Chr Mutation (hg38) CAid Gene Transcript Linkouts
3g.177047377delCA2668596736TBL1XR1,TBL1XR1-AS1c.789del (p.Gln264SerfsTer9)
c.528del (p.Gln177SerfsTer9)
c.394del
c.819del (p.Gln274SerfsTer9)
c.828del (p.Gln277SerfsTer9)
n.518-257del
 gnomAD v4
3g.177047376C>ACA355552156TBL1XR1,TBL1XR1-AS1c.788G>T (p.Gly263Val)
c.527G>T (p.Gly176Val)
c.393G>T
c.818G>T (p.Gly273Val)
c.827G>T (p.Gly276Val)
n.518-258C>A
3g.177047376C>GCA355552158TBL1XR1,TBL1XR1-AS1c.788G>C (p.Gly263Ala)
c.527G>C (p.Gly176Ala)
c.393G>C
c.818G>C (p.Gly273Ala)
c.827G>C (p.Gly276Ala)
n.518-258C>G
3g.177047376C>TCA355552157TBL1XR1,TBL1XR1-AS1c.788G>A (p.Gly263Glu)
c.527G>A (p.Gly176Glu)
c.393G>A
c.818G>A (p.Gly273Glu)
c.827G>A (p.Gly276Glu)
n.518-258C>T
3g.177047377C>ACA355552159TBL1XR1,TBL1XR1-AS1c.787G>T (p.Gly263Trp)
c.526G>T (p.Gly176Trp)
c.392G>T
c.817G>T (p.Gly273Trp)
c.826G>T (p.Gly276Trp)
n.518-257C>A
3g.177047377C>GCA355552160TBL1XR1,TBL1XR1-AS1c.787G>C (p.Gly263Arg)
c.526G>C (p.Gly176Arg)
c.392G>C
c.817G>C (p.Gly273Arg)
c.826G>C (p.Gly276Arg)
n.518-257C>G
3g.177047377C>TCA355552161TBL1XR1,TBL1XR1-AS1c.787G>A (p.Gly263Arg)
c.526G>A (p.Gly176Arg)
c.392G>A
c.817G>A (p.Gly273Arg)
c.826G>A (p.Gly276Arg)
n.518-257C>T
 ClinVar dbSNP
3g.177047378T>ACA355552162TBL1XR1,TBL1XR1-AS1c.786A>T (p.Leu262Phe)
c.525A>T (p.Leu175Phe)
c.391A>T
c.816A>T (p.Leu272Phe)
c.825A>T (p.Leu275Phe)
n.518-256T>A
3g.177047378T>CCA436985703TBL1XR1,TBL1XR1-AS1c.786A>G (p.Leu262=)
c.525A>G (p.Leu175=)
c.391A>G
c.816A>G (p.Leu272=)
c.825A>G (p.Leu275=)
n.518-256T>C
3g.177047378T>GCA355552163TBL1XR1,TBL1XR1-AS1c.786A>C (p.Leu262Phe)
c.525A>C (p.Leu175Phe)
c.391A>C
c.816A>C (p.Leu272Phe)
c.825A>C (p.Leu275Phe)
n.518-256T>G
3g.177047379A>CCA355552166TBL1XR1,TBL1XR1-AS1c.785T>G (p.Leu262Ter)
c.524T>G (p.Leu175Ter)
c.390T>G
c.815T>G (p.Leu272Ter)
c.824T>G (p.Leu275Ter)
n.518-255A>C
3g.177047379A>GCA355552165TBL1XR1,TBL1XR1-AS1c.785T>C (p.Leu262Ser)
c.524T>C (p.Leu175Ser)
c.390T>C
c.815T>C (p.Leu272Ser)
c.824T>C (p.Leu275Ser)
n.518-255A>G
 COSMIC
3g.177047379A>TCA355552164TBL1XR1,TBL1XR1-AS1c.785T>A (p.Leu262Ter)
c.524T>A (p.Leu175Ter)
c.390T>A
c.815T>A (p.Leu272Ter)
c.824T>A (p.Leu275Ter)
n.518-255A>T
3g.177047380A>CCA355552167TBL1XR1,TBL1XR1-AS1c.784T>G (p.Leu262Val)
c.523T>G (p.Leu175Val)
c.389T>G
c.814T>G (p.Leu272Val)
c.823T>G (p.Leu275Val)
n.518-254A>C
3g.177047380A>GCA436985704TBL1XR1,TBL1XR1-AS1c.784T>C (p.Leu262=)
c.523T>C (p.Leu175=)
c.389T>C
c.814T>C (p.Leu272=)
c.823T>C (p.Leu275=)
n.518-254A>G
 gnomAD v4
3g.177047380A>TCA355552168TBL1XR1,TBL1XR1-AS1c.784T>A (p.Leu262Ile)
c.523T>A (p.Leu175Ile)
c.389T>A
c.814T>A (p.Leu272Ile)
c.823T>A (p.Leu275Ile)
n.518-254A>T
 gnomAD v4
3g.177047381G>ACA2709885TBL1XR1,TBL1XR1-AS1c.783C>T (p.Thr261=)
c.522C>T (p.Thr174=)
c.388C>T
c.813C>T (p.Thr271=)
c.822C>T (p.Thr274=)
n.518-253G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.177047381G>CCA436985706TBL1XR1,TBL1XR1-AS1c.783C>G (p.Thr261=)
c.522C>G (p.Thr174=)
c.388C>G
c.813C>G (p.Thr271=)
c.822C>G (p.Thr274=)
n.518-253G>C
 ClinVar
3g.177047381G=CA1422667532TBL1XR1,TBL1XR1-AS1c.783C= (p.Thr261=)
c.522C= (p.Thr174=)
c.388C=
c.813C= (p.Thr271=)
c.822C= (p.Thr274=)
n.518-253G=
3g.177047381G>TCA436985705TBL1XR1,TBL1XR1-AS1c.783C>A (p.Thr261=)
c.522C>A (p.Thr174=)
c.388C>A
c.813C>A (p.Thr271=)
c.822C>A (p.Thr274=)
n.518-253G>T
 gnomAD v4
3g.177047382G>ACA355552169TBL1XR1,TBL1XR1-AS1c.782C>T (p.Thr261Ile)
c.521C>T (p.Thr174Ile)
c.387C>T
c.812C>T (p.Thr271Ile)
c.821C>T (p.Thr274Ile)
n.518-252G>A
3g.177047382G>CCA355552170TBL1XR1,TBL1XR1-AS1c.782C>G (p.Thr261Ser)
c.521C>G (p.Thr174Ser)
c.387C>G
c.812C>G (p.Thr271Ser)
c.821C>G (p.Thr274Ser)
n.518-252G>C
3g.177047382G>TCA355552171TBL1XR1,TBL1XR1-AS1c.782C>A (p.Thr261Asn)
c.521C>A (p.Thr174Asn)
c.387C>A
c.812C>A (p.Thr271Asn)
c.821C>A (p.Thr274Asn)
n.518-252G>T
3g.177047383T>ACA355552172TBL1XR1,TBL1XR1-AS1c.781A>T (p.Thr261Ser)
c.520A>T (p.Thr174Ser)
c.386A>T
c.811A>T (p.Thr271Ser)
c.820A>T (p.Thr274Ser)
n.518-251T>A
3g.177047383T>CCA355552174TBL1XR1,TBL1XR1-AS1c.781A>G (p.Thr261Ala)
c.520A>G (p.Thr174Ala)
c.386A>G
c.811A>G (p.Thr271Ala)
c.820A>G (p.Thr274Ala)
n.518-251T>C
3g.177047383T>GCA355552173TBL1XR1,TBL1XR1-AS1c.781A>C (p.Thr261Pro)
