Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.144404063G>A | CA429218598 | ZEB2 | c.*509C>T (n.*509C>T) c.-118C>T (n.-118C>T) c.660C>T (p.Tyr220=) n.629C>T c.324C>T (p.Tyr108=) c.*377C>T (n.*377C>T) n.760C>T c.-133-5213C>T (n.-133-5213C>T) c.657C>T (p.Tyr219=) c.744C>T (p.Tyr248=) c.399C>T (p.Tyr133=) c.747C>T (p.Tyr249=) c.645C>T (p.Tyr215=) n.606C>T c.588C>T (p.Tyr196=) c.651C>T (p.Tyr217=) c.639C>T (p.Tyr213=) | ClinVar |
2 | g.144404063G>C | CA274509 | ZEB2 | c.*509C>G (n.*509C>G) c.-118C>G (n.-118C>G) c.660C>G (p.Tyr220Ter) n.629C>G c.324C>G (p.Tyr108Ter) c.*377C>G (n.*377C>G) n.760C>G c.-133-5213C>G (n.-133-5213C>G) c.657C>G (p.Tyr219Ter) c.744C>G (p.Tyr248Ter) c.399C>G (p.Tyr133Ter) c.747C>G (p.Tyr249Ter) c.645C>G (p.Tyr215Ter) n.606C>G c.588C>G (p.Tyr196Ter) c.651C>G (p.Tyr217Ter) c.639C>G (p.Tyr213Ter) | ClinVar dbSNP |
2 | g.144404063G= | CA1294887217 | ZEB2 | c.*509C= (n.*509C=) c.-118C= (n.-118C=) c.660C= (p.Tyr220=) n.629C= c.324C= (p.Tyr108=) c.*377C= (n.*377C=) n.760C= c.-133-5213C= (n.-133-5213C=) c.657C= (p.Tyr219=) c.744C= (p.Tyr248=) c.399C= (p.Tyr133=) c.747C= (p.Tyr249=) c.645C= (p.Tyr215=) n.606C= c.588C= (p.Tyr196=) c.651C= (p.Tyr217=) c.639C= (p.Tyr213=) | |
2 | g.144404063G>T | CA57561908 | ZEB2 | c.*509C>A (n.*509C>A) c.-118C>A (n.-118C>A) c.660C>A (p.Tyr220Ter) n.629C>A c.324C>A (p.Tyr108Ter) c.*377C>A (n.*377C>A) n.760C>A c.-133-5213C>A (n.-133-5213C>A) c.657C>A (p.Tyr219Ter) c.744C>A (p.Tyr248Ter) c.399C>A (p.Tyr133Ter) c.747C>A (p.Tyr249Ter) c.645C>A (p.Tyr215Ter) n.606C>A c.588C>A (p.Tyr196Ter) c.651C>A (p.Tyr217Ter) c.639C>A (p.Tyr213Ter) | dbSNP |
2 | g.144404063_144404080delinsGTAGCCCCGGTCGCAGTA | CA1294887218 | ZEB2 | c.*492_*509delinsTACTGCGACCGGGGCTAC (n.*492_*509delinsTACTGCGACCGGGGCTAC) c.-135_-118delinsTACTGCGACCGGGGCTAC (n.-135_-118delinsTACTGCGACCGGGGCTAC) c.643_660delinsTACTGCGACCGGGGCTAC (p.Tyr215=) n.612_629delinsTACTGCGACCGGGGCTAC c.307_324delinsTACTGCGACCGGGGCTAC (p.Tyr103=) c.*360_*377delinsTACTGCGACCGGGGCTAC (n.*360_*377delinsTACTGCGACCGGGGCTAC) n.743_760delinsTACTGCGACCGGGGCTAC c.-133-5230_-133-5213delinsTACTGCGACCGGGGCTAC (n.-133-5230_-133-5213delinsTACTGCGACCGGGGCTAC) c.640_657delinsTACTGCGACCGGGGCTAC (p.Tyr214=) c.727_744delinsTACTGCGACCGGGGCTAC (p.Tyr243=) c.382_399delinsTACTGCGACCGGGGCTAC (p.Tyr128=) c.730_747delinsTACTGCGACCGGGGCTAC (p.Tyr244=) c.628_645delinsTACTGCGACCGGGGCTAC (p.Tyr210=) n.589_606delinsTACTGCGACCGGGGCTAC c.571_588delinsTACTGCGACCGGGGCTAC (p.Tyr191=) c.634_651delinsTACTGCGACCGGGGCTAC (p.Tyr212=) c.622_639delinsTACTGCGACCGGGGCTAC (p.Tyr208=) | |
