Chr Mutation (hg38) CAid Gene Transcript Linkouts
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.177047485C>ACA355552214TBL1XR1,TBL1XR1-AS1c.766+1G>T (n.766+1G>T)
c.505+1G>T (n.505+1G>T)
c.371+1G>T
c.796+1G>T (n.796+1G>T)
c.805+1G>T (n.805+1G>T)
n.518-149C>A
3g.177047485C>GCA355552215TBL1XR1,TBL1XR1-AS1c.766+1G>C (n.766+1G>C)
c.505+1G>C (n.505+1G>C)
c.371+1G>C
c.796+1G>C (n.796+1G>C)
c.805+1G>C (n.805+1G>C)
n.518-149C>G
3g.177047485C>TCA355552216TBL1XR1,TBL1XR1-AS1c.766+1G>A (n.766+1G>A)
c.505+1G>A (n.505+1G>A)
c.371+1G>A
c.796+1G>A (n.796+1G>A)
c.805+1G>A (n.805+1G>A)
n.518-149C>T
3g.177047486C>ACA355552218TBL1XR1,TBL1XR1-AS1c.766G>T (p.Gly256Cys)
c.505G>T (p.Gly169Cys)
c.371G>T
c.796G>T (p.Gly266Cys)
c.805G>T (p.Gly269Cys)
n.518-148C>A
3g.177047486C>GCA355552219TBL1XR1,TBL1XR1-AS1c.766G>C (p.Gly256Arg)
c.505G>C (p.Gly169Arg)
c.371G>C
c.796G>C (p.Gly266Arg)
c.805G>C (p.Gly269Arg)
n.518-148C>G
3g.177047486C>TCA355552217TBL1XR1,TBL1XR1-AS1c.766G>A (p.Gly256Ser)
c.505G>A (p.Gly169Ser)
c.371G>A
c.796G>A (p.Gly266Ser)
c.805G>A (p.Gly269Ser)
n.518-148C>T
3g.177047487A>CCA355552220TBL1XR1,TBL1XR1-AS1c.765T>G (p.Asp255Glu)
c.504T>G (p.Asp168Glu)
c.370T>G
c.795T>G (p.Asp265Glu)
c.804T>G (p.Asp268Glu)
n.518-147A>C
3g.177047487A>GCA436985718TBL1XR1,TBL1XR1-AS1c.765T>C (p.Asp255=)
c.504T>C (p.Asp168=)
c.370T>C
c.795T>C (p.Asp265=)
c.804T>C (p.Asp268=)
n.518-147A>G
3g.177047487A>TCA355552221TBL1XR1,TBL1XR1-AS1c.765T>A (p.Asp255Glu)
c.504T>A (p.Asp168Glu)
c.370T>A
c.795T>A (p.Asp265Glu)
c.804T>A (p.Asp268Glu)
n.518-147A>T
3g.177047488delCA658779421TBL1XR1,TBL1XR1-AS1c.764del (p.Asp255ValfsTer8)
c.503del (p.Asp168ValfsTer8)
c.369del
c.794del (p.Asp265ValfsTer8)
c.803del (p.Asp268ValfsTer8)
n.518-146del
3g.177047488T>ACA355552222TBL1XR1,TBL1XR1-AS1c.764A>T (p.Asp255Val)
c.503A>T (p.Asp168Val)
c.369A>T
c.794A>T (p.Asp265Val)
c.803A>T (p.Asp268Val)
n.518-146T>A
3g.177047488T>CCA355552223TBL1XR1,TBL1XR1-AS1c.764A>G (p.Asp255Gly)
c.503A>G (p.Asp168Gly)
c.369A>G
c.794A>G (p.Asp265Gly)
c.803A>G (p.Asp268Gly)
n.518-146T>C
 COSMIC
3g.177047488T>GCA355552224TBL1XR1,TBL1XR1-AS1c.764A>C (p.Asp255Ala)
c.503A>C (p.Asp168Ala)
c.369A>C
c.794A>C (p.Asp265Ala)
c.803A>C (p.Asp268Ala)
n.518-146T>G
3g.177047489C>ACA355552227TBL1XR1,TBL1XR1-AS1c.763G>T (p.Asp255Tyr)
c.502G>T (p.Asp168Tyr)
c.368G>T
c.793G>T (p.Asp265Tyr)
c.802G>T (p.Asp268Tyr)
n.518-145C>A
