NM_145893.3(RBFOX1):c.32C>A (p.Pro11His)
|
rs145351963
|
0.00018
|
NM_018723.4(RBFOX1):c.979G>A (p.Ala327Thr)
|
rs139929599
|
0.00012
|
NM_018723.4(RBFOX1):c.52C>G (p.Pro18Ala)
|
rs149974858
|
0.00010
|
NM_018723.4(RBFOX1):c.643G>C (p.Val215Leu)
|
rs141994899
|
0.00009
|
NM_145893.3(RBFOX1):c.83T>C (p.Ile28Thr)
|
rs147525462
|
0.00009
|
NM_018723.4(RBFOX1):c.130C>T (p.Pro44Ser)
|
rs201490398
|
0.00004
|
NM_018723.4(RBFOX1):c.146C>T (p.Ala49Val)
|
rs767917479
|
0.00004
|
NM_018723.4(RBFOX1):c.151G>A (p.Glu51Lys)
|
rs778034989
|
0.00004
|
NM_018723.4(RBFOX1):c.239C>A (p.Thr80Lys)
|
rs371393737
|
0.00004
|
NM_018723.4(RBFOX1):c.871C>G (p.Pro291Ala)
|
rs768195911
|
0.00004
|
NM_018723.4(RBFOX1):c.886G>A (p.Gly296Ser)
|
rs759654438
|
0.00004
|
NM_018723.4(RBFOX1):c.955G>A (p.Ala319Thr)
|
rs199644500
|
0.00004
|
NM_145893.3(RBFOX1):c.62C>T (p.Ala21Val)
|
rs375723096
|
0.00004
|
NM_145893.3(RBFOX1):c.59C>T (p.Ala20Val)
|
rs201242998
|
0.00003
|
NM_145893.3(RBFOX1):c.64C>G (p.Pro22Ala)
|
rs760925781
|
0.00003
|
NM_018723.4(RBFOX1):c.888C>T (p.Gly296=)
|
rs921443679
|
0.00002
|
NM_145893.3(RBFOX1):c.84T>G (p.Ile28Met)
|
rs766344856
|
0.00002
|
NM_018723.4(RBFOX1):c.1132G>A (p.Val378Ile)
|
rs369122393
|
0.00001
|
NM_018723.4(RBFOX1):c.163C>G (p.Gln55Glu)
|
rs1567632409
|
0.00001
|
NM_018723.4(RBFOX1):c.191A>T (p.Asn64Ile)
|
rs753108920
|
0.00001
|
NM_018723.4(RBFOX1):c.200C>G (p.Pro67Arg)
|
rs1257361531
|
0.00001
|
NM_018723.4(RBFOX1):c.212C>A (p.Thr71Lys)
|
rs781081302
|
0.00001
|
NM_018723.4(RBFOX1):c.217T>G (p.Ser73Ala)
|
rs769785213
|
0.00001
|
NM_018723.4(RBFOX1):c.244G>A (p.Ala82Thr)
|
rs758714800
|
0.00001
|
NM_018723.4(RBFOX1):c.43G>A (p.Ala15Thr)
|
rs1013691536
|
0.00001
|
NM_018723.4(RBFOX1):c.46G>A (p.Ala16Thr)
|
rs779321097
|
0.00001
|
NM_018723.4(RBFOX1):c.500C>T (p.Ala167Val)
|
rs773528139
|
0.00001
|
NM_018723.4(RBFOX1):c.538G>A (p.Val180Met)
|
rs372761949
|
0.00001
|
NM_018723.4(RBFOX1):c.604G>A (p.Val202Ile)
|
rs774774269
|
0.00001
|
NM_018723.4(RBFOX1):c.611C>T (p.Pro204Leu)
|
rs1417087822
|
0.00001
|
NM_018723.4(RBFOX1):c.676+4C>T
|
rs370887797
|
0.00001
|
NM_018723.4(RBFOX1):c.676+6G>C
|
rs781701289
|
0.00001
|
NM_018723.4(RBFOX1):c.80C>T (p.Ser27Leu)
|
rs527782263
|
0.00001
|
NM_018723.4(RBFOX1):c.943G>A (p.Ala315Thr)
|
rs560607770
|
0.00001
|
NM_018723.4(RBFOX1):c.94C>G (p.Pro32Ala)
|
rs1567630819
|
0.00001
|
NM_018723.4(RBFOX1):c.98C>A (p.Pro33Gln)
|
rs750747492
|
0.00001
|
NM_145893.3(RBFOX1):c.35A>T (p.Tyr12Phe)
