Glu312=) c.3402G>A (p.Glu1134=) c.656-809G>A (n.656-809G>A) c.3333G>A (p.Glu1111=) c.3396G>A (p.Glu1132=) c.3384G>A (p.Glu1128=) | gnomAD v4 |
2 | g.144389692T>A | CA348699386 | ZEB2 | c.*3253A>T (n.*3253A>T) c.2627A>T (p.Glu876Val) c.3404A>T (p.Glu1135Val) c.3292A>T (p.Arg1098Ter) n.3373A>T c.3068A>T (p.Glu1023Val) c.3479A>T (p.Glu1160Val) c.*3121A>T (n.*3121A>T) n.3504A>T c.151+6720A>T (n.151+6720A>T) c.624A>T (n.624A>T) c.935A>T (p.Glu312Val) c.3401A>T (p.Glu1134Val) c.656-810A>T (n.656-810A>T) c.3332A>T (p.Glu1111Val) c.3395A>T (p.Glu1132Val) c.3383A>T (p.Glu1128Val) | |
2 | g.144389692T>C | CA348699387 | ZEB2 | c.*3253A>G (n.*3253A>G) c.2627A>G (p.Glu876Gly) c.3404A>G (p.Glu1135Gly) c.3292A>G (p.Arg1098Gly) n.3373A>G c.3068A>G (p.Glu1023Gly) c.3479A>G (p.Glu1160Gly) c.*3121A>G (n.*3121A>G) n.3504A>G c.151+6720A>G (n.151+6720A>G) c.624A>G (n.624A>G) c.935A>G (p.Glu312Gly) c.3401A>G (p.Glu1134Gly) c.656-810A>G (n.656-810A>G) c.3332A>G (p.Glu1111Gly) c.3395A>G (p.Glu1132Gly) c.3383A>G (p.Glu1128Gly) | |
2 | g.144389692T>G | CA348699385 | ZEB2 | c.*3253A>C (n.*3253A>C) c.2627A>C (p.Glu876Ala) c.3404A>C (p.Glu1135Ala) c.3292A>C (p.Arg1098=) n.3373A>C c.3068A>C (p.Glu1023Ala) c.3479A>C (p.Glu1160Ala) c.*3121A>C (n.*3121A>C) n.3504A>C c.151+6720A>C (n.151+6720A>C) c.624A>C (n.624A>C) c.935A>C (p.Glu312Ala) c.3401A>C (p.Glu1134Ala) c.656-810A>C (n.656-810A>C) c.3332A>C (p.Glu1111Ala) c.3395A>C (p.Glu1132Ala) c.3383A>C (p.Glu1128Ala) | |
2 | g.144389693C>A | CA348699388 | ZEB2 | c.*3252G>T (n.*3252G>T) c.2626G>T (p.Glu876Ter) c.3403G>T (p.Glu1135Ter) c.3291G>T (p.Ala1097=) n.3372G>T c.3067G>T (p.Glu1023Ter) c.3478G>T (p.Glu1160Ter) c.*3120G>T (n.*3120G>T) n.3503G>T c.151+6719G>T (n.151+6719G>T) c.623G>T (n.623G>T) c.934G>T (p.Glu312Ter) c.3400G>T (p.Glu1134Ter) c.656-811G>T (n.656-811G>T) c.3331G>T (p.Glu1111Ter) c.3394G>T (p.Glu1132Ter) c.3382G>T (p.Glu1128Ter) | |
2 | g.144389693C>G | CA348699389 | ZEB2 | c.*3252G>C (n.*3252G>C) c.2626G>C (p.Glu876Gln) c.3403G>C (p.Glu1135Gln) c.3291G>C (p.Ala1097=) n.3372G>C c.3067G>C (p.Glu1023Gln) c.3478G>C (p.Glu1160Gln) c.*3120G>C (n.*3120G>C) n.3503G>C c.151+6719G>C (n.151+6719G>C) c.623G>C (n.623G>C) c.934G>C (p.Glu312Gln) c.3400G>C (p.Glu1134Gln) c.656-811G>C (n.656-811G>C) c.3331G>C (p.Glu1111Gln) c.3394G>C (p.Glu1132Gln) c.3382G>C (p.Glu1128Gln) | |
2 | g.144389693C>T | CA348699390 | ZEB2 | c.*3252G>A (n.*3252G>A) c.2626G>A (p.Glu876Lys) c.3403G>A (p.Glu1135Lys) c.3291G>A (p.Ala1097=) n.3372G>A c.3067G>A (p.Glu1023Lys) c.3478G>A (p.Glu1160Lys) c.*3120G>A (n.*3120G>A) n.3503G>A c.151+6719G>A (n.151+6719G>A) c.623G>A (n.623G>A) c.934G>A (p.Glu312Lys) c.3400G>A (p.Glu1134Lys) c.656-811G>A (n.656-811G>A) c.3331G>A (p.Glu1111Lys) c.3394G>A (p.Glu1132Lys) c.3382G>A (p.Glu1128Lys) | COSMIC |
2 | g.144389694G>A | CA429441151 | ZEB2 | c.*3251C>T (n.*3251C>T) c.2625C>T (p.Gly875=) c.3402C>T (p.Gly1134=) c.3290C>T (p.Ala1097Val) n.3371C>T c.3066C>T (p.Gly1022=) c.3477C>T (p.Gly1159=) c.*3119C>T (n.*3119C>T) n.3502C>T c.151+6718C>T (n.151+6718C>T) c.622C>T (n.622C>T) c.933C>T (p.Gly311=) c.3399C>T (p.Gly1133=) c.656-812C>T (n.656-812C>T) c.3330C>T (p.Gly1110=) c.3393C>T (p.Gly1131=) c.3381C>T (p.Gly1127=) | ClinVar |
2 | g.144389694G>C | CA429441152 | ZEB2 | c.*3251C>G (n.*3251C>G) c.2625C>G (p.Gly875=) c.3402C>G (p.Gly1134=) c.3290C>G (p.Ala1097Gly) n.3371C>G c.3066C>G (p.Gly1022=) c.3477C>G (p.Gly1159=) c.*3119C>G (n.*3119C>G) n.3502C>G c.151+6718C>G (n.151+6718C>G) c.622C>G (n.622C>G) c.933C>G (p.Gly311=) c.3399C>G (p.Gly1133=) c.656-812C>G (n.656-812C>G) c.3330C>G (p.Gly1110=) c.3393C>G (p.Gly1131=) c.3381C>G (p.Gly1127=) | |
