Chr Mutation (hg38) CAid Gene Transcript Linkouts
3g.177038174_177038313delCA2668595496TBL1XR1,TBL1XR1-AS1c.1047+1_1048-1del
c.786+1_787-1del
n.232+1_233-1del
c.646+1_647-1del
c.1077+1_1078-1del
c.1086+1_1087-1del
n.341-188_341-49del
 gnomAD v4
3g.177038280T>CCA2709851TBL1XR1,TBL1XR1-AS1c.1047+33A>G (n.1047+33A>G)
c.786+33A>G (n.786+33A>G)
n.232+33A>G
c.646+33A>G
c.1077+33A>G (n.1077+33A>G)
c.1086+33A>G (n.1086+33A>G)
n.341-82T>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.177038280T=CA1422663100TBL1XR1,TBL1XR1-AS1c.1047+33A= (n.1047+33A=)
c.786+33A= (n.786+33A=)
n.232+33A=
c.646+33A=
c.1077+33A= (n.1077+33A=)
c.1086+33A= (n.1086+33A=)
n.341-82T=
3g.177038281G>ACA2759514904TBL1XR1,TBL1XR1-AS1c.1047+32C>T (n.1047+32C>T)
c.786+32C>T (n.786+32C>T)
n.232+32C>T
c.646+32C>T
c.1077+32C>T (n.1077+32C>T)
c.1086+32C>T (n.1086+32C>T)
n.341-81G>A
3g.177038281G>TCA2668595574TBL1XR1,TBL1XR1-AS1c.1047+32C>A (n.1047+32C>A)
c.786+32C>A (n.786+32C>A)
n.232+32C>A
c.646+32C>A
c.1077+32C>A (n.1077+32C>A)
c.1086+32C>A (n.1086+32C>A)
n.341-81G>T
 gnomAD v4
3g.177038282A=CA1422663101TBL1XR1,TBL1XR1-AS1c.1047+31T= (n.1047+31T=)
c.786+31T= (n.786+31T=)
n.232+31T=
c.646+31T=
c.1077+31T= (n.1077+31T=)
c.1086+31T= (n.1086+31T=)
n.341-80A=
3g.177038282A>CCA2668595576TBL1XR1,TBL1XR1-AS1c.1047+31T>G (n.1047+31T>G)
c.786+31T>G (n.786+31T>G)
n.232+31T>G
c.646+31T>G
c.1077+31T>G (n.1077+31T>G)
c.1086+31T>G (n.1086+31T>G)
n.341-80A>C
 gnomAD v4
3g.177038282A>GCA548260159TBL1XR1,TBL1XR1-AS1c.1047+31T>C (n.1047+31T>C)
c.786+31T>C (n.786+31T>C)
n.232+31T>C
c.646+31T>C
c.1077+31T>C (n.1077+31T>C)
c.1086+31T>C (n.1086+31T>C)
n.341-80A>G
 dbSNP gnomAD v2 gnomAD v4
3g.177038282A>TCA89087858TBL1XR1,TBL1XR1-AS1c.1047+31T>A (n.1047+31T>A)
c.786+31T>A (n.786+31T>A)
n.232+31T>A
c.646+31T>A
c.1077+31T>A (n.1077+31T>A)
c.1086+31T>A (n.1086+31T>A)
n.341-80A>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.177038283C>ACA2668595584TBL1XR1,TBL1XR1-AS1c.1047+30G>T (n.1047+30G>T)
c.786+30G>T (n.786+30G>T)
n.232+30G>T
c.646+30G>T
c.1077+30G>T (n.1077+30G>T)
c.1086+30G>T (n.1086+30G>T)
n.341-79C>A
 gnomAD v4
3g.177038283C>TCA2759514905TBL1XR1,TBL1XR1-AS1c.1047+30G>A (n.1047+30G>A)
c.786+30G>A (n.786+30G>A)
n.232+30G>A
c.646+30G>A
c.1077+30G>A (n.1077+30G>A)
c.1086+30G>A (n.1086+30G>A)
n.341-79C>T
3g.177038284C>ACA2668595585TBL1XR1,TBL1XR1-AS1c.1047+29G>T (n.1047+29G>T)
c.786+29G>T (n.786+29G>T)
n.232+29G>T
c.646+29G>T
c.1077+29G>T (n.1077+29G>T)
c.1086+29G>T (n.1086+29G>T)
n.341-78C>A
 gnomAD v4
3g.177038285A>GCA2606573820TBL1XR1,TBL1XR1-AS1c.1047+28T>C (n.1047+28T>C)
c.786+28T>C (n.786+28T>C)
n.232+28T>C
c.646+28T>C
c.1077+28T>C (n.1077+28T>C)
c.1086+28T>C (n.1086+28T>C)
n.341-77A>G
 dbSNP gnomAD v3 gnomAD v4
3g.177038285A>TCA2668595587TBL1XR1,TBL1XR1-AS1c.1047+28T>A (n.1047+28T>A)
c.786+28T>A (n.786+28T>A)
n.232+28T>A
c.646+28T>A
c.1077+28T>A (n.1077+28T>A)
c.1086+28T>A (n.1086+28T>A)
n.341-77A>T
 gnomAD v4
3g.177038286C=CA1422663102TBL1XR1,TBL1XR1-AS1c.1047+27G= (n.1047+27G=)
c.786+27G= (n.786+27G=)
n.232+27G=
c.646+27G=
c.1077+27G= (n.1077+27G=)
c.1086+27G= (n.1086+27G=)
n.341-76C=
3g.177038286C>TCA1056717188TBL1XR1,TBL1XR1-AS1c.1047+27G>A (n.1047+27G>A)
c.786+27G>A (n.786+27G>A)
n.232+27G>A
c.646+27G>A
c.1077+27G>A (n.1077+27G>A)
c.1086+27G>A (n.1086+27G>A)
n.341-76C>T
 dbSNP gnomAD v3 gnomAD v4
3g.177038287T>ACA2709852TBL1XR1,TBL1XR1-AS1c.1047+26A>T (n.1047+26A>T)
c.786+26A>T (n.786+26A>T)
n.232+26A>T
c.646+26A>T
c.1077+26A>T (n.1077+26A>T)
c.1086+26A>T (n.1086+26A>T)
n.341-75T>A
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.177038287T>CCA2577962538TBL1XR1,TBL1XR1-AS1c.1047+26A>G (n.1047+26A>G)
c.786+26A>G (n.786+26A>G)
n.232+26A>G
c.646+26A>G
c.1077+26A>G (n.1077+26A>G)
c.1086+26A>G (n.1086+26A>G)
n.341-75T>C
3g.177038287T=CA1422663103TBL1XR1,TBL1XR1-AS1c.1047+26A= (n.1047+26A=)
c.786+26A= (n.786+26A=)
n.232+26A=
c.646+26A=
c.1077+26A= (n.1077+26A=)
c.1086+26A= (n.1086+26A=)
n.341-75T=
3g.177038287_177038289delCA2668595590TBL1XR1,TBL1XR1-AS1c.1047+24_1047+26del (n.1047+24_1047+26del)
c.786+24_786+26del (n.786+24_786+26del)
n.232+24_232+26del
c.646+24_646+26del
c.1077+24_1077+26del (n.1077+24_1077+26del)
c.1086+24_1086+26del (n.1086+24_1086+26del)
n.341-75_341-73del
 gnomAD v4
3g.177038289T>CCA1422663105TBL1XR1,TBL1XR1-AS1c.1047+24A>G (n.1047+24A>G)
c.786+24A>G (n.786+24A>G)
n.232+24A>G
c.646+24A>G
c.1077+24A>G (n.1077+24A>G)
c.1086+24A>G (n.1086+24A>G)
n.341-73T>C
 dbSNP gnomAD v3 gnomAD v4
3g.177038289T>GCA2759514906TBL1XR1,TBL1XR1-AS1c.1047+24A>C (n.1047+24A>C)
c.786+24A>C (n.786+24A>C)
n.232+24A>C
c.646+24A>C
c.1077+24A>C (n.1077+24A>C)
c.1086+24A>C (n.1086+24A>C)
n.341-73T>G
3g.177038289T=CA1422663104TBL1XR1,TBL1XR1-AS1c.1047+24A= (n.1047+24A=)
c.786+24A= (n.786+24A=)
n.232+24A=
c.646+24A=
c.1077+24A= (n.1077+24A=)
c.1086+24A= (n.1086+24A=)
n.341-73T=
3g.177038292T>ACA2759514907TBL1XR1,TBL1XR1-AS1c.1047+21A>T (n.1047+21A>T)
c.786+21A>T (n.786+21A>T)
n.232+21A>T
c.646+21A>T
c.1077+21A>T (n.1077+21A>T)
c.1086+21A>T (n.1086+21A>T)
n.341-70T>A
3g.177038292T>CCA2668595592TBL1XR1,TBL1XR1-AS1c.1047+21A>G (n.1047+21A>G)
c.786+21A>G (n.786+21A>G)
n.232+21A>G
c.646+21A>G
c.1077+21A>G (n.1077+21A>G)
c.1086+21A>G (n.1086+21A>G)
n.341-70T>C
 gnomAD v4
3g.177038292_177038296delCA2668595591TBL1XR1,TBL1XR1-AS1c.1047+17_1047+21del (n.1047+17_1047+21del)
c.786+17_786+21del (n.786+17_786+21del)
n.232+17_232+21del
c.646+17_646+21del
c.1077+17_1077+21del (n.1077+17_1077+21del)
c.1086+17_1086+21del (n.1086+17_1086+21del)
n.341-70_341-66del
 gnomAD v4
3g.177038293G>ACA2668595593TBL1XR1,TBL1XR1-AS1c.1047+20C>T (n.1047+20C>T)
c.786+20C>T (n.786+20C>T)
n.232+20C>T
c.646+20C>T
c.1077+20C>T (n.1077+20C>T)
c.1086+20C>T (n.1086+20C>T)
n.341-69G>A
 gnomAD v4
3g.177038293G>TCA2668595594TBL1XR1,TBL1XR1-AS1c.1047+20C>A (n.1047+20C>A)
c.786+20C>A (n.786+20C>A)
n.232+20C>A
c.646+20C>A
c.1077+20C>A (n.1077+20C>A)
c.1086+20C>A (n.1086+20C>A)
n.341-69G>T
 gnomAD v4
3g.177038294T>ACA2668595595TBL1XR1,TBL1XR1-AS1c.1047+19A>T (n.1047+19A>T)
c.786+19A>T (n.786+19A>T)
n.232+19A>T
c.646+19A>T
c.1077+19A>T (n.1077+19A>T)
c.1086+19A>T (n.1086+19A>T)
n.341-68T>A
 gnomAD v4
3g.177038294T>GCA2668595596TBL1XR1,TBL1XR1-AS1c.1047+19A>C (n.1047+19A>C)
c.786+19A>C (n.786+19A>C)
n.232+19A>C
c.646+19A>C
c.1077+19A>C (n.1077+19A>C)
c.1086+19A>C (n.1086+19A>C)
n.341-68T>G
 gnomAD v4
3g.177038296dupCA1056717189TBL1XR1,TBL1XR1-AS1c.1047+18dup (n.1047+18dup)
c.786+18dup (n.786+18dup)
