| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.144403961_144403963delinsGGT | CA1294887176 | ZEB2 | c.*609_*611delinsACC (n.*609_*611delinsACC) c.-18_-16delinsACC (n.-18_-16delinsACC) c.760_762delinsACC (p.Thr254=) n.729_731delinsACC c.424_426delinsACC (p.Thr142=) c.*477_*479delinsACC (n.*477_*479delinsACC) n.860_862delinsACC c.-133-5113_-133-5111delinsACC (n.-133-5113_-133-5111delinsACC) c.757_759delinsACC (p.Thr253=) c.844_846delinsACC (p.Thr282=) c.499_501delinsACC (p.Thr167=) c.847_849delinsACC (p.Thr283=) c.745_747delinsACC (p.Thr249=) c.688_690delinsACC (p.Thr230=) c.751_753delinsACC (p.Thr251=) c.739_741delinsACC (p.Thr247=) | |
| 2 | g.144403963_144403964dup | CA253279 | ZEB2 | c.*609_*610dup (n.*609_*610dup) c.-18_-17dup (n.-18_-17dup) c.760_761dup (p.Gln255ProfsTer8) n.729_730dup c.424_425dup (p.Gln143ProfsTer8) c.*477_*478dup (n.*477_*478dup) n.860_861dup c.-133-5113_-133-5112dup (n.-133-5113_-133-5112dup) c.757_758dup (p.Gln254ProfsTer8) c.844_845dup (p.Gln283ProfsTer8) c.499_500dup (p.Gln168ProfsTer8) c.847_848dup (p.Gln284ProfsTer8) c.745_746dup (p.Gln250ProfsTer8) c.688_689dup (p.Gln231ProfsTer8) c.751_752dup (p.Gln252ProfsTer8) c.739_740dup (p.Gln248ProfsTer8) | ClinVar dbSNP |
| 2 | g.144403963_144403964del | CA658657064 | ZEB2 | c.*609_*610del (n.*609_*610del) c.-18_-17del (n.-18_-17del) c.760_761del (p.Thr254ProfsTer25) n.729_730del c.424_425del (p.Thr142ProfsTer25) c.*477_*478del (n.*477_*478del) n.860_861del c.-133-5113_-133-5112del (n.-133-5113_-133-5112del) c.757_758del (p.Thr253ProfsTer25) c.844_845del (p.Thr282ProfsTer25) c.499_500del (p.Thr167ProfsTer25) c.847_848del (p.Thr283ProfsTer25) c.745_746del (p.Thr249ProfsTer25) c.688_689del (p.Thr230ProfsTer25) c.751_752del (p.Thr251ProfsTer25) c.739_740del (p.Thr247ProfsTer25) | ClinVar dbSNP |
| 2 | g.144403963T>A | CA348714652 | ZEB2 | c.*609A>T (n.*609A>T) c.-18A>T (n.-18A>T) c.760A>T (p.Thr254Ser) n.729A>T c.424A>T (p.Thr142Ser) c.*477A>T (n.*477A>T) n.860A>T c.-133-5113A>T (n.-133-5113A>T) c.757A>T (p.Thr253Ser) c.844A>T (p.Thr282Ser) c.499A>T (p.Thr167Ser) c.847A>T (p.Thr283Ser) c.745A>T (p.Thr249Ser) c.688A>T (p.Thr230Ser) c.751A>T (p.Thr251Ser) c.739A>T (p.Thr247Ser) | |
| 2 | g.144403963T>C | CA348714653 | ZEB2 | c.*609A>G (n.*609A>G) c.-18A>G (n.-18A>G) c.760A>G (p.Thr254Ala) n.729A>G c.424A>G (p.Thr142Ala) c.*477A>G (n.*477A>G) n.860A>G c.-133-5113A>G (n.-133-5113A>G) c.757A>G (p.Thr253Ala) c.844A>G (p.Thr282Ala) c.499A>G (p.Thr167Ala) c.847A>G (p.Thr283Ala) c.745A>G (p.Thr249Ala) c.688A>G (p.Thr230Ala) c.751A>G (p.Thr251Ala) c.739A>G (p.Thr247Ala) | gnomAD v4 |
