WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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 |
| 2 | g.144403976C>T | CA272832 | ZEB2 | c.*596G>A (n.*596G>A) c.-31G>A (n.-31G>A) c.747G>A (p.Thr249=) n.716G>A c.411G>A (p.Thr137=) c.*464G>A (n.*464G>A) n.847G>A c.-133-5126G>A (n.-133-5126G>A) c.744G>A (p.Thr248=) c.831G>A (p.Thr277=) c.486G>A (p.Thr162=) c.834G>A (p.Thr278=) c.732G>A (p.Thr244=) c.675G>A (p.Thr225=) c.738G>A (p.Thr246=) c.726G>A (p.Thr242=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.144403977G>A | CA348714682 | ZEB2 | c.*595C>T (n.*595C>T) c.-32C>T (n.-32C>T) c.746C>T (p.Thr249Met) n.715C>T c.410C>T (p.Thr137Met) c.*463C>T (n.*463C>T) n.846C>T c.-133-5127C>T (n.-133-5127C>T) c.743C>T (p.Thr248Met) c.830C>T (p.Thr277Met) c.485C>T (p.Thr162Met) c.833C>T (p.Thr278Met) c.731C>T (p.Thr244Met) c.674C>T (p.Thr225Met) c.737C>T (p.Thr246Met) c.725C>T (p.Thr242Met) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.144403977G>C | CA348714684 | ZEB2 | c.*595C>G (n.*595C>G) c.-32C>G (n.-32C>G) c.746C>G (p.Thr249Arg) n.715C>G c.410C>G (p.Thr137Arg) c.*463C>G (n.*463C>G) n.846C>G c.-133-5127C>G (n.-133-5127C>G) c.743C>G (p.Thr248Arg) c.830C>G (p.Thr277Arg) c.485C>G (p.Thr162Arg) c.833C>G (p.Thr278Arg) c.731C>G (p.Thr244Arg) c.674C>G (p.Thr225Arg) c.737C>G (p.Thr246Arg) c.725C>G (p.Thr242Arg) | |
| 2 | g.144403977G= | CA1294887184 | ZEB2 | c.*595C= (n.*595C=) c.-32C= (n.-32C=) c.746C= (p.Thr249=) n.715C= c.410C= (p.Thr137=) c.*463C= (n.*463C=) n.846C= c.-133-5127C= (n.-133-5127C=) c.743C= (p.Thr248=) c.830C= (p.Thr277=) c.485C= (p.Thr162=) c.833C= (p.Thr278=) c.731C= (p.Thr244=) c.674C= (p.Thr225=) c.737C= (p.Thr246=) c.725C= (p.Thr242=) | |
| 2 | g.144403977G>T | CA348714683 | ZEB2 | c.*595C>A (n.*595C>A) c.-32C>A (n.-32C>A) c.746C>A (p.Thr249Lys) n.715C>A c.410C>A (p.Thr137Lys) c.*463C>A (n.*463C>A) n.846C>A c.-133-5127C>A (n.-133-5127C>A) c.743C>A (p.Thr248Lys) c.830C>A (p.Thr277Lys) c.485C>A (p.Thr162Lys) c.833C>A (p.Thr278Lys) c.731C>A (p.Thr244Lys) c.674C>A (p.Thr225Lys) c.737C>A (p.Thr246Lys) c.725C>A (p.Thr242Lys) | |
| 2 | g.144403978T>A | CA348714685 | ZEB2 | c.*594A>T (n.*594A>T) c.-33A>T (n.-33A>T) c.745A>T (p.Thr249Ser) n.714A>T c.409A>T (p.Thr137Ser) c.*462A>T (n.*462A>T) n.845A>T c.-133-5128A>T (n.-133-5128A>T) c.742A>T (p.Thr248Ser) c.829A>T (p.Thr277Ser) c.484A>T (p.Thr162Ser) c.832A>T (p.Thr278Ser) c.730A>T (p.Thr244Ser) c.673A>T (p.Thr225Ser) c.736A>T (p.Thr246Ser) c.724A>T (p.Thr242Ser) | |
