NM_001918.5(DBT):c.1150A>G (p.Ser384Gly)
|
rs12021720
|
0.87100
|
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.376-10A>C
|
rs3213861
|
0.59120
|
NM_183050.4(BCKDHB):c.197-11G>T
|
rs9448894
|
0.42545
|
NM_001918.5(DBT):c.1210-9A>T
|
rs34229137
|
0.31080
|
NM_001918.5(DBT):c.1150= (p.Ser384=)
|
rs12021720
|
0.12900
|
NM_000709.4(BCKDHA):c.116C>A (p.Pro39His)
|
rs11549936
|
0.07892
|
NM_001918.5(DBT):c.1210-10T>A
|
rs183058253
|
0.04736
|
NM_001918.5(DBT):c.715A>G (p.Ile239Val)
|
rs72973763
|
0.03442
|
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.639C>T (p.Ile213=)
|
rs10404506
|
0.01970
|
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_000709.4(BCKDHA):c.452C>T (p.Thr151Met)
|
rs34442879
|
0.00790
|
NM_000709.4(BCKDHA):c.995+9C>T
|
rs13343330
|
0.00750
|
NM_001918.5(DBT):c.1282-13_1282-9del
|
rs761681999
|
0.00456
|
NM_183050.4(BCKDHB):c.122C>T (p.Thr41Ile)
|
rs35470366
|
0.00394
|
NM_000709.4(BCKDHA):c.975C>T (p.Leu325=)
|
rs55940366
|
0.00365
|
NM_001918.5(DBT):c.506G>A (p.Arg169Gln)
|
rs34267966
|
0.00341
|
NM_001918.5(DBT):c.76T>C (p.Cys26Arg)
|
rs145674833
|
0.00302
|
NM_000709.4(BCKDHA):c.484+5G>A
|
rs149899007
|
0.00298
|
NM_000709.4(BCKDHA):c.996-18C>T
|
rs201511678
|
0.00271
|
NM_183050.4(BCKDHB):c.742+16A>G
|
rs140373763
|
0.00220
|
NM_001918.5(DBT):c.1418A>G (p.Asn473Ser)
|
rs75525811
|
0.00196
|
NM_183050.4(BCKDHB):c.447T>C (p.Phe149=)
|
rs35969420
|
0.00185
|
NM_183050.4(BCKDHB):c.477+14C>T
|
rs112504381
|
0.00185
|
NM_183050.4(BCKDHB):c.742+7A>T
|
rs111903796
|
0.00185
|
NM_001918.5(DBT):c.753C>T (p.Asp251=)
|
rs79292123
|
0.00179
|
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_183050.4(BCKDHB):c.633+16T>C
|
rs373772596
|
0.00089
|
NM_183050.4(BCKDHB):c.633G>C (p.Lys211Asn)
|
rs143427811
|
0.00086
|
NM_000709.4(BCKDHA):c.376-4C>T
|
rs199725420
|
0.00084
|
NM_001918.5(DBT):c.327C>T (p.Thr109=)
|
rs138796800
|
0.00078
|
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_183050.4(BCKDHB):c.832G>A (p.Gly278Ser)
|
rs386834233
|
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_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_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_000709.4(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.375+4C>T
|
rs377496852
|
0.00025
|
NM_001918.5(DBT):c.901C>T (p.Arg301Cys)
|
rs185492864
|
0.00025
|
NM_000709.4(BCKDHA):c.744C>T (p.Ala248=)
|
rs137960127
|
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.670G>T (p.Glu224Ter)
|
rs74103423
|
0.00022
|
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_001918.5(DBT):c.1210-9_1210-8insT
|
rs201755806
|
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.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_183050.4(BCKDHB):c.1143G>A (p.Lys381=)
|
rs143579400
|
0.00016
|
NM_000709.4(BCKDHA):c.924C>T (p.Asn308=)
|
rs139390622
|
0.00015
|
NM_183050.4(BCKDHB):c.853C>T (p.Arg285Ter)
|
rs398124598
|
0.00015
|
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_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_000709.4(BCKDHA):c.448A>G (p.Asn150Asp)
|
rs140612545
|
0.00011
|
NM_001918.5(DBT):c.318T>G (p.Ala106=)
|
rs146259768
|
0.00011
|
NM_001918.5(DBT):c.827T>G (p.Phe276Cys)
|
rs121964999
|
0.00011
|
NM_000709.4(BCKDHA):c.159G>C (p.Gln53His)
|
rs775471043
|
0.00010
|
NM_183050.4(BCKDHB):c.548G>C (p.Arg183Pro)
|
rs79761867
|
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_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.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_001918.5(DBT):c.1127G>A (p.Arg376His)
|
rs150934375
|
0.00006
|
NM_001918.5(DBT):c.1281+5A>G
|
rs199571242
|
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_183050.4(BCKDHB):c.197-11del
|
rs200609312
|
0.00006
|
NM_183050.4(BCKDHB):c.509G>A (p.Arg170His)
|
rs371518124
|
0.00006
|
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_001918.5(DBT):c.1111G>A (p.Ala371Thr)
|
rs777868718
|
0.00005
|
NM_001918.5(DBT):c.291C>T (p.Ser97=)
|
rs201318480
|
0.00005
|
NM_001918.5(DBT):c.572T>G (p.Val191Gly)
|
rs146894954
|
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.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_001918.5(DBT):c.1018-550A>G
|
rs796052135
|
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.1210-10_1210-9del
|
rs794726986
|
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.75_76del (p.Cys26fs)
|
rs768832921
|
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.434C>T (p.Ala145Val)
|
rs574122134
|
0.00004
|
NM_183050.4(BCKDHB):c.502C>T (p.Arg168Cys)
|
rs398124579
|
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.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.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.946C>T (p.Arg316Trp)
|
rs758442329
|
0.00003
|
NM_000709.4(BCKDHA):c.999C>T (p.Ile333=)
|
rs374450070
|
0.00003
|
NM_183050.4(BCKDHB):c.33_34del (p.Leu12fs)
|
rs398124572
|
0.00003
|
NM_183050.4(BCKDHB):c.5C>T (p.Ala2Val)
|
rs769876670
|
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.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_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.1A>G (p.Met1Val)
|
rs759312184
|
0.00002
|
NM_001918.5(DBT):c.34A>G (p.Arg12Gly)
|
rs1215222732
|
0.00002
|
NM_001918.5(DBT):c.401C>T (p.Pro134Leu)