c.520A>C (p.Thr174Pro)
c.386A>C
c.811A>C (p.Thr271Pro)
c.820A>C (p.Thr274Pro)
n.518-251T>G
3g.177047384G>ACA436985707TBL1XR1,TBL1XR1-AS1c.780C>T (p.Ser260=)
c.519C>T (p.Ser173=)
c.385C>T
c.810C>T (p.Ser270=)
c.819C>T (p.Ser273=)
n.518-250G>A
 ClinVar dbSNP gnomAD v2
3g.177047384G>CCA355552175TBL1XR1,TBL1XR1-AS1c.780C>G (p.Ser260Arg)
c.519C>G (p.Ser173Arg)
c.385C>G
c.810C>G (p.Ser270Arg)
c.819C>G (p.Ser273Arg)
n.518-250G>C
3g.177047384G=CA1422667533TBL1XR1,TBL1XR1-AS1c.780C= (p.Ser260=)
c.519C= (p.Ser173=)
c.385C=
c.810C= (p.Ser270=)
c.819C= (p.Ser273=)
n.518-250G=
3g.177047384G>TCA355552176TBL1XR1,TBL1XR1-AS1c.780C>A (p.Ser260Arg)
c.519C>A (p.Ser173Arg)
c.385C>A
c.810C>A (p.Ser270Arg)
c.819C>A (p.Ser273Arg)
n.518-250G>T
 gnomAD v4
3g.177047384_177047388dupCA2697556989TBL1XR1,TBL1XR1-AS1c.776_780dup (p.Thr261LeufsTer4)
c.515_519dup (p.Thr174LeufsTer4)
c.381_385dup
c.806_810dup (p.Thr271LeufsTer4)
c.815_819dup (p.Thr274LeufsTer4)
n.518-250_518-246dup
 ClinVar
3g.177047385C>ACA355552177TBL1XR1,TBL1XR1-AS1c.779G>T (p.Ser260Ile)
c.518G>T (p.Ser173Ile)
c.384G>T
c.809G>T (p.Ser270Ile)
c.818G>T (p.Ser273Ile)
n.518-249C>A
3g.177047385C=CA1422667534TBL1XR1,TBL1XR1-AS1c.779G= (p.Ser260=)
c.518G= (p.Ser173=)
c.384G=
c.809G= (p.Ser270=)
c.818G= (p.Ser273=)
n.518-249C=
3g.177047385C>GCA355552178TBL1XR1,TBL1XR1-AS1c.779G>C (p.Ser260Thr)
c.518G>C (p.Ser173Thr)
c.384G>C
c.809G>C (p.Ser270Thr)
c.818G>C (p.Ser273Thr)
n.518-249C>G
3g.177047385C>TCA2709886TBL1XR1,TBL1XR1-AS1c.779G>A (p.Ser260Asn)
c.518G>A (p.Ser173Asn)
c.384G>A
c.809G>A (p.Ser270Asn)
c.818G>A (p.Ser273Asn)
n.518-249C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.177047386T>ACA355552179TBL1XR1,TBL1XR1-AS1c.778A>T (p.Ser260Cys)
c.517A>T (p.Ser173Cys)
c.383A>T
c.808A>T (p.Ser270Cys)
c.817A>T (p.Ser273Cys)
n.518-248T>A
3g.177047386T>CCA355552180TBL1XR1,TBL1XR1-AS1c.778A>G (p.Ser260Gly)
c.517A>G (p.Ser173Gly)
c.383A>G
c.808A>G (p.Ser270Gly)
c.817A>G (p.Ser273Gly)
n.518-248T>C
3g.177047386T>GCA355552181TBL1XR1,TBL1XR1-AS1c.778A>C (p.Ser260Arg)
c.517A>C (p.Ser173Arg)
c.383A>C
c.808A>C (p.Ser270Arg)
c.817A>C (p.Ser273Arg)
n.518-248T>G
3g.177047387A>CCA436985708TBL1XR1,TBL1XR1-AS1c.777T>G (p.Ala259=)
c.516T>G (p.Ala172=)
c.382T>G
c.807T>G (p.Ala269=)
c.816T>G (p.Ala272=)
n.518-247A>C
3g.177047387A>GCA436985709TBL1XR1,TBL1XR1-AS1c.777T>C (p.Ala259=)
c.516T>C (p.Ala172=)
c.382T>C
c.807T>C (p.Ala269=)
c.816T>C (p.Ala272=)
n.518-247A>G
3g.177047387A>TCA436985710TBL1XR1,TBL1XR1-AS1c.777T>A (p.Ala259=)
c.516T>A (p.Ala172=)
c.382T>A
c.807T>A (p.Ala269=)
c.816T>A (p.Ala272=)
n.518-247A>T
3g.177047388G>ACA355552182TBL1XR1,TBL1XR1-AS1c.776C>T (p.Ala259Val)
c.515C>T (p.Ala172Val)
c.381C>T
c.806C>T (p.Ala269Val)
c.815C>T (p.Ala272Val)
n.518-246G>A
3g.177047388G>CCA355552183TBL1XR1,TBL1XR1-AS1c.776C>G (p.Ala259Gly)
c.515C>G (p.Ala172Gly)
c.381C>G
c.806C>G (p.Ala269Gly)
c.815C>G (p.Ala272Gly)
n.518-246G>C
 gnomAD v4
3g.177047388G>TCA355552184TBL1XR1,TBL1XR1-AS1c.776C>A (p.Ala259Asp)
c.515C>A (p.Ala172Asp)
c.381C>A
c.806C>A (p.Ala269Asp)
c.815C>A (p.Ala272Asp)
n.518-246G>T
3g.177047389C>ACA355552185TBL1XR1,TBL1XR1-AS1c.775G>T (p.Ala259Ser)
c.514G>T (p.Ala172Ser)
c.380G>T
c.805G>T (p.Ala269Ser)
c.814G>T (p.Ala272Ser)
n.518-245C>A
 gnomAD v4
3g.177047389C>GCA355552187TBL1XR1,TBL1XR1-AS1c.775G>C (p.Ala259Pro)
c.514G>C (p.Ala172Pro)
c.380G>C
c.805G>C (p.Ala269Pro)
c.814G>C (p.Ala272Pro)
n.518-245C>G
3g.177047389C>TCA355552186TBL1XR1,TBL1XR1-AS1c.775G>A (p.Ala259Thr)
c.514G>A (p.Ala172Thr)
c.380G>A
c.805G>A (p.Ala269Thr)
c.814G>A (p.Ala272Thr)
n.518-245C>T
3g.177047390A>CCA436985711TBL1XR1,TBL1XR1-AS1c.774T>G (p.Leu258=)
c.513T>G (p.Leu171=)
c.379T>G
c.804T>G (p.Leu268=)
c.813T>G (p.Leu271=)
n.518-244A>C
3g.177047390A>GCA436985712TBL1XR1,TBL1XR1-AS1c.774T>C (p.Leu258=)
c.513T>C (p.Leu171=)
c.379T>C
c.804T>C (p.Leu268=)
c.813T>C (p.Leu271=)
n.518-244A>G
3g.177047390A>TCA436985713TBL1XR1,TBL1XR1-AS1c.774T>A (p.Leu258=)
c.513T>A (p.Leu171=)
c.379T>A
c.804T>A (p.Leu268=)
c.813T>A (p.Leu271=)
n.518-244A>T
3g.177047391A>CCA355552188TBL1XR1,TBL1XR1-AS1c.773T>G (p.Leu258Arg)
c.512T>G (p.Leu171Arg)
c.378T>G
c.803T>G (p.Leu268Arg)
c.812T>G (p.Leu271Arg)
n.518-243A>C
