Chr Mutation (hg38) CAid Gene Transcript Linkouts
3g.177047522A>CCA355552303TBL1XR1,TBL1XR1-AS1c.730T>G (p.Ser244Ala)
c.469T>G (p.Ser157Ala)
c.335T>G
c.760T>G (p.Ser254Ala)
c.769T>G (p.Ser257Ala)
n.518-112A>C
3g.177047522A>GCA355552302TBL1XR1,TBL1XR1-AS1c.730T>C (p.Ser244Pro)
c.469T>C (p.Ser157Pro)
c.335T>C
c.760T>C (p.Ser254Pro)
c.769T>C (p.Ser257Pro)
n.518-112A>G
3g.177047522A>TCA355552301TBL1XR1,TBL1XR1-AS1c.730T>A (p.Ser244Thr)
c.469T>A (p.Ser157Thr)
c.335T>A
c.760T>A (p.Ser254Thr)
c.769T>A (p.Ser257Thr)
n.518-112A>T
3g.177047523A>CCA436985741TBL1XR1,TBL1XR1-AS1c.729T>G (p.Gly243=)
c.468T>G (p.Gly156=)
c.334T>G
c.759T>G (p.Gly253=)
c.768T>G (p.Gly256=)
n.518-111A>C
3g.177047523A>GCA436985740TBL1XR1,TBL1XR1-AS1c.729T>C (p.Gly243=)
c.468T>C (p.Gly156=)
c.334T>C
c.759T>C (p.Gly253=)
c.768T>C (p.Gly256=)
n.518-111A>G
3g.177047523A>TCA436985739TBL1XR1,TBL1XR1-AS1c.729T>A (p.Gly243=)
c.468T>A (p.Gly156=)
c.334T>A
c.759T>A (p.Gly253=)
c.768T>A (p.Gly256=)
n.518-111A>T
3g.177047524C>ACA355552304TBL1XR1,TBL1XR1-AS1c.728G>T (p.Gly243Val)
c.467G>T (p.Gly156Val)
c.333G>T
c.758G>T (p.Gly253Val)
c.767G>T (p.Gly256Val)
n.518-110C>A
3g.177047524C>GCA355552305TBL1XR1,TBL1XR1-AS1c.728G>C (p.Gly243Ala)
c.467G>C (p.Gly156Ala)
c.333G>C
c.758G>C (p.Gly253Ala)
c.767G>C (p.Gly256Ala)
n.518-110C>G
3g.177047524C>TCA355552306TBL1XR1,TBL1XR1-AS1c.728G>A (p.Gly243Asp)
c.467G>A (p.Gly156Asp)
c.333G>A
c.758G>A (p.Gly253Asp)
c.767G>A (p.Gly256Asp)
n.518-110C>T
 ClinVar dbSNP
3g.177047525C>ACA355552307TBL1XR1,TBL1XR1-AS1c.727G>T (p.Gly243Cys)
c.466G>T (p.Gly156Cys)
c.332G>T
c.757G>T (p.Gly253Cys)
c.766G>T (p.Gly256Cys)
n.518-109C>A
3g.177047525C>GCA355552308TBL1XR1,TBL1XR1-AS1c.727G>C (p.Gly243Arg)
c.466G>C (p.Gly156Arg)
c.332G>C
c.757G>C (p.Gly253Arg)
c.766G>C (p.Gly256Arg)
n.518-109C>G
3g.177047525C>TCA355552309TBL1XR1,TBL1XR1-AS1c.727G>A (p.Gly243Ser)
c.466G>A (p.Gly156Ser)
c.332G>A
c.757G>A (p.Gly253Ser)
c.766G>A (p.Gly256Ser)
n.518-109C>T
3g.177047526A>CCA436985744TBL1XR1,TBL1XR1-AS1c.726T>G (p.Thr242=)
c.465T>G (p.Thr155=)
c.331T>G
c.756T>G (p.Thr252=)
c.765T>G (p.Thr255=)
n.518-108A>C
3g.177047526A>GCA436985743TBL1XR1,TBL1XR1-AS1c.726T>C (p.Thr242=)
c.465T>C (p.Thr155=)
c.331T>C
c.756T>C (p.Thr252=)
c.765T>C (p.Thr255=)
n.518-108A>G
3g.177047526A>TCA436985742TBL1XR1,TBL1XR1-AS1c.726T>A (p.Thr242=)
c.465T>A (p.Thr155=)
c.331T>A
c.756T>A (p.Thr252=)
c.765T>A (p.Thr255=)
n.518-108A>T
3g.177047527G>ACA355552310TBL1XR1,TBL1XR1-AS1c.725C>T (p.Thr242Ile)
c.464C>T (p.Thr155Ile)
c.330C>T
c.755C>T (p.Thr252Ile)
c.764C>T (p.Thr255Ile)
n.518-107G>A
3g.177047527G>CCA355552312TBL1XR1,TBL1XR1-AS1c.725C>G (p.Thr242Ser)
c.464C>G (p.Thr155Ser)
c.330C>G
c.755C>G (p.Thr252Ser)
c.764C>G (p.Thr255Ser)
n.518-107G>C
3g.177047527G>TCA355552311TBL1XR1,TBL1XR1-AS1c.725C>A (p.Thr242Asn)
c.464C>A (p.Thr155Asn)
c.330C>A
c.755C>A (p.Thr252Asn)
c.764C>A (p.Thr255Asn)
n.518-107G>T
3g.177047528T>ACA355552313TBL1XR1,TBL1XR1-AS1c.724A>T (p.Thr242Ser)
c.463A>T (p.Thr155Ser)
c.329A>T
c.754A>T (p.Thr252Ser)
c.763A>T (p.Thr255Ser)
n.518-106T>A
 gnomAD v4
3g.177047528T>CCA355552314TBL1XR1,TBL1XR1-AS1c.724A>G (p.Thr242Ala)
c.463A>G (p.Thr155Ala)
c.329A>G
c.754A>G (p.Thr252Ala)
c.763A>G (p.Thr255Ala)
n.518-106T>C
 ClinVar
3g.177047528T>GCA355552315TBL1XR1,TBL1XR1-AS1c.724A>C (p.Thr242Pro)
c.463A>C (p.Thr155Pro)
c.329A>C
c.754A>C (p.Thr252Pro)
c.763A>C (p.Thr255Pro)
n.518-106T>G
 ClinVar
3g.177047529T>ACA436985745TBL1XR1,TBL1XR1-AS1c.723A>T (p.Ala241=)
c.462A>T (p.Ala154=)
c.328A>T
c.753A>T (p.Ala251=)
c.762A>T (p.Ala254=)
n.518-105T>A
3g.177047529T>CCA436985747TBL1XR1,TBL1XR1-AS1c.723A>G (p.Ala241=)
c.462A>G (p.Ala154=)
c.328A>G
c.753A>G (p.Ala251=)
c.762A>G (p.Ala254=)
n.518-105T>C
3g.177047529T>GCA436985746TBL1XR1,TBL1XR1-AS1c.723A>C (p.Ala241=)
c.462A>C (p.Ala154=)
c.328A>C
c.753A>C (p.Ala251=)
c.762A>C (p.Ala254=)
n.518-105T>G
3g.177047530G>ACA355552316TBL1XR1,TBL1XR1-AS1c.722C>T (p.Ala241Val)
c.461C>T (p.Ala154Val)
c.327C>T
c.752C>T (p.Ala251Val)
c.761C>T (p.Ala254Val)
n.518-104G>A
3g.177047530G>CCA355552317TBL1XR1,TBL1XR1-AS1c.722C>G (p.Ala241Gly)
c.461C>G (p.Ala154Gly)
c.327C>G
c.752C>G (p.Ala251Gly)
c.761C>G (p.Ala254Gly)
n.518-104G>C
3g.177047530G>TCA355552318TBL1XR1,TBL1XR1-AS1c.722C>A (p.Ala241Glu)
c.461C>A (p.Ala154Glu)
c.327C>A
c.752C>A (p.Ala251Glu)
c.761C>A (p.Ala254Glu)
n.518-104G>T
3g.177047531C>ACA355552319TBL1XR1,TBL1XR1-AS1c.721G>T (p.Ala241Ser)
c.460G>T (p.Ala154Ser)
c.326G>T
c.751G>T (p.Ala251Ser)
c.760G>T (p.Ala254Ser)
n.518-103C>A
3g.177047531C>GCA355552320TBL1XR1,TBL1XR1-AS1c.721G>C (p.Ala241Pro)
c.460G>C (p.Ala154Pro)
c.326G>C
c.751G>C (p.Ala251Pro)
c.760G>C (p.Ala254Pro)
n.518-103C>G