 COSMIC
3g.177047489C>GCA355552225TBL1XR1,TBL1XR1-AS1c.763G>C (p.Asp255His)
c.502G>C (p.Asp168His)
c.368G>C
c.793G>C (p.Asp265His)
c.802G>C (p.Asp268His)
n.518-145C>G
3g.177047489C>TCA355552226TBL1XR1,TBL1XR1-AS1c.763G>A (p.Asp255Asn)
c.502G>A (p.Asp168Asn)
c.368G>A
c.793G>A (p.Asp265Asn)
c.802G>A (p.Asp268Asn)
n.518-145C>T
3g.177047490T>ACA355552228TBL1XR1,TBL1XR1-AS1c.762A>T (p.Lys254Asn)
c.501A>T (p.Lys167Asn)
c.367A>T
c.792A>T (p.Lys264Asn)
c.801A>T (p.Lys267Asn)
n.518-144T>A
3g.177047490T>CCA436985719TBL1XR1,TBL1XR1-AS1c.762A>G (p.Lys254=)
c.501A>G (p.Lys167=)
c.367A>G
c.792A>G (p.Lys264=)
c.801A>G (p.Lys267=)
n.518-144T>C
3g.177047490T>GCA355552229TBL1XR1,TBL1XR1-AS1c.762A>C (p.Lys254Asn)
c.501A>C (p.Lys167Asn)
c.367A>C
c.792A>C (p.Lys264Asn)
c.801A>C (p.Lys267Asn)
n.518-144T>G
3g.177047491T>ACA355552230TBL1XR1,TBL1XR1-AS1c.761A>T (p.Lys254Ile)
c.500A>T (p.Lys167Ile)
c.366A>T
c.791A>T (p.Lys264Ile)
c.800A>T (p.Lys267Ile)
n.518-143T>A
3g.177047491T>CCA355552231TBL1XR1,TBL1XR1-AS1c.761A>G (p.Lys254Arg)
c.500A>G (p.Lys167Arg)
c.366A>G
c.791A>G (p.Lys264Arg)
c.800A>G (p.Lys267Arg)
n.518-143T>C
3g.177047491T>GCA355552232TBL1XR1,TBL1XR1-AS1c.761A>C (p.Lys254Thr)
c.500A>C (p.Lys167Thr)
c.366A>C
c.791A>C (p.Lys264Thr)
c.800A>C (p.Lys267Thr)
n.518-143T>G
3g.177047492T>ACA355552233TBL1XR1,TBL1XR1-AS1c.760A>T (p.Lys254Ter)
c.499A>T (p.Lys167Ter)
c.365A>T
c.790A>T (p.Lys264Ter)
c.799A>T (p.Lys267Ter)
n.518-142T>A
3g.177047492T>CCA355552235TBL1XR1,TBL1XR1-AS1c.760A>G (p.Lys254Glu)
c.499A>G (p.Lys167Glu)
c.365A>G
c.790A>G (p.Lys264Glu)
c.799A>G (p.Lys267Glu)
n.518-142T>C
3g.177047492T>GCA355552234TBL1XR1,TBL1XR1-AS1c.760A>C (p.Lys254Gln)
c.499A>C (p.Lys167Gln)
c.365A>C
c.790A>C (p.Lys264Gln)
c.799A>C (p.Lys267Gln)
n.518-142T>G
3g.177047493A>CCA436985720TBL1XR1,TBL1XR1-AS1c.759T>G (p.Thr253=)
c.498T>G (p.Thr166=)
c.364T>G
c.789T>G (p.Thr263=)
c.798T>G (p.Thr266=)
n.518-141A>C
3g.177047493A>GCA436985721TBL1XR1,TBL1XR1-AS1c.759T>C (p.Thr253=)
c.498T>C (p.Thr166=)
c.364T>C
c.789T>C (p.Thr263=)
c.798T>C (p.Thr266=)
n.518-141A>G
 gnomAD v4
3g.177047493A>TCA436985722TBL1XR1,TBL1XR1-AS1c.759T>A (p.Thr253=)
c.498T>A (p.Thr166=)
c.364T>A
c.789T>A (p.Thr263=)
c.798T>A (p.Thr266=)
n.518-141A>T
3g.177047494G>ACA355552236TBL1XR1,TBL1XR1-AS1c.758C>T (p.Thr253Ile)
c.497C>T (p.Thr166Ile)
c.363C>T
c.788C>T (p.Thr263Ile)
c.797C>T (p.Thr266Ile)
