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.177047422_177047427delCA2709888TBL1XR1,TBL1XR1-AS1c.767-23_767-18del (n.767-23_767-18del)
c.506-23_506-18del (n.506-23_506-18del)
c.372-23_372-18del
c.797-23_797-18del (n.797-23_797-18del)
c.806-23_806-18del (n.806-23_806-18del)
n.518-212_518-207del
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.177047426T>ACA548242942TBL1XR1,TBL1XR1-AS1c.767-29A>T (n.767-29A>T)
c.506-29A>T (n.506-29A>T)
c.372-29A>T
c.797-29A>T (n.797-29A>T)
c.806-29A>T (n.806-29A>T)
n.518-208T>A
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.177047426T=CA1422667553TBL1XR1,TBL1XR1-AS1c.767-29A= (n.767-29A=)
c.506-29A= (n.506-29A=)
c.372-29A=
c.797-29A= (n.797-29A=)
c.806-29A= (n.806-29A=)
n.518-208T=
3g.177047429_177047434delinsTTTAAACA1422667554TBL1XR1,TBL1XR1-AS1c.767-37_767-32delinsTTTAAA (n.767-37_767-32delinsTTTAAA)
c.506-37_506-32delinsTTTAAA (n.506-37_506-32delinsTTTAAA)
c.372-37_372-32delinsTTTAAA
c.797-37_797-32delinsTTTAAA (n.797-37_797-32delinsTTTAAA)
c.806-37_806-32delinsTTTAAA (n.806-37_806-32delinsTTTAAA)
n.518-205_518-200delinsTTTAAA
3g.177047432_177047436delCA2709892TBL1XR1,TBL1XR1-AS1c.767-37_767-33del (n.767-37_767-33del)
c.506-37_506-33del (n.506-37_506-33del)
c.372-37_372-33del
c.797-37_797-33del (n.797-37_797-33del)
c.806-37_806-33del (n.806-37_806-33del)
n.518-202_518-198del
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.177047433A=CA1422667555TBL1XR1,TBL1XR1-AS1c.767-36T= (n.767-36T=)
c.506-36T= (n.506-36T=)
c.372-36T=
c.797-36T= (n.797-36T=)
c.806-36T= (n.806-36T=)
n.518-201A=
3g.177047433A>CCA1422667556TBL1XR1,TBL1XR1-AS1c.767-36T>G (n.767-36T>G)
c.506-36T>G (n.506-36T>G)
c.372-36T>G
c.797-36T>G (n.797-36T>G)
c.806-36T>G (n.806-36T>G)
n.518-201A>C
dbSNP
3g.177047440T>CCA2709893TBL1XR1,TBL1XR1-AS1c.767-43A>G (n.767-43A>G)
c.506-43A>G (n.506-43A>G)
c.372-43A>G
c.797-43A>G (n.797-43A>G)
c.806-43A>G (n.806-43A>G)
n.518-194T>C
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.177047440T=CA1422667557TBL1XR1,TBL1XR1-AS1c.767-43A= (n.767-43A=)
c.506-43A= (n.506-43A=)
c.372-43A=
c.797-43A= (n.797-43A=)
c.806-43A= (n.806-43A=)
n.518-194T=
3g.177047441A=CA1422667558TBL1XR1,TBL1XR1-AS1c.767-44T= (n.767-44T=)
c.506-44T= (n.506-44T=)
c.372-44T=
c.797-44T= (n.797-44T=)
c.806-44T= (n.806-44T=)
n.518-193A=
3g.177047441A>TCA1422667559TBL1XR1,TBL1XR1-AS1c.767-44T>A (n.767-44T>A)