3g.177047531C>TCA355552321TBL1XR1,TBL1XR1-AS1c.721G>A (p.Ala241Thr)
c.460G>A (p.Ala154Thr)
c.326G>A
c.751G>A (p.Ala251Thr)
c.760G>A (p.Ala254Thr)
n.518-103C>T
3g.177047532T>ACA436985748TBL1XR1,TBL1XR1-AS1c.720A>T (p.Leu240=)
c.459A>T (p.Leu153=)
c.325A>T
c.750A>T (p.Leu250=)
c.759A>T (p.Leu253=)
n.518-102T>A
3g.177047532T>CCA436985749TBL1XR1,TBL1XR1-AS1c.720A>G (p.Leu240=)
c.459A>G (p.Leu153=)
c.325A>G
c.750A>G (p.Leu250=)
c.759A>G (p.Leu253=)
n.518-102T>C
3g.177047532T>GCA436985750TBL1XR1,TBL1XR1-AS1c.720A>C (p.Leu240=)
c.459A>C (p.Leu153=)
c.325A>C
c.750A>C (p.Leu250=)
c.759A>C (p.Leu253=)
n.518-102T>G
 dbSNP
3g.177047532T=CA1422667587TBL1XR1,TBL1XR1-AS1c.720A= (p.Leu240=)
c.459A= (p.Leu153=)
c.325A=
c.750A= (p.Leu250=)
c.759A= (p.Leu253=)
n.518-102T=
3g.177047533A>CCA355552322TBL1XR1,TBL1XR1-AS1c.719T>G (p.Leu240Arg)
c.458T>G (p.Leu153Arg)
c.324T>G
c.749T>G (p.Leu250Arg)
c.758T>G (p.Leu253Arg)
n.518-101A>C
3g.177047533A>GCA355552323TBL1XR1,TBL1XR1-AS1c.719T>C (p.Leu240Pro)
c.458T>C (p.Leu153Pro)
c.324T>C
c.749T>C (p.Leu250Pro)
c.758T>C (p.Leu253Pro)
n.518-101A>G
3g.177047533A>TCA355552324TBL1XR1,TBL1XR1-AS1c.719T>A (p.Leu240Gln)
c.458T>A (p.Leu153Gln)
c.324T>A
c.749T>A (p.Leu250Gln)
c.758T>A (p.Leu253Gln)
n.518-101A>T
3g.177047534G>ACA436985751TBL1XR1,TBL1XR1-AS1c.718C>T (p.Leu240=)
c.457C>T (p.Leu153=)
c.323C>T
c.748C>T (p.Leu250=)
c.757C>T (p.Leu253=)
n.518-100G>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
3g.177047534G>CCA355552325TBL1XR1,TBL1XR1-AS1c.718C>G (p.Leu240Val)
c.457C>G (p.Leu153Val)
c.323C>G
c.748C>G (p.Leu250Val)
c.757C>G (p.Leu253Val)
n.518-100G>C
 gnomAD v4 COSMIC
3g.177047534G=CA1422667588TBL1XR1,TBL1XR1-AS1c.718C= (p.Leu240=)
c.457C= (p.Leu153=)
c.323C=
c.748C= (p.Leu250=)
c.757C= (p.Leu253=)
n.518-100G=
3g.177047534G>TCA355552326TBL1XR1,TBL1XR1-AS1c.718C>A (p.Leu240Ile)
c.457C>A (p.Leu153Ile)
c.323C>A
c.748C>A (p.Leu250Ile)
c.757C>A (p.Leu253Ile)
n.518-100G>T
 dbSNP gnomAD v4
3g.177047535A=CA1422667589TBL1XR1,TBL1XR1-AS1c.717T= (p.Leu239=)
c.456T= (p.Leu152=)
c.322T=
c.747T= (p.Leu249=)
c.756T= (p.Leu252=)
n.518-99A=
3g.177047535A>CCA89088940TBL1XR1,TBL1XR1-AS1c.717T>G (p.Leu239=)
c.456T>G (p.Leu152=)
c.322T>G
c.747T>G (p.Leu249=)
c.756T>G (p.Leu252=)
n.518-99A>C
 dbSNP gnomAD v3 gnomAD v4
3g.177047535A>GCA436985752TBL1XR1,TBL1XR1-AS1c.717T>C (p.Leu239=)
c.456T>C (p.Leu152=)
c.322T>C
c.747T>C (p.Leu249=)
c.756T>C (p.Leu252=)
n.518-99A>G
3g.177047535A>TCA436985753TBL1XR1,TBL1XR1-AS1c.717T>A (p.Leu239=)
c.456T>A (p.Leu152=)
c.322T>A
c.747T>A (p.Leu249=)
c.756T>A (p.Leu252=)
n.518-99A>T
3g.177047536A>CCA355552327TBL1XR1,TBL1XR1-AS1c.716T>G (p.Leu239Arg)
c.455T>G (p.Leu152Arg)
c.321T>G
c.746T>G (p.Leu249Arg)
c.755T>G (p.Leu252Arg)
n.518-98A>C
3g.177047536A>GCA355552328TBL1XR1,TBL1XR1-AS1c.716T>C (p.Leu239Pro)
c.455T>C (p.Leu152Pro)
c.321T>C
c.746T>C (p.Leu249Pro)
c.755T>C (p.Leu252Pro)
n.518-98A>G
3g.177047536A>TCA355552329TBL1XR1,TBL1XR1-AS1c.716T>A (p.Leu239His)
c.455T>A (p.Leu152His)
c.321T>A
c.746T>A (p.Leu249His)
c.755T>A (p.Leu252His)
n.518-98A>T
3g.177047537G>ACA355552330TBL1XR1,TBL1XR1-AS1c.715C>T (p.Leu239Phe)
c.454C>T (p.Leu152Phe)
c.320C>T
c.745C>T (p.Leu249Phe)
c.754C>T (p.Leu252Phe)
n.518-97G>A
 gnomAD v3 gnomAD v4
3g.177047537G>CCA355552331TBL1XR1,TBL1XR1-AS1c.715C>G (p.Leu239Val)
c.454C>G (p.Leu152Val)
c.320C>G
c.745C>G (p.Leu249Val)
c.754C>G (p.Leu252Val)
n.518-97G>C
3g.177047537G>TCA355552332TBL1XR1,TBL1XR1-AS1c.715C>A (p.Leu239Ile)
c.454C>A (p.Leu152Ile)
c.320C>A
c.745C>A (p.Leu249Ile)
c.754C>A (p.Leu252Ile)
n.518-97G>T
3g.177047538T>ACA2709901TBL1XR1,TBL1XR1-AS1c.714A>T (p.Thr238=)
c.453A>T (p.Thr151=)
c.319A>T
c.744A>T (p.Thr248=)
c.753A>T (p.Thr251=)
n.518-96T>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.177047538T>CCA2709902TBL1XR1,TBL1XR1-AS1c.714A>G (p.Thr238=)
c.453A>G (p.Thr151=)
c.319A>G
c.744A>G (p.Thr248=)
c.753A>G (p.Thr251=)
n.518-96T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.177047538T>GCA436985754TBL1XR1,TBL1XR1-AS1c.714A>C (p.Thr238=)
c.453A>C (p.Thr151=)
c.319A>C
c.744A>C (p.Thr248=)
c.753A>C (p.Thr251=)
n.518-96T>G
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.177047538T=CA1422667590TBL1XR1,TBL1XR1-AS1c.714A= (p.Thr238=)
c.453A= (p.Thr151=)
c.319A=
c.744A= (p.Thr248=)
c.753A= (p.Thr251=)
n.518-96T=
3g.177047539G>ACA355552333TBL1XR1,TBL1XR1-AS1c.713C>T (p.Thr238Ile)
c.452C>T (p.Thr151Ile)
c.318C>T
c.743C>T (p.Thr248Ile)
c.752C>T (p.Thr251Ile)
n.518-95G>A
 gnomAD v4
3g.177047539G>CCA355552334TBL1XR1,TBL1XR1-AS1c.713C>G (p.Thr238Arg)
c.452C>G (p.Thr151Arg)
c.318C>G
c.743C>G (p.Thr248Arg)
c.752C>G (p.Thr251Arg)
n.518-95G>C
3g.177047539G>TCA355552335TBL1XR1,TBL1XR1-AS1c.713C>A (p.Thr238Lys)