2 | g.144404064T>A | CA348714885 | ZEB2 | c.*508A>T (n.*508A>T) c.-119A>T (n.-119A>T) c.659A>T (p.Tyr220Phe) n.628A>T c.323A>T (p.Tyr108Phe) c.*376A>T (n.*376A>T) n.759A>T c.-133-5214A>T (n.-133-5214A>T) c.656A>T (p.Tyr219Phe) c.743A>T (p.Tyr248Phe) c.398A>T (p.Tyr133Phe) c.746A>T (p.Tyr249Phe) c.644A>T (p.Tyr215Phe) n.605A>T c.587A>T (p.Tyr196Phe) c.650A>T (p.Tyr217Phe) c.638A>T (p.Tyr213Phe) | |
2 | g.144404064T>C | CA348714886 | ZEB2 | c.*508A>G (n.*508A>G) c.-119A>G (n.-119A>G) c.659A>G (p.Tyr220Cys) n.628A>G c.323A>G (p.Tyr108Cys) c.*376A>G (n.*376A>G) n.759A>G c.-133-5214A>G (n.-133-5214A>G) c.656A>G (p.Tyr219Cys) c.743A>G (p.Tyr248Cys) c.398A>G (p.Tyr133Cys) c.746A>G (p.Tyr249Cys) c.644A>G (p.Tyr215Cys) n.605A>G c.587A>G (p.Tyr196Cys) c.650A>G (p.Tyr217Cys) c.638A>G (p.Tyr213Cys) | ClinVar dbSNP |
2 | g.144404064T>G | CA348714887 | ZEB2 | c.*508A>C (n.*508A>C) c.-119A>C (n.-119A>C) c.659A>C (p.Tyr220Ser) n.628A>C c.323A>C (p.Tyr108Ser) c.*376A>C (n.*376A>C) n.759A>C c.-133-5214A>C (n.-133-5214A>C) c.656A>C (p.Tyr219Ser) c.743A>C (p.Tyr248Ser) c.398A>C (p.Tyr133Ser) c.746A>C (p.Tyr249Ser) c.644A>C (p.Tyr215Ser) n.605A>C c.587A>C (p.Tyr196Ser) c.650A>C (p.Tyr217Ser) c.638A>C (p.Tyr213Ser) | |
2 | g.144404064T= | CA1294887219 | ZEB2 | c.*508A= (n.*508A=) c.-119A= (n.-119A=) c.659A= (p.Tyr220=) n.628A= c.323A= (p.Tyr108=) c.*376A= (n.*376A=) n.759A= c.-133-5214A= (n.-133-5214A=) c.656A= (p.Tyr219=) c.743A= (p.Tyr248=) c.398A= (p.Tyr133=) c.746A= (p.Tyr249=) c.644A= (p.Tyr215=) n.605A= c.587A= (p.Tyr196=) c.650A= (p.Tyr217=) c.638A= (p.Tyr213=) | |
2 | g.144404064_144404080del | CA267214 | ZEB2 | c.*492_*508del (n.*492_*508del) c.-135_-119del (n.-135_-119del) c.643_659del (p.Tyr215GlnfsTer18) n.612_628del c.307_323del (p.Tyr103GlnfsTer18) c.*360_*376del (n.*360_*376del) n.743_759del c.-133-5230_-133-5214del (n.-133-5230_-133-5214del) c.640_656del (p.Tyr214GlnfsTer18) c.727_743del (p.Tyr243GlnfsTer18) c.382_398del (p.Tyr128GlnfsTer18) c.730_746del (p.Tyr244GlnfsTer18) c.628_644del (p.Tyr210GlnfsTer18) n.589_605del c.571_587del (p.Tyr191GlnfsTer18) c.634_650del (p.Tyr212GlnfsTer18) c.622_638del (p.Tyr208GlnfsTer18) | ClinVar dbSNP |
2 | g.144404065A>C | CA348714888 | ZEB2 | c.*507T>G (n.*507T>G) c.-120T>G (n.-120T>G) c.658T>G (p.Tyr220Asp) n.627T>G c.322T>G (p.Tyr108Asp) c.*375T>G (n.*375T>G) n.758T>G c.-133-5215T>G (n.-133-5215T>G) c.655T>G (p.Tyr219Asp) c.742T>G (p.Tyr248Asp) c.397T>G (p.Tyr133Asp) c.745T>G (p.Tyr249Asp) c.643T>G (p.Tyr215Asp) n.604T>G c.586T>G (p.Tyr196Asp) c.649T>G (p.Tyr217Asp) c.637T>G (p.Tyr213Asp) | |
