NM_001918.5(DBT):c.1150A>G (p.Ser384Gly)
|
rs12021720
|
0.87100
|
NM_000709.3(BCKDHA):c.-34T>G
|
rs45500792
|
0.09943
|
NM_000709.4(BCKDHA):c.116C>A (p.Pro39His)
|
rs11549936
|
0.07892
|
NM_183050.4(BCKDHB):c.344-88C>T
|
rs73479950
|
0.06563
|
NM_001918.5(DBT):c.*8983dup
|
rs67820832
|
0.02408
|
NM_001918.5(DBT):c.*8607G>A
|
rs150241889
|
0.01296
|
NM_001918.5(DBT):c.1281+6T>G
|
rs140115881
|
0.01022
|
NM_000709.4(BCKDHA):c.34C>A (p.Arg12=)
|
rs34541442
|
0.00893
|
NM_001918.5(DBT):c.724T>C (p.Ser242Pro)
|
rs146249007
|
0.00864
|
NM_001918.5(DBT):c.*8552A>T
|
rs543411196
|
0.00862
|
NM_000709.4(BCKDHA):c.452C>T (p.Thr151Met)
|
rs34442879
|
0.00790
|
NM_001918.5(DBT):c.1282-13_1282-9del
|
rs761681999
|
0.00456
|
NM_000709.4(BCKDHA):c.975C>T (p.Leu325=)
|
rs55940366
|
0.00365
|
NM_001918.5(DBT):c.76T>C (p.Cys26Arg)
|
rs145674833
|
0.00302
|
NM_183050.4(BCKDHB):c.*1798C>T
|
rs535334878
|
0.00251
|
NM_183050.4(BCKDHB):c.742+16A>G
|
rs140373763
|
0.00220
|
NM_001918.5(DBT):c.1418A>G (p.Asn473Ser)
|
rs75525811
|
0.00196
|
NM_000709.4(BCKDHA):c.485-28G>A
|
rs114178789
|
0.00186
|
NM_001918.5(DBT):c.753C>T (p.Asp251=)
|
rs79292123
|
0.00179
|
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.708C>T (p.Phe236=)
|
rs146932786
|
0.00092
|
NM_183050.4(BCKDHB):c.633G>C (p.Lys211Asn)
|
rs143427811
|
0.00086
|
NM_001918.5(DBT):c.327C>T (p.Thr109=)
|
rs138796800
|
0.00078
|
NM_001918.5(DBT):c.*4273C>A
|
rs12568926
|
0.00074
|
NM_183050.4(BCKDHB):c.86C>T (p.Ala29Val)
|
rs9448884
|
0.00068
|
NM_000709.4(BCKDHA):c.1191C>T (p.Ala397=)
|
rs374403946
|
0.00062
|
NM_001918.5(DBT):c.*5969C>T
|
rs141483625
|
0.00055
|
NM_000709.4(BCKDHA):c.289-5C>T
|
rs200646708
|
0.00053
|
NM_000709.4(BCKDHA):c.1081A>G (p.Ile361Val)
|
rs61736656
|
0.00052
|
NM_183050.4(BCKDHB):c.*83C>T
|
rs564127416
|
0.00052
|
NM_001918.5(DBT):c.*7307G>C
|
rs182980145
|
0.00051
|
NM_001918.5(DBT):c.1210-11T>A
|
rs751951997
|
0.00049
|
NM_000709.4(BCKDHA):c.288C>T (p.His96=)
|
rs148571328
|
0.00043
|
NM_183050.4(BCKDHB):c.411G>A (p.Ala137=)
|
rs142858149
|
0.00039
|
NM_000709.4(BCKDHA):c.63C>T (p.Ala21=)
|
rs140322984
|
0.00038
|
NM_001918.5(DBT):c.*6716C>G
|
rs529415312
|
0.00033
|
NM_000709.4(BCKDHA):c.294G>A (p.Pro98=)
|
rs142967869
|
0.00029
|
NM_000709.4(BCKDHA):c.117C>A (p.Pro39=)
|
rs80014754
|
0.00028
|
NM_183050.4(BCKDHB):c.744G>A (p.Ala248=)
|
rs147719822
|
0.00026
|
NM_000709.4(BCKDHA):c.744C>T (p.Ala248=)
|
rs137960127
|
0.00024
|
NM_001918.5(DBT):c.*7698C>T
|
rs185528579
|
0.00024
|
NM_001918.5(DBT):c.37A>G (p.Asn13Asp)
|
rs140308307
|
0.00024
|
NM_001918.5(DBT):c.1210-8A>T
|
rs535837017
|
0.00023
|
NM_001918.5(DBT):c.964T>C (p.Phe322Leu)
|
rs148571335
|
0.00022
|
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_183050.4(BCKDHB):c.*2072C>T
|
rs183153737
|
0.00020
|
NM_000709.4(BCKDHA):c.843C>T (p.Gly281=)
|
rs371343548
|
0.00019
|
NM_183050.4(BCKDHB):c.63G>T (p.Gly21=)
|
rs368345065
|
0.00019
|
NM_183050.4(BCKDHB):c.987C>T (p.His329=)
|
rs138670449
|
0.00019
|
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_183050.4(BCKDHB):c.1143G>A (p.Lys381=)
|
rs143579400
|
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.995+19G>A
|
rs373076000
|
0.00014
|
NM_000709.4(BCKDHA):c.663C>T (p.Tyr221=)
|
rs151227241
|
0.00013
|
NM_001918.5(DBT):c.747C>A (p.Gly249=)
|
rs200612682
|
0.00013
|
NM_183050.4(BCKDHB):c.168C>T (p.Phe56=)
|
rs747705382
|
0.00013
|
NM_000709.4(BCKDHA):c.1041G>A (p.Ser347=)
|
rs144276456
|
0.00011
|
NM_001918.5(DBT):c.318T>G (p.Ala106=)
|
rs146259768
|
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_001918.5(DBT):c.556-7T>C
|
rs755448648
|
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_183050.4(BCKDHB):c.840+10A>G
|
rs561940940
|
0.00008
|
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.606C>T (p.Phe202=)
|
rs370068964
|
0.00006
|
NM_000709.4(BCKDHA):c.978C>T (p.Ile326=)
|
rs398123514
|
0.00006
|
NM_001918.5(DBT):c.733C>A (p.Pro245Thr)
|
rs200339376
|
0.00006
|
NM_001918.5(DBT):c.90T>C (p.His30=)
|
rs377306925
|
0.00006
|
NM_001918.5(DBT):c.9A>G (p.Ala3=)
|
rs772869478
|
0.00006
|
NM_000709.4(BCKDHA):c.1020C>T (p.Asp340=)
|
rs548045051
|
0.00005
|
NM_000709.4(BCKDHA):c.174G>A (p.Ser58=)
|
rs576803251
|
0.00005
|
NM_001918.5(DBT):c.291C>T (p.Ser97=)
|
rs201318480
|
0.00005
|
NM_183050.4(BCKDHB):c.197-16T>C
|
rs759961267
|
0.00005
|
NM_000709.4(BCKDHA):c.1080C>T (p.Pro360=)
|
rs373390136
|
0.00004
|
NM_000709.4(BCKDHA):c.351C>T (p.Arg117=)
|
rs573976272
|
0.00004
|
NM_000709.4(BCKDHA):c.921C>T (p.Tyr307=)
|
rs758972542
|
0.00004
|
NM_001918.5(DBT):c.1051G>C (p.Glu351Gln)
|
rs142160613
|
0.00004
|
NM_001918.5(DBT):c.1143C>G (p.Gly381=)
|
rs1052326198
|
0.00004
|
NM_001918.5(DBT):c.27C>G (p.Thr9=)
|
rs371418997
|
0.00004
|
NM_001918.5(DBT):c.536G>A (p.Arg179His)
|
rs766629953
|
0.00004
|
NM_001918.5(DBT):c.562C>T (p.Leu188=)
|
rs370323452
|
0.00004
|
NM_001918.5(DBT):c.773-17A>C
|
rs144978854
|
0.00004
|
NM_001918.5(DBT):c.978C>T (p.Asn326=)
|
rs140659494
|
0.00004
|
NM_183050.4(BCKDHB):c.111C>T (p.His37=)
|
rs755592273
|