2 | g.144389694G= | CA1294881302 | ZEB2 | c.*3251C= (n.*3251C=) c.2625C= (p.Gly875=) c.3402C= (p.Gly1134=) c.3290C= (p.Ala1097=) n.3371C= c.3066C= (p.Gly1022=) c.3477C= (p.Gly1159=) c.*3119C= (n.*3119C=) n.3502C= c.151+6718C= (n.151+6718C=) c.622C= (n.622C=) c.933C= (p.Gly311=) c.3399C= (p.Gly1133=) c.656-812C= (n.656-812C=) c.3330C= (p.Gly1110=) c.3393C= (p.Gly1131=) c.3381C= (p.Gly1127=) | |
2 | g.144389694G>T | CA1898121 | ZEB2 | c.*3251C>A (n.*3251C>A) c.2625C>A (p.Gly875=) c.3402C>A (p.Gly1134=) c.3290C>A (p.Ala1097Glu) n.3371C>A c.3066C>A (p.Gly1022=) c.3477C>A (p.Gly1159=) c.*3119C>A (n.*3119C>A) n.3502C>A c.151+6718C>A (n.151+6718C>A) c.622C>A (n.622C>A) c.933C>A (p.Gly311=) c.3399C>A (p.Gly1133=) c.656-812C>A (n.656-812C>A) c.3330C>A (p.Gly1110=) c.3393C>A (p.Gly1131=) c.3381C>A (p.Gly1127=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.144389695C>A | CA348699391 | ZEB2 | c.*3250G>T (n.*3250G>T) c.2624G>T (p.Gly875Val) c.3401G>T (p.Gly1134Val) c.3289G>T (p.Ala1097Ser) n.3370G>T c.3065G>T (p.Gly1022Val) c.3476G>T (p.Gly1159Val) c.*3118G>T (n.*3118G>T) n.3501G>T c.151+6717G>T (n.151+6717G>T) c.621G>T (n.621G>T) c.932G>T (p.Gly311Val) c.3398G>T (p.Gly1133Val) c.656-813G>T (n.656-813G>T) c.3329G>T (p.Gly1110Val) c.3392G>T (p.Gly1131Val) c.3380G>T (p.Gly1127Val) | |
2 | g.144389695C>G | CA348699392 | ZEB2 | c.*3250G>C (n.*3250G>C) c.2624G>C (p.Gly875Ala) c.3401G>C (p.Gly1134Ala) c.3289G>C (p.Ala1097Pro) n.3370G>C c.3065G>C (p.Gly1022Ala) c.3476G>C (p.Gly1159Ala) c.*3118G>C (n.*3118G>C) n.3501G>C c.151+6717G>C (n.151+6717G>C) c.621G>C (n.621G>C) c.932G>C (p.Gly311Ala) c.3398G>C (p.Gly1133Ala) c.656-813G>C (n.656-813G>C) c.3329G>C (p.Gly1110Ala) c.3392G>C (p.Gly1131Ala) c.3380G>C (p.Gly1127Ala) | |
2 | g.144389695C>T | CA348699393 | ZEB2 | c.*3250G>A (n.*3250G>A) c.2624G>A (p.Gly875Asp) c.3401G>A (p.Gly1134Asp) c.3289G>A (p.Ala1097Thr) n.3370G>A c.3065G>A (p.Gly1022Asp) c.3476G>A (p.Gly1159Asp) c.*3118G>A (n.*3118G>A) n.3501G>A c.151+6717G>A (n.151+6717G>A) c.621G>A (n.621G>A) c.932G>A (p.Gly311Asp) c.3398G>A (p.Gly1133Asp) c.656-813G>A (n.656-813G>A) c.3329G>A (p.Gly1110Asp) c.3392G>A (p.Gly1131Asp) c.3380G>A (p.Gly1127Asp) | gnomAD v4 |
2 | g.144389695_144389705delinsCCATCCCTCGG | CA1294881303 | ZEB2 | c.*3240_*3250delinsCCGAGGGATGG (n.*3240_*3250delinsCCGAGGGATGG) c.2614_2624delinsCCGAGGGATGG (p.Pro872=) c.3391_3401delinsCCGAGGGATGG (p.Pro1131=) c.3279_3289delinsCCGAGGGATGG (p.Cys1093=) n.3360_3370delinsCCGAGGGATGG c.3055_3065delinsCCGAGGGATGG (p.Pro1019=) c.3466_3476delinsCCGAGGGATGG (p.Pro1156=) c.*3108_*3118delinsCCGAGGGATGG (n.*3108_*3118delinsCCGAGGGATGG) n.3491_3501delinsCCGAGGGATGG c.151+6707_151+6717delinsCCGAGGGATGG (n.151+6707_151+6717delinsCCGAGGGATGG) c.611_621delinsCCGAGGGATGG (n.611_621delinsCCGAGGGATGG) c.922_932delinsCCGAGGGATGG (p.Pro308=) c.3388_3398delinsCCGAGGGATGG (p.Pro1130=) c.656-823_656-813delinsCCGAGGGATGG (n.656-823_656-813delinsCCGAGGGATGG) c.3319_3329delinsCCGAGGGATGG (p.Pro1107=) c.3382_3392delinsCCGAGGGATGG (p.Pro1128=) c.3370_3380delinsCCGAGGGATGG (p.Pro1124=) | |
2 | g.144389696C>A | CA348699394 | ZEB2 | c.*3249G>T (n.*3249G>T) c.2623G>T (p.Gly875Cys) c.3400G>T (p.Gly1134Cys) c.3288G>T (p.Met1096Ile) n.3369G>T c.3064G>T (p.Gly1022Cys) c.3475G>T (p.Gly1159Cys) c.*3117G>T (n.*3117G>T) n.3500G>T c.151+6716G>T (n.151+6716G>T) c.620G>T (n.620G>T) c.931G>T (p.Gly311Cys) c.3397G>T (p.Gly1133Cys) c.656-814G>T (n.656-814G>T) c.3328G>T (p.Gly1110Cys) c.3391G>T (p.Gly1131Cys) c.3379G>T (p.Gly1127Cys) | |
2 | g.144389696C= | CA1294881304 | ZEB2 | c.*3249G= (n.*3249G=) c.2623G= (p.Gly875=) c.3400G= (p.Gly1134=) c.3288G= (p.Met1096=) n.3369G= c.3064G= (p.Gly1022=) c.3475G= (p.Gly1159=) c.*3117G= (n.*3117G=) n.3500G= c.151+6716G= (n.151+6716G=) c.620G= (n.620G=) c.931G= (p.Gly311=) c.3397G= (p.Gly1133=) c.656-814G= (n.656-814G=) c.3328G= (p.Gly1110=) c.3391G= (p.Gly1131=) c.3379G= (p.Gly1127=) | |
