Chr Mutation (hg38) CAid Gene Transcript Linkouts
9g.127658453_127660122delCA916083067STXBP1c.204+2_283+14del
c.246+2_325+14del
c.269+2_348+14del
c.*1110+2_*1189+14del
c.188+2_267+14del
c.135+2_214+14del
 ClinVar
9g.127660030_127660059delCA2573144041STXBP1c.205_234del
c.247_276del
c.270_299del
c.*1111_*1140del
c.189_218del
c.136_165del
 ClinVar dbSNP
9g.127660056delCA2695211179STXBP1c.231del (p.Phe77LeufsTer29)
c.273del (p.Phe91LeufsTer29)
c.296del (p.Leu99Ter)
c.*1137del (n.*1137del)
c.215del
c.162del (p.Phe54LeufsTer29)
c.231del (p.Phe77LeufsTer?)
c.273del (p.Phe91LeufsTer26)
9g.127660056T>ACA200262840STXBP1c.231T>A (p.Phe77Leu)
c.273T>A (p.Phe91Leu)
c.296T>A (p.Leu99Ter)
c.*1137T>A (n.*1137T>A)
c.215T>A
c.162T>A (p.Phe54Leu)
 dbSNP gnomAD v4
9g.127660056T>CCA467218462STXBP1c.231T>C (p.Phe77=)
c.273T>C (p.Phe91=)
c.296T>C (p.Leu99Ser)
c.*1137T>C (n.*1137T>C)
c.215T>C
c.162T>C (p.Phe54=)
9g.127660056T>GCA374931727STXBP1c.231T>G (p.Phe77Leu)
c.273T>G (p.Phe91Leu)
c.296T>G (p.Leu99Ter)
c.*1137T>G (n.*1137T>G)
c.215T>G
c.162T>G (p.Phe54Leu)
9g.127660056T=CA1879905895STXBP1c.231T= (p.Phe77=)
c.273T= (p.Phe91=)
c.296T= (p.Leu99=)
c.*1137T= (n.*1137T=)
c.215T=
c.162T= (p.Phe54=)
9g.127660057A>CCA374931729STXBP1c.232A>C (p.Lys78Gln)
c.274A>C (p.Lys92Gln)
c.297A>C (p.Leu99Phe)
c.*1138A>C (n.*1138A>C)
c.216A>C
c.163A>C (p.Lys55Gln)
9g.127660057A>GCA374931730STXBP1c.232A>G (p.Lys78Glu)
c.274A>G (p.Lys92Glu)
c.297A>G (p.Leu99=)
c.*1138A>G (n.*1138A>G)
c.216A>G
c.163A>G (p.Lys55Glu)
9g.127660057A>TCA374931728STXBP1c.232A>T (p.Lys78Ter)
c.274A>T (p.Lys92Ter)
c.297A>T (p.Leu99Phe)
c.*1138A>T (n.*1138A>T)
c.216A>T
c.163A>T (p.Lys55Ter)
9g.127660058A>CCA374931731STXBP1c.233A>C (p.Lys78Thr)
c.275A>C (p.Lys92Thr)
c.298A>C (p.Arg100=)
c.*1139A>C (n.*1139A>C)
c.217A>C
c.164A>C (p.Lys55Thr)
9g.127660058A>GCA374931732STXBP1c.233A>G (p.Lys78Arg)
c.275A>G (p.Lys92Arg)
c.298A>G (p.Arg100Gly)
c.*1139A>G (n.*1139A>G)
c.217A>G
c.164A>G (p.Lys55Arg)
9g.127660058A>TCA374931733STXBP1c.233A>T (p.Lys78Met)
c.275A>T (p.Lys92Met)
c.298A>T (p.Arg100Trp)
c.*1139A>T (n.*1139A>T)
c.217A>T
c.164A>T (p.Lys55Met)
9g.127660059G>ACA467218470STXBP1c.234G>A (p.Lys78=)
c.276G>A (p.Lys92=)
c.299G>A (p.Arg100Lys)
c.*1140G>A (n.*1140G>A)
c.218G>A
c.165G>A (p.Lys55=)
 COSMIC COSMIC
9g.127660059G>CCA374931734STXBP1c.234G>C (p.Lys78Asn)
c.276G>C (p.Lys92Asn)
c.299G>C (p.Arg100Thr)
c.*1140G>C (n.*1140G>C)
c.218G>C
c.165G>C (p.Lys55Asn)
9g.127660059G>TCA374931735STXBP1c.234G>T (p.Lys78Asn)
c.276G>T (p.Lys92Asn)
c.299G>T (p.Arg100Met)
c.*1140G>T (n.*1140G>T)
c.218G>T
c.165G>T (p.Lys55Asn)
9g.127660060G>ACA374931738STXBP1c.235G>A (p.Asp79Asn)
c.277G>A (p.Asp93Asn)
c.300G>A (p.Arg100=)
c.*1141G>A (n.*1141G>A)
c.219G>A
c.166G>A (p.Asp56Asn)
9g.127660060G>CCA374931737STXBP1c.235G>C (p.Asp79His)
c.277G>C (p.Asp93His)
c.300G>C (p.Arg100Ser)
c.*1141G>C (n.*1141G>C)
c.219G>C
c.166G>C (p.Asp56His)
9g.127660060G>TCA374931736STXBP1c.235G>T (p.Asp79Tyr)
c.277G>T (p.Asp93Tyr)
c.300G>T (p.Arg100Ser)
c.*1141G>T (n.*1141G>T)
c.219G>T
c.166G>T (p.Asp56Tyr)
9g.127660061A=CA1879905901STXBP1c.236A= (p.Asp79=)
c.278A= (p.Asp93=)
c.301A= (p.Thr101=)
c.*1142A= (n.*1142A=)
c.220A=
c.167A= (p.Asp56=)
9g.127660061A>CCA374931739STXBP1c.236A>C (p.Asp79Ala)
c.278A>C (p.Asp93Ala)
c.301A>C (p.Thr101Pro)
c.*1142A>C (n.*1142A>C)
c.220A>C
c.167A>C (p.Asp56Ala)
 dbSNP
9g.127660061A>GCA374931740STXBP1c.236A>G (p.Asp79Gly)
c.278A>G (p.Asp93Gly)
c.301A>G (p.Thr101Ala)
c.*1142A>G (n.*1142A>G)
c.220A>G
c.167A>G (p.Asp56Gly)
9g.127660061A>TCA374931741STXBP1c.236A>T (p.Asp79Val)
c.278A>T (p.Asp93Val)
c.301A>T (p.Thr101Ser)
c.*1142A>T (n.*1142A>T)
c.220A>T
c.167A>T (p.Asp56Val)
9g.127660062C>ACA374931742STXBP1c.237C>A (p.Asp79Glu)
c.279C>A (p.Asp93Glu)
c.302C>A (p.Thr101Asn)
c.*1143C>A (n.*1143C>A)
c.221C>A
c.168C>A (p.Asp56Glu)
9g.127660062C=CA1879905904STXBP1c.237C= (p.Asp79=)
c.279C= (p.Asp93=)
c.302C= (p.Thr101=)
c.*1143C= (n.*1143C=)
c.221C=
c.168C= (p.Asp56=)
9g.127660062C>GCA374931743STXBP1c.237C>G (p.Asp79Glu)
c.279C>G (p.Asp93Glu)
c.302C>G (p.Thr101Ser)
c.*1143C>G (n.*1143C>G)
c.221C>G
c.168C>G (p.Asp56Glu)
9g.127660062C>TCA200262841STXBP1c.237C>T (p.Asp79=)
c.279C>T (p.Asp93=)
c.302C>T (p.Thr101Ile)
c.*1143C>T (n.*1143C>T)
c.221C>T
c.168C>T (p.Asp56=)
 dbSNP gnomAD v3 gnomAD v4
9g.127660063C>ACA374931744STXBP1c.238C>A (p.Pro80Thr)
c.280C>A (p.Pro94Thr)
c.303C>A (p.Thr101=)
c.*1144C>A (n.*1144C>A)
c.222C>A
c.169C>A (p.Pro57Thr)
9g.127660063C>GCA374931746STXBP1c.238C>G (p.Pro80Ala)
c.280C>G (p.Pro94Ala)
c.303C>G (p.Thr101=)
c.*1144C>G (n.*1144C>G)
c.222C>G
c.169C>G (p.Pro57Ala)
9g.127660063C>TCA374931745STXBP1c.238C>T (p.Pro80Ser)
c.280C>T (p.Pro94Ser)
c.303C>T (p.Thr101=)
c.*1144C>T (n.*1144C>T)
c.222C>T
c.169C>T (p.Pro57Ser)
9g.127660064C>ACA374931747STXBP1c.239C>A (p.Pro80Gln)
c.281C>A (p.Pro94Gln)
c.304C>A (p.Arg102Ser)
c.*1145C>A (n.*1145C>A)
c.223C>A
c.170C>A (p.Pro57Gln)
9g.127660064C=CA1879905907STXBP1c.239C= (p.Pro80=)
c.281C= (p.Pro94=)
c.304C= (p.Arg102=)
c.*1145C= (n.*1145C=)
c.223C=
c.170C= (p.Pro57=)
9g.127660064C>GCA374931748STXBP1c.239C>G (p.Pro80Arg)
c.281C>G (p.Pro94Arg)
c.304C>G (p.Arg102Gly)
c.*1145C>G (n.*1145C>G)
c.223C>G
c.170C>G (p.Pro57Arg)
9g.127660064C>TCA318832STXBP1c.239C>T (p.Pro80Leu)
c.281C>T (p.Pro94Leu)
c.304C>T (p.Arg102Cys)
c.*1145C>T (n.*1145C>T)
c.223C>T
c.170C>T (p.Pro57Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.127660065G>ACA5248282STXBP1c.240G>A (p.Pro80=)
c.282G>A (p.Pro94=)
c.305G>A (p.Arg102His)
c.*1146G>A (n.*1146G>A)
c.224G>A
c.171G>A (p.Pro57=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.127660065G>CCA467218486STXBP1c.240G>C (p.Pro80=)
c.282G>C (p.Pro94=)
c.305G>C (p.Arg102Pro)
c.*1146G>C (n.*1146G>C)
c.224G>C
c.171G>C (p.Pro57=)
9g.127660065G=CA1879905912STXBP1c.240G= (p.Pro80=)
c.282G= (p.Pro94=)
c.305G= (p.Arg102=)
