NM_183050.4(BCKDHB):c.832G>A (p.Gly278Ser)
|
rs386834233
|
0.00061
|
NM_001918.5(DBT):c.901C>T (p.Arg301Cys)
|
rs185492864
|
0.00025
|
NM_001918.5(DBT):c.670G>T (p.Glu224Ter)
|
rs74103423
|
0.00022
|
NM_183050.4(BCKDHB):c.853C>T (p.Arg285Ter)
|
rs398124598
|
0.00015
|
NM_000709.4(BCKDHA):c.1312T>A (p.Tyr438Asn)
|
rs137852870
|
0.00013
|
NM_001918.5(DBT):c.827T>G (p.Phe276Cys)
|
rs121964999
|
0.00011
|
NM_183050.4(BCKDHB):c.548G>C (p.Arg183Pro)
|
rs79761867
|
0.00010
|
NM_000709.4(BCKDHA):c.853G>C (p.Ala285Pro)
|
rs398123508
|
0.00009
|
NM_183050.4(BCKDHB):c.509G>A (p.Arg170His)
|
rs371518124
|
0.00006
|
NM_001918.5(DBT):c.1018-550A>G
|
rs796052135
|
0.00004
|
NM_001918.5(DBT):c.75_76del (p.Cys26fs)
|
rs768832921
|
0.00004
|
NM_183050.4(BCKDHB):c.502C>T (p.Arg168Cys)
|
rs398124579
|
0.00004
|
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.370C>T (p.Arg124Trp)
|
rs398123499
|
0.00003
|
NM_000709.4(BCKDHA):c.890G>A (p.Arg297His)
|
rs200137189
|
0.00003
|
NM_001918.5(DBT):c.252G>T (p.Trp84Cys)
|
rs200638406
|
0.00003
|
NM_183050.4(BCKDHB):c.33_34del (p.Leu12fs)
|
rs398124572
|
0.00003
|
NM_000709.4(BCKDHA):c.1087C>T (p.Arg363Trp)
|
rs942815730
|
0.00002
|
NM_000709.4(BCKDHA):c.288+1G>A
|
rs398123496
|
0.00002
|
NM_000709.4(BCKDHA):c.565C>T (p.Arg189Cys)
|
rs886042356
|
0.00002
|
NM_000709.4(BCKDHA):c.659C>T (p.Ala220Val)
|
rs375785084
|
0.00002
|
NM_000709.4(BCKDHA):c.889C>T (p.Arg297Cys)
|
rs145901144
|
0.00002
|
NM_001918.5(DBT):c.401C>T (p.Pro134Leu)
|
rs1131691488
|
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_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.1061G>A (p.Trp354Ter)
|
rs1214763792
|
0.00001
|
NM_000709.4(BCKDHA):c.1069C>T (p.Gln357Ter)
|
rs762199542
|
0.00001
|
NM_000709.4(BCKDHA):c.1234G>A (p.Val412Met)
|
rs398123490
|
0.00001
|
NM_000709.4(BCKDHA):c.127C>T (p.Gln43Ter)
|
rs374625613
|
0.00001
|
NM_000709.4(BCKDHA):c.130C>T (p.Gln44Ter)
|
rs1220443382
|
0.00001
|
NM_000709.4(BCKDHA):c.475C>T (p.Arg159Trp)
|
rs769688327
|
0.00001
|
NM_000709.4(BCKDHA):c.476G>A (p.Arg159Gln)
|
rs773048903
|
0.00001
|
NM_000709.4(BCKDHA):c.632C>T (p.Thr211Met)
|
rs398123503
|
0.00001
|
NM_000709.4(BCKDHA):c.647-1G>C
|
rs753216964
|
0.00001
|
NM_000709.4(BCKDHA):c.647C>T (p.Ala216Val)
|
rs369448982
|
0.00001
|
NM_000709.4(BCKDHA):c.745G>A (p.Gly249Ser)
|
rs137852874
|
0.00001
|
NM_000709.4(BCKDHA):c.757G>A (p.Ala253Thr)
|
rs199599175
|
0.00001
|
NM_000709.4(BCKDHA):c.793C>T (p.Arg265Trp)