n.518-140G>A
3g.177047494G>CCA355552238TBL1XR1,TBL1XR1-AS1c.758C>G (p.Thr253Ser)
c.497C>G (p.Thr166Ser)
c.363C>G
c.788C>G (p.Thr263Ser)
c.797C>G (p.Thr266Ser)
n.518-140G>C
3g.177047494G>TCA355552237TBL1XR1,TBL1XR1-AS1c.758C>A (p.Thr253Asn)
c.497C>A (p.Thr166Asn)
c.363C>A
c.788C>A (p.Thr263Asn)
c.797C>A (p.Thr266Asn)
n.518-140G>T
 gnomAD v4
3g.177047495T>ACA355552239TBL1XR1,TBL1XR1-AS1c.757A>T (p.Thr253Ser)
c.496A>T (p.Thr166Ser)
c.362A>T
c.787A>T (p.Thr263Ser)
c.796A>T (p.Thr266Ser)
n.518-139T>A
3g.177047495T>CCA355552241TBL1XR1,TBL1XR1-AS1c.757A>G (p.Thr253Ala)
c.496A>G (p.Thr166Ala)
c.362A>G
c.787A>G (p.Thr263Ala)
c.796A>G (p.Thr266Ala)
n.518-139T>C
3g.177047495T>GCA355552240TBL1XR1,TBL1XR1-AS1c.757A>C (p.Thr253Pro)
c.496A>C (p.Thr166Pro)
c.362A>C
c.787A>C (p.Thr263Pro)
c.796A>C (p.Thr266Pro)
n.518-139T>G
3g.177047496C>ACA355552242TBL1XR1,TBL1XR1-AS1c.756G>T (p.Trp252Cys)
c.495G>T (p.Trp165Cys)
c.361G>T
c.786G>T (p.Trp262Cys)
c.795G>T (p.Trp265Cys)
n.518-138C>A
 ClinVar dbSNP
3g.177047496C>GCA355552243TBL1XR1,TBL1XR1-AS1c.756G>C (p.Trp252Cys)
c.495G>C (p.Trp165Cys)
c.361G>C
c.786G>C (p.Trp262Cys)
c.795G>C (p.Trp265Cys)
n.518-138C>G
3g.177047496C>TCA355552244TBL1XR1,TBL1XR1-AS1c.756G>A (p.Trp252Ter)
c.495G>A (p.Trp165Ter)
c.361G>A
c.786G>A (p.Trp262Ter)
c.795G>A (p.Trp265Ter)
n.518-138C>T
3g.177047497C>ACA355552245TBL1XR1,TBL1XR1-AS1c.755G>T (p.Trp252Leu)
c.494G>T (p.Trp165Leu)
c.360G>T
c.785G>T (p.Trp262Leu)
c.794G>T (p.Trp265Leu)
n.518-137C>A
3g.177047497C>GCA355552246TBL1XR1,TBL1XR1-AS1c.755G>C (p.Trp252Ser)
c.494G>C (p.Trp165Ser)
c.360G>C
c.785G>C (p.Trp262Ser)
c.794G>C (p.Trp265Ser)
n.518-137C>G
3g.177047497C>TCA355552247TBL1XR1,TBL1XR1-AS1c.755G>A (p.Trp252Ter)
c.494G>A (p.Trp165Ter)
c.360G>A
c.785G>A (p.Trp262Ter)
c.794G>A (p.Trp265Ter)
n.518-137C>T
3g.177047498A=CA1422667584TBL1XR1,TBL1XR1-AS1c.754T= (p.Trp252=)
c.493T= (p.Trp165=)
c.359T=
c.784T= (p.Trp262=)
c.793T= (p.Trp265=)
n.518-136A=
3g.177047498A>CCA355552248TBL1XR1,TBL1XR1-AS1c.754T>G (p.Trp252Gly)
c.493T>G (p.Trp165Gly)
c.359T>G
c.784T>G (p.Trp262Gly)
c.793T>G (p.Trp265Gly)
n.518-136A>C
3g.177047498A>GCA16617845TBL1XR1,TBL1XR1-AS1c.754T>C (p.Trp252Arg)
c.493T>C (p.Trp165Arg)
c.359T>C
c.784T>C (p.Trp262Arg)
c.793T>C (p.Trp265Arg)
n.518-136A>G
 ClinVar dbSNP
3g.177047498A>TCA355552249TBL1XR1,TBL1XR1-AS1c.754T>A (p.Trp252Arg)
c.493T>A (p.Trp165Arg)
c.359T>A