0.00004
|
NM_183050.4(BCKDHB):c.681A>C (p.Ser227=)
|
rs755637620
|
0.00004
|
NM_183050.4(BCKDHB):c.840+15T>C
|
rs764829376
|
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.293C>T (p.Pro98Leu)
|
rs532803527
|
0.00003
|
NM_000709.4(BCKDHA):c.330A>T (p.Thr110=)
|
rs201366184
|
0.00003
|
NM_000709.4(BCKDHA):c.438C>T (p.Ala146=)
|
rs200947033
|
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.891C>T (p.Arg297=)
|
rs187669174
|
0.00003
|
NM_000709.4(BCKDHA):c.999C>T (p.Ile333=)
|
rs374450070
|
0.00003
|
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.339C>T (p.Asn113=)
|
rs747299996
|
0.00002
|
NM_000709.4(BCKDHA):c.528C>A (p.Ala176=)
|
rs755611354
|
0.00002
|
NM_000709.4(BCKDHA):c.585C>T (p.Tyr195=)
|
rs575806482
|
0.00002
|
NM_000709.4(BCKDHA):c.798C>T (p.Asn266=)
|
rs772457864
|
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.996-10C>T
|
rs748005370
|
0.00002
|
NM_001918.5(DBT):c.1017+9T>C
|
rs773457541
|
0.00002
|
NM_001918.5(DBT):c.1210-11_1210-9del
|
rs1557944011
|
0.00002
|
NM_001918.5(DBT):c.1269T>C (p.Leu423=)
|
rs760929997
|
0.00002
|
NM_001918.5(DBT):c.15T>C (p.Arg5=)
|
rs773817425
|
0.00002
|
NM_001918.5(DBT):c.175+9G>A
|
rs779334816
|
0.00002
|
NM_001918.5(DBT):c.176-10del
|
rs745672858
|
0.00002
|
NM_001918.5(DBT):c.176-15C>A
|
rs762049483
|
0.00002
|
NM_001918.5(DBT):c.434-5A>C
|
rs374530437
|
0.00002
|
NM_001918.5(DBT):c.62G>A (p.Arg21His)
|
rs533707792
|
0.00002
|
NM_183050.4(BCKDHB):c.36C>T (p.Leu12=)
|
rs1464497822
|
0.00002
|
NM_183050.4(BCKDHB):c.714T>C (p.Phe238=)
|
rs774640066
|
0.00002
|
NM_183050.4(BCKDHB):c.732C>T (p.Tyr244=)
|
rs537988425
|
0.00002
|
NM_183050.4(BCKDHB):c.789C>T (p.Ala263=)
|
rs145150150
|
0.00002
|
NM_000709.4(BCKDHA):c.*324G>A
|
rs564517344
|
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.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.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.1257G>A (p.Gln419=)
|
rs1234860232
|
0.00001
|
NM_000709.4(BCKDHA):c.129G>A (p.Gln43=)
|
rs1355693373
|
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.27G>A (p.Arg9=)
|
rs545537409
|
0.00001
|
NM_000709.4(BCKDHA):c.288+7G>A
|
rs780156666
|
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.435C>T (p.Ala145=)
|
rs369278165
|
0.00001
|
NM_000709.4(BCKDHA):c.492G>C (p.Leu164=)
|
rs764618560
|
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.615C>T (p.Ile205=)
|
rs768600012
|
0.00001
|
NM_000709.4(BCKDHA):c.618C>T (p.Ser206=)
|
rs144995574
|
0.00001
|
NM_000709.4(BCKDHA):c.646+12T>C
|
rs777143993
|
0.00001
|
NM_000709.4(BCKDHA):c.647-8C>T
|
rs763820194
|
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.756C>T (p.Phe252=)
|
rs756393197
|
0.00001
|
NM_000709.4(BCKDHA):c.995+10G>A
|
rs778460909
|
0.00001
|
NM_001918.5(DBT):c.1017+8A>G
|
rs541924732
|
0.00001
|
NM_001918.5(DBT):c.1018-10T>A
|
rs1328647470
|
0.00001
|
NM_001918.5(DBT):c.1110C>T (p.Ile370=)
|
rs771962372
|
0.00001
|
NM_001918.5(DBT):c.1138T>C (p.Leu380=)
|
rs756606257
|
0.00001
|
NM_001918.5(DBT):c.1158C>T (p.Leu386=)
|
rs139943180
|
0.00001
|
NM_001918.5(DBT):c.1173T>G (p.Leu391=)
|
rs763246178
|
0.00001
|
NM_001918.5(DBT):c.1210-18_1210-9del
|
rs780660910
|
0.00001
|
NM_001918.5(DBT):c.1320G>A (p.Lys440=)
|
rs1243840387
|
0.00001
|
NM_001918.5(DBT):c.1350T>G (p.Ala450=)
|
rs149959750
|
0.00001
|
NM_001918.5(DBT):c.1371T>C (p.Gly457=)
|
rs1188716932
|
0.00001
|
NM_001918.5(DBT):c.1392C>T (p.Ser464=)
|
rs765967170
|
0.00001
|
NM_001918.5(DBT):c.176-4G>A
|
rs769021966
|
0.00001
|
NM_001918.5(DBT):c.198G>A (p.Gln66=)
|
rs201714436
|
0.00001
|
NM_001918.5(DBT):c.231A>G (p.Arg77=)
|
rs1028461413
|
0.00001
|
NM_001918.5(DBT):c.270T>C (p.Asp90=)
|
rs913574975
|
0.00001
|
NM_001918.5(DBT):c.378C>T (p.Asp126=)
|
rs1410915223
|
0.00001
|
NM_001918.5(DBT):c.387C>T (p.Ala129=)
|
rs200503541
|
0.00001
|
NM_001918.5(DBT):c.420G>A (p.Thr140=)
|
rs771792232
|
0.00001
|
NM_001918.5(DBT):c.42G>A (p.Ala14=)
|
rs758610837
|
0.00001
|
NM_001918.5(DBT):c.495G>A (p.Glu165=)
|
rs1481747202
|
0.00001
|
NM_001918.5(DBT):c.52-5del
|
rs1234151678
|
0.00001
|
NM_001918.5(DBT):c.624T>C (p.Tyr208=)
|
rs752504160
|
0.00001
|
NM_001918.5(DBT):c.765C>T (p.Pro255=)
|
rs767126022
|
0.00001
|
NM_001918.5(DBT):c.772+7A>T
|
rs904010521
|
0.00001
|
NM_001918.5(DBT):c.837T>C (p.Cys279=)
|
rs1662392437
|
0.00001
|
NM_001918.5(DBT):c.939+9C>T
|
rs779947502
|
0.00001
|
NM_183050.4(BCKDHB):c.1039-10C>T
|
rs760262704
|
0.00001
|
NM_183050.4(BCKDHB):c.1158T>G (p.Leu386=)
|
rs766392710
|
0.00001
|
NM_183050.4(BCKDHB):c.17C>T (p.Ala6Val)
|
rs534975518
|
0.00001
|
NM_183050.4(BCKDHB):c.192G>A (p.Glu64=)
|
rs1174539586
|
0.00001
|
NM_183050.4(BCKDHB):c.24C>T (p.Ala8=)
|
rs558448066
|
0.00001
|
NM_183050.4(BCKDHB):c.258C>T (p.Ala86=)
|
rs756064958
|
0.00001
|
NM_183050.4(BCKDHB):c.274+8T>G
|
rs144531503
|
0.00001
|
NM_183050.4(BCKDHB):c.344-9T>C
|
rs1479038293
|
0.00001
|
NM_183050.4(BCKDHB):c.393A>T (p.Gly131=)
|
rs934559515
|
0.00001
|
NM_183050.4(BCKDHB):c.402C>T (p.Ile134=)
|
rs759881863
|
0.00001
|
NM_183050.4(BCKDHB):c.43A>C (p.Arg15=)