|
rs137852873
|
0.00001
|
NM_000709.4(BCKDHA):c.854-2A>G
|
rs760494152
|
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.929C>G (p.Thr310Arg)
|
rs137852875
|
0.00001
|
NM_000709.4(BCKDHA):c.940C>T (p.Arg314Ter)
|
rs753698250
|
0.00001
|
NM_000709.4(BCKDHA):c.979G>A (p.Glu327Lys)
|
rs398123515
|
0.00001
|
NM_001918.5(DBT):c.1017G>A (p.Lys339=)
|
rs1490661508
|
0.00001
|
NM_001918.5(DBT):c.1291C>T (p.Arg431Ter)
|
rs398123660
|
0.00001
|
NM_001918.5(DBT):c.1430T>G (p.Met477Arg)
|
rs398123662
|
0.00001
|
NM_001918.5(DBT):c.206T>C (p.Leu69Pro)
|
rs1663813561
|
0.00001
|
NM_001918.5(DBT):c.365A>G (p.Tyr122Cys)
|
rs727503896
|
0.00001
|
NM_001918.5(DBT):c.434-15_434-4del
|
rs727503895
|
0.00001
|
NM_001918.5(DBT):c.52-1G>A
|
rs755914063
|
0.00001
|
NM_001918.5(DBT):c.871C>T (p.Arg291Ter)
|
rs398123675
|
0.00001
|
NM_001918.5(DBT):c.902G>A (p.Arg301His)
|
rs770981889
|
0.00001
|
NM_001918.5(DBT):c.939G>C (p.Lys313Asn)
|
rs398123676
|
0.00001
|
NM_183050.4(BCKDHB):c.1067C>T (p.Pro356Leu)
|
rs1304667430
|
0.00001
|
NM_183050.4(BCKDHB):c.1159C>T (p.Arg387Ter)
|
rs751599203
|
0.00001
|
NM_183050.4(BCKDHB):c.152del (p.Val51fs)
|
rs867612284
|
0.00001
|
NM_183050.4(BCKDHB):c.181G>T (p.Glu61Ter)
|
rs774916970
|
0.00001
|
NM_183050.4(BCKDHB):c.1A>T (p.Met1Leu)
|
rs1005542482
|
0.00001
|
NM_183050.4(BCKDHB):c.302G>A (p.Gly101Asp)
|
rs398124571
|
0.00001
|
NM_183050.4(BCKDHB):c.410C>T (p.Ala137Val)
|
rs776631396
|
0.00001
|
NM_183050.4(BCKDHB):c.554C>T (p.Pro185Leu)
|
rs148905512
|
0.00001
|
NM_183050.4(BCKDHB):c.564T>A (p.Cys188Ter)
|
rs774306610
|
0.00001
|
NM_183050.4(BCKDHB):c.633+1G>A
|
rs398124589
|
0.00001
|
NM_183050.4(BCKDHB):c.641T>A (p.Ile214Lys)
|
rs796051940
|
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.970C>T (p.Arg324Ter)
|
rs398124603
|
0.00001
|
NC_000001.10:g.(?_100652477)_(100661979_100671785)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.(?_100240751)_(100240894_?)del
|
|
|
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.(?_80877385)_(80878757_?)del
|
|
|
NC_000006.11:g.(?_80880989)_(81055997_?)del
|
|
|
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_000019.10:g.(?_41397818)_(41414167_?)del
|
|
|
NC_000019.10:g.(?_41424428)_(41424831_?)del
|
|
|
NC_000019.9:g.(?_41903723)_(41903850_?)del
|
|
|
NC_000019.9:g.(?_41903723)_(41916924_?)del
|
|
|
NC_000019.9:g.(?_41903723)_(41930736_?)del
|
|
|
NC_000019.9:g.(?_41916532)_(41920072_?)del
|
|
|
NC_000019.9:g.(?_41925030)_(41930736_?)del
