Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.144403988G>A | CA429218511 | ZEB2 | c.*584C>T (n.*584C>T) c.-43C>T (n.-43C>T) c.735C>T (p.Leu245=) n.704C>T c.399C>T (p.Leu133=) c.*452C>T (n.*452C>T) n.835C>T c.-133-5138C>T (n.-133-5138C>T) c.732C>T (p.Leu244=) c.819C>T (p.Leu273=) c.474C>T (p.Leu158=) c.822C>T (p.Leu274=) c.720C>T (p.Leu240=) c.663C>T (p.Leu221=) c.726C>T (p.Leu242=) c.714C>T (p.Leu238=) | COSMIC |
2 | g.144403988G>C | CA429218512 | ZEB2 | c.*584C>G (n.*584C>G) c.-43C>G (n.-43C>G) c.735C>G (p.Leu245=) n.704C>G c.399C>G (p.Leu133=) c.*452C>G (n.*452C>G) n.835C>G c.-133-5138C>G (n.-133-5138C>G) c.732C>G (p.Leu244=) c.819C>G (p.Leu273=) c.474C>G (p.Leu158=) c.822C>G (p.Leu274=) c.720C>G (p.Leu240=) c.663C>G (p.Leu221=) c.726C>G (p.Leu242=) c.714C>G (p.Leu238=) | dbSNP gnomAD v2 COSMIC |
2 | g.144403988G= | CA1294887190 | ZEB2 | c.*584C= (n.*584C=) c.-43C= (n.-43C=) c.735C= (p.Leu245=) n.704C= c.399C= (p.Leu133=) c.*452C= (n.*452C=) n.835C= c.-133-5138C= (n.-133-5138C=) c.732C= (p.Leu244=) c.819C= (p.Leu273=) c.474C= (p.Leu158=) c.822C= (p.Leu274=) c.720C= (p.Leu240=) c.663C= (p.Leu221=) c.726C= (p.Leu242=) c.714C= (p.Leu238=) | |
2 | g.144403988G>T | CA429218513 | ZEB2 | c.*584C>A (n.*584C>A) c.-43C>A (n.-43C>A) c.735C>A (p.Leu245=) n.704C>A c.399C>A (p.Leu133=) c.*452C>A (n.*452C>A) n.835C>A c.-133-5138C>A (n.-133-5138C>A) c.732C>A (p.Leu244=) c.819C>A (p.Leu273=) c.474C>A (p.Leu158=) c.822C>A (p.Leu274=) c.720C>A (p.Leu240=) c.663C>A (p.Leu221=) c.726C>A (p.Leu242=) c.714C>A (p.Leu238=) | |
2 | g.144403989A>C | CA348714711 | ZEB2 | c.*583T>G (n.*583T>G) c.-44T>G (n.-44T>G) c.734T>G (p.Leu245Arg) n.703T>G c.398T>G (p.Leu133Arg) c.*451T>G (n.*451T>G) n.834T>G c.-133-5139T>G (n.-133-5139T>G) c.731T>G (p.Leu244Arg) c.818T>G (p.Leu273Arg) c.473T>G (p.Leu158Arg) c.821T>G (p.Leu274Arg) c.719T>G (p.Leu240Arg) c.662T>G (p.Leu221Arg) c.725T>G (p.Leu242Arg) c.713T>G (p.Leu238Arg) | |
2 | g.144403989A>G | CA348714712 | ZEB2 | c.*583T>C (n.*583T>C) c.-44T>C (n.-44T>C) c.734T>C (p.Leu245Pro) n.703T>C c.398T>C (p.Leu133Pro) c.*451T>C (n.*451T>C) n.834T>C c.-133-5139T>C (n.-133-5139T>C) c.731T>C (p.Leu244Pro) c.818T>C (p.Leu273Pro) c.473T>C (p.Leu158Pro) c.821T>C (p.Leu274Pro) c.719T>C (p.Leu240Pro) c.662T>C (p.Leu221Pro) c.725T>C (p.Leu242Pro) c.713T>C (p.Leu238Pro) | COSMIC |
2 | g.144403989A>T | CA348714713 | ZEB2 | c.*583T>A (n.*583T>A) c.-44T>A (n.-44T>A) c.734T>A (p.Leu245His) n.703T>A c.398T>A (p.Leu133His) c.*451T>A (n.*451T>A) n.834T>A c.-133-5139T>A (n.-133-5139T>A) c.731T>A (p.Leu244His) c.818T>A (p.Leu273His) c.473T>A (p.Leu158His) c.821T>A (p.Leu274His) c.719T>A (p.Leu240His) c.662T>A (p.Leu221His) c.725T>A (p.Leu242His) c.713T>A (p.Leu238His) | |
2 | g.144403990G>A | CA348714714 | ZEB2 | c.*582C>T (n.*582C>T) c.-45C>T (n.-45C>T) c.733C>T (p.Leu245Phe) n.702C>T c.397C>T (p.Leu133Phe) c.*450C>T (n.*450C>T) n.833C>T c.-133-5140C>T (n.-133-5140C>T) c.730C>T (p.Leu244Phe) c.817C>T (p.Leu273Phe) c.472C>T (p.Leu158Phe) c.820C>T (p.Leu274Phe) c.718C>T (p.Leu240Phe) c.661C>T (p.Leu221Phe) c.724C>T (p.Leu242Phe) c.712C>T (p.Leu238Phe) | gnomAD v4 |
2 | g.144403990G>C | CA348714715 | ZEB2 | c.*582C>G (n.*582C>G) c.-45C>G (n.-45C>G) c.733C>G (p.Leu245Val) n.702C>G c.397C>G (p.Leu133Val) c.*450C>G (n.*450C>G) n.833C>G c.-133-5140C>G (n.-133-5140C>G) c.730C>G (p.Leu244Val) c.817C>G (p.Leu273Val) c.472C>G (p.Leu158Val) c.820C>G (p.Leu274Val) c.718C>G (p.Leu240Val) c.661C>G (p.Leu221Val) c.724C>G (p.Leu242Val) c.712C>G (p.Leu238Val) | |
2 | g.144403990G>T | CA348714716 | ZEB2 | c.*582C>A (n.*582C>A) c.-45C>A (n.-45C>A) c.733C>A (p.Leu245Ile) n.702C>A c.397C>A (p.Leu133Ile) c.*450C>A (n.*450C>A) n.833C>A c.-133-5140C>A (n.-133-5140C>A) c.730C>A (p.Leu244Ile) c.817C>A (p.Leu273Ile) c.472C>A (p.Leu158Ile) c.820C>A (p.Leu274Ile) c.718C>A (p.Leu240Ile) c.661C>A (p.Leu221Ile) c.724C>A (p.Leu242Ile) c.712C>A (p.Leu238Ile) | |
2 | g.144403991A= | CA1294887191 | ZEB2 | c.*581T= (n.*581T=) c.-46T= (n.-46T=) c.732T= (p.Pro244=) n.701T= c.396T= (p.Pro132=) c.*449T= (n.*449T=) n.832T= c.-133-5141T= (n.-133-5141T=) c.729T= (p.Pro243=) c.816T= (p.Pro272=) c.471T= (p.Pro157=) c.819T= (p.Pro273=) c.717T= (p.Pro239=) c.660T= (p.Pro220=) c.723T= (p.Pro241=) c.711T= (p.Pro237=) | |
2 | g.144403991A>C | CA429218515 | ZEB2 | c.*581T>G (n.*581T>G) c.-46T>G (n.-46T>G) c.732T>G (p.Pro244=) n.701T>G c.396T>G (p.Pro132=) c.*449T>G (n.*449T>G) n.832T>G c.-133-5141T>G (n.-133-5141T>G) c.729T>G (p.Pro243=) c.816T>G (p.Pro272=) c.471T>G (p.Pro157=) c.819T>G (p.Pro273=) c.717T>G (p.Pro239=) c.660T>G (p.Pro220=) c.723T>G (p.Pro241=) c.711T>G (p.Pro237=) | gnomAD v4 |
2 | g.144403991A>G | CA429218517 | ZEB2 | c.*581T>C (n.*581T>C) c.-46T>C (n.-46T>C) c.732T>C (p.Pro244=) n.701T>C c.396T>C (p.Pro132=) c.*449T>C (n.*449T>C) n.832T>C c.-133-5141T>C (n.-133-5141T>C) c.729T>C (p.Pro243=) c.816T>C (p.Pro272=) c.471T>C (p.Pro157=) c.819T>C (p.Pro273=) c.717T>C (p.Pro239=) c.660T>C (p.Pro220=) c.723T>C (p.Pro241=) c.711T>C (p.Pro237=) | ClinVar dbSNP |
2 | g.144403991A>T | CA429218516 | ZEB2 | c.*581T>A (n.*581T>A) c.-46T>A (n.-46T>A) c.732T>A (p.Pro244=) n.701T>A c.396T>A (p.Pro132=) c.*449T>A (n.*449T>A) n.832T>A c.-133-5141T>A (n.-133-5141T>A) c.729T>A (p.Pro243=) c.816T>A (p.Pro272=) c.471T>A (p.Pro157=) c.819T>A (p.Pro273=) c.717T>A (p.Pro239=) c.660T>A (p.Pro220=) c.723T>A (p.Pro241=) c.711T>A (p.Pro237=) | |
2 | g.144403992G>A | CA348714719 | ZEB2 | c.*580C>T (n.*580C>T) c.-47C>T (n.-47C>T) c.731C>T (p.Pro244Leu) n.700C>T c.395C>T (p.Pro132Leu) c.*448C>T (n.*448C>T) n.831C>T c.-133-5142C>T (n.-133-5142C>T) c.728C>T (p.Pro243Leu) c.815C>T (p.Pro272Leu) c.470C>T (p.Pro157Leu) c.818C>T (p.Pro273Leu) c.716C>T (p.Pro239Leu) c.659C>T (p.Pro220Leu) c.722C>T (p.Pro241Leu) c.710C>T (p.Pro237Leu) | gnomAD v4 |
2 | g.144403992G>C | CA348714717 | ZEB2 | c.*580C>G (n.*580C>G) c.-47C>G (n.-47C>G) c.731C>G (p.Pro244Arg) n.700C>G c.395C>G (p.Pro132Arg) c.*448C>G (n.*448C>G) n.831C>G c.-133-5142C>G (n.-133-5142C>G) c.728C>G (p.Pro243Arg) c.815C>G (p.Pro272Arg) c.470C>G (p.Pro157Arg) c.818C>G (p.Pro273Arg) c.716C>G (p.Pro239Arg) c.659C>G (p.Pro220Arg) c.722C>G (p.Pro241Arg) c.710C>G (p.Pro237Arg) | |
2 | g.144403992G>T | CA348714718 | ZEB2 | c.*580C>A (n.*580C>A) c.-47C>A (n.-47C>A) c.731C>A (p.Pro244His) n.700C>A c.395C>A (p.Pro132His) c.*448C>A (n.*448C>A) n.831C>A c.-133-5142C>A (n.-133-5142C>A) c.728C>A (p.Pro243His) c.815C>A (p.Pro272His) c.470C>A (p.Pro157His) c.818C>A (p.Pro273His) c.716C>A (p.Pro239His) c.659C>A (p.Pro220His) c.722C>A (p.Pro241His) c.710C>A (p.Pro237His) | |
2 | g.144403993G>A | CA297589 | ZEB2 | c.*579C>T (n.*579C>T) c.-48C>T (n.-48C>T) c.730C>T (p.Pro244Ser) n.699C>T c.394C>T (p.Pro132Ser) c.*447C>T (n.*447C>T) n.830C>T c.-133-5143C>T (n.-133-5143C>T) c.727C>T (p.Pro243Ser) c.814C>T (p.Pro272Ser) c.469C>T (p.Pro157Ser) c.817C>T (p.Pro273Ser) c.715C>T (p.Pro239Ser) c.658C>T (p.Pro220Ser) c.721C>T (p.Pro241Ser) c.709C>T (p.Pro237Ser) | ClinVar dbSNP gnomAD v4 |
2 | g.144403993G>C | CA348714720 | ZEB2 | c.*579C>G (n.*579C>G) c.-48C>G (n.-48C>G) c.730C>G (p.Pro244Ala) n.699C>G c.394C>G (p.Pro132Ala) c.*447C>G (n.*447C>G) n.830C>G c.-133-5143C>G (n.-133-5143C>G) c.727C>G (p.Pro243Ala) c.814C>G (p.Pro272Ala) c.469C>G (p.Pro157Ala) c.817C>G (p.Pro273Ala) c.715C>G (p.Pro239Ala) c.658C>G (p.Pro220Ala) c.721C>G (p.Pro241Ala) c.709C>G (p.Pro237Ala) | |
2 | g.144403993G= | CA1294887192 | ZEB2 | c.*579C= (n.*579C=) c.-48C= (n.-48C=) c.730C= (p.Pro244=) n.699C= c.394C= (p.Pro132=) c.*447C= (n.*447C=) n.830C= c.-133-5143C= (n.-133-5143C=) c.727C= (p.Pro243=) c.814C= (p.Pro272=) c.469C= (p.Pro157=) c.817C= (p.Pro273=) c.715C= (p.Pro239=) c.658C= (p.Pro220=) c.721C= (p.Pro241=) c.709C= (p.Pro237=) | |
2 | g.144403993G>T | CA348714721 | ZEB2 | c.*579C>A (n.*579C>A) c.-48C>A (n.-48C>A) c.730C>A (p.Pro244Thr) n.699C>A c.394C>A (p.Pro132Thr) c.*447C>A (n.*447C>A) n.830C>A c.-133-5143C>A (n.-133-5143C>A) c.727C>A (p.Pro243Thr) c.814C>A (p.Pro272Thr) c.469C>A (p.Pro157Thr) c.817C>A (p.Pro273Thr) c.715C>A (p.Pro239Thr) c.658C>A (p.Pro220Thr) c.721C>A (p.Pro241Thr) c.709C>A (p.Pro237Thr) | |
2 | g.144403994G>A | CA429218519 | ZEB2 | c.*578C>T (n.*578C>T) c.-49C>T (n.-49C>T) c.729C>T (p.Cys243=) n.698C>T c.393C>T (p.Cys131=) c.*446C>T (n.*446C>T) n.829C>T c.-133-5144C>T (n.-133-5144C>T) c.726C>T (p.Cys242=) c.813C>T (p.Cys271=) c.468C>T (p.Cys156=) c.816C>T (p.Cys272=) c.714C>T (p.Cys238=) c.657C>T (p.Cys219=) c.720C>T (p.Cys240=) c.708C>T (p.Cys236=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.144403994G>C | CA348714722 | ZEB2 | c.*578C>G (n.*578C>G) c.-49C>G (n.-49C>G) c.729C>G (p.Cys243Trp) n.698C>G c.393C>G (p.Cys131Trp) c.*446C>G (n.*446C>G) n.829C>G c.-133-5144C>G (n.-133-5144C>G) c.726C>G (p.Cys242Trp) c.813C>G (p.Cys271Trp) c.468C>G (p.Cys156Trp) c.816C>G (p.Cys272Trp) c.714C>G (p.Cys238Trp) c.657C>G (p.Cys219Trp) c.720C>G (p.Cys240Trp) c.708C>G (p.Cys236Trp) | |
2 | g.144403994G= | CA1294887193 | ZEB2 | c.*578C= (n.*578C=) c.-49C= (n.-49C=) c.729C= (p.Cys243=) n.698C= c.393C= (p.Cys131=) c.*446C= (n.*446C=) n.829C= c.-133-5144C= (n.-133-5144C=) c.726C= (p.Cys242=) c.813C= (p.Cys271=) c.468C= (p.Cys156=) c.816C= (p.Cys272=) c.714C= (p.Cys238=) c.657C= (p.Cys219=) c.720C= (p.Cys240=) c.708C= (p.Cys236=) | |
2 | g.144403994G>T | CA348714723 | ZEB2 | c.*578C>A (n.*578C>A) c.-49C>A (n.-49C>A) c.729C>A (p.Cys243Ter) n.698C>A c.393C>A (p.Cys131Ter) c.*446C>A (n.*446C>A) n.829C>A c.-133-5144C>A (n.-133-5144C>A) c.726C>A (p.Cys242Ter) c.813C>A (p.Cys271Ter) c.468C>A (p.Cys156Ter) c.816C>A (p.Cys272Ter) c.714C>A (p.Cys238Ter) c.657C>A (p.Cys219Ter) c.720C>A (p.Cys240Ter) c.708C>A (p.Cys236Ter) | |
2 | g.144403995C>A | CA348714724 | ZEB2 | c.*577G>T (n.*577G>T) c.-50G>T (n.-50G>T) c.728G>T (p.Cys243Phe) n.697G>T c.392G>T (p.Cys131Phe) c.*445G>T (n.*445G>T) n.828G>T c.-133-5145G>T (n.-133-5145G>T) c.725G>T (p.Cys242Phe) c.812G>T (p.Cys271Phe) c.467G>T (p.Cys156Phe) c.815G>T (p.Cys272Phe) c.713G>T (p.Cys238Phe) n.674G>T c.656G>T (p.Cys219Phe) c.719G>T (p.Cys240Phe) c.707G>T (p.Cys236Phe) | COSMIC |
2 | g.144403995C>G | CA348714726 | ZEB2 | c.*577G>C (n.*577G>C) c.-50G>C (n.-50G>C) c.728G>C (p.Cys243Ser) n.697G>C c.392G>C (p.Cys131Ser) c.*445G>C (n.*445G>C) n.828G>C c.-133-5145G>C (n.-133-5145G>C) c.725G>C (p.Cys242Ser) c.812G>C (p.Cys271Ser) c.467G>C (p.Cys156Ser) c.815G>C (p.Cys272Ser) c.713G>C (p.Cys238Ser) n.674G>C c.656G>C (p.Cys219Ser) c.719G>C (p.Cys240Ser) c.707G>C (p.Cys236Ser) | |
2 | g.144403995C>T | CA348714725 | ZEB2 | c.*577G>A (n.*577G>A) c.-50G>A (n.-50G>A) c.728G>A (p.Cys243Tyr) n.697G>A c.392G>A (p.Cys131Tyr) c.*445G>A (n.*445G>A) n.828G>A c.-133-5145G>A (n.-133-5145G>A) c.725G>A (p.Cys242Tyr) c.812G>A (p.Cys271Tyr) c.467G>A (p.Cys156Tyr) c.815G>A (p.Cys272Tyr) c.713G>A (p.Cys238Tyr) n.674G>A c.656G>A (p.Cys219Tyr) c.719G>A (p.Cys240Tyr) c.707G>A (p.Cys236Tyr) | |
2 | g.144403996A>C | CA348714727 | ZEB2 | c.*576T>G (n.*576T>G) c.-51T>G (n.-51T>G) c.727T>G (p.Cys243Gly) n.696T>G c.391T>G (p.Cys131Gly) c.*444T>G (n.*444T>G) n.827T>G c.-133-5146T>G (n.-133-5146T>G) c.724T>G (p.Cys242Gly) c.811T>G (p.Cys271Gly) c.466T>G (p.Cys156Gly) c.814T>G (p.Cys272Gly) c.712T>G (p.Cys238Gly) n.673T>G c.655T>G (p.Cys219Gly) c.718T>G (p.Cys240Gly) c.706T>G (p.Cys236Gly) | |
2 | g.144403996A>G | CA348714728 | ZEB2 | c.*576T>C (n.*576T>C) c.-51T>C (n.-51T>C) c.727T>C (p.Cys243Arg) n.696T>C c.391T>C (p.Cys131Arg) c.*444T>C (n.*444T>C) n.827T>C c.-133-5146T>C (n.-133-5146T>C) c.724T>C (p.Cys242Arg) c.811T>C (p.Cys271Arg) c.466T>C (p.Cys156Arg) c.814T>C (p.Cys272Arg) c.712T>C (p.Cys238Arg) n.673T>C c.655T>C (p.Cys219Arg) c.718T>C (p.Cys240Arg) c.706T>C (p.Cys236Arg) | |
2 | g.144403996A>T | CA348714729 | ZEB2 | c.*576T>A (n.*576T>A) c.-51T>A (n.-51T>A) c.727T>A (p.Cys243Ser) n.696T>A c.391T>A (p.Cys131Ser) c.*444T>A (n.*444T>A) n.827T>A c.-133-5146T>A (n.-133-5146T>A) c.724T>A (p.Cys242Ser) c.811T>A (p.Cys271Ser) c.466T>A (p.Cys156Ser) c.814T>A (p.Cys272Ser) c.712T>A (p.Cys238Ser) n.673T>A c.655T>A (p.Cys219Ser) c.718T>A (p.Cys240Ser) c.706T>A (p.Cys236Ser) | |
2 | g.144403997G>A | CA57561777 | ZEB2 | c.*575C>T (n.*575C>T) c.-52C>T (n.-52C>T) c.726C>T (p.Ser242=) n.695C>T c.390C>T (p.Ser130=) c.*443C>T (n.*443C>T) n.826C>T c.-133-5147C>T (n.-133-5147C>T) c.723C>T (p.Ser241=) c.810C>T (p.Ser270=) c.465C>T (p.Ser155=) c.813C>T (p.Ser271=) c.711C>T (p.Ser237=) n.672C>T c.654C>T (p.Ser218=) c.717C>T (p.Ser239=) c.705C>T (p.Ser235=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.144403997G>C | CA429218522 | ZEB2 | c.*575C>G (n.*575C>G) c.-52C>G (n.-52C>G) c.726C>G (p.Ser242=) n.695C>G c.390C>G (p.Ser130=) c.*443C>G (n.*443C>G) n.826C>G c.-133-5147C>G (n.-133-5147C>G) c.723C>G (p.Ser241=) c.810C>G (p.Ser270=) c.465C>G (p.Ser155=) c.813C>G (p.Ser271=) c.711C>G (p.Ser237=) n.672C>G c.654C>G (p.Ser218=) c.717C>G (p.Ser239=) c.705C>G (p.Ser235=) | |
2 | g.144403997G= | CA1294887194 | ZEB2 | c.*575C= (n.*575C=) c.-52C= (n.-52C=) c.726C= (p.Ser242=) n.695C= c.390C= (p.Ser130=) c.*443C= (n.*443C=) n.826C= c.-133-5147C= (n.-133-5147C=) c.723C= (p.Ser241=) c.810C= (p.Ser270=) c.465C= (p.Ser155=) c.813C= (p.Ser271=) c.711C= (p.Ser237=) n.672C= c.654C= (p.Ser218=) c.717C= (p.Ser239=) c.705C= (p.Ser235=) | |
2 | g.144403997G>T | CA429218520 | ZEB2 | c.*575C>A (n.*575C>A) c.-52C>A (n.-52C>A) c.726C>A (p.Ser242=) n.695C>A c.390C>A (p.Ser130=) c.*443C>A (n.*443C>A) n.826C>A c.-133-5147C>A (n.-133-5147C>A) c.723C>A (p.Ser241=) c.810C>A (p.Ser270=) c.465C>A (p.Ser155=) c.813C>A (p.Ser271=) c.711C>A (p.Ser237=) n.672C>A c.654C>A (p.Ser218=) c.717C>A (p.Ser239=) c.705C>A (p.Ser235=) | ClinVar |
2 | g.144403998G>A | CA348714730 | ZEB2 | c.*574C>T (n.*574C>T) c.-53C>T (n.-53C>T) c.725C>T (p.Ser242Phe) n.694C>T c.389C>T (p.Ser130Phe) c.*442C>T (n.*442C>T) n.825C>T c.-133-5148C>T (n.-133-5148C>T) c.722C>T (p.Ser241Phe) c.809C>T (p.Ser270Phe) c.464C>T (p.Ser155Phe) c.812C>T (p.Ser271Phe) c.710C>T (p.Ser237Phe) n.671C>T c.653C>T (p.Ser218Phe) c.716C>T (p.Ser239Phe) c.704C>T (p.Ser235Phe) | ClinVar dbSNP gnomAD v4 COSMIC |
2 | g.144403998G>C | CA348714731 | ZEB2 | c.*574C>G (n.*574C>G) c.-53C>G (n.-53C>G) c.725C>G (p.Ser242Cys) n.694C>G c.389C>G (p.Ser130Cys) c.*442C>G (n.*442C>G) n.825C>G c.-133-5148C>G (n.-133-5148C>G) c.722C>G (p.Ser241Cys) c.809C>G (p.Ser270Cys) c.464C>G (p.Ser155Cys) c.812C>G (p.Ser271Cys) c.710C>G (p.Ser237Cys) n.671C>G c.653C>G (p.Ser218Cys) c.716C>G (p.Ser239Cys) c.704C>G (p.Ser235Cys) | |
2 | g.144403998G= | CA1294887195 | ZEB2 | c.*574C= (n.*574C=) c.-53C= (n.-53C=) c.725C= (p.Ser242=) n.694C= c.389C= (p.Ser130=) c.*442C= (n.*442C=) n.825C= c.-133-5148C= (n.-133-5148C=) c.722C= (p.Ser241=) c.809C= (p.Ser270=) c.464C= (p.Ser155=) c.812C= (p.Ser271=) c.710C= (p.Ser237=) n.671C= c.653C= (p.Ser218=) c.716C= (p.Ser239=) c.704C= (p.Ser235=) | |
2 | g.144403998G>T | CA348714732 | ZEB2 | c.*574C>A (n.*574C>A) c.-53C>A (n.-53C>A) c.725C>A (p.Ser242Tyr) n.694C>A c.389C>A (p.Ser130Tyr) c.*442C>A (n.*442C>A) n.825C>A c.-133-5148C>A (n.-133-5148C>A) c.722C>A (p.Ser241Tyr) c.809C>A (p.Ser270Tyr) c.464C>A (p.Ser155Tyr) c.812C>A (p.Ser271Tyr) c.710C>A (p.Ser237Tyr) n.671C>A c.653C>A (p.Ser218Tyr) c.716C>A (p.Ser239Tyr) c.704C>A (p.Ser235Tyr) | |