| 2 | g.144403978T>C | CA348714686 | ZEB2 | c.*594A>G (n.*594A>G) c.-33A>G (n.-33A>G) c.745A>G (p.Thr249Ala) n.714A>G c.409A>G (p.Thr137Ala) c.*462A>G (n.*462A>G) n.845A>G c.-133-5128A>G (n.-133-5128A>G) c.742A>G (p.Thr248Ala) c.829A>G (p.Thr277Ala) c.484A>G (p.Thr162Ala) c.832A>G (p.Thr278Ala) c.730A>G (p.Thr244Ala) c.673A>G (p.Thr225Ala) c.736A>G (p.Thr246Ala) c.724A>G (p.Thr242Ala) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.144403978T>G | CA348714687 | ZEB2 | c.*594A>C (n.*594A>C) c.-33A>C (n.-33A>C) c.745A>C (p.Thr249Pro) n.714A>C c.409A>C (p.Thr137Pro) c.*462A>C (n.*462A>C) n.845A>C c.-133-5128A>C (n.-133-5128A>C) c.742A>C (p.Thr248Pro) c.829A>C (p.Thr277Pro) c.484A>C (p.Thr162Pro) c.832A>C (p.Thr278Pro) c.730A>C (p.Thr244Pro) c.673A>C (p.Thr225Pro) c.736A>C (p.Thr246Pro) c.724A>C (p.Thr242Pro) | |
| 2 | g.144403978T= | CA1294887185 | ZEB2 | c.*594A= (n.*594A=) c.-33A= (n.-33A=) c.745A= (p.Thr249=) n.714A= c.409A= (p.Thr137=) c.*462A= (n.*462A=) n.845A= c.-133-5128A= (n.-133-5128A=) c.742A= (p.Thr248=) c.829A= (p.Thr277=) c.484A= (p.Thr162=) c.832A= (p.Thr278=) c.730A= (p.Thr244=) c.673A= (p.Thr225=) c.736A= (p.Thr246=) c.724A= (p.Thr242=) | |
| 2 | g.144403979G>A | CA429218503 | ZEB2 | c.*593C>T (n.*593C>T) c.-34C>T (n.-34C>T) c.744C>T (p.Tyr248=) n.713C>T c.408C>T (p.Tyr136=) c.*461C>T (n.*461C>T) n.844C>T c.-133-5129C>T (n.-133-5129C>T) c.741C>T (p.Tyr247=) c.828C>T (p.Tyr276=) c.483C>T (p.Tyr161=) c.831C>T (p.Tyr277=) c.729C>T (p.Tyr243=) c.672C>T (p.Tyr224=) c.735C>T (p.Tyr245=) c.723C>T (p.Tyr241=) | gnomAD v4 |
| 2 | g.144403979G>C | CA348714688 | ZEB2 | c.*593C>G (n.*593C>G) c.-34C>G (n.-34C>G) c.744C>G (p.Tyr248Ter) n.713C>G c.408C>G (p.Tyr136Ter) c.*461C>G (n.*461C>G) n.844C>G c.-133-5129C>G (n.-133-5129C>G) c.741C>G (p.Tyr247Ter) c.828C>G (p.Tyr276Ter) c.483C>G (p.Tyr161Ter) c.831C>G (p.Tyr277Ter) c.729C>G (p.Tyr243Ter) c.672C>G (p.Tyr224Ter) c.735C>G (p.Tyr245Ter) c.723C>G (p.Tyr241Ter) | |
| 2 | g.144403979G>T | CA348714689 | ZEB2 | c.*593C>A (n.*593C>A) c.-34C>A (n.-34C>A) c.744C>A (p.Tyr248Ter) n.713C>A c.408C>A (p.Tyr136Ter) c.*461C>A (n.*461C>A) n.844C>A c.-133-5129C>A (n.-133-5129C>A) c.741C>A (p.Tyr247Ter) c.828C>A (p.Tyr276Ter) c.483C>A (p.Tyr161Ter) c.831C>A (p.Tyr277Ter) c.729C>A (p.Tyr243Ter) c.672C>A (p.Tyr224Ter) c.735C>A (p.Tyr245Ter) c.723C>A (p.Tyr241Ter) | |