n.232+18dup
c.646+18dup
c.1077+18dup (n.1077+18dup)
c.1086+18dup (n.1086+18dup)
n.341-66dup
 gnomAD v3 gnomAD v4
3g.177038296G>ACA2668595597TBL1XR1,TBL1XR1-AS1c.1047+17C>T (n.1047+17C>T)
c.786+17C>T (n.786+17C>T)
n.232+17C>T
c.646+17C>T
c.1077+17C>T (n.1077+17C>T)
c.1086+17C>T (n.1086+17C>T)
n.341-66G>A
 gnomAD v4
3g.177038296G=CA1422663106TBL1XR1,TBL1XR1-AS1c.1047+17C= (n.1047+17C=)
c.786+17C= (n.786+17C=)
n.232+17C=
c.646+17C=
c.1077+17C= (n.1077+17C=)
c.1086+17C= (n.1086+17C=)
n.341-66G=
3g.177038296G>TCA2668595598TBL1XR1,TBL1XR1-AS1c.1047+17C>A (n.1047+17C>A)
c.786+17C>A (n.786+17C>A)
n.232+17C>A
c.646+17C>A
c.1077+17C>A (n.1077+17C>A)
c.1086+17C>A (n.1086+17C>A)
n.341-66G>T
 gnomAD v4
3g.177038302dupCA548260160TBL1XR1,TBL1XR1-AS1c.1047+16dup (n.1047+16dup)
c.786+16dup (n.786+16dup)
n.232+16dup
c.646+16dup
c.1077+16dup (n.1077+16dup)
c.1086+16dup (n.1086+16dup)
n.341-60dup
 dbSNP gnomAD v2 gnomAD v4
3g.177038302delCA2668595600TBL1XR1,TBL1XR1-AS1c.1047+16del (n.1047+16del)
c.786+16del (n.786+16del)
n.232+16del
c.646+16del
c.1077+16del (n.1077+16del)
c.1086+16del (n.1086+16del)
n.341-60del
 gnomAD v4
3g.177038299A>GCA2668595601TBL1XR1,TBL1XR1-AS1c.1047+14T>C (n.1047+14T>C)
c.786+14T>C (n.786+14T>C)
n.232+14T>C
c.646+14T>C
c.1077+14T>C (n.1077+14T>C)
c.1086+14T>C (n.1086+14T>C)
n.341-63A>G
 gnomAD v4
3g.177038300A>GCA2668595602TBL1XR1,TBL1XR1-AS1c.1047+13T>C (n.1047+13T>C)
c.786+13T>C (n.786+13T>C)
n.232+13T>C
c.646+13T>C
c.1077+13T>C (n.1077+13T>C)
c.1086+13T>C (n.1086+13T>C)
n.341-62A>G
 gnomAD v4
3g.177038301A=CA1422663107TBL1XR1,TBL1XR1-AS1c.1047+12T= (n.1047+12T=)
c.786+12T= (n.786+12T=)
n.232+12T=
c.646+12T=
c.1077+12T= (n.1077+12T=)
c.1086+12T= (n.1086+12T=)
n.341-61A=
3g.177038301A>CCA548260162TBL1XR1,TBL1XR1-AS1c.1047+12T>G (n.1047+12T>G)
c.786+12T>G (n.786+12T>G)
n.232+12T>G
c.646+12T>G
c.1077+12T>G (n.1077+12T>G)
c.1086+12T>G (n.1086+12T>G)
n.341-61A>C
 dbSNP gnomAD v2 gnomAD v4
3g.177038302A>GCA2668595604TBL1XR1,TBL1XR1-AS1c.1047+11T>C (n.1047+11T>C)
c.786+11T>C (n.786+11T>C)
n.232+11T>C
c.646+11T>C
c.1077+11T>C (n.1077+11T>C)
c.1086+11T>C (n.1086+11T>C)
n.341-60A>G
 gnomAD v4
3g.177038304delCA2759514908TBL1XR1,TBL1XR1-AS1c.1047+10del (n.1047+10del)
c.786+10del (n.786+10del)
n.232+10del
c.646+10del
c.1077+10del (n.1077+10del)
c.1086+10del (n.1086+10del)
n.341-58del
3g.177038304G>TCA2668595605TBL1XR1,TBL1XR1-AS1c.1047+9C>A (n.1047+9C>A)
c.786+9C>A (n.786+9C>A)
n.232+9C>A
c.646+9C>A
c.1077+9C>A (n.1077+9C>A)
c.1086+9C>A (n.1086+9C>A)
n.341-58G>T
 gnomAD v4
3g.177038306T>CCA2532662202TBL1XR1,TBL1XR1-AS1c.1047+7A>G (n.1047+7A>G)
c.786+7A>G (n.786+7A>G)
n.232+7A>G
c.646+7A>G
c.1077+7A>G (n.1077+7A>G)
c.1086+7A>G (n.1086+7A>G)
n.341-56T>C
3g.177038307T>ACA2668595606TBL1XR1,TBL1XR1-AS1c.1047+6A>T (n.1047+6A>T)
c.786+6A>T (n.786+6A>T)
n.232+6A>T
c.646+6A>T
c.1077+6A>T (n.1077+6A>T)
c.1086+6A>T (n.1086+6A>T)
n.341-55T>A
 gnomAD v4
3g.177038308C>ACA2580069136TBL1XR1,TBL1XR1-AS1c.1047+5G>T (n.1047+5G>T)
c.786+5G>T (n.786+5G>T)
n.232+5G>T
c.646+5G>T
c.1077+5G>T (n.1077+5G>T)
c.1086+5G>T (n.1086+5G>T)
n.341-54C>A
 ClinVar gnomAD v4
3g.177038308_177038309insAGAATAGTTCA2531715799TBL1XR1,TBL1XR1-AS1c.1047+4_1047+5insAACTATTCT (n.1047+4_1047+5insAACTATTCT)
c.786+4_786+5insAACTATTCT (n.786+4_786+5insAACTATTCT)
n.232+4_232+5insAACTATTCT
c.646+4_646+5insAACTATTCT
c.1077+4_1077+5insAACTATTCT (n.1077+4_1077+5insAACTATTCT)
c.1086+4_1086+5insAACTATTCT (n.1086+4_1086+5insAACTATTCT)
n.341-54_341-53insAGAATAGTT
3g.177038309T>CCA2709853TBL1XR1,TBL1XR1-AS1c.1047+4A>G (n.1047+4A>G)
c.786+4A>G (n.786+4A>G)
n.232+4A>G
c.646+4A>G
c.1077+4A>G (n.1077+4A>G)
c.1086+4A>G (n.1086+4A>G)
n.341-53T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.177038309T=CA1422663108TBL1XR1,TBL1XR1-AS1c.1047+4A= (n.1047+4A=)
c.786+4A= (n.786+4A=)
n.232+4A=
c.646+4A=
c.1077+4A= (n.1077+4A=)
c.1086+4A= (n.1086+4A=)
n.341-53T=
3g.177038310dupCA2668595612TBL1XR1,TBL1XR1-AS1c.1047+4dup (n.1047+4dup)
c.786+4dup (n.786+4dup)
n.232+4dup
c.646+4dup
c.1077+4dup (n.1077+4dup)
c.1086+4dup (n.1086+4dup)
n.341-52dup
 gnomAD v4
3g.177038310T>CCA548260163TBL1XR1,TBL1XR1-AS1c.1047+3A>G (n.1047+3A>G)
c.786+3A>G (n.786+3A>G)
n.232+3A>G
c.646+3A>G
c.1077+3A>G (n.1077+3A>G)
c.1086+3A>G (n.1086+3A>G)
n.341-52T>C
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.177038310T=CA1422663109TBL1XR1,TBL1XR1-AS1c.1047+3A= (n.1047+3A=)
c.786+3A= (n.786+3A=)
n.232+3A=
c.646+3A=
c.1077+3A= (n.1077+3A=)
c.1086+3A= (n.1086+3A=)
n.341-52T=
3g.177038311A>CCA355555182TBL1XR1,TBL1XR1-AS1c.1047+2T>G (n.1047+2T>G)
c.786+2T>G (n.786+2T>G)
n.232+2T>G
c.646+2T>G
c.1077+2T>G (n.1077+2T>G)
c.1086+2T>G (n.1086+2T>G)
n.341-51A>C
3g.177038311A>GCA355555185TBL1XR1,TBL1XR1-AS1c.1047+2T>C (n.1047+2T>C)
c.786+2T>C (n.786+2T>C)
n.232+2T>C
c.646+2T>C
c.1077+2T>C (n.1077+2T>C)
c.1086+2T>C (n.1086+2T>C)
n.341-51A>G
3g.177038311A>TCA355555184TBL1XR1,TBL1XR1-AS1c.1047+2T>A (n.1047+2T>A)
c.786+2T>A (n.786+2T>A)
n.232+2T>A
c.646+2T>A
c.1077+2T>A (n.1077+2T>A)
c.1086+2T>A (n.1086+2T>A)
n.341-51A>T
3g.177038312C>ACA355555186TBL1XR1,TBL1XR1-AS1c.1047+1G>T (n.1047+1G>T)
c.786+1G>T (n.786+1G>T)
n.232+1G>T
c.646+1G>T
c.1077+1G>T (n.1077+1G>T)
c.1086+1G>T (n.1086+1G>T)
n.341-50C>A
 gnomAD v4
3g.177038312C>GCA355555188TBL1XR1,TBL1XR1-AS1c.1047+1G>C (n.1047+1G>C)
c.786+1G>C (n.786+1G>C)
n.232+1G>C
c.646+1G>C
c.1077+1G>C (n.1077+1G>C)
c.1086+1G>C (n.1086+1G>C)
n.341-50C>G
 ClinVar
3g.177038312C>TCA355555189TBL1XR1,TBL1XR1-AS1c.1047+1G>A (n.1047+1G>A)
c.786+1G>A (n.786+1G>A)
n.232+1G>A
c.646+1G>A
c.1077+1G>A (n.1077+1G>A)
c.1086+1G>A (n.1086+1G>A)
n.341-50C>T
 gnomAD v4
3g.177038313C>ACA436985760TBL1XR1,TBL1XR1-AS1c.1047G>T (p.Thr349=)
c.786G>T (p.Thr262=)
n.232G>T
c.646G>T
c.1077G>T (p.Thr359=)
c.1086G>T (p.Thr362=)
n.341-49C>A
 ClinVar
3g.177038313C=CA1422663110TBL1XR1,TBL1XR1-AS1c.1047G= (p.Thr349=)
c.786G= (p.Thr262=)
n.232G=
c.646G=
c.1077G= (p.Thr359=)
c.1086G= (p.Thr362=)
n.341-49C=
3g.177038313C>GCA436985761TBL1XR1,TBL1XR1-AS1c.1047G>C (p.Thr349=)
c.786G>C (p.Thr262=)
n.232G>C
c.646G>C
c.1077G>C (p.Thr359=)
c.1086G>C (p.Thr362=)
n.341-49C>G
3g.177038313C>TCA89087859TBL1XR1,TBL1XR1-AS1c.1047G>A (p.Thr349=)
c.786G>A (p.Thr262=)
n.232G>A
c.646G>A
c.1077G>A (p.Thr359=)
c.1086G>A (p.Thr362=)
n.341-49C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC
3g.177038314G>ACA355555191TBL1XR1,TBL1XR1-AS1c.1046C>T (p.Thr349Met)
c.785C>T (p.Thr262Met)
n.231C>T
c.645C>T
c.1076C>T (p.Thr359Met)