c.506-44T>A (n.506-44T>A)
c.372-44T>A
c.797-44T>A (n.797-44T>A)
c.806-44T>A (n.806-44T>A)
n.518-193A>T
dbSNP
3g.177047442T>CCA2668596741TBL1XR1,TBL1XR1-AS1c.767-45A>G (n.767-45A>G)
c.506-45A>G (n.506-45A>G)
c.372-45A>G
c.797-45A>G (n.797-45A>G)
c.806-45A>G (n.806-45A>G)
n.518-192T>C
gnomAD v4
3g.177047443C>ACA2709894TBL1XR1,TBL1XR1-AS1c.766+43G>T (n.766+43G>T)
c.505+43G>T (n.505+43G>T)
c.371+43G>T
c.796+43G>T (n.796+43G>T)
c.805+43G>T (n.805+43G>T)
n.518-191C>A
dbSNP ExAC gnomAD v2 gnomAD v4
3g.177047443C=CA1422667560TBL1XR1,TBL1XR1-AS1c.766+43G= (n.766+43G=)
c.505+43G= (n.505+43G=)
c.371+43G=
c.796+43G= (n.796+43G=)
c.805+43G= (n.805+43G=)
n.518-191C=
3g.177047444T>GCA89088933TBL1XR1,TBL1XR1-AS1c.766+42A>C (n.766+42A>C)
c.505+42A>C (n.505+42A>C)
c.371+42A>C
c.796+42A>C (n.796+42A>C)
c.805+42A>C (n.805+42A>C)
n.518-190T>G
dbSNP
3g.177047444T=CA1422667561TBL1XR1,TBL1XR1-AS1c.766+42A= (n.766+42A=)
c.505+42A= (n.505+42A=)
c.371+42A=
c.796+42A= (n.796+42A=)
c.805+42A= (n.805+42A=)
n.518-190T=
3g.177047445_177047446delCA2704620548TBL1XR1,TBL1XR1-AS1c.766+41_766+42del (n.766+41_766+42del)
c.505+41_505+42del (n.505+41_505+42del)
c.371+41_371+42del
c.796+41_796+42del (n.796+41_796+42del)
c.805+41_805+42del (n.805+41_805+42del)
n.518-189_518-188del
dbSNP
3g.177047445T>ACA548334856TBL1XR1,TBL1XR1-AS1c.766+41A>T (n.766+41A>T)
c.505+41A>T (n.505+41A>T)
c.371+41A>T
c.796+41A>T (n.796+41A>T)
c.805+41A>T (n.805+41A>T)
n.518-189T>A
dbSNP gnomAD v2 gnomAD v4
3g.177047445T>GCA1422667563TBL1XR1,TBL1XR1-AS1c.766+41A>C (n.766+41A>C)
c.505+41A>C (n.505+41A>C)
c.371+41A>C
c.796+41A>C (n.796+41A>C)
c.805+41A>C (n.805+41A>C)
n.518-189T>G
dbSNP
3g.177047445T=CA1422667562TBL1XR1,TBL1XR1-AS1c.766+41A= (n.766+41A=)
c.505+41A= (n.505+41A=)
c.371+41A=
c.796+41A= (n.796+41A=)
c.805+41A= (n.805+41A=)
n.518-189T=
3g.177047446T>CCA2668596742TBL1XR1,TBL1XR1-AS1c.766+40A>G (n.766+40A>G)
c.505+40A>G (n.505+40A>G)
c.371+40A>G
c.796+40A>G (n.796+40A>G)
c.805+40A>G (n.805+40A>G)
n.518-188T>C
gnomAD v4
3g.177047446T=CA1422667564TBL1XR1,TBL1XR1-AS1c.766+40A= (n.766+40A=)
c.505+40A= (n.505+40A=)
c.371+40A=
c.796+40A= (n.796+40A=)
c.805+40A= (n.805+40A=)
n.518-188T=
3g.177047447dupCA2709895TBL1XR1,TBL1XR1-AS1c.766+39dup (n.766+39dup)
c.505+39dup (n.505+39dup)
c.371+39dup
c.796+39dup (n.796+39dup)
c.805+39dup (n.805+39dup)