| 2 | g.144403979_144403980insA | CA429218504 | ZEB2 | c.*592_*593insT (n.*592_*593insT) c.-35_-34insT (n.-35_-34insT) c.743_744insT (p.Thr249HisfsTer?) n.712_713insT c.407_408insT (p.Thr137HisfsTer?) c.*460_*461insT (n.*460_*461insT) n.843_844insT c.-133-5130_-133-5129insT (n.-133-5130_-133-5129insT) c.740_741insT (p.Thr248HisfsTer?) c.827_828insT (p.Thr277HisfsTer?) c.482_483insT (p.Thr162HisfsTer?) c.830_831insT (p.Thr278HisfsTer?) c.728_729insT (p.Thr244HisfsTer?) c.671_672insT (p.Thr225HisfsTer?) c.734_735insT (p.Thr246HisfsTer?) c.722_723insT (p.Thr242HisfsTer?) | |
| 2 | g.144403980T>A | CA348714690 | ZEB2 | c.*592A>T (n.*592A>T) c.-35A>T (n.-35A>T) c.743A>T (p.Tyr248Phe) n.712A>T c.407A>T (p.Tyr136Phe) c.*460A>T (n.*460A>T) n.843A>T c.-133-5130A>T (n.-133-5130A>T) c.740A>T (p.Tyr247Phe) c.827A>T (p.Tyr276Phe) c.482A>T (p.Tyr161Phe) c.830A>T (p.Tyr277Phe) c.728A>T (p.Tyr243Phe) c.671A>T (p.Tyr224Phe) c.734A>T (p.Tyr245Phe) c.722A>T (p.Tyr241Phe) | |
| 2 | g.144403980T>C | CA348714691 | ZEB2 | c.*592A>G (n.*592A>G) c.-35A>G (n.-35A>G) c.743A>G (p.Tyr248Cys) n.712A>G c.407A>G (p.Tyr136Cys) c.*460A>G (n.*460A>G) n.843A>G c.-133-5130A>G (n.-133-5130A>G) c.740A>G (p.Tyr247Cys) c.827A>G (p.Tyr276Cys) c.482A>G (p.Tyr161Cys) c.830A>G (p.Tyr277Cys) c.728A>G (p.Tyr243Cys) c.671A>G (p.Tyr224Cys) c.734A>G (p.Tyr245Cys) c.722A>G (p.Tyr241Cys) | ClinVar gnomAD v4 |
| 2 | g.144403980T>G | CA348714692 | ZEB2 | c.*592A>C (n.*592A>C) c.-35A>C (n.-35A>C) c.743A>C (p.Tyr248Ser) n.712A>C c.407A>C (p.Tyr136Ser) c.*460A>C (n.*460A>C) n.843A>C c.-133-5130A>C (n.-133-5130A>C) c.740A>C (p.Tyr247Ser) c.827A>C (p.Tyr276Ser) c.482A>C (p.Tyr161Ser) c.830A>C (p.Tyr277Ser) c.728A>C (p.Tyr243Ser) c.671A>C (p.Tyr224Ser) c.734A>C (p.Tyr245Ser) c.722A>C (p.Tyr241Ser) | |
| 2 | g.144403981A>C | CA348714693 | ZEB2 | c.*591T>G (n.*591T>G) c.-36T>G (n.-36T>G) c.742T>G (p.Tyr248Asp) n.711T>G c.406T>G (p.Tyr136Asp) c.*459T>G (n.*459T>G) n.842T>G c.-133-5131T>G (n.-133-5131T>G) c.739T>G (p.Tyr247Asp) c.826T>G (p.Tyr276Asp) c.481T>G (p.Tyr161Asp) c.829T>G (p.Tyr277Asp) c.727T>G (p.Tyr243Asp) c.670T>G (p.Tyr224Asp) c.733T>G (p.Tyr245Asp) c.721T>G (p.Tyr241Asp) | |