2 | g.144389696C>G | CA348699395 | ZEB2 | c.*3249G>C (n.*3249G>C) c.2623G>C (p.Gly875Arg) c.3400G>C (p.Gly1134Arg) c.3288G>C (p.Met1096Ile) n.3369G>C c.3064G>C (p.Gly1022Arg) c.3475G>C (p.Gly1159Arg) c.*3117G>C (n.*3117G>C) n.3500G>C c.151+6716G>C (n.151+6716G>C) c.620G>C (n.620G>C) c.931G>C (p.Gly311Arg) c.3397G>C (p.Gly1133Arg) c.656-814G>C (n.656-814G>C) c.3328G>C (p.Gly1110Arg) c.3391G>C (p.Gly1131Arg) c.3379G>C (p.Gly1127Arg) | |
2 | g.144389696C>T | CA348699396 | ZEB2 | c.*3249G>A (n.*3249G>A) c.2623G>A (p.Gly875Ser) c.3400G>A (p.Gly1134Ser) c.3288G>A (p.Met1096Ile) n.3369G>A c.3064G>A (p.Gly1022Ser) c.3475G>A (p.Gly1159Ser) c.*3117G>A (n.*3117G>A) n.3500G>A c.151+6716G>A (n.151+6716G>A) c.620G>A (n.620G>A) c.931G>A (p.Gly311Ser) c.3397G>A (p.Gly1133Ser) c.656-814G>A (n.656-814G>A) c.3328G>A (p.Gly1110Ser) c.3391G>A (p.Gly1131Ser) c.3379G>A (p.Gly1127Ser) | ClinVar dbSNP |
2 | g.144389699_144389708del | CA274525 | ZEB2 | c.*3240_*3249del (n.*3240_*3249del) c.2614_2623del (p.Pro872AlafsTer?) c.3391_3400del (p.Pro1131AlafsTer?) c.3279_3288del (p.Cys1093TrpfsTer?) n.3360_3369del c.3055_3064del (p.Pro1019AlafsTer?) c.3466_3475del (p.Pro1156AlafsTer?) c.*3108_*3117del (n.*3108_*3117del) n.3491_3500del c.151+6707_151+6716del (n.151+6707_151+6716del) c.611_620del (n.611_620del) c.922_931del (p.Pro308AlafsTer?) c.3388_3397del (p.Pro1130AlafsTer?) c.656-823_656-814del (n.656-823_656-814del) c.3319_3328del (p.Pro1107AlafsTer?) c.3382_3391del (p.Pro1128AlafsTer?) c.3370_3379del (p.Pro1124AlafsTer?) | ClinVar dbSNP |
2 | g.144389697A>C | CA348699397 | ZEB2 | c.*3248T>G (n.*3248T>G) c.2622T>G (p.Asp874Glu) c.3399T>G (p.Asp1133Glu) c.3287T>G (p.Met1096Arg) n.3368T>G c.3063T>G (p.Asp1021Glu) c.3474T>G (p.Asp1158Glu) c.*3116T>G (n.*3116T>G) n.3499T>G c.151+6715T>G (n.151+6715T>G) c.619T>G (n.619T>G) c.930T>G (p.Asp310Glu) c.3396T>G (p.Asp1132Glu) c.656-815T>G (n.656-815T>G) c.3327T>G (p.Asp1109Glu) c.3390T>G (p.Asp1130Glu) c.3378T>G (p.Asp1126Glu) | |
2 | g.144389697A>G | CA429441153 | ZEB2 | c.*3248T>C (n.*3248T>C) c.2622T>C (p.Asp874=) c.3399T>C (p.Asp1133=) c.3287T>C (p.Met1096Thr) n.3368T>C c.3063T>C (p.Asp1021=) c.3474T>C (p.Asp1158=) c.*3116T>C (n.*3116T>C) n.3499T>C c.151+6715T>C (n.151+6715T>C) c.619T>C (n.619T>C) c.930T>C (p.Asp310=) c.3396T>C (p.Asp1132=) c.656-815T>C (n.656-815T>C) c.3327T>C (p.Asp1109=) c.3390T>C (p.Asp1130=) c.3378T>C (p.Asp1126=) | |
2 | g.144389697A>T | CA348699398 | ZEB2 | c.*3248T>A (n.*3248T>A) c.2622T>A (p.Asp874Glu) c.3399T>A (p.Asp1133Glu) c.3287T>A (p.Met1096Lys) n.3368T>A c.3063T>A (p.Asp1021Glu) c.3474T>A (p.Asp1158Glu) c.*3116T>A (n.*3116T>A) n.3499T>A c.151+6715T>A (n.151+6715T>A) c.619T>A (n.619T>A) c.930T>A (p.Asp310Glu) c.3396T>A (p.Asp1132Glu) c.656-815T>A (n.656-815T>A) c.3327T>A (p.Asp1109Glu) c.3390T>A (p.Asp1130Glu) c.3378T>A (p.Asp1126Glu) | |
2 | g.144389698T>A | CA348699401 | ZEB2 | c.*3247A>T (n.*3247A>T) c.2621A>T (p.Asp874Val) c.3398A>T (p.Asp1133Val) c.3286A>T (p.Met1096Leu) n.3367A>T c.3062A>T (p.Asp1021Val) c.3473A>T (p.Asp1158Val) c.*3115A>T (n.*3115A>T) n.3498A>T c.151+6714A>T (n.151+6714A>T) c.618A>T (n.618A>T) c.929A>T (p.Asp310Val) c.3395A>T (p.Asp1132Val) c.656-816A>T (n.656-816A>T) c.3326A>T (p.Asp1109Val) c.3389A>T (p.Asp1130Val) c.3377A>T (p.Asp1126Val) | |
2 | g.144389698T>C | CA348699400 | ZEB2 | c.*3247A>G (n.*3247A>G) c.2621A>G (p.Asp874Gly) c.3398A>G (p.Asp1133Gly) c.3286A>G (p.Met1096Val) n.3367A>G c.3062A>G (p.Asp1021Gly) c.3473A>G (p.Asp1158Gly) c.*3115A>G (n.*3115A>G) n.3498A>G c.151+6714A>G (n.151+6714A>G) c.618A>G (n.618A>G) c.929A>G (p.Asp310Gly) c.3395A>G (p.Asp1132Gly) c.656-816A>G (n.656-816A>G) c.3326A>G (p.Asp1109Gly) c.3389A>G (p.Asp1130Gly) c.3377A>G (p.Asp1126Gly) | |