|
|
|
NM_000709.4(BCKDHA):c.1008_1015del (p.His336fs)
|
rs1330793674
|
|
NM_000709.4(BCKDHA):c.1028C>G (p.Ser343Ter)
|
rs774735002
|
|
NM_000709.4(BCKDHA):c.109-1G>A
|
rs2123253583
|
|
NM_000709.4(BCKDHA):c.1110_1119del (p.Gln371fs)
|
rs1599962569
|
|
NM_000709.4(BCKDHA):c.1119G>A (p.Trp373Ter)
|
rs765543886
|
|
NM_000709.4(BCKDHA):c.1121G>A (p.Trp374Ter)
|
|
|
NM_000709.4(BCKDHA):c.1137del (p.Lys380fs)
|
|
|
NM_000709.4(BCKDHA):c.1167+1del
|
rs1555767169
|
|
NM_000709.4(BCKDHA):c.1168-2A>G
|
rs1555767285
|
|
NM_000709.4(BCKDHA):c.116_117dup (p.Arg40fs)
|
rs398123489
|
|
NM_000709.4(BCKDHA):c.117del (p.Arg40fs)
|
rs398123489
|
|
NM_000709.4(BCKDHA):c.117dup (p.Arg40fs)
|
rs398123489
|
|
NM_000709.4(BCKDHA):c.1198A>T (p.Lys400Ter)
|
rs863225262
|
|
NM_000709.4(BCKDHA):c.1226T>G (p.Phe409Cys)
|
rs137852872
|
|
NM_000709.4(BCKDHA):c.1237dup (p.Tyr413fs)
|
|
|
NM_000709.4(BCKDHA):c.1280_1282del (p.Leu427_Ala428delinsPro)
|
rs755691417
|
|
NM_000709.4(BCKDHA):c.12_13insGACGGGCGAGGTGGCTCACGCCTGAAATCCCAGCACTATGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGANNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAGATGGCGGTAGCG (p.Ile5fs)
|
|
|
NM_000709.4(BCKDHA):c.1306G>T (p.Glu436Ter)
|
rs1298823471
|
|
NM_000709.4(BCKDHA):c.1310_1311del (p.His437fs)
|
rs398123492
|
|
NM_000709.4(BCKDHA):c.143del (p.Leu48fs)
|
rs1555765593
|
|
NM_000709.4(BCKDHA):c.14del (p.Ile5fs)
|
rs398123494
|
|
NM_000709.4(BCKDHA):c.253C>T (p.Gln85Ter)
|
|
|
NM_000709.4(BCKDHA):c.277G>T (p.Glu93Ter)
|
|
|
NM_000709.4(BCKDHA):c.318C>G (p.Tyr106Ter)
|
|
|
NM_000709.4(BCKDHA):c.319A>T (p.Lys107Ter)
|
|
|
NM_000709.4(BCKDHA):c.332T>C (p.Leu111Pro)
|
rs1568503938
|
|
NM_000709.4(BCKDHA):c.33G>A (p.Trp11Ter)
|
rs1207966026
|
|
NM_000709.4(BCKDHA):c.347A>G (p.Asp116Gly)
|
rs398123498
|
|
NM_000709.4(BCKDHA):c.357_358del (p.Leu119_Tyr120insTer)
|
rs2123254646
|
|
NM_000709.4(BCKDHA):c.367C>T (p.Gln123Ter)
|
rs2039247540
|
|
NM_000709.4(BCKDHA):c.379C>T (p.Arg127Trp)
|
|
|
NM_000709.4(BCKDHA):c.399delinsAA (p.Asn134fs)
|
rs1057519059
|
|
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.454G>A (p.Asp152Asn)
|
rs2122122610
|
|
NM_000709.4(BCKDHA):c.470A>C (p.Gln157Pro)
|
rs869312125
|
|
NM_000709.4(BCKDHA):c.507C>G (p.Tyr169Ter)
|
|
|
NM_000709.4(BCKDHA):c.511del (p.Leu171fs)
|
rs762084007
|
|
NM_000709.4(BCKDHA):c.529C>T (p.Gln177Ter)
|
|
|
NM_000709.4(BCKDHA):c.554del (p.Leu185fs)
|
rs1568506608
|
|