c.*1146G= (n.*1146G=)
c.224G=
c.171G= (p.Pro57=)
9g.127660065G>TCA5248281STXBP1c.240G>T (p.Pro80=)
c.282G>T (p.Pro94=)
c.305G>T (p.Arg102Leu)
c.*1146G>T (n.*1146G>T)
c.224G>T
c.171G>T (p.Pro57=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.127660066C>ACA374931750STXBP1c.241C>A (p.Pro81Thr)
c.283C>A (p.Pro95Thr)
c.306C>A (p.Arg102=)
c.*1147C>A (n.*1147C>A)
c.225C>A
c.172C>A (p.Pro58Thr)
9g.127660066C>GCA374931752STXBP1c.241C>G (p.Pro81Ala)
c.283C>G (p.Pro95Ala)
c.306C>G (p.Arg102=)
c.*1147C>G (n.*1147C>G)
c.225C>G
c.172C>G (p.Pro58Ala)
9g.127660066C>TCA374931753STXBP1c.241C>T (p.Pro81Ser)
c.283C>T (p.Pro95Ser)
c.306C>T (p.Arg102=)
c.*1147C>T (n.*1147C>T)
c.225C>T
c.172C>T (p.Pro58Ser)
9g.127660067C>ACA374931754STXBP1c.242C>A (p.Pro81Gln)
c.284C>A (p.Pro95Gln)
c.307C>A (p.Arg103=)
c.*1148C>A (n.*1148C>A)
c.226C>A
c.173C>A (p.Pro58Gln)
9g.127660067C=CA1879905918STXBP1c.242C= (p.Pro81=)
c.284C= (p.Pro95=)
c.307C= (p.Arg103=)
c.*1148C= (n.*1148C=)
c.226C=
c.173C= (p.Pro58=)
9g.127660067C>GCA374931755STXBP1c.242C>G (p.Pro81Arg)
c.284C>G (p.Pro95Arg)
c.307C>G (p.Arg103Gly)
c.*1148C>G (n.*1148C>G)
c.226C>G
c.173C>G (p.Pro58Arg)
9g.127660067C>TCA374931756STXBP1c.242C>T (p.Pro81Leu)
c.284C>T (p.Pro95Leu)
c.307C>T (p.Arg103Ter)
c.*1148C>T (n.*1148C>T)
c.226C>T
c.173C>T (p.Pro58Leu)
 ClinVar dbSNP gnomAD v2 gnomAD v4
9g.127660068G>ACA5248283STXBP1c.243G>A (p.Pro81=)
c.285G>A (p.Pro95=)
c.308G>A (p.Arg103Gln)
c.*1149G>A (n.*1149G>A)
c.227G>A
c.174G>A (p.Pro58=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.127660068G>CCA467218489STXBP1c.243G>C (p.Pro81=)
c.285G>C (p.Pro95=)
c.308G>C (p.Arg103Pro)
c.*1149G>C (n.*1149G>C)
c.227G>C
c.174G>C (p.Pro58=)
9g.127660068G=CA1879905923STXBP1c.243G= (p.Pro81=)
c.285G= (p.Pro95=)
c.308G= (p.Arg103=)
c.*1149G= (n.*1149G=)
c.227G=
c.174G= (p.Pro58=)
9g.127660068G>TCA467218491STXBP1c.243G>T (p.Pro81=)
c.285G>T (p.Pro95=)
c.308G>T (p.Arg103Leu)
c.*1149G>T (n.*1149G>T)
c.227G>T
c.174G>T (p.Pro58=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.127660069A>CCA374931758STXBP1c.244A>C (p.Thr82Pro)
c.286A>C (p.Thr96Pro)
c.309A>C (p.Arg103=)
c.*1150A>C (n.*1150A>C)
c.228A>C
c.175A>C (p.Thr59Pro)
9g.127660069A>GCA374931759STXBP1c.244A>G (p.Thr82Ala)
c.286A>G (p.Thr96Ala)
c.309A>G (p.Arg103=)
c.*1150A>G (n.*1150A>G)
c.228A>G
c.175A>G (p.Thr59Ala)
9g.127660069A>TCA374931757STXBP1c.244A>T (p.Thr82Ser)
c.286A>T (p.Thr96Ser)
c.309A>T (p.Arg103=)
c.*1150A>T (n.*1150A>T)
c.228A>T
c.175A>T (p.Thr59Ser)
9g.127660070C>ACA374931762STXBP1c.245C>A (p.Thr82Asn)
c.287C>A (p.Thr96Asn)
c.310C>A (p.Leu104Met)
c.*1151C>A (n.*1151C>A)
c.229C>A
c.176C>A (p.Thr59Asn)
9g.127660070C=CA1879905927STXBP1c.245C= (p.Thr82=)
c.287C= (p.Thr96=)
c.310C= (p.Leu104=)
c.*1151C= (n.*1151C=)
c.229C=
c.176C= (p.Thr59=)
9g.127660070C>GCA374931760STXBP1c.245C>G (p.Thr82Ser)
c.287C>G (p.Thr96Ser)
c.310C>G (p.Leu104Val)
c.*1151C>G (n.*1151C>G)
c.229C>G
c.176C>G (p.Thr59Ser)
 dbSNP gnomAD v3 gnomAD v4
9g.127660070C>TCA374931761STXBP1c.245C>T (p.Thr82Ile)
c.287C>T (p.Thr96Ile)
c.310C>T (p.Leu104=)
c.*1151C>T (n.*1151C>T)
c.229C>T
c.176C>T (p.Thr59Ile)
9g.127660071T>ACA467218493STXBP1c.246T>A (p.Thr82=)
c.288T>A (p.Thr96=)
c.311T>A (p.Leu104Gln)
c.*1152T>A (n.*1152T>A)
c.230T>A
c.177T>A (p.Thr59=)
9g.127660071T>CCA467218495STXBP1c.246T>C (p.Thr82=)
c.288T>C (p.Thr96=)
c.311T>C (p.Leu104Pro)
c.*1152T>C (n.*1152T>C)
c.230T>C
c.177T>C (p.Thr59=)
9g.127660071T>GCA467218498STXBP1c.246T>G (p.Thr82=)
c.288T>G (p.Thr96=)
c.311T>G (p.Leu104Arg)
c.*1152T>G (n.*1152T>G)
c.230T>G
c.177T>G (p.Thr59=)
9g.127660072G>ACA374931763STXBP1c.247G>A (p.Ala83Thr)
c.289G>A (p.Ala97Thr)
c.312G>A (p.Leu104=)
c.*1153G>A (n.*1153G>A)
c.231G>A
c.178G>A (p.Ala60Thr)
9g.127660072G>CCA374931764STXBP1c.247G>C (p.Ala83Pro)
c.289G>C (p.Ala97Pro)
c.312G>C (p.Leu104=)
c.*1153G>C (n.*1153G>C)
c.231G>C
c.178G>C (p.Ala60Pro)
9g.127660072G>TCA374931765STXBP1c.247G>T (p.Ala83Ser)
c.289G>T (p.Ala97Ser)
c.312G>T (p.Leu104=)
c.*1153G>T (n.*1153G>T)
c.231G>T
c.178G>T (p.Ala60Ser)
 COSMIC COSMIC
9g.127660073C>ACA374931766STXBP1c.248C>A (p.Ala83Asp)
c.290C>A (p.Ala97Asp)
c.313C>A (p.Leu105Ile)
c.*1154C>A (n.*1154C>A)
c.232C>A
c.179C>A (p.Ala60Asp)
9g.127660073C>GCA374931767STXBP1c.248C>G (p.Ala83Gly)
c.290C>G (p.Ala97Gly)
c.313C>G (p.Leu105Val)
c.*1154C>G (n.*1154C>G)
c.232C>G
c.179C>G (p.Ala60Gly)
9g.127660073C>TCA374931768STXBP1c.248C>T (p.Ala83Val)
c.290C>T (p.Ala97Val)
c.313C>T (p.Leu105=)
c.*1154C>T (n.*1154C>T)
c.232C>T
c.179C>T (p.Ala60Val)
 gnomAD v4
9g.127660074T>ACA467218502STXBP1c.249T>A (p.Ala83=)
c.291T>A (p.Ala97=)
c.314T>A (p.Leu105Gln)
c.*1155T>A (n.*1155T>A)
c.233T>A
c.180T>A (p.Ala60=)
9g.127660074T>CCA467218505STXBP1c.249T>C (p.Ala83=)
c.291T>C (p.Ala97=)
c.314T>C (p.Leu105Pro)
c.*1155T>C (n.*1155T>C)
c.233T>C
c.180T>C (p.Ala60=)
9g.127660074T>GCA467218503STXBP1c.249T>G (p.Ala83=)
c.291T>G (p.Ala97=)
c.314T>G (p.Leu105Arg)
c.*1155T>G (n.*1155T>G)
c.233T>G
c.180T>G (p.Ala60=)
9g.127660074_127660075delinsTACA1879905930STXBP1c.249_250delinsTA (p.Ala83=)
c.291_292delinsTA (p.Ala97=)
c.314_315delinsTA (p.Leu105=)
c.*1155_*1156delinsTA (n.*1155_*1156delinsTA)
c.233_234delinsTA
c.180_181delinsTA (p.Ala60=)
9g.127660075A>CCA374931769STXBP1c.250A>C (p.Lys84Gln)
c.292A>C (p.Lys98Gln)
c.315A>C (p.Leu105=)
c.*1156A>C (n.*1156A>C)
c.234A>C
c.181A>C (p.Lys61Gln)
9g.127660075A>GCA374931770STXBP1c.250A>G (p.Lys84Glu)
c.292A>G (p.Lys98Glu)
c.315A>G (p.Leu105=)
c.*1156A>G (n.*1156A>G)
c.234A>G
c.181A>G (p.Lys61Glu)
9g.127660075A>TCA374931771STXBP1c.250A>T (p.Lys84Ter)
c.292A>T (p.Lys98Ter)
c.315A>T (p.Leu105=)
c.*1156A>T (n.*1156A>T)
c.234A>T
c.181A>T (p.Lys61Ter)
9g.127660077delCA915947150STXBP1c.252del (p.Lys84AsnfsTer22)
c.294del (p.Lys98AsnfsTer22)
c.317del (p.Asn106IlefsTer10)
c.*1158del (n.*1158del)
c.236del
c.183del (p.Lys61AsnfsTer22)
c.252del (p.Lys84AsnfsTer?)