2 | g.144404065A>G | CA348714889 | ZEB2 | c.*507T>C (n.*507T>C) c.-120T>C (n.-120T>C) c.658T>C (p.Tyr220His) n.627T>C c.322T>C (p.Tyr108His) c.*375T>C (n.*375T>C) n.758T>C c.-133-5215T>C (n.-133-5215T>C) c.655T>C (p.Tyr219His) c.742T>C (p.Tyr248His) c.397T>C (p.Tyr133His) c.745T>C (p.Tyr249His) c.643T>C (p.Tyr215His) n.604T>C c.586T>C (p.Tyr196His) c.649T>C (p.Tyr217His) c.637T>C (p.Tyr213His) | |
2 | g.144404065A>T | CA348714890 | ZEB2 | c.*507T>A (n.*507T>A) c.-120T>A (n.-120T>A) c.658T>A (p.Tyr220Asn) n.627T>A c.322T>A (p.Tyr108Asn) c.*375T>A (n.*375T>A) n.758T>A c.-133-5215T>A (n.-133-5215T>A) c.655T>A (p.Tyr219Asn) c.742T>A (p.Tyr248Asn) c.397T>A (p.Tyr133Asn) c.745T>A (p.Tyr249Asn) c.643T>A (p.Tyr215Asn) n.604T>A c.586T>A (p.Tyr196Asn) c.649T>A (p.Tyr217Asn) c.637T>A (p.Tyr213Asn) | |
2 | g.144404066G>A | CA429218603 | ZEB2 | c.*506C>T (n.*506C>T) c.-121C>T (n.-121C>T) c.657C>T (p.Gly219=) n.626C>T c.321C>T (p.Gly107=) c.*374C>T (n.*374C>T) n.757C>T c.-133-5216C>T (n.-133-5216C>T) c.654C>T (p.Gly218=) c.741C>T (p.Gly247=) c.396C>T (p.Gly132=) c.744C>T (p.Gly248=) c.642C>T (p.Gly214=) n.603C>T c.585C>T (p.Gly195=) c.648C>T (p.Gly216=) c.636C>T (p.Gly212=) | |
2 | g.144404066G>C | CA429218604 | ZEB2 | c.*506C>G (n.*506C>G) c.-121C>G (n.-121C>G) c.657C>G (p.Gly219=) n.626C>G c.321C>G (p.Gly107=) c.*374C>G (n.*374C>G) n.757C>G c.-133-5216C>G (n.-133-5216C>G) c.654C>G (p.Gly218=) c.741C>G (p.Gly247=) c.396C>G (p.Gly132=) c.744C>G (p.Gly248=) c.642C>G (p.Gly214=) n.603C>G c.585C>G (p.Gly195=) c.648C>G (p.Gly216=) c.636C>G (p.Gly212=) | |
2 | g.144404066G>T | CA429218605 | ZEB2 | c.*506C>A (n.*506C>A) c.-121C>A (n.-121C>A) c.657C>A (p.Gly219=) n.626C>A c.321C>A (p.Gly107=) c.*374C>A (n.*374C>A) n.757C>A c.-133-5216C>A (n.-133-5216C>A) c.654C>A (p.Gly218=) c.741C>A (p.Gly247=) c.396C>A (p.Gly132=) c.744C>A (p.Gly248=) c.642C>A (p.Gly214=) n.603C>A c.585C>A (p.Gly195=) c.648C>A (p.Gly216=) c.636C>A (p.Gly212=) | COSMIC |
2 | g.144404066_144404067delinsGC | CA1294887220 | ZEB2 | c.*505_*506delinsGC (n.*505_*506delinsGC) c.-122_-121delinsGC (n.-122_-121delinsGC) c.656_657delinsGC (p.Gly219=) n.625_626delinsGC c.320_321delinsGC (p.Gly107=) c.*373_*374delinsGC (n.*373_*374delinsGC) n.756_757delinsGC c.-133-5217_-133-5216delinsGC (n.-133-5217_-133-5216delinsGC) c.653_654delinsGC (p.Gly218=) c.740_741delinsGC (p.Gly247=) c.395_396delinsGC (p.Gly132=) c.743_744delinsGC (p.Gly248=) c.641_642delinsGC (p.Gly214=) n.602_603delinsGC c.584_585delinsGC (p.Gly195=) c.647_648delinsGC (p.Gly216=) c.635_636delinsGC (p.Gly212=) | |
2 | g.144404067C>A | CA348714891 | ZEB2 | c.*505G>T (n.*505G>T) c.-122G>T (n.-122G>T) c.656G>T (p.Gly219Val) n.625G>T c.320G>T (p.Gly107Val) c.*373G>T (n.*373G>T) n.756G>T c.-133-5217G>T (n.-133-5217G>T) c.653G>T (p.Gly218Val) c.740G>T (p.Gly247Val) c.395G>T (p.Gly132Val) c.743G>T (p.Gly248Val) c.641G>T (p.Gly214Val) n.602G>T c.584G>T (p.Gly195Val) c.647G>T (p.Gly216Val) c.635G>T (p.Gly212Val) | |