| 2 | g.144403963T>G | CA348714654 | ZEB2 | c.*609A>C (n.*609A>C) c.-18A>C (n.-18A>C) c.760A>C (p.Thr254Pro) n.729A>C c.424A>C (p.Thr142Pro) c.*477A>C (n.*477A>C) n.860A>C c.-133-5113A>C (n.-133-5113A>C) c.757A>C (p.Thr253Pro) c.844A>C (p.Thr282Pro) c.499A>C (p.Thr167Pro) c.847A>C (p.Thr283Pro) c.745A>C (p.Thr249Pro) c.688A>C (p.Thr230Pro) c.751A>C (p.Thr251Pro) c.739A>C (p.Thr247Pro) | dbSNP |
| 2 | g.144403963T= | CA1294887178 | ZEB2 | c.*609A= (n.*609A=) c.-18A= (n.-18A=) c.760A= (p.Thr254=) n.729A= c.424A= (p.Thr142=) c.*477A= (n.*477A=) n.860A= c.-133-5113A= (n.-133-5113A=) c.757A= (p.Thr253=) c.844A= (p.Thr282=) c.499A= (p.Thr167=) c.847A= (p.Thr283=) c.745A= (p.Thr249=) c.688A= (p.Thr230=) c.751A= (p.Thr251=) c.739A= (p.Thr247=) | |
| 2 | g.144403964G>A | CA291665 | ZEB2 | c.*608C>T (n.*608C>T) c.-19C>T (n.-19C>T) c.759C>T (p.Arg253=) n.728C>T c.423C>T (p.Arg141=) c.*476C>T (n.*476C>T) n.859C>T c.-133-5114C>T (n.-133-5114C>T) c.756C>T (p.Arg252=) c.843C>T (p.Arg281=) c.498C>T (p.Arg166=) c.846C>T (p.Arg282=) c.744C>T (p.Arg248=) c.687C>T (p.Arg229=) c.750C>T (p.Arg250=) c.738C>T (p.Arg246=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.144403964G>C | CA429218484 | ZEB2 | c.*608C>G (n.*608C>G) c.-19C>G (n.-19C>G) c.759C>G (p.Arg253=) n.728C>G c.423C>G (p.Arg141=) c.*476C>G (n.*476C>G) n.859C>G c.-133-5114C>G (n.-133-5114C>G) c.756C>G (p.Arg252=) c.843C>G (p.Arg281=) c.498C>G (p.Arg166=) c.846C>G (p.Arg282=) c.744C>G (p.Arg248=) c.687C>G (p.Arg229=) c.750C>G (p.Arg250=) c.738C>G (p.Arg246=) | |
| 2 | g.144403964G= | CA1294887179 | ZEB2 | c.*608C= (n.*608C=) c.-19C= (n.-19C=) c.759C= (p.Arg253=) n.728C= c.423C= (p.Arg141=) c.*476C= (n.*476C=) n.859C= c.-133-5114C= (n.-133-5114C=) c.756C= (p.Arg252=) c.843C= (p.Arg281=) c.498C= (p.Arg166=) c.846C= (p.Arg282=) c.744C= (p.Arg248=) c.687C= (p.Arg229=) c.750C= (p.Arg250=) c.738C= (p.Arg246=) | |
| 2 | g.144403964G>T | CA429218485 | ZEB2 | c.*608C>A (n.*608C>A) c.-19C>A (n.-19C>A) c.759C>A (p.Arg253=) n.728C>A c.423C>A (p.Arg141=) c.*476C>A (n.*476C>A) n.859C>A c.-133-5114C>A (n.-133-5114C>A) c.756C>A (p.Arg252=) c.843C>A (p.Arg281=) c.498C>A (p.Arg166=) c.846C>A (p.Arg282=) c.744C>A (p.Arg248=) c.687C>A (p.Arg229=) c.750C>A (p.Arg250=) c.738C>A (p.Arg246=) | |