c.1085C>T (p.Thr362Met)
n.341-48G>A
 ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC
3g.177038314G>CCA355555192TBL1XR1,TBL1XR1-AS1c.1046C>G (p.Thr349Arg)
c.785C>G (p.Thr262Arg)
n.231C>G
c.645C>G
c.1076C>G (p.Thr359Arg)
c.1085C>G (p.Thr362Arg)
n.341-48G>C
3g.177038314G=CA1422663111TBL1XR1,TBL1XR1-AS1c.1046C= (p.Thr349=)
c.785C= (p.Thr262=)
n.231C=
c.645C=
c.1076C= (p.Thr359=)
c.1085C= (p.Thr362=)
n.341-48G=
3g.177038314G>TCA2709854TBL1XR1,TBL1XR1-AS1c.1046C>A (p.Thr349Lys)
c.785C>A (p.Thr262Lys)
n.231C>A
c.645C>A
c.1076C>A (p.Thr359Lys)
c.1085C>A (p.Thr362Lys)
n.341-48G>T
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.177038315T>ACA355555195TBL1XR1,TBL1XR1-AS1c.1045A>T (p.Thr349Ser)
c.784A>T (p.Thr262Ser)
n.230A>T
c.644A>T
c.1075A>T (p.Thr359Ser)
c.1084A>T (p.Thr362Ser)
n.341-47T>A
3g.177038315T>CCA355555196TBL1XR1,TBL1XR1-AS1c.1045A>G (p.Thr349Ala)
c.784A>G (p.Thr262Ala)
n.230A>G
c.644A>G
c.1075A>G (p.Thr359Ala)
c.1084A>G (p.Thr362Ala)
n.341-47T>C
 gnomAD v4
3g.177038315T>GCA355555198TBL1XR1,TBL1XR1-AS1c.1045A>C (p.Thr349Pro)
c.784A>C (p.Thr262Pro)
n.230A>C
c.644A>C
c.1075A>C (p.Thr359Pro)
c.1084A>C (p.Thr362Pro)
n.341-47T>G
3g.177038316A>CCA355555200TBL1XR1,TBL1XR1-AS1c.1044T>G (p.His348Gln)
c.783T>G (p.His261Gln)
n.229T>G
c.643T>G
c.1074T>G (p.His358Gln)
c.1083T>G (p.His361Gln)
n.341-46A>C
3g.177038316A>GCA436985762TBL1XR1,TBL1XR1-AS1c.1044T>C (p.His348=)
c.783T>C (p.His261=)
n.229T>C
c.643T>C
c.1074T>C (p.His358=)
c.1083T>C (p.His361=)
n.341-46A>G
 gnomAD v4
3g.177038316A>TCA355555199TBL1XR1,TBL1XR1-AS1c.1044T>A (p.His348Gln)
c.783T>A (p.His261Gln)
n.229T>A
c.643T>A
c.1074T>A (p.His358Gln)
c.1083T>A (p.His361Gln)
n.341-46A>T
3g.177038317T>ACA355555202TBL1XR1,TBL1XR1-AS1c.1043A>T (p.His348Leu)
c.782A>T (p.His261Leu)
n.228A>T
c.642A>T
c.1073A>T (p.His358Leu)
c.1082A>T (p.His361Leu)
n.341-45T>A
3g.177038317T>CCA355555205TBL1XR1,TBL1XR1-AS1c.1043A>G (p.His348Arg)
c.782A>G (p.His261Arg)
n.228A>G
c.642A>G
c.1073A>G (p.His358Arg)
c.1082A>G (p.His361Arg)
n.341-45T>C
 ClinVar dbSNP COSMIC
3g.177038317T>GCA355555203TBL1XR1,TBL1XR1-AS1c.1043A>C (p.His348Pro)
c.782A>C (p.His261Pro)
n.228A>C
c.642A>C
c.1073A>C (p.His358Pro)
c.1082A>C (p.His361Pro)
n.341-45T>G
3g.177038317T=CA1422663112TBL1XR1,TBL1XR1-AS1c.1043A= (p.His348=)
c.782A= (p.His261=)
n.228A=
c.642A=
c.1073A= (p.His358=)
c.1082A= (p.His361=)
n.341-45T=
3g.177038318G>ACA355555206TBL1XR1,TBL1XR1-AS1c.1042C>T (p.His348Tyr)
c.781C>T (p.His261Tyr)
n.227C>T
c.641C>T
c.1072C>T (p.His358Tyr)
c.1081C>T (p.His361Tyr)
n.341-44G>A
3g.177038318G>CCA355555208TBL1XR1,TBL1XR1-AS1c.1042C>G (p.His348Asp)
c.781C>G (p.His261Asp)
n.227C>G
c.641C>G
c.1072C>G (p.His358Asp)
c.1081C>G (p.His361Asp)
n.341-44G>C
3g.177038318G>TCA355555209TBL1XR1,TBL1XR1-AS1c.1042C>A (p.His348Asn)
c.781C>A (p.His261Asn)
n.227C>A
c.641C>A
c.1072C>A (p.His358Asn)
c.1081C>A (p.His361Asn)
n.341-44G>T
3g.177038319T>ACA436985763TBL1XR1,TBL1XR1-AS1c.1041A>T (p.Gly347=)
c.780A>T (p.Gly260=)
n.226A>T
c.640A>T
c.1071A>T (p.Gly357=)
c.1080A>T (p.Gly360=)
n.341-43T>A
3g.177038319T>CCA436985765TBL1XR1,TBL1XR1-AS1c.1041A>G (p.Gly347=)
c.780A>G (p.Gly260=)
n.226A>G
c.640A>G
c.1071A>G (p.Gly357=)
c.1080A>G (p.Gly360=)
n.341-43T>C
3g.177038319T>GCA436985767TBL1XR1,TBL1XR1-AS1c.1041A>C (p.Gly347=)
c.780A>C (p.Gly260=)
n.226A>C
c.640A>C
c.1071A>C (p.Gly357=)
c.1080A>C (p.Gly360=)
n.341-43T>G
3g.177038320C>ACA355555210TBL1XR1,TBL1XR1-AS1c.1040G>T (p.Gly347Val)
c.779G>T (p.Gly260Val)
n.225G>T
c.639G>T
c.1070G>T (p.Gly357Val)
c.1079G>T (p.Gly360Val)
n.341-42C>A
 gnomAD v4
3g.177038320C>GCA355555212TBL1XR1,TBL1XR1-AS1c.1040G>C (p.Gly347Ala)
c.779G>C (p.Gly260Ala)
n.225G>C
c.639G>C
c.1070G>C (p.Gly357Ala)
c.1079G>C (p.Gly360Ala)
n.341-42C>G
3g.177038320C>TCA355555213TBL1XR1,TBL1XR1-AS1c.1040G>A (p.Gly347Glu)
c.779G>A (p.Gly260Glu)
n.225G>A
c.639G>A
c.1070G>A (p.Gly357Glu)
c.1079G>A (p.Gly360Glu)
n.341-42C>T
3g.177038321C>ACA355555214TBL1XR1,TBL1XR1-AS1c.1039G>T (p.Gly347Ter)
c.778G>T (p.Gly260Ter)
n.224G>T
c.638G>T
c.1069G>T (p.Gly357Ter)
c.1078G>T (p.Gly360Ter)
n.341-41C>A
 gnomAD v4
3g.177038321C>GCA355555215TBL1XR1,TBL1XR1-AS1c.1039G>C (p.Gly347Arg)
c.778G>C (p.Gly260Arg)
n.224G>C
c.638G>C
c.1069G>C (p.Gly357Arg)
c.1078G>C (p.Gly360Arg)
n.341-41C>G
3g.177038321C>TCA355555217TBL1XR1,TBL1XR1-AS1c.1039G>A (p.Gly347Arg)
c.778G>A (p.Gly260Arg)
n.224G>A
c.638G>A
c.1069G>A (p.Gly357Arg)
c.1078G>A (p.Gly360Arg)
n.341-41C>T
3g.177038322T>ACA355555218TBL1XR1,TBL1XR1-AS1c.1038A>T (p.Gln346His)
c.777A>T (p.Gln259His)
n.223A>T
c.637A>T
c.1068A>T (p.Gln356His)
c.1077A>T (p.Gln359His)
n.341-40T>A
 gnomAD v4
3g.177038322T>CCA436985775TBL1XR1,TBL1XR1-AS1c.1038A>G (p.Gln346=)
c.777A>G (p.Gln259=)
n.223A>G
c.637A>G
c.1068A>G (p.Gln356=)
c.1077A>G (p.Gln359=)
n.341-40T>C
3g.177038322T>GCA355555220TBL1XR1,TBL1XR1-AS1c.1038A>C (p.Gln346His)
c.777A>C (p.Gln259His)
n.223A>C
c.637A>C
c.1068A>C (p.Gln356His)
c.1077A>C (p.Gln359His)
n.341-40T>G
3g.177038323T>ACA355555224TBL1XR1,TBL1XR1-AS1c.1037A>T (p.Gln346Leu)
c.776A>T (p.Gln259Leu)
n.222A>T
c.636A>T
c.1067A>T (p.Gln356Leu)
c.1076A>T (p.Gln359Leu)
n.341-39T>A
3g.177038323T>CCA355555223TBL1XR1,TBL1XR1-AS1c.1037A>G (p.Gln346Arg)
c.776A>G (p.Gln259Arg)
n.222A>G
c.636A>G
c.1067A>G (p.Gln356Arg)
c.1076A>G (p.Gln359Arg)
n.341-39T>C
 gnomAD v4
3g.177038323T>GCA355555221TBL1XR1,TBL1XR1-AS1c.1037A>C (p.Gln346Pro)
c.776A>C (p.Gln259Pro)
n.222A>C
c.636A>C
c.1067A>C (p.Gln356Pro)
c.1076A>C (p.Gln359Pro)
n.341-39T>G
3g.177038324G>ACA355555225TBL1XR1,TBL1XR1-AS1c.1036C>T (p.Gln346Ter)
c.775C>T (p.Gln259Ter)
n.221C>T
c.635C>T
c.1066C>T (p.Gln356Ter)
c.1075C>T (p.Gln359Ter)
n.341-38G>A
 gnomAD v4
3g.177038324G>CCA355555227TBL1XR1,TBL1XR1-AS1c.1036C>G (p.Gln346Glu)
c.775C>G (p.Gln259Glu)
n.221C>G
c.635C>G
c.1066C>G (p.Gln356Glu)
c.1075C>G (p.Gln359Glu)
n.341-38G>C
 gnomAD v4
3g.177038324G>TCA355555228TBL1XR1,TBL1XR1-AS1c.1036C>A (p.Gln346Lys)
c.775C>A (p.Gln259Lys)
n.221C>A
c.635C>A
c.1066C>A (p.Gln356Lys)
c.1075C>A (p.Gln359Lys)
n.341-38G>T
 gnomAD v4
3g.177038325G>ACA2709855TBL1XR1,TBL1XR1-AS1c.1035C>T (p.Phe345=)
c.774C>T (p.Phe258=)
n.220C>T
c.634C>T
c.1065C>T (p.Phe355=)
c.1074C>T (p.Phe358=)
n.341-37G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.177038325G>CCA355555230TBL1XR1,TBL1XR1-AS1c.1035C>G (p.Phe345Leu)
c.774C>G (p.Phe258Leu)
n.220C>G
c.634C>G
c.1065C>G (p.Phe355Leu)
c.1074C>G (p.Phe358Leu)
n.341-37G>C
3g.177038325G=CA1422663113TBL1XR1,TBL1XR1-AS1c.1035C= (p.Phe345=)
