Chr Mutation (hg38) CAid Gene Transcript Linkouts
3g.177038099_177038111delCA645526862TBL1XR1,TBL1XR1-AS1c.1109_1121del (p.Asp370GlyfsTer5)
c.848_860del (p.Asp283GlyfsTer5)
n.294_306del
c.708_720del
c.1139_1151del (p.Asp380GlyfsTer5)
c.1148_1160del (p.Asp383GlyfsTer5)
n.341-263_341-251del
 COSMIC
3g.177038102A>CCA355554930TBL1XR1,TBL1XR1-AS1c.1118T>G (p.Leu373Ter)
c.857T>G (p.Leu286Ter)
n.303T>G
c.717T>G
c.1148T>G (p.Leu383Ter)
c.1157T>G (p.Leu386Ter)
n.341-260A>C
3g.177038102A>GCA355554931TBL1XR1,TBL1XR1-AS1c.1118T>C (p.Leu373Ser)
c.857T>C (p.Leu286Ser)
n.303T>C
c.717T>C
c.1148T>C (p.Leu383Ser)
c.1157T>C (p.Leu386Ser)
n.341-260A>G
3g.177038102A>TCA355554933TBL1XR1,TBL1XR1-AS1c.1118T>A (p.Leu373Ter)
c.857T>A (p.Leu286Ter)
n.303T>A
c.717T>A
c.1148T>A (p.Leu383Ter)
c.1157T>A (p.Leu386Ter)
n.341-260A>T
3g.177038103A>CCA355554936TBL1XR1,TBL1XR1-AS1c.1117T>G (p.Leu373Val)
c.856T>G (p.Leu286Val)
n.302T>G
c.716T>G
c.1147T>G (p.Leu383Val)
c.1156T>G (p.Leu386Val)
n.341-259A>C
3g.177038103A>GCA436985623TBL1XR1,TBL1XR1-AS1c.1117T>C (p.Leu373=)
c.856T>C (p.Leu286=)
n.302T>C
c.716T>C
c.1147T>C (p.Leu383=)
c.1156T>C (p.Leu386=)
n.341-259A>G
3g.177038103A>TCA355554935TBL1XR1,TBL1XR1-AS1c.1117T>A (p.Leu373Ile)
c.856T>A (p.Leu286Ile)
n.302T>A
c.716T>A
c.1147T>A (p.Leu383Ile)
c.1156T>A (p.Leu386Ile)
n.341-259A>T
3g.177038104A>CCA436985624TBL1XR1,TBL1XR1-AS1c.1116T>G (p.Thr372=)
c.855T>G (p.Thr285=)
n.301T>G
c.715T>G
c.1146T>G (p.Thr382=)
c.1155T>G (p.Thr385=)
n.341-258A>C
3g.177038104A>GCA436985625TBL1XR1,TBL1XR1-AS1c.1116T>C (p.Thr372=)
c.855T>C (p.Thr285=)
n.301T>C
c.715T>C
c.1146T>C (p.Thr382=)
c.1155T>C (p.Thr385=)
n.341-258A>G
3g.177038104A>TCA436985626TBL1XR1,TBL1XR1-AS1c.1116T>A (p.Thr372=)
c.855T>A (p.Thr285=)
n.301T>A
c.715T>A
c.1146T>A (p.Thr382=)
c.1155T>A (p.Thr385=)
n.341-258A>T
3g.177038105G>ACA355554937TBL1XR1,TBL1XR1-AS1c.1115C>T (p.Thr372Ile)
c.854C>T (p.Thr285Ile)
n.300C>T
c.714C>T
c.1145C>T (p.Thr382Ile)
c.1154C>T (p.Thr385Ile)
n.341-257G>A
3g.177038105G>CCA355554938TBL1XR1,TBL1XR1-AS1c.1115C>G (p.Thr372Ser)
c.854C>G (p.Thr285Ser)
n.300C>G
c.714C>G
c.1145C>G (p.Thr382Ser)
c.1154C>G (p.Thr385Ser)
n.341-257G>C
3g.177038105G>TCA355554940TBL1XR1,TBL1XR1-AS1c.1115C>A (p.Thr372Asn)
c.854C>A (p.Thr285Asn)
n.300C>A
c.714C>A
c.1145C>A (p.Thr382Asn)
c.1154C>A (p.Thr385Asn)
n.341-257G>T
3g.177038106T>ACA355554942TBL1XR1,TBL1XR1-AS1c.1114A>T (p.Thr372Ser)
c.853A>T (p.Thr285Ser)
n.299A>T
c.713A>T
c.1144A>T (p.Thr382Ser)
c.1153A>T (p.Thr385Ser)
n.341-256T>A
3g.177038106T>CCA355554944TBL1XR1,TBL1XR1-AS1c.1114A>G (p.Thr372Ala)
c.853A>G (p.Thr285Ala)
n.299A>G
c.713A>G
c.1144A>G (p.Thr382Ala)
c.1153A>G (p.Thr385Ala)
n.341-256T>C
 gnomAD v4
3g.177038106T>GCA355554945TBL1XR1,TBL1XR1-AS1c.1114A>C (p.Thr372Pro)
c.853A>C (p.Thr285Pro)
n.299A>C
c.713A>C
c.1144A>C (p.Thr382Pro)
c.1153A>C (p.Thr385Pro)
n.341-256T>G
3g.177038107C>ACA355554949TBL1XR1,TBL1XR1-AS1c.1113G>T (p.Met371Ile)
c.852G>T (p.Met284Ile)
n.298G>T
c.712G>T
c.1143G>T (p.Met381Ile)
c.1152G>T (p.Met384Ile)
n.341-255C>A
 gnomAD v4
3g.177038107C>GCA355554948TBL1XR1,TBL1XR1-AS1c.1113G>C (p.Met371Ile)
c.852G>C (p.Met284Ile)
n.298G>C
c.712G>C
c.1143G>C (p.Met381Ile)
c.1152G>C (p.Met384Ile)
n.341-255C>G
3g.177038107C>TCA355554946TBL1XR1,TBL1XR1-AS1c.1113G>A (p.Met371Ile)
c.852G>A (p.Met284Ile)
n.298G>A
c.712G>A
c.1143G>A (p.Met381Ile)
c.1152G>A (p.Met384Ile)
n.341-255C>T
3g.177038108A>CCA355554951TBL1XR1,TBL1XR1-AS1c.1112T>G (p.Met371Arg)
c.851T>G (p.Met284Arg)
n.297T>G
c.711T>G
c.1142T>G (p.Met381Arg)
c.1151T>G (p.Met384Arg)
n.341-254A>C
3g.177038108A>GCA355554954TBL1XR1,TBL1XR1-AS1c.1112T>C (p.Met371Thr)
c.851T>C (p.Met284Thr)
n.297T>C
c.711T>C
c.1142T>C (p.Met381Thr)
c.1151T>C (p.Met384Thr)
n.341-254A>G
3g.177038108A>TCA355554953TBL1XR1,TBL1XR1-AS1c.1112T>A (p.Met371Lys)
c.851T>A (p.Met284Lys)
n.297T>A
c.711T>A
c.1142T>A (p.Met381Lys)
c.1151T>A (p.Met384Lys)
n.341-254A>T
3g.177038109T>ACA355554955TBL1XR1,TBL1XR1-AS1c.1111A>T (p.Met371Leu)
c.850A>T (p.Met284Leu)
n.296A>T
c.710A>T
c.1141A>T (p.Met381Leu)
c.1150A>T (p.Met384Leu)
n.341-253T>A
3g.177038109T>CCA355554958TBL1XR1,TBL1XR1-AS1c.1111A>G (p.Met371Val)
c.850A>G (p.Met284Val)
n.296A>G
c.710A>G
c.1141A>G (p.Met381Val)
c.1150A>G (p.Met384Val)
n.341-253T>C
3g.177038109T>GCA355554957TBL1XR1,TBL1XR1-AS1c.1111A>C (p.Met371Leu)
c.850A>C (p.Met284Leu)
n.296A>C
c.710A>C
c.1141A>C (p.Met381Leu)
c.1150A>C (p.Met384Leu)
n.341-253T>G
3g.177038110G>ACA436985631TBL1XR1,TBL1XR1-AS1c.1110C>T (p.Asp370=)
c.849C>T (p.Asp283=)
n.295C>T
c.709C>T
c.1140C>T (p.Asp380=)
c.1149C>T (p.Asp383=)
n.341-252G>A
 dbSNP gnomAD v2 gnomAD v4
3g.177038110G>CCA355554960TBL1XR1,TBL1XR1-AS1c.1110C>G (p.Asp370Glu)
c.849C>G (p.Asp283Glu)
n.295C>G
c.709C>G
c.1140C>G (p.Asp380Glu)
c.1149C>G (p.Asp383Glu)
n.341-252G>C
3g.177038110G=CA1422663050TBL1XR1,TBL1XR1-AS1c.1110C= (p.Asp370=)
c.849C= (p.Asp283=)
n.295C=
c.709C=
c.1140C= (p.Asp380=)
c.1149C= (p.Asp383=)
n.341-252G=
3g.177038110G>TCA355554961TBL1XR1,TBL1XR1-AS1c.1110C>A (p.Asp370Glu)
c.849C>A (p.Asp283Glu)
n.295C>A
c.709C>A
c.1140C>A (p.Asp380Glu)
c.1149C>A (p.Asp383Glu)
n.341-252G>T
3g.177038111T>ACA355554962TBL1XR1,TBL1XR1-AS1c.1109A>T (p.Asp370Val)
c.848A>T (p.Asp283Val)
n.294A>T
c.708A>T
c.1139A>T (p.Asp380Val)
c.1148A>T (p.Asp383Val)
n.341-251T>A
3g.177038111T>CCA355554965TBL1XR1,TBL1XR1-AS1c.1109A>G (p.Asp370Gly)
c.848A>G (p.Asp283Gly)
n.294A>G
c.708A>G
c.1139A>G (p.Asp380Gly)
c.1148A>G (p.Asp383Gly)
n.341-251T>C
 ClinVar dbSNP
3g.177038111T>GCA355554963TBL1XR1,TBL1XR1-AS1c.1109A>C (p.Asp370Ala)
c.848A>C (p.Asp283Ala)
n.294A>C
c.708A>C
c.1139A>C (p.Asp380Ala)
c.1148A>C (p.Asp383Ala)
n.341-251T>G
3g.177038111T=CA1422663051TBL1XR1,TBL1XR1-AS1c.1109A= (p.Asp370=)
c.848A= (p.Asp283=)
n.294A=
c.708A=
c.1139A= (p.Asp380=)
c.1148A= (p.Asp383=)
n.341-251T=
3g.177038112C>ACA355554967TBL1XR1,TBL1XR1-AS1c.1108G>T (p.Asp370Tyr)
c.847G>T (p.Asp283Tyr)
n.293G>T
c.707G>T
c.1138G>T (p.Asp380Tyr)
c.1147G>T (p.Asp383Tyr)
n.341-250C>A
3g.177038112C=CA1422663052TBL1XR1,TBL1XR1-AS1c.1108G= (p.Asp370=)
c.847G= (p.Asp283=)
n.293G=
c.707G=