|
rs781373417
|
0.00001
|
NM_183050.4(BCKDHB):c.478-9G>A
|
rs780452994
|
0.00001
|
NM_183050.4(BCKDHB):c.48G>T (p.Ala16=)
|
rs998893388
|
0.00001
|
NM_183050.4(BCKDHB):c.495C>T (p.Ala165=)
|
rs1174061592
|
0.00001
|
NM_183050.4(BCKDHB):c.522T>C (p.Leu174=)
|
rs1191860809
|
0.00001
|
NM_183050.4(BCKDHB):c.555T>C (p.Pro185=)
|
rs749123579
|
0.00001
|
NM_183050.4(BCKDHB):c.573T>C (p.His191=)
|
rs1280521091
|
0.00001
|
NM_183050.4(BCKDHB):c.615C>T (p.Ala205=)
|
rs760033819
|
0.00001
|
NM_183050.4(BCKDHB):c.636G>A (p.Val212=)
|
rs968957690
|
0.00001
|
NM_183050.4(BCKDHB):c.672T>G (p.Leu224=)
|
rs1488608145
|
0.00001
|
NM_183050.4(BCKDHB):c.676T>C (p.Leu226=)
|
rs1772903772
|
0.00001
|
NM_183050.4(BCKDHB):c.743-14T>C
|
rs747561308
|
0.00001
|
NM_183050.4(BCKDHB):c.841-9T>G
|
rs774698097
|
0.00001
|
NM_183050.4(BCKDHB):c.858G>A (p.Glu286=)
|
rs765019762
|
0.00001
|
NM_183050.4(BCKDHB):c.861A>G (p.Val287=)
|
rs1358699136
|
0.00001
|
NM_183050.4(BCKDHB):c.882G>A (p.Lys294=)
|
rs1354419202
|
0.00001
|
NM_183050.4(BCKDHB):c.90G>A (p.Gly30=)
|
rs553058134
|
0.00001
|
NM_183050.4(BCKDHB):c.9T>A (p.Val3=)
|
rs1373155112
|
0.00001
|
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.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+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.109-16C>T
|
rs2123253546
|
|
NM_000709.4(BCKDHA):c.109-19C>T
|
|
|
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.1113A>G (p.Gln371=)
|
rs2039388745
|
|
NM_000709.4(BCKDHA):c.111C>T (p.His37=)
|
|
|
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+17C>A
|
|
|
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+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.1168-4A>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.1170G>A (p.Val390=)
|
|
|
NM_000709.4(BCKDHA):c.1179C>G (p.Ala393=)
|
rs2122150496
|
|
NM_000709.4(BCKDHA):c.117C>G (p.Pro39=)
|
rs80014754
|
|
NM_000709.4(BCKDHA):c.117C>T (p.Pro39=)
|
|
|
NM_000709.4(BCKDHA):c.1182T>C (p.Phe394=)
|
|
|
NM_000709.4(BCKDHA):c.1194G>A (p.Glu398=)
|
|
|
NM_000709.4(BCKDHA):c.1197G>C (p.Arg399=)
|
rs2122150577
|
|
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.1236G>C (p.Val412=)
|
rs2122150817
|
|
NM_000709.4(BCKDHA):c.123G>A (p.Gln41=)
|
rs2123253682
|
|
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.1281G>C (p.Leu427=)
|
|
|
NM_000709.4(BCKDHA):c.12G>A (p.Ala4=)
|
|
|
NM_000709.4(BCKDHA):c.12G>C (p.Ala4=)
|
rs2123232527
|
|
NM_000709.4(BCKDHA):c.1308G>A (p.Glu436=)
|
rs755138169
|
|
NM_000709.4(BCKDHA):c.1311C>T (p.His437=)
|
|
|
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.138A>T (p.Ser46=)
|
rs1342568998
|
|
NM_000709.4(BCKDHA):c.156C>T (p.Pro52=)
|
|
|
NM_000709.4(BCKDHA):c.15C>A (p.Ile5=)
|
rs17173144
|
|
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.183T>C (p.Phe61=)
|
|
|
NM_000709.4(BCKDHA):c.186A>T (p.Ile62=)
|
rs149251798
|
|
NM_000709.4(BCKDHA):c.198A>G (p.Glu66=)
|
|
|
NM_000709.4(BCKDHA):c.204C>A (p.Ile68=)
|
rs2123253880
|
|
NM_000709.4(BCKDHA):c.210C>T (p.Pro70=)
|
|
|
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.243C>A (p.Val81=)
|
rs2123253975
|
|
NM_000709.4(BCKDHA):c.24G>A (p.Ala8=)
|
rs1348307618
|
|
NM_000709.4(BCKDHA):c.252G>A (p.Arg84=)
|
|
|
NM_000709.4(BCKDHA):c.252G>T (p.Arg84=)
|
rs2123254022
|
|
NM_000709.4(BCKDHA):c.258C>G (p.Gly86=)
|
rs2123254043
|
|
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.291G>A (p.Leu97=)
|
|
|
NM_000709.4(BCKDHA):c.294G>C (p.Pro98=)
|
rs142967869
|
|
NM_000709.4(BCKDHA):c.306G>A (p.Val102=)
|
rs755966459
|
|
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>T (p.Tyr106=)
|
|
|
NM_000709.4(BCKDHA):c.324C>T (p.Ser108=)
|
|
|
NM_000709.4(BCKDHA):c.330A>G (p.Thr110=)
|
|
|
NM_000709.4(BCKDHA):c.336T>A (p.Leu112=)
|
rs150700696
|
|
NM_000709.4(BCKDHA):c.342C>T (p.Thr114=)
|
|
|
NM_000709.4(BCKDHA):c.348C>T (p.Asp116=)
|
rs2123254617
|
|
NM_000709.4(BCKDHA):c.357C>T (p.Leu119=)
|
|
|
NM_000709.4(BCKDHA):c.35G>C (p.Arg12Pro)
|
rs769659202
|
|
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+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.376-20G>C
|
|
|
NM_000709.4(BCKDHA):c.376-8A>T
|
rs398123501
|
|
NM_000709.4(BCKDHA):c.376-9C>T
|
rs555417586
|
|
NM_000709.4(BCKDHA):c.387C>T (p.Ser129=)
|
|
|
NM_000709.4(BCKDHA):c.39A>G (p.Leu13=)
|
|
|
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.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.441C>G (p.Ala147=)
|
rs2039284438
|
|
NM_000709.4(BCKDHA):c.453G>A (p.Thr151=)
|
|
|
NM_000709.4(BCKDHA):c.459G>A (p.Leu153=)
|
|
|
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+7C>T
|
|
|
NM_000709.4(BCKDHA):c.484+7dup
|
|
|
NM_000709.4(BCKDHA):c.484+8_484+11dup
|
rs1489683670
|
|
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.489G>A (p.Val163=)
|
rs2122134466
|
|
NM_000709.4(BCKDHA):c.510C>T (p.Pro170=)
|
|
|
NM_000709.4(BCKDHA):c.519A>G (p.Leu173=)
|
|
|
NM_000709.4(BCKDHA):c.522C>T (p.Phe174=)
|
|
|
NM_000709.4(BCKDHA):c.549T>C (p.Ser183=)
|
rs981398635
|
|
NM_000709.4(BCKDHA):c.567C>T (p.Arg189=)
|
