ClinVar Miner

List of variants in gene BCKDHB studied for inborn disorder of branched-chain amino acid metabolism

Included ClinVar conditions (11):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 705
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_183050.4(BCKDHB):c.*395G>T rs4706116 0.95752
NM_183050.4(BCKDHB):c.*627T>C rs4706838 0.78227
NM_183050.4(BCKDHB):c.*2271G>A rs15062 0.78187
NM_183050.4(BCKDHB):c.*994G>A rs4502885 0.78179
NM_183050.4(BCKDHB):c.*1875G>A rs7759304 0.78177
NM_183050.4(BCKDHB):c.*2282C>T rs10864 0.78176
NM_183050.4(BCKDHB):c.*1892T>C rs7740958 0.78169
NM_183050.4(BCKDHB):c.*1778A>G rs7758761 0.78168
NM_183050.4(BCKDHB):c.*304G>A rs926731 0.78168
NM_183050.4(BCKDHB):c.*1241A>G rs1042368 0.78159
NM_183050.4(BCKDHB):c.*293T>C rs926732 0.78149
NM_183050.4(BCKDHB):c.*1810T>C rs7740932 0.78143
NM_183050.4(BCKDHB):c.*789C>T rs4706118 0.78112
NM_183050.4(BCKDHB):c.*805T>C rs4706839 0.78101
NM_183050.4(BCKDHB):c.*121G>A rs926733 0.77743
NM_183050.4(BCKDHB):c.*1444T>C rs3805848 0.77735
NM_183050.4(BCKDHB):c.*1142C>G rs1042367 0.75871
NM_183050.4(BCKDHB):c.*345C>T rs1811844 0.66759
NM_183050.4(BCKDHB):c.841-73C>T rs3828753 0.60052
NM_183050.4(BCKDHB):c.197-11G>T rs9448894 0.42545
NM_183050.4(BCKDHB):c.*731C>T rs4706117 0.39858
NM_183050.4(BCKDHB):c.952-151G>A rs9341811 0.37802
NM_183050.4(BCKDHB):c.197-25A>G rs9448893 0.35785
NM_183050.4(BCKDHB):c.*832C>T rs60566469 0.06661
NM_183050.4(BCKDHB):c.344-24C>T rs73479953 0.06567
NM_183050.4(BCKDHB):c.344-88C>T rs73479950 0.06563
NM_183050.4(BCKDHB):c.*236G>A rs145101575 0.04280
NM_183050.4(BCKDHB):c.*1158T>G rs74705661 0.01826
NM_183050.4(BCKDHB):c.*726A>G rs147544283 0.01811
NM_183050.4(BCKDHB):c.*440A>T rs113404985 0.01152
NM_183050.4(BCKDHB):c.122C>T (p.Thr41Ile) rs35470366 0.00394
NM_183050.4(BCKDHB):c.*2212T>C rs191556844 0.00257
NM_183050.4(BCKDHB):c.*1798C>T rs535334878 0.00251
NM_183050.4(BCKDHB):c.742+16A>G rs140373763 0.00220
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_183050.4(BCKDHB):c.633+16T>C rs373772596 0.00089
NM_183050.4(BCKDHB):c.633G>C (p.Lys211Asn) rs143427811 0.00086
NM_183050.4(BCKDHB):c.86C>T (p.Ala29Val) rs9448884 0.00068
NM_183050.4(BCKDHB):c.832G>A (p.Gly278Ser) rs386834233 0.00061
NM_183050.4(BCKDHB):c.*1603G>A rs143744799 0.00057
NM_183050.4(BCKDHB):c.*1554C>G rs563993638 0.00054
NM_183050.4(BCKDHB):c.*83C>T rs564127416 0.00052
NM_183050.4(BCKDHB):c.*1010A>G rs536048070 0.00044
NM_183050.4(BCKDHB):c.411G>A (p.Ala137=) rs142858149 0.00039
NM_183050.4(BCKDHB):c.744G>A (p.Ala248=) rs147719822 0.00026
NM_183050.4(BCKDHB):c.*574A>G rs527284649 0.00023
NM_183050.4(BCKDHB):c.*1315G>A rs760136719 0.00020
NM_183050.4(BCKDHB):c.*2072C>T rs183153737 0.00020
NM_183050.4(BCKDHB):c.*921C>T rs542630714 0.00020
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_183050.4(BCKDHB):c.1143G>A (p.Lys381=) rs143579400 0.00016
NM_183050.4(BCKDHB):c.853C>T (p.Arg285Ter) rs398124598 0.00015
NM_183050.4(BCKDHB):c.168C>T (p.Phe56=) rs747705382 0.00013
NM_183050.4(BCKDHB):c.548G>C (p.Arg183Pro) rs79761867 0.00010
NM_183050.4(BCKDHB):c.*466G>T rs886061809 0.00009
NM_183050.4(BCKDHB):c.*569G>A rs1000319023 0.00008
NM_183050.4(BCKDHB):c.*644C>T rs535962304 0.00008
NM_183050.4(BCKDHB):c.*763G>A rs563470467 0.00008
NM_183050.4(BCKDHB):c.840+10A>G rs561940940 0.00008
NM_183050.4(BCKDHB):c.*2224T>A rs1037438345 0.00007
NM_183050.4(BCKDHB):c.*1908A>G rs368380717 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_183050.4(BCKDHB):c.1168A>G (p.Ile390Val) rs753690047 0.00005