3g.177047391A>GCA355552190TBL1XR1,TBL1XR1-AS1c.773T>C (p.Leu258Pro)
c.512T>C (p.Leu171Pro)
c.378T>C
c.803T>C (p.Leu268Pro)
c.812T>C (p.Leu271Pro)
n.518-243A>G
3g.177047391A>TCA355552189TBL1XR1,TBL1XR1-AS1c.773T>A (p.Leu258His)
c.512T>A (p.Leu171His)
c.378T>A
c.803T>A (p.Leu268His)
c.812T>A (p.Leu271His)
n.518-243A>T
3g.177047392G>ACA355552191TBL1XR1,TBL1XR1-AS1c.772C>T (p.Leu258Phe)
c.511C>T (p.Leu171Phe)
c.377C>T
c.802C>T (p.Leu268Phe)
c.811C>T (p.Leu271Phe)
n.518-242G>A
3g.177047392G>CCA355552192TBL1XR1,TBL1XR1-AS1c.772C>G (p.Leu258Val)
c.511C>G (p.Leu171Val)
c.377C>G
c.802C>G (p.Leu268Val)
c.811C>G (p.Leu271Val)
n.518-242G>C
 ClinVar dbSNP
3g.177047392G>TCA355552193TBL1XR1,TBL1XR1-AS1c.772C>A (p.Leu258Ile)
c.511C>A (p.Leu171Ile)
c.377C>A
c.802C>A (p.Leu268Ile)
c.811C>A (p.Leu271Ile)
n.518-242G>T
3g.177047393G>ACA436985714TBL1XR1,TBL1XR1-AS1c.771C>T (p.Asn257=)
c.510C>T (p.Asn170=)
c.376C>T
c.801C>T (p.Asn267=)
c.810C>T (p.Asn270=)
n.518-241G>A
 gnomAD v4
3g.177047393G>CCA355552194TBL1XR1,TBL1XR1-AS1c.771C>G (p.Asn257Lys)
c.510C>G (p.Asn170Lys)
c.376C>G
c.801C>G (p.Asn267Lys)
c.810C>G (p.Asn270Lys)
n.518-241G>C
 gnomAD v4
3g.177047393G=CA1422667535TBL1XR1,TBL1XR1-AS1c.771C= (p.Asn257=)
c.510C= (p.Asn170=)
c.376C=
c.801C= (p.Asn267=)
c.810C= (p.Asn270=)
n.518-241G=
3g.177047393G>TCA355552195TBL1XR1,TBL1XR1-AS1c.771C>A (p.Asn257Lys)
c.510C>A (p.Asn170Lys)
c.376C>A
c.801C>A (p.Asn267Lys)
c.810C>A (p.Asn270Lys)
n.518-241G>T
 dbSNP gnomAD v3 gnomAD v4
3g.177047394T>ACA355552196TBL1XR1,TBL1XR1-AS1c.770A>T (p.Asn257Ile)
c.509A>T (p.Asn170Ile)
c.375A>T
c.800A>T (p.Asn267Ile)
c.809A>T (p.Asn270Ile)
n.518-240T>A
3g.177047394T>CCA355552197TBL1XR1,TBL1XR1-AS1c.770A>G (p.Asn257Ser)
c.509A>G (p.Asn170Ser)
c.375A>G
c.800A>G (p.Asn267Ser)
c.809A>G (p.Asn270Ser)
n.518-240T>C
3g.177047394T>GCA355552198TBL1XR1,TBL1XR1-AS1c.770A>C (p.Asn257Thr)
c.509A>C (p.Asn170Thr)
c.375A>C
c.800A>C (p.Asn267Thr)
c.809A>C (p.Asn270Thr)
n.518-240T>G
3g.177047399_177047486delCA2668596737TBL1XR1,TBL1XR1-AS1c.766+5_770del
c.505+5_509del
c.371+5_375del
c.796+5_800del
c.805+5_809del
n.518-235_518-148del
 gnomAD v4
3g.177047395T>ACA355552199TBL1XR1,TBL1XR1-AS1c.769A>T (p.Asn257Tyr)
c.508A>T (p.Asn170Tyr)
c.374A>T
c.799A>T (p.Asn267Tyr)
c.808A>T (p.Asn270Tyr)
n.518-239T>A
3g.177047395T>CCA355552200TBL1XR1,TBL1XR1-AS1c.769A>G (p.Asn257Asp)
c.508A>G (p.Asn170Asp)
c.374A>G
c.799A>G (p.Asn267Asp)
c.808A>G (p.Asn270Asp)
n.518-239T>C
3g.177047395T>GCA355552201TBL1XR1,TBL1XR1-AS1c.769A>C (p.Asn257His)
c.508A>C (p.Asn170His)
c.374A>C
c.799A>C (p.Asn267His)
c.808A>C (p.Asn270His)
n.518-239T>G
3g.177047396A>CCA436985715TBL1XR1,TBL1XR1-AS1c.768T>G (p.Gly256=)
c.507T>G (p.Gly169=)
c.373T>G
c.798T>G (p.Gly266=)
c.807T>G (p.Gly269=)
n.518-238A>C
3g.177047396A>GCA436985716TBL1XR1,TBL1XR1-AS1c.768T>C (p.Gly256=)
c.507T>C (p.Gly169=)
c.373T>C
c.798T>C (p.Gly266=)
c.807T>C (p.Gly269=)
n.518-238A>G
3g.177047396A>TCA436985717TBL1XR1,TBL1XR1-AS1c.768T>A (p.Gly256=)
c.507T>A (p.Gly169=)
c.373T>A
c.798T>A (p.Gly266=)
c.807T>A (p.Gly269=)
n.518-238A>T
3g.177047397C>ACA355552204TBL1XR1,TBL1XR1-AS1c.767G>T (p.Gly256Val)
c.506G>T (p.Gly169Val)
c.372G>T
c.797G>T (p.Gly266Val)
c.806G>T (p.Gly269Val)
n.518-237C>A
3g.177047397C>GCA355552203TBL1XR1,TBL1XR1-AS1c.767G>C (p.Gly256Ala)
c.506G>C (p.Gly169Ala)
c.372G>C
c.797G>C (p.Gly266Ala)
c.806G>C (p.Gly269Ala)
n.518-237C>G
3g.177047397C>TCA355552202TBL1XR1,TBL1XR1-AS1c.767G>A (p.Gly256Asp)
c.506G>A (p.Gly169Asp)
c.372G>A
c.797G>A (p.Gly266Asp)
c.806G>A (p.Gly269Asp)
n.518-237C>T
3g.177047398C>ACA355552205TBL1XR1,TBL1XR1-AS1c.767-1G>T (n.767-1G>T)
c.506-1G>T (n.506-1G>T)
c.372-1G>T
c.797-1G>T (n.797-1G>T)
c.806-1G>T (n.806-1G>T)
n.518-236C>A
 gnomAD v4
3g.177047398C>GCA355552206TBL1XR1,TBL1XR1-AS1c.767-1G>C (n.767-1G>C)
c.506-1G>C (n.506-1G>C)
c.372-1G>C
c.797-1G>C (n.797-1G>C)
c.806-1G>C (n.806-1G>C)
n.518-236C>G
3g.177047398C>TCA355552207TBL1XR1,TBL1XR1-AS1c.767-1G>A (n.767-1G>A)
c.506-1G>A (n.506-1G>A)
c.372-1G>A
c.797-1G>A (n.797-1G>A)
c.806-1G>A (n.806-1G>A)
n.518-236C>T
3g.177047399T>ACA355552208TBL1XR1,TBL1XR1-AS1c.767-2A>T (n.767-2A>T)
c.506-2A>T (n.506-2A>T)
c.372-2A>T
c.797-2A>T (n.797-2A>T)
c.806-2A>T (n.806-2A>T)
n.518-235T>A