2 | g.144389698T>G | CA348699399 | ZEB2 | c.*3247A>C (n.*3247A>C) c.2621A>C (p.Asp874Ala) c.3398A>C (p.Asp1133Ala) c.3286A>C (p.Met1096Leu) n.3367A>C c.3062A>C (p.Asp1021Ala) c.3473A>C (p.Asp1158Ala) c.*3115A>C (n.*3115A>C) n.3498A>C c.151+6714A>C (n.151+6714A>C) c.618A>C (n.618A>C) c.929A>C (p.Asp310Ala) c.3395A>C (p.Asp1132Ala) c.656-816A>C (n.656-816A>C) c.3326A>C (p.Asp1109Ala) c.3389A>C (p.Asp1130Ala) c.3377A>C (p.Asp1126Ala) | |
2 | g.144389699C>A | CA348699402 | ZEB2 | c.*3246G>T (n.*3246G>T) c.2620G>T (p.Asp874Tyr) c.3397G>T (p.Asp1133Tyr) c.3285G>T (p.Gly1095=) n.3366G>T c.3061G>T (p.Asp1021Tyr) c.3472G>T (p.Asp1158Tyr) c.*3114G>T (n.*3114G>T) n.3497G>T c.151+6713G>T (n.151+6713G>T) c.617G>T (n.617G>T) c.928G>T (p.Asp310Tyr) c.3394G>T (p.Asp1132Tyr) c.656-817G>T (n.656-817G>T) c.3325G>T (p.Asp1109Tyr) c.3388G>T (p.Asp1130Tyr) c.3376G>T (p.Asp1126Tyr) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.144389699C= | CA1294881305 | ZEB2 | c.*3246G= (n.*3246G=) c.2620G= (p.Asp874=) c.3397G= (p.Asp1133=) c.3285G= (p.Gly1095=) n.3366G= c.3061G= (p.Asp1021=) c.3472G= (p.Asp1158=) c.*3114G= (n.*3114G=) n.3497G= c.151+6713G= (n.151+6713G=) c.617G= (n.617G=) c.928G= (p.Asp310=) c.3394G= (p.Asp1132=) c.656-817G= (n.656-817G=) c.3325G= (p.Asp1109=) c.3388G= (p.Asp1130=) c.3376G= (p.Asp1126=) | |
2 | g.144389699C>G | CA348699403 | ZEB2 | c.*3246G>C (n.*3246G>C) c.2620G>C (p.Asp874His) c.3397G>C (p.Asp1133His) c.3285G>C (p.Gly1095=) n.3366G>C c.3061G>C (p.Asp1021His) c.3472G>C (p.Asp1158His) c.*3114G>C (n.*3114G>C) n.3497G>C c.151+6713G>C (n.151+6713G>C) c.617G>C (n.617G>C) c.928G>C (p.Asp310His) c.3394G>C (p.Asp1132His) c.656-817G>C (n.656-817G>C) c.3325G>C (p.Asp1109His) c.3388G>C (p.Asp1130His) c.3376G>C (p.Asp1126His) | |
2 | g.144389699C>T | CA348699404 | ZEB2 | c.*3246G>A (n.*3246G>A) c.2620G>A (p.Asp874Asn) c.3397G>A (p.Asp1133Asn) c.3285G>A (p.Gly1095=) n.3366G>A c.3061G>A (p.Asp1021Asn) c.3472G>A (p.Asp1158Asn) c.*3114G>A (n.*3114G>A) n.3497G>A c.151+6713G>A (n.151+6713G>A) c.617G>A (n.617G>A) c.928G>A (p.Asp310Asn) c.3394G>A (p.Asp1132Asn) c.656-817G>A (n.656-817G>A) c.3325G>A (p.Asp1109Asn) c.3388G>A (p.Asp1130Asn) c.3376G>A (p.Asp1126Asn) | dbSNP |
2 | g.144389700C>A | CA348699405 | ZEB2 | c.*3245G>T (n.*3245G>T) c.2619G>T (p.Arg873Ser) c.3396G>T (p.Arg1132Ser) c.3284G>T (p.Gly1095Val) n.3365G>T c.3060G>T (p.Arg1020Ser) c.3471G>T (p.Arg1157Ser) c.*3113G>T (n.*3113G>T) n.3496G>T c.151+6712G>T (n.151+6712G>T) c.616G>T (n.616G>T) c.927G>T (p.Arg309Ser) c.3393G>T (p.Arg1131Ser) c.656-818G>T (n.656-818G>T) c.3324G>T (p.Arg1108Ser) c.3387G>T (p.Arg1129Ser) c.3375G>T (p.Arg1125Ser) | |
2 | g.144389700C>G | CA348699406 | ZEB2 | c.*3245G>C (n.*3245G>C) c.2619G>C (p.Arg873Ser) c.3396G>C (p.Arg1132Ser) c.3284G>C (p.Gly1095Ala) n.3365G>C c.3060G>C (p.Arg1020Ser) c.3471G>C (p.Arg1157Ser) c.*3113G>C (n.*3113G>C) n.3496G>C c.151+6712G>C (n.151+6712G>C) c.616G>C (n.616G>C) c.927G>C (p.Arg309Ser) c.3393G>C (p.Arg1131Ser) c.656-818G>C (n.656-818G>C) c.3324G>C (p.Arg1108Ser) c.3387G>C (p.Arg1129Ser) c.3375G>C (p.Arg1125Ser) | |
2 | g.144389700C>T | CA429441154 | ZEB2 | c.*3245G>A (n.*3245G>A) c.2619G>A (p.Arg873=) c.3396G>A (p.Arg1132=) c.3284G>A (p.Gly1095Glu) n.3365G>A c.3060G>A (p.Arg1020=) c.3471G>A (p.Arg1157=) c.*3113G>A (n.*3113G>A) n.3496G>A c.151+6712G>A (n.151+6712G>A) c.616G>A (n.616G>A) c.927G>A (p.Arg309=) c.3393G>A (p.Arg1131=) c.656-818G>A (n.656-818G>A) c.3324G>A (p.Arg1108=) c.3387G>A (p.Arg1129=) c.3375G>A (p.Arg1125=) | gnomAD v4 |