|
rs1131691488
|
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.1016C>T (p.Ser339Leu)
|
rs398124561
|
0.00002
|
NM_183050.4(BCKDHB):c.1087T>A (p.Tyr363Asn)
|
rs398124565
|
0.00002
|
NM_183050.4(BCKDHB):c.239C>G (p.Ala80Gly)
|
rs371131253
|
0.00002
|
NM_183050.4(BCKDHB):c.36C>T (p.Leu12=)
|
rs1464497822
|
0.00002
|
NM_183050.4(BCKDHB):c.449C>T (p.Ala150Val)
|
rs867033248
|
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_183050.4(BCKDHB):c.92T>C (p.Leu31Pro)
|
rs763434607
|
0.00002
|
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.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.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.884C>A (p.Ser295Ter)
|
rs1318419473
|
0.00001
|
NM_000709.4(BCKDHA):c.919T>C (p.Tyr307His)
|
rs138261404
|
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
|
NM_001918.5(DBT):c.1017+8A>G
|
rs541924732
|
0.00001
|
NM_001918.5(DBT):c.1017G>A (p.Lys339=)
|
rs1490661508
|
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.1171C>T (p.Leu391Phe)
|
rs1339599491
|
0.00001
|
NM_001918.5(DBT):c.1173T>G (p.Leu391=)
|
rs763246178
|
0.00001
|
NM_001918.5(DBT):c.1202T>C (p.Ile401Thr)
|
rs1449113689
|
0.00001
|
NM_001918.5(DBT):c.1210-18_1210-9del
|
rs780660910
|
0.00001
|
NM_001918.5(DBT):c.1217G>T (p.Gly406Val)
|
rs767154711
|
0.00001
|
NM_001918.5(DBT):c.1261G>T (p.Gly421Trp)
|
rs796051945
|
0.00001
|
NM_001918.5(DBT):c.1291C>T (p.Arg431Ter)
|
rs398123660
|
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.1384C>T (p.Arg462Cys)
|
rs765257706
|
0.00001
|
NM_001918.5(DBT):c.1385G>A (p.Arg462His)
|
rs750594890
|
0.00001
|
NM_001918.5(DBT):c.1392C>T (p.Ser464=)
|
rs765967170
|
0.00001
|
NM_001918.5(DBT):c.1430T>G (p.Met477Arg)
|
rs398123662
|
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.206T>C (p.Leu69Pro)
|
rs1663813561
|
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.365A>G (p.Tyr122Cys)
|
rs727503896
|
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.434-15_434-4del
|
rs727503895
|
0.00001
|
NM_001918.5(DBT):c.495G>A (p.Glu165=)
|
rs1481747202
|
0.00001
|
NM_001918.5(DBT):c.52-1G>A
|
rs755914063
|
0.00001
|
NM_001918.5(DBT):c.52-5del
|
rs1234151678
|
0.00001
|
NM_001918.5(DBT):c.5C>T (p.Ala2Val)
|
rs398123672
|
0.00001
|
NM_001918.5(DBT):c.61C>T (p.Arg21Cys)
|
rs398123673
|
0.00001
|
NM_001918.5(DBT):c.624T>C (p.Tyr208=)
|
rs752504160
|
0.00001
|
NM_001918.5(DBT):c.673A>C (p.Ile225Leu)
|
rs1472099889
|
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.781A>G (p.Lys261Glu)
|
rs926492799
|
0.00001
|
NM_001918.5(DBT):c.815A>G (p.Lys272Arg)
|
rs1662393960
|
0.00001
|
NM_001918.5(DBT):c.836G>T (p.Cys279Phe)
|
rs1662392597
|
0.00001
|
NM_001918.5(DBT):c.837T>C (p.Cys279=)
|
rs1662392437
|
0.00001
|
NM_001918.5(DBT):c.871C>T (p.Arg291Ter)
|
rs398123675
|
0.00001
|
NM_001918.5(DBT):c.884A>G (p.Lys295Arg)
|
rs139216072
|
0.00001
|
NM_001918.5(DBT):c.902G>A (p.Arg301His)
|
rs770981889
|
0.00001
|
NM_001918.5(DBT):c.939+9C>T
|
rs779947502
|
0.00001
|
NM_001918.5(DBT):c.939G>C (p.Lys313Asn)
|
rs398123676
|
0.00001
|
NM_183050.4(BCKDHB):c.1023del (p.Ser342fs)
|
rs776270090
|
0.00001
|
NM_183050.4(BCKDHB):c.1031C>T (p.Thr344Ile)
|
rs761138547
|
0.00001
|
NM_183050.4(BCKDHB):c.1038+2T>C
|
rs762419044
|
0.00001
|
NM_183050.4(BCKDHB):c.1039-10C>T
|
rs760262704
|
0.00001
|
NM_183050.4(BCKDHB):c.1057C>G (p.Leu353Val)
|
rs398124563
|
0.00001
|
NM_183050.4(BCKDHB):c.1067C>T (p.Pro356Leu)
|
rs1304667430
|
0.00001
|
NM_183050.4(BCKDHB):c.1132G>A (p.Asp378Asn)
|
rs970365846
|
0.00001
|
NM_183050.4(BCKDHB):c.1158T>G (p.Leu386=)
|
rs766392710
|
0.00001
|
NM_183050.4(BCKDHB):c.1159C>T (p.Arg387Ter)
|
rs751599203
|
0.00001
|
NM_183050.4(BCKDHB):c.115G>A (p.Ala39Thr)
|
rs914935376
|
0.00001
|
NM_183050.4(BCKDHB):c.152del (p.Val51fs)
|
rs867612284
|
0.00001
|
NM_183050.4(BCKDHB):c.17C>T (p.Ala6Val)
|
rs534975518
|
0.00001
|
NM_183050.4(BCKDHB):c.181G>T (p.Glu61Ter)
|
rs774916970
|
0.00001
|
NM_183050.4(BCKDHB):c.192G>A (p.Glu64=)
|
rs1174539586
|
0.00001
|
NM_183050.4(BCKDHB):c.1A>T (p.Met1Leu)
|
rs1005542482
|
0.00001
|
NM_183050.4(BCKDHB):c.245A>G (p.Asp82Gly)
|
rs150769284
|
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.263A>T (p.Asp88Val)
|
rs374253889
|
0.00001
|
NM_183050.4(BCKDHB):c.26G>C (p.Gly9Ala)
|
rs780722473
|
0.00001
|
NM_183050.4(BCKDHB):c.274+8T>G
|
rs144531503
|
0.00001
|
NM_183050.4(BCKDHB):c.302G>A (p.Gly101Asp)
|
rs398124571
|
0.00001
|
NM_183050.4(BCKDHB):c.344-9T>C
|
rs1479038293
|
0.00001
|
NM_183050.4(BCKDHB):c.365C>T (p.Thr122Ile)
|
rs398124575
|
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.410C>T (p.Ala137Val)
|
rs776631396
|
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.479T>G (p.Ile160Ser)
|
rs398124576
|
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.506A>G (p.Tyr169Cys)
|
rs398124580
|
0.00001
|
NM_183050.4(BCKDHB):c.522T>C (p.Leu174=)
|
rs1191860809
|
0.00001
|
NM_183050.4(BCKDHB):c.526A>T (p.Asn176Tyr)
|
rs398124582
|
0.00001
|
NM_183050.4(BCKDHB):c.555T>C (p.Pro185=)
|
rs749123579
|
0.00001
|
NM_183050.4(BCKDHB):c.564T>A (p.Cys188Ter)
|
rs774306610
|
0.00001
|
NM_183050.4(BCKDHB):c.573T>C (p.His191=)
|
rs1280521091
|
0.00001
|
NM_183050.4(BCKDHB):c.587A>T (p.His196Leu)
|
rs398124585
|
0.00001
|
