NM_000709.4(BCKDHA):c.853+61T>C
|
rs284651
|
0.66684
|
NM_000709.4(BCKDHA):c.1221A>G (p.Leu407=)
|
rs4674
|
0.66668
|
NM_000709.4(BCKDHA):c.972C>T (p.Phe324=)
|
rs284652
|
0.66509
|
NM_000709.4(BCKDHA):c.995+90C>T
|
rs284655
|
0.66401
|
NM_000709.4(BCKDHA):c.995+49G>A
|
rs284654
|
0.63462
|
NM_000709.4(BCKDHA):c.376-10A>C
|
rs3213861
|
0.59120
|
NM_000709.4(BCKDHA):c.995+26C>T
|
rs284653
|
0.37723
|
NM_000709.3(BCKDHA):c.-34T>G
|
rs45500792
|
0.09943
|
NM_000709.4(BCKDHA):c.116C>A (p.Pro39His)
|
rs11549936
|
0.07892
|
NM_000709.4(BCKDHA):c.1260C>T (p.Leu420=)
|
rs34492894
|
0.02893
|
NM_000709.4(BCKDHA):c.996-6G>A
|
rs74586298
|
0.02713
|
NM_000709.4(BCKDHA):c.*309A>G
|
rs10421626
|
0.02605
|
NM_000709.4(BCKDHA):c.639C>T (p.Ile213=)
|
rs10404506
|
0.01970
|
NM_000709.4(BCKDHA):c.34C>A (p.Arg12=)
|
rs34541442
|
0.00893
|
NM_000709.4(BCKDHA):c.*125C>T
|
rs140867211
|
0.00851
|
NM_000709.4(BCKDHA):c.452C>T (p.Thr151Met)
|
rs34442879
|
0.00790
|
NM_000709.4(BCKDHA):c.995+9C>T
|
rs13343330
|
0.00750
|
NM_000709.4(BCKDHA):c.975C>T (p.Leu325=)
|
rs55940366
|
0.00365
|
NM_000709.4(BCKDHA):c.484+5G>A
|
rs149899007
|
0.00298
|
NM_000709.4(BCKDHA):c.996-18C>T
|
rs201511678
|
0.00271
|
NM_000709.4(BCKDHA):c.485-28G>A
|
rs114178789
|
0.00186
|
NM_000709.4(BCKDHA):c.*334C>T
|
rs528816040
|
0.00133
|
NM_000709.4(BCKDHA):c.15C>T (p.Ile5=)
|
rs17173144
|
0.00103
|
NM_000709.4(BCKDHA):c.840C>T (p.Arg280=)
|
rs61737367
|
0.00101
|
NM_000709.4(BCKDHA):c.708C>T (p.Phe236=)
|
rs146932786
|
0.00092
|
NM_000709.4(BCKDHA):c.376-4C>T
|
rs199725420
|
0.00084
|
NM_000709.4(BCKDHA):c.1191C>T (p.Ala397=)
|
rs374403946
|
0.00062
|
NM_000709.4(BCKDHA):c.*244C>T
|
rs749083860
|
0.00061
|
NM_000709.4(BCKDHA):c.289-5C>T
|
rs200646708
|
0.00053
|
NM_000709.4(BCKDHA):c.1081A>G (p.Ile361Val)
|
rs61736656
|
0.00052
|
NM_000709.4(BCKDHA):c.288C>T (p.His96=)
|
rs148571328
|
0.00043
|
NM_000709.4(BCKDHA):c.*20C>A
|
rs370480422
|
0.00039
|
NM_000709.4(BCKDHA):c.63C>T (p.Ala21=)
|
rs140322984
|
0.00038
|
NM_000709.4(BCKDHA):c.646+13G>A
|
rs201333801
|
0.00038
|
NM_000709.4(BCKDHA):c.664G>A (p.Ala222Thr)
|
rs141086188
|
0.00036
|
NM_000709.4(BCKDHA):c.294G>A (p.Pro98=)
|
rs142967869
|
0.00029
|
NM_000709.3(BCKDHA):c.-25G>C
|
rs202084220
|
0.00028
|
NM_000709.4(BCKDHA):c.117C>A (p.Pro39=)
|
rs80014754
|
0.00028
|
NM_000709.4(BCKDHA):c.375+4C>T
|
rs377496852
|
0.00025
|
NM_000709.4(BCKDHA):c.744C>T (p.Ala248=)
|
rs137960127
|
0.00024
|
NM_000709.4(BCKDHA):c.1251C>T (p.Pro417=)
|
rs147021347
|
0.00021
|
NM_000709.4(BCKDHA):c.125A>G (p.Gln42Arg)
|
rs150177278
|
0.00021
|
NM_000709.4(BCKDHA):c.336T>G (p.Leu112=)
|
rs150700696
|
0.00020
|
NM_000709.4(BCKDHA):c.*314A>G
|
rs535136507
|
0.00019
|
NM_000709.4(BCKDHA):c.843C>T (p.Gly281=)
|
rs371343548
|
0.00019
|
NM_000709.4(BCKDHA):c.1211A>G (p.Asn404Ser)
|
rs148090804
|
0.00016
|
NM_000709.4(BCKDHA):c.213C>T (p.Asn71=)
|
rs138025447
|
0.00016
|
NM_000709.4(BCKDHA):c.420G>A (p.Thr140=)
|
rs143608852
|
0.00016
|
NM_000709.4(BCKDHA):c.924C>T (p.Asn308=)
|
rs139390622
|
0.00015
|
NM_000709.4(BCKDHA):c.*134C>T
|
rs150173947
|
0.00014
|
NM_000709.4(BCKDHA):c.1195C>T (p.Arg399Trp)
|
rs760281271
|
0.00014
|
NM_000709.4(BCKDHA):c.995+19G>A
|
rs373076000
|
0.00014
|
NM_000709.4(BCKDHA):c.1312T>A (p.Tyr438Asn)
|
rs137852870
|
0.00013
|
NM_000709.4(BCKDHA):c.663C>T (p.Tyr221=)
|
rs151227241
|
0.00013
|
NM_000709.4(BCKDHA):c.1041G>A (p.Ser347=)
|
rs144276456
|
0.00011
|
NM_000709.4(BCKDHA):c.448A>G (p.Asn150Asp)
|
rs140612545
|
0.00011
|
NM_000709.4(BCKDHA):c.159G>C (p.Gln53His)
|
rs775471043
|
0.00010
|
NM_000709.4(BCKDHA):c.1233C>T (p.Asp411=)
|
rs200363605
|
0.00009
|
NM_000709.4(BCKDHA):c.1252G>A (p.Ala418Thr)
|
rs368567109
|
0.00009
|
NM_000709.4(BCKDHA):c.853G>C (p.Ala285Pro)
|
rs398123508
|
0.00009
|
NM_000709.4(BCKDHA):c.943C>T (p.Arg315Trp)
|
rs373336888
|
0.00009
|
NM_000709.4(BCKDHA):c.1329C>T (p.Phe443=)
|
rs148224513
|
0.00008
|
NM_000709.4(BCKDHA):c.176C>T (p.Ala59Val)
|
rs138373035
|
0.00008
|
NM_000709.4(BCKDHA):c.*384C>T
|
rs535473868
|
0.00007
|
NM_000709.4(BCKDHA):c.1167+14G>A
|
rs775372632
|
0.00007
|
NM_000709.4(BCKDHA):c.288+10G>A
|
rs376894084
|
0.00007
|
NM_000709.4(BCKDHA):c.517C>T (p.Leu173=)
|
rs747591833
|
0.00007
|
NM_000709.4(BCKDHA):c.1032G>A (p.Ala344=)
|
rs376446100
|
0.00006
|
NM_000709.4(BCKDHA):c.1167+4A>C
|
rs546655391
|
0.00006
|
NM_000709.4(BCKDHA):c.606C>T (p.Phe202=)
|
rs370068964
|
0.00006
|
NM_000709.4(BCKDHA):c.978C>T (p.Ile326=)
|
rs398123514
|
0.00006
|
NM_000709.4(BCKDHA):c.*126G>A
|
rs748757436
|
0.00005
|
NM_000709.4(BCKDHA):c.1020C>T (p.Asp340=)
|
rs548045051
|
0.00005
|
NM_000709.4(BCKDHA):c.1093C>T (p.Arg365Trp)
|
rs1218567341
|
0.00005
|
NM_000709.4(BCKDHA):c.1277C>T (p.Ser426Phe)
|
rs557058340
|
0.00005