3g.177047399T>CCA355552209TBL1XR1,TBL1XR1-AS1c.767-2A>G (n.767-2A>G)
c.506-2A>G (n.506-2A>G)
c.372-2A>G
c.797-2A>G (n.797-2A>G)
c.806-2A>G (n.806-2A>G)
n.518-235T>C
3g.177047399T>GCA355552210TBL1XR1,TBL1XR1-AS1c.767-2A>C (n.767-2A>C)
c.506-2A>C (n.506-2A>C)
c.372-2A>C
c.797-2A>C (n.797-2A>C)
c.806-2A>C (n.806-2A>C)
n.518-235T>G
3g.177047401A=CA1422667536TBL1XR1,TBL1XR1-AS1c.767-4T= (n.767-4T=)
c.506-4T= (n.506-4T=)
c.372-4T=
c.797-4T= (n.797-4T=)
c.806-4T= (n.806-4T=)
n.518-233A=
3g.177047401A>CCA1422667537TBL1XR1,TBL1XR1-AS1c.767-4T>G (n.767-4T>G)
c.506-4T>G (n.506-4T>G)
c.372-4T>G
c.797-4T>G (n.797-4T>G)
c.806-4T>G (n.806-4T>G)
n.518-233A>C
 dbSNP
3g.177047403A>GCA2668596738TBL1XR1,TBL1XR1-AS1c.767-6T>C (n.767-6T>C)
c.506-6T>C (n.506-6T>C)
c.372-6T>C
c.797-6T>C (n.797-6T>C)
c.806-6T>C (n.806-6T>C)
n.518-231A>G
 gnomAD v4
3g.177047404T>CCA89088931TBL1XR1,TBL1XR1-AS1c.767-7A>G (n.767-7A>G)
c.506-7A>G (n.506-7A>G)
c.372-7A>G
c.797-7A>G (n.797-7A>G)
c.806-7A>G (n.806-7A>G)
n.518-230T>C
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.177047404T=CA1422667538TBL1XR1,TBL1XR1-AS1c.767-7A= (n.767-7A=)
c.506-7A= (n.506-7A=)
c.372-7A=
c.797-7A= (n.797-7A=)
c.806-7A= (n.806-7A=)
n.518-230T=
3g.177047404_177047405delCA2759515821TBL1XR1,TBL1XR1-AS1c.767-8_767-7del (n.767-8_767-7del)
c.506-8_506-7del (n.506-8_506-7del)
c.372-8_372-7del
c.797-8_797-7del (n.797-8_797-7del)
c.806-8_806-7del (n.806-8_806-7del)
n.518-230_518-229del
3g.177047406C>TCA2580069132TBL1XR1,TBL1XR1-AS1c.767-9G>A (n.767-9G>A)
c.506-9G>A (n.506-9G>A)
c.372-9G>A
c.797-9G>A (n.797-9G>A)
c.806-9G>A (n.806-9G>A)
n.518-228C>T
 ClinVar
3g.177047407A=CA1422667539TBL1XR1,TBL1XR1-AS1c.767-10T= (n.767-10T=)
c.506-10T= (n.506-10T=)
c.372-10T=
c.797-10T= (n.797-10T=)
c.806-10T= (n.806-10T=)
n.518-227A=
3g.177047407A>GCA2709887TBL1XR1,TBL1XR1-AS1c.767-10T>C (n.767-10T>C)
c.506-10T>C (n.506-10T>C)
c.372-10T>C
c.797-10T>C (n.797-10T>C)
c.806-10T>C (n.806-10T>C)
n.518-227A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.177047410A>GCA2668596739TBL1XR1,TBL1XR1-AS1c.767-13T>C (n.767-13T>C)
c.506-13T>C (n.506-13T>C)
c.372-13T>C
c.797-13T>C (n.797-13T>C)
c.806-13T>C (n.806-13T>C)
n.518-224A>G
 gnomAD v4
3g.177047411G>ACA903092282TBL1XR1,TBL1XR1-AS1c.767-14C>T (n.767-14C>T)
c.506-14C>T (n.506-14C>T)
c.372-14C>T
c.797-14C>T (n.797-14C>T)
c.806-14C>T (n.806-14C>T)
n.518-223G>A
 dbSNP gnomAD v3 gnomAD v4
3g.177047411G>CCA2759515822TBL1XR1,TBL1XR1-AS1c.767-14C>G (n.767-14C>G)
c.506-14C>G (n.506-14C>G)
c.372-14C>G
c.797-14C>G (n.797-14C>G)
c.806-14C>G (n.806-14C>G)
n.518-223G>C
3g.177047411G=CA1422667540TBL1XR1,TBL1XR1-AS1c.767-14C= (n.767-14C=)
c.506-14C= (n.506-14C=)
c.372-14C=
c.797-14C= (n.797-14C=)
c.806-14C= (n.806-14C=)
n.518-223G=
3g.177047412A=CA1422667541TBL1XR1,TBL1XR1-AS1c.767-15T= (n.767-15T=)
c.506-15T= (n.506-15T=)
c.372-15T=
c.797-15T= (n.797-15T=)
c.806-15T= (n.806-15T=)
n.518-222A=
3g.177047412A>GCA548242939TBL1XR1,TBL1XR1-AS1c.767-15T>C (n.767-15T>C)
c.506-15T>C (n.506-15T>C)
c.372-15T>C
c.797-15T>C (n.797-15T>C)
c.806-15T>C (n.806-15T>C)
n.518-222A>G
 dbSNP gnomAD v2 gnomAD v4
3g.177047414_177047420delinsAAACATTCA1422667542TBL1XR1,TBL1XR1-AS1c.767-23_767-17delinsAATGTTT (n.767-23_767-17delinsAATGTTT)
c.506-23_506-17delinsAATGTTT (n.506-23_506-17delinsAATGTTT)
c.372-23_372-17delinsAATGTTT
c.797-23_797-17delinsAATGTTT (n.797-23_797-17delinsAATGTTT)
c.806-23_806-17delinsAATGTTT (n.806-23_806-17delinsAATGTTT)
n.518-220_518-214delinsAAACATT
3g.177047415A=CA1422667543TBL1XR1,TBL1XR1-AS1c.767-18T= (n.767-18T=)
c.506-18T= (n.506-18T=)
c.372-18T=
c.797-18T= (n.797-18T=)
c.806-18T= (n.806-18T=)
n.518-219A=
3g.177047415A>GCA903092284TBL1XR1,TBL1XR1-AS1c.767-18T>C (n.767-18T>C)
c.506-18T>C (n.506-18T>C)
c.372-18T>C
c.797-18T>C (n.797-18T>C)
c.806-18T>C (n.806-18T>C)
n.518-219A>G
 dbSNP
3g.177047422_177047427delCA2709888TBL1XR1,TBL1XR1-AS1c.767-23_767-18del (n.767-23_767-18del)
c.506-23_506-18del (n.506-23_506-18del)
c.372-23_372-18del
c.797-23_797-18del (n.797-23_797-18del)
c.806-23_806-18del (n.806-23_806-18del)
n.518-212_518-207del
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.177047415_177047416insCCAAACACACCCAACCA2759515825TBL1XR1,TBL1XR1-AS1c.767-19_767-18insGTTGGGTGTGTTTGG (n.767-19_767-18insGTTGGGTGTGTTTGG)
