Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.144403976C>ACA1898423ZEB2c.*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
2g.144403976C=CA1294887183ZEB2c.*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=)
2g.144403976C>GCA429218498ZEB2c.*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
2g.144403976C>TCA272832ZEB2c.*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
2g.144403977G>ACA348714682ZEB2c.*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
2g.144403977G>CCA348714684ZEB2c.*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)
2g.144403977G=CA1294887184ZEB2c.*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=)
2g.144403977G>TCA348714683ZEB2c.*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)
2g.144403978T>ACA348714685ZEB2c.*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)
2g.144403978T>CCA348714686ZEB2c.*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
2g.144403978T>GCA348714687ZEB2c.*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)
2g.144403978T=CA1294887185ZEB2c.*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=)
2g.144403979G>ACA429218503ZEB2c.*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
2g.144403979G>CCA348714688ZEB2c.*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)
2g.144403979G>TCA348714689ZEB2c.*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)
2g.144403979_144403980insACA429218504ZEB2c.*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?)
2g.144403980T>ACA348714690ZEB2c.*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)
2g.144403980T>CCA348714691ZEB2c.*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
2g.144403980T>GCA348714692ZEB2c.*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)
2g.144403981A>CCA348714693ZEB2c.*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)
2g.144403981A>GCA348714694ZEB2c.*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
2g.144403981A>TCA348714695ZEB2c.*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)
2g.144403982G>ACA429218507ZEB2c.*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
2g.144403982G>CCA348714697ZEB2c.*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)
2g.144403982G=CA1294887186ZEB2c.*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=)
2g.144403982G>TCA348714696ZEB2c.*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)
2g.144403983C>ACA348714698ZEB2c.*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)
2g.144403983C=CA1294887187ZEB2c.*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=)
2g.144403983C>GCA348714699ZEB2c.*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
2g.144403983C>TCA348714700ZEB2c.*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)
2g.144403984T>ACA348714701ZEB2c.*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)
2g.144403984T>CCA348714702ZEB2c.*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
2g.144403984T>GCA348714703ZEB2c.*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)
2g.144403984T=CA1294887188ZEB2c.*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=)
2g.144403985A>CCA348714704ZEB2c.*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)
2g.144403985A>GCA429218510ZEB2c.*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=)
2g.144403985A>TCA348714705ZEB2c.*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)
2g.144403986C>ACA348714706ZEB2c.*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)
2g.144403986C>GCA348714707ZEB2c.*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)
2g.144403986C>TCA348714708ZEB2c.*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)
2g.144403987A=CA1294887189ZEB2c.*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=)
2g.144403987A>CCA348714710ZEB2c.*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
2g.144403987A>GCA1898424ZEB2c.*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
2g.144403987A>TCA348714709ZEB2c.*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)
2g.144403988G>ACA429218511ZEB2c.*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
2g.144403988G>CCA429218512ZEB2c.*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
2g.144403988G=CA1294887190ZEB2c.*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=)
2g.144403988G>TCA429218513ZEB2c.*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=)
2g.144403989A>CCA348714711ZEB2c.*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)
2g.144403989A>GCA348714712ZEB2c.*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
2g.144403989A>TCA348714713ZEB2c.*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)
2g.144403990G>ACA348714714ZEB2c.*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
2g.144403990G>CCA348714715ZEB2c.*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)
2g.144403990G>TCA348714716ZEB2c.*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)
2g.144403991A=CA1294887191ZEB2c.*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=)
2g.144403991A>CCA429218515ZEB2c.*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
2g.144403991A>GCA429218517ZEB2c.*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
2g.144403991A>TCA429218516ZEB2c.*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=)
2g.144403992G>ACA348714719ZEB2c.*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
2g.144403992G>CCA348714717ZEB2c.*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)
2g.144403992G>TCA348714718ZEB2c.*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)
2g.144403993G>ACA297589ZEB2c.*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