| 2 | g.144403981A>G | CA348714694 | ZEB2 | c.*591T>C (n.*591T>C) c.-36T>C (n.-36T>C) c.742T>C (p.Tyr248His) n.711T>C c.406T>C (p.Tyr136His) c.*459T>C (n.*459T>C) n.842T>C c.-133-5131T>C (n.-133-5131T>C) c.739T>C (p.Tyr247His) c.826T>C (p.Tyr276His) c.481T>C (p.Tyr161His) c.829T>C (p.Tyr277His) c.727T>C (p.Tyr243His) c.670T>C (p.Tyr224His) c.733T>C (p.Tyr245His) c.721T>C (p.Tyr241His) | gnomAD v4 |
| 2 | g.144403981A>T | CA348714695 | ZEB2 | c.*591T>A (n.*591T>A) c.-36T>A (n.-36T>A) c.742T>A (p.Tyr248Asn) n.711T>A c.406T>A (p.Tyr136Asn) c.*459T>A (n.*459T>A) n.842T>A c.-133-5131T>A (n.-133-5131T>A) c.739T>A (p.Tyr247Asn) c.826T>A (p.Tyr276Asn) c.481T>A (p.Tyr161Asn) c.829T>A (p.Tyr277Asn) c.727T>A (p.Tyr243Asn) c.670T>A (p.Tyr224Asn) c.733T>A (p.Tyr245Asn) c.721T>A (p.Tyr241Asn) | |
| 2 | g.144403982G>A | CA429218507 | ZEB2 | c.*590C>T (n.*590C>T) c.-37C>T (n.-37C>T) c.741C>T (p.Ser247=) n.710C>T c.405C>T (p.Ser135=) c.*458C>T (n.*458C>T) n.841C>T c.-133-5132C>T (n.-133-5132C>T) c.738C>T (p.Ser246=) c.825C>T (p.Ser275=) c.480C>T (p.Ser160=) c.828C>T (p.Ser276=) c.726C>T (p.Ser242=) c.669C>T (p.Ser223=) c.732C>T (p.Ser244=) c.720C>T (p.Ser240=) | ClinVar dbSNP |
| 2 | g.144403982G>C | CA348714697 | ZEB2 | c.*590C>G (n.*590C>G) c.-37C>G (n.-37C>G) c.741C>G (p.Ser247Arg) n.710C>G c.405C>G (p.Ser135Arg) c.*458C>G (n.*458C>G) n.841C>G c.-133-5132C>G (n.-133-5132C>G) c.738C>G (p.Ser246Arg) c.825C>G (p.Ser275Arg) c.480C>G (p.Ser160Arg) c.828C>G (p.Ser276Arg) c.726C>G (p.Ser242Arg) c.669C>G (p.Ser223Arg) c.732C>G (p.Ser244Arg) c.720C>G (p.Ser240Arg) | |
| 2 | g.144403982G= | CA1294887186 | ZEB2 | c.*590C= (n.*590C=) c.-37C= (n.-37C=) c.741C= (p.Ser247=) n.710C= c.405C= (p.Ser135=) c.*458C= (n.*458C=) n.841C= c.-133-5132C= (n.-133-5132C=) c.738C= (p.Ser246=) c.825C= (p.Ser275=) c.480C= (p.Ser160=) c.828C= (p.Ser276=) c.726C= (p.Ser242=) c.669C= (p.Ser223=) c.732C= (p.Ser244=) c.720C= (p.Ser240=) | |
| 2 | g.144403982G>T | CA348714696 | ZEB2 | c.*590C>A (n.*590C>A) c.-37C>A (n.-37C>A) c.741C>A (p.Ser247Arg) n.710C>A c.405C>A (p.Ser135Arg) c.*458C>A (n.*458C>A) n.841C>A c.-133-5132C>A (n.-133-5132C>A) c.738C>A (p.Ser246Arg) c.825C>A (p.Ser275Arg) c.480C>A (p.Ser160Arg) c.828C>A (p.Ser276Arg) c.726C>A (p.Ser242Arg) c.669C>A (p.Ser223Arg) c.732C>A (p.Ser244Arg) c.720C>A (p.Ser240Arg) | |