|
|
NM_000709.4(BCKDHA):c.582C>T (p.His194=)
|
|
|
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.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.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>C (p.Ala216=)
|
|
|
NM_000709.4(BCKDHA):c.657G>C (p.Ala219=)
|
|
|
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.675G>T (p.Arg225=)
|
rs2122142848
|
|
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.705C>T (p.Tyr235=)
|
rs2039374030
|
|
NM_000709.4(BCKDHA):c.723C>T (p.Ala241=)
|
rs2122143075
|
|
NM_000709.4(BCKDHA):c.753C>T (p.Asn251=)
|
|
|
NM_000709.4(BCKDHA):c.75G>A (p.Leu25=)
|
rs1599945228
|
|
NM_000709.4(BCKDHA):c.762C>T (p.Ala254=)
|
|
|
NM_000709.4(BCKDHA):c.765A>G (p.Thr255=)
|
rs1305172669
|
|
NM_000709.4(BCKDHA):c.777C>T (p.Pro259=)
|
|
|
NM_000709.4(BCKDHA):c.789C>T (p.Phe263=)
|
|
|
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.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
|
|
|
NM_000709.4(BCKDHA):c.853+13C>T
|
|
|
NM_000709.4(BCKDHA):c.853+19G>A
|
|
|
NM_000709.4(BCKDHA):c.853+19G>T
|
|
|
NM_000709.4(BCKDHA):c.853+20C>T
|
|
|
NM_000709.4(BCKDHA):c.853+8C>T
|
|
|
NM_000709.4(BCKDHA):c.854-14C>G
|
rs372967761
|
|
NM_000709.4(BCKDHA):c.854-14_854-13del
|
|
|
NM_000709.4(BCKDHA):c.854-16C>T
|
|
|
NM_000709.4(BCKDHA):c.854-8C>T
|
|
|
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.918A>C (p.Val306=)
|
|
|
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.963C>T (p.Asn321=)
|
rs2122145204
|
|
NM_000709.4(BCKDHA):c.978C>A (p.Ile326=)
|
rs398123514
|
|
NM_000709.4(BCKDHA):c.981G>A (p.Glu327=)
|
|
|
NM_000709.4(BCKDHA):c.990C>A (p.Thr330=)
|
rs1213059681
|
|
NM_000709.4(BCKDHA):c.990C>T (p.Thr330=)
|
|
|
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+20T>C
|
|
|
NM_000709.4(BCKDHA):c.995+8C>T
|
rs886054462
|
|
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.996-20G>A
|
|
|
NM_000709.4(BCKDHA):c.996-21_996-14del
|
|
|
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
|
|
NM_001918.5(DBT):c.*2619G>A
|
rs541064624
|
|
NM_001918.5(DBT):c.*2633AAAT[7]
|
rs773873766
|
|
NM_001918.5(DBT):c.*3869del
|
rs141830881
|
|
NM_001918.5(DBT):c.1014T>C (p.Tyr338=)
|
|
|
NM_001918.5(DBT):c.1017+10G>A
|
|
|
NM_001918.5(DBT):c.1017+11C>G
|
|
|
NM_001918.5(DBT):c.1017+15G>A
|
|
|
NM_001918.5(DBT):c.1017+16T>A
|
|
|
NM_001918.5(DBT):c.1018-15T>C
|
|
|
NM_001918.5(DBT):c.1018-16A>T
|
|
|
NM_001918.5(DBT):c.1018-17A>G
|
|
|
NM_001918.5(DBT):c.1018-4T>C
|
|
|
NM_001918.5(DBT):c.1018-7T>G
|
rs2100780347
|
|
NM_001918.5(DBT):c.1018-9A>G
|
rs2100780356
|
|
NM_001918.5(DBT):c.1018-9del
|
rs2100780359
|
|
NM_001918.5(DBT):c.1032T>C (p.Ile344=)
|
|
|
NM_001918.5(DBT):c.1056G>A (p.Gln352=)
|
rs2100780252
|
|
NM_001918.5(DBT):c.1065T>A (p.Ile355=)
|
|
|
NM_001918.5(DBT):c.1068C>T (p.Val356=)
|
|
|
NM_001918.5(DBT):c.1077G>A (p.Val359=)
|
|
|
NM_001918.5(DBT):c.1089G>A (p.Gln363=)
|
rs2100780197
|
|
NM_001918.5(DBT):c.1098T>G (p.Ser366=)
|
rs1422504862
|
|
NM_001918.5(DBT):c.1107C>T (p.Asp369=)
|
rs2100780132
|
|
NM_001918.5(DBT):c.1116T>C (p.Thr372=)
|
|
|
NM_001918.5(DBT):c.1131C>T (p.Leu377=)
|
rs1661802261
|
|
NM_001918.5(DBT):c.1140G>A (p.Leu380=)
|
rs2100780071
|
|
NM_001918.5(DBT):c.1152T>C (p.Ser384=)
|
rs2100780004
|
|
NM_001918.5(DBT):c.1158C>G (p.Leu386=)
|
rs139943180
|
|
NM_001918.5(DBT):c.1173T>C (p.Leu391=)
|
|
|
NM_001918.5(DBT):c.1185A>T (p.Thr395=)
|
|
|
NM_001918.5(DBT):c.1191T>A (p.Thr397=)
|
rs2100779891
|
|
NM_001918.5(DBT):c.1191T>C (p.Thr397=)
|
rs2100779891
|
|
NM_001918.5(DBT):c.1200C>T (p.Asn400=)
|
|
|
NM_001918.5(DBT):c.1209+9T>C
|
|
|
NM_001918.5(DBT):c.1209+9_1209+10dup
|
|
|
NM_001918.5(DBT):c.120T>C (p.Phe40=)
|
|
|
NM_001918.5(DBT):c.1210-12T>A
|
|
|
NM_001918.5(DBT):c.1210-12T>G
|
|
|
NM_001918.5(DBT):c.1210-8_1210-7insT
|
|
|
NM_001918.5(DBT):c.1210-9_1210-8insTT
|
|
|
NM_001918.5(DBT):c.1210-9_1210-8inv
|
|
|
NM_001918.5(DBT):c.1212T>C (p.Ile404=)
|
|
|
NM_001918.5(DBT):c.1215T>C (p.Gly405=)
|
|
|
NM_001918.5(DBT):c.1221C>T (p.Thr407=)
|
|
|
NM_001918.5(DBT):c.1227C>T (p.Ala409=)
|
|
|
NM_001918.5(DBT):c.123T>C (p.Gly41=)
|
rs2100844658
|
|
NM_001918.5(DBT):c.1245A>G (p.Pro415=)
|
|
|
NM_001918.5(DBT):c.1248T>C (p.Pro416=)
|
rs2100779369
|
|
NM_001918.5(DBT):c.1260T>C (p.Ile420=)
|
|
|
NM_001918.5(DBT):c.1275A>G (p.Ser425=)
|
rs1570806049
|
|
NM_001918.5(DBT):c.1281+10T>C
|
rs2100779244
|
|
NM_001918.5(DBT):c.1281+13G>A
|
|
|
NM_001918.5(DBT):c.1281+18C>T
|
|
|
NM_001918.5(DBT):c.1281+8_1281+20del
|
|
|
NM_001918.5(DBT):c.1281+9A>G
|
|
|
NM_001918.5(DBT):c.1282-10_1282-9dup
|
|
|
NM_001918.5(DBT):c.1282-11_1282-9del
|
|
|
NM_001918.5(DBT):c.1282-12_1282-9del
|
rs1557939390
|
|
NM_001918.5(DBT):c.1282-13T>A
|
rs1374973220
|
|
NM_001918.5(DBT):c.1282-13T>C
|
|
|
NM_001918.5(DBT):c.1282-14T>A
|
rs1315625069
|
|
NM_001918.5(DBT):c.1282-14_1282-10del
|
rs752915898
|
|
NM_001918.5(DBT):c.1282-15T>A
|
rs763988935
|
|
NM_001918.5(DBT):c.1282-15_1282-9del
|
rs1557939402
|
|
NM_001918.5(DBT):c.1282-16T>A
|
|
|
NM_001918.5(DBT):c.1282-16T>C
|
|
|