2g.144403993G>CCA348714720ZEB2c.*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)
2g.144403993G=CA1294887192ZEB2c.*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=)
2g.144403993G>TCA348714721ZEB2c.*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)
2g.144403994G>ACA429218519ZEB2c.*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
2g.144403994G>CCA348714722ZEB2c.*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)
2g.144403994G=CA1294887193ZEB2c.*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=)
2g.144403994G>TCA348714723ZEB2c.*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)
2g.144403995C>ACA348714724ZEB2c.*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
2g.144403995C>GCA348714726ZEB2c.*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)
2g.144403995C>TCA348714725ZEB2c.*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)
2g.144403996A>CCA348714727ZEB2c.*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)
2g.144403996A>GCA348714728ZEB2c.*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)
2g.144403996A>TCA348714729ZEB2c.*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)
2g.144403997G>ACA57561777ZEB2c.*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
2g.144403997G>CCA429218522ZEB2c.*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=)
2g.144403997G=CA1294887194ZEB2c.*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=)
2g.144403997G>TCA429218520ZEB2c.*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
2g.144403998G>ACA348714730ZEB2c.*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
2g.144403998G>CCA348714731ZEB2c.*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)
2g.144403998G=CA1294887195ZEB2c.*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=)
2g.144403998G>TCA348714732ZEB2c.*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)
2g.144403999A=CA1294887196ZEB2c.*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=)
2g.144403999A>CCA348714733ZEB2c.*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)
2g.144403999A>GCA348714734ZEB2c.*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
2g.144403999A>TCA348714735ZEB2c.*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)
2g.144404000A>CCA348714736ZEB2c.*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)
2g.144404000A>GCA429218523ZEB2c.*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
2g.144404000A>TCA348714737ZEB2c.*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)
2g.144404001A>CCA348714740ZEB2c.*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)
2g.144404001A>GCA348714739ZEB2c.*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)
2g.144404001A>TCA348714738ZEB2c.*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)
2g.144404002A>CCA348714741ZEB2c.*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)
2g.144404002A>GCA348714742ZEB2c.*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)
2g.144404002A>TCA348714743ZEB2c.*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)
2g.144404003_144404034delCA2586965034ZEB2c.*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)
2g.144404003G>ACA57561787ZEB2c.*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
2g.144404003G>CCA348714744ZEB2c.*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)
2g.144404003G=CA1294887197ZEB2c.*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=)
2g.144404003G>TCA348714745ZEB2c.*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)
2g.144404004T>ACA348714746ZEB2c.*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)
2g.144404004T>CCA348714747ZEB2c.*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
2g.144404004T>GCA348714748ZEB2c.*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)
2g.144404005T>ACA348714749ZEB2c.*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)
2g.144404005T>CCA348714750ZEB2c.*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)
2g.144404005T>GCA348714751ZEB2c.*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
2g.144404006C>ACA348714752ZEB2c.*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
2g.144404006C>GCA348714753ZEB2c.*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
2g.144404006C>TCA429218527ZEB2c.*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=)
2g.144404007delCA2586965035ZEB2c.*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)
2g.144404007T>ACA348714756ZEB2c.*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)
2g.144404007T>CCA348714755ZEB2c.*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)
2g.144404007T>GCA348714754ZEB2c.*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
2g.144404008delCA2586965036ZEB2c.*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
2g.144404008C>ACA348714757ZEB2c.*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)
2g.144404008C>GCA348714758ZEB2c.*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)
2g.144404008C>TCA348714759ZEB2c.*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)
2g.144404009T>ACA348714760ZEB2c.*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
2g.144404009T>CCA429218532ZEB2c.*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
2g.144404009T>GCA348714761ZEB2c.*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)
2g.144404010delCA429218531ZEB2c.*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)
2g.144404010T>ACA348714762ZEB2c.*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)
2g.144404010T>CCA348714763ZEB2c.*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)
2g.144404010T>GCA348714764ZEB2c.*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)
