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.177047398C>ACA355552205TBL1XR1,TBL1XR1-AS1c.767-1G>T (n.767-1G>T)
c.506-1G>T (n.506-1G>T)
c.372-1G>T
c.797-1G>T (n.797-1G>T)
c.806-1G>T (n.806-1G>T)
n.518-236C>A
 gnomAD v4
3g.177047398C>GCA355552206TBL1XR1,TBL1XR1-AS1c.767-1G>C (n.767-1G>C)
c.506-1G>C (n.506-1G>C)
c.372-1G>C
c.797-1G>C (n.797-1G>C)
c.806-1G>C (n.806-1G>C)
n.518-236C>G
3g.177047398C>TCA355552207TBL1XR1,TBL1XR1-AS1c.767-1G>A (n.767-1G>A)
c.506-1G>A (n.506-1G>A)
c.372-1G>A
c.797-1G>A (n.797-1G>A)
c.806-1G>A (n.806-1G>A)
n.518-236C>T
3g.177047399T>ACA355552208TBL1XR1,TBL1XR1-AS1c.767-2A>T (n.767-2A>T)
c.506-2A>T (n.506-2A>T)
c.372-2A>T
c.797-2A>T (n.797-2A>T)
c.806-2A>T (n.806-2A>T)
n.518-235T>A
3g.177047399T>CCA355552209TBL1XR1,TBL1XR1-AS1c.767-2A>G (n.767-2A>G)
c.506-2A>G (n.506-2A>G)
c.372-2A>G
c.797-2A>G (n.797-2A>G)
c.806-2A>G (n.806-2A>G)
n.518-235T>C
3g.177047399T>GCA355552210TBL1XR1,TBL1XR1-AS1c.767-2A>C (n.767-2A>C)
c.506-2A>C (n.506-2A>C)
c.372-2A>C
c.797-2A>C (n.797-2A>C)
c.806-2A>C (n.806-2A>C)
n.518-235T>G
3g.177047401A=CA1422667536TBL1XR1,TBL1XR1-AS1c.767-4T= (n.767-4T=)
c.506-4T= (n.506-4T=)
c.372-4T=
c.797-4T= (n.797-4T=)
c.806-4T= (n.806-4T=)
n.518-233A=
3g.177047401A>CCA1422667537TBL1XR1,TBL1XR1-AS1c.767-4T>G (n.767-4T>G)
c.506-4T>G (n.506-4T>G)
c.372-4T>G
c.797-4T>G (n.797-4T>G)
c.806-4T>G (n.806-4T>G)
n.518-233A>C
 dbSNP
3g.177047403A>GCA2668596738TBL1XR1,TBL1XR1-AS1c.767-6T>C (n.767-6T>C)
c.506-6T>C (n.506-6T>C)
c.372-6T>C
c.797-6T>C (n.797-6T>C)
c.806-6T>C (n.806-6T>C)
n.518-231A>G
 gnomAD v4
3g.177047404T>CCA89088931TBL1XR1,TBL1XR1-AS1c.767-7A>G (n.767-7A>G)
c.506-7A>G (n.506-7A>G)
c.372-7A>G
c.797-7A>G (n.797-7A>G)
c.806-7A>G (n.806-7A>G)
n.518-230T>C
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.177047404T=CA1422667538TBL1XR1,TBL1XR1-AS1c.767-7A= (n.767-7A=)
c.506-7A= (n.506-7A=)
c.372-7A=
c.797-7A= (n.797-7A=)
c.806-7A= (n.806-7A=)
n.518-230T=
3g.177047404_177047405delCA2759515821TBL1XR1,TBL1XR1-AS1c.767-8_767-7del (n.767-8_767-7del)
c.506-8_506-7del (n.506-8_506-7del)
c.372-8_372-7del
c.797-8_797-7del (n.797-8_797-7del)
c.806-8_806-7del (n.806-8_806-7del)
n.518-230_518-229del
3g.177047406C>TCA2580069132TBL1XR1,TBL1XR1-AS1c.767-9G>A (n.767-9G>A)
c.506-9G>A (n.506-9G>A)
c.372-9G>A
c.797-9G>A (n.797-9G>A)
c.806-9G>A (n.806-9G>A)
n.518-228C>T
 ClinVar
3g.177047407A=CA1422667539TBL1XR1,TBL1XR1-AS1c.767-10T= (n.767-10T=)
c.506-10T= (n.506-10T=)
c.372-10T=
c.797-10T= (n.797-10T=)
c.806-10T= (n.806-10T=)
n.518-227A=
3g.177047407A>GCA2709887TBL1XR1,TBL1XR1-AS1c.767-10T>C (n.767-10T>C)
c.506-10T>C (n.506-10T>C)
c.372-10T>C
c.797-10T>C (n.797-10T>C)
c.806-10T>C (n.806-10T>C)
n.518-227A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.177047410A>GCA2668596739TBL1XR1,TBL1XR1-AS1c.767-13T>C (n.767-13T>C)
c.506-13T>C (n.506-13T>C)
c.372-13T>C
c.797-13T>C (n.797-13T>C)
c.806-13T>C (n.806-13T>C)
n.518-224A>G
 gnomAD v4
3g.177047411G>ACA903092282TBL1XR1,TBL1XR1-AS1c.767-14C>T (n.767-14C>T)
c.506-14C>T (n.506-14C>T)
c.372-14C>T
c.797-14C>T (n.797-14C>T)
c.806-14C>T (n.806-14C>T)
n.518-223G>A
 dbSNP gnomAD v3 gnomAD v4
3g.177047411G>CCA2759515822TBL1XR1,TBL1XR1-AS1c.767-14C>G (n.767-14C>G)
c.506-14C>G (n.506-14C>G)
c.372-14C>G
c.797-14C>G (n.797-14C>G)
c.806-14C>G (n.806-14C>G)
n.518-223G>C
3g.177047411G=CA1422667540TBL1XR1,TBL1XR1-AS1c.767-14C= (n.767-14C=)
c.506-14C= (n.506-14C=)
c.372-14C=
c.797-14C= (n.797-14C=)
c.806-14C= (n.806-14C=)
n.518-223G=
3g.177047412A=CA1422667541TBL1XR1,TBL1XR1-AS1c.767-15T= (n.767-15T=)
c.506-15T= (n.506-15T=)
c.372-15T=
c.797-15T= (n.797-15T=)
c.806-15T= (n.806-15T=)
n.518-222A=
3g.177047412A>GCA548242939TBL1XR1,TBL1XR1-AS1c.767-15T>C (n.767-15T>C)
c.506-15T>C (n.506-15T>C)
c.372-15T>C
c.797-15T>C (n.797-15T>C)
c.806-15T>C (n.806-15T>C)
n.518-222A>G
 dbSNP gnomAD v2 gnomAD v4
3g.177047414_177047420delinsAAACATTCA1422667542TBL1XR1,TBL1XR1-AS1c.767-23_767-17delinsAATGTTT (n.767-23_767-17delinsAATGTTT)
c.506-23_506-17delinsAATGTTT (n.506-23_506-17delinsAATGTTT)
c.372-23_372-17delinsAATGTTT
c.797-23_797-17delinsAATGTTT (n.797-23_797-17delinsAATGTTT)
c.806-23_806-17delinsAATGTTT (n.806-23_806-17delinsAATGTTT)
n.518-220_518-214delinsAAACATT
3g.177047415A=CA1422667543TBL1XR1,TBL1XR1-AS1c.767-18T= (n.767-18T=)
c.506-18T= (n.506-18T=)
c.372-18T=
c.797-18T= (n.797-18T=)
c.806-18T= (n.806-18T=)
n.518-219A=
3g.177047415A>GCA903092284TBL1XR1,TBL1XR1-AS1c.767-18T>C (n.767-18T>C)
c.506-18T>C (n.506-18T>C)
c.372-18T>C
c.797-18T>C (n.797-18T>C)
c.806-18T>C (n.806-18T>C)
n.518-219A>G
 dbSNP
3g.177047422_177047427delCA2709888TBL1XR1,TBL1XR1-AS1c.767-23_767-18del (n.767-23_767-18del)
c.506-23_506-18del (n.506-23_506-18del)
c.372-23_372-18del
c.797-23_797-18del (n.797-23_797-18del)
c.806-23_806-18del (n.806-23_806-18del)
n.518-212_518-207del
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.177047415_177047416insCCAAACACACCCAACCA2759515825TBL1XR1,TBL1XR1-AS1c.767-19_767-18insGTTGGGTGTGTTTGG (n.767-19_767-18insGTTGGGTGTGTTTGG)
c.506-19_506-18insGTTGGGTGTGTTTGG (n.506-19_506-18insGTTGGGTGTGTTTGG)
c.372-19_372-18insGTTGGGTGTGTTTGG
c.797-19_797-18insGTTGGGTGTGTTTGG (n.797-19_797-18insGTTGGGTGTGTTTGG)
c.806-19_806-18insGTTGGGTGTGTTTGG (n.806-19_806-18insGTTGGGTGTGTTTGG)
n.518-219_518-218insCCAAACACACCCAAC
3g.177047417_177047418insCAAACACACCCAACACCA2759515823TBL1XR1,TBL1XR1-AS1c.767-19_767-18insGTTGGGTGTGTTTGGT (n.767-19_767-18insGTTGGGTGTGTTTGGT)
c.506-19_506-18insGTTGGGTGTGTTTGGT (n.506-19_506-18insGTTGGGTGTGTTTGGT)
c.372-19_372-18insGTTGGGTGTGTTTGGT
c.797-19_797-18insGTTGGGTGTGTTTGGT (n.797-19_797-18insGTTGGGTGTGTTTGGT)
c.806-19_806-18insGTTGGGTGTGTTTGGT (n.806-19_806-18insGTTGGGTGTGTTTGGT)
n.518-217_518-216insCAAACACACCCAACAC
3g.177047417_177047418insCCAAACACACCCAACACCA2759515824TBL1XR1,TBL1XR1-AS1c.767-19_767-18insGTTGGGTGTGTTTGGGT (n.767-19_767-18insGTTGGGTGTGTTTGGGT)
c.506-19_506-18insGTTGGGTGTGTTTGGGT (n.506-19_506-18insGTTGGGTGTGTTTGGGT)
c.372-19_372-18insGTTGGGTGTGTTTGGGT
c.797-19_797-18insGTTGGGTGTGTTTGGGT (n.797-19_797-18insGTTGGGTGTGTTTGGGT)
c.806-19_806-18insGTTGGGTGTGTTTGGGT (n.806-19_806-18insGTTGGGTGTGTTTGGGT)
n.518-217_518-216insCCAAACACACCCAACAC
3g.177047417C=CA1422667544TBL1XR1,TBL1XR1-AS1c.767-20G= (n.767-20G=)
c.506-20G= (n.506-20G=)
c.372-20G=
c.797-20G= (n.797-20G=)
c.806-20G= (n.806-20G=)
n.518-217C=
3g.177047417C>TCA2709889TBL1XR1,TBL1XR1-AS1c.767-20G>A (n.767-20G>A)
c.506-20G>A (n.506-20G>A)
c.372-20G>A
c.797-20G>A (n.797-20G>A)
c.806-20G>A (n.806-20G>A)
n.518-217C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.177047418A=CA1422667545TBL1XR1,TBL1XR1-AS1c.767-21T= (n.767-21T=)
c.506-21T= (n.506-21T=)
c.372-21T=
c.797-21T= (n.797-21T=)
c.806-21T= (n.806-21T=)
n.518-216A=
3g.177047418A>GCA903092291TBL1XR1,TBL1XR1-AS1c.767-21T>C (n.767-21T>C)
c.506-21T>C (n.506-21T>C)
c.372-21T>C
c.797-21T>C (n.797-21T>C)
c.806-21T>C (n.806-21T>C)
n.518-216A>G
 dbSNP
3g.177047419T>CCA903092298TBL1XR1,TBL1XR1-AS1c.767-22A>G (n.767-22A>G)
c.506-22A>G (n.506-22A>G)
c.372-22A>G
c.797-22A>G (n.797-22A>G)
c.806-22A>G (n.806-22A>G)
n.518-215T>C
 dbSNP gnomAD v4
3g.177047419T>GCA2668596740TBL1XR1,TBL1XR1-AS1c.767-22A>C (n.767-22A>C)
c.506-22A>C (n.506-22A>C)
c.372-22A>C
c.797-22A>C (n.797-22A>C)
c.806-22A>C (n.806-22A>C)
n.518-215T>G
 gnomAD v4
3g.177047419T=CA1422667546TBL1XR1,TBL1XR1-AS1c.767-22A= (n.767-22A=)
c.506-22A= (n.506-22A=)
c.372-22A=
c.797-22A= (n.797-22A=)
c.806-22A= (n.806-22A=)
n.518-215T=
3g.177047420T>CCA903092301TBL1XR1,TBL1XR1-AS1c.767-23A>G (n.767-23A>G)
c.506-23A>G (n.506-23A>G)
c.372-23A>G
c.797-23A>G (n.797-23A>G)
c.806-23A>G (n.806-23A>G)
n.518-214T>C
 dbSNP gnomAD v3 gnomAD v4
3g.177047420T=CA1422667548TBL1XR1,TBL1XR1-AS1c.767-23A= (n.767-23A=)
c.506-23A= (n.506-23A=)
c.372-23A=
c.797-23A= (n.797-23A=)
c.806-23A= (n.806-23A=)
n.518-214T=
3g.177047420_177047423delinsTAACCA1422667547TBL1XR1,TBL1XR1-AS1c.767-26_767-23delinsGTTA (n.767-26_767-23delinsGTTA)
c.506-26_506-23delinsGTTA (n.506-26_506-23delinsGTTA)
c.372-26_372-23delinsGTTA
c.797-26_797-23delinsGTTA (n.797-26_797-23delinsGTTA)
c.806-26_806-23delinsGTTA (n.806-26_806-23delinsGTTA)
n.518-214_518-211delinsTAAC
3g.177047421A=CA1422667549TBL1XR1,TBL1XR1-AS1c.767-24T= (n.767-24T=)
c.506-24T= (n.506-24T=)
c.372-24T=
c.797-24T= (n.797-24T=)
c.806-24T= (n.806-24T=)
n.518-213A=
3g.177047421A>CCA548242940TBL1XR1,TBL1XR1-AS1c.767-24T>G (n.767-24T>G)
c.506-24T>G (n.506-24T>G)
c.372-24T>G
c.797-24T>G (n.797-24T>G)
c.806-24T>G (n.806-24T>G)
n.518-213A>C
 dbSNP gnomAD v2 gnomAD v4
3g.177047422_177047424delCA2709890TBL1XR1,TBL1XR1-AS1c.767-26_767-24del (n.767-26_767-24del)
c.506-26_506-24del (n.506-26_506-24del)
c.372-26_372-24del
c.797-26_797-24del (n.797-26_797-24del)
c.806-26_806-24del (n.806-26_806-24del)
n.518-212_518-210del
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.177047422A=CA1422667550TBL1XR1,TBL1XR1-AS1c.767-25T= (n.767-25T=)
c.506-25T= (n.506-25T=)
c.372-25T=
c.797-25T= (n.797-25T=)
c.806-25T= (n.806-25T=)
n.518-212A=
3g.177047422A>TCA2709891TBL1XR1,TBL1XR1-AS1c.767-25T>A (n.767-25T>A)
c.506-25T>A (n.506-25T>A)
c.372-25T>A
c.797-25T>A (n.797-25T>A)
c.806-25T>A (n.806-25T>A)
n.518-212A>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.177047423C>ACA89088932TBL1XR1,TBL1XR1-AS1c.767-26G>T (n.767-26G>T)
c.506-26G>T (n.506-26G>T)
c.372-26G>T
c.797-26G>T (n.797-26G>T)
c.806-26G>T (n.806-26G>T)
n.518-211C>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.177047423C=CA1422667551TBL1XR1,TBL1XR1-AS1c.767-26G= (n.767-26G=)
c.506-26G= (n.506-26G=)
c.372-26G=
c.797-26G= (n.797-26G=)
c.806-26G= (n.806-26G=)
n.518-211C=
3g.177047424A=CA1422667552TBL1XR1,TBL1XR1-AS1c.767-27T= (n.767-27T=)
c.506-27T= (n.506-27T=)
c.372-27T=
c.797-27T= (n.797-27T=)
c.806-27T= (n.806-27T=)
n.518-210A=
3g.177047424A>GCA548242941TBL1XR1,TBL1XR1-AS1c.767-27T>C (n.767-27T>C)
c.506-27T>C (n.506-27T>C)
c.372-27T>C
c.797-27T>C (n.797-27T>C)
c.806-27T>C (n.806-27T>C)
n.518-210A>G
 dbSNP gnomAD v2 gnomAD v4
3g.177047426T>ACA548242942TBL1XR1,TBL1XR1-AS1c.767-29A>T (n.767-29A>T)
c.506-29A>T (n.506-29A>T)
c.372-29A>T
c.797-29A>T (n.797-29A>T)
c.806-29A>T (n.806-29A>T)
n.518-208T>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.177047426T=CA1422667553TBL1XR1,TBL1XR1-AS1c.767-29A= (n.767-29A=)
c.506-29A= (n.506-29A=)
c.372-29A=
c.797-29A= (n.797-29A=)
c.806-29A= (n.806-29A=)
n.518-208T=
3g.177047429_177047434delinsTTTAAACA1422667554TBL1XR1,TBL1XR1-AS1c.767-37_767-32delinsTTTAAA (n.767-37_767-32delinsTTTAAA)
c.506-37_506-32delinsTTTAAA (n.506-37_506-32delinsTTTAAA)
c.372-37_372-32delinsTTTAAA
c.797-37_797-32delinsTTTAAA (n.797-37_797-32delinsTTTAAA)
c.806-37_806-32delinsTTTAAA (n.806-37_806-32delinsTTTAAA)
n.518-205_518-200delinsTTTAAA
3g.177047432_177047436delCA2709892TBL1XR1,TBL1XR1-AS1c.767-37_767-33del (n.767-37_767-33del)
c.506-37_506-33del (n.506-37_506-33del)
c.372-37_372-33del
c.797-37_797-33del (n.797-37_797-33del)
c.806-37_806-33del (n.806-37_806-33del)
n.518-202_518-198del
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.177047433A=CA1422667555TBL1XR1,TBL1XR1-AS1c.767-36T= (n.767-36T=)
c.506-36T= (n.506-36T=)
c.372-36T=
c.797-36T= (n.797-36T=)
c.806-36T= (n.806-36T=)
n.518-201A=
3g.177047433A>CCA1422667556TBL1XR1,TBL1XR1-AS1c.767-36T>G (n.767-36T>G)
c.506-36T>G (n.506-36T>G)
c.372-36T>G
c.797-36T>G (n.797-36T>G)
c.806-36T>G (n.806-36T>G)
n.518-201A>C
 dbSNP
3g.177047440T>CCA2709893TBL1XR1,TBL1XR1-AS1c.767-43A>G (n.767-43A>G)
c.506-43A>G (n.506-43A>G)
c.372-43A>G
c.797-43A>G (n.797-43A>G)
c.806-43A>G (n.806-43A>G)
n.518-194T>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.177047440T=CA1422667557TBL1XR1,TBL1XR1-AS1c.767-43A= (n.767-43A=)
c.506-43A= (n.506-43A=)
c.372-43A=
c.797-43A= (n.797-43A=)
c.806-43A= (n.806-43A=)
n.518-194T=
3g.177047441A=CA1422667558TBL1XR1,TBL1XR1-AS1c.767-44T= (n.767-44T=)
c.506-44T= (n.506-44T=)
c.372-44T=
c.797-44T= (n.797-44T=)
c.806-44T= (n.806-44T=)
n.518-193A=
3g.177047441A>TCA1422667559TBL1XR1,TBL1XR1-AS1c.767-44T>A (n.767-44T>A)
c.506-44T>A (n.506-44T>A)
c.372-44T>A
c.797-44T>A (n.797-44T>A)
c.806-44T>A (n.806-44T>A)
n.518-193A>T
 dbSNP
3g.177047442T>CCA2668596741TBL1XR1,TBL1XR1-AS1c.767-45A>G (n.767-45A>G)
c.506-45A>G (n.506-45A>G)
c.372-45A>G
c.797-45A>G (n.797-45A>G)
c.806-45A>G (n.806-45A>G)
n.518-192T>C
 gnomAD v4
3g.177047443C>ACA2709894TBL1XR1,TBL1XR1-AS1c.766+43G>T (n.766+43G>T)
c.505+43G>T (n.505+43G>T)
c.371+43G>T
c.796+43G>T (n.796+43G>T)
c.805+43G>T (n.805+43G>T)
n.518-191C>A
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.177047443C=CA1422667560TBL1XR1,TBL1XR1-AS1c.766+43G= (n.766+43G=)
c.505+43G= (n.505+43G=)
c.371+43G=
c.796+43G= (n.796+43G=)
c.805+43G= (n.805+43G=)
n.518-191C=
3g.177047444T>GCA89088933TBL1XR1,TBL1XR1-AS1c.766+42A>C (n.766+42A>C)
c.505+42A>C (n.505+42A>C)
c.371+42A>C
c.796+42A>C (n.796+42A>C)
c.805+42A>C (n.805+42A>C)
n.518-190T>G
 dbSNP
3g.177047444T=CA1422667561TBL1XR1,TBL1XR1-AS1c.766+42A= (n.766+42A=)
c.505+42A= (n.505+42A=)
c.371+42A=
c.796+42A= (n.796+42A=)
c.805+42A= (n.805+42A=)
n.518-190T=
3g.177047445_177047446delCA2704620548TBL1XR1,TBL1XR1-AS1c.766+41_766+42del (n.766+41_766+42del)
c.505+41_505+42del (n.505+41_505+42del)
c.371+41_371+42del
c.796+41_796+42del (n.796+41_796+42del)
c.805+41_805+42del (n.805+41_805+42del)
n.518-189_518-188del
 dbSNP
3g.177047445T>ACA548334856TBL1XR1,TBL1XR1-AS1c.766+41A>T (n.766+41A>T)
c.505+41A>T (n.505+41A>T)
c.371+41A>T
c.796+41A>T (n.796+41A>T)
c.805+41A>T (n.805+41A>T)
n.518-189T>A
 dbSNP gnomAD v2 gnomAD v4
3g.177047445T>GCA1422667563TBL1XR1,TBL1XR1-AS1c.766+41A>C (n.766+41A>C)
c.505+41A>C (n.505+41A>C)
c.371+41A>C
c.796+41A>C (n.796+41A>C)
c.805+41A>C (n.805+41A>C)
n.518-189T>G
 dbSNP
3g.177047445T=CA1422667562TBL1XR1,TBL1XR1-AS1c.766+41A= (n.766+41A=)
c.505+41A= (n.505+41A=)
c.371+41A=
c.796+41A= (n.796+41A=)
c.805+41A= (n.805+41A=)
n.518-189T=
3g.177047446T>CCA2668596742TBL1XR1,TBL1XR1-AS1c.766+40A>G (n.766+40A>G)
c.505+40A>G (n.505+40A>G)
c.371+40A>G
c.796+40A>G (n.796+40A>G)
c.805+40A>G (n.805+40A>G)
n.518-188T>C
 gnomAD v4
3g.177047446T=CA1422667564TBL1XR1,TBL1XR1-AS1c.766+40A= (n.766+40A=)
c.505+40A= (n.505+40A=)
c.371+40A=
c.796+40A= (n.796+40A=)
c.805+40A= (n.805+40A=)
n.518-188T=
3g.177047447dupCA2709895TBL1XR1,TBL1XR1-AS1c.766+39dup (n.766+39dup)
c.505+39dup (n.505+39dup)
c.371+39dup
c.796+39dup (n.796+39dup)
c.805+39dup (n.805+39dup)
n.518-187dup
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.177047448G=CA1422667565TBL1XR1,TBL1XR1-AS1c.766+38C= (n.766+38C=)
c.505+38C= (n.505+38C=)
c.371+38C=
c.796+38C= (n.796+38C=)
c.805+38C= (n.805+38C=)
n.518-186G=
3g.177047448G>TCA89088934TBL1XR1,TBL1XR1-AS1c.766+38C>A (n.766+38C>A)
c.505+38C>A (n.505+38C>A)
c.371+38C>A
c.796+38C>A (n.796+38C>A)
c.805+38C>A (n.805+38C>A)
n.518-186G>T
 dbSNP gnomAD v2 gnomAD v4 COSMIC
3g.177047450T>CCA89088935TBL1XR1,TBL1XR1-AS1c.766+36A>G (n.766+36A>G)
c.505+36A>G (n.505+36A>G)
c.371+36A>G
c.796+36A>G (n.796+36A>G)
c.805+36A>G (n.805+36A>G)
n.518-184T>C
 dbSNP
3g.177047450T=CA1422667566TBL1XR1,TBL1XR1-AS1c.766+36A= (n.766+36A=)
c.505+36A= (n.505+36A=)
c.371+36A=
c.796+36A= (n.796+36A=)
c.805+36A= (n.805+36A=)
n.518-184T=
3g.177047450_177047451insACA2759515826TBL1XR1,TBL1XR1-AS1c.766+35_766+36insT (n.766+35_766+36insT)
c.505+35_505+36insT (n.505+35_505+36insT)
c.371+35_371+36insT
c.796+35_796+36insT (n.796+35_796+36insT)
c.805+35_805+36insT (n.805+35_805+36insT)
n.518-184_518-183insA
3g.177047451C=CA1422667567TBL1XR1,TBL1XR1-AS1c.766+35G= (n.766+35G=)
c.505+35G= (n.505+35G=)
c.371+35G=
c.796+35G= (n.796+35G=)
c.805+35G= (n.805+35G=)
n.518-183C=
3g.177047451C>GCA2709896TBL1XR1,TBL1XR1-AS1c.766+35G>C (n.766+35G>C)
c.505+35G>C (n.505+35G>C)
c.371+35G>C
c.796+35G>C (n.796+35G>C)
c.805+35G>C (n.805+35G>C)
n.518-183C>G
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.177047457_177047459delCA2577962587TBL1XR1,TBL1XR1-AS1c.766+33_766+35del (n.766+33_766+35del)
c.505+33_505+35del (n.505+33_505+35del)
c.371+33_371+35del
c.796+33_796+35del (n.796+33_796+35del)
c.805+33_805+35del (n.805+33_805+35del)
n.518-177_518-175del
3g.177047453A=CA1422667568TBL1XR1,TBL1XR1-AS1c.766+33T= (n.766+33T=)
c.505+33T= (n.505+33T=)
c.371+33T=
c.796+33T= (n.796+33T=)
c.805+33T= (n.805+33T=)
n.518-181A=
3g.177047453A>GCA89088936TBL1XR1,TBL1XR1-AS1c.766+33T>C (n.766+33T>C)
c.505+33T>C (n.505+33T>C)
c.371+33T>C
c.796+33T>C (n.796+33T>C)
c.805+33T>C (n.805+33T>C)
n.518-181A>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.177047453A>TCA2505213181TBL1XR1,TBL1XR1-AS1c.766+33T>A (n.766+33T>A)
c.505+33T>A (n.505+33T>A)
c.371+33T>A
c.796+33T>A (n.796+33T>A)
c.805+33T>A (n.805+33T>A)
n.518-181A>T
3g.177047457C>ACA1422667570TBL1XR1,TBL1XR1-AS1c.766+29G>T (n.766+29G>T)
c.505+29G>T (n.505+29G>T)
c.371+29G>T
c.796+29G>T (n.796+29G>T)
c.805+29G>T (n.805+29G>T)
n.518-177C>A
 dbSNP
3g.177047457C=CA1422667569TBL1XR1,TBL1XR1-AS1c.766+29G= (n.766+29G=)
c.505+29G= (n.505+29G=)
c.371+29G=
c.796+29G= (n.796+29G=)
c.805+29G= (n.805+29G=)
n.518-177C=
3g.177047457C>TCA2577962588TBL1XR1,TBL1XR1-AS1c.766+29G>A (n.766+29G>A)
c.505+29G>A (n.505+29G>A)
c.371+29G>A
c.796+29G>A (n.796+29G>A)
c.805+29G>A (n.805+29G>A)
n.518-177C>T
3g.177047458A=CA1422667571TBL1XR1,TBL1XR1-AS1c.766+28T= (n.766+28T=)
c.505+28T= (n.505+28T=)
c.371+28T=
c.796+28T= (n.796+28T=)
c.805+28T= (n.805+28T=)
n.518-176A=
3g.177047458A>GCA1422667572TBL1XR1,TBL1XR1-AS1c.766+28T>C (n.766+28T>C)
c.505+28T>C (n.505+28T>C)
c.371+28T>C
c.796+28T>C (n.796+28T>C)
c.805+28T>C (n.805+28T>C)
n.518-176A>G
 dbSNP gnomAD v4
3g.177047462_177047468delCA2668596743TBL1XR1,TBL1XR1-AS1c.766+22_766+28del (n.766+22_766+28del)
c.505+22_505+28del (n.505+22_505+28del)
c.371+22_371+28del
c.796+22_796+28del (n.796+22_796+28del)
c.805+22_805+28del (n.805+22_805+28del)
n.518-172_518-166del
 gnomAD v4
3g.177047458_177047459insCTTCA903092332TBL1XR1,TBL1XR1-AS1c.766+27_766+28insAAG (n.766+27_766+28insAAG)
c.505+27_505+28insAAG (n.505+27_505+28insAAG)
c.371+27_371+28insAAG
c.796+27_796+28insAAG (n.796+27_796+28insAAG)
c.805+27_805+28insAAG (n.805+27_805+28insAAG)
n.518-176_518-175insCTT
 dbSNP gnomAD v3 gnomAD v4
3g.177047460A=CA1422667573TBL1XR1,TBL1XR1-AS1c.766+26T= (n.766+26T=)
c.505+26T= (n.505+26T=)
c.371+26T=
c.796+26T= (n.796+26T=)
c.805+26T= (n.805+26T=)
n.518-174A=
3g.177047460A>CCA89088937TBL1XR1,TBL1XR1-AS1c.766+26T>G (n.766+26T>G)
c.505+26T>G (n.505+26T>G)
c.371+26T>G
c.796+26T>G (n.796+26T>G)
c.805+26T>G (n.805+26T>G)
n.518-174A>C
 dbSNP gnomAD v2 gnomAD v4
3g.177047461G>ACA548334857TBL1XR1,TBL1XR1-AS1c.766+25C>T (n.766+25C>T)
c.505+25C>T (n.505+25C>T)
c.371+25C>T
c.796+25C>T (n.796+25C>T)
c.805+25C>T (n.805+25C>T)
n.518-173G>A
 dbSNP gnomAD v2 gnomAD v4
3g.177047461G=CA1422667574TBL1XR1,TBL1XR1-AS1c.766+25C= (n.766+25C=)
c.505+25C= (n.505+25C=)
c.371+25C=
c.796+25C= (n.796+25C=)
c.805+25C= (n.805+25C=)
n.518-173G=
3g.177047462T>ACA2668596744TBL1XR1,TBL1XR1-AS1c.766+24A>T (n.766+24A>T)
c.505+24A>T (n.505+24A>T)
c.371+24A>T
c.796+24A>T (n.796+24A>T)
c.805+24A>T (n.805+24A>T)
n.518-172T>A
 gnomAD v4
3g.177047467delCA2668596745TBL1XR1,TBL1XR1-AS1c.766+23del (n.766+23del)
c.505+23del (n.505+23del)
c.371+23del
c.796+23del (n.796+23del)
c.805+23del (n.805+23del)
n.518-167del
 gnomAD v4
3g.177047465A=CA2709897TBL1XR1,TBL1XR1-AS1c.766+21T= (n.766+21T=)
c.505+21T= (n.505+21T=)
c.371+21T=
c.796+21T= (n.796+21T=)
c.805+21T= (n.805+21T=)
n.518-169A=
3g.177047465A>CCA1422667576TBL1XR1,TBL1XR1-AS1c.766+21T>G (n.766+21T>G)
c.505+21T>G (n.505+21T>G)
c.371+21T>G
c.796+21T>G (n.796+21T>G)
c.805+21T>G (n.805+21T>G)
n.518-169A>C
 dbSNP
3g.177047465A>GCA89088938TBL1XR1,TBL1XR1-AS1c.766+21T>C (n.766+21T>C)
c.505+21T>C (n.505+21T>C)
c.371+21T>C
c.796+21T>C (n.796+21T>C)
c.805+21T>C (n.805+21T>C)
n.518-169A>G
 dbSNP gnomAD v3 gnomAD v4
3g.177047465A>TCA1422667575TBL1XR1,TBL1XR1-AS1c.766+21T>A (n.766+21T>A)
c.505+21T>A (n.505+21T>A)
c.371+21T>A
c.796+21T>A (n.796+21T>A)
c.805+21T>A (n.805+21T>A)
n.518-169A>T
 dbSNP
3g.177047468G>ACA2709898TBL1XR1,TBL1XR1-AS1c.766+18C>T (n.766+18C>T)
c.505+18C>T (n.505+18C>T)
c.371+18C>T
c.796+18C>T (n.796+18C>T)
c.805+18C>T (n.805+18C>T)
n.518-166G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.177047468G=CA1422667577TBL1XR1,TBL1XR1-AS1c.766+18C= (n.766+18C=)
c.505+18C= (n.505+18C=)
c.371+18C=
c.796+18C= (n.796+18C=)
c.805+18C= (n.805+18C=)
n.518-166G=
3g.177047469G>ACA548334858TBL1XR1,TBL1XR1-AS1c.766+17C>T (n.766+17C>T)
c.505+17C>T (n.505+17C>T)
c.371+17C>T
c.796+17C>T (n.796+17C>T)
c.805+17C>T (n.805+17C>T)
n.518-165G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.177047469G=CA1422667578TBL1XR1,TBL1XR1-AS1c.766+17C= (n.766+17C=)
c.505+17C= (n.505+17C=)
c.371+17C=
c.796+17C= (n.796+17C=)
c.805+17C= (n.805+17C=)
n.518-165G=
3g.177047473delCA2557348495TBL1XR1,TBL1XR1-AS1c.766+16del (n.766+16del)
c.505+16del (n.505+16del)
c.371+16del
c.796+16del (n.796+16del)
c.805+16del (n.805+16del)
n.518-161del
3g.177047473A>GCA2580069133TBL1XR1,TBL1XR1-AS1c.766+13T>C (n.766+13T>C)
c.505+13T>C (n.505+13T>C)
c.371+13T>C
c.796+13T>C (n.796+13T>C)
c.805+13T>C (n.805+13T>C)
n.518-161A>G
 ClinVar
3g.177047474T>CCA1422667580TBL1XR1,TBL1XR1-AS1c.766+12A>G (n.766+12A>G)
c.505+12A>G (n.505+12A>G)
c.371+12A>G
c.796+12A>G (n.796+12A>G)
c.805+12A>G (n.805+12A>G)
n.518-160T>C
 dbSNP
3g.177047474T=CA1422667579TBL1XR1,TBL1XR1-AS1c.766+12A= (n.766+12A=)
c.505+12A= (n.505+12A=)
c.371+12A=
c.796+12A= (n.796+12A=)
c.805+12A= (n.805+12A=)
n.518-160T=
3g.177047476C=CA1422667581TBL1XR1,TBL1XR1-AS1c.766+10G= (n.766+10G=)
c.505+10G= (n.505+10G=)
c.371+10G=
c.796+10G= (n.796+10G=)
c.805+10G= (n.805+10G=)
n.518-158C=
3g.177047476C>TCA2709899TBL1XR1,TBL1XR1-AS1c.766+10G>A (n.766+10G>A)
c.505+10G>A (n.505+10G>A)
c.371+10G>A
c.796+10G>A (n.796+10G>A)
c.805+10G>A (n.805+10G>A)
n.518-158C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
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

Number of alleles fetched