c.784T>A (p.Trp262Arg)
c.793T>A (p.Trp265Arg)
n.518-136A>T
3g.177047499T>ACA436985723TBL1XR1,TBL1XR1-AS1c.753A>T (p.Ile251=)
c.492A>T (p.Ile164=)
c.358A>T
c.783A>T (p.Ile261=)
c.792A>T (p.Ile264=)
n.518-135T>A
3g.177047499T>CCA355552250TBL1XR1,TBL1XR1-AS1c.753A>G (p.Ile251Met)
c.492A>G (p.Ile164Met)
c.358A>G
c.783A>G (p.Ile261Met)
c.792A>G (p.Ile264Met)
n.518-135T>C
3g.177047499T>GCA436985724TBL1XR1,TBL1XR1-AS1c.753A>C (p.Ile251=)
c.492A>C (p.Ile164=)
c.358A>C
c.783A>C (p.Ile261=)
c.792A>C (p.Ile264=)
n.518-135T>G
3g.177047500A>CCA355552253TBL1XR1,TBL1XR1-AS1c.752T>G (p.Ile251Arg)
c.491T>G (p.Ile164Arg)
c.357T>G
c.782T>G (p.Ile261Arg)
c.791T>G (p.Ile264Arg)
n.518-134A>C
3g.177047500A>GCA355552251TBL1XR1,TBL1XR1-AS1c.752T>C (p.Ile251Thr)
c.491T>C (p.Ile164Thr)
c.357T>C
c.782T>C (p.Ile261Thr)
c.791T>C (p.Ile264Thr)
n.518-134A>G
3g.177047500A>TCA355552252TBL1XR1,TBL1XR1-AS1c.752T>A (p.Ile251Lys)
c.491T>A (p.Ile164Lys)
c.357T>A
c.782T>A (p.Ile261Lys)
c.791T>A (p.Ile264Lys)
n.518-134A>T
3g.177047501T>ACA355552254TBL1XR1,TBL1XR1-AS1c.751A>T (p.Ile251Leu)
c.490A>T (p.Ile164Leu)
c.356A>T
c.781A>T (p.Ile261Leu)
c.790A>T (p.Ile264Leu)
n.518-133T>A
3g.177047501T>CCA355552255TBL1XR1,TBL1XR1-AS1c.751A>G (p.Ile251Val)
c.490A>G (p.Ile164Val)
c.356A>G
c.781A>G (p.Ile261Val)
c.790A>G (p.Ile264Val)
n.518-133T>C
3g.177047501T>GCA355552256TBL1XR1,TBL1XR1-AS1c.751A>C (p.Ile251Leu)
c.490A>C (p.Ile164Leu)
c.356A>C
c.781A>C (p.Ile261Leu)
c.790A>C (p.Ile264Leu)
n.518-133T>G
3g.177047502T>ACA355552257TBL1XR1,TBL1XR1-AS1c.750A>T (p.Arg250Ser)
c.489A>T (p.Arg163Ser)
c.355A>T
c.780A>T (p.Arg260Ser)
c.789A>T (p.Arg263Ser)
n.518-132T>A
3g.177047502T>CCA436985725TBL1XR1,TBL1XR1-AS1c.750A>G (p.Arg250=)
c.489A>G (p.Arg163=)
c.355A>G
c.780A>G (p.Arg260=)
c.789A>G (p.Arg263=)
n.518-132T>C
3g.177047502T>GCA355552258TBL1XR1,TBL1XR1-AS1c.750A>C (p.Arg250Ser)
c.489A>C (p.Arg163Ser)
c.355A>C
c.780A>C (p.Arg260Ser)
c.789A>C (p.Arg263Ser)
n.518-132T>G
3g.177047503C>ACA355552259TBL1XR1,TBL1XR1-AS1c.749G>T (p.Arg250Ile)
c.488G>T (p.Arg163Ile)
c.354G>T
c.779G>T (p.Arg260Ile)
c.788G>T (p.Arg263Ile)
n.518-131C>A
3g.177047503C>GCA355552260TBL1XR1,TBL1XR1-AS1c.749G>C (p.Arg250Thr)
c.488G>C (p.Arg163Thr)
c.354G>C
c.779G>C (p.Arg260Thr)
c.788G>C (p.Arg263Thr)
n.518-131C>G
3g.177047503C>TCA355552261TBL1XR1,TBL1XR1-AS1c.749G>A (p.Arg250Lys)
c.488G>A (p.Arg163Lys)
c.354G>A