NM_000709.4(BCKDHA):c.55C>T (p.Gln19Ter)
|
|
|
NM_000709.4(BCKDHA):c.644_645del (p.Gln215fs)
|
|
|
NM_000709.4(BCKDHA):c.653G>C (p.Gly218Ala)
|
rs2039372961
|
|
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.67del (p.Leu23fs)
|
|
|
NM_000709.4(BCKDHA):c.699_700del (p.Ile233fs)
|
|
|
NM_000709.4(BCKDHA):c.701_702del (p.Cys234fs)
|
rs2122142979
|
|
NM_000709.4(BCKDHA):c.712G>T (p.Glu238Ter)
|
rs1303770209
|
|
NM_000709.4(BCKDHA):c.718del (p.Ala240fs)
|
rs1555766993
|
|
NM_000709.4(BCKDHA):c.740A>G (p.His247Arg)
|
rs1468416468
|
|
NM_000709.4(BCKDHA):c.741dup (p.Ala248fs)
|
rs398123504
|
|
NM_000709.4(BCKDHA):c.761C>A (p.Ala254Asp)
|
rs373713279
|
|
NM_000709.4(BCKDHA):c.773_774delinsAA (p.Cys258Ter)
|
rs2122143379
|
|
NM_000709.4(BCKDHA):c.776C>T (p.Pro259Leu)
|
rs2122143393
|
|
NM_000709.4(BCKDHA):c.782TCT[2] (p.Phe263del)
|
rs398123505
|
|
NM_000709.4(BCKDHA):c.78del (p.Gln27fs)
|
rs2123232769
|
|
NM_000709.4(BCKDHA):c.792C>G (p.Cys264Trp)
|
rs137852876
|
|
NM_000709.4(BCKDHA):c.794G>A (p.Arg265Gln)
|
rs761996996
|
|
NM_000709.4(BCKDHA):c.794G>C (p.Arg265Pro)
|
rs761996996
|
|
NM_000709.4(BCKDHA):c.796_797delinsT (p.Asn266fs)
|
|
|
NM_000709.4(BCKDHA):c.835del (p.Tyr279fs)
|
|
|
NM_000709.4(BCKDHA):c.844G>C (p.Asp282His)
|
rs869312124
|
|
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.905A>C (p.Asp302Ala)
|
rs398123509
|
|
NM_000709.4(BCKDHA):c.909_910del (p.Phe304fs)
|
rs398123510
|
|
NM_000709.4(BCKDHA):c.964C>T (p.Gln322Ter)
|
rs398123513
|
|
NM_001318975.1(BCKDHB):c.-70_-15+207del
|
rs1554180622
|
|
NM_001918.5(DBT):c.1033G>A (p.Gly345Arg)
|
rs869312132
|
|
NM_001918.5(DBT):c.1082dup (p.Asn361fs)
|
rs1570806631
|
|
NM_001918.5(DBT):c.1132C>T (p.Gln378Ter)
|
|
|
NM_001918.5(DBT):c.113_114del (p.Cys38fs)
|
rs2100844690
|
|
NM_001918.5(DBT):c.1195T>G (p.Ser399Ala)
|
rs1553229654
|
|
NM_001918.5(DBT):c.1195del (p.Ser399fs)
|
rs2100779888
|
|
NM_001918.5(DBT):c.1209+1G>A
|
rs1661795778
|
|
NM_001918.5(DBT):c.1232C>T (p.Pro411Leu)
|
rs2100779419
|
|
NM_001918.5(DBT):c.1264dup (p.Ala422fs)
|
rs1401829291
|
|
NM_001918.5(DBT):c.126T>G (p.Tyr42Ter)
|
rs794727262
|
|
NM_001918.5(DBT):c.1281+2T>A
|
rs2100779270
|
|
NM_001918.5(DBT):c.1292G>C (p.Arg431Pro)
|
rs776490043
|
|
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.1382C>A (p.Ser461Ter)
|
rs1553228626
|
|
NM_001918.5(DBT):c.1385G>C (p.Arg462Pro)
|
rs750594890
|
|
NM_001918.5(DBT):c.143_146dup (p.His49fs)
|
rs1384034981
|
|
NM_001918.5(DBT):c.17dup (p.Met6fs)