c.1138G= (p.Asp380=)
c.1147G= (p.Asp383=)
n.341-250C=
3g.177038112C>GCA355554968TBL1XR1,TBL1XR1-AS1c.1108G>C (p.Asp370His)
c.847G>C (p.Asp283His)
n.293G>C
c.707G>C
c.1138G>C (p.Asp380His)
c.1147G>C (p.Asp383His)
n.341-250C>G
 ClinVar
3g.177038112C>TCA16042430TBL1XR1,TBL1XR1-AS1c.1108G>A (p.Asp370Asn)
c.847G>A (p.Asp283Asn)
n.293G>A
c.707G>A
c.1138G>A (p.Asp380Asn)
c.1147G>A (p.Asp383Asn)
n.341-250C>T
 ClinVar dbSNP COSMIC
3g.177038113G>ACA2709837TBL1XR1,TBL1XR1-AS1c.1107C>T (p.Asp369=)
c.846C>T (p.Asp282=)
n.292C>T
c.706C>T
c.1137C>T (p.Asp379=)
c.1146C>T (p.Asp382=)
n.341-249G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.177038113G>CCA355554971TBL1XR1,TBL1XR1-AS1c.1107C>G (p.Asp369Glu)
c.846C>G (p.Asp282Glu)
n.292C>G
c.706C>G
c.1137C>G (p.Asp379Glu)
c.1146C>G (p.Asp382Glu)
n.341-249G>C
3g.177038113G=CA1422663053TBL1XR1,TBL1XR1-AS1c.1107C= (p.Asp369=)
c.846C= (p.Asp282=)
n.292C=
c.706C=
c.1137C= (p.Asp379=)
c.1146C= (p.Asp382=)
n.341-249G=
3g.177038113G>TCA355554972TBL1XR1,TBL1XR1-AS1c.1107C>A (p.Asp369Glu)
c.846C>A (p.Asp282Glu)
n.292C>A
c.706C>A
c.1137C>A (p.Asp379Glu)
c.1146C>A (p.Asp382Glu)
n.341-249G>T
3g.177038114T>ACA355554974TBL1XR1,TBL1XR1-AS1c.1106A>T (p.Asp369Val)
c.845A>T (p.Asp282Val)
n.291A>T
c.705A>T
c.1136A>T (p.Asp379Val)
c.1145A>T (p.Asp382Val)
n.341-248T>A
 COSMIC
3g.177038114T>CCA355554975TBL1XR1,TBL1XR1-AS1c.1106A>G (p.Asp369Gly)
c.845A>G (p.Asp282Gly)
n.291A>G
c.705A>G
c.1136A>G (p.Asp379Gly)
c.1145A>G (p.Asp382Gly)
n.341-248T>C
 ClinVar COSMIC
3g.177038114T>GCA355554976TBL1XR1,TBL1XR1-AS1c.1106A>C (p.Asp369Ala)
c.845A>C (p.Asp282Ala)
n.291A>C
c.705A>C
c.1136A>C (p.Asp379Ala)
c.1145A>C (p.Asp382Ala)
n.341-248T>G
3g.177038115C>ACA355554977TBL1XR1,TBL1XR1-AS1c.1105G>T (p.Asp369Tyr)
c.844G>T (p.Asp282Tyr)
n.290G>T
c.704G>T
c.1135G>T (p.Asp379Tyr)
c.1144G>T (p.Asp382Tyr)
n.341-247C>A
 COSMIC
3g.177038115C>GCA355554979TBL1XR1,TBL1XR1-AS1c.1105G>C (p.Asp369His)
c.844G>C (p.Asp282His)
n.290G>C
c.704G>C
c.1135G>C (p.Asp379His)
c.1144G>C (p.Asp382His)
n.341-247C>G
 COSMIC
3g.177038115C>TCA355554980TBL1XR1,TBL1XR1-AS1c.1105G>A (p.Asp369Asn)
c.844G>A (p.Asp282Asn)
n.290G>A
c.704G>A
c.1135G>A (p.Asp379Asn)
c.1144G>A (p.Asp382Asn)
n.341-247C>T
3g.177038116A=CA1422663054TBL1XR1,TBL1XR1-AS1c.1104T= (p.Ser368=)
c.843T= (p.Ser281=)
n.289T=
c.703T=
c.1134T= (p.Ser378=)
c.1143T= (p.Ser381=)
n.341-246A=
3g.177038116A>CCA2709838TBL1XR1,TBL1XR1-AS1c.1104T>G (p.Ser368=)
c.843T>G (p.Ser281=)
n.289T>G
c.703T>G
c.1134T>G (p.Ser378=)
c.1143T>G (p.Ser381=)
n.341-246A>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.177038116A>GCA436985638TBL1XR1,TBL1XR1-AS1c.1104T>C (p.Ser368=)
c.843T>C (p.Ser281=)
n.289T>C
c.703T>C
c.1134T>C (p.Ser378=)
c.1143T>C (p.Ser381=)
n.341-246A>G
 gnomAD v4
3g.177038116A>TCA436985639TBL1XR1,TBL1XR1-AS1c.1104T>A (p.Ser368=)
c.843T>A (p.Ser281=)
n.289T>A
c.703T>A
c.1134T>A (p.Ser378=)
c.1143T>A (p.Ser381=)
n.341-246A>T
3g.177038117G>ACA355554982TBL1XR1,TBL1XR1-AS1c.1103C>T (p.Ser368Phe)
c.842C>T (p.Ser281Phe)
n.288C>T
c.702C>T
c.1133C>T (p.Ser378Phe)
c.1142C>T (p.Ser381Phe)
n.341-245G>A
 ClinVar dbSNP
3g.177038117G>CCA355554983TBL1XR1,TBL1XR1-AS1c.1103C>G (p.Ser368Cys)
c.842C>G (p.Ser281Cys)
n.288C>G
c.702C>G
c.1133C>G (p.Ser378Cys)
c.1142C>G (p.Ser381Cys)
n.341-245G>C
3g.177038117G=CA1422663055TBL1XR1,TBL1XR1-AS1c.1103C= (p.Ser368=)
c.842C= (p.Ser281=)
n.288C=
c.702C=
c.1133C= (p.Ser378=)
c.1142C= (p.Ser381=)
n.341-245G=
3g.177038117G>TCA355554985TBL1XR1,TBL1XR1-AS1c.1103C>A (p.Ser368Tyr)
c.842C>A (p.Ser281Tyr)
n.288C>A
c.702C>A
c.1133C>A (p.Ser378Tyr)
c.1142C>A (p.Ser381Tyr)
n.341-245G>T
3g.177038118A>CCA355554986TBL1XR1,TBL1XR1-AS1c.1102T>G (p.Ser368Ala)
c.841T>G (p.Ser281Ala)
n.287T>G
c.701T>G
c.1132T>G (p.Ser378Ala)
c.1141T>G (p.Ser381Ala)
n.341-244A>C
3g.177038118A>GCA355554988TBL1XR1,TBL1XR1-AS1c.1102T>C (p.Ser368Pro)
c.841T>C (p.Ser281Pro)
n.287T>C
c.701T>C
c.1132T>C (p.Ser378Pro)
c.1141T>C (p.Ser381Pro)
n.341-244A>G
3g.177038118A>TCA355554989TBL1XR1,TBL1XR1-AS1c.1102T>A (p.Ser368Thr)
c.841T>A (p.Ser281Thr)
n.287T>A
c.701T>A
c.1132T>A (p.Ser378Thr)
c.1141T>A (p.Ser381Thr)
n.341-244A>T
3g.177038119A>CCA355554991TBL1XR1,TBL1XR1-AS1c.1101T>G (p.Cys367Trp)
c.840T>G (p.Cys280Trp)
n.286T>G
c.700T>G
c.1131T>G (p.Cys377Trp)
c.1140T>G (p.Cys380Trp)
n.341-243A>C
3g.177038119A>GCA436985641TBL1XR1,TBL1XR1-AS1c.1101T>C (p.Cys367=)
c.840T>C (p.Cys280=)
n.286T>C
c.700T>C
c.1131T>C (p.Cys377=)
c.1140T>C (p.Cys380=)
n.341-243A>G
3g.177038119A>TCA355554992TBL1XR1,TBL1XR1-AS1c.1101T>A (p.Cys367Ter)
c.840T>A (p.Cys280Ter)
n.286T>A
c.700T>A
c.1131T>A (p.Cys377Ter)
c.1140T>A (p.Cys380Ter)
n.341-243A>T
3g.177038120C>ACA355554993TBL1XR1,TBL1XR1-AS1c.1100G>T (p.Cys367Phe)
c.839G>T (p.Cys280Phe)
n.285G>T
c.699G>T
c.1130G>T (p.Cys377Phe)
c.1139G>T (p.Cys380Phe)
n.341-242C>A
 ClinVar dbSNP
3g.177038120C=CA1422663056TBL1XR1,TBL1XR1-AS1c.1100G= (p.Cys367=)
c.839G= (p.Cys280=)
n.285G=
c.699G=
c.1130G= (p.Cys377=)
c.1139G= (p.Cys380=)
n.341-242C=
3g.177038120C>GCA355554995TBL1XR1,TBL1XR1-AS1c.1100G>C (p.Cys367Ser)
c.839G>C (p.Cys280Ser)
n.285G>C
c.699G>C
c.1130G>C (p.Cys377Ser)
c.1139G>C (p.Cys380Ser)
n.341-242C>G
3g.177038120C>TCA355554996TBL1XR1,TBL1XR1-AS1c.1100G>A (p.Cys367Tyr)
c.839G>A (p.Cys280Tyr)
n.285G>A
c.699G>A
c.1130G>A (p.Cys377Tyr)
c.1139G>A (p.Cys380Tyr)
n.341-242C>T
3g.177038121A>CCA355555000TBL1XR1,TBL1XR1-AS1c.1099T>G (p.Cys367Gly)
c.838T>G (p.Cys280Gly)
n.284T>G
c.698T>G
c.1129T>G (p.Cys377Gly)
c.1138T>G (p.Cys380Gly)
n.341-241A>C
3g.177038121A>GCA355555001TBL1XR1,TBL1XR1-AS1c.1099T>C (p.Cys367Arg)
c.838T>C (p.Cys280Arg)
n.284T>C
c.698T>C
c.1129T>C (p.Cys377Arg)
c.1138T>C (p.Cys380Arg)
n.341-241A>G
3g.177038121A>TCA355554998TBL1XR1,TBL1XR1-AS1c.1099T>A (p.Cys367Ser)
c.838T>A (p.Cys280Ser)
n.284T>A
c.698T>A
c.1129T>A (p.Cys377Ser)
c.1138T>A (p.Cys380Ser)
n.341-241A>T
3g.177038122G>ACA436985643TBL1XR1,TBL1XR1-AS1c.1098C>T (p.Ser366=)
c.837C>T (p.Ser279=)
n.283C>T
c.697C>T
c.1128C>T (p.Ser376=)
c.1137C>T (p.Ser379=)
n.341-240G>A
 gnomAD v4
3g.177038122G>CCA436985644TBL1XR1,TBL1XR1-AS1c.1098C>G (p.Ser366=)