NM_183050.4(BCKDHB):c.197-16T>C rs759961267 0.00005
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.727C>T (p.Leu243Phe) rs398124591 0.00004
NM_183050.4(BCKDHB):c.840+15T>C rs764829376 0.00004
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_183050.4(BCKDHB):c.*2018A>G rs1049658494 0.00002
NM_183050.4(BCKDHB):c.*2245C>G rs537076572 0.00002
NM_183050.4(BCKDHB):c.*922A>G rs371667903 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.268A>G (p.Thr90Ala) rs894467213 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.528C>G (p.Asn176Lys) rs763645251 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.79C>T (p.Pro27Ser) rs955755199 0.00002
NM_183050.4(BCKDHB):c.92T>C (p.Leu31Pro) rs763434607 0.00002
NM_183050.4(BCKDHB):c.*896A>G rs886061811 0.00001
NM_183050.4(BCKDHB):c.1023del (p.Ser342fs) rs776270090 0.00001
NM_183050.4(BCKDHB):c.1025G>C (p.Ser342Thr) rs759040971 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.1145G>A (p.Cys382Tyr) rs1202365275 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.119C>T (p.Ala40Val) rs752892659 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.508C>G (p.Arg170Gly) rs398124581 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.529T>C (p.Cys177Arg) rs398124583 0.00001
NM_183050.4(BCKDHB):c.554C>T (p.Pro185Leu) rs148905512 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
BCKDHB, 8-BP INS, NT1109
NC_000006.11:g.(80881108_80910650)_(80982939_81053380)dup
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)_(80837361_?)del
NC_000006.11:g.(?_80816411)_(80912949_?)del
NC_000006.11:g.(?_80816411)_(81053521_?)del
NC_000006.11:g.(?_80837244)_(80838966_?)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.(?_80910631)_(80912949_?)del
NC_000006.11:g.(?_80910641)_(80982948_?)dup
NC_000006.11:g.(?_80910651)_(80910770_?)del
NC_000006.11:g.(?_80982832)_(81053521_?)del
NC_000006.11:g.(?_81053361)_(81053521_?)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
NM_001318975.1(BCKDHB):c.-70_-15+207del rs1554180622
NM_183050.3(BCKDHB):c.-41C>T rs763746493
NM_183050.4(BCKDHB):c.*1008T>C rs1283478954
NM_183050.4(BCKDHB):c.*1143A>G rs1770126804
NM_183050.4(BCKDHB):c.*1162T>C rs886061812
NM_183050.4(BCKDHB):c.*1239dup rs772846294
NM_183050.4(BCKDHB):c.*1279A>G rs1770137265
NM_183050.4(BCKDHB):c.*13G>A rs398124559
NM_183050.4(BCKDHB):c.*1909T>C rs529166544
NM_183050.4(BCKDHB):c.*2224dup rs757446051
NM_183050.4(BCKDHB):c.*263C>A rs533006469
NM_183050.4(BCKDHB):c.*501A>G rs1770079109
NM_183050.4(BCKDHB):c.*540T>C rs201154827
NM_183050.4(BCKDHB):c.*559_*560del rs10579475
NM_183050.4(BCKDHB):c.*559_*560dup rs10579475
NM_183050.4(BCKDHB):c.*560dup rs10579475
NM_183050.4(BCKDHB):c.*777G>C rs954822411
NM_183050.4(BCKDHB):c.-15C>T rs747088249
NM_183050.4(BCKDHB):c.-22_4del (p.Met1fs) rs1582146275
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+12T>G
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.1039-2A>G rs2128020522
NM_183050.4(BCKDHB):c.1039-5T>C rs879095937
NM_183050.4(BCKDHB):c.1039-7_1039-4del rs1562242135
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.1090G>A (p.Asp364Asn) rs1060499715
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.1112T>C (p.Phe371Ser) rs750930993
NM_183050.4(BCKDHB):c.1114G>T (p.Glu372Ter) rs386834234
NM_183050.4(BCKDHB):c.1115A>T (p.Glu372Val) rs1554216344
NM_183050.4(BCKDHB):c.1119A>G (p.Pro373=)
NM_183050.4(BCKDHB):c.1119del (p.Phe374fs) rs797045411