c.294del (p.Lys98AsnfsTer19)
 ClinVar dbSNP
9g.127660076A>CCA374931774STXBP1c.251A>C (p.Lys84Thr)
c.293A>C (p.Lys98Thr)
c.316A>C (p.Asn106His)
c.*1157A>C (n.*1157A>C)
c.235A>C
c.182A>C (p.Lys61Thr)
9g.127660076A>GCA374931773STXBP1c.251A>G (p.Lys84Arg)
c.293A>G (p.Lys98Arg)
c.316A>G (p.Asn106Asp)
c.*1157A>G (n.*1157A>G)
c.235A>G
c.182A>G (p.Lys61Arg)
9g.127660076A>TCA374931772STXBP1c.251A>T (p.Lys84Ile)
c.293A>T (p.Lys98Ile)
c.316A>T (p.Asn106Tyr)
c.*1157A>T (n.*1157A>T)
c.235A>T
c.182A>T (p.Lys61Ile)
9g.127660077A>CCA374931775STXBP1c.252A>C (p.Lys84Asn)
c.294A>C (p.Lys98Asn)
c.317A>C (p.Asn106Thr)
c.*1158A>C (n.*1158A>C)
c.236A>C
c.183A>C (p.Lys61Asn)
 ClinVar
9g.127660077A>GCA467218508STXBP1c.252A>G (p.Lys84=)
c.294A>G (p.Lys98=)
c.317A>G (p.Asn106Ser)
c.*1158A>G (n.*1158A>G)
c.236A>G
c.183A>G (p.Lys61=)
9g.127660077A>TCA374931776STXBP1c.252A>T (p.Lys84Asn)
c.294A>T (p.Lys98Asn)
c.317A>T (p.Asn106Ile)
c.*1158A>T (n.*1158A>T)
c.236A>T
c.183A>T (p.Lys61Asn)
9g.127660078T>ACA374931777STXBP1c.253T>A (p.Tyr85Asn)
c.295T>A (p.Tyr99Asn)
c.318T>A (p.Asn106Lys)
c.*1159T>A (n.*1159T>A)
c.237T>A
c.184T>A (p.Tyr62Asn)
9g.127660078T>CCA374931778STXBP1c.253T>C (p.Tyr85His)
c.295T>C (p.Tyr99His)
c.318T>C (p.Asn106=)
c.*1159T>C (n.*1159T>C)
c.237T>C
c.184T>C (p.Tyr62His)
9g.127660078T>GCA374931779STXBP1c.253T>G (p.Tyr85Asp)
c.295T>G (p.Tyr99Asp)
c.318T>G (p.Asn106Lys)
c.*1159T>G (n.*1159T>G)
c.237T>G
c.184T>G (p.Tyr62Asp)
9g.127660078_127660082delinsGACCA2695211180STXBP1c.253_257delinsGAC (p.Tyr85AspfsTer9)
c.295_299delinsGAC (p.Tyr99AspfsTer9)
c.318_322delinsGAC (p.Asn106LysfsTer?)
c.*1159_*1163delinsGAC (n.*1159_*1163delinsGAC)
c.237_241delinsGAC
c.184_188delinsGAC (p.Tyr62AspfsTer9)
9g.127660079A>CCA374931780STXBP1c.254A>C (p.Tyr85Ser)
c.296A>C (p.Tyr99Ser)
c.319A>C (p.Thr107Pro)
c.*1160A>C (n.*1160A>C)
c.238A>C
c.185A>C (p.Tyr62Ser)
9g.127660079A>GCA374931781STXBP1c.254A>G (p.Tyr85Cys)
c.296A>G (p.Tyr99Cys)
c.319A>G (p.Thr107Ala)
c.*1160A>G (n.*1160A>G)
c.238A>G
c.185A>G (p.Tyr62Cys)
9g.127660079A>TCA374931782STXBP1c.254A>T (p.Tyr85Phe)
c.296A>T (p.Tyr99Phe)
c.319A>T (p.Thr107Ser)
c.*1160A>T (n.*1160A>T)
c.238A>T
c.185A>T (p.Tyr62Phe)
9g.127660079_127660080delinsACCA1879905935STXBP1c.254_255delinsAC (p.Tyr85=)
c.296_297delinsAC (p.Tyr99=)
c.319_320delinsAC (p.Thr107=)
c.*1160_*1161delinsAC (n.*1160_*1161delinsAC)
c.238_239delinsAC
c.185_186delinsAC (p.Tyr62=)
9g.127660080C>ACA374931783STXBP1c.255C>A (p.Tyr85Ter)
c.297C>A (p.Tyr99Ter)
c.320C>A (p.Thr107Asn)
c.*1161C>A (n.*1161C>A)
c.239C>A
c.186C>A (p.Tyr62Ter)
9g.127660080C=CA1879905941STXBP1c.255C= (p.Tyr85=)
c.297C= (p.Tyr99=)
c.320C= (p.Thr107=)
c.*1161C= (n.*1161C=)
c.239C=
c.186C= (p.Tyr62=)
9g.127660080C>GCA374931784STXBP1c.255C>G (p.Tyr85Ter)
c.297C>G (p.Tyr99Ter)
c.320C>G (p.Thr107Ser)
c.*1161C>G (n.*1161C>G)
c.239C>G
c.186C>G (p.Tyr62Ter)
9g.127660080C>TCA5248284STXBP1c.255C>T (p.Tyr85=)
c.297C>T (p.Tyr99=)
c.320C>T (p.Thr107Ile)
c.*1161C>T (n.*1161C>T)
c.239C>T
c.186C>T (p.Tyr62=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
9g.127660081delCA658797267STXBP1c.256del (p.Arg86GlyfsTer20)
c.298del (p.Arg100GlyfsTer20)
c.321del (p.Leu109CysfsTer7)
c.*1162del (n.*1162del)
c.240del
c.187del (p.Arg63GlyfsTer20)
c.256del (p.Arg86GlyfsTer?)