c.837C>G (p.Ser279=)
n.283C>G
c.697C>G
c.1128C>G (p.Ser376=)
c.1137C>G (p.Ser379=)
n.341-240G>C
 gnomAD v4
3g.177038122G>TCA436985645TBL1XR1,TBL1XR1-AS1c.1098C>A (p.Ser366=)
c.837C>A (p.Ser279=)
n.283C>A
c.697C>A
c.1128C>A (p.Ser376=)
c.1137C>A (p.Ser379=)
n.341-240G>T
 gnomAD v4
3g.177038123G>ACA355555002TBL1XR1,TBL1XR1-AS1c.1097C>T (p.Ser366Phe)
c.836C>T (p.Ser279Phe)
n.282C>T
c.696C>T
c.1127C>T (p.Ser376Phe)
c.1136C>T (p.Ser379Phe)
n.341-239G>A
 ClinVar dbSNP COSMIC
3g.177038123G>CCA355555003TBL1XR1,TBL1XR1-AS1c.1097C>G (p.Ser366Cys)
c.836C>G (p.Ser279Cys)
n.282C>G
c.696C>G
c.1127C>G (p.Ser376Cys)
c.1136C>G (p.Ser379Cys)
n.341-239G>C
3g.177038123G>TCA355555004TBL1XR1,TBL1XR1-AS1c.1097C>A (p.Ser366Tyr)
c.836C>A (p.Ser279Tyr)
n.282C>A
c.696C>A
c.1127C>A (p.Ser376Tyr)
c.1136C>A (p.Ser379Tyr)
n.341-239G>T
3g.177038124A>CCA355555005TBL1XR1,TBL1XR1-AS1c.1096T>G (p.Ser366Ala)
c.835T>G (p.Ser279Ala)
n.281T>G
c.695T>G
c.1126T>G (p.Ser376Ala)
c.1135T>G (p.Ser379Ala)
n.341-238A>C
3g.177038124A>GCA355555006TBL1XR1,TBL1XR1-AS1c.1096T>C (p.Ser366Pro)
c.835T>C (p.Ser279Pro)
n.281T>C
c.695T>C
c.1126T>C (p.Ser376Pro)
c.1135T>C (p.Ser379Pro)
n.341-238A>G
 COSMIC
3g.177038124A>TCA355555008TBL1XR1,TBL1XR1-AS1c.1096T>A (p.Ser366Thr)
c.835T>A (p.Ser279Thr)
n.281T>A
c.695T>A
c.1126T>A (p.Ser376Thr)
c.1135T>A (p.Ser379Thr)
n.341-238A>T
3g.177038125G>ACA436985647TBL1XR1,TBL1XR1-AS1c.1095C>T (p.Ala365=)
c.834C>T (p.Ala278=)
n.280C>T
c.694C>T
c.1125C>T (p.Ala375=)
c.1134C>T (p.Ala378=)
n.341-237G>A
3g.177038125G>CCA436985649TBL1XR1,TBL1XR1-AS1c.1095C>G (p.Ala365=)
c.834C>G (p.Ala278=)
n.280C>G
c.694C>G
c.1125C>G (p.Ala375=)
c.1134C>G (p.Ala378=)
n.341-237G>C
 ClinVar dbSNP
3g.177038125G>TCA436985650TBL1XR1,TBL1XR1-AS1c.1095C>A (p.Ala365=)
c.834C>A (p.Ala278=)
n.280C>A
c.694C>A
c.1125C>A (p.Ala375=)
c.1134C>A (p.Ala378=)
n.341-237G>T
3g.177038126G>ACA355555012TBL1XR1,TBL1XR1-AS1c.1094C>T (p.Ala365Val)
c.833C>T (p.Ala278Val)
n.279C>T
c.693C>T
c.1124C>T (p.Ala375Val)
c.1133C>T (p.Ala378Val)
n.341-236G>A
3g.177038126G>CCA355555009TBL1XR1,TBL1XR1-AS1c.1094C>G (p.Ala365Gly)
c.833C>G (p.Ala278Gly)
n.279C>G
c.693C>G
c.1124C>G (p.Ala375Gly)
c.1133C>G (p.Ala378Gly)
n.341-236G>C
3g.177038126G>TCA355555011TBL1XR1,TBL1XR1-AS1c.1094C>A (p.Ala365Asp)
c.833C>A (p.Ala278Asp)
n.279C>A
c.693C>A
c.1124C>A (p.Ala375Asp)
c.1133C>A (p.Ala378Asp)
n.341-236G>T
3g.177038127C>ACA355555014TBL1XR1,TBL1XR1-AS1c.1093G>T (p.Ala365Ser)
c.832G>T (p.Ala278Ser)
n.278G>T
c.692G>T
c.1123G>T (p.Ala375Ser)
c.1132G>T (p.Ala378Ser)
n.341-235C>A
 dbSNP
3g.177038127C=CA1422663057TBL1XR1,TBL1XR1-AS1c.1093G= (p.Ala365=)
c.832G= (p.Ala278=)
n.278G=
c.692G=
c.1123G= (p.Ala375=)
c.1132G= (p.Ala378=)
n.341-235C=
3g.177038127C>GCA355555015TBL1XR1,TBL1XR1-AS1c.1093G>C (p.Ala365Pro)
c.832G>C (p.Ala278Pro)
n.278G>C
c.692G>C
c.1123G>C (p.Ala375Pro)
c.1132G>C (p.Ala378Pro)
n.341-235C>G
3g.177038127C>TCA355555016TBL1XR1,TBL1XR1-AS1c.1093G>A (p.Ala365Thr)
c.832G>A (p.Ala278Thr)
n.278G>A
c.692G>A
c.1123G>A (p.Ala375Thr)
c.1132G>A (p.Ala378Thr)
n.341-235C>T
3g.177038127_177038128insACA645526863TBL1XR1,TBL1XR1-AS1c.1092_1093insT (p.Ala365CysfsTer5)
c.831_832insT (p.Ala278CysfsTer5)
n.277_278insT
c.691_692insT
c.1122_1123insT (p.Ala375CysfsTer5)
c.1131_1132insT (p.Ala378CysfsTer5)
n.341-235_341-234insA
 COSMIC
3g.177038128C>ACA355555018TBL1XR1,TBL1XR1-AS1c.1092G>T (p.Leu364Phe)
c.831G>T (p.Leu277Phe)
n.277G>T
c.691G>T
c.1122G>T (p.Leu374Phe)
c.1131G>T (p.Leu377Phe)
n.341-234C>A
3g.177038128C>GCA355555020TBL1XR1,TBL1XR1-AS1c.1092G>C (p.Leu364Phe)
c.831G>C (p.Leu277Phe)
n.277G>C
c.691G>C
c.1122G>C (p.Leu374Phe)
c.1131G>C (p.Leu377Phe)
n.341-234C>G
3g.177038128C>TCA436985652TBL1XR1,TBL1XR1-AS1c.1092G>A (p.Leu364=)
c.831G>A (p.Leu277=)
n.277G>A
c.691G>A
c.1122G>A (p.Leu374=)
c.1131G>A (p.Leu377=)
n.341-234C>T
3g.177038129A>CCA355555022TBL1XR1,TBL1XR1-AS1c.1091T>G (p.Leu364Trp)
c.830T>G (p.Leu277Trp)
n.276T>G
c.690T>G
c.1121T>G (p.Leu374Trp)
c.1130T>G (p.Leu377Trp)
n.341-233A>C
3g.177038129A>GCA355555024TBL1XR1,TBL1XR1-AS1c.1091T>C (p.Leu364Ser)
c.830T>C (p.Leu277Ser)
n.276T>C
c.690T>C
c.1121T>C (p.Leu374Ser)
c.1130T>C (p.Leu377Ser)
n.341-233A>G
3g.177038129A>TCA355555023TBL1XR1,TBL1XR1-AS1c.1091T>A (p.Leu364Ter)
c.830T>A (p.Leu277Ter)
n.276T>A
c.690T>A
c.1121T>A (p.Leu374Ter)
c.1130T>A (p.Leu377Ter)
n.341-233A>T
3g.177038130A>CCA355555025TBL1XR1,TBL1XR1-AS1c.1090T>G (p.Leu364Val)
c.829T>G (p.Leu277Val)
n.275T>G
c.689T>G
c.1120T>G (p.Leu374Val)
c.1129T>G (p.Leu377Val)
n.341-232A>C
 gnomAD v4
3g.177038130A>GCA436985654TBL1XR1,TBL1XR1-AS1c.1090T>C (p.Leu364=)
c.829T>C (p.Leu277=)
n.275T>C
c.689T>C
c.1120T>C (p.Leu374=)
c.1129T>C (p.Leu377=)
n.341-232A>G
 ClinVar dbSNP gnomAD v4
3g.177038130A>TCA355555027TBL1XR1,TBL1XR1-AS1c.1090T>A (p.Leu364Met)
c.829T>A (p.Leu277Met)
n.275T>A
c.689T>A
c.1120T>A (p.Leu374Met)
c.1129T>A (p.Leu377Met)
n.341-232A>T
3g.177038131G>ACA436985655TBL1XR1,TBL1XR1-AS1c.1089C>T (p.Leu363=)
c.828C>T (p.Leu276=)
n.274C>T
c.688C>T
c.1119C>T (p.Leu373=)
c.1128C>T (p.Leu376=)
n.341-231G>A
3g.177038131G>CCA2709839TBL1XR1,TBL1XR1-AS1c.1089C>G (p.Leu363=)
c.828C>G (p.Leu276=)
n.274C>G
c.688C>G
c.1119C>G (p.Leu373=)
c.1128C>G (p.Leu376=)
n.341-231G>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
3g.177038131G=CA1422663058TBL1XR1,TBL1XR1-AS1c.1089C= (p.Leu363=)
c.828C= (p.Leu276=)
n.274C=
c.688C=
c.1119C= (p.Leu373=)
c.1128C= (p.Leu376=)
n.341-231G=
3g.177038131G>TCA436985656TBL1XR1,TBL1XR1-AS1c.1089C>A (p.Leu363=)
c.828C>A (p.Leu276=)
n.274C>A
c.688C>A
c.1119C>A (p.Leu373=)
c.1128C>A (p.Leu376=)
n.341-231G>T
3g.177038132A>CCA355555029TBL1XR1,TBL1XR1-AS1c.1088T>G (p.Leu363Arg)
c.827T>G (p.Leu276Arg)
n.273T>G
c.687T>G
c.1118T>G (p.Leu373Arg)
c.1127T>G (p.Leu376Arg)
n.341-230A>C
3g.177038132A>GCA355555030TBL1XR1,TBL1XR1-AS1c.1088T>C (p.Leu363Pro)
c.827T>C (p.Leu276Pro)
n.273T>C
c.687T>C
c.1118T>C (p.Leu373Pro)
c.1127T>C (p.Leu376Pro)
n.341-230A>G
3g.177038132A>TCA355555031TBL1XR1,TBL1XR1-AS1c.1088T>A (p.Leu363His)
c.827T>A (p.Leu276His)
n.273T>A
c.687T>A
c.1118T>A (p.Leu373His)
c.1127T>A (p.Leu376His)