n.518-187dup
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.177047448G=CA1422667565TBL1XR1,TBL1XR1-AS1c.766+38C= (n.766+38C=)
c.505+38C= (n.505+38C=)
c.371+38C=
c.796+38C= (n.796+38C=)
c.805+38C= (n.805+38C=)
n.518-186G=
3g.177047448G>TCA89088934TBL1XR1,TBL1XR1-AS1c.766+38C>A (n.766+38C>A)
c.505+38C>A (n.505+38C>A)
c.371+38C>A
c.796+38C>A (n.796+38C>A)
c.805+38C>A (n.805+38C>A)
n.518-186G>T
dbSNP gnomAD v2 gnomAD v4 COSMIC
3g.177047450T>CCA89088935TBL1XR1,TBL1XR1-AS1c.766+36A>G (n.766+36A>G)
c.505+36A>G (n.505+36A>G)
c.371+36A>G
c.796+36A>G (n.796+36A>G)
c.805+36A>G (n.805+36A>G)
n.518-184T>C
dbSNP
3g.177047450T=CA1422667566TBL1XR1,TBL1XR1-AS1c.766+36A= (n.766+36A=)
c.505+36A= (n.505+36A=)
c.371+36A=
c.796+36A= (n.796+36A=)
c.805+36A= (n.805+36A=)
n.518-184T=
3g.177047450_177047451insACA2759515826TBL1XR1,TBL1XR1-AS1c.766+35_766+36insT (n.766+35_766+36insT)
c.505+35_505+36insT (n.505+35_505+36insT)
c.371+35_371+36insT
c.796+35_796+36insT (n.796+35_796+36insT)
c.805+35_805+36insT (n.805+35_805+36insT)
n.518-184_518-183insA
3g.177047451C=CA1422667567TBL1XR1,TBL1XR1-AS1c.766+35G= (n.766+35G=)
c.505+35G= (n.505+35G=)
c.371+35G=
c.796+35G= (n.796+35G=)
c.805+35G= (n.805+35G=)
n.518-183C=
3g.177047451C>GCA2709896TBL1XR1,TBL1XR1-AS1c.766+35G>C (n.766+35G>C)
c.505+35G>C (n.505+35G>C)
c.371+35G>C
c.796+35G>C (n.796+35G>C)
c.805+35G>C (n.805+35G>C)
n.518-183C>G
dbSNP ExAC gnomAD v2 gnomAD v4
3g.177047457_177047459delCA2577962587TBL1XR1,TBL1XR1-AS1c.766+33_766+35del (n.766+33_766+35del)
c.505+33_505+35del (n.505+33_505+35del)
c.371+33_371+35del
c.796+33_796+35del (n.796+33_796+35del)
c.805+33_805+35del (n.805+33_805+35del)
n.518-177_518-175del
3g.177047453A=CA1422667568TBL1XR1,TBL1XR1-AS1c.766+33T= (n.766+33T=)
c.505+33T= (n.505+33T=)
c.371+33T=
c.796+33T= (n.796+33T=)
c.805+33T= (n.805+33T=)
n.518-181A=
3g.177047453A>GCA89088936TBL1XR1,TBL1XR1-AS1c.766+33T>C (n.766+33T>C)
c.505+33T>C (n.505+33T>C)
c.371+33T>C
c.796+33T>C (n.796+33T>C)
c.805+33T>C (n.805+33T>C)
n.518-181A>G
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.177047453A>TCA2505213181TBL1XR1,TBL1XR1-AS1c.766+33T>A (n.766+33T>A)
c.505+33T>A (n.505+33T>A)
c.371+33T>A
c.796+33T>A (n.796+33T>A)
c.805+33T>A (n.805+33T>A)
n.518-181A>T
3g.177047457C>ACA1422667570TBL1XR1,TBL1XR1-AS1c.766+29G>T (n.766+29G>T)
c.505+29G>T (n.505+29G>T)
c.371+29G>T