|
rs2100772715
|
|
NM_001918.5(DBT):c.241_242del (p.Thr80_Val81insTer)
|
rs2100834784
|
|
NM_001918.5(DBT):c.247del (p.Glu83fs)
|
|
|
NM_001918.5(DBT):c.260AAG[1] (p.Glu88del)
|
rs1217050849
|
|
NM_001918.5(DBT):c.261del (p.Glu88fs)
|
rs1570836175
|
|
NM_001918.5(DBT):c.272_275del (p.Thr91fs)
|
rs398123666
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|
NM_001918.5(DBT):c.280C>T (p.Gln94Ter)
|
|
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NM_001918.5(DBT):c.29G>A (p.Trp10Ter)
|
rs572340170
|
|
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.363_364del (p.Tyr122fs)
|
rs753574354
|
|
NM_001918.5(DBT):c.364dup (p.Tyr122fs)
|
|
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NM_001918.5(DBT):c.365_366del (p.Tyr122fs)
|
rs2100827350
|
|
NM_001918.5(DBT):c.437C>A (p.Ser146Ter)
|
|
|
NM_001918.5(DBT):c.442G>T (p.Glu148Ter)
|
rs1570820579
|
|
NM_001918.5(DBT):c.457del (p.Thr153fs)
|
|
|
NM_001918.5(DBT):c.488_489del (p.His163fs)
|
rs760861011
|
|
NM_001918.5(DBT):c.501_513del (p.Lys167fs)
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|
|
NM_001918.5(DBT):c.51+1G>T
|
rs398123669
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|
NM_001918.5(DBT):c.516_522del (p.Ala173fs)
|
rs2100804340
|
|
NM_001918.5(DBT):c.52-1G>C
|
rs755914063
|
|
NM_001918.5(DBT):c.531_537del (p.Arg178fs)
|
rs1372109444
|
|
NM_001918.5(DBT):c.555dup (p.Ile186fs)
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|
|
NM_001918.5(DBT):c.581C>A (p.Ser194Ter)
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|
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NM_001918.5(DBT):c.634C>T (p.Gln212Ter)
|
rs1553230841
|
|
NM_001918.5(DBT):c.639del (p.Gly214fs)
|
|
|
NM_001918.5(DBT):c.650dup (p.Leu217fs)
|
|
|
NM_001918.5(DBT):c.663_670del (p.Lys222fs)
|
rs748851630
|
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NM_001918.5(DBT):c.725C>G (p.Ser242Ter)
|
rs201559874
|
|
NM_001918.5(DBT):c.762del (p.Glu254fs)
|
rs2100799447
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|
NM_001918.5(DBT):c.783del (p.Ala262fs)
|
|
|
NM_001918.5(DBT):c.788T>C (p.Met263Thr)
|
rs1553230703
|
|
NM_001918.5(DBT):c.799_800del (p.Met267fs)
|
|
|
NM_001918.5(DBT):c.828del (p.Phe276fs)
|
|
|
NM_001918.5(DBT):c.872G>T (p.Arg291Leu)
|
rs775808731
|
|
NM_001918.5(DBT):c.881T>A (p.Leu294Ter)
|
|
|
NM_001918.5(DBT):c.910_919del (p.Lys304fs)
|
rs2100797119
|
|
NM_001918.5(DBT):c.916T>C (p.Ser306Pro)
|