n.341-230A>T
3g.177038133G>ACA355555032TBL1XR1,TBL1XR1-AS1c.1087C>T (p.Leu363Phe)
c.826C>T (p.Leu276Phe)
n.272C>T
c.686C>T
c.1117C>T (p.Leu373Phe)
c.1126C>T (p.Leu376Phe)
n.341-229G>A
 gnomAD v4
3g.177038133G>CCA355555034TBL1XR1,TBL1XR1-AS1c.1087C>G (p.Leu363Val)
c.826C>G (p.Leu276Val)
n.272C>G
c.686C>G
c.1117C>G (p.Leu373Val)
c.1126C>G (p.Leu376Val)
n.341-229G>C
 COSMIC
3g.177038133G>TCA355555035TBL1XR1,TBL1XR1-AS1c.1087C>A (p.Leu363Ile)
c.826C>A (p.Leu276Ile)
n.272C>A
c.686C>A
c.1117C>A (p.Leu373Ile)
c.1126C>A (p.Leu376Ile)
n.341-229G>T
 gnomAD v4
3g.177038134A>CCA355555037TBL1XR1,TBL1XR1-AS1c.1086T>G (p.Asn362Lys)
c.825T>G (p.Asn275Lys)
n.271T>G
c.685T>G
c.1116T>G (p.Asn372Lys)
c.1125T>G (p.Asn375Lys)
n.341-228A>C
3g.177038134A>GCA436985658TBL1XR1,TBL1XR1-AS1c.1086T>C (p.Asn362=)
c.825T>C (p.Asn275=)
n.271T>C
c.685T>C
c.1116T>C (p.Asn372=)
c.1125T>C (p.Asn375=)
n.341-228A>G
3g.177038134A>TCA355555038TBL1XR1,TBL1XR1-AS1c.1086T>A (p.Asn362Lys)
c.825T>A (p.Asn275Lys)
n.271T>A
c.685T>A
c.1116T>A (p.Asn372Lys)
c.1125T>A (p.Asn375Lys)
n.341-228A>T
3g.177038135T>ACA355555042TBL1XR1,TBL1XR1-AS1c.1085A>T (p.Asn362Ile)
c.824A>T (p.Asn275Ile)
n.270A>T
c.684A>T
c.1115A>T (p.Asn372Ile)
c.1124A>T (p.Asn375Ile)
n.341-227T>A
3g.177038135T>CCA355555040TBL1XR1,TBL1XR1-AS1c.1085A>G (p.Asn362Ser)
c.824A>G (p.Asn275Ser)
n.270A>G
c.684A>G
c.1115A>G (p.Asn372Ser)
c.1124A>G (p.Asn375Ser)
n.341-227T>C
 ClinVar dbSNP gnomAD v4
3g.177038135T>GCA2709840TBL1XR1,TBL1XR1-AS1c.1085A>C (p.Asn362Thr)
c.824A>C (p.Asn275Thr)
n.270A>C
c.684A>C
c.1115A>C (p.Asn372Thr)
c.1124A>C (p.Asn375Thr)
n.341-227T>G
 dbSNP ExAC gnomAD v3 gnomAD v4
3g.177038135T=CA1422663059TBL1XR1,TBL1XR1-AS1c.1085A= (p.Asn362=)
c.824A= (p.Asn275=)
n.270A=
c.684A=
c.1115A= (p.Asn372=)
c.1124A= (p.Asn375=)
n.341-227T=
3g.177038136T>ACA355555043TBL1XR1,TBL1XR1-AS1c.1084A>T (p.Asn362Tyr)
c.823A>T (p.Asn275Tyr)
n.269A>T
c.683A>T
c.1114A>T (p.Asn372Tyr)
c.1123A>T (p.Asn375Tyr)
n.341-226T>A
3g.177038136T>CCA355555045TBL1XR1,TBL1XR1-AS1c.1084A>G (p.Asn362Asp)
c.823A>G (p.Asn275Asp)
n.269A>G
c.683A>G
c.1114A>G (p.Asn372Asp)
c.1123A>G (p.Asn375Asp)
n.341-226T>C
3g.177038136T>GCA355555046TBL1XR1,TBL1XR1-AS1c.1084A>C (p.Asn362His)
c.823A>C (p.Asn275His)
n.269A>C
c.683A>C
c.1114A>C (p.Asn372His)
c.1123A>C (p.Asn375His)
n.341-226T>G
3g.177038137G>ACA89087852TBL1XR1,TBL1XR1-AS1c.1083C>T (p.Gly361=)
c.822C>T (p.Gly274=)
n.268C>T
c.682C>T
c.1113C>T (p.Gly371=)
c.1122C>T (p.Gly374=)
n.341-225G>A
 dbSNP
3g.177038137G>CCA436985662TBL1XR1,TBL1XR1-AS1c.1083C>G (p.Gly361=)
c.822C>G (p.Gly274=)
n.268C>G
c.682C>G
c.1113C>G (p.Gly371=)
c.1122C>G (p.Gly374=)
n.341-225G>C
3g.177038137G=CA1422663060TBL1XR1,TBL1XR1-AS1c.1083C= (p.Gly361=)
c.822C= (p.Gly274=)
n.268C=
c.682C=
c.1113C= (p.Gly371=)
c.1122C= (p.Gly374=)
n.341-225G=
3g.177038137G>TCA436985663TBL1XR1,TBL1XR1-AS1c.1083C>A (p.Gly361=)
c.822C>A (p.Gly274=)
n.268C>A
c.682C>A
c.1113C>A (p.Gly371=)
c.1122C>A (p.Gly374=)
n.341-225G>T
3g.177038138C>ACA355555047TBL1XR1,TBL1XR1-AS1c.1082G>T (p.Gly361Val)
c.821G>T (p.Gly274Val)
n.267G>T
c.681G>T
c.1112G>T (p.Gly371Val)
c.1121G>T (p.Gly374Val)
n.341-224C>A
3g.177038138C>GCA355555048TBL1XR1,TBL1XR1-AS1c.1082G>C (p.Gly361Ala)
c.821G>C (p.Gly274Ala)
n.267G>C
c.681G>C
c.1112G>C (p.Gly371Ala)
c.1121G>C (p.Gly374Ala)
n.341-224C>G
3g.177038138C>TCA355555050TBL1XR1,TBL1XR1-AS1c.1082G>A (p.Gly361Asp)
c.821G>A (p.Gly274Asp)
n.267G>A
c.681G>A
c.1112G>A (p.Gly371Asp)
c.1121G>A (p.Gly374Asp)
n.341-224C>T
3g.177038139C>ACA355555054TBL1XR1,TBL1XR1-AS1c.1081G>T (p.Gly361Cys)
c.820G>T (p.Gly274Cys)
n.266G>T
c.680G>T
c.1111G>T (p.Gly371Cys)
c.1120G>T (p.Gly374Cys)
n.341-223C>A
3g.177038139C>GCA355555053TBL1XR1,TBL1XR1-AS1c.1081G>C (p.Gly361Arg)
c.820G>C (p.Gly274Arg)
n.266G>C
c.680G>C
c.1111G>C (p.Gly371Arg)
c.1120G>C (p.Gly374Arg)
n.341-223C>G
3g.177038139C>TCA355555052TBL1XR1,TBL1XR1-AS1c.1081G>A (p.Gly361Ser)
c.820G>A (p.Gly274Ser)
n.266G>A
c.680G>A
c.1111G>A (p.Gly371Ser)
c.1120G>A (p.Gly374Ser)
n.341-223C>T
3g.177038140A=CA1422663061TBL1XR1,TBL1XR1-AS1c.1080T= (p.Thr360=)
c.819T= (p.Thr273=)
n.265T=
c.679T=
c.1110T= (p.Thr370=)
c.1119T= (p.Thr373=)
n.341-222A=
3g.177038140A>CCA436985665TBL1XR1,TBL1XR1-AS1c.1080T>G (p.Thr360=)
c.819T>G (p.Thr273=)
n.265T>G
c.679T>G
c.1110T>G (p.Thr370=)
c.1119T>G (p.Thr373=)
n.341-222A>C
3g.177038140A>GCA436985667TBL1XR1,TBL1XR1-AS1c.1080T>C (p.Thr360=)
c.819T>C (p.Thr273=)
n.265T>C
c.679T>C
c.1110T>C (p.Thr370=)
c.1119T>C (p.Thr373=)
n.341-222A>G
 dbSNP gnomAD v3 gnomAD v4
3g.177038140A>TCA436985666TBL1XR1,TBL1XR1-AS1c.1080T>A (p.Thr360=)
c.819T>A (p.Thr273=)
n.265T>A
c.679T>A
c.1110T>A (p.Thr370=)
c.1119T>A (p.Thr373=)
n.341-222A>T
 dbSNP gnomAD v2 gnomAD v4
3g.177038141G>ACA355555055TBL1XR1,TBL1XR1-AS1c.1079C>T (p.Thr360Ile)
c.818C>T (p.Thr273Ile)
n.264C>T
c.678C>T
c.1109C>T (p.Thr370Ile)
c.1118C>T (p.Thr373Ile)
n.341-221G>A
3g.177038141G>CCA355555056TBL1XR1,TBL1XR1-AS1c.1079C>G (p.Thr360Ser)
c.818C>G (p.Thr273Ser)
n.264C>G
c.678C>G
c.1109C>G (p.Thr370Ser)
c.1118C>G (p.Thr373Ser)
n.341-221G>C
3g.177038141G>TCA355555058TBL1XR1,TBL1XR1-AS1c.1079C>A (p.Thr360Asn)
c.818C>A (p.Thr273Asn)
n.264C>A
c.678C>A
c.1109C>A (p.Thr370Asn)
c.1118C>A (p.Thr373Asn)
n.341-221G>T
3g.177038142T>ACA2709841TBL1XR1,TBL1XR1-AS1c.1078A>T (p.Thr360Ser)
c.817A>T (p.Thr273Ser)
n.263A>T
c.677A>T
c.1108A>T (p.Thr370Ser)
c.1117A>T (p.Thr373Ser)
n.341-220T>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.177038142T>CCA2709842TBL1XR1,TBL1XR1-AS1c.1078A>G (p.Thr360Ala)
c.817A>G (p.Thr273Ala)
n.263A>G
c.677A>G
c.1108A>G (p.Thr370Ala)
c.1117A>G (p.Thr373Ala)
n.341-220T>C
 dbSNP ExAC gnomAD v2
3g.177038142T>GCA355555060TBL1XR1,TBL1XR1-AS1c.1078A>C (p.Thr360Pro)
c.817A>C (p.Thr273Pro)
n.263A>C
c.677A>C
c.1108A>C (p.Thr370Pro)
c.1117A>C (p.Thr373Pro)
n.341-220T>G
3g.177038142T=CA1422663062TBL1XR1,TBL1XR1-AS1c.1078A= (p.Thr360=)
c.817A= (p.Thr273=)
n.263A=
c.677A=
c.1108A= (p.Thr370=)
c.1117A= (p.Thr373=)
n.341-220T=
3g.177038143T>ACA436985668TBL1XR1,TBL1XR1-AS1c.1077A>T (p.Pro359=)
c.816A>T (p.Pro272=)
n.262A>T
c.676A>T
c.1107A>T (p.Pro369=)
