Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.144403970G>ACA429218489ZEB2c.*602C>T (n.*602C>T)
c.-25C>T (n.-25C>T)
c.753C>T (p.Ala251=)
n.722C>T
c.417C>T (p.Ala139=)
c.*470C>T (n.*470C>T)
n.853C>T
c.-133-5120C>T (n.-133-5120C>T)
c.750C>T (p.Ala250=)
c.837C>T (p.Ala279=)
c.492C>T (p.Ala164=)
c.840C>T (p.Ala280=)
c.738C>T (p.Ala246=)
c.681C>T (p.Ala227=)
c.744C>T (p.Ala248=)
c.732C>T (p.Ala244=)
 ClinVar
2g.144403970G>CCA429218492ZEB2c.*602C>G (n.*602C>G)
c.-25C>G (n.-25C>G)
c.753C>G (p.Ala251=)
n.722C>G
c.417C>G (p.Ala139=)
c.*470C>G (n.*470C>G)
n.853C>G
c.-133-5120C>G (n.-133-5120C>G)
c.750C>G (p.Ala250=)
c.837C>G (p.Ala279=)
c.492C>G (p.Ala164=)
c.840C>G (p.Ala280=)
c.738C>G (p.Ala246=)
c.681C>G (p.Ala227=)
c.744C>G (p.Ala248=)
c.732C>G (p.Ala244=)
2g.144403970G>TCA429218490ZEB2c.*602C>A (n.*602C>A)
c.-25C>A (n.-25C>A)
c.753C>A (p.Ala251=)
n.722C>A
c.417C>A (p.Ala139=)
c.*470C>A (n.*470C>A)
n.853C>A
c.-133-5120C>A (n.-133-5120C>A)
c.750C>A (p.Ala250=)
c.837C>A (p.Ala279=)
c.492C>A (p.Ala164=)
c.840C>A (p.Ala280=)
c.738C>A (p.Ala246=)
c.681C>A (p.Ala227=)
c.744C>A (p.Ala248=)
c.732C>A (p.Ala244=)
2g.144403971G>ACA348714668ZEB2c.*601C>T (n.*601C>T)
c.-26C>T (n.-26C>T)
c.752C>T (p.Ala251Val)
n.721C>T
c.416C>T (p.Ala139Val)
c.*469C>T (n.*469C>T)
n.852C>T
c.-133-5121C>T (n.-133-5121C>T)
c.749C>T (p.Ala250Val)
c.836C>T (p.Ala279Val)
c.491C>T (p.Ala164Val)
c.839C>T (p.Ala280Val)
c.737C>T (p.Ala246Val)
c.680C>T (p.Ala227Val)
c.743C>T (p.Ala248Val)
c.731C>T (p.Ala244Val)
2g.144403971G>CCA348714669ZEB2c.*601C>G (n.*601C>G)
c.-26C>G (n.-26C>G)
c.752C>G (p.Ala251Gly)
n.721C>G
c.416C>G (p.Ala139Gly)
c.*469C>G (n.*469C>G)
n.852C>G
c.-133-5121C>G (n.-133-5121C>G)
c.749C>G (p.Ala250Gly)
c.836C>G (p.Ala279Gly)
c.491C>G (p.Ala164Gly)
c.839C>G (p.Ala280Gly)
c.737C>G (p.Ala246Gly)
c.680C>G (p.Ala227Gly)
c.743C>G (p.Ala248Gly)
c.731C>G (p.Ala244Gly)
2g.144403971G>TCA348714670ZEB2c.*601C>A (n.*601C>A)
c.-26C>A (n.-26C>A)
c.752C>A (p.Ala251Asp)
n.721C>A
c.416C>A (p.Ala139Asp)
c.*469C>A (n.*469C>A)
n.852C>A
c.-133-5121C>A (n.-133-5121C>A)
c.749C>A (p.Ala250Asp)
c.836C>A (p.Ala279Asp)
c.491C>A (p.Ala164Asp)
c.839C>A (p.Ala280Asp)
c.737C>A (p.Ala246Asp)
c.680C>A (p.Ala227Asp)
c.743C>A (p.Ala248Asp)
c.731C>A (p.Ala244Asp)
2g.144403972C>ACA348714671ZEB2c.*600G>T (n.*600G>T)
c.-27G>T (n.-27G>T)
c.751G>T (p.Ala251Ser)
n.720G>T
c.415G>T (p.Ala139Ser)
c.*468G>T (n.*468G>T)