c.452C>A (p.Thr151Lys)
c.318C>A
c.743C>A (p.Thr248Lys)
c.752C>A (p.Thr251Lys)
n.518-95G>T
3g.177047540T>ACA355552337TBL1XR1,TBL1XR1-AS1c.712A>T (p.Thr238Ser)
c.451A>T (p.Thr151Ser)
c.317A>T
c.742A>T (p.Thr248Ser)
c.751A>T (p.Thr251Ser)
n.518-94T>A
3g.177047540T>CCA355552338TBL1XR1,TBL1XR1-AS1c.712A>G (p.Thr238Ala)
c.451A>G (p.Thr151Ala)
c.317A>G
c.742A>G (p.Thr248Ala)
c.751A>G (p.Thr251Ala)
n.518-94T>C
 ClinVar dbSNP gnomAD v3 gnomAD v4
3g.177047540T>GCA355552336TBL1XR1,TBL1XR1-AS1c.712A>C (p.Thr238Pro)
c.451A>C (p.Thr151Pro)
c.317A>C
c.742A>C (p.Thr248Pro)
c.751A>C (p.Thr251Pro)
n.518-94T>G
 ClinVar dbSNP
3g.177047540T=CA1422667591TBL1XR1,TBL1XR1-AS1c.712A= (p.Thr238=)
c.451A= (p.Thr151=)
c.317A=
c.742A= (p.Thr248=)
c.751A= (p.Thr251=)
n.518-94T=
3g.177047541A>CCA436985755TBL1XR1,TBL1XR1-AS1c.711T>G (p.Gly237=)
c.450T>G (p.Gly150=)
c.316T>G
c.741T>G (p.Gly247=)
c.750T>G (p.Gly250=)
n.518-93A>C
3g.177047541A>GCA436985756TBL1XR1,TBL1XR1-AS1c.711T>C (p.Gly237=)
c.450T>C (p.Gly150=)
c.316T>C
c.741T>C (p.Gly247=)
c.750T>C (p.Gly250=)
n.518-93A>G
 COSMIC
3g.177047541A>TCA436985757TBL1XR1,TBL1XR1-AS1c.711T>A (p.Gly237=)
c.450T>A (p.Gly150=)
c.316T>A
c.741T>A (p.Gly247=)
c.750T>A (p.Gly250=)
n.518-93A>T
3g.177047542C>ACA355552339TBL1XR1,TBL1XR1-AS1c.710G>T (p.Gly237Val)
c.449G>T (p.Gly150Val)
c.315G>T
c.740G>T (p.Gly247Val)
c.749G>T (p.Gly250Val)
n.518-92C>A
3g.177047542C=CA1422667592TBL1XR1,TBL1XR1-AS1c.710G= (p.Gly237=)
c.449G= (p.Gly150=)
c.315G=
c.740G= (p.Gly247=)
c.749G= (p.Gly250=)
n.518-92C=
3g.177047542C>GCA355552340TBL1XR1,TBL1XR1-AS1c.710G>C (p.Gly237Ala)
c.449G>C (p.Gly150Ala)
c.315G>C
c.740G>C (p.Gly247Ala)
c.749G>C (p.Gly250Ala)
n.518-92C>G
3g.177047542C>TCA355552341TBL1XR1,TBL1XR1-AS1c.710G>A (p.Gly237Asp)
c.449G>A (p.Gly150Asp)
c.315G>A
c.740G>A (p.Gly247Asp)
c.749G>A (p.Gly250Asp)
n.518-92C>T
 ClinVar dbSNP
3g.177047543C>ACA355552342TBL1XR1,TBL1XR1-AS1c.709G>T (p.Gly237Cys)
c.448G>T (p.Gly150Cys)
c.314G>T
c.739G>T (p.Gly247Cys)
c.748G>T (p.Gly250Cys)
n.518-91C>A
3g.177047543C>GCA355552343TBL1XR1,TBL1XR1-AS1c.709G>C (p.Gly237Arg)
c.448G>C (p.Gly150Arg)
c.314G>C
c.739G>C (p.Gly247Arg)
c.748G>C (p.Gly250Arg)
n.518-91C>G
3g.177047543C>TCA355552344TBL1XR1,TBL1XR1-AS1c.709G>A (p.Gly237Ser)
c.448G>A (p.Gly150Ser)
c.314G>A
c.739G>A (p.Gly247Ser)
c.748G>A (p.Gly250Ser)
n.518-91C>T
3g.177047544T>ACA355552345TBL1XR1,TBL1XR1-AS1c.708A>T (p.Glu236Asp)
c.447A>T (p.Glu149Asp)
c.313A>T
c.738A>T (p.Glu246Asp)
c.747A>T (p.Glu249Asp)
n.518-90T>A
3g.177047544T>CCA436985758TBL1XR1,TBL1XR1-AS1c.708A>G (p.Glu236=)
c.447A>G (p.Glu149=)
c.313A>G
c.738A>G (p.Glu246=)
c.747A>G (p.Glu249=)
n.518-90T>C
 gnomAD v4
3g.177047544T>GCA355552346TBL1XR1,TBL1XR1-AS1c.708A>C (p.Glu236Asp)
c.447A>C (p.Glu149Asp)
c.313A>C
c.738A>C (p.Glu246Asp)
c.747A>C (p.Glu249Asp)
n.518-90T>G
3g.177047545T>ACA355552347TBL1XR1,TBL1XR1-AS1c.707A>T (p.Glu236Val)
c.446A>T (p.Glu149Val)
c.312A>T
c.737A>T (p.Glu246Val)
c.746A>T (p.Glu249Val)
n.518-89T>A
3g.177047545T>CCA355552348TBL1XR1,TBL1XR1-AS1c.707A>G (p.Glu236Gly)
c.446A>G (p.Glu149Gly)
c.312A>G
c.737A>G (p.Glu246Gly)
c.746A>G (p.Glu249Gly)
n.518-89T>C
3g.177047545T>GCA355552349TBL1XR1,TBL1XR1-AS1c.707A>C (p.Glu236Ala)
c.446A>C (p.Glu149Ala)
c.312A>C
c.737A>C (p.Glu246Ala)
c.746A>C (p.Glu249Ala)
n.518-89T>G
3g.177047546C>ACA355552350TBL1XR1,TBL1XR1-AS1c.706G>T (p.Glu236Ter)
c.445G>T (p.Glu149Ter)
c.311G>T
c.736G>T (p.Glu246Ter)
c.745G>T (p.Glu249Ter)
n.518-88C>A
3g.177047546C>GCA355552351TBL1XR1,TBL1XR1-AS1c.706G>C (p.Glu236Gln)
c.445G>C (p.Glu149Gln)
c.311G>C
c.736G>C (p.Glu246Gln)
c.745G>C (p.Glu249Gln)
n.518-88C>G
3g.177047546C>TCA355552352TBL1XR1,TBL1XR1-AS1c.706G>A (p.Glu236Lys)
c.445G>A (p.Glu149Lys)
c.311G>A
c.736G>A (p.Glu246Lys)
c.745G>A (p.Glu249Lys)
n.518-88C>T
3g.177047547A>CCA355552354TBL1XR1,TBL1XR1-AS1c.705T>G (p.Ser235Arg)
c.444T>G (p.Ser148Arg)
c.310T>G
c.735T>G (p.Ser245Arg)
c.744T>G (p.Ser248Arg)
n.518-87A>C
3g.177047547A>GCA436985759TBL1XR1,TBL1XR1-AS1c.705T>C (p.Ser235=)
c.444T>C (p.Ser148=)
c.310T>C
c.735T>C (p.Ser245=)
c.744T>C (p.Ser248=)
n.518-87A>G
3g.177047547A>TCA355552353TBL1XR1,TBL1XR1-AS1c.705T>A (p.Ser235Arg)
c.444T>A (p.Ser148Arg)
c.310T>A
c.735T>A (p.Ser245Arg)
c.744T>A (p.Ser248Arg)
n.518-87A>T
3g.177047548C>ACA355552355TBL1XR1,TBL1XR1-AS1c.704G>T (p.Ser235Ile)
c.443G>T (p.Ser148Ile)
c.309G>T
c.734G>T (p.Ser245Ile)
c.743G>T (p.Ser248Ile)
n.518-86C>A
3g.177047548C>GCA355552357TBL1XR1,TBL1XR1-AS1c.704G>C (p.Ser235Thr)
c.443G>C (p.Ser148Thr)
c.309G>C
c.734G>C (p.Ser245Thr)
c.743G>C (p.Ser248Thr)
n.518-86C>G
3g.177047548C>TCA355552356TBL1XR1,TBL1XR1-AS1c.704G>A (p.Ser235Asn)
c.443G>A (p.Ser148Asn)