c.1116A>T (p.Pro372=)
n.341-219T>A
 gnomAD v4
3g.177038143T>CCA436985669TBL1XR1,TBL1XR1-AS1c.1077A>G (p.Pro359=)
c.816A>G (p.Pro272=)
n.262A>G
c.676A>G
c.1107A>G (p.Pro369=)
c.1116A>G (p.Pro372=)
n.341-219T>C
3g.177038143T>GCA436985670TBL1XR1,TBL1XR1-AS1c.1077A>C (p.Pro359=)
c.816A>C (p.Pro272=)
n.262A>C
c.676A>C
c.1107A>C (p.Pro369=)
c.1116A>C (p.Pro372=)
n.341-219T>G
3g.177038144G>ACA355555062TBL1XR1,TBL1XR1-AS1c.1076C>T (p.Pro359Leu)
c.815C>T (p.Pro272Leu)
n.261C>T
c.675C>T
c.1106C>T (p.Pro369Leu)
c.1115C>T (p.Pro372Leu)
n.341-218G>A
3g.177038144G>CCA355555064TBL1XR1,TBL1XR1-AS1c.1076C>G (p.Pro359Arg)
c.815C>G (p.Pro272Arg)
n.261C>G
c.675C>G
c.1106C>G (p.Pro369Arg)
c.1115C>G (p.Pro372Arg)
n.341-218G>C
3g.177038144G>TCA355555063TBL1XR1,TBL1XR1-AS1c.1076C>A (p.Pro359Gln)
c.815C>A (p.Pro272Gln)
n.261C>A
c.675C>A
c.1106C>A (p.Pro369Gln)
c.1115C>A (p.Pro372Gln)
n.341-218G>T
3g.177038145G>ACA355555066TBL1XR1,TBL1XR1-AS1c.1075C>T (p.Pro359Ser)
c.814C>T (p.Pro272Ser)
n.260C>T
c.674C>T
c.1105C>T (p.Pro369Ser)
c.1114C>T (p.Pro372Ser)
n.341-217G>A
3g.177038145G>CCA355555068TBL1XR1,TBL1XR1-AS1c.1075C>G (p.Pro359Ala)
c.814C>G (p.Pro272Ala)
n.260C>G
c.674C>G
c.1105C>G (p.Pro369Ala)
c.1114C>G (p.Pro372Ala)
n.341-217G>C
3g.177038145G>TCA355555069TBL1XR1,TBL1XR1-AS1c.1075C>A (p.Pro359Thr)
c.814C>A (p.Pro272Thr)
n.260C>A
c.674C>A
c.1105C>A (p.Pro369Thr)
c.1114C>A (p.Pro372Thr)
n.341-217G>T
3g.177038146G>ACA436985672TBL1XR1,TBL1XR1-AS1c.1074C>T (p.Asp358=)
c.813C>T (p.Asp271=)
n.259C>T
c.673C>T
c.1104C>T (p.Asp368=)
c.1113C>T (p.Asp371=)
n.341-216G>A
 dbSNP gnomAD v3 gnomAD v4
3g.177038146G>CCA355555070TBL1XR1,TBL1XR1-AS1c.1074C>G (p.Asp358Glu)
c.813C>G (p.Asp271Glu)
n.259C>G
c.673C>G
c.1104C>G (p.Asp368Glu)
c.1113C>G (p.Asp371Glu)
n.341-216G>C
3g.177038146G=CA1422663063TBL1XR1,TBL1XR1-AS1c.1074C= (p.Asp358=)
c.813C= (p.Asp271=)
n.259C=
c.673C=
c.1104C= (p.Asp368=)
c.1113C= (p.Asp371=)
n.341-216G=
3g.177038146G>TCA355555072TBL1XR1,TBL1XR1-AS1c.1074C>A (p.Asp358Glu)
c.813C>A (p.Asp271Glu)
n.259C>A
c.673C>A
c.1104C>A (p.Asp368Glu)
c.1113C>A (p.Asp371Glu)
n.341-216G>T
3g.177038147T>ACA355555073TBL1XR1,TBL1XR1-AS1c.1073A>T (p.Asp358Val)
c.812A>T (p.Asp271Val)
n.258A>T
c.672A>T
c.1103A>T (p.Asp368Val)
c.1112A>T (p.Asp371Val)
n.341-215T>A
3g.177038147T>CCA355555075TBL1XR1,TBL1XR1-AS1c.1073A>G (p.Asp358Gly)
c.812A>G (p.Asp271Gly)
n.258A>G
c.672A>G
c.1103A>G (p.Asp368Gly)
c.1112A>G (p.Asp371Gly)
n.341-215T>C
3g.177038147T>GCA355555076TBL1XR1,TBL1XR1-AS1c.1073A>C (p.Asp358Ala)
c.812A>C (p.Asp271Ala)
n.258A>C
c.672A>C
c.1103A>C (p.Asp368Ala)
c.1112A>C (p.Asp371Ala)
n.341-215T>G
3g.177038148C>ACA355555078TBL1XR1,TBL1XR1-AS1c.1072G>T (p.Asp358Tyr)
c.811G>T (p.Asp271Tyr)
n.257G>T
c.671G>T
c.1102G>T (p.Asp368Tyr)
c.1111G>T (p.Asp371Tyr)
n.341-214C>A
 COSMIC
3g.177038148C>GCA355555079TBL1XR1,TBL1XR1-AS1c.1072G>C (p.Asp358His)
c.811G>C (p.Asp271His)
n.257G>C
c.671G>C
c.1102G>C (p.Asp368His)
c.1111G>C (p.Asp371His)
n.341-214C>G
3g.177038148C>TCA355555080TBL1XR1,TBL1XR1-AS1c.1072G>A (p.Asp358Asn)
c.811G>A (p.Asp271Asn)
n.257G>A
c.671G>A
c.1102G>A (p.Asp368Asn)
c.1111G>A (p.Asp371Asn)
n.341-214C>T
3g.177038149C>ACA355555082TBL1XR1,TBL1XR1-AS1c.1071G>T (p.Trp357Cys)
c.810G>T (p.Trp270Cys)
n.256G>T
c.670G>T
c.1101G>T (p.Trp367Cys)
c.1110G>T (p.Trp370Cys)
n.341-213C>A
 COSMIC
3g.177038149C>GCA355555084TBL1XR1,TBL1XR1-AS1c.1071G>C (p.Trp357Cys)
c.810G>C (p.Trp270Cys)
n.256G>C
c.670G>C
c.1101G>C (p.Trp367Cys)
c.1110G>C (p.Trp370Cys)
n.341-213C>G
3g.177038149C>TCA355555083TBL1XR1,TBL1XR1-AS1c.1071G>A (p.Trp357Ter)
c.810G>A (p.Trp270Ter)
n.256G>A
c.670G>A
c.1101G>A (p.Trp367Ter)
c.1110G>A (p.Trp370Ter)
n.341-213C>T
 ClinVar dbSNP
3g.177038150C>ACA355555086TBL1XR1,TBL1XR1-AS1c.1070G>T (p.Trp357Leu)
c.809G>T (p.Trp270Leu)
n.255G>T
c.669G>T
c.1100G>T (p.Trp367Leu)
c.1109G>T (p.Trp370Leu)
n.341-212C>A
3g.177038150C>GCA355555087TBL1XR1,TBL1XR1-AS1c.1070G>C (p.Trp357Ser)
c.809G>C (p.Trp270Ser)
n.255G>C
c.669G>C
c.1100G>C (p.Trp367Ser)
c.1109G>C (p.Trp370Ser)
n.341-212C>G
3g.177038150C>TCA355555089TBL1XR1,TBL1XR1-AS1c.1070G>A (p.Trp357Ter)
c.809G>A (p.Trp270Ter)
n.255G>A
c.669G>A
c.1100G>A (p.Trp367Ter)
c.1109G>A (p.Trp370Ter)
n.341-212C>T
3g.177038151A>CCA355555090TBL1XR1,TBL1XR1-AS1c.1069T>G (p.Trp357Gly)
c.808T>G (p.Trp270Gly)
n.254T>G
c.668T>G
c.1099T>G (p.Trp367Gly)
c.1108T>G (p.Trp370Gly)
n.341-211A>C
3g.177038151A>GCA355555091TBL1XR1,TBL1XR1-AS1c.1069T>C (p.Trp357Arg)
c.808T>C (p.Trp270Arg)
n.254T>C
c.668T>C
c.1099T>C (p.Trp367Arg)
c.1108T>C (p.Trp370Arg)
n.341-211A>G
3g.177038151A>TCA355555092TBL1XR1,TBL1XR1-AS1c.1069T>A (p.Trp357Arg)
c.808T>A (p.Trp270Arg)
n.254T>A
c.668T>A
c.1099T>A (p.Trp367Arg)
c.1108T>A (p.Trp370Arg)
n.341-211A>T
3g.177038152T>ACA355555094TBL1XR1,TBL1XR1-AS1c.1068A>T (p.Lys356Asn)
c.807A>T (p.Lys269Asn)
n.253A>T
c.667A>T
c.1098A>T (p.Lys366Asn)
c.1107A>T (p.Lys369Asn)
n.341-210T>A
3g.177038152T>CCA436985674TBL1XR1,TBL1XR1-AS1c.1068A>G (p.Lys356=)
c.807A>G (p.Lys269=)
n.253A>G
c.667A>G
c.1098A>G (p.Lys366=)
c.1107A>G (p.Lys369=)
n.341-210T>C
3g.177038152T>GCA355555096TBL1XR1,TBL1XR1-AS1c.1068A>C (p.Lys356Asn)
c.807A>C (p.Lys269Asn)
n.253A>C
c.667A>C
c.1098A>C (p.Lys366Asn)
c.1107A>C (p.Lys369Asn)
n.341-210T>G
3g.177038153T>ACA355555097TBL1XR1,TBL1XR1-AS1c.1067A>T (p.Lys356Ile)
c.806A>T (p.Lys269Ile)
n.252A>T
c.666A>T
c.1097A>T (p.Lys366Ile)
c.1106A>T (p.Lys369Ile)
n.341-209T>A
3g.177038153T>CCA355555099TBL1XR1,TBL1XR1-AS1c.1067A>G (p.Lys356Arg)
c.806A>G (p.Lys269Arg)
n.252A>G
c.666A>G
c.1097A>G (p.Lys366Arg)
c.1106A>G (p.Lys369Arg)
n.341-209T>C
 gnomAD v4
3g.177038153T>GCA355555100TBL1XR1,TBL1XR1-AS1c.1067A>C (p.Lys356Thr)
c.806A>C (p.Lys269Thr)
n.252A>C
c.666A>C
c.1097A>C (p.Lys366Thr)
c.1106A>C (p.Lys369Thr)
n.341-209T>G
3g.177038154T>ACA355555104TBL1XR1,TBL1XR1-AS1c.1066A>T (p.Lys356Ter)
c.805A>T (p.Lys269Ter)
n.251A>T
c.665A>T
c.1096A>T (p.Lys366Ter)
c.1105A>T (p.Lys369Ter)
n.341-208T>A
3g.177038154T>CCA355555102TBL1XR1,TBL1XR1-AS1c.1066A>G (p.Lys356Glu)
c.805A>G (p.Lys269Glu)
n.251A>G
c.665A>G
c.1096A>G (p.Lys366Glu)
c.1105A>G (p.Lys369Glu)
