ClinVar Miner

List of variants studied for Maple syrup urine disease by Invitae

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ClinVar version:
Total variants: 1597
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HGVS dbSNP gnomAD frequency
NM_001918.5(DBT):c.1150A>G (p.Ser384Gly) rs12021720 0.87100
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.376-10A>C rs3213861 0.59120
NM_183050.4(BCKDHB):c.197-11G>T rs9448894 0.42545
NM_001918.5(DBT):c.1210-9A>T rs34229137 0.31080
NM_001918.5(DBT):c.1150= (p.Ser384=) rs12021720 0.12900
NM_000709.4(BCKDHA):c.116C>A (p.Pro39His) rs11549936 0.07892
NM_001918.5(DBT):c.1210-10T>A rs183058253 0.04736
NM_001918.5(DBT):c.715A>G (p.Ile239Val) rs72973763 0.03442
NM_000709.4(BCKDHA):c.1260C>T (p.Leu420=) rs34492894 0.02893
NM_000709.4(BCKDHA):c.996-6G>A rs74586298 0.02713
NM_000709.4(BCKDHA):c.639C>T (p.Ile213=) rs10404506 0.01970
NM_001918.5(DBT):c.1281+6T>G rs140115881 0.01022
NM_000709.4(BCKDHA):c.34C>A (p.Arg12=) rs34541442 0.00893
NM_001918.5(DBT):c.724T>C (p.Ser242Pro) rs146249007 0.00864
NM_000709.4(BCKDHA):c.452C>T (p.Thr151Met) rs34442879 0.00790
NM_000709.4(BCKDHA):c.995+9C>T rs13343330 0.00750
NM_001918.5(DBT):c.1282-13_1282-9del rs761681999 0.00456
NM_183050.4(BCKDHB):c.122C>T (p.Thr41Ile) rs35470366 0.00394
NM_000709.4(BCKDHA):c.975C>T (p.Leu325=) rs55940366 0.00365
NM_001918.5(DBT):c.506G>A (p.Arg169Gln) rs34267966 0.00341
NM_001918.5(DBT):c.76T>C (p.Cys26Arg) rs145674833 0.00302
NM_000709.4(BCKDHA):c.484+5G>A rs149899007 0.00298
NM_000709.4(BCKDHA):c.996-18C>T rs201511678 0.00271
NM_183050.4(BCKDHB):c.742+16A>G rs140373763 0.00220
NM_001918.5(DBT):c.1418A>G (p.Asn473Ser) rs75525811 0.00196
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_001918.5(DBT):c.753C>T (p.Asp251=) rs79292123 0.00179
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_183050.4(BCKDHB):c.633+16T>C rs373772596 0.00089
NM_183050.4(BCKDHB):c.633G>C (p.Lys211Asn) rs143427811 0.00086
NM_000709.4(BCKDHA):c.376-4C>T rs199725420 0.00084
NM_001918.5(DBT):c.327C>T (p.Thr109=) rs138796800 0.00078
NM_183050.4(BCKDHB):c.86C>T (p.Ala29Val) rs9448884 0.00068
NM_000709.4(BCKDHA):c.1191C>T (p.Ala397=) rs374403946 0.00062
NM_183050.4(BCKDHB):c.832G>A (p.Gly278Ser) rs386834233 0.00061
NM_000709.4(BCKDHA):c.289-5C>T rs200646708 0.00053
NM_000709.4(BCKDHA):c.1081A>G (p.Ile361Val) rs61736656 0.00052
NM_001918.5(DBT):c.1210-11T>A rs751951997 0.00049
NM_000709.4(BCKDHA):c.288C>T (p.His96=) rs148571328 0.00043
NM_183050.4(BCKDHB):c.411G>A (p.Ala137=) rs142858149 0.00039
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.664G>A (p.Ala222Thr) rs141086188 0.00036
NM_000709.4(BCKDHA):c.294G>A (p.Pro98=) rs142967869 0.00029
NM_000709.4(BCKDHA):c.117C>A (p.Pro39=) rs80014754 0.00028
NM_183050.4(BCKDHB):c.744G>A (p.Ala248=) rs147719822 0.00026
NM_000709.4(BCKDHA):c.375+4C>T rs377496852 0.00025