c.506-19_506-18insGTTGGGTGTGTTTGG (n.506-19_506-18insGTTGGGTGTGTTTGG)
c.372-19_372-18insGTTGGGTGTGTTTGG
c.797-19_797-18insGTTGGGTGTGTTTGG (n.797-19_797-18insGTTGGGTGTGTTTGG)
c.806-19_806-18insGTTGGGTGTGTTTGG (n.806-19_806-18insGTTGGGTGTGTTTGG)
n.518-219_518-218insCCAAACACACCCAAC
3g.177047417_177047418insCAAACACACCCAACACCA2759515823TBL1XR1,TBL1XR1-AS1c.767-19_767-18insGTTGGGTGTGTTTGGT (n.767-19_767-18insGTTGGGTGTGTTTGGT)
c.506-19_506-18insGTTGGGTGTGTTTGGT (n.506-19_506-18insGTTGGGTGTGTTTGGT)
c.372-19_372-18insGTTGGGTGTGTTTGGT
c.797-19_797-18insGTTGGGTGTGTTTGGT (n.797-19_797-18insGTTGGGTGTGTTTGGT)
c.806-19_806-18insGTTGGGTGTGTTTGGT (n.806-19_806-18insGTTGGGTGTGTTTGGT)
n.518-217_518-216insCAAACACACCCAACAC
3g.177047417_177047418insCCAAACACACCCAACACCA2759515824TBL1XR1,TBL1XR1-AS1c.767-19_767-18insGTTGGGTGTGTTTGGGT (n.767-19_767-18insGTTGGGTGTGTTTGGGT)
c.506-19_506-18insGTTGGGTGTGTTTGGGT (n.506-19_506-18insGTTGGGTGTGTTTGGGT)
c.372-19_372-18insGTTGGGTGTGTTTGGGT
c.797-19_797-18insGTTGGGTGTGTTTGGGT (n.797-19_797-18insGTTGGGTGTGTTTGGGT)
c.806-19_806-18insGTTGGGTGTGTTTGGGT (n.806-19_806-18insGTTGGGTGTGTTTGGGT)
n.518-217_518-216insCCAAACACACCCAACAC
3g.177047417C=CA1422667544TBL1XR1,TBL1XR1-AS1c.767-20G= (n.767-20G=)
c.506-20G= (n.506-20G=)
c.372-20G=
c.797-20G= (n.797-20G=)
c.806-20G= (n.806-20G=)
n.518-217C=
3g.177047417C>TCA2709889TBL1XR1,TBL1XR1-AS1c.767-20G>A (n.767-20G>A)
c.506-20G>A (n.506-20G>A)
c.372-20G>A
c.797-20G>A (n.797-20G>A)
c.806-20G>A (n.806-20G>A)
n.518-217C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.177047418A=CA1422667545TBL1XR1,TBL1XR1-AS1c.767-21T= (n.767-21T=)
c.506-21T= (n.506-21T=)
c.372-21T=
c.797-21T= (n.797-21T=)
c.806-21T= (n.806-21T=)
n.518-216A=
3g.177047418A>GCA903092291TBL1XR1,TBL1XR1-AS1c.767-21T>C (n.767-21T>C)
c.506-21T>C (n.506-21T>C)
c.372-21T>C
c.797-21T>C (n.797-21T>C)
c.806-21T>C (n.806-21T>C)
n.518-216A>G
 dbSNP
3g.177047419T>CCA903092298TBL1XR1,TBL1XR1-AS1c.767-22A>G (n.767-22A>G)
c.506-22A>G (n.506-22A>G)
c.372-22A>G
c.797-22A>G (n.797-22A>G)
c.806-22A>G (n.806-22A>G)
n.518-215T>C
 dbSNP gnomAD v4
3g.177047419T>GCA2668596740TBL1XR1,TBL1XR1-AS1c.767-22A>C (n.767-22A>C)
c.506-22A>C (n.506-22A>C)
c.372-22A>C
c.797-22A>C (n.797-22A>C)
c.806-22A>C (n.806-22A>C)
n.518-215T>G
 gnomAD v4
3g.177047419T=CA1422667546TBL1XR1,TBL1XR1-AS1c.767-22A= (n.767-22A=)
c.506-22A= (n.506-22A=)
c.372-22A=
c.797-22A= (n.797-22A=)
c.806-22A= (n.806-22A=)
n.518-215T=
3g.177047420T>CCA903092301TBL1XR1,TBL1XR1-AS1c.767-23A>G (n.767-23A>G)
c.506-23A>G (n.506-23A>G)
c.372-23A>G
c.797-23A>G (n.797-23A>G)
c.806-23A>G (n.806-23A>G)
n.518-214T>C
 dbSNP gnomAD v3 gnomAD v4
3g.177047420T=CA1422667548TBL1XR1,TBL1XR1-AS1c.767-23A= (n.767-23A=)
c.506-23A= (n.506-23A=)
c.372-23A=
c.797-23A= (n.797-23A=)
c.806-23A= (n.806-23A=)
n.518-214T=
3g.177047420_177047423delinsTAACCA1422667547TBL1XR1,TBL1XR1-AS1c.767-26_767-23delinsGTTA (n.767-26_767-23delinsGTTA)
c.506-26_506-23delinsGTTA (n.506-26_506-23delinsGTTA)
c.372-26_372-23delinsGTTA
c.797-26_797-23delinsGTTA (n.797-26_797-23delinsGTTA)
c.806-26_806-23delinsGTTA (n.806-26_806-23delinsGTTA)
n.518-214_518-211delinsTAAC
3g.177047421A=CA1422667549TBL1XR1,TBL1XR1-AS1c.767-24T= (n.767-24T=)
c.506-24T= (n.506-24T=)
c.372-24T=
c.797-24T= (n.797-24T=)
c.806-24T= (n.806-24T=)
n.518-213A=
3g.177047421A>CCA548242940TBL1XR1,TBL1XR1-AS1c.767-24T>G (n.767-24T>G)
c.506-24T>G (n.506-24T>G)
c.372-24T>G
c.797-24T>G (n.797-24T>G)
c.806-24T>G (n.806-24T>G)
n.518-213A>C
 dbSNP gnomAD v2 gnomAD v4
3g.177047422_177047424delCA2709890TBL1XR1,TBL1XR1-AS1c.767-26_767-24del (n.767-26_767-24del)
c.506-26_506-24del (n.506-26_506-24del)
c.372-26_372-24del
c.797-26_797-24del (n.797-26_797-24del)
c.806-26_806-24del (n.806-26_806-24del)
n.518-212_518-210del
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.177047422A=CA1422667550TBL1XR1,TBL1XR1-AS1c.767-25T= (n.767-25T=)
c.506-25T= (n.506-25T=)
c.372-25T=
c.797-25T= (n.797-25T=)
c.806-25T= (n.806-25T=)
n.518-212A=
3g.177047422A>TCA2709891TBL1XR1,TBL1XR1-AS1c.767-25T>A (n.767-25T>A)
c.506-25T>A (n.506-25T>A)
c.372-25T>A
c.797-25T>A (n.797-25T>A)
c.806-25T>A (n.806-25T>A)