c.298del (p.Arg100GlyfsTer17)
 ClinVar dbSNP
9g.127660081C>ACA467218513STXBP1c.256C>A (p.Arg86=)
c.298C>A (p.Arg100=)
c.321C>A (p.Thr107=)
c.*1162C>A (n.*1162C>A)
c.240C>A
c.187C>A (p.Arg63=)
9g.127660081C=CA1879905947STXBP1c.256C= (p.Arg86=)
c.298C= (p.Arg100=)
c.321C= (p.Thr107=)
c.*1162C= (n.*1162C=)
c.240C=
c.187C= (p.Arg63=)
9g.127660081C>GCA374931785STXBP1c.256C>G (p.Arg86Gly)
c.298C>G (p.Arg100Gly)
c.321C>G (p.Thr107=)
c.*1162C>G (n.*1162C>G)
c.240C>G
c.187C>G (p.Arg63Gly)
9g.127660081C>TCA5248285STXBP1c.256C>T (p.Arg86Trp)
c.298C>T (p.Arg100Trp)
c.321C>T (p.Thr107=)
c.*1162C>T (n.*1162C>T)
c.240C>T
c.187C>T (p.Arg63Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
9g.127660082G>ACA5248286STXBP1c.257G>A (p.Arg86Gln)
c.299G>A (p.Arg100Gln)
c.322G>A (p.Gly108Arg)
c.*1163G>A (n.*1163G>A)
c.241G>A
c.188G>A (p.Arg63Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.127660082G>CCA374931787STXBP1c.257G>C (p.Arg86Pro)
c.299G>C (p.Arg100Pro)
c.322G>C (p.Gly108Arg)
c.*1163G>C (n.*1163G>C)
c.241G>C
c.188G>C (p.Arg63Pro)
9g.127660082G=CA1879905950STXBP1c.257G= (p.Arg86=)
c.299G= (p.Arg100=)
c.322G= (p.Gly108=)
c.*1163G= (n.*1163G=)
c.241G=
c.188G= (p.Arg63=)
9g.127660082G>TCA374931786STXBP1c.257G>T (p.Arg86Leu)
c.299G>T (p.Arg100Leu)
c.322G>T (p.Gly108Trp)
c.*1163G>T (n.*1163G>T)
c.241G>T
c.188G>T (p.Arg63Leu)
9g.127660083G>ACA467218517STXBP1c.258G>A (p.Arg86=)
c.300G>A (p.Arg100=)
c.323G>A (p.Gly108Glu)
c.*1164G>A (n.*1164G>A)
c.242G>A
c.189G>A (p.Arg63=)
 ClinVar
9g.127660083G>CCA467218518STXBP1c.258G>C (p.Arg86=)
c.300G>C (p.Arg100=)
c.323G>C (p.Gly108Ala)
c.*1164G>C (n.*1164G>C)
c.242G>C
c.189G>C (p.Arg63=)
9g.127660083G>TCA467218516STXBP1c.258G>T (p.Arg86=)
c.300G>T (p.Arg100=)
c.323G>T (p.Gly108Val)
c.*1164G>T (n.*1164G>T)
c.242G>T
c.189G>T (p.Arg63=)
9g.127660083_127660086delinsGGCTCA1879905953STXBP1c.258_261delinsGGCT (p.Arg86=)
c.300_303delinsGGCT (p.Arg100=)
c.323_326delinsGGCT (p.Gly108=)
c.*1164_*1167delinsGGCT (n.*1164_*1167delinsGGCT)
c.242_245delinsGGCT
c.189_192delinsGGCT (p.Arg63=)
9g.127660084G>ACA374931788STXBP1c.259G>A (p.Ala87Thr)
c.301G>A (p.Ala101Thr)
c.324G>A (p.Gly108=)
c.*1165G>A (n.*1165G>A)
c.243G>A
c.190G>A (p.Ala64Thr)
 gnomAD v4
9g.127660084G>CCA374931789STXBP1c.259G>C (p.Ala87Pro)
c.301G>C (p.Ala101Pro)
c.324G>C (p.Gly108=)
c.*1165G>C (n.*1165G>C)
c.243G>C
c.190G>C (p.Ala64Pro)
9g.127660084G>TCA374931790STXBP1c.259G>T (p.Ala87Ser)
c.301G>T (p.Ala101Ser)
c.324G>T (p.Gly108=)
c.*1165G>T (n.*1165G>T)
c.243G>T
c.190G>T (p.Ala64Ser)
9g.127660086_127660088delCA915947151STXBP1c.261_263del (p.Ala88del)
c.303_305del (p.Ala102del)
c.326_328del (p.Leu109del)
c.*1167_*1169del (n.*1167_*1169del)
c.245_247del
c.192_194del (p.Ala65del)
 ClinVar dbSNP
9g.127660085C>ACA374931791STXBP1c.260C>A (p.Ala87Asp)
c.302C>A (p.Ala101Asp)
c.325C>A (p.Leu109Met)
c.*1166C>A (n.*1166C>A)
c.244C>A
c.191C>A (p.Ala64Asp)
9g.127660085C=CA1879905961STXBP1c.260C= (p.Ala87=)
c.302C= (p.Ala101=)
c.325C= (p.Leu109=)
c.*1166C= (n.*1166C=)
c.244C=
c.191C= (p.Ala64=)
9g.127660085C>GCA374931792STXBP1c.260C>G (p.Ala87Gly)
c.302C>G (p.Ala101Gly)
c.325C>G (p.Leu109Val)
c.*1166C>G (n.*1166C>G)
c.244C>G
c.191C>G (p.Ala64Gly)
9g.127660085C>TCA200262842STXBP1c.260C>T (p.Ala87Val)
c.302C>T (p.Ala101Val)
c.325C>T (p.Leu109=)
c.*1166C>T (n.*1166C>T)
c.244C>T
c.191C>T (p.Ala64Val)
 ClinVar dbSNP gnomAD v4
9g.127660086T>ACA467218519STXBP1c.261T>A (p.Ala87=)
c.303T>A (p.Ala101=)
c.326T>A (p.Leu109Gln)
c.*1167T>A (n.*1167T>A)
c.245T>A
c.192T>A (p.Ala64=)
9g.127660086T>CCA467218521STXBP1c.261T>C (p.Ala87=)
c.303T>C (p.Ala101=)
c.326T>C (p.Leu109Pro)
c.*1167T>C (n.*1167T>C)
c.245T>C
c.192T>C (p.Ala64=)
 dbSNP gnomAD v2 gnomAD v4
9g.127660086T>GCA467218522STXBP1c.261T>G (p.Ala87=)
c.303T>G (p.Ala101=)
c.326T>G (p.Leu109Arg)
c.*1167T>G (n.*1167T>G)
c.245T>G
c.192T>G (p.Ala64=)
9g.127660086T=CA1879905967STXBP1c.261T= (p.Ala87=)
c.303T= (p.Ala101=)
c.326T= (p.Leu109=)
c.*1167T= (n.*1167T=)
c.245T=
c.192T= (p.Ala64=)
9g.127660087G>ACA374931793STXBP1c.262G>A (p.Ala88Thr)
c.304G>A (p.Ala102Thr)
c.327G>A (p.Leu109=)
c.*1168G>A (n.*1168G>A)
c.246G>A
c.193G>A (p.Ala65Thr)
9g.127660087G>CCA374931794STXBP1c.262G>C (p.Ala88Pro)
c.304G>C (p.Ala102Pro)
c.327G>C (p.Leu109=)
c.*1168G>C (n.*1168G>C)
c.246G>C
c.193G>C (p.Ala65Pro)
9g.127660087G>TCA374931795STXBP1c.262G>T (p.Ala88Ser)
c.304G>T (p.Ala102Ser)
c.327G>T (p.Leu109=)
c.*1168G>T (n.*1168G>T)
c.246G>T
c.193G>T (p.Ala65Ser)
9g.127660088C>ACA374931796STXBP1c.263C>A (p.Ala88Glu)
c.305C>A (p.Ala102Glu)
c.328C>A (p.His110Asn)
c.*1169C>A (n.*1169C>A)
c.247C>A
c.194C>A (p.Ala65Glu)
9g.127660088C=CA1879905972STXBP1c.263C= (p.Ala88=)
c.305C= (p.Ala102=)
c.328C= (p.His110=)
c.*1169C= (n.*1169C=)
c.247C=
c.194C= (p.Ala65=)
9g.127660088C>GCA374931797STXBP1c.263C>G (p.Ala88Gly)
c.305C>G (p.Ala102Gly)
c.328C>G (p.His110Asp)
c.*1169C>G (n.*1169C>G)
c.247C>G
c.194C>G (p.Ala65Gly)
9g.127660088C>TCA374931798STXBP1c.263C>T (p.Ala88Val)
c.305C>T (p.Ala102Val)
c.328C>T (p.His110Tyr)
c.*1169C>T (n.*1169C>T)
c.247C>T
c.194C>T (p.Ala65Val)
 ClinVar dbSNP
9g.127660089A=CA1879905976STXBP1c.264A= (p.Ala88=)
c.306A= (p.Ala102=)
c.329A= (p.His110=)
c.*1170A= (n.*1170A=)
c.248A=
c.195A= (p.Ala65=)
9g.127660089A>CCA467218527STXBP1c.264A>C (p.Ala88=)
c.306A>C (p.Ala102=)
c.329A>C (p.His110Pro)
c.*1170A>C (n.*1170A>C)
c.248A>C
c.195A>C (p.Ala65=)
9g.127660089A>GCA5248287STXBP1c.264A>G (p.Ala88=)
c.306A>G (p.Ala102=)