NM_183050.4(BCKDHB):c.615C>T (p.Ala205=)
|
rs760033819
|
0.00001
|
NM_183050.4(BCKDHB):c.633+1G>A
|
rs398124589
|
0.00001
|
NM_183050.4(BCKDHB):c.636G>A (p.Val212=)
|
rs968957690
|
0.00001
|
NM_183050.4(BCKDHB):c.641T>A (p.Ile214Lys)
|
rs796051940
|
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.752T>C (p.Val251Ala)
|
rs398124593
|
0.00001
|
NM_183050.4(BCKDHB):c.799C>T (p.Gln267Ter)
|
rs398124594
|
0.00001
|
NM_183050.4(BCKDHB):c.79_89del (p.Pro27fs)
|
rs1057516795
|
0.00001
|
NM_183050.4(BCKDHB):c.841-9T>G
|
rs774698097
|
0.00001
|
NM_183050.4(BCKDHB):c.854G>A (p.Arg285Gln)
|
rs761827220
|
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.866C>T (p.Ser289Phe)
|
rs762438504
|
0.00001
|
NM_183050.4(BCKDHB):c.882G>A (p.Lys294=)
|
rs1354419202
|
0.00001
|
NM_183050.4(BCKDHB):c.895T>A (p.Cys299Ser)
|
rs370331553
|
0.00001
|
NM_183050.4(BCKDHB):c.90G>A (p.Gly30=)
|
rs553058134
|
0.00001
|
NM_183050.4(BCKDHB):c.970C>T (p.Arg324Ter)
|
rs398124603
|
0.00001
|
NM_183050.4(BCKDHB):c.9T>A (p.Val3=)
|
rs1373155112
|
0.00001
|
NC_000001.10:g.(?_100316599)_(101709564_?)dup
|
|
|
NC_000001.10:g.(?_100671776)_(100672202_?)del
|
|
|
NC_000001.10:g.(?_100680363)_(100684318_?)del
|
|
|
NC_000001.11:g.(?_100196235)_(100196442_?)del
|
|
|
NC_000001.11:g.(?_100214807)_(100230924_?)del
|
|
|
NC_000001.11:g.(?_100218757)_(100221872_?)del
|
|
|
NC_000001.11:g.(?_100240751)_(100240894_?)del
|
|
|
NC_000001.11:g.100196336_100215732del
|
|
|
NC_000006.11:g.(?_79650410)_(80912949_?)del
|
|
|
NC_000006.11:g.(?_80816317)_(80838956_?)del
|
|
|
NC_000006.11:g.(?_80816391)_(81053541_?)del
|
|
|
NC_000006.11:g.(?_80816411)_(80816626_?)del
|
|
|
NC_000006.11:g.(?_80816411)_(81053521_?)del
|
|
|
NC_000006.11:g.(?_80837244)_(80982958_?)del
|
|
|
NC_000006.11:g.(?_80877375)_(80881127_?)dup
|
|
|
NC_000006.11:g.(?_80877385)_(80878757_?)del
|
|
|
NC_000006.11:g.(?_80880989)_(81055997_?)del
|
|
|
NC_000006.11:g.(?_80910641)_(80982948_?)dup
|
|
|
NC_000006.11:g.(?_80910651)_(80910770_?)del
|
|
|
NC_000006.12:g.(?_80106674)_(80106909_?)del
|
|
|
NC_000006.12:g.(?_80167668)_(80171400_?)del
|
|
|
NC_000006.12:g.(?_80200924)_(80201041_?)del
|
|
|
NC_000006.12:g.(?_80273125)_(80273231_?)del
|
|
|
NC_000019.10:g.(?_41397818)_(41414167_?)del
|
|
|
NC_000019.10:g.(?_41424428)_(41424831_?)del
|
|
|
NC_000019.9:g.(?_39904727)_(42931301_?)dup
|
|
|
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.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.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.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.1168-2A>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.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.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.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.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.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.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.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.138A>T (p.Ser46=)
|
rs1342568998
|
|
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.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.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.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>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.330A>G (p.Thr110=)
|
|
|
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.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.376-20G>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.39A>G (p.Leu13=)
|
|
|
NM_000709.4(BCKDHA):c.402del (p.Tyr135fs)
|
|
|
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.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.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.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.549T>C (p.Ser183=)
|
rs981398635
|
|
NM_000709.4(BCKDHA):c.55C>T (p.Gln19Ter)
|
|
|
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.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.657G>C (p.Ala219=)
|
|
|
NM_000709.4(BCKDHA):c.659del (p.Ala220fs)
|
|
|
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.694G>A (p.Val232Ile)
|
|
|
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.753C>T (p.Asn251=)
|
|
|
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.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.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.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.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+1G>C
|
|
|
NM_000709.4(BCKDHA):c.853+20C>T
|
|
|
NM_000709.4(BCKDHA):c.853+2T>C
|
|
|
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.859C>G (p.Arg287Gly)
|
rs764247545
|
|
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.904G>A (p.Asp302Asn)
|
|
|
NM_000709.4(BCKDHA):c.905A>C (p.Asp302Ala)
|
rs398123509
|
|
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.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.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.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.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.996-2A>G
|
rs2122146208
|
|
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.1002G>T (p.Gln334His)
|
|
|