c.309G>A
c.734G>A (p.Ser245Asn)
c.743G>A (p.Ser248Asn)
n.518-86C>T
 ClinVar
3g.177047549T>ACA355552358TBL1XR1,TBL1XR1-AS1c.703A>T (p.Ser235Cys)
c.442A>T (p.Ser148Cys)
c.308A>T
c.733A>T (p.Ser245Cys)
c.742A>T (p.Ser248Cys)
n.518-85T>A
3g.177047549T>CCA355552360TBL1XR1,TBL1XR1-AS1c.703A>G (p.Ser235Gly)
c.442A>G (p.Ser148Gly)
c.308A>G
c.733A>G (p.Ser245Gly)
c.742A>G (p.Ser248Gly)
n.518-85T>C
 ClinVar dbSNP gnomAD v2 gnomAD v4
3g.177047549T>GCA355552359TBL1XR1,TBL1XR1-AS1c.703A>C (p.Ser235Arg)
c.442A>C (p.Ser148Arg)
c.308A>C
c.733A>C (p.Ser245Arg)
c.742A>C (p.Ser248Arg)
n.518-85T>G
3g.177047549T=CA1422667593TBL1XR1,TBL1XR1-AS1c.703A= (p.Ser235=)
c.442A= (p.Ser148=)
c.308A=
c.733A= (p.Ser245=)
c.742A= (p.Ser248=)
n.518-85T=
3g.177047550C>ACA355552361TBL1XR1,TBL1XR1-AS1c.703-1G>T (n.703-1G>T)
c.442-1G>T (n.442-1G>T)
c.308-1G>T
c.733-1G>T (n.733-1G>T)
c.742-1G>T (n.742-1G>T)
n.518-84C>A
 gnomAD v4
3g.177047550C>GCA355552363TBL1XR1,TBL1XR1-AS1c.703-1G>C (n.703-1G>C)
c.442-1G>C (n.442-1G>C)
c.308-1G>C
c.733-1G>C (n.733-1G>C)
c.742-1G>C (n.742-1G>C)
n.518-84C>G
3g.177047550C>TCA355552362TBL1XR1,TBL1XR1-AS1c.703-1G>A (n.703-1G>A)
c.442-1G>A (n.442-1G>A)
c.308-1G>A
c.733-1G>A (n.733-1G>A)
c.742-1G>A (n.742-1G>A)
n.518-84C>T
3g.177047551T>ACA355552364TBL1XR1,TBL1XR1-AS1c.703-2A>T (n.703-2A>T)
c.442-2A>T (n.442-2A>T)
c.308-2A>T
c.733-2A>T (n.733-2A>T)
c.742-2A>T (n.742-2A>T)
n.518-83T>A
3g.177047551T>CCA355552365TBL1XR1,TBL1XR1-AS1c.703-2A>G (n.703-2A>G)
c.442-2A>G (n.442-2A>G)
c.308-2A>G
c.733-2A>G (n.733-2A>G)
c.742-2A>G (n.742-2A>G)
n.518-83T>C
 ClinVar dbSNP
3g.177047551T>GCA355552366TBL1XR1,TBL1XR1-AS1c.703-2A>C (n.703-2A>C)
c.442-2A>C (n.442-2A>C)
c.308-2A>C
c.733-2A>C (n.733-2A>C)
c.742-2A>C (n.742-2A>C)
n.518-83T>G
3g.177047551T=CA1422667594TBL1XR1,TBL1XR1-AS1c.703-2A= (n.703-2A=)
c.442-2A= (n.442-2A=)
c.308-2A=
c.733-2A= (n.733-2A=)
c.742-2A= (n.742-2A=)
n.518-83T=
3g.177047552G>TCA2668596755TBL1XR1,TBL1XR1-AS1c.703-3C>A (n.703-3C>A)
c.442-3C>A (n.442-3C>A)
c.308-3C>A
c.733-3C>A (n.733-3C>A)
c.742-3C>A (n.742-3C>A)
n.518-82G>T
 gnomAD v4
3g.177047553C=CA1422667595TBL1XR1,TBL1XR1-AS1c.703-4G= (n.703-4G=)
c.442-4G= (n.442-4G=)
c.308-4G=
c.733-4G= (n.733-4G=)
c.742-4G= (n.742-4G=)
n.518-81C=
3g.177047553C>TCA89088941TBL1XR1,TBL1XR1-AS1c.703-4G>A (n.703-4G>A)
c.442-4G>A (n.442-4G>A)
c.308-4G>A
c.733-4G>A (n.733-4G>A)
c.742-4G>A (n.742-4G>A)
n.518-81C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
3g.177047554C>TCA2577962590TBL1XR1,TBL1XR1-AS1c.703-5G>A (n.703-5G>A)
c.442-5G>A (n.442-5G>A)
c.308-5G>A
c.733-5G>A (n.733-5G>A)
c.742-5G>A (n.742-5G>A)
n.518-80C>T
3g.177047555A>GCA2577962591TBL1XR1,TBL1XR1-AS1c.703-6T>C (n.703-6T>C)
c.442-6T>C (n.442-6T>C)
c.308-6T>C
c.733-6T>C (n.733-6T>C)
c.742-6T>C (n.742-6T>C)
n.518-79A>G
3g.177047555_177047556insATCTAGAGATGTGACATCCTTGTTGCTTGGAACATCTTCA2668596756TBL1XR1,TBL1XR1-AS1c.703-7_703-6insAAGATGTTCCAAGCAACAAGGATGTCACATCTCTAGAT (n.703-7_703-6insAAGATGTTCCAAGCAACAAGGATGTCACATCTCTAGAT)
c.442-7_442-6insAAGATGTTCCAAGCAACAAGGATGTCACATCTCTAGAT (n.442-7_442-6insAAGATGTTCCAAGCAACAAGGATGTCACATCTCTAGAT)
c.308-7_308-6insAAGATGTTCCAAGCAACAAGGATGTCACATCTCTAGAT
c.733-7_733-6insAAGATGTTCCAAGCAACAAGGATGTCACATCTCTAGAT (n.733-7_733-6insAAGATGTTCCAAGCAACAAGGATGTCACATCTCTAGAT)
c.742-7_742-6insAAGATGTTCCAAGCAACAAGGATGTCACATCTCTAGAT (n.742-7_742-6insAAGATGTTCCAAGCAACAAGGATGTCACATCTCTAGAT)
n.518-79_518-78insATCTAGAGATGTGACATCCTTGTTGCTTGGAACATCTT
 gnomAD v4
3g.177047556G>ACA2668596757TBL1XR1,TBL1XR1-AS1c.703-7C>T (n.703-7C>T)
c.442-7C>T (n.442-7C>T)
c.308-7C>T
c.733-7C>T (n.733-7C>T)
c.742-7C>T (n.742-7C>T)
n.518-78G>A
 gnomAD v4
3g.177047556G>CCA2709903TBL1XR1,TBL1XR1-AS1c.703-7C>G (n.703-7C>G)
c.442-7C>G (n.442-7C>G)
c.308-7C>G
c.733-7C>G (n.733-7C>G)
c.742-7C>G (n.742-7C>G)
n.518-78G>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.177047556G=CA1422667596TBL1XR1,TBL1XR1-AS1c.703-7C= (n.703-7C=)
c.442-7C= (n.442-7C=)
c.308-7C=
c.733-7C= (n.733-7C=)
c.742-7C= (n.742-7C=)
n.518-78G=
3g.177047558G>ACA2668596759TBL1XR1,TBL1XR1-AS1c.703-9C>T (n.703-9C>T)
c.442-9C>T (n.442-9C>T)
c.308-9C>T
c.733-9C>T (n.733-9C>T)
c.742-9C>T (n.742-9C>T)
n.518-76G>A
 gnomAD v4
3g.177047558G>TCA2668596758TBL1XR1,TBL1XR1-AS1c.703-9C>A (n.703-9C>A)
c.442-9C>A (n.442-9C>A)
c.308-9C>A
c.733-9C>A (n.733-9C>A)
c.742-9C>A (n.742-9C>A)
n.518-76G>T
 gnomAD v4
3g.177047558_177047559delinsGACA1422667597TBL1XR1,TBL1XR1-AS1c.703-10_703-9delinsTC (n.703-10_703-9delinsTC)
c.442-10_442-9delinsTC (n.442-10_442-9delinsTC)
c.308-10_308-9delinsTC
c.733-10_733-9delinsTC (n.733-10_733-9delinsTC)
c.742-10_742-9delinsTC (n.742-10_742-9delinsTC)
n.518-76_518-75delinsGA