NM_001918.5(DBT):c.901C>T (p.Arg301Cys) rs185492864 0.00025
NM_000709.4(BCKDHA):c.744C>T (p.Ala248=) rs137960127 0.00024
NM_001918.5(DBT):c.37A>G (p.Asn13Asp) rs140308307 0.00024
NM_001918.5(DBT):c.1210-8A>T rs535837017 0.00023
NM_001918.5(DBT):c.670G>T (p.Glu224Ter) rs74103423 0.00022
NM_001918.5(DBT):c.964T>C (p.Phe322Leu) rs148571335 0.00022
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_001918.5(DBT):c.1210-9_1210-8insT rs201755806 0.00020
NM_000709.4(BCKDHA):c.843C>T (p.Gly281=) rs371343548 0.00019
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_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_183050.4(BCKDHB):c.1143G>A (p.Lys381=) rs143579400 0.00016
NM_000709.4(BCKDHA):c.924C>T (p.Asn308=) rs139390622 0.00015
NM_183050.4(BCKDHB):c.853C>T (p.Arg285Ter) rs398124598 0.00015
NM_000709.4(BCKDHA):c.1195C>T (p.Arg399Trp) rs760281271 0.00014
NM_000709.4(BCKDHA):c.995+19G>A rs373076000 0.00014
NM_000709.4(BCKDHA):c.1312T>A (p.Tyr438Asn) rs137852870 0.00013
NM_000709.4(BCKDHA):c.663C>T (p.Tyr221=) rs151227241 0.00013
NM_001918.5(DBT):c.747C>A (p.Gly249=) rs200612682 0.00013
NM_183050.4(BCKDHB):c.168C>T (p.Phe56=) rs747705382 0.00013
NM_000709.4(BCKDHA):c.1041G>A (p.Ser347=) rs144276456 0.00011
NM_000709.4(BCKDHA):c.448A>G (p.Asn150Asp) rs140612545 0.00011
NM_001918.5(DBT):c.318T>G (p.Ala106=) rs146259768 0.00011
NM_001918.5(DBT):c.827T>G (p.Phe276Cys) rs121964999 0.00011
NM_000709.4(BCKDHA):c.159G>C (p.Gln53His) rs775471043 0.00010
NM_183050.4(BCKDHB):c.548G>C (p.Arg183Pro) rs79761867 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.853G>C (p.Ala285Pro) rs398123508 0.00009
NM_000709.4(BCKDHA):c.943C>T (p.Arg315Trp) rs373336888 0.00009
NM_001918.5(DBT):c.556-7T>C rs755448648 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_183050.4(BCKDHB):c.840+10A>G rs561940940 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.1167+4A>C rs546655391 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_001918.5(DBT):c.1127G>A (p.Arg376His) rs150934375 0.00006
NM_001918.5(DBT):c.1281+5A>G rs199571242 0.00006
NM_001918.5(DBT):c.733C>A (p.Pro245Thr) rs200339376 0.00006
NM_001918.5(DBT):c.90T>C (p.His30=) rs377306925 0.00006
NM_001918.5(DBT):c.9A>G (p.Ala3=) rs772869478 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_000709.4(BCKDHA):c.1020C>T (p.Asp340=) rs548045051 0.00005
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_000709.4(BCKDHA):c.174G>A (p.Ser58=) rs576803251 0.00005
NM_001918.5(DBT):c.1111G>A (p.Ala371Thr) rs777868718 0.00005
NM_001918.5(DBT):c.291C>T (p.Ser97=) rs201318480 0.00005
NM_001918.5(DBT):c.572T>G (p.Val191Gly) rs146894954 0.00005
NM_183050.4(BCKDHB):c.197-16T>C rs759961267 0.00005
NM_000709.4(BCKDHA):c.1080C>T (p.Pro360=) rs373390136 0.00004
NM_000709.4(BCKDHA):c.1192G>A (p.Glu398Lys) rs201168715 0.00004
NM_000709.4(BCKDHA):c.349C>T (p.Arg117Cys) rs188135164 0.00004