c.796+29G>T (n.796+29G>T)
c.805+29G>T (n.805+29G>T)
n.518-177C>A
dbSNP
3g.177047457C=CA1422667569TBL1XR1,TBL1XR1-AS1c.766+29G= (n.766+29G=)
c.505+29G= (n.505+29G=)
c.371+29G=
c.796+29G= (n.796+29G=)
c.805+29G= (n.805+29G=)
n.518-177C=
3g.177047457C>TCA2577962588TBL1XR1,TBL1XR1-AS1c.766+29G>A (n.766+29G>A)
c.505+29G>A (n.505+29G>A)
c.371+29G>A
c.796+29G>A (n.796+29G>A)
c.805+29G>A (n.805+29G>A)
n.518-177C>T
3g.177047458A=CA1422667571TBL1XR1,TBL1XR1-AS1c.766+28T= (n.766+28T=)
c.505+28T= (n.505+28T=)
c.371+28T=
c.796+28T= (n.796+28T=)
c.805+28T= (n.805+28T=)
n.518-176A=
3g.177047458A>GCA1422667572TBL1XR1,TBL1XR1-AS1c.766+28T>C (n.766+28T>C)
c.505+28T>C (n.505+28T>C)
c.371+28T>C
c.796+28T>C (n.796+28T>C)
c.805+28T>C (n.805+28T>C)
n.518-176A>G
dbSNP gnomAD v4
3g.177047462_177047468delCA2668596743TBL1XR1,TBL1XR1-AS1c.766+22_766+28del (n.766+22_766+28del)
c.505+22_505+28del (n.505+22_505+28del)
c.371+22_371+28del
c.796+22_796+28del (n.796+22_796+28del)
c.805+22_805+28del (n.805+22_805+28del)
n.518-172_518-166del
gnomAD v4
3g.177047458_177047459insCTTCA903092332TBL1XR1,TBL1XR1-AS1c.766+27_766+28insAAG (n.766+27_766+28insAAG)
c.505+27_505+28insAAG (n.505+27_505+28insAAG)
c.371+27_371+28insAAG
c.796+27_796+28insAAG (n.796+27_796+28insAAG)
c.805+27_805+28insAAG (n.805+27_805+28insAAG)
n.518-176_518-175insCTT
dbSNP gnomAD v3 gnomAD v4
3g.177047460A=CA1422667573TBL1XR1,TBL1XR1-AS1c.766+26T= (n.766+26T=)
c.505+26T= (n.505+26T=)
c.371+26T=
c.796+26T= (n.796+26T=)
c.805+26T= (n.805+26T=)
n.518-174A=
3g.177047460A>CCA89088937TBL1XR1,TBL1XR1-AS1c.766+26T>G (n.766+26T>G)
c.505+26T>G (n.505+26T>G)
c.371+26T>G
c.796+26T>G (n.796+26T>G)
c.805+26T>G (n.805+26T>G)
n.518-174A>C
dbSNP gnomAD v2 gnomAD v4
3g.177047461G>ACA548334857TBL1XR1,TBL1XR1-AS1c.766+25C>T (n.766+25C>T)
c.505+25C>T (n.505+25C>T)
c.371+25C>T
c.796+25C>T (n.796+25C>T)
c.805+25C>T (n.805+25C>T)
n.518-173G>A
dbSNP gnomAD v2 gnomAD v4
3g.177047461G=CA1422667574TBL1XR1,TBL1XR1-AS1c.766+25C= (n.766+25C=)
c.505+25C= (n.505+25C=)
c.371+25C=
c.796+25C= (n.796+25C=)
c.805+25C= (n.805+25C=)
n.518-173G=
3g.177047462T>ACA2668596744TBL1XR1,TBL1XR1-AS1c.766+24A>T (n.766+24A>T)
c.505+24A>T (n.505+24A>T)
c.371+24A>T
c.796+24A>T (n.796+24A>T)
c.805+24A>T (n.805+24A>T)
n.518-172T>A
gnomAD v4
3g.177047467delCA2668596745TBL1XR1,TBL1XR1-AS1c.766+23del (n.766+23del)
c.505+23del (n.505+23del)