|
NM_000709.4(BCKDHA):c.174G>A (p.Ser58=)
|
rs576803251
|
0.00005
|
NM_000709.4(BCKDHA):c.*213G>A
|
rs766667517
|
0.00004
|
NM_000709.4(BCKDHA):c.*68G>A
|
rs375492462
|
0.00004
|
NM_000709.4(BCKDHA):c.1080C>T (p.Pro360=)
|
rs373390136
|
0.00004
|
NM_000709.4(BCKDHA):c.1192G>A (p.Glu398Lys)
|
rs201168715
|
0.00004
|
NM_000709.4(BCKDHA):c.349C>T (p.Arg117Cys)
|
rs188135164
|
0.00004
|
NM_000709.4(BCKDHA):c.351C>T (p.Arg117=)
|
rs573976272
|
0.00004
|
NM_000709.4(BCKDHA):c.436G>A (p.Ala146Thr)
|
rs373078413
|
0.00004
|
NM_000709.4(BCKDHA):c.607G>A (p.Val203Ile)
|
rs988176395
|
0.00004
|
NM_000709.4(BCKDHA):c.921C>T (p.Tyr307=)
|
rs758972542
|
0.00004
|
NM_000709.4(BCKDHA):c.996-26A>G
|
rs757986569
|
0.00004
|
NM_000709.4(BCKDHA):c.1070A>G (p.Gln357Arg)
|
rs185688419
|
0.00003
|
NM_000709.4(BCKDHA):c.108+12G>A
|
rs780834493
|
0.00003
|
NM_000709.4(BCKDHA):c.137C>A (p.Ser46Ter)
|
rs376456598
|
0.00003
|
NM_000709.4(BCKDHA):c.288+9C>T
|
rs398123497
|
0.00003
|
NM_000709.4(BCKDHA):c.293C>T (p.Pro98Leu)
|
rs532803527
|
0.00003
|
NM_000709.4(BCKDHA):c.330A>T (p.Thr110=)
|
rs201366184
|
0.00003
|
NM_000709.4(BCKDHA):c.370C>T (p.Arg124Trp)
|
rs398123499
|
0.00003
|
NM_000709.4(BCKDHA):c.438C>T (p.Ala146=)
|
rs200947033
|
0.00003
|
NM_000709.4(BCKDHA):c.500G>A (p.Arg167Gln)
|
rs377517768
|
0.00003
|
NM_000709.4(BCKDHA):c.633G>A (p.Thr211=)
|
rs750729027
|
0.00003
|
NM_000709.4(BCKDHA):c.647-16C>T
|
rs760230287
|
0.00003
|
NM_000709.4(BCKDHA):c.726T>C (p.Ser242=)
|
rs750023394
|
0.00003
|
NM_000709.4(BCKDHA):c.807C>T (p.Tyr269=)
|
rs775754845
|
0.00003
|
NM_000709.4(BCKDHA):c.819G>T (p.Thr273=)
|
rs201991385
|
0.00003
|
NM_000709.4(BCKDHA):c.867C>T (p.Pro289=)
|
rs779043936
|
0.00003
|
NM_000709.4(BCKDHA):c.890G>A (p.Arg297His)
|
rs200137189
|
0.00003
|
NM_000709.4(BCKDHA):c.891C>T (p.Arg297=)
|
rs187669174
|
0.00003
|
NM_000709.4(BCKDHA):c.910T>C (p.Phe304Leu)
|
rs398123511
|
0.00003
|
NM_000709.4(BCKDHA):c.946C>T (p.Arg316Trp)
|
rs758442329
|
0.00003
|
NM_000709.4(BCKDHA):c.976A>G (p.Ile326Val)
|
rs781688443
|
0.00003
|
NM_000709.4(BCKDHA):c.999C>T (p.Ile333=)
|
rs374450070
|
0.00003
|
NM_000709.4(BCKDHA):c.1087C>T (p.Arg363Trp)
|
rs942815730
|
0.00002
|
NM_000709.4(BCKDHA):c.1100A>C (p.Tyr367Ser)
|
rs777794357
|
0.00002
|
NM_000709.4(BCKDHA):c.126G>A (p.Gln42=)
|
rs770845165
|
0.00002
|
NM_000709.4(BCKDHA):c.1286G>A (p.Arg429His)
|
rs143065803
|
0.00002
|
NM_000709.4(BCKDHA):c.1302C>T (p.Tyr434=)
|
rs398123491
|
0.00002
|
NM_000709.4(BCKDHA):c.1320G>A (p.Leu440=)
|
rs771396248
|
0.00002
|
NM_000709.4(BCKDHA):c.261G>T (p.Gln87His)
|
rs751862507
|
0.00002
|
NM_000709.4(BCKDHA):c.288+1G>A
|
rs398123496
|
0.00002
|
NM_000709.4(BCKDHA):c.339C>T (p.Asn113=)
|
rs747299996
|
0.00002
|
NM_000709.4(BCKDHA):c.508C>T (p.Pro170Ser)
|
rs34956071
|
0.00002
|
NM_000709.4(BCKDHA):c.528C>A (p.Ala176=)
|
rs755611354
|
0.00002
|
NM_000709.4(BCKDHA):c.565C>T (p.Arg189Cys)
|
rs886042356
|
0.00002
|
NM_000709.4(BCKDHA):c.585C>T (p.Tyr195=)
|
rs575806482
|
0.00002
|
NM_000709.4(BCKDHA):c.659C>T (p.Ala220Val)
|
rs375785084
|
0.00002
|
NM_000709.4(BCKDHA):c.798C>T (p.Asn266=)
|
rs772457864
|
0.00002
|
NM_000709.4(BCKDHA):c.889C>T (p.Arg297Cys)
|
rs145901144
|
0.00002
|
NM_000709.4(BCKDHA):c.915C>T (p.Ala305=)
|
rs748919780
|
0.00002
|
NM_000709.4(BCKDHA):c.927C>T (p.Ala309=)
|
rs763842430
|
0.00002
|
NM_000709.4(BCKDHA):c.947G>A (p.Arg316Gln)
|
rs972403437
|
0.00002
|
NM_000709.4(BCKDHA):c.996-10C>T
|
rs748005370
|
0.00002
|
NM_000709.4(BCKDHA):c.*17C>T
|
rs372125840
|
0.00001
|
NM_000709.4(BCKDHA):c.*324G>A
|
rs564517344
|
0.00001
|
NM_000709.4(BCKDHA):c.*335G>A
|
rs886054463
|
0.00001
|
NM_000709.4(BCKDHA):c.1036C>T (p.Arg346Cys)
|
rs182923857
|
0.00001
|
NM_000709.4(BCKDHA):c.1037G>A (p.Arg346His)
|
rs398123486
|
0.00001
|
NM_000709.4(BCKDHA):c.1038C>T (p.Arg346=)
|
rs1469254740
|
0.00001
|
NM_000709.4(BCKDHA):c.1053C>T (p.Val351=)
|
rs1480623363
|
0.00001
|
NM_000709.4(BCKDHA):c.1055A>G (p.Asn352Ser)
|
rs766755823
|
0.00001
|
NM_000709.4(BCKDHA):c.1061G>A (p.Trp354Ter)
|
rs1214763792
|
0.00001
|
NM_000709.4(BCKDHA):c.1069C>T (p.Gln357Ter)
|
rs762199542
|
0.00001
|
NM_000709.4(BCKDHA):c.1094G>A (p.Arg365Gln)
|
rs375957868
|
0.00001
|
NM_000709.4(BCKDHA):c.1104G>T (p.Leu368=)
|
rs749040007
|
0.00001
|
NM_000709.4(BCKDHA):c.1137G>A (p.Glu379=)
|
rs935233075
|
0.00001
|
NM_000709.4(BCKDHA):c.1149G>A (p.Arg383=)
|
rs190202447
|
0.00001
|
NM_000709.4(BCKDHA):c.1158C>T (p.Ser386=)
|
rs1301881882
|
0.00001
|
NM_000709.4(BCKDHA):c.1160G>A (p.Arg387His)
|
rs1052314774
|
0.00001
|
NM_000709.4(BCKDHA):c.1167+9G>T
|
rs1365135243
|
0.00001
|
NM_000709.4(BCKDHA):c.1168-5C>T
|
rs1196167996
|
0.00001
|
NM_000709.4(BCKDHA):c.1176G>A (p.Glu392=)
|
rs767493580
|
0.00001
|