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.1017+1G>A
|
|
|
NM_001918.5(DBT):c.1017+1G>T
|
|
|
NM_001918.5(DBT):c.1018-10dup
|
rs1287581664
|
|
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.1018-2A>T
|
|
|
NM_001918.5(DBT):c.1018-3del
|
rs2100780335
|
|
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.1061T>C (p.Leu354Ser)
|
rs1296308942
|
|
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.1126C>T (p.Arg376Cys)
|
rs768389398
|
|
NM_001918.5(DBT):c.1131C>T (p.Leu377=)
|
rs1661802261
|
|
NM_001918.5(DBT):c.113_114del (p.Cys38fs)
|
rs2100844690
|
|
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.1170T>G (p.Asp390Glu)
|
rs1661798658
|
|
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.1195T>G (p.Ser399Ala)
|
rs1553229654
|
|
NM_001918.5(DBT):c.1195del (p.Ser399fs)
|
rs2100779888
|
|
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.1210-10del
|
rs398123658
|
|
NM_001918.5(DBT):c.1210-10dup
|
rs398123658
|
|
NM_001918.5(DBT):c.1210-11_1210-10inv
|
|
|
NM_001918.5(DBT):c.1210-12T>A
|
|
|
NM_001918.5(DBT):c.1210-12T>G
|
|
|
NM_001918.5(DBT):c.1210-1G>C
|
|
|
NM_001918.5(DBT):c.1210-3T>A
|
|
|
NM_001918.5(DBT):c.1210-4del
|
rs201117345
|
|
NM_001918.5(DBT):c.1210-4dup
|
rs201117345
|
|
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.1212T>G (p.Ile404Met)
|
rs2100779467
|
|
NM_001918.5(DBT):c.1215T>C (p.Gly405=)
|
|
|
NM_001918.5(DBT):c.1219A>G (p.Thr407Ala)
|
|
|
NM_001918.5(DBT):c.1221C>T (p.Thr407=)
|
|
|
NM_001918.5(DBT):c.1227C>T (p.Ala409=)
|
|
|
NM_001918.5(DBT):c.1230A>C (p.Lys410Asn)
|
|
|
NM_001918.5(DBT):c.1232C>T (p.Pro411Leu)
|
rs2100779419
|
|
NM_001918.5(DBT):c.1238T>C (p.Ile413Thr)
|
|
|
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.1251A>G (p.Glu417=)
|
|
|
NM_001918.5(DBT):c.1259T>C (p.Ile420Thr)
|
|
|
NM_001918.5(DBT):c.1260T>C (p.Ile420=)
|
|
|
NM_001918.5(DBT):c.1264G>A (p.Ala422Thr)
|
|
|
NM_001918.5(DBT):c.1264dup (p.Ala422fs)
|
rs1401829291
|
|
NM_001918.5(DBT):c.126T>G (p.Tyr42Ter)
|
rs794727262
|
|
NM_001918.5(DBT):c.1275A>G (p.Ser425=)
|
rs1570806049
|
|
NM_001918.5(DBT):c.1276A>G (p.Ile426Val)
|
rs1471693880
|
|
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+1G>C
|
rs1557943881
|
|
NM_001918.5(DBT):c.1281+2T>A
|
rs2100779270
|
|
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_1282-9del
|
rs760164623
|
|
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.1282-18_1282-10del
|
rs752915898
|
|
NM_001918.5(DBT):c.1282-19T>C
|
|
|
NM_001918.5(DBT):c.1282-19_1282-10del
|
rs752915898
|
|
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.1282-24_1282-10dup
|
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.1283C>T (p.Ala428Val)
|
rs2100761237
|
|
NM_001918.5(DBT):c.1292G>C (p.Arg431Pro)
|
rs776490043
|
|
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.1324C>T (p.Gln442Ter)
|
rs1276927916
|
|
NM_001918.5(DBT):c.1333_1336del (p.Met444_Asn445insTer)
|
rs2100761028
|
|
NM_001918.5(DBT):c.1342_1351del (p.Trp448fs)
|
|
|
NM_001918.5(DBT):c.1343G>A (p.Trp448Ter)
|
rs749366506
|
|
NM_001918.5(DBT):c.1347A>G (p.Ser449=)
|
|
|
NM_001918.5(DBT):c.1372G>T (p.Ala458Ser)
|
|
|
NM_001918.5(DBT):c.1375A>G (p.Thr459Ala)
|
|
|
NM_001918.5(DBT):c.1382C>A (p.Ser461Ter)
|
rs1553228626
|
|
NM_001918.5(DBT):c.1383A>C (p.Ser461=)
|
rs2100760925
|
|
NM_001918.5(DBT):c.1385G>C (p.Arg462Pro)
|
rs750594890
|
|
NM_001918.5(DBT):c.1389C>T (p.Phe463=)
|
rs886044964
|
|
NM_001918.5(DBT):c.138G>A (p.Lys46=)
|
|
|
NM_001918.5(DBT):c.1394A>G (p.Asn465Ser)
|
|
|
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.1420C>A (p.Pro474Thr)
|
|
|
NM_001918.5(DBT):c.143_146dup (p.His49fs)
|
rs1384034981
|
|
NM_001918.5(DBT):c.1441C>T (p.Leu481=)
|
|
|
NM_001918.5(DBT):c.14G>A (p.Arg5His)
|
|
|
NM_001918.5(DBT):c.159C>T (p.Phe53=)
|
rs772209054
|
|
NM_001918.5(DBT):c.165AAC[1] (p.Thr57del)
|
rs771945254
|
|
NM_001918.5(DBT):c.16A>G (p.Met6Val)
|
|
|
NM_001918.5(DBT):c.175+10A>G
|
|
|
NM_001918.5(DBT):c.175+16A>G
|
|
|
NM_001918.5(DBT):c.175+1G>A
|
rs2100844517
|
|
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.17dup (p.Met6fs)
|
rs2100772715
|
|
NM_001918.5(DBT):c.181C>T (p.Arg61Cys)
|
|
|
NM_001918.5(DBT):c.182G>A (p.Arg61His)
|
|
|
NM_001918.5(DBT):c.207C>G (p.Leu69=)
|
|
|
NM_001918.5(DBT):c.207C>T (p.Leu69=)
|
|
|
NM_001918.5(DBT):c.215T>C (p.Ile72Thr)
|
rs565879664
|
|
NM_001918.5(DBT):c.225G>A (p.Gly75=)
|
rs2100834832
|
|
NM_001918.5(DBT):c.228T>C (p.Ile76=)
|
|
|
NM_001918.5(DBT):c.230G>A (p.Arg77Lys)
|
|
|
NM_001918.5(DBT):c.241_242del (p.Thr80_Val81insTer)
|
rs2100834784
|
|
NM_001918.5(DBT):c.243T>G (p.Val81=)
|
|
|
NM_001918.5(DBT):c.246A>G (p.Lys82=)
|
|
|
NM_001918.5(DBT):c.247del (p.Glu83fs)
|
|
|
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+19dup
|
rs201469612
|
|
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.252-1G>T
|
rs1663522846
|
|
NM_001918.5(DBT):c.252-8T>C
|
rs2100827755
|
|
NM_001918.5(DBT):c.258A>G (p.Val86=)
|
|
|
NM_001918.5(DBT):c.260AAG[1] (p.Glu88del)
|
rs1217050849
|
|
NM_001918.5(DBT):c.261del (p.Glu88fs)
|
rs1570836175
|
|
NM_001918.5(DBT):c.264A>G (p.Glu88=)
|
rs1557956728
|
|
NM_001918.5(DBT):c.272_275del (p.Thr91fs)
|
rs398123666
|
|
NM_001918.5(DBT):c.273A>C (p.Thr91=)
|
rs2100827682
|
|
NM_001918.5(DBT):c.273A>G (p.Thr91=)