n.851G>T
c.-133-5122G>T (n.-133-5122G>T)
c.748G>T (p.Ala250Ser)
c.835G>T (p.Ala279Ser)
c.490G>T (p.Ala164Ser)
c.838G>T (p.Ala280Ser)
c.736G>T (p.Ala246Ser)
c.679G>T (p.Ala227Ser)
c.742G>T (p.Ala248Ser)
c.730G>T (p.Ala244Ser)
2g.144403972C=CA1294887182ZEB2c.*600G= (n.*600G=)
c.-27G= (n.-27G=)
c.751G= (p.Ala251=)
n.720G=
c.415G= (p.Ala139=)
c.*468G= (n.*468G=)
n.851G=
c.-133-5122G= (n.-133-5122G=)
c.748G= (p.Ala250=)
c.835G= (p.Ala279=)
c.490G= (p.Ala164=)
c.838G= (p.Ala280=)
c.736G= (p.Ala246=)
c.679G= (p.Ala227=)
c.742G= (p.Ala248=)
c.730G= (p.Ala244=)
2g.144403972C>GCA348714672ZEB2c.*600G>C (n.*600G>C)
c.-27G>C (n.-27G>C)
c.751G>C (p.Ala251Pro)
n.720G>C
c.415G>C (p.Ala139Pro)
c.*468G>C (n.*468G>C)
n.851G>C
c.-133-5122G>C (n.-133-5122G>C)
c.748G>C (p.Ala250Pro)
c.835G>C (p.Ala279Pro)
c.490G>C (p.Ala164Pro)
c.838G>C (p.Ala280Pro)
c.736G>C (p.Ala246Pro)
c.679G>C (p.Ala227Pro)
c.742G>C (p.Ala248Pro)
c.730G>C (p.Ala244Pro)
2g.144403972C>TCA348714673ZEB2c.*600G>A (n.*600G>A)
c.-27G>A (n.-27G>A)
c.751G>A (p.Ala251Thr)
n.720G>A
c.415G>A (p.Ala139Thr)
c.*468G>A (n.*468G>A)
n.851G>A
c.-133-5122G>A (n.-133-5122G>A)
c.748G>A (p.Ala250Thr)
c.835G>A (p.Ala279Thr)
c.490G>A (p.Ala164Thr)
c.838G>A (p.Ala280Thr)
c.736G>A (p.Ala246Thr)
c.679G>A (p.Ala227Thr)
c.742G>A (p.Ala248Thr)
c.730G>A (p.Ala244Thr)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.144403973A>CCA348714674ZEB2c.*599T>G (n.*599T>G)
c.-28T>G (n.-28T>G)
c.750T>G (p.Phe250Leu)
n.719T>G
c.414T>G (p.Phe138Leu)
c.*467T>G (n.*467T>G)
n.850T>G
c.-133-5123T>G (n.-133-5123T>G)
c.747T>G (p.Phe249Leu)
c.834T>G (p.Phe278Leu)
c.489T>G (p.Phe163Leu)
c.837T>G (p.Phe279Leu)
c.735T>G (p.Phe245Leu)
c.678T>G (p.Phe226Leu)
c.741T>G (p.Phe247Leu)
c.729T>G (p.Phe243Leu)
2g.144403973A>GCA429218496ZEB2c.*599T>C (n.*599T>C)
c.-28T>C (n.-28T>C)
c.750T>C (p.Phe250=)
n.719T>C
c.414T>C (p.Phe138=)
c.*467T>C (n.*467T>C)
n.850T>C
c.-133-5123T>C (n.-133-5123T>C)
c.747T>C (p.Phe249=)
c.834T>C (p.Phe278=)
c.489T>C (p.Phe163=)
c.837T>C (p.Phe279=)
c.735T>C (p.Phe245=)
c.678T>C (p.Phe226=)
c.741T>C (p.Phe247=)
c.729T>C (p.Phe243=)
 COSMIC
2g.144403973A>TCA348714675ZEB2c.*599T>A (n.*599T>A)
c.-28T>A (n.-28T>A)
c.750T>A (p.Phe250Leu)
n.719T>A
c.414T>A (p.Phe138Leu)
c.*467T>A (n.*467T>A)
n.850T>A
c.-133-5123T>A (n.-133-5123T>A)
c.747T>A (p.Phe249Leu)
c.834T>A (p.Phe278Leu)
c.489T>A (p.Phe163Leu)
c.837T>A (p.Phe279Leu)
c.735T>A (p.Phe245Leu)