3g.177047559A=CA1422667598TBL1XR1,TBL1XR1-AS1c.703-10T= (n.703-10T=)
c.442-10T= (n.442-10T=)
c.308-10T=
c.733-10T= (n.733-10T=)
c.742-10T= (n.742-10T=)
n.518-75A=
3g.177047559A>GCA2709904TBL1XR1,TBL1XR1-AS1c.703-10T>C (n.703-10T>C)
c.442-10T>C (n.442-10T>C)
c.308-10T>C
c.733-10T>C (n.733-10T>C)
c.742-10T>C (n.742-10T>C)
n.518-75A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.177047563delCA903092477TBL1XR1,TBL1XR1-AS1c.703-10del (n.703-10del)
c.442-10del (n.442-10del)
c.308-10del
c.733-10del (n.733-10del)
c.742-10del (n.742-10del)
n.518-71del
 ClinVar dbSNP
3g.177047560A>GCA2668596760TBL1XR1,TBL1XR1-AS1c.703-11T>C (n.703-11T>C)
c.442-11T>C (n.442-11T>C)
c.308-11T>C
c.733-11T>C (n.733-11T>C)
c.742-11T>C (n.742-11T>C)
n.518-74A>G
 gnomAD v4
3g.177047561A>GCA2668596761TBL1XR1,TBL1XR1-AS1c.703-12T>C (n.703-12T>C)
c.442-12T>C (n.442-12T>C)
c.308-12T>C
c.733-12T>C (n.733-12T>C)
c.742-12T>C (n.742-12T>C)
n.518-73A>G
 gnomAD v4
3g.177047563A=CA1422667599TBL1XR1,TBL1XR1-AS1c.703-14T= (n.703-14T=)
c.442-14T= (n.442-14T=)
c.308-14T=
c.733-14T= (n.733-14T=)
c.742-14T= (n.742-14T=)
n.518-71A=
3g.177047563A>GCA2709905TBL1XR1,TBL1XR1-AS1c.703-14T>C (n.703-14T>C)
c.442-14T>C (n.442-14T>C)
c.308-14T>C
c.733-14T>C (n.733-14T>C)
c.742-14T>C (n.742-14T>C)
n.518-71A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.177047563_177047564delinsACCA1422667600TBL1XR1,TBL1XR1-AS1c.703-15_703-14delinsGT (n.703-15_703-14delinsGT)
c.442-15_442-14delinsGT (n.442-15_442-14delinsGT)
c.308-15_308-14delinsGT
c.733-15_733-14delinsGT (n.733-15_733-14delinsGT)
c.742-15_742-14delinsGT (n.742-15_742-14delinsGT)
n.518-71_518-70delinsAC
3g.177047564delCA903092483TBL1XR1,TBL1XR1-AS1c.703-15del (n.703-15del)
c.442-15del (n.442-15del)
c.308-15del
c.733-15del (n.733-15del)
c.742-15del (n.742-15del)
n.518-70del
 dbSNP
3g.177047564C>ACA1056721026TBL1XR1,TBL1XR1-AS1c.703-15G>T (n.703-15G>T)
c.442-15G>T (n.442-15G>T)
c.308-15G>T
c.733-15G>T (n.733-15G>T)
c.742-15G>T (n.742-15G>T)
n.518-70C>A
 dbSNP gnomAD v3 gnomAD v4
3g.177047564C=CA1422667601TBL1XR1,TBL1XR1-AS1c.703-15G= (n.703-15G=)
c.442-15G= (n.442-15G=)
c.308-15G=
c.733-15G= (n.733-15G=)
c.742-15G= (n.742-15G=)
n.518-70C=
3g.177047564C>TCA2668596765TBL1XR1,TBL1XR1-AS1c.703-15G>A (n.703-15G>A)
c.442-15G>A (n.442-15G>A)
c.308-15G>A
c.733-15G>A (n.733-15G>A)
c.742-15G>A (n.742-15G>A)
n.518-70C>T
 gnomAD v4
3g.177047565A=CA1422667602TBL1XR1,TBL1XR1-AS1c.703-16T= (n.703-16T=)
c.442-16T= (n.442-16T=)
c.308-16T=
c.733-16T= (n.733-16T=)
c.742-16T= (n.742-16T=)
n.518-69A=
3g.177047565A>GCA548334861TBL1XR1,TBL1XR1-AS1c.703-16T>C (n.703-16T>C)
c.442-16T>C (n.442-16T>C)
c.308-16T>C
c.733-16T>C (n.733-16T>C)
c.742-16T>C (n.742-16T>C)
n.518-69A>G
 dbSNP gnomAD v2
3g.177047565_177047569delinsATTTCCA1422667603TBL1XR1,TBL1XR1-AS1c.703-20_703-16delinsGAAAT (n.703-20_703-16delinsGAAAT)
c.442-20_442-16delinsGAAAT (n.442-20_442-16delinsGAAAT)
c.308-20_308-16delinsGAAAT
c.733-20_733-16delinsGAAAT (n.733-20_733-16delinsGAAAT)
c.742-20_742-16delinsGAAAT (n.742-20_742-16delinsGAAAT)
n.518-69_518-65delinsATTTC
3g.177047566T>CCA548334862TBL1XR1,TBL1XR1-AS1c.703-17A>G (n.703-17A>G)
c.442-17A>G (n.442-17A>G)
c.308-17A>G
c.733-17A>G (n.733-17A>G)
c.742-17A>G (n.742-17A>G)
n.518-68T>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.177047566T=CA1422667604TBL1XR1,TBL1XR1-AS1c.703-17A= (n.703-17A=)
c.442-17A= (n.442-17A=)
c.308-17A=
c.733-17A= (n.733-17A=)
c.742-17A= (n.742-17A=)
n.518-68T=
3g.177047569_177047572delCA903092489TBL1XR1,TBL1XR1-AS1c.703-20_703-17del (n.703-20_703-17del)
c.442-20_442-17del (n.442-20_442-17del)
c.308-20_308-17del
c.733-20_733-17del (n.733-20_733-17del)
c.742-20_742-17del (n.742-20_742-17del)
n.518-65_518-62del
 dbSNP gnomAD v3 gnomAD v4
3g.177047567T>GCA2577962592TBL1XR1,TBL1XR1-AS1c.703-18A>C (n.703-18A>C)
c.442-18A>C (n.442-18A>C)
c.308-18A>C
c.733-18A>C (n.733-18A>C)
c.742-18A>C (n.742-18A>C)
n.518-67T>G
 dbSNP
3g.177047568T>CCA2668596767TBL1XR1,TBL1XR1-AS1c.703-19A>G (n.703-19A>G)
c.442-19A>G (n.442-19A>G)
c.308-19A>G
c.733-19A>G (n.733-19A>G)
c.742-19A>G (n.742-19A>G)
n.518-66T>C
 gnomAD v4
3g.177047569C>ACA2709906TBL1XR1,TBL1XR1-AS1c.703-20G>T (n.703-20G>T)
c.442-20G>T (n.442-20G>T)
c.308-20G>T
c.733-20G>T (n.733-20G>T)
c.742-20G>T (n.742-20G>T)
n.518-65C>A
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.177047569C=CA1422667605TBL1XR1,TBL1XR1-AS1c.703-20G= (n.703-20G=)
c.442-20G= (n.442-20G=)
c.308-20G=
c.733-20G= (n.733-20G=)
c.742-20G= (n.742-20G=)
n.518-65C=
3g.177047571T>CCA2709907TBL1XR1,TBL1XR1-AS1c.703-22A>G (n.703-22A>G)
c.442-22A>G (n.442-22A>G)
c.308-22A>G
c.733-22A>G (n.733-22A>G)
c.742-22A>G (n.742-22A>G)