c.774C= (p.Phe258=)
n.220C=
c.634C=
c.1065C= (p.Phe355=)
c.1074C= (p.Phe358=)
n.341-37G=
3g.177038325G>TCA355555232TBL1XR1,TBL1XR1-AS1c.1035C>A (p.Phe345Leu)
c.774C>A (p.Phe258Leu)
n.220C>A
c.634C>A
c.1065C>A (p.Phe355Leu)
c.1074C>A (p.Phe358Leu)
n.341-37G>T
 ClinVar dbSNP gnomAD v4
3g.177038326A>CCA355555233TBL1XR1,TBL1XR1-AS1c.1034T>G (p.Phe345Cys)
c.773T>G (p.Phe258Cys)
n.219T>G
c.633T>G
c.1064T>G (p.Phe355Cys)
c.1073T>G (p.Phe358Cys)
n.341-36A>C
3g.177038326A>GCA355555234TBL1XR1,TBL1XR1-AS1c.1034T>C (p.Phe345Ser)
c.773T>C (p.Phe258Ser)
n.219T>C
c.633T>C
c.1064T>C (p.Phe355Ser)
c.1073T>C (p.Phe358Ser)
n.341-36A>G
 gnomAD v4
3g.177038326A>TCA355555236TBL1XR1,TBL1XR1-AS1c.1034T>A (p.Phe345Tyr)
c.773T>A (p.Phe258Tyr)
n.219T>A
c.633T>A
c.1064T>A (p.Phe355Tyr)
c.1073T>A (p.Phe358Tyr)
n.341-36A>T
3g.177038327A>CCA355555237TBL1XR1,TBL1XR1-AS1c.1033T>G (p.Phe345Val)
c.772T>G (p.Phe258Val)
n.218T>G
c.632T>G
c.1063T>G (p.Phe355Val)
c.1072T>G (p.Phe358Val)
n.341-35A>C
3g.177038327A>GCA355555239TBL1XR1,TBL1XR1-AS1c.1033T>C (p.Phe345Leu)
c.772T>C (p.Phe258Leu)
n.218T>C
c.632T>C
c.1063T>C (p.Phe355Leu)
c.1072T>C (p.Phe358Leu)
n.341-35A>G
3g.177038327A>TCA355555240TBL1XR1,TBL1XR1-AS1c.1033T>A (p.Phe345Ile)
c.772T>A (p.Phe258Ile)
n.218T>A
c.632T>A
c.1063T>A (p.Phe355Ile)
c.1072T>A (p.Phe358Ile)
n.341-35A>T
3g.177038328T>ACA436985791TBL1XR1,TBL1XR1-AS1c.1032A>T (p.Thr344=)
c.771A>T (p.Thr257=)
n.217A>T
c.631A>T
c.1062A>T (p.Thr354=)
c.1071A>T (p.Thr357=)
n.341-34T>A
3g.177038328T>CCA436985793TBL1XR1,TBL1XR1-AS1c.1032A>G (p.Thr344=)
c.771A>G (p.Thr257=)
n.217A>G
c.631A>G
c.1062A>G (p.Thr354=)
c.1071A>G (p.Thr357=)
n.341-34T>C
 gnomAD v4
3g.177038328T>GCA436985795TBL1XR1,TBL1XR1-AS1c.1032A>C (p.Thr344=)
c.771A>C (p.Thr257=)
n.217A>C
c.631A>C
c.1062A>C (p.Thr354=)
c.1071A>C (p.Thr357=)
n.341-34T>G
 gnomAD v4
3g.177038329G>ACA355555244TBL1XR1,TBL1XR1-AS1c.1031C>T (p.Thr344Ile)
c.770C>T (p.Thr257Ile)
n.216C>T
c.630C>T
c.1061C>T (p.Thr354Ile)
c.1070C>T (p.Thr357Ile)
n.341-33G>A
3g.177038329G>CCA355555243TBL1XR1,TBL1XR1-AS1c.1031C>G (p.Thr344Arg)
c.770C>G (p.Thr257Arg)
n.216C>G
c.630C>G
c.1061C>G (p.Thr354Arg)
c.1070C>G (p.Thr357Arg)
n.341-33G>C
3g.177038329G>TCA355555241TBL1XR1,TBL1XR1-AS1c.1031C>A (p.Thr344Lys)
c.770C>A (p.Thr257Lys)
n.216C>A
c.630C>A
c.1061C>A (p.Thr354Lys)
c.1070C>A (p.Thr357Lys)
n.341-33G>T
3g.177038330T>ACA355555246TBL1XR1,TBL1XR1-AS1c.1030A>T (p.Thr344Ser)
c.769A>T (p.Thr257Ser)
n.215A>T
c.629A>T
c.1060A>T (p.Thr354Ser)
c.1069A>T (p.Thr357Ser)
n.341-32T>A
3g.177038330T>CCA355555247TBL1XR1,TBL1XR1-AS1c.1030A>G (p.Thr344Ala)
c.769A>G (p.Thr257Ala)
n.215A>G
c.629A>G
c.1060A>G (p.Thr354Ala)
c.1069A>G (p.Thr357Ala)
n.341-32T>C
 gnomAD v4
3g.177038330T>GCA355555249TBL1XR1,TBL1XR1-AS1c.1030A>C (p.Thr344Pro)
c.769A>C (p.Thr257Pro)
n.215A>C
c.629A>C
c.1060A>C (p.Thr354Pro)
c.1069A>C (p.Thr357Pro)
n.341-32T>G
3g.177038331T>ACA355555250TBL1XR1,TBL1XR1-AS1c.1029A>T (p.Lys343Asn)
c.768A>T (p.Lys256Asn)
n.214A>T
c.628A>T
c.1059A>T (p.Lys353Asn)
c.1068A>T (p.Lys356Asn)
n.341-31T>A
3g.177038331T>CCA436985801TBL1XR1,TBL1XR1-AS1c.1029A>G (p.Lys343=)
c.768A>G (p.Lys256=)
n.214A>G
c.628A>G
c.1059A>G (p.Lys353=)
c.1068A>G (p.Lys356=)
n.341-31T>C
3g.177038331T>GCA355555251TBL1XR1,TBL1XR1-AS1c.1029A>C (p.Lys343Asn)
c.768A>C (p.Lys256Asn)
n.214A>C
c.628A>C
c.1059A>C (p.Lys353Asn)
c.1068A>C (p.Lys356Asn)
n.341-31T>G
3g.177038332T>ACA355555253TBL1XR1,TBL1XR1-AS1c.1028A>T (p.Lys343Ile)
c.767A>T (p.Lys256Ile)
n.213A>T
c.627A>T
c.1058A>T (p.Lys353Ile)
c.1067A>T (p.Lys356Ile)
n.341-30T>A
3g.177038332T>CCA355555255TBL1XR1,TBL1XR1-AS1c.1028A>G (p.Lys343Arg)
c.767A>G (p.Lys256Arg)
n.213A>G
c.627A>G
c.1058A>G (p.Lys353Arg)
c.1067A>G (p.Lys356Arg)
n.341-30T>C
3g.177038332T>GCA355555256TBL1XR1,TBL1XR1-AS1c.1028A>C (p.Lys343Thr)
c.767A>C (p.Lys256Thr)
n.213A>C
c.627A>C
c.1058A>C (p.Lys353Thr)
c.1067A>C (p.Lys356Thr)
n.341-30T>G
3g.177038333T>ACA355555258TBL1XR1,TBL1XR1-AS1c.1027A>T (p.Lys343Ter)
c.766A>T (p.Lys256Ter)
n.212A>T
c.626A>T
c.1057A>T (p.Lys353Ter)
c.1066A>T (p.Lys356Ter)
n.341-29T>A
3g.177038333T>CCA355555259TBL1XR1,TBL1XR1-AS1c.1027A>G (p.Lys343Glu)
c.766A>G (p.Lys256Glu)
n.212A>G
c.626A>G
c.1057A>G (p.Lys353Glu)
c.1066A>G (p.Lys356Glu)
n.341-29T>C
3g.177038333T>GCA355555260TBL1XR1,TBL1XR1-AS1c.1027A>C (p.Lys343Gln)
c.766A>C (p.Lys256Gln)
n.212A>C
c.626A>C
c.1057A>C (p.Lys353Gln)
c.1066A>C (p.Lys356Gln)
n.341-29T>G
3g.177038334A>CCA355555261TBL1XR1,TBL1XR1-AS1c.1026T>G (p.Ile342Met)
c.765T>G (p.Ile255Met)
n.211T>G
c.625T>G
c.1056T>G (p.Ile352Met)
c.1065T>G (p.Ile355Met)
n.341-28A>C
3g.177038334A>GCA436985813TBL1XR1,TBL1XR1-AS1c.1026T>C (p.Ile342=)
c.765T>C (p.Ile255=)
n.211T>C
c.625T>C
c.1056T>C (p.Ile352=)
c.1065T>C (p.Ile355=)
n.341-28A>G
 gnomAD v4
3g.177038334A>TCA436985811TBL1XR1,TBL1XR1-AS1c.1026T>A (p.Ile342=)
c.765T>A (p.Ile255=)
n.211T>A
c.625T>A
c.1056T>A (p.Ile352=)
c.1065T>A (p.Ile355=)
n.341-28A>T
 ClinVar
3g.177038335A=CA1422663114TBL1XR1,TBL1XR1-AS1c.1025T= (p.Ile342=)
c.764T= (p.Ile255=)
n.210T=
c.624T=
c.1055T= (p.Ile352=)
c.1064T= (p.Ile355=)
n.341-27A=
3g.177038335A>CCA355555265TBL1XR1,TBL1XR1-AS1c.1025T>G (p.Ile342Ser)
c.764T>G (p.Ile255Ser)
n.210T>G
c.624T>G
c.1055T>G (p.Ile352Ser)
c.1064T>G (p.Ile355Ser)
n.341-27A>C
3g.177038335A>GCA355555266TBL1XR1,TBL1XR1-AS1c.1025T>C (p.Ile342Thr)
c.764T>C (p.Ile255Thr)
n.210T>C
c.624T>C
c.1055T>C (p.Ile352Thr)
c.1064T>C (p.Ile355Thr)
n.341-27A>G
3g.177038335A>TCA355555263TBL1XR1,TBL1XR1-AS1c.1025T>A (p.Ile342Asn)
c.764T>A (p.Ile255Asn)
n.210T>A
c.624T>A
c.1055T>A (p.Ile352Asn)
c.1064T>A (p.Ile355Asn)
n.341-27A>T
 dbSNP gnomAD v2
3g.177038336T>ACA355555268TBL1XR1,TBL1XR1-AS1c.1024A>T (p.Ile342Phe)
c.763A>T (p.Ile255Phe)
n.209A>T
c.623A>T
c.1054A>T (p.Ile352Phe)
c.1063A>T (p.Ile355Phe)
n.341-26T>A
3g.177038336T>CCA355555269TBL1XR1,TBL1XR1-AS1c.1024A>G (p.Ile342Val)
c.763A>G (p.Ile255Val)
n.209A>G
c.623A>G
c.1054A>G (p.Ile352Val)
c.1063A>G (p.Ile355Val)
n.341-26T>C
 dbSNP gnomAD v2 gnomAD v4
3g.177038336T>GCA355555270TBL1XR1,TBL1XR1-AS1c.1024A>C (p.Ile342Leu)
c.763A>C (p.Ile255Leu)
n.209A>C
c.623A>C
c.1054A>C (p.Ile352Leu)
c.1063A>C (p.Ile355Leu)
n.341-26T>G
3g.177038336T=CA1422663115TBL1XR1,TBL1XR1-AS1c.1024A= (p.Ile342=)
c.763A= (p.Ile255=)
n.209A=
c.623A=
c.1054A= (p.Ile352=)
c.1063A= (p.Ile355=)
n.341-26T=
3g.177038337A>CCA436985828TBL1XR1,TBL1XR1-AS1c.1023T>G (p.Pro341=)
c.762T>G (p.Pro254=)
n.208T>G
c.622T>G
c.1053T>G (p.Pro351=)
c.1062T>G (p.Pro354=)