2g.144404011C>ACA348714765ZEB2c.*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
2g.144404011C>GCA348714766ZEB2c.*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)
2g.144404011C>TCA348714767ZEB2c.*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
2g.144404012A=CA1294887198ZEB2c.*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=)
2g.144404012A>CCA348714768ZEB2c.*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)
2g.144404012A>GCA1898425ZEB2c.*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
2g.144404012A>TCA348714769ZEB2c.*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)
2g.144404013T>ACA348714771ZEB2c.*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)
2g.144404013T>CCA57561799ZEB2c.*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
2g.144404013T>GCA348714770ZEB2c.*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)
2g.144404013T=CA1294887199ZEB2c.*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=)
2g.144404014T>ACA348714772ZEB2c.*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)
2g.144404014T>CCA348714773ZEB2c.*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)
2g.144404014T>GCA348714774ZEB2c.*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)
2g.144404015C>ACA348714775ZEB2c.*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)
2g.144404015C>GCA348714776ZEB2c.*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)
2g.144404015C>TCA429218537ZEB2c.*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
2g.144404016T>ACA348714777ZEB2c.*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)
2g.144404016T>CCA348714778ZEB2c.*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
2g.144404016T>GCA348714779ZEB2c.*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)
2g.144404017T>ACA348714780ZEB2c.*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)
2g.144404017T>CCA348714781ZEB2c.*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)
2g.144404017T>GCA348714782ZEB2c.*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)
2g.144404019_144404020delCA2586965037ZEB2c.*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)
2g.144404018C>ACA348714783ZEB2c.*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)
2g.144404018C>GCA348714784ZEB2c.*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)
2g.144404018C>TCA429218539ZEB2c.*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=)
2g.144404019T>ACA348714785ZEB2c.*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)
2g.144404019T>CCA57561839ZEB2c.*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
2g.144404019T>GCA348714786ZEB2c.*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)
2g.144404019T=CA1294887201ZEB2c.*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=)
2g.144404019_144404020delinsTCCA1294887200ZEB2c.*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=)
2g.144404020delCA274512ZEB2c.*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
2g.144404020C>ACA348714787ZEB2c.*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
2g.144404020C=CA1294887202ZEB2c.*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=)
2g.144404020C>GCA348714788ZEB2c.*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)
2g.144404020C>TCA348714789ZEB2c.*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
2g.144404021G>ACA1898426ZEB2c.*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
2g.144404021G>CCA348714790ZEB2c.*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)
2g.144404021G=CA1294887203ZEB2c.*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=)
2g.144404021G>TCA348714791ZEB2c.*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)
2g.144404022T>ACA1898427ZEB2c.*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
2g.144404022T>CCA348714792ZEB2c.*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)
2g.144404022T>GCA348714793ZEB2c.*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)
2g.144404022T=CA1294887204ZEB2c.*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=)
2g.144404023G>ACA348714796ZEB2c.*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)
2g.144404023G>CCA348714795ZEB2c.*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)
2g.144404023G>TCA348714794ZEB2c.*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
2g.144404024G>ACA429218541ZEB2c.*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=)
2g.144404024G>CCA429218542ZEB2c.*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=)
2g.144404024G>TCA429218543ZEB2c.*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=)
2g.144404025C>ACA348714797ZEB2c.*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)
2g.144404025C>GCA348714798ZEB2c.*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)
2g.144404025C>TCA348714799ZEB2c.*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
2g.144404026G>ACA348714800ZEB2c.*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
2g.144404026G>CCA348714801ZEB2c.*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)
2g.144404026G=CA1294887205ZEB2c.*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=)
2g.144404026G>TCA348714802ZEB2c.*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)
2g.144404027G>ACA16610156ZEB2c.*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
2g.144404027G>CCA348714803ZEB2c.*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
2g.144404027G=CA1294887206ZEB2c.*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=)
2g.144404027G>TCA348714804ZEB2c.*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
2g.144404028T>ACA348714805ZEB2c.*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)