| 2 | g.144403965C>A | CA348714655 | ZEB2 | c.*607G>T (n.*607G>T) c.-20G>T (n.-20G>T) c.758G>T (p.Arg253Leu) n.727G>T c.422G>T (p.Arg141Leu) c.*475G>T (n.*475G>T) n.858G>T c.-133-5115G>T (n.-133-5115G>T) c.755G>T (p.Arg252Leu) c.842G>T (p.Arg281Leu) c.497G>T (p.Arg166Leu) c.845G>T (p.Arg282Leu) c.743G>T (p.Arg248Leu) c.686G>T (p.Arg229Leu) c.749G>T (p.Arg250Leu) c.737G>T (p.Arg246Leu) | |
| 2 | g.144403965C>G | CA348714656 | ZEB2 | c.*607G>C (n.*607G>C) c.-20G>C (n.-20G>C) c.758G>C (p.Arg253Pro) n.727G>C c.422G>C (p.Arg141Pro) c.*475G>C (n.*475G>C) n.858G>C c.-133-5115G>C (n.-133-5115G>C) c.755G>C (p.Arg252Pro) c.842G>C (p.Arg281Pro) c.497G>C (p.Arg166Pro) c.845G>C (p.Arg282Pro) c.743G>C (p.Arg248Pro) c.686G>C (p.Arg229Pro) c.749G>C (p.Arg250Pro) c.737G>C (p.Arg246Pro) | |
| 2 | g.144403965C>T | CA348714657 | ZEB2 | c.*607G>A (n.*607G>A) c.-20G>A (n.-20G>A) c.758G>A (p.Arg253His) n.727G>A c.422G>A (p.Arg141His) c.*475G>A (n.*475G>A) n.858G>A c.-133-5115G>A (n.-133-5115G>A) c.755G>A (p.Arg252His) c.842G>A (p.Arg281His) c.497G>A (p.Arg166His) c.845G>A (p.Arg282His) c.743G>A (p.Arg248His) c.686G>A (p.Arg229His) c.749G>A (p.Arg250His) c.737G>A (p.Arg246His) | gnomAD v4 COSMIC |
| 2 | g.144403966G>A | CA1898422 | ZEB2 | c.*606C>T (n.*606C>T) c.-21C>T (n.-21C>T) c.757C>T (p.Arg253Cys) n.726C>T c.421C>T (p.Arg141Cys) c.*474C>T (n.*474C>T) n.857C>T c.-133-5116C>T (n.-133-5116C>T) c.754C>T (p.Arg252Cys) c.841C>T (p.Arg281Cys) c.496C>T (p.Arg166Cys) c.844C>T (p.Arg282Cys) c.742C>T (p.Arg248Cys) c.685C>T (p.Arg229Cys) c.748C>T (p.Arg250Cys) c.736C>T (p.Arg246Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.144403966G>C | CA348714658 | ZEB2 | c.*606C>G (n.*606C>G) c.-21C>G (n.-21C>G) c.757C>G (p.Arg253Gly) n.726C>G c.421C>G (p.Arg141Gly) c.*474C>G (n.*474C>G) n.857C>G c.-133-5116C>G (n.-133-5116C>G) c.754C>G (p.Arg252Gly) c.841C>G (p.Arg281Gly) c.496C>G (p.Arg166Gly) c.844C>G (p.Arg282Gly) c.742C>G (p.Arg248Gly) c.685C>G (p.Arg229Gly) c.748C>G (p.Arg250Gly) c.736C>G (p.Arg246Gly) | |
| 2 | g.144403966G= | CA1294887180 | ZEB2 | c.*606C= (n.*606C=) c.-21C= (n.-21C=) c.757C= (p.Arg253=) n.726C= c.421C= (p.Arg141=) c.*474C= (n.*474C=) n.857C= c.-133-5116C= (n.-133-5116C=) c.754C= (p.Arg252=) c.841C= (p.Arg281=) c.496C= (p.Arg166=) c.844C= (p.Arg282=) c.742C= (p.Arg248=) c.685C= (p.Arg229=) c.748C= (p.Arg250=) c.736C= (p.Arg246=) | |
| 2 | g.144403966G>T | CA348714659 | ZEB2 | c.*606C>A (n.*606C>A) c.-21C>A (n.-21C>A) c.757C>A (p.Arg253Ser) n.726C>A c.421C>A (p.Arg141Ser) c.*474C>A (n.*474C>A) n.857C>A c.-133-5116C>A (n.-133-5116C>A) c.754C>A (p.Arg252Ser) c.841C>A (p.Arg281Ser) c.496C>A (p.Arg166Ser) c.844C>A (p.Arg282Ser) c.742C>A (p.Arg248Ser) c.685C>A (p.Arg229Ser) c.748C>A (p.Arg250Ser) c.736C>A (p.Arg246Ser) | ClinVar dbSNP |