n.341-208T>C
3g.177038154T>GCA355555101TBL1XR1,TBL1XR1-AS1c.1066A>C (p.Lys356Gln)
c.805A>C (p.Lys269Gln)
n.251A>C
c.665A>C
c.1096A>C (p.Lys366Gln)
c.1105A>C (p.Lys369Gln)
n.341-208T>G
3g.177038155G>ACA436985675TBL1XR1,TBL1XR1-AS1c.1065C>T (p.Ile355=)
c.804C>T (p.Ile268=)
n.250C>T
c.664C>T
c.1095C>T (p.Ile365=)
c.1104C>T (p.Ile368=)
n.341-207G>A
 dbSNP gnomAD v2 gnomAD v4
3g.177038155G>CCA355555105TBL1XR1,TBL1XR1-AS1c.1065C>G (p.Ile355Met)
c.804C>G (p.Ile268Met)
n.250C>G
c.664C>G
c.1095C>G (p.Ile365Met)
c.1104C>G (p.Ile368Met)
n.341-207G>C
3g.177038155G=CA1422663064TBL1XR1,TBL1XR1-AS1c.1065C= (p.Ile355=)
c.804C= (p.Ile268=)
n.250C=
c.664C=
c.1095C= (p.Ile365=)
c.1104C= (p.Ile368=)
n.341-207G=
3g.177038155G>TCA436985676TBL1XR1,TBL1XR1-AS1c.1065C>A (p.Ile355=)
c.804C>A (p.Ile268=)
n.250C>A
c.664C>A
c.1095C>A (p.Ile365=)
c.1104C>A (p.Ile368=)
n.341-207G>T
3g.177038156A>CCA355555107TBL1XR1,TBL1XR1-AS1c.1064T>G (p.Ile355Ser)
c.803T>G (p.Ile268Ser)
n.249T>G
c.663T>G
c.1094T>G (p.Ile365Ser)
c.1103T>G (p.Ile368Ser)
n.341-206A>C
3g.177038156A>GCA355555109TBL1XR1,TBL1XR1-AS1c.1064T>C (p.Ile355Thr)
c.803T>C (p.Ile268Thr)
n.249T>C
c.663T>C
c.1094T>C (p.Ile365Thr)
c.1103T>C (p.Ile368Thr)
n.341-206A>G
3g.177038156A>TCA355555110TBL1XR1,TBL1XR1-AS1c.1064T>A (p.Ile355Asn)
c.803T>A (p.Ile268Asn)
n.249T>A
c.663T>A
c.1094T>A (p.Ile365Asn)
c.1103T>A (p.Ile368Asn)
n.341-206A>T
3g.177038157T>ACA355555111TBL1XR1,TBL1XR1-AS1c.1063A>T (p.Ile355Phe)
c.802A>T (p.Ile268Phe)
n.248A>T
c.662A>T
c.1093A>T (p.Ile365Phe)
c.1102A>T (p.Ile368Phe)
n.341-205T>A
3g.177038157T>CCA355555113TBL1XR1,TBL1XR1-AS1c.1063A>G (p.Ile355Val)
c.802A>G (p.Ile268Val)
n.248A>G
c.662A>G
c.1093A>G (p.Ile365Val)
c.1102A>G (p.Ile368Val)
n.341-205T>C
3g.177038157T>GCA355555114TBL1XR1,TBL1XR1-AS1c.1063A>C (p.Ile355Leu)
c.802A>C (p.Ile268Leu)
n.248A>C
c.662A>C
c.1093A>C (p.Ile365Leu)
c.1102A>C (p.Ile368Leu)
n.341-205T>G
3g.177038158A>CCA436985677TBL1XR1,TBL1XR1-AS1c.1062T>G (p.Ala354=)
c.801T>G (p.Ala267=)
n.247T>G
c.661T>G
c.1092T>G (p.Ala364=)
c.1101T>G (p.Ala367=)
n.341-204A>C
3g.177038158A>GCA436985678TBL1XR1,TBL1XR1-AS1c.1062T>C (p.Ala354=)
c.801T>C (p.Ala267=)
n.247T>C
c.661T>C
c.1092T>C (p.Ala364=)
c.1101T>C (p.Ala367=)
n.341-204A>G
3g.177038158A>TCA436985680TBL1XR1,TBL1XR1-AS1c.1062T>A (p.Ala354=)
c.801T>A (p.Ala267=)
n.247T>A
c.661T>A
c.1092T>A (p.Ala364=)
c.1101T>A (p.Ala367=)
n.341-204A>T
3g.177038159G>ACA355555116TBL1XR1,TBL1XR1-AS1c.1061C>T (p.Ala354Val)
c.800C>T (p.Ala267Val)
n.246C>T
c.660C>T
c.1091C>T (p.Ala364Val)
c.1100C>T (p.Ala367Val)
n.341-203G>A
3g.177038159G>CCA355555118TBL1XR1,TBL1XR1-AS1c.1061C>G (p.Ala354Gly)
c.800C>G (p.Ala267Gly)
n.246C>G
c.660C>G
c.1091C>G (p.Ala364Gly)
c.1100C>G (p.Ala367Gly)
n.341-203G>C
3g.177038159G>TCA355555119TBL1XR1,TBL1XR1-AS1c.1061C>A (p.Ala354Asp)
c.800C>A (p.Ala267Asp)
n.246C>A
c.660C>A
c.1091C>A (p.Ala364Asp)
c.1100C>A (p.Ala367Asp)
n.341-203G>T
3g.177038160C>ACA355555120TBL1XR1,TBL1XR1-AS1c.1060G>T (p.Ala354Ser)
c.799G>T (p.Ala267Ser)
n.245G>T
c.659G>T
c.1090G>T (p.Ala364Ser)
c.1099G>T (p.Ala367Ser)
n.341-202C>A
 gnomAD v4
3g.177038160C>GCA355555122TBL1XR1,TBL1XR1-AS1c.1060G>C (p.Ala354Pro)
c.799G>C (p.Ala267Pro)
n.245G>C
c.659G>C
c.1090G>C (p.Ala364Pro)
c.1099G>C (p.Ala367Pro)
n.341-202C>G
3g.177038160C>TCA355555123TBL1XR1,TBL1XR1-AS1c.1060G>A (p.Ala354Thr)
c.799G>A (p.Ala267Thr)
n.245G>A
c.659G>A
c.1090G>A (p.Ala364Thr)
c.1099G>A (p.Ala367Thr)
n.341-202C>T
3g.177038161A=CA1422663065TBL1XR1,TBL1XR1-AS1c.1059T= (p.Asn353=)
c.798T= (p.Asn266=)
n.244T=
c.658T=
c.1089T= (p.Asn363=)
c.1098T= (p.Asn366=)
n.341-201A=
3g.177038161A>CCA355555125TBL1XR1,TBL1XR1-AS1c.1059T>G (p.Asn353Lys)
c.798T>G (p.Asn266Lys)
n.244T>G
c.658T>G
c.1089T>G (p.Asn363Lys)
c.1098T>G (p.Asn366Lys)
n.341-201A>C
3g.177038161A>GCA436985682TBL1XR1,TBL1XR1-AS1c.1059T>C (p.Asn353=)
c.798T>C (p.Asn266=)
n.244T>C
c.658T>C
c.1089T>C (p.Asn363=)
c.1098T>C (p.Asn366=)
n.341-201A>G
 dbSNP gnomAD v3 gnomAD v4
3g.177038161A>TCA355555126TBL1XR1,TBL1XR1-AS1c.1059T>A (p.Asn353Lys)
c.798T>A (p.Asn266Lys)
n.244T>A
c.658T>A
c.1089T>A (p.Asn363Lys)
c.1098T>A (p.Asn366Lys)
n.341-201A>T
 COSMIC
3g.177038162T>ACA355555127TBL1XR1,TBL1XR1-AS1c.1058A>T (p.Asn353Ile)
c.797A>T (p.Asn266Ile)
n.243A>T
c.657A>T
c.1088A>T (p.Asn363Ile)
c.1097A>T (p.Asn366Ile)
n.341-200T>A
3g.177038162T>CCA355555130TBL1XR1,TBL1XR1-AS1c.1058A>G (p.Asn353Ser)
c.797A>G (p.Asn266Ser)
n.243A>G
c.657A>G
c.1088A>G (p.Asn363Ser)
c.1097A>G (p.Asn366Ser)
n.341-200T>C
 COSMIC
3g.177038162T>GCA355555129TBL1XR1,TBL1XR1-AS1c.1058A>C (p.Asn353Thr)
c.797A>C (p.Asn266Thr)
n.243A>C
c.657A>C
c.1088A>C (p.Asn363Thr)
c.1097A>C (p.Asn366Thr)
n.341-200T>G
3g.177038163T>ACA355555132TBL1XR1,TBL1XR1-AS1c.1057A>T (p.Asn353Tyr)
c.796A>T (p.Asn266Tyr)
n.242A>T
c.656A>T
c.1087A>T (p.Asn363Tyr)
c.1096A>T (p.Asn366Tyr)
n.341-199T>A
3g.177038163T>CCA355555134TBL1XR1,TBL1XR1-AS1c.1057A>G (p.Asn353Asp)
c.796A>G (p.Asn266Asp)
n.242A>G
c.656A>G
c.1087A>G (p.Asn363Asp)
c.1096A>G (p.Asn366Asp)
n.341-199T>C
3g.177038163T>GCA355555135TBL1XR1,TBL1XR1-AS1c.1057A>C (p.Asn353His)
c.796A>C (p.Asn266His)
n.242A>C
c.656A>C
c.1087A>C (p.Asn363His)
c.1096A>C (p.Asn366His)
n.341-199T>G
3g.177038164T>ACA436985685TBL1XR1,TBL1XR1-AS1c.1056A>T (p.Val352=)
c.795A>T (p.Val265=)
n.241A>T
c.655A>T
c.1086A>T (p.Val362=)
c.1095A>T (p.Val365=)
n.341-198T>A
3g.177038164T>CCA436985686TBL1XR1,TBL1XR1-AS1c.1056A>G (p.Val352=)
c.795A>G (p.Val265=)
n.241A>G
c.655A>G
c.1086A>G (p.Val362=)
c.1095A>G (p.Val365=)
n.341-198T>C
3g.177038164T>GCA436985687TBL1XR1,TBL1XR1-AS1c.1056A>C (p.Val352=)
c.795A>C (p.Val265=)
n.241A>C
c.655A>C
c.1086A>C (p.Val362=)
c.1095A>C (p.Val365=)
n.341-198T>G
3g.177038165A>CCA355555136TBL1XR1,TBL1XR1-AS1c.1055T>G (p.Val352Gly)
c.794T>G (p.Val265Gly)
n.240T>G
c.654T>G
c.1085T>G (p.Val362Gly)
c.1094T>G (p.Val365Gly)
n.341-197A>C
3g.177038165A>GCA355555138TBL1XR1,TBL1XR1-AS1c.1055T>C (p.Val352Ala)
c.794T>C (p.Val265Ala)
n.240T>C
c.654T>C
c.1085T>C (p.Val362Ala)
c.1094T>C (p.Val365Ala)
n.341-197A>G
3g.177038165A>TCA355555139TBL1XR1,TBL1XR1-AS1c.1055T>A (p.Val352Glu)