|
rs759616730
|
0.00001
|
NM_145893.3(RBFOX1):c.55C>T (p.Pro19Ser)
|
rs773668882
|
0.00001
|
NM_145893.3(RBFOX1):c.61G>T (p.Ala21Ser)
|
rs1325337150
|
0.00001
|
NM_145893.3(RBFOX1):c.74C>T (p.Pro25Leu)
|
rs998828744
|
0.00001
|
NM_145893.3(RBFOX1):c.977G>T (p.Gly326Val)
|
rs767345247
|
0.00001
|
NM_145893.3(RBFOX1):c.983A>G (p.Lys328Arg)
|
rs1287710352
|
0.00001
|
NC_000016.10:g.(?_7653795)_(7664988_?)del
|
|
|
NC_000016.9:g.(?_7102053)_(7760767_?)dup
|
|
|
NC_000016.9:g.(?_7382983)_(7647453_?)dup
|
|
|
NC_000016.9:g.(?_7383003)_(7568411_?)del
|
|
|
NC_000016.9:g.(?_7383003)_(7680705_?)del
|
|
|
NC_000016.9:g.(?_7383003)_(7680705_?)dup
|
|
|
NC_000016.9:g.(?_7383003)_(7703969_?)dup
|
|
|
NC_000016.9:g.(?_7383003)_(7760747_?)dup
|
|
|
NC_000016.9:g.(?_7568129)_(7760747_?)dup
|
|
|
NC_000016.9:g.(?_7629759)_(7637322_?)dup
|
|
|
NC_000016.9:g.(?_7629759)_(7760747_?)del
|
|
|
NC_000016.9:g.(?_7647353)_(7657360_?)del
|
|
|
NC_000016.9:g.(?_7726832)_(7839608_?)del
|
|
|
NM_018723.4(RBFOX1):c.103A>G (p.Asn35Asp)
|
|
|
NM_018723.4(RBFOX1):c.104A>G (p.Asn35Ser)
|
|
|
NM_018723.4(RBFOX1):c.104_105delinsCG (p.Asn35Thr)
|
|
|
NM_018723.4(RBFOX1):c.1072-2A>G
|
|
|
NM_018723.4(RBFOX1):c.1084C>T (p.Pro362Ser)
|
|
|
NM_018723.4(RBFOX1):c.1089G>C (p.Leu363Phe)
|
rs776822373
|
|
NM_018723.4(RBFOX1):c.109A>G (p.Ile37Val)
|
rs781321986
|
|
NM_018723.4(RBFOX1):c.1101G>C (p.Lys367Asn)
|
|
|
NM_018723.4(RBFOX1):c.1151C>A (p.Ala384Asp)
|
|
|
NM_018723.4(RBFOX1):c.1162C>T (p.Arg388Ter)
|
rs780406377
|
|
NM_018723.4(RBFOX1):c.1163G>A (p.Arg388Gln)
|
|
|
NM_018723.4(RBFOX1):c.124A>C (p.Thr42Pro)
|
|
|
NM_018723.4(RBFOX1):c.124A>G (p.Thr42Ala)
|
|
|
NM_018723.4(RBFOX1):c.125C>G (p.Thr42Arg)
|
rs146499343
|
|
NM_018723.4(RBFOX1):c.127G>T (p.Ala43Ser)
|
|
|
NM_018723.4(RBFOX1):c.137C>T (p.Pro46Leu)
|
rs113298071
|
|
NM_018723.4(RBFOX1):c.158C>G (p.Thr53Arg)
|
rs1600686165
|
|
NM_018723.4(RBFOX1):c.166A>G (p.Thr56Ala)
|
|
|
NM_018723.4(RBFOX1):c.182A>C (p.His61Pro)
|
rs1037124321
|
|
NM_018723.4(RBFOX1):c.185C>T (p.Thr62Ile)
|
|
|
NM_018723.4(RBFOX1):c.196T>C (p.Tyr66His)
|
rs1600687118
|
|
NM_018723.4(RBFOX1):c.199C>T (p.Pro67Ser)
|
rs143573994
|
|
NM_018723.4(RBFOX1):c.205G>A (p.Ala69Thr)
|
|
|
NM_018723.4(RBFOX1):c.206C>G (p.Ala69Gly)
|
|
|
NM_018723.4(RBFOX1):c.210G>T (p.Gln70His)
|
rs2076811567
|
|
NM_018723.4(RBFOX1):c.224A>C (p.Gln75Pro)
|
rs2152189230
|
|
NM_018723.4(RBFOX1):c.230C>T (p.Pro77Leu)
|
|
|
NM_018723.4(RBFOX1):c.232G>T (p.Ala78Ser)