2 | g.144389701C>A | CA348699407 | ZEB2 | c.*3244G>T (n.*3244G>T) c.2618G>T (p.Arg873Met) c.3395G>T (p.Arg1132Met) c.3283G>T (p.Gly1095Trp) n.3364G>T c.3059G>T (p.Arg1020Met) c.3470G>T (p.Arg1157Met) c.*3112G>T (n.*3112G>T) n.3495G>T c.151+6711G>T (n.151+6711G>T) c.615G>T (n.615G>T) c.926G>T (p.Arg309Met) c.3392G>T (p.Arg1131Met) c.656-819G>T (n.656-819G>T) c.3323G>T (p.Arg1108Met) c.3386G>T (p.Arg1129Met) c.3374G>T (p.Arg1125Met) | |
2 | g.144389701C>G | CA348699408 | ZEB2 | c.*3244G>C (n.*3244G>C) c.2618G>C (p.Arg873Thr) c.3395G>C (p.Arg1132Thr) c.3283G>C (p.Gly1095Arg) n.3364G>C c.3059G>C (p.Arg1020Thr) c.3470G>C (p.Arg1157Thr) c.*3112G>C (n.*3112G>C) n.3495G>C c.151+6711G>C (n.151+6711G>C) c.615G>C (n.615G>C) c.926G>C (p.Arg309Thr) c.3392G>C (p.Arg1131Thr) c.656-819G>C (n.656-819G>C) c.3323G>C (p.Arg1108Thr) c.3386G>C (p.Arg1129Thr) c.3374G>C (p.Arg1125Thr) | |
2 | g.144389701C>T | CA348699409 | ZEB2 | c.*3244G>A (n.*3244G>A) c.2618G>A (p.Arg873Lys) c.3395G>A (p.Arg1132Lys) c.3283G>A (p.Gly1095Arg) n.3364G>A c.3059G>A (p.Arg1020Lys) c.3470G>A (p.Arg1157Lys) c.*3112G>A (n.*3112G>A) n.3495G>A c.151+6711G>A (n.151+6711G>A) c.615G>A (n.615G>A) c.926G>A (p.Arg309Lys) c.3392G>A (p.Arg1131Lys) c.656-819G>A (n.656-819G>A) c.3323G>A (p.Arg1108Lys) c.3386G>A (p.Arg1129Lys) c.3374G>A (p.Arg1125Lys) | |
2 | g.144389702T>A | CA348699410 | ZEB2 | c.*3243A>T (n.*3243A>T) c.2617A>T (p.Arg873Trp) c.3394A>T (p.Arg1132Trp) c.3282A>T (p.Arg1094=) n.3363A>T c.3058A>T (p.Arg1020Trp) c.3469A>T (p.Arg1157Trp) c.*3111A>T (n.*3111A>T) n.3494A>T c.151+6710A>T (n.151+6710A>T) c.614A>T (n.614A>T) c.925A>T (p.Arg309Trp) c.3391A>T (p.Arg1131Trp) c.656-820A>T (n.656-820A>T) c.3322A>T (p.Arg1108Trp) c.3385A>T (p.Arg1129Trp) c.3373A>T (p.Arg1125Trp) | |
2 | g.144389702T>C | CA348699411 | ZEB2 | c.*3243A>G (n.*3243A>G) c.2617A>G (p.Arg873Gly) c.3394A>G (p.Arg1132Gly) c.3282A>G (p.Arg1094=) n.3363A>G c.3058A>G (p.Arg1020Gly) c.3469A>G (p.Arg1157Gly) c.*3111A>G (n.*3111A>G) n.3494A>G c.151+6710A>G (n.151+6710A>G) c.614A>G (n.614A>G) c.925A>G (p.Arg309Gly) c.3391A>G (p.Arg1131Gly) c.656-820A>G (n.656-820A>G) c.3322A>G (p.Arg1108Gly) c.3385A>G (p.Arg1129Gly) c.3373A>G (p.Arg1125Gly) | |
2 | g.144389702T>G | CA429441155 | ZEB2 | c.*3243A>C (n.*3243A>C) c.2617A>C (p.Arg873=) c.3394A>C (p.Arg1132=) c.3282A>C (p.Arg1094=) n.3363A>C c.3058A>C (p.Arg1020=) c.3469A>C (p.Arg1157=) c.*3111A>C (n.*3111A>C) n.3494A>C c.151+6710A>C (n.151+6710A>C) c.614A>C (n.614A>C) c.925A>C (p.Arg309=) c.3391A>C (p.Arg1131=) c.656-820A>C (n.656-820A>C) c.3322A>C (p.Arg1108=) c.3385A>C (p.Arg1129=) c.3373A>C (p.Arg1125=) | |
2 | g.144389703C>A | CA429441156 | ZEB2 | c.*3242G>T (n.*3242G>T) c.2616G>T (p.Pro872=) c.3393G>T (p.Pro1131=) c.3281G>T (p.Arg1094Leu) n.3362G>T c.3057G>T (p.Pro1019=) c.3468G>T (p.Pro1156=) c.*3110G>T (n.*3110G>T) n.3493G>T c.151+6709G>T (n.151+6709G>T) c.613G>T (n.613G>T) c.924G>T (p.Pro308=) c.3390G>T (p.Pro1130=) c.656-821G>T (n.656-821G>T) c.3321G>T (p.Pro1107=) c.3384G>T (p.Pro1128=) c.3372G>T (p.Pro1124=) | gnomAD v4 |
2 | g.144389703C= | CA1294881306 | ZEB2 | c.*3242G= (n.*3242G=) c.2616G= (p.Pro872=) c.3393G= (p.Pro1131=) c.3281G= (p.Arg1094=) n.3362G= c.3057G= (p.Pro1019=) c.3468G= (p.Pro1156=) c.*3110G= (n.*3110G=) n.3493G= c.151+6709G= (n.151+6709G=) c.613G= (n.613G=) c.924G= (p.Pro308=) c.3390G= (p.Pro1130=) c.656-821G= (n.656-821G=) c.3321G= (p.Pro1107=) c.3384G= (p.Pro1128=) c.3372G= (p.Pro1124=) | |
2 | g.144389703C>G | CA429441158 | ZEB2 | c.*3242G>C (n.*3242G>C) c.2616G>C (p.Pro872=) c.3393G>C (p.Pro1131=) c.3281G>C (p.Arg1094Pro) n.3362G>C c.3057G>C (p.Pro1019=) c.3468G>C (p.Pro1156=) c.*3110G>C (n.*3110G>C) n.3493G>C c.151+6709G>C (n.151+6709G>C) c.613G>C (n.613G>C) c.924G>C (p.Pro308=) c.3390G>C (p.Pro1130=) c.656-821G>C (n.656-821G>C) c.3321G>C (p.Pro1107=) c.3384G>C (p.Pro1128=) c.3372G>C (p.Pro1124=) | gnomAD v4 |