c.779G>A (p.Arg260Lys)
c.788G>A (p.Arg263Lys)
n.518-131C>T
3g.177047504T>ACA355552262TBL1XR1,TBL1XR1-AS1c.748A>T (p.Arg250Ter)
c.487A>T (p.Arg163Ter)
c.353A>T
c.778A>T (p.Arg260Ter)
c.787A>T (p.Arg263Ter)
n.518-130T>A
3g.177047504T>CCA355552263TBL1XR1,TBL1XR1-AS1c.748A>G (p.Arg250Gly)
c.487A>G (p.Arg163Gly)
c.353A>G
c.778A>G (p.Arg260Gly)
c.787A>G (p.Arg263Gly)
n.518-130T>C
3g.177047504T>GCA436985726TBL1XR1,TBL1XR1-AS1c.748A>C (p.Arg250=)
c.487A>C (p.Arg163=)
c.353A>C
c.778A>C (p.Arg260=)
c.787A>C (p.Arg263=)
n.518-130T>G
3g.177047505G>ACA436985727TBL1XR1,TBL1XR1-AS1c.747C>T (p.Ala249=)
c.486C>T (p.Ala162=)
c.352C>T
c.777C>T (p.Ala259=)
c.786C>T (p.Ala262=)
n.518-129G>A
3g.177047505G>CCA436985728TBL1XR1,TBL1XR1-AS1c.747C>G (p.Ala249=)
c.486C>G (p.Ala162=)
c.352C>G
c.777C>G (p.Ala259=)
c.786C>G (p.Ala262=)
n.518-129G>C
3g.177047505G>TCA436985729TBL1XR1,TBL1XR1-AS1c.747C>A (p.Ala249=)
c.486C>A (p.Ala162=)
c.352C>A
c.777C>A (p.Ala259=)
c.786C>A (p.Ala262=)
n.518-129G>T
3g.177047506G>ACA355552265TBL1XR1,TBL1XR1-AS1c.746C>T (p.Ala249Val)
c.485C>T (p.Ala162Val)
c.351C>T
c.776C>T (p.Ala259Val)
c.785C>T (p.Ala262Val)
n.518-128G>A
 gnomAD v4
3g.177047506G>CCA355552266TBL1XR1,TBL1XR1-AS1c.746C>G (p.Ala249Gly)
c.485C>G (p.Ala162Gly)
c.351C>G
c.776C>G (p.Ala259Gly)
c.785C>G (p.Ala262Gly)
n.518-128G>C
3g.177047506G>TCA355552264TBL1XR1,TBL1XR1-AS1c.746C>A (p.Ala249Asp)
c.485C>A (p.Ala162Asp)
c.351C>A
c.776C>A (p.Ala259Asp)
c.785C>A (p.Ala262Asp)
n.518-128G>T
 gnomAD v4
3g.177047507C>ACA355552267TBL1XR1,TBL1XR1-AS1c.745G>T (p.Ala249Ser)
c.484G>T (p.Ala162Ser)
c.350G>T
c.775G>T (p.Ala259Ser)
c.784G>T (p.Ala262Ser)
n.518-127C>A
 gnomAD v4
3g.177047507C>GCA355552268TBL1XR1,TBL1XR1-AS1c.745G>C (p.Ala249Pro)
c.484G>C (p.Ala162Pro)
c.350G>C
c.775G>C (p.Ala259Pro)
c.784G>C (p.Ala262Pro)
n.518-127C>G
3g.177047507C>TCA355552269TBL1XR1,TBL1XR1-AS1c.745G>A (p.Ala249Thr)
c.484G>A (p.Ala162Thr)
c.350G>A
c.775G>A (p.Ala259Thr)
c.784G>A (p.Ala262Thr)
n.518-127C>T
3g.177047508A>CCA355552270TBL1XR1,TBL1XR1-AS1c.744T>G (p.Phe248Leu)
c.483T>G (p.Phe161Leu)
c.349T>G
c.774T>G (p.Phe258Leu)
c.783T>G (p.Phe261Leu)
n.518-126A>C
3g.177047508A>GCA436985730TBL1XR1,TBL1XR1-AS1c.744T>C (p.Phe248=)
c.483T>C (p.Phe161=)
c.349T>C
c.774T>C (p.Phe258=)
c.783T>C (p.Phe261=)
n.518-126A>G
 gnomAD v4
3g.177047508A>TCA355552271TBL1XR1,TBL1XR1-AS1c.744T>A (p.Phe248Leu)