n.341-25A>C
3g.177038337A>GCA436985826TBL1XR1,TBL1XR1-AS1c.1023T>C (p.Pro341=)
c.762T>C (p.Pro254=)
n.208T>C
c.622T>C
c.1053T>C (p.Pro351=)
c.1062T>C (p.Pro354=)
n.341-25A>G
 gnomAD v4
3g.177038337A>TCA436985824TBL1XR1,TBL1XR1-AS1c.1023T>A (p.Pro341=)
c.762T>A (p.Pro254=)
n.208T>A
c.622T>A
c.1053T>A (p.Pro351=)
c.1062T>A (p.Pro354=)
n.341-25A>T
3g.177038338G>ACA355555271TBL1XR1,TBL1XR1-AS1c.1022C>T (p.Pro341Leu)
c.761C>T (p.Pro254Leu)
n.207C>T
c.621C>T
c.1052C>T (p.Pro351Leu)
c.1061C>T (p.Pro354Leu)
n.341-24G>A
 ClinVar
3g.177038338G>CCA355555273TBL1XR1,TBL1XR1-AS1c.1022C>G (p.Pro341Arg)
c.761C>G (p.Pro254Arg)
n.207C>G
c.621C>G
c.1052C>G (p.Pro351Arg)
c.1061C>G (p.Pro354Arg)
n.341-24G>C
3g.177038338G>TCA355555274TBL1XR1,TBL1XR1-AS1c.1022C>A (p.Pro341His)
c.761C>A (p.Pro254His)
n.207C>A
c.621C>A
c.1052C>A (p.Pro351His)
c.1061C>A (p.Pro354His)
n.341-24G>T
 gnomAD v4
3g.177038338_177038342delinsGGTCTCA1422663116TBL1XR1,TBL1XR1-AS1c.1018_1022delinsAGACC (p.Arg340=)
c.757_761delinsAGACC (p.Arg253=)
n.203_207delinsAGACC
c.617_621delinsAGACC
c.1048_1052delinsAGACC (p.Arg350=)
c.1057_1061delinsAGACC (p.Arg353=)
n.341-24_341-20delinsGGTCT
3g.177038339G>ACA355555276TBL1XR1,TBL1XR1-AS1c.1021C>T (p.Pro341Ser)
c.760C>T (p.Pro254Ser)
n.206C>T
c.620C>T
c.1051C>T (p.Pro351Ser)
c.1060C>T (p.Pro354Ser)
n.341-23G>A
 gnomAD v4
3g.177038339G>CCA355555279TBL1XR1,TBL1XR1-AS1c.1021C>G (p.Pro341Ala)
c.760C>G (p.Pro254Ala)
n.206C>G
c.620C>G
c.1051C>G (p.Pro351Ala)
c.1060C>G (p.Pro354Ala)
n.341-23G>C
3g.177038339G=CA1422663118TBL1XR1,TBL1XR1-AS1c.1021C= (p.Pro341=)
c.760C= (p.Pro254=)
n.206C=
c.620C=
c.1051C= (p.Pro351=)
c.1060C= (p.Pro354=)
n.341-23G=
3g.177038339G>TCA355555277TBL1XR1,TBL1XR1-AS1c.1021C>A (p.Pro341Thr)
c.760C>A (p.Pro254Thr)
n.206C>A
c.620C>A
c.1051C>A (p.Pro351Thr)
c.1060C>A (p.Pro354Thr)
n.341-23G>T
 dbSNP gnomAD v4
3g.177038343_177038346delCA1422663117TBL1XR1,TBL1XR1-AS1c.1018_1021del (p.Arg340LeufsTer12)
c.757_760del (p.Arg253LeufsTer12)
n.203_206del
c.617_620del
c.1048_1051del (p.Arg350LeufsTer12)
c.1057_1060del (p.Arg353LeufsTer12)
n.341-19_341-16del
 ClinVar dbSNP
3g.177038340T>ACA355555280TBL1XR1,TBL1XR1-AS1c.1020A>T (p.Arg340Ser)
c.759A>T (p.Arg253Ser)
n.205A>T
c.619A>T
c.1050A>T (p.Arg350Ser)
c.1059A>T (p.Arg353Ser)
n.341-22T>A
 gnomAD v4
3g.177038340T>CCA436985837TBL1XR1,TBL1XR1-AS1c.1020A>G (p.Arg340=)
c.759A>G (p.Arg253=)
n.205A>G
c.619A>G
c.1050A>G (p.Arg350=)
c.1059A>G (p.Arg353=)
n.341-22T>C
3g.177038340T>GCA355555281TBL1XR1,TBL1XR1-AS1c.1020A>C (p.Arg340Ser)
c.759A>C (p.Arg253Ser)
n.205A>C
c.619A>C
c.1050A>C (p.Arg350Ser)
c.1059A>C (p.Arg353Ser)
n.341-22T>G
3g.177038341C>ACA355555283TBL1XR1,TBL1XR1-AS1c.1019G>T (p.Arg340Ile)
c.758G>T (p.Arg253Ile)
n.204G>T
c.618G>T
c.1049G>T (p.Arg350Ile)
c.1058G>T (p.Arg353Ile)
n.341-21C>A
 gnomAD v4 COSMIC
3g.177038341C>GCA355555284TBL1XR1,TBL1XR1-AS1c.1019G>C (p.Arg340Thr)
c.758G>C (p.Arg253Thr)
n.204G>C
c.618G>C
c.1049G>C (p.Arg350Thr)
c.1058G>C (p.Arg353Thr)
n.341-21C>G
3g.177038341C>TCA355555286TBL1XR1,TBL1XR1-AS1c.1019G>A (p.Arg340Lys)
c.758G>A (p.Arg253Lys)
n.204G>A
c.618G>A
c.1049G>A (p.Arg350Lys)
c.1058G>A (p.Arg353Lys)
n.341-21C>T
 gnomAD v4
3g.177038342T>ACA355555289TBL1XR1,TBL1XR1-AS1c.1018A>T (p.Arg340Ter)
c.757A>T (p.Arg253Ter)
n.203A>T
c.617A>T
c.1048A>T (p.Arg350Ter)
c.1057A>T (p.Arg353Ter)
n.341-20T>A
3g.177038342T>CCA355555287TBL1XR1,TBL1XR1-AS1c.1018A>G (p.Arg340Gly)
c.757A>G (p.Arg253Gly)
n.203A>G
c.617A>G
c.1048A>G (p.Arg350Gly)
c.1057A>G (p.Arg353Gly)
n.341-20T>C
3g.177038342T>GCA436985843TBL1XR1,TBL1XR1-AS1c.1018A>C (p.Arg340=)
c.757A>C (p.Arg253=)
n.203A>C
c.617A>C
c.1048A>C (p.Arg350=)
c.1057A>C (p.Arg353=)
n.341-20T>G
3g.177038343G>ACA436985845TBL1XR1,TBL1XR1-AS1c.1017C>T (p.Asp339=)
c.756C>T (p.Asp252=)
n.202C>T
c.616C>T
c.1047C>T (p.Asp349=)
c.1056C>T (p.Asp352=)
n.341-19G>A
 gnomAD v4
3g.177038343G>CCA355555290TBL1XR1,TBL1XR1-AS1c.1017C>G (p.Asp339Glu)
c.756C>G (p.Asp252Glu)
n.202C>G
c.616C>G
c.1047C>G (p.Asp349Glu)
c.1056C>G (p.Asp352Glu)
n.341-19G>C
3g.177038343G>TCA355555291TBL1XR1,TBL1XR1-AS1c.1017C>A (p.Asp339Glu)
c.756C>A (p.Asp252Glu)
n.202C>A
c.616C>A
c.1047C>A (p.Asp349Glu)
c.1056C>A (p.Asp352Glu)
n.341-19G>T
 gnomAD v4
3g.177038344T>ACA355555292TBL1XR1,TBL1XR1-AS1c.1016A>T (p.Asp339Val)
c.755A>T (p.Asp252Val)
n.201A>T
c.615A>T
c.1046A>T (p.Asp349Val)
c.1055A>T (p.Asp352Val)
n.341-18T>A
3g.177038344T>CCA355555294TBL1XR1,TBL1XR1-AS1c.1016A>G (p.Asp339Gly)
c.755A>G (p.Asp252Gly)
n.201A>G
c.615A>G
c.1046A>G (p.Asp349Gly)
c.1055A>G (p.Asp352Gly)
n.341-18T>C
3g.177038344T>GCA355555293TBL1XR1,TBL1XR1-AS1c.1016A>C (p.Asp339Ala)
c.755A>C (p.Asp252Ala)
n.201A>C
c.615A>C
c.1046A>C (p.Asp349Ala)
c.1055A>C (p.Asp352Ala)
n.341-18T>G
3g.177038345C>ACA355555295TBL1XR1,TBL1XR1-AS1c.1015G>T (p.Asp339Tyr)
c.754G>T (p.Asp252Tyr)
n.200G>T
c.614G>T
c.1045G>T (p.Asp349Tyr)
c.1054G>T (p.Asp352Tyr)
n.341-17C>A
 gnomAD v4 COSMIC
3g.177038345C>GCA355555296TBL1XR1,TBL1XR1-AS1c.1015G>C (p.Asp339His)
c.754G>C (p.Asp252His)
n.200G>C
c.614G>C
c.1045G>C (p.Asp349His)
c.1054G>C (p.Asp352His)
n.341-17C>G
3g.177038345C>TCA355555297TBL1XR1,TBL1XR1-AS1c.1015G>A (p.Asp339Asn)
c.754G>A (p.Asp252Asn)
n.200G>A
c.614G>A
c.1045G>A (p.Asp349Asn)
c.1054G>A (p.Asp352Asn)
n.341-17C>T
3g.177038346T>ACA355555298TBL1XR1,TBL1XR1-AS1c.1014A>T (p.Gln338His)
c.753A>T (p.Gln251His)
n.199A>T
c.613A>T
c.1044A>T (p.Gln348His)
c.1053A>T (p.Gln351His)
n.341-16T>A
3g.177038346T>CCA436985857TBL1XR1,TBL1XR1-AS1c.1014A>G (p.Gln338=)
c.753A>G (p.Gln251=)
n.199A>G
c.613A>G
c.1044A>G (p.Gln348=)
c.1053A>G (p.Gln351=)
n.341-16T>C
 gnomAD v4
3g.177038346T>GCA355555299TBL1XR1,TBL1XR1-AS1c.1014A>C (p.Gln338His)
c.753A>C (p.Gln251His)
n.199A>C
c.613A>C
c.1044A>C (p.Gln348His)
c.1053A>C (p.Gln351His)
n.341-16T>G
3g.177038347T>ACA355555300TBL1XR1,TBL1XR1-AS1c.1013A>T (p.Gln338Leu)
c.752A>T (p.Gln251Leu)
n.198A>T
c.612A>T
c.1043A>T (p.Gln348Leu)
c.1052A>T (p.Gln351Leu)
n.341-15T>A
 gnomAD v4
3g.177038347T>CCA355555301TBL1XR1,TBL1XR1-AS1c.1013A>G (p.Gln338Arg)
c.752A>G (p.Gln251Arg)
n.198A>G
c.612A>G
c.1043A>G (p.Gln348Arg)
c.1052A>G (p.Gln351Arg)
n.341-15T>C
3g.177038347T>GCA355555302TBL1XR1,TBL1XR1-AS1c.1013A>C (p.Gln338Pro)
c.752A>C (p.Gln251Pro)
n.198A>C
c.612A>C
c.1043A>C (p.Gln348Pro)
c.1052A>C (p.Gln351Pro)
n.341-15T>G
3g.177038348G>ACA355555303TBL1XR1,TBL1XR1-AS1c.1012C>T (p.Gln338Ter)
c.751C>T (p.Gln251Ter)
n.197C>T
c.611C>T
c.1042C>T (p.Gln348Ter)
c.1051C>T (p.Gln351Ter)