2 | g.144389703C>T | CA429441157 | ZEB2 | c.*3242G>A (n.*3242G>A) c.2616G>A (p.Pro872=) c.3393G>A (p.Pro1131=) c.3281G>A (p.Arg1094Gln) n.3362G>A c.3057G>A (p.Pro1019=) c.3468G>A (p.Pro1156=) c.*3110G>A (n.*3110G>A) n.3493G>A c.151+6709G>A (n.151+6709G>A) c.613G>A (n.613G>A) c.924G>A (p.Pro308=) c.3390G>A (p.Pro1130=) c.656-821G>A (n.656-821G>A) c.3321G>A (p.Pro1107=) c.3384G>A (p.Pro1128=) c.3372G>A (p.Pro1124=) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.144389704G>A | CA348699412 | ZEB2 | c.*3241C>T (n.*3241C>T) c.2615C>T (p.Pro872Leu) c.3392C>T (p.Pro1131Leu) c.3280C>T (p.Arg1094Ter) n.3361C>T c.3056C>T (p.Pro1019Leu) c.3467C>T (p.Pro1156Leu) c.*3109C>T (n.*3109C>T) n.3492C>T c.151+6708C>T (n.151+6708C>T) c.612C>T (n.612C>T) c.923C>T (p.Pro308Leu) c.3389C>T (p.Pro1130Leu) c.656-822C>T (n.656-822C>T) c.3320C>T (p.Pro1107Leu) c.3383C>T (p.Pro1128Leu) c.3371C>T (p.Pro1124Leu) | |
2 | g.144389704G>C | CA348699413 | ZEB2 | c.*3241C>G (n.*3241C>G) c.2615C>G (p.Pro872Arg) c.3392C>G (p.Pro1131Arg) c.3280C>G (p.Arg1094Gly) n.3361C>G c.3056C>G (p.Pro1019Arg) c.3467C>G (p.Pro1156Arg) c.*3109C>G (n.*3109C>G) n.3492C>G c.151+6708C>G (n.151+6708C>G) c.612C>G (n.612C>G) c.923C>G (p.Pro308Arg) c.3389C>G (p.Pro1130Arg) c.656-822C>G (n.656-822C>G) c.3320C>G (p.Pro1107Arg) c.3383C>G (p.Pro1128Arg) c.3371C>G (p.Pro1124Arg) | |
2 | g.144389704G>T | CA348699414 | ZEB2 | c.*3241C>A (n.*3241C>A) c.2615C>A (p.Pro872Gln) c.3392C>A (p.Pro1131Gln) c.3280C>A (p.Arg1094=) n.3361C>A c.3056C>A (p.Pro1019Gln) c.3467C>A (p.Pro1156Gln) c.*3109C>A (n.*3109C>A) n.3492C>A c.151+6708C>A (n.151+6708C>A) c.612C>A (n.612C>A) c.923C>A (p.Pro308Gln) c.3389C>A (p.Pro1130Gln) c.656-822C>A (n.656-822C>A) c.3320C>A (p.Pro1107Gln) c.3383C>A (p.Pro1128Gln) c.3371C>A (p.Pro1124Gln) | COSMIC |
2 | g.144389705G>A | CA348699417 | ZEB2 | c.*3240C>T (n.*3240C>T) c.2614C>T (p.Pro872Ser) c.3391C>T (p.Pro1131Ser) c.3279C>T (p.Cys1093=) n.3360C>T c.3055C>T (p.Pro1019Ser) c.3466C>T (p.Pro1156Ser) c.*3108C>T (n.*3108C>T) n.3491C>T c.151+6707C>T (n.151+6707C>T) c.611C>T (n.611C>T) c.922C>T (p.Pro308Ser) c.3388C>T (p.Pro1130Ser) c.656-823C>T (n.656-823C>T) c.3319C>T (p.Pro1107Ser) c.3382C>T (p.Pro1128Ser) c.3370C>T (p.Pro1124Ser) | |
2 | g.144389705G>C | CA348699416 | ZEB2 | c.*3240C>G (n.*3240C>G) c.2614C>G (p.Pro872Ala) c.3391C>G (p.Pro1131Ala) c.3279C>G (p.Cys1093Trp) n.3360C>G c.3055C>G (p.Pro1019Ala) c.3466C>G (p.Pro1156Ala) c.*3108C>G (n.*3108C>G) n.3491C>G c.151+6707C>G (n.151+6707C>G) c.611C>G (n.611C>G) c.922C>G (p.Pro308Ala) c.3388C>G (p.Pro1130Ala) c.656-823C>G (n.656-823C>G) c.3319C>G (p.Pro1107Ala) c.3382C>G (p.Pro1128Ala) c.3370C>G (p.Pro1124Ala) | |
2 | g.144389705G>T | CA348699415 | ZEB2 | c.*3240C>A (n.*3240C>A) c.2614C>A (p.Pro872Thr) c.3391C>A (p.Pro1131Thr) c.3279C>A (p.Cys1093Ter) n.3360C>A c.3055C>A (p.Pro1019Thr) c.3466C>A (p.Pro1156Thr) c.*3108C>A (n.*3108C>A) n.3491C>A c.151+6707C>A (n.151+6707C>A) c.611C>A (n.611C>A) c.922C>A (p.Pro308Thr) c.3388C>A (p.Pro1130Thr) c.656-823C>A (n.656-823C>A) c.3319C>A (p.Pro1107Thr) c.3382C>A (p.Pro1128Thr) c.3370C>A (p.Pro1124Thr) | |
2 | g.144389706C>A | CA348699418 | ZEB2 | c.*3239G>T (n.*3239G>T) c.2613G>T (p.Met871Ile) c.3390G>T (p.Met1130Ile) c.3278G>T (p.Cys1093Phe) n.3359G>T c.3054G>T (p.Met1018Ile) c.3465G>T (p.Met1155Ile) c.*3107G>T (n.*3107G>T) n.3490G>T c.151+6706G>T (n.151+6706G>T) c.610G>T (n.610G>T) c.921G>T (p.Met307Ile) c.3387G>T (p.Met1129Ile) c.656-824G>T (n.656-824G>T) c.3318G>T (p.Met1106Ile) c.3381G>T (p.Met1127Ile) c.3369G>T (p.Met1123Ile) | |