|
|
|
NM_018723.4(RBFOX1):c.233C>G (p.Ala78Gly)
|
rs761205127
|
|
NM_018723.4(RBFOX1):c.235G>C (p.Asp79His)
|
rs764702003
|
|
NM_018723.4(RBFOX1):c.238A>G (p.Thr80Ala)
|
|
|
NM_018723.4(RBFOX1):c.245C>T (p.Ala82Val)
|
rs780839692
|
|
NM_018723.4(RBFOX1):c.257C>G (p.Ser86Cys)
|
rs2152190628
|
|
NM_018723.4(RBFOX1):c.257C>T (p.Ser86Phe)
|
|
|
NM_018723.4(RBFOX1):c.265G>A (p.Ala89Thr)
|
|
|
NM_018723.4(RBFOX1):c.270+5G>T
|
rs2076823058
|
|
NM_018723.4(RBFOX1):c.28-3C>T
|
rs2076775196
|
|
NM_018723.4(RBFOX1):c.30_37del (p.Asn11fs)
|
|
|
NM_018723.4(RBFOX1):c.424A>G (p.Lys142Glu)
|
|
|
NM_018723.4(RBFOX1):c.427A>G (p.Ile143Val)
|
|
|
NM_018723.4(RBFOX1):c.460G>C (p.Gly154Arg)
|
rs2094181320
|
|
NM_018723.4(RBFOX1):c.469G>A (p.Gly157Arg)
|
|
|
NM_018723.4(RBFOX1):c.47C>T (p.Ala16Val)
|
rs750798420
|
|
NM_018723.4(RBFOX1):c.481G>A (p.Val161Ile)
|
|
|
NM_018723.4(RBFOX1):c.490G>T (p.Glu164Ter)
|
rs2094642630
|
|
NM_018723.4(RBFOX1):c.499G>A (p.Ala167Thr)
|
rs2094642843
|
|
NM_018723.4(RBFOX1):c.522G>C (p.Glu174Asp)
|
rs760159651
|
|
NM_018723.4(RBFOX1):c.55G>A (p.Asp19Asn)
|
|
|
NM_018723.4(RBFOX1):c.584T>C (p.Val195Ala)
|
rs2152958287
|
|
NM_018723.4(RBFOX1):c.588G>C (p.Met196Ile)
|
|
|
NM_018723.4(RBFOX1):c.594_597del (p.Asn198fs)
|
rs2094760665
|
|
NM_018723.4(RBFOX1):c.597A>C (p.Lys199Asn)
|
rs2152958333
|
|
NM_018723.4(RBFOX1):c.610C>G (p.Pro204Ala)
|
rs1360100229
|
|
NM_018723.4(RBFOX1):c.613dup (p.Tyr205fs)
|
|
|
NM_018723.4(RBFOX1):c.622+3_622+4del
|
|
|
NM_018723.4(RBFOX1):c.622+4A>G
|
|
|
NM_018723.4(RBFOX1):c.622+5G>T
|
|
|
NM_018723.4(RBFOX1):c.629A>G (p.Lys210Arg)
|
rs2095316869
|
|
NM_018723.4(RBFOX1):c.640G>A (p.Val214Ile)
|
rs372085042
|
|
NM_018723.4(RBFOX1):c.676+1G>T
|
rs2141262938
|
|
NM_018723.4(RBFOX1):c.676+4_676+5del
|
|
|
NM_018723.4(RBFOX1):c.677-9C>G
|
|
|
NM_018723.4(RBFOX1):c.680C>T (p.Thr227Met)
|
rs145006582
|
|
NM_018723.4(RBFOX1):c.724A>G (p.Ser242Gly)
|
|
|
NM_018723.4(RBFOX1):c.728C>G (p.Ala243Gly)
|
|
|
NM_018723.4(RBFOX1):c.742G>C (p.Val248Leu)
|
rs757319815
|
|
NM_018723.4(RBFOX1):c.757+6C>A
|
rs1435955739
|
|
NM_018723.4(RBFOX1):c.770C>G (p.Pro257Arg)
|
|
|
NM_018723.4(RBFOX1):c.787G>A (p.Ala263Thr)
|
|
|
NM_018723.4(RBFOX1):c.790G>A (p.Ala264Thr)
|
|
|
NM_018723.4(RBFOX1):c.823C>T (p.Arg275Cys)
|
|
|
NM_018723.4(RBFOX1):c.828_859del (p.Arg277fs)
|
rs2144810454
|
|
NM_018723.4(RBFOX1):c.829C>T (p.Arg277Cys)
|
rs1189994954
|
|
NM_018723.4(RBFOX1):c.833C>T (p.Thr278Ile)
|
rs2065679298
|