| 2 | g.144403967G>A | CA429218487 | ZEB2 | c.*605C>T (n.*605C>T) c.-22C>T (n.-22C>T) c.756C>T (p.Tyr252=) n.725C>T c.420C>T (p.Tyr140=) c.*473C>T (n.*473C>T) n.856C>T c.-133-5117C>T (n.-133-5117C>T) c.753C>T (p.Tyr251=) c.840C>T (p.Tyr280=) c.495C>T (p.Tyr165=) c.843C>T (p.Tyr281=) c.741C>T (p.Tyr247=) c.684C>T (p.Tyr228=) c.747C>T (p.Tyr249=) c.735C>T (p.Tyr245=) | ClinVar dbSNP gnomAD v4 |
| 2 | g.144403967G>C | CA348714660 | ZEB2 | c.*605C>G (n.*605C>G) c.-22C>G (n.-22C>G) c.756C>G (p.Tyr252Ter) n.725C>G c.420C>G (p.Tyr140Ter) c.*473C>G (n.*473C>G) n.856C>G c.-133-5117C>G (n.-133-5117C>G) c.753C>G (p.Tyr251Ter) c.840C>G (p.Tyr280Ter) c.495C>G (p.Tyr165Ter) c.843C>G (p.Tyr281Ter) c.741C>G (p.Tyr247Ter) c.684C>G (p.Tyr228Ter) c.747C>G (p.Tyr249Ter) c.735C>G (p.Tyr245Ter) | |
| 2 | g.144403967G= | CA1294887181 | ZEB2 | c.*605C= (n.*605C=) c.-22C= (n.-22C=) c.756C= (p.Tyr252=) n.725C= c.420C= (p.Tyr140=) c.*473C= (n.*473C=) n.856C= c.-133-5117C= (n.-133-5117C=) c.753C= (p.Tyr251=) c.840C= (p.Tyr280=) c.495C= (p.Tyr165=) c.843C= (p.Tyr281=) c.741C= (p.Tyr247=) c.684C= (p.Tyr228=) c.747C= (p.Tyr249=) c.735C= (p.Tyr245=) | |
| 2 | g.144403967G>T | CA348714661 | ZEB2 | c.*605C>A (n.*605C>A) c.-22C>A (n.-22C>A) c.756C>A (p.Tyr252Ter) n.725C>A c.420C>A (p.Tyr140Ter) c.*473C>A (n.*473C>A) n.856C>A c.-133-5117C>A (n.-133-5117C>A) c.753C>A (p.Tyr251Ter) c.840C>A (p.Tyr280Ter) c.495C>A (p.Tyr165Ter) c.843C>A (p.Tyr281Ter) c.741C>A (p.Tyr247Ter) c.684C>A (p.Tyr228Ter) c.747C>A (p.Tyr249Ter) c.735C>A (p.Tyr245Ter) | |
| 2 | g.144403968T>A | CA348714664 | ZEB2 | c.*604A>T (n.*604A>T) c.-23A>T (n.-23A>T) c.755A>T (p.Tyr252Phe) n.724A>T c.419A>T (p.Tyr140Phe) c.*472A>T (n.*472A>T) n.855A>T c.-133-5118A>T (n.-133-5118A>T) c.752A>T (p.Tyr251Phe) c.839A>T (p.Tyr280Phe) c.494A>T (p.Tyr165Phe) c.842A>T (p.Tyr281Phe) c.740A>T (p.Tyr247Phe) c.683A>T (p.Tyr228Phe) c.746A>T (p.Tyr249Phe) c.734A>T (p.Tyr245Phe) | |
| 2 | g.144403968T>C | CA348714662 | ZEB2 | c.*604A>G (n.*604A>G) c.-23A>G (n.-23A>G) c.755A>G (p.Tyr252Cys) n.724A>G c.419A>G (p.Tyr140Cys) c.*472A>G (n.*472A>G) n.855A>G c.-133-5118A>G (n.-133-5118A>G) c.752A>G (p.Tyr251Cys) c.839A>G (p.Tyr280Cys) c.494A>G (p.Tyr165Cys) c.842A>G (p.Tyr281Cys) c.740A>G (p.Tyr247Cys) c.683A>G (p.Tyr228Cys) c.746A>G (p.Tyr249Cys) c.734A>G (p.Tyr245Cys) | gnomAD v4 |