2 | g.144404067C>G | CA348714892 | ZEB2 | c.*505G>C (n.*505G>C) c.-122G>C (n.-122G>C) c.656G>C (p.Gly219Ala) n.625G>C c.320G>C (p.Gly107Ala) c.*373G>C (n.*373G>C) n.756G>C c.-133-5217G>C (n.-133-5217G>C) c.653G>C (p.Gly218Ala) c.740G>C (p.Gly247Ala) c.395G>C (p.Gly132Ala) c.743G>C (p.Gly248Ala) c.641G>C (p.Gly214Ala) n.602G>C c.584G>C (p.Gly195Ala) c.647G>C (p.Gly216Ala) c.635G>C (p.Gly212Ala) | |
2 | g.144404067C>T | CA348714893 | ZEB2 | c.*505G>A (n.*505G>A) c.-122G>A (n.-122G>A) c.656G>A (p.Gly219Asp) n.625G>A c.320G>A (p.Gly107Asp) c.*373G>A (n.*373G>A) n.756G>A c.-133-5217G>A (n.-133-5217G>A) c.653G>A (p.Gly218Asp) c.740G>A (p.Gly247Asp) c.395G>A (p.Gly132Asp) c.743G>A (p.Gly248Asp) c.641G>A (p.Gly214Asp) n.602G>A c.584G>A (p.Gly195Asp) c.647G>A (p.Gly216Asp) c.635G>A (p.Gly212Asp) | |
2 | g.144404070del | CA915942802 | ZEB2 | c.*505del (n.*505del) c.-122del (n.-122del) c.656del (p.Gly219AlafsTer5) n.625del c.320del (p.Gly107AlafsTer5) c.*373del (n.*373del) n.756del c.-133-5217del (n.-133-5217del) c.653del (p.Gly218AlafsTer5) c.740del (p.Gly247AlafsTer5) c.395del (p.Gly132AlafsTer5) c.743del (p.Gly248AlafsTer5) c.641del (p.Gly214AlafsTer5) n.602del c.584del (p.Gly195AlafsTer5) c.647del (p.Gly216AlafsTer5) c.635del (p.Gly212AlafsTer5) | ClinVar dbSNP |
2 | g.144404068C>A | CA348714894 | ZEB2 | c.*504G>T (n.*504G>T) c.-123G>T (n.-123G>T) c.655G>T (p.Gly219Cys) n.624G>T c.319G>T (p.Gly107Cys) c.*372G>T (n.*372G>T) n.755G>T c.-133-5218G>T (n.-133-5218G>T) c.652G>T (p.Gly218Cys) c.739G>T (p.Gly247Cys) c.394G>T (p.Gly132Cys) c.742G>T (p.Gly248Cys) c.640G>T (p.Gly214Cys) n.601G>T c.583G>T (p.Gly195Cys) c.646G>T (p.Gly216Cys) c.634G>T (p.Gly212Cys) | |
2 | g.144404068C>G | CA348714895 | ZEB2 | c.*504G>C (n.*504G>C) c.-123G>C (n.-123G>C) c.655G>C (p.Gly219Arg) n.624G>C c.319G>C (p.Gly107Arg) c.*372G>C (n.*372G>C) n.755G>C c.-133-5218G>C (n.-133-5218G>C) c.652G>C (p.Gly218Arg) c.739G>C (p.Gly247Arg) c.394G>C (p.Gly132Arg) c.742G>C (p.Gly248Arg) c.640G>C (p.Gly214Arg) n.601G>C c.583G>C (p.Gly195Arg) c.646G>C (p.Gly216Arg) c.634G>C (p.Gly212Arg) | |
2 | g.144404068C>T | CA348714896 | ZEB2 | c.*504G>A (n.*504G>A) c.-123G>A (n.-123G>A) c.655G>A (p.Gly219Ser) n.624G>A c.319G>A (p.Gly107Ser) c.*372G>A (n.*372G>A) n.755G>A c.-133-5218G>A (n.-133-5218G>A) c.652G>A (p.Gly218Ser) c.739G>A (p.Gly247Ser) c.394G>A (p.Gly132Ser) c.742G>A (p.Gly248Ser) c.640G>A (p.Gly214Ser) n.601G>A c.583G>A (p.Gly195Ser) c.646G>A (p.Gly216Ser) c.634G>A (p.Gly212Ser) | |
