NM_183050.4(BCKDHB):c.832G>A (p.Gly278Ser)
|
rs386834233
|
0.00061
|
NM_183050.4(BCKDHB):c.853C>T (p.Arg285Ter)
|
rs398124598
|
0.00015
|
NM_183050.4(BCKDHB):c.548G>C (p.Arg183Pro)
|
rs79761867
|
0.00010
|
NM_183050.4(BCKDHB):c.509G>A (p.Arg170His)
|
rs371518124
|
0.00006
|
NM_183050.4(BCKDHB):c.502C>T (p.Arg168Cys)
|
rs398124579
|
0.00004
|
NM_183050.4(BCKDHB):c.33_34del (p.Leu12fs)
|
rs398124572
|
0.00003
|
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.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
|
BCKDHB, 8-BP INS, NT1109
|
|
|
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
|
|
|
NM_001318975.1(BCKDHB):c.-70_-15+207del
|
rs1554180622
|
|
NM_183050.4(BCKDHB):c.1006G>A (p.Gly336Ser)
|
rs398124560
|
|
NM_183050.4(BCKDHB):c.1007dup (p.Phe337fs)
|
|
|
NM_183050.4(BCKDHB):c.101del (p.Gly34fs)
|
|
|
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.1039-7_1039-4del
|
rs1562242135
|
|
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.356T>G (p.Val119Gly)
|
rs121965005
|
|
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.616C>T (p.His206Tyr)
|
rs121965004
|
|
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
|
|