2g.144404028T>CCA348714807ZEB2c.*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
2g.144404028T>GCA348714806ZEB2c.*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)
2g.144404028T=CA1294887207ZEB2c.*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=)
2g.144404029A>CCA348714808ZEB2c.*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)
2g.144404029A>GCA348714809ZEB2c.*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)
2g.144404029A>TCA348714810ZEB2c.*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)
2g.144404030C>ACA348714811ZEB2c.*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)
2g.144404030C>GCA348714812ZEB2c.*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)
2g.144404030C>TCA429218549ZEB2c.*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=)
2g.144404031T>ACA348714813ZEB2c.*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)
2g.144404031T>CCA348714815ZEB2c.*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)
2g.144404031T>GCA348714814ZEB2c.*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)
2g.144404032dupCA2573051662ZEB2c.*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
2g.144404032T>ACA348714816ZEB2c.*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)
2g.144404032T>CCA348714817ZEB2c.*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)
2g.144404032T>GCA348714818ZEB2c.*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)
2g.144404033G>ACA429218556ZEB2c.*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
2g.144404033G>CCA348714819ZEB2c.*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)
2g.144404033G=CA1294887208ZEB2c.*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=)
2g.144404033G>TCA429218557ZEB2c.*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=)
2g.144404033dupCA2586965038ZEB2c.*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)
2g.144404034A>CCA348714820ZEB2c.*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)
2g.144404034A>GCA348714821ZEB2c.*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)
2g.144404034A>TCA348714822ZEB2c.*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)
2g.144404035T>ACA348714823ZEB2c.*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)
2g.144404035T>CCA348714824ZEB2c.*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
2g.144404035T>GCA348714825ZEB2c.*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)
2g.144404036G>ACA429218562ZEB2c.*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=)
2g.144404036G>CCA348714826ZEB2c.*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)
2g.144404036G>TCA348714827ZEB2c.*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)
2g.144404037T>ACA348714828ZEB2c.*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)
2g.144404037T>CCA348714830ZEB2c.*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)
2g.144404037T>GCA348714829ZEB2c.*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)
2g.144404038G>ACA348714831ZEB2c.*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
2g.144404038G>CCA348714832ZEB2c.*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)
2g.144404038G>TCA348714833ZEB2c.*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)
2g.144404039C>ACA348714834ZEB2c.*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
2g.144404039C=CA1294887209ZEB2c.*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=)
2g.144404039C>GCA348714835ZEB2c.*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)
2g.144404039C>TCA1898428ZEB2c.*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
2g.144404040T>ACA348714838ZEB2c.*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)
2g.144404040T>CCA348714836ZEB2c.*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)
2g.144404040T>GCA348714837ZEB2c.*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)
2g.144404041C>ACA348714839ZEB2c.*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)
2g.144404041C>GCA348714840ZEB2c.*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)
2g.144404041C>TCA348714841ZEB2c.*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)
2g.144404042C>ACA348714842ZEB2c.*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)
2g.144404042C>GCA348714843ZEB2c.*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)
2g.144404042C>TCA429218568ZEB2c.*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
2g.144404043T>ACA348714844ZEB2c.*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)
2g.144404043T>CCA348714846ZEB2c.*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)
2g.144404043T>GCA348714845ZEB2c.*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)
2g.144404044T>ACA348714847ZEB2c.*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)
2g.144404044T>CCA348714848ZEB2c.*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)
2g.144404044T>GCA348714849ZEB2c.*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)
2g.144404045C>ACA429218573ZEB2c.*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=)
2g.144404045C>GCA429218574ZEB2c.*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
2g.144404045C>TCA429218575ZEB2c.*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
2g.144404046A>CCA348714850ZEB2c.*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)
2g.144404046A>GCA348714851ZEB2c.*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
2g.144404046A>TCA348714852ZEB2c.*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)
2g.144404047G>ACA429218577ZEB2c.*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
2g.144404047G>CCA348714853ZEB2c.*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)