2 | g.144404069C>A | CA429218609 | ZEB2 | c.*503G>T (n.*503G>T) c.-124G>T (n.-124G>T) c.654G>T (p.Arg218=) n.623G>T c.318G>T (p.Arg106=) c.*371G>T (n.*371G>T) n.754G>T c.-133-5219G>T (n.-133-5219G>T) c.651G>T (p.Arg217=) c.738G>T (p.Arg246=) c.393G>T (p.Arg131=) c.741G>T (p.Arg247=) c.639G>T (p.Arg213=) n.600G>T c.582G>T (p.Arg194=) c.645G>T (p.Arg215=) c.633G>T (p.Arg211=) | |
2 | g.144404069C>G | CA429218610 | ZEB2 | c.*503G>C (n.*503G>C) c.-124G>C (n.-124G>C) c.654G>C (p.Arg218=) n.623G>C c.318G>C (p.Arg106=) c.*371G>C (n.*371G>C) n.754G>C c.-133-5219G>C (n.-133-5219G>C) c.651G>C (p.Arg217=) c.738G>C (p.Arg246=) c.393G>C (p.Arg131=) c.741G>C (p.Arg247=) c.639G>C (p.Arg213=) n.600G>C c.582G>C (p.Arg194=) c.645G>C (p.Arg215=) c.633G>C (p.Arg211=) | COSMIC |
2 | g.144404069C>T | CA429218608 | ZEB2 | c.*503G>A (n.*503G>A) c.-124G>A (n.-124G>A) c.654G>A (p.Arg218=) n.623G>A c.318G>A (p.Arg106=) c.*371G>A (n.*371G>A) n.754G>A c.-133-5219G>A (n.-133-5219G>A) c.651G>A (p.Arg217=) c.738G>A (p.Arg246=) c.393G>A (p.Arg131=) c.741G>A (p.Arg247=) c.639G>A (p.Arg213=) n.600G>A c.582G>A (p.Arg194=) c.645G>A (p.Arg215=) c.633G>A (p.Arg211=) | |
2 | g.144404070C>A | CA348714897 | ZEB2 | c.*502G>T (n.*502G>T) c.-125G>T (n.-125G>T) c.653G>T (p.Arg218Leu) n.622G>T c.317G>T (p.Arg106Leu) c.*370G>T (n.*370G>T) n.753G>T c.-133-5220G>T (n.-133-5220G>T) c.650G>T (p.Arg217Leu) c.737G>T (p.Arg246Leu) c.392G>T (p.Arg131Leu) c.740G>T (p.Arg247Leu) c.638G>T (p.Arg213Leu) n.599G>T c.581G>T (p.Arg194Leu) c.644G>T (p.Arg215Leu) c.632G>T (p.Arg211Leu) | |
2 | g.144404070C>G | CA348714898 | ZEB2 | c.*502G>C (n.*502G>C) c.-125G>C (n.-125G>C) c.653G>C (p.Arg218Pro) n.622G>C c.317G>C (p.Arg106Pro) c.*370G>C (n.*370G>C) n.753G>C c.-133-5220G>C (n.-133-5220G>C) c.650G>C (p.Arg217Pro) c.737G>C (p.Arg246Pro) c.392G>C (p.Arg131Pro) c.740G>C (p.Arg247Pro) c.638G>C (p.Arg213Pro) n.599G>C c.581G>C (p.Arg194Pro) c.644G>C (p.Arg215Pro) c.632G>C (p.Arg211Pro) | |
2 | g.144404070C>T | CA348714899 | ZEB2 | c.*502G>A (n.*502G>A) c.-125G>A (n.-125G>A) c.653G>A (p.Arg218Gln) n.622G>A c.317G>A (p.Arg106Gln) c.*370G>A (n.*370G>A) n.753G>A c.-133-5220G>A (n.-133-5220G>A) c.650G>A (p.Arg217Gln) c.737G>A (p.Arg246Gln) c.392G>A (p.Arg131Gln) c.740G>A (p.Arg247Gln) c.638G>A (p.Arg213Gln) n.599G>A c.581G>A (p.Arg194Gln) c.644G>A (p.Arg215Gln) c.632G>A (p.Arg211Gln) | COSMIC |