c.483T>A (p.Phe161Leu)
c.349T>A
c.774T>A (p.Phe258Leu)
c.783T>A (p.Phe261Leu)
n.518-126A>T
3g.177047509A>CCA355552272TBL1XR1,TBL1XR1-AS1c.743T>G (p.Phe248Cys)
c.482T>G (p.Phe161Cys)
c.348T>G
c.773T>G (p.Phe258Cys)
c.782T>G (p.Phe261Cys)
n.518-125A>C
3g.177047509A>GCA355552273TBL1XR1,TBL1XR1-AS1c.743T>C (p.Phe248Ser)
c.482T>C (p.Phe161Ser)
c.348T>C
c.773T>C (p.Phe258Ser)
c.782T>C (p.Phe261Ser)
n.518-125A>G
3g.177047509A>TCA355552274TBL1XR1,TBL1XR1-AS1c.743T>A (p.Phe248Tyr)
c.482T>A (p.Phe161Tyr)
c.348T>A
c.773T>A (p.Phe258Tyr)
c.782T>A (p.Phe261Tyr)
n.518-125A>T
3g.177047509_177047510insCTGGTTCCTATGATGGGTTTGCCAGAATATGGCA2830535974TBL1XR1,TBL1XR1-AS1c.742_743insCCATATTCTGGCAAACCCATCATAGGAACCAG (p.Phe248SerfsTer26)
c.481_482insCCATATTCTGGCAAACCCATCATAGGAACCAG (p.Phe161SerfsTer26)
c.347_348insCCATATTCTGGCAAACCCATCATAGGAACCAG
c.772_773insCCATATTCTGGCAAACCCATCATAGGAACCAG (p.Phe258SerfsTer26)
c.781_782insCCATATTCTGGCAAACCCATCATAGGAACCAG (p.Phe261SerfsTer26)
n.518-125_518-124insCTGGTTCCTATGATGGGTTTGCCAGAATATGG
3g.177047510A>CCA355552275TBL1XR1,TBL1XR1-AS1c.742T>G (p.Phe248Val)
c.481T>G (p.Phe161Val)
c.347T>G
c.772T>G (p.Phe258Val)
c.781T>G (p.Phe261Val)
n.518-124A>C
3g.177047510A>GCA355552276TBL1XR1,TBL1XR1-AS1c.742T>C (p.Phe248Leu)
c.481T>C (p.Phe161Leu)
c.347T>C
c.772T>C (p.Phe258Leu)
c.781T>C (p.Phe261Leu)
n.518-124A>G
3g.177047510A>TCA355552277TBL1XR1,TBL1XR1-AS1c.742T>A (p.Phe248Ile)
c.481T>A (p.Phe161Ile)
c.347T>A
c.772T>A (p.Phe258Ile)
c.781T>A (p.Phe261Ile)
n.518-124A>T
3g.177047511C>ACA436985731TBL1XR1,TBL1XR1-AS1c.741G>T (p.Gly247=)
c.480G>T (p.Gly160=)
c.346G>T
c.771G>T (p.Gly257=)
c.780G>T (p.Gly260=)
n.518-123C>A
3g.177047511C>GCA436985732TBL1XR1,TBL1XR1-AS1c.741G>C (p.Gly247=)
c.480G>C (p.Gly160=)
c.346G>C
c.771G>C (p.Gly257=)
c.780G>C (p.Gly260=)
n.518-123C>G
3g.177047511C>TCA436985733TBL1XR1,TBL1XR1-AS1c.741G>A (p.Gly247=)
c.480G>A (p.Gly160=)
c.346G>A
c.771G>A (p.Gly257=)
c.780G>A (p.Gly260=)
n.518-123C>T
3g.177047512C>ACA355552280TBL1XR1,TBL1XR1-AS1c.740G>T (p.Gly247Val)
c.479G>T (p.Gly160Val)
c.345G>T
c.770G>T (p.Gly257Val)
c.779G>T (p.Gly260Val)
n.518-122C>A
3g.177047512C>GCA355552279TBL1XR1,TBL1XR1-AS1c.740G>C (p.Gly247Ala)
c.479G>C (p.Gly160Ala)
c.345G>C
c.770G>C (p.Gly257Ala)
c.779G>C (p.Gly260Ala)
n.518-122C>G
3g.177047512C>TCA355552278TBL1XR1,TBL1XR1-AS1c.740G>A (p.Gly247Glu)
c.479G>A (p.Gly160Glu)
c.345G>A