NM_000709.4(BCKDHA):c.1224C>T (p.Leu408=)
|
rs368383404
|
0.00001
|
NM_000709.4(BCKDHA):c.1234G>A (p.Val412Met)
|
rs398123490
|
0.00001
|
NM_000709.4(BCKDHA):c.1257G>A (p.Gln419=)
|
rs1234860232
|
0.00001
|
NM_000709.4(BCKDHA):c.1262G>A (p.Arg421His)
|
rs535975575
|
0.00001
|
NM_000709.4(BCKDHA):c.127C>T (p.Gln43Ter)
|
rs374625613
|
0.00001
|
NM_000709.4(BCKDHA):c.129G>A (p.Gln43=)
|
rs1355693373
|
0.00001
|
NM_000709.4(BCKDHA):c.130C>T (p.Gln44Ter)
|
rs1220443382
|
0.00001
|
NM_000709.4(BCKDHA):c.1317A>G (p.Pro439=)
|
rs749795206
|
0.00001
|
NM_000709.4(BCKDHA):c.177G>A (p.Ala59=)
|
rs750926317
|
0.00001
|
NM_000709.4(BCKDHA):c.192G>A (p.Lys64=)
|
rs755750415
|
0.00001
|
NM_000709.4(BCKDHA):c.240C>T (p.Arg80=)
|
rs143167070
|
0.00001
|
NM_000709.4(BCKDHA):c.249C>T (p.Asp83=)
|
rs398123495
|
0.00001
|
NM_000709.4(BCKDHA):c.277G>A (p.Glu93Lys)
|
rs753452195
|
0.00001
|
NM_000709.4(BCKDHA):c.27G>A (p.Arg9=)
|
rs545537409
|
0.00001
|
NM_000709.4(BCKDHA):c.288+7G>A
|
rs780156666
|
0.00001
|
NM_000709.4(BCKDHA):c.359A>G (p.Tyr120Cys)
|
rs764284154
|
0.00001
|
NM_000709.4(BCKDHA):c.371G>A (p.Arg124Gln)
|
rs752700457
|
0.00001
|
NM_000709.4(BCKDHA):c.375+10G>A
|
rs933606851
|
0.00001
|
NM_000709.4(BCKDHA):c.402C>T (p.Asn134=)
|
rs201638798
|
0.00001
|
NM_000709.4(BCKDHA):c.424G>A (p.Val142Met)
|
rs750226738
|
0.00001
|
NM_000709.4(BCKDHA):c.435C>T (p.Ala145=)
|
rs369278165
|
0.00001
|
NM_000709.4(BCKDHA):c.449A>G (p.Asn150Ser)
|
rs2039284627
|
0.00001
|
NM_000709.4(BCKDHA):c.475C>T (p.Arg159Trp)
|
rs769688327
|
0.00001
|
NM_000709.4(BCKDHA):c.476G>A (p.Arg159Gln)
|
rs773048903
|
0.00001
|
NM_000709.4(BCKDHA):c.47G>A (p.Gly16Asp)
|
rs766174938
|
0.00001
|
NM_000709.4(BCKDHA):c.492G>C (p.Leu164=)
|
rs764618560
|
0.00001
|
NM_000709.4(BCKDHA):c.497A>T (p.Tyr166Phe)
|
rs2039337230
|
0.00001
|
NM_000709.4(BCKDHA):c.499C>T (p.Arg167Trp)
|
rs398123502
|
0.00001
|
NM_000709.4(BCKDHA):c.504C>T (p.Asp168=)
|
rs750857655
|
0.00001
|
NM_000709.4(BCKDHA):c.510C>G (p.Pro170=)
|
rs1163026059
|
0.00001
|
NM_000709.4(BCKDHA):c.59C>T (p.Ala20Val)
|
rs1159645644
|
0.00001
|
NM_000709.4(BCKDHA):c.615C>T (p.Ile205=)
|
rs768600012
|
0.00001
|
NM_000709.4(BCKDHA):c.618C>T (p.Ser206=)
|
rs144995574
|
0.00001
|
NM_000709.4(BCKDHA):c.632C>T (p.Thr211Met)
|
rs398123503
|
0.00001
|
NM_000709.4(BCKDHA):c.646+12T>C
|
rs777143993
|
0.00001
|
NM_000709.4(BCKDHA):c.647-1G>C
|
rs753216964
|
0.00001
|
NM_000709.4(BCKDHA):c.647-8C>T
|
rs763820194
|
0.00001
|
NM_000709.4(BCKDHA):c.647C>T (p.Ala216Val)
|
rs369448982
|
0.00001
|
NM_000709.4(BCKDHA):c.656C>T (p.Ala219Val)
|
rs532361185
|
0.00001
|
NM_000709.4(BCKDHA):c.657G>A (p.Ala219=)
|
rs770514966
|
0.00001
|
NM_000709.4(BCKDHA):c.660G>A (p.Ala220=)
|
rs547571406
|
0.00001
|
NM_000709.4(BCKDHA):c.681T>C (p.Asn227=)
|
rs1015416257
|
0.00001
|
NM_000709.4(BCKDHA):c.684C>T (p.Ala228=)
|
rs771485726
|
0.00001
|
NM_000709.4(BCKDHA):c.693C>T (p.Val231=)
|
rs763610087
|
0.00001
|
NM_000709.4(BCKDHA):c.699C>A (p.Ile233=)
|
rs1367109275
|
0.00001
|
NM_000709.4(BCKDHA):c.729G>A (p.Glu243=)
|
rs373175569
|
0.00001
|
NM_000709.4(BCKDHA):c.732G>A (p.Gly244=)
|
rs1192566664
|
0.00001
|
NM_000709.4(BCKDHA):c.735C>T (p.Asp245=)
|
rs766357034
|
0.00001
|
NM_000709.4(BCKDHA):c.736G>A (p.Ala246Thr)
|
rs536540966
|
0.00001
|
NM_000709.4(BCKDHA):c.73C>T (p.Leu25=)
|
rs778388437
|
0.00001
|
NM_000709.4(BCKDHA):c.745G>A (p.Gly249Ser)
|
rs137852874
|
0.00001
|
NM_000709.4(BCKDHA):c.756C>T (p.Phe252=)
|
rs756393197
|
0.00001
|
NM_000709.4(BCKDHA):c.757G>A (p.Ala253Thr)
|
rs199599175
|
0.00001
|
NM_000709.4(BCKDHA):c.758C>G (p.Ala253Gly)
|
rs1213596075
|
0.00001
|
NM_000709.4(BCKDHA):c.787T>C (p.Phe263Leu)
|
rs771360993
|
0.00001
|
NM_000709.4(BCKDHA):c.793C>T (p.Arg265Trp)
|
rs137852873
|
0.00001
|
NM_000709.4(BCKDHA):c.808G>A (p.Ala270Thr)
|
rs765045050
|
0.00001
|
NM_000709.4(BCKDHA):c.854-2A>G
|
rs760494152
|
0.00001
|
NM_000709.4(BCKDHA):c.860G>A (p.Arg287Gln)
|
rs757457825
|
0.00001
|
NM_000709.4(BCKDHA):c.868G>A (p.Gly290Arg)
|
rs137852871
|
0.00001
|
NM_000709.4(BCKDHA):c.882G>A (p.Met294Ile)
|
rs1568508232
|
0.00001
|
NM_000709.4(BCKDHA):c.884C>A (p.Ser295Ter)
|
rs1318419473
|
0.00001
|
NM_000709.4(BCKDHA):c.919T>C (p.Tyr307His)
|
rs138261404
|
0.00001
|
NM_000709.4(BCKDHA):c.925G>A (p.Ala309Thr)
|
rs760651615
|
0.00001
|
NM_000709.4(BCKDHA):c.929C>G (p.Thr310Arg)
|
rs137852875
|
0.00001
|
NM_000709.4(BCKDHA):c.940C>T (p.Arg314Ter)
|
rs753698250
|
0.00001
|
NM_000709.4(BCKDHA):c.944G>A (p.Arg315Gln)
|
rs201109190
|
0.00001
|
NM_000709.4(BCKDHA):c.979G>A (p.Glu327Lys)
|
rs398123515
|
0.00001
|
NM_000709.4(BCKDHA):c.995+10G>A
|
rs778460909
|
0.00001
|
NC_000019.10:g.(?_41397818)_(41414167_?)del
|
|
|
NC_000019.10:g.(?_41424428)_(41424831_?)del
|
|
|
NC_000019.9:g.(?_41903723)_(41903850_?)del