2 | g.144403999A= | CA1294887196 | ZEB2 | c.*573T= (n.*573T=) c.-54T= (n.-54T=) c.724T= (p.Ser242=) n.693T= c.388T= (p.Ser130=) c.*441T= (n.*441T=) n.824T= c.-133-5149T= (n.-133-5149T=) c.721T= (p.Ser241=) c.808T= (p.Ser270=) c.463T= (p.Ser155=) c.811T= (p.Ser271=) c.709T= (p.Ser237=) n.670T= c.652T= (p.Ser218=) c.715T= (p.Ser239=) c.703T= (p.Ser235=) | |
2 | g.144403999A>C | CA348714733 | ZEB2 | c.*573T>G (n.*573T>G) c.-54T>G (n.-54T>G) c.724T>G (p.Ser242Ala) n.693T>G c.388T>G (p.Ser130Ala) c.*441T>G (n.*441T>G) n.824T>G c.-133-5149T>G (n.-133-5149T>G) c.721T>G (p.Ser241Ala) c.808T>G (p.Ser270Ala) c.463T>G (p.Ser155Ala) c.811T>G (p.Ser271Ala) c.709T>G (p.Ser237Ala) n.670T>G c.652T>G (p.Ser218Ala) c.715T>G (p.Ser239Ala) c.703T>G (p.Ser235Ala) | |
2 | g.144403999A>G | CA348714734 | ZEB2 | c.*573T>C (n.*573T>C) c.-54T>C (n.-54T>C) c.724T>C (p.Ser242Pro) n.693T>C c.388T>C (p.Ser130Pro) c.*441T>C (n.*441T>C) n.824T>C c.-133-5149T>C (n.-133-5149T>C) c.721T>C (p.Ser241Pro) c.808T>C (p.Ser270Pro) c.463T>C (p.Ser155Pro) c.811T>C (p.Ser271Pro) c.709T>C (p.Ser237Pro) n.670T>C c.652T>C (p.Ser218Pro) c.715T>C (p.Ser239Pro) c.703T>C (p.Ser235Pro) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.144403999A>T | CA348714735 | ZEB2 | c.*573T>A (n.*573T>A) c.-54T>A (n.-54T>A) c.724T>A (p.Ser242Thr) n.693T>A c.388T>A (p.Ser130Thr) c.*441T>A (n.*441T>A) n.824T>A c.-133-5149T>A (n.-133-5149T>A) c.721T>A (p.Ser241Thr) c.808T>A (p.Ser270Thr) c.463T>A (p.Ser155Thr) c.811T>A (p.Ser271Thr) c.709T>A (p.Ser237Thr) n.670T>A c.652T>A (p.Ser218Thr) c.715T>A (p.Ser239Thr) c.703T>A (p.Ser235Thr) | |
2 | g.144404000A>C | CA348714736 | ZEB2 | c.*572T>G (n.*572T>G) c.-55T>G (n.-55T>G) c.723T>G (p.Phe241Leu) n.692T>G c.387T>G (p.Phe129Leu) c.*440T>G (n.*440T>G) n.823T>G c.-133-5150T>G (n.-133-5150T>G) c.720T>G (p.Phe240Leu) c.807T>G (p.Phe269Leu) c.462T>G (p.Phe154Leu) c.810T>G (p.Phe270Leu) c.708T>G (p.Phe236Leu) n.669T>G c.651T>G (p.Phe217Leu) c.714T>G (p.Phe238Leu) c.702T>G (p.Phe234Leu) | |
2 | g.144404000A>G | CA429218523 | ZEB2 | c.*572T>C (n.*572T>C) c.-55T>C (n.-55T>C) c.723T>C (p.Phe241=) n.692T>C c.387T>C (p.Phe129=) c.*440T>C (n.*440T>C) n.823T>C c.-133-5150T>C (n.-133-5150T>C) c.720T>C (p.Phe240=) c.807T>C (p.Phe269=) c.462T>C (p.Phe154=) c.810T>C (p.Phe270=) c.708T>C (p.Phe236=) n.669T>C c.651T>C (p.Phe217=) c.714T>C (p.Phe238=) c.702T>C (p.Phe234=) | ClinVar |
2 | g.144404000A>T | CA348714737 | ZEB2 | c.*572T>A (n.*572T>A) c.-55T>A (n.-55T>A) c.723T>A (p.Phe241Leu) n.692T>A c.387T>A (p.Phe129Leu) c.*440T>A (n.*440T>A) n.823T>A c.-133-5150T>A (n.-133-5150T>A) c.720T>A (p.Phe240Leu) c.807T>A (p.Phe269Leu) c.462T>A (p.Phe154Leu) c.810T>A (p.Phe270Leu) c.708T>A (p.Phe236Leu) n.669T>A c.651T>A (p.Phe217Leu) c.714T>A (p.Phe238Leu) c.702T>A (p.Phe234Leu) | |
2 | g.144404001A>C | CA348714740 | ZEB2 | c.*571T>G (n.*571T>G) c.-56T>G (n.-56T>G) c.722T>G (p.Phe241Cys) n.691T>G c.386T>G (p.Phe129Cys) c.*439T>G (n.*439T>G) n.822T>G c.-133-5151T>G (n.-133-5151T>G) c.719T>G (p.Phe240Cys) c.806T>G (p.Phe269Cys) c.461T>G (p.Phe154Cys) c.809T>G (p.Phe270Cys) c.707T>G (p.Phe236Cys) n.668T>G c.650T>G (p.Phe217Cys) c.713T>G (p.Phe238Cys) c.701T>G (p.Phe234Cys) | |
2 | g.144404001A>G | CA348714739 | ZEB2 | c.*571T>C (n.*571T>C) c.-56T>C (n.-56T>C) c.722T>C (p.Phe241Ser) n.691T>C c.386T>C (p.Phe129Ser) c.*439T>C (n.*439T>C) n.822T>C c.-133-5151T>C (n.-133-5151T>C) c.719T>C (p.Phe240Ser) c.806T>C (p.Phe269Ser) c.461T>C (p.Phe154Ser) c.809T>C (p.Phe270Ser) c.707T>C (p.Phe236Ser) n.668T>C c.650T>C (p.Phe217Ser) c.713T>C (p.Phe238Ser) c.701T>C (p.Phe234Ser) | |
2 | g.144404001A>T | CA348714738 | ZEB2 | c.*571T>A (n.*571T>A) c.-56T>A (n.-56T>A) c.722T>A (p.Phe241Tyr) n.691T>A c.386T>A (p.Phe129Tyr) c.*439T>A (n.*439T>A) n.822T>A c.-133-5151T>A (n.-133-5151T>A) c.719T>A (p.Phe240Tyr) c.806T>A (p.Phe269Tyr) c.461T>A (p.Phe154Tyr) c.809T>A (p.Phe270Tyr) c.707T>A (p.Phe236Tyr) n.668T>A c.650T>A (p.Phe217Tyr) c.713T>A (p.Phe238Tyr) c.701T>A (p.Phe234Tyr) | |
2 | g.144404002A>C | CA348714741 | ZEB2 | c.*570T>G (n.*570T>G) c.-57T>G (n.-57T>G) c.721T>G (p.Phe241Val) n.690T>G c.385T>G (p.Phe129Val) c.*438T>G (n.*438T>G) n.821T>G c.-133-5152T>G (n.-133-5152T>G) c.718T>G (p.Phe240Val) c.805T>G (p.Phe269Val) c.460T>G (p.Phe154Val) c.808T>G (p.Phe270Val) c.706T>G (p.Phe236Val) n.667T>G c.649T>G (p.Phe217Val) c.712T>G (p.Phe238Val) c.700T>G (p.Phe234Val) | |
2 | g.144404002A>G | CA348714742 | ZEB2 | c.*570T>C (n.*570T>C) c.-57T>C (n.-57T>C) c.721T>C (p.Phe241Leu) n.690T>C c.385T>C (p.Phe129Leu) c.*438T>C (n.*438T>C) n.821T>C c.-133-5152T>C (n.-133-5152T>C) c.718T>C (p.Phe240Leu) c.805T>C (p.Phe269Leu) c.460T>C (p.Phe154Leu) c.808T>C (p.Phe270Leu) c.706T>C (p.Phe236Leu) n.667T>C c.649T>C (p.Phe217Leu) c.712T>C (p.Phe238Leu) c.700T>C (p.Phe234Leu) | |
2 | g.144404002A>T | CA348714743 | ZEB2 | c.*570T>A (n.*570T>A) c.-57T>A (n.-57T>A) c.721T>A (p.Phe241Ile) n.690T>A c.385T>A (p.Phe129Ile) c.*438T>A (n.*438T>A) n.821T>A c.-133-5152T>A (n.-133-5152T>A) c.718T>A (p.Phe240Ile) c.805T>A (p.Phe269Ile) c.460T>A (p.Phe154Ile) c.808T>A (p.Phe270Ile) c.706T>A (p.Phe236Ile) n.667T>A c.649T>A (p.Phe217Ile) c.712T>A (p.Phe238Ile) c.700T>A (p.Phe234Ile) | |
2 | g.144404003_144404034del | CA2586965034 | ZEB2 | c.*539_*570del (n.*539_*570del) c.-88_-57del (n.-88_-57del) c.690_721del (p.Lys231PhefsTer6) n.659_690del c.354_385del (p.Lys119PhefsTer6) c.*407_*438del (n.*407_*438del) n.790_821del c.-133-5183_-133-5152del (n.-133-5183_-133-5152del) c.687_718del (p.Lys230PhefsTer6) c.774_805del (p.Lys259PhefsTer6) c.429_460del (p.Lys144PhefsTer6) c.777_808del (p.Lys260PhefsTer6) c.675_706del (p.Lys226PhefsTer6) n.636_667del c.618_649del (p.Lys207PhefsTer6) c.681_712del (p.Lys228PhefsTer6) c.669_700del (p.Lys224PhefsTer6) | |
2 | g.144404003G>A | CA57561787 | ZEB2 | c.*569C>T (n.*569C>T) c.-58C>T (n.-58C>T) c.720C>T (p.Asn240=) n.689C>T c.384C>T (p.Asn128=) c.*437C>T (n.*437C>T) n.820C>T c.-133-5153C>T (n.-133-5153C>T) c.717C>T (p.Asn239=) c.804C>T (p.Asn268=) c.459C>T (p.Asn153=) c.807C>T (p.Asn269=) c.705C>T (p.Asn235=) n.666C>T c.648C>T (p.Asn216=) c.711C>T (p.Asn237=) c.699C>T (p.Asn233=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.144404003G>C | CA348714744 | ZEB2 | c.*569C>G (n.*569C>G) c.-58C>G (n.-58C>G) c.720C>G (p.Asn240Lys) n.689C>G c.384C>G (p.Asn128Lys) c.*437C>G (n.*437C>G) n.820C>G c.-133-5153C>G (n.-133-5153C>G) c.717C>G (p.Asn239Lys) c.804C>G (p.Asn268Lys) c.459C>G (p.Asn153Lys) c.807C>G (p.Asn269Lys) c.705C>G (p.Asn235Lys) n.666C>G c.648C>G (p.Asn216Lys) c.711C>G (p.Asn237Lys) c.699C>G (p.Asn233Lys) | |
2 | g.144404003G= | CA1294887197 | ZEB2 | c.*569C= (n.*569C=) c.-58C= (n.-58C=) c.720C= (p.Asn240=) n.689C= c.384C= (p.Asn128=) c.*437C= (n.*437C=) n.820C= c.-133-5153C= (n.-133-5153C=) c.717C= (p.Asn239=) c.804C= (p.Asn268=) c.459C= (p.Asn153=) c.807C= (p.Asn269=) c.705C= (p.Asn235=) n.666C= c.648C= (p.Asn216=) c.711C= (p.Asn237=) c.699C= (p.Asn233=) | |
2 | g.144404003G>T | CA348714745 | ZEB2 | c.*569C>A (n.*569C>A) c.-58C>A (n.-58C>A) c.720C>A (p.Asn240Lys) n.689C>A c.384C>A (p.Asn128Lys) c.*437C>A (n.*437C>A) n.820C>A c.-133-5153C>A (n.-133-5153C>A) c.717C>A (p.Asn239Lys) c.804C>A (p.Asn268Lys) c.459C>A (p.Asn153Lys) c.807C>A (p.Asn269Lys) c.705C>A (p.Asn235Lys) n.666C>A c.648C>A (p.Asn216Lys) c.711C>A (p.Asn237Lys) c.699C>A (p.Asn233Lys) | |
2 | g.144404004T>A | CA348714746 | ZEB2 | c.*568A>T (n.*568A>T) c.-59A>T (n.-59A>T) c.719A>T (p.Asn240Ile) n.688A>T c.383A>T (p.Asn128Ile) c.*436A>T (n.*436A>T) n.819A>T c.-133-5154A>T (n.-133-5154A>T) c.716A>T (p.Asn239Ile) c.803A>T (p.Asn268Ile) c.458A>T (p.Asn153Ile) c.806A>T (p.Asn269Ile) c.704A>T (p.Asn235Ile) n.665A>T c.647A>T (p.Asn216Ile) c.710A>T (p.Asn237Ile) c.698A>T (p.Asn233Ile) | |
2 | g.144404004T>C | CA348714747 | ZEB2 | c.*568A>G (n.*568A>G) c.-59A>G (n.-59A>G) c.719A>G (p.Asn240Ser) n.688A>G c.383A>G (p.Asn128Ser) c.*436A>G (n.*436A>G) n.819A>G c.-133-5154A>G (n.-133-5154A>G) c.716A>G (p.Asn239Ser) c.803A>G (p.Asn268Ser) c.458A>G (p.Asn153Ser) c.806A>G (p.Asn269Ser) c.704A>G (p.Asn235Ser) n.665A>G c.647A>G (p.Asn216Ser) c.710A>G (p.Asn237Ser) c.698A>G (p.Asn233Ser) | COSMIC |
2 | g.144404004T>G | CA348714748 | ZEB2 | c.*568A>C (n.*568A>C) c.-59A>C (n.-59A>C) c.719A>C (p.Asn240Thr) n.688A>C c.383A>C (p.Asn128Thr) c.*436A>C (n.*436A>C) n.819A>C c.-133-5154A>C (n.-133-5154A>C) c.716A>C (p.Asn239Thr) c.803A>C (p.Asn268Thr) c.458A>C (p.Asn153Thr) c.806A>C (p.Asn269Thr) c.704A>C (p.Asn235Thr) n.665A>C c.647A>C (p.Asn216Thr) c.710A>C (p.Asn237Thr) c.698A>C (p.Asn233Thr) | |
2 | g.144404005T>A | CA348714749 | ZEB2 | c.*567A>T (n.*567A>T) c.-60A>T (n.-60A>T) c.718A>T (p.Asn240Tyr) n.687A>T c.382A>T (p.Asn128Tyr) c.*435A>T (n.*435A>T) n.818A>T c.-133-5155A>T (n.-133-5155A>T) c.715A>T (p.Asn239Tyr) c.802A>T (p.Asn268Tyr) c.457A>T (p.Asn153Tyr) c.805A>T (p.Asn269Tyr) c.703A>T (p.Asn235Tyr) n.664A>T c.646A>T (p.Asn216Tyr) c.709A>T (p.Asn237Tyr) c.697A>T (p.Asn233Tyr) | |
2 | g.144404005T>C | CA348714750 | ZEB2 | c.*567A>G (n.*567A>G) c.-60A>G (n.-60A>G) c.718A>G (p.Asn240Asp) n.687A>G c.382A>G (p.Asn128Asp) c.*435A>G (n.*435A>G) n.818A>G c.-133-5155A>G (n.-133-5155A>G) c.715A>G (p.Asn239Asp) c.802A>G (p.Asn268Asp) c.457A>G (p.Asn153Asp) c.805A>G (p.Asn269Asp) c.703A>G (p.Asn235Asp) n.664A>G c.646A>G (p.Asn216Asp) c.709A>G (p.Asn237Asp) c.697A>G (p.Asn233Asp) | |
2 | g.144404005T>G | CA348714751 | ZEB2 | c.*567A>C (n.*567A>C) c.-60A>C (n.-60A>C) c.718A>C (p.Asn240His) n.687A>C c.382A>C (p.Asn128His) c.*435A>C (n.*435A>C) n.818A>C c.-133-5155A>C (n.-133-5155A>C) c.715A>C (p.Asn239His) c.802A>C (p.Asn268His) c.457A>C (p.Asn153His) c.805A>C (p.Asn269His) c.703A>C (p.Asn235His) n.664A>C c.646A>C (p.Asn216His) c.709A>C (p.Asn237His) c.697A>C (p.Asn233His) | gnomAD v4 |
2 | g.144404006C>A | CA348714752 | ZEB2 | c.*566G>T (n.*566G>T) c.-61G>T (n.-61G>T) c.717G>T (p.Glu239Asp) n.686G>T c.381G>T (p.Glu127Asp) c.*434G>T (n.*434G>T) n.817G>T c.-133-5156G>T (n.-133-5156G>T) c.714G>T (p.Glu238Asp) c.801G>T (p.Glu267Asp) c.456G>T (p.Glu152Asp) c.804G>T (p.Glu268Asp) c.702G>T (p.Glu234Asp) n.663G>T c.645G>T (p.Glu215Asp) c.708G>T (p.Glu236Asp) c.696G>T (p.Glu232Asp) | gnomAD v4 COSMIC |
2 | g.144404006C>G | CA348714753 | ZEB2 | c.*566G>C (n.*566G>C) c.-61G>C (n.-61G>C) c.717G>C (p.Glu239Asp) n.686G>C c.381G>C (p.Glu127Asp) c.*434G>C (n.*434G>C) n.817G>C c.-133-5156G>C (n.-133-5156G>C) c.714G>C (p.Glu238Asp) c.801G>C (p.Glu267Asp) c.456G>C (p.Glu152Asp) c.804G>C (p.Glu268Asp) c.702G>C (p.Glu234Asp) n.663G>C c.645G>C (p.Glu215Asp) c.708G>C (p.Glu236Asp) c.696G>C (p.Glu232Asp) | COSMIC |
2 | g.144404006C>T | CA429218527 | ZEB2 | c.*566G>A (n.*566G>A) c.-61G>A (n.-61G>A) c.717G>A (p.Glu239=) n.686G>A c.381G>A (p.Glu127=) c.*434G>A (n.*434G>A) n.817G>A c.-133-5156G>A (n.-133-5156G>A) c.714G>A (p.Glu238=) c.801G>A (p.Glu267=) c.456G>A (p.Glu152=) c.804G>A (p.Glu268=) c.702G>A (p.Glu234=) n.663G>A c.645G>A (p.Glu215=) c.708G>A (p.Glu236=) c.696G>A (p.Glu232=) | |
2 | g.144404007del | CA2586965035 | ZEB2 | c.*565del (n.*565del) c.-62del (n.-62del) c.716del (p.Glu239GlyfsTer23) n.685del c.380del (p.Glu127GlyfsTer23) c.*433del (n.*433del) n.816del c.-133-5157del (n.-133-5157del) c.713del (p.Glu238GlyfsTer23) c.800del (p.Glu267GlyfsTer23) c.455del (p.Glu152GlyfsTer23) c.803del (p.Glu268GlyfsTer23) c.701del (p.Glu234GlyfsTer23) n.662del c.644del (p.Glu215GlyfsTer23) c.707del (p.Glu236GlyfsTer23) c.695del (p.Glu232GlyfsTer23) | |
2 | g.144404007T>A | CA348714756 | ZEB2 | c.*565A>T (n.*565A>T) c.-62A>T (n.-62A>T) c.716A>T (p.Glu239Val) n.685A>T c.380A>T (p.Glu127Val) c.*433A>T (n.*433A>T) n.816A>T c.-133-5157A>T (n.-133-5157A>T) c.713A>T (p.Glu238Val) c.800A>T (p.Glu267Val) c.455A>T (p.Glu152Val) c.803A>T (p.Glu268Val) c.701A>T (p.Glu234Val) n.662A>T c.644A>T (p.Glu215Val) c.707A>T (p.Glu236Val) c.695A>T (p.Glu232Val) | |
2 | g.144404007T>C | CA348714755 | ZEB2 | c.*565A>G (n.*565A>G) c.-62A>G (n.-62A>G) c.716A>G (p.Glu239Gly) n.685A>G c.380A>G (p.Glu127Gly) c.*433A>G (n.*433A>G) n.816A>G c.-133-5157A>G (n.-133-5157A>G) c.713A>G (p.Glu238Gly) c.800A>G (p.Glu267Gly) c.455A>G (p.Glu152Gly) c.803A>G (p.Glu268Gly) c.701A>G (p.Glu234Gly) n.662A>G c.644A>G (p.Glu215Gly) c.707A>G (p.Glu236Gly) c.695A>G (p.Glu232Gly) | |
2 | g.144404007T>G | CA348714754 | ZEB2 | c.*565A>C (n.*565A>C) c.-62A>C (n.-62A>C) c.716A>C (p.Glu239Ala) n.685A>C c.380A>C (p.Glu127Ala) c.*433A>C (n.*433A>C) n.816A>C c.-133-5157A>C (n.-133-5157A>C) c.713A>C (p.Glu238Ala) c.800A>C (p.Glu267Ala) c.455A>C (p.Glu152Ala) c.803A>C (p.Glu268Ala) c.701A>C (p.Glu234Ala) n.662A>C c.644A>C (p.Glu215Ala) c.707A>C (p.Glu236Ala) c.695A>C (p.Glu232Ala) | gnomAD v4 |
2 | g.144404008del | CA2586965036 | ZEB2 | c.*564del (n.*564del) c.-63del (n.-63del) c.715del (p.Glu239ArgfsTer23) n.684del c.379del (p.Glu127ArgfsTer23) c.*432del (n.*432del) n.815del c.-133-5158del (n.-133-5158del) c.712del (p.Glu238ArgfsTer23) c.799del (p.Glu267ArgfsTer23) c.454del (p.Glu152ArgfsTer23) c.802del (p.Glu268ArgfsTer23) c.700del (p.Glu234ArgfsTer23) n.661del c.643del (p.Glu215ArgfsTer23) c.706del (p.Glu236ArgfsTer23) c.694del (p.Glu232ArgfsTer23) | ClinVar |
2 | g.144404008C>A | CA348714757 | ZEB2 | c.*564G>T (n.*564G>T) c.-63G>T (n.-63G>T) c.715G>T (p.Glu239Ter) n.684G>T c.379G>T (p.Glu127Ter) c.*432G>T (n.*432G>T) n.815G>T c.-133-5158G>T (n.-133-5158G>T) c.712G>T (p.Glu238Ter) c.799G>T (p.Glu267Ter) c.454G>T (p.Glu152Ter) c.802G>T (p.Glu268Ter) c.700G>T (p.Glu234Ter) n.661G>T c.643G>T (p.Glu215Ter) c.706G>T (p.Glu236Ter) c.694G>T (p.Glu232Ter) | |
2 | g.144404008C>G | CA348714758 | ZEB2 | c.*564G>C (n.*564G>C) c.-63G>C (n.-63G>C) c.715G>C (p.Glu239Gln) n.684G>C c.379G>C (p.Glu127Gln) c.*432G>C (n.*432G>C) n.815G>C c.-133-5158G>C (n.-133-5158G>C) c.712G>C (p.Glu238Gln) c.799G>C (p.Glu267Gln) c.454G>C (p.Glu152Gln) c.802G>C (p.Glu268Gln) c.700G>C (p.Glu234Gln) n.661G>C c.643G>C (p.Glu215Gln) c.706G>C (p.Glu236Gln) c.694G>C (p.Glu232Gln) | |
2 | g.144404008C>T | CA348714759 | ZEB2 | c.*564G>A (n.*564G>A) c.-63G>A (n.-63G>A) c.715G>A (p.Glu239Lys) n.684G>A c.379G>A (p.Glu127Lys) c.*432G>A (n.*432G>A) n.815G>A c.-133-5158G>A (n.-133-5158G>A) c.712G>A (p.Glu238Lys) c.799G>A (p.Glu267Lys) c.454G>A (p.Glu152Lys) c.802G>A (p.Glu268Lys) c.700G>A (p.Glu234Lys) n.661G>A c.643G>A (p.Glu215Lys) c.706G>A (p.Glu236Lys) c.694G>A (p.Glu232Lys) | |
2 | g.144404009T>A | CA348714760 | ZEB2 | c.*563A>T (n.*563A>T) c.-64A>T (n.-64A>T) c.714A>T (p.Glu238Asp) n.683A>T c.378A>T (p.Glu126Asp) c.*431A>T (n.*431A>T) n.814A>T c.-133-5159A>T (n.-133-5159A>T) c.711A>T (p.Glu237Asp) c.798A>T (p.Glu266Asp) c.453A>T (p.Glu151Asp) c.801A>T (p.Glu267Asp) c.699A>T (p.Glu233Asp) n.660A>T c.642A>T (p.Glu214Asp) c.705A>T (p.Glu235Asp) c.693A>T (p.Glu231Asp) | gnomAD v4 |
2 | g.144404009T>C | CA429218532 | ZEB2 | c.*563A>G (n.*563A>G) c.-64A>G (n.-64A>G) c.714A>G (p.Glu238=) n.683A>G c.378A>G (p.Glu126=) c.*431A>G (n.*431A>G) n.814A>G c.-133-5159A>G (n.-133-5159A>G) c.711A>G (p.Glu237=) c.798A>G (p.Glu266=) c.453A>G (p.Glu151=) c.801A>G (p.Glu267=) c.699A>G (p.Glu233=) n.660A>G c.642A>G (p.Glu214=) c.705A>G (p.Glu235=) c.693A>G (p.Glu231=) | ClinVar dbSNP |