NM_001918.5(DBT):c.1282-16_1282-9del
|
|
|
NM_001918.5(DBT):c.1282-18T>C
|
|
|
NM_001918.5(DBT):c.1282-19T>C
|
|
|
NM_001918.5(DBT):c.1282-20T>C
|
|
|
NM_001918.5(DBT):c.1282-20_1282-10del
|
rs752915898
|
|
NM_001918.5(DBT):c.1282-21_1282-10del
|
rs752915898
|
|
NM_001918.5(DBT):c.1282-21_1282-10dup
|
rs752915898
|
|
NM_001918.5(DBT):c.1282-22_1282-10del
|
|
|
NM_001918.5(DBT):c.1282-23_1282-10del
|
rs752915898
|
|
NM_001918.5(DBT):c.1282-24_1282-10del
|
rs752915898
|
|
NM_001918.5(DBT):c.1282-25_1282-10del
|
rs752915898
|
|
NM_001918.5(DBT):c.1282-26_1282-10del
|
rs752915898
|
|
NM_001918.5(DBT):c.1282-4C>A
|
rs1410431336
|
|
NM_001918.5(DBT):c.1282-4C>T
|
rs1410431336
|
|
NM_001918.5(DBT):c.1282-7T>C
|
|
|
NM_001918.5(DBT):c.1282-8A>G
|
rs764781766
|
|
NM_001918.5(DBT):c.1282-9C>A
|
rs1404199687
|
|
NM_001918.5(DBT):c.1282-9dup
|
|
|
NM_001918.5(DBT):c.129T>G (p.Pro43=)
|
|
|
NM_001918.5(DBT):c.1309G>A (p.Glu437Lys)
|
rs772490888
|
|
NM_001918.5(DBT):c.1314A>G (p.Val438=)
|
|
|
NM_001918.5(DBT):c.1317T>C (p.Tyr439=)
|
rs2100761130
|
|
NM_001918.5(DBT):c.1347A>G (p.Ser449=)
|
|
|
NM_001918.5(DBT):c.1383A>C (p.Ser461=)
|
rs2100760925
|
|
NM_001918.5(DBT):c.1389C>T (p.Phe463=)
|
rs886044964
|
|
NM_001918.5(DBT):c.138G>A (p.Lys46=)
|
|
|
NM_001918.5(DBT):c.1398G>A (p.Leu466=)
|
rs1661085210
|
|
NM_001918.5(DBT):c.1407C>G (p.Ser469=)
|
rs2100760846
|
|
NM_001918.5(DBT):c.1410T>C (p.Tyr470=)
|
rs2100760833
|
|
NM_001918.5(DBT):c.1419C>T (p.Asn473=)
|
|
|
NM_001918.5(DBT):c.1441C>T (p.Leu481=)
|
|
|
NM_001918.5(DBT):c.159C>T (p.Phe53=)
|
rs772209054
|
|
NM_001918.5(DBT):c.175+10A>G
|
|
|
NM_001918.5(DBT):c.175+16A>G
|
|
|
NM_001918.5(DBT):c.175+7A>T
|
|
|
NM_001918.5(DBT):c.176-15C>G
|
|
|
NM_001918.5(DBT):c.176-15C>T
|
|
|
NM_001918.5(DBT):c.207C>G (p.Leu69=)
|
|
|
NM_001918.5(DBT):c.207C>T (p.Leu69=)
|
|
|
NM_001918.5(DBT):c.225G>A (p.Gly75=)
|
rs2100834832
|
|
NM_001918.5(DBT):c.228T>C (p.Ile76=)
|
|
|
NM_001918.5(DBT):c.243T>G (p.Val81=)
|
|
|
NM_001918.5(DBT):c.246A>G (p.Lys82=)
|
|
|
NM_001918.5(DBT):c.251+15A>G
|
|
|
NM_001918.5(DBT):c.251+17A>G
|
|
|
NM_001918.5(DBT):c.251+18A>G
|
|
|
NM_001918.5(DBT):c.251+8A>T
|
|
|
NM_001918.5(DBT):c.251+9A>G
|
|
|
NM_001918.5(DBT):c.252-12T>G
|
|
|
NM_001918.5(DBT):c.252-8T>C
|
rs2100827755
|
|
NM_001918.5(DBT):c.258A>G (p.Val86=)
|
|
|
NM_001918.5(DBT):c.264A>G (p.Glu88=)
|
rs1557956728
|
|
NM_001918.5(DBT):c.273A>C (p.Thr91=)
|
rs2100827682
|
|
NM_001918.5(DBT):c.273A>G (p.Thr91=)
|
|
|
NM_001918.5(DBT):c.282G>A (p.Gln94=)
|
rs2100827660
|
|
NM_001918.5(DBT):c.288T>C (p.Asp96=)
|
|
|
NM_001918.5(DBT):c.300A>G (p.Glu100=)
|
rs772023545
|
|
NM_001918.5(DBT):c.321T>A (p.Ser107=)
|
|
|
NM_001918.5(DBT):c.333T>C (p.Thr111=)
|
|
|
NM_001918.5(DBT):c.336T>C (p.Ser112=)
|
rs1254104594
|
|
NM_001918.5(DBT):c.342T>C (p.Tyr114=)
|
rs1207748719
|
|
NM_001918.5(DBT):c.351C>T (p.Val117=)
|
rs767953425
|
|
NM_001918.5(DBT):c.366T>C (p.Tyr122=)
|
|
|
NM_001918.5(DBT):c.369T>C (p.Tyr123=)
|
rs2100827345
|
|
NM_001918.5(DBT):c.36G>A (p.Arg12=)
|
rs147775797
|
|
NM_001918.5(DBT):c.384T>C (p.Ile128=)
|
rs918466852
|
|
NM_001918.5(DBT):c.39T>C (p.Asn13=)
|
rs1431500513
|
|
NM_001918.5(DBT):c.408A>G (p.Val136=)
|
rs528365976
|
|
NM_001918.5(DBT):c.427T>C (p.Leu143=)
|
rs2100827179
|
|
NM_001918.5(DBT):c.42G>C (p.Ala14=)
|
|
|
NM_001918.5(DBT):c.42G>T (p.Ala14=)
|
rs758610837
|
|
NM_001918.5(DBT):c.433+10G>A
|
rs1024314250
|
|
NM_001918.5(DBT):c.433+10G>C
|
rs1024314250
|
|
NM_001918.5(DBT):c.433+13T>G
|
|
|
NM_001918.5(DBT):c.433+17A>C
|
|
|
NM_001918.5(DBT):c.433+7dup
|
rs2100827150
|
|
NM_001918.5(DBT):c.434-11C>T
|
|
|
NM_001918.5(DBT):c.434-14T>C
|
|
|
NM_001918.5(DBT):c.434-17T>G
|
|
|
NM_001918.5(DBT):c.434-4C>T
|
|
|
NM_001918.5(DBT):c.465A>C (p.Ala155=)
|
|
|
NM_001918.5(DBT):c.474T>C (p.His158=)
|
rs2100804457
|
|
NM_001918.5(DBT):c.480A>G (p.Glu160=)
|
|
|
NM_001918.5(DBT):c.483T>C (p.His161=)
|
rs2100804431
|
|
NM_001918.5(DBT):c.501G>A (p.Lys167=)
|
|
|
NM_001918.5(DBT):c.51+11T>C
|
|
|
NM_001918.5(DBT):c.51+13_51+14insT
|
|
|
NM_001918.5(DBT):c.51+14G>C
|
|
|
NM_001918.5(DBT):c.51+18G>C
|
|
|
NM_001918.5(DBT):c.51+18G>T
|
|
|
NM_001918.5(DBT):c.51+7A>G
|
|
|
NM_001918.5(DBT):c.510A>G (p.Lys170=)
|
rs1570820389
|
|
NM_001918.5(DBT):c.514C>T (p.Leu172=)
|
rs1344704881
|
|
NM_001918.5(DBT):c.52-10T>G
|
|
|
NM_001918.5(DBT):c.52-18T>G
|
rs1052822218
|
|
NM_001918.5(DBT):c.52-48_52-45delinsTAC
|
rs1553233176
|
|
NM_001918.5(DBT):c.52-4G>A
|
rs2100844854
|
|
NM_001918.5(DBT):c.52-5T>C
|
|
|
NM_001918.5(DBT):c.52-6del
|
rs2100844868
|
|
NM_001918.5(DBT):c.52-9C>T
|
|
|
NM_001918.5(DBT):c.528A>G (p.Ala176=)
|
|
|
NM_001918.5(DBT):c.537T>C (p.Arg179=)
|
|
|
NM_001918.5(DBT):c.549A>G (p.Glu183=)
|
rs2100804264
|
|
NM_001918.5(DBT):c.54T>C (p.Ile18=)
|
rs1171616529
|
|
NM_001918.5(DBT):c.555+8C>A
|
rs548611008
|
|
NM_001918.5(DBT):c.555+8C>T
|
|
|
NM_001918.5(DBT):c.556-12A>G
|
|
|
NM_001918.5(DBT):c.556-14A>G
|
|
|
NM_001918.5(DBT):c.556-5T>C
|
|
|
NM_001918.5(DBT):c.576T>C (p.Val192=)
|
|
|