c.329A>G (p.His110Arg)
c.*1170A>G (n.*1170A>G)
c.248A>G
c.195A>G (p.Ala65=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.127660089A>TCA467218528STXBP1c.264A>T (p.Ala88=)
c.306A>T (p.Ala102=)
c.329A>T (p.His110Leu)
c.*1170A>T (n.*1170A>T)
c.248A>T
c.195A>T (p.Ala65=)
9g.127660090C>ACA374931800STXBP1c.265C>A (p.His89Asn)
c.307C>A (p.His103Asn)
c.330C>A (p.His110Gln)
c.*1171C>A (n.*1171C>A)
c.249C>A
c.196C>A (p.His66Asn)
9g.127660090C=CA1879905979STXBP1c.265C= (p.His89=)
c.307C= (p.His103=)
c.330C= (p.His110=)
c.*1171C= (n.*1171C=)
c.249C=
c.196C= (p.His66=)
9g.127660090C>GCA374931801STXBP1c.265C>G (p.His89Asp)
c.307C>G (p.His103Asp)
c.330C>G (p.His110Gln)
c.*1171C>G (n.*1171C>G)
c.249C>G
c.196C>G (p.His66Asp)
 dbSNP gnomAD v3 gnomAD v4
9g.127660090C>TCA374931799STXBP1c.265C>T (p.His89Tyr)
c.307C>T (p.His103Tyr)
c.330C>T (p.His110=)
c.*1171C>T (n.*1171C>T)
c.249C>T
c.196C>T (p.His66Tyr)
9g.127660091A=CA1879905984STXBP1c.266A= (p.His89=)
c.308A= (p.His103=)
c.331A= (p.Thr111=)
c.*1172A= (n.*1172A=)
c.250A=
c.197A= (p.His66=)
9g.127660091A>CCA374931802STXBP1c.266A>C (p.His89Pro)
c.308A>C (p.His103Pro)
c.331A>C (p.Thr111Pro)
c.*1172A>C (n.*1172A>C)
c.250A>C
c.197A>C (p.His66Pro)
 ClinVar dbSNP
9g.127660091A>GCA374931803STXBP1c.266A>G (p.His89Arg)
c.308A>G (p.His103Arg)
c.331A>G (p.Thr111Ala)
c.*1172A>G (n.*1172A>G)
c.250A>G
c.197A>G (p.His66Arg)
9g.127660091A>TCA374931804STXBP1c.266A>T (p.His89Leu)
c.308A>T (p.His103Leu)
c.331A>T (p.Thr111Ser)
c.*1172A>T (n.*1172A>T)
c.250A>T
c.197A>T (p.His66Leu)
9g.127660092C>ACA374931805STXBP1c.267C>A (p.His89Gln)
c.309C>A (p.His103Gln)
c.332C>A (p.Thr111Lys)
c.*1173C>A (n.*1173C>A)
c.251C>A
c.198C>A (p.His66Gln)
9g.127660092C=CA1879905988STXBP1c.267C= (p.His89=)
c.309C= (p.His103=)
c.332C= (p.Thr111=)
c.*1173C= (n.*1173C=)
c.251C=
c.198C= (p.His66=)
9g.127660092C>GCA374931806STXBP1c.267C>G (p.His89Gln)
c.309C>G (p.His103Gln)
c.332C>G (p.Thr111Arg)
c.*1173C>G (n.*1173C>G)
c.251C>G
c.198C>G (p.His66Gln)
9g.127660092C>TCA5248288STXBP1c.267C>T (p.His89=)
c.309C>T (p.His103=)
c.332C>T (p.Thr111Met)
c.*1173C>T (n.*1173C>T)
c.251C>T
c.198C>T (p.His66=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.127660093G>ACA5248289STXBP1c.268G>A (p.Val90Ile)
c.310G>A (p.Val104Ile)
c.333G>A (p.Thr111=)
c.*1174G>A (n.*1174G>A)
c.252G>A
c.199G>A (p.Val67Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
9g.127660093G>CCA374931807STXBP1c.268G>C (p.Val90Leu)
c.310G>C (p.Val104Leu)
c.333G>C (p.Thr111=)
c.*1174G>C (n.*1174G>C)
c.252G>C
c.199G>C (p.Val67Leu)
9g.127660093G=CA1879905993STXBP1c.268G= (p.Val90=)
c.310G= (p.Val104=)
c.333G= (p.Thr111=)
c.*1174G= (n.*1174G=)
c.252G=
c.199G= (p.Val67=)
9g.127660093G>TCA374931808STXBP1c.268G>T (p.Val90Phe)
c.310G>T (p.Val104Phe)
c.333G>T (p.Thr111=)
c.*1174G>T (n.*1174G>T)
c.252G>T
c.199G>T (p.Val67Phe)
9g.127660093_127660096delinsGTCTCA1879905995STXBP1c.268_271delinsGTCT (p.Val90=)
c.310_313delinsGTCT (p.Val104=)
c.333_336delinsGTCT (p.Thr111=)
c.*1174_*1177delinsGTCT (n.*1174_*1177delinsGTCT)
c.252_255delinsGTCT
c.199_202delinsGTCT (p.Val67=)
9g.127660094T>ACA374931809STXBP1c.269T>A (p.Val90Asp)
c.311T>A (p.Val104Asp)
c.334T>A (p.Ser112Thr)
c.*1175T>A (n.*1175T>A)
c.253T>A
c.200T>A (p.Val67Asp)
 ClinVar dbSNP
9g.127660094T>CCA374931810STXBP1c.269T>C (p.Val90Ala)
c.311T>C (p.Val104Ala)
c.334T>C (p.Ser112Pro)
c.*1175T>C (n.*1175T>C)
c.253T>C
c.200T>C (p.Val67Ala)
9g.127660094T>GCA374931811STXBP1c.269T>G (p.Val90Gly)
c.311T>G (p.Val104Gly)
c.334T>G (p.Ser112Ala)
c.*1175T>G (n.*1175T>G)
c.253T>G
c.200T>G (p.Val67Gly)
9g.127660094T=CA1879906001STXBP1c.269T= (p.Val90=)
c.311T= (p.Val104=)
c.334T= (p.Ser112=)
c.*1175T= (n.*1175T=)
c.253T=
c.200T= (p.Val67=)
9g.127660099_127660101delCA1879905999STXBP1c.274_276del (p.Phe92del)
c.316_318del (p.Phe106del)
c.339_341del (p.Ser114del)
c.*1180_*1182del (n.*1180_*1182del)
c.258_260del
c.205_207del (p.Phe69del)
 ClinVar dbSNP
9g.127660095C>ACA467218536STXBP1c.270C>A (p.Val90=)
c.312C>A (p.Val104=)
c.335C>A (p.Ser112Tyr)
c.*1176C>A (n.*1176C>A)
c.254C>A
c.201C>A (p.Val67=)
9g.127660095C>GCA467218537STXBP1c.270C>G (p.Val90=)
c.312C>G (p.Val104=)
c.335C>G (p.Ser112Cys)
c.*1176C>G (n.*1176C>G)
c.254C>G
c.201C>G (p.Val67=)
9g.127660095C>TCA467218538STXBP1c.270C>T (p.Val90=)
c.312C>T (p.Val104=)
c.335C>T (p.Ser112Phe)
c.*1176C>T (n.*1176C>T)
c.254C>T
c.201C>T (p.Val67=)
9g.127660096T>ACA374931812STXBP1c.271T>A (p.Phe91Ile)
c.313T>A (p.Phe105Ile)
c.336T>A (p.Ser112=)
c.*1177T>A (n.*1177T>A)
c.255T>A
c.202T>A (p.Phe68Ile)
9g.127660096T>CCA374931813STXBP1c.271T>C (p.Phe91Leu)
c.313T>C (p.Phe105Leu)
c.336T>C (p.Ser112=)
c.*1177T>C (n.*1177T>C)
c.255T>C
c.202T>C (p.Phe68Leu)
 ClinVar dbSNP
9g.127660096T>GCA374931814STXBP1c.271T>G (p.Phe91Val)
c.313T>G (p.Phe105Val)
c.336T>G (p.Ser112=)
c.*1177T>G (n.*1177T>G)
c.255T>G
c.202T>G (p.Phe68Val)
 COSMIC COSMIC
9g.127660096T=CA1879906008STXBP1c.271T= (p.Phe91=)
c.313T= (p.Phe105=)
c.336T= (p.Ser112=)
c.*1177T= (n.*1177T=)
c.255T=
c.202T= (p.Phe68=)
9g.127660097T>ACA374931816STXBP1c.272T>A (p.Phe91Tyr)
c.314T>A (p.Phe105Tyr)
c.337T>A (p.Ser113Thr)
c.*1178T>A (n.*1178T>A)
c.256T>A
c.203T>A (p.Phe68Tyr)
9g.127660097T>CCA374931817STXBP1c.272T>C (p.Phe91Ser)
c.314T>C (p.Phe105Ser)
c.337T>C (p.Ser113Pro)
c.*1178T>C (n.*1178T>C)
c.256T>C
c.203T>C (p.Phe68Ser)
9g.127660097T>GCA374931815STXBP1c.272T>G (p.Phe91Cys)
c.314T>G (p.Phe105Cys)
c.337T>G (p.Ser113Ala)
c.*1178T>G (n.*1178T>G)