|
|
|
NC_000019.9:g.(?_41903723)_(41916924_?)del
|
|
|
NC_000019.9:g.(?_41903723)_(41930736_?)del
|
|
|
NC_000019.9:g.(?_41916532)_(41920072_?)del
|
|
|
NC_000019.9:g.(?_41925030)_(41925211_?)del
|
|
|
NC_000019.9:g.(?_41925030)_(41930736_?)del
|
|
|
NM_000709.3(BCKDHA):c.111_122del12
|
rs751877248
|
|
NM_000709.4(BCKDHA):c.*223T>A
|
rs373164531
|
|
NM_000709.4(BCKDHA):c.*301G>A
|
rs2039411821
|
|
NM_000709.4(BCKDHA):c.*365A>G
|
rs886054464
|
|
NM_000709.4(BCKDHA):c.1008_1015del (p.His336fs)
|
rs1330793674
|
|
NM_000709.4(BCKDHA):c.1011C>G (p.Ser337Arg)
|
rs1417360930
|
|
NM_000709.4(BCKDHA):c.1028C>G (p.Ser343Ter)
|
rs774735002
|
|
NM_000709.4(BCKDHA):c.1031C>T (p.Ala344Val)
|
|
|
NM_000709.4(BCKDHA):c.1032G>T (p.Ala344=)
|
rs376446100
|
|
NM_000709.4(BCKDHA):c.1041G>T (p.Ser347=)
|
|
|
NM_000709.4(BCKDHA):c.1059C>T (p.Tyr353=)
|
rs2122146414
|
|
NM_000709.4(BCKDHA):c.1073A>G (p.Asp358Gly)
|
|
|
NM_000709.4(BCKDHA):c.1074C>A (p.Asp358Glu)
|
rs2122146497
|
|
NM_000709.4(BCKDHA):c.108+14C>T
|
|
|
NM_000709.4(BCKDHA):c.108+15C>A
|
|
|
NM_000709.4(BCKDHA):c.108+17C>T
|
|
|
NM_000709.4(BCKDHA):c.108+4A>G
|
|
|
NM_000709.4(BCKDHA):c.108+5G>C
|
rs1568499702
|
|
NM_000709.4(BCKDHA):c.108+8C>T
|
rs1235086887
|
|
NM_000709.4(BCKDHA):c.108+9C>T
|
|
|
NM_000709.4(BCKDHA):c.1080C>A (p.Pro360=)
|
rs373390136
|
|
NM_000709.4(BCKDHA):c.1080C>G (p.Pro360=)
|
rs373390136
|
|
NM_000709.4(BCKDHA):c.109-11C>G
|
|
|
NM_000709.4(BCKDHA):c.109-14G>A
|
|
|
NM_000709.4(BCKDHA):c.109-15T>A
|
|
|
NM_000709.4(BCKDHA):c.109-16C>T
|
rs2123253546
|
|
NM_000709.4(BCKDHA):c.109-19C>T
|
|
|
NM_000709.4(BCKDHA):c.109-1G>A
|
rs2123253583
|
|
NM_000709.4(BCKDHA):c.109-4C>G
|
rs2039240714
|
|
NM_000709.4(BCKDHA):c.109-5C>T
|
rs2123253575
|
|
NM_000709.4(BCKDHA):c.109-6C>T
|
|
|
NM_000709.4(BCKDHA):c.109-9C>G
|
rs866091918
|
|
NM_000709.4(BCKDHA):c.109-9C>T
|
rs866091918
|
|
NM_000709.4(BCKDHA):c.1090C>T (p.Leu364=)
|
|
|
NM_000709.4(BCKDHA):c.1101T>C (p.Tyr367=)
|
rs2039388598
|
|
NM_000709.4(BCKDHA):c.1110_1119del (p.Gln371fs)
|
rs1599962569
|
|
NM_000709.4(BCKDHA):c.1113A>G (p.Gln371=)
|
rs2039388745
|
|
NM_000709.4(BCKDHA):c.1115del (p.Gly372fs)
|
rs2122146680
|
|
NM_000709.4(BCKDHA):c.1119G>A (p.Trp373Ter)
|
rs765543886
|
|
NM_000709.4(BCKDHA):c.111C>T (p.His37=)
|
|
|
NM_000709.4(BCKDHA):c.1121G>A (p.Trp374Ter)
|
|
|
NM_000709.4(BCKDHA):c.1137del (p.Lys380fs)
|
|
|
NM_000709.4(BCKDHA):c.114C>G (p.Pro38=)
|
rs11549935
|
|
NM_000709.4(BCKDHA):c.114C>T (p.Pro38=)
|
rs11549935
|
|
NM_000709.4(BCKDHA):c.115C>T (p.Pro39Ser)
|
rs750739703
|
|
NM_000709.4(BCKDHA):c.1167+11C>A
|
|
|
NM_000709.4(BCKDHA):c.1167+13C>T
|
|
|
NM_000709.4(BCKDHA):c.1167+13del
|
rs2122146856
|
|
NM_000709.4(BCKDHA):c.1167+17C>A
|
|
|
NM_000709.4(BCKDHA):c.1167+17C>G
|
rs550593850
|
|
NM_000709.4(BCKDHA):c.1167+17C>T
|
rs550593850
|
|
NM_000709.4(BCKDHA):c.1167+18G>A
|
|
|
NM_000709.4(BCKDHA):c.1167+19G>C
|
|
|
NM_000709.4(BCKDHA):c.1167+1G>C
|
rs2039389302
|
|
NM_000709.4(BCKDHA):c.1167+1del
|
rs1555767169
|
|
NM_000709.4(BCKDHA):c.1167+7G>A
|
|
|
NM_000709.4(BCKDHA):c.1168-10G>C
|
|
|
NM_000709.4(BCKDHA):c.1168-11dup
|
|
|
NM_000709.4(BCKDHA):c.1168-12A>G
|
|
|
NM_000709.4(BCKDHA):c.1168-15C>A
|
|
|
NM_000709.4(BCKDHA):c.1168-16C>T
|
|
|
NM_000709.4(BCKDHA):c.1168-1G>A
|
rs2039405116
|
|
NM_000709.4(BCKDHA):c.1168-2A>G
|
rs1555767285
|
|
NM_000709.4(BCKDHA):c.1168-4A>G
|
rs2039405052
|
|
NM_000709.4(BCKDHA):c.1168-6C>T
|
rs1045187712
|
|
NM_000709.4(BCKDHA):c.1168-8C>G
|
rs2039404920
|
|
NM_000709.4(BCKDHA):c.116C>G (p.Pro39Arg)
|
|
|
NM_000709.4(BCKDHA):c.116_117dup (p.Arg40fs)
|
rs398123489
|
|
NM_000709.4(BCKDHA):c.1170G>A (p.Val390=)
|
|
|
NM_000709.4(BCKDHA):c.1179C>G (p.Ala393=)
|
rs2122150496
|
|
NM_000709.4(BCKDHA):c.1179_1180del (p.Ala393_Phe394insTer)
|
|
|
NM_000709.4(BCKDHA):c.117C>G (p.Pro39=)
|
rs80014754
|
|
NM_000709.4(BCKDHA):c.117C>T (p.Pro39=)
|
|
|
NM_000709.4(BCKDHA):c.117del (p.Arg40fs)
|
rs398123489
|
|
NM_000709.4(BCKDHA):c.117dup (p.Arg40fs)
|
rs398123489
|
|
NM_000709.4(BCKDHA):c.1180T>C (p.Phe394Leu)
|
|
|
NM_000709.4(BCKDHA):c.1182T>C (p.Phe394=)
|
|
|
NM_000709.4(BCKDHA):c.1189G>A (p.Ala397Thr)
|
|
|
NM_000709.4(BCKDHA):c.1192G>T (p.Glu398Ter)
|
rs201168715
|
|
NM_000709.4(BCKDHA):c.1194G>A (p.Glu398=)
|
|
|
NM_000709.4(BCKDHA):c.1196G>A (p.Arg399Gln)
|
|
|
NM_000709.4(BCKDHA):c.1197G>C (p.Arg399=)
|
rs2122150577
|
|
NM_000709.4(BCKDHA):c.1198A>T (p.Lys400Ter)
|
rs863225262
|
|
NM_000709.4(BCKDHA):c.1203C>G (p.Pro401=)
|
rs2122150604
|
|
NM_000709.4(BCKDHA):c.1209C>G (p.Pro403=)
|
|
|
NM_000709.4(BCKDHA):c.1215C>A (p.Pro405=)
|
rs2122150692
|
|
NM_000709.4(BCKDHA):c.1218C>T (p.Asn406=)
|
|
|
NM_000709.4(BCKDHA):c.121CAG[5] (p.Gln44dup)
|
rs756657259
|
|