n.518-63T>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.177047571T=CA1422667606TBL1XR1,TBL1XR1-AS1c.703-22A= (n.703-22A=)
c.442-22A= (n.442-22A=)
c.308-22A=
c.733-22A= (n.733-22A=)
c.742-22A= (n.742-22A=)
n.518-63T=
3g.177047572T>ACA2577962593TBL1XR1,TBL1XR1-AS1c.703-23A>T (n.703-23A>T)
c.442-23A>T (n.442-23A>T)
c.308-23A>T
c.733-23A>T (n.733-23A>T)
c.742-23A>T (n.742-23A>T)
n.518-62T>A
3g.177047575T>CCA2668596768TBL1XR1,TBL1XR1-AS1c.703-26A>G (n.703-26A>G)
c.442-26A>G (n.442-26A>G)
c.308-26A>G
c.733-26A>G (n.733-26A>G)
c.742-26A>G (n.742-26A>G)
n.518-59T>C
 gnomAD v4
3g.177047577A=CA1422667607TBL1XR1,TBL1XR1-AS1c.703-28T= (n.703-28T=)
c.442-28T= (n.442-28T=)
c.308-28T=
c.733-28T= (n.733-28T=)
c.742-28T= (n.742-28T=)
n.518-57A=
3g.177047577A>GCA548334863TBL1XR1,TBL1XR1-AS1c.703-28T>C (n.703-28T>C)
c.442-28T>C (n.442-28T>C)
c.308-28T>C
c.733-28T>C (n.733-28T>C)
c.742-28T>C (n.742-28T>C)
n.518-57A>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.177047578T>CCA2709908TBL1XR1,TBL1XR1-AS1c.703-29A>G (n.703-29A>G)
c.442-29A>G (n.442-29A>G)
c.308-29A>G
c.733-29A>G (n.733-29A>G)
c.742-29A>G (n.742-29A>G)
n.518-56T>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.177047578T=CA1422667608TBL1XR1,TBL1XR1-AS1c.703-29A= (n.703-29A=)
c.442-29A= (n.442-29A=)
c.308-29A=
c.733-29A= (n.733-29A=)
c.742-29A= (n.742-29A=)
n.518-56T=
3g.177047579A>GCA2668596769TBL1XR1,TBL1XR1-AS1c.703-30T>C (n.703-30T>C)
c.442-30T>C (n.442-30T>C)
c.308-30T>C
c.733-30T>C (n.733-30T>C)
c.742-30T>C (n.742-30T>C)
n.518-55A>G
 gnomAD v4
3g.177047580T>CCA903092505TBL1XR1,TBL1XR1-AS1c.703-31A>G (n.703-31A>G)
c.442-31A>G (n.442-31A>G)
c.308-31A>G
c.733-31A>G (n.733-31A>G)
c.742-31A>G (n.742-31A>G)
n.518-54T>C
 dbSNP gnomAD v3 gnomAD v4
3g.177047580T=CA1422667609TBL1XR1,TBL1XR1-AS1c.703-31A= (n.703-31A=)
c.442-31A= (n.442-31A=)
c.308-31A=
c.733-31A= (n.733-31A=)
c.742-31A= (n.742-31A=)
n.518-54T=
3g.177047582A=CA1422667610TBL1XR1,TBL1XR1-AS1c.703-33T= (n.703-33T=)
c.442-33T= (n.442-33T=)
c.308-33T=
c.733-33T= (n.733-33T=)
c.742-33T= (n.742-33T=)
n.518-52A=
3g.177047582A>CCA903092506TBL1XR1,TBL1XR1-AS1c.703-33T>G (n.703-33T>G)
c.442-33T>G (n.442-33T>G)
c.308-33T>G
c.733-33T>G (n.733-33T>G)
c.742-33T>G (n.742-33T>G)
n.518-52A>C
 dbSNP gnomAD v3 gnomAD v4
3g.177047583T>CCA89088942TBL1XR1,TBL1XR1-AS1c.703-34A>G (n.703-34A>G)
c.442-34A>G (n.442-34A>G)
c.308-34A>G
c.733-34A>G (n.733-34A>G)
c.742-34A>G (n.742-34A>G)
n.518-51T>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.177047583T=CA1422667611TBL1XR1,TBL1XR1-AS1c.703-34A= (n.703-34A=)
c.442-34A= (n.442-34A=)
c.308-34A=
c.733-34A= (n.733-34A=)
c.742-34A= (n.742-34A=)
n.518-51T=
3g.177047585T>CCA1056721046TBL1XR1,TBL1XR1-AS1c.703-36A>G (n.703-36A>G)
c.442-36A>G (n.442-36A>G)
c.308-36A>G
c.733-36A>G (n.733-36A>G)
c.742-36A>G (n.742-36A>G)
n.518-49T>C
 dbSNP gnomAD v3 gnomAD v4
3g.177047585T=CA1422667612TBL1XR1,TBL1XR1-AS1c.703-36A= (n.703-36A=)
c.442-36A= (n.442-36A=)
c.308-36A=
c.733-36A= (n.733-36A=)
c.742-36A= (n.742-36A=)
n.518-49T=
3g.177047586A>CCA2668596774TBL1XR1,TBL1XR1-AS1c.703-37T>G (n.703-37T>G)
c.442-37T>G (n.442-37T>G)
c.308-37T>G
c.733-37T>G (n.733-37T>G)
c.742-37T>G (n.742-37T>G)
n.518-48A>C
 gnomAD v4
3g.177047587G>TCA2668596775TBL1XR1,TBL1XR1-AS1c.703-38C>A (n.703-38C>A)
c.442-38C>A (n.442-38C>A)
c.308-38C>A
c.733-38C>A (n.733-38C>A)
c.742-38C>A (n.742-38C>A)
n.518-47G>T
 gnomAD v4
3g.177047589T>CCA2668596776TBL1XR1,TBL1XR1-AS1c.703-40A>G (n.703-40A>G)
c.442-40A>G (n.442-40A>G)
c.308-40A>G
c.733-40A>G (n.733-40A>G)
c.742-40A>G (n.742-40A>G)
n.518-45T>C
 gnomAD v4
3g.177047590A>GCA2577962594TBL1XR1,TBL1XR1-AS1c.703-41T>C (n.703-41T>C)
c.442-41T>C (n.442-41T>C)
c.308-41T>C
c.733-41T>C (n.733-41T>C)
c.742-41T>C (n.742-41T>C)
n.518-44A>G
3g.177047591C>ACA89088943TBL1XR1,TBL1XR1-AS1c.703-42G>T (n.703-42G>T)
c.442-42G>T (n.442-42G>T)
c.308-42G>T
c.733-42G>T (n.733-42G>T)
c.742-42G>T (n.742-42G>T)
n.518-43C>A
 dbSNP gnomAD v2 gnomAD v4
3g.177047591C=CA1422667613TBL1XR1,TBL1XR1-AS1c.703-42G= (n.703-42G=)
c.442-42G= (n.442-42G=)
c.308-42G=
c.733-42G= (n.733-42G=)
c.742-42G= (n.742-42G=)
n.518-43C=
3g.177047591C>GCA1422667614TBL1XR1,TBL1XR1-AS1c.703-42G>C (n.703-42G>C)
c.442-42G>C (n.442-42G>C)
c.308-42G>C
c.733-42G>C (n.733-42G>C)
c.742-42G>C (n.742-42G>C)
n.518-43C>G
 dbSNP
3g.177047591C>TCA2709909TBL1XR1,TBL1XR1-AS1c.703-42G>A (n.703-42G>A)
c.442-42G>A (n.442-42G>A)
c.308-42G>A
c.733-42G>A (n.733-42G>A)
c.742-42G>A (n.742-42G>A)
n.518-43C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.177047592G>ACA2709910TBL1XR1,TBL1XR1-AS1c.703-43C>T (n.703-43C>T)
c.442-43C>T (n.442-43C>T)
c.308-43C>T
c.733-43C>T (n.733-43C>T)
c.742-43C>T (n.742-43C>T)
