NM_000709.4(BCKDHA):c.1221A>G (p.Leu407=)
|
rs4674
|
0.66668
|
NM_000709.4(BCKDHA):c.972C>T (p.Phe324=)
|
rs284652
|
0.66509
|
NM_000709.4(BCKDHA):c.995+49G>A
|
rs284654
|
0.63462
|
NM_000709.4(BCKDHA):c.995+26C>T
|
rs284653
|
0.37723
|
NM_000709.3(BCKDHA):c.-34T>G
|
rs45500792
|
0.09943
|
NM_000709.4(BCKDHA):c.116C>A (p.Pro39His)
|
rs11549936
|
0.07892
|
NM_000709.4(BCKDHA):c.639C>T (p.Ile213=)
|
rs10404506
|
0.01970
|
NM_000709.4(BCKDHA):c.34C>A (p.Arg12=)
|
rs34541442
|
0.00893
|
NM_000709.4(BCKDHA):c.*125C>T
|
rs140867211
|
0.00851
|
NM_000709.4(BCKDHA):c.452C>T (p.Thr151Met)
|
rs34442879
|
0.00790
|
NM_000709.4(BCKDHA):c.996-68C>T
|
rs10407077
|
0.00784
|
NM_000709.4(BCKDHA):c.646+149A>G
|
rs78727437
|
0.00754
|
NM_000709.4(BCKDHA):c.289-45C>G
|
rs200242482
|
0.00447
|
NM_000709.4(BCKDHA):c.975C>T (p.Leu325=)
|
rs55940366
|
0.00365
|
NM_000709.4(BCKDHA):c.996-18C>T
|
rs201511678
|
0.00271
|
NM_000709.4(BCKDHA):c.485-28G>A
|
rs114178789
|
0.00186
|
NM_000709.4(BCKDHA):c.853+30C>T
|
rs150511115
|
0.00139
|
NM_000709.4(BCKDHA):c.*334C>T
|
rs528816040
|
0.00133
|
NM_000709.4(BCKDHA):c.15C>T (p.Ile5=)
|
rs17173144
|
0.00103
|
NM_000709.4(BCKDHA):c.840C>T (p.Arg280=)
|
rs61737367
|
0.00101
|
NM_000709.4(BCKDHA):c.708C>T (p.Phe236=)
|
rs146932786
|
0.00092
|
NM_000709.4(BCKDHA):c.1191C>T (p.Ala397=)
|
rs374403946
|
0.00062
|
NM_000709.4(BCKDHA):c.289-5C>T
|
rs200646708
|
0.00053
|
NM_000709.4(BCKDHA):c.1081A>G (p.Ile361Val)
|
rs61736656
|
0.00052
|
NM_000709.4(BCKDHA):c.288C>T (p.His96=)
|
rs148571328
|
0.00043
|
NM_000709.4(BCKDHA):c.63C>T (p.Ala21=)
|
rs140322984
|
0.00038
|
NM_000709.4(BCKDHA):c.646+13G>A
|
rs201333801
|
0.00038
|
NM_000709.4(BCKDHA):c.294G>A (p.Pro98=)
|
rs142967869
|
0.00029
|
NM_000709.3(BCKDHA):c.-25G>C
|
rs202084220
|
0.00028
|
NM_000709.4(BCKDHA):c.117C>A (p.Pro39=)
|
rs80014754
|
0.00028
|
NM_000709.4(BCKDHA):c.375+4C>T
|
rs377496852
|
0.00025
|
NM_000709.4(BCKDHA):c.744C>T (p.Ala248=)
|
rs137960127
|
0.00024
|
NM_000709.4(BCKDHA):c.1251C>T (p.Pro417=)
|
rs147021347
|
0.00021
|
NM_000709.4(BCKDHA):c.125A>G (p.Gln42Arg)
|
rs150177278
|
0.00021
|
NM_000709.4(BCKDHA):c.336T>G (p.Leu112=)
|
rs150700696
|
0.00020
|
NM_000709.4(BCKDHA):c.843C>T (p.Gly281=)
|
rs371343548
|
0.00019
|
NM_000709.4(BCKDHA):c.1211A>G (p.Asn404Ser)
|
rs148090804
|
0.00016
|
NM_000709.4(BCKDHA):c.213C>T (p.Asn71=)
|
rs138025447
|
0.00016
|
NM_000709.4(BCKDHA):c.420G>A (p.Thr140=)
|
rs143608852
|
0.00016
|
NM_000709.4(BCKDHA):c.924C>T (p.Asn308=)
|
rs139390622
|
0.00015
|
NM_000709.4(BCKDHA):c.*134C>T
|
rs150173947
|
0.00014
|
NM_000709.4(BCKDHA):c.995+19G>A
|
rs373076000
|
0.00014
|
NM_000709.4(BCKDHA):c.663C>T (p.Tyr221=)
|
rs151227241
|
0.00013
|
NM_000709.4(BCKDHA):c.1041G>A (p.Ser347=)
|
rs144276456
|
0.00011
|
NM_000709.4(BCKDHA):c.159G>C (p.Gln53His)
|
rs775471043
|
0.00010
|
NM_000709.4(BCKDHA):c.1233C>T (p.Asp411=)
|
rs200363605
|
0.00009
|
NM_000709.4(BCKDHA):c.1252G>A (p.Ala418Thr)
|
rs368567109
|
0.00009
|
NM_000709.4(BCKDHA):c.1329C>T (p.Phe443=)
|
rs148224513
|
0.00008
|
NM_000709.4(BCKDHA):c.176C>T (p.Ala59Val)
|
rs138373035
|
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_000709.4(BCKDHA):c.1020C>T (p.Asp340=)
|
rs548045051
|
0.00005
|
NM_000709.4(BCKDHA):c.174G>A (p.Ser58=)
|
rs576803251
|
0.00005
|
NM_000709.4(BCKDHA):c.*68G>A
|
rs375492462
|
0.00004
|
NM_000709.4(BCKDHA):c.1080C>T (p.Pro360=)
|
rs373390136
|
0.00004
|
NM_000709.4(BCKDHA):c.351C>T (p.Arg117=)
|
rs573976272
|
0.00004
|
NM_000709.4(BCKDHA):c.921C>T (p.Tyr307=)
|
rs758972542
|
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_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
|
NC_000019.10:g.41397669T>A
|
rs530303012
|
|
NM_000709.3(BCKDHA):c.-22C>A
|
rs201197268
|
|
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.114C>G (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+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+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.471G>A (p.Gln157=)
|
|
|
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.648G>T (p.Ala216=)
|
rs114716391
|
|
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.819G>C (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.996-33dup
|
rs3217385
|
|
NM_000709.4(BCKDHA):c.996-6G>C
|
rs74586298
|
|
NM_000709.4(BCKDHA):c.996-8C>T
|
|
|
NM_000709.4(BCKDHA):c.996-9C>G
|
rs2039386647
|
|