|
|
|
NM_001918.5(DBT):c.280C>T (p.Gln94Ter)
|
|
|
NM_001918.5(DBT):c.282G>A (p.Gln94=)
|
rs2100827660
|
|
NM_001918.5(DBT):c.288T>C (p.Asp96=)
|
|
|
NM_001918.5(DBT):c.292A>G (p.Ile98Val)
|
|
|
NM_001918.5(DBT):c.296G>A (p.Cys99Tyr)
|
rs1557956678
|
|
NM_001918.5(DBT):c.29G>A (p.Trp10Ter)
|
rs572340170
|
|
NM_001918.5(DBT):c.300A>G (p.Glu100=)
|
rs772023545
|
|
NM_001918.5(DBT):c.304C>T (p.Gln102Ter)
|
rs2100827593
|
|
NM_001918.5(DBT):c.311A>G (p.Asp104Gly)
|
rs1553232188
|
|
NM_001918.5(DBT):c.311A>T (p.Asp104Val)
|
rs1553232188
|
|
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.363_364del (p.Tyr122fs)
|
rs753574354
|
|
NM_001918.5(DBT):c.364dup (p.Tyr122fs)
|
|
|
NM_001918.5(DBT):c.365_366del (p.Tyr122fs)
|
rs2100827350
|
|
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.36G>C (p.Arg12Ser)
|
|
|
NM_001918.5(DBT):c.384T>C (p.Ile128=)
|
rs918466852
|
|
NM_001918.5(DBT):c.398A>T (p.Lys133Met)
|
|
|
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+6G>A
|
|
|
NM_001918.5(DBT):c.433+7dup
|
rs2100827150
|
|
NM_001918.5(DBT):c.433+8A>G
|
|
|
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.434-1G>A
|
rs754004231
|
|
NM_001918.5(DBT):c.434-4C>T
|
|
|
NM_001918.5(DBT):c.437C>A (p.Ser146Ter)
|
|
|
NM_001918.5(DBT):c.442G>T (p.Glu148Ter)
|
rs1570820579
|
|
NM_001918.5(DBT):c.449TTG[1] (p.Val151del)
|
rs773087765
|
|
NM_001918.5(DBT):c.451G>A (p.Val151Ile)
|
rs1282153768
|
|
NM_001918.5(DBT):c.457del (p.Thr153fs)
|
|
|
NM_001918.5(DBT):c.45G>T (p.Gly15=)
|
|
|
NM_001918.5(DBT):c.465A>C (p.Ala155=)
|
|
|
NM_001918.5(DBT):c.474T>C (p.His158=)
|
rs2100804457
|
|
NM_001918.5(DBT):c.475G>A (p.Asp159Asn)
|
|
|
NM_001918.5(DBT):c.479A>C (p.Glu160Ala)
|
|
|
NM_001918.5(DBT):c.480A>G (p.Glu160=)
|
|
|
NM_001918.5(DBT):c.483T>C (p.His161=)
|
rs2100804431
|
|
NM_001918.5(DBT):c.488_489del (p.His163fs)
|
rs760861011
|
|
NM_001918.5(DBT):c.4G>A (p.Ala2Thr)
|
rs760664814
|
|
NM_001918.5(DBT):c.501G>A (p.Lys167=)
|
|
|
NM_001918.5(DBT):c.501_513del (p.Lys167fs)
|
|
|
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+1G>T
|
rs398123669
|
|
NM_001918.5(DBT):c.51+7A>G
|
|
|
NM_001918.5(DBT):c.510A>G (p.Lys170=)
|
rs1570820389
|
|
NM_001918.5(DBT):c.512C>T (p.Thr171Ile)
|
|
|
NM_001918.5(DBT):c.514C>T (p.Leu172=)
|
rs1344704881
|
|
NM_001918.5(DBT):c.516_522del (p.Ala173fs)
|
rs2100804340
|
|
NM_001918.5(DBT):c.52-10T>G
|
|
|
NM_001918.5(DBT):c.52-18T>G
|
rs1052822218
|
|
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.531_537del (p.Arg178fs)
|
rs1372109444
|
|
NM_001918.5(DBT):c.533G>A (p.Arg178His)
|
|
|
NM_001918.5(DBT):c.537T>C (p.Arg179=)
|
|
|
NM_001918.5(DBT):c.538C>G (p.Leu180Val)
|
rs2100804291
|
|
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.555dup (p.Ile186fs)
|
|
|
NM_001918.5(DBT):c.556-12A>G
|
|
|
NM_001918.5(DBT):c.556-14A>G
|
|
|
NM_001918.5(DBT):c.556-3dup
|
|
|
NM_001918.5(DBT):c.556-5T>C
|
|
|
NM_001918.5(DBT):c.576T>C (p.Val192=)
|
|
|
NM_001918.5(DBT):c.577G>A (p.Gly193Ser)
|
rs398123671
|
|
NM_001918.5(DBT):c.579C>T (p.Gly193=)
|
|
|
NM_001918.5(DBT):c.581C>A (p.Ser194Ter)
|
|
|
NM_001918.5(DBT):c.595A>G (p.Arg199Gly)
|
rs2100799976
|
|
NM_001918.5(DBT):c.630A>G (p.Glu210=)
|
|
|
NM_001918.5(DBT):c.634C>T (p.Gln212Ter)
|
rs1553230841
|
|
NM_001918.5(DBT):c.639del (p.Gly214fs)
|
|
|
NM_001918.5(DBT):c.63C>G (p.Arg21=)
|
|
|
NM_001918.5(DBT):c.642A>C (p.Gly214=)
|
|
|
NM_001918.5(DBT):c.645T>G (p.Ala215=)
|
|
|
NM_001918.5(DBT):c.650dup (p.Leu217fs)
|
|
|
NM_001918.5(DBT):c.663C>T (p.Pro221=)
|
rs1662468729
|
|
NM_001918.5(DBT):c.666A>G (p.Lys222=)
|
|
|
NM_001918.5(DBT):c.667G>A (p.Val223Ile)
|
|
|
NM_001918.5(DBT):c.668T>G (p.Val223Gly)
|
rs772801811
|
|
NM_001918.5(DBT):c.676A>G (p.Met226Val)
|
|
|
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.709G>C (p.Val237Leu)
|
rs947272551
|
|
NM_001918.5(DBT):c.714T>C (p.Pro238=)
|
|
|
NM_001918.5(DBT):c.715A>C (p.Ile239Leu)
|
|
|
NM_001918.5(DBT):c.725C>G (p.Ser242Ter)
|
rs201559874
|
|
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.762del (p.Glu254fs)
|
rs2100799447
|
|
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+1G>C
|
rs2100799417
|
|
NM_001918.5(DBT):c.772+2T>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.783del (p.Ala262fs)
|
|
|
NM_001918.5(DBT):c.787A>G (p.Met263Val)
|
rs753685282
|
|
NM_001918.5(DBT):c.788T>C (p.Met263Thr)
|
rs1553230703
|
|
NM_001918.5(DBT):c.792C>G (p.Val264=)
|
rs2100797477
|
|
NM_001918.5(DBT):c.799A>T (p.Met267Leu)
|
|
|
NM_001918.5(DBT):c.799_800del (p.Met267fs)
|
|
|
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.828del (p.Phe276fs)
|
|
|
NM_001918.5(DBT):c.82_84dup (p.Asn28dup)
|
rs746916491
|
|
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.853A>C (p.Thr285Pro)
|
rs1662391542
|
|
NM_001918.5(DBT):c.855T>C (p.Thr285=)
|
|
|
NM_001918.5(DBT):c.861G>A (p.Leu287=)
|
|
|
NM_001918.5(DBT):c.86T>C (p.Val29Ala)
|
rs1473273369
|
|
NM_001918.5(DBT):c.870C>T (p.Leu290=)
|
|
|
NM_001918.5(DBT):c.872G>A (p.Arg291Gln)
|
|
|
NM_001918.5(DBT):c.872G>T (p.Arg291Leu)
|
rs775808731
|
|
NM_001918.5(DBT):c.876A>G (p.Glu292=)
|
|
|
NM_001918.5(DBT):c.87T>A (p.Val29=)
|
rs2100844766
|
|
NM_001918.5(DBT):c.881T>A (p.Leu294Ter)
|
|
|
NM_001918.5(DBT):c.883A>C (p.Lys295Gln)