2 | g.144404009T>G | CA348714761 | ZEB2 | c.*563A>C (n.*563A>C) c.-64A>C (n.-64A>C) c.714A>C (p.Glu238Asp) n.683A>C c.378A>C (p.Glu126Asp) c.*431A>C (n.*431A>C) n.814A>C c.-133-5159A>C (n.-133-5159A>C) c.711A>C (p.Glu237Asp) c.798A>C (p.Glu266Asp) c.453A>C (p.Glu151Asp) c.801A>C (p.Glu267Asp) c.699A>C (p.Glu233Asp) n.660A>C c.642A>C (p.Glu214Asp) c.705A>C (p.Glu235Asp) c.693A>C (p.Glu231Asp) | |
2 | g.144404010del | CA429218531 | ZEB2 | c.*563del (n.*563del) c.-64del (n.-64del) c.714del (p.Glu239ArgfsTer23) n.683del c.378del (p.Glu127ArgfsTer23) c.*431del (n.*431del) n.814del c.-133-5159del (n.-133-5159del) c.711del (p.Glu238ArgfsTer23) c.798del (p.Glu267ArgfsTer23) c.453del (p.Glu152ArgfsTer23) c.801del (p.Glu268ArgfsTer23) c.699del (p.Glu234ArgfsTer23) n.660del c.642del (p.Glu215ArgfsTer23) c.705del (p.Glu236ArgfsTer23) c.693del (p.Glu232ArgfsTer23) | |
2 | g.144404010T>A | CA348714762 | ZEB2 | c.*562A>T (n.*562A>T) c.-65A>T (n.-65A>T) c.713A>T (p.Glu238Val) n.682A>T c.377A>T (p.Glu126Val) c.*430A>T (n.*430A>T) n.813A>T c.-133-5160A>T (n.-133-5160A>T) c.710A>T (p.Glu237Val) c.797A>T (p.Glu266Val) c.452A>T (p.Glu151Val) c.800A>T (p.Glu267Val) c.698A>T (p.Glu233Val) n.659A>T c.641A>T (p.Glu214Val) c.704A>T (p.Glu235Val) c.692A>T (p.Glu231Val) | |
2 | g.144404010T>C | CA348714763 | ZEB2 | c.*562A>G (n.*562A>G) c.-65A>G (n.-65A>G) c.713A>G (p.Glu238Gly) n.682A>G c.377A>G (p.Glu126Gly) c.*430A>G (n.*430A>G) n.813A>G c.-133-5160A>G (n.-133-5160A>G) c.710A>G (p.Glu237Gly) c.797A>G (p.Glu266Gly) c.452A>G (p.Glu151Gly) c.800A>G (p.Glu267Gly) c.698A>G (p.Glu233Gly) n.659A>G c.641A>G (p.Glu214Gly) c.704A>G (p.Glu235Gly) c.692A>G (p.Glu231Gly) | |
2 | g.144404010T>G | CA348714764 | ZEB2 | c.*562A>C (n.*562A>C) c.-65A>C (n.-65A>C) c.713A>C (p.Glu238Ala) n.682A>C c.377A>C (p.Glu126Ala) c.*430A>C (n.*430A>C) n.813A>C c.-133-5160A>C (n.-133-5160A>C) c.710A>C (p.Glu237Ala) c.797A>C (p.Glu266Ala) c.452A>C (p.Glu151Ala) c.800A>C (p.Glu267Ala) c.698A>C (p.Glu233Ala) n.659A>C c.641A>C (p.Glu214Ala) c.704A>C (p.Glu235Ala) c.692A>C (p.Glu231Ala) | |
2 | g.144404011C>A | CA348714765 | ZEB2 | c.*561G>T (n.*561G>T) c.-66G>T (n.-66G>T) c.712G>T (p.Glu238Ter) n.681G>T c.376G>T (p.Glu126Ter) c.*429G>T (n.*429G>T) n.812G>T c.-133-5161G>T (n.-133-5161G>T) c.709G>T (p.Glu237Ter) c.796G>T (p.Glu266Ter) c.451G>T (p.Glu151Ter) c.799G>T (p.Glu267Ter) c.697G>T (p.Glu233Ter) n.658G>T c.640G>T (p.Glu214Ter) c.703G>T (p.Glu235Ter) c.691G>T (p.Glu231Ter) | ClinVar dbSNP COSMIC |
2 | g.144404011C>G | CA348714766 | ZEB2 | c.*561G>C (n.*561G>C) c.-66G>C (n.-66G>C) c.712G>C (p.Glu238Gln) n.681G>C c.376G>C (p.Glu126Gln) c.*429G>C (n.*429G>C) n.812G>C c.-133-5161G>C (n.-133-5161G>C) c.709G>C (p.Glu237Gln) c.796G>C (p.Glu266Gln) c.451G>C (p.Glu151Gln) c.799G>C (p.Glu267Gln) c.697G>C (p.Glu233Gln) n.658G>C c.640G>C (p.Glu214Gln) c.703G>C (p.Glu235Gln) c.691G>C (p.Glu231Gln) | |
2 | g.144404011C>T | CA348714767 | ZEB2 | c.*561G>A (n.*561G>A) c.-66G>A (n.-66G>A) c.712G>A (p.Glu238Lys) n.681G>A c.376G>A (p.Glu126Lys) c.*429G>A (n.*429G>A) n.812G>A c.-133-5161G>A (n.-133-5161G>A) c.709G>A (p.Glu237Lys) c.796G>A (p.Glu266Lys) c.451G>A (p.Glu151Lys) c.799G>A (p.Glu267Lys) c.697G>A (p.Glu233Lys) n.658G>A c.640G>A (p.Glu214Lys) c.703G>A (p.Glu235Lys) c.691G>A (p.Glu231Lys) | COSMIC |
2 | g.144404012A= | CA1294887198 | ZEB2 | c.*560T= (n.*560T=) c.-67T= (n.-67T=) c.711T= (p.Asn237=) n.680T= c.375T= (p.Asn125=) c.*428T= (n.*428T=) n.811T= c.-133-5162T= (n.-133-5162T=) c.708T= (p.Asn236=) c.795T= (p.Asn265=) c.450T= (p.Asn150=) c.798T= (p.Asn266=) c.696T= (p.Asn232=) n.657T= c.639T= (p.Asn213=) c.702T= (p.Asn234=) c.690T= (p.Asn230=) | |
2 | g.144404012A>C | CA348714768 | ZEB2 | c.*560T>G (n.*560T>G) c.-67T>G (n.-67T>G) c.711T>G (p.Asn237Lys) n.680T>G c.375T>G (p.Asn125Lys) c.*428T>G (n.*428T>G) n.811T>G c.-133-5162T>G (n.-133-5162T>G) c.708T>G (p.Asn236Lys) c.795T>G (p.Asn265Lys) c.450T>G (p.Asn150Lys) c.798T>G (p.Asn266Lys) c.696T>G (p.Asn232Lys) n.657T>G c.639T>G (p.Asn213Lys) c.702T>G (p.Asn234Lys) c.690T>G (p.Asn230Lys) | |
2 | g.144404012A>G | CA1898425 | ZEB2 | c.*560T>C (n.*560T>C) c.-67T>C (n.-67T>C) c.711T>C (p.Asn237=) n.680T>C c.375T>C (p.Asn125=) c.*428T>C (n.*428T>C) n.811T>C c.-133-5162T>C (n.-133-5162T>C) c.708T>C (p.Asn236=) c.795T>C (p.Asn265=) c.450T>C (p.Asn150=) c.798T>C (p.Asn266=) c.696T>C (p.Asn232=) n.657T>C c.639T>C (p.Asn213=) c.702T>C (p.Asn234=) c.690T>C (p.Asn230=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.144404012A>T | CA348714769 | ZEB2 | c.*560T>A (n.*560T>A) c.-67T>A (n.-67T>A) c.711T>A (p.Asn237Lys) n.680T>A c.375T>A (p.Asn125Lys) c.*428T>A (n.*428T>A) n.811T>A c.-133-5162T>A (n.-133-5162T>A) c.708T>A (p.Asn236Lys) c.795T>A (p.Asn265Lys) c.450T>A (p.Asn150Lys) c.798T>A (p.Asn266Lys) c.696T>A (p.Asn232Lys) n.657T>A c.639T>A (p.Asn213Lys) c.702T>A (p.Asn234Lys) c.690T>A (p.Asn230Lys) | |
2 | g.144404013T>A | CA348714771 | ZEB2 | c.*559A>T (n.*559A>T) c.-68A>T (n.-68A>T) c.710A>T (p.Asn237Ile) n.679A>T c.374A>T (p.Asn125Ile) c.*427A>T (n.*427A>T) n.810A>T c.-133-5163A>T (n.-133-5163A>T) c.707A>T (p.Asn236Ile) c.794A>T (p.Asn265Ile) c.449A>T (p.Asn150Ile) c.797A>T (p.Asn266Ile) c.695A>T (p.Asn232Ile) n.656A>T c.638A>T (p.Asn213Ile) c.701A>T (p.Asn234Ile) c.689A>T (p.Asn230Ile) | |
2 | g.144404013T>C | CA57561799 | ZEB2 | c.*559A>G (n.*559A>G) c.-68A>G (n.-68A>G) c.710A>G (p.Asn237Ser) n.679A>G c.374A>G (p.Asn125Ser) c.*427A>G (n.*427A>G) n.810A>G c.-133-5163A>G (n.-133-5163A>G) c.707A>G (p.Asn236Ser) c.794A>G (p.Asn265Ser) c.449A>G (p.Asn150Ser) c.797A>G (p.Asn266Ser) c.695A>G (p.Asn232Ser) n.656A>G c.638A>G (p.Asn213Ser) c.701A>G (p.Asn234Ser) c.689A>G (p.Asn230Ser) | dbSNP |
2 | g.144404013T>G | CA348714770 | ZEB2 | c.*559A>C (n.*559A>C) c.-68A>C (n.-68A>C) c.710A>C (p.Asn237Thr) n.679A>C c.374A>C (p.Asn125Thr) c.*427A>C (n.*427A>C) n.810A>C c.-133-5163A>C (n.-133-5163A>C) c.707A>C (p.Asn236Thr) c.794A>C (p.Asn265Thr) c.449A>C (p.Asn150Thr) c.797A>C (p.Asn266Thr) c.695A>C (p.Asn232Thr) n.656A>C c.638A>C (p.Asn213Thr) c.701A>C (p.Asn234Thr) c.689A>C (p.Asn230Thr) | |
2 | g.144404013T= | CA1294887199 | ZEB2 | c.*559A= (n.*559A=) c.-68A= (n.-68A=) c.710A= (p.Asn237=) n.679A= c.374A= (p.Asn125=) c.*427A= (n.*427A=) n.810A= c.-133-5163A= (n.-133-5163A=) c.707A= (p.Asn236=) c.794A= (p.Asn265=) c.449A= (p.Asn150=) c.797A= (p.Asn266=) c.695A= (p.Asn232=) n.656A= c.638A= (p.Asn213=) c.701A= (p.Asn234=) c.689A= (p.Asn230=) | |
2 | g.144404014T>A | CA348714772 | ZEB2 | c.*558A>T (n.*558A>T) c.-69A>T (n.-69A>T) c.709A>T (p.Asn237Tyr) n.678A>T c.373A>T (p.Asn125Tyr) c.*426A>T (n.*426A>T) n.809A>T c.-133-5164A>T (n.-133-5164A>T) c.706A>T (p.Asn236Tyr) c.793A>T (p.Asn265Tyr) c.448A>T (p.Asn150Tyr) c.796A>T (p.Asn266Tyr) c.694A>T (p.Asn232Tyr) n.655A>T c.637A>T (p.Asn213Tyr) c.700A>T (p.Asn234Tyr) c.688A>T (p.Asn230Tyr) | |
2 | g.144404014T>C | CA348714773 | ZEB2 | c.*558A>G (n.*558A>G) c.-69A>G (n.-69A>G) c.709A>G (p.Asn237Asp) n.678A>G c.373A>G (p.Asn125Asp) c.*426A>G (n.*426A>G) n.809A>G c.-133-5164A>G (n.-133-5164A>G) c.706A>G (p.Asn236Asp) c.793A>G (p.Asn265Asp) c.448A>G (p.Asn150Asp) c.796A>G (p.Asn266Asp) c.694A>G (p.Asn232Asp) n.655A>G c.637A>G (p.Asn213Asp) c.700A>G (p.Asn234Asp) c.688A>G (p.Asn230Asp) | |
2 | g.144404014T>G | CA348714774 | ZEB2 | c.*558A>C (n.*558A>C) c.-69A>C (n.-69A>C) c.709A>C (p.Asn237His) n.678A>C c.373A>C (p.Asn125His) c.*426A>C (n.*426A>C) n.809A>C c.-133-5164A>C (n.-133-5164A>C) c.706A>C (p.Asn236His) c.793A>C (p.Asn265His) c.448A>C (p.Asn150His) c.796A>C (p.Asn266His) c.694A>C (p.Asn232His) n.655A>C c.637A>C (p.Asn213His) c.700A>C (p.Asn234His) c.688A>C (p.Asn230His) | |
2 | g.144404015C>A | CA348714775 | ZEB2 | c.*557G>T (n.*557G>T) c.-70G>T (n.-70G>T) c.708G>T (p.Lys236Asn) n.677G>T c.372G>T (p.Lys124Asn) c.*425G>T (n.*425G>T) n.808G>T c.-133-5165G>T (n.-133-5165G>T) c.705G>T (p.Lys235Asn) c.792G>T (p.Lys264Asn) c.447G>T (p.Lys149Asn) c.795G>T (p.Lys265Asn) c.693G>T (p.Lys231Asn) n.654G>T c.636G>T (p.Lys212Asn) c.699G>T (p.Lys233Asn) c.687G>T (p.Lys229Asn) | |
2 | g.144404015C>G | CA348714776 | ZEB2 | c.*557G>C (n.*557G>C) c.-70G>C (n.-70G>C) c.708G>C (p.Lys236Asn) n.677G>C c.372G>C (p.Lys124Asn) c.*425G>C (n.*425G>C) n.808G>C c.-133-5165G>C (n.-133-5165G>C) c.705G>C (p.Lys235Asn) c.792G>C (p.Lys264Asn) c.447G>C (p.Lys149Asn) c.795G>C (p.Lys265Asn) c.693G>C (p.Lys231Asn) n.654G>C c.636G>C (p.Lys212Asn) c.699G>C (p.Lys233Asn) c.687G>C (p.Lys229Asn) | |
2 | g.144404015C>T | CA429218537 | ZEB2 | c.*557G>A (n.*557G>A) c.-70G>A (n.-70G>A) c.708G>A (p.Lys236=) n.677G>A c.372G>A (p.Lys124=) c.*425G>A (n.*425G>A) n.808G>A c.-133-5165G>A (n.-133-5165G>A) c.705G>A (p.Lys235=) c.792G>A (p.Lys264=) c.447G>A (p.Lys149=) c.795G>A (p.Lys265=) c.693G>A (p.Lys231=) n.654G>A c.636G>A (p.Lys212=) c.699G>A (p.Lys233=) c.687G>A (p.Lys229=) | ClinVar dbSNP |
2 | g.144404016T>A | CA348714777 | ZEB2 | c.*556A>T (n.*556A>T) c.-71A>T (n.-71A>T) c.707A>T (p.Lys236Met) n.676A>T c.371A>T (p.Lys124Met) c.*424A>T (n.*424A>T) n.807A>T c.-133-5166A>T (n.-133-5166A>T) c.704A>T (p.Lys235Met) c.791A>T (p.Lys264Met) c.446A>T (p.Lys149Met) c.794A>T (p.Lys265Met) c.692A>T (p.Lys231Met) n.653A>T c.635A>T (p.Lys212Met) c.698A>T (p.Lys233Met) c.686A>T (p.Lys229Met) | |
2 | g.144404016T>C | CA348714778 | ZEB2 | c.*556A>G (n.*556A>G) c.-71A>G (n.-71A>G) c.707A>G (p.Lys236Arg) n.676A>G c.371A>G (p.Lys124Arg) c.*424A>G (n.*424A>G) n.807A>G c.-133-5166A>G (n.-133-5166A>G) c.704A>G (p.Lys235Arg) c.791A>G (p.Lys264Arg) c.446A>G (p.Lys149Arg) c.794A>G (p.Lys265Arg) c.692A>G (p.Lys231Arg) n.653A>G c.635A>G (p.Lys212Arg) c.698A>G (p.Lys233Arg) c.686A>G (p.Lys229Arg) | ClinVar |
2 | g.144404016T>G | CA348714779 | ZEB2 | c.*556A>C (n.*556A>C) c.-71A>C (n.-71A>C) c.707A>C (p.Lys236Thr) n.676A>C c.371A>C (p.Lys124Thr) c.*424A>C (n.*424A>C) n.807A>C c.-133-5166A>C (n.-133-5166A>C) c.704A>C (p.Lys235Thr) c.791A>C (p.Lys264Thr) c.446A>C (p.Lys149Thr) c.794A>C (p.Lys265Thr) c.692A>C (p.Lys231Thr) n.653A>C c.635A>C (p.Lys212Thr) c.698A>C (p.Lys233Thr) c.686A>C (p.Lys229Thr) | |
2 | g.144404017T>A | CA348714780 | ZEB2 | c.*555A>T (n.*555A>T) c.-72A>T (n.-72A>T) c.706A>T (p.Lys236Ter) n.675A>T c.370A>T (p.Lys124Ter) c.*423A>T (n.*423A>T) n.806A>T c.-133-5167A>T (n.-133-5167A>T) c.703A>T (p.Lys235Ter) c.790A>T (p.Lys264Ter) c.445A>T (p.Lys149Ter) c.793A>T (p.Lys265Ter) c.691A>T (p.Lys231Ter) n.652A>T c.634A>T (p.Lys212Ter) c.697A>T (p.Lys233Ter) c.685A>T (p.Lys229Ter) | |
2 | g.144404017T>C | CA348714781 | ZEB2 | c.*555A>G (n.*555A>G) c.-72A>G (n.-72A>G) c.706A>G (p.Lys236Glu) n.675A>G c.370A>G (p.Lys124Glu) c.*423A>G (n.*423A>G) n.806A>G c.-133-5167A>G (n.-133-5167A>G) c.703A>G (p.Lys235Glu) c.790A>G (p.Lys264Glu) c.445A>G (p.Lys149Glu) c.793A>G (p.Lys265Glu) c.691A>G (p.Lys231Glu) n.652A>G c.634A>G (p.Lys212Glu) c.697A>G (p.Lys233Glu) c.685A>G (p.Lys229Glu) | |
2 | g.144404017T>G | CA348714782 | ZEB2 | c.*555A>C (n.*555A>C) c.-72A>C (n.-72A>C) c.706A>C (p.Lys236Gln) n.675A>C c.370A>C (p.Lys124Gln) c.*423A>C (n.*423A>C) n.806A>C c.-133-5167A>C (n.-133-5167A>C) c.703A>C (p.Lys235Gln) c.790A>C (p.Lys264Gln) c.445A>C (p.Lys149Gln) c.793A>C (p.Lys265Gln) c.691A>C (p.Lys231Gln) n.652A>C c.634A>C (p.Lys212Gln) c.697A>C (p.Lys233Gln) c.685A>C (p.Lys229Gln) | |
2 | g.144404019_144404020del | CA2586965037 | ZEB2 | c.*554_*555del (n.*554_*555del) c.-73_-72del (n.-73_-72del) c.705_706del (p.Lys236GlufsTer2) n.674_675del c.369_370del (p.Lys124GlufsTer2) c.*422_*423del (n.*422_*423del) n.805_806del c.-133-5168_-133-5167del (n.-133-5168_-133-5167del) c.702_703del (p.Lys235GlufsTer2) c.789_790del (p.Lys264GlufsTer2) c.444_445del (p.Lys149GlufsTer2) c.792_793del (p.Lys265GlufsTer2) c.690_691del (p.Lys231GlufsTer2) n.651_652del c.633_634del (p.Lys212GlufsTer2) c.696_697del (p.Lys233GlufsTer2) c.684_685del (p.Lys229GlufsTer2) | |
2 | g.144404018C>A | CA348714783 | ZEB2 | c.*554G>T (n.*554G>T) c.-73G>T (n.-73G>T) c.705G>T (p.Glu235Asp) n.674G>T c.369G>T (p.Glu123Asp) c.*422G>T (n.*422G>T) n.805G>T c.-133-5168G>T (n.-133-5168G>T) c.702G>T (p.Glu234Asp) c.789G>T (p.Glu263Asp) c.444G>T (p.Glu148Asp) c.792G>T (p.Glu264Asp) c.690G>T (p.Glu230Asp) n.651G>T c.633G>T (p.Glu211Asp) c.696G>T (p.Glu232Asp) c.684G>T (p.Glu228Asp) | |
2 | g.144404018C>G | CA348714784 | ZEB2 | c.*554G>C (n.*554G>C) c.-73G>C (n.-73G>C) c.705G>C (p.Glu235Asp) n.674G>C c.369G>C (p.Glu123Asp) c.*422G>C (n.*422G>C) n.805G>C c.-133-5168G>C (n.-133-5168G>C) c.702G>C (p.Glu234Asp) c.789G>C (p.Glu263Asp) c.444G>C (p.Glu148Asp) c.792G>C (p.Glu264Asp) c.690G>C (p.Glu230Asp) n.651G>C c.633G>C (p.Glu211Asp) c.696G>C (p.Glu232Asp) c.684G>C (p.Glu228Asp) | |
2 | g.144404018C>T | CA429218539 | ZEB2 | c.*554G>A (n.*554G>A) c.-73G>A (n.-73G>A) c.705G>A (p.Glu235=) n.674G>A c.369G>A (p.Glu123=) c.*422G>A (n.*422G>A) n.805G>A c.-133-5168G>A (n.-133-5168G>A) c.702G>A (p.Glu234=) c.789G>A (p.Glu263=) c.444G>A (p.Glu148=) c.792G>A (p.Glu264=) c.690G>A (p.Glu230=) n.651G>A c.633G>A (p.Glu211=) c.696G>A (p.Glu232=) c.684G>A (p.Glu228=) | |
2 | g.144404019T>A | CA348714785 | ZEB2 | c.*553A>T (n.*553A>T) c.-74A>T (n.-74A>T) c.704A>T (p.Glu235Val) n.673A>T c.368A>T (p.Glu123Val) c.*421A>T (n.*421A>T) n.804A>T c.-133-5169A>T (n.-133-5169A>T) c.701A>T (p.Glu234Val) c.788A>T (p.Glu263Val) c.443A>T (p.Glu148Val) c.791A>T (p.Glu264Val) c.689A>T (p.Glu230Val) n.650A>T c.632A>T (p.Glu211Val) c.695A>T (p.Glu232Val) c.683A>T (p.Glu228Val) | |
2 | g.144404019T>C | CA57561839 | ZEB2 | c.*553A>G (n.*553A>G) c.-74A>G (n.-74A>G) c.704A>G (p.Glu235Gly) n.673A>G c.368A>G (p.Glu123Gly) c.*421A>G (n.*421A>G) n.804A>G c.-133-5169A>G (n.-133-5169A>G) c.701A>G (p.Glu234Gly) c.788A>G (p.Glu263Gly) c.443A>G (p.Glu148Gly) c.791A>G (p.Glu264Gly) c.689A>G (p.Glu230Gly) n.650A>G c.632A>G (p.Glu211Gly) c.695A>G (p.Glu232Gly) c.683A>G (p.Glu228Gly) | dbSNP |
2 | g.144404019T>G | CA348714786 | ZEB2 | c.*553A>C (n.*553A>C) c.-74A>C (n.-74A>C) c.704A>C (p.Glu235Ala) n.673A>C c.368A>C (p.Glu123Ala) c.*421A>C (n.*421A>C) n.804A>C c.-133-5169A>C (n.-133-5169A>C) c.701A>C (p.Glu234Ala) c.788A>C (p.Glu263Ala) c.443A>C (p.Glu148Ala) c.791A>C (p.Glu264Ala) c.689A>C (p.Glu230Ala) n.650A>C c.632A>C (p.Glu211Ala) c.695A>C (p.Glu232Ala) c.683A>C (p.Glu228Ala) | |
2 | g.144404019T= | CA1294887201 | ZEB2 | c.*553A= (n.*553A=) c.-74A= (n.-74A=) c.704A= (p.Glu235=) n.673A= c.368A= (p.Glu123=) c.*421A= (n.*421A=) n.804A= c.-133-5169A= (n.-133-5169A=) c.701A= (p.Glu234=) c.788A= (p.Glu263=) c.443A= (p.Glu148=) c.791A= (p.Glu264=) c.689A= (p.Glu230=) n.650A= c.632A= (p.Glu211=) c.695A= (p.Glu232=) c.683A= (p.Glu228=) | |
2 | g.144404019_144404020delinsTC | CA1294887200 | ZEB2 | c.*552_*553delinsGA (n.*552_*553delinsGA) c.-75_-74delinsGA (n.-75_-74delinsGA) c.703_704delinsGA (p.Glu235=) n.672_673delinsGA c.367_368delinsGA (p.Glu123=) c.*420_*421delinsGA (n.*420_*421delinsGA) n.803_804delinsGA c.-133-5170_-133-5169delinsGA (n.-133-5170_-133-5169delinsGA) c.700_701delinsGA (p.Glu234=) c.787_788delinsGA (p.Glu263=) c.442_443delinsGA (p.Glu148=) c.790_791delinsGA (p.Glu264=) c.688_689delinsGA (p.Glu230=) n.649_650delinsGA c.631_632delinsGA (p.Glu211=) c.694_695delinsGA (p.Glu232=) c.682_683delinsGA (p.Glu228=) | |