| 2 | g.144403983C>A | CA348714698 | ZEB2 | c.*589G>T (n.*589G>T) c.-38G>T (n.-38G>T) c.740G>T (p.Ser247Ile) n.709G>T c.404G>T (p.Ser135Ile) c.*457G>T (n.*457G>T) n.840G>T c.-133-5133G>T (n.-133-5133G>T) c.737G>T (p.Ser246Ile) c.824G>T (p.Ser275Ile) c.479G>T (p.Ser160Ile) c.827G>T (p.Ser276Ile) c.725G>T (p.Ser242Ile) c.668G>T (p.Ser223Ile) c.731G>T (p.Ser244Ile) c.719G>T (p.Ser240Ile) | |
| 2 | g.144403983C= | CA1294887187 | ZEB2 | c.*589G= (n.*589G=) c.-38G= (n.-38G=) c.740G= (p.Ser247=) n.709G= c.404G= (p.Ser135=) c.*457G= (n.*457G=) n.840G= c.-133-5133G= (n.-133-5133G=) c.737G= (p.Ser246=) c.824G= (p.Ser275=) c.479G= (p.Ser160=) c.827G= (p.Ser276=) c.725G= (p.Ser242=) c.668G= (p.Ser223=) c.731G= (p.Ser244=) c.719G= (p.Ser240=) | |
| 2 | g.144403983C>G | CA348714699 | ZEB2 | c.*589G>C (n.*589G>C) c.-38G>C (n.-38G>C) c.740G>C (p.Ser247Thr) n.709G>C c.404G>C (p.Ser135Thr) c.*457G>C (n.*457G>C) n.840G>C c.-133-5133G>C (n.-133-5133G>C) c.737G>C (p.Ser246Thr) c.824G>C (p.Ser275Thr) c.479G>C (p.Ser160Thr) c.827G>C (p.Ser276Thr) c.725G>C (p.Ser242Thr) c.668G>C (p.Ser223Thr) c.731G>C (p.Ser244Thr) c.719G>C (p.Ser240Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.144403983C>T | CA348714700 | ZEB2 | c.*589G>A (n.*589G>A) c.-38G>A (n.-38G>A) c.740G>A (p.Ser247Asn) n.709G>A c.404G>A (p.Ser135Asn) c.*457G>A (n.*457G>A) n.840G>A c.-133-5133G>A (n.-133-5133G>A) c.737G>A (p.Ser246Asn) c.824G>A (p.Ser275Asn) c.479G>A (p.Ser160Asn) c.827G>A (p.Ser276Asn) c.725G>A (p.Ser242Asn) c.668G>A (p.Ser223Asn) c.731G>A (p.Ser244Asn) c.719G>A (p.Ser240Asn) | |
| 2 | g.144403984T>A | CA348714701 | ZEB2 | c.*588A>T (n.*588A>T) c.-39A>T (n.-39A>T) c.739A>T (p.Ser247Cys) n.708A>T c.403A>T (p.Ser135Cys) c.*456A>T (n.*456A>T) n.839A>T c.-133-5134A>T (n.-133-5134A>T) c.736A>T (p.Ser246Cys) c.823A>T (p.Ser275Cys) c.478A>T (p.Ser160Cys) c.826A>T (p.Ser276Cys) c.724A>T (p.Ser242Cys) c.667A>T (p.Ser223Cys) c.730A>T (p.Ser244Cys) c.718A>T (p.Ser240Cys) | |
| 2 | g.144403984T>C | CA348714702 | ZEB2 | c.*588A>G (n.*588A>G) c.-39A>G (n.-39A>G) c.739A>G (p.Ser247Gly) n.708A>G c.403A>G (p.Ser135Gly) c.*456A>G (n.*456A>G) n.839A>G c.-133-5134A>G (n.-133-5134A>G) c.736A>G (p.Ser246Gly) c.823A>G (p.Ser275Gly) c.478A>G (p.Ser160Gly) c.826A>G (p.Ser276Gly) c.724A>G (p.Ser242Gly) c.667A>G (p.Ser223Gly) c.730A>G (p.Ser244Gly) c.718A>G (p.Ser240Gly) | dbSNP gnomAD v2 |