| 2 | g.144403968T>G | CA348714663 | ZEB2 | c.*604A>C (n.*604A>C) c.-23A>C (n.-23A>C) c.755A>C (p.Tyr252Ser) n.724A>C c.419A>C (p.Tyr140Ser) c.*472A>C (n.*472A>C) n.855A>C c.-133-5118A>C (n.-133-5118A>C) c.752A>C (p.Tyr251Ser) c.839A>C (p.Tyr280Ser) c.494A>C (p.Tyr165Ser) c.842A>C (p.Tyr281Ser) c.740A>C (p.Tyr247Ser) c.683A>C (p.Tyr228Ser) c.746A>C (p.Tyr249Ser) c.734A>C (p.Tyr245Ser) | |
| 2 | g.144403969A>C | CA348714665 | ZEB2 | c.*603T>G (n.*603T>G) c.-24T>G (n.-24T>G) c.754T>G (p.Tyr252Asp) n.723T>G c.418T>G (p.Tyr140Asp) c.*471T>G (n.*471T>G) n.854T>G c.-133-5119T>G (n.-133-5119T>G) c.751T>G (p.Tyr251Asp) c.838T>G (p.Tyr280Asp) c.493T>G (p.Tyr165Asp) c.841T>G (p.Tyr281Asp) c.739T>G (p.Tyr247Asp) c.682T>G (p.Tyr228Asp) c.745T>G (p.Tyr249Asp) c.733T>G (p.Tyr245Asp) | |
| 2 | g.144403969A>G | CA348714666 | ZEB2 | c.*603T>C (n.*603T>C) c.-24T>C (n.-24T>C) c.754T>C (p.Tyr252His) n.723T>C c.418T>C (p.Tyr140His) c.*471T>C (n.*471T>C) n.854T>C c.-133-5119T>C (n.-133-5119T>C) c.751T>C (p.Tyr251His) c.838T>C (p.Tyr280His) c.493T>C (p.Tyr165His) c.841T>C (p.Tyr281His) c.739T>C (p.Tyr247His) c.682T>C (p.Tyr228His) c.745T>C (p.Tyr249His) c.733T>C (p.Tyr245His) | COSMIC |
| 2 | g.144403969A>T | CA348714667 | ZEB2 | c.*603T>A (n.*603T>A) c.-24T>A (n.-24T>A) c.754T>A (p.Tyr252Asn) n.723T>A c.418T>A (p.Tyr140Asn) c.*471T>A (n.*471T>A) n.854T>A c.-133-5119T>A (n.-133-5119T>A) c.751T>A (p.Tyr251Asn) c.838T>A (p.Tyr280Asn) c.493T>A (p.Tyr165Asn) c.841T>A (p.Tyr281Asn) c.739T>A (p.Tyr247Asn) c.682T>A (p.Tyr228Asn) c.745T>A (p.Tyr249Asn) c.733T>A (p.Tyr245Asn) | |
| 2 | g.144403970G>A | CA429218489 | ZEB2 | c.*602C>T (n.*602C>T) c.-25C>T (n.-25C>T) c.753C>T (p.Ala251=) n.722C>T c.417C>T (p.Ala139=) c.*470C>T (n.*470C>T) n.853C>T c.-133-5120C>T (n.-133-5120C>T) c.750C>T (p.Ala250=) c.837C>T (p.Ala279=) c.492C>T (p.Ala164=) c.840C>T (p.Ala280=) c.738C>T (p.Ala246=) c.681C>T (p.Ala227=) c.744C>T (p.Ala248=) c.732C>T (p.Ala244=) | ClinVar |
| 2 | g.144403970G>C | CA429218492 | ZEB2 | c.*602C>G (n.*602C>G) c.-25C>G (n.-25C>G) c.753C>G (p.Ala251=) n.722C>G c.417C>G (p.Ala139=) c.*470C>G (n.*470C>G) n.853C>G c.-133-5120C>G (n.-133-5120C>G) c.750C>G (p.Ala250=) c.837C>G (p.Ala279=) c.492C>G (p.Ala164=) c.840C>G (p.Ala280=) c.738C>G (p.Ala246=) c.681C>G (p.Ala227=) c.744C>G (p.Ala248=) c.732C>G (p.Ala244=) | |
| 2 | g.144403970G>T | CA429218490 | ZEB2 | c.*602C>A (n.*602C>A) c.-25C>A (n.-25C>A) c.753C>A (p.Ala251=) n.722C>A c.417C>A (p.Ala139=) c.*470C>A (n.*470C>A) n.853C>A c.-133-5120C>A (n.-133-5120C>A) c.750C>A (p.Ala250=) c.837C>A (p.Ala279=) c.492C>A (p.Ala164=) c.840C>A (p.Ala280=) c.738C>A (p.Ala246=) c.681C>A (p.Ala227=) c.744C>A (p.Ala248=) c.732C>A (p.Ala244=) | |