NM_000709.4(BCKDHA):c.1226T>G (p.Phe409Cys)
|
rs137852872
|
|
NM_000709.4(BCKDHA):c.1227C>G (p.Phe409Leu)
|
rs2098470870
|
|
NM_000709.4(BCKDHA):c.1236G>C (p.Val412=)
|
rs2122150817
|
|
NM_000709.4(BCKDHA):c.1237dup (p.Tyr413fs)
|
|
|
NM_000709.4(BCKDHA):c.1238A>G (p.Tyr413Cys)
|
|
|
NM_000709.4(BCKDHA):c.123G>A (p.Gln41=)
|
rs2123253682
|
|
NM_000709.4(BCKDHA):c.1251del (p.Ala418fs)
|
|
|
NM_000709.4(BCKDHA):c.1255C>T (p.Gln419Ter)
|
|
|
NM_000709.4(BCKDHA):c.1267CAG[1] (p.Gln424del)
|
rs1555767305
|
|
NM_000709.4(BCKDHA):c.1275G>A (p.Glu425=)
|
rs2122151027
|
|
NM_000709.4(BCKDHA):c.1278T>A (p.Ser426=)
|
rs2122151044
|
|
NM_000709.4(BCKDHA):c.1280_1282del (p.Leu427_Ala428delinsPro)
|
rs755691417
|
|
NM_000709.4(BCKDHA):c.1281G>C (p.Leu427=)
|
|
|
NM_000709.4(BCKDHA):c.1285C>T (p.Arg429Cys)
|
|
|
NM_000709.4(BCKDHA):c.12G>A (p.Ala4=)
|
|
|
NM_000709.4(BCKDHA):c.12G>C (p.Ala4=)
|
rs2123232527
|
|
NM_000709.4(BCKDHA):c.12_13insGACGGGCGAGGTGGCTCACGCCTGAAATCCCAGCACTATGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGANNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAGATGGCGGTAGCG (p.Ile5fs)
|
|
|
NM_000709.4(BCKDHA):c.1306G>T (p.Glu436Ter)
|
rs1298823471
|
|
NM_000709.4(BCKDHA):c.1308G>A (p.Glu436=)
|
rs755138169
|
|
NM_000709.4(BCKDHA):c.1310_1311del (p.His437fs)
|
rs398123492
|
|
NM_000709.4(BCKDHA):c.1311C>T (p.His437=)
|
|
|
NM_000709.4(BCKDHA):c.1312T>C (p.Tyr438His)
|
rs137852870
|
|
NM_000709.4(BCKDHA):c.1313_1319del (p.Tyr438fs)
|
rs2039407382
|
|
NM_000709.4(BCKDHA):c.1314C>T (p.Tyr438=)
|
rs398123493
|
|
NM_000709.4(BCKDHA):c.1317A>C (p.Pro439=)
|
rs749795206
|
|
NM_000709.4(BCKDHA):c.1332T>C (p.Asp444=)
|
|
|
NM_000709.4(BCKDHA):c.1335G>A (p.Lys445=)
|
|
|
NM_000709.4(BCKDHA):c.135T>G (p.Phe45Leu)
|
rs1430080785
|
|
NM_000709.4(BCKDHA):c.136del (p.Ser46fs)
|
|
|
NM_000709.4(BCKDHA):c.138A>T (p.Ser46=)
|
rs1342568998
|
|
NM_000709.4(BCKDHA):c.143T>C (p.Leu48Pro)
|
rs879103338
|
|
NM_000709.4(BCKDHA):c.143del (p.Leu48fs)
|
rs1555765593
|
|
NM_000709.4(BCKDHA):c.148G>C (p.Asp50His)
|
|
|
NM_000709.4(BCKDHA):c.14del (p.Ile5fs)
|
rs398123494
|
|
NM_000709.4(BCKDHA):c.156C>T (p.Pro52=)
|
|
|
NM_000709.4(BCKDHA):c.15C>A (p.Ile5=)
|
rs17173144
|
|
NM_000709.4(BCKDHA):c.164del (p.Pro55fs)
|
|
|
NM_000709.4(BCKDHA):c.165A>G (p.Pro55=)
|
rs1216017259
|
|
NM_000709.4(BCKDHA):c.171C>T (p.Ala57=)
|
rs2039242293
|
|
NM_000709.4(BCKDHA):c.173C>T (p.Ser58Leu)
|
|
|
NM_000709.4(BCKDHA):c.183T>C (p.Phe61=)
|
|
|
NM_000709.4(BCKDHA):c.186A>T (p.Ile62=)
|
rs149251798
|
|
NM_000709.4(BCKDHA):c.196G>T (p.Glu66Ter)
|
rs2039242789
|
|
NM_000709.4(BCKDHA):c.198A>G (p.Glu66=)
|
|
|
NM_000709.4(BCKDHA):c.202A>G (p.Ile68Val)
|
|
|
NM_000709.4(BCKDHA):c.203T>A (p.Ile68Asn)
|
|
|
NM_000709.4(BCKDHA):c.204C>A (p.Ile68=)
|
rs2123253880
|
|
NM_000709.4(BCKDHA):c.208C>T (p.Pro70Ser)
|
|
|
NM_000709.4(BCKDHA):c.210C>T (p.Pro70=)
|
|
|
NM_000709.4(BCKDHA):c.214G>A (p.Val72Ile)
|
|
|
NM_000709.4(BCKDHA):c.216C>G (p.Val72=)
|
|
|
NM_000709.4(BCKDHA):c.21A>C (p.Ala7=)
|
|
|
NM_000709.4(BCKDHA):c.21A>G (p.Ala7=)
|
|
|
NM_000709.4(BCKDHA):c.222T>G (p.Ser74=)
|
|
|
NM_000709.4(BCKDHA):c.228C>T (p.Ile76=)
|
|
|
NM_000709.4(BCKDHA):c.231C>A (p.Pro77=)
|
|
|
NM_000709.4(BCKDHA):c.231C>G (p.Pro77=)
|
rs2123253941
|
|
NM_000709.4(BCKDHA):c.239G>A (p.Arg80His)
|
|
|
NM_000709.4(BCKDHA):c.241G>A (p.Val81Ile)
|
|
|
NM_000709.4(BCKDHA):c.243C>A (p.Val81=)
|
rs2123253975
|
|
NM_000709.4(BCKDHA):c.246G>A (p.Met82Ile)
|
|
|
NM_000709.4(BCKDHA):c.24G>A (p.Ala8=)
|
rs1348307618
|
|
NM_000709.4(BCKDHA):c.251G>A (p.Arg84Gln)
|
|
|
NM_000709.4(BCKDHA):c.252G>A (p.Arg84=)
|
|
|
NM_000709.4(BCKDHA):c.252G>T (p.Arg84=)
|
rs2123254022
|
|
NM_000709.4(BCKDHA):c.253C>T (p.Gln85Ter)
|
|
|
NM_000709.4(BCKDHA):c.258C>G (p.Gly86=)
|
rs2123254043
|
|
NM_000709.4(BCKDHA):c.276C>T (p.Ser92=)
|
|
|
NM_000709.4(BCKDHA):c.277G>T (p.Glu93Ter)
|
|
|
NM_000709.4(BCKDHA):c.282C>A (p.Asp94Glu)
|
|
|
NM_000709.4(BCKDHA):c.282C>T (p.Asp94=)
|
rs922714716
|
|
NM_000709.4(BCKDHA):c.288+10G>C
|
rs376894084
|
|
NM_000709.4(BCKDHA):c.288+11G>A
|
|
|
NM_000709.4(BCKDHA):c.288+15C>T
|
|
|
NM_000709.4(BCKDHA):c.288+16C>T
|
|
|
NM_000709.4(BCKDHA):c.288+19C>A
|
|
|
NM_000709.4(BCKDHA):c.288+19C>G
|
|
|
NM_000709.4(BCKDHA):c.288+19C>T
|
|
|
NM_000709.4(BCKDHA):c.289-10C>T
|
rs2123254428
|
|
NM_000709.4(BCKDHA):c.289-12C>T
|
|
|
NM_000709.4(BCKDHA):c.289-17T>G
|
|
|
NM_000709.4(BCKDHA):c.289-20A>G
|
|
|
NM_000709.4(BCKDHA):c.289-4G>A
|
rs765966197
|
|
NM_000709.4(BCKDHA):c.289-4G>C
|
|
|
NM_000709.4(BCKDHA):c.289-6C>G
|
|
|
NM_000709.4(BCKDHA):c.289-7C>A
|
|
|
NM_000709.4(BCKDHA):c.289-7C>T
|
rs1270974379
|
|
NM_000709.4(BCKDHA):c.289-8A>C
|
|
|
NM_000709.4(BCKDHA):c.28G>T (p.Val10Phe)
|
rs1307495247
|
|