|
NM_018723.4(RBFOX1):c.835G>A (p.Val279Met)
|
|
|
NM_018723.4(RBFOX1):c.839A>G (p.Tyr280Cys)
|
rs2144812486
|
|
NM_018723.4(RBFOX1):c.853G>A (p.Ala285Thr)
|
rs544967209
|
|
NM_018723.4(RBFOX1):c.853G>T (p.Ala285Ser)
|
|
|
NM_018723.4(RBFOX1):c.866C>T (p.Pro289Leu)
|
|
|
NM_018723.4(RBFOX1):c.871C>T (p.Pro291Ser)
|
rs768195911
|
|
NM_018723.4(RBFOX1):c.872C>T (p.Pro291Leu)
|
|
|
NM_018723.4(RBFOX1):c.876C>G (p.Ile292Met)
|
rs997305923
|
|
NM_018723.4(RBFOX1):c.878C>A (p.Pro293Gln)
|
rs1157311700
|
|
NM_018723.4(RBFOX1):c.92C>A (p.Ala31Asp)
|
rs761469568
|
|
NM_018723.4(RBFOX1):c.931-20_931-19inv
|
|
|
NM_018723.4(RBFOX1):c.931-3T>C
|
rs1597853857
|
|
NM_018723.4(RBFOX1):c.931-5170G>A
|
rs763604762
|
|
NM_018723.4(RBFOX1):c.931-5226T>A
|
rs768777551
|
|
NM_018723.4(RBFOX1):c.934G>T (p.Gly312Cys)
|
rs2073403458
|
|
NM_018723.4(RBFOX1):c.940G>A (p.Ala314Thr)
|
|
|
NM_018723.4(RBFOX1):c.944C>T (p.Ala315Val)
|
|
|
NM_018723.4(RBFOX1):c.948C>G (p.Tyr316Ter)
|
|
|
NM_018723.4(RBFOX1):c.949C>T (p.Arg317Cys)
|
rs2146426013
|
|
NM_018723.4(RBFOX1):c.954C>G (p.Tyr318Ter)
|
|
|
NM_018723.4(RBFOX1):c.955G>T (p.Ala319Ser)
|
rs199644500
|
|
NM_018723.4(RBFOX1):c.964_969del (p.Thr322_Pro323del)
|
rs2146427156
|
|
NM_018723.4(RBFOX1):c.973A>G (p.Thr325Ala)
|
|
|
NM_018723.4(RBFOX1):c.979_984del (p.Ala327_Ala328del)
|
rs974157467
|
|
NM_018723.4(RBFOX1):c.988A>G (p.Ser330Gly)
|
|
|
NM_018723.4(RBFOX1):c.995+2T>A
|
rs1597855236
|
|
NM_145893.3(RBFOX1):c.22C>G (p.Leu8Val)
|
rs1389613810
|
|
NM_145893.3(RBFOX1):c.35A>G (p.Tyr12Cys)
|
|
|
NM_145893.3(RBFOX1):c.38G>T (p.Gly13Val)
|
|
|
NM_145893.3(RBFOX1):c.46A>G (p.Met16Val)
|
rs779418628
|
|
NM_145893.3(RBFOX1):c.4C>G (p.Leu2Val)
|
rs1196867548
|
|
NM_145893.3(RBFOX1):c.56C>G (p.Pro19Arg)
|
rs376061440
|
|
NM_145893.3(RBFOX1):c.56C>T (p.Pro19Leu)
|
rs376061440
|
|
NM_145893.3(RBFOX1):c.68A>G (p.Tyr23Cys)
|
rs1603623680
|
|
NM_145893.3(RBFOX1):c.69C>A (p.Tyr23Ter)
|
rs1378405539
|
|
NM_145893.3(RBFOX1):c.70C>G (p.Leu24Val)
|
rs765010942
|
|
NM_145893.3(RBFOX1):c.76G>A (p.Gly26Arg)
|
|
|
NM_145893.3(RBFOX1):c.76G>T (p.Gly26Ter)
|
rs1180011308
|
|
NM_145893.3(RBFOX1):c.85C>T (p.Gln29Ter)
|
rs754561652
|
|
NM_145893.3(RBFOX1):c.86A>G (p.Gln29Arg)
|
|
|
NM_145893.3(RBFOX1):c.87+2T>C
|
rs1240585365
|
|
NM_145893.3(RBFOX1):c.953_962del (p.Val318fs)
|
|
|
NM_145893.3(RBFOX1):c.970G>C (p.Val324Leu)
|
|
|
NM_145893.3(RBFOX1):c.989T>G (p.Leu330Arg)
|
|
|
NM_145893.3(RBFOX1):c.993+1G>A
|
rs760593868
|
|