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.1144T>C (p.Cys382Arg) rs727503822
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.1173C>A (p.Asn391Lys)
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.139_149del (p.Gln47fs) rs1057517414
NM_183050.4(BCKDHB):c.139del (p.Gln47fs)
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.14dup (p.Ala6fs)
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.163_164del (p.Thr55fs)
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.18_27del (p.Ala7fs) rs1057516781
NM_183050.4(BCKDHB):c.193T>G (p.Tyr65Asp) rs1209549339
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+12G>A
NM_183050.4(BCKDHB):c.196+13A>G
NM_183050.4(BCKDHB):c.196+18C>G
NM_183050.4(BCKDHB):c.196+1G>A
NM_183050.4(BCKDHB):c.196+1G>C rs1554181203
NM_183050.4(BCKDHB):c.196+1G>T rs1554181203
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.197-12dup rs201800966
NM_183050.4(BCKDHB):c.197-15_197-14insA
NM_183050.4(BCKDHB):c.197-18T>G
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.197-5C>T rs1374556799
NM_183050.4(BCKDHB):c.199C>T (p.Gln67Ter)
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.201A>G (p.Gln67=)
NM_183050.4(BCKDHB):c.203C>T (p.Thr68Ile)
NM_183050.4(BCKDHB):c.211del (p.Lys70_Met71insTer)
NM_183050.4(BCKDHB):c.211dup (p.Met71fs)
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.250del (p.Ser84fs)
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.272C>T (p.Ala91Val)
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.275-1G>A
NM_183050.4(BCKDHB):c.275-20A>C
NM_183050.4(BCKDHB):c.275-20A>G
NM_183050.4(BCKDHB):c.275-2A>G rs1554184224
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.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.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.320del (p.Thr107fs)
NM_183050.4(BCKDHB):c.321T>C (p.Thr107=)
NM_183050.4(BCKDHB):c.322dup (p.Val108fs) rs2127727907
NM_183050.4(BCKDHB):c.329T>A (p.Leu110Ter)
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.344-8A>G
NM_183050.4(BCKDHB):c.348del (p.Asp117fs) rs1400121541
NM_183050.4(BCKDHB):c.349G>A (p.Asp117Asn)
NM_183050.4(BCKDHB):c.352A>T (p.Arg118Ter) rs1772645594
NM_183050.4(BCKDHB):c.352dup (p.Arg118fs)
NM_183050.4(BCKDHB):c.356T>G (p.Val119Gly) rs121965005
NM_183050.4(BCKDHB):c.360T>C (p.Phe120=) rs770355362
NM_183050.4(BCKDHB):c.364dup (p.Thr122fs) rs1554189447
NM_183050.4(BCKDHB):c.365C>A (p.Thr122Asn) rs398124575
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.36C>G (p.Leu12=) rs1464497822
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.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.408dup (p.Ala137fs)
NM_183050.4(BCKDHB):c.410C>A (p.Ala137Glu) rs776631396
NM_183050.4(BCKDHB):c.415_416del (p.Thr139fs)
NM_183050.4(BCKDHB):c.41_51dup (p.Gly18fs)
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.427G>A (p.Ala143Thr)
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+10T>C
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.478-19C>T
NM_183050.4(BCKDHB):c.478-4T>G
NM_183050.4(BCKDHB):c.478-6C>T rs879247086
NM_183050.4(BCKDHB):c.478A>T (p.Ile160Phe) rs1582275277
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.498G>C (p.Lys166Asn) rs1562104211
NM_183050.4(BCKDHB):c.501T>C (p.Tyr167=)
NM_183050.4(BCKDHB):c.501T>G (p.Tyr167Ter) rs1772736212
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.517G>T (p.Asp173Tyr) rs1554189815
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>G (p.Arg183Gly)
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.559_560del (p.Gly187fs)