2 | g.144404072_144404075dup | CA2586965039 | ZEB2 | c.*499_*502dup (n.*499_*502dup) c.-128_-125dup (n.-128_-125dup) c.650_653dup (p.Gly219ProfsTer21) n.619_622dup c.314_317dup (p.Gly107ProfsTer21) c.*367_*370dup (n.*367_*370dup) n.750_753dup c.-133-5223_-133-5220dup (n.-133-5223_-133-5220dup) c.647_650dup (p.Gly218ProfsTer21) c.734_737dup (p.Gly247ProfsTer21) c.389_392dup (p.Gly132ProfsTer21) c.737_740dup (p.Gly248ProfsTer21) c.635_638dup (p.Gly214ProfsTer21) n.596_599dup c.578_581dup (p.Gly195ProfsTer21) c.641_644dup (p.Gly216ProfsTer21) c.629_632dup (p.Gly212ProfsTer21) | |
2 | g.144404071G>A | CA348714900 | ZEB2 | c.*501C>T (n.*501C>T) c.-126C>T (n.-126C>T) c.652C>T (p.Arg218Trp) n.621C>T c.316C>T (p.Arg106Trp) c.*369C>T (n.*369C>T) n.752C>T c.-133-5221C>T (n.-133-5221C>T) c.649C>T (p.Arg217Trp) c.736C>T (p.Arg246Trp) c.391C>T (p.Arg131Trp) c.739C>T (p.Arg247Trp) c.637C>T (p.Arg213Trp) n.598C>T c.580C>T (p.Arg194Trp) c.643C>T (p.Arg215Trp) c.631C>T (p.Arg211Trp) | ClinVar gnomAD v4 |
2 | g.144404071G>C | CA348714901 | ZEB2 | c.*501C>G (n.*501C>G) c.-126C>G (n.-126C>G) c.652C>G (p.Arg218Gly) n.621C>G c.316C>G (p.Arg106Gly) c.*369C>G (n.*369C>G) n.752C>G c.-133-5221C>G (n.-133-5221C>G) c.649C>G (p.Arg217Gly) c.736C>G (p.Arg246Gly) c.391C>G (p.Arg131Gly) c.739C>G (p.Arg247Gly) c.637C>G (p.Arg213Gly) n.598C>G c.580C>G (p.Arg194Gly) c.643C>G (p.Arg215Gly) c.631C>G (p.Arg211Gly) | |
2 | g.144404071G>T | CA429218614 | ZEB2 | c.*501C>A (n.*501C>A) c.-126C>A (n.-126C>A) c.652C>A (p.Arg218=) n.621C>A c.316C>A (p.Arg106=) c.*369C>A (n.*369C>A) n.752C>A c.-133-5221C>A (n.-133-5221C>A) c.649C>A (p.Arg217=) c.736C>A (p.Arg246=) c.391C>A (p.Arg131=) c.739C>A (p.Arg247=) c.637C>A (p.Arg213=) n.598C>A c.580C>A (p.Arg194=) c.643C>A (p.Arg215=) c.631C>A (p.Arg211=) | |
2 | g.144404072del | CA2586965040 | ZEB2 | c.*501del (n.*501del) c.-126del (n.-126del) c.652del (p.Arg218GlyfsTer6) n.621del c.316del (p.Arg106GlyfsTer6) c.*369del (n.*369del) n.752del c.-133-5221del (n.-133-5221del) c.649del (p.Arg217GlyfsTer6) c.736del (p.Arg246GlyfsTer6) c.391del (p.Arg131GlyfsTer6) c.739del (p.Arg247GlyfsTer6) c.637del (p.Arg213GlyfsTer6) n.598del c.580del (p.Arg194GlyfsTer6) c.643del (p.Arg215GlyfsTer6) c.631del (p.Arg211GlyfsTer6) | |
2 | g.144404072G>A | CA57561920 | ZEB2 | c.*500C>T (n.*500C>T) c.-127C>T (n.-127C>T) c.651C>T (p.Asp217=) n.620C>T c.315C>T (p.Asp105=) c.*368C>T (n.*368C>T) n.751C>T c.-133-5222C>T (n.-133-5222C>T) c.648C>T (p.Asp216=) c.735C>T (p.Asp245=) c.390C>T (p.Asp130=) c.738C>T (p.Asp246=) c.636C>T (p.Asp212=) n.597C>T c.579C>T (p.Asp193=) c.642C>T (p.Asp214=) c.630C>T (p.Asp210=) | dbSNP |
2 | g.144404072G>C | CA348714902 | ZEB2 | c.*500C>G (n.*500C>G) c.-127C>G (n.-127C>G) c.651C>G (p.Asp217Glu) n.620C>G c.315C>G (p.Asp105Glu) c.*368C>G (n.*368C>G) n.751C>G c.-133-5222C>G (n.-133-5222C>G) c.648C>G (p.Asp216Glu) c.735C>G (p.Asp245Glu) c.390C>G (p.Asp130Glu) c.738C>G (p.Asp246Glu) c.636C>G (p.Asp212Glu) n.597C>G c.579C>G (p.Asp193Glu) c.642C>G (p.Asp214Glu) c.630C>G (p.Asp210Glu) | |