2g.144404047G=CA1294887210ZEB2c.*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=)
2g.144404047G>TCA348714854ZEB2c.*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)
2g.144404048T>ACA429218578ZEB2c.*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=)
2g.144404048T>CCA429218580ZEB2c.*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
2g.144404048T>GCA429218581ZEB2c.*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
2g.144404049G>ACA348714855ZEB2c.*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)
2g.144404049G>CCA348714856ZEB2c.*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)
2g.144404049G=CA1294887211ZEB2c.*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=)
2g.144404049G>TCA277036ZEB2c.*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
2g.144404050A>CCA348714857ZEB2c.*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)
2g.144404050A>GCA348714859ZEB2c.*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
2g.144404050A>TCA348714858ZEB2c.*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)
2g.144404051T>ACA429218582ZEB2c.*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=)
2g.144404051T>CCA429218583ZEB2c.*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
2g.144404051T>GCA429218584ZEB2c.*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=)
2g.144404052G>ACA348714860ZEB2c.*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)
2g.144404052G>CCA348714861ZEB2c.*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)
2g.144404052G>TCA348714862ZEB2c.*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)
2g.144404053T>ACA348714863ZEB2c.*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
2g.144404053T>CCA348714864ZEB2c.*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)
2g.144404053T>GCA348714865ZEB2c.*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)
2g.144404053T=CA1294887212ZEB2c.*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=)
2g.144404054C>ACA348714867ZEB2c.*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)
2g.144404054C>GCA348714866ZEB2c.*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)
2g.144404054C>TCA429218586ZEB2c.*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=)
2g.144404055A>CCA348714868ZEB2c.*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)
2g.144404055A>GCA348714869ZEB2c.*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)
2g.144404055A>TCA348714870ZEB2c.*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)
2g.144404056A>CCA348714871ZEB2c.*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)
2g.144404056A>GCA429218590ZEB2c.*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
2g.144404056A>TCA348714872ZEB2c.*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)
2g.144404057G>ACA1898429ZEB2c.*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
2g.144404057G>CCA429218591ZEB2c.*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=)
2g.144404057G=CA1294887213ZEB2c.*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=)
2g.144404057G>TCA429218592ZEB2c.*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=)
2g.144404058C>ACA348714875ZEB2c.*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)
2g.144404058C=CA1294887214ZEB2c.*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=)
2g.144404058C>GCA348714873ZEB2c.*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)
2g.144404058C>TCA348714874ZEB2c.*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
2g.144404059G>ACA297587ZEB2c.*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
2g.144404059G>CCA348714876ZEB2c.*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)
2g.144404059G=CA1294887215ZEB2c.*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=)
2g.144404059G>TCA348714877ZEB2c.*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)
2g.144404060C>ACA348714878ZEB2c.*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)
2g.144404060C>GCA348714879ZEB2c.*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)
2g.144404060C>TCA429218596ZEB2c.*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=)
2g.144404061T>ACA348714880ZEB2c.*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)
2g.144404061T>CCA57561893ZEB2c.*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
2g.144404061T>GCA348714881ZEB2c.*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)
2g.144404061T=CA1294887216ZEB2c.*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=)
2g.144404062T>ACA348714882ZEB2c.*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)
2g.144404062T>CCA348714883ZEB2c.*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)
2g.144404062T>GCA348714884ZEB2c.*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)
2g.144404063G>ACA429218598ZEB2c.*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
2g.144404063G>CCA274509ZEB2c.*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
2g.144404063G=CA1294887217ZEB2c.*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=)
2g.144404063G>TCA57561908ZEB2c.*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
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.144404064T>ACA348714885ZEB2c.*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)
2g.144404064T>CCA348714886ZEB2c.*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
2g.144404064T>GCA348714887ZEB2c.*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)
2g.144404064T=CA1294887219ZEB2c.*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=)
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)

Number of alleles fetched