n.518-42G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.177047592G=CA1422667615TBL1XR1,TBL1XR1-AS1c.703-43C= (n.703-43C=)
c.442-43C= (n.442-43C=)
c.308-43C=
c.733-43C= (n.733-43C=)
c.742-43C= (n.742-43C=)
n.518-42G=
3g.177047592_177047594delinsGGTCA1422667616TBL1XR1,TBL1XR1-AS1c.703-45_703-43delinsACC (n.703-45_703-43delinsACC)
c.442-45_442-43delinsACC (n.442-45_442-43delinsACC)
c.308-45_308-43delinsACC
c.733-45_733-43delinsACC (n.733-45_733-43delinsACC)
c.742-45_742-43delinsACC (n.742-45_742-43delinsACC)
n.518-42_518-40delinsGGT
3g.177047593G>TCA2668596783TBL1XR1,TBL1XR1-AS1c.703-44C>A (n.703-44C>A)
c.442-44C>A (n.442-44C>A)
c.308-44C>A
c.733-44C>A (n.733-44C>A)
c.742-44C>A (n.742-44C>A)
n.518-41G>T
 gnomAD v4
3g.177047593_177047594delCA548334864TBL1XR1,TBL1XR1-AS1c.703-45_703-44del (n.703-45_703-44del)
c.442-45_442-44del (n.442-45_442-44del)
c.308-45_308-44del
c.733-45_733-44del (n.733-45_733-44del)
c.742-45_742-44del (n.742-45_742-44del)
n.518-41_518-40del
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.177047594dupCA2668596785TBL1XR1,TBL1XR1-AS1c.703-45dup (n.703-45dup)
c.442-45dup (n.442-45dup)
c.308-45dup
c.733-45dup (n.733-45dup)
c.742-45dup (n.742-45dup)
n.518-40dup
 gnomAD v4
3g.177047596T>CCA2709911TBL1XR1,TBL1XR1-AS1c.703-47A>G (n.703-47A>G)
c.442-47A>G (n.442-47A>G)
c.308-47A>G
c.733-47A>G (n.733-47A>G)
c.742-47A>G (n.742-47A>G)
n.518-38T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.177047596T=CA1422667617TBL1XR1,TBL1XR1-AS1c.703-47A= (n.703-47A=)
c.442-47A= (n.442-47A=)
c.308-47A=
c.733-47A= (n.733-47A=)
c.742-47A= (n.742-47A=)
n.518-38T=
3g.177047597T>GCA2668596786TBL1XR1,TBL1XR1-AS1c.703-48A>C (n.703-48A>C)
c.442-48A>C (n.442-48A>C)
c.308-48A>C
c.733-48A>C (n.733-48A>C)
c.742-48A>C (n.742-48A>C)
n.518-37T>G
 gnomAD v4
3g.177047598T>GCA89088944TBL1XR1,TBL1XR1-AS1c.703-49A>C (n.703-49A>C)
c.442-49A>C (n.442-49A>C)
c.308-49A>C
c.733-49A>C (n.733-49A>C)
c.742-49A>C (n.742-49A>C)
n.518-36T>G
 dbSNP gnomAD v2 gnomAD v4
3g.177047598T=CA1422667618TBL1XR1,TBL1XR1-AS1c.703-49A= (n.703-49A=)
c.442-49A= (n.442-49A=)
c.308-49A=
c.733-49A= (n.733-49A=)
c.742-49A= (n.742-49A=)
n.518-36T=
3g.177047599A=CA1422667619TBL1XR1,TBL1XR1-AS1c.703-50T= (n.703-50T=)
c.442-50T= (n.442-50T=)
c.308-50T=
c.733-50T= (n.733-50T=)
c.742-50T= (n.742-50T=)
n.518-35A=
3g.177047599A>TCA903092518TBL1XR1,TBL1XR1-AS1c.703-50T>A (n.703-50T>A)
c.442-50T>A (n.442-50T>A)
c.308-50T>A
c.733-50T>A (n.733-50T>A)
c.742-50T>A (n.742-50T>A)
n.518-35A>T
 dbSNP gnomAD v3 gnomAD v4
3g.177047600_177047603delinsATTGCA1422667620TBL1XR1,TBL1XR1-AS1c.703-54_703-51delinsCAAT (n.703-54_703-51delinsCAAT)
c.442-54_442-51delinsCAAT (n.442-54_442-51delinsCAAT)
c.308-54_308-51delinsCAAT
c.733-54_733-51delinsCAAT (n.733-54_733-51delinsCAAT)
c.742-54_742-51delinsCAAT (n.742-54_742-51delinsCAAT)
n.518-34_518-31delinsATTG
3g.177047601T>ACA903092527TBL1XR1,TBL1XR1-AS1c.703-52A>T (n.703-52A>T)
c.442-52A>T (n.442-52A>T)
c.308-52A>T
c.733-52A>T (n.733-52A>T)
c.742-52A>T (n.742-52A>T)
n.518-33T>A
 dbSNP gnomAD v3 gnomAD v4
3g.177047601T>CCA2668596790TBL1XR1,TBL1XR1-AS1c.703-52A>G (n.703-52A>G)
c.442-52A>G (n.442-52A>G)
c.308-52A>G
c.733-52A>G (n.733-52A>G)
c.742-52A>G (n.742-52A>G)
n.518-33T>C
 gnomAD v4
3g.177047601T=CA1422667621TBL1XR1,TBL1XR1-AS1c.703-52A= (n.703-52A=)
c.442-52A= (n.442-52A=)
c.308-52A=
c.733-52A= (n.733-52A=)
c.742-52A= (n.742-52A=)
n.518-33T=
3g.177047606_177047608delCA903092524TBL1XR1,TBL1XR1-AS1c.703-54_703-52del (n.703-54_703-52del)
c.442-54_442-52del (n.442-54_442-52del)
c.308-54_308-52del
c.733-54_733-52del (n.733-54_733-52del)
c.742-54_742-52del (n.742-54_742-52del)
n.518-28_518-26del
 dbSNP gnomAD v3 gnomAD v4
3g.177047602T>CCA1422667623TBL1XR1,TBL1XR1-AS1c.703-53A>G (n.703-53A>G)
c.442-53A>G (n.442-53A>G)
c.308-53A>G
c.733-53A>G (n.733-53A>G)
c.742-53A>G (n.742-53A>G)
n.518-32T>C
 dbSNP
3g.177047602T=CA1422667622TBL1XR1,TBL1XR1-AS1c.703-53A= (n.703-53A=)
c.442-53A= (n.442-53A=)
c.308-53A=
c.733-53A= (n.733-53A=)
c.742-53A= (n.742-53A=)
n.518-32T=
3g.177047603G>ACA903092533TBL1XR1,TBL1XR1-AS1c.703-54C>T (n.703-54C>T)
c.442-54C>T (n.442-54C>T)
c.308-54C>T
c.733-54C>T (n.733-54C>T)
c.742-54C>T (n.742-54C>T)
n.518-31G>A
 dbSNP gnomAD v3 gnomAD v4
3g.177047603G=CA1422667624TBL1XR1,TBL1XR1-AS1c.703-54C= (n.703-54C=)
c.442-54C= (n.442-54C=)
c.308-54C=
c.733-54C= (n.733-54C=)
c.742-54C= (n.742-54C=)
n.518-31G=
3g.177047603G>TCA2668596792TBL1XR1,TBL1XR1-AS1c.703-54C>A (n.703-54C>A)
c.442-54C>A (n.442-54C>A)
c.308-54C>A
c.733-54C>A (n.733-54C>A)
c.742-54C>A (n.742-54C>A)
n.518-31G>T
 gnomAD v4
3g.177047605T>GCA89088945TBL1XR1,TBL1XR1-AS1c.703-56A>C (n.703-56A>C)