| 2 | g.144403984T>G | CA348714703 | ZEB2 | c.*588A>C (n.*588A>C) c.-39A>C (n.-39A>C) c.739A>C (p.Ser247Arg) n.708A>C c.403A>C (p.Ser135Arg) c.*456A>C (n.*456A>C) n.839A>C c.-133-5134A>C (n.-133-5134A>C) c.736A>C (p.Ser246Arg) c.823A>C (p.Ser275Arg) c.478A>C (p.Ser160Arg) c.826A>C (p.Ser276Arg) c.724A>C (p.Ser242Arg) c.667A>C (p.Ser223Arg) c.730A>C (p.Ser244Arg) c.718A>C (p.Ser240Arg) | |
| 2 | g.144403984T= | CA1294887188 | ZEB2 | c.*588A= (n.*588A=) c.-39A= (n.-39A=) c.739A= (p.Ser247=) n.708A= c.403A= (p.Ser135=) c.*456A= (n.*456A=) n.839A= c.-133-5134A= (n.-133-5134A=) c.736A= (p.Ser246=) c.823A= (p.Ser275=) c.478A= (p.Ser160=) c.826A= (p.Ser276=) c.724A= (p.Ser242=) c.667A= (p.Ser223=) c.730A= (p.Ser244=) c.718A= (p.Ser240=) | |
| 2 | g.144403985A>C | CA348714704 | ZEB2 | c.*587T>G (n.*587T>G) c.-40T>G (n.-40T>G) c.738T>G (p.Cys246Trp) n.707T>G c.402T>G (p.Cys134Trp) c.*455T>G (n.*455T>G) n.838T>G c.-133-5135T>G (n.-133-5135T>G) c.735T>G (p.Cys245Trp) c.822T>G (p.Cys274Trp) c.477T>G (p.Cys159Trp) c.825T>G (p.Cys275Trp) c.723T>G (p.Cys241Trp) c.666T>G (p.Cys222Trp) c.729T>G (p.Cys243Trp) c.717T>G (p.Cys239Trp) | |
| 2 | g.144403985A>G | CA429218510 | ZEB2 | c.*587T>C (n.*587T>C) c.-40T>C (n.-40T>C) c.738T>C (p.Cys246=) n.707T>C c.402T>C (p.Cys134=) c.*455T>C (n.*455T>C) n.838T>C c.-133-5135T>C (n.-133-5135T>C) c.735T>C (p.Cys245=) c.822T>C (p.Cys274=) c.477T>C (p.Cys159=) c.825T>C (p.Cys275=) c.723T>C (p.Cys241=) c.666T>C (p.Cys222=) c.729T>C (p.Cys243=) c.717T>C (p.Cys239=) | |
| 2 | g.144403985A>T | CA348714705 | ZEB2 | c.*587T>A (n.*587T>A) c.-40T>A (n.-40T>A) c.738T>A (p.Cys246Ter) n.707T>A c.402T>A (p.Cys134Ter) c.*455T>A (n.*455T>A) n.838T>A c.-133-5135T>A (n.-133-5135T>A) c.735T>A (p.Cys245Ter) c.822T>A (p.Cys274Ter) c.477T>A (p.Cys159Ter) c.825T>A (p.Cys275Ter) c.723T>A (p.Cys241Ter) c.666T>A (p.Cys222Ter) c.729T>A (p.Cys243Ter) c.717T>A (p.Cys239Ter) | |
| 2 | g.144403986C>A | CA348714706 | ZEB2 | c.*586G>T (n.*586G>T) c.-41G>T (n.-41G>T) c.737G>T (p.Cys246Phe) n.706G>T c.401G>T (p.Cys134Phe) c.*454G>T (n.*454G>T) n.837G>T c.-133-5136G>T (n.-133-5136G>T) c.734G>T (p.Cys245Phe) c.821G>T (p.Cys274Phe) c.476G>T (p.Cys159Phe) c.824G>T (p.Cys275Phe) c.722G>T (p.Cys241Phe) c.665G>T (p.Cys222Phe) c.728G>T (p.Cys243Phe) c.716G>T (p.Cys239Phe) | |