c.256T>G
c.203T>G (p.Phe68Cys)
9g.127660098C>ACA374931819STXBP1c.273C>A (p.Phe91Leu)
c.315C>A (p.Phe105Leu)
c.338C>A (p.Ser113Tyr)
c.*1179C>A (n.*1179C>A)
c.257C>A
c.204C>A (p.Phe68Leu)
9g.127660098C>GCA374931818STXBP1c.273C>G (p.Phe91Leu)
c.315C>G (p.Phe105Leu)
c.338C>G (p.Ser113Cys)
c.*1179C>G (n.*1179C>G)
c.257C>G
c.204C>G (p.Phe68Leu)
9g.127660098C>TCA467218539STXBP1c.273C>T (p.Phe91=)
c.315C>T (p.Phe105=)
c.338C>T (p.Ser113Phe)
c.*1179C>T (n.*1179C>T)
c.257C>T
c.204C>T (p.Phe68=)
9g.127660099T>ACA374931822STXBP1c.274T>A (p.Phe92Ile)
c.316T>A (p.Phe106Ile)
c.339T>A (p.Ser113=)
c.*1180T>A (n.*1180T>A)
c.258T>A
c.205T>A (p.Phe69Ile)
9g.127660099T>CCA374931820STXBP1c.274T>C (p.Phe92Leu)
c.316T>C (p.Phe106Leu)
c.339T>C (p.Ser113=)
c.*1180T>C (n.*1180T>C)
c.258T>C
c.205T>C (p.Phe69Leu)
9g.127660099T>GCA374931821STXBP1c.274T>G (p.Phe92Val)
c.316T>G (p.Phe106Val)
c.339T>G (p.Ser113=)
c.*1180T>G (n.*1180T>G)
c.258T>G
c.205T>G (p.Phe69Val)
 ClinVar dbSNP
9g.127660100T>ACA374931823STXBP1c.275T>A (p.Phe92Tyr)
c.317T>A (p.Phe106Tyr)
c.340T>A (p.Ser114Thr)
c.*1181T>A (n.*1181T>A)
c.259T>A
c.206T>A (p.Phe69Tyr)
9g.127660100T>CCA374931824STXBP1c.275T>C (p.Phe92Ser)
c.317T>C (p.Phe106Ser)
c.340T>C (p.Ser114Pro)
c.*1181T>C (n.*1181T>C)
c.259T>C
c.206T>C (p.Phe69Ser)
9g.127660100T>GCA374931825STXBP1c.275T>G (p.Phe92Cys)
c.317T>G (p.Phe106Cys)
c.340T>G (p.Ser114Ala)
c.*1181T>G (n.*1181T>G)
c.259T>G
c.206T>G (p.Phe69Cys)
9g.127660101C>ACA374931826STXBP1c.276C>A (p.Phe92Leu)
c.318C>A (p.Phe106Leu)
c.341C>A (p.Ser114Ter)
c.*1182C>A (n.*1182C>A)
c.260C>A
c.207C>A (p.Phe69Leu)
9g.127660101C>GCA374931827STXBP1c.276C>G (p.Phe92Leu)
c.318C>G (p.Phe106Leu)
c.341C>G (p.Ser114Ter)
c.*1182C>G (n.*1182C>G)
c.260C>G
c.207C>G (p.Phe69Leu)
9g.127660101C>TCA467218542STXBP1c.276C>T (p.Phe92=)
c.318C>T (p.Phe106=)
c.341C>T (p.Ser114Leu)
c.*1182C>T (n.*1182C>T)
c.260C>T
c.207C>T (p.Phe69=)
9g.127660102A>CCA374931828STXBP1c.277A>C (p.Thr93Pro)
c.319A>C (p.Thr107Pro)
c.342A>C (p.Ser114=)
c.*1183A>C (n.*1183A>C)
c.261A>C
c.208A>C (p.Thr70Pro)
9g.127660102A>GCA374931829STXBP1c.277A>G (p.Thr93Ala)
c.319A>G (p.Thr107Ala)
c.342A>G (p.Ser114=)
c.*1183A>G (n.*1183A>G)
c.261A>G
c.208A>G (p.Thr70Ala)
 gnomAD v4
9g.127660102A>TCA374931830STXBP1c.277A>T (p.Thr93Ser)
c.319A>T (p.Thr107Ser)
c.342A>T (p.Ser114=)
c.*1183A>T (n.*1183A>T)
c.261A>T
c.208A>T (p.Thr70Ser)
9g.127660106_127660109delCA2580616305STXBP1c.281_283+1del
c.323_325+1del
c.346_348+1del
c.*1187_*1189+1del
c.265_267+1del
c.212_214+1del
 ClinVar dbSNP
9g.127660103C>ACA374931831STXBP1c.278C>A (p.Thr93Asn)
c.320C>A (p.Thr107Asn)
c.343C>A (p.Leu115Met)
c.*1184C>A (n.*1184C>A)
c.262C>A
c.209C>A (p.Thr70Asn)
9g.127660103C>GCA374931832STXBP1c.278C>G (p.Thr93Ser)
c.320C>G (p.Thr107Ser)
c.343C>G (p.Leu115Val)
c.*1184C>G (n.*1184C>G)
c.262C>G
c.209C>G (p.Thr70Ser)
9g.127660103C>TCA374931833STXBP1c.278C>T (p.Thr93Ile)
c.320C>T (p.Thr107Ile)
c.343C>T (p.Leu115=)
c.*1184C>T (n.*1184C>T)
c.262C>T
c.209C>T (p.Thr70Ile)
9g.127660104T>ACA467218544STXBP1c.279T>A (p.Thr93=)
c.321T>A (p.Thr107=)
c.344T>A (p.Leu115Gln)
c.*1185T>A (n.*1185T>A)
c.263T>A
c.210T>A (p.Thr70=)
9g.127660104T>CCA467218546STXBP1c.279T>C (p.Thr93=)
c.321T>C (p.Thr107=)
c.344T>C (p.Leu115Pro)
c.*1185T>C (n.*1185T>C)
c.263T>C
c.210T>C (p.Thr70=)
 gnomAD v4
9g.127660104T>GCA467218545STXBP1c.279T>G (p.Thr93=)
c.321T>G (p.Thr107=)
c.344T>G (p.Leu115Arg)
c.*1185T>G (n.*1185T>G)
c.263T>G
c.210T>G (p.Thr70=)
9g.127660105G>ACA374931834STXBP1c.280G>A (p.Asp94Asn)
c.322G>A (p.Asp108Asn)
c.345G>A (p.Leu115=)
c.*1186G>A (n.*1186G>A)
c.264G>A
c.211G>A (p.Asp71Asn)
9g.127660105G>CCA374931836STXBP1c.280G>C (p.Asp94His)
c.322G>C (p.Asp108His)
c.345G>C (p.Leu115=)
c.*1186G>C (n.*1186G>C)
c.264G>C
c.211G>C (p.Asp71His)
9g.127660105G>TCA374931835STXBP1c.280G>T (p.Asp94Tyr)
c.322G>T (p.Asp108Tyr)
c.345G>T (p.Leu115=)
c.*1186G>T (n.*1186G>T)
c.264G>T
c.211G>T (p.Asp71Tyr)
9g.127660106A>CCA374931837STXBP1c.281A>C (p.Asp94Ala)
c.323A>C (p.Asp108Ala)
c.346A>C (p.Thr116Pro)
c.*1187A>C (n.*1187A>C)
c.265A>C
c.212A>C (p.Asp71Ala)
9g.127660106A>GCA374931838STXBP1c.281A>G (p.Asp94Gly)
c.323A>G (p.Asp108Gly)
c.346A>G (p.Thr116Ala)
c.*1187A>G (n.*1187A>G)
c.265A>G
c.212A>G (p.Asp71Gly)
9g.127660106A>TCA374931839STXBP1c.281A>T (p.Asp94Val)
c.323A>T (p.Asp108Val)
c.346A>T (p.Thr116Ser)
c.*1187A>T (n.*1187A>T)
c.265A>T
c.212A>T (p.Asp71Val)
9g.127660107C>ACA374931840STXBP1c.282C>A (p.Asp94Glu)
c.324C>A (p.Asp108Glu)
c.347C>A (p.Thr116Asn)
c.*1188C>A (n.*1188C>A)
c.266C>A
c.213C>A (p.Asp71Glu)
9g.127660107C=CA1879906013STXBP1c.282C= (p.Asp94=)
c.324C= (p.Asp108=)
c.347C= (p.Thr116=)
c.*1188C= (n.*1188C=)
c.266C=
c.213C= (p.Asp71=)
9g.127660107C>GCA374931841STXBP1c.282C>G (p.Asp94Glu)
c.324C>G (p.Asp108Glu)
c.347C>G (p.Thr116Ser)
c.*1188C>G (n.*1188C>G)
c.266C>G
c.213C>G (p.Asp71Glu)
9g.127660107C>TCA200262843STXBP1c.282C>T (p.Asp94=)
c.324C>T (p.Asp108=)
c.347C>T (p.Thr116Ile)
c.*1188C>T (n.*1188C>T)
c.266C>T
c.213C>T (p.Asp71=)
 dbSNP gnomAD v2 gnomAD v4
9g.127660107_127660109delinsCTGCA1879906015STXBP1c.282_283+1delinsCTG
c.324_325+1delinsCTG
c.347_348+1delinsCTG
c.*1188_*1189+1delinsCTG
c.266_267+1delinsCTG
c.213_214+1delinsCTG
9g.127660108T>ACA374931842STXBP1c.283T>A (p.Ser95Thr)
c.325T>A (p.Ser109Thr)
c.348T>A (p.Thr116=)
c.*1189T>A (n.*1189T>A)
c.267T>A
c.214T>A (p.Ser72Thr)
c.325T>A (p.Tyr109Asn)
9g.127660108T>CCA374931843STXBP1c.283T>C (p.Ser95Pro)