NM_001918.5(DBT):c.579C>T (p.Gly193=)
|
|
|
NM_001918.5(DBT):c.630A>G (p.Glu210=)
|
|
|
NM_001918.5(DBT):c.63C>G (p.Arg21=)
|
|
|
NM_001918.5(DBT):c.641_643del (p.Gly214del)
|
rs1553230840
|
|
NM_001918.5(DBT):c.642A>C (p.Gly214=)
|
|
|
NM_001918.5(DBT):c.645T>G (p.Ala215=)
|
|
|
NM_001918.5(DBT):c.663C>T (p.Pro221=)
|
rs1662468729
|
|
NM_001918.5(DBT):c.666A>G (p.Lys222=)
|
|
|
NM_001918.5(DBT):c.696A>G (p.Pro232=)
|
rs2100799691
|
|
NM_001918.5(DBT):c.6T>A (p.Ala2=)
|
rs1240475402
|
|
NM_001918.5(DBT):c.6T>G (p.Ala2=)
|
rs1240475402
|
|
NM_001918.5(DBT):c.702C>T (p.Asp234=)
|
|
|
NM_001918.5(DBT):c.714T>C (p.Pro238=)
|
|
|
NM_001918.5(DBT):c.735G>A (p.Pro245=)
|
|
|
NM_001918.5(DBT):c.741C>T (p.Phe247=)
|
|
|
NM_001918.5(DBT):c.744A>C (p.Thr248=)
|
rs765082016
|
|
NM_001918.5(DBT):c.747C>G (p.Gly249=)
|
rs200612682
|
|
NM_001918.5(DBT):c.75A>T (p.Thr25=)
|
|
|
NM_001918.5(DBT):c.772+11T>C
|
|
|
NM_001918.5(DBT):c.772+17C>G
|
|
|
NM_001918.5(DBT):c.772+17_772+19del
|
|
|
NM_001918.5(DBT):c.772+19A>G
|
|
|
NM_001918.5(DBT):c.772+7A>G
|
|
|
NM_001918.5(DBT):c.772+8T>C
|
|
|
NM_001918.5(DBT):c.772+8TAA[2]
|
|
|
NM_001918.5(DBT):c.772+9A>G
|
rs2100799392
|
|
NM_001918.5(DBT):c.773-14T>G
|
|
|
NM_001918.5(DBT):c.773-4T>C
|
|
|
NM_001918.5(DBT):c.792C>G (p.Val264=)
|
rs2100797477
|
|
NM_001918.5(DBT):c.799A>T (p.Met267Leu)
|
|
|
NM_001918.5(DBT):c.804T>A (p.Ser268=)
|
rs1283378890
|
|
NM_001918.5(DBT):c.804T>C (p.Ser268=)
|
rs1283378890
|
|
NM_001918.5(DBT):c.813G>A (p.Leu271=)
|
|
|
NM_001918.5(DBT):c.831T>C (p.Gly277=)
|
rs2100797397
|
|
NM_001918.5(DBT):c.834T>C (p.Tyr278=)
|
rs2100797369
|
|
NM_001918.5(DBT):c.849C>T (p.Asp283=)
|
|
|
NM_001918.5(DBT):c.84T>C (p.Asn28=)
|
|
|
NM_001918.5(DBT):c.855T>C (p.Thr285=)
|
|
|
NM_001918.5(DBT):c.861G>A (p.Leu287=)
|
|
|
NM_001918.5(DBT):c.870C>T (p.Leu290=)
|
|
|
NM_001918.5(DBT):c.876A>G (p.Glu292=)
|
|
|
NM_001918.5(DBT):c.87T>A (p.Val29=)
|
rs2100844766
|
|
NM_001918.5(DBT):c.891T>C (p.Ile297=)
|
rs1184322880
|
|
NM_001918.5(DBT):c.894A>C (p.Ala298=)
|
|
|
NM_001918.5(DBT):c.897T>C (p.Phe299=)
|
rs2100797177
|
|
NM_001918.5(DBT):c.903T>C (p.Arg301=)
|
|
|
NM_001918.5(DBT):c.915C>T (p.Leu305=)
|
rs2100797139
|
|
NM_001918.5(DBT):c.933C>T (p.Phe311=)
|
rs2100797103
|
|
NM_001918.5(DBT):c.936A>G (p.Leu312=)
|
|
|
NM_001918.5(DBT):c.939+10A>G
|
rs1450707467
|
|
NM_001918.5(DBT):c.939+13C>G
|
|
|
NM_001918.5(DBT):c.939+7T>C
|
|
|
NM_001918.5(DBT):c.940-10T>C
|
rs1306548973
|
|
NM_001918.5(DBT):c.940-17C>A
|
|
|
NM_001918.5(DBT):c.940-18T>G
|
rs2100788572
|
|
NM_001918.5(DBT):c.940-4A>C
|
|
|
NM_001918.5(DBT):c.940-5A>C
|
rs1296647053
|
|
NM_001918.5(DBT):c.940-7T>C
|
rs2100788531
|
|
NM_001918.5(DBT):c.940-7del
|
rs2100788542
|
|
NM_001918.5(DBT):c.940-9G>T
|
|
|
NM_001918.5(DBT):c.945T>C (p.Ala315=)
|
rs2100788485
|
|
NM_001918.5(DBT):c.960A>G (p.Leu320=)
|
rs2100788475
|
|
NM_001918.5(DBT):c.963G>A (p.Gln321=)
|
rs762063921
|
|
NM_001918.5(DBT):c.990T>C (p.Asp330=)
|
rs2100788342
|
|
NM_001918.5(DBT):c.99G>A (p.Lys33=)
|
rs2100844736
|
|
NM_001918.5(DBT):c.9A>T (p.Ala3=)
|
rs772869478
|
|
NM_183050.4(BCKDHB):c.*263C>A
|
rs533006469
|
|
NM_183050.4(BCKDHB):c.1002A>G (p.Thr334=)
|
rs2127965195
|
|
NM_183050.4(BCKDHB):c.1005C>A (p.Gly335=)
|
rs1562193967
|
|
NM_183050.4(BCKDHB):c.1014A>G (p.Ala338=)
|
rs904277226
|
|
NM_183050.4(BCKDHB):c.1029T>C (p.Ser343=)
|
|
|
NM_183050.4(BCKDHB):c.102C>T (p.Gly34=)
|
rs1294903760
|
|
NM_183050.4(BCKDHB):c.1032A>G (p.Thr344=)
|
rs148902222
|
|
NM_183050.4(BCKDHB):c.1038+20T>C
|
|
|
NM_183050.4(BCKDHB):c.1038+20T>G
|
|
|
NM_183050.4(BCKDHB):c.1038+8A>T
|
rs1777830129
|
|
NM_183050.4(BCKDHB):c.1039-13A>C
|
|
|
NM_183050.4(BCKDHB):c.1039-15T>C
|
|
|
NM_183050.4(BCKDHB):c.1039-17C>A
|
|
|
NM_183050.4(BCKDHB):c.1039-5T>C
|
rs879095937
|
|
NM_183050.4(BCKDHB):c.1041G>A (p.Glu347=)
|
rs2128020526
|
|
NM_183050.4(BCKDHB):c.1059A>G (p.Leu353=)
|
rs1770035632
|
|
NM_183050.4(BCKDHB):c.1062G>A (p.Glu354=)
|
|
|
NM_183050.4(BCKDHB):c.1068T>C (p.Pro356=)
|
rs1582600488
|
|
NM_183050.4(BCKDHB):c.1092C>T (p.Asp364=)
|
rs2128020582
|
|
NM_183050.4(BCKDHB):c.1095A>G (p.Thr365=)
|
rs2128020590
|
|
NM_183050.4(BCKDHB):c.1107C>T (p.His369=)
|
rs1582600540
|
|
NM_183050.4(BCKDHB):c.1119A>G (p.Pro373=)
|
|
|
NM_183050.4(BCKDHB):c.1128C>T (p.Ile376=)
|
rs1035866627
|
|
NM_183050.4(BCKDHB):c.1137A>G (p.Lys379=)
|
|
|
NM_183050.4(BCKDHB):c.1149T>C (p.Tyr383=)
|
|
|
NM_183050.4(BCKDHB):c.114C>T (p.Pro38=)
|
|
|
NM_183050.4(BCKDHB):c.117C>T (p.Ala39=)
|
rs767901122
|
|
NM_183050.4(BCKDHB):c.120G>A (p.Ala40=)
|
rs2127699065
|
|
NM_183050.4(BCKDHB):c.120G>T (p.Ala40=)
|
rs2127699065
|
|
NM_183050.4(BCKDHB):c.123T>G (p.Thr41=)
|
|
|
NM_183050.4(BCKDHB):c.126C>G (p.Val42=)
|
rs2127699088
|
|
NM_183050.4(BCKDHB):c.12A>G (p.Val4=)
|
rs2127698647
|
|
NM_183050.4(BCKDHB):c.135G>A (p.Ala45=)
|
rs777673541
|
|
NM_183050.4(BCKDHB):c.138C>T (p.Ala46=)
|
|
|
NM_183050.4(BCKDHB):c.141G>A (p.Gln47=)
|
|
|
NM_183050.4(BCKDHB):c.144_145delinsAA (p.Arg48_Arg49=)
|
rs2127699136
|
|