2 | g.144404072G= | CA1294887221 | ZEB2 | c.*500C= (n.*500C=) c.-127C= (n.-127C=) c.651C= (p.Asp217=) n.620C= c.315C= (p.Asp105=) c.*368C= (n.*368C=) n.751C= c.-133-5222C= (n.-133-5222C=) c.648C= (p.Asp216=) c.735C= (p.Asp245=) c.390C= (p.Asp130=) c.738C= (p.Asp246=) c.636C= (p.Asp212=) n.597C= c.579C= (p.Asp193=) c.642C= (p.Asp214=) c.630C= (p.Asp210=) | |
2 | g.144404072G>T | CA348714903 | ZEB2 | c.*500C>A (n.*500C>A) c.-127C>A (n.-127C>A) c.651C>A (p.Asp217Glu) n.620C>A c.315C>A (p.Asp105Glu) c.*368C>A (n.*368C>A) n.751C>A c.-133-5222C>A (n.-133-5222C>A) c.648C>A (p.Asp216Glu) c.735C>A (p.Asp245Glu) c.390C>A (p.Asp130Glu) c.738C>A (p.Asp246Glu) c.636C>A (p.Asp212Glu) n.597C>A c.579C>A (p.Asp193Glu) c.642C>A (p.Asp214Glu) c.630C>A (p.Asp210Glu) | |
2 | g.144404073T>A | CA348714904 | ZEB2 | c.*499A>T (n.*499A>T) c.-128A>T (n.-128A>T) c.650A>T (p.Asp217Val) n.619A>T c.314A>T (p.Asp105Val) c.*367A>T (n.*367A>T) n.750A>T c.-133-5223A>T (n.-133-5223A>T) c.647A>T (p.Asp216Val) c.734A>T (p.Asp245Val) c.389A>T (p.Asp130Val) c.737A>T (p.Asp246Val) c.635A>T (p.Asp212Val) n.596A>T c.578A>T (p.Asp193Val) c.641A>T (p.Asp214Val) c.629A>T (p.Asp210Val) | |
2 | g.144404073T>C | CA348714905 | ZEB2 | c.*499A>G (n.*499A>G) c.-128A>G (n.-128A>G) c.650A>G (p.Asp217Gly) n.619A>G c.314A>G (p.Asp105Gly) c.*367A>G (n.*367A>G) n.750A>G c.-133-5223A>G (n.-133-5223A>G) c.647A>G (p.Asp216Gly) c.734A>G (p.Asp245Gly) c.389A>G (p.Asp130Gly) c.737A>G (p.Asp246Gly) c.635A>G (p.Asp212Gly) n.596A>G c.578A>G (p.Asp193Gly) c.641A>G (p.Asp214Gly) c.629A>G (p.Asp210Gly) | |
2 | g.144404073T>G | CA348714906 | ZEB2 | c.*499A>C (n.*499A>C) c.-128A>C (n.-128A>C) c.650A>C (p.Asp217Ala) n.619A>C c.314A>C (p.Asp105Ala) c.*367A>C (n.*367A>C) n.750A>C c.-133-5223A>C (n.-133-5223A>C) c.647A>C (p.Asp216Ala) c.734A>C (p.Asp245Ala) c.389A>C (p.Asp130Ala) c.737A>C (p.Asp246Ala) c.635A>C (p.Asp212Ala) n.596A>C c.578A>C (p.Asp193Ala) c.641A>C (p.Asp214Ala) c.629A>C (p.Asp210Ala) | |
2 | g.144404074C>A | CA57561924 | ZEB2 | c.*498G>T (n.*498G>T) c.-129G>T (n.-129G>T) c.649G>T (p.Asp217Tyr) n.618G>T c.313G>T (p.Asp105Tyr) c.*366G>T (n.*366G>T) n.749G>T c.-133-5224G>T (n.-133-5224G>T) c.646G>T (p.Asp216Tyr) c.733G>T (p.Asp245Tyr) c.388G>T (p.Asp130Tyr) c.736G>T (p.Asp246Tyr) c.634G>T (p.Asp212Tyr) n.595G>T c.577G>T (p.Asp193Tyr) c.640G>T (p.Asp214Tyr) c.628G>T (p.Asp210Tyr) | dbSNP gnomAD v4 |