2 | g.144389706C= | CA1294881307 | ZEB2 | c.*3239G= (n.*3239G=) c.2613G= (p.Met871=) c.3390G= (p.Met1130=) c.3278G= (p.Cys1093=) n.3359G= c.3054G= (p.Met1018=) c.3465G= (p.Met1155=) c.*3107G= (n.*3107G=) n.3490G= c.151+6706G= (n.151+6706G=) c.610G= (n.610G=) c.921G= (p.Met307=) c.3387G= (p.Met1129=) c.656-824G= (n.656-824G=) c.3318G= (p.Met1106=) c.3381G= (p.Met1127=) c.3369G= (p.Met1123=) | |
2 | g.144389706C>G | CA348699420 | ZEB2 | c.*3239G>C (n.*3239G>C) c.2613G>C (p.Met871Ile) c.3390G>C (p.Met1130Ile) c.3278G>C (p.Cys1093Ser) n.3359G>C c.3054G>C (p.Met1018Ile) c.3465G>C (p.Met1155Ile) c.*3107G>C (n.*3107G>C) n.3490G>C c.151+6706G>C (n.151+6706G>C) c.610G>C (n.610G>C) c.921G>C (p.Met307Ile) c.3387G>C (p.Met1129Ile) c.656-824G>C (n.656-824G>C) c.3318G>C (p.Met1106Ile) c.3381G>C (p.Met1127Ile) c.3369G>C (p.Met1123Ile) | |
2 | g.144389706C>T | CA348699419 | ZEB2 | c.*3239G>A (n.*3239G>A) c.2613G>A (p.Met871Ile) c.3390G>A (p.Met1130Ile) c.3278G>A (p.Cys1093Tyr) n.3359G>A c.3054G>A (p.Met1018Ile) c.3465G>A (p.Met1155Ile) c.*3107G>A (n.*3107G>A) n.3490G>A c.151+6706G>A (n.151+6706G>A) c.610G>A (n.610G>A) c.921G>A (p.Met307Ile) c.3387G>A (p.Met1129Ile) c.656-824G>A (n.656-824G>A) c.3318G>A (p.Met1106Ile) c.3381G>A (p.Met1127Ile) c.3369G>A (p.Met1123Ile) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.144389707A>C | CA348699421 | ZEB2 | c.*3238T>G (n.*3238T>G) c.2612T>G (p.Met871Arg) c.3389T>G (p.Met1130Arg) c.3277T>G (p.Cys1093Gly) n.3358T>G c.3053T>G (p.Met1018Arg) c.3464T>G (p.Met1155Arg) c.*3106T>G (n.*3106T>G) n.3489T>G c.151+6705T>G (n.151+6705T>G) c.609T>G (n.609T>G) c.920T>G (p.Met307Arg) c.3386T>G (p.Met1129Arg) c.656-825T>G (n.656-825T>G) c.3317T>G (p.Met1106Arg) c.3380T>G (p.Met1127Arg) c.3368T>G (p.Met1123Arg) | |
2 | g.144389707A>G | CA348699423 | ZEB2 | c.*3238T>C (n.*3238T>C) c.2612T>C (p.Met871Thr) c.3389T>C (p.Met1130Thr) c.3277T>C (p.Cys1093Arg) n.3358T>C c.3053T>C (p.Met1018Thr) c.3464T>C (p.Met1155Thr) c.*3106T>C (n.*3106T>C) n.3489T>C c.151+6705T>C (n.151+6705T>C) c.609T>C (n.609T>C) c.920T>C (p.Met307Thr) c.3386T>C (p.Met1129Thr) c.656-825T>C (n.656-825T>C) c.3317T>C (p.Met1106Thr) c.3380T>C (p.Met1127Thr) c.3368T>C (p.Met1123Thr) | |
2 | g.144389707A>T | CA348699422 | ZEB2 | c.*3238T>A (n.*3238T>A) c.2612T>A (p.Met871Lys) c.3389T>A (p.Met1130Lys) c.3277T>A (p.Cys1093Ser) n.3358T>A c.3053T>A (p.Met1018Lys) c.3464T>A (p.Met1155Lys) c.*3106T>A (n.*3106T>A) n.3489T>A c.151+6705T>A (n.151+6705T>A) c.609T>A (n.609T>A) c.920T>A (p.Met307Lys) c.3386T>A (p.Met1129Lys) c.656-825T>A (n.656-825T>A) c.3317T>A (p.Met1106Lys) c.3380T>A (p.Met1127Lys) c.3368T>A (p.Met1123Lys) | |
2 | g.144389708T>A | CA348699425 | ZEB2 | c.*3237A>T (n.*3237A>T) c.2611A>T (p.Met871Leu) c.3388A>T (p.Met1130Leu) c.3276A>T (p.Val1092=) n.3357A>T c.3052A>T (p.Met1018Leu) c.3463A>T (p.Met1155Leu) c.*3105A>T (n.*3105A>T) n.3488A>T c.151+6704A>T (n.151+6704A>T) c.608A>T (n.608A>T) c.919A>T (p.Met307Leu) c.3385A>T (p.Met1129Leu) c.656-826A>T (n.656-826A>T) c.3316A>T (p.Met1106Leu) c.3379A>T (p.Met1127Leu) c.3367A>T (p.Met1123Leu) | dbSNP |
2 | g.144389708T>C | CA348699427 | ZEB2 | c.*3237A>G (n.*3237A>G) c.2611A>G (p.Met871Val) c.3388A>G (p.Met1130Val) c.3276A>G (p.Val1092=) n.3357A>G c.3052A>G (p.Met1018Val) c.3463A>G (p.Met1155Val) c.*3105A>G (n.*3105A>G) n.3488A>G c.151+6704A>G (n.151+6704A>G) c.608A>G (n.608A>G) c.919A>G (p.Met307Val) c.3385A>G (p.Met1129Val) c.656-826A>G (n.656-826A>G) c.3316A>G (p.Met1106Val) c.3379A>G (p.Met1127Val) c.3367A>G (p.Met1123Val) | gnomAD v4 |
2 | g.144389708T>G | CA348699429 | ZEB2 | c.*3237A>C (n.*3237A>C) c.2611A>C (p.Met871Leu) c.3388A>C (p.Met1130Leu) c.3276A>C (p.Val1092=) n.3357A>C c.3052A>C (p.Met1018Leu) c.3463A>C (p.Met1155Leu) c.*3105A>C (n.*3105A>C) n.3488A>C c.151+6704A>C (n.151+6704A>C) c.608A>C (n.608A>C) c.919A>C (p.Met307Leu) c.3385A>C (p.Met1129Leu) c.656-826A>C (n.656-826A>C) c.3316A>C (p.Met1106Leu) c.3379A>C (p.Met1127Leu) c.3367A>C (p.Met1123Leu) | |