rs2100797134
|
|
NM_001918.5(DBT):c.947_950del (p.Ser316fs)
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|
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NM_001918.5(DBT):c.961C>T (p.Gln321Ter)
|
rs1662088383
|
|
NM_001918.5(DBT):c.961_962del (p.Gln321fs)
|
rs2100788460
|
|
NM_183050.4(BCKDHB):c.1006G>A (p.Gly336Ser)
|
rs398124560
|
|
NM_183050.4(BCKDHB):c.1007dup (p.Phe337fs)
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|
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NM_183050.4(BCKDHB):c.101del (p.Gly34fs)
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|
|
NM_183050.4(BCKDHB):c.1022T>A (p.Ile341Asn)
|
rs796051939
|
|
NM_183050.4(BCKDHB):c.1037A>G (p.Gln346Arg)
|
rs2127965290
|
|
NM_183050.4(BCKDHB):c.1039-2A>G
|
rs2128020522
|
|
NM_183050.4(BCKDHB):c.1042G>T (p.Glu348Ter)
|
|
|
NM_183050.4(BCKDHB):c.1046G>A (p.Cys349Tyr)
|
rs398124562
|
|
NM_183050.4(BCKDHB):c.1065del (p.Pro356fs)
|
rs869312129
|
|
NM_183050.4(BCKDHB):c.107dup (p.Leu36fs)
|
rs1769085821
|
|
NM_183050.4(BCKDHB):c.1095_1096del (p.Pro366fs)
|
|
|
NM_183050.4(BCKDHB):c.1114G>T (p.Glu372Ter)
|
rs386834234
|
|
NM_183050.4(BCKDHB):c.1149T>A (p.Tyr383Ter)
|
rs190867671
|
|
NM_183050.4(BCKDHB):c.169C>T (p.Gln57Ter)
|
rs1554181192
|
|
NM_183050.4(BCKDHB):c.195C>G (p.Tyr65Ter)
|
|
|
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.197-1G>C
|
|
|
NM_183050.4(BCKDHB):c.197-2A>C
|
|
|
NM_183050.4(BCKDHB):c.197-2A>G
|
rs869312127
|
|
NM_183050.4(BCKDHB):c.1A>G (p.Met1Val)
|
rs1005542482
|
|
NM_183050.4(BCKDHB):c.21dup (p.Ala8fs)
|
rs2127698713
|
|
NM_183050.4(BCKDHB):c.234_249del (p.Ser79fs)
|
rs2127726128
|
|
NM_183050.4(BCKDHB):c.235del (p.Ser79fs)
|
|
|
NM_183050.4(BCKDHB):c.25_35dup (p.Arg13fs)
|
rs2127698743
|
|
NM_183050.4(BCKDHB):c.272del (p.Ala91fs)
|
rs2127726212
|
|
NM_183050.4(BCKDHB):c.275-2A>G
|
rs1554184224
|
|
NM_183050.4(BCKDHB):c.281_291del (p.Phe94fs)
|
rs1380402024
|
|
NM_183050.4(BCKDHB):c.293T>G (p.Val98Gly)
|
rs869312126
|
|
NM_183050.4(BCKDHB):c.29_32del (p.Trp10fs)
|
|
|
NM_183050.4(BCKDHB):c.2T>C (p.Met1Thr)
|
rs940391887
|
|
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>T (p.Arg111Ter)
|
rs371117671
|
|
NM_183050.4(BCKDHB):c.342T>G (p.Tyr114Ter)
|
rs398124573
|
|
NM_183050.4(BCKDHB):c.343+2T>G
|
rs1554184237
|
|
NM_183050.4(BCKDHB):c.348del (p.Asp117fs)
|
rs1400121541
|
|
NM_183050.4(BCKDHB):c.352dup (p.Arg118fs)
|
|
|
NM_183050.4(BCKDHB):c.368del (p.Pro123fs)
|
rs1085307058
|