2 | g.144404074C= | CA1294887222 | ZEB2 | c.*498G= (n.*498G=) c.-129G= (n.-129G=) c.649G= (p.Asp217=) n.618G= c.313G= (p.Asp105=) c.*366G= (n.*366G=) n.749G= c.-133-5224G= (n.-133-5224G=) c.646G= (p.Asp216=) c.733G= (p.Asp245=) c.388G= (p.Asp130=) c.736G= (p.Asp246=) c.634G= (p.Asp212=) n.595G= c.577G= (p.Asp193=) c.640G= (p.Asp214=) c.628G= (p.Asp210=) | |
2 | g.144404074C>G | CA348714907 | ZEB2 | c.*498G>C (n.*498G>C) c.-129G>C (n.-129G>C) c.649G>C (p.Asp217His) n.618G>C c.313G>C (p.Asp105His) c.*366G>C (n.*366G>C) n.749G>C c.-133-5224G>C (n.-133-5224G>C) c.646G>C (p.Asp216His) c.733G>C (p.Asp245His) c.388G>C (p.Asp130His) c.736G>C (p.Asp246His) c.634G>C (p.Asp212His) n.595G>C c.577G>C (p.Asp193His) c.640G>C (p.Asp214His) c.628G>C (p.Asp210His) | |
2 | g.144404074C>T | CA1898430 | ZEB2 | c.*498G>A (n.*498G>A) c.-129G>A (n.-129G>A) c.649G>A (p.Asp217Asn) n.618G>A c.313G>A (p.Asp105Asn) c.*366G>A (n.*366G>A) n.749G>A c.-133-5224G>A (n.-133-5224G>A) c.646G>A (p.Asp216Asn) c.733G>A (p.Asp245Asn) c.388G>A (p.Asp130Asn) c.736G>A (p.Asp246Asn) c.634G>A (p.Asp212Asn) n.595G>A c.577G>A (p.Asp193Asn) c.640G>A (p.Asp214Asn) c.628G>A (p.Asp210Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.144404075G>A | CA429218618 | ZEB2 | c.*497C>T (n.*497C>T) c.-130C>T (n.-130C>T) c.648C>T (p.Cys216=) n.617C>T c.312C>T (p.Cys104=) c.*365C>T (n.*365C>T) n.748C>T c.-133-5225C>T (n.-133-5225C>T) c.645C>T (p.Cys215=) c.732C>T (p.Cys244=) c.387C>T (p.Cys129=) c.735C>T (p.Cys245=) c.633C>T (p.Cys211=) n.594C>T c.576C>T (p.Cys192=) c.639C>T (p.Cys213=) c.627C>T (p.Cys209=) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
2 | g.144404075G>C | CA348714908 | ZEB2 | c.*497C>G (n.*497C>G) c.-130C>G (n.-130C>G) c.648C>G (p.Cys216Trp) n.617C>G c.312C>G (p.Cys104Trp) c.*365C>G (n.*365C>G) n.748C>G c.-133-5225C>G (n.-133-5225C>G) c.645C>G (p.Cys215Trp) c.732C>G (p.Cys244Trp) c.387C>G (p.Cys129Trp) c.735C>G (p.Cys245Trp) c.633C>G (p.Cys211Trp) n.594C>G c.576C>G (p.Cys192Trp) c.639C>G (p.Cys213Trp) c.627C>G (p.Cys209Trp) | |
2 | g.144404075G= | CA1294887223 | ZEB2 | c.*497C= (n.*497C=) c.-130C= (n.-130C=) c.648C= (p.Cys216=) n.617C= c.312C= (p.Cys104=) c.*365C= (n.*365C=) n.748C= c.-133-5225C= (n.-133-5225C=) c.645C= (p.Cys215=) c.732C= (p.Cys244=) c.387C= (p.Cys129=) c.735C= (p.Cys245=) c.633C= (p.Cys211=) n.594C= c.576C= (p.Cys192=) c.639C= (p.Cys213=) c.627C= (p.Cys209=) | |
2 | g.144404075G>T | CA348714909 | ZEB2 | c.*497C>A (n.*497C>A) c.-130C>A (n.-130C>A) c.648C>A (p.Cys216Ter) n.617C>A c.312C>A (p.Cys104Ter) c.*365C>A (n.*365C>A) n.748C>A c.-133-5225C>A (n.-133-5225C>A) c.645C>A (p.Cys215Ter) c.732C>A (p.Cys244Ter) c.387C>A (p.Cys129Ter) c.735C>A (p.Cys245Ter) c.633C>A (p.Cys211Ter) n.594C>A c.576C>A (p.Cys192Ter) c.639C>A (p.Cys213Ter) c.627C>A (p.Cys209Ter) |