2 | g.144404020del | CA274512 | ZEB2 | c.*552del (n.*552del) c.-75del (n.-75del) c.703del (p.Glu235ArgfsTer27) n.672del c.367del (p.Glu123ArgfsTer27) c.*420del (n.*420del) n.803del c.-133-5170del (n.-133-5170del) c.700del (p.Glu234ArgfsTer27) c.787del (p.Glu263ArgfsTer27) c.442del (p.Glu148ArgfsTer27) c.790del (p.Glu264ArgfsTer27) c.688del (p.Glu230ArgfsTer27) n.649del c.631del (p.Glu211ArgfsTer27) c.694del (p.Glu232ArgfsTer27) c.682del (p.Glu228ArgfsTer27) | ClinVar dbSNP |
2 | g.144404020C>A | CA348714787 | ZEB2 | c.*552G>T (n.*552G>T) c.-75G>T (n.-75G>T) c.703G>T (p.Glu235Ter) n.672G>T c.367G>T (p.Glu123Ter) c.*420G>T (n.*420G>T) n.803G>T c.-133-5170G>T (n.-133-5170G>T) c.700G>T (p.Glu234Ter) c.787G>T (p.Glu263Ter) c.442G>T (p.Glu148Ter) c.790G>T (p.Glu264Ter) c.688G>T (p.Glu230Ter) n.649G>T c.631G>T (p.Glu211Ter) c.694G>T (p.Glu232Ter) c.682G>T (p.Glu228Ter) | ClinVar dbSNP |
2 | g.144404020C= | CA1294887202 | ZEB2 | c.*552G= (n.*552G=) c.-75G= (n.-75G=) c.703G= (p.Glu235=) n.672G= c.367G= (p.Glu123=) c.*420G= (n.*420G=) n.803G= c.-133-5170G= (n.-133-5170G=) c.700G= (p.Glu234=) c.787G= (p.Glu263=) c.442G= (p.Glu148=) c.790G= (p.Glu264=) c.688G= (p.Glu230=) n.649G= c.631G= (p.Glu211=) c.694G= (p.Glu232=) c.682G= (p.Glu228=) | |
2 | g.144404020C>G | CA348714788 | ZEB2 | c.*552G>C (n.*552G>C) c.-75G>C (n.-75G>C) c.703G>C (p.Glu235Gln) n.672G>C c.367G>C (p.Glu123Gln) c.*420G>C (n.*420G>C) n.803G>C c.-133-5170G>C (n.-133-5170G>C) c.700G>C (p.Glu234Gln) c.787G>C (p.Glu263Gln) c.442G>C (p.Glu148Gln) c.790G>C (p.Glu264Gln) c.688G>C (p.Glu230Gln) n.649G>C c.631G>C (p.Glu211Gln) c.694G>C (p.Glu232Gln) c.682G>C (p.Glu228Gln) | |
2 | g.144404020C>T | CA348714789 | ZEB2 | c.*552G>A (n.*552G>A) c.-75G>A (n.-75G>A) c.703G>A (p.Glu235Lys) n.672G>A c.367G>A (p.Glu123Lys) c.*420G>A (n.*420G>A) n.803G>A c.-133-5170G>A (n.-133-5170G>A) c.700G>A (p.Glu234Lys) c.787G>A (p.Glu263Lys) c.442G>A (p.Glu148Lys) c.790G>A (p.Glu264Lys) c.688G>A (p.Glu230Lys) n.649G>A c.631G>A (p.Glu211Lys) c.694G>A (p.Glu232Lys) c.682G>A (p.Glu228Lys) | ClinVar dbSNP |
2 | g.144404021G>A | CA1898426 | ZEB2 | c.*551C>T (n.*551C>T) c.-76C>T (n.-76C>T) c.702C>T (p.His234=) n.671C>T c.366C>T (p.His122=) c.*419C>T (n.*419C>T) n.802C>T c.-133-5171C>T (n.-133-5171C>T) c.699C>T (p.His233=) c.786C>T (p.His262=) c.441C>T (p.His147=) c.789C>T (p.His263=) c.687C>T (p.His229=) n.648C>T c.630C>T (p.His210=) c.693C>T (p.His231=) c.681C>T (p.His227=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.144404021G>C | CA348714790 | ZEB2 | c.*551C>G (n.*551C>G) c.-76C>G (n.-76C>G) c.702C>G (p.His234Gln) n.671C>G c.366C>G (p.His122Gln) c.*419C>G (n.*419C>G) n.802C>G c.-133-5171C>G (n.-133-5171C>G) c.699C>G (p.His233Gln) c.786C>G (p.His262Gln) c.441C>G (p.His147Gln) c.789C>G (p.His263Gln) c.687C>G (p.His229Gln) n.648C>G c.630C>G (p.His210Gln) c.693C>G (p.His231Gln) c.681C>G (p.His227Gln) | |
2 | g.144404021G= | CA1294887203 | ZEB2 | c.*551C= (n.*551C=) c.-76C= (n.-76C=) c.702C= (p.His234=) n.671C= c.366C= (p.His122=) c.*419C= (n.*419C=) n.802C= c.-133-5171C= (n.-133-5171C=) c.699C= (p.His233=) c.786C= (p.His262=) c.441C= (p.His147=) c.789C= (p.His263=) c.687C= (p.His229=) n.648C= c.630C= (p.His210=) c.693C= (p.His231=) c.681C= (p.His227=) | |
2 | g.144404021G>T | CA348714791 | ZEB2 | c.*551C>A (n.*551C>A) c.-76C>A (n.-76C>A) c.702C>A (p.His234Gln) n.671C>A c.366C>A (p.His122Gln) c.*419C>A (n.*419C>A) n.802C>A c.-133-5171C>A (n.-133-5171C>A) c.699C>A (p.His233Gln) c.786C>A (p.His262Gln) c.441C>A (p.His147Gln) c.789C>A (p.His263Gln) c.687C>A (p.His229Gln) n.648C>A c.630C>A (p.His210Gln) c.693C>A (p.His231Gln) c.681C>A (p.His227Gln) | |
2 | g.144404022T>A | CA1898427 | ZEB2 | c.*550A>T (n.*550A>T) c.-77A>T (n.-77A>T) c.701A>T (p.His234Leu) n.670A>T c.365A>T (p.His122Leu) c.*418A>T (n.*418A>T) n.801A>T c.-133-5172A>T (n.-133-5172A>T) c.698A>T (p.His233Leu) c.785A>T (p.His262Leu) c.440A>T (p.His147Leu) c.788A>T (p.His263Leu) c.686A>T (p.His229Leu) n.647A>T c.629A>T (p.His210Leu) c.692A>T (p.His231Leu) c.680A>T (p.His227Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.144404022T>C | CA348714792 | ZEB2 | c.*550A>G (n.*550A>G) c.-77A>G (n.-77A>G) c.701A>G (p.His234Arg) n.670A>G c.365A>G (p.His122Arg) c.*418A>G (n.*418A>G) n.801A>G c.-133-5172A>G (n.-133-5172A>G) c.698A>G (p.His233Arg) c.785A>G (p.His262Arg) c.440A>G (p.His147Arg) c.788A>G (p.His263Arg) c.686A>G (p.His229Arg) n.647A>G c.629A>G (p.His210Arg) c.692A>G (p.His231Arg) c.680A>G (p.His227Arg) | |
2 | g.144404022T>G | CA348714793 | ZEB2 | c.*550A>C (n.*550A>C) c.-77A>C (n.-77A>C) c.701A>C (p.His234Pro) n.670A>C c.365A>C (p.His122Pro) c.*418A>C (n.*418A>C) n.801A>C c.-133-5172A>C (n.-133-5172A>C) c.698A>C (p.His233Pro) c.785A>C (p.His262Pro) c.440A>C (p.His147Pro) c.788A>C (p.His263Pro) c.686A>C (p.His229Pro) n.647A>C c.629A>C (p.His210Pro) c.692A>C (p.His231Pro) c.680A>C (p.His227Pro) | |
2 | g.144404022T= | CA1294887204 | ZEB2 | c.*550A= (n.*550A=) c.-77A= (n.-77A=) c.701A= (p.His234=) n.670A= c.365A= (p.His122=) c.*418A= (n.*418A=) n.801A= c.-133-5172A= (n.-133-5172A=) c.698A= (p.His233=) c.785A= (p.His262=) c.440A= (p.His147=) c.788A= (p.His263=) c.686A= (p.His229=) n.647A= c.629A= (p.His210=) c.692A= (p.His231=) c.680A= (p.His227=) | |
2 | g.144404023G>A | CA348714796 | ZEB2 | c.*549C>T (n.*549C>T) c.-78C>T (n.-78C>T) c.700C>T (p.His234Tyr) n.669C>T c.364C>T (p.His122Tyr) c.*417C>T (n.*417C>T) n.800C>T c.-133-5173C>T (n.-133-5173C>T) c.697C>T (p.His233Tyr) c.784C>T (p.His262Tyr) c.439C>T (p.His147Tyr) c.787C>T (p.His263Tyr) c.685C>T (p.His229Tyr) n.646C>T c.628C>T (p.His210Tyr) c.691C>T (p.His231Tyr) c.679C>T (p.His227Tyr) | |
2 | g.144404023G>C | CA348714795 | ZEB2 | c.*549C>G (n.*549C>G) c.-78C>G (n.-78C>G) c.700C>G (p.His234Asp) n.669C>G c.364C>G (p.His122Asp) c.*417C>G (n.*417C>G) n.800C>G c.-133-5173C>G (n.-133-5173C>G) c.697C>G (p.His233Asp) c.784C>G (p.His262Asp) c.439C>G (p.His147Asp) c.787C>G (p.His263Asp) c.685C>G (p.His229Asp) n.646C>G c.628C>G (p.His210Asp) c.691C>G (p.His231Asp) c.679C>G (p.His227Asp) | |
2 | g.144404023G>T | CA348714794 | ZEB2 | c.*549C>A (n.*549C>A) c.-78C>A (n.-78C>A) c.700C>A (p.His234Asn) n.669C>A c.364C>A (p.His122Asn) c.*417C>A (n.*417C>A) n.800C>A c.-133-5173C>A (n.-133-5173C>A) c.697C>A (p.His233Asn) c.784C>A (p.His262Asn) c.439C>A (p.His147Asn) c.787C>A (p.His263Asn) c.685C>A (p.His229Asn) n.646C>A c.628C>A (p.His210Asn) c.691C>A (p.His231Asn) c.679C>A (p.His227Asn) | COSMIC |
2 | g.144404024G>A | CA429218541 | ZEB2 | c.*548C>T (n.*548C>T) c.-79C>T (n.-79C>T) c.699C>T (p.Arg233=) n.668C>T c.363C>T (p.Arg121=) c.*416C>T (n.*416C>T) n.799C>T c.-133-5174C>T (n.-133-5174C>T) c.696C>T (p.Arg232=) c.783C>T (p.Arg261=) c.438C>T (p.Arg146=) c.786C>T (p.Arg262=) c.684C>T (p.Arg228=) n.645C>T c.627C>T (p.Arg209=) c.690C>T (p.Arg230=) c.678C>T (p.Arg226=) | |
2 | g.144404024G>C | CA429218542 | ZEB2 | c.*548C>G (n.*548C>G) c.-79C>G (n.-79C>G) c.699C>G (p.Arg233=) n.668C>G c.363C>G (p.Arg121=) c.*416C>G (n.*416C>G) n.799C>G c.-133-5174C>G (n.-133-5174C>G) c.696C>G (p.Arg232=) c.783C>G (p.Arg261=) c.438C>G (p.Arg146=) c.786C>G (p.Arg262=) c.684C>G (p.Arg228=) n.645C>G c.627C>G (p.Arg209=) c.690C>G (p.Arg230=) c.678C>G (p.Arg226=) | |
2 | g.144404024G>T | CA429218543 | ZEB2 | c.*548C>A (n.*548C>A) c.-79C>A (n.-79C>A) c.699C>A (p.Arg233=) n.668C>A c.363C>A (p.Arg121=) c.*416C>A (n.*416C>A) n.799C>A c.-133-5174C>A (n.-133-5174C>A) c.696C>A (p.Arg232=) c.783C>A (p.Arg261=) c.438C>A (p.Arg146=) c.786C>A (p.Arg262=) c.684C>A (p.Arg228=) n.645C>A c.627C>A (p.Arg209=) c.690C>A (p.Arg230=) c.678C>A (p.Arg226=) | |
2 | g.144404025C>A | CA348714797 | ZEB2 | c.*547G>T (n.*547G>T) c.-80G>T (n.-80G>T) c.698G>T (p.Arg233Leu) n.667G>T c.362G>T (p.Arg121Leu) c.*415G>T (n.*415G>T) n.798G>T c.-133-5175G>T (n.-133-5175G>T) c.695G>T (p.Arg232Leu) c.782G>T (p.Arg261Leu) c.437G>T (p.Arg146Leu) c.785G>T (p.Arg262Leu) c.683G>T (p.Arg228Leu) n.644G>T c.626G>T (p.Arg209Leu) c.689G>T (p.Arg230Leu) c.677G>T (p.Arg226Leu) | |
2 | g.144404025C>G | CA348714798 | ZEB2 | c.*547G>C (n.*547G>C) c.-80G>C (n.-80G>C) c.698G>C (p.Arg233Pro) n.667G>C c.362G>C (p.Arg121Pro) c.*415G>C (n.*415G>C) n.798G>C c.-133-5175G>C (n.-133-5175G>C) c.695G>C (p.Arg232Pro) c.782G>C (p.Arg261Pro) c.437G>C (p.Arg146Pro) c.785G>C (p.Arg262Pro) c.683G>C (p.Arg228Pro) n.644G>C c.626G>C (p.Arg209Pro) c.689G>C (p.Arg230Pro) c.677G>C (p.Arg226Pro) | |
2 | g.144404025C>T | CA348714799 | ZEB2 | c.*547G>A (n.*547G>A) c.-80G>A (n.-80G>A) c.698G>A (p.Arg233His) n.667G>A c.362G>A (p.Arg121His) c.*415G>A (n.*415G>A) n.798G>A c.-133-5175G>A (n.-133-5175G>A) c.695G>A (p.Arg232His) c.782G>A (p.Arg261His) c.437G>A (p.Arg146His) c.785G>A (p.Arg262His) c.683G>A (p.Arg228His) n.644G>A c.626G>A (p.Arg209His) c.689G>A (p.Arg230His) c.677G>A (p.Arg226His) | gnomAD v4 |
2 | g.144404026G>A | CA348714800 | ZEB2 | c.*546C>T (n.*546C>T) c.-81C>T (n.-81C>T) c.697C>T (p.Arg233Cys) n.666C>T c.361C>T (p.Arg121Cys) c.*414C>T (n.*414C>T) n.797C>T c.-133-5176C>T (n.-133-5176C>T) c.694C>T (p.Arg232Cys) c.781C>T (p.Arg261Cys) c.436C>T (p.Arg146Cys) c.784C>T (p.Arg262Cys) c.682C>T (p.Arg228Cys) n.643C>T c.625C>T (p.Arg209Cys) c.688C>T (p.Arg230Cys) c.676C>T (p.Arg226Cys) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
2 | g.144404026G>C | CA348714801 | ZEB2 | c.*546C>G (n.*546C>G) c.-81C>G (n.-81C>G) c.697C>G (p.Arg233Gly) n.666C>G c.361C>G (p.Arg121Gly) c.*414C>G (n.*414C>G) n.797C>G c.-133-5176C>G (n.-133-5176C>G) c.694C>G (p.Arg232Gly) c.781C>G (p.Arg261Gly) c.436C>G (p.Arg146Gly) c.784C>G (p.Arg262Gly) c.682C>G (p.Arg228Gly) n.643C>G c.625C>G (p.Arg209Gly) c.688C>G (p.Arg230Gly) c.676C>G (p.Arg226Gly) | |
2 | g.144404026G= | CA1294887205 | ZEB2 | c.*546C= (n.*546C=) c.-81C= (n.-81C=) c.697C= (p.Arg233=) n.666C= c.361C= (p.Arg121=) c.*414C= (n.*414C=) n.797C= c.-133-5176C= (n.-133-5176C=) c.694C= (p.Arg232=) c.781C= (p.Arg261=) c.436C= (p.Arg146=) c.784C= (p.Arg262=) c.682C= (p.Arg228=) n.643C= c.625C= (p.Arg209=) c.688C= (p.Arg230=) c.676C= (p.Arg226=) | |
2 | g.144404026G>T | CA348714802 | ZEB2 | c.*546C>A (n.*546C>A) c.-81C>A (n.-81C>A) c.697C>A (p.Arg233Ser) n.666C>A c.361C>A (p.Arg121Ser) c.*414C>A (n.*414C>A) n.797C>A c.-133-5176C>A (n.-133-5176C>A) c.694C>A (p.Arg232Ser) c.781C>A (p.Arg261Ser) c.436C>A (p.Arg146Ser) c.784C>A (p.Arg262Ser) c.682C>A (p.Arg228Ser) n.643C>A c.625C>A (p.Arg209Ser) c.688C>A (p.Arg230Ser) c.676C>A (p.Arg226Ser) | |
2 | g.144404027G>A | CA16610156 | ZEB2 | c.*545C>T (n.*545C>T) c.-82C>T (n.-82C>T) c.696C>T (p.Tyr232=) n.665C>T c.360C>T (p.Tyr120=) c.*413C>T (n.*413C>T) n.796C>T c.-133-5177C>T (n.-133-5177C>T) c.693C>T (p.Tyr231=) c.780C>T (p.Tyr260=) c.435C>T (p.Tyr145=) c.783C>T (p.Tyr261=) c.681C>T (p.Tyr227=) n.642C>T c.624C>T (p.Tyr208=) c.687C>T (p.Tyr229=) c.675C>T (p.Tyr225=) | ClinVar dbSNP |
2 | g.144404027G>C | CA348714803 | ZEB2 | c.*545C>G (n.*545C>G) c.-82C>G (n.-82C>G) c.696C>G (p.Tyr232Ter) n.665C>G c.360C>G (p.Tyr120Ter) c.*413C>G (n.*413C>G) n.796C>G c.-133-5177C>G (n.-133-5177C>G) c.693C>G (p.Tyr231Ter) c.780C>G (p.Tyr260Ter) c.435C>G (p.Tyr145Ter) c.783C>G (p.Tyr261Ter) c.681C>G (p.Tyr227Ter) n.642C>G c.624C>G (p.Tyr208Ter) c.687C>G (p.Tyr229Ter) c.675C>G (p.Tyr225Ter) | ClinVar |
2 | g.144404027G= | CA1294887206 | ZEB2 | c.*545C= (n.*545C=) c.-82C= (n.-82C=) c.696C= (p.Tyr232=) n.665C= c.360C= (p.Tyr120=) c.*413C= (n.*413C=) n.796C= c.-133-5177C= (n.-133-5177C=) c.693C= (p.Tyr231=) c.780C= (p.Tyr260=) c.435C= (p.Tyr145=) c.783C= (p.Tyr261=) c.681C= (p.Tyr227=) n.642C= c.624C= (p.Tyr208=) c.687C= (p.Tyr229=) c.675C= (p.Tyr225=) | |
2 | g.144404027G>T | CA348714804 | ZEB2 | c.*545C>A (n.*545C>A) c.-82C>A (n.-82C>A) c.696C>A (p.Tyr232Ter) n.665C>A c.360C>A (p.Tyr120Ter) c.*413C>A (n.*413C>A) n.796C>A c.-133-5177C>A (n.-133-5177C>A) c.693C>A (p.Tyr231Ter) c.780C>A (p.Tyr260Ter) c.435C>A (p.Tyr145Ter) c.783C>A (p.Tyr261Ter) c.681C>A (p.Tyr227Ter) n.642C>A c.624C>A (p.Tyr208Ter) c.687C>A (p.Tyr229Ter) c.675C>A (p.Tyr225Ter) | ClinVar dbSNP |
2 | g.144404028T>A | CA348714805 | ZEB2 | c.*544A>T (n.*544A>T) c.-83A>T (n.-83A>T) c.695A>T (p.Tyr232Phe) n.664A>T c.359A>T (p.Tyr120Phe) c.*412A>T (n.*412A>T) n.795A>T c.-133-5178A>T (n.-133-5178A>T) c.692A>T (p.Tyr231Phe) c.779A>T (p.Tyr260Phe) c.434A>T (p.Tyr145Phe) c.782A>T (p.Tyr261Phe) c.680A>T (p.Tyr227Phe) n.641A>T c.623A>T (p.Tyr208Phe) c.686A>T (p.Tyr229Phe) c.674A>T (p.Tyr225Phe) | |
2 | g.144404028T>C | CA348714807 | ZEB2 | c.*544A>G (n.*544A>G) c.-83A>G (n.-83A>G) c.695A>G (p.Tyr232Cys) n.664A>G c.359A>G (p.Tyr120Cys) c.*412A>G (n.*412A>G) n.795A>G c.-133-5178A>G (n.-133-5178A>G) c.692A>G (p.Tyr231Cys) c.779A>G (p.Tyr260Cys) c.434A>G (p.Tyr145Cys) c.782A>G (p.Tyr261Cys) c.680A>G (p.Tyr227Cys) n.641A>G c.623A>G (p.Tyr208Cys) c.686A>G (p.Tyr229Cys) c.674A>G (p.Tyr225Cys) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.144404028T>G | CA348714806 | ZEB2 | c.*544A>C (n.*544A>C) c.-83A>C (n.-83A>C) c.695A>C (p.Tyr232Ser) n.664A>C c.359A>C (p.Tyr120Ser) c.*412A>C (n.*412A>C) n.795A>C c.-133-5178A>C (n.-133-5178A>C) c.692A>C (p.Tyr231Ser) c.779A>C (p.Tyr260Ser) c.434A>C (p.Tyr145Ser) c.782A>C (p.Tyr261Ser) c.680A>C (p.Tyr227Ser) n.641A>C c.623A>C (p.Tyr208Ser) c.686A>C (p.Tyr229Ser) c.674A>C (p.Tyr225Ser) | |
2 | g.144404028T= | CA1294887207 | ZEB2 | c.*544A= (n.*544A=) c.-83A= (n.-83A=) c.695A= (p.Tyr232=) n.664A= c.359A= (p.Tyr120=) c.*412A= (n.*412A=) n.795A= c.-133-5178A= (n.-133-5178A=) c.692A= (p.Tyr231=) c.779A= (p.Tyr260=) c.434A= (p.Tyr145=) c.782A= (p.Tyr261=) c.680A= (p.Tyr227=) n.641A= c.623A= (p.Tyr208=) c.686A= (p.Tyr229=) c.674A= (p.Tyr225=) | |
2 | g.144404029A>C | CA348714808 | ZEB2 | c.*543T>G (n.*543T>G) c.-84T>G (n.-84T>G) c.694T>G (p.Tyr232Asp) n.663T>G c.358T>G (p.Tyr120Asp) c.*411T>G (n.*411T>G) n.794T>G c.-133-5179T>G (n.-133-5179T>G) c.691T>G (p.Tyr231Asp) c.778T>G (p.Tyr260Asp) c.433T>G (p.Tyr145Asp) c.781T>G (p.Tyr261Asp) c.679T>G (p.Tyr227Asp) n.640T>G c.622T>G (p.Tyr208Asp) c.685T>G (p.Tyr229Asp) c.673T>G (p.Tyr225Asp) | |
2 | g.144404029A>G | CA348714809 | ZEB2 | c.*543T>C (n.*543T>C) c.-84T>C (n.-84T>C) c.694T>C (p.Tyr232His) n.663T>C c.358T>C (p.Tyr120His) c.*411T>C (n.*411T>C) n.794T>C c.-133-5179T>C (n.-133-5179T>C) c.691T>C (p.Tyr231His) c.778T>C (p.Tyr260His) c.433T>C (p.Tyr145His) c.781T>C (p.Tyr261His) c.679T>C (p.Tyr227His) n.640T>C c.622T>C (p.Tyr208His) c.685T>C (p.Tyr229His) c.673T>C (p.Tyr225His) | |
2 | g.144404029A>T | CA348714810 | ZEB2 | c.*543T>A (n.*543T>A) c.-84T>A (n.-84T>A) c.694T>A (p.Tyr232Asn) n.663T>A c.358T>A (p.Tyr120Asn) c.*411T>A (n.*411T>A) n.794T>A c.-133-5179T>A (n.-133-5179T>A) c.691T>A (p.Tyr231Asn) c.778T>A (p.Tyr260Asn) c.433T>A (p.Tyr145Asn) c.781T>A (p.Tyr261Asn) c.679T>A (p.Tyr227Asn) n.640T>A c.622T>A (p.Tyr208Asn) c.685T>A (p.Tyr229Asn) c.673T>A (p.Tyr225Asn) | |
2 | g.144404030C>A | CA348714811 | ZEB2 | c.*542G>T (n.*542G>T) c.-85G>T (n.-85G>T) c.693G>T (p.Lys231Asn) n.662G>T c.357G>T (p.Lys119Asn) c.*410G>T (n.*410G>T) n.793G>T c.-133-5180G>T (n.-133-5180G>T) c.690G>T (p.Lys230Asn) c.777G>T (p.Lys259Asn) c.432G>T (p.Lys144Asn) c.780G>T (p.Lys260Asn) c.678G>T (p.Lys226Asn) n.639G>T c.621G>T (p.Lys207Asn) c.684G>T (p.Lys228Asn) c.672G>T (p.Lys224Asn) | |
2 | g.144404030C>G | CA348714812 | ZEB2 | c.*542G>C (n.*542G>C) c.-85G>C (n.-85G>C) c.693G>C (p.Lys231Asn) n.662G>C c.357G>C (p.Lys119Asn) c.*410G>C (n.*410G>C) n.793G>C c.-133-5180G>C (n.-133-5180G>C) c.690G>C (p.Lys230Asn) c.777G>C (p.Lys259Asn) c.432G>C (p.Lys144Asn) c.780G>C (p.Lys260Asn) c.678G>C (p.Lys226Asn) n.639G>C c.621G>C (p.Lys207Asn) c.684G>C (p.Lys228Asn) c.672G>C (p.Lys224Asn) | |