NM_000709.4(BCKDHA):c.291G>A (p.Leu97=)
|
|
|
NM_000709.4(BCKDHA):c.292_293del (p.Pro98fs)
|
|
|
NM_000709.4(BCKDHA):c.294G>C (p.Pro98=)
|
rs142967869
|
|
NM_000709.4(BCKDHA):c.303G>C (p.Lys101Asn)
|
|
|
NM_000709.4(BCKDHA):c.306G>A (p.Val102=)
|
rs755966459
|
|
NM_000709.4(BCKDHA):c.308T>C (p.Leu103Pro)
|
|
|
NM_000709.4(BCKDHA):c.309G>A (p.Leu103=)
|
|
|
NM_000709.4(BCKDHA):c.30C>G (p.Val10=)
|
rs2123232613
|
|
NM_000709.4(BCKDHA):c.30C>T (p.Val10=)
|
rs2123232613
|
|
NM_000709.4(BCKDHA):c.315C>T (p.Leu105=)
|
|
|
NM_000709.4(BCKDHA):c.318C>A (p.Tyr106Ter)
|
|
|
NM_000709.4(BCKDHA):c.318C>G (p.Tyr106Ter)
|
|
|
NM_000709.4(BCKDHA):c.318C>T (p.Tyr106=)
|
|
|
NM_000709.4(BCKDHA):c.319A>T (p.Lys107Ter)
|
|
|
NM_000709.4(BCKDHA):c.324C>T (p.Ser108=)
|
|
|
NM_000709.4(BCKDHA):c.32G>A (p.Trp11Ter)
|
|
|
NM_000709.4(BCKDHA):c.330A>G (p.Thr110=)
|
|
|
NM_000709.4(BCKDHA):c.332T>C (p.Leu111Pro)
|
rs1568503938
|
|
NM_000709.4(BCKDHA):c.336T>A (p.Leu112=)
|
rs150700696
|
|
NM_000709.4(BCKDHA):c.33G>A (p.Trp11Ter)
|
rs1207966026
|
|
NM_000709.4(BCKDHA):c.342C>T (p.Thr114=)
|
|
|
NM_000709.4(BCKDHA):c.347A>G (p.Asp116Gly)
|
rs398123498
|
|
NM_000709.4(BCKDHA):c.348C>T (p.Asp116=)
|
rs2123254617
|
|
NM_000709.4(BCKDHA):c.357C>T (p.Leu119=)
|
|
|
NM_000709.4(BCKDHA):c.357_358del (p.Leu119_Tyr120insTer)
|
rs2123254646
|
|
NM_000709.4(BCKDHA):c.35G>A (p.Arg12Gln)
|
rs769659202
|
|
NM_000709.4(BCKDHA):c.35G>C (p.Arg12Pro)
|
rs769659202
|
|
NM_000709.4(BCKDHA):c.367C>T (p.Gln123Ter)
|
rs2039247540
|
|
NM_000709.4(BCKDHA):c.371G>C (p.Arg124Pro)
|
rs752700457
|
|
NM_000709.4(BCKDHA):c.375+16A>G
|
|
|
NM_000709.4(BCKDHA):c.375+17C>T
|
|
|
NM_000709.4(BCKDHA):c.375+19del
|
|
|
NM_000709.4(BCKDHA):c.375+1G>A
|
|
|
NM_000709.4(BCKDHA):c.375+2T>G
|
|
|
NM_000709.4(BCKDHA):c.375+5G>A
|
|
|
NM_000709.4(BCKDHA):c.375+7G>A
|
|
|
NM_000709.4(BCKDHA):c.375+9G>A
|
rs2123254726
|
|
NM_000709.4(BCKDHA):c.376-10A>G
|
rs3213861
|
|
NM_000709.4(BCKDHA):c.376-10_376-9delinsCA
|
rs2123259725
|
|
NM_000709.4(BCKDHA):c.376-12C>T
|
|
|
NM_000709.4(BCKDHA):c.376-13T>A
|
|
|
NM_000709.4(BCKDHA):c.376-15C>A
|
|
|
NM_000709.4(BCKDHA):c.376-1G>A
|
|
|
NM_000709.4(BCKDHA):c.376-20G>C
|
|
|
NM_000709.4(BCKDHA):c.376-2A>G
|
|
|
NM_000709.4(BCKDHA):c.376-3dup
|
rs2123259752
|
|
NM_000709.4(BCKDHA):c.376-8A>T
|
rs398123501
|
|
NM_000709.4(BCKDHA):c.376-9C>T
|
rs555417586
|
|
NM_000709.4(BCKDHA):c.379C>T (p.Arg127Trp)
|
|
|
NM_000709.4(BCKDHA):c.387C>T (p.Ser129=)
|
|
|
NM_000709.4(BCKDHA):c.397A>G (p.Thr133Ala)
|
|
|
NM_000709.4(BCKDHA):c.397del (p.Thr133fs)
|
|
|
NM_000709.4(BCKDHA):c.399delinsAA (p.Asn134fs)
|
rs1057519059
|
|
NM_000709.4(BCKDHA):c.39A>G (p.Leu13=)
|
|
|
NM_000709.4(BCKDHA):c.3G>A (p.Met1Ile)
|
rs1555764014
|
|
NM_000709.4(BCKDHA):c.402del (p.Tyr135fs)
|
|
|
NM_000709.4(BCKDHA):c.405T>A (p.Tyr135Ter)
|
rs1459441231
|
|
NM_000709.4(BCKDHA):c.410_426dup (p.Gly143fs)
|
|
|
NM_000709.4(BCKDHA):c.416del (p.Gly139fs)
|
|
|
NM_000709.4(BCKDHA):c.41del (p.Asn14fs)
|
|
|
NM_000709.4(BCKDHA):c.420G>C (p.Thr140=)
|
|
|
NM_000709.4(BCKDHA):c.420G>T (p.Thr140=)
|
rs143608852
|
|
NM_000709.4(BCKDHA):c.423C>T (p.His141=)
|
rs146804716
|
|
NM_000709.4(BCKDHA):c.426G>A (p.Val142=)
|
rs748925009
|
|
NM_000709.4(BCKDHA):c.428G>A (p.Gly143Glu)
|
rs2039284027
|
|
NM_000709.4(BCKDHA):c.429del (p.Ser144fs)
|
|
|
NM_000709.4(BCKDHA):c.42C>T (p.Asn14=)
|
rs1568499644
|
|
NM_000709.4(BCKDHA):c.434C>T (p.Ala145Val)
|
rs1331666622
|
|
NM_000709.4(BCKDHA):c.438C>G (p.Ala146=)
|
rs200947033
|
|
NM_000709.4(BCKDHA):c.43C>T (p.Arg15Cys)
|
rs371408960
|
|
NM_000709.4(BCKDHA):c.441C>G (p.Ala147=)
|
rs2039284438
|
|
NM_000709.4(BCKDHA):c.453G>A (p.Thr151=)
|
|
|
NM_000709.4(BCKDHA):c.454G>A (p.Asp152Asn)
|
rs2122122610
|
|
NM_000709.4(BCKDHA):c.456C>A (p.Asp152Glu)
|
|
|
NM_000709.4(BCKDHA):c.459G>A (p.Leu153=)
|
|
|
NM_000709.4(BCKDHA):c.469C>T (p.Gln157Ter)
|
|
|
NM_000709.4(BCKDHA):c.470A>C (p.Gln157Pro)
|
rs869312125
|
|
NM_000709.4(BCKDHA):c.484+10T>G
|
rs2122122705
|
|
NM_000709.4(BCKDHA):c.484+12C>T
|
|
|
NM_000709.4(BCKDHA):c.484+13G>A
|
|
|
NM_000709.4(BCKDHA):c.484+16G>A
|
|
|
NM_000709.4(BCKDHA):c.484+18T>A
|
|
|
NM_000709.4(BCKDHA):c.484+19T>C
|
|
|
NM_000709.4(BCKDHA):c.484+1G>A
|
rs2122122667
|
|
NM_000709.4(BCKDHA):c.484+7C>T
|
|
|
NM_000709.4(BCKDHA):c.484+7dup
|
|
|
NM_000709.4(BCKDHA):c.484+8_484+11dup
|
rs1489683670
|
|
NM_000709.4(BCKDHA):c.484G>A (p.Gly162Ser)
|
rs2039285328
|
|
NM_000709.4(BCKDHA):c.485-10C>A
|
rs760838451
|
|
NM_000709.4(BCKDHA):c.485-10C>T
|
|
|
NM_000709.4(BCKDHA):c.485-13C>G
|
|
|
NM_000709.4(BCKDHA):c.485-19T>C
|
|
|
NM_000709.4(BCKDHA):c.485-7C>G
|
|
|
NM_000709.4(BCKDHA):c.485-8C>T
|
|
|
NM_000709.4(BCKDHA):c.485G>A (p.Gly162Asp)
|
|
|
NM_000709.4(BCKDHA):c.489G>A (p.Val163=)