c.325T>C (p.Ser109Pro)
c.348T>C (p.Thr116=)
c.*1189T>C (n.*1189T>C)
c.267T>C
c.214T>C (p.Ser72Pro)
c.325T>C (p.Tyr109His)
9g.127660108T>GCA374931844STXBP1c.283T>G (p.Ser95Ala)
c.325T>G (p.Ser109Ala)
c.348T>G (p.Thr116=)
c.*1189T>G (n.*1189T>G)
c.267T>G
c.214T>G (p.Ser72Ala)
c.325T>G (p.Tyr109Asp)
9g.127660110_127660111delCA658683551STXBP1c.283+2_283+3del
c.325+2_325+3del
c.348+2_348+3del
c.*1189+2_*1189+3del
c.267+2_267+3del
c.214+2_214+3del
 ClinVar dbSNP
9g.127660109G>ACA374931845STXBP1c.283+1G>A (n.283+1G>A)
c.325+1G>A (n.325+1G>A)
c.348+1G>A (n.348+1G>A)
c.*1189+1G>A (n.*1189+1G>A)
c.267+1G>A
c.214+1G>A (n.214+1G>A)
 ClinVar
9g.127660109G>CCA374931846STXBP1c.283+1G>C (n.283+1G>C)
c.325+1G>C (n.325+1G>C)
c.348+1G>C (n.348+1G>C)
c.*1189+1G>C (n.*1189+1G>C)
c.267+1G>C
c.214+1G>C (n.214+1G>C)
9g.127660109G>TCA374931847STXBP1c.283+1G>T (n.283+1G>T)
c.325+1G>T (n.325+1G>T)
c.348+1G>T (n.348+1G>T)
c.*1189+1G>T (n.*1189+1G>T)
c.267+1G>T
c.214+1G>T (n.214+1G>T)
9g.127660110T>ACA374931849STXBP1c.283+2T>A (n.283+2T>A)
c.325+2T>A (n.325+2T>A)
c.348+2T>A (n.348+2T>A)
c.*1189+2T>A (n.*1189+2T>A)
c.267+2T>A
c.214+2T>A (n.214+2T>A)
 ClinVar dbSNP
9g.127660110T>CCA374931850STXBP1c.283+2T>C (n.283+2T>C)
c.325+2T>C (n.325+2T>C)
c.348+2T>C (n.348+2T>C)
c.*1189+2T>C (n.*1189+2T>C)
c.267+2T>C
c.214+2T>C (n.214+2T>C)
9g.127660110T>GCA374931848STXBP1c.283+2T>G (n.283+2T>G)
c.325+2T>G (n.325+2T>G)
c.348+2T>G (n.348+2T>G)
c.*1189+2T>G (n.*1189+2T>G)
c.267+2T>G
c.214+2T>G (n.214+2T>G)
9g.127660110T=CA1879906023STXBP1c.283+2T= (n.283+2T=)
c.325+2T= (n.325+2T=)
c.348+2T= (n.348+2T=)
c.*1189+2T= (n.*1189+2T=)
c.267+2T=
c.214+2T= (n.214+2T=)
9g.127660111G>ACA2579458509STXBP1c.283+3G>A (n.283+3G>A)
c.325+3G>A (n.325+3G>A)
c.348+3G>A (n.348+3G>A)
c.*1189+3G>A (n.*1189+3G>A)
c.267+3G>A
c.214+3G>A (n.214+3G>A)
9g.127660112A>CCA2580079557STXBP1c.283+4A>C (n.283+4A>C)
c.325+4A>C (n.325+4A>C)
c.348+4A>C (n.348+4A>C)
c.*1189+4A>C (n.*1189+4A>C)
c.267+4A>C
c.214+4A>C (n.214+4A>C)
 ClinVar dbSNP
9g.127660112A>GCA2695211182STXBP1c.283+4A>G (n.283+4A>G)
c.325+4A>G (n.325+4A>G)
c.348+4A>G (n.348+4A>G)
c.*1189+4A>G (n.*1189+4A>G)
c.267+4A>G
c.214+4A>G (n.214+4A>G)
9g.127660112A>TCA2573144043STXBP1c.283+4A>T (n.283+4A>T)
c.325+4A>T (n.325+4A>T)
c.348+4A>T (n.348+4A>T)
c.*1189+4A>T (n.*1189+4A>T)
c.267+4A>T
c.214+4A>T (n.214+4A>T)
 ClinVar dbSNP
9g.127660113G>ACA2695211183STXBP1c.283+5G>A (n.283+5G>A)
c.325+5G>A (n.325+5G>A)
c.348+5G>A (n.348+5G>A)
c.*1189+5G>A (n.*1189+5G>A)
c.267+5G>A
c.214+5G>A (n.214+5G>A)
 ClinVar
9g.127660114T>CCA2695211184STXBP1c.283+6T>C (n.283+6T>C)
c.325+6T>C (n.325+6T>C)
c.348+6T>C (n.348+6T>C)
c.*1189+6T>C (n.*1189+6T>C)
c.267+6T>C
c.214+6T>C (n.214+6T>C)
9g.127660116C>ACA5248290STXBP1c.283+8C>A (n.283+8C>A)
c.325+8C>A (n.325+8C>A)
c.348+8C>A (n.348+8C>A)
c.*1189+8C>A (n.*1189+8C>A)
c.267+8C>A
c.214+8C>A (n.214+8C>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.127660116C=CA1879906032STXBP1c.283+8C= (n.283+8C=)
c.325+8C= (n.325+8C=)
c.348+8C= (n.348+8C=)
c.*1189+8C= (n.*1189+8C=)
c.267+8C=
c.214+8C= (n.214+8C=)
9g.127660116C>TCA285515STXBP1c.283+8C>T (n.283+8C>T)
c.325+8C>T (n.325+8C>T)
c.348+8C>T (n.348+8C>T)
c.*1189+8C>T (n.*1189+8C>T)
c.267+8C>T
c.214+8C>T (n.214+8C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.127660118A=CA1879906034STXBP1c.283+10A= (n.283+10A=)
c.325+10A= (n.325+10A=)
c.348+10A= (n.348+10A=)
c.*1189+10A= (n.*1189+10A=)
c.267+10A=
c.214+10A= (n.214+10A=)
9g.127660118A>GCA590592129STXBP1c.283+10A>G (n.283+10A>G)
c.325+10A>G (n.325+10A>G)
c.348+10A>G (n.348+10A>G)
c.*1189+10A>G (n.*1189+10A>G)
c.267+10A>G
c.214+10A>G (n.214+10A>G)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.127660118A>TCA2579458510STXBP1c.283+10A>T (n.283+10A>T)
c.325+10A>T (n.325+10A>T)
c.348+10A>T (n.348+10A>T)
c.*1189+10A>T (n.*1189+10A>T)
c.267+10A>T
c.214+10A>T (n.214+10A>T)
9g.127660120C=CA1879906038STXBP1c.283+12C= (n.283+12C=)
c.325+12C= (n.325+12C=)
c.348+12C= (n.348+12C=)
c.*1189+12C= (n.*1189+12C=)
c.267+12C=
c.214+12C= (n.214+12C=)
9g.127660120C>GCA590592130STXBP1c.283+12C>G (n.283+12C>G)
c.325+12C>G (n.325+12C>G)
c.348+12C>G (n.348+12C>G)
c.*1189+12C>G (n.*1189+12C>G)
c.267+12C>G
c.214+12C>G (n.214+12C>G)
 dbSNP gnomAD v2 gnomAD v4
9g.127660120C>TCA200262844STXBP1c.283+12C>T (n.283+12C>T)
c.325+12C>T (n.325+12C>T)
c.348+12C>T (n.348+12C>T)
c.*1189+12C>T (n.*1189+12C>T)
c.267+12C>T
c.214+12C>T (n.214+12C>T)
 dbSNP
9g.127660123G>ACA2691772267STXBP1c.283+15G>A (n.283+15G>A)
c.325+15G>A (n.325+15G>A)
c.348+15G>A (n.348+15G>A)
c.*1189+15G>A (n.*1189+15G>A)
c.267+15G>A
c.214+15G>A (n.214+15G>A)
 gnomAD v4
9g.127660130C>TCA2691772268STXBP1c.283+22C>T (n.283+22C>T)
c.325+22C>T (n.325+22C>T)
c.348+22C>T (n.348+22C>T)
c.*1189+22C>T (n.*1189+22C>T)
c.267+22C>T
c.214+22C>T (n.214+22C>T)
 gnomAD v4
9g.127660131C>TCA2579458511STXBP1c.283+23C>T (n.283+23C>T)
c.325+23C>T (n.325+23C>T)
c.348+23C>T (n.348+23C>T)
c.*1189+23C>T (n.*1189+23C>T)
c.267+23C>T
c.214+23C>T (n.214+23C>T)
 gnomAD v4
9g.127660132C>ACA5248291STXBP1c.283+24C>A (n.283+24C>A)
c.325+24C>A (n.325+24C>A)
c.348+24C>A (n.348+24C>A)
c.*1189+24C>A (n.*1189+24C>A)
c.267+24C>A
c.214+24C>A (n.214+24C>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.127660132C=CA1879906043STXBP1c.283+24C= (n.283+24C=)
c.325+24C= (n.325+24C=)
c.348+24C= (n.348+24C=)
c.*1189+24C= (n.*1189+24C=)
c.267+24C=
c.214+24C= (n.214+24C=)
9g.127660132C>GCA2691772269STXBP1c.283+24C>G (n.283+24C>G)