c.371+23del
c.796+23del (n.796+23del)
c.805+23del (n.805+23del)
n.518-167del
gnomAD v4
3g.177047465A=CA2709897TBL1XR1,TBL1XR1-AS1c.766+21T= (n.766+21T=)
c.505+21T= (n.505+21T=)
c.371+21T=
c.796+21T= (n.796+21T=)
c.805+21T= (n.805+21T=)
n.518-169A=
3g.177047465A>CCA1422667576TBL1XR1,TBL1XR1-AS1c.766+21T>G (n.766+21T>G)
c.505+21T>G (n.505+21T>G)
c.371+21T>G
c.796+21T>G (n.796+21T>G)
c.805+21T>G (n.805+21T>G)
n.518-169A>C
dbSNP
3g.177047465A>GCA89088938TBL1XR1,TBL1XR1-AS1c.766+21T>C (n.766+21T>C)
c.505+21T>C (n.505+21T>C)
c.371+21T>C
c.796+21T>C (n.796+21T>C)
c.805+21T>C (n.805+21T>C)
n.518-169A>G
dbSNP gnomAD v3 gnomAD v4
3g.177047465A>TCA1422667575TBL1XR1,TBL1XR1-AS1c.766+21T>A (n.766+21T>A)
c.505+21T>A (n.505+21T>A)
c.371+21T>A
c.796+21T>A (n.796+21T>A)
c.805+21T>A (n.805+21T>A)
n.518-169A>T
dbSNP
3g.177047468G>ACA2709898TBL1XR1,TBL1XR1-AS1c.766+18C>T (n.766+18C>T)
c.505+18C>T (n.505+18C>T)
c.371+18C>T
c.796+18C>T (n.796+18C>T)
c.805+18C>T (n.805+18C>T)
n.518-166G>A
dbSNP ExAC gnomAD v2 gnomAD v4
3g.177047468G=CA1422667577TBL1XR1,TBL1XR1-AS1c.766+18C= (n.766+18C=)
c.505+18C= (n.505+18C=)
c.371+18C=
c.796+18C= (n.796+18C=)
c.805+18C= (n.805+18C=)
n.518-166G=
3g.177047469G>ACA548334858TBL1XR1,TBL1XR1-AS1c.766+17C>T (n.766+17C>T)
c.505+17C>T (n.505+17C>T)
c.371+17C>T
c.796+17C>T (n.796+17C>T)
c.805+17C>T (n.805+17C>T)
n.518-165G>A
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.177047469G=CA1422667578TBL1XR1,TBL1XR1-AS1c.766+17C= (n.766+17C=)
c.505+17C= (n.505+17C=)
c.371+17C=
c.796+17C= (n.796+17C=)
c.805+17C= (n.805+17C=)
n.518-165G=
3g.177047473delCA2557348495TBL1XR1,TBL1XR1-AS1c.766+16del (n.766+16del)
c.505+16del (n.505+16del)
c.371+16del
c.796+16del (n.796+16del)
c.805+16del (n.805+16del)
n.518-161del
3g.177047473A>GCA2580069133TBL1XR1,TBL1XR1-AS1c.766+13T>C (n.766+13T>C)
c.505+13T>C (n.505+13T>C)
c.371+13T>C
c.796+13T>C (n.796+13T>C)
c.805+13T>C (n.805+13T>C)
n.518-161A>G
ClinVar
3g.177047474T>CCA1422667580TBL1XR1,TBL1XR1-AS1c.766+12A>G (n.766+12A>G)
c.505+12A>G (n.505+12A>G)
c.371+12A>G
c.796+12A>G (n.796+12A>G)
c.805+12A>G (n.805+12A>G)
n.518-160T>C
dbSNP
3g.177047474T=CA1422667579TBL1XR1,TBL1XR1-AS1c.766+12A= (n.766+12A=)
c.505+12A= (n.505+12A=)
c.371+12A=
c.796+12A= (n.796+12A=)
c.805+12A= (n.805+12A=)
n.518-160T=
3g.177047476C=CA1422667581TBL1XR1,TBL1XR1-AS1c.766+10G= (n.766+10G=)