2 | g.144404030C>T | CA429218549 | ZEB2 | c.*542G>A (n.*542G>A) c.-85G>A (n.-85G>A) c.693G>A (p.Lys231=) n.662G>A c.357G>A (p.Lys119=) c.*410G>A (n.*410G>A) n.793G>A c.-133-5180G>A (n.-133-5180G>A) c.690G>A (p.Lys230=) c.777G>A (p.Lys259=) c.432G>A (p.Lys144=) c.780G>A (p.Lys260=) c.678G>A (p.Lys226=) n.639G>A c.621G>A (p.Lys207=) c.684G>A (p.Lys228=) c.672G>A (p.Lys224=) | |
2 | g.144404031T>A | CA348714813 | ZEB2 | c.*541A>T (n.*541A>T) c.-86A>T (n.-86A>T) c.692A>T (p.Lys231Met) n.661A>T c.356A>T (p.Lys119Met) c.*409A>T (n.*409A>T) n.792A>T c.-133-5181A>T (n.-133-5181A>T) c.689A>T (p.Lys230Met) c.776A>T (p.Lys259Met) c.431A>T (p.Lys144Met) c.779A>T (p.Lys260Met) c.677A>T (p.Lys226Met) n.638A>T c.620A>T (p.Lys207Met) c.683A>T (p.Lys228Met) c.671A>T (p.Lys224Met) | |
2 | g.144404031T>C | CA348714815 | ZEB2 | c.*541A>G (n.*541A>G) c.-86A>G (n.-86A>G) c.692A>G (p.Lys231Arg) n.661A>G c.356A>G (p.Lys119Arg) c.*409A>G (n.*409A>G) n.792A>G c.-133-5181A>G (n.-133-5181A>G) c.689A>G (p.Lys230Arg) c.776A>G (p.Lys259Arg) c.431A>G (p.Lys144Arg) c.779A>G (p.Lys260Arg) c.677A>G (p.Lys226Arg) n.638A>G c.620A>G (p.Lys207Arg) c.683A>G (p.Lys228Arg) c.671A>G (p.Lys224Arg) | |
2 | g.144404031T>G | CA348714814 | ZEB2 | c.*541A>C (n.*541A>C) c.-86A>C (n.-86A>C) c.692A>C (p.Lys231Thr) n.661A>C c.356A>C (p.Lys119Thr) c.*409A>C (n.*409A>C) n.792A>C c.-133-5181A>C (n.-133-5181A>C) c.689A>C (p.Lys230Thr) c.776A>C (p.Lys259Thr) c.431A>C (p.Lys144Thr) c.779A>C (p.Lys260Thr) c.677A>C (p.Lys226Thr) n.638A>C c.620A>C (p.Lys207Thr) c.683A>C (p.Lys228Thr) c.671A>C (p.Lys224Thr) | |
2 | g.144404032dup | CA2573051662 | ZEB2 | c.*541dup (n.*541dup) c.-86dup (n.-86dup) c.692dup (p.Tyr232ValfsTer7) n.661dup c.356dup (p.Tyr120ValfsTer7) c.*409dup (n.*409dup) n.792dup c.-133-5181dup (n.-133-5181dup) c.689dup (p.Tyr231ValfsTer7) c.776dup (p.Tyr260ValfsTer7) c.431dup (p.Tyr145ValfsTer7) c.779dup (p.Tyr261ValfsTer7) c.677dup (p.Tyr227ValfsTer7) n.638dup c.620dup (p.Tyr208ValfsTer7) c.683dup (p.Tyr229ValfsTer7) c.671dup (p.Tyr225ValfsTer7) | dbSNP |
2 | g.144404032T>A | CA348714816 | ZEB2 | c.*540A>T (n.*540A>T) c.-87A>T (n.-87A>T) c.691A>T (p.Lys231Ter) n.660A>T c.355A>T (p.Lys119Ter) c.*408A>T (n.*408A>T) n.791A>T c.-133-5182A>T (n.-133-5182A>T) c.688A>T (p.Lys230Ter) c.775A>T (p.Lys259Ter) c.430A>T (p.Lys144Ter) c.778A>T (p.Lys260Ter) c.676A>T (p.Lys226Ter) n.637A>T c.619A>T (p.Lys207Ter) c.682A>T (p.Lys228Ter) c.670A>T (p.Lys224Ter) | |
2 | g.144404032T>C | CA348714817 | ZEB2 | c.*540A>G (n.*540A>G) c.-87A>G (n.-87A>G) c.691A>G (p.Lys231Glu) n.660A>G c.355A>G (p.Lys119Glu) c.*408A>G (n.*408A>G) n.791A>G c.-133-5182A>G (n.-133-5182A>G) c.688A>G (p.Lys230Glu) c.775A>G (p.Lys259Glu) c.430A>G (p.Lys144Glu) c.778A>G (p.Lys260Glu) c.676A>G (p.Lys226Glu) n.637A>G c.619A>G (p.Lys207Glu) c.682A>G (p.Lys228Glu) c.670A>G (p.Lys224Glu) | |
2 | g.144404032T>G | CA348714818 | ZEB2 | c.*540A>C (n.*540A>C) c.-87A>C (n.-87A>C) c.691A>C (p.Lys231Gln) n.660A>C c.355A>C (p.Lys119Gln) c.*408A>C (n.*408A>C) n.791A>C c.-133-5182A>C (n.-133-5182A>C) c.688A>C (p.Lys230Gln) c.775A>C (p.Lys259Gln) c.430A>C (p.Lys144Gln) c.778A>C (p.Lys260Gln) c.676A>C (p.Lys226Gln) n.637A>C c.619A>C (p.Lys207Gln) c.682A>C (p.Lys228Gln) c.670A>C (p.Lys224Gln) | |
2 | g.144404033G>A | CA429218556 | ZEB2 | c.*539C>T (n.*539C>T) c.-88C>T (n.-88C>T) c.690C>T (p.Ile230=) n.659C>T c.354C>T (p.Ile118=) c.*407C>T (n.*407C>T) n.790C>T c.-133-5183C>T (n.-133-5183C>T) c.687C>T (p.Ile229=) c.774C>T (p.Ile258=) c.429C>T (p.Ile143=) c.777C>T (p.Ile259=) c.675C>T (p.Ile225=) n.636C>T c.618C>T (p.Ile206=) c.681C>T (p.Ile227=) c.669C>T (p.Ile223=) | ClinVar dbSNP gnomAD v4 |
2 | g.144404033G>C | CA348714819 | ZEB2 | c.*539C>G (n.*539C>G) c.-88C>G (n.-88C>G) c.690C>G (p.Ile230Met) n.659C>G c.354C>G (p.Ile118Met) c.*407C>G (n.*407C>G) n.790C>G c.-133-5183C>G (n.-133-5183C>G) c.687C>G (p.Ile229Met) c.774C>G (p.Ile258Met) c.429C>G (p.Ile143Met) c.777C>G (p.Ile259Met) c.675C>G (p.Ile225Met) n.636C>G c.618C>G (p.Ile206Met) c.681C>G (p.Ile227Met) c.669C>G (p.Ile223Met) | |
2 | g.144404033G= | CA1294887208 | ZEB2 | c.*539C= (n.*539C=) c.-88C= (n.-88C=) c.690C= (p.Ile230=) n.659C= c.354C= (p.Ile118=) c.*407C= (n.*407C=) n.790C= c.-133-5183C= (n.-133-5183C=) c.687C= (p.Ile229=) c.774C= (p.Ile258=) c.429C= (p.Ile143=) c.777C= (p.Ile259=) c.675C= (p.Ile225=) n.636C= c.618C= (p.Ile206=) c.681C= (p.Ile227=) c.669C= (p.Ile223=) | |
2 | g.144404033G>T | CA429218557 | ZEB2 | c.*539C>A (n.*539C>A) c.-88C>A (n.-88C>A) c.690C>A (p.Ile230=) n.659C>A c.354C>A (p.Ile118=) c.*407C>A (n.*407C>A) n.790C>A c.-133-5183C>A (n.-133-5183C>A) c.687C>A (p.Ile229=) c.774C>A (p.Ile258=) c.429C>A (p.Ile143=) c.777C>A (p.Ile259=) c.675C>A (p.Ile225=) n.636C>A c.618C>A (p.Ile206=) c.681C>A (p.Ile227=) c.669C>A (p.Ile223=) | |
2 | g.144404033dup | CA2586965038 | ZEB2 | c.*539dup (n.*539dup) c.-88dup (n.-88dup) c.690dup (p.Lys231GlnfsTer8) n.659dup c.354dup (p.Lys119GlnfsTer8) c.*407dup (n.*407dup) n.790dup c.-133-5183dup (n.-133-5183dup) c.687dup (p.Lys230GlnfsTer8) c.774dup (p.Lys259GlnfsTer8) c.429dup (p.Lys144GlnfsTer8) c.777dup (p.Lys260GlnfsTer8) c.675dup (p.Lys226GlnfsTer8) n.636dup c.618dup (p.Lys207GlnfsTer8) c.681dup (p.Lys228GlnfsTer8) c.669dup (p.Lys224GlnfsTer8) | |
2 | g.144404034A>C | CA348714820 | ZEB2 | c.*538T>G (n.*538T>G) c.-89T>G (n.-89T>G) c.689T>G (p.Ile230Ser) n.658T>G c.353T>G (p.Ile118Ser) c.*406T>G (n.*406T>G) n.789T>G c.-133-5184T>G (n.-133-5184T>G) c.686T>G (p.Ile229Ser) c.773T>G (p.Ile258Ser) c.428T>G (p.Ile143Ser) c.776T>G (p.Ile259Ser) c.674T>G (p.Ile225Ser) n.635T>G c.617T>G (p.Ile206Ser) c.680T>G (p.Ile227Ser) c.668T>G (p.Ile223Ser) | |
2 | g.144404034A>G | CA348714821 | ZEB2 | c.*538T>C (n.*538T>C) c.-89T>C (n.-89T>C) c.689T>C (p.Ile230Thr) n.658T>C c.353T>C (p.Ile118Thr) c.*406T>C (n.*406T>C) n.789T>C c.-133-5184T>C (n.-133-5184T>C) c.686T>C (p.Ile229Thr) c.773T>C (p.Ile258Thr) c.428T>C (p.Ile143Thr) c.776T>C (p.Ile259Thr) c.674T>C (p.Ile225Thr) n.635T>C c.617T>C (p.Ile206Thr) c.680T>C (p.Ile227Thr) c.668T>C (p.Ile223Thr) | |
2 | g.144404034A>T | CA348714822 | ZEB2 | c.*538T>A (n.*538T>A) c.-89T>A (n.-89T>A) c.689T>A (p.Ile230Asn) n.658T>A c.353T>A (p.Ile118Asn) c.*406T>A (n.*406T>A) n.789T>A c.-133-5184T>A (n.-133-5184T>A) c.686T>A (p.Ile229Asn) c.773T>A (p.Ile258Asn) c.428T>A (p.Ile143Asn) c.776T>A (p.Ile259Asn) c.674T>A (p.Ile225Asn) n.635T>A c.617T>A (p.Ile206Asn) c.680T>A (p.Ile227Asn) c.668T>A (p.Ile223Asn) | |
2 | g.144404035T>A | CA348714823 | ZEB2 | c.*537A>T (n.*537A>T) c.-90A>T (n.-90A>T) c.688A>T (p.Ile230Phe) n.657A>T c.352A>T (p.Ile118Phe) c.*405A>T (n.*405A>T) n.788A>T c.-133-5185A>T (n.-133-5185A>T) c.685A>T (p.Ile229Phe) c.772A>T (p.Ile258Phe) c.427A>T (p.Ile143Phe) c.775A>T (p.Ile259Phe) c.673A>T (p.Ile225Phe) n.634A>T c.616A>T (p.Ile206Phe) c.679A>T (p.Ile227Phe) c.667A>T (p.Ile223Phe) | |
2 | g.144404035T>C | CA348714824 | ZEB2 | c.*537A>G (n.*537A>G) c.-90A>G (n.-90A>G) c.688A>G (p.Ile230Val) n.657A>G c.352A>G (p.Ile118Val) c.*405A>G (n.*405A>G) n.788A>G c.-133-5185A>G (n.-133-5185A>G) c.685A>G (p.Ile229Val) c.772A>G (p.Ile258Val) c.427A>G (p.Ile143Val) c.775A>G (p.Ile259Val) c.673A>G (p.Ile225Val) n.634A>G c.616A>G (p.Ile206Val) c.679A>G (p.Ile227Val) c.667A>G (p.Ile223Val) | ClinVar |
2 | g.144404035T>G | CA348714825 | ZEB2 | c.*537A>C (n.*537A>C) c.-90A>C (n.-90A>C) c.688A>C (p.Ile230Leu) n.657A>C c.352A>C (p.Ile118Leu) c.*405A>C (n.*405A>C) n.788A>C c.-133-5185A>C (n.-133-5185A>C) c.685A>C (p.Ile229Leu) c.772A>C (p.Ile258Leu) c.427A>C (p.Ile143Leu) c.775A>C (p.Ile259Leu) c.673A>C (p.Ile225Leu) n.634A>C c.616A>C (p.Ile206Leu) c.679A>C (p.Ile227Leu) c.667A>C (p.Ile223Leu) | |
2 | g.144404036G>A | CA429218562 | ZEB2 | c.*536C>T (n.*536C>T) c.-91C>T (n.-91C>T) c.687C>T (p.His229=) n.656C>T c.351C>T (p.His117=) c.*404C>T (n.*404C>T) n.787C>T c.-133-5186C>T (n.-133-5186C>T) c.684C>T (p.His228=) c.771C>T (p.His257=) c.426C>T (p.His142=) c.774C>T (p.His258=) c.672C>T (p.His224=) n.633C>T c.615C>T (p.His205=) c.678C>T (p.His226=) c.666C>T (p.His222=) | |
2 | g.144404036G>C | CA348714826 | ZEB2 | c.*536C>G (n.*536C>G) c.-91C>G (n.-91C>G) c.687C>G (p.His229Gln) n.656C>G c.351C>G (p.His117Gln) c.*404C>G (n.*404C>G) n.787C>G c.-133-5186C>G (n.-133-5186C>G) c.684C>G (p.His228Gln) c.771C>G (p.His257Gln) c.426C>G (p.His142Gln) c.774C>G (p.His258Gln) c.672C>G (p.His224Gln) n.633C>G c.615C>G (p.His205Gln) c.678C>G (p.His226Gln) c.666C>G (p.His222Gln) | |
2 | g.144404036G>T | CA348714827 | ZEB2 | c.*536C>A (n.*536C>A) c.-91C>A (n.-91C>A) c.687C>A (p.His229Gln) n.656C>A c.351C>A (p.His117Gln) c.*404C>A (n.*404C>A) n.787C>A c.-133-5186C>A (n.-133-5186C>A) c.684C>A (p.His228Gln) c.771C>A (p.His257Gln) c.426C>A (p.His142Gln) c.774C>A (p.His258Gln) c.672C>A (p.His224Gln) n.633C>A c.615C>A (p.His205Gln) c.678C>A (p.His226Gln) c.666C>A (p.His222Gln) | |
2 | g.144404037T>A | CA348714828 | ZEB2 | c.*535A>T (n.*535A>T) c.-92A>T (n.-92A>T) c.686A>T (p.His229Leu) n.655A>T c.350A>T (p.His117Leu) c.*403A>T (n.*403A>T) n.786A>T c.-133-5187A>T (n.-133-5187A>T) c.683A>T (p.His228Leu) c.770A>T (p.His257Leu) c.425A>T (p.His142Leu) c.773A>T (p.His258Leu) c.671A>T (p.His224Leu) n.632A>T c.614A>T (p.His205Leu) c.677A>T (p.His226Leu) c.665A>T (p.His222Leu) | |
2 | g.144404037T>C | CA348714830 | ZEB2 | c.*535A>G (n.*535A>G) c.-92A>G (n.-92A>G) c.686A>G (p.His229Arg) n.655A>G c.350A>G (p.His117Arg) c.*403A>G (n.*403A>G) n.786A>G c.-133-5187A>G (n.-133-5187A>G) c.683A>G (p.His228Arg) c.770A>G (p.His257Arg) c.425A>G (p.His142Arg) c.773A>G (p.His258Arg) c.671A>G (p.His224Arg) n.632A>G c.614A>G (p.His205Arg) c.677A>G (p.His226Arg) c.665A>G (p.His222Arg) | |
2 | g.144404037T>G | CA348714829 | ZEB2 | c.*535A>C (n.*535A>C) c.-92A>C (n.-92A>C) c.686A>C (p.His229Pro) n.655A>C c.350A>C (p.His117Pro) c.*403A>C (n.*403A>C) n.786A>C c.-133-5187A>C (n.-133-5187A>C) c.683A>C (p.His228Pro) c.770A>C (p.His257Pro) c.425A>C (p.His142Pro) c.773A>C (p.His258Pro) c.671A>C (p.His224Pro) n.632A>C c.614A>C (p.His205Pro) c.677A>C (p.His226Pro) c.665A>C (p.His222Pro) | |
2 | g.144404038G>A | CA348714831 | ZEB2 | c.*534C>T (n.*534C>T) c.-93C>T (n.-93C>T) c.685C>T (p.His229Tyr) n.654C>T c.349C>T (p.His117Tyr) c.*402C>T (n.*402C>T) n.785C>T c.-133-5188C>T (n.-133-5188C>T) c.682C>T (p.His228Tyr) c.769C>T (p.His257Tyr) c.424C>T (p.His142Tyr) c.772C>T (p.His258Tyr) c.670C>T (p.His224Tyr) n.631C>T c.613C>T (p.His205Tyr) c.676C>T (p.His226Tyr) c.664C>T (p.His222Tyr) | ClinVar dbSNP |
2 | g.144404038G>C | CA348714832 | ZEB2 | c.*534C>G (n.*534C>G) c.-93C>G (n.-93C>G) c.685C>G (p.His229Asp) n.654C>G c.349C>G (p.His117Asp) c.*402C>G (n.*402C>G) n.785C>G c.-133-5188C>G (n.-133-5188C>G) c.682C>G (p.His228Asp) c.769C>G (p.His257Asp) c.424C>G (p.His142Asp) c.772C>G (p.His258Asp) c.670C>G (p.His224Asp) n.631C>G c.613C>G (p.His205Asp) c.676C>G (p.His226Asp) c.664C>G (p.His222Asp) | |
2 | g.144404038G>T | CA348714833 | ZEB2 | c.*534C>A (n.*534C>A) c.-93C>A (n.-93C>A) c.685C>A (p.His229Asn) n.654C>A c.349C>A (p.His117Asn) c.*402C>A (n.*402C>A) n.785C>A c.-133-5188C>A (n.-133-5188C>A) c.682C>A (p.His228Asn) c.769C>A (p.His257Asn) c.424C>A (p.His142Asn) c.772C>A (p.His258Asn) c.670C>A (p.His224Asn) n.631C>A c.613C>A (p.His205Asn) c.676C>A (p.His226Asn) c.664C>A (p.His222Asn) | |
2 | g.144404039C>A | CA348714834 | ZEB2 | c.*533G>T (n.*533G>T) c.-94G>T (n.-94G>T) c.684G>T (p.Glu228Asp) n.653G>T c.348G>T (p.Glu116Asp) c.*401G>T (n.*401G>T) n.784G>T c.-133-5189G>T (n.-133-5189G>T) c.681G>T (p.Glu227Asp) c.768G>T (p.Glu256Asp) c.423G>T (p.Glu141Asp) c.771G>T (p.Glu257Asp) c.669G>T (p.Glu223Asp) n.630G>T c.612G>T (p.Glu204Asp) c.675G>T (p.Glu225Asp) c.663G>T (p.Glu221Asp) | dbSNP gnomAD v4 |
2 | g.144404039C= | CA1294887209 | ZEB2 | c.*533G= (n.*533G=) c.-94G= (n.-94G=) c.684G= (p.Glu228=) n.653G= c.348G= (p.Glu116=) c.*401G= (n.*401G=) n.784G= c.-133-5189G= (n.-133-5189G=) c.681G= (p.Glu227=) c.768G= (p.Glu256=) c.423G= (p.Glu141=) c.771G= (p.Glu257=) c.669G= (p.Glu223=) n.630G= c.612G= (p.Glu204=) c.675G= (p.Glu225=) c.663G= (p.Glu221=) | |
2 | g.144404039C>G | CA348714835 | ZEB2 | c.*533G>C (n.*533G>C) c.-94G>C (n.-94G>C) c.684G>C (p.Glu228Asp) n.653G>C c.348G>C (p.Glu116Asp) c.*401G>C (n.*401G>C) n.784G>C c.-133-5189G>C (n.-133-5189G>C) c.681G>C (p.Glu227Asp) c.768G>C (p.Glu256Asp) c.423G>C (p.Glu141Asp) c.771G>C (p.Glu257Asp) c.669G>C (p.Glu223Asp) n.630G>C c.612G>C (p.Glu204Asp) c.675G>C (p.Glu225Asp) c.663G>C (p.Glu221Asp) | |
2 | g.144404039C>T | CA1898428 | ZEB2 | c.*533G>A (n.*533G>A) c.-94G>A (n.-94G>A) c.684G>A (p.Glu228=) n.653G>A c.348G>A (p.Glu116=) c.*401G>A (n.*401G>A) n.784G>A c.-133-5189G>A (n.-133-5189G>A) c.681G>A (p.Glu227=) c.768G>A (p.Glu256=) c.423G>A (p.Glu141=) c.771G>A (p.Glu257=) c.669G>A (p.Glu223=) n.630G>A c.612G>A (p.Glu204=) c.675G>A (p.Glu225=) c.663G>A (p.Glu221=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.144404040T>A | CA348714838 | ZEB2 | c.*532A>T (n.*532A>T) c.-95A>T (n.-95A>T) c.683A>T (p.Glu228Val) n.652A>T c.347A>T (p.Glu116Val) c.*400A>T (n.*400A>T) n.783A>T c.-133-5190A>T (n.-133-5190A>T) c.680A>T (p.Glu227Val) c.767A>T (p.Glu256Val) c.422A>T (p.Glu141Val) c.770A>T (p.Glu257Val) c.668A>T (p.Glu223Val) n.629A>T c.611A>T (p.Glu204Val) c.674A>T (p.Glu225Val) c.662A>T (p.Glu221Val) | |
2 | g.144404040T>C | CA348714836 | ZEB2 | c.*532A>G (n.*532A>G) c.-95A>G (n.-95A>G) c.683A>G (p.Glu228Gly) n.652A>G c.347A>G (p.Glu116Gly) c.*400A>G (n.*400A>G) n.783A>G c.-133-5190A>G (n.-133-5190A>G) c.680A>G (p.Glu227Gly) c.767A>G (p.Glu256Gly) c.422A>G (p.Glu141Gly) c.770A>G (p.Glu257Gly) c.668A>G (p.Glu223Gly) n.629A>G c.611A>G (p.Glu204Gly) c.674A>G (p.Glu225Gly) c.662A>G (p.Glu221Gly) | |
2 | g.144404040T>G | CA348714837 | ZEB2 | c.*532A>C (n.*532A>C) c.-95A>C (n.-95A>C) c.683A>C (p.Glu228Ala) n.652A>C c.347A>C (p.Glu116Ala) c.*400A>C (n.*400A>C) n.783A>C c.-133-5190A>C (n.-133-5190A>C) c.680A>C (p.Glu227Ala) c.767A>C (p.Glu256Ala) c.422A>C (p.Glu141Ala) c.770A>C (p.Glu257Ala) c.668A>C (p.Glu223Ala) n.629A>C c.611A>C (p.Glu204Ala) c.674A>C (p.Glu225Ala) c.662A>C (p.Glu221Ala) | |
2 | g.144404041C>A | CA348714839 | ZEB2 | c.*531G>T (n.*531G>T) c.-96G>T (n.-96G>T) c.682G>T (p.Glu228Ter) n.651G>T c.346G>T (p.Glu116Ter) c.*399G>T (n.*399G>T) n.782G>T c.-133-5191G>T (n.-133-5191G>T) c.679G>T (p.Glu227Ter) c.766G>T (p.Glu256Ter) c.421G>T (p.Glu141Ter) c.769G>T (p.Glu257Ter) c.667G>T (p.Glu223Ter) n.628G>T c.610G>T (p.Glu204Ter) c.673G>T (p.Glu225Ter) c.661G>T (p.Glu221Ter) | |
2 | g.144404041C>G | CA348714840 | ZEB2 | c.*531G>C (n.*531G>C) c.-96G>C (n.-96G>C) c.682G>C (p.Glu228Gln) n.651G>C c.346G>C (p.Glu116Gln) c.*399G>C (n.*399G>C) n.782G>C c.-133-5191G>C (n.-133-5191G>C) c.679G>C (p.Glu227Gln) c.766G>C (p.Glu256Gln) c.421G>C (p.Glu141Gln) c.769G>C (p.Glu257Gln) c.667G>C (p.Glu223Gln) n.628G>C c.610G>C (p.Glu204Gln) c.673G>C (p.Glu225Gln) c.661G>C (p.Glu221Gln) | |
2 | g.144404041C>T | CA348714841 | ZEB2 | c.*531G>A (n.*531G>A) c.-96G>A (n.-96G>A) c.682G>A (p.Glu228Lys) n.651G>A c.346G>A (p.Glu116Lys) c.*399G>A (n.*399G>A) n.782G>A c.-133-5191G>A (n.-133-5191G>A) c.679G>A (p.Glu227Lys) c.766G>A (p.Glu256Lys) c.421G>A (p.Glu141Lys) c.769G>A (p.Glu257Lys) c.667G>A (p.Glu223Lys) n.628G>A c.610G>A (p.Glu204Lys) c.673G>A (p.Glu225Lys) c.661G>A (p.Glu221Lys) | |
