Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.144404063_144404080delinsGTAGCCCCGGTCGCAGTACA1294887218ZEB2c.*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=)
2g.144404064_144404080delCA267214ZEB2c.*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
2g.144404065A>CCA348714888ZEB2c.*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)
2g.144404065A>GCA348714889ZEB2c.*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)
2g.144404065A>TCA348714890ZEB2c.*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)
2g.144404066G>ACA429218603ZEB2c.*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=)
2g.144404066G>CCA429218604ZEB2c.*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=)
2g.144404066G>TCA429218605ZEB2c.*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
2g.144404066_144404067delinsGCCA1294887220ZEB2c.*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=)
2g.144404067C>ACA348714891ZEB2c.*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)
2g.144404067C>GCA348714892ZEB2c.*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)
2g.144404067C>TCA348714893ZEB2c.*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)
2g.144404070delCA915942802ZEB2c.*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
2g.144404068C>ACA348714894ZEB2c.*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)
2g.144404068C>GCA348714895ZEB2c.*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)
2g.144404068C>TCA348714896ZEB2c.*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)
2g.144404069C>ACA429218609ZEB2c.*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=)
2g.144404069C>GCA429218610ZEB2c.*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
2g.144404069C>TCA429218608ZEB2c.*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=)
2g.144404070C>ACA348714897ZEB2c.*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)
2g.144404070C>GCA348714898ZEB2c.*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)
2g.144404070C>TCA348714899ZEB2c.*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
2g.144404072_144404075dupCA2586965039ZEB2c.*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
2g.144404071G>ACA348714900ZEB2c.*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
2g.144404071G>CCA348714901ZEB2c.*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)
2g.144404071G>TCA429218614ZEB2c.*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=)
2g.144404072delCA2586965040ZEB2c.*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)
2g.144404072G>ACA57561920ZEB2c.*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
2g.144404072G>CCA348714902ZEB2c.*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)
2g.144404072G=CA1294887221ZEB2c.*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=)
2g.144404072G>TCA348714903ZEB2c.*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)
2g.144404073T>ACA348714904ZEB2c.*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)
2g.144404073T>CCA348714905ZEB2c.*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)
2g.144404073T>GCA348714906ZEB2c.*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)
2g.144404074C>ACA57561924ZEB2c.*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
2g.144404074C=CA1294887222ZEB2c.*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=)
2g.144404074C>GCA348714907ZEB2c.*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)
2g.144404074C>TCA1898430ZEB2c.*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
2g.144404075G>ACA429218618ZEB2c.*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
2g.144404075G>CCA348714908ZEB2c.*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)
2g.144404075G=CA1294887223ZEB2c.*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=)
2g.144404075G>TCA348714909ZEB2c.*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)
2g.144404076delCA2586965041ZEB2c.*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)
2g.144404076C>ACA348714910ZEB2c.*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)
2g.144404076C>GCA348714912ZEB2c.*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)
2g.144404076C>TCA348714911ZEB2c.*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)
2g.144404077A>CCA348714913ZEB2c.*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)
2g.144404077A>GCA348714915ZEB2c.*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)
2g.144404077A>TCA348714914ZEB2c.*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)
2g.144404077dupCA2586965042ZEB2c.*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)

Number of alleles fetched