c.794T>A (p.Val265Glu)
n.240T>A
c.654T>A
c.1085T>A (p.Val362Glu)
c.1094T>A (p.Val365Glu)
n.341-197A>T
3g.177038166C>ACA355555144TBL1XR1,TBL1XR1-AS1c.1054G>T (p.Val352Leu)
c.793G>T (p.Val265Leu)
n.239G>T
c.653G>T
c.1084G>T (p.Val362Leu)
c.1093G>T (p.Val365Leu)
n.341-196C>A
3g.177038166C>GCA355555141TBL1XR1,TBL1XR1-AS1c.1054G>C (p.Val352Leu)
c.793G>C (p.Val265Leu)
n.239G>C
c.653G>C
c.1084G>C (p.Val362Leu)
c.1093G>C (p.Val365Leu)
n.341-196C>G
3g.177038166C>TCA355555143TBL1XR1,TBL1XR1-AS1c.1054G>A (p.Val352Ile)
c.793G>A (p.Val265Ile)
n.239G>A
c.653G>A
c.1084G>A (p.Val362Ile)
c.1093G>A (p.Val365Ile)
n.341-196C>T
3g.177038167T>ACA355555145TBL1XR1,TBL1XR1-AS1c.1053A>T (p.Glu351Asp)
c.792A>T (p.Glu264Asp)
n.238A>T
c.652A>T
c.1083A>T (p.Glu361Asp)
c.1092A>T (p.Glu364Asp)
n.341-195T>A
3g.177038167T>CCA436985689TBL1XR1,TBL1XR1-AS1c.1053A>G (p.Glu351=)
c.792A>G (p.Glu264=)
n.238A>G
c.652A>G
c.1083A>G (p.Glu361=)
c.1092A>G (p.Glu364=)
n.341-195T>C
3g.177038167T>GCA355555147TBL1XR1,TBL1XR1-AS1c.1053A>C (p.Glu351Asp)
c.792A>C (p.Glu264Asp)
n.238A>C
c.652A>C
c.1083A>C (p.Glu361Asp)
c.1092A>C (p.Glu364Asp)
n.341-195T>G
3g.177038168T>ACA355555148TBL1XR1,TBL1XR1-AS1c.1052A>T (p.Glu351Val)
c.791A>T (p.Glu264Val)
n.237A>T
c.651A>T
c.1082A>T (p.Glu361Val)
c.1091A>T (p.Glu364Val)
n.341-194T>A
3g.177038168T>CCA355555150TBL1XR1,TBL1XR1-AS1c.1052A>G (p.Glu351Gly)
c.791A>G (p.Glu264Gly)
n.237A>G
c.651A>G
c.1082A>G (p.Glu361Gly)
c.1091A>G (p.Glu364Gly)
n.341-194T>C
3g.177038168T>GCA355555151TBL1XR1,TBL1XR1-AS1c.1052A>C (p.Glu351Ala)
c.791A>C (p.Glu264Ala)
n.237A>C
c.651A>C
c.1082A>C (p.Glu361Ala)
c.1091A>C (p.Glu364Ala)
n.341-194T>G
3g.177038169C>ACA355555152TBL1XR1,TBL1XR1-AS1c.1051G>T (p.Glu351Ter)
c.790G>T (p.Glu264Ter)
n.236G>T
c.650G>T
c.1081G>T (p.Glu361Ter)
c.1090G>T (p.Glu364Ter)
n.341-193C>A
 COSMIC
3g.177038169C>GCA355555154TBL1XR1,TBL1XR1-AS1c.1051G>C (p.Glu351Gln)
c.790G>C (p.Glu264Gln)
n.236G>C
c.650G>C
c.1081G>C (p.Glu361Gln)
c.1090G>C (p.Glu364Gln)
n.341-193C>G
3g.177038169C>TCA355555153TBL1XR1,TBL1XR1-AS1c.1051G>A (p.Glu351Lys)
c.790G>A (p.Glu264Lys)
n.236G>A
c.650G>A
c.1081G>A (p.Glu361Lys)
c.1090G>A (p.Glu364Lys)
n.341-193C>T
3g.177038170A>CCA355555156TBL1XR1,TBL1XR1-AS1c.1050T>G (p.Asn350Lys)
c.789T>G (p.Asn263Lys)
n.235T>G
c.649T>G
c.1080T>G (p.Asn360Lys)
c.1089T>G (p.Asn363Lys)
n.341-192A>C
3g.177038170A>GCA436985692TBL1XR1,TBL1XR1-AS1c.1050T>C (p.Asn350=)
c.789T>C (p.Asn263=)
n.235T>C
c.649T>C
c.1080T>C (p.Asn360=)
c.1089T>C (p.Asn363=)
n.341-192A>G
3g.177038170A>TCA355555157TBL1XR1,TBL1XR1-AS1c.1050T>A (p.Asn350Lys)
c.789T>A (p.Asn263Lys)
n.235T>A
c.649T>A
c.1080T>A (p.Asn360Lys)
c.1089T>A (p.Asn363Lys)
n.341-192A>T
3g.177038171T>ACA355555159TBL1XR1,TBL1XR1-AS1c.1049A>T (p.Asn350Ile)
c.788A>T (p.Asn263Ile)
n.234A>T
c.648A>T
c.1079A>T (p.Asn360Ile)
c.1088A>T (p.Asn363Ile)
n.341-191T>A
3g.177038171T>CCA355555160TBL1XR1,TBL1XR1-AS1c.1049A>G (p.Asn350Ser)
c.788A>G (p.Asn263Ser)
n.234A>G
c.648A>G
c.1079A>G (p.Asn360Ser)
c.1088A>G (p.Asn363Ser)
n.341-191T>C
3g.177038171T>GCA355555162TBL1XR1,TBL1XR1-AS1c.1049A>C (p.Asn350Thr)
c.788A>C (p.Asn263Thr)
n.234A>C
c.648A>C
c.1079A>C (p.Asn360Thr)
c.1088A>C (p.Asn363Thr)
n.341-191T>G
3g.177038172T>ACA355555163TBL1XR1,TBL1XR1-AS1c.1048A>T (p.Asn350Tyr)
c.787A>T (p.Asn263Tyr)
n.233A>T
c.647A>T
c.1078A>T (p.Asn360Tyr)
c.1087A>T (p.Asn363Tyr)
n.341-190T>A
3g.177038172T>CCA355555164TBL1XR1,TBL1XR1-AS1c.1048A>G (p.Asn350Asp)
c.787A>G (p.Asn263Asp)
n.233A>G
c.647A>G
c.1078A>G (p.Asn360Asp)
c.1087A>G (p.Asn363Asp)
n.341-190T>C
3g.177038172T>GCA355555166TBL1XR1,TBL1XR1-AS1c.1048A>C (p.Asn350His)
c.787A>C (p.Asn263His)
n.233A>C
c.647A>C
c.1078A>C (p.Asn360His)
c.1087A>C (p.Asn363His)
n.341-190T>G
3g.177038173C>ACA355555167TBL1XR1,TBL1XR1-AS1c.1048-1G>T (n.1048-1G>T)
c.787-1G>T (n.787-1G>T)
n.233-1G>T
c.647-1G>T
c.1078-1G>T (n.1078-1G>T)
c.1087-1G>T (n.1087-1G>T)
n.341-189C>A
3g.177038173C=CA1422663066TBL1XR1,TBL1XR1-AS1c.1048-1G= (n.1048-1G=)
c.787-1G= (n.787-1G=)
n.233-1G=
c.647-1G=
c.1078-1G= (n.1078-1G=)
c.1087-1G= (n.1087-1G=)
n.341-189C=
3g.177038173C>GCA355555169TBL1XR1,TBL1XR1-AS1c.1048-1G>C (n.1048-1G>C)
c.787-1G>C (n.787-1G>C)
n.233-1G>C
c.647-1G>C
c.1078-1G>C (n.1078-1G>C)
c.1087-1G>C (n.1087-1G>C)
n.341-189C>G
 COSMIC
3g.177038173C>TCA355555170TBL1XR1,TBL1XR1-AS1c.1048-1G>A (n.1048-1G>A)
c.787-1G>A (n.787-1G>A)
n.233-1G>A
c.647-1G>A
c.1078-1G>A (n.1078-1G>A)
c.1087-1G>A (n.1087-1G>A)
n.341-189C>T
 ClinVar dbSNP
3g.177038174_177038313delCA2668595496TBL1XR1,TBL1XR1-AS1c.1047+1_1048-1del
c.786+1_787-1del
n.232+1_233-1del
c.646+1_647-1del
c.1077+1_1078-1del
c.1086+1_1087-1del
n.341-188_341-49del
 gnomAD v4
3g.177038173_177038174insGTATGTCCTCA548260110TBL1XR1,TBL1XR1-AS1c.1048-2_1048-1insAGGACATAC (n.1048-2_1048-1insAGGACATAC)
c.787-2_787-1insAGGACATAC (n.787-2_787-1insAGGACATAC)
n.233-2_233-1insAGGACATAC
c.647-2_647-1insAGGACATAC
c.1078-2_1078-1insAGGACATAC (n.1078-2_1078-1insAGGACATAC)
c.1087-2_1087-1insAGGACATAC (n.1087-2_1087-1insAGGACATAC)
n.341-189_341-188insGTATGTCCT
 dbSNP gnomAD v2 gnomAD v4
3g.177038173_177038174insGTATGTCCTTGGAATGTTTCA2668595497TBL1XR1,TBL1XR1-AS1c.1048-2_1048-1insAAACATTCCAAGGACATAC (n.1048-2_1048-1insAAACATTCCAAGGACATAC)
c.787-2_787-1insAAACATTCCAAGGACATAC (n.787-2_787-1insAAACATTCCAAGGACATAC)
n.233-2_233-1insAAACATTCCAAGGACATAC
c.647-2_647-1insAAACATTCCAAGGACATAC
c.1078-2_1078-1insAAACATTCCAAGGACATAC (n.1078-2_1078-1insAAACATTCCAAGGACATAC)
c.1087-2_1087-1insAAACATTCCAAGGACATAC (n.1087-2_1087-1insAAACATTCCAAGGACATAC)
n.341-189_341-188insGTATGTCCTTGGAATGTTT
 gnomAD v4
3g.177038174T>ACA355555172TBL1XR1,TBL1XR1-AS1c.1048-2A>T (n.1048-2A>T)
c.787-2A>T (n.787-2A>T)
n.233-2A>T
c.647-2A>T
c.1078-2A>T (n.1078-2A>T)
c.1087-2A>T (n.1087-2A>T)
n.341-188T>A
3g.177038174T>CCA355555174TBL1XR1,TBL1XR1-AS1c.1048-2A>G (n.1048-2A>G)
c.787-2A>G (n.787-2A>G)
n.233-2A>G
c.647-2A>G
c.1078-2A>G (n.1078-2A>G)
c.1087-2A>G (n.1087-2A>G)
n.341-188T>C
 COSMIC
3g.177038174T>GCA355555173TBL1XR1,TBL1XR1-AS1c.1048-2A>C (n.1048-2A>C)
c.787-2A>C (n.787-2A>C)
n.233-2A>C
c.647-2A>C