c.325+24C>G (n.325+24C>G)
c.348+24C>G (n.348+24C>G)
c.*1189+24C>G (n.*1189+24C>G)
c.267+24C>G
c.214+24C>G (n.214+24C>G)
 gnomAD v4
9g.127660133C=CA1879906047STXBP1c.283+25C= (n.283+25C=)
c.325+25C= (n.325+25C=)
c.348+25C= (n.348+25C=)
c.*1189+25C= (n.*1189+25C=)
c.267+25C=
c.214+25C= (n.214+25C=)
9g.127660133C>GCA1879906048STXBP1c.283+25C>G (n.283+25C>G)
c.325+25C>G (n.325+25C>G)
c.348+25C>G (n.348+25C>G)
c.*1189+25C>G (n.*1189+25C>G)
c.267+25C>G
c.214+25C>G (n.214+25C>G)
 dbSNP gnomAD v4
9g.127660133_127660134delinsCACA1879906049STXBP1c.283+25_283+26delinsCA (n.283+25_283+26delinsCA)
c.325+25_325+26delinsCA (n.325+25_325+26delinsCA)
c.348+25_348+26delinsCA (n.348+25_348+26delinsCA)
c.*1189+25_*1189+26delinsCA (n.*1189+25_*1189+26delinsCA)
c.267+25_267+26delinsCA
c.214+25_214+26delinsCA (n.214+25_214+26delinsCA)
9g.127660134delCA1879906050STXBP1c.283+26del (n.283+26del)
c.325+26del (n.325+26del)
c.348+26del (n.348+26del)
c.*1189+26del (n.*1189+26del)
c.267+26del
c.214+26del (n.214+26del)
 dbSNP gnomAD v4
9g.127660134A>CCA2691772270STXBP1c.283+26A>C (n.283+26A>C)
c.325+26A>C (n.325+26A>C)
c.348+26A>C (n.348+26A>C)
c.*1189+26A>C (n.*1189+26A>C)
c.267+26A>C
c.214+26A>C (n.214+26A>C)
 gnomAD v4
9g.127660136T>CCA2691772271STXBP1c.283+28T>C (n.283+28T>C)
c.325+28T>C (n.325+28T>C)
c.348+28T>C (n.348+28T>C)
c.*1189+28T>C (n.*1189+28T>C)
c.267+28T>C
c.214+28T>C (n.214+28T>C)
 gnomAD v4
9g.127660137C=CA1879906052STXBP1c.283+29C= (n.283+29C=)
c.325+29C= (n.325+29C=)
c.348+29C= (n.348+29C=)
c.*1189+29C= (n.*1189+29C=)
c.267+29C=
c.214+29C= (n.214+29C=)
9g.127660137C>TCA1879906053STXBP1c.283+29C>T (n.283+29C>T)
c.325+29C>T (n.325+29C>T)
c.348+29C>T (n.348+29C>T)
c.*1189+29C>T (n.*1189+29C>T)
c.267+29C>T
c.214+29C>T (n.214+29C>T)
 dbSNP gnomAD v4
9g.127660138C=CA1879906055STXBP1c.283+30C= (n.283+30C=)
c.325+30C= (n.325+30C=)
c.348+30C= (n.348+30C=)
c.*1189+30C= (n.*1189+30C=)
c.267+30C=
c.214+30C= (n.214+30C=)
9g.127660138C>TCA590592131STXBP1c.283+30C>T (n.283+30C>T)
c.325+30C>T (n.325+30C>T)
c.348+30C>T (n.348+30C>T)
c.*1189+30C>T (n.*1189+30C>T)
c.267+30C>T
c.214+30C>T (n.214+30C>T)
 dbSNP gnomAD v2 gnomAD v4
9g.127660139C>ACA2515957364STXBP1c.283+31C>A (n.283+31C>A)
c.325+31C>A (n.325+31C>A)
c.348+31C>A (n.348+31C>A)
c.*1189+31C>A (n.*1189+31C>A)
c.267+31C>A
c.214+31C>A (n.214+31C>A)
9g.127660139C=CA1879906058STXBP1c.283+31C= (n.283+31C=)
c.325+31C= (n.325+31C=)
c.348+31C= (n.348+31C=)
c.*1189+31C= (n.*1189+31C=)
c.267+31C=
c.214+31C= (n.214+31C=)
9g.127660139C>TCA5248292STXBP1c.283+31C>T (n.283+31C>T)
c.325+31C>T (n.325+31C>T)
c.348+31C>T (n.348+31C>T)
c.*1189+31C>T (n.*1189+31C>T)
c.267+31C>T
c.214+31C>T (n.214+31C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.127660140A=CA1879906060STXBP1c.283+32A= (n.283+32A=)
c.325+32A= (n.325+32A=)
c.348+32A= (n.348+32A=)
c.*1189+32A= (n.*1189+32A=)
c.267+32A=
c.214+32A= (n.214+32A=)
9g.127660140A>GCA5248293STXBP1c.283+32A>G (n.283+32A>G)
c.325+32A>G (n.325+32A>G)
c.348+32A>G (n.348+32A>G)
c.*1189+32A>G (n.*1189+32A>G)
c.267+32A>G
c.214+32A>G (n.214+32A>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.127660143A>GCA2691772272STXBP1c.283+35A>G (n.283+35A>G)
c.325+35A>G (n.325+35A>G)
c.348+35A>G (n.348+35A>G)
c.*1189+35A>G (n.*1189+35A>G)
c.267+35A>G
c.214+35A>G (n.214+35A>G)
 gnomAD v4
9g.127660144G>CCA2691772273STXBP1c.283+36G>C (n.283+36G>C)
c.325+36G>C (n.325+36G>C)
c.348+36G>C (n.348+36G>C)
c.*1189+36G>C (n.*1189+36G>C)
c.267+36G>C
c.214+36G>C (n.214+36G>C)
 gnomAD v4
9g.127660145G>ACA5248294STXBP1c.283+37G>A (n.283+37G>A)
c.325+37G>A (n.325+37G>A)
c.348+37G>A (n.348+37G>A)
c.*1189+37G>A (n.*1189+37G>A)
c.267+37G>A
c.214+37G>A (n.214+37G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.127660145G=CA1879906062STXBP1c.283+37G= (n.283+37G=)
c.325+37G= (n.325+37G=)
c.348+37G= (n.348+37G=)
c.*1189+37G= (n.*1189+37G=)
c.267+37G=
c.214+37G= (n.214+37G=)
9g.127660145G>TCA200262845STXBP1c.283+37G>T (n.283+37G>T)
c.325+37G>T (n.325+37G>T)
c.348+37G>T (n.348+37G>T)
c.*1189+37G>T (n.*1189+37G>T)
c.267+37G>T
c.214+37G>T (n.214+37G>T)
 dbSNP
9g.127660149G>ACA200262846STXBP1c.283+41G>A (n.283+41G>A)
c.325+41G>A (n.325+41G>A)
c.348+41G>A (n.348+41G>A)
c.*1189+41G>A (n.*1189+41G>A)
c.267+41G>A
c.214+41G>A (n.214+41G>A)
 dbSNP gnomAD v4
9g.127660149G=CA1879906066STXBP1c.283+41G= (n.283+41G=)
c.325+41G= (n.325+41G=)
c.348+41G= (n.348+41G=)
c.*1189+41G= (n.*1189+41G=)
c.267+41G=
c.214+41G= (n.214+41G=)
9g.127660149G>TCA2691772274STXBP1c.283+41G>T (n.283+41G>T)
c.325+41G>T (n.325+41G>T)
c.348+41G>T (n.348+41G>T)
c.*1189+41G>T (n.*1189+41G>T)
c.267+41G>T
c.214+41G>T (n.214+41G>T)
 gnomAD v4
9g.127660152A=CA1879906068STXBP1c.283+44A= (n.283+44A=)
c.325+44A= (n.325+44A=)
c.348+44A= (n.348+44A=)
c.*1189+44A= (n.*1189+44A=)
c.267+44A=
c.214+44A= (n.214+44A=)
9g.127660152A>CCA1129256042STXBP1c.283+44A>C (n.283+44A>C)
c.325+44A>C (n.325+44A>C)
c.348+44A>C (n.348+44A>C)
c.*1189+44A>C (n.*1189+44A>C)
c.267+44A>C
c.214+44A>C (n.214+44A>C)
 dbSNP gnomAD v3 gnomAD v4
9g.127660152A>GCA2579458512STXBP1c.283+44A>G (n.283+44A>G)
c.325+44A>G (n.325+44A>G)
c.348+44A>G (n.348+44A>G)
c.*1189+44A>G (n.*1189+44A>G)
c.267+44A>G
c.214+44A>G (n.214+44A>G)
9g.127660154C>GCA2691772275STXBP1c.283+46C>G (n.283+46C>G)
c.325+46C>G (n.325+46C>G)
c.348+46C>G (n.348+46C>G)
c.*1189+46C>G (n.*1189+46C>G)
c.267+46C>G
c.214+46C>G (n.214+46C>G)
 gnomAD v4

Number of alleles fetched