| 2 | g.144403971G>A | CA348714668 | ZEB2 | c.*601C>T (n.*601C>T) c.-26C>T (n.-26C>T) c.752C>T (p.Ala251Val) n.721C>T c.416C>T (p.Ala139Val) c.*469C>T (n.*469C>T) n.852C>T c.-133-5121C>T (n.-133-5121C>T) c.749C>T (p.Ala250Val) c.836C>T (p.Ala279Val) c.491C>T (p.Ala164Val) c.839C>T (p.Ala280Val) c.737C>T (p.Ala246Val) c.680C>T (p.Ala227Val) c.743C>T (p.Ala248Val) c.731C>T (p.Ala244Val) | |
| 2 | g.144403971G>C | CA348714669 | ZEB2 | c.*601C>G (n.*601C>G) c.-26C>G (n.-26C>G) c.752C>G (p.Ala251Gly) n.721C>G c.416C>G (p.Ala139Gly) c.*469C>G (n.*469C>G) n.852C>G c.-133-5121C>G (n.-133-5121C>G) c.749C>G (p.Ala250Gly) c.836C>G (p.Ala279Gly) c.491C>G (p.Ala164Gly) c.839C>G (p.Ala280Gly) c.737C>G (p.Ala246Gly) c.680C>G (p.Ala227Gly) c.743C>G (p.Ala248Gly) c.731C>G (p.Ala244Gly) | |
| 2 | g.144403971G>T | CA348714670 | ZEB2 | c.*601C>A (n.*601C>A) c.-26C>A (n.-26C>A) c.752C>A (p.Ala251Asp) n.721C>A c.416C>A (p.Ala139Asp) c.*469C>A (n.*469C>A) n.852C>A c.-133-5121C>A (n.-133-5121C>A) c.749C>A (p.Ala250Asp) c.836C>A (p.Ala279Asp) c.491C>A (p.Ala164Asp) c.839C>A (p.Ala280Asp) c.737C>A (p.Ala246Asp) c.680C>A (p.Ala227Asp) c.743C>A (p.Ala248Asp) c.731C>A (p.Ala244Asp) | |
| 2 | g.144403972C>A | CA348714671 | ZEB2 | c.*600G>T (n.*600G>T) c.-27G>T (n.-27G>T) c.751G>T (p.Ala251Ser) n.720G>T c.415G>T (p.Ala139Ser) c.*468G>T (n.*468G>T) n.851G>T c.-133-5122G>T (n.-133-5122G>T) c.748G>T (p.Ala250Ser) c.835G>T (p.Ala279Ser) c.490G>T (p.Ala164Ser) c.838G>T (p.Ala280Ser) c.736G>T (p.Ala246Ser) c.679G>T (p.Ala227Ser) c.742G>T (p.Ala248Ser) c.730G>T (p.Ala244Ser) | |
| 2 | g.144403972C= | CA1294887182 | ZEB2 | c.*600G= (n.*600G=) c.-27G= (n.-27G=) c.751G= (p.Ala251=) n.720G= c.415G= (p.Ala139=) c.*468G= (n.*468G=) n.851G= c.-133-5122G= (n.-133-5122G=) c.748G= (p.Ala250=) c.835G= (p.Ala279=) c.490G= (p.Ala164=) c.838G= (p.Ala280=) c.736G= (p.Ala246=) c.679G= (p.Ala227=) c.742G= (p.Ala248=) c.730G= (p.Ala244=) | |
| 2 | g.144403972C>G | CA348714672 | ZEB2 | c.*600G>C (n.*600G>C) c.-27G>C (n.-27G>C) c.751G>C (p.Ala251Pro) n.720G>C c.415G>C (p.Ala139Pro) c.*468G>C (n.*468G>C) n.851G>C c.-133-5122G>C (n.-133-5122G>C) c.748G>C (p.Ala250Pro) c.835G>C (p.Ala279Pro) c.490G>C (p.Ala164Pro) c.838G>C (p.Ala280Pro) c.736G>C (p.Ala246Pro) c.679G>C (p.Ala227Pro) c.742G>C (p.Ala248Pro) c.730G>C (p.Ala244Pro) | |