NM_000709.4(BCKDHA):c.351C>T (p.Arg117=) rs573976272 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.921C>T (p.Tyr307=) rs758972542 0.00004
NM_000709.4(BCKDHA):c.996-26A>G rs757986569 0.00004
NM_001918.5(DBT):c.1018-550A>G rs796052135 0.00004
NM_001918.5(DBT):c.1051G>C (p.Glu351Gln) rs142160613 0.00004
NM_001918.5(DBT):c.1143C>G (p.Gly381=) rs1052326198 0.00004
NM_001918.5(DBT):c.1210-10_1210-9del rs794726986 0.00004
NM_001918.5(DBT):c.27C>G (p.Thr9=) rs371418997 0.00004
NM_001918.5(DBT):c.536G>A (p.Arg179His) rs766629953 0.00004
NM_001918.5(DBT):c.562C>T (p.Leu188=) rs370323452 0.00004
NM_001918.5(DBT):c.75_76del (p.Cys26fs) rs768832921 0.00004
NM_001918.5(DBT):c.773-17A>C rs144978854 0.00004
NM_001918.5(DBT):c.978C>T (p.Asn326=) rs140659494 0.00004
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.840+15T>C rs764829376 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.137C>A (p.Ser46Ter) rs376456598 0.00003
NM_000709.4(BCKDHA):c.288+9C>T rs398123497 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.370C>T (p.Arg124Trp) rs398123499 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.890G>A (p.Arg297His) rs200137189 0.00003
NM_000709.4(BCKDHA):c.891C>T (p.Arg297=) rs187669174 0.00003
NM_000709.4(BCKDHA):c.946C>T (p.Arg316Trp) rs758442329 0.00003
NM_000709.4(BCKDHA):c.999C>T (p.Ile333=) rs374450070 0.00003
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_000709.4(BCKDHA):c.1087C>T (p.Arg363Trp) rs942815730 0.00002
NM_000709.4(BCKDHA):c.1100A>C (p.Tyr367Ser) rs777794357 0.00002
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.288+1G>A rs398123496 0.00002
NM_000709.4(BCKDHA):c.339C>T (p.Asn113=) rs747299996 0.00002
NM_000709.4(BCKDHA):c.508C>T (p.Pro170Ser) rs34956071 0.00002
NM_000709.4(BCKDHA):c.528C>A (p.Ala176=) rs755611354 0.00002
NM_000709.4(BCKDHA):c.565C>T (p.Arg189Cys) rs886042356 0.00002
NM_000709.4(BCKDHA):c.585C>T (p.Tyr195=) rs575806482 0.00002
NM_000709.4(BCKDHA):c.659C>T (p.Ala220Val) rs375785084 0.00002
NM_000709.4(BCKDHA):c.798C>T (p.Asn266=) rs772457864 0.00002
NM_000709.4(BCKDHA):c.889C>T (p.Arg297Cys) rs145901144 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.947G>A (p.Arg316Gln) rs972403437 0.00002
NM_000709.4(BCKDHA):c.996-10C>T rs748005370 0.00002
NM_001918.5(DBT):c.1017+9T>C rs773457541 0.00002
NM_001918.5(DBT):c.1210-11_1210-9del rs1557944011 0.00002
NM_001918.5(DBT):c.1269T>C (p.Leu423=) rs760929997 0.00002
NM_001918.5(DBT):c.15T>C (p.Arg5=) rs773817425 0.00002
NM_001918.5(DBT):c.175+9G>A rs779334816 0.00002
NM_001918.5(DBT):c.176-10del rs745672858 0.00002
NM_001918.5(DBT):c.176-15C>A rs762049483 0.00002
NM_001918.5(DBT):c.1A>G (p.Met1Val) rs759312184 0.00002
NM_001918.5(DBT):c.34A>G (p.Arg12Gly) rs1215222732 0.00002
NM_001918.5(DBT):c.401C>T (p.Pro134Leu) rs1131691488 0.00002
NM_001918.5(DBT):c.434-5A>C rs374530437 0.00002