c.770G>A (p.Gly257Glu)
c.779G>A (p.Gly260Glu)
n.518-122C>T
 COSMIC
3g.177047513C>ACA355552281TBL1XR1,TBL1XR1-AS1c.739G>T (p.Gly247Trp)
c.478G>T (p.Gly160Trp)
c.344G>T
c.769G>T (p.Gly257Trp)
c.778G>T (p.Gly260Trp)
n.518-121C>A
3g.177047513C>GCA355552282TBL1XR1,TBL1XR1-AS1c.739G>C (p.Gly247Arg)
c.478G>C (p.Gly160Arg)
c.344G>C
c.769G>C (p.Gly257Arg)
c.778G>C (p.Gly260Arg)
n.518-121C>G
3g.177047513C>TCA355552283TBL1XR1,TBL1XR1-AS1c.739G>A (p.Gly247Arg)
c.478G>A (p.Gly160Arg)
c.344G>A
c.769G>A (p.Gly257Arg)
c.778G>A (p.Gly260Arg)
n.518-121C>T
 COSMIC
3g.177047514A>CCA355552284TBL1XR1,TBL1XR1-AS1c.738T>G (p.Asp246Glu)
c.477T>G (p.Asp159Glu)
c.343T>G
c.768T>G (p.Asp256Glu)
c.777T>G (p.Asp259Glu)
n.518-120A>C
3g.177047514A>GCA436985734TBL1XR1,TBL1XR1-AS1c.738T>C (p.Asp246=)
c.477T>C (p.Asp159=)
c.343T>C
c.768T>C (p.Asp256=)
c.777T>C (p.Asp259=)
n.518-120A>G
3g.177047514A>TCA355552285TBL1XR1,TBL1XR1-AS1c.738T>A (p.Asp246Glu)
c.477T>A (p.Asp159Glu)
c.343T>A
c.768T>A (p.Asp256Glu)
c.777T>A (p.Asp259Glu)
n.518-120A>T
3g.177047515T>ACA355552286TBL1XR1,TBL1XR1-AS1c.737A>T (p.Asp246Val)
c.476A>T (p.Asp159Val)
c.342A>T
c.767A>T (p.Asp256Val)
c.776A>T (p.Asp259Val)
n.518-119T>A
3g.177047515T>CCA355552287TBL1XR1,TBL1XR1-AS1c.737A>G (p.Asp246Gly)
c.476A>G (p.Asp159Gly)
c.342A>G
c.767A>G (p.Asp256Gly)
c.776A>G (p.Asp259Gly)
n.518-119T>C
3g.177047515T>GCA355552288TBL1XR1,TBL1XR1-AS1c.737A>C (p.Asp246Ala)
c.476A>C (p.Asp159Ala)
c.342A>C
c.767A>C (p.Asp256Ala)
c.776A>C (p.Asp259Ala)
n.518-119T>G
3g.177047516C>ACA355552289TBL1XR1,TBL1XR1-AS1c.736G>T (p.Asp246Tyr)
c.475G>T (p.Asp159Tyr)
c.341G>T
c.766G>T (p.Asp256Tyr)
c.775G>T (p.Asp259Tyr)
n.518-118C>A
3g.177047516C>GCA355552290TBL1XR1,TBL1XR1-AS1c.736G>C (p.Asp246His)
c.475G>C (p.Asp159His)
c.341G>C
c.766G>C (p.Asp256His)
c.775G>C (p.Asp259His)
n.518-118C>G
3g.177047516C>TCA355552291TBL1XR1,TBL1XR1-AS1c.736G>A (p.Asp246Asn)
c.475G>A (p.Asp159Asn)
c.341G>A
c.766G>A (p.Asp256Asn)
c.775G>A (p.Asp259Asn)
n.518-118C>T
3g.177047517A>CCA355552292TBL1XR1,TBL1XR1-AS1c.735T>G (p.Tyr245Ter)
c.474T>G (p.Tyr158Ter)
c.340T>G
c.765T>G (p.Tyr255Ter)
c.774T>G (p.Tyr258Ter)
n.518-117A>C
3g.177047517A>GCA436985735TBL1XR1,TBL1XR1-AS1c.735T>C (p.Tyr245=)
c.474T>C (p.Tyr158=)
c.340T>C
c.765T>C (p.Tyr255=)
c.774T>C (p.Tyr258=)
n.518-117A>G
3g.177047517A>TCA355552293TBL1XR1,TBL1XR1-AS1c.735T>A (p.Tyr245Ter)
c.474T>A (p.Tyr158Ter)