2 | g.144404042C>A | CA348714842 | ZEB2 | c.*530G>T (n.*530G>T) c.-97G>T (n.-97G>T) c.681G>T (p.Lys227Asn) n.650G>T c.345G>T (p.Lys115Asn) c.*398G>T (n.*398G>T) n.781G>T c.-133-5192G>T (n.-133-5192G>T) c.678G>T (p.Lys226Asn) c.765G>T (p.Lys255Asn) c.420G>T (p.Lys140Asn) c.768G>T (p.Lys256Asn) c.666G>T (p.Lys222Asn) n.627G>T c.609G>T (p.Lys203Asn) c.672G>T (p.Lys224Asn) c.660G>T (p.Lys220Asn) | |
2 | g.144404042C>G | CA348714843 | ZEB2 | c.*530G>C (n.*530G>C) c.-97G>C (n.-97G>C) c.681G>C (p.Lys227Asn) n.650G>C c.345G>C (p.Lys115Asn) c.*398G>C (n.*398G>C) n.781G>C c.-133-5192G>C (n.-133-5192G>C) c.678G>C (p.Lys226Asn) c.765G>C (p.Lys255Asn) c.420G>C (p.Lys140Asn) c.768G>C (p.Lys256Asn) c.666G>C (p.Lys222Asn) n.627G>C c.609G>C (p.Lys203Asn) c.672G>C (p.Lys224Asn) c.660G>C (p.Lys220Asn) | |
2 | g.144404042C>T | CA429218568 | ZEB2 | c.*530G>A (n.*530G>A) c.-97G>A (n.-97G>A) c.681G>A (p.Lys227=) n.650G>A c.345G>A (p.Lys115=) c.*398G>A (n.*398G>A) n.781G>A c.-133-5192G>A (n.-133-5192G>A) c.678G>A (p.Lys226=) c.765G>A (p.Lys255=) c.420G>A (p.Lys140=) c.768G>A (p.Lys256=) c.666G>A (p.Lys222=) n.627G>A c.609G>A (p.Lys203=) c.672G>A (p.Lys224=) c.660G>A (p.Lys220=) | gnomAD v4 COSMIC |
2 | g.144404043T>A | CA348714844 | ZEB2 | c.*529A>T (n.*529A>T) c.-98A>T (n.-98A>T) c.680A>T (p.Lys227Met) n.649A>T c.344A>T (p.Lys115Met) c.*397A>T (n.*397A>T) n.780A>T c.-133-5193A>T (n.-133-5193A>T) c.677A>T (p.Lys226Met) c.764A>T (p.Lys255Met) c.419A>T (p.Lys140Met) c.767A>T (p.Lys256Met) c.665A>T (p.Lys222Met) n.626A>T c.608A>T (p.Lys203Met) c.671A>T (p.Lys224Met) c.659A>T (p.Lys220Met) | |
2 | g.144404043T>C | CA348714846 | ZEB2 | c.*529A>G (n.*529A>G) c.-98A>G (n.-98A>G) c.680A>G (p.Lys227Arg) n.649A>G c.344A>G (p.Lys115Arg) c.*397A>G (n.*397A>G) n.780A>G c.-133-5193A>G (n.-133-5193A>G) c.677A>G (p.Lys226Arg) c.764A>G (p.Lys255Arg) c.419A>G (p.Lys140Arg) c.767A>G (p.Lys256Arg) c.665A>G (p.Lys222Arg) n.626A>G c.608A>G (p.Lys203Arg) c.671A>G (p.Lys224Arg) c.659A>G (p.Lys220Arg) | |
2 | g.144404043T>G | CA348714845 | ZEB2 | c.*529A>C (n.*529A>C) c.-98A>C (n.-98A>C) c.680A>C (p.Lys227Thr) n.649A>C c.344A>C (p.Lys115Thr) c.*397A>C (n.*397A>C) n.780A>C c.-133-5193A>C (n.-133-5193A>C) c.677A>C (p.Lys226Thr) c.764A>C (p.Lys255Thr) c.419A>C (p.Lys140Thr) c.767A>C (p.Lys256Thr) c.665A>C (p.Lys222Thr) n.626A>C c.608A>C (p.Lys203Thr) c.671A>C (p.Lys224Thr) c.659A>C (p.Lys220Thr) | |
2 | g.144404044T>A | CA348714847 | ZEB2 | c.*528A>T (n.*528A>T) c.-99A>T (n.-99A>T) c.679A>T (p.Lys227Ter) n.648A>T c.343A>T (p.Lys115Ter) c.*396A>T (n.*396A>T) n.779A>T c.-133-5194A>T (n.-133-5194A>T) c.676A>T (p.Lys226Ter) c.763A>T (p.Lys255Ter) c.418A>T (p.Lys140Ter) c.766A>T (p.Lys256Ter) c.664A>T (p.Lys222Ter) n.625A>T c.607A>T (p.Lys203Ter) c.670A>T (p.Lys224Ter) c.658A>T (p.Lys220Ter) | |
2 | g.144404044T>C | CA348714848 | ZEB2 | c.*528A>G (n.*528A>G) c.-99A>G (n.-99A>G) c.679A>G (p.Lys227Glu) n.648A>G c.343A>G (p.Lys115Glu) c.*396A>G (n.*396A>G) n.779A>G c.-133-5194A>G (n.-133-5194A>G) c.676A>G (p.Lys226Glu) c.763A>G (p.Lys255Glu) c.418A>G (p.Lys140Glu) c.766A>G (p.Lys256Glu) c.664A>G (p.Lys222Glu) n.625A>G c.607A>G (p.Lys203Glu) c.670A>G (p.Lys224Glu) c.658A>G (p.Lys220Glu) | |
2 | g.144404044T>G | CA348714849 | ZEB2 | c.*528A>C (n.*528A>C) c.-99A>C (n.-99A>C) c.679A>C (p.Lys227Gln) n.648A>C c.343A>C (p.Lys115Gln) c.*396A>C (n.*396A>C) n.779A>C c.-133-5194A>C (n.-133-5194A>C) c.676A>C (p.Lys226Gln) c.763A>C (p.Lys255Gln) c.418A>C (p.Lys140Gln) c.766A>C (p.Lys256Gln) c.664A>C (p.Lys222Gln) n.625A>C c.607A>C (p.Lys203Gln) c.670A>C (p.Lys224Gln) c.658A>C (p.Lys220Gln) | |
2 | g.144404045C>A | CA429218573 | ZEB2 | c.*527G>T (n.*527G>T) c.-100G>T (n.-100G>T) c.678G>T (p.Leu226=) n.647G>T c.342G>T (p.Leu114=) c.*395G>T (n.*395G>T) n.778G>T c.-133-5195G>T (n.-133-5195G>T) c.675G>T (p.Leu225=) c.762G>T (p.Leu254=) c.417G>T (p.Leu139=) c.765G>T (p.Leu255=) c.663G>T (p.Leu221=) n.624G>T c.606G>T (p.Leu202=) c.669G>T (p.Leu223=) c.657G>T (p.Leu219=) | |
2 | g.144404045C>G | CA429218574 | ZEB2 | c.*527G>C (n.*527G>C) c.-100G>C (n.-100G>C) c.678G>C (p.Leu226=) n.647G>C c.342G>C (p.Leu114=) c.*395G>C (n.*395G>C) n.778G>C c.-133-5195G>C (n.-133-5195G>C) c.675G>C (p.Leu225=) c.762G>C (p.Leu254=) c.417G>C (p.Leu139=) c.765G>C (p.Leu255=) c.663G>C (p.Leu221=) n.624G>C c.606G>C (p.Leu202=) c.669G>C (p.Leu223=) c.657G>C (p.Leu219=) | ClinVar dbSNP gnomAD v4 |
2 | g.144404045C>T | CA429218575 | ZEB2 | c.*527G>A (n.*527G>A) c.-100G>A (n.-100G>A) c.678G>A (p.Leu226=) n.647G>A c.342G>A (p.Leu114=) c.*395G>A (n.*395G>A) n.778G>A c.-133-5195G>A (n.-133-5195G>A) c.675G>A (p.Leu225=) c.762G>A (p.Leu254=) c.417G>A (p.Leu139=) c.765G>A (p.Leu255=) c.663G>A (p.Leu221=) n.624G>A c.606G>A (p.Leu202=) c.669G>A (p.Leu223=) c.657G>A (p.Leu219=) | ClinVar |
2 | g.144404046A>C | CA348714850 | ZEB2 | c.*526T>G (n.*526T>G) c.-101T>G (n.-101T>G) c.677T>G (p.Leu226Arg) n.646T>G c.341T>G (p.Leu114Arg) c.*394T>G (n.*394T>G) n.777T>G c.-133-5196T>G (n.-133-5196T>G) c.674T>G (p.Leu225Arg) c.761T>G (p.Leu254Arg) c.416T>G (p.Leu139Arg) c.764T>G (p.Leu255Arg) c.662T>G (p.Leu221Arg) n.623T>G c.605T>G (p.Leu202Arg) c.668T>G (p.Leu223Arg) c.656T>G (p.Leu219Arg) | |
2 | g.144404046A>G | CA348714851 | ZEB2 | c.*526T>C (n.*526T>C) c.-101T>C (n.-101T>C) c.677T>C (p.Leu226Pro) n.646T>C c.341T>C (p.Leu114Pro) c.*394T>C (n.*394T>C) n.777T>C c.-133-5196T>C (n.-133-5196T>C) c.674T>C (p.Leu225Pro) c.761T>C (p.Leu254Pro) c.416T>C (p.Leu139Pro) c.764T>C (p.Leu255Pro) c.662T>C (p.Leu221Pro) n.623T>C c.605T>C (p.Leu202Pro) c.668T>C (p.Leu223Pro) c.656T>C (p.Leu219Pro) | COSMIC |
2 | g.144404046A>T | CA348714852 | ZEB2 | c.*526T>A (n.*526T>A) c.-101T>A (n.-101T>A) c.677T>A (p.Leu226Gln) n.646T>A c.341T>A (p.Leu114Gln) c.*394T>A (n.*394T>A) n.777T>A c.-133-5196T>A (n.-133-5196T>A) c.674T>A (p.Leu225Gln) c.761T>A (p.Leu254Gln) c.416T>A (p.Leu139Gln) c.764T>A (p.Leu255Gln) c.662T>A (p.Leu221Gln) n.623T>A c.605T>A (p.Leu202Gln) c.668T>A (p.Leu223Gln) c.656T>A (p.Leu219Gln) | |
2 | g.144404047G>A | CA429218577 | ZEB2 | c.*525C>T (n.*525C>T) c.-102C>T (n.-102C>T) c.676C>T (p.Leu226=) n.645C>T c.340C>T (p.Leu114=) c.*393C>T (n.*393C>T) n.776C>T c.-133-5197C>T (n.-133-5197C>T) c.673C>T (p.Leu225=) c.760C>T (p.Leu254=) c.415C>T (p.Leu139=) c.763C>T (p.Leu255=) c.661C>T (p.Leu221=) n.622C>T c.604C>T (p.Leu202=) c.667C>T (p.Leu223=) c.655C>T (p.Leu219=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.144404047G>C | CA348714853 | ZEB2 | c.*525C>G (n.*525C>G) c.-102C>G (n.-102C>G) c.676C>G (p.Leu226Val) n.645C>G c.340C>G (p.Leu114Val) c.*393C>G (n.*393C>G) n.776C>G c.-133-5197C>G (n.-133-5197C>G) c.673C>G (p.Leu225Val) c.760C>G (p.Leu254Val) c.415C>G (p.Leu139Val) c.763C>G (p.Leu255Val) c.661C>G (p.Leu221Val) n.622C>G c.604C>G (p.Leu202Val) c.667C>G (p.Leu223Val) c.655C>G (p.Leu219Val) | |
2 | g.144404047G= | CA1294887210 | ZEB2 | c.*525C= (n.*525C=) c.-102C= (n.-102C=) c.676C= (p.Leu226=) n.645C= c.340C= (p.Leu114=) c.*393C= (n.*393C=) n.776C= c.-133-5197C= (n.-133-5197C=) c.673C= (p.Leu225=) c.760C= (p.Leu254=) c.415C= (p.Leu139=) c.763C= (p.Leu255=) c.661C= (p.Leu221=) n.622C= c.604C= (p.Leu202=) c.667C= (p.Leu223=) c.655C= (p.Leu219=) | |
2 | g.144404047G>T | CA348714854 | ZEB2 | c.*525C>A (n.*525C>A) c.-102C>A (n.-102C>A) c.676C>A (p.Leu226Met) n.645C>A c.340C>A (p.Leu114Met) c.*393C>A (n.*393C>A) n.776C>A c.-133-5197C>A (n.-133-5197C>A) c.673C>A (p.Leu225Met) c.760C>A (p.Leu254Met) c.415C>A (p.Leu139Met) c.763C>A (p.Leu255Met) c.661C>A (p.Leu221Met) n.622C>A c.604C>A (p.Leu202Met) c.667C>A (p.Leu223Met) c.655C>A (p.Leu219Met) | |
2 | g.144404048T>A | CA429218578 | ZEB2 | c.*524A>T (n.*524A>T) c.-103A>T (n.-103A>T) c.675A>T (p.Ser225=) n.644A>T c.339A>T (p.Ser113=) c.*392A>T (n.*392A>T) n.775A>T c.-133-5198A>T (n.-133-5198A>T) c.672A>T (p.Ser224=) c.759A>T (p.Ser253=) c.414A>T (p.Ser138=) c.762A>T (p.Ser254=) c.660A>T (p.Ser220=) n.621A>T c.603A>T (p.Ser201=) c.666A>T (p.Ser222=) c.654A>T (p.Ser218=) | |
2 | g.144404048T>C | CA429218580 | ZEB2 | c.*524A>G (n.*524A>G) c.-103A>G (n.-103A>G) c.675A>G (p.Ser225=) n.644A>G c.339A>G (p.Ser113=) c.*392A>G (n.*392A>G) n.775A>G c.-133-5198A>G (n.-133-5198A>G) c.672A>G (p.Ser224=) c.759A>G (p.Ser253=) c.414A>G (p.Ser138=) c.762A>G (p.Ser254=) c.660A>G (p.Ser220=) n.621A>G c.603A>G (p.Ser201=) c.666A>G (p.Ser222=) c.654A>G (p.Ser218=) | gnomAD v4 COSMIC |
2 | g.144404048T>G | CA429218581 | ZEB2 | c.*524A>C (n.*524A>C) c.-103A>C (n.-103A>C) c.675A>C (p.Ser225=) n.644A>C c.339A>C (p.Ser113=) c.*392A>C (n.*392A>C) n.775A>C c.-133-5198A>C (n.-133-5198A>C) c.672A>C (p.Ser224=) c.759A>C (p.Ser253=) c.414A>C (p.Ser138=) c.762A>C (p.Ser254=) c.660A>C (p.Ser220=) n.621A>C c.603A>C (p.Ser201=) c.666A>C (p.Ser222=) c.654A>C (p.Ser218=) | ClinVar dbSNP |
2 | g.144404049G>A | CA348714855 | ZEB2 | c.*523C>T (n.*523C>T) c.-104C>T (n.-104C>T) c.674C>T (p.Ser225Leu) n.643C>T c.338C>T (p.Ser113Leu) c.*391C>T (n.*391C>T) n.774C>T c.-133-5199C>T (n.-133-5199C>T) c.671C>T (p.Ser224Leu) c.758C>T (p.Ser253Leu) c.413C>T (p.Ser138Leu) c.761C>T (p.Ser254Leu) c.659C>T (p.Ser220Leu) n.620C>T c.602C>T (p.Ser201Leu) c.665C>T (p.Ser222Leu) c.653C>T (p.Ser218Leu) | |
2 | g.144404049G>C | CA348714856 | ZEB2 | c.*523C>G (n.*523C>G) c.-104C>G (n.-104C>G) c.674C>G (p.Ser225Ter) n.643C>G c.338C>G (p.Ser113Ter) c.*391C>G (n.*391C>G) n.774C>G c.-133-5199C>G (n.-133-5199C>G) c.671C>G (p.Ser224Ter) c.758C>G (p.Ser253Ter) c.413C>G (p.Ser138Ter) c.761C>G (p.Ser254Ter) c.659C>G (p.Ser220Ter) n.620C>G c.602C>G (p.Ser201Ter) c.665C>G (p.Ser222Ter) c.653C>G (p.Ser218Ter) | |
2 | g.144404049G= | CA1294887211 | ZEB2 | c.*523C= (n.*523C=) c.-104C= (n.-104C=) c.674C= (p.Ser225=) n.643C= c.338C= (p.Ser113=) c.*391C= (n.*391C=) n.774C= c.-133-5199C= (n.-133-5199C=) c.671C= (p.Ser224=) c.758C= (p.Ser253=) c.413C= (p.Ser138=) c.761C= (p.Ser254=) c.659C= (p.Ser220=) n.620C= c.602C= (p.Ser201=) c.665C= (p.Ser222=) c.653C= (p.Ser218=) | |
2 | g.144404049G>T | CA277036 | ZEB2 | c.*523C>A (n.*523C>A) c.-104C>A (n.-104C>A) c.674C>A (p.Ser225Ter) n.643C>A c.338C>A (p.Ser113Ter) c.*391C>A (n.*391C>A) n.774C>A c.-133-5199C>A (n.-133-5199C>A) c.671C>A (p.Ser224Ter) c.758C>A (p.Ser253Ter) c.413C>A (p.Ser138Ter) c.761C>A (p.Ser254Ter) c.659C>A (p.Ser220Ter) n.620C>A c.602C>A (p.Ser201Ter) c.665C>A (p.Ser222Ter) c.653C>A (p.Ser218Ter) | ClinVar dbSNP |
2 | g.144404050A>C | CA348714857 | ZEB2 | c.*522T>G (n.*522T>G) c.-105T>G (n.-105T>G) c.673T>G (p.Ser225Ala) n.642T>G c.337T>G (p.Ser113Ala) c.*390T>G (n.*390T>G) n.773T>G c.-133-5200T>G (n.-133-5200T>G) c.670T>G (p.Ser224Ala) c.757T>G (p.Ser253Ala) c.412T>G (p.Ser138Ala) c.760T>G (p.Ser254Ala) c.658T>G (p.Ser220Ala) n.619T>G c.601T>G (p.Ser201Ala) c.664T>G (p.Ser222Ala) c.652T>G (p.Ser218Ala) | |
2 | g.144404050A>G | CA348714859 | ZEB2 | c.*522T>C (n.*522T>C) c.-105T>C (n.-105T>C) c.673T>C (p.Ser225Pro) n.642T>C c.337T>C (p.Ser113Pro) c.*390T>C (n.*390T>C) n.773T>C c.-133-5200T>C (n.-133-5200T>C) c.670T>C (p.Ser224Pro) c.757T>C (p.Ser253Pro) c.412T>C (p.Ser138Pro) c.760T>C (p.Ser254Pro) c.658T>C (p.Ser220Pro) n.619T>C c.601T>C (p.Ser201Pro) c.664T>C (p.Ser222Pro) c.652T>C (p.Ser218Pro) | COSMIC |
2 | g.144404050A>T | CA348714858 | ZEB2 | c.*522T>A (n.*522T>A) c.-105T>A (n.-105T>A) c.673T>A (p.Ser225Thr) n.642T>A c.337T>A (p.Ser113Thr) c.*390T>A (n.*390T>A) n.773T>A c.-133-5200T>A (n.-133-5200T>A) c.670T>A (p.Ser224Thr) c.757T>A (p.Ser253Thr) c.412T>A (p.Ser138Thr) c.760T>A (p.Ser254Thr) c.658T>A (p.Ser220Thr) n.619T>A c.601T>A (p.Ser201Thr) c.664T>A (p.Ser222Thr) c.652T>A (p.Ser218Thr) | |
2 | g.144404051T>A | CA429218582 | ZEB2 | c.*521A>T (n.*521A>T) c.-106A>T (n.-106A>T) c.672A>T (p.Thr224=) n.641A>T c.336A>T (p.Thr112=) c.*389A>T (n.*389A>T) n.772A>T c.-133-5201A>T (n.-133-5201A>T) c.669A>T (p.Thr223=) c.756A>T (p.Thr252=) c.411A>T (p.Thr137=) c.759A>T (p.Thr253=) c.657A>T (p.Thr219=) n.618A>T c.600A>T (p.Thr200=) c.663A>T (p.Thr221=) c.651A>T (p.Thr217=) | |
2 | g.144404051T>C | CA429218583 | ZEB2 | c.*521A>G (n.*521A>G) c.-106A>G (n.-106A>G) c.672A>G (p.Thr224=) n.641A>G c.336A>G (p.Thr112=) c.*389A>G (n.*389A>G) n.772A>G c.-133-5201A>G (n.-133-5201A>G) c.669A>G (p.Thr223=) c.756A>G (p.Thr252=) c.411A>G (p.Thr137=) c.759A>G (p.Thr253=) c.657A>G (p.Thr219=) n.618A>G c.600A>G (p.Thr200=) c.663A>G (p.Thr221=) c.651A>G (p.Thr217=) | ClinVar dbSNP gnomAD v4 |
2 | g.144404051T>G | CA429218584 | ZEB2 | c.*521A>C (n.*521A>C) c.-106A>C (n.-106A>C) c.672A>C (p.Thr224=) n.641A>C c.336A>C (p.Thr112=) c.*389A>C (n.*389A>C) n.772A>C c.-133-5201A>C (n.-133-5201A>C) c.669A>C (p.Thr223=) c.756A>C (p.Thr252=) c.411A>C (p.Thr137=) c.759A>C (p.Thr253=) c.657A>C (p.Thr219=) n.618A>C c.600A>C (p.Thr200=) c.663A>C (p.Thr221=) c.651A>C (p.Thr217=) | |
2 | g.144404052G>A | CA348714860 | ZEB2 | c.*520C>T (n.*520C>T) c.-107C>T (n.-107C>T) c.671C>T (p.Thr224Ile) n.640C>T c.335C>T (p.Thr112Ile) c.*388C>T (n.*388C>T) n.771C>T c.-133-5202C>T (n.-133-5202C>T) c.668C>T (p.Thr223Ile) c.755C>T (p.Thr252Ile) c.410C>T (p.Thr137Ile) c.758C>T (p.Thr253Ile) c.656C>T (p.Thr219Ile) n.617C>T c.599C>T (p.Thr200Ile) c.662C>T (p.Thr221Ile) c.650C>T (p.Thr217Ile) | |
2 | g.144404052G>C | CA348714861 | ZEB2 | c.*520C>G (n.*520C>G) c.-107C>G (n.-107C>G) c.671C>G (p.Thr224Arg) n.640C>G c.335C>G (p.Thr112Arg) c.*388C>G (n.*388C>G) n.771C>G c.-133-5202C>G (n.-133-5202C>G) c.668C>G (p.Thr223Arg) c.755C>G (p.Thr252Arg) c.410C>G (p.Thr137Arg) c.758C>G (p.Thr253Arg) c.656C>G (p.Thr219Arg) n.617C>G c.599C>G (p.Thr200Arg) c.662C>G (p.Thr221Arg) c.650C>G (p.Thr217Arg) | |
2 | g.144404052G>T | CA348714862 | ZEB2 | c.*520C>A (n.*520C>A) c.-107C>A (n.-107C>A) c.671C>A (p.Thr224Lys) n.640C>A c.335C>A (p.Thr112Lys) c.*388C>A (n.*388C>A) n.771C>A c.-133-5202C>A (n.-133-5202C>A) c.668C>A (p.Thr223Lys) c.755C>A (p.Thr252Lys) c.410C>A (p.Thr137Lys) c.758C>A (p.Thr253Lys) c.656C>A (p.Thr219Lys) n.617C>A c.599C>A (p.Thr200Lys) c.662C>A (p.Thr221Lys) c.650C>A (p.Thr217Lys) | |
2 | g.144404053T>A | CA348714863 | ZEB2 | c.*519A>T (n.*519A>T) c.-108A>T (n.-108A>T) c.670A>T (p.Thr224Ser) n.639A>T c.334A>T (p.Thr112Ser) c.*387A>T (n.*387A>T) n.770A>T c.-133-5203A>T (n.-133-5203A>T) c.667A>T (p.Thr223Ser) c.754A>T (p.Thr252Ser) c.409A>T (p.Thr137Ser) c.757A>T (p.Thr253Ser) c.655A>T (p.Thr219Ser) n.616A>T c.598A>T (p.Thr200Ser) c.661A>T (p.Thr221Ser) c.649A>T (p.Thr217Ser) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.144404053T>C | CA348714864 | ZEB2 | c.*519A>G (n.*519A>G) c.-108A>G (n.-108A>G) c.670A>G (p.Thr224Ala) n.639A>G c.334A>G (p.Thr112Ala) c.*387A>G (n.*387A>G) n.770A>G c.-133-5203A>G (n.-133-5203A>G) c.667A>G (p.Thr223Ala) c.754A>G (p.Thr252Ala) c.409A>G (p.Thr137Ala) c.757A>G (p.Thr253Ala) c.655A>G (p.Thr219Ala) n.616A>G c.598A>G (p.Thr200Ala) c.661A>G (p.Thr221Ala) c.649A>G (p.Thr217Ala) | |
2 | g.144404053T>G | CA348714865 | ZEB2 | c.*519A>C (n.*519A>C) c.-108A>C (n.-108A>C) c.670A>C (p.Thr224Pro) n.639A>C c.334A>C (p.Thr112Pro) c.*387A>C (n.*387A>C) n.770A>C c.-133-5203A>C (n.-133-5203A>C) c.667A>C (p.Thr223Pro) c.754A>C (p.Thr252Pro) c.409A>C (p.Thr137Pro) c.757A>C (p.Thr253Pro) c.655A>C (p.Thr219Pro) n.616A>C c.598A>C (p.Thr200Pro) c.661A>C (p.Thr221Pro) c.649A>C (p.Thr217Pro) | |