|
rs1158505606
|
|
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.899C>T (p.Ala300Val)
|
|
|
NM_001918.5(DBT):c.903T>C (p.Arg301=)
|
|
|
NM_001918.5(DBT):c.910_919del (p.Lys304fs)
|
rs2100797119
|
|
NM_001918.5(DBT):c.913C>T (p.Leu305Phe)
|
|
|
NM_001918.5(DBT):c.915C>T (p.Leu305=)
|
rs2100797139
|
|
NM_001918.5(DBT):c.916T>C (p.Ser306Pro)
|
rs2100797134
|
|
NM_001918.5(DBT):c.917C>G (p.Ser306Cys)
|
rs794727856
|
|
NM_001918.5(DBT):c.932T>C (p.Phe311Ser)
|
rs1662388035
|
|
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.940G>T (p.Ala314Ser)
|
|
|
NM_001918.5(DBT):c.945T>C (p.Ala315=)
|
rs2100788485
|
|
NM_001918.5(DBT):c.947_950del (p.Ser316fs)
|
|
|
NM_001918.5(DBT):c.960A>G (p.Leu320=)
|
rs2100788475
|
|
NM_001918.5(DBT):c.961C>T (p.Gln321Ter)
|
rs1662088383
|
|
NM_001918.5(DBT):c.961_962del (p.Gln321fs)
|
rs2100788460
|
|
NM_001918.5(DBT):c.962A>T (p.Gln321Leu)
|
rs758048048
|
|
NM_001918.5(DBT):c.963G>A (p.Gln321=)
|
rs762063921
|
|
NM_001918.5(DBT):c.963G>C (p.Gln321His)
|
|
|
NM_001918.5(DBT):c.967_975dup (p.Pro323_Leu325dup)
|
rs1557946237
|
|
NM_001918.5(DBT):c.979G>A (p.Ala327Thr)
|
|
|
NM_001918.5(DBT):c.990T>C (p.Asp330=)
|
rs2100788342
|
|
NM_001918.5(DBT):c.991G>A (p.Glu331Lys)
|
rs2100788336
|
|
NM_001918.5(DBT):c.995A>G (p.Asn332Ser)
|
|
|
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.1002A>G (p.Thr334=)
|
rs2127965195
|
|
NM_183050.4(BCKDHB):c.1005C>A (p.Gly335=)
|
rs1562193967
|
|
NM_183050.4(BCKDHB):c.1006G>A (p.Gly336Ser)
|
rs398124560
|
|
NM_183050.4(BCKDHB):c.1007dup (p.Phe337fs)
|
|
|
NM_183050.4(BCKDHB):c.100G>A (p.Gly34Ser)
|
|
|
NM_183050.4(BCKDHB):c.1014A>G (p.Ala338=)
|
rs904277226
|
|
NM_183050.4(BCKDHB):c.101del (p.Gly34fs)
|
|
|
NM_183050.4(BCKDHB):c.1022T>A (p.Ile341Asn)
|
rs796051939
|
|
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.1037A>G (p.Gln346Arg)
|
rs2127965290
|
|
NM_183050.4(BCKDHB):c.1038+20T>C
|
|
|
NM_183050.4(BCKDHB):c.1038+20T>G
|
|
|
NM_183050.4(BCKDHB):c.1038+5A>T
|
|
|
NM_183050.4(BCKDHB):c.1038+8A>T
|
rs1777830129
|
|
NM_183050.4(BCKDHB):c.1039-10C>G
|
rs760262704
|
|
NM_183050.4(BCKDHB):c.1039-10_1039-9del
|
|
|
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.1039-9dup
|
rs2128020517
|
|
NM_183050.4(BCKDHB):c.1041G>A (p.Glu347=)
|
rs2128020526
|
|
NM_183050.4(BCKDHB):c.1042G>A (p.Glu348Lys)
|
rs989873156
|
|
NM_183050.4(BCKDHB):c.1042G>T (p.Glu348Ter)
|
|
|
NM_183050.4(BCKDHB):c.1046G>A (p.Cys349Tyr)
|
rs398124562
|
|
NM_183050.4(BCKDHB):c.1059A>G (p.Leu353=)
|
rs1770035632
|
|
NM_183050.4(BCKDHB):c.1062G>A (p.Glu354=)
|
|
|
NM_183050.4(BCKDHB):c.1065del (p.Pro356fs)
|
rs869312129
|
|
NM_183050.4(BCKDHB):c.1068T>C (p.Pro356=)
|
rs1582600488
|
|
NM_183050.4(BCKDHB):c.1070T>C (p.Ile357Thr)
|
rs2128020569
|
|
NM_183050.4(BCKDHB):c.107dup (p.Leu36fs)
|
rs1769085821
|
|
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.1095_1096del (p.Pro366fs)
|
|
|
NM_183050.4(BCKDHB):c.1097C>T (p.Pro366Leu)
|
rs1770038350
|
|
NM_183050.4(BCKDHB):c.10G>A (p.Val4Ile)
|
rs774255890
|
|
NM_183050.4(BCKDHB):c.1107C>T (p.His369=)
|
rs1582600540
|
|
NM_183050.4(BCKDHB):c.1115A>T (p.Glu372Val)
|
rs1554216344
|
|
NM_183050.4(BCKDHB):c.1119A>G (p.Pro373=)
|
|
|
NM_183050.4(BCKDHB):c.1128C>T (p.Ile376=)
|
rs1035866627
|
|
NM_183050.4(BCKDHB):c.1130C>T (p.Pro377Leu)
|
rs1554216354
|
|
NM_183050.4(BCKDHB):c.1133A>G (p.Asp378Gly)
|
rs1185514016
|
|
NM_183050.4(BCKDHB):c.1137A>G (p.Lys379=)
|
|
|
NM_183050.4(BCKDHB):c.1149T>A (p.Tyr383Ter)
|
rs190867671
|
|
NM_183050.4(BCKDHB):c.1149T>C (p.Tyr383=)
|
|
|
NM_183050.4(BCKDHB):c.114C>T (p.Pro38=)
|
|
|
NM_183050.4(BCKDHB):c.1162A>G (p.Lys388Glu)
|
|
|
NM_183050.4(BCKDHB):c.1175A>G (p.Tyr392Cys)
|
|
|
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.131A>G (p.Asp44Gly)
|
rs2127699100
|
|
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.169C>T (p.Gln57Ter)
|
rs1554181192
|
|
NM_183050.4(BCKDHB):c.171G>C (p.Gln57His)
|
rs773031829
|
|
NM_183050.4(BCKDHB):c.173C>G (p.Pro58Arg)
|
|
|
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.195C>G (p.Tyr65Ter)
|
|
|
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+5G>A
|
rs398124568
|
|
NM_183050.4(BCKDHB):c.196+7C>T
|
rs753090498
|
|
NM_183050.4(BCKDHB):c.196+8C>G
|
rs1337392511
|
|
NM_183050.4(BCKDHB):c.196G>A (p.Gly66Arg)
|
rs1328608014
|
|
NM_183050.4(BCKDHB):c.196G>C (p.Gly66Arg)
|
rs1328608014
|
|
NM_183050.4(BCKDHB):c.196G>T (p.Gly66Trp)
|
rs1328608014
|
|
NM_183050.4(BCKDHB):c.197-11G>A
|
|
|
NM_183050.4(BCKDHB):c.197-15_197-14insA
|
|
|
NM_183050.4(BCKDHB):c.197-1G>C
|
|
|
NM_183050.4(BCKDHB):c.197-2A>C
|
|
|
NM_183050.4(BCKDHB):c.197-5C>T
|
rs1374556799
|
|
NM_183050.4(BCKDHB):c.19G>A (p.Ala7Thr)
|
|
|
NM_183050.4(BCKDHB):c.1A>G (p.Met1Val)
|
rs1005542482
|
|
NM_183050.4(BCKDHB):c.200A>G (p.Gln67Arg)
|
rs2127726102
|
|
NM_183050.4(BCKDHB):c.203C>T (p.Thr68Ile)
|
|
|
NM_183050.4(BCKDHB):c.21T>A (p.Ala7=)
|
|
|
NM_183050.4(BCKDHB):c.21dup (p.Ala8fs)
|
rs2127698713
|
|
NM_183050.4(BCKDHB):c.228T>A (p.Ser76=)
|
rs761814478
|
|
NM_183050.4(BCKDHB):c.234_249del (p.Ser79fs)
|
rs2127726128
|
|
NM_183050.4(BCKDHB):c.235del (p.Ser79fs)
|
|
|
NM_183050.4(BCKDHB):c.238G>A (p.Ala80Thr)
|
|
|
NM_183050.4(BCKDHB):c.23C>G (p.Ala8Gly)
|
|
|