NM_001918.5(DBT):c.62G>A (p.Arg21His) rs533707792 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.36C>T (p.Leu12=) rs1464497822 0.00002
NM_183050.4(BCKDHB):c.449C>T (p.Ala150Val) rs867033248 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.92T>C (p.Leu31Pro) rs763434607 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.1038C>T (p.Arg346=) rs1469254740 0.00001
NM_000709.4(BCKDHA):c.1053C>T (p.Val351=) rs1480623363 0.00001
NM_000709.4(BCKDHA):c.1055A>G (p.Asn352Ser) rs766755823 0.00001
NM_000709.4(BCKDHA):c.1061G>A (p.Trp354Ter) rs1214763792 0.00001
NM_000709.4(BCKDHA):c.1094G>A (p.Arg365Gln) rs375957868 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.1160G>A (p.Arg387His) rs1052314774 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.1234G>A (p.Val412Met) rs398123490 0.00001
NM_000709.4(BCKDHA):c.1257G>A (p.Gln419=) rs1234860232 0.00001
NM_000709.4(BCKDHA):c.1262G>A (p.Arg421His) rs535975575 0.00001
NM_000709.4(BCKDHA):c.127C>T (p.Gln43Ter) rs374625613 0.00001
NM_000709.4(BCKDHA):c.129G>A (p.Gln43=) rs1355693373 0.00001
NM_000709.4(BCKDHA):c.130C>T (p.Gln44Ter) rs1220443382 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.277G>A (p.Glu93Lys) rs753452195 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.359A>G (p.Tyr120Cys) rs764284154 0.00001
NM_000709.4(BCKDHA):c.371G>A (p.Arg124Gln) rs752700457 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.424G>A (p.Val142Met) rs750226738 0.00001
NM_000709.4(BCKDHA):c.435C>T (p.Ala145=) rs369278165 0.00001
NM_000709.4(BCKDHA):c.449A>G (p.Asn150Ser) rs2039284627 0.00001
NM_000709.4(BCKDHA):c.475C>T (p.Arg159Trp) rs769688327 0.00001
NM_000709.4(BCKDHA):c.47G>A (p.Gly16Asp) rs766174938 0.00001
NM_000709.4(BCKDHA):c.492G>C (p.Leu164=) rs764618560 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.504C>T (p.Asp168=) rs750857655 0.00001
NM_000709.4(BCKDHA):c.510C>G (p.Pro170=) rs1163026059 0.00001
NM_000709.4(BCKDHA):c.59C>T (p.Ala20Val) rs1159645644 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.632C>T (p.Thr211Met) rs398123503 0.00001
NM_000709.4(BCKDHA):c.646+12T>C rs777143993 0.00001
NM_000709.4(BCKDHA):c.647-1G>C rs753216964 0.00001
NM_000709.4(BCKDHA):c.647-8C>T rs763820194 0.00001
NM_000709.4(BCKDHA):c.647C>T (p.Ala216Val) rs369448982 0.00001
NM_000709.4(BCKDHA):c.656C>T (p.Ala219Val) rs532361185 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.745G>A (p.Gly249Ser) rs137852874 0.00001
NM_000709.4(BCKDHA):c.756C>T (p.Phe252=) rs756393197 0.00001
NM_000709.4(BCKDHA):c.757G>A (p.Ala253Thr) rs199599175 0.00001
NM_000709.4(BCKDHA):c.758C>G (p.Ala253Gly) rs1213596075 0.00001
NM_000709.4(BCKDHA):c.787T>C (p.Phe263Leu) rs771360993 0.00001
NM_000709.4(BCKDHA):c.793C>T (p.Arg265Trp) rs137852873 0.00001
NM_000709.4(BCKDHA):c.808G>A (p.Ala270Thr) rs765045050 0.00001
NM_000709.4(BCKDHA):c.854-2A>G rs760494152 0.00001