| 2 | g.144403972C>T | CA348714673 | ZEB2 | c.*600G>A (n.*600G>A) c.-27G>A (n.-27G>A) c.751G>A (p.Ala251Thr) n.720G>A c.415G>A (p.Ala139Thr) c.*468G>A (n.*468G>A) n.851G>A c.-133-5122G>A (n.-133-5122G>A) c.748G>A (p.Ala250Thr) c.835G>A (p.Ala279Thr) c.490G>A (p.Ala164Thr) c.838G>A (p.Ala280Thr) c.736G>A (p.Ala246Thr) c.679G>A (p.Ala227Thr) c.742G>A (p.Ala248Thr) c.730G>A (p.Ala244Thr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.144403973A>C | CA348714674 | ZEB2 | c.*599T>G (n.*599T>G) c.-28T>G (n.-28T>G) c.750T>G (p.Phe250Leu) n.719T>G c.414T>G (p.Phe138Leu) c.*467T>G (n.*467T>G) n.850T>G c.-133-5123T>G (n.-133-5123T>G) c.747T>G (p.Phe249Leu) c.834T>G (p.Phe278Leu) c.489T>G (p.Phe163Leu) c.837T>G (p.Phe279Leu) c.735T>G (p.Phe245Leu) c.678T>G (p.Phe226Leu) c.741T>G (p.Phe247Leu) c.729T>G (p.Phe243Leu) | |
| 2 | g.144403973A>G | CA429218496 | ZEB2 | c.*599T>C (n.*599T>C) c.-28T>C (n.-28T>C) c.750T>C (p.Phe250=) n.719T>C c.414T>C (p.Phe138=) c.*467T>C (n.*467T>C) n.850T>C c.-133-5123T>C (n.-133-5123T>C) c.747T>C (p.Phe249=) c.834T>C (p.Phe278=) c.489T>C (p.Phe163=) c.837T>C (p.Phe279=) c.735T>C (p.Phe245=) c.678T>C (p.Phe226=) c.741T>C (p.Phe247=) c.729T>C (p.Phe243=) | COSMIC |
| 2 | g.144403973A>T | CA348714675 | ZEB2 | c.*599T>A (n.*599T>A) c.-28T>A (n.-28T>A) c.750T>A (p.Phe250Leu) n.719T>A c.414T>A (p.Phe138Leu) c.*467T>A (n.*467T>A) n.850T>A c.-133-5123T>A (n.-133-5123T>A) c.747T>A (p.Phe249Leu) c.834T>A (p.Phe278Leu) c.489T>A (p.Phe163Leu) c.837T>A (p.Phe279Leu) c.735T>A (p.Phe245Leu) c.678T>A (p.Phe226Leu) c.741T>A (p.Phe247Leu) c.729T>A (p.Phe243Leu) | |
| 2 | g.144403974A>C | CA348714676 | ZEB2 | c.*598T>G (n.*598T>G) c.-29T>G (n.-29T>G) c.749T>G (p.Phe250Cys) n.718T>G c.413T>G (p.Phe138Cys) c.*466T>G (n.*466T>G) n.849T>G c.-133-5124T>G (n.-133-5124T>G) c.746T>G (p.Phe249Cys) c.833T>G (p.Phe278Cys) c.488T>G (p.Phe163Cys) c.836T>G (p.Phe279Cys) c.734T>G (p.Phe245Cys) c.677T>G (p.Phe226Cys) c.740T>G (p.Phe247Cys) c.728T>G (p.Phe243Cys) | |
| 2 | g.144403974A>G | CA348714678 | ZEB2 | c.*598T>C (n.*598T>C) c.-29T>C (n.-29T>C) c.749T>C (p.Phe250Ser) n.718T>C c.413T>C (p.Phe138Ser) c.*466T>C (n.*466T>C) n.849T>C c.-133-5124T>C (n.-133-5124T>C) c.746T>C (p.Phe249Ser) c.833T>C (p.Phe278Ser) c.488T>C (p.Phe163Ser) c.836T>C (p.Phe279Ser) c.734T>C (p.Phe245Ser) c.677T>C (p.Phe226Ser) c.740T>C (p.Phe247Ser) c.728T>C (p.Phe243Ser) | |
| 2 | g.144403974A>T | CA348714677 | ZEB2 | c.*598T>A (n.*598T>A) c.-29T>A (n.-29T>A) c.749T>A (p.Phe250Tyr) n.718T>A c.413T>A (p.Phe138Tyr) c.*466T>A (n.*466T>A) n.849T>A c.-133-5124T>A (n.-133-5124T>A) c.746T>A (p.Phe249Tyr) c.833T>A (p.Phe278Tyr) c.488T>A (p.Phe163Tyr) c.836T>A (p.Phe279Tyr) c.734T>A (p.Phe245Tyr) c.677T>A (p.Phe226Tyr) c.740T>A (p.Phe247Tyr) c.728T>A (p.Phe243Tyr) | |