2 | g.144404053T= | CA1294887212 | ZEB2 | c.*519A= (n.*519A=) c.-108A= (n.-108A=) c.670A= (p.Thr224=) n.639A= c.334A= (p.Thr112=) c.*387A= (n.*387A=) n.770A= c.-133-5203A= (n.-133-5203A=) c.667A= (p.Thr223=) c.754A= (p.Thr252=) c.409A= (p.Thr137=) c.757A= (p.Thr253=) c.655A= (p.Thr219=) n.616A= c.598A= (p.Thr200=) c.661A= (p.Thr221=) c.649A= (p.Thr217=) | |
2 | g.144404054C>A | CA348714867 | ZEB2 | c.*518G>T (n.*518G>T) c.-109G>T (n.-109G>T) c.669G>T (p.Leu223Phe) n.638G>T c.333G>T (p.Leu111Phe) c.*386G>T (n.*386G>T) n.769G>T c.-133-5204G>T (n.-133-5204G>T) c.666G>T (p.Leu222Phe) c.753G>T (p.Leu251Phe) c.408G>T (p.Leu136Phe) c.756G>T (p.Leu252Phe) c.654G>T (p.Leu218Phe) n.615G>T c.597G>T (p.Leu199Phe) c.660G>T (p.Leu220Phe) c.648G>T (p.Leu216Phe) | |
2 | g.144404054C>G | CA348714866 | ZEB2 | c.*518G>C (n.*518G>C) c.-109G>C (n.-109G>C) c.669G>C (p.Leu223Phe) n.638G>C c.333G>C (p.Leu111Phe) c.*386G>C (n.*386G>C) n.769G>C c.-133-5204G>C (n.-133-5204G>C) c.666G>C (p.Leu222Phe) c.753G>C (p.Leu251Phe) c.408G>C (p.Leu136Phe) c.756G>C (p.Leu252Phe) c.654G>C (p.Leu218Phe) n.615G>C c.597G>C (p.Leu199Phe) c.660G>C (p.Leu220Phe) c.648G>C (p.Leu216Phe) | |
2 | g.144404054C>T | CA429218586 | ZEB2 | c.*518G>A (n.*518G>A) c.-109G>A (n.-109G>A) c.669G>A (p.Leu223=) n.638G>A c.333G>A (p.Leu111=) c.*386G>A (n.*386G>A) n.769G>A c.-133-5204G>A (n.-133-5204G>A) c.666G>A (p.Leu222=) c.753G>A (p.Leu251=) c.408G>A (p.Leu136=) c.756G>A (p.Leu252=) c.654G>A (p.Leu218=) n.615G>A c.597G>A (p.Leu199=) c.660G>A (p.Leu220=) c.648G>A (p.Leu216=) | |
2 | g.144404055A>C | CA348714868 | ZEB2 | c.*517T>G (n.*517T>G) c.-110T>G (n.-110T>G) c.668T>G (p.Leu223Trp) n.637T>G c.332T>G (p.Leu111Trp) c.*385T>G (n.*385T>G) n.768T>G c.-133-5205T>G (n.-133-5205T>G) c.665T>G (p.Leu222Trp) c.752T>G (p.Leu251Trp) c.407T>G (p.Leu136Trp) c.755T>G (p.Leu252Trp) c.653T>G (p.Leu218Trp) n.614T>G c.596T>G (p.Leu199Trp) c.659T>G (p.Leu220Trp) c.647T>G (p.Leu216Trp) | |
2 | g.144404055A>G | CA348714869 | ZEB2 | c.*517T>C (n.*517T>C) c.-110T>C (n.-110T>C) c.668T>C (p.Leu223Ser) n.637T>C c.332T>C (p.Leu111Ser) c.*385T>C (n.*385T>C) n.768T>C c.-133-5205T>C (n.-133-5205T>C) c.665T>C (p.Leu222Ser) c.752T>C (p.Leu251Ser) c.407T>C (p.Leu136Ser) c.755T>C (p.Leu252Ser) c.653T>C (p.Leu218Ser) n.614T>C c.596T>C (p.Leu199Ser) c.659T>C (p.Leu220Ser) c.647T>C (p.Leu216Ser) | |
2 | g.144404055A>T | CA348714870 | ZEB2 | c.*517T>A (n.*517T>A) c.-110T>A (n.-110T>A) c.668T>A (p.Leu223Ter) n.637T>A c.332T>A (p.Leu111Ter) c.*385T>A (n.*385T>A) n.768T>A c.-133-5205T>A (n.-133-5205T>A) c.665T>A (p.Leu222Ter) c.752T>A (p.Leu251Ter) c.407T>A (p.Leu136Ter) c.755T>A (p.Leu252Ter) c.653T>A (p.Leu218Ter) n.614T>A c.596T>A (p.Leu199Ter) c.659T>A (p.Leu220Ter) c.647T>A (p.Leu216Ter) | |
2 | g.144404056A>C | CA348714871 | ZEB2 | c.*516T>G (n.*516T>G) c.-111T>G (n.-111T>G) c.667T>G (p.Leu223Val) n.636T>G c.331T>G (p.Leu111Val) c.*384T>G (n.*384T>G) n.767T>G c.-133-5206T>G (n.-133-5206T>G) c.664T>G (p.Leu222Val) c.751T>G (p.Leu251Val) c.406T>G (p.Leu136Val) c.754T>G (p.Leu252Val) c.652T>G (p.Leu218Val) n.613T>G c.595T>G (p.Leu199Val) c.658T>G (p.Leu220Val) c.646T>G (p.Leu216Val) | |
2 | g.144404056A>G | CA429218590 | ZEB2 | c.*516T>C (n.*516T>C) c.-111T>C (n.-111T>C) c.667T>C (p.Leu223=) n.636T>C c.331T>C (p.Leu111=) c.*384T>C (n.*384T>C) n.767T>C c.-133-5206T>C (n.-133-5206T>C) c.664T>C (p.Leu222=) c.751T>C (p.Leu251=) c.406T>C (p.Leu136=) c.754T>C (p.Leu252=) c.652T>C (p.Leu218=) n.613T>C c.595T>C (p.Leu199=) c.658T>C (p.Leu220=) c.646T>C (p.Leu216=) | ClinVar dbSNP |
2 | g.144404056A>T | CA348714872 | ZEB2 | c.*516T>A (n.*516T>A) c.-111T>A (n.-111T>A) c.667T>A (p.Leu223Met) n.636T>A c.331T>A (p.Leu111Met) c.*384T>A (n.*384T>A) n.767T>A c.-133-5206T>A (n.-133-5206T>A) c.664T>A (p.Leu222Met) c.751T>A (p.Leu251Met) c.406T>A (p.Leu136Met) c.754T>A (p.Leu252Met) c.652T>A (p.Leu218Met) n.613T>A c.595T>A (p.Leu199Met) c.658T>A (p.Leu220Met) c.646T>A (p.Leu216Met) | |
2 | g.144404057G>A | CA1898429 | ZEB2 | c.*515C>T (n.*515C>T) c.-112C>T (n.-112C>T) c.666C>T (p.Arg222=) n.635C>T c.330C>T (p.Arg110=) c.*383C>T (n.*383C>T) n.766C>T c.-133-5207C>T (n.-133-5207C>T) c.663C>T (p.Arg221=) c.750C>T (p.Arg250=) c.405C>T (p.Arg135=) c.753C>T (p.Arg251=) c.651C>T (p.Arg217=) n.612C>T c.594C>T (p.Arg198=) c.657C>T (p.Arg219=) c.645C>T (p.Arg215=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.144404057G>C | CA429218591 | ZEB2 | c.*515C>G (n.*515C>G) c.-112C>G (n.-112C>G) c.666C>G (p.Arg222=) n.635C>G c.330C>G (p.Arg110=) c.*383C>G (n.*383C>G) n.766C>G c.-133-5207C>G (n.-133-5207C>G) c.663C>G (p.Arg221=) c.750C>G (p.Arg250=) c.405C>G (p.Arg135=) c.753C>G (p.Arg251=) c.651C>G (p.Arg217=) n.612C>G c.594C>G (p.Arg198=) c.657C>G (p.Arg219=) c.645C>G (p.Arg215=) | |
2 | g.144404057G= | CA1294887213 | ZEB2 | c.*515C= (n.*515C=) c.-112C= (n.-112C=) c.666C= (p.Arg222=) n.635C= c.330C= (p.Arg110=) c.*383C= (n.*383C=) n.766C= c.-133-5207C= (n.-133-5207C=) c.663C= (p.Arg221=) c.750C= (p.Arg250=) c.405C= (p.Arg135=) c.753C= (p.Arg251=) c.651C= (p.Arg217=) n.612C= c.594C= (p.Arg198=) c.657C= (p.Arg219=) c.645C= (p.Arg215=) | |
2 | g.144404057G>T | CA429218592 | ZEB2 | c.*515C>A (n.*515C>A) c.-112C>A (n.-112C>A) c.666C>A (p.Arg222=) n.635C>A c.330C>A (p.Arg110=) c.*383C>A (n.*383C>A) n.766C>A c.-133-5207C>A (n.-133-5207C>A) c.663C>A (p.Arg221=) c.750C>A (p.Arg250=) c.405C>A (p.Arg135=) c.753C>A (p.Arg251=) c.651C>A (p.Arg217=) n.612C>A c.594C>A (p.Arg198=) c.657C>A (p.Arg219=) c.645C>A (p.Arg215=) | |
2 | g.144404058C>A | CA348714875 | ZEB2 | c.*514G>T (n.*514G>T) c.-113G>T (n.-113G>T) c.665G>T (p.Arg222Leu) n.634G>T c.329G>T (p.Arg110Leu) c.*382G>T (n.*382G>T) n.765G>T c.-133-5208G>T (n.-133-5208G>T) c.662G>T (p.Arg221Leu) c.749G>T (p.Arg250Leu) c.404G>T (p.Arg135Leu) c.752G>T (p.Arg251Leu) c.650G>T (p.Arg217Leu) n.611G>T c.593G>T (p.Arg198Leu) c.656G>T (p.Arg219Leu) c.644G>T (p.Arg215Leu) | |
2 | g.144404058C= | CA1294887214 | ZEB2 | c.*514G= (n.*514G=) c.-113G= (n.-113G=) c.665G= (p.Arg222=) n.634G= c.329G= (p.Arg110=) c.*382G= (n.*382G=) n.765G= c.-133-5208G= (n.-133-5208G=) c.662G= (p.Arg221=) c.749G= (p.Arg250=) c.404G= (p.Arg135=) c.752G= (p.Arg251=) c.650G= (p.Arg217=) n.611G= c.593G= (p.Arg198=) c.656G= (p.Arg219=) c.644G= (p.Arg215=) | |
2 | g.144404058C>G | CA348714873 | ZEB2 | c.*514G>C (n.*514G>C) c.-113G>C (n.-113G>C) c.665G>C (p.Arg222Pro) n.634G>C c.329G>C (p.Arg110Pro) c.*382G>C (n.*382G>C) n.765G>C c.-133-5208G>C (n.-133-5208G>C) c.662G>C (p.Arg221Pro) c.749G>C (p.Arg250Pro) c.404G>C (p.Arg135Pro) c.752G>C (p.Arg251Pro) c.650G>C (p.Arg217Pro) n.611G>C c.593G>C (p.Arg198Pro) c.656G>C (p.Arg219Pro) c.644G>C (p.Arg215Pro) | |
2 | g.144404058C>T | CA348714874 | ZEB2 | c.*514G>A (n.*514G>A) c.-113G>A (n.-113G>A) c.665G>A (p.Arg222His) n.634G>A c.329G>A (p.Arg110His) c.*382G>A (n.*382G>A) n.765G>A c.-133-5208G>A (n.-133-5208G>A) c.662G>A (p.Arg221His) c.749G>A (p.Arg250His) c.404G>A (p.Arg135His) c.752G>A (p.Arg251His) c.650G>A (p.Arg217His) n.611G>A c.593G>A (p.Arg198His) c.656G>A (p.Arg219His) c.644G>A (p.Arg215His) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.144404059G>A | CA297587 | ZEB2 | c.*513C>T (n.*513C>T) c.-114C>T (n.-114C>T) c.664C>T (p.Arg222Cys) n.633C>T c.328C>T (p.Arg110Cys) c.*381C>T (n.*381C>T) n.764C>T c.-133-5209C>T (n.-133-5209C>T) c.661C>T (p.Arg221Cys) c.748C>T (p.Arg250Cys) c.403C>T (p.Arg135Cys) c.751C>T (p.Arg251Cys) c.649C>T (p.Arg217Cys) n.610C>T c.592C>T (p.Arg198Cys) c.655C>T (p.Arg219Cys) c.643C>T (p.Arg215Cys) | ClinVar dbSNP gnomAD v2 COSMIC |
2 | g.144404059G>C | CA348714876 | ZEB2 | c.*513C>G (n.*513C>G) c.-114C>G (n.-114C>G) c.664C>G (p.Arg222Gly) n.633C>G c.328C>G (p.Arg110Gly) c.*381C>G (n.*381C>G) n.764C>G c.-133-5209C>G (n.-133-5209C>G) c.661C>G (p.Arg221Gly) c.748C>G (p.Arg250Gly) c.403C>G (p.Arg135Gly) c.751C>G (p.Arg251Gly) c.649C>G (p.Arg217Gly) n.610C>G c.592C>G (p.Arg198Gly) c.655C>G (p.Arg219Gly) c.643C>G (p.Arg215Gly) | |
2 | g.144404059G= | CA1294887215 | ZEB2 | c.*513C= (n.*513C=) c.-114C= (n.-114C=) c.664C= (p.Arg222=) n.633C= c.328C= (p.Arg110=) c.*381C= (n.*381C=) n.764C= c.-133-5209C= (n.-133-5209C=) c.661C= (p.Arg221=) c.748C= (p.Arg250=) c.403C= (p.Arg135=) c.751C= (p.Arg251=) c.649C= (p.Arg217=) n.610C= c.592C= (p.Arg198=) c.655C= (p.Arg219=) c.643C= (p.Arg215=) | |
2 | g.144404059G>T | CA348714877 | ZEB2 | c.*513C>A (n.*513C>A) c.-114C>A (n.-114C>A) c.664C>A (p.Arg222Ser) n.633C>A c.328C>A (p.Arg110Ser) c.*381C>A (n.*381C>A) n.764C>A c.-133-5209C>A (n.-133-5209C>A) c.661C>A (p.Arg221Ser) c.748C>A (p.Arg250Ser) c.403C>A (p.Arg135Ser) c.751C>A (p.Arg251Ser) c.649C>A (p.Arg217Ser) n.610C>A c.592C>A (p.Arg198Ser) c.655C>A (p.Arg219Ser) c.643C>A (p.Arg215Ser) | |
2 | g.144404060C>A | CA348714878 | ZEB2 | c.*512G>T (n.*512G>T) c.-115G>T (n.-115G>T) c.663G>T (p.Lys221Asn) n.632G>T c.327G>T (p.Lys109Asn) c.*380G>T (n.*380G>T) n.763G>T c.-133-5210G>T (n.-133-5210G>T) c.660G>T (p.Lys220Asn) c.747G>T (p.Lys249Asn) c.402G>T (p.Lys134Asn) c.750G>T (p.Lys250Asn) c.648G>T (p.Lys216Asn) n.609G>T c.591G>T (p.Lys197Asn) c.654G>T (p.Lys218Asn) c.642G>T (p.Lys214Asn) | |
2 | g.144404060C>G | CA348714879 | ZEB2 | c.*512G>C (n.*512G>C) c.-115G>C (n.-115G>C) c.663G>C (p.Lys221Asn) n.632G>C c.327G>C (p.Lys109Asn) c.*380G>C (n.*380G>C) n.763G>C c.-133-5210G>C (n.-133-5210G>C) c.660G>C (p.Lys220Asn) c.747G>C (p.Lys249Asn) c.402G>C (p.Lys134Asn) c.750G>C (p.Lys250Asn) c.648G>C (p.Lys216Asn) n.609G>C c.591G>C (p.Lys197Asn) c.654G>C (p.Lys218Asn) c.642G>C (p.Lys214Asn) | |
2 | g.144404060C>T | CA429218596 | ZEB2 | c.*512G>A (n.*512G>A) c.-115G>A (n.-115G>A) c.663G>A (p.Lys221=) n.632G>A c.327G>A (p.Lys109=) c.*380G>A (n.*380G>A) n.763G>A c.-133-5210G>A (n.-133-5210G>A) c.660G>A (p.Lys220=) c.747G>A (p.Lys249=) c.402G>A (p.Lys134=) c.750G>A (p.Lys250=) c.648G>A (p.Lys216=) n.609G>A c.591G>A (p.Lys197=) c.654G>A (p.Lys218=) c.642G>A (p.Lys214=) | |
2 | g.144404061T>A | CA348714880 | ZEB2 | c.*511A>T (n.*511A>T) c.-116A>T (n.-116A>T) c.662A>T (p.Lys221Met) n.631A>T c.326A>T (p.Lys109Met) c.*379A>T (n.*379A>T) n.762A>T c.-133-5211A>T (n.-133-5211A>T) c.659A>T (p.Lys220Met) c.746A>T (p.Lys249Met) c.401A>T (p.Lys134Met) c.749A>T (p.Lys250Met) c.647A>T (p.Lys216Met) n.608A>T c.590A>T (p.Lys197Met) c.653A>T (p.Lys218Met) c.641A>T (p.Lys214Met) | |
2 | g.144404061T>C | CA57561893 | ZEB2 | c.*511A>G (n.*511A>G) c.-116A>G (n.-116A>G) c.662A>G (p.Lys221Arg) n.631A>G c.326A>G (p.Lys109Arg) c.*379A>G (n.*379A>G) n.762A>G c.-133-5211A>G (n.-133-5211A>G) c.659A>G (p.Lys220Arg) c.746A>G (p.Lys249Arg) c.401A>G (p.Lys134Arg) c.749A>G (p.Lys250Arg) c.647A>G (p.Lys216Arg) n.608A>G c.590A>G (p.Lys197Arg) c.653A>G (p.Lys218Arg) c.641A>G (p.Lys214Arg) | dbSNP gnomAD v4 |
2 | g.144404061T>G | CA348714881 | ZEB2 | c.*511A>C (n.*511A>C) c.-116A>C (n.-116A>C) c.662A>C (p.Lys221Thr) n.631A>C c.326A>C (p.Lys109Thr) c.*379A>C (n.*379A>C) n.762A>C c.-133-5211A>C (n.-133-5211A>C) c.659A>C (p.Lys220Thr) c.746A>C (p.Lys249Thr) c.401A>C (p.Lys134Thr) c.749A>C (p.Lys250Thr) c.647A>C (p.Lys216Thr) n.608A>C c.590A>C (p.Lys197Thr) c.653A>C (p.Lys218Thr) c.641A>C (p.Lys214Thr) | |
2 | g.144404061T= | CA1294887216 | ZEB2 | c.*511A= (n.*511A=) c.-116A= (n.-116A=) c.662A= (p.Lys221=) n.631A= c.326A= (p.Lys109=) c.*379A= (n.*379A=) n.762A= c.-133-5211A= (n.-133-5211A=) c.659A= (p.Lys220=) c.746A= (p.Lys249=) c.401A= (p.Lys134=) c.749A= (p.Lys250=) c.647A= (p.Lys216=) n.608A= c.590A= (p.Lys197=) c.653A= (p.Lys218=) c.641A= (p.Lys214=) | |
2 | g.144404062T>A | CA348714882 | ZEB2 | c.*510A>T (n.*510A>T) c.-117A>T (n.-117A>T) c.661A>T (p.Lys221Ter) n.630A>T c.325A>T (p.Lys109Ter) c.*378A>T (n.*378A>T) n.761A>T c.-133-5212A>T (n.-133-5212A>T) c.658A>T (p.Lys220Ter) c.745A>T (p.Lys249Ter) c.400A>T (p.Lys134Ter) c.748A>T (p.Lys250Ter) c.646A>T (p.Lys216Ter) n.607A>T c.589A>T (p.Lys197Ter) c.652A>T (p.Lys218Ter) c.640A>T (p.Lys214Ter) | |
2 | g.144404062T>C | CA348714883 | ZEB2 | c.*510A>G (n.*510A>G) c.-117A>G (n.-117A>G) c.661A>G (p.Lys221Glu) n.630A>G c.325A>G (p.Lys109Glu) c.*378A>G (n.*378A>G) n.761A>G c.-133-5212A>G (n.-133-5212A>G) c.658A>G (p.Lys220Glu) c.745A>G (p.Lys249Glu) c.400A>G (p.Lys134Glu) c.748A>G (p.Lys250Glu) c.646A>G (p.Lys216Glu) n.607A>G c.589A>G (p.Lys197Glu) c.652A>G (p.Lys218Glu) c.640A>G (p.Lys214Glu) | |
2 | g.144404062T>G | CA348714884 | ZEB2 | c.*510A>C (n.*510A>C) c.-117A>C (n.-117A>C) c.661A>C (p.Lys221Gln) n.630A>C c.325A>C (p.Lys109Gln) c.*378A>C (n.*378A>C) n.761A>C c.-133-5212A>C (n.-133-5212A>C) c.658A>C (p.Lys220Gln) c.745A>C (p.Lys249Gln) c.400A>C (p.Lys134Gln) c.748A>C (p.Lys250Gln) c.646A>C (p.Lys216Gln) n.607A>C c.589A>C (p.Lys197Gln) c.652A>C (p.Lys218Gln) c.640A>C (p.Lys214Gln) | |
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) | ClinVar |
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) | |
2 | g.144404076del | CA2586965041 | ZEB2 | c.*496del (n.*496del) c.-131del (n.-131del) c.647del (p.Cys216SerfsTer8) n.616del c.311del (p.Cys104SerfsTer8) c.*364del (n.*364del) n.747del c.-133-5226del (n.-133-5226del) c.644del (p.Cys215SerfsTer8) c.731del (p.Cys244SerfsTer8) c.386del (p.Cys129SerfsTer8) c.734del (p.Cys245SerfsTer8) c.632del (p.Cys211SerfsTer8) n.593del c.575del (p.Cys192SerfsTer8) c.638del (p.Cys213SerfsTer8) c.626del (p.Cys209SerfsTer8) | |
2 | g.144404076C>A | CA348714910 | ZEB2 | c.*496G>T (n.*496G>T) c.-131G>T (n.-131G>T) c.647G>T (p.Cys216Phe) n.616G>T c.311G>T (p.Cys104Phe) c.*364G>T (n.*364G>T) n.747G>T c.-133-5226G>T (n.-133-5226G>T) c.644G>T (p.Cys215Phe) c.731G>T (p.Cys244Phe) c.386G>T (p.Cys129Phe) c.734G>T (p.Cys245Phe) c.632G>T (p.Cys211Phe) n.593G>T c.575G>T (p.Cys192Phe) c.638G>T (p.Cys213Phe) c.626G>T (p.Cys209Phe) | |
2 | g.144404076C>G | CA348714912 | ZEB2 | c.*496G>C (n.*496G>C) c.-131G>C (n.-131G>C) c.647G>C (p.Cys216Ser) n.616G>C c.311G>C (p.Cys104Ser) c.*364G>C (n.*364G>C) n.747G>C c.-133-5226G>C (n.-133-5226G>C) c.644G>C (p.Cys215Ser) c.731G>C (p.Cys244Ser) c.386G>C (p.Cys129Ser) c.734G>C (p.Cys245Ser) c.632G>C (p.Cys211Ser) n.593G>C c.575G>C (p.Cys192Ser) c.638G>C (p.Cys213Ser) c.626G>C (p.Cys209Ser) | |
2 | g.144404076C>T | CA348714911 | ZEB2 | c.*496G>A (n.*496G>A) c.-131G>A (n.-131G>A) c.647G>A (p.Cys216Tyr) n.616G>A c.311G>A (p.Cys104Tyr) c.*364G>A (n.*364G>A) n.747G>A c.-133-5226G>A (n.-133-5226G>A) c.644G>A (p.Cys215Tyr) c.731G>A (p.Cys244Tyr) c.386G>A (p.Cys129Tyr) c.734G>A (p.Cys245Tyr) c.632G>A (p.Cys211Tyr) n.593G>A c.575G>A (p.Cys192Tyr) c.638G>A (p.Cys213Tyr) c.626G>A (p.Cys209Tyr) | |
2 | g.144404077A>C | CA348714913 | ZEB2 | c.*495T>G (n.*495T>G) c.-132T>G (n.-132T>G) c.646T>G (p.Cys216Gly) n.615T>G c.310T>G (p.Cys104Gly) c.*363T>G (n.*363T>G) n.746T>G c.-133-5227T>G (n.-133-5227T>G) c.643T>G (p.Cys215Gly) c.730T>G (p.Cys244Gly) c.385T>G (p.Cys129Gly) c.733T>G (p.Cys245Gly) c.631T>G (p.Cys211Gly) n.592T>G c.574T>G (p.Cys192Gly) c.637T>G (p.Cys213Gly) c.625T>G (p.Cys209Gly) | |
2 | g.144404077A>G | CA348714915 | ZEB2 | c.*495T>C (n.*495T>C) c.-132T>C (n.-132T>C) c.646T>C (p.Cys216Arg) n.615T>C c.310T>C (p.Cys104Arg) c.*363T>C (n.*363T>C) n.746T>C c.-133-5227T>C (n.-133-5227T>C) c.643T>C (p.Cys215Arg) c.730T>C (p.Cys244Arg) c.385T>C (p.Cys129Arg) c.733T>C (p.Cys245Arg) c.631T>C (p.Cys211Arg) n.592T>C c.574T>C (p.Cys192Arg) c.637T>C (p.Cys213Arg) c.625T>C (p.Cys209Arg) | |