|
rs2122134466
|
|
NM_000709.4(BCKDHA):c.495G>A (p.Met165Ile)
|
rs754327984
|
|
NM_000709.4(BCKDHA):c.507C>G (p.Tyr169Ter)
|
|
|
NM_000709.4(BCKDHA):c.510C>T (p.Pro170=)
|
|
|
NM_000709.4(BCKDHA):c.511del (p.Leu171fs)
|
rs762084007
|
|
NM_000709.4(BCKDHA):c.519A>G (p.Leu173=)
|
|
|
NM_000709.4(BCKDHA):c.522C>T (p.Phe174=)
|
|
|
NM_000709.4(BCKDHA):c.529C>T (p.Gln177Ter)
|
|
|
NM_000709.4(BCKDHA):c.549T>C (p.Ser183=)
|
rs981398635
|
|
NM_000709.4(BCKDHA):c.554del (p.Leu185fs)
|
rs1568506608
|
|
NM_000709.4(BCKDHA):c.55C>T (p.Gln19Ter)
|
|
|
NM_000709.4(BCKDHA):c.562G>T (p.Gly188Trp)
|
rs1555766625
|
|
NM_000709.4(BCKDHA):c.564dup (p.Arg189fs)
|
|
|
NM_000709.4(BCKDHA):c.566G>A (p.Arg189His)
|
|
|
NM_000709.4(BCKDHA):c.567C>T (p.Arg189=)
|
|
|
NM_000709.4(BCKDHA):c.582C>T (p.His194=)
|
|
|
NM_000709.4(BCKDHA):c.585C>A (p.Tyr195Ter)
|
rs575806482
|
|
NM_000709.4(BCKDHA):c.586G>A (p.Gly196Ser)
|
rs1191782907
|
|
NM_000709.4(BCKDHA):c.588C>G (p.Gly196=)
|
rs2122134825
|
|
NM_000709.4(BCKDHA):c.60T>A (p.Ala20=)
|
|
|
NM_000709.4(BCKDHA):c.60T>C (p.Ala20=)
|
rs751351926
|
|
NM_000709.4(BCKDHA):c.623C>T (p.Pro208Leu)
|
|
|
NM_000709.4(BCKDHA):c.625C>T (p.Leu209=)
|
rs762226416
|
|
NM_000709.4(BCKDHA):c.633G>T (p.Thr211=)
|
rs750729027
|
|
NM_000709.4(BCKDHA):c.639C>A (p.Ile213=)
|
rs10404506
|
|
NM_000709.4(BCKDHA):c.63C>G (p.Ala21=)
|
rs140322984
|
|
NM_000709.4(BCKDHA):c.644_645del (p.Gln215fs)
|
|
|
NM_000709.4(BCKDHA):c.646+13G>C
|
|
|
NM_000709.4(BCKDHA):c.646+15C>T
|
|
|
NM_000709.4(BCKDHA):c.646+20A>G
|
|
|
NM_000709.4(BCKDHA):c.646+7ATGC[3]
|
rs2122135109
|
|
NM_000709.4(BCKDHA):c.646+8T>C
|
|
|
NM_000709.4(BCKDHA):c.647-10T>C
|
|
|
NM_000709.4(BCKDHA):c.647-18C>T
|
|
|
NM_000709.4(BCKDHA):c.647-19A>G
|
|
|
NM_000709.4(BCKDHA):c.647-6C>T
|
rs1304412476
|
|
NM_000709.4(BCKDHA):c.647-7C>T
|
|
|
NM_000709.4(BCKDHA):c.648G>A (p.Ala216=)
|
|
|
NM_000709.4(BCKDHA):c.648G>C (p.Ala216=)
|
|
|
NM_000709.4(BCKDHA):c.648G>T (p.Ala216=)
|
rs114716391
|
|
NM_000709.4(BCKDHA):c.653G>C (p.Gly218Ala)
|
rs2039372961
|
|
NM_000709.4(BCKDHA):c.655del (p.Ala219fs)
|
|
|
NM_000709.4(BCKDHA):c.657G>C (p.Ala219=)
|
|
|
NM_000709.4(BCKDHA):c.659del (p.Ala220fs)
|
|
|
NM_000709.4(BCKDHA):c.65del (p.Leu22fs)
|
rs2123232744
|
|
NM_000709.4(BCKDHA):c.661_664del (p.Tyr221fs)
|
rs796051938
|
|
NM_000709.4(BCKDHA):c.663del (p.Ala220_Tyr221insTer)
|
rs2122142757
|
|
NM_000709.4(BCKDHA):c.669C>A (p.Ala223=)
|
|
|
NM_000709.4(BCKDHA):c.66C>T (p.Leu22=)
|
|
|
NM_000709.4(BCKDHA):c.672G>A (p.Lys224=)
|
|
|
NM_000709.4(BCKDHA):c.673C>T (p.Arg225Trp)
|
|
|
NM_000709.4(BCKDHA):c.675G>T (p.Arg225=)
|
rs2122142848
|
|
NM_000709.4(BCKDHA):c.677C>T (p.Ala226Val)
|
|
|
NM_000709.4(BCKDHA):c.67del (p.Leu23fs)
|
|
|
NM_000709.4(BCKDHA):c.691G>T (p.Val231Phe)
|
rs2122142932
|
|
NM_000709.4(BCKDHA):c.694G>A (p.Val232Ile)
|
|
|
NM_000709.4(BCKDHA):c.695_696del (p.Val232fs)
|
|
|
NM_000709.4(BCKDHA):c.699_700del (p.Ile233fs)
|
|
|
NM_000709.4(BCKDHA):c.69G>C (p.Leu23=)
|
rs2123232753
|
|
NM_000709.4(BCKDHA):c.6G>A (p.Ala2=)
|
rs1420392096
|
|
NM_000709.4(BCKDHA):c.701_702del (p.Cys234fs)
|
rs2122142979
|
|
NM_000709.4(BCKDHA):c.705C>T (p.Tyr235=)
|
rs2039374030
|
|
NM_000709.4(BCKDHA):c.709G>A (p.Gly237Ser)
|
|
|
NM_000709.4(BCKDHA):c.712G>A (p.Glu238Lys)
|
|
|
NM_000709.4(BCKDHA):c.712G>T (p.Glu238Ter)
|
rs1303770209
|
|
NM_000709.4(BCKDHA):c.718del (p.Ala240fs)
|
rs1555766993
|
|
NM_000709.4(BCKDHA):c.723C>T (p.Ala241=)
|
rs2122143075
|
|
NM_000709.4(BCKDHA):c.731G>T (p.Gly244Val)
|
|
|
NM_000709.4(BCKDHA):c.740A>G (p.His247Arg)
|
rs1468416468
|
|
NM_000709.4(BCKDHA):c.741dup (p.Ala248fs)
|
rs398123504
|
|
NM_000709.4(BCKDHA):c.743C>T (p.Ala248Val)
|
rs887411374
|
|
NM_000709.4(BCKDHA):c.745G>T (p.Gly249Cys)
|
rs137852874
|
|
NM_000709.4(BCKDHA):c.746G>T (p.Gly249Val)
|
|
|
NM_000709.4(BCKDHA):c.746_747del (p.Gly249fs)
|
|
|
NM_000709.4(BCKDHA):c.753C>T (p.Asn251=)
|
|
|
NM_000709.4(BCKDHA):c.755_756insA (p.Phe252fs)
|
|
|
NM_000709.4(BCKDHA):c.75G>A (p.Leu25=)
|
rs1599945228
|
|
NM_000709.4(BCKDHA):c.761C>A (p.Ala254Asp)
|
rs373713279
|
|
NM_000709.4(BCKDHA):c.762C>T (p.Ala254=)
|
|
|
NM_000709.4(BCKDHA):c.765A>G (p.Thr255=)
|
rs1305172669
|
|
NM_000709.4(BCKDHA):c.773_774delinsAA (p.Cys258Ter)
|
rs2122143379
|
|
NM_000709.4(BCKDHA):c.776C>T (p.Pro259Leu)
|
rs2122143393
|
|
NM_000709.4(BCKDHA):c.777C>T (p.Pro259=)
|
|
|
NM_000709.4(BCKDHA):c.782TCT[2] (p.Phe263del)
|
rs398123505
|
|
NM_000709.4(BCKDHA):c.789C>T (p.Phe263=)
|
|
|
NM_000709.4(BCKDHA):c.78del (p.Gln27fs)
|
rs2123232769
|
|
NM_000709.4(BCKDHA):c.792C>G (p.Cys264Trp)
|
rs137852876
|
|
NM_000709.4(BCKDHA):c.794G>A (p.Arg265Gln)
|
rs761996996
|
|
NM_000709.4(BCKDHA):c.794G>C (p.Arg265Pro)
|
rs761996996
|
|