NM_000709.4(BCKDHA):c.860G>A (p.Arg287Gln) rs757457825 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.919T>C (p.Tyr307His) rs138261404 0.00001
NM_000709.4(BCKDHA):c.940C>T (p.Arg314Ter) rs753698250 0.00001
NM_000709.4(BCKDHA):c.944G>A (p.Arg315Gln) rs201109190 0.00001
NM_000709.4(BCKDHA):c.979G>A (p.Glu327Lys) rs398123515 0.00001
NM_000709.4(BCKDHA):c.995+10G>A rs778460909 0.00001
NM_001918.5(DBT):c.1017+8A>G rs541924732 0.00001
NM_001918.5(DBT):c.1017G>A (p.Lys339=) rs1490661508 0.00001
NM_001918.5(DBT):c.1018-10T>A rs1328647470 0.00001
NM_001918.5(DBT):c.1110C>T (p.Ile370=) rs771962372 0.00001
NM_001918.5(DBT):c.1138T>C (p.Leu380=) rs756606257 0.00001
NM_001918.5(DBT):c.1158C>T (p.Leu386=) rs139943180 0.00001
NM_001918.5(DBT):c.1171C>T (p.Leu391Phe) rs1339599491 0.00001
NM_001918.5(DBT):c.1173T>G (p.Leu391=) rs763246178 0.00001
NM_001918.5(DBT):c.1202T>C (p.Ile401Thr) rs1449113689 0.00001
NM_001918.5(DBT):c.1210-18_1210-9del rs780660910 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.1291C>T (p.Arg431Ter) rs398123660 0.00001
NM_001918.5(DBT):c.1320G>A (p.Lys440=) rs1243840387 0.00001
NM_001918.5(DBT):c.1350T>G (p.Ala450=) rs149959750 0.00001
NM_001918.5(DBT):c.1371T>C (p.Gly457=) rs1188716932 0.00001
NM_001918.5(DBT):c.1384C>T (p.Arg462Cys) rs765257706 0.00001
NM_001918.5(DBT):c.1385G>A (p.Arg462His) rs750594890 0.00001
NM_001918.5(DBT):c.1392C>T (p.Ser464=) rs765967170 0.00001
NM_001918.5(DBT):c.1430T>G (p.Met477Arg) rs398123662 0.00001
NM_001918.5(DBT):c.176-4G>A rs769021966 0.00001
NM_001918.5(DBT):c.198G>A (p.Gln66=) rs201714436 0.00001
NM_001918.5(DBT):c.206T>C (p.Leu69Pro) rs1663813561 0.00001
NM_001918.5(DBT):c.231A>G (p.Arg77=) rs1028461413 0.00001
NM_001918.5(DBT):c.270T>C (p.Asp90=) rs913574975 0.00001
NM_001918.5(DBT):c.365A>G (p.Tyr122Cys) rs727503896 0.00001
NM_001918.5(DBT):c.378C>T (p.Asp126=) rs1410915223 0.00001
NM_001918.5(DBT):c.387C>T (p.Ala129=) rs200503541 0.00001
NM_001918.5(DBT):c.420G>A (p.Thr140=) rs771792232 0.00001
NM_001918.5(DBT):c.42G>A (p.Ala14=) rs758610837 0.00001
NM_001918.5(DBT):c.434-15_434-4del rs727503895 0.00001
NM_001918.5(DBT):c.495G>A (p.Glu165=) rs1481747202 0.00001
NM_001918.5(DBT):c.52-1G>A rs755914063 0.00001
NM_001918.5(DBT):c.52-5del rs1234151678 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.624T>C (p.Tyr208=) rs752504160 0.00001
NM_001918.5(DBT):c.673A>C (p.Ile225Leu) rs1472099889 0.00001
NM_001918.5(DBT):c.765C>T (p.Pro255=) rs767126022 0.00001
NM_001918.5(DBT):c.772+7A>T rs904010521 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.837T>C (p.Cys279=) rs1662392437 0.00001
NM_001918.5(DBT):c.871C>T (p.Arg291Ter) rs398123675 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_001918.5(DBT):c.939+9C>T rs779947502 0.00001
NM_001918.5(DBT):c.939G>C (p.Lys313Asn) rs398123676 0.00001