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.25_35dup (p.Arg13fs)
|
rs2127698743
|
|
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.272del (p.Ala91fs)
|
rs2127726212
|
|
NM_183050.4(BCKDHB):c.274+10A>T
|
rs2127726226
|
|
NM_183050.4(BCKDHB):c.274+13T>C
|
|
|
NM_183050.4(BCKDHB):c.274+1G>T
|
|
|
NM_183050.4(BCKDHB):c.274+2T>C
|
|
|
NM_183050.4(BCKDHB):c.274+5C>T
|
rs1770414545
|
|
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.275-4del
|
|
|
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.281_291del (p.Phe94fs)
|
rs1380402024
|
|
NM_183050.4(BCKDHB):c.285T>C (p.Gly95=)
|
rs2127727865
|
|
NM_183050.4(BCKDHB):c.29_32del (p.Trp10fs)
|
|
|
NM_183050.4(BCKDHB):c.2T>C (p.Met1Thr)
|
rs940391887
|
|
NM_183050.4(BCKDHB):c.301G>A (p.Gly101Ser)
|
rs1770499193
|
|
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.320C>G (p.Thr107Ser)
|
|
|
NM_183050.4(BCKDHB):c.321T>C (p.Thr107=)
|
|
|
NM_183050.4(BCKDHB):c.322dup (p.Val108fs)
|
rs2127727907
|
|
NM_183050.4(BCKDHB):c.329_330delinsAA (p.Leu110Ter)
|
rs2127727924
|
|
NM_183050.4(BCKDHB):c.331C>A (p.Arg111=)
|
rs371117671
|
|
NM_183050.4(BCKDHB):c.331C>T (p.Arg111Ter)
|
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.338A>G (p.Lys113Arg)
|
rs770263755
|
|
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.342T>G (p.Tyr114Ter)
|
rs398124573
|
|
NM_183050.4(BCKDHB):c.343+16T>C
|
|
|
NM_183050.4(BCKDHB):c.343+17A>G
|
|
|
NM_183050.4(BCKDHB):c.343+1G>C
|
rs1770503105
|
|
NM_183050.4(BCKDHB):c.343+2T>G
|
rs1554184237
|
|
NM_183050.4(BCKDHB):c.343+2dup
|
|
|
NM_183050.4(BCKDHB):c.344-19T>C
|
|
|
NM_183050.4(BCKDHB):c.344-4T>G
|
rs2127773306
|
|
NM_183050.4(BCKDHB):c.344-4dup
|
|
|
NM_183050.4(BCKDHB):c.344-7T>C
|
rs1562102564
|
|
NM_183050.4(BCKDHB):c.348del (p.Asp117fs)
|
rs1400121541
|
|
NM_183050.4(BCKDHB):c.349G>A (p.Asp117Asn)
|
|
|
NM_183050.4(BCKDHB):c.352dup (p.Arg118fs)
|
|
|
NM_183050.4(BCKDHB):c.360T>C (p.Phe120=)
|
rs770355362
|
|
NM_183050.4(BCKDHB):c.367C>T (p.Pro123Ser)
|
|
|
NM_183050.4(BCKDHB):c.368del (p.Pro123fs)
|
rs1085307058
|
|
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.37A>G (p.Arg13Gly)
|
|
|
NM_183050.4(BCKDHB):c.389T>C (p.Val130Ala)
|
|
|
NM_183050.4(BCKDHB):c.392G>T (p.Gly131Val)
|
rs774472182
|
|
NM_183050.4(BCKDHB):c.396del (p.Phe132fs)
|
rs1562102740
|
|
NM_183050.4(BCKDHB):c.398G>A (p.Gly133Glu)
|
rs1772648897
|
|
NM_183050.4(BCKDHB):c.39G>A (p.Arg13=)
|
|
|
NM_183050.4(BCKDHB):c.403G>A (p.Gly135Arg)
|
rs751953459
|
|
NM_183050.4(BCKDHB):c.410C>A (p.Ala137Glu)
|
rs776631396
|
|
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.444G>C (p.Gln148His)
|
rs2127773506
|
|
NM_183050.4(BCKDHB):c.454T>G (p.Tyr152Asp)
|
rs2127773518
|
|
NM_183050.4(BCKDHB):c.464_465delinsGG (p.Pro155Arg)
|
rs2127773530
|
|
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+1G>A
|
rs1002472211
|
|
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.47C>A (p.Ala16Glu)
|
rs537680296
|
|
NM_183050.4(BCKDHB):c.483T>C (p.Val161=)
|
rs2127775341
|
|
NM_183050.4(BCKDHB):c.487G>T (p.Glu163Ter)
|
rs1057516799
|
|
NM_183050.4(BCKDHB):c.48G>A (p.Ala16=)
|
|
|
NM_183050.4(BCKDHB):c.48G>C (p.Ala16=)
|
rs998893388
|
|
NM_183050.4(BCKDHB):c.496A>T (p.Lys166Ter)
|
rs1772735425
|
|
NM_183050.4(BCKDHB):c.497A>T (p.Lys166Met)
|
|
|
NM_183050.4(BCKDHB):c.498G>A (p.Lys166=)
|
|
|
NM_183050.4(BCKDHB):c.501T>C (p.Tyr167=)
|
|
|
NM_183050.4(BCKDHB):c.503G>A (p.Arg168His)
|
rs749033513
|
|
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.508C>T (p.Arg170Cys)
|
rs398124581
|
|
NM_183050.4(BCKDHB):c.508_513del (p.Arg170_Ser171del)
|
|
|
NM_183050.4(BCKDHB):c.509G>C (p.Arg170Pro)
|
rs371518124
|
|
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.525del (p.Phe175fs)
|
|
|
NM_183050.4(BCKDHB):c.525dup (p.Asn176Ter)
|
rs2127775550
|
|
NM_183050.4(BCKDHB):c.532G>T (p.Gly178Ter)
|
|
|
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.547C>T (p.Arg183Trp)
|
rs149766077
|
|
NM_183050.4(BCKDHB):c.548G>A (p.Arg183Gln)
|
rs79761867
|
|
NM_183050.4(BCKDHB):c.549G>C (p.Arg183=)
|
|
|
NM_183050.4(BCKDHB):c.549G>T (p.Arg183=)
|
|
|
NM_183050.4(BCKDHB):c.550del (p.Ser184fs)
|
|
|
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.569G>C (p.Gly190Ala)
|
|
|
NM_183050.4(BCKDHB):c.56C>T (p.Ala19Val)
|
|
|
NM_183050.4(BCKDHB):c.576G>A (p.Gly192=)
|
rs2127775867
|
|
NM_183050.4(BCKDHB):c.57_64dup (p.His22fs)
|
rs1410520713
|
|
NM_183050.4(BCKDHB):c.580C>T (p.Leu194Phe)
|
|
|
NM_183050.4(BCKDHB):c.582C>G (p.Leu194=)
|
rs1772747208
|
|
NM_183050.4(BCKDHB):c.583dup (p.Tyr195fs)
|
rs1772747408
|
|
NM_183050.4(BCKDHB):c.584A>G (p.Tyr195Cys)
|
|
|
NM_183050.4(BCKDHB):c.585T>A (p.Tyr195Ter)
|
|
|
NM_183050.4(BCKDHB):c.591T>A (p.Ser197=)
|
|
|
NM_183050.4(BCKDHB):c.592_593del (p.Gln198fs)
|
rs398124586
|
|
NM_183050.4(BCKDHB):c.595_596del (p.Ser199_Pro200insTer)
|
rs398124587
|
|
NM_183050.4(BCKDHB):c.600T>G (p.Pro200=)
|
rs1031182895
|
|
NM_183050.4(BCKDHB):c.604G>A (p.Ala202Thr)
|
|
|
NM_183050.4(BCKDHB):c.612del (p.Phe204fs)
|
rs1210649507
|
|
NM_183050.4(BCKDHB):c.617A>C (p.His206Pro)
|
rs1562104694
|
|
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.634-14del
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|
|
NM_183050.4(BCKDHB):c.634-16A>C
|
|
|