c.505+10G= (n.505+10G=)
c.371+10G=
c.796+10G= (n.796+10G=)
c.805+10G= (n.805+10G=)
n.518-158C=
3g.177047476C>TCA2709899TBL1XR1,TBL1XR1-AS1c.766+10G>A (n.766+10G>A)
c.505+10G>A (n.505+10G>A)
c.371+10G>A
c.796+10G>A (n.796+10G>A)
c.805+10G>A (n.805+10G>A)
n.518-158C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.177047477T>CCA2580069134TBL1XR1,TBL1XR1-AS1c.766+9A>G (n.766+9A>G)
c.505+9A>G (n.505+9A>G)
c.371+9A>G
c.796+9A>G (n.796+9A>G)
c.805+9A>G (n.805+9A>G)
n.518-157T>C
ClinVar
3g.177047479C=CA1422667582TBL1XR1,TBL1XR1-AS1c.766+7G= (n.766+7G=)
c.505+7G= (n.505+7G=)
c.371+7G=
c.796+7G= (n.796+7G=)
c.805+7G= (n.805+7G=)
n.518-155C=
3g.177047479C>TCA548334859TBL1XR1,TBL1XR1-AS1c.766+7G>A (n.766+7G>A)
c.505+7G>A (n.505+7G>A)
c.371+7G>A
c.796+7G>A (n.796+7G>A)
c.805+7G>A (n.805+7G>A)
n.518-155C>T
ClinVar dbSNP gnomAD v2 gnomAD v4
3g.177047481T>ACA548334860TBL1XR1,TBL1XR1-AS1c.766+5A>T (n.766+5A>T)
c.505+5A>T (n.505+5A>T)
c.371+5A>T
c.796+5A>T (n.796+5A>T)
c.805+5A>T (n.805+5A>T)
n.518-153T>A
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.177047481T>CCA2709900TBL1XR1,TBL1XR1-AS1c.766+5A>G (n.766+5A>G)
c.505+5A>G (n.505+5A>G)
c.371+5A>G
c.796+5A>G (n.796+5A>G)
c.805+5A>G (n.805+5A>G)
n.518-153T>C
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.177047481T>GCA2581919062TBL1XR1,TBL1XR1-AS1c.766+5A>C (n.766+5A>C)
c.505+5A>C (n.505+5A>C)
c.371+5A>C
c.796+5A>C (n.796+5A>C)
c.805+5A>C (n.805+5A>C)
n.518-153T>G
3g.177047481T=CA1422667583TBL1XR1,TBL1XR1-AS1c.766+5A= (n.766+5A=)
c.505+5A= (n.505+5A=)
c.371+5A=
c.796+5A= (n.796+5A=)
c.805+5A= (n.805+5A=)
n.518-153T=
3g.177047482T>CCA2577962589TBL1XR1,TBL1XR1-AS1c.766+4A>G (n.766+4A>G)
c.505+4A>G (n.505+4A>G)
c.371+4A>G
c.796+4A>G (n.796+4A>G)
c.805+4A>G (n.805+4A>G)
n.518-152T>C
gnomAD v4
3g.177047484A>CCA355552211TBL1XR1,TBL1XR1-AS1c.766+2T>G (n.766+2T>G)
c.505+2T>G (n.505+2T>G)
c.371+2T>G
c.796+2T>G (n.796+2T>G)
c.805+2T>G (n.805+2T>G)
n.518-150A>C
3g.177047484A>GCA355552212TBL1XR1,TBL1XR1-AS1c.766+2T>C (n.766+2T>C)
c.505+2T>C (n.505+2T>C)
c.371+2T>C
c.796+2T>C (n.796+2T>C)
c.805+2T>C (n.805+2T>C)
n.518-150A>G
3g.177047484A>TCA355552213TBL1XR1,TBL1XR1-AS1c.766+2T>A (n.766+2T>A)
c.505+2T>A (n.505+2T>A)
c.371+2T>A
c.796+2T>A (n.796+2T>A)
c.805+2T>A (n.805+2T>A)
n.518-150A>T
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

Number of alleles fetched