n.518-212A>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.177047423C>ACA89088932TBL1XR1,TBL1XR1-AS1c.767-26G>T (n.767-26G>T)
c.506-26G>T (n.506-26G>T)
c.372-26G>T
c.797-26G>T (n.797-26G>T)
c.806-26G>T (n.806-26G>T)
n.518-211C>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.177047423C=CA1422667551TBL1XR1,TBL1XR1-AS1c.767-26G= (n.767-26G=)
c.506-26G= (n.506-26G=)
c.372-26G=
c.797-26G= (n.797-26G=)
c.806-26G= (n.806-26G=)
n.518-211C=
3g.177047424A=CA1422667552TBL1XR1,TBL1XR1-AS1c.767-27T= (n.767-27T=)
c.506-27T= (n.506-27T=)
c.372-27T=
c.797-27T= (n.797-27T=)
c.806-27T= (n.806-27T=)
n.518-210A=
3g.177047424A>GCA548242941TBL1XR1,TBL1XR1-AS1c.767-27T>C (n.767-27T>C)
c.506-27T>C (n.506-27T>C)
c.372-27T>C
c.797-27T>C (n.797-27T>C)
c.806-27T>C (n.806-27T>C)
n.518-210A>G
 dbSNP gnomAD v2 gnomAD v4
3g.177047426T>ACA548242942TBL1XR1,TBL1XR1-AS1c.767-29A>T (n.767-29A>T)
c.506-29A>T (n.506-29A>T)
c.372-29A>T
c.797-29A>T (n.797-29A>T)
c.806-29A>T (n.806-29A>T)
n.518-208T>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.177047426T=CA1422667553TBL1XR1,TBL1XR1-AS1c.767-29A= (n.767-29A=)
c.506-29A= (n.506-29A=)
c.372-29A=
c.797-29A= (n.797-29A=)
c.806-29A= (n.806-29A=)
n.518-208T=
3g.177047429_177047434delinsTTTAAACA1422667554TBL1XR1,TBL1XR1-AS1c.767-37_767-32delinsTTTAAA (n.767-37_767-32delinsTTTAAA)
c.506-37_506-32delinsTTTAAA (n.506-37_506-32delinsTTTAAA)
c.372-37_372-32delinsTTTAAA
c.797-37_797-32delinsTTTAAA (n.797-37_797-32delinsTTTAAA)
c.806-37_806-32delinsTTTAAA (n.806-37_806-32delinsTTTAAA)
n.518-205_518-200delinsTTTAAA
3g.177047432_177047436delCA2709892TBL1XR1,TBL1XR1-AS1c.767-37_767-33del (n.767-37_767-33del)
c.506-37_506-33del (n.506-37_506-33del)
c.372-37_372-33del
c.797-37_797-33del (n.797-37_797-33del)
c.806-37_806-33del (n.806-37_806-33del)
n.518-202_518-198del
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.177047433A=CA1422667555TBL1XR1,TBL1XR1-AS1c.767-36T= (n.767-36T=)
c.506-36T= (n.506-36T=)
c.372-36T=
c.797-36T= (n.797-36T=)
c.806-36T= (n.806-36T=)
n.518-201A=
3g.177047433A>CCA1422667556TBL1XR1,TBL1XR1-AS1c.767-36T>G (n.767-36T>G)
c.506-36T>G (n.506-36T>G)
c.372-36T>G
c.797-36T>G (n.797-36T>G)
c.806-36T>G (n.806-36T>G)
n.518-201A>C
 dbSNP
3g.177047440T>CCA2709893TBL1XR1,TBL1XR1-AS1c.767-43A>G (n.767-43A>G)
c.506-43A>G (n.506-43A>G)
c.372-43A>G
c.797-43A>G (n.797-43A>G)
c.806-43A>G (n.806-43A>G)
n.518-194T>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.177047440T=CA1422667557TBL1XR1,TBL1XR1-AS1c.767-43A= (n.767-43A=)
c.506-43A= (n.506-43A=)
c.372-43A=
c.797-43A= (n.797-43A=)
c.806-43A= (n.806-43A=)
n.518-194T=
3g.177047441A=CA1422667558TBL1XR1,TBL1XR1-AS1c.767-44T= (n.767-44T=)
c.506-44T= (n.506-44T=)
c.372-44T=
c.797-44T= (n.797-44T=)
c.806-44T= (n.806-44T=)
n.518-193A=
3g.177047441A>TCA1422667559TBL1XR1,TBL1XR1-AS1c.767-44T>A (n.767-44T>A)
c.506-44T>A (n.506-44T>A)
c.372-44T>A
c.797-44T>A (n.797-44T>A)
c.806-44T>A (n.806-44T>A)
n.518-193A>T
 dbSNP
3g.177047442T>CCA2668596741TBL1XR1,TBL1XR1-AS1c.767-45A>G (n.767-45A>G)
c.506-45A>G (n.506-45A>G)
c.372-45A>G
c.797-45A>G (n.797-45A>G)
c.806-45A>G (n.806-45A>G)
n.518-192T>C
 gnomAD v4
3g.177047443C>ACA2709894TBL1XR1,TBL1XR1-AS1c.766+43G>T (n.766+43G>T)
c.505+43G>T (n.505+43G>T)
c.371+43G>T
c.796+43G>T (n.796+43G>T)
c.805+43G>T (n.805+43G>T)
n.518-191C>A
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.177047443C=CA1422667560TBL1XR1,TBL1XR1-AS1c.766+43G= (n.766+43G=)
c.505+43G= (n.505+43G=)
c.371+43G=
c.796+43G= (n.796+43G=)
c.805+43G= (n.805+43G=)
n.518-191C=
3g.177047444T>GCA89088933TBL1XR1,TBL1XR1-AS1c.766+42A>C (n.766+42A>C)
c.505+42A>C (n.505+42A>C)
c.371+42A>C
c.796+42A>C (n.796+42A>C)
c.805+42A>C (n.805+42A>C)
n.518-190T>G
 dbSNP
3g.177047444T=CA1422667561TBL1XR1,TBL1XR1-AS1c.766+42A= (n.766+42A=)
c.505+42A= (n.505+42A=)
c.371+42A=
c.796+42A= (n.796+42A=)
c.805+42A= (n.805+42A=)
n.518-190T=
3g.177047445_177047446delCA2704620548TBL1XR1,TBL1XR1-AS1c.766+41_766+42del (n.766+41_766+42del)
c.505+41_505+42del (n.505+41_505+42del)
c.371+41_371+42del
c.796+41_796+42del (n.796+41_796+42del)
c.805+41_805+42del (n.805+41_805+42del)
n.518-189_518-188del
 dbSNP
3g.177047445T>ACA548334856TBL1XR1,TBL1XR1-AS1c.766+41A>T (n.766+41A>T)
c.505+41A>T (n.505+41A>T)