NM_183050.4(BCKDHB):c.634-20A>T
|
|
|
NM_183050.4(BCKDHB):c.634-2A>G
|
|
|
NM_183050.4(BCKDHB):c.634-4G>C
|
|
|
NM_183050.4(BCKDHB):c.634-5del
|
rs1467662033
|
|
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.646A>G (p.Arg216Gly)
|
|
|
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.658C>T (p.Gln220Ter)
|
rs1772902148
|
|
NM_183050.4(BCKDHB):c.662_663del (p.Ala221fs)
|
|
|
NM_183050.4(BCKDHB):c.667G>T (p.Gly223Ter)
|
rs1248040495
|
|
NM_183050.4(BCKDHB):c.673C>G (p.Leu225Val)
|
|
|
NM_183050.4(BCKDHB):c.678G>A (p.Leu226=)
|
rs2127779199
|
|
NM_183050.4(BCKDHB):c.681A>G (p.Ser227=)
|
|
|
NM_183050.4(BCKDHB):c.686T>C (p.Ile229Thr)
|
|
|
NM_183050.4(BCKDHB):c.68G>A (p.Trp23Ter)
|
|
|
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.70_71insTTCCTGGCAGGGGCTGAGGA (p.Arg24delinsLeuProGlyArgGlyTer)
|
rs1582146989
|
|
NM_183050.4(BCKDHB):c.714dup (p.Glu239Ter)
|
rs1167005638
|
|
NM_183050.4(BCKDHB):c.721A>T (p.Lys241Ter)
|
|
|
NM_183050.4(BCKDHB):c.722_731dup (p.Tyr244Ter)
|
|
|
NM_183050.4(BCKDHB):c.726A>G (p.Ile242Met)
|
|
|
NM_183050.4(BCKDHB):c.72T>G (p.Arg24=)
|
rs2127698878
|
|
NM_183050.4(BCKDHB):c.730del (p.Tyr244fs)
|
rs1057516572
|
|
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+1G>A
|
rs1554190322
|
|
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.745G>T (p.Glu249Ter)
|
rs1774361781
|
|
NM_183050.4(BCKDHB):c.747A>G (p.Glu249=)
|
rs764125560
|
|
NM_183050.4(BCKDHB):c.748G>T (p.Glu250Ter)
|
rs398124592
|
|
NM_183050.4(BCKDHB):c.753C>A (p.Val251=)
|
rs1582341919
|
|
NM_183050.4(BCKDHB):c.756T>C (p.Pro252=)
|
|
|
NM_183050.4(BCKDHB):c.756_759del (p.Ile253fs)
|
|
|
NM_183050.4(BCKDHB):c.757A>C (p.Ile253Leu)
|
|
|
NM_183050.4(BCKDHB):c.75del (p.Leu26fs)
|
|
|
NM_183050.4(BCKDHB):c.765A>T (p.Pro255=)
|
rs2127823220
|
|
NM_183050.4(BCKDHB):c.767A>G (p.Tyr256Cys)
|
|
|
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.772A>T (p.Ile258Phe)
|
|
|
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.77T>C (p.Leu26Pro)
|
rs1769081318
|
|
NM_183050.4(BCKDHB):c.780G>A (p.Leu260=)
|
|
|
NM_183050.4(BCKDHB):c.780G>C (p.Leu260=)
|
|
|
NM_183050.4(BCKDHB):c.790G>A (p.Glu264Lys)
|
|
|
NM_183050.4(BCKDHB):c.794T>C (p.Val265Ala)
|
|
|
NM_183050.4(BCKDHB):c.796A>G (p.Ile266Val)
|
|
|
NM_183050.4(BCKDHB):c.804A>G (p.Glu268=)
|
rs769220378
|
|
NM_183050.4(BCKDHB):c.811_824del (p.Asp271fs)
|
rs1554194690
|
|
NM_183050.4(BCKDHB):c.812A>C (p.Asp271Ala)
|
rs2127823416
|
|
NM_183050.4(BCKDHB):c.813T>C (p.Asp271=)
|
|
|
NM_183050.4(BCKDHB):c.817A>C (p.Thr273Pro)
|
rs398124595
|
|
NM_183050.4(BCKDHB):c.818C>T (p.Thr273Ile)
|
|
|
NM_183050.4(BCKDHB):c.81T>C (p.Pro27=)
|
|
|
NM_183050.4(BCKDHB):c.821T>C (p.Leu274Pro)
|
rs1582342243
|
|
NM_183050.4(BCKDHB):c.827C>G (p.Ala276Gly)
|
rs1774369297
|
|
NM_183050.4(BCKDHB):c.828C>T (p.Ala276=)
|
|
|
NM_183050.4(BCKDHB):c.830G>A (p.Trp277Ter)
|
rs1774369632
|
|
NM_183050.4(BCKDHB):c.834C>T (p.Gly278=)
|
|
|
NM_183050.4(BCKDHB):c.835A>G (p.Thr279Ala)
|
rs775427993
|
|
NM_183050.4(BCKDHB):c.840+12T>G
|
|
|
NM_183050.4(BCKDHB):c.840+15dup
|
|
|
NM_183050.4(BCKDHB):c.840+1G>A
|
rs760538465
|
|
NM_183050.4(BCKDHB):c.840+20A>G
|
|
|
NM_183050.4(BCKDHB):c.840+8G>A
|
|
|
NM_183050.4(BCKDHB):c.841-1G>C
|
rs962489830
|
|
NM_183050.4(BCKDHB):c.841-1G>T
|
|
|
NM_183050.4(BCKDHB):c.841-2A>G
|
|
|
NM_183050.4(BCKDHB):c.843dup (p.His282fs)
|
|
|
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.862G>C (p.Ala288Pro)
|
rs1210713694
|
|
NM_183050.4(BCKDHB):c.880_881dup (p.Leu295fs)
|
|
|
NM_183050.4(BCKDHB):c.885del (p.Gly296fs)
|
rs398124599
|
|
NM_183050.4(BCKDHB):c.8_19dup (p.Val3_Ala6dup)
|
rs1554180793
|
|
NM_183050.4(BCKDHB):c.900A>G (p.Glu300=)
|
rs2127826950
|
|
NM_183050.4(BCKDHB):c.903C>T (p.Val301=)
|
|
|
NM_183050.4(BCKDHB):c.907_910dup (p.Leu304fs)
|
|
|
NM_183050.4(BCKDHB):c.908dup (p.Asp303fs)
|
rs1774478421
|
|
NM_183050.4(BCKDHB):c.915G>A (p.Arg305=)
|
|
|
NM_183050.4(BCKDHB):c.932A>T (p.Asp311Val)
|
|
|
NM_183050.4(BCKDHB):c.939C>T (p.Asp313=)
|
rs2127827076
|
|
NM_183050.4(BCKDHB):c.93_103del (p.Ala32fs)
|
rs398124601
|
|
NM_183050.4(BCKDHB):c.93_103dup (p.Phe35fs)
|
rs398124601
|
|
NM_183050.4(BCKDHB):c.943A>G (p.Ile315Val)
|
|
|
NM_183050.4(BCKDHB):c.94del (p.Ala32fs)
|
rs2127698980
|
|
NM_183050.4(BCKDHB):c.951+10T>C
|
|
|
NM_183050.4(BCKDHB):c.951+11A>C
|
|
|
NM_183050.4(BCKDHB):c.951+1G>A
|
rs756647770
|
|
NM_183050.4(BCKDHB):c.951+4T>C
|
rs778135997
|
|
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.952-2A>G
|
rs1554205499
|
|
NM_183050.4(BCKDHB):c.952-5T>G
|
|
|
NM_183050.4(BCKDHB):c.953C>T (p.Ser318Phe)
|
rs1562193767
|
|
NM_183050.4(BCKDHB):c.968G>C (p.Gly323Ala)
|
|
|
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.971G>A (p.Arg324Gln)
|
|
|
NM_183050.4(BCKDHB):c.975G>T (p.Leu325=)
|
|
|
NM_183050.4(BCKDHB):c.976C>T (p.Leu326=)
|
rs2127965109
|
|
NM_183050.4(BCKDHB):c.988G>A (p.Glu330Lys)
|
rs1224101411
|
|
NM_183050.4(BCKDHB):c.988del (p.Glu330fs)
|
|
|
NM_183050.4(BCKDHB):c.989A>G (p.Glu330Gly)
|
rs769446376
|
|
NM_183050.4(BCKDHB):c.98G>A (p.Arg33Gln)
|
|
|
NM_183050.4(BCKDHB):c.991G>A (p.Ala331Thr)
|
rs1777825845
|
|
NM_183050.4(BCKDHB):c.995C>T (p.Pro332Leu)
|
rs1554205541
|
|
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=)
|
|
|