| 2 | g.144403986C>G | CA348714707 | ZEB2 | c.*586G>C (n.*586G>C) c.-41G>C (n.-41G>C) c.737G>C (p.Cys246Ser) n.706G>C c.401G>C (p.Cys134Ser) c.*454G>C (n.*454G>C) n.837G>C c.-133-5136G>C (n.-133-5136G>C) c.734G>C (p.Cys245Ser) c.821G>C (p.Cys274Ser) c.476G>C (p.Cys159Ser) c.824G>C (p.Cys275Ser) c.722G>C (p.Cys241Ser) c.665G>C (p.Cys222Ser) c.728G>C (p.Cys243Ser) c.716G>C (p.Cys239Ser) | |
| 2 | g.144403986C>T | CA348714708 | ZEB2 | c.*586G>A (n.*586G>A) c.-41G>A (n.-41G>A) c.737G>A (p.Cys246Tyr) n.706G>A c.401G>A (p.Cys134Tyr) c.*454G>A (n.*454G>A) n.837G>A c.-133-5136G>A (n.-133-5136G>A) c.734G>A (p.Cys245Tyr) c.821G>A (p.Cys274Tyr) c.476G>A (p.Cys159Tyr) c.824G>A (p.Cys275Tyr) c.722G>A (p.Cys241Tyr) c.665G>A (p.Cys222Tyr) c.728G>A (p.Cys243Tyr) c.716G>A (p.Cys239Tyr) | |
| 2 | g.144403987A= | CA1294887189 | ZEB2 | c.*585T= (n.*585T=) c.-42T= (n.-42T=) c.736T= (p.Cys246=) n.705T= c.400T= (p.Cys134=) c.*453T= (n.*453T=) n.836T= c.-133-5137T= (n.-133-5137T=) c.733T= (p.Cys245=) c.820T= (p.Cys274=) c.475T= (p.Cys159=) c.823T= (p.Cys275=) c.721T= (p.Cys241=) c.664T= (p.Cys222=) c.727T= (p.Cys243=) c.715T= (p.Cys239=) | |
| 2 | g.144403987A>C | CA348714710 | ZEB2 | c.*585T>G (n.*585T>G) c.-42T>G (n.-42T>G) c.736T>G (p.Cys246Gly) n.705T>G c.400T>G (p.Cys134Gly) c.*453T>G (n.*453T>G) n.836T>G c.-133-5137T>G (n.-133-5137T>G) c.733T>G (p.Cys245Gly) c.820T>G (p.Cys274Gly) c.475T>G (p.Cys159Gly) c.823T>G (p.Cys275Gly) c.721T>G (p.Cys241Gly) c.664T>G (p.Cys222Gly) c.727T>G (p.Cys243Gly) c.715T>G (p.Cys239Gly) | gnomAD v4 |
| 2 | g.144403987A>G | CA1898424 | ZEB2 | c.*585T>C (n.*585T>C) c.-42T>C (n.-42T>C) c.736T>C (p.Cys246Arg) n.705T>C c.400T>C (p.Cys134Arg) c.*453T>C (n.*453T>C) n.836T>C c.-133-5137T>C (n.-133-5137T>C) c.733T>C (p.Cys245Arg) c.820T>C (p.Cys274Arg) c.475T>C (p.Cys159Arg) c.823T>C (p.Cys275Arg) c.721T>C (p.Cys241Arg) c.664T>C (p.Cys222Arg) c.727T>C (p.Cys243Arg) c.715T>C (p.Cys239Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.144403987A>T | CA348714709 | ZEB2 | c.*585T>A (n.*585T>A) c.-42T>A (n.-42T>A) c.736T>A (p.Cys246Ser) n.705T>A c.400T>A (p.Cys134Ser) c.*453T>A (n.*453T>A) n.836T>A c.-133-5137T>A (n.-133-5137T>A) c.733T>A (p.Cys245Ser) c.820T>A (p.Cys274Ser) c.475T>A (p.Cys159Ser) c.823T>A (p.Cys275Ser) c.721T>A (p.Cys241Ser) c.664T>A (p.Cys222Ser) c.727T>A (p.Cys243Ser) c.715T>A (p.Cys239Ser) | |
| 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 |