c.371+41A>T
c.796+41A>T (n.796+41A>T)
c.805+41A>T (n.805+41A>T)
n.518-189T>A
 dbSNP gnomAD v2 gnomAD v4
3g.177047445T>GCA1422667563TBL1XR1,TBL1XR1-AS1c.766+41A>C (n.766+41A>C)
c.505+41A>C (n.505+41A>C)
c.371+41A>C
c.796+41A>C (n.796+41A>C)
c.805+41A>C (n.805+41A>C)
n.518-189T>G
 dbSNP
3g.177047445T=CA1422667562TBL1XR1,TBL1XR1-AS1c.766+41A= (n.766+41A=)
c.505+41A= (n.505+41A=)
c.371+41A=
c.796+41A= (n.796+41A=)
c.805+41A= (n.805+41A=)
n.518-189T=
3g.177047446T>CCA2668596742TBL1XR1,TBL1XR1-AS1c.766+40A>G (n.766+40A>G)
c.505+40A>G (n.505+40A>G)
c.371+40A>G
c.796+40A>G (n.796+40A>G)
c.805+40A>G (n.805+40A>G)
n.518-188T>C
 gnomAD v4
3g.177047446T=CA1422667564TBL1XR1,TBL1XR1-AS1c.766+40A= (n.766+40A=)
c.505+40A= (n.505+40A=)
c.371+40A=
c.796+40A= (n.796+40A=)
c.805+40A= (n.805+40A=)
n.518-188T=
3g.177047447dupCA2709895TBL1XR1,TBL1XR1-AS1c.766+39dup (n.766+39dup)
c.505+39dup (n.505+39dup)
c.371+39dup
c.796+39dup (n.796+39dup)
c.805+39dup (n.805+39dup)
n.518-187dup
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.177047448G=CA1422667565TBL1XR1,TBL1XR1-AS1c.766+38C= (n.766+38C=)
c.505+38C= (n.505+38C=)
c.371+38C=
c.796+38C= (n.796+38C=)
c.805+38C= (n.805+38C=)
n.518-186G=
3g.177047448G>TCA89088934TBL1XR1,TBL1XR1-AS1c.766+38C>A (n.766+38C>A)
c.505+38C>A (n.505+38C>A)
c.371+38C>A
c.796+38C>A (n.796+38C>A)
c.805+38C>A (n.805+38C>A)
n.518-186G>T
 dbSNP gnomAD v2 gnomAD v4 COSMIC
3g.177047450T>CCA89088935TBL1XR1,TBL1XR1-AS1c.766+36A>G (n.766+36A>G)
c.505+36A>G (n.505+36A>G)
c.371+36A>G
c.796+36A>G (n.796+36A>G)
c.805+36A>G (n.805+36A>G)
n.518-184T>C
 dbSNP
3g.177047450T=CA1422667566TBL1XR1,TBL1XR1-AS1c.766+36A= (n.766+36A=)
c.505+36A= (n.505+36A=)
c.371+36A=
c.796+36A= (n.796+36A=)
c.805+36A= (n.805+36A=)
n.518-184T=
3g.177047450_177047451insACA2759515826TBL1XR1,TBL1XR1-AS1c.766+35_766+36insT (n.766+35_766+36insT)
c.505+35_505+36insT (n.505+35_505+36insT)
c.371+35_371+36insT
c.796+35_796+36insT (n.796+35_796+36insT)
c.805+35_805+36insT (n.805+35_805+36insT)
n.518-184_518-183insA
3g.177047451C=CA1422667567TBL1XR1,TBL1XR1-AS1c.766+35G= (n.766+35G=)
c.505+35G= (n.505+35G=)
c.371+35G=
c.796+35G= (n.796+35G=)
c.805+35G= (n.805+35G=)
n.518-183C=
3g.177047451C>GCA2709896TBL1XR1,TBL1XR1-AS1c.766+35G>C (n.766+35G>C)
c.505+35G>C (n.505+35G>C)
c.371+35G>C
c.796+35G>C (n.796+35G>C)
c.805+35G>C (n.805+35G>C)
n.518-183C>G
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.177047457_177047459delCA2577962587TBL1XR1,TBL1XR1-AS1c.766+33_766+35del (n.766+33_766+35del)
c.505+33_505+35del (n.505+33_505+35del)
c.371+33_371+35del
c.796+33_796+35del (n.796+33_796+35del)
c.805+33_805+35del (n.805+33_805+35del)
n.518-177_518-175del
3g.177047453A=CA1422667568TBL1XR1,TBL1XR1-AS1c.766+33T= (n.766+33T=)
c.505+33T= (n.505+33T=)
c.371+33T=
c.796+33T= (n.796+33T=)
c.805+33T= (n.805+33T=)
n.518-181A=
3g.177047453A>GCA89088936TBL1XR1,TBL1XR1-AS1c.766+33T>C (n.766+33T>C)
c.505+33T>C (n.505+33T>C)
c.371+33T>C
c.796+33T>C (n.796+33T>C)
c.805+33T>C (n.805+33T>C)
n.518-181A>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.177047453A>TCA2505213181TBL1XR1,TBL1XR1-AS1c.766+33T>A (n.766+33T>A)
c.505+33T>A (n.505+33T>A)
c.371+33T>A
c.796+33T>A (n.796+33T>A)
c.805+33T>A (n.805+33T>A)
n.518-181A>T
3g.177047457C>ACA1422667570TBL1XR1,TBL1XR1-AS1c.766+29G>T (n.766+29G>T)
c.505+29G>T (n.505+29G>T)
c.371+29G>T
c.796+29G>T (n.796+29G>T)
c.805+29G>T (n.805+29G>T)
n.518-177C>A
 dbSNP
3g.177047457C=CA1422667569TBL1XR1,TBL1XR1-AS1c.766+29G= (n.766+29G=)
c.505+29G= (n.505+29G=)
c.371+29G=
c.796+29G= (n.796+29G=)
c.805+29G= (n.805+29G=)
n.518-177C=
3g.177047457C>TCA2577962588TBL1XR1,TBL1XR1-AS1c.766+29G>A (n.766+29G>A)
c.505+29G>A (n.505+29G>A)
c.371+29G>A
c.796+29G>A (n.796+29G>A)
c.805+29G>A (n.805+29G>A)
n.518-177C>T
3g.177047458A=CA1422667571TBL1XR1,TBL1XR1-AS1c.766+28T= (n.766+28T=)
c.505+28T= (n.505+28T=)
c.371+28T=
c.796+28T= (n.796+28T=)
c.805+28T= (n.805+28T=)
n.518-176A=
3g.177047458A>GCA1422667572TBL1XR1,TBL1XR1-AS1c.766+28T>C (n.766+28T>C)
c.505+28T>C (n.505+28T>C)
c.371+28T>C
c.796+28T>C (n.796+28T>C)
c.805+28T>C (n.805+28T>C)
n.518-176A>G
 dbSNP gnomAD v4
3g.177047462_177047468delCA2668596743TBL1XR1,TBL1XR1-AS1c.766+22_766+28del (n.766+22_766+28del)