c.678T>A (p.Phe226Leu)
c.741T>A (p.Phe247Leu)
c.729T>A (p.Phe243Leu)
2g.144403974A>CCA348714676ZEB2c.*598T>G (n.*598T>G)
c.-29T>G (n.-29T>G)
c.749T>G (p.Phe250Cys)
n.718T>G
c.413T>G (p.Phe138Cys)
c.*466T>G (n.*466T>G)
n.849T>G
c.-133-5124T>G (n.-133-5124T>G)
c.746T>G (p.Phe249Cys)
c.833T>G (p.Phe278Cys)
c.488T>G (p.Phe163Cys)
c.836T>G (p.Phe279Cys)
c.734T>G (p.Phe245Cys)
c.677T>G (p.Phe226Cys)
c.740T>G (p.Phe247Cys)
c.728T>G (p.Phe243Cys)
2g.144403974A>GCA348714678ZEB2c.*598T>C (n.*598T>C)
c.-29T>C (n.-29T>C)
c.749T>C (p.Phe250Ser)
n.718T>C
c.413T>C (p.Phe138Ser)
c.*466T>C (n.*466T>C)
n.849T>C
c.-133-5124T>C (n.-133-5124T>C)
c.746T>C (p.Phe249Ser)
c.833T>C (p.Phe278Ser)
c.488T>C (p.Phe163Ser)
c.836T>C (p.Phe279Ser)
c.734T>C (p.Phe245Ser)
c.677T>C (p.Phe226Ser)
c.740T>C (p.Phe247Ser)
c.728T>C (p.Phe243Ser)
2g.144403974A>TCA348714677ZEB2c.*598T>A (n.*598T>A)
c.-29T>A (n.-29T>A)
c.749T>A (p.Phe250Tyr)
n.718T>A
c.413T>A (p.Phe138Tyr)
c.*466T>A (n.*466T>A)
n.849T>A
c.-133-5124T>A (n.-133-5124T>A)
c.746T>A (p.Phe249Tyr)
c.833T>A (p.Phe278Tyr)
c.488T>A (p.Phe163Tyr)
c.836T>A (p.Phe279Tyr)
c.734T>A (p.Phe245Tyr)
c.677T>A (p.Phe226Tyr)
c.740T>A (p.Phe247Tyr)
c.728T>A (p.Phe243Tyr)
2g.144403975A>CCA348714679ZEB2c.*597T>G (n.*597T>G)
c.-30T>G (n.-30T>G)
c.748T>G (p.Phe250Val)
n.717T>G
c.412T>G (p.Phe138Val)
c.*465T>G (n.*465T>G)
n.848T>G
c.-133-5125T>G (n.-133-5125T>G)
c.745T>G (p.Phe249Val)
c.832T>G (p.Phe278Val)
c.487T>G (p.Phe163Val)
c.835T>G (p.Phe279Val)
c.733T>G (p.Phe245Val)
c.676T>G (p.Phe226Val)
c.739T>G (p.Phe247Val)
c.727T>G (p.Phe243Val)
2g.144403975A>GCA348714681ZEB2c.*597T>C (n.*597T>C)
c.-30T>C (n.-30T>C)
c.748T>C (p.Phe250Leu)
n.717T>C
c.412T>C (p.Phe138Leu)
c.*465T>C (n.*465T>C)
n.848T>C
c.-133-5125T>C (n.-133-5125T>C)
c.745T>C (p.Phe249Leu)
c.832T>C (p.Phe278Leu)
c.487T>C (p.Phe163Leu)
c.835T>C (p.Phe279Leu)
c.733T>C (p.Phe245Leu)
c.676T>C (p.Phe226Leu)
c.739T>C (p.Phe247Leu)
c.727T>C (p.Phe243Leu)
2g.144403975A>TCA348714680ZEB2c.*597T>A (n.*597T>A)
c.-30T>A (n.-30T>A)
c.748T>A (p.Phe250Ile)
n.717T>A
c.412T>A (p.Phe138Ile)
c.*465T>A (n.*465T>A)
n.848T>A
c.-133-5125T>A (n.-133-5125T>A)
c.745T>A (p.Phe249Ile)
c.832T>A (p.Phe278Ile)
c.487T>A (p.Phe163Ile)
c.835T>A (p.Phe279Ile)
c.733T>A (p.Phe245Ile)
c.676T>A (p.Phe226Ile)
c.739T>A (p.Phe247Ile)
c.727T>A (p.Phe243Ile)
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)

Number of alleles fetched