NM_183050.4(BCKDHB):c.145C>A (p.Arg49=)
|
|
|
NM_183050.4(BCKDHB):c.15G>A (p.Ala5=)
|
rs772066588
|
|
NM_183050.4(BCKDHB):c.15G>C (p.Ala5=)
|
rs772066588
|
|
NM_183050.4(BCKDHB):c.165T>G (p.Thr55=)
|
rs2127699201
|
|
NM_183050.4(BCKDHB):c.174A>G (p.Pro58=)
|
rs1769093743
|
|
NM_183050.4(BCKDHB):c.18G>A (p.Ala6=)
|
rs2127698696
|
|
NM_183050.4(BCKDHB):c.18G>C (p.Ala6=)
|
rs2127698696
|
|
NM_183050.4(BCKDHB):c.18G>T (p.Ala6=)
|
rs2127698696
|
|
NM_183050.4(BCKDHB):c.196+10G>A
|
rs2127699369
|
|
NM_183050.4(BCKDHB):c.196+10G>C
|
|
|
NM_183050.4(BCKDHB):c.196+11G>A
|
|
|
NM_183050.4(BCKDHB):c.196+13A>G
|
|
|
NM_183050.4(BCKDHB):c.196+20A>T
|
|
|
NM_183050.4(BCKDHB):c.196+7C>T
|
rs753090498
|
|
NM_183050.4(BCKDHB):c.196+8C>G
|
rs1337392511
|
|
NM_183050.4(BCKDHB):c.197-11G>A
|
|
|
NM_183050.4(BCKDHB):c.197-15_197-14insA
|
|
|
NM_183050.4(BCKDHB):c.197-5C>T
|
rs1374556799
|
|
NM_183050.4(BCKDHB):c.21T>A (p.Ala7=)
|
|
|
NM_183050.4(BCKDHB):c.228T>A (p.Ser76=)
|
rs761814478
|
|
NM_183050.4(BCKDHB):c.241T>C (p.Leu81=)
|
|
|
NM_183050.4(BCKDHB):c.24C>A (p.Ala8=)
|
rs558448066
|
|
NM_183050.4(BCKDHB):c.24C>G (p.Ala8=)
|
rs558448066
|
|
NM_183050.4(BCKDHB):c.253T>C (p.Leu85=)
|
rs780890874
|
|
NM_183050.4(BCKDHB):c.25G>A (p.Gly9Ser)
|
rs571728255
|
|
NM_183050.4(BCKDHB):c.267T>C (p.Pro89=)
|
rs1582191955
|
|
NM_183050.4(BCKDHB):c.267T>G (p.Pro89=)
|
|
|
NM_183050.4(BCKDHB):c.270T>C (p.Thr90=)
|
|
|
NM_183050.4(BCKDHB):c.274+10A>T
|
rs2127726226
|
|
NM_183050.4(BCKDHB):c.274+13T>C
|
|
|
NM_183050.4(BCKDHB):c.274+7C>T
|
rs771730316
|
|
NM_183050.4(BCKDHB):c.274+8T>C
|
|
|
NM_183050.4(BCKDHB):c.275-10T>C
|
rs2127727828
|
|
NM_183050.4(BCKDHB):c.275-12A>C
|
|
|
NM_183050.4(BCKDHB):c.275-16A>C
|
|
|
NM_183050.4(BCKDHB):c.275-17T>C
|
|
|
NM_183050.4(BCKDHB):c.275-20A>C
|
|
|
NM_183050.4(BCKDHB):c.275-20A>G
|
|
|
NM_183050.4(BCKDHB):c.275-5T>C
|
|
|
NM_183050.4(BCKDHB):c.275-8T>G
|
|
|
NM_183050.4(BCKDHB):c.275-9G>A
|
|
|
NM_183050.4(BCKDHB):c.27C>G (p.Gly9=)
|
rs1024423494
|
|
NM_183050.4(BCKDHB):c.285T>C (p.Gly95=)
|
rs2127727865
|
|
NM_183050.4(BCKDHB):c.312T>C (p.Phe104=)
|
rs745368116
|
|
NM_183050.4(BCKDHB):c.315A>G (p.Arg105=)
|
rs1770499965
|
|
NM_183050.4(BCKDHB):c.31C>T (p.Leu11=)
|
|
|
NM_183050.4(BCKDHB):c.321T>C (p.Thr107=)
|
|
|
NM_183050.4(BCKDHB):c.331C>A (p.Arg111=)
|
rs371117671
|
|
NM_183050.4(BCKDHB):c.333A>G (p.Arg111=)
|
rs1582194998
|
|
NM_183050.4(BCKDHB):c.336C>T (p.Asp112=)
|
|
|
NM_183050.4(BCKDHB):c.33A>C (p.Leu11=)
|
|
|
NM_183050.4(BCKDHB):c.33A>G (p.Leu11=)
|
|
|
NM_183050.4(BCKDHB):c.33A>T (p.Leu11=)
|
rs755140913
|
|
NM_183050.4(BCKDHB):c.343+16T>C
|
|
|
NM_183050.4(BCKDHB):c.343+17A>G
|
|
|
NM_183050.4(BCKDHB):c.344-19T>C
|
|
|
NM_183050.4(BCKDHB):c.344-4T>G
|
rs2127773306
|
|
NM_183050.4(BCKDHB):c.344-7T>C
|
rs1562102564
|
|
NM_183050.4(BCKDHB):c.360T>C (p.Phe120=)
|
rs770355362
|
|
NM_183050.4(BCKDHB):c.369A>G (p.Pro123=)
|
rs891015474
|
|
NM_183050.4(BCKDHB):c.370T>C (p.Leu124=)
|
rs2127773376
|
|
NM_183050.4(BCKDHB):c.372G>A (p.Leu124=)
|
|
|
NM_183050.4(BCKDHB):c.378A>G (p.Glu126=)
|
rs770996331
|
|
NM_183050.4(BCKDHB):c.39G>A (p.Arg13=)
|
|
|
NM_183050.4(BCKDHB):c.420A>C (p.Gly140=)
|
|
|
NM_183050.4(BCKDHB):c.426T>C (p.Thr142=)
|
|
|
NM_183050.4(BCKDHB):c.426T>G (p.Thr142=)
|
|
|
NM_183050.4(BCKDHB):c.429C>A (p.Ala143=)
|
rs1582272242
|
|
NM_183050.4(BCKDHB):c.429C>T (p.Ala143=)
|
rs1582272242
|
|
NM_183050.4(BCKDHB):c.42C>T (p.Leu14=)
|
rs2127698794
|
|
NM_183050.4(BCKDHB):c.432T>C (p.Ile144=)
|
rs2127773487
|
|
NM_183050.4(BCKDHB):c.435G>T (p.Ala145=)
|
rs370267903
|
|
NM_183050.4(BCKDHB):c.468A>C (p.Ala156=)
|
|
|
NM_183050.4(BCKDHB):c.468A>G (p.Ala156=)
|
|
|
NM_183050.4(BCKDHB):c.474T>C (p.Asp158=)
|
rs2127773553
|
|
NM_183050.4(BCKDHB):c.477+10T>A
|
|
|
NM_183050.4(BCKDHB):c.477+13A>G
|
|
|
NM_183050.4(BCKDHB):c.477+14C>A
|
|
|
NM_183050.4(BCKDHB):c.477+15_477+16insAA
|
|
|
NM_183050.4(BCKDHB):c.477+19C>G
|
|
|
NM_183050.4(BCKDHB):c.477+20T>G
|
|
|
NM_183050.4(BCKDHB):c.477+7G>A
|
rs2127773561
|
|
NM_183050.4(BCKDHB):c.478-11C>G
|
|
|
NM_183050.4(BCKDHB):c.478-13_478-10del
|
|
|
NM_183050.4(BCKDHB):c.478-15C>G
|
|
|
NM_183050.4(BCKDHB):c.478-15C>T
|
rs772227275
|
|
NM_183050.4(BCKDHB):c.478-16T>G
|
|
|
NM_183050.4(BCKDHB):c.478-17T>C
|
|
|
NM_183050.4(BCKDHB):c.478-19C>G
|
|
|
NM_183050.4(BCKDHB):c.478-4T>G
|
|
|
NM_183050.4(BCKDHB):c.478-6C>T
|
rs879247086
|
|
NM_183050.4(BCKDHB):c.483T>C (p.Val161=)
|
rs2127775341
|
|
NM_183050.4(BCKDHB):c.48G>A (p.Ala16=)
|
|
|
NM_183050.4(BCKDHB):c.48G>C (p.Ala16=)
|
rs998893388
|
|
NM_183050.4(BCKDHB):c.498G>A (p.Lys166=)
|
|
|
NM_183050.4(BCKDHB):c.501T>C (p.Tyr167=)
|
|
|
NM_183050.4(BCKDHB):c.504C>T (p.Arg168=)
|
rs770906360
|
|
NM_183050.4(BCKDHB):c.507T>C (p.Tyr169=)
|
rs2127775476
|
|
NM_183050.4(BCKDHB):c.510C>T (p.Arg170=)
|
|
|
NM_183050.4(BCKDHB):c.516G>A (p.Gly172=)
|
rs2127775531
|
|
NM_183050.4(BCKDHB):c.51A>C (p.Ala17=)
|
rs376293687
|
|
NM_183050.4(BCKDHB):c.51A>G (p.Ala17=)
|
rs376293687
|
|
NM_183050.4(BCKDHB):c.525T>C (p.Phe175=)
|
rs2127775566
|
|
