NM_000709.4(BCKDHA):c.288C>T (p.His96=)
|
rs148571328
|
0.00043
|
NM_000709.4(BCKDHA):c.664G>A (p.Ala222Thr)
|
rs141086188
|
0.00036
|
NM_000709.4(BCKDHA):c.375+4C>T
|
rs377496852
|
0.00025
|
NM_000709.4(BCKDHA):c.1195C>T (p.Arg399Trp)
|
rs760281271
|
0.00014
|
NM_000709.4(BCKDHA):c.448A>G (p.Asn150Asp)
|
rs140612545
|
0.00011
|
NM_000709.4(BCKDHA):c.943C>T (p.Arg315Trp)
|
rs373336888
|
0.00009
|
NM_000709.4(BCKDHA):c.1167+4A>C
|
rs546655391
|
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_000709.4(BCKDHA):c.1093C>T (p.Arg365Trp)
|
rs1218567341
|
0.00005
|
NM_000709.4(BCKDHA):c.1277C>T (p.Ser426Phe)
|
rs557058340
|
0.00005
|
NM_001918.5(DBT):c.1111G>A (p.Ala371Thr)
|
rs777868718
|
0.00005
|
NM_001918.5(DBT):c.572T>G (p.Val191Gly)
|
rs146894954
|
0.00005
|
NM_000709.4(BCKDHA):c.1192G>A (p.Glu398Lys)
|
rs201168715
|
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.996-26A>G
|
rs757986569
|
0.00004
|
NM_183050.4(BCKDHB):c.434C>T (p.Ala145Val)
|
rs574122134
|
0.00004
|
NM_000709.4(BCKDHA):c.946C>T (p.Arg316Trp)
|
rs758442329
|
0.00003
|
NM_183050.4(BCKDHB):c.5C>T (p.Ala2Val)
|
rs769876670
|
0.00003
|
NM_000709.4(BCKDHA):c.1100A>C (p.Tyr367Ser)
|
rs777794357
|
0.00002
|
NM_000709.4(BCKDHA):c.508C>T (p.Pro170Ser)
|
rs34956071
|
0.00002
|
NM_000709.4(BCKDHA):c.947G>A (p.Arg316Gln)
|
rs972403437
|
0.00002
|
NM_001918.5(DBT):c.34A>G (p.Arg12Gly)
|
rs1215222732
|
0.00002
|
NM_183050.4(BCKDHB):c.239C>G (p.Ala80Gly)
|
rs371131253
|
0.00002
|
NM_183050.4(BCKDHB):c.449C>T (p.Ala150Val)
|
rs867033248
|
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.1055A>G (p.Asn352Ser)
|
rs766755823
|
0.00001
|
NM_000709.4(BCKDHA):c.1094G>A (p.Arg365Gln)
|
rs375957868
|
0.00001
|
NM_000709.4(BCKDHA):c.1160G>A (p.Arg387His)
|
rs1052314774
|
0.00001
|
NM_000709.4(BCKDHA):c.1262G>A (p.Arg421His)
|
rs535975575
|
0.00001
|
NM_000709.4(BCKDHA):c.277G>A (p.Glu93Lys)
|
rs753452195
|
0.00001
|
NM_000709.4(BCKDHA):c.359A>G (p.Tyr120Cys)
|
rs764284154
|
0.00001
|
NM_000709.4(BCKDHA):c.424G>A (p.Val142Met)
|
rs750226738
|
0.00001
|
NM_000709.4(BCKDHA):c.449A>G (p.Asn150Ser)
|
rs2039284627
|
0.00001
|
NM_000709.4(BCKDHA):c.47G>A (p.Gly16Asp)
|
rs766174938
|
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.59C>T (p.Ala20Val)
|
rs1159645644
|
0.00001
|
NM_000709.4(BCKDHA):c.656C>T (p.Ala219Val)
|
rs532361185
|
0.00001
|
NM_000709.4(BCKDHA):c.787T>C (p.Phe263Leu)
|
rs771360993
|
0.00001
|
NM_000709.4(BCKDHA):c.919T>C (p.Tyr307His)
|
rs138261404
|
0.00001
|
NM_000709.4(BCKDHA):c.944G>A (p.Arg315Gln)
|
rs201109190
|
0.00001
|
NM_001918.5(DBT):c.1171C>T (p.Leu391Phe)
|
rs1339599491
|
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.1385G>A (p.Arg462His)
|
rs750594890
|
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.673A>C (p.Ile225Leu)
|
rs1472099889
|
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.884A>G (p.Lys295Arg)
|
rs139216072
|
0.00001
|
NM_001918.5(DBT):c.902G>A (p.Arg301His)
|
rs770981889
|
0.00001
|
NM_183050.4(BCKDHB):c.1031C>T (p.Thr344Ile)
|
rs761138547
|
0.00001
|
NM_183050.4(BCKDHB):c.1057C>G (p.Leu353Val)
|
rs398124563
|