|
NM_183050.4(BCKDHB):c.392G>T (p.Gly131Val)
|
rs774472182
|
|
NM_183050.4(BCKDHB):c.396del (p.Phe132fs)
|
rs1562102740
|
|
NM_183050.4(BCKDHB):c.3G>A (p.Met1Ile)
|
rs869312128
|
|
NM_183050.4(BCKDHB):c.401T>A (p.Ile134Asn)
|
rs869312130
|
|
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.477+1G>A
|
rs1002472211
|
|
NM_183050.4(BCKDHB):c.487G>T (p.Glu163Ter)
|
rs1057516799
|
|
NM_183050.4(BCKDHB):c.496A>T (p.Lys166Ter)
|
rs1772735425
|
|
NM_183050.4(BCKDHB):c.503G>A (p.Arg168His)
|
rs749033513
|
|
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.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.547C>T (p.Arg183Trp)
|
rs149766077
|
|
NM_183050.4(BCKDHB):c.550del (p.Ser184fs)
|
|
|
NM_183050.4(BCKDHB):c.57_64dup (p.His22fs)
|
rs1410520713
|
|
NM_183050.4(BCKDHB):c.580C>T (p.Leu194Phe)
|
|
|
NM_183050.4(BCKDHB):c.583dup (p.Tyr195fs)
|
rs1772747408
|
|
NM_183050.4(BCKDHB):c.585T>A (p.Tyr195Ter)
|
|
|
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.612del (p.Phe204fs)
|
rs1210649507
|
|
NM_183050.4(BCKDHB):c.633+1G>T
|
rs398124589
|
|
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.68G>A (p.Trp23Ter)
|
|
|
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.730del (p.Tyr244fs)
|
rs1057516572
|
|
NM_183050.4(BCKDHB):c.745G>T (p.Glu249Ter)
|
rs1774361781
|
|
NM_183050.4(BCKDHB):c.748G>T (p.Glu250Ter)
|
rs398124592
|
|
NM_183050.4(BCKDHB):c.756_759del (p.Ile253fs)
|
|
|
NM_183050.4(BCKDHB):c.75del (p.Leu26fs)
|
|
|
NM_183050.4(BCKDHB):c.803_806del (p.Glu268fs)
|
|
|
NM_183050.4(BCKDHB):c.811_824del (p.Asp271fs)
|
rs1554194690
|
|
NM_183050.4(BCKDHB):c.817A>C (p.Thr273Pro)
|
rs398124595
|
|
NM_183050.4(BCKDHB):c.818C>T (p.Thr273Ile)
|
|
|
NM_183050.4(BCKDHB):c.830G>A (p.Trp277Ter)
|
rs1774369632
|
|
NM_183050.4(BCKDHB):c.840+2T>G
|
rs398124596
|
|
NM_183050.4(BCKDHB):c.843dup (p.His282fs)
|
|
|
NM_183050.4(BCKDHB):c.880_881dup (p.Leu295fs)
|
|
|
NM_183050.4(BCKDHB):c.885del (p.Gly296fs)
|
rs398124599
|
|
NM_183050.4(BCKDHB):c.907_910dup (p.Leu304fs)
|
|
|
NM_183050.4(BCKDHB):c.908dup (p.Asp303fs)
|
rs1774478421
|
|
NM_183050.4(BCKDHB):c.932A>T (p.Asp311Val)
|
|
|
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.94del (p.Ala32fs)
|
rs2127698980
|
|
NM_183050.4(BCKDHB):c.964A>G (p.Thr322Ala)
|
rs869312131
|
|
NM_183050.4(BCKDHB):c.988G>A (p.Glu330Lys)
|
rs1224101411
|
|
NM_183050.4(BCKDHB):c.988del (p.Glu330fs)
|
|
|
NM_183050.4(BCKDHB):c.995C>T (p.Pro332Leu)
|
rs1554205541
|
|