c.340T>A
c.765T>A (p.Tyr255Ter)
c.774T>A (p.Tyr258Ter)
n.518-117A>T
3g.177047518T>ACA355552295TBL1XR1,TBL1XR1-AS1c.734A>T (p.Tyr245Phe)
c.473A>T (p.Tyr158Phe)
c.339A>T
c.764A>T (p.Tyr255Phe)
c.773A>T (p.Tyr258Phe)
n.518-116T>A
3g.177047518T>CCA10576121TBL1XR1,TBL1XR1-AS1c.734A>G (p.Tyr245Cys)
c.473A>G (p.Tyr158Cys)
c.339A>G
c.764A>G (p.Tyr255Cys)
c.773A>G (p.Tyr258Cys)
n.518-116T>C
 ClinVar dbSNP
3g.177047518T>GCA355552294TBL1XR1,TBL1XR1-AS1c.734A>C (p.Tyr245Ser)
c.473A>C (p.Tyr158Ser)
c.339A>C
c.764A>C (p.Tyr255Ser)
c.773A>C (p.Tyr258Ser)
n.518-116T>G
3g.177047518T=CA1422667585TBL1XR1,TBL1XR1-AS1c.734A= (p.Tyr245=)
c.473A= (p.Tyr158=)
c.339A=
c.764A= (p.Tyr255=)
c.773A= (p.Tyr258=)
n.518-116T=
3g.177047519A>CCA355552298TBL1XR1,TBL1XR1-AS1c.733T>G (p.Tyr245Asp)
c.472T>G (p.Tyr158Asp)
c.338T>G
c.763T>G (p.Tyr255Asp)
c.772T>G (p.Tyr258Asp)
n.518-115A>C
3g.177047519A>GCA355552296TBL1XR1,TBL1XR1-AS1c.733T>C (p.Tyr245His)
c.472T>C (p.Tyr158His)
c.338T>C
c.763T>C (p.Tyr255His)
c.772T>C (p.Tyr258His)
n.518-115A>G
3g.177047519A>TCA355552297TBL1XR1,TBL1XR1-AS1c.733T>A (p.Tyr245Asn)
c.472T>A (p.Tyr158Asn)
c.338T>A
c.763T>A (p.Tyr255Asn)
c.772T>A (p.Tyr258Asn)
n.518-115A>T
3g.177047520G>ACA436985736TBL1XR1,TBL1XR1-AS1c.732C>T (p.Ser244=)
c.471C>T (p.Ser157=)
c.337C>T
c.762C>T (p.Ser254=)
c.771C>T (p.Ser257=)
n.518-114G>A
 ClinVar gnomAD v4
3g.177047520G>CCA436985737TBL1XR1,TBL1XR1-AS1c.732C>G (p.Ser244=)
c.471C>G (p.Ser157=)
c.337C>G
c.762C>G (p.Ser254=)
c.771C>G (p.Ser257=)
n.518-114G>C
3g.177047520G>TCA436985738TBL1XR1,TBL1XR1-AS1c.732C>A (p.Ser244=)
c.471C>A (p.Ser157=)
c.337C>A
c.762C>A (p.Ser254=)
c.771C>A (p.Ser257=)
n.518-114G>T
3g.177047521G>ACA89088939TBL1XR1,TBL1XR1-AS1c.731C>T (p.Ser244Phe)
c.470C>T (p.Ser157Phe)
c.336C>T
c.761C>T (p.Ser254Phe)
c.770C>T (p.Ser257Phe)
n.518-113G>A
 dbSNP
3g.177047521G>CCA355552299TBL1XR1,TBL1XR1-AS1c.731C>G (p.Ser244Cys)
c.470C>G (p.Ser157Cys)
c.336C>G
c.761C>G (p.Ser254Cys)
c.770C>G (p.Ser257Cys)
n.518-113G>C
3g.177047521G=CA1422667586TBL1XR1,TBL1XR1-AS1c.731C= (p.Ser244=)
c.470C= (p.Ser157=)
c.336C=
c.761C= (p.Ser254=)
c.770C= (p.Ser257=)
n.518-113G=
3g.177047521G>TCA355552300TBL1XR1,TBL1XR1-AS1c.731C>A (p.Ser244Tyr)
c.470C>A (p.Ser157Tyr)
c.336C>A
c.761C>A (p.Ser254Tyr)
c.770C>A (p.Ser257Tyr)
n.518-113G>T
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=

Number of alleles fetched