0.00001
|
NM_183050.4(BCKDHB):c.1132G>A (p.Asp378Asn)
|
rs970365846
|
0.00001
|
NM_183050.4(BCKDHB):c.115G>A (p.Ala39Thr)
|
rs914935376
|
0.00001
|
NM_183050.4(BCKDHB):c.245A>G (p.Asp82Gly)
|
rs150769284
|
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.365C>T (p.Thr122Ile)
|
rs398124575
|
0.00001
|
NM_183050.4(BCKDHB):c.479T>G (p.Ile160Ser)
|
rs398124576
|
0.00001
|
NM_183050.4(BCKDHB):c.587A>T (p.His196Leu)
|
rs398124585
|
0.00001
|
NM_183050.4(BCKDHB):c.854G>A (p.Arg285Gln)
|
rs761827220
|
0.00001
|
NM_183050.4(BCKDHB):c.866C>T (p.Ser289Phe)
|
rs762438504
|
0.00001
|
NM_183050.4(BCKDHB):c.895T>A (p.Cys299Ser)
|
rs370331553
|
0.00001
|
NC_000001.10:g.(?_100316599)_(101709564_?)dup
|
|
|
NC_000006.11:g.(?_80877375)_(80881127_?)dup
|
|
|
NC_000019.9:g.(?_39904727)_(42931301_?)dup
|
|
|
NM_000709.3(BCKDHA):c.111_122del12
|
rs751877248
|
|
NM_000709.4(BCKDHA):c.1011C>G (p.Ser337Arg)
|
rs1417360930
|
|
NM_000709.4(BCKDHA):c.1031C>T (p.Ala344Val)
|
|
|
NM_000709.4(BCKDHA):c.1073A>G (p.Asp358Gly)
|
|
|
NM_000709.4(BCKDHA):c.108+4A>G
|
|
|
NM_000709.4(BCKDHA):c.109-15T>A
|
|
|
NM_000709.4(BCKDHA):c.1180T>C (p.Phe394Leu)
|
|
|
NM_000709.4(BCKDHA):c.1189G>A (p.Ala397Thr)
|
|
|
NM_000709.4(BCKDHA):c.1196G>A (p.Arg399Gln)
|
|
|
NM_000709.4(BCKDHA):c.1218C>T (p.Asn406=)
|
|
|
NM_000709.4(BCKDHA):c.1285C>T (p.Arg429Cys)
|
|
|
NM_000709.4(BCKDHA):c.135T>G (p.Phe45Leu)
|
rs1430080785
|
|
NM_000709.4(BCKDHA):c.148G>C (p.Asp50His)
|
|
|
NM_000709.4(BCKDHA):c.173C>T (p.Ser58Leu)
|
|
|
NM_000709.4(BCKDHA):c.202A>G (p.Ile68Val)
|
|
|
NM_000709.4(BCKDHA):c.203T>A (p.Ile68Asn)
|
|
|
NM_000709.4(BCKDHA):c.208C>T (p.Pro70Ser)
|
|
|
NM_000709.4(BCKDHA):c.214G>A (p.Val72Ile)
|
|
|
NM_000709.4(BCKDHA):c.239G>A (p.Arg80His)
|
|
|
NM_000709.4(BCKDHA):c.241G>A (p.Val81Ile)
|
|
|
NM_000709.4(BCKDHA):c.246G>A (p.Met82Ile)
|
|
|
NM_000709.4(BCKDHA):c.251G>A (p.Arg84Gln)
|
|
|
NM_000709.4(BCKDHA):c.276C>T (p.Ser92=)
|
|
|
NM_000709.4(BCKDHA):c.282C>A (p.Asp94Glu)
|
|
|
NM_000709.4(BCKDHA):c.28G>T (p.Val10Phe)
|
rs1307495247
|
|
NM_000709.4(BCKDHA):c.303G>C (p.Lys101Asn)
|
|
|
NM_000709.4(BCKDHA):c.35G>A (p.Arg12Gln)
|
rs769659202
|
|
NM_000709.4(BCKDHA):c.371G>C (p.Arg124Pro)
|
rs752700457
|
|
NM_000709.4(BCKDHA):c.375+5G>A
|
|
|
NM_000709.4(BCKDHA):c.397A>G (p.Thr133Ala)
|
|
|
NM_000709.4(BCKDHA):c.43C>T (p.Arg15Cys)
|
rs371408960
|
|
NM_000709.4(BCKDHA):c.456C>A (p.Asp152Glu)
|
|
|
NM_000709.4(BCKDHA):c.485G>A (p.Gly162Asp)
|
|
|
NM_000709.4(BCKDHA):c.495G>A (p.Met165Ile)
|
rs754327984
|
|
NM_000709.4(BCKDHA):c.586G>A (p.Gly196Ser)
|
rs1191782907
|
|
NM_000709.4(BCKDHA):c.623C>T (p.Pro208Leu)
|
|
|
NM_000709.4(BCKDHA):c.648G>A (p.Ala216=)
|
|
|
NM_000709.4(BCKDHA):c.673C>T (p.Arg225Trp)
|
|
|
NM_000709.4(BCKDHA):c.677C>T (p.Ala226Val)
|
|
|
NM_000709.4(BCKDHA):c.694G>A (p.Val232Ile)
|
|
|
NM_000709.4(BCKDHA):c.709G>A (p.Gly237Ser)
|
|
|
NM_000709.4(BCKDHA):c.731G>T (p.Gly244Val)
|
|
|
NM_000709.4(BCKDHA):c.743C>T (p.Ala248Val)
|
rs887411374
|
|
NM_000709.4(BCKDHA):c.782TCT[2] (p.Phe263del)
|
rs398123505
|
|
NM_000709.4(BCKDHA):c.792C>G (p.Cys264Trp)
|