n.341-14G>A
3g.177038348G>CCA355555304TBL1XR1,TBL1XR1-AS1c.1012C>G (p.Gln338Glu)
c.751C>G (p.Gln251Glu)
n.197C>G
c.611C>G
c.1042C>G (p.Gln348Glu)
c.1051C>G (p.Gln351Glu)
n.341-14G>C
 gnomAD v4
3g.177038348G>TCA355555305TBL1XR1,TBL1XR1-AS1c.1012C>A (p.Gln338Lys)
c.751C>A (p.Gln251Lys)
n.197C>A
c.611C>A
c.1042C>A (p.Gln348Lys)
c.1051C>A (p.Gln351Lys)
n.341-14G>T
3g.177038349T>ACA436985868TBL1XR1,TBL1XR1-AS1c.1011A>T (p.Gly337=)
c.750A>T (p.Gly250=)
n.196A>T
c.610A>T
c.1041A>T (p.Gly347=)
c.1050A>T (p.Gly350=)
n.341-13T>A
3g.177038349T>CCA436985870TBL1XR1,TBL1XR1-AS1c.1011A>G (p.Gly337=)
c.750A>G (p.Gly250=)
n.196A>G
c.610A>G
c.1041A>G (p.Gly347=)
c.1050A>G (p.Gly350=)
n.341-13T>C
 gnomAD v4
3g.177038349T>GCA436985871TBL1XR1,TBL1XR1-AS1c.1011A>C (p.Gly337=)
c.750A>C (p.Gly250=)
n.196A>C
c.610A>C
c.1041A>C (p.Gly347=)
c.1050A>C (p.Gly350=)
n.341-13T>G
3g.177038350C>ACA355555308TBL1XR1,TBL1XR1-AS1c.1010G>T (p.Gly337Val)
c.749G>T (p.Gly250Val)
n.195G>T
c.609G>T
c.1040G>T (p.Gly347Val)
c.1049G>T (p.Gly350Val)
n.341-12C>A
3g.177038350C=CA1422663119TBL1XR1,TBL1XR1-AS1c.1010G= (p.Gly337=)
c.749G= (p.Gly250=)
n.195G=
c.609G=
c.1040G= (p.Gly347=)
c.1049G= (p.Gly350=)
n.341-12C=
3g.177038350C>GCA355555307TBL1XR1,TBL1XR1-AS1c.1010G>C (p.Gly337Ala)
c.749G>C (p.Gly250Ala)
n.195G>C
c.609G>C
c.1040G>C (p.Gly347Ala)
c.1049G>C (p.Gly350Ala)
n.341-12C>G
3g.177038350C>TCA355555306TBL1XR1,TBL1XR1-AS1c.1010G>A (p.Gly337Glu)
c.749G>A (p.Gly250Glu)
n.195G>A
c.609G>A
c.1040G>A (p.Gly347Glu)
c.1049G>A (p.Gly350Glu)
n.341-12C>T
 dbSNP gnomAD v4
3g.177038351C>ACA355555309TBL1XR1,TBL1XR1-AS1c.1009G>T (p.Gly337Ter)
c.748G>T (p.Gly250Ter)
n.194G>T
c.608G>T
c.1039G>T (p.Gly347Ter)
c.1048G>T (p.Gly350Ter)
n.341-11C>A
 gnomAD v4
3g.177038351C>GCA355555310TBL1XR1,TBL1XR1-AS1c.1009G>C (p.Gly337Arg)
c.748G>C (p.Gly250Arg)
n.194G>C
c.608G>C
c.1039G>C (p.Gly347Arg)
c.1048G>C (p.Gly350Arg)
n.341-11C>G
3g.177038351C>TCA355555311TBL1XR1,TBL1XR1-AS1c.1009G>A (p.Gly337Arg)
c.748G>A (p.Gly250Arg)
n.194G>A
c.608G>A
c.1039G>A (p.Gly347Arg)
c.1048G>A (p.Gly350Arg)
n.341-11C>T
 gnomAD v4
3g.177038352T>ACA355555312TBL1XR1,TBL1XR1-AS1c.1008A>T (p.Leu336Phe)
c.747A>T (p.Leu249Phe)
n.193A>T
c.607A>T
c.1038A>T (p.Leu346Phe)
c.1047A>T (p.Leu349Phe)
n.341-10T>A
3g.177038352T>CCA436985881TBL1XR1,TBL1XR1-AS1c.1008A>G (p.Leu336=)
c.747A>G (p.Leu249=)
n.193A>G
c.607A>G
c.1038A>G (p.Leu346=)
c.1047A>G (p.Leu349=)
n.341-10T>C
 gnomAD v4
3g.177038352T>GCA355555313TBL1XR1,TBL1XR1-AS1c.1008A>C (p.Leu336Phe)
c.747A>C (p.Leu249Phe)
n.193A>C
c.607A>C
c.1038A>C (p.Leu346Phe)
c.1047A>C (p.Leu349Phe)
n.341-10T>G
3g.177038353A>CCA355555314TBL1XR1,TBL1XR1-AS1c.1007T>G (p.Leu336Ter)
c.746T>G (p.Leu249Ter)
n.192T>G
c.606T>G
c.1037T>G (p.Leu346Ter)
c.1046T>G (p.Leu349Ter)
n.341-9A>C
3g.177038353A>GCA355555315TBL1XR1,TBL1XR1-AS1c.1007T>C (p.Leu336Ser)
c.746T>C (p.Leu249Ser)
n.192T>C
c.606T>C
c.1037T>C (p.Leu346Ser)
c.1046T>C (p.Leu349Ser)
n.341-9A>G
 ClinVar gnomAD v4 COSMIC
3g.177038353A>TCA355555316TBL1XR1,TBL1XR1-AS1c.1007T>A (p.Leu336Ter)
c.746T>A (p.Leu249Ter)
n.192T>A
c.606T>A
c.1037T>A (p.Leu346Ter)
c.1046T>A (p.Leu349Ter)
n.341-9A>T
3g.177038354A>CCA355555317TBL1XR1,TBL1XR1-AS1c.1006T>G (p.Leu336Val)
c.745T>G (p.Leu249Val)
n.191T>G
c.605T>G
c.1036T>G (p.Leu346Val)
c.1045T>G (p.Leu349Val)
n.341-8A>C
3g.177038354A>GCA436985887TBL1XR1,TBL1XR1-AS1c.1006T>C (p.Leu336=)
c.745T>C (p.Leu249=)
n.191T>C
c.605T>C
c.1036T>C (p.Leu346=)
c.1045T>C (p.Leu349=)
n.341-8A>G
3g.177038354A>TCA355555318TBL1XR1,TBL1XR1-AS1c.1006T>A (p.Leu336Ile)
c.745T>A (p.Leu249Ile)
n.191T>A
c.605T>A
c.1036T>A (p.Leu346Ile)
c.1045T>A (p.Leu349Ile)
n.341-8A>T
3g.177038355T>ACA355555319TBL1XR1,TBL1XR1-AS1c.1005A>T (p.Lys335Asn)
c.744A>T (p.Lys248Asn)
n.190A>T
c.604A>T
c.1035A>T (p.Lys345Asn)
c.1044A>T (p.Lys348Asn)
n.341-7T>A
3g.177038355T>CCA436985891TBL1XR1,TBL1XR1-AS1c.1005A>G (p.Lys335=)
c.744A>G (p.Lys248=)
n.190A>G
c.604A>G
c.1035A>G (p.Lys345=)
c.1044A>G (p.Lys348=)
n.341-7T>C
 gnomAD v4
3g.177038355T>GCA355555320TBL1XR1,TBL1XR1-AS1c.1005A>C (p.Lys335Asn)
c.744A>C (p.Lys248Asn)
n.190A>C
c.604A>C
c.1035A>C (p.Lys345Asn)
c.1044A>C (p.Lys348Asn)
n.341-7T>G
3g.177038357delCA2668595638TBL1XR1,TBL1XR1-AS1c.1005del (p.Lys335AsnfsTer2)
c.744del (p.Lys248AsnfsTer2)
n.190del
c.604del
c.1035del (p.Lys345AsnfsTer2)
c.1044del (p.Lys348AsnfsTer2)
n.341-5del
 gnomAD v4
3g.177038356T>ACA355555323TBL1XR1,TBL1XR1-AS1c.1004A>T (p.Lys335Ile)
c.743A>T (p.Lys248Ile)
n.189A>T
c.603A>T
c.1034A>T (p.Lys345Ile)
c.1043A>T (p.Lys348Ile)
n.341-6T>A
3g.177038356T>CCA355555322TBL1XR1,TBL1XR1-AS1c.1004A>G (p.Lys335Arg)
c.743A>G (p.Lys248Arg)
n.189A>G
c.603A>G
c.1034A>G (p.Lys345Arg)
c.1043A>G (p.Lys348Arg)
n.341-6T>C
3g.177038356T>GCA355555321TBL1XR1,TBL1XR1-AS1c.1004A>C (p.Lys335Thr)
c.743A>C (p.Lys248Thr)
n.189A>C
c.603A>C
c.1034A>C (p.Lys345Thr)
c.1043A>C (p.Lys348Thr)
n.341-6T>G
3g.177038357T>ACA355555326TBL1XR1,TBL1XR1-AS1c.1003A>T (p.Lys335Ter)
c.742A>T (p.Lys248Ter)
n.188A>T
c.602A>T
c.1033A>T (p.Lys345Ter)
c.1042A>T (p.Lys348Ter)
n.341-5T>A
3g.177038357T>CCA355555324TBL1XR1,TBL1XR1-AS1c.1003A>G (p.Lys335Glu)
c.742A>G (p.Lys248Glu)
n.188A>G
c.602A>G
c.1033A>G (p.Lys345Glu)
c.1042A>G (p.Lys348Glu)
n.341-5T>C
3g.177038357T>GCA355555325TBL1XR1,TBL1XR1-AS1c.1003A>C (p.Lys335Gln)
c.742A>C (p.Lys248Gln)
n.188A>C
c.602A>C
c.1033A>C (p.Lys345Gln)
c.1042A>C (p.Lys348Gln)
n.341-5T>G
 COSMIC
3g.177038358A=CA1422663120TBL1XR1,TBL1XR1-AS1c.1002T= (p.Cys334=)
c.741T= (p.Cys247=)
n.187T=
c.601T=
c.1032T= (p.Cys344=)
c.1041T= (p.Cys347=)
n.341-4A=
3g.177038358A>CCA355555327TBL1XR1,TBL1XR1-AS1c.1002T>G (p.Cys334Trp)
c.741T>G (p.Cys247Trp)
n.187T>G
c.601T>G
c.1032T>G (p.Cys344Trp)
c.1041T>G (p.Cys347Trp)
n.341-4A>C
3g.177038358A>GCA436985900TBL1XR1,TBL1XR1-AS1c.1002T>C (p.Cys334=)
c.741T>C (p.Cys247=)
n.187T>C
c.601T>C
c.1032T>C (p.Cys344=)
c.1041T>C (p.Cys347=)
n.341-4A>G
 dbSNP gnomAD v4
3g.177038358A>TCA355555328TBL1XR1,TBL1XR1-AS1c.1002T>A (p.Cys334Ter)
c.741T>A (p.Cys247Ter)
n.187T>A
c.601T>A
c.1032T>A (p.Cys344Ter)
c.1041T>A (p.Cys347Ter)
n.341-4A>T
3g.177038359C>ACA355555329TBL1XR1,TBL1XR1-AS1c.1001G>T (p.Cys334Phe)
c.740G>T (p.Cys247Phe)
n.186G>T
c.600G>T
c.1031G>T (p.Cys344Phe)
c.1040G>T (p.Cys347Phe)
n.341-3C>A
 gnomAD v4
3g.177038359C>GCA355555330TBL1XR1,TBL1XR1-AS1c.1001G>C (p.Cys334Ser)
c.740G>C (p.Cys247Ser)
n.186G>C
c.600G>C
c.1031G>C (p.Cys344Ser)
c.1040G>C (p.Cys347Ser)
n.341-3C>G
3g.177038359C>TCA355555331TBL1XR1,TBL1XR1-AS1c.1001G>A (p.Cys334Tyr)