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.56_57del (p.Ala19fs)
NM_183050.4(BCKDHB):c.575G>A (p.Gly192Glu)
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.580_583del (p.Leu194fs)
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.593A>T (p.Gln198Leu)
NM_183050.4(BCKDHB):c.595_596del (p.Ser199_Pro200insTer) rs398124587
NM_183050.4(BCKDHB):c.598C>G (p.Pro200Ala)
NM_183050.4(BCKDHB):c.599C>T (p.Pro200Leu) rs1554189861
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.612dup (p.Ala205fs)
NM_183050.4(BCKDHB):c.616C>T (p.His206Tyr) rs121965004
NM_183050.4(BCKDHB):c.617A>C (p.His206Pro) rs1562104694
NM_183050.4(BCKDHB):c.625G>T (p.Gly209Ter) rs1389512878
NM_183050.4(BCKDHB):c.633+14T>C
NM_183050.4(BCKDHB):c.633+15G>A
NM_183050.4(BCKDHB):c.633+1G>C rs398124589
NM_183050.4(BCKDHB):c.633+1G>T rs398124589
NM_183050.4(BCKDHB):c.633+2T>C
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
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.637G>T (p.Val213Phe) rs994415333
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.665A>G (p.Lys222Arg)
NM_183050.4(BCKDHB):c.667G>T (p.Gly223Ter) rs1248040495
NM_183050.4(BCKDHB):c.673C>G (p.Leu225Val)
NM_183050.4(BCKDHB):c.674T>C (p.Leu225Pro) rs398124590
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.691_693delinsAA (p.Asp231fs)
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.732C>A (p.Tyr244Ter) rs537988425
NM_183050.4(BCKDHB):c.741dup (p.Ala248fs)
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.743_840+22delinsGGAAGAAGTCCCTATAGAACGTAG
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.784del (p.Gln262fs)
NM_183050.4(BCKDHB):c.790G>A (p.Glu264Lys)
NM_183050.4(BCKDHB):c.790G>T (p.Glu264Ter) rs933828560
NM_183050.4(BCKDHB):c.792dup (p.Val265fs)
NM_183050.4(BCKDHB):c.794T>C (p.Val265Ala)
NM_183050.4(BCKDHB):c.796A>G (p.Ile266Val)
NM_183050.4(BCKDHB):c.803_806del (p.Glu268fs)
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.817A>T (p.Thr273Ser)
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.831G>A (p.Trp277Ter)
NM_183050.4(BCKDHB):c.831G>C (p.Trp277Cys)
NM_183050.4(BCKDHB):c.833G>A (p.Gly278Asp)
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+1G>T rs760538465
NM_183050.4(BCKDHB):c.840+20A>G
NM_183050.4(BCKDHB):c.840+2T>G rs398124596
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.845A>C (p.His282Pro)
NM_183050.4(BCKDHB):c.846T>C (p.His282=)
NM_183050.4(BCKDHB):c.84C>A (p.Gly28=)
NM_183050.4(BCKDHB):c.84C>G (p.Gly28=) rs776261412
NM_183050.4(BCKDHB):c.853del (p.Arg285fs) rs1057517124
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.931G>C (p.Asp311His) rs1246984003
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.949A>T (p.Lys317Ter)
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+27209A>G rs207467187
NM_183050.4(BCKDHB):c.951+48C>T rs3749896
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.952-16_952-15del rs890103324
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.964A>G (p.Thr322Ala) rs869312131
NM_183050.4(BCKDHB):c.964del (p.Thr322fs) rs1554205506
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.974T>G (p.Leu325Arg) rs398124604
NM_183050.4(BCKDHB):c.975G>T (p.Leu325=)
NM_183050.4(BCKDHB):c.975del (p.Leu325_Leu326insTer)
NM_183050.4(BCKDHB):c.976C>T (p.Leu326=) rs2127965109
NM_183050.4(BCKDHB):c.97del (p.Arg33fs) rs1057516731
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=)

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