NM_183050.4(BCKDHB):c.1023del (p.Ser342fs) rs776270090 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.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.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.522T>C (p.Leu174=) rs1191860809 0.00001
NM_183050.4(BCKDHB):c.526A>T (p.Asn176Tyr) rs398124582 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
NC_000001.10:g.(?_100316599)_(101709564_?)dup
NC_000001.10:g.(?_100671776)_(100672202_?)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.(?_100218757)_(100221872_?)del
NC_000001.11:g.(?_100240751)_(100240894_?)del
NC_000001.11:g.100196336_100215732del
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.(?_80877375)_(80881127_?)dup
NC_000006.11:g.(?_80877385)_(80878757_?)del
NC_000006.11:g.(?_80880989)_(81055997_?)del
NC_000006.11:g.(?_80910641)_(80982948_?)dup
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_000006.12:g.(?_80273125)_(80273231_?)del
NC_000019.10:g.(?_41397818)_(41414167_?)del
NC_000019.10:g.(?_41424428)_(41424831_?)del
NC_000019.9:g.(?_39904727)_(42931301_?)dup
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)_(41925211_?)del
NC_000019.9:g.(?_41925030)_(41930736_?)del
NM_000709.3(BCKDHA):c.111_122del12 rs751877248
NM_000709.4(BCKDHA):c.1008_1015del (p.His336fs) rs1330793674
NM_000709.4(BCKDHA):c.1011C>G (p.Ser337Arg) rs1417360930
NM_000709.4(BCKDHA):c.1028C>G (p.Ser343Ter) rs774735002
NM_000709.4(BCKDHA):c.1031C>T (p.Ala344Val)
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.1073A>G (p.Asp358Gly)
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+4A>G
NM_000709.4(BCKDHA):c.108+5G>C rs1568499702
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.109-15T>A
NM_000709.4(BCKDHA):c.109-16C>T rs2123253546
NM_000709.4(BCKDHA):c.109-19C>T
NM_000709.4(BCKDHA):c.109-1G>A rs2123253583
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.1110_1119del (p.Gln371fs) rs1599962569
NM_000709.4(BCKDHA):c.1113A>G (p.Gln371=) rs2039388745
NM_000709.4(BCKDHA):c.1119G>A (p.Trp373Ter) rs765543886
NM_000709.4(BCKDHA):c.111C>T (p.His37=)
NM_000709.4(BCKDHA):c.1121G>A (p.Trp374Ter)
NM_000709.4(BCKDHA):c.1137del (p.Lys380fs)
NM_000709.4(BCKDHA):c.114C>G (p.Pro38=) rs11549935
NM_000709.4(BCKDHA):c.114C>T (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+13del rs2122146856
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+1G>C rs2039389302
NM_000709.4(BCKDHA):c.1167+1del rs1555767169
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.1168-2A>G rs1555767285
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.116_117dup (p.Arg40fs) rs398123489
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.117del (p.Arg40fs) rs398123489
NM_000709.4(BCKDHA):c.117dup (p.Arg40fs) rs398123489
NM_000709.4(BCKDHA):c.1180T>C (p.Phe394Leu)
NM_000709.4(BCKDHA):c.1182T>C (p.Phe394=)
NM_000709.4(BCKDHA):c.1189G>A (p.Ala397Thr)
NM_000709.4(BCKDHA):c.1194G>A (p.Glu398=)
NM_000709.4(BCKDHA):c.1196G>A (p.Arg399Gln)