2 | g.144404077A>T | CA348714914 | ZEB2 | c.*495T>A (n.*495T>A) c.-132T>A (n.-132T>A) c.646T>A (p.Cys216Ser) n.615T>A c.310T>A (p.Cys104Ser) c.*363T>A (n.*363T>A) n.746T>A c.-133-5227T>A (n.-133-5227T>A) c.643T>A (p.Cys215Ser) c.730T>A (p.Cys244Ser) c.385T>A (p.Cys129Ser) c.733T>A (p.Cys245Ser) c.631T>A (p.Cys211Ser) n.592T>A c.574T>A (p.Cys192Ser) c.637T>A (p.Cys213Ser) c.625T>A (p.Cys209Ser) | |
2 | g.144404077dup | CA2586965042 | ZEB2 | c.*495dup (n.*495dup) c.-132dup (n.-132dup) c.646dup (p.Cys216LeufsTer23) n.615dup c.310dup (p.Cys104LeufsTer23) c.*363dup (n.*363dup) n.746dup c.-133-5227dup (n.-133-5227dup) c.643dup (p.Cys215LeufsTer23) c.730dup (p.Cys244LeufsTer23) c.385dup (p.Cys129LeufsTer23) c.733dup (p.Cys245LeufsTer23) c.631dup (p.Cys211LeufsTer23) n.592dup c.574dup (p.Cys192LeufsTer23) c.637dup (p.Cys213LeufsTer23) c.625dup (p.Cys209LeufsTer23) | |
2 | g.144404078G>A | CA429218619 | ZEB2 | c.*494C>T (n.*494C>T) c.-133C>T (n.-133C>T) c.645C>T (p.Tyr215=) n.614C>T c.309C>T (p.Tyr103=) c.*362C>T (n.*362C>T) n.745C>T c.-133-5228C>T (n.-133-5228C>T) c.642C>T (p.Tyr214=) c.729C>T (p.Tyr243=) c.384C>T (p.Tyr128=) c.732C>T (p.Tyr244=) c.630C>T (p.Tyr210=) n.591C>T c.573C>T (p.Tyr191=) c.636C>T (p.Tyr212=) c.624C>T (p.Tyr208=) | |
2 | g.144404078G>C | CA348714916 | ZEB2 | c.*494C>G (n.*494C>G) c.-133C>G (n.-133C>G) c.645C>G (p.Tyr215Ter) n.614C>G c.309C>G (p.Tyr103Ter) c.*362C>G (n.*362C>G) n.745C>G c.-133-5228C>G (n.-133-5228C>G) c.642C>G (p.Tyr214Ter) c.729C>G (p.Tyr243Ter) c.384C>G (p.Tyr128Ter) c.732C>G (p.Tyr244Ter) c.630C>G (p.Tyr210Ter) n.591C>G c.573C>G (p.Tyr191Ter) c.636C>G (p.Tyr212Ter) c.624C>G (p.Tyr208Ter) | |
2 | g.144404078G>T | CA348714917 | ZEB2 | c.*494C>A (n.*494C>A) c.-133C>A (n.-133C>A) c.645C>A (p.Tyr215Ter) n.614C>A c.309C>A (p.Tyr103Ter) c.*362C>A (n.*362C>A) n.745C>A c.-133-5228C>A (n.-133-5228C>A) c.642C>A (p.Tyr214Ter) c.729C>A (p.Tyr243Ter) c.384C>A (p.Tyr128Ter) c.732C>A (p.Tyr244Ter) c.630C>A (p.Tyr210Ter) n.591C>A c.573C>A (p.Tyr191Ter) c.636C>A (p.Tyr212Ter) c.624C>A (p.Tyr208Ter) | |
2 | g.144404079T>A | CA348714918 | ZEB2 | c.*493A>T (n.*493A>T) c.-134A>T (n.-134A>T) c.644A>T (p.Tyr215Phe) n.613A>T c.308A>T (p.Tyr103Phe) c.*361A>T (n.*361A>T) n.744A>T c.-133-5229A>T (n.-133-5229A>T) c.641A>T (p.Tyr214Phe) c.728A>T (p.Tyr243Phe) c.383A>T (p.Tyr128Phe) c.731A>T (p.Tyr244Phe) c.629A>T (p.Tyr210Phe) n.590A>T c.572A>T (p.Tyr191Phe) c.635A>T (p.Tyr212Phe) c.623A>T (p.Tyr208Phe) | |
2 | g.144404079T>C | CA348714919 | ZEB2 | c.*493A>G (n.*493A>G) c.-134A>G (n.-134A>G) c.644A>G (p.Tyr215Cys) n.613A>G c.308A>G (p.Tyr103Cys) c.*361A>G (n.*361A>G) n.744A>G c.-133-5229A>G (n.-133-5229A>G) c.641A>G (p.Tyr214Cys) c.728A>G (p.Tyr243Cys) c.383A>G (p.Tyr128Cys) c.731A>G (p.Tyr244Cys) c.629A>G (p.Tyr210Cys) n.590A>G c.572A>G (p.Tyr191Cys) c.635A>G (p.Tyr212Cys) c.623A>G (p.Tyr208Cys) | |
2 | g.144404079T>G | CA348714920 | ZEB2 | c.*493A>C (n.*493A>C) c.-134A>C (n.-134A>C) c.644A>C (p.Tyr215Ser) n.613A>C c.308A>C (p.Tyr103Ser) c.*361A>C (n.*361A>C) n.744A>C c.-133-5229A>C (n.-133-5229A>C) c.641A>C (p.Tyr214Ser) c.728A>C (p.Tyr243Ser) c.383A>C (p.Tyr128Ser) c.731A>C (p.Tyr244Ser) c.629A>C (p.Tyr210Ser) n.590A>C c.572A>C (p.Tyr191Ser) c.635A>C (p.Tyr212Ser) c.623A>C (p.Tyr208Ser) | |
2 | g.144404080A>C | CA348714921 | ZEB2 | c.*492T>G (n.*492T>G) c.-135T>G (n.-135T>G) c.643T>G (p.Tyr215Asp) n.612T>G c.307T>G (p.Tyr103Asp) c.*360T>G (n.*360T>G) n.743T>G c.-133-5230T>G (n.-133-5230T>G) c.640T>G (p.Tyr214Asp) c.727T>G (p.Tyr243Asp) c.382T>G (p.Tyr128Asp) c.730T>G (p.Tyr244Asp) c.628T>G (p.Tyr210Asp) n.589T>G c.571T>G (p.Tyr191Asp) c.634T>G (p.Tyr212Asp) c.622T>G (p.Tyr208Asp) | |
2 | g.144404080A>G | CA348714922 | ZEB2 | c.*492T>C (n.*492T>C) c.-135T>C (n.-135T>C) c.643T>C (p.Tyr215His) n.612T>C c.307T>C (p.Tyr103His) c.*360T>C (n.*360T>C) n.743T>C c.-133-5230T>C (n.-133-5230T>C) c.640T>C (p.Tyr214His) c.727T>C (p.Tyr243His) c.382T>C (p.Tyr128His) c.730T>C (p.Tyr244His) c.628T>C (p.Tyr210His) n.589T>C c.571T>C (p.Tyr191His) c.634T>C (p.Tyr212His) c.622T>C (p.Tyr208His) | gnomAD v4 |
2 | g.144404080A>T | CA348714923 | ZEB2 | c.*492T>A (n.*492T>A) c.-135T>A (n.-135T>A) c.643T>A (p.Tyr215Asn) n.612T>A c.307T>A (p.Tyr103Asn) c.*360T>A (n.*360T>A) n.743T>A c.-133-5230T>A (n.-133-5230T>A) c.640T>A (p.Tyr214Asn) c.727T>A (p.Tyr243Asn) c.382T>A (p.Tyr128Asn) c.730T>A (p.Tyr244Asn) c.628T>A (p.Tyr210Asn) n.589T>A c.571T>A (p.Tyr191Asn) c.634T>A (p.Tyr212Asn) c.622T>A (p.Tyr208Asn) | |
2 | g.144404081G>A | CA429218621 | ZEB2 | c.*491C>T (n.*491C>T) c.-136C>T (n.-136C>T) c.642C>T (p.Pro214=) n.611C>T c.306C>T (p.Pro102=) c.*359C>T (n.*359C>T) n.742C>T c.-133-5231C>T (n.-133-5231C>T) c.639C>T (p.Pro213=) c.726C>T (p.Pro242=) c.381C>T (p.Pro127=) c.729C>T (p.Pro243=) c.627C>T (p.Pro209=) n.588C>T c.570C>T (p.Pro190=) c.633C>T (p.Pro211=) c.621C>T (p.Pro207=) | |
2 | g.144404081G>C | CA429218625 | ZEB2 | c.*491C>G (n.*491C>G) c.-136C>G (n.-136C>G) c.642C>G (p.Pro214=) n.611C>G c.306C>G (p.Pro102=) c.*359C>G (n.*359C>G) n.742C>G c.-133-5231C>G (n.-133-5231C>G) c.639C>G (p.Pro213=) c.726C>G (p.Pro242=) c.381C>G (p.Pro127=) c.729C>G (p.Pro243=) c.627C>G (p.Pro209=) n.588C>G c.570C>G (p.Pro190=) c.633C>G (p.Pro211=) c.621C>G (p.Pro207=) | |
2 | g.144404081G>T | CA429218623 | ZEB2 | c.*491C>A (n.*491C>A) c.-136C>A (n.-136C>A) c.642C>A (p.Pro214=) n.611C>A c.306C>A (p.Pro102=) c.*359C>A (n.*359C>A) n.742C>A c.-133-5231C>A (n.-133-5231C>A) c.639C>A (p.Pro213=) c.726C>A (p.Pro242=) c.381C>A (p.Pro127=) c.729C>A (p.Pro243=) c.627C>A (p.Pro209=) n.588C>A c.570C>A (p.Pro190=) c.633C>A (p.Pro211=) c.621C>A (p.Pro207=) | |
2 | g.144404082G>A | CA348714924 | ZEB2 | c.*490C>T (n.*490C>T) c.-137C>T (n.-137C>T) c.641C>T (p.Pro214Leu) n.610C>T c.305C>T (p.Pro102Leu) c.*358C>T (n.*358C>T) n.741C>T c.-133-5232C>T (n.-133-5232C>T) c.638C>T (p.Pro213Leu) c.725C>T (p.Pro242Leu) c.380C>T (p.Pro127Leu) c.728C>T (p.Pro243Leu) c.626C>T (p.Pro209Leu) n.587C>T c.569C>T (p.Pro190Leu) c.632C>T (p.Pro211Leu) c.620C>T (p.Pro207Leu) | |
2 | g.144404082G>C | CA348714925 | ZEB2 | c.*490C>G (n.*490C>G) c.-137C>G (n.-137C>G) c.641C>G (p.Pro214Arg) n.610C>G c.305C>G (p.Pro102Arg) c.*358C>G (n.*358C>G) n.741C>G c.-133-5232C>G (n.-133-5232C>G) c.638C>G (p.Pro213Arg) c.725C>G (p.Pro242Arg) c.380C>G (p.Pro127Arg) c.728C>G (p.Pro243Arg) c.626C>G (p.Pro209Arg) n.587C>G c.569C>G (p.Pro190Arg) c.632C>G (p.Pro211Arg) c.620C>G (p.Pro207Arg) | |
2 | g.144404082G>T | CA348714926 | ZEB2 | c.*490C>A (n.*490C>A) c.-137C>A (n.-137C>A) c.641C>A (p.Pro214His) n.610C>A c.305C>A (p.Pro102His) c.*358C>A (n.*358C>A) n.741C>A c.-133-5232C>A (n.-133-5232C>A) c.638C>A (p.Pro213His) c.725C>A (p.Pro242His) c.380C>A (p.Pro127His) c.728C>A (p.Pro243His) c.626C>A (p.Pro209His) n.587C>A c.569C>A (p.Pro190His) c.632C>A (p.Pro211His) c.620C>A (p.Pro207His) | |
2 | g.144404083G>A | CA348714927 | ZEB2 | c.*489C>T (n.*489C>T) c.-138C>T (n.-138C>T) c.640C>T (p.Pro214Ser) n.609C>T c.304C>T (p.Pro102Ser) c.*357C>T (n.*357C>T) n.740C>T c.-133-5233C>T (n.-133-5233C>T) c.637C>T (p.Pro213Ser) c.724C>T (p.Pro242Ser) c.379C>T (p.Pro127Ser) c.727C>T (p.Pro243Ser) c.625C>T (p.Pro209Ser) n.586C>T c.568C>T (p.Pro190Ser) c.631C>T (p.Pro211Ser) c.619C>T (p.Pro207Ser) | gnomAD v4 |
2 | g.144404083G>C | CA348714928 | ZEB2 | c.*489C>G (n.*489C>G) c.-138C>G (n.-138C>G) c.640C>G (p.Pro214Ala) n.609C>G c.304C>G (p.Pro102Ala) c.*357C>G (n.*357C>G) n.740C>G c.-133-5233C>G (n.-133-5233C>G) c.637C>G (p.Pro213Ala) c.724C>G (p.Pro242Ala) c.379C>G (p.Pro127Ala) c.727C>G (p.Pro243Ala) c.625C>G (p.Pro209Ala) n.586C>G c.568C>G (p.Pro190Ala) c.631C>G (p.Pro211Ala) c.619C>G (p.Pro207Ala) | |
2 | g.144404083G>T | CA348714929 | ZEB2 | c.*489C>A (n.*489C>A) c.-138C>A (n.-138C>A) c.640C>A (p.Pro214Thr) n.609C>A c.304C>A (p.Pro102Thr) c.*357C>A (n.*357C>A) n.740C>A c.-133-5233C>A (n.-133-5233C>A) c.637C>A (p.Pro213Thr) c.724C>A (p.Pro242Thr) c.379C>A (p.Pro127Thr) c.727C>A (p.Pro243Thr) c.625C>A (p.Pro209Thr) n.586C>A c.568C>A (p.Pro190Thr) c.631C>A (p.Pro211Thr) c.619C>A (p.Pro207Thr) | |
2 | g.144404085_144404088dup | CA2580063952 | ZEB2 | c.*486_*489dup (n.*486_*489dup) c.-141_-138dup (n.-141_-138dup) c.637_640dup (p.Pro214LeufsTer26) n.606_609dup c.301_304dup (p.Pro102LeufsTer26) c.*354_*357dup (n.*354_*357dup) n.737_740dup c.-133-5236_-133-5233dup (n.-133-5236_-133-5233dup) c.634_637dup (p.Pro213LeufsTer26) c.721_724dup (p.Pro242LeufsTer26) c.376_379dup (p.Pro127LeufsTer26) c.724_727dup (p.Pro243LeufsTer26) c.622_625dup (p.Pro209LeufsTer26) n.583_586dup c.565_568dup (p.Pro190LeufsTer26) c.628_631dup (p.Pro211LeufsTer26) c.616_619dup (p.Pro207LeufsTer26) | ClinVar |
2 | g.144404084G>A | CA429218627 | ZEB2 | c.*488C>T (n.*488C>T) c.-139C>T (n.-139C>T) c.639C>T (p.Cys213=) n.608C>T c.303C>T (p.Cys101=) c.*356C>T (n.*356C>T) n.739C>T c.-133-5234C>T (n.-133-5234C>T) c.636C>T (p.Cys212=) c.723C>T (p.Cys241=) c.378C>T (p.Cys126=) c.726C>T (p.Cys242=) c.624C>T (p.Cys208=) n.585C>T c.567C>T (p.Cys189=) c.630C>T (p.Cys210=) c.618C>T (p.Cys206=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.144404084G>C | CA348714930 | ZEB2 | c.*488C>G (n.*488C>G) c.-139C>G (n.-139C>G) c.639C>G (p.Cys213Trp) n.608C>G c.303C>G (p.Cys101Trp) c.*356C>G (n.*356C>G) n.739C>G c.-133-5234C>G (n.-133-5234C>G) c.636C>G (p.Cys212Trp) c.723C>G (p.Cys241Trp) c.378C>G (p.Cys126Trp) c.726C>G (p.Cys242Trp) c.624C>G (p.Cys208Trp) n.585C>G c.567C>G (p.Cys189Trp) c.630C>G (p.Cys210Trp) c.618C>G (p.Cys206Trp) | |
2 | g.144404084G= | CA1294887224 | ZEB2 | c.*488C= (n.*488C=) c.-139C= (n.-139C=) c.639C= (p.Cys213=) n.608C= c.303C= (p.Cys101=) c.*356C= (n.*356C=) n.739C= c.-133-5234C= (n.-133-5234C=) c.636C= (p.Cys212=) c.723C= (p.Cys241=) c.378C= (p.Cys126=) c.726C= (p.Cys242=) c.624C= (p.Cys208=) n.585C= c.567C= (p.Cys189=) c.630C= (p.Cys210=) c.618C= (p.Cys206=) | |
2 | g.144404084G>T | CA348714931 | ZEB2 | c.*488C>A (n.*488C>A) c.-139C>A (n.-139C>A) c.639C>A (p.Cys213Ter) n.608C>A c.303C>A (p.Cys101Ter) c.*356C>A (n.*356C>A) n.739C>A c.-133-5234C>A (n.-133-5234C>A) c.636C>A (p.Cys212Ter) c.723C>A (p.Cys241Ter) c.378C>A (p.Cys126Ter) c.726C>A (p.Cys242Ter) c.624C>A (p.Cys208Ter) n.585C>A c.567C>A (p.Cys189Ter) c.630C>A (p.Cys210Ter) c.618C>A (p.Cys206Ter) | ClinVar dbSNP |
2 | g.144404085C>A | CA348714934 | ZEB2 | c.*487G>T (n.*487G>T) c.-140G>T (n.-140G>T) c.638G>T (p.Cys213Phe) n.607G>T c.302G>T (p.Cys101Phe) c.*355G>T (n.*355G>T) n.738G>T c.-133-5235G>T (n.-133-5235G>T) c.635G>T (p.Cys212Phe) c.722G>T (p.Cys241Phe) c.377G>T (p.Cys126Phe) c.725G>T (p.Cys242Phe) c.623G>T (p.Cys208Phe) n.584G>T c.566G>T (p.Cys189Phe) c.629G>T (p.Cys210Phe) c.617G>T (p.Cys206Phe) | |
2 | g.144404085C>G | CA348714933 | ZEB2 | c.*487G>C (n.*487G>C) c.-140G>C (n.-140G>C) c.638G>C (p.Cys213Ser) n.607G>C c.302G>C (p.Cys101Ser) c.*355G>C (n.*355G>C) n.738G>C c.-133-5235G>C (n.-133-5235G>C) c.635G>C (p.Cys212Ser) c.722G>C (p.Cys241Ser) c.377G>C (p.Cys126Ser) c.725G>C (p.Cys242Ser) c.623G>C (p.Cys208Ser) n.584G>C c.566G>C (p.Cys189Ser) c.629G>C (p.Cys210Ser) c.617G>C (p.Cys206Ser) | |
2 | g.144404085C>T | CA348714932 | ZEB2 | c.*487G>A (n.*487G>A) c.-140G>A (n.-140G>A) c.638G>A (p.Cys213Tyr) n.607G>A c.302G>A (p.Cys101Tyr) c.*355G>A (n.*355G>A) n.738G>A c.-133-5235G>A (n.-133-5235G>A) c.635G>A (p.Cys212Tyr) c.722G>A (p.Cys241Tyr) c.377G>A (p.Cys126Tyr) c.725G>A (p.Cys242Tyr) c.623G>A (p.Cys208Tyr) n.584G>A c.566G>A (p.Cys189Tyr) c.629G>A (p.Cys210Tyr) c.617G>A (p.Cys206Tyr) | |
2 | g.144404086A>C | CA348714935 | ZEB2 | c.*486T>G (n.*486T>G) c.-141T>G (n.-141T>G) c.637T>G (p.Cys213Gly) n.606T>G c.301T>G (p.Cys101Gly) c.*354T>G (n.*354T>G) n.737T>G c.-133-5236T>G (n.-133-5236T>G) c.634T>G (p.Cys212Gly) c.721T>G (p.Cys241Gly) c.376T>G (p.Cys126Gly) c.724T>G (p.Cys242Gly) c.622T>G (p.Cys208Gly) n.583T>G c.565T>G (p.Cys189Gly) c.628T>G (p.Cys210Gly) c.616T>G (p.Cys206Gly) | |
2 | g.144404086A>G | CA348714936 | ZEB2 | c.*486T>C (n.*486T>C) c.-141T>C (n.-141T>C) c.637T>C (p.Cys213Arg) n.606T>C c.301T>C (p.Cys101Arg) c.*354T>C (n.*354T>C) n.737T>C c.-133-5236T>C (n.-133-5236T>C) c.634T>C (p.Cys212Arg) c.721T>C (p.Cys241Arg) c.376T>C (p.Cys126Arg) c.724T>C (p.Cys242Arg) c.622T>C (p.Cys208Arg) n.583T>C c.565T>C (p.Cys189Arg) c.628T>C (p.Cys210Arg) c.616T>C (p.Cys206Arg) | |
2 | g.144404086A>T | CA348714937 | ZEB2 | c.*486T>A (n.*486T>A) c.-141T>A (n.-141T>A) c.637T>A (p.Cys213Ser) n.606T>A c.301T>A (p.Cys101Ser) c.*354T>A (n.*354T>A) n.737T>A c.-133-5236T>A (n.-133-5236T>A) c.634T>A (p.Cys212Ser) c.721T>A (p.Cys241Ser) c.376T>A (p.Cys126Ser) c.724T>A (p.Cys242Ser) c.622T>A (p.Cys208Ser) n.583T>A c.565T>A (p.Cys189Ser) c.628T>A (p.Cys210Ser) c.616T>A (p.Cys206Ser) | |
2 | g.144404087G>A | CA429218629 | ZEB2 | c.*485C>T (n.*485C>T) c.-142C>T (n.-142C>T) c.636C>T (p.Thr212=) n.605C>T c.300C>T (p.Thr100=) c.*353C>T (n.*353C>T) n.736C>T c.-133-5237C>T (n.-133-5237C>T) c.633C>T (p.Thr211=) c.720C>T (p.Thr240=) c.375C>T (p.Thr125=) c.723C>T (p.Thr241=) c.621C>T (p.Thr207=) n.582C>T c.564C>T (p.Thr188=) c.627C>T (p.Thr209=) c.615C>T (p.Thr205=) | ClinVar gnomAD v4 |
2 | g.144404087G>C | CA429218630 | ZEB2 | c.*485C>G (n.*485C>G) c.-142C>G (n.-142C>G) c.636C>G (p.Thr212=) n.605C>G c.300C>G (p.Thr100=) c.*353C>G (n.*353C>G) n.736C>G c.-133-5237C>G (n.-133-5237C>G) c.633C>G (p.Thr211=) c.720C>G (p.Thr240=) c.375C>G (p.Thr125=) c.723C>G (p.Thr241=) c.621C>G (p.Thr207=) n.582C>G c.564C>G (p.Thr188=) c.627C>G (p.Thr209=) c.615C>G (p.Thr205=) | |
2 | g.144404087G>T | CA429218631 | ZEB2 | c.*485C>A (n.*485C>A) c.-142C>A (n.-142C>A) c.636C>A (p.Thr212=) n.605C>A c.300C>A (p.Thr100=) c.*353C>A (n.*353C>A) n.736C>A c.-133-5237C>A (n.-133-5237C>A) c.633C>A (p.Thr211=) c.720C>A (p.Thr240=) c.375C>A (p.Thr125=) c.723C>A (p.Thr241=) c.621C>A (p.Thr207=) n.582C>A c.564C>A (p.Thr188=) c.627C>A (p.Thr209=) c.615C>A (p.Thr205=) | gnomAD v4 |
2 | g.144404088G>A | CA348714938 | ZEB2 | c.*484C>T (n.*484C>T) c.-143C>T (n.-143C>T) c.635C>T (p.Thr212Ile) n.604C>T c.299C>T (p.Thr100Ile) c.*352C>T (n.*352C>T) n.735C>T c.-133-5238C>T (n.-133-5238C>T) c.632C>T (p.Thr211Ile) c.719C>T (p.Thr240Ile) c.374C>T (p.Thr125Ile) c.722C>T (p.Thr241Ile) c.620C>T (p.Thr207Ile) n.581C>T c.563C>T (p.Thr188Ile) c.626C>T (p.Thr209Ile) c.614C>T (p.Thr205Ile) | COSMIC |
2 | g.144404088G>C | CA348714939 | ZEB2 | c.*484C>G (n.*484C>G) c.-143C>G (n.-143C>G) c.635C>G (p.Thr212Ser) n.604C>G c.299C>G (p.Thr100Ser) c.*352C>G (n.*352C>G) n.735C>G c.-133-5238C>G (n.-133-5238C>G) c.632C>G (p.Thr211Ser) c.719C>G (p.Thr240Ser) c.374C>G (p.Thr125Ser) c.722C>G (p.Thr241Ser) c.620C>G (p.Thr207Ser) n.581C>G c.563C>G (p.Thr188Ser) c.626C>G (p.Thr209Ser) c.614C>G (p.Thr205Ser) | |
2 | g.144404088G>T | CA348714940 | ZEB2 | c.*484C>A (n.*484C>A) c.-143C>A (n.-143C>A) c.635C>A (p.Thr212Asn) n.604C>A c.299C>A (p.Thr100Asn) c.*352C>A (n.*352C>A) n.735C>A c.-133-5238C>A (n.-133-5238C>A) c.632C>A (p.Thr211Asn) c.719C>A (p.Thr240Asn) c.374C>A (p.Thr125Asn) c.722C>A (p.Thr241Asn) c.620C>A (p.Thr207Asn) n.581C>A c.563C>A (p.Thr188Asn) c.626C>A (p.Thr209Asn) c.614C>A (p.Thr205Asn) | gnomAD v4 |