NM_000709.4(BCKDHA):c.796_797delinsT (p.Asn266fs)
|
|
|
NM_000709.4(BCKDHA):c.797_798delinsT (p.Asn266fs)
|
|
|
NM_000709.4(BCKDHA):c.800A>G (p.Asn267Ser)
|
|
|
NM_000709.4(BCKDHA):c.810C>T (p.Ala270=)
|
rs2039376289
|
|
NM_000709.4(BCKDHA):c.816C>G (p.Ser272=)
|
|
|
NM_000709.4(BCKDHA):c.819G>A (p.Thr273=)
|
rs201991385
|
|
NM_000709.4(BCKDHA):c.822C>T (p.Pro274=)
|
rs2122143602
|
|
NM_000709.4(BCKDHA):c.825C>T (p.Thr275=)
|
rs1555767021
|
|
NM_000709.4(BCKDHA):c.828T>G (p.Ser276=)
|
rs2039376515
|
|
NM_000709.4(BCKDHA):c.835del (p.Tyr279fs)
|
|
|
NM_000709.4(BCKDHA):c.838C>T (p.Arg280Cys)
|
|
|
NM_000709.4(BCKDHA):c.842G>T (p.Gly281Val)
|
rs886054461
|
|
NM_000709.4(BCKDHA):c.844G>C (p.Asp282His)
|
rs869312124
|
|
NM_000709.4(BCKDHA):c.84T>G (p.Pro28=)
|
|
|
NM_000709.4(BCKDHA):c.853+10C>T
|
|
|
NM_000709.4(BCKDHA):c.853+11T>C
|
rs1555767032
|
|
NM_000709.4(BCKDHA):c.853+12G>A
|
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|
NM_000709.4(BCKDHA):c.853+13C>T
|
|
|
NM_000709.4(BCKDHA):c.853+19G>A
|
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NM_000709.4(BCKDHA):c.853+19G>T
|
|
|
NM_000709.4(BCKDHA):c.853+1G>C
|
|
|
NM_000709.4(BCKDHA):c.853+1G>T
|
rs1555767028
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NM_000709.4(BCKDHA):c.853+20C>T
|
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|
NM_000709.4(BCKDHA):c.853+2T>C
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NM_000709.4(BCKDHA):c.853+8C>T
|
|
|
NM_000709.4(BCKDHA):c.854-14C>G
|
rs372967761
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NM_000709.4(BCKDHA):c.854-14_854-13del
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|
|
NM_000709.4(BCKDHA):c.854-16C>T
|
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|
NM_000709.4(BCKDHA):c.854-8C>T
|
|
|
NM_000709.4(BCKDHA):c.859C>G (p.Arg287Gly)
|
rs764247545
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NM_000709.4(BCKDHA):c.859C>T (p.Arg287Ter)
|
rs764247545
|
|
NM_000709.4(BCKDHA):c.861_868del (p.Gly288fs)
|
rs794727847
|
|
NM_000709.4(BCKDHA):c.87G>A (p.Gly29=)
|
rs1599945255
|
|
NM_000709.4(BCKDHA):c.888C>T (p.Ile296=)
|
rs1237555239
|
|
NM_000709.4(BCKDHA):c.892G>A (p.Val298Met)
|
rs1253348004
|
|
NM_000709.4(BCKDHA):c.904G>A (p.Asp302Asn)
|
|
|
NM_000709.4(BCKDHA):c.905A>C (p.Asp302Ala)
|
rs398123509
|
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NM_000709.4(BCKDHA):c.905A>G (p.Asp302Gly)
|
|
|
NM_000709.4(BCKDHA):c.906T>A (p.Asp302Glu)
|
|
|
NM_000709.4(BCKDHA):c.909_910del (p.Phe304fs)
|
rs398123510
|
|
NM_000709.4(BCKDHA):c.918A>C (p.Val306=)
|
|
|
NM_000709.4(BCKDHA):c.925G>T (p.Ala309Ser)
|
|
|
NM_000709.4(BCKDHA):c.931A>T (p.Lys311Ter)
|
rs2039381583
|
|
NM_000709.4(BCKDHA):c.939C>T (p.Ala313=)
|
rs2039381646
|
|
NM_000709.4(BCKDHA):c.940C>A (p.Arg314=)
|
rs753698250
|
|
NM_000709.4(BCKDHA):c.949G>T (p.Ala317Ser)
|
|
|
NM_000709.4(BCKDHA):c.955del (p.Ala319fs)
|
|
|
NM_000709.4(BCKDHA):c.963C>T (p.Asn321=)
|
rs2122145204
|
|
NM_000709.4(BCKDHA):c.964C>T (p.Gln322Ter)
|
rs398123513
|
|
NM_000709.4(BCKDHA):c.968C>G (p.Pro323Arg)
|
rs779466371
|
|
NM_000709.4(BCKDHA):c.978C>A (p.Ile326=)
|
rs398123514
|
|
NM_000709.4(BCKDHA):c.978C>G (p.Ile326Met)
|
|
|
NM_000709.4(BCKDHA):c.981G>A (p.Glu327=)
|
|
|
NM_000709.4(BCKDHA):c.981G>C (p.Glu327Asp)
|
rs2039382789
|
|
NM_000709.4(BCKDHA):c.990C>A (p.Thr330=)
|
rs1213059681
|
|
NM_000709.4(BCKDHA):c.990C>T (p.Thr330=)
|
|
|
NM_000709.4(BCKDHA):c.992dup (p.Tyr331Ter)
|
rs1555767090
|
|
NM_000709.4(BCKDHA):c.993C>G (p.Tyr331Ter)
|
|
|
NM_000709.4(BCKDHA):c.993C>T (p.Tyr331=)
|
|
|
NM_000709.4(BCKDHA):c.995+10G>C
|
|
|
NM_000709.4(BCKDHA):c.995+13C>T
|
|
|
NM_000709.4(BCKDHA):c.995+15C>T
|
|
|
NM_000709.4(BCKDHA):c.995+16C>A
|
|
|
NM_000709.4(BCKDHA):c.995+17C>G
|
|
|
NM_000709.4(BCKDHA):c.995+17C>T
|
|
|
NM_000709.4(BCKDHA):c.995+18C>A
|
|
|
NM_000709.4(BCKDHA):c.995+18C>G
|
|
|
NM_000709.4(BCKDHA):c.995+18C>T
|
|
|
NM_000709.4(BCKDHA):c.995+18del
|
|
|
NM_000709.4(BCKDHA):c.995+18dup
|
|
|
NM_000709.4(BCKDHA):c.995+1G>A
|
rs2039383036
|
|
NM_000709.4(BCKDHA):c.995+20T>C
|
|
|
NM_000709.4(BCKDHA):c.995+2T>C
|
|
|
NM_000709.4(BCKDHA):c.995+8C>T
|
rs886054462
|
|
NM_000709.4(BCKDHA):c.995+9C>G
|
rs13343330
|
|
NM_000709.4(BCKDHA):c.996-10C>G
|
rs748005370
|
|
NM_000709.4(BCKDHA):c.996-11C>T
|
|
|
NM_000709.4(BCKDHA):c.996-13T>C
|
|
|
NM_000709.4(BCKDHA):c.996-19G>A
|
|
|
NM_000709.4(BCKDHA):c.996-19G>C
|
|
|
NM_000709.4(BCKDHA):c.996-1G>A
|
|
|
NM_000709.4(BCKDHA):c.996-20G>A
|
|
|
NM_000709.4(BCKDHA):c.996-21_996-14del
|
|
|
NM_000709.4(BCKDHA):c.996-2A>G
|
rs2122146208
|
|
NM_000709.4(BCKDHA):c.996-33dup
|
rs3217385
|
|
NM_000709.4(BCKDHA):c.996-6G>C
|
rs74586298
|
|
NM_000709.4(BCKDHA):c.996-8C>T
|
|
|
NM_000709.4(BCKDHA):c.996-9C>G
|
rs2039386647
|
|