rs137852876
|
|
NM_000709.4(BCKDHA):c.800A>G (p.Asn267Ser)
|
|
|
NM_000709.4(BCKDHA):c.838C>T (p.Arg280Cys)
|
|
|
NM_000709.4(BCKDHA):c.842G>T (p.Gly281Val)
|
rs886054461
|
|
NM_000709.4(BCKDHA):c.925G>T (p.Ala309Ser)
|
|
|
NM_000709.4(BCKDHA):c.949G>T (p.Ala317Ser)
|
|
|
NM_000709.4(BCKDHA):c.968C>G (p.Pro323Arg)
|
rs779466371
|
|
NM_000709.4(BCKDHA):c.978C>G (p.Ile326Met)
|
|
|
NM_001918.5(DBT):c.1002G>T (p.Gln334His)
|
|
|
NM_001918.5(DBT):c.1061T>C (p.Leu354Ser)
|
rs1296308942
|
|
NM_001918.5(DBT):c.1170T>G (p.Asp390Glu)
|
rs1661798658
|
|
NM_001918.5(DBT):c.1210-3T>A
|
|
|
NM_001918.5(DBT):c.1212T>G (p.Ile404Met)
|
rs2100779467
|
|
NM_001918.5(DBT):c.1219A>G (p.Thr407Ala)
|
|
|
NM_001918.5(DBT):c.1230A>C (p.Lys410Asn)
|
|
|
NM_001918.5(DBT):c.1251A>G (p.Glu417=)
|
|
|
NM_001918.5(DBT):c.1264G>A (p.Ala422Thr)
|
|
|
NM_001918.5(DBT):c.1276A>G (p.Ile426Val)
|
rs1471693880
|
|
NM_001918.5(DBT):c.1283C>T (p.Ala428Val)
|
rs2100761237
|
|
NM_001918.5(DBT):c.1372G>T (p.Ala458Ser)
|
|
|
NM_001918.5(DBT):c.1375A>G (p.Thr459Ala)
|
|
|
NM_001918.5(DBT):c.1394A>G (p.Asn465Ser)
|
|
|
NM_001918.5(DBT):c.1420C>A (p.Pro474Thr)
|
|
|
NM_001918.5(DBT):c.14G>A (p.Arg5His)
|
|
|
NM_001918.5(DBT):c.165AAC[1] (p.Thr57del)
|
rs771945254
|
|
NM_001918.5(DBT):c.16A>G (p.Met6Val)
|
|
|
NM_001918.5(DBT):c.181C>T (p.Arg61Cys)
|
|
|
NM_001918.5(DBT):c.182G>A (p.Arg61His)
|
|
|
NM_001918.5(DBT):c.215T>C (p.Ile72Thr)
|
rs565879664
|
|
NM_001918.5(DBT):c.230G>A (p.Arg77Lys)
|
|
|
NM_001918.5(DBT):c.292A>G (p.Ile98Val)
|
|
|
NM_001918.5(DBT):c.296G>A (p.Cys99Tyr)
|
rs1557956678
|
|
NM_001918.5(DBT):c.36G>C (p.Arg12Ser)
|
|
|
NM_001918.5(DBT):c.398A>T (p.Lys133Met)
|
|
|
NM_001918.5(DBT):c.433+6G>A
|
|
|
NM_001918.5(DBT):c.433+8A>G
|
|
|
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.45G>T (p.Gly15=)
|
|
|
NM_001918.5(DBT):c.475G>A (p.Asp159Asn)
|
|
|
NM_001918.5(DBT):c.479A>C (p.Glu160Ala)
|
|
|
NM_001918.5(DBT):c.4G>A (p.Ala2Thr)
|
rs760664814
|
|
NM_001918.5(DBT):c.512C>T (p.Thr171Ile)
|
|
|
NM_001918.5(DBT):c.533G>A (p.Arg178His)
|
|
|
NM_001918.5(DBT):c.538C>G (p.Leu180Val)
|
rs2100804291
|
|
NM_001918.5(DBT):c.577G>A (p.Gly193Ser)
|
rs398123671
|
|
NM_001918.5(DBT):c.595A>G (p.Arg199Gly)
|
rs2100799976
|
|
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.709G>C (p.Val237Leu)
|
rs947272551
|
|
NM_001918.5(DBT):c.715A>C (p.Ile239Leu)
|
|
|
NM_001918.5(DBT):c.787A>G (p.Met263Val)
|
rs753685282
|
|
NM_001918.5(DBT):c.82_84dup (p.Asn28dup)
|
rs746916491
|
|
NM_001918.5(DBT):c.853A>C (p.Thr285Pro)
|
rs1662391542
|
|
NM_001918.5(DBT):c.86T>C (p.Val29Ala)
|
rs1473273369
|
|
NM_001918.5(DBT):c.883A>C (p.Lys295Gln)
|
rs1158505606
|
|
NM_001918.5(DBT):c.899C>T (p.Ala300Val)
|
|
|
NM_001918.5(DBT):c.913C>T (p.Leu305Phe)
|
|
|
NM_001918.5(DBT):c.932T>C (p.Phe311Ser)
|
rs1662388035
|
|
NM_001918.5(DBT):c.940G>T (p.Ala314Ser)
|
|
|
NM_001918.5(DBT):c.962A>T (p.Gln321Leu)
|
rs758048048
|
|
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.991G>A (p.Glu331Lys)
|
rs2100788336
|
|
NM_001918.5(DBT):c.995A>G (p.Asn332Ser)
|
|
|
NM_183050.4(BCKDHB):c.100G>A (p.Gly34Ser)