c.505+22_505+28del (n.505+22_505+28del)
c.371+22_371+28del
c.796+22_796+28del (n.796+22_796+28del)
c.805+22_805+28del (n.805+22_805+28del)
n.518-172_518-166del
 gnomAD v4
3g.177047458_177047459insCTTCA903092332TBL1XR1,TBL1XR1-AS1c.766+27_766+28insAAG (n.766+27_766+28insAAG)
c.505+27_505+28insAAG (n.505+27_505+28insAAG)
c.371+27_371+28insAAG
c.796+27_796+28insAAG (n.796+27_796+28insAAG)
c.805+27_805+28insAAG (n.805+27_805+28insAAG)
n.518-176_518-175insCTT
 dbSNP gnomAD v3 gnomAD v4
3g.177047460A=CA1422667573TBL1XR1,TBL1XR1-AS1c.766+26T= (n.766+26T=)
c.505+26T= (n.505+26T=)
c.371+26T=
c.796+26T= (n.796+26T=)
c.805+26T= (n.805+26T=)
n.518-174A=
3g.177047460A>CCA89088937TBL1XR1,TBL1XR1-AS1c.766+26T>G (n.766+26T>G)
c.505+26T>G (n.505+26T>G)
c.371+26T>G
c.796+26T>G (n.796+26T>G)
c.805+26T>G (n.805+26T>G)
n.518-174A>C
 dbSNP gnomAD v2 gnomAD v4
3g.177047461G>ACA548334857TBL1XR1,TBL1XR1-AS1c.766+25C>T (n.766+25C>T)
c.505+25C>T (n.505+25C>T)
c.371+25C>T
c.796+25C>T (n.796+25C>T)
c.805+25C>T (n.805+25C>T)
n.518-173G>A
 dbSNP gnomAD v2 gnomAD v4
3g.177047461G=CA1422667574TBL1XR1,TBL1XR1-AS1c.766+25C= (n.766+25C=)
c.505+25C= (n.505+25C=)
c.371+25C=
c.796+25C= (n.796+25C=)
c.805+25C= (n.805+25C=)
n.518-173G=
3g.177047462T>ACA2668596744TBL1XR1,TBL1XR1-AS1c.766+24A>T (n.766+24A>T)
c.505+24A>T (n.505+24A>T)
c.371+24A>T
c.796+24A>T (n.796+24A>T)
c.805+24A>T (n.805+24A>T)
n.518-172T>A
 gnomAD v4
3g.177047467delCA2668596745TBL1XR1,TBL1XR1-AS1c.766+23del (n.766+23del)
c.505+23del (n.505+23del)
c.371+23del
c.796+23del (n.796+23del)
c.805+23del (n.805+23del)
n.518-167del
 gnomAD v4
3g.177047465A=CA2709897TBL1XR1,TBL1XR1-AS1c.766+21T= (n.766+21T=)
c.505+21T= (n.505+21T=)
c.371+21T=
c.796+21T= (n.796+21T=)
c.805+21T= (n.805+21T=)
n.518-169A=
3g.177047465A>CCA1422667576TBL1XR1,TBL1XR1-AS1c.766+21T>G (n.766+21T>G)
c.505+21T>G (n.505+21T>G)
c.371+21T>G
c.796+21T>G (n.796+21T>G)
c.805+21T>G (n.805+21T>G)
n.518-169A>C
 dbSNP
3g.177047465A>GCA89088938TBL1XR1,TBL1XR1-AS1c.766+21T>C (n.766+21T>C)
c.505+21T>C (n.505+21T>C)
c.371+21T>C
c.796+21T>C (n.796+21T>C)
c.805+21T>C (n.805+21T>C)
n.518-169A>G
 dbSNP gnomAD v3 gnomAD v4
3g.177047465A>TCA1422667575TBL1XR1,TBL1XR1-AS1c.766+21T>A (n.766+21T>A)
c.505+21T>A (n.505+21T>A)
c.371+21T>A
c.796+21T>A (n.796+21T>A)
c.805+21T>A (n.805+21T>A)
n.518-169A>T
 dbSNP
3g.177047468G>ACA2709898TBL1XR1,TBL1XR1-AS1c.766+18C>T (n.766+18C>T)
c.505+18C>T (n.505+18C>T)
c.371+18C>T
c.796+18C>T (n.796+18C>T)
c.805+18C>T (n.805+18C>T)
n.518-166G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.177047468G=CA1422667577TBL1XR1,TBL1XR1-AS1c.766+18C= (n.766+18C=)
c.505+18C= (n.505+18C=)
c.371+18C=
c.796+18C= (n.796+18C=)
c.805+18C= (n.805+18C=)
n.518-166G=
3g.177047469G>ACA548334858TBL1XR1,TBL1XR1-AS1c.766+17C>T (n.766+17C>T)
c.505+17C>T (n.505+17C>T)
c.371+17C>T
c.796+17C>T (n.796+17C>T)
c.805+17C>T (n.805+17C>T)
n.518-165G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.177047469G=CA1422667578TBL1XR1,TBL1XR1-AS1c.766+17C= (n.766+17C=)
c.505+17C= (n.505+17C=)
c.371+17C=
c.796+17C= (n.796+17C=)
c.805+17C= (n.805+17C=)
n.518-165G=
3g.177047473delCA2557348495TBL1XR1,TBL1XR1-AS1c.766+16del (n.766+16del)
c.505+16del (n.505+16del)
c.371+16del
c.796+16del (n.796+16del)
c.805+16del (n.805+16del)
n.518-161del
3g.177047473A>GCA2580069133TBL1XR1,TBL1XR1-AS1c.766+13T>C (n.766+13T>C)
c.505+13T>C (n.505+13T>C)
c.371+13T>C
c.796+13T>C (n.796+13T>C)
c.805+13T>C (n.805+13T>C)
n.518-161A>G
 ClinVar
3g.177047474T>CCA1422667580TBL1XR1,TBL1XR1-AS1c.766+12A>G (n.766+12A>G)
c.505+12A>G (n.505+12A>G)
c.371+12A>G
c.796+12A>G (n.796+12A>G)
c.805+12A>G (n.805+12A>G)
n.518-160T>C
 dbSNP
3g.177047474T=CA1422667579TBL1XR1,TBL1XR1-AS1c.766+12A= (n.766+12A=)
c.505+12A= (n.505+12A=)
c.371+12A=
c.796+12A= (n.796+12A=)
c.805+12A= (n.805+12A=)
n.518-160T=
3g.177047476C=CA1422667581TBL1XR1,TBL1XR1-AS1c.766+10G= (n.766+10G=)
c.505+10G= (n.505+10G=)
c.371+10G=
c.796+10G= (n.796+10G=)
c.805+10G= (n.805+10G=)
n.518-158C=
3g.177047476C>TCA2709899TBL1XR1,TBL1XR1-AS1c.766+10G>A (n.766+10G>A)
c.505+10G>A (n.505+10G>A)
c.371+10G>A
c.796+10G>A (n.796+10G>A)
c.805+10G>A (n.805+10G>A)
n.518-158C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched