Chr Mutation (hg38) CAid Gene Transcript Linkouts
3g.177047291_177047296delCA2668596728TBL1XR1,TBL1XR1-AS1c.864+4_864+9del (n.864+4_864+9del)
c.603+4_603+9del (n.603+4_603+9del)
c.469+4_469+9del
c.894+4_894+9del (n.894+4_894+9del)
c.903+4_903+9del (n.903+4_903+9del)
n.518-343_518-338del
 gnomAD v4
3g.177047296_177047302delCA645526868TBL1XR1,TBL1XR1-AS1c.864+1_864+7del
c.603+1_603+7del
c.469+1_469+7del
c.894+1_894+7del
c.903+1_903+7del
n.518-338_518-332del
 COSMIC
3g.177047297delCA2668596731TBL1XR1,TBL1XR1-AS1c.864+6del (n.864+6del)
c.603+6del (n.603+6del)
c.469+6del
c.894+6del (n.894+6del)
c.903+6del (n.903+6del)
n.518-337del
 gnomAD v4
3g.177047297T>CCA2668596732TBL1XR1,TBL1XR1-AS1c.864+3A>G (n.864+3A>G)
c.603+3A>G (n.603+3A>G)
c.469+3A>G
c.894+3A>G (n.894+3A>G)
c.903+3A>G (n.903+3A>G)
n.518-337T>C
 gnomAD v4
3g.177047298A>CCA355551973TBL1XR1,TBL1XR1-AS1c.864+2T>G (n.864+2T>G)
c.603+2T>G (n.603+2T>G)
c.469+2T>G
c.894+2T>G (n.894+2T>G)
c.903+2T>G (n.903+2T>G)
n.518-336A>C
3g.177047298A>GCA355551972TBL1XR1,TBL1XR1-AS1c.864+2T>C (n.864+2T>C)
c.603+2T>C (n.603+2T>C)
c.469+2T>C
c.894+2T>C (n.894+2T>C)
c.903+2T>C (n.903+2T>C)
n.518-336A>G
 gnomAD v4
3g.177047298A>TCA355551971TBL1XR1,TBL1XR1-AS1c.864+2T>A (n.864+2T>A)
c.603+2T>A (n.603+2T>A)
c.469+2T>A
c.894+2T>A (n.894+2T>A)
c.903+2T>A (n.903+2T>A)
n.518-336A>T
3g.177047299C>ACA355551974TBL1XR1,TBL1XR1-AS1c.864+1G>T (n.864+1G>T)
c.603+1G>T (n.603+1G>T)
c.469+1G>T
c.894+1G>T (n.894+1G>T)
c.903+1G>T (n.903+1G>T)
n.518-335C>A
3g.177047299C>GCA355551975TBL1XR1,TBL1XR1-AS1c.864+1G>C (n.864+1G>C)
c.603+1G>C (n.603+1G>C)
c.469+1G>C
c.894+1G>C (n.894+1G>C)
c.903+1G>C (n.903+1G>C)
n.518-335C>G
3g.177047299C>TCA355551976TBL1XR1,TBL1XR1-AS1c.864+1G>A (n.864+1G>A)
c.603+1G>A (n.603+1G>A)
c.469+1G>A
c.894+1G>A (n.894+1G>A)
c.903+1G>A (n.903+1G>A)
n.518-335C>T
 ClinVar
3g.177047300C>ACA355551977TBL1XR1,TBL1XR1-AS1c.864G>T (p.Lys288Asn)
c.603G>T (p.Lys201Asn)
c.469G>T
c.894G>T (p.Lys298Asn)
c.903G>T (p.Lys301Asn)
n.518-334C>A
 gnomAD v4
3g.177047300C>GCA355551978TBL1XR1,TBL1XR1-AS1c.864G>C (p.Lys288Asn)
c.603G>C (p.Lys201Asn)
c.469G>C
c.894G>C (p.Lys298Asn)
c.903G>C (p.Lys301Asn)
n.518-334C>G
3g.177047300C>TCA436985622TBL1XR1,TBL1XR1-AS1c.864G>A (p.Lys288=)
c.603G>A (p.Lys201=)
c.469G>A
c.894G>A (p.Lys298=)
c.903G>A (p.Lys301=)
n.518-334C>T
3g.177047301T>ACA355551979TBL1XR1,TBL1XR1-AS1c.863A>T (p.Lys288Met)
c.602A>T (p.Lys201Met)
c.468A>T
c.893A>T (p.Lys298Met)
c.902A>T (p.Lys301Met)
n.518-333T>A
 dbSNP gnomAD v4
3g.177047301T>CCA355551980TBL1XR1,TBL1XR1-AS1c.863A>G (p.Lys288Arg)
c.602A>G (p.Lys201Arg)
c.468A>G
c.893A>G (p.Lys298Arg)
c.902A>G (p.Lys301Arg)
n.518-333T>C
3g.177047301T>GCA355551981TBL1XR1,TBL1XR1-AS1c.863A>C (p.Lys288Thr)
c.602A>C (p.Lys201Thr)
c.468A>C
c.893A>C (p.Lys298Thr)
c.902A>C (p.Lys301Thr)
n.518-333T>G
3g.177047302T>ACA355551982TBL1XR1,TBL1XR1-AS1c.862A>T (p.Lys288Ter)
c.601A>T (p.Lys201Ter)
c.467A>T
c.892A>T (p.Lys298Ter)
c.901A>T (p.Lys301Ter)
n.518-332T>A
3g.177047302T>CCA355551983TBL1XR1,TBL1XR1-AS1c.862A>G (p.Lys288Glu)
c.601A>G (p.Lys201Glu)
c.467A>G
c.892A>G (p.Lys298Glu)
c.901A>G (p.Lys301Glu)
n.518-332T>C
 dbSNP gnomAD v2
3g.177047302T>GCA355551984TBL1XR1,TBL1XR1-AS1c.862A>C (p.Lys288Gln)
c.601A>C (p.Lys201Gln)
c.467A>C
c.892A>C (p.Lys298Gln)
c.901A>C (p.Lys301Gln)
n.518-332T>G
3g.177047302T=CA1422667515TBL1XR1,TBL1XR1-AS1c.862A= (p.Lys288=)
c.601A= (p.Lys201=)
c.467A=
c.892A= (p.Lys298=)
c.901A= (p.Lys301=)
n.518-332T=
3g.177047303G>ACA436985627TBL1XR1,TBL1XR1-AS1c.861C>T (p.Asp287=)
c.600C>T (p.Asp200=)
c.466C>T
c.891C>T (p.Asp297=)
c.900C>T (p.Asp300=)
n.518-331G>A
 gnomAD v4
3g.177047303G>CCA355551985TBL1XR1,TBL1XR1-AS1c.861C>G (p.Asp287Glu)
c.600C>G (p.Asp200Glu)
c.466C>G
c.891C>G (p.Asp297Glu)
c.900C>G (p.Asp300Glu)
n.518-331G>C
3g.177047303G>TCA355551986TBL1XR1,TBL1XR1-AS1c.861C>A (p.Asp287Glu)
c.600C>A (p.Asp200Glu)
c.466C>A
c.891C>A (p.Asp297Glu)
c.900C>A (p.Asp300Glu)
n.518-331G>T
 gnomAD v4
3g.177047304T>ACA355551989TBL1XR1,TBL1XR1-AS1c.860A>T (p.Asp287Val)
c.599A>T (p.Asp200Val)
c.465A>T
c.890A>T (p.Asp297Val)
c.899A>T (p.Asp300Val)
n.518-330T>A
3g.177047304T>CCA355551987TBL1XR1,TBL1XR1-AS1c.860A>G (p.Asp287Gly)
c.599A>G (p.Asp200Gly)
c.465A>G
c.890A>G (p.Asp297Gly)
c.899A>G (p.Asp300Gly)
n.518-330T>C
 gnomAD v4
3g.177047304T>GCA355551988TBL1XR1,TBL1XR1-AS1c.860A>C (p.Asp287Ala)
c.599A>C (p.Asp200Ala)
c.465A>C
c.890A>C (p.Asp297Ala)
c.899A>C (p.Asp300Ala)
n.518-330T>G
3g.177047305C>ACA355551990TBL1XR1,TBL1XR1-AS1c.859G>T (p.Asp287Tyr)
c.598G>T (p.Asp200Tyr)
c.464G>T
c.889G>T (p.Asp297Tyr)
c.898G>T (p.Asp300Tyr)
n.518-329C>A
 gnomAD v4
3g.177047305C>GCA355551991TBL1XR1,TBL1XR1-AS1c.859G>C (p.Asp287His)
c.598G>C (p.Asp200His)
c.464G>C
c.889G>C (p.Asp297His)
c.898G>C (p.Asp300His)
n.518-329C>G
3g.177047305C>TCA355551992TBL1XR1,TBL1XR1-AS1c.859G>A (p.Asp287Asn)
c.598G>A (p.Asp200Asn)
c.464G>A
c.889G>A (p.Asp297Asn)
c.898G>A (p.Asp300Asn)
n.518-329C>T
3g.177047306T>ACA436985630TBL1XR1,TBL1XR1-AS1c.858A>T (p.Val286=)
c.597A>T (p.Val199=)
c.463A>T
c.888A>T (p.Val296=)
c.897A>T (p.Val299=)
n.518-328T>A
3g.177047306T>CCA436985628TBL1XR1,TBL1XR1-AS1c.858A>G (p.Val286=)
c.597A>G (p.Val199=)
c.463A>G
c.888A>G (p.Val296=)
c.897A>G (p.Val299=)
n.518-328T>C
 gnomAD v4
3g.177047306T>GCA436985629TBL1XR1,TBL1XR1-AS1c.858A>C (p.Val286=)
c.597A>C (p.Val199=)
c.463A>C
c.888A>C (p.Val296=)
c.897A>C (p.Val299=)
n.518-328T>G
3g.177047307A=CA1422667516TBL1XR1,TBL1XR1-AS1c.857T= (p.Val286=)
c.596T= (p.Val199=)
c.462T=
c.887T= (p.Val296=)
c.896T= (p.Val299=)
n.518-327A=
3g.177047307A>CCA16617844TBL1XR1,TBL1XR1-AS1c.857T>G (p.Val286Gly)
c.596T>G (p.Val199Gly)
c.462T>G
c.887T>G (p.Val296Gly)
c.896T>G (p.Val299Gly)
n.518-327A>C
 ClinVar dbSNP
3g.177047307A>GCA355551993TBL1XR1,TBL1XR1-AS1c.857T>C (p.Val286Ala)
c.596T>C (p.Val199Ala)
c.462T>C
c.887T>C (p.Val296Ala)
c.896T>C (p.Val299Ala)
n.518-327A>G
3g.177047307A>TCA355551994TBL1XR1,TBL1XR1-AS1c.857T>A (p.Val286Glu)
c.596T>A (p.Val199Glu)
c.462T>A
c.887T>A (p.Val296Glu)
c.896T>A (p.Val299Glu)
n.518-327A>T
3g.177047308C>ACA355551995TBL1XR1,TBL1XR1-AS1c.856G>T (p.Val286Leu)
c.595G>T (p.Val199Leu)
c.461G>T
c.886G>T (p.Val296Leu)
c.895G>T (p.Val299Leu)
n.518-326C>A
3g.177047308C>GCA355551996TBL1XR1,TBL1XR1-AS1c.856G>C (p.Val286Leu)
c.595G>C (p.Val199Leu)
c.461G>C
c.886G>C (p.Val296Leu)
c.895G>C (p.Val299Leu)
n.518-326C>G
3g.177047308C>TCA355551997TBL1XR1,TBL1XR1-AS1c.856G>A (p.Val286Ile)
c.595G>A (p.Val199Ile)
c.461G>A
c.886G>A (p.Val296Ile)
c.895G>A (p.Val299Ile)
n.518-326C>T
3g.177047309T>ACA436985634TBL1XR1,TBL1XR1-AS1c.855A>T (p.Gly285=)
c.594A>T (p.Gly198=)
c.460A>T
c.885A>T (p.Gly295=)
c.894A>T (p.Gly298=)
n.518-325T>A
3g.177047309T>CCA436985633TBL1XR1,TBL1XR1-AS1c.855A>G (p.Gly285=)
c.594A>G (p.Gly198=)
c.460A>G
c.885A>G (p.Gly295=)
c.894A>G (p.Gly298=)
n.518-325T>C
 gnomAD v4
3g.177047309T>GCA436985632TBL1XR1,TBL1XR1-AS1c.855A>C (p.Gly285=)
c.594A>C (p.Gly198=)
c.460A>C
c.885A>C (p.Gly295=)
c.894A>C (p.Gly298=)
n.518-325T>G
 dbSNP gnomAD v4
3g.177047309T=CA1422667517TBL1XR1,TBL1XR1-AS1c.855A= (p.Gly285=)
c.594A= (p.Gly198=)
c.460A=
c.885A= (p.Gly295=)
c.894A= (p.Gly298=)
n.518-325T=
3g.177047310C>ACA355551998TBL1XR1,TBL1XR1-AS1c.854G>T (p.Gly285Val)
c.593G>T (p.Gly198Val)
c.459G>T
c.884G>T (p.Gly295Val)
c.893G>T (p.Gly298Val)
n.518-324C>A
 gnomAD v4 COSMIC
3g.177047310C>GCA355551999TBL1XR1,TBL1XR1-AS1c.854G>C (p.Gly285Ala)
c.593G>C (p.Gly198Ala)
c.459G>C
c.884G>C (p.Gly295Ala)
c.893G>C (p.Gly298Ala)
n.518-324C>G
3g.177047310C>TCA355552000TBL1XR1,TBL1XR1-AS1c.854G>A (p.Gly285Glu)
c.593G>A (p.Gly198Glu)
c.459G>A
c.884G>A (p.Gly295Glu)
c.893G>A (p.Gly298Glu)
n.518-324C>T
 gnomAD v4
3g.177047311delCA2668596733TBL1XR1,TBL1XR1-AS1c.854del (p.Gly285GlufsTer2)
c.593del (p.Gly198GlufsTer2)
c.459del
c.884del (p.Gly295GlufsTer2)
c.893del (p.Gly298GlufsTer2)
n.518-323del
 gnomAD v4
3g.177047311C>ACA355552001TBL1XR1,TBL1XR1-AS1c.853G>T (p.Gly285Ter)
c.592G>T (p.Gly198Ter)
c.458G>T
c.883G>T (p.Gly295Ter)
c.892G>T (p.Gly298Ter)
n.518-323C>A
 gnomAD v4
3g.177047311C>GCA355552003TBL1XR1,TBL1XR1-AS1c.853G>C (p.Gly285Arg)
c.592G>C (p.Gly198Arg)
c.458G>C
c.883G>C (p.Gly295Arg)
c.892G>C (p.Gly298Arg)
n.518-323C>G
3g.177047311C>TCA355552002TBL1XR1,TBL1XR1-AS1c.853G>A (p.Gly285Arg)
c.592G>A (p.Gly198Arg)
c.458G>A
c.883G>A (p.Gly295Arg)
c.892G>A (p.Gly298Arg)
n.518-323C>T
 gnomAD v4
3g.177047312A>CCA436985635TBL1XR1,TBL1XR1-AS1c.852T>G (p.Ala284=)
c.591T>G (p.Ala197=)
c.457T>G
c.882T>G (p.Ala294=)
c.891T>G (p.Ala297=)
n.518-322A>C
3g.177047312A>GCA436985637TBL1XR1,TBL1XR1-AS1c.852T>C (p.Ala284=)
c.591T>C (p.Ala197=)
c.457T>C
c.882T>C (p.Ala294=)
c.891T>C (p.Ala297=)
n.518-322A>G
 gnomAD v4
3g.177047312A>TCA436985636TBL1XR1,TBL1XR1-AS1c.852T>A (p.Ala284=)
c.591T>A (p.Ala197=)
c.457T>A
c.882T>A (p.Ala294=)
c.891T>A (p.Ala297=)
n.518-322A>T
3g.177047313G>ACA355552004TBL1XR1,TBL1XR1-AS1c.851C>T (p.Ala284Val)
c.590C>T (p.Ala197Val)
c.456C>T
c.881C>T (p.Ala294Val)
c.890C>T (p.Ala297Val)
n.518-321G>A
 gnomAD v4
3g.177047313G>CCA355552006TBL1XR1,TBL1XR1-AS1c.851C>G (p.Ala284Gly)
c.590C>G (p.Ala197Gly)
c.456C>G
c.881C>G (p.Ala294Gly)
c.890C>G (p.Ala297Gly)
n.518-321G>C
 ClinVar dbSNP
3g.177047313G>TCA355552005TBL1XR1,TBL1XR1-AS1c.851C>A (p.Ala284Asp)
c.590C>A (p.Ala197Asp)
c.456C>A
c.881C>A (p.Ala294Asp)
c.890C>A (p.Ala297Asp)
n.518-321G>T
3g.177047314C>ACA355552007TBL1XR1,TBL1XR1-AS1c.850G>T (p.Ala284Ser)
c.589G>T (p.Ala197Ser)
c.455G>T
c.880G>T (p.Ala294Ser)
c.889G>T (p.Ala297Ser)
n.518-320C>A
 gnomAD v4
3g.177047314C>GCA355552009TBL1XR1,TBL1XR1-AS1c.850G>C (p.Ala284Pro)
c.589G>C (p.Ala197Pro)
c.455G>C
c.880G>C (p.Ala294Pro)
c.889G>C (p.Ala297Pro)
n.518-320C>G
3g.177047314C>TCA355552008TBL1XR1,TBL1XR1-AS1c.850G>A (p.Ala284Thr)
c.589G>A (p.Ala197Thr)
c.455G>A
c.880G>A (p.Ala294Thr)
c.889G>A (p.Ala297Thr)
n.518-320C>T
 gnomAD v4
3g.177047315A>CCA355552010TBL1XR1,TBL1XR1-AS1c.849T>G (p.Ser283Arg)
c.588T>G (p.Ser196Arg)
c.454T>G
c.879T>G (p.Ser293Arg)
c.888T>G (p.Ser296Arg)
n.518-319A>C
3g.177047315A>GCA436985640TBL1XR1,TBL1XR1-AS1c.849T>C (p.Ser283=)
c.588T>C (p.Ser196=)
c.454T>C
c.879T>C (p.Ser293=)
c.888T>C (p.Ser296=)
n.518-319A>G
3g.177047315A>TCA355552011TBL1XR1,TBL1XR1-AS1c.849T>A (p.Ser283Arg)
c.588T>A (p.Ser196Arg)
c.454T>A
c.879T>A (p.Ser293Arg)
c.888T>A (p.Ser296Arg)
n.518-319A>T
3g.177047316C>ACA355552012TBL1XR1,TBL1XR1-AS1c.848G>T (p.Ser283Ile)
c.587G>T (p.Ser196Ile)
c.453G>T
c.878G>T (p.Ser293Ile)
c.887G>T (p.Ser296Ile)
n.518-318C>A
 gnomAD v4
3g.177047316C>GCA355552013TBL1XR1,TBL1XR1-AS1c.848G>C (p.Ser283Thr)
c.587G>C (p.Ser196Thr)
c.453G>C
c.878G>C (p.Ser293Thr)
c.887G>C (p.Ser296Thr)
n.518-318C>G
3g.177047316C>TCA355552014TBL1XR1,TBL1XR1-AS1c.848G>A (p.Ser283Asn)
c.587G>A (p.Ser196Asn)
c.453G>A
c.878G>A (p.Ser293Asn)
c.887G>A (p.Ser296Asn)
n.518-318C>T
3g.177047317T>ACA355552015TBL1XR1,TBL1XR1-AS1c.847A>T (p.Ser283Cys)
c.586A>T (p.Ser196Cys)
c.452A>T
c.877A>T (p.Ser293Cys)
c.886A>T (p.Ser296Cys)
n.518-317T>A
3g.177047317T>CCA355552016TBL1XR1,TBL1XR1-AS1c.847A>G (p.Ser283Gly)
c.586A>G (p.Ser196Gly)
c.452A>G
c.877A>G (p.Ser293Gly)
c.886A>G (p.Ser296Gly)
n.518-317T>C
3g.177047317T>GCA355552017TBL1XR1,TBL1XR1-AS1c.847A>C (p.Ser283Arg)
c.586A>C (p.Ser196Arg)
c.452A>C
c.877A>C (p.Ser293Arg)
c.886A>C (p.Ser296Arg)
n.518-317T>G
 ClinVar COSMIC
3g.177047318delCA2668596734TBL1XR1,TBL1XR1-AS1c.847del (p.Ser283ValfsTer4)
c.586del (p.Ser196ValfsTer4)
c.452del
c.877del (p.Ser293ValfsTer4)
c.886del (p.Ser296ValfsTer4)
n.518-316del
 gnomAD v4
3g.177047318T>ACA436985642TBL1XR1,TBL1XR1-AS1c.846A>T (p.Leu282=)
c.585A>T (p.Leu195=)
c.451A>T
c.876A>T (p.Leu292=)
c.885A>T (p.Leu295=)
n.518-316T>A
3g.177047318T>CCA89088928TBL1XR1,TBL1XR1-AS1c.846A>G (p.Leu282=)
c.585A>G (p.Leu195=)
c.451A>G
c.876A>G (p.Leu292=)
c.885A>G (p.Leu295=)
n.518-316T>C
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
3g.177047318T>GCA436985646TBL1XR1,TBL1XR1-AS1c.846A>C (p.Leu282=)
c.585A>C (p.Leu195=)
c.451A>C
c.876A>C (p.Leu292=)
c.885A>C (p.Leu295=)
n.518-316T>G
 gnomAD v4
3g.177047318T=CA1422667518TBL1XR1,TBL1XR1-AS1c.846A= (p.Leu282=)
c.585A= (p.Leu195=)
c.451A=
c.876A= (p.Leu292=)
c.885A= (p.Leu295=)
n.518-316T=
3g.177047319A=CA1422667519TBL1XR1,TBL1XR1-AS1c.845T= (p.Leu282=)
c.584T= (p.Leu195=)
c.450T=
c.875T= (p.Leu292=)
c.884T= (p.Leu295=)
n.518-315A=
3g.177047319A>CCA355552018TBL1XR1,TBL1XR1-AS1c.845T>G (p.Leu282Arg)
c.584T>G (p.Leu195Arg)
c.450T>G
c.875T>G (p.Leu292Arg)
c.884T>G (p.Leu295Arg)
n.518-315A>C
3g.177047319A>GCA355552019TBL1XR1,TBL1XR1-AS1c.845T>C (p.Leu282Pro)
c.584T>C (p.Leu195Pro)
c.450T>C
c.875T>C (p.Leu292Pro)
c.884T>C (p.Leu295Pro)
n.518-315A>G
 ClinVar dbSNP gnomAD v4 COSMIC
3g.177047319A>TCA355552020TBL1XR1,TBL1XR1-AS1c.845T>A (p.Leu282Gln)
c.584T>A (p.Leu195Gln)
c.450T>A
c.875T>A (p.Leu292Gln)
c.884T>A (p.Leu295Gln)
n.518-315A>T
3g.177047320G>ACA436985648TBL1XR1,TBL1XR1-AS1c.844C>T (p.Leu282=)
c.583C>T (p.Leu195=)
c.449C>T
c.874C>T (p.Leu292=)
c.883C>T (p.Leu295=)
n.518-314G>A
3g.177047320G>CCA355552021TBL1XR1,TBL1XR1-AS1c.844C>G (p.Leu282Val)
c.583C>G (p.Leu195Val)
c.449C>G
c.874C>G (p.Leu292Val)
c.883C>G (p.Leu295Val)
n.518-314G>C
 gnomAD v4
3g.177047320G>TCA355552022TBL1XR1,TBL1XR1-AS1c.844C>A (p.Leu282Ile)
c.583C>A (p.Leu195Ile)
c.449C>A
c.874C>A (p.Leu292Ile)
c.883C>A (p.Leu295Ile)
n.518-314G>T
 gnomAD v4
3g.177047321G>ACA89088929TBL1XR1,TBL1XR1-AS1c.843C>T (p.Ile281=)
c.582C>T (p.Ile194=)
c.448C>T
c.873C>T (p.Ile291=)
c.882C>T (p.Ile294=)
n.518-313G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.177047321G>CCA355552023TBL1XR1,TBL1XR1-AS1c.843C>G (p.Ile281Met)
c.582C>G (p.Ile194Met)
c.448C>G
c.873C>G (p.Ile291Met)
c.882C>G (p.Ile294Met)
n.518-313G>C
3g.177047321G=CA1422667520TBL1XR1,TBL1XR1-AS1c.843C= (p.Ile281=)
c.582C= (p.Ile194=)
c.448C=
c.873C= (p.Ile291=)
c.882C= (p.Ile294=)
n.518-313G=
3g.177047321G>TCA436985651TBL1XR1,TBL1XR1-AS1c.843C>A (p.Ile281=)
c.582C>A (p.Ile194=)
c.448C>A
c.873C>A (p.Ile291=)
c.882C>A (p.Ile294=)
n.518-313G>T
 gnomAD v4
3g.177047322A>CCA355552024TBL1XR1,TBL1XR1-AS1c.842T>G (p.Ile281Ser)
c.581T>G (p.Ile194Ser)
c.447T>G
c.872T>G (p.Ile291Ser)
c.881T>G (p.Ile294Ser)
n.518-312A>C
3g.177047322A>GCA355552025TBL1XR1,TBL1XR1-AS1c.842T>C (p.Ile281Thr)
c.581T>C (p.Ile194Thr)
c.447T>C
c.872T>C (p.Ile291Thr)
c.881T>C (p.Ile294Thr)
n.518-312A>G
3g.177047322A>TCA355552026TBL1XR1,TBL1XR1-AS1c.842T>A (p.Ile281Asn)
c.581T>A (p.Ile194Asn)
c.447T>A
c.872T>A (p.Ile291Asn)
c.881T>A (p.Ile294Asn)
n.518-312A>T
 gnomAD v4
3g.177047323T>ACA355552027TBL1XR1,TBL1XR1-AS1c.841A>T (p.Ile281Phe)
c.580A>T (p.Ile194Phe)
c.446A>T
c.871A>T (p.Ile291Phe)
c.880A>T (p.Ile294Phe)
n.518-311T>A
3g.177047323T>CCA355552028TBL1XR1,TBL1XR1-AS1c.841A>G (p.Ile281Val)
c.580A>G (p.Ile194Val)
c.446A>G
c.871A>G (p.Ile291Val)
c.880A>G (p.Ile294Val)
n.518-311T>C
3g.177047323T>GCA355552029TBL1XR1,TBL1XR1-AS1c.841A>C (p.Ile281Leu)
c.580A>C (p.Ile194Leu)
c.446A>C
c.871A>C (p.Ile291Leu)
c.880A>C (p.Ile294Leu)
n.518-311T>G
3g.177047324G>ACA436985653TBL1XR1,TBL1XR1-AS1c.840C>T (p.Phe280=)
c.579C>T (p.Phe193=)
c.445C>T
c.870C>T (p.Phe290=)
c.879C>T (p.Phe293=)
n.518-310G>A
 ClinVar dbSNP COSMIC
3g.177047324G>CCA355552030TBL1XR1,TBL1XR1-AS1c.840C>G (p.Phe280Leu)
c.579C>G (p.Phe193Leu)
c.445C>G
c.870C>G (p.Phe290Leu)
c.879C>G (p.Phe293Leu)
n.518-310G>C
3g.177047324G=CA1422667521TBL1XR1,TBL1XR1-AS1c.840C= (p.Phe280=)
c.579C= (p.Phe193=)
c.445C=
c.870C= (p.Phe290=)
c.879C= (p.Phe293=)
n.518-310G=
3g.177047324G>TCA355552031TBL1XR1,TBL1XR1-AS1c.840C>A (p.Phe280Leu)
c.579C>A (p.Phe193Leu)
c.445C>A
c.870C>A (p.Phe290Leu)
c.879C>A (p.Phe293Leu)
n.518-310G>T
 gnomAD v4
3g.177047325A>CCA355552033TBL1XR1,TBL1XR1-AS1c.839T>G (p.Phe280Cys)
c.578T>G (p.Phe193Cys)
c.444T>G
c.869T>G (p.Phe290Cys)
c.878T>G (p.Phe293Cys)
n.518-309A>C
3g.177047325A>GCA355552034TBL1XR1,TBL1XR1-AS1c.839T>C (p.Phe280Ser)
c.578T>C (p.Phe193Ser)
c.444T>C
c.869T>C (p.Phe290Ser)
c.878T>C (p.Phe293Ser)
n.518-309A>G
 gnomAD v4
3g.177047325A>TCA355552032TBL1XR1,TBL1XR1-AS1c.839T>A (p.Phe280Tyr)
c.578T>A (p.Phe193Tyr)
c.444T>A
c.869T>A (p.Phe290Tyr)
c.878T>A (p.Phe293Tyr)
n.518-309A>T
 gnomAD v4
3g.177047326A>CCA355552035TBL1XR1,TBL1XR1-AS1c.838T>G (p.Phe280Val)
c.577T>G (p.Phe193Val)
c.443T>G
c.868T>G (p.Phe290Val)
c.877T>G (p.Phe293Val)
n.518-308A>C
3g.177047326A>GCA355552036TBL1XR1,TBL1XR1-AS1c.838T>C (p.Phe280Leu)
c.577T>C (p.Phe193Leu)
c.443T>C
c.868T>C (p.Phe290Leu)
c.877T>C (p.Phe293Leu)
n.518-308A>G
 gnomAD v4
3g.177047326A>TCA355552037TBL1XR1,TBL1XR1-AS1c.838T>A (p.Phe280Ile)
c.577T>A (p.Phe193Ile)
c.443T>A
c.868T>A (p.Phe290Ile)
c.877T>A (p.Phe293Ile)
n.518-308A>T
3g.177047327A>CCA355552038TBL1XR1,TBL1XR1-AS1c.837T>G (p.Asn279Lys)
c.576T>G (p.Asn192Lys)
c.442T>G
c.867T>G (p.Asn289Lys)
c.876T>G (p.Asn292Lys)
n.518-307A>C
3g.177047327A>GCA436985657TBL1XR1,TBL1XR1-AS1c.837T>C (p.Asn279=)
c.576T>C (p.Asn192=)
c.442T>C
c.867T>C (p.Asn289=)
c.876T>C (p.Asn292=)
n.518-307A>G
 gnomAD v4
3g.177047327A>TCA355552039TBL1XR1,TBL1XR1-AS1c.837T>A (p.Asn279Lys)
c.576T>A (p.Asn192Lys)
c.442T>A
c.867T>A (p.Asn289Lys)
c.876T>A (p.Asn292Lys)
n.518-307A>T
 gnomAD v4
3g.177047328T>ACA355552040TBL1XR1,TBL1XR1-AS1c.836A>T (p.Asn279Ile)
c.575A>T (p.Asn192Ile)
c.441A>T
c.866A>T (p.Asn289Ile)
c.875A>T (p.Asn292Ile)
n.518-306T>A
 gnomAD v4
3g.177047328T>CCA355552041TBL1XR1,TBL1XR1-AS1c.836A>G (p.Asn279Ser)
c.575A>G (p.Asn192Ser)
c.441A>G
c.866A>G (p.Asn289Ser)
c.875A>G (p.Asn292Ser)
n.518-306T>C
3g.177047328T>GCA355552042TBL1XR1,TBL1XR1-AS1c.836A>C (p.Asn279Thr)
c.575A>C (p.Asn192Thr)
c.441A>C
c.866A>C (p.Asn289Thr)
c.875A>C (p.Asn292Thr)
n.518-306T>G
3g.177047329T>ACA355552043TBL1XR1,TBL1XR1-AS1c.835A>T (p.Asn279Tyr)
c.574A>T (p.Asn192Tyr)
c.440A>T
c.865A>T (p.Asn289Tyr)
c.874A>T (p.Asn292Tyr)
n.518-305T>A
3g.177047329T>CCA355552044TBL1XR1,TBL1XR1-AS1c.835A>G (p.Asn279Asp)
c.574A>G (p.Asn192Asp)
c.440A>G
c.865A>G (p.Asn289Asp)
c.874A>G (p.Asn292Asp)
n.518-305T>C
 gnomAD v4
3g.177047329T>GCA355552045TBL1XR1,TBL1XR1-AS1c.835A>C (p.Asn279His)
c.574A>C (p.Asn192His)
c.440A>C
c.865A>C (p.Asn289His)
c.874A>C (p.Asn292His)
n.518-305T>G
3g.177047330T>ACA436985659TBL1XR1,TBL1XR1-AS1c.834A>T (p.Gly278=)
c.573A>T (p.Gly191=)
c.439A>T
c.864A>T (p.Gly288=)
c.873A>T (p.Gly291=)
n.518-304T>A
3g.177047330T>CCA436985660TBL1XR1,TBL1XR1-AS1c.834A>G (p.Gly278=)
c.573A>G (p.Gly191=)
c.439A>G
c.864A>G (p.Gly288=)
c.873A>G (p.Gly291=)
n.518-304T>C
3g.177047330T>GCA436985661TBL1XR1,TBL1XR1-AS1c.834A>C (p.Gly278=)
c.573A>C (p.Gly191=)
c.439A>C
c.864A>C (p.Gly288=)
c.873A>C (p.Gly291=)
n.518-304T>G
3g.177047331C>ACA355552048TBL1XR1,TBL1XR1-AS1c.833G>T (p.Gly278Val)
c.572G>T (p.Gly191Val)
c.438G>T
c.863G>T (p.Gly288Val)
c.872G>T (p.Gly291Val)
n.518-303C>A
 gnomAD v4
3g.177047331C>GCA355552047TBL1XR1,TBL1XR1-AS1c.833G>C (p.Gly278Ala)
c.572G>C (p.Gly191Ala)
c.438G>C
c.863G>C (p.Gly288Ala)
c.872G>C (p.Gly291Ala)
n.518-303C>G
3g.177047331C>TCA355552046TBL1XR1,TBL1XR1-AS1c.833G>A (p.Gly278Glu)
c.572G>A (p.Gly191Glu)
c.438G>A
c.863G>A (p.Gly288Glu)
c.872G>A (p.Gly291Glu)
n.518-303C>T
3g.177047332C>ACA355552049TBL1XR1,TBL1XR1-AS1c.832G>T (p.Gly278Ter)
c.571G>T (p.Gly191Ter)
c.437G>T
c.862G>T (p.Gly288Ter)
c.871G>T (p.Gly291Ter)
n.518-302C>A
 gnomAD v4
3g.177047332C>GCA355552050TBL1XR1,TBL1XR1-AS1c.832G>C (p.Gly278Arg)
c.571G>C (p.Gly191Arg)
c.437G>C
c.862G>C (p.Gly288Arg)
c.871G>C (p.Gly291Arg)
n.518-302C>G
3g.177047332C>TCA355552051TBL1XR1,TBL1XR1-AS1c.832G>A (p.Gly278Arg)
c.571G>A (p.Gly191Arg)
c.437G>A
c.862G>A (p.Gly288Arg)
c.871G>A (p.Gly291Arg)
n.518-302C>T
 COSMIC COSMIC
3g.177047333T>ACA355552052TBL1XR1,TBL1XR1-AS1c.831A>T (p.Lys277Asn)
c.570A>T (p.Lys190Asn)
c.436A>T
c.861A>T (p.Lys287Asn)
c.870A>T (p.Lys290Asn)
n.518-301T>A
3g.177047333T>CCA436985664TBL1XR1,TBL1XR1-AS1c.831A>G (p.Lys277=)
c.570A>G (p.Lys190=)
c.436A>G
c.861A>G (p.Lys287=)
c.870A>G (p.Lys290=)
n.518-301T>C
 dbSNP gnomAD v4
3g.177047333T>GCA355552053TBL1XR1,TBL1XR1-AS1c.831A>C (p.Lys277Asn)
c.570A>C (p.Lys190Asn)
c.436A>C
c.861A>C (p.Lys287Asn)
c.870A>C (p.Lys290Asn)
n.518-301T>G
3g.177047333T=CA1422667522TBL1XR1,TBL1XR1-AS1c.831A= (p.Lys277=)
c.570A= (p.Lys190=)
c.436A=
c.861A= (p.Lys287=)
c.870A= (p.Lys290=)
n.518-301T=
3g.177047334_177047335delCA2739278492TBL1XR1,TBL1XR1-AS1c.830_831del (p.Lys277ArgfsTer22)
c.569_570del (p.Lys190ArgfsTer22)
c.435_436del
c.860_861del (p.Lys287ArgfsTer22)
c.869_870del (p.Lys290ArgfsTer22)
n.518-300_518-299del
 ClinVar
3g.177047334T>ACA355552054TBL1XR1,TBL1XR1-AS1c.830A>T (p.Lys277Ile)
c.569A>T (p.Lys190Ile)
c.435A>T
c.860A>T (p.Lys287Ile)
c.869A>T (p.Lys290Ile)
n.518-300T>A
3g.177047334T>CCA355552055TBL1XR1,TBL1XR1-AS1c.830A>G (p.Lys277Arg)
c.569A>G (p.Lys190Arg)
c.435A>G
c.860A>G (p.Lys287Arg)
c.869A>G (p.Lys290Arg)
n.518-300T>C
 gnomAD v4
3g.177047334T>GCA355552056TBL1XR1,TBL1XR1-AS1c.830A>C (p.Lys277Thr)
c.569A>C (p.Lys190Thr)
c.435A>C
c.860A>C (p.Lys287Thr)
c.869A>C (p.Lys290Thr)
n.518-300T>G
3g.177047335T>ACA355552057TBL1XR1,TBL1XR1-AS1c.829A>T (p.Lys277Ter)
c.568A>T (p.Lys190Ter)
c.434A>T
c.859A>T (p.Lys287Ter)
c.868A>T (p.Lys290Ter)
n.518-299T>A
3g.177047335T>CCA355552058TBL1XR1,TBL1XR1-AS1c.829A>G (p.Lys277Glu)
c.568A>G (p.Lys190Glu)
c.434A>G
c.859A>G (p.Lys287Glu)
c.868A>G (p.Lys290Glu)
n.518-299T>C
 gnomAD v4
3g.177047335T>GCA355552059TBL1XR1,TBL1XR1-AS1c.829A>C (p.Lys277Gln)
c.568A>C (p.Lys190Gln)
c.434A>C
c.859A>C (p.Lys287Gln)
c.868A>C (p.Lys290Gln)
n.518-299T>G
3g.177047336C>ACA355552060TBL1XR1,TBL1XR1-AS1c.828G>T (p.Lys276Asn)
c.567G>T (p.Lys189Asn)
c.433G>T
c.858G>T (p.Lys286Asn)
c.867G>T (p.Lys289Asn)
n.518-298C>A
 gnomAD v4
3g.177047336C>GCA355552061TBL1XR1,TBL1XR1-AS1c.828G>C (p.Lys276Asn)
c.567G>C (p.Lys189Asn)
c.433G>C
c.858G>C (p.Lys286Asn)
c.867G>C (p.Lys289Asn)
n.518-298C>G
3g.177047336C>TCA436985671TBL1XR1,TBL1XR1-AS1c.828G>A (p.Lys276=)
c.567G>A (p.Lys189=)
c.433G>A
c.858G>A (p.Lys286=)
c.867G>A (p.Lys289=)
n.518-298C>T
3g.177047337T>ACA355552063TBL1XR1,TBL1XR1-AS1c.827A>T (p.Lys276Met)
c.566A>T (p.Lys189Met)
c.432A>T
c.857A>T (p.Lys286Met)
c.866A>T (p.Lys289Met)
n.518-297T>A
3g.177047337T>CCA355552064TBL1XR1,TBL1XR1-AS1c.827A>G (p.Lys276Arg)
c.566A>G (p.Lys189Arg)
c.432A>G
c.857A>G (p.Lys286Arg)
c.866A>G (p.Lys289Arg)
n.518-297T>C
 ClinVar
3g.177047337T>GCA355552062TBL1XR1,TBL1XR1-AS1c.827A>C (p.Lys276Thr)
c.566A>C (p.Lys189Thr)
c.432A>C
c.857A>C (p.Lys286Thr)
c.866A>C (p.Lys289Thr)
n.518-297T>G
3g.177047338T>ACA355552065TBL1XR1,TBL1XR1-AS1c.826A>T (p.Lys276Ter)
c.565A>T (p.Lys189Ter)
c.431A>T
c.856A>T (p.Lys286Ter)
c.865A>T (p.Lys289Ter)
n.518-296T>A
 gnomAD v4
3g.177047338T>CCA355552066TBL1XR1,TBL1XR1-AS1c.826A>G (p.Lys276Glu)
c.565A>G (p.Lys189Glu)
c.431A>G
c.856A>G (p.Lys286Glu)
c.865A>G (p.Lys289Glu)
n.518-296T>C
3g.177047338T>GCA355552067TBL1XR1,TBL1XR1-AS1c.826A>C (p.Lys276Gln)
c.565A>C (p.Lys189Gln)
c.431A>C
c.856A>C (p.Lys286Gln)
c.865A>C (p.Lys289Gln)
n.518-296T>G
3g.177047339A>CCA355552068TBL1XR1,TBL1XR1-AS1c.825T>G (p.Asn275Lys)
c.564T>G (p.Asn188Lys)
c.430T>G
c.855T>G (p.Asn285Lys)
c.864T>G (p.Asn288Lys)
n.518-295A>C
3g.177047339A>GCA436985673TBL1XR1,TBL1XR1-AS1c.825T>C (p.Asn275=)
c.564T>C (p.Asn188=)
c.430T>C
c.855T>C (p.Asn285=)
c.864T>C (p.Asn288=)
n.518-295A>G
3g.177047339A>TCA355552069TBL1XR1,TBL1XR1-AS1c.825T>A (p.Asn275Lys)
c.564T>A (p.Asn188Lys)
c.430T>A
c.855T>A (p.Asn285Lys)
c.864T>A (p.Asn288Lys)
n.518-295A>T
 gnomAD v4
3g.177047340T>ACA355552072TBL1XR1,TBL1XR1-AS1c.824A>T (p.Asn275Ile)
c.563A>T (p.Asn188Ile)
c.429A>T
c.854A>T (p.Asn285Ile)
c.863A>T (p.Asn288Ile)
n.518-294T>A
3g.177047340T>CCA355552071TBL1XR1,TBL1XR1-AS1c.824A>G (p.Asn275Ser)
c.563A>G (p.Asn188Ser)
c.429A>G
c.854A>G (p.Asn285Ser)
c.863A>G (p.Asn288Ser)
n.518-294T>C
 gnomAD v4
3g.177047340T>GCA355552070TBL1XR1,TBL1XR1-AS1c.824A>C (p.Asn275Thr)
c.563A>C (p.Asn188Thr)
c.429A>C
c.854A>C (p.Asn285Thr)
c.863A>C (p.Asn288Thr)
n.518-294T>G
3g.177047341T>ACA355552073TBL1XR1,TBL1XR1-AS1c.823A>T (p.Asn275Tyr)
c.562A>T (p.Asn188Tyr)
c.428A>T
c.853A>T (p.Asn285Tyr)
c.862A>T (p.Asn288Tyr)
n.518-293T>A
3g.177047341T>CCA355552074TBL1XR1,TBL1XR1-AS1c.823A>G (p.Asn275Asp)
c.562A>G (p.Asn188Asp)
c.428A>G
c.853A>G (p.Asn285Asp)
c.862A>G (p.Asn288Asp)
n.518-293T>C
 gnomAD v4
3g.177047341T>GCA355552075TBL1XR1,TBL1XR1-AS1c.823A>C (p.Asn275His)
c.562A>C (p.Asn188His)
c.428A>C
c.853A>C (p.Asn285His)
c.862A>C (p.Asn288His)
n.518-293T>G
3g.177047342C>ACA355552076TBL1XR1,TBL1XR1-AS1c.822G>T (p.Trp274Cys)
c.561G>T (p.Trp187Cys)
c.427G>T
c.852G>T (p.Trp284Cys)
c.861G>T (p.Trp287Cys)
n.518-292C>A
 gnomAD v4
3g.177047342C>GCA355552077TBL1XR1,TBL1XR1-AS1c.822G>C (p.Trp274Cys)
c.561G>C (p.Trp187Cys)
c.427G>C
c.852G>C (p.Trp284Cys)
c.861G>C (p.Trp287Cys)
n.518-292C>G
3g.177047342C>TCA355552078TBL1XR1,TBL1XR1-AS1c.822G>A (p.Trp274Ter)
c.561G>A (p.Trp187Ter)
c.427G>A
c.852G>A (p.Trp284Ter)
c.861G>A (p.Trp287Ter)
n.518-292C>T
 gnomAD v4
3g.177047343C>ACA355552081TBL1XR1,TBL1XR1-AS1c.821G>T (p.Trp274Leu)
c.560G>T (p.Trp187Leu)
c.426G>T
c.851G>T (p.Trp284Leu)
c.860G>T (p.Trp287Leu)
n.518-291C>A
 gnomAD v4
3g.177047343C>GCA355552079TBL1XR1,TBL1XR1-AS1c.821G>C (p.Trp274Ser)
c.560G>C (p.Trp187Ser)
c.426G>C
c.851G>C (p.Trp284Ser)
c.860G>C (p.Trp287Ser)
n.518-291C>G
3g.177047343C>TCA355552080TBL1XR1,TBL1XR1-AS1c.821G>A (p.Trp274Ter)
c.560G>A (p.Trp187Ter)
c.426G>A
c.851G>A (p.Trp284Ter)
c.860G>A (p.Trp287Ter)
n.518-291C>T
3g.177047344A>CCA355552082TBL1XR1,TBL1XR1-AS1c.820T>G (p.Trp274Gly)
c.559T>G (p.Trp187Gly)
c.425T>G
c.850T>G (p.Trp284Gly)
c.859T>G (p.Trp287Gly)
n.518-290A>C
3g.177047344A>GCA355552083TBL1XR1,TBL1XR1-AS1c.820T>C (p.Trp274Arg)
c.559T>C (p.Trp187Arg)
c.425T>C
c.850T>C (p.Trp284Arg)
c.859T>C (p.Trp287Arg)
n.518-290A>G
 gnomAD v4
3g.177047344A>TCA355552084TBL1XR1,TBL1XR1-AS1c.820T>A (p.Trp274Arg)
c.559T>A (p.Trp187Arg)
c.425T>A
c.850T>A (p.Trp284Arg)
c.859T>A (p.Trp287Arg)
n.518-290A>T
3g.177047345T>ACA355552085TBL1XR1,TBL1XR1-AS1c.819A>T (p.Lys273Asn)
c.558A>T (p.Lys186Asn)
c.424A>T
c.849A>T (p.Lys283Asn)
c.858A>T (p.Lys286Asn)
n.518-289T>A
3g.177047345T>CCA89088930TBL1XR1,TBL1XR1-AS1c.819A>G (p.Lys273=)
c.558A>G (p.Lys186=)
c.424A>G
c.849A>G (p.Lys283=)
c.858A>G (p.Lys286=)
n.518-289T>C
 ClinVar dbSNP gnomAD v3 gnomAD v4
3g.177047345T>GCA355552086TBL1XR1,TBL1XR1-AS1c.819A>C (p.Lys273Asn)
c.558A>C (p.Lys186Asn)
c.424A>C
c.849A>C (p.Lys283Asn)
c.858A>C (p.Lys286Asn)
n.518-289T>G
3g.177047345T=CA1422667523TBL1XR1,TBL1XR1-AS1c.819A= (p.Lys273=)
c.558A= (p.Lys186=)
c.424A=
c.849A= (p.Lys283=)
c.858A= (p.Lys286=)
n.518-289T=
3g.177047348delCA2668596735TBL1XR1,TBL1XR1-AS1c.819del (p.Lys273AsnfsTer10)
c.558del (p.Lys186AsnfsTer10)
c.424del
c.849del (p.Lys283AsnfsTer10)
c.858del (p.Lys286AsnfsTer10)
n.518-286del
 gnomAD v4
3g.177047346T>ACA355552087TBL1XR1,TBL1XR1-AS1c.818A>T (p.Lys273Ile)
c.557A>T (p.Lys186Ile)
c.423A>T
c.848A>T (p.Lys283Ile)
c.857A>T (p.Lys286Ile)
n.518-288T>A
3g.177047346T>CCA355552088TBL1XR1,TBL1XR1-AS1c.818A>G (p.Lys273Arg)
c.557A>G (p.Lys186Arg)
c.423A>G
c.848A>G (p.Lys283Arg)
c.857A>G (p.Lys286Arg)
n.518-288T>C
 ClinVar
3g.177047346T>GCA355552089TBL1XR1,TBL1XR1-AS1c.818A>C (p.Lys273Thr)
c.557A>C (p.Lys186Thr)
c.423A>C
c.848A>C (p.Lys283Thr)
c.857A>C (p.Lys286Thr)
n.518-288T>G
3g.177047347T>ACA355552090TBL1XR1,TBL1XR1-AS1c.817A>T (p.Lys273Ter)
c.556A>T (p.Lys186Ter)
c.422A>T
c.847A>T (p.Lys283Ter)
c.856A>T (p.Lys286Ter)
n.518-287T>A
3g.177047347T>CCA355552091TBL1XR1,TBL1XR1-AS1c.817A>G (p.Lys273Glu)
c.556A>G (p.Lys186Glu)
c.422A>G
c.847A>G (p.Lys283Glu)
c.856A>G (p.Lys286Glu)
n.518-287T>C
3g.177047347T>GCA355552092TBL1XR1,TBL1XR1-AS1c.817A>C (p.Lys273Gln)
c.556A>C (p.Lys186Gln)
c.422A>C
c.847A>C (p.Lys283Gln)
c.856A>C (p.Lys286Gln)
n.518-287T>G
3g.177047348T>ACA355552093TBL1XR1,TBL1XR1-AS1c.816A>T (p.Leu272Phe)
c.555A>T (p.Leu185Phe)
c.421A>T
c.846A>T (p.Leu282Phe)
c.855A>T (p.Leu285Phe)
n.518-286T>A
3g.177047348T>CCA436985679TBL1XR1,TBL1XR1-AS1c.816A>G (p.Leu272=)
c.555A>G (p.Leu185=)
c.421A>G
c.846A>G (p.Leu282=)
c.855A>G (p.Leu285=)
n.518-286T>C
3g.177047348T>GCA355552094TBL1XR1,TBL1XR1-AS1c.816A>C (p.Leu272Phe)
c.555A>C (p.Leu185Phe)
c.421A>C
c.846A>C (p.Leu282Phe)
c.855A>C (p.Leu285Phe)
n.518-286T>G
3g.177047349A>CCA355552095TBL1XR1,TBL1XR1-AS1c.815T>G (p.Leu272Ter)
c.554T>G (p.Leu185Ter)
c.420T>G
c.845T>G (p.Leu282Ter)
c.854T>G (p.Leu285Ter)
n.518-285A>C
3g.177047349A>GCA355552097TBL1XR1,TBL1XR1-AS1c.815T>C (p.Leu272Ser)
c.554T>C (p.Leu185Ser)
c.420T>C
c.845T>C (p.Leu282Ser)
c.854T>C (p.Leu285Ser)
n.518-285A>G
3g.177047349A>TCA355552096TBL1XR1,TBL1XR1-AS1c.815T>A (p.Leu272Ter)
c.554T>A (p.Leu185Ter)
c.420T>A
c.845T>A (p.Leu282Ter)
c.854T>A (p.Leu285Ter)
n.518-285A>T
3g.177047350A>CCA355552098TBL1XR1,TBL1XR1-AS1c.814T>G (p.Leu272Val)
c.553T>G (p.Leu185Val)
c.419T>G
c.844T>G (p.Leu282Val)
c.853T>G (p.Leu285Val)
n.518-284A>C
3g.177047350A>GCA436985681TBL1XR1,TBL1XR1-AS1c.814T>C (p.Leu272=)
c.553T>C (p.Leu185=)
c.419T>C
c.844T>C (p.Leu282=)
c.853T>C (p.Leu285=)
n.518-284A>G
3g.177047350A>TCA355552099TBL1XR1,TBL1XR1-AS1c.814T>A (p.Leu272Ile)
c.553T>A (p.Leu185Ile)
c.419T>A
c.844T>A (p.Leu282Ile)
c.853T>A (p.Leu285Ile)
n.518-284A>T
 gnomAD v4
3g.177047351T>ACA436985683TBL1XR1,TBL1XR1-AS1c.813A>T (p.Ala271=)
c.552A>T (p.Ala184=)
c.418A>T
c.843A>T (p.Ala281=)
c.852A>T (p.Ala284=)
n.518-283T>A
 gnomAD v4
3g.177047351T>CCA2709881TBL1XR1,TBL1XR1-AS1c.813A>G (p.Ala271=)
c.552A>G (p.Ala184=)
c.418A>G
c.843A>G (p.Ala281=)
c.852A>G (p.Ala284=)
n.518-283T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.177047351T>GCA436985684TBL1XR1,TBL1XR1-AS1c.813A>C (p.Ala271=)
c.552A>C (p.Ala184=)
c.418A>C
c.843A>C (p.Ala281=)
c.852A>C (p.Ala284=)
n.518-283T>G
 dbSNP gnomAD v2 gnomAD v4
3g.177047351T=CA1422667524TBL1XR1,TBL1XR1-AS1c.813A= (p.Ala271=)
c.552A= (p.Ala184=)
c.418A=
c.843A= (p.Ala281=)
c.852A= (p.Ala284=)
n.518-283T=
3g.177047352G>ACA355552100TBL1XR1,TBL1XR1-AS1c.812C>T (p.Ala271Val)
c.551C>T (p.Ala184Val)
c.417C>T
c.842C>T (p.Ala281Val)
c.851C>T (p.Ala284Val)
n.518-282G>A
3g.177047352G>CCA355552101TBL1XR1,TBL1XR1-AS1c.812C>G (p.Ala271Gly)
c.551C>G (p.Ala184Gly)
c.417C>G
c.842C>G (p.Ala281Gly)
c.851C>G (p.Ala284Gly)
n.518-282G>C
3g.177047352G>TCA355552102TBL1XR1,TBL1XR1-AS1c.812C>A (p.Ala271Glu)
c.551C>A (p.Ala184Glu)
c.417C>A
c.842C>A (p.Ala281Glu)
c.851C>A (p.Ala284Glu)
n.518-282G>T
 gnomAD v4
3g.177047353C>ACA355552105TBL1XR1,TBL1XR1-AS1c.811G>T (p.Ala271Ser)
c.550G>T (p.Ala184Ser)
c.416G>T
c.841G>T (p.Ala281Ser)
c.850G>T (p.Ala284Ser)
n.518-281C>A
 gnomAD v4
3g.177047353C>GCA355552103TBL1XR1,TBL1XR1-AS1c.811G>C (p.Ala271Pro)
c.550G>C (p.Ala184Pro)
c.416G>C
c.841G>C (p.Ala281Pro)
c.850G>C (p.Ala284Pro)
n.518-281C>G
 gnomAD v4 COSMIC
3g.177047353C>TCA355552104TBL1XR1,TBL1XR1-AS1c.811G>A (p.Ala271Thr)
c.550G>A (p.Ala184Thr)
c.416G>A
c.841G>A (p.Ala281Thr)
c.850G>A (p.Ala284Thr)
n.518-281C>T
 gnomAD v4
3g.177047354A>CCA355552106TBL1XR1,TBL1XR1-AS1c.810T>G (p.Phe270Leu)
c.549T>G (p.Phe183Leu)
c.415T>G
c.840T>G (p.Phe280Leu)
c.849T>G (p.Phe283Leu)
n.518-280A>C
3g.177047354A>GCA436985688TBL1XR1,TBL1XR1-AS1c.810T>C (p.Phe270=)
c.549T>C (p.Phe183=)
c.415T>C
c.840T>C (p.Phe280=)
c.849T>C (p.Phe283=)
n.518-280A>G
 dbSNP
3g.177047354A>TCA355552107TBL1XR1,TBL1XR1-AS1c.810T>A (p.Phe270Leu)
c.549T>A (p.Phe183Leu)
c.415T>A
c.840T>A (p.Phe280Leu)
c.849T>A (p.Phe283Leu)
n.518-280A>T
3g.177047355A>CCA355552108TBL1XR1,TBL1XR1-AS1c.809T>G (p.Phe270Cys)
c.548T>G (p.Phe183Cys)
c.414T>G
c.839T>G (p.Phe280Cys)
c.848T>G (p.Phe283Cys)
n.518-279A>C
 ClinVar COSMIC
3g.177047355A>GCA355552109TBL1XR1,TBL1XR1-AS1c.809T>C (p.Phe270Ser)
c.548T>C (p.Phe183Ser)
c.414T>C
c.839T>C (p.Phe280Ser)
c.848T>C (p.Phe283Ser)
n.518-279A>G
3g.177047355A>TCA355552110TBL1XR1,TBL1XR1-AS1c.809T>A (p.Phe270Tyr)
c.548T>A (p.Phe183Tyr)
c.414T>A
c.839T>A (p.Phe280Tyr)
c.848T>A (p.Phe283Tyr)
n.518-279A>T
3g.177047355_177047357delinsAATCA1422667525TBL1XR1,TBL1XR1-AS1c.807_809delinsATT (p.Ile269=)
c.546_548delinsATT (p.Ile182=)
c.412_414delinsATT
c.837_839delinsATT (p.Ile279=)
c.846_848delinsATT (p.Ile282=)
n.518-279_518-277delinsAAT
3g.177047356A>CCA355552111TBL1XR1,TBL1XR1-AS1c.808T>G (p.Phe270Val)
c.547T>G (p.Phe183Val)
c.413T>G
c.838T>G (p.Phe280Val)
c.847T>G (p.Phe283Val)
n.518-278A>C
3g.177047356A>GCA355552113TBL1XR1,TBL1XR1-AS1c.808T>C (p.Phe270Leu)
c.547T>C (p.Phe183Leu)
c.413T>C
c.838T>C (p.Phe280Leu)
c.847T>C (p.Phe283Leu)
n.518-278A>G
3g.177047356A>TCA355552112TBL1XR1,TBL1XR1-AS1c.808T>A (p.Phe270Ile)
c.547T>A (p.Phe183Ile)
c.413T>A
c.838T>A (p.Phe280Ile)
c.847T>A (p.Phe283Ile)
n.518-278A>T
3g.177047359_177047360delCA1422667526TBL1XR1,TBL1XR1-AS1c.807_808del (p.Phe270CysfsTer6)
c.546_547del (p.Phe183CysfsTer6)
c.412_413del
c.837_838del (p.Phe280CysfsTer6)
c.846_847del (p.Phe283CysfsTer6)
n.518-275_518-274del
 ClinVar dbSNP
3g.177047357T>ACA436985690TBL1XR1,TBL1XR1-AS1c.807A>T (p.Ile269=)
c.546A>T (p.Ile182=)
c.412A>T
c.837A>T (p.Ile279=)
c.846A>T (p.Ile282=)
n.518-277T>A
3g.177047357T>CCA355552114TBL1XR1,TBL1XR1-AS1c.807A>G (p.Ile269Met)
c.546A>G (p.Ile182Met)
c.412A>G
c.837A>G (p.Ile279Met)
c.846A>G (p.Ile282Met)
n.518-277T>C
 COSMIC
3g.177047357T>GCA436985691TBL1XR1,TBL1XR1-AS1c.807A>C (p.Ile269=)
c.546A>C (p.Ile182=)
c.412A>C
c.837A>C (p.Ile279=)
c.846A>C (p.Ile282=)
n.518-277T>G
3g.177047358A>CCA355552115TBL1XR1,TBL1XR1-AS1c.806T>G (p.Ile269Arg)
c.545T>G (p.Ile182Arg)
c.411T>G
c.836T>G (p.Ile279Arg)
c.845T>G (p.Ile282Arg)
n.518-276A>C
3g.177047358A>GCA355552116TBL1XR1,TBL1XR1-AS1c.806T>C (p.Ile269Thr)
c.545T>C (p.Ile182Thr)
c.411T>C
c.836T>C (p.Ile279Thr)
c.845T>C (p.Ile282Thr)
n.518-276A>G
3g.177047358A>TCA355552117TBL1XR1,TBL1XR1-AS1c.806T>A (p.Ile269Lys)
c.545T>A (p.Ile182Lys)
c.411T>A
c.836T>A (p.Ile279Lys)
c.845T>A (p.Ile282Lys)
n.518-276A>T
3g.177047359T>ACA355552118TBL1XR1,TBL1XR1-AS1c.805A>T (p.Ile269Leu)
c.544A>T (p.Ile182Leu)
c.410A>T
c.835A>T (p.Ile279Leu)
c.844A>T (p.Ile282Leu)
n.518-275T>A
3g.177047359T>CCA355552119TBL1XR1,TBL1XR1-AS1c.805A>G (p.Ile269Val)
c.544A>G (p.Ile182Val)
c.410A>G
c.835A>G (p.Ile279Val)
c.844A>G (p.Ile282Val)
n.518-275T>C
 gnomAD v4
3g.177047359T>GCA355552120TBL1XR1,TBL1XR1-AS1c.805A>C (p.Ile269Leu)
c.544A>C (p.Ile182Leu)
c.410A>C
c.835A>C (p.Ile279Leu)
c.844A>C (p.Ile282Leu)
n.518-275T>G
3g.177047360A>CCA436985693TBL1XR1,TBL1XR1-AS1c.804T>G (p.Pro268=)
c.543T>G (p.Pro181=)
c.409T>G
c.834T>G (p.Pro278=)
c.843T>G (p.Pro281=)
n.518-274A>C
3g.177047360A>GCA436985694TBL1XR1,TBL1XR1-AS1c.804T>C (p.Pro268=)
c.543T>C (p.Pro181=)
c.409T>C
c.834T>C (p.Pro278=)
c.843T>C (p.Pro281=)
n.518-274A>G
 gnomAD v4
3g.177047360A>TCA436985695TBL1XR1,TBL1XR1-AS1c.804T>A (p.Pro268=)
c.543T>A (p.Pro181=)
c.409T>A
c.834T>A (p.Pro278=)
c.843T>A (p.Pro281=)
n.518-274A>T
3g.177047361G>ACA355552121TBL1XR1,TBL1XR1-AS1c.803C>T (p.Pro268Leu)
c.542C>T (p.Pro181Leu)
c.408C>T
c.833C>T (p.Pro278Leu)
c.842C>T (p.Pro281Leu)
n.518-273G>A
 ClinVar dbSNP gnomAD v4
3g.177047361G>CCA355552122TBL1XR1,TBL1XR1-AS1c.803C>G (p.Pro268Arg)
c.542C>G (p.Pro181Arg)
c.408C>G
c.833C>G (p.Pro278Arg)
c.842C>G (p.Pro281Arg)
n.518-273G>C
3g.177047361G>TCA355552123TBL1XR1,TBL1XR1-AS1c.803C>A (p.Pro268His)
c.542C>A (p.Pro181His)
c.408C>A
c.833C>A (p.Pro278His)
c.842C>A (p.Pro281His)
n.518-273G>T
 gnomAD v4
3g.177047362G>ACA355552126TBL1XR1,TBL1XR1-AS1c.802C>T (p.Pro268Ser)
c.541C>T (p.Pro181Ser)
c.407C>T
c.832C>T (p.Pro278Ser)
c.841C>T (p.Pro281Ser)
n.518-272G>A
 gnomAD v4
3g.177047362G>CCA355552125TBL1XR1,TBL1XR1-AS1c.802C>G (p.Pro268Ala)
c.541C>G (p.Pro181Ala)
c.407C>G
c.832C>G (p.Pro278Ala)
c.841C>G (p.Pro281Ala)
n.518-272G>C
3g.177047362G>TCA355552124TBL1XR1,TBL1XR1-AS1c.802C>A (p.Pro268Thr)
c.541C>A (p.Pro181Thr)
c.407C>A
c.832C>A (p.Pro278Thr)
c.841C>A (p.Pro281Thr)
n.518-272G>T
3g.177047363G>ACA436985696TBL1XR1,TBL1XR1-AS1c.801C>T (p.Gly267=)
c.540C>T (p.Gly180=)
c.406C>T
c.831C>T (p.Gly277=)
c.840C>T (p.Gly280=)
n.518-271G>A
3g.177047363G>CCA436985697TBL1XR1,TBL1XR1-AS1c.801C>G (p.Gly267=)
c.540C>G (p.Gly180=)
c.406C>G
c.831C>G (p.Gly277=)
c.840C>G (p.Gly280=)
n.518-271G>C
3g.177047363G>TCA436985698TBL1XR1,TBL1XR1-AS1c.801C>A (p.Gly267=)
c.540C>A (p.Gly180=)
c.406C>A
c.831C>A (p.Gly277=)
c.840C>A (p.Gly280=)
n.518-271G>T
3g.177047364C>ACA355552127TBL1XR1,TBL1XR1-AS1c.800G>T (p.Gly267Val)
c.539G>T (p.Gly180Val)
c.405G>T
c.830G>T (p.Gly277Val)
c.839G>T (p.Gly280Val)
n.518-270C>A
 ClinVar dbSNP gnomAD v4 COSMIC
3g.177047364C>GCA355552129TBL1XR1,TBL1XR1-AS1c.800G>C (p.Gly267Ala)
c.539G>C (p.Gly180Ala)
c.405G>C
c.830G>C (p.Gly277Ala)
c.839G>C (p.Gly280Ala)
n.518-270C>G
3g.177047364C>TCA355552128TBL1XR1,TBL1XR1-AS1c.800G>A (p.Gly267Asp)
c.539G>A (p.Gly180Asp)
c.405G>A
c.830G>A (p.Gly277Asp)
c.839G>A (p.Gly280Asp)
n.518-270C>T
3g.177047365dupCA658779471TBL1XR1,TBL1XR1-AS1c.800dup (p.Ile269TyrfsTer8)
c.539dup (p.Ile182TyrfsTer8)
c.405dup
c.830dup (p.Ile279TyrfsTer8)
c.839dup (p.Ile282TyrfsTer8)
n.518-269dup
3g.177047365delCA2586973176TBL1XR1,TBL1XR1-AS1c.800del (p.Gly267AlafsTer6)
c.539del (p.Gly180AlafsTer6)
c.405del
c.830del (p.Gly277AlafsTer6)
c.839del (p.Gly280AlafsTer6)
n.518-269del
3g.177047365C>ACA355552130TBL1XR1,TBL1XR1-AS1c.799G>T (p.Gly267Cys)
c.538G>T (p.Gly180Cys)
c.404G>T
c.829G>T (p.Gly277Cys)
c.838G>T (p.Gly280Cys)
n.518-269C>A
 ClinVar dbSNP gnomAD v4 COSMIC
3g.177047365C=CA1422667527TBL1XR1,TBL1XR1-AS1c.799G= (p.Gly267=)
c.538G= (p.Gly180=)
c.404G=
c.829G= (p.Gly277=)
c.838G= (p.Gly280=)
n.518-269C=
3g.177047365C>GCA355552131TBL1XR1,TBL1XR1-AS1c.799G>C (p.Gly267Arg)
c.538G>C (p.Gly180Arg)
c.404G>C
c.829G>C (p.Gly277Arg)
c.838G>C (p.Gly280Arg)
n.518-269C>G
3g.177047365C>TCA355552132TBL1XR1,TBL1XR1-AS1c.799G>A (p.Gly267Ser)
c.538G>A (p.Gly180Ser)
c.404G>A
c.829G>A (p.Gly277Ser)
c.838G>A (p.Gly280Ser)
n.518-269C>T
 gnomAD v4
3g.177047366T>ACA355552133TBL1XR1,TBL1XR1-AS1c.798A>T (p.Lys266Asn)
c.537A>T (p.Lys179Asn)
c.403A>T
c.828A>T (p.Lys276Asn)
c.837A>T (p.Lys279Asn)
n.518-268T>A
 COSMIC
3g.177047366T>CCA2709882TBL1XR1,TBL1XR1-AS1c.798A>G (p.Lys266=)
c.537A>G (p.Lys179=)
c.403A>G
c.828A>G (p.Lys276=)
c.837A>G (p.Lys279=)
n.518-268T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.177047366T>GCA355552134TBL1XR1,TBL1XR1-AS1c.798A>C (p.Lys266Asn)
c.537A>C (p.Lys179Asn)
c.403A>C
c.828A>C (p.Lys276Asn)
c.837A>C (p.Lys279Asn)
n.518-268T>G
 gnomAD v4
3g.177047366T=CA1422667528TBL1XR1,TBL1XR1-AS1c.798A= (p.Lys266=)
c.537A= (p.Lys179=)
c.403A=
c.828A= (p.Lys276=)
c.837A= (p.Lys279=)
n.518-268T=
3g.177047367T>ACA355552135TBL1XR1,TBL1XR1-AS1c.797A>T (p.Lys266Ile)
c.536A>T (p.Lys179Ile)
c.402A>T
c.827A>T (p.Lys276Ile)
c.836A>T (p.Lys279Ile)
n.518-267T>A
3g.177047367T>CCA355552136TBL1XR1,TBL1XR1-AS1c.797A>G (p.Lys266Arg)
c.536A>G (p.Lys179Arg)
c.402A>G
c.827A>G (p.Lys276Arg)
c.836A>G (p.Lys279Arg)
n.518-267T>C
3g.177047367T>GCA355552137TBL1XR1,TBL1XR1-AS1c.797A>C (p.Lys266Thr)
c.536A>C (p.Lys179Thr)
c.402A>C
c.827A>C (p.Lys276Thr)
c.836A>C (p.Lys279Thr)
n.518-267T>G
3g.177047368T>ACA355552138TBL1XR1,TBL1XR1-AS1c.796A>T (p.Lys266Ter)
c.535A>T (p.Lys179Ter)
c.401A>T
c.826A>T (p.Lys276Ter)
c.835A>T (p.Lys279Ter)
n.518-266T>A
3g.177047368T>CCA355552139TBL1XR1,TBL1XR1-AS1c.796A>G (p.Lys266Glu)
c.535A>G (p.Lys179Glu)
c.401A>G
c.826A>G (p.Lys276Glu)
c.835A>G (p.Lys279Glu)
n.518-266T>C
 gnomAD v4
3g.177047368T>GCA355552140TBL1XR1,TBL1XR1-AS1c.796A>C (p.Lys266Gln)
c.535A>C (p.Lys179Gln)
c.401A>C
c.826A>C (p.Lys276Gln)
c.835A>C (p.Lys279Gln)
n.518-266T>G
3g.177047369A>CCA355552142TBL1XR1,TBL1XR1-AS1c.795T>G (p.His265Gln)
c.534T>G (p.His178Gln)
c.400T>G
c.825T>G (p.His275Gln)
c.834T>G (p.His278Gln)
n.518-265A>C
3g.177047369A>GCA436985699TBL1XR1,TBL1XR1-AS1c.795T>C (p.His265=)
c.534T>C (p.His178=)
c.400T>C
c.825T>C (p.His275=)
c.834T>C (p.His278=)
n.518-265A>G
3g.177047369A>TCA355552141TBL1XR1,TBL1XR1-AS1c.795T>A (p.His265Gln)
c.534T>A (p.His178Gln)
c.400T>A
c.825T>A (p.His275Gln)
c.834T>A (p.His278Gln)
n.518-265A>T
3g.177047370T>ACA355552143TBL1XR1,TBL1XR1-AS1c.794A>T (p.His265Leu)
c.533A>T (p.His178Leu)
c.399A>T
c.824A>T (p.His275Leu)
c.833A>T (p.His278Leu)
n.518-264T>A
3g.177047370T>CCA2709883TBL1XR1,TBL1XR1-AS1c.794A>G (p.His265Arg)
c.533A>G (p.His178Arg)
c.399A>G
c.824A>G (p.His275Arg)
c.833A>G (p.His278Arg)
n.518-264T>C
 dbSNP ExAC gnomAD v2
3g.177047370T>GCA355552144TBL1XR1,TBL1XR1-AS1c.794A>C (p.His265Pro)
c.533A>C (p.His178Pro)
c.399A>C
c.824A>C (p.His275Pro)
c.833A>C (p.His278Pro)
n.518-264T>G
3g.177047370T=CA1422667529TBL1XR1,TBL1XR1-AS1c.794A= (p.His265=)
c.533A= (p.His178=)
c.399A=
c.824A= (p.His275=)
c.833A= (p.His278=)
n.518-264T=
3g.177047371G>ACA355552145TBL1XR1,TBL1XR1-AS1c.793C>T (p.His265Tyr)
c.532C>T (p.His178Tyr)
c.398C>T
c.823C>T (p.His275Tyr)
c.832C>T (p.His278Tyr)
n.518-263G>A
3g.177047371G>CCA355552146TBL1XR1,TBL1XR1-AS1c.793C>G (p.His265Asp)
c.532C>G (p.His178Asp)
c.398C>G
c.823C>G (p.His275Asp)
c.832C>G (p.His278Asp)
n.518-263G>C
 COSMIC
3g.177047371G>TCA355552147TBL1XR1,TBL1XR1-AS1c.793C>A (p.His265Asn)
c.532C>A (p.His178Asn)
c.398C>A
c.823C>A (p.His275Asn)
c.832C>A (p.His278Asn)
n.518-263G>T
 gnomAD v4
3g.177047372C>ACA355552149TBL1XR1,TBL1XR1-AS1c.792G>T (p.Gln264His)
c.531G>T (p.Gln177His)
c.397G>T
c.822G>T (p.Gln274His)
c.831G>T (p.Gln277His)
n.518-262C>A
 gnomAD v4
3g.177047372C=CA1422667530TBL1XR1,TBL1XR1-AS1c.792G= (p.Gln264=)
c.531G= (p.Gln177=)
c.397G=
c.822G= (p.Gln274=)
c.831G= (p.Gln277=)
n.518-262C=
3g.177047372C>GCA355552148TBL1XR1,TBL1XR1-AS1c.792G>C (p.Gln264His)
c.531G>C (p.Gln177His)
c.397G>C
c.822G>C (p.Gln274His)
c.831G>C (p.Gln277His)
n.518-262C>G
3g.177047372C>TCA2709884TBL1XR1,TBL1XR1-AS1c.792G>A (p.Gln264=)
c.531G>A (p.Gln177=)
c.397G>A
c.822G>A (p.Gln274=)
c.831G>A (p.Gln277=)
n.518-262C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.177047373T>ACA355552150TBL1XR1,TBL1XR1-AS1c.791A>T (p.Gln264Leu)
c.530A>T (p.Gln177Leu)
c.396A>T
c.821A>T (p.Gln274Leu)
c.830A>T (p.Gln277Leu)
n.518-261T>A
 COSMIC
3g.177047373T>CCA355552151TBL1XR1,TBL1XR1-AS1c.791A>G (p.Gln264Arg)
c.530A>G (p.Gln177Arg)
c.396A>G
c.821A>G (p.Gln274Arg)
c.830A>G (p.Gln277Arg)
n.518-261T>C
3g.177047373T>GCA355552152TBL1XR1,TBL1XR1-AS1c.791A>C (p.Gln264Pro)
c.530A>C (p.Gln177Pro)
c.396A>C
c.821A>C (p.Gln274Pro)
c.830A>C (p.Gln277Pro)
n.518-261T>G
3g.177047374G>ACA355552153TBL1XR1,TBL1XR1-AS1c.790C>T (p.Gln264Ter)
c.529C>T (p.Gln177Ter)
c.395C>T
c.820C>T (p.Gln274Ter)
c.829C>T (p.Gln277Ter)
n.518-260G>A
 gnomAD v4
3g.177047374G>CCA355552154TBL1XR1,TBL1XR1-AS1c.790C>G (p.Gln264Glu)
c.529C>G (p.Gln177Glu)
c.395C>G
c.820C>G (p.Gln274Glu)
c.829C>G (p.Gln277Glu)
n.518-260G>C
3g.177047374G>TCA355552155TBL1XR1,TBL1XR1-AS1c.790C>A (p.Gln264Lys)
c.529C>A (p.Gln177Lys)
c.395C>A
c.820C>A (p.Gln274Lys)
c.829C>A (p.Gln277Lys)
n.518-260G>T
 gnomAD v4
3g.177047375C>ACA436985702TBL1XR1,TBL1XR1-AS1c.789G>T (p.Gly263=)
c.528G>T (p.Gly176=)
c.394G>T
c.819G>T (p.Gly273=)
c.828G>T (p.Gly276=)
n.518-259C>A
 dbSNP gnomAD v2 gnomAD v4
3g.177047375C=CA1422667531TBL1XR1,TBL1XR1-AS1c.789G= (p.Gly263=)
c.528G= (p.Gly176=)
c.394G=
c.819G= (p.Gly273=)
c.828G= (p.Gly276=)
n.518-259C=
3g.177047375C>GCA436985701TBL1XR1,TBL1XR1-AS1c.789G>C (p.Gly263=)
c.528G>C (p.Gly176=)
c.394G>C
c.819G>C (p.Gly273=)
c.828G>C (p.Gly276=)
n.518-259C>G
3g.177047375C>TCA436985700TBL1XR1,TBL1XR1-AS1c.789G>A (p.Gly263=)
c.528G>A (p.Gly176=)
c.394G>A
c.819G>A (p.Gly273=)
c.828G>A (p.Gly276=)
n.518-259C>T
 dbSNP gnomAD v2 gnomAD v4
3g.177047377delCA2668596736TBL1XR1,TBL1XR1-AS1c.789del (p.Gln264SerfsTer9)
c.528del (p.Gln177SerfsTer9)
c.394del
c.819del (p.Gln274SerfsTer9)
c.828del (p.Gln277SerfsTer9)
n.518-257del
 gnomAD v4
3g.177047376C>ACA355552156TBL1XR1,TBL1XR1-AS1c.788G>T (p.Gly263Val)
c.527G>T (p.Gly176Val)
c.393G>T
c.818G>T (p.Gly273Val)
c.827G>T (p.Gly276Val)
n.518-258C>A
3g.177047376C>GCA355552158TBL1XR1,TBL1XR1-AS1c.788G>C (p.Gly263Ala)
c.527G>C (p.Gly176Ala)
c.393G>C
c.818G>C (p.Gly273Ala)
c.827G>C (p.Gly276Ala)
n.518-258C>G
3g.177047376C>TCA355552157TBL1XR1,TBL1XR1-AS1c.788G>A (p.Gly263Glu)
c.527G>A (p.Gly176Glu)
c.393G>A
c.818G>A (p.Gly273Glu)
c.827G>A (p.Gly276Glu)
n.518-258C>T
3g.177047377C>ACA355552159TBL1XR1,TBL1XR1-AS1c.787G>T (p.Gly263Trp)
c.526G>T (p.Gly176Trp)
c.392G>T
c.817G>T (p.Gly273Trp)
c.826G>T (p.Gly276Trp)
n.518-257C>A
3g.177047377C>GCA355552160TBL1XR1,TBL1XR1-AS1c.787G>C (p.Gly263Arg)
c.526G>C (p.Gly176Arg)
c.392G>C
c.817G>C (p.Gly273Arg)
c.826G>C (p.Gly276Arg)
n.518-257C>G
3g.177047377C>TCA355552161TBL1XR1,TBL1XR1-AS1c.787G>A (p.Gly263Arg)
c.526G>A (p.Gly176Arg)
c.392G>A
c.817G>A (p.Gly273Arg)
c.826G>A (p.Gly276Arg)
n.518-257C>T
 ClinVar dbSNP
3g.177047378T>ACA355552162TBL1XR1,TBL1XR1-AS1c.786A>T (p.Leu262Phe)
c.525A>T (p.Leu175Phe)
c.391A>T
c.816A>T (p.Leu272Phe)
c.825A>T (p.Leu275Phe)
n.518-256T>A
3g.177047378T>CCA436985703TBL1XR1,TBL1XR1-AS1c.786A>G (p.Leu262=)
c.525A>G (p.Leu175=)
c.391A>G
c.816A>G (p.Leu272=)
c.825A>G (p.Leu275=)
n.518-256T>C
3g.177047378T>GCA355552163TBL1XR1,TBL1XR1-AS1c.786A>C (p.Leu262Phe)
c.525A>C (p.Leu175Phe)
c.391A>C
c.816A>C (p.Leu272Phe)
c.825A>C (p.Leu275Phe)
n.518-256T>G
3g.177047379A>CCA355552166TBL1XR1,TBL1XR1-AS1c.785T>G (p.Leu262Ter)
c.524T>G (p.Leu175Ter)
c.390T>G
c.815T>G (p.Leu272Ter)
c.824T>G (p.Leu275Ter)
n.518-255A>C
3g.177047379A>GCA355552165TBL1XR1,TBL1XR1-AS1c.785T>C (p.Leu262Ser)
c.524T>C (p.Leu175Ser)
c.390T>C
c.815T>C (p.Leu272Ser)
c.824T>C (p.Leu275Ser)
n.518-255A>G
 COSMIC
3g.177047379A>TCA355552164TBL1XR1,TBL1XR1-AS1c.785T>A (p.Leu262Ter)
c.524T>A (p.Leu175Ter)
c.390T>A
c.815T>A (p.Leu272Ter)
c.824T>A (p.Leu275Ter)
n.518-255A>T
3g.177047380A>CCA355552167TBL1XR1,TBL1XR1-AS1c.784T>G (p.Leu262Val)
c.523T>G (p.Leu175Val)
c.389T>G
c.814T>G (p.Leu272Val)
c.823T>G (p.Leu275Val)
n.518-254A>C
3g.177047380A>GCA436985704TBL1XR1,TBL1XR1-AS1c.784T>C (p.Leu262=)
c.523T>C (p.Leu175=)
c.389T>C
c.814T>C (p.Leu272=)
c.823T>C (p.Leu275=)
n.518-254A>G
 gnomAD v4
3g.177047380A>TCA355552168TBL1XR1,TBL1XR1-AS1c.784T>A (p.Leu262Ile)
c.523T>A (p.Leu175Ile)
c.389T>A
c.814T>A (p.Leu272Ile)
c.823T>A (p.Leu275Ile)
n.518-254A>T
 gnomAD v4
3g.177047381G>ACA2709885TBL1XR1,TBL1XR1-AS1c.783C>T (p.Thr261=)
c.522C>T (p.Thr174=)
c.388C>T
c.813C>T (p.Thr271=)
c.822C>T (p.Thr274=)
n.518-253G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.177047381G>CCA436985706TBL1XR1,TBL1XR1-AS1c.783C>G (p.Thr261=)
c.522C>G (p.Thr174=)
c.388C>G
c.813C>G (p.Thr271=)
c.822C>G (p.Thr274=)
n.518-253G>C
 ClinVar
3g.177047381G=CA1422667532TBL1XR1,TBL1XR1-AS1c.783C= (p.Thr261=)
c.522C= (p.Thr174=)
c.388C=
c.813C= (p.Thr271=)
c.822C= (p.Thr274=)
n.518-253G=
3g.177047381G>TCA436985705TBL1XR1,TBL1XR1-AS1c.783C>A (p.Thr261=)
c.522C>A (p.Thr174=)
c.388C>A
c.813C>A (p.Thr271=)
c.822C>A (p.Thr274=)
n.518-253G>T
 gnomAD v4
3g.177047382G>ACA355552169TBL1XR1,TBL1XR1-AS1c.782C>T (p.Thr261Ile)
c.521C>T (p.Thr174Ile)
c.387C>T
c.812C>T (p.Thr271Ile)
c.821C>T (p.Thr274Ile)
n.518-252G>A
3g.177047382G>CCA355552170TBL1XR1,TBL1XR1-AS1c.782C>G (p.Thr261Ser)
c.521C>G (p.Thr174Ser)
c.387C>G
c.812C>G (p.Thr271Ser)
c.821C>G (p.Thr274Ser)
n.518-252G>C
3g.177047382G>TCA355552171TBL1XR1,TBL1XR1-AS1c.782C>A (p.Thr261Asn)
c.521C>A (p.Thr174Asn)
c.387C>A
c.812C>A (p.Thr271Asn)
c.821C>A (p.Thr274Asn)
n.518-252G>T
3g.177047383T>ACA355552172TBL1XR1,TBL1XR1-AS1c.781A>T (p.Thr261Ser)
c.520A>T (p.Thr174Ser)
c.386A>T
c.811A>T (p.Thr271Ser)
c.820A>T (p.Thr274Ser)
n.518-251T>A
3g.177047383T>CCA355552174TBL1XR1,TBL1XR1-AS1c.781A>G (p.Thr261Ala)
c.520A>G (p.Thr174Ala)
c.386A>G
c.811A>G (p.Thr271Ala)
c.820A>G (p.Thr274Ala)
n.518-251T>C
3g.177047383T>GCA355552173TBL1XR1,TBL1XR1-AS1c.781A>C (p.Thr261Pro)
c.520A>C (p.Thr174Pro)
c.386A>C
c.811A>C (p.Thr271Pro)
c.820A>C (p.Thr274Pro)
n.518-251T>G
3g.177047384G>ACA436985707TBL1XR1,TBL1XR1-AS1c.780C>T (p.Ser260=)
c.519C>T (p.Ser173=)
c.385C>T
c.810C>T (p.Ser270=)
c.819C>T (p.Ser273=)
n.518-250G>A
 ClinVar dbSNP gnomAD v2
3g.177047384G>CCA355552175TBL1XR1,TBL1XR1-AS1c.780C>G (p.Ser260Arg)
c.519C>G (p.Ser173Arg)
c.385C>G
c.810C>G (p.Ser270Arg)
c.819C>G (p.Ser273Arg)
n.518-250G>C
3g.177047384G=CA1422667533TBL1XR1,TBL1XR1-AS1c.780C= (p.Ser260=)
c.519C= (p.Ser173=)
c.385C=
c.810C= (p.Ser270=)
c.819C= (p.Ser273=)
n.518-250G=
3g.177047384G>TCA355552176TBL1XR1,TBL1XR1-AS1c.780C>A (p.Ser260Arg)
c.519C>A (p.Ser173Arg)
c.385C>A
c.810C>A (p.Ser270Arg)
c.819C>A (p.Ser273Arg)
n.518-250G>T
 gnomAD v4
3g.177047384_177047388dupCA2697556989TBL1XR1,TBL1XR1-AS1c.776_780dup (p.Thr261LeufsTer4)
c.515_519dup (p.Thr174LeufsTer4)
c.381_385dup
c.806_810dup (p.Thr271LeufsTer4)
c.815_819dup (p.Thr274LeufsTer4)
n.518-250_518-246dup
 ClinVar
3g.177047385C>ACA355552177TBL1XR1,TBL1XR1-AS1c.779G>T (p.Ser260Ile)
c.518G>T (p.Ser173Ile)
c.384G>T
c.809G>T (p.Ser270Ile)
c.818G>T (p.Ser273Ile)
n.518-249C>A
3g.177047385C=CA1422667534TBL1XR1,TBL1XR1-AS1c.779G= (p.Ser260=)
c.518G= (p.Ser173=)
c.384G=
c.809G= (p.Ser270=)
c.818G= (p.Ser273=)
n.518-249C=
3g.177047385C>GCA355552178TBL1XR1,TBL1XR1-AS1c.779G>C (p.Ser260Thr)
c.518G>C (p.Ser173Thr)
c.384G>C
c.809G>C (p.Ser270Thr)
c.818G>C (p.Ser273Thr)
n.518-249C>G
3g.177047385C>TCA2709886TBL1XR1,TBL1XR1-AS1c.779G>A (p.Ser260Asn)
c.518G>A (p.Ser173Asn)
c.384G>A
c.809G>A (p.Ser270Asn)
c.818G>A (p.Ser273Asn)
n.518-249C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.177047386T>ACA355552179TBL1XR1,TBL1XR1-AS1c.778A>T (p.Ser260Cys)
c.517A>T (p.Ser173Cys)
c.383A>T
c.808A>T (p.Ser270Cys)
c.817A>T (p.Ser273Cys)
n.518-248T>A
3g.177047386T>CCA355552180TBL1XR1,TBL1XR1-AS1c.778A>G (p.Ser260Gly)
c.517A>G (p.Ser173Gly)
c.383A>G
c.808A>G (p.Ser270Gly)
c.817A>G (p.Ser273Gly)
n.518-248T>C
3g.177047386T>GCA355552181TBL1XR1,TBL1XR1-AS1c.778A>C (p.Ser260Arg)
c.517A>C (p.Ser173Arg)
c.383A>C
c.808A>C (p.Ser270Arg)
c.817A>C (p.Ser273Arg)
n.518-248T>G
3g.177047387A>CCA436985708TBL1XR1,TBL1XR1-AS1c.777T>G (p.Ala259=)
c.516T>G (p.Ala172=)
c.382T>G
c.807T>G (p.Ala269=)
c.816T>G (p.Ala272=)
n.518-247A>C
3g.177047387A>GCA436985709TBL1XR1,TBL1XR1-AS1c.777T>C (p.Ala259=)
c.516T>C (p.Ala172=)
c.382T>C
c.807T>C (p.Ala269=)
c.816T>C (p.Ala272=)
n.518-247A>G
3g.177047387A>TCA436985710TBL1XR1,TBL1XR1-AS1c.777T>A (p.Ala259=)
c.516T>A (p.Ala172=)
c.382T>A
c.807T>A (p.Ala269=)
c.816T>A (p.Ala272=)
n.518-247A>T
3g.177047388G>ACA355552182TBL1XR1,TBL1XR1-AS1c.776C>T (p.Ala259Val)
c.515C>T (p.Ala172Val)
c.381C>T
c.806C>T (p.Ala269Val)
c.815C>T (p.Ala272Val)
n.518-246G>A
3g.177047388G>CCA355552183TBL1XR1,TBL1XR1-AS1c.776C>G (p.Ala259Gly)
c.515C>G (p.Ala172Gly)
c.381C>G
c.806C>G (p.Ala269Gly)
c.815C>G (p.Ala272Gly)
n.518-246G>C
 gnomAD v4
3g.177047388G>TCA355552184TBL1XR1,TBL1XR1-AS1c.776C>A (p.Ala259Asp)
c.515C>A (p.Ala172Asp)
c.381C>A
c.806C>A (p.Ala269Asp)
c.815C>A (p.Ala272Asp)
n.518-246G>T
3g.177047389C>ACA355552185TBL1XR1,TBL1XR1-AS1c.775G>T (p.Ala259Ser)
c.514G>T (p.Ala172Ser)
c.380G>T
c.805G>T (p.Ala269Ser)
c.814G>T (p.Ala272Ser)
n.518-245C>A
 gnomAD v4
3g.177047389C>GCA355552187TBL1XR1,TBL1XR1-AS1c.775G>C (p.Ala259Pro)
c.514G>C (p.Ala172Pro)
c.380G>C
c.805G>C (p.Ala269Pro)
c.814G>C (p.Ala272Pro)
n.518-245C>G
3g.177047389C>TCA355552186TBL1XR1,TBL1XR1-AS1c.775G>A (p.Ala259Thr)
c.514G>A (p.Ala172Thr)
c.380G>A
c.805G>A (p.Ala269Thr)
c.814G>A (p.Ala272Thr)
n.518-245C>T
3g.177047390A>CCA436985711TBL1XR1,TBL1XR1-AS1c.774T>G (p.Leu258=)
c.513T>G (p.Leu171=)
c.379T>G
c.804T>G (p.Leu268=)
c.813T>G (p.Leu271=)
n.518-244A>C
3g.177047390A>GCA436985712TBL1XR1,TBL1XR1-AS1c.774T>C (p.Leu258=)
c.513T>C (p.Leu171=)
c.379T>C
c.804T>C (p.Leu268=)
c.813T>C (p.Leu271=)
n.518-244A>G
3g.177047390A>TCA436985713TBL1XR1,TBL1XR1-AS1c.774T>A (p.Leu258=)
c.513T>A (p.Leu171=)
c.379T>A
c.804T>A (p.Leu268=)
c.813T>A (p.Leu271=)
n.518-244A>T
3g.177047391A>CCA355552188TBL1XR1,TBL1XR1-AS1c.773T>G (p.Leu258Arg)
c.512T>G (p.Leu171Arg)
c.378T>G
c.803T>G (p.Leu268Arg)
c.812T>G (p.Leu271Arg)
n.518-243A>C
3g.177047391A>GCA355552190TBL1XR1,TBL1XR1-AS1c.773T>C (p.Leu258Pro)
c.512T>C (p.Leu171Pro)
c.378T>C
c.803T>C (p.Leu268Pro)
c.812T>C (p.Leu271Pro)
n.518-243A>G
3g.177047391A>TCA355552189TBL1XR1,TBL1XR1-AS1c.773T>A (p.Leu258His)
c.512T>A (p.Leu171His)
c.378T>A
c.803T>A (p.Leu268His)
c.812T>A (p.Leu271His)
n.518-243A>T
3g.177047392G>ACA355552191TBL1XR1,TBL1XR1-AS1c.772C>T (p.Leu258Phe)
c.511C>T (p.Leu171Phe)
c.377C>T
c.802C>T (p.Leu268Phe)
c.811C>T (p.Leu271Phe)
n.518-242G>A
3g.177047392G>CCA355552192TBL1XR1,TBL1XR1-AS1c.772C>G (p.Leu258Val)
c.511C>G (p.Leu171Val)
c.377C>G
c.802C>G (p.Leu268Val)
c.811C>G (p.Leu271Val)
n.518-242G>C
 ClinVar dbSNP
3g.177047392G>TCA355552193TBL1XR1,TBL1XR1-AS1c.772C>A (p.Leu258Ile)
c.511C>A (p.Leu171Ile)
c.377C>A
c.802C>A (p.Leu268Ile)
c.811C>A (p.Leu271Ile)
n.518-242G>T
3g.177047393G>ACA436985714TBL1XR1,TBL1XR1-AS1c.771C>T (p.Asn257=)
c.510C>T (p.Asn170=)
c.376C>T
c.801C>T (p.Asn267=)
c.810C>T (p.Asn270=)
n.518-241G>A
 gnomAD v4
3g.177047393G>CCA355552194TBL1XR1,TBL1XR1-AS1c.771C>G (p.Asn257Lys)
c.510C>G (p.Asn170Lys)
c.376C>G
c.801C>G (p.Asn267Lys)
c.810C>G (p.Asn270Lys)
n.518-241G>C
 gnomAD v4
3g.177047393G=CA1422667535TBL1XR1,TBL1XR1-AS1c.771C= (p.Asn257=)
c.510C= (p.Asn170=)
c.376C=
c.801C= (p.Asn267=)
c.810C= (p.Asn270=)
n.518-241G=
3g.177047393G>TCA355552195TBL1XR1,TBL1XR1-AS1c.771C>A (p.Asn257Lys)
c.510C>A (p.Asn170Lys)
c.376C>A
c.801C>A (p.Asn267Lys)
c.810C>A (p.Asn270Lys)
n.518-241G>T
 dbSNP gnomAD v3 gnomAD v4
3g.177047394T>ACA355552196TBL1XR1,TBL1XR1-AS1c.770A>T (p.Asn257Ile)
c.509A>T (p.Asn170Ile)
c.375A>T
c.800A>T (p.Asn267Ile)
c.809A>T (p.Asn270Ile)
n.518-240T>A
3g.177047394T>CCA355552197TBL1XR1,TBL1XR1-AS1c.770A>G (p.Asn257Ser)
c.509A>G (p.Asn170Ser)
c.375A>G
c.800A>G (p.Asn267Ser)
c.809A>G (p.Asn270Ser)
n.518-240T>C
3g.177047394T>GCA355552198TBL1XR1,TBL1XR1-AS1c.770A>C (p.Asn257Thr)
c.509A>C (p.Asn170Thr)
c.375A>C
c.800A>C (p.Asn267Thr)
c.809A>C (p.Asn270Thr)
n.518-240T>G
3g.177047399_177047486delCA2668596737TBL1XR1,TBL1XR1-AS1c.766+5_770del
c.505+5_509del
c.371+5_375del
c.796+5_800del
c.805+5_809del
n.518-235_518-148del
 gnomAD v4
3g.177047395T>ACA355552199TBL1XR1,TBL1XR1-AS1c.769A>T (p.Asn257Tyr)
c.508A>T (p.Asn170Tyr)
c.374A>T
c.799A>T (p.Asn267Tyr)
c.808A>T (p.Asn270Tyr)
n.518-239T>A
3g.177047395T>CCA355552200TBL1XR1,TBL1XR1-AS1c.769A>G (p.Asn257Asp)
c.508A>G (p.Asn170Asp)
c.374A>G
c.799A>G (p.Asn267Asp)
c.808A>G (p.Asn270Asp)
n.518-239T>C
3g.177047395T>GCA355552201TBL1XR1,TBL1XR1-AS1c.769A>C (p.Asn257His)
c.508A>C (p.Asn170His)
c.374A>C
c.799A>C (p.Asn267His)
c.808A>C (p.Asn270His)
n.518-239T>G
3g.177047396A>CCA436985715TBL1XR1,TBL1XR1-AS1c.768T>G (p.Gly256=)
c.507T>G (p.Gly169=)
c.373T>G
c.798T>G (p.Gly266=)
c.807T>G (p.Gly269=)
n.518-238A>C
3g.177047396A>GCA436985716TBL1XR1,TBL1XR1-AS1c.768T>C (p.Gly256=)
c.507T>C (p.Gly169=)
c.373T>C
c.798T>C (p.Gly266=)
c.807T>C (p.Gly269=)
n.518-238A>G
3g.177047396A>TCA436985717TBL1XR1,TBL1XR1-AS1c.768T>A (p.Gly256=)
c.507T>A (p.Gly169=)
c.373T>A
c.798T>A (p.Gly266=)
c.807T>A (p.Gly269=)
n.518-238A>T

Number of alleles fetched