c.740G>A (p.Cys247Tyr)
n.186G>A
c.600G>A
c.1031G>A (p.Cys344Tyr)
c.1040G>A (p.Cys347Tyr)
n.341-3C>T
 gnomAD v4
3g.177038360A=CA1422663121TBL1XR1,TBL1XR1-AS1c.1000T= (p.Cys334=)
c.739T= (p.Cys247=)
n.185T=
c.599T=
c.1030T= (p.Cys344=)
c.1039T= (p.Cys347=)
n.341-2A=
3g.177038360A>CCA355555332TBL1XR1,TBL1XR1-AS1c.1000T>G (p.Cys334Gly)
c.739T>G (p.Cys247Gly)
n.185T>G
c.599T>G
c.1030T>G (p.Cys344Gly)
c.1039T>G (p.Cys347Gly)
n.341-2A>C
3g.177038360A>GCA355555334TBL1XR1,TBL1XR1-AS1c.1000T>C (p.Cys334Arg)
c.739T>C (p.Cys247Arg)
n.185T>C
c.599T>C
c.1030T>C (p.Cys344Arg)
c.1039T>C (p.Cys347Arg)
n.341-2A>G
 ClinVar dbSNP
3g.177038360A>TCA355555333TBL1XR1,TBL1XR1-AS1c.1000T>A (p.Cys334Ser)
c.739T>A (p.Cys247Ser)
n.185T>A
c.599T>A
c.1030T>A (p.Cys344Ser)
c.1039T>A (p.Cys347Ser)
n.341-2A>T
 gnomAD v4
3g.177038361G>ACA436985908TBL1XR1,TBL1XR1-AS1c.999C>T (p.Val333=)
c.738C>T (p.Val246=)
n.184C>T
c.598C>T
c.1029C>T (p.Val343=)
c.1038C>T (p.Val346=)
n.341-1G>A
 ClinVar
3g.177038361G>CCA89087860TBL1XR1,TBL1XR1-AS1c.999C>G (p.Val333=)
c.738C>G (p.Val246=)
n.184C>G
c.598C>G
c.1029C>G (p.Val343=)
c.1038C>G (p.Val346=)
n.341-1G>C
 dbSNP gnomAD v3 gnomAD v4
3g.177038361G=CA1422663122TBL1XR1,TBL1XR1-AS1c.999C= (p.Val333=)
c.738C= (p.Val246=)
n.184C=
c.598C=
c.1029C= (p.Val343=)
c.1038C= (p.Val346=)
n.341-1G=
3g.177038361G>TCA436985911TBL1XR1,TBL1XR1-AS1c.999C>A (p.Val333=)
c.738C>A (p.Val246=)
n.184C>A
c.598C>A
c.1029C>A (p.Val343=)
c.1038C>A (p.Val346=)
n.341-1G>T
 gnomAD v4
3g.177038362A=CA1422663123TBL1XR1,TBL1XR1-AS1c.998T= (p.Val333=)
c.737T= (p.Val246=)
n.183T=
c.597T=
c.1028T= (p.Val343=)
c.1037T= (p.Val346=)
n.341A=
3g.177038362A>CCA355555335TBL1XR1,TBL1XR1-AS1c.998T>G (p.Val333Gly)
c.737T>G (p.Val246Gly)
n.183T>G
c.597T>G
c.1028T>G (p.Val343Gly)
c.1037T>G (p.Val346Gly)
n.341A>C
3g.177038362A>GCA355555336TBL1XR1,TBL1XR1-AS1c.998T>C (p.Val333Ala)
c.737T>C (p.Val246Ala)
n.183T>C
c.597T>C
c.1028T>C (p.Val343Ala)
c.1037T>C (p.Val346Ala)
n.341A>G
 dbSNP
3g.177038362A>TCA355555337TBL1XR1,TBL1XR1-AS1c.998T>A (p.Val333Asp)
c.737T>A (p.Val246Asp)
n.183T>A
c.597T>A
c.1028T>A (p.Val343Asp)
c.1037T>A (p.Val346Asp)
n.341A>T
3g.177038363C>ACA355555338TBL1XR1,TBL1XR1-AS1c.997G>T (p.Val333Phe)
c.736G>T (p.Val246Phe)
n.182G>T
c.596G>T
c.1027G>T (p.Val343Phe)
c.1036G>T (p.Val346Phe)
n.342C>A
 gnomAD v4
3g.177038363C=CA1422663124TBL1XR1,TBL1XR1-AS1c.997G= (p.Val333=)
c.736G= (p.Val246=)
n.182G=
c.596G=
c.1027G= (p.Val343=)
c.1036G= (p.Val346=)
n.342C=
3g.177038363C>GCA355555340TBL1XR1,TBL1XR1-AS1c.997G>C (p.Val333Leu)
c.736G>C (p.Val246Leu)
n.182G>C
c.596G>C
c.1027G>C (p.Val343Leu)
c.1036G>C (p.Val346Leu)
n.342C>G
3g.177038363C>TCA355555339TBL1XR1,TBL1XR1-AS1c.997G>A (p.Val333Ile)
c.736G>A (p.Val246Ile)
n.182G>A
c.596G>A
c.1027G>A (p.Val343Ile)
c.1036G>A (p.Val346Ile)
n.342C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.177038364A>CCA355555341TBL1XR1,TBL1XR1-AS1c.996T>G (p.His332Gln)
c.735T>G (p.His245Gln)
n.181T>G
c.595T>G
c.1026T>G (p.His342Gln)
c.1035T>G (p.His345Gln)
n.343A>C
 gnomAD v4
3g.177038364A>GCA436985920TBL1XR1,TBL1XR1-AS1c.996T>C (p.His332=)
c.735T>C (p.His245=)
n.181T>C
c.595T>C
c.1026T>C (p.His342=)
c.1035T>C (p.His345=)
n.343A>G
3g.177038364A>TCA355555342TBL1XR1,TBL1XR1-AS1c.996T>A (p.His332Gln)
c.735T>A (p.His245Gln)
n.181T>A
c.595T>A
c.1026T>A (p.His342Gln)
c.1035T>A (p.His345Gln)
n.343A>T
3g.177038365T>ACA355555343TBL1XR1,TBL1XR1-AS1c.995A>T (p.His332Leu)
c.734A>T (p.His245Leu)
n.180A>T
c.594A>T
c.1025A>T (p.His342Leu)
c.1034A>T (p.His345Leu)
n.344T>A
3g.177038365T>CCA355555344TBL1XR1,TBL1XR1-AS1c.995A>G (p.His332Arg)
c.734A>G (p.His245Arg)
n.180A>G
c.594A>G
c.1025A>G (p.His342Arg)
c.1034A>G (p.His345Arg)
n.344T>C
 gnomAD v4
3g.177038365T>GCA355555345TBL1XR1,TBL1XR1-AS1c.995A>C (p.His332Pro)
c.734A>C (p.His245Pro)
n.180A>C
c.594A>C
c.1025A>C (p.His342Pro)
c.1034A>C (p.His345Pro)
n.344T>G
3g.177038366G>ACA355555346TBL1XR1,TBL1XR1-AS1c.994C>T (p.His332Tyr)
c.733C>T (p.His245Tyr)
n.179C>T
c.593C>T
c.1024C>T (p.His342Tyr)
c.1033C>T (p.His345Tyr)
n.345G>A
 gnomAD v4
3g.177038366G>CCA355555347TBL1XR1,TBL1XR1-AS1c.994C>G (p.His332Asp)
c.733C>G (p.His245Asp)
n.179C>G
c.593C>G
c.1024C>G (p.His342Asp)
c.1033C>G (p.His345Asp)
n.345G>C
3g.177038366G>TCA355555348TBL1XR1,TBL1XR1-AS1c.994C>A (p.His332Asn)
c.733C>A (p.His245Asn)
n.179C>A
c.593C>A
c.1024C>A (p.His342Asn)
c.1033C>A (p.His345Asn)
n.345G>T
 gnomAD v4
3g.177038366_177038380delCA645526864TBL1XR1,TBL1XR1-AS1c.980_994del (p.Thr327_His332delinsAsn)
c.719_733del (p.Thr240_His245delinsAsn)
n.165_179del
c.579_593del
c.1010_1024del (p.Thr337_His342delinsAsn)
c.1019_1033del (p.Thr340_His345delinsAsn)
n.345_359del
 COSMIC
3g.177038367A>CCA355555349TBL1XR1,TBL1XR1-AS1c.993T>G (p.Ile331Met)
c.732T>G (p.Ile244Met)
n.178T>G
c.592T>G
c.1023T>G (p.Ile341Met)
c.1032T>G (p.Ile344Met)
n.346A>C
3g.177038367A>GCA436985930TBL1XR1,TBL1XR1-AS1c.993T>C (p.Ile331=)
c.732T>C (p.Ile244=)
n.178T>C
c.592T>C
c.1023T>C (p.Ile341=)
c.1032T>C (p.Ile344=)
n.346A>G
 gnomAD v4
3g.177038367A>TCA436985932TBL1XR1,TBL1XR1-AS1c.993T>A (p.Ile331=)
c.732T>A (p.Ile244=)
n.178T>A
c.592T>A
c.1023T>A (p.Ile341=)
c.1032T>A (p.Ile344=)
n.346A>T
3g.177038368A>CCA355555350TBL1XR1,TBL1XR1-AS1c.992T>G (p.Ile331Ser)
c.731T>G (p.Ile244Ser)
n.177T>G
c.591T>G
c.1022T>G (p.Ile341Ser)
c.1031T>G (p.Ile344Ser)
n.347A>C
3g.177038368A>GCA355555351TBL1XR1,TBL1XR1-AS1c.992T>C (p.Ile331Thr)
c.731T>C (p.Ile244Thr)
n.177T>C
c.591T>C
c.1022T>C (p.Ile341Thr)
c.1031T>C (p.Ile344Thr)
n.347A>G
3g.177038368A>TCA355555352TBL1XR1,TBL1XR1-AS1c.992T>A (p.Ile331Asn)
c.731T>A (p.Ile244Asn)
n.177T>A
c.591T>A
c.1022T>A (p.Ile341Asn)
c.1031T>A (p.Ile344Asn)
n.347A>T
3g.177038369T>ACA355555354TBL1XR1,TBL1XR1-AS1c.991A>T (p.Ile331Phe)
c.730A>T (p.Ile244Phe)
n.176A>T
c.590A>T
c.1021A>T (p.Ile341Phe)
c.1030A>T (p.Ile344Phe)
n.348T>A
 ClinVar dbSNP COSMIC
3g.177038369T>CCA355555355TBL1XR1,TBL1XR1-AS1c.991A>G (p.Ile331Val)
c.730A>G (p.Ile244Val)
n.176A>G
c.590A>G
c.1021A>G (p.Ile341Val)
c.1030A>G (p.Ile344Val)
n.348T>C
3g.177038369T>GCA355555353TBL1XR1,TBL1XR1-AS1c.991A>C (p.Ile331Leu)
c.730A>C (p.Ile244Leu)
n.176A>C
c.590A>C
c.1021A>C (p.Ile341Leu)
c.1030A>C (p.Ile344Leu)
n.348T>G
3g.177038369T=CA1422663125TBL1XR1,TBL1XR1-AS1c.991A= (p.Ile331=)
c.730A= (p.Ile244=)
n.176A=
c.590A=
c.1021A= (p.Ile341=)
c.1030A= (p.Ile344=)
n.348T=
3g.177038370G>ACA436985944TBL1XR1,TBL1XR1-AS1c.990C>T (p.Cys330=)
c.729C>T (p.Cys243=)