| 2 | g.144403975A>C | CA348714679 | ZEB2 | c.*597T>G (n.*597T>G) c.-30T>G (n.-30T>G) c.748T>G (p.Phe250Val) n.717T>G c.412T>G (p.Phe138Val) c.*465T>G (n.*465T>G) n.848T>G c.-133-5125T>G (n.-133-5125T>G) c.745T>G (p.Phe249Val) c.832T>G (p.Phe278Val) c.487T>G (p.Phe163Val) c.835T>G (p.Phe279Val) c.733T>G (p.Phe245Val) c.676T>G (p.Phe226Val) c.739T>G (p.Phe247Val) c.727T>G (p.Phe243Val) | |
| 2 | g.144403975A>G | CA348714681 | ZEB2 | c.*597T>C (n.*597T>C) c.-30T>C (n.-30T>C) c.748T>C (p.Phe250Leu) n.717T>C c.412T>C (p.Phe138Leu) c.*465T>C (n.*465T>C) n.848T>C c.-133-5125T>C (n.-133-5125T>C) c.745T>C (p.Phe249Leu) c.832T>C (p.Phe278Leu) c.487T>C (p.Phe163Leu) c.835T>C (p.Phe279Leu) c.733T>C (p.Phe245Leu) c.676T>C (p.Phe226Leu) c.739T>C (p.Phe247Leu) c.727T>C (p.Phe243Leu) | |
| 2 | g.144403975A>T | CA348714680 | ZEB2 | c.*597T>A (n.*597T>A) c.-30T>A (n.-30T>A) c.748T>A (p.Phe250Ile) n.717T>A c.412T>A (p.Phe138Ile) c.*465T>A (n.*465T>A) n.848T>A c.-133-5125T>A (n.-133-5125T>A) c.745T>A (p.Phe249Ile) c.832T>A (p.Phe278Ile) c.487T>A (p.Phe163Ile) c.835T>A (p.Phe279Ile) c.733T>A (p.Phe245Ile) c.676T>A (p.Phe226Ile) c.739T>A (p.Phe247Ile) c.727T>A (p.Phe243Ile) | |
| 2 | g.144403976C>A | CA1898423 | ZEB2 | c.*596G>T (n.*596G>T) c.-31G>T (n.-31G>T) c.747G>T (p.Thr249=) n.716G>T c.411G>T (p.Thr137=) c.*464G>T (n.*464G>T) n.847G>T c.-133-5126G>T (n.-133-5126G>T) c.744G>T (p.Thr248=) c.831G>T (p.Thr277=) c.486G>T (p.Thr162=) c.834G>T (p.Thr278=) c.732G>T (p.Thr244=) c.675G>T (p.Thr225=) c.738G>T (p.Thr246=) c.726G>T (p.Thr242=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.144403976C= | CA1294887183 | ZEB2 | c.*596G= (n.*596G=) c.-31G= (n.-31G=) c.747G= (p.Thr249=) n.716G= c.411G= (p.Thr137=) c.*464G= (n.*464G=) n.847G= c.-133-5126G= (n.-133-5126G=) c.744G= (p.Thr248=) c.831G= (p.Thr277=) c.486G= (p.Thr162=) c.834G= (p.Thr278=) c.732G= (p.Thr244=) c.675G= (p.Thr225=) c.738G= (p.Thr246=) c.726G= (p.Thr242=) | |
| 2 | g.144403976C>G | CA429218498 | ZEB2 | c.*596G>C (n.*596G>C) c.-31G>C (n.-31G>C) c.747G>C (p.Thr249=) n.716G>C c.411G>C (p.Thr137=) c.*464G>C (n.*464G>C) n.847G>C c.-133-5126G>C (n.-133-5126G>C) c.744G>C (p.Thr248=) c.831G>C (p.Thr277=) c.486G>C (p.Thr162=) c.834G>C (p.Thr278=) c.732G>C (p.Thr244=) c.675G>C (p.Thr225=) c.738G>C (p.Thr246=) c.726G>C (p.Thr242=) | dbSNP gnomAD v4 |