c.442-56A>C (n.442-56A>C)
c.308-56A>C
c.733-56A>C (n.733-56A>C)
c.742-56A>C (n.742-56A>C)
n.518-29T>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.177047605T=CA1422667625TBL1XR1,TBL1XR1-AS1c.703-56A= (n.703-56A=)
c.442-56A= (n.442-56A=)
c.308-56A=
c.733-56A= (n.733-56A=)
c.742-56A= (n.742-56A=)
n.518-29T=
3g.177047606G>TCA2668596793TBL1XR1,TBL1XR1-AS1c.703-57C>A (n.703-57C>A)
c.442-57C>A (n.442-57C>A)
c.308-57C>A
c.733-57C>A (n.733-57C>A)
c.742-57C>A (n.742-57C>A)
n.518-28G>T
 gnomAD v4
3g.177047608T=CA1422667626TBL1XR1,TBL1XR1-AS1c.703-59A= (n.703-59A=)
c.442-59A= (n.442-59A=)
c.308-59A=
c.733-59A= (n.733-59A=)
c.742-59A= (n.742-59A=)
n.518-26T=
3g.177047609A=CA1422667627TBL1XR1,TBL1XR1-AS1c.703-60T= (n.703-60T=)
c.442-60T= (n.442-60T=)
c.308-60T=
c.733-60T= (n.733-60T=)
c.742-60T= (n.742-60T=)
n.518-25A=
3g.177047609A>CCA548334865TBL1XR1,TBL1XR1-AS1c.703-60T>G (n.703-60T>G)
c.442-60T>G (n.442-60T>G)
c.308-60T>G
c.733-60T>G (n.733-60T>G)
c.742-60T>G (n.742-60T>G)
n.518-25A>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.177047609A>GCA89088946TBL1XR1,TBL1XR1-AS1c.703-60T>C (n.703-60T>C)
c.442-60T>C (n.442-60T>C)
c.308-60T>C
c.733-60T>C (n.733-60T>C)
c.742-60T>C (n.742-60T>C)
n.518-25A>G
 dbSNP gnomAD v3 gnomAD v4
3g.177047611dupCA903092539TBL1XR1,TBL1XR1-AS1c.703-60dup (n.703-60dup)
c.442-60dup (n.442-60dup)
c.308-60dup
c.733-60dup (n.733-60dup)
c.742-60dup (n.742-60dup)
n.518-23dup
 dbSNP gnomAD v3 gnomAD v4
3g.177047611A>GCA2668596798TBL1XR1,TBL1XR1-AS1c.703-62T>C (n.703-62T>C)
c.442-62T>C (n.442-62T>C)
c.308-62T>C
c.733-62T>C (n.733-62T>C)
c.742-62T>C (n.742-62T>C)
n.518-23A>G
 gnomAD v4
3g.177047613T>ACA2668596799TBL1XR1,TBL1XR1-AS1c.703-64A>T (n.703-64A>T)
c.442-64A>T (n.442-64A>T)
c.308-64A>T
c.733-64A>T (n.733-64A>T)
c.742-64A>T (n.742-64A>T)
n.518-21T>A
 gnomAD v4
3g.177047615T>CCA1422667629TBL1XR1,TBL1XR1-AS1c.703-66A>G (n.703-66A>G)
c.442-66A>G (n.442-66A>G)
c.308-66A>G
c.733-66A>G (n.733-66A>G)
c.742-66A>G (n.742-66A>G)
n.518-19T>C
 dbSNP
3g.177047615T=CA1422667628TBL1XR1,TBL1XR1-AS1c.703-66A= (n.703-66A=)
c.442-66A= (n.442-66A=)
c.308-66A=
c.733-66A= (n.733-66A=)
c.742-66A= (n.742-66A=)
n.518-19T=
3g.177047616T>ACA1422667632TBL1XR1,TBL1XR1-AS1c.703-67A>T (n.703-67A>T)
c.442-67A>T (n.442-67A>T)
c.308-67A>T
c.733-67A>T (n.733-67A>T)
c.742-67A>T (n.742-67A>T)
n.518-18T>A
 dbSNP
3g.177047616T=CA1422667631TBL1XR1,TBL1XR1-AS1c.703-67A= (n.703-67A=)
c.442-67A= (n.442-67A=)
c.308-67A=
c.733-67A= (n.733-67A=)
c.742-67A= (n.742-67A=)
n.518-18T=
3g.177047616_177047619delinsTTCACA1422667630TBL1XR1,TBL1XR1-AS1c.703-70_703-67delinsTGAA (n.703-70_703-67delinsTGAA)
c.442-70_442-67delinsTGAA (n.442-70_442-67delinsTGAA)
c.308-70_308-67delinsTGAA
c.733-70_733-67delinsTGAA (n.733-70_733-67delinsTGAA)
c.742-70_742-67delinsTGAA (n.742-70_742-67delinsTGAA)
n.518-18_518-15delinsTTCA
3g.177047617T>CCA2606573622TBL1XR1,TBL1XR1-AS1c.703-68A>G (n.703-68A>G)
c.442-68A>G (n.442-68A>G)
c.308-68A>G
c.733-68A>G (n.733-68A>G)
c.742-68A>G (n.742-68A>G)
n.518-17T>C
 dbSNP gnomAD v3 gnomAD v4
3g.177047618_177047620delCA355552367TBL1XR1,TBL1XR1-AS1c.703-70_703-68del (n.703-70_703-68del)
c.442-70_442-68del (n.442-70_442-68del)
c.308-70_308-68del
c.733-70_733-68del (n.733-70_733-68del)
c.742-70_742-68del (n.742-70_742-68del)
n.518-16_518-14del
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.177047618C>GCA2668596802TBL1XR1,TBL1XR1-AS1c.703-69G>C (n.703-69G>C)
c.442-69G>C (n.442-69G>C)
c.308-69G>C
c.733-69G>C (n.733-69G>C)
c.742-69G>C (n.742-69G>C)
n.518-16C>G
 gnomAD v4
3g.177047619A>CCA2668596803TBL1XR1,TBL1XR1-AS1c.703-70T>G (n.703-70T>G)
c.442-70T>G (n.442-70T>G)
c.308-70T>G
c.733-70T>G (n.733-70T>G)
c.742-70T>G (n.742-70T>G)
n.518-15A>C
 gnomAD v4
3g.177047620T>CCA2668596805TBL1XR1,TBL1XR1-AS1c.703-71A>G (n.703-71A>G)
c.442-71A>G (n.442-71A>G)
c.308-71A>G
c.733-71A>G (n.733-71A>G)
c.742-71A>G (n.742-71A>G)
n.518-14T>C
 gnomAD v4
3g.177047621G>ACA2668596807TBL1XR1,TBL1XR1-AS1c.703-72C>T (n.703-72C>T)
c.442-72C>T (n.442-72C>T)
c.308-72C>T
c.733-72C>T (n.733-72C>T)
c.742-72C>T (n.742-72C>T)
n.518-13G>A
 gnomAD v4
3g.177047621G>CCA2759515827TBL1XR1,TBL1XR1-AS1c.703-72C>G (n.703-72C>G)
c.442-72C>G (n.442-72C>G)
c.308-72C>G
c.733-72C>G (n.733-72C>G)
c.742-72C>G (n.742-72C>G)
n.518-13G>C
3g.177047621G>TCA2577962595TBL1XR1,TBL1XR1-AS1c.703-72C>A (n.703-72C>A)
c.442-72C>A (n.442-72C>A)
c.308-72C>A
c.733-72C>A (n.733-72C>A)
c.742-72C>A (n.742-72C>A)
n.518-13G>T
 gnomAD v4
3g.177047622T>CCA2577962596TBL1XR1,TBL1XR1-AS1c.703-73A>G (n.703-73A>G)
c.442-73A>G (n.442-73A>G)
c.308-73A>G
c.733-73A>G (n.733-73A>G)
c.742-73A>G (n.742-73A>G)
n.518-12T>C

Number of alleles fetched