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.1218C>T (p.Asn406=)
NM_000709.4(BCKDHA):c.1226T>G (p.Phe409Cys) rs137852872
NM_000709.4(BCKDHA):c.1227C>G (p.Phe409Leu) rs2098470870
NM_000709.4(BCKDHA):c.1236G>C (p.Val412=) rs2122150817
NM_000709.4(BCKDHA):c.1237dup (p.Tyr413fs)
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.1280_1282del (p.Leu427_Ala428delinsPro) rs755691417
NM_000709.4(BCKDHA):c.1281G>C (p.Leu427=)
NM_000709.4(BCKDHA):c.1285C>T (p.Arg429Cys)
NM_000709.4(BCKDHA):c.12G>A (p.Ala4=)
NM_000709.4(BCKDHA):c.12G>C (p.Ala4=) rs2123232527
NM_000709.4(BCKDHA):c.12_13insGACGGGCGAGGTGGCTCACGCCTGAAATCCCAGCACTATGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGANNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAGATGGCGGTAGCG (p.Ile5fs)
NM_000709.4(BCKDHA):c.1306G>T (p.Glu436Ter) rs1298823471
NM_000709.4(BCKDHA):c.1308G>A (p.Glu436=) rs755138169
NM_000709.4(BCKDHA):c.1310_1311del (p.His437fs) rs398123492
NM_000709.4(BCKDHA):c.1311C>T (p.His437=)
NM_000709.4(BCKDHA):c.1313_1319del (p.Tyr438fs) rs2039407382
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.135T>G (p.Phe45Leu) rs1430080785
NM_000709.4(BCKDHA):c.138A>T (p.Ser46=) rs1342568998
NM_000709.4(BCKDHA):c.143del (p.Leu48fs) rs1555765593
NM_000709.4(BCKDHA):c.148G>C (p.Asp50His)
NM_000709.4(BCKDHA):c.14del (p.Ile5fs) rs398123494
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.173C>T (p.Ser58Leu)
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.202A>G (p.Ile68Val)
NM_000709.4(BCKDHA):c.203T>A (p.Ile68Asn)
NM_000709.4(BCKDHA):c.204C>A (p.Ile68=) rs2123253880
NM_000709.4(BCKDHA):c.208C>T (p.Pro70Ser)
NM_000709.4(BCKDHA):c.210C>T (p.Pro70=)
NM_000709.4(BCKDHA):c.214G>A (p.Val72Ile)
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.239G>A (p.Arg80His)
NM_000709.4(BCKDHA):c.241G>A (p.Val81Ile)
NM_000709.4(BCKDHA):c.243C>A (p.Val81=) rs2123253975
NM_000709.4(BCKDHA):c.246G>A (p.Met82Ile)
NM_000709.4(BCKDHA):c.24G>A (p.Ala8=) rs1348307618
NM_000709.4(BCKDHA):c.251G>A (p.Arg84Gln)
NM_000709.4(BCKDHA):c.252G>A (p.Arg84=)
NM_000709.4(BCKDHA):c.252G>T (p.Arg84=) rs2123254022
NM_000709.4(BCKDHA):c.253C>T (p.Gln85Ter)
NM_000709.4(BCKDHA):c.258C>G (p.Gly86=) rs2123254043
NM_000709.4(BCKDHA):c.276C>T (p.Ser92=)
NM_000709.4(BCKDHA):c.277G>T (p.Glu93Ter)
NM_000709.4(BCKDHA):c.282C>A (p.Asp94Glu)
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.28G>T (p.Val10Phe) rs1307495247
NM_000709.4(BCKDHA):c.291G>A (p.Leu97=)
NM_000709.4(BCKDHA):c.294G>C (p.Pro98=) rs142967869
NM_000709.4(BCKDHA):c.303G>C (p.Lys101Asn)
NM_000709.4(BCKDHA):c.306G>A (p.Val102=) rs755966459
NM_000709.4(BCKDHA):c.308T>C (p.Leu103Pro)
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>G (p.Tyr106Ter)
NM_000709.4(BCKDHA):c.318C>T (p.Tyr106=)
NM_000709.4(BCKDHA):c.319A>T (p.Lys107Ter)
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.33G>A (p.Trp11Ter) rs1207966026