2 | g.144389708T= | CA1294881308 | ZEB2 | c.*3237A= (n.*3237A=) c.2611A= (p.Met871=) c.3388A= (p.Met1130=) c.3276A= (p.Val1092=) n.3357A= c.3052A= (p.Met1018=) c.3463A= (p.Met1155=) c.*3105A= (n.*3105A=) n.3488A= c.151+6704A= (n.151+6704A=) c.608A= (n.608A=) c.919A= (p.Met307=) c.3385A= (p.Met1129=) c.656-826A= (n.656-826A=) c.3316A= (p.Met1106=) c.3379A= (p.Met1127=) c.3367A= (p.Met1123=) | |
2 | g.144389709A>C | CA348699430 | ZEB2 | c.*3236T>G (n.*3236T>G) c.2610T>G (p.Ser870Arg) c.3387T>G (p.Ser1129Arg) c.3275T>G (p.Val1092Gly) n.3356T>G c.3051T>G (p.Ser1017Arg) c.3462T>G (p.Ser1154Arg) c.*3104T>G (n.*3104T>G) n.3487T>G c.151+6703T>G (n.151+6703T>G) c.607T>G (n.607T>G) c.918T>G (p.Ser306Arg) c.3384T>G (p.Ser1128Arg) c.656-827T>G (n.656-827T>G) c.3315T>G (p.Ser1105Arg) c.3378T>G (p.Ser1126Arg) c.3366T>G (p.Ser1122Arg) | gnomAD v3 gnomAD v4 |
2 | g.144389709A>G | CA429441160 | ZEB2 | c.*3236T>C (n.*3236T>C) c.2610T>C (p.Ser870=) c.3387T>C (p.Ser1129=) c.3275T>C (p.Val1092Ala) n.3356T>C c.3051T>C (p.Ser1017=) c.3462T>C (p.Ser1154=) c.*3104T>C (n.*3104T>C) n.3487T>C c.151+6703T>C (n.151+6703T>C) c.607T>C (n.607T>C) c.918T>C (p.Ser306=) c.3384T>C (p.Ser1128=) c.656-827T>C (n.656-827T>C) c.3315T>C (p.Ser1105=) c.3378T>C (p.Ser1126=) c.3366T>C (p.Ser1122=) | COSMIC |
2 | g.144389709A>T | CA348699431 | ZEB2 | c.*3236T>A (n.*3236T>A) c.2610T>A (p.Ser870Arg) c.3387T>A (p.Ser1129Arg) c.3275T>A (p.Val1092Glu) n.3356T>A c.3051T>A (p.Ser1017Arg) c.3462T>A (p.Ser1154Arg) c.*3104T>A (n.*3104T>A) n.3487T>A c.151+6703T>A (n.151+6703T>A) c.607T>A (n.607T>A) c.918T>A (p.Ser306Arg) c.3384T>A (p.Ser1128Arg) c.656-827T>A (n.656-827T>A) c.3315T>A (p.Ser1105Arg) c.3378T>A (p.Ser1126Arg) c.3366T>A (p.Ser1122Arg) | |
2 | g.144389710del | CA429441161 | ZEB2 | c.*3235del (n.*3235del) c.2609del (p.Ser870IlefsTer?) c.3386del (p.Ser1129IlefsTer?) c.3274del (p.Val1092TyrfsTer?) n.3355del c.3050del (p.Ser1017IlefsTer?) c.3461del (p.Ser1154IlefsTer?) c.*3103del (n.*3103del) n.3486del c.151+6702del (n.151+6702del) c.606del (n.606del) c.917del (p.Ser306IlefsTer?) c.3383del (p.Ser1128IlefsTer?) c.656-828del (n.656-828del) c.3314del (p.Ser1105IlefsTer?) c.3377del (p.Ser1126IlefsTer?) c.3365del (p.Ser1122IlefsTer?) | |
2 | g.144389710C>A | CA348699432 | ZEB2 | c.*3235G>T (n.*3235G>T) c.2609G>T (p.Ser870Ile) c.3386G>T (p.Ser1129Ile) c.3274G>T (p.Val1092Leu) n.3355G>T c.3050G>T (p.Ser1017Ile) c.3461G>T (p.Ser1154Ile) c.*3103G>T (n.*3103G>T) n.3486G>T c.151+6702G>T (n.151+6702G>T) c.606G>T (n.606G>T) c.917G>T (p.Ser306Ile) c.3383G>T (p.Ser1128Ile) c.656-828G>T (n.656-828G>T) c.3314G>T (p.Ser1105Ile) c.3377G>T (p.Ser1126Ile) c.3365G>T (p.Ser1122Ile) | |
2 | g.144389710C>G | CA348699433 | ZEB2 | c.*3235G>C (n.*3235G>C) c.2609G>C (p.Ser870Thr) c.3386G>C (p.Ser1129Thr) c.3274G>C (p.Val1092Leu) n.3355G>C c.3050G>C (p.Ser1017Thr) c.3461G>C (p.Ser1154Thr) c.*3103G>C (n.*3103G>C) n.3486G>C c.151+6702G>C (n.151+6702G>C) c.606G>C (n.606G>C) c.917G>C (p.Ser306Thr) c.3383G>C (p.Ser1128Thr) c.656-828G>C (n.656-828G>C) c.3314G>C (p.Ser1105Thr) c.3377G>C (p.Ser1126Thr) c.3365G>C (p.Ser1122Thr) | |
2 | g.144389710C>T | CA348699434 | ZEB2 | c.*3235G>A (n.*3235G>A) c.2609G>A (p.Ser870Asn) c.3386G>A (p.Ser1129Asn) c.3274G>A (p.Val1092Ile) n.3355G>A c.3050G>A (p.Ser1017Asn) c.3461G>A (p.Ser1154Asn) c.*3103G>A (n.*3103G>A) n.3486G>A c.151+6702G>A (n.151+6702G>A) c.606G>A (n.606G>A) c.917G>A (p.Ser306Asn) c.3383G>A (p.Ser1128Asn) c.656-828G>A (n.656-828G>A) c.3314G>A (p.Ser1105Asn) c.3377G>A (p.Ser1126Asn) c.3365G>A (p.Ser1122Asn) |