n.175C>T
c.589C>T
c.1020C>T (p.Cys340=)
c.1029C>T (p.Cys343=)
n.349G>A
 dbSNP gnomAD v4
3g.177038370G>CCA355555356TBL1XR1,TBL1XR1-AS1c.990C>G (p.Cys330Trp)
c.729C>G (p.Cys243Trp)
n.175C>G
c.589C>G
c.1020C>G (p.Cys340Trp)
c.1029C>G (p.Cys343Trp)
n.349G>C
3g.177038370G=CA1422663126TBL1XR1,TBL1XR1-AS1c.990C= (p.Cys330=)
c.729C= (p.Cys243=)
n.175C=
c.589C=
c.1020C= (p.Cys340=)
c.1029C= (p.Cys343=)
n.349G=
3g.177038370G>TCA355555357TBL1XR1,TBL1XR1-AS1c.990C>A (p.Cys330Ter)
c.729C>A (p.Cys243Ter)
n.175C>A
c.589C>A
c.1020C>A (p.Cys340Ter)
c.1029C>A (p.Cys343Ter)
n.349G>T
 gnomAD v4
3g.177038371C>ACA355555358TBL1XR1,TBL1XR1-AS1c.989G>T (p.Cys330Phe)
c.728G>T (p.Cys243Phe)
n.174G>T
c.588G>T
c.1019G>T (p.Cys340Phe)
c.1028G>T (p.Cys343Phe)
n.350C>A
3g.177038371C>GCA355555359TBL1XR1,TBL1XR1-AS1c.989G>C (p.Cys330Ser)
c.728G>C (p.Cys243Ser)
n.174G>C
c.588G>C
c.1019G>C (p.Cys340Ser)
c.1028G>C (p.Cys343Ser)
n.350C>G
3g.177038371C>TCA355555360TBL1XR1,TBL1XR1-AS1c.989G>A (p.Cys330Tyr)
c.728G>A (p.Cys243Tyr)
n.174G>A
c.588G>A
c.1019G>A (p.Cys340Tyr)
c.1028G>A (p.Cys343Tyr)
n.350C>T
 gnomAD v4
3g.177038372A>CCA355555361TBL1XR1,TBL1XR1-AS1c.988T>G (p.Cys330Gly)
c.727T>G (p.Cys243Gly)
n.173T>G
c.587T>G
c.1018T>G (p.Cys340Gly)
c.1027T>G (p.Cys343Gly)
n.351A>C
3g.177038372A>GCA355555362TBL1XR1,TBL1XR1-AS1c.988T>C (p.Cys330Arg)
c.727T>C (p.Cys243Arg)
n.173T>C
c.587T>C
c.1018T>C (p.Cys340Arg)
c.1027T>C (p.Cys343Arg)
n.351A>G
 gnomAD v4
3g.177038372A>TCA355555363TBL1XR1,TBL1XR1-AS1c.988T>A (p.Cys330Ser)
c.727T>A (p.Cys243Ser)
n.173T>A
c.587T>A
c.1018T>A (p.Cys340Ser)
c.1027T>A (p.Cys343Ser)
n.351A>T
3g.177038373C>ACA355555364TBL1XR1,TBL1XR1-AS1c.987G>T (p.Met329Ile)
c.726G>T (p.Met242Ile)
n.172G>T
c.586G>T
c.1017G>T (p.Met339Ile)
c.1026G>T (p.Met342Ile)
n.352C>A
 gnomAD v3 gnomAD v4
3g.177038373C=CA1422663127TBL1XR1,TBL1XR1-AS1c.987G= (p.Met329=)
c.726G= (p.Met242=)
n.172G=
c.586G=
c.1017G= (p.Met339=)
c.1026G= (p.Met342=)
n.352C=
3g.177038373C>GCA355555365TBL1XR1,TBL1XR1-AS1c.987G>C (p.Met329Ile)
c.726G>C (p.Met242Ile)
n.172G>C
c.586G>C
c.1017G>C (p.Met339Ile)
c.1026G>C (p.Met342Ile)
n.352C>G
3g.177038373C>TCA16604489TBL1XR1,TBL1XR1-AS1c.987G>A (p.Met329Ile)
c.726G>A (p.Met242Ile)
n.172G>A
c.586G>A
c.1017G>A (p.Met339Ile)
c.1026G>A (p.Met342Ile)
n.352C>T
 ClinVar dbSNP
3g.177038374A>CCA355555366TBL1XR1,TBL1XR1-AS1c.986T>G (p.Met329Arg)
c.725T>G (p.Met242Arg)
n.171T>G
c.585T>G
c.1016T>G (p.Met339Arg)
c.1025T>G (p.Met342Arg)
n.353A>C
3g.177038374A>GCA355555367TBL1XR1,TBL1XR1-AS1c.986T>C (p.Met329Thr)
c.725T>C (p.Met242Thr)
n.171T>C
c.585T>C
c.1016T>C (p.Met339Thr)
c.1025T>C (p.Met342Thr)
n.353A>G
 gnomAD v4
3g.177038374A>TCA355555368TBL1XR1,TBL1XR1-AS1c.986T>A (p.Met329Lys)
c.725T>A (p.Met242Lys)
n.171T>A
c.585T>A
c.1016T>A (p.Met339Lys)
c.1025T>A (p.Met342Lys)
n.353A>T
3g.177038375T>ACA355555371TBL1XR1,TBL1XR1-AS1c.985A>T (p.Met329Leu)
c.724A>T (p.Met242Leu)
n.170A>T
c.584A>T
c.1015A>T (p.Met339Leu)
c.1024A>T (p.Met342Leu)
n.354T>A
3g.177038375T>CCA355555369TBL1XR1,TBL1XR1-AS1c.985A>G (p.Met329Val)
c.724A>G (p.Met242Val)
n.170A>G
c.584A>G
c.1015A>G (p.Met339Val)
c.1024A>G (p.Met342Val)
n.354T>C
3g.177038375T>GCA355555370TBL1XR1,TBL1XR1-AS1c.985A>C (p.Met329Leu)
c.724A>C (p.Met242Leu)
n.170A>C
c.584A>C
c.1015A>C (p.Met339Leu)
c.1024A>C (p.Met342Leu)
n.354T>G
3g.177038375dupCA2586973233TBL1XR1,TBL1XR1-AS1c.985dup (p.Met329AsnfsTer7)
c.724dup (p.Met242AsnfsTer7)
n.170dup
c.584dup
c.1015dup (p.Met339AsnfsTer7)
c.1024dup (p.Met342AsnfsTer7)
n.354dup
3g.177038376A>CCA355555372TBL1XR1,TBL1XR1-AS1c.984T>G (p.Asp328Glu)
c.723T>G (p.Asp241Glu)
n.169T>G
c.583T>G
c.1014T>G (p.Asp338Glu)
c.1023T>G (p.Asp341Glu)
n.355A>C
3g.177038376A>GCA436985972TBL1XR1,TBL1XR1-AS1c.984T>C (p.Asp328=)
c.723T>C (p.Asp241=)
n.169T>C
c.583T>C
c.1014T>C (p.Asp338=)
c.1023T>C (p.Asp341=)
n.355A>G
3g.177038376A>TCA355555373TBL1XR1,TBL1XR1-AS1c.984T>A (p.Asp328Glu)
c.723T>A (p.Asp241Glu)
n.169T>A
c.583T>A
c.1014T>A (p.Asp338Glu)
c.1023T>A (p.Asp341Glu)
n.355A>T
3g.177038377T>ACA355555374TBL1XR1,TBL1XR1-AS1c.983A>T (p.Asp328Val)
c.722A>T (p.Asp241Val)
n.168A>T
c.582A>T
c.1013A>T (p.Asp338Val)
c.1022A>T (p.Asp341Val)
n.356T>A
3g.177038377T>CCA355555375TBL1XR1,TBL1XR1-AS1c.983A>G (p.Asp328Gly)
c.722A>G (p.Asp241Gly)
n.168A>G
c.582A>G
c.1013A>G (p.Asp338Gly)
c.1022A>G (p.Asp341Gly)
n.356T>C
3g.177038377T>GCA355555376TBL1XR1,TBL1XR1-AS1c.983A>C (p.Asp328Ala)
c.722A>C (p.Asp241Ala)
n.168A>C
c.582A>C
c.1013A>C (p.Asp338Ala)
c.1022A>C (p.Asp341Ala)
n.356T>G
3g.177038378C>ACA355555377TBL1XR1,TBL1XR1-AS1c.982G>T (p.Asp328Tyr)
c.721G>T (p.Asp241Tyr)
n.167G>T
c.581G>T
c.1012G>T (p.Asp338Tyr)
c.1021G>T (p.Asp341Tyr)
n.357C>A
 gnomAD v4
3g.177038378C>GCA355555378TBL1XR1,TBL1XR1-AS1c.982G>C (p.Asp328His)
c.721G>C (p.Asp241His)
n.167G>C
c.581G>C
c.1012G>C (p.Asp338His)
c.1021G>C (p.Asp341His)
n.357C>G
3g.177038378C>TCA355555379TBL1XR1,TBL1XR1-AS1c.982G>A (p.Asp328Asn)
c.721G>A (p.Asp241Asn)
n.167G>A
c.581G>A
c.1012G>A (p.Asp338Asn)
c.1021G>A (p.Asp341Asn)
n.357C>T
 gnomAD v4
3g.177038380_177038384delCA645526865TBL1XR1,TBL1XR1-AS1c.978_982del (p.Ser326ArgfsTer8)
c.717_721del (p.Ser239ArgfsTer8)
n.163_167del
c.577_581del
c.1008_1012del (p.Ser336ArgfsTer8)
c.1017_1021del (p.Ser339ArgfsTer8)
n.359_363del
 COSMIC
3g.177038379T>ACA436985985TBL1XR1,TBL1XR1-AS1c.981A>T (p.Thr327=)
c.720A>T (p.Thr240=)
n.166A>T
c.580A>T
c.1011A>T (p.Thr337=)
c.1020A>T (p.Thr340=)
n.358T>A
3g.177038379T>CCA436985987TBL1XR1,TBL1XR1-AS1c.981A>G (p.Thr327=)
c.720A>G (p.Thr240=)
n.166A>G
c.580A>G
c.1011A>G (p.Thr337=)
c.1020A>G (p.Thr340=)
n.358T>C
 gnomAD v4
3g.177038379T>GCA436985989TBL1XR1,TBL1XR1-AS1c.981A>C (p.Thr327=)
c.720A>C (p.Thr240=)
n.166A>C
c.580A>C
c.1011A>C (p.Thr337=)
c.1020A>C (p.Thr340=)
n.358T>G
3g.177038380G>ACA355555380TBL1XR1,TBL1XR1-AS1c.980C>T (p.Thr327Ile)
c.719C>T (p.Thr240Ile)
n.165C>T
c.579C>T
c.1010C>T (p.Thr337Ile)
c.1019C>T (p.Thr340Ile)
n.359G>A
 gnomAD v4
3g.177038380G>CCA355555381TBL1XR1,TBL1XR1-AS1c.980C>G (p.Thr327Arg)
c.719C>G (p.Thr240Arg)
n.165C>G
c.579C>G
c.1010C>G (p.Thr337Arg)
c.1019C>G (p.Thr340Arg)
n.359G>C
3g.177038380G=CA1422663128TBL1XR1,TBL1XR1-AS1c.980C= (p.Thr327=)
c.719C= (p.Thr240=)
n.165C=
c.579C=
c.1010C= (p.Thr337=)
c.1019C= (p.Thr340=)
n.359G=
3g.177038380G>TCA355555382TBL1XR1,TBL1XR1-AS1c.980C>A (p.Thr327Lys)
c.719C>A (p.Thr240Lys)
n.165C>A
c.579C>A
c.1010C>A (p.Thr337Lys)
c.1019C>A (p.Thr340Lys)
n.359G>T
 dbSNP

Number of alleles fetched