c.1078-2A>C (n.1078-2A>C)
c.1087-2A>C (n.1087-2A>C)
n.341-188T>G
3g.177038178A>GCA2668595498TBL1XR1,TBL1XR1-AS1c.1048-6T>C (n.1048-6T>C)
c.787-6T>C (n.787-6T>C)
n.233-6T>C
c.647-6T>C
c.1078-6T>C (n.1078-6T>C)
c.1087-6T>C (n.1087-6T>C)
n.341-184A>G
 gnomAD v4
3g.177038179A>CCA2573052117TBL1XR1,TBL1XR1-AS1c.1048-7T>G (n.1048-7T>G)
c.787-7T>G (n.787-7T>G)
n.233-7T>G
c.647-7T>G
c.1078-7T>G (n.1078-7T>G)
c.1087-7T>G (n.1087-7T>G)
n.341-183A>C
 ClinVar dbSNP
3g.177038179A>GCA2739278881TBL1XR1,TBL1XR1-AS1c.1048-7T>C (n.1048-7T>C)
c.787-7T>C (n.787-7T>C)
n.233-7T>C
c.647-7T>C
c.1078-7T>C (n.1078-7T>C)
c.1087-7T>C (n.1087-7T>C)
n.341-183A>G
 ClinVar
3g.177038180T>GCA2704624070TBL1XR1,TBL1XR1-AS1c.1048-8A>C (n.1048-8A>C)
c.787-8A>C (n.787-8A>C)
n.233-8A>C
c.647-8A>C
c.1078-8A>C (n.1078-8A>C)
c.1087-8A>C (n.1087-8A>C)
n.341-182T>G
 dbSNP
3g.177038182A>GCA2668595500TBL1XR1,TBL1XR1-AS1c.1048-10T>C (n.1048-10T>C)
c.787-10T>C (n.787-10T>C)
n.233-10T>C
c.647-10T>C
c.1078-10T>C (n.1078-10T>C)
c.1087-10T>C (n.1087-10T>C)
n.341-180A>G
 gnomAD v4
3g.177038183T>CCA2709843TBL1XR1,TBL1XR1-AS1c.1048-11A>G (n.1048-11A>G)
c.787-11A>G (n.787-11A>G)
n.233-11A>G
c.647-11A>G
c.1078-11A>G (n.1078-11A>G)
c.1087-11A>G (n.1087-11A>G)
n.341-179T>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.177038183T>GCA2668595501TBL1XR1,TBL1XR1-AS1c.1048-11A>C (n.1048-11A>C)
c.787-11A>C (n.787-11A>C)
n.233-11A>C
c.647-11A>C
c.1078-11A>C (n.1078-11A>C)
c.1087-11A>C (n.1087-11A>C)
n.341-179T>G
 gnomAD v4
3g.177038183T=CA1422663067TBL1XR1,TBL1XR1-AS1c.1048-11A= (n.1048-11A=)
c.787-11A= (n.787-11A=)
n.233-11A=
c.647-11A=
c.1078-11A= (n.1078-11A=)
c.1087-11A= (n.1087-11A=)
n.341-179T=
3g.177038185_177038187delCA2577962533TBL1XR1,TBL1XR1-AS1c.1048-13_1048-11del (n.1048-13_1048-11del)
c.787-13_787-11del (n.787-13_787-11del)
n.233-13_233-11del
c.647-13_647-11del
c.1078-13_1078-11del (n.1078-13_1078-11del)
c.1087-13_1087-11del (n.1087-13_1087-11del)
n.341-177_341-175del
3g.177038185G>ACA548260111TBL1XR1,TBL1XR1-AS1c.1048-13C>T (n.1048-13C>T)
c.787-13C>T (n.787-13C>T)
n.233-13C>T
c.647-13C>T
c.1078-13C>T (n.1078-13C>T)
c.1087-13C>T (n.1087-13C>T)
n.341-177G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.177038185G=CA1422663068TBL1XR1,TBL1XR1-AS1c.1048-13C= (n.1048-13C=)
c.787-13C= (n.787-13C=)
n.233-13C=
c.647-13C=
c.1078-13C= (n.1078-13C=)
c.1087-13C= (n.1087-13C=)
n.341-177G=
3g.177038186T>CCA2759514902TBL1XR1,TBL1XR1-AS1c.1048-14A>G (n.1048-14A>G)
c.787-14A>G (n.787-14A>G)
n.233-14A>G
c.647-14A>G
c.1078-14A>G (n.1078-14A>G)
c.1087-14A>G (n.1087-14A>G)
n.341-176T>C
3g.177038187A=CA1422663069TBL1XR1,TBL1XR1-AS1c.1048-15T= (n.1048-15T=)
c.787-15T= (n.787-15T=)
n.233-15T=
c.647-15T=
c.1078-15T= (n.1078-15T=)
c.1087-15T= (n.1087-15T=)
n.341-175A=
3g.177038187A>CCA2668595502TBL1XR1,TBL1XR1-AS1c.1048-15T>G (n.1048-15T>G)
c.787-15T>G (n.787-15T>G)
n.233-15T>G
c.647-15T>G
c.1078-15T>G (n.1078-15T>G)
c.1087-15T>G (n.1087-15T>G)
n.341-175A>C
 gnomAD v4
3g.177038187A>GCA548260112TBL1XR1,TBL1XR1-AS1c.1048-15T>C (n.1048-15T>C)
c.787-15T>C (n.787-15T>C)
n.233-15T>C
c.647-15T>C
c.1078-15T>C (n.1078-15T>C)
c.1087-15T>C (n.1087-15T>C)
n.341-175A>G
 dbSNP gnomAD v2 gnomAD v4
3g.177038189A>GCA2668595504TBL1XR1,TBL1XR1-AS1c.1048-17T>C (n.1048-17T>C)
c.787-17T>C (n.787-17T>C)
n.233-17T>C
c.647-17T>C
c.1078-17T>C (n.1078-17T>C)
c.1087-17T>C (n.1087-17T>C)
n.341-173A>G
 gnomAD v4
3g.177038192T>ACA2668595506TBL1XR1,TBL1XR1-AS1c.1048-20A>T (n.1048-20A>T)
c.787-20A>T (n.787-20A>T)
n.233-20A>T
c.647-20A>T
c.1078-20A>T (n.1078-20A>T)
c.1087-20A>T (n.1087-20A>T)
n.341-170T>A
 gnomAD v4
3g.177038192T>CCA2709844TBL1XR1,TBL1XR1-AS1c.1048-20A>G (n.1048-20A>G)
c.787-20A>G (n.787-20A>G)
n.233-20A>G
c.647-20A>G
c.1078-20A>G (n.1078-20A>G)
c.1087-20A>G (n.1087-20A>G)
n.341-170T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.177038192T=CA1422663070TBL1XR1,TBL1XR1-AS1c.1048-20A= (n.1048-20A=)
c.787-20A= (n.787-20A=)
n.233-20A=
c.647-20A=
c.1078-20A= (n.1078-20A=)
c.1087-20A= (n.1087-20A=)
n.341-170T=
3g.177038194C>ACA1422663072TBL1XR1,TBL1XR1-AS1c.1048-22G>T (n.1048-22G>T)
c.787-22G>T (n.787-22G>T)
n.233-22G>T
c.647-22G>T
c.1078-22G>T (n.1078-22G>T)
c.1087-22G>T (n.1087-22G>T)
n.341-168C>A
 dbSNP
3g.177038194C=CA1422663071TBL1XR1,TBL1XR1-AS1c.1048-22G= (n.1048-22G=)
c.787-22G= (n.787-22G=)
n.233-22G=
c.647-22G=
c.1078-22G= (n.1078-22G=)
c.1087-22G= (n.1087-22G=)
n.341-168C=
3g.177038194C>TCA903107456TBL1XR1,TBL1XR1-AS1c.1048-22G>A (n.1048-22G>A)
c.787-22G>A (n.787-22G>A)
n.233-22G>A
c.647-22G>A
c.1078-22G>A (n.1078-22G>A)
c.1087-22G>A (n.1087-22G>A)
n.341-168C>T
 dbSNP gnomAD v3 gnomAD v4
3g.177038196C>ACA548260113TBL1XR1,TBL1XR1-AS1c.1048-24G>T (n.1048-24G>T)
c.787-24G>T (n.787-24G>T)
n.233-24G>T
c.647-24G>T
c.1078-24G>T (n.1078-24G>T)
c.1087-24G>T (n.1087-24G>T)
n.341-166C>A
 dbSNP gnomAD v2 gnomAD v4
3g.177038196C=CA1422663073TBL1XR1,TBL1XR1-AS1c.1048-24G= (n.1048-24G=)
c.787-24G= (n.787-24G=)
n.233-24G=
c.647-24G=
c.1078-24G= (n.1078-24G=)
c.1087-24G= (n.1087-24G=)
n.341-166C=
3g.177038196C>GCA903107461TBL1XR1,TBL1XR1-AS1c.1048-24G>C (n.1048-24G>C)
c.787-24G>C (n.787-24G>C)
n.233-24G>C
c.647-24G>C
c.1078-24G>C (n.1078-24G>C)
c.1087-24G>C (n.1087-24G>C)
n.341-166C>G
 dbSNP gnomAD v4
3g.177038201dupCA2668595507TBL1XR1,TBL1XR1-AS1c.1048-26dup (n.1048-26dup)
c.787-26dup (n.787-26dup)
n.233-26dup
c.647-26dup
c.1078-26dup (n.1078-26dup)
c.1087-26dup (n.1087-26dup)
n.341-161dup
 gnomAD v4
3g.177038200T>GCA2668595508TBL1XR1,TBL1XR1-AS1c.1048-28A>C (n.1048-28A>C)
c.787-28A>C (n.787-28A>C)
n.233-28A>C
c.647-28A>C
c.1078-28A>C (n.1078-28A>C)
c.1087-28A>C (n.1087-28A>C)
n.341-162T>G
 gnomAD v4
3g.177038202C>ACA2668595510TBL1XR1,TBL1XR1-AS1c.1048-30G>T (n.1048-30G>T)
c.787-30G>T (n.787-30G>T)
n.233-30G>T
c.647-30G>T
c.1078-30G>T (n.1078-30G>T)
c.1087-30G>T (n.1087-30G>T)
n.341-160C>A
 gnomAD v4
3g.177038202C>TCA2668595511TBL1XR1,TBL1XR1-AS1c.1048-30G>A (n.1048-30G>A)
c.787-30G>A (n.787-30G>A)
n.233-30G>A
c.647-30G>A
c.1078-30G>A (n.1078-30G>A)
c.1087-30G>A (n.1087-30G>A)
n.341-160C>T
 gnomAD v4

Number of alleles fetched