NM_183050.4(BCKDHB):c.534A>G (p.Gly178=)
|
rs1582275612
|
|
NM_183050.4(BCKDHB):c.537C>T (p.Ser179=)
|
rs1260482947
|
|
NM_183050.4(BCKDHB):c.540C>T (p.Leu180=)
|
|
|
NM_183050.4(BCKDHB):c.546C>T (p.Ile182=)
|
|
|
NM_183050.4(BCKDHB):c.549G>C (p.Arg183=)
|
|
|
NM_183050.4(BCKDHB):c.549G>T (p.Arg183=)
|
|
|
NM_183050.4(BCKDHB):c.552C>T (p.Ser184=)
|
|
|
NM_183050.4(BCKDHB):c.555T>A (p.Pro185=)
|
rs749123579
|
|
NM_183050.4(BCKDHB):c.561C>T (p.Gly187=)
|
|
|
NM_183050.4(BCKDHB):c.576G>A (p.Gly192=)
|
rs2127775867
|
|
NM_183050.4(BCKDHB):c.582C>G (p.Leu194=)
|
rs1772747208
|
|
NM_183050.4(BCKDHB):c.591T>A (p.Ser197=)
|
|
|
NM_183050.4(BCKDHB):c.600T>G (p.Pro200=)
|
rs1031182895
|
|
NM_183050.4(BCKDHB):c.633+14T>C
|
|
|
NM_183050.4(BCKDHB):c.633+15G>A
|
|
|
NM_183050.4(BCKDHB):c.634-10G>A
|
rs2127779093
|
|
NM_183050.4(BCKDHB):c.634-12C>A
|
|
|
NM_183050.4(BCKDHB):c.634-13T>C
|
|
|
NM_183050.4(BCKDHB):c.634-16A>C
|
|
|
NM_183050.4(BCKDHB):c.634-20A>T
|
|
|
NM_183050.4(BCKDHB):c.634-4G>C
|
|
|
NM_183050.4(BCKDHB):c.634-6T>C
|
rs1332095038
|
|
NM_183050.4(BCKDHB):c.63G>C (p.Gly21=)
|
rs368345065
|
|
NM_183050.4(BCKDHB):c.645C>T (p.Pro215=)
|
|
|
NM_183050.4(BCKDHB):c.651C>T (p.Ser217=)
|
rs1220450249
|
|
NM_183050.4(BCKDHB):c.657C>T (p.Phe219=)
|
rs2127779150
|
|
NM_183050.4(BCKDHB):c.678G>A (p.Leu226=)
|
rs2127779199
|
|
NM_183050.4(BCKDHB):c.681A>G (p.Ser227=)
|
|
|
NM_183050.4(BCKDHB):c.699T>C (p.Asn233=)
|
|
|
NM_183050.4(BCKDHB):c.6G>A (p.Ala2=)
|
rs2127698622
|
|
NM_183050.4(BCKDHB):c.6G>T (p.Ala2=)
|
rs2127698622
|
|
NM_183050.4(BCKDHB):c.702T>C (p.Pro234=)
|
|
|
NM_183050.4(BCKDHB):c.702T>G (p.Pro234=)
|
|
|
NM_183050.4(BCKDHB):c.705T>C (p.Cys235=)
|
|
|
NM_183050.4(BCKDHB):c.708A>C (p.Ile236=)
|
|
|
NM_183050.4(BCKDHB):c.72T>G (p.Arg24=)
|
rs2127698878
|
|
NM_183050.4(BCKDHB):c.742+12C>A
|
|
|
NM_183050.4(BCKDHB):c.742+17T>G
|
|
|
NM_183050.4(BCKDHB):c.742+18T>G
|
|
|
NM_183050.4(BCKDHB):c.742+8T>C
|
|
|
NM_183050.4(BCKDHB):c.742+9T>G
|
rs2127779389
|
|
NM_183050.4(BCKDHB):c.743-12T>C
|
|
|
NM_183050.4(BCKDHB):c.743-15C>G
|
|
|
NM_183050.4(BCKDHB):c.743-15C>T
|
|
|
NM_183050.4(BCKDHB):c.743-15del
|
rs749321740
|
|
NM_183050.4(BCKDHB):c.743-17T>A
|
|
|
NM_183050.4(BCKDHB):c.743-18T>C
|
|
|
NM_183050.4(BCKDHB):c.743-19T>A
|
|
|
NM_183050.4(BCKDHB):c.743-19T>C
|
|
|
NM_183050.4(BCKDHB):c.743-20T>C
|
|
|
NM_183050.4(BCKDHB):c.743-6A>G
|
rs759281718
|
|
NM_183050.4(BCKDHB):c.743-8G>A
|
rs765391530
|
|
NM_183050.4(BCKDHB):c.743-8G>C
|
rs765391530
|
|
NM_183050.4(BCKDHB):c.743-9T>G
|
|
|
NM_183050.4(BCKDHB):c.747A>G (p.Glu249=)
|
rs764125560
|
|
NM_183050.4(BCKDHB):c.753C>A (p.Val251=)
|
rs1582341919
|
|
NM_183050.4(BCKDHB):c.756T>C (p.Pro252=)
|
|
|
NM_183050.4(BCKDHB):c.765A>T (p.Pro255=)
|
rs2127823220
|
|
NM_183050.4(BCKDHB):c.768C>T (p.Tyr256=)
|
rs781723847
|
|
NM_183050.4(BCKDHB):c.771C>T (p.Asn257=)
|
rs2127823243
|
|
NM_183050.4(BCKDHB):c.774C>T (p.Ile258=)
|
rs2127823256
|
|
NM_183050.4(BCKDHB):c.777A>G (p.Pro259=)
|
|
|
NM_183050.4(BCKDHB):c.778C>T (p.Leu260=)
|
rs2127823271
|
|
NM_183050.4(BCKDHB):c.780G>A (p.Leu260=)
|
|
|
NM_183050.4(BCKDHB):c.780G>C (p.Leu260=)
|
|
|
NM_183050.4(BCKDHB):c.804A>G (p.Glu268=)
|
rs769220378
|
|
NM_183050.4(BCKDHB):c.813T>C (p.Asp271=)
|
|
|
NM_183050.4(BCKDHB):c.81T>C (p.Pro27=)
|
|
|
NM_183050.4(BCKDHB):c.828C>T (p.Ala276=)
|
|
|
NM_183050.4(BCKDHB):c.834C>T (p.Gly278=)
|
|
|
NM_183050.4(BCKDHB):c.840+12T>G
|
|
|
NM_183050.4(BCKDHB):c.840+15dup
|
|
|
NM_183050.4(BCKDHB):c.840+20A>G
|
|
|
NM_183050.4(BCKDHB):c.840+8G>A
|
|
|
NM_183050.4(BCKDHB):c.84C>A (p.Gly28=)
|
|
|
NM_183050.4(BCKDHB):c.84C>G (p.Gly28=)
|
rs776261412
|
|
NM_183050.4(BCKDHB):c.861A>C (p.Val287=)
|
rs1358699136
|
|
NM_183050.4(BCKDHB):c.861A>T (p.Val287=)
|
rs1358699136
|
|
NM_183050.4(BCKDHB):c.900A>G (p.Glu300=)
|
rs2127826950
|
|
NM_183050.4(BCKDHB):c.903C>T (p.Val301=)
|
|
|
NM_183050.4(BCKDHB):c.915G>A (p.Arg305=)
|
|
|
NM_183050.4(BCKDHB):c.939C>T (p.Asp313=)
|
rs2127827076
|
|
NM_183050.4(BCKDHB):c.951+10T>C
|
|
|
NM_183050.4(BCKDHB):c.951+11A>C
|
|
|
NM_183050.4(BCKDHB):c.951+27209A>G
|
rs207467187
|
|
NM_183050.4(BCKDHB):c.951+7A>C
|
rs2127827133
|
|
NM_183050.4(BCKDHB):c.951+8T>A
|
rs749433792
|
|
NM_183050.4(BCKDHB):c.951+9A>C
|
rs374054207
|
|
NM_183050.4(BCKDHB):c.951+9A>G
|
rs374054207
|
|
NM_183050.4(BCKDHB):c.952-13T>C
|
|
|
NM_183050.4(BCKDHB):c.952-14C>G
|
rs1777820973
|
|
NM_183050.4(BCKDHB):c.952-14C>T
|
|
|
NM_183050.4(BCKDHB):c.952-16_952-15del
|
rs890103324
|
|
NM_183050.4(BCKDHB):c.952-5T>G
|
|
|
NM_183050.4(BCKDHB):c.969G>A (p.Gly323=)
|
|
|
NM_183050.4(BCKDHB):c.969G>C (p.Gly323=)
|
rs764707388
|
|
NM_183050.4(BCKDHB):c.96G>A (p.Ala32=)
|
rs1769084493
|
|
NM_183050.4(BCKDHB):c.96G>C (p.Ala32=)
|
|
|
NM_183050.4(BCKDHB):c.970C>A (p.Arg324=)
|
|
|
NM_183050.4(BCKDHB):c.975G>T (p.Leu325=)
|
|
|
NM_183050.4(BCKDHB):c.976C>T (p.Leu326=)
|
rs2127965109
|
|
NM_183050.4(BCKDHB):c.996C>G (p.Pro332=)
|
|
|
NM_183050.4(BCKDHB):c.996C>T (p.Pro332=)
|
|
|
NM_183050.4(BCKDHB):c.99G>A (p.Arg33=)
|
|
|