|
|
|
NM_183050.4(BCKDHB):c.1038+5A>T
|
|
|
NM_183050.4(BCKDHB):c.1039-10C>G
|
rs760262704
|
|
NM_183050.4(BCKDHB):c.1039-10_1039-9del
|
|
|
NM_183050.4(BCKDHB):c.1039-9dup
|
rs2128020517
|
|
NM_183050.4(BCKDHB):c.1042G>A (p.Glu348Lys)
|
rs989873156
|
|
NM_183050.4(BCKDHB):c.1070T>C (p.Ile357Thr)
|
rs2128020569
|
|
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.1115A>T (p.Glu372Val)
|
rs1554216344
|
|
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.1162A>G (p.Lys388Glu)
|
|
|
NM_183050.4(BCKDHB):c.1175A>G (p.Tyr392Cys)
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NM_183050.4(BCKDHB):c.131A>G (p.Asp44Gly)
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rs2127699100
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NM_183050.4(BCKDHB):c.171G>C (p.Gln57His)
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rs773031829
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NM_183050.4(BCKDHB):c.173C>G (p.Pro58Arg)
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NM_183050.4(BCKDHB):c.196+5G>A
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rs398124568
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NM_183050.4(BCKDHB):c.19G>A (p.Ala7Thr)
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NM_183050.4(BCKDHB):c.200A>G (p.Gln67Arg)
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rs2127726102
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NM_183050.4(BCKDHB):c.203C>T (p.Thr68Ile)
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NM_183050.4(BCKDHB):c.238G>A (p.Ala80Thr)
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NM_183050.4(BCKDHB):c.23C>G (p.Ala8Gly)
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NM_183050.4(BCKDHB):c.274+5C>T
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rs1770414545
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NM_183050.4(BCKDHB):c.301G>A (p.Gly101Ser)
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rs1770499193
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NM_183050.4(BCKDHB):c.320C>G (p.Thr107Ser)
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NM_183050.4(BCKDHB):c.338A>G (p.Lys113Arg)
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rs770263755
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NM_183050.4(BCKDHB):c.343+2dup
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NM_183050.4(BCKDHB):c.349G>A (p.Asp117Asn)
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NM_183050.4(BCKDHB):c.367C>T (p.Pro123Ser)
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NM_183050.4(BCKDHB):c.37A>G (p.Arg13Gly)
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NM_183050.4(BCKDHB):c.389T>C (p.Val130Ala)
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NM_183050.4(BCKDHB):c.398G>A (p.Gly133Glu)
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rs1772648897
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NM_183050.4(BCKDHB):c.444G>C (p.Gln148His)
|
rs2127773506
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NM_183050.4(BCKDHB):c.454T>G (p.Tyr152Asp)
|
rs2127773518
|
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NM_183050.4(BCKDHB):c.464_465delinsGG (p.Pro155Arg)
|
rs2127773530
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NM_183050.4(BCKDHB):c.47C>A (p.Ala16Glu)
|
rs537680296
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NM_183050.4(BCKDHB):c.497A>T (p.Lys166Met)
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NM_183050.4(BCKDHB):c.509G>C (p.Arg170Pro)
|
rs371518124
|
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NM_183050.4(BCKDHB):c.569G>C (p.Gly190Ala)
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NM_183050.4(BCKDHB):c.56C>T (p.Ala19Val)
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NM_183050.4(BCKDHB):c.604G>A (p.Ala202Thr)
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NM_183050.4(BCKDHB):c.617A>C (p.His206Pro)
|
rs1562104694
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NM_183050.4(BCKDHB):c.673C>G (p.Leu225Val)
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NM_183050.4(BCKDHB):c.686T>C (p.Ile229Thr)
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NM_183050.4(BCKDHB):c.726A>G (p.Ile242Met)
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NM_183050.4(BCKDHB):c.757A>C (p.Ile253Leu)
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NM_183050.4(BCKDHB):c.772A>T (p.Ile258Phe)
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NM_183050.4(BCKDHB):c.77T>C (p.Leu26Pro)
|
rs1769081318
|
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NM_183050.4(BCKDHB):c.790G>A (p.Glu264Lys)
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NM_183050.4(BCKDHB):c.794T>C (p.Val265Ala)
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NM_183050.4(BCKDHB):c.796A>G (p.Ile266Val)
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NM_183050.4(BCKDHB):c.812A>C (p.Asp271Ala)
|
rs2127823416
|
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NM_183050.4(BCKDHB):c.821T>C (p.Leu274Pro)
|
rs1582342243
|
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NM_183050.4(BCKDHB):c.827C>G (p.Ala276Gly)
|
rs1774369297
|
|
NM_183050.4(BCKDHB):c.835A>G (p.Thr279Ala)
|
rs775427993
|
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NM_183050.4(BCKDHB):c.862G>C (p.Ala288Pro)
|
rs1210713694
|
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NM_183050.4(BCKDHB):c.8_19dup (p.Val3_Ala6dup)
|
rs1554180793
|
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NM_183050.4(BCKDHB):c.943A>G (p.Ile315Val)
|
|
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NM_183050.4(BCKDHB):c.951+4T>C
|
rs778135997
|
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NM_183050.4(BCKDHB):c.953C>T (p.Ser318Phe)
|
rs1562193767
|
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NM_183050.4(BCKDHB):c.968G>C (p.Gly323Ala)
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NM_183050.4(BCKDHB):c.971G>A (p.Arg324Gln)
|
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NM_183050.4(BCKDHB):c.989A>G (p.Glu330Gly)
|
rs769446376
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NM_183050.4(BCKDHB):c.98G>A (p.Arg33Gln)
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