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.357_358del (p.Leu119_Tyr120insTer) rs2123254646
NM_000709.4(BCKDHA):c.35G>A (p.Arg12Gln) rs769659202
NM_000709.4(BCKDHA):c.35G>C (p.Arg12Pro) rs769659202
NM_000709.4(BCKDHA):c.367C>T (p.Gln123Ter) rs2039247540
NM_000709.4(BCKDHA):c.371G>C (p.Arg124Pro) rs752700457
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+1G>A
NM_000709.4(BCKDHA):c.375+2T>G
NM_000709.4(BCKDHA):c.375+5G>A
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.376-2A>G
NM_000709.4(BCKDHA):c.376-3dup rs2123259752
NM_000709.4(BCKDHA):c.376-8A>T rs398123501
NM_000709.4(BCKDHA):c.376-9C>T rs555417586
NM_000709.4(BCKDHA):c.379C>T (p.Arg127Trp)
NM_000709.4(BCKDHA):c.387C>T (p.Ser129=)
NM_000709.4(BCKDHA):c.397A>G (p.Thr133Ala)
NM_000709.4(BCKDHA):c.39A>G (p.Leu13=)
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.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.43C>T (p.Arg15Cys) rs371408960
NM_000709.4(BCKDHA):c.441C>G (p.Ala147=) rs2039284438
NM_000709.4(BCKDHA):c.453G>A (p.Thr151=)
NM_000709.4(BCKDHA):c.454G>A (p.Asp152Asn) rs2122122610
NM_000709.4(BCKDHA):c.456C>A (p.Asp152Glu)
NM_000709.4(BCKDHA):c.459G>A (p.Leu153=)
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.484G>A (p.Gly162Ser) rs2039285328
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.485G>A (p.Gly162Asp)
NM_000709.4(BCKDHA):c.489G>A (p.Val163=) rs2122134466
NM_000709.4(BCKDHA):c.495G>A (p.Met165Ile) rs754327984
NM_000709.4(BCKDHA):c.507C>G (p.Tyr169Ter)
NM_000709.4(BCKDHA):c.510C>T (p.Pro170=)
NM_000709.4(BCKDHA):c.511del (p.Leu171fs) rs762084007
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.55C>T (p.Gln19Ter)
NM_000709.4(BCKDHA):c.566G>A (p.Arg189His)
NM_000709.4(BCKDHA):c.567C>T (p.Arg189=)
NM_000709.4(BCKDHA):c.582C>T (p.His194=)
NM_000709.4(BCKDHA):c.586G>A (p.Gly196Ser) rs1191782907
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.623C>T (p.Pro208Leu)
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.644_645del (p.Gln215fs)
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>A (p.Ala216=)
NM_000709.4(BCKDHA):c.648G>C (p.Ala216=)
NM_000709.4(BCKDHA):c.648G>T (p.Ala216=) rs114716391
NM_000709.4(BCKDHA):c.653G>C (p.Gly218Ala) rs2039372961
NM_000709.4(BCKDHA):c.657G>C (p.Ala219=)
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.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.673C>T (p.Arg225Trp)
NM_000709.4(BCKDHA):c.675G>T (p.Arg225=) rs2122142848
NM_000709.4(BCKDHA):c.677C>T (p.Ala226Val)
NM_000709.4(BCKDHA):c.67del (p.Leu23fs)
NM_000709.4(BCKDHA):c.694G>A (p.Val232Ile)
NM_000709.4(BCKDHA):c.699_700del (p.Ile233fs)
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.701_702del (p.Cys234fs) rs2122142979
NM_000709.4(BCKDHA):c.705C>T (p.Tyr235=) rs2039374030
NM_000709.4(BCKDHA):c.709G>A (p.Gly237Ser)
NM_000709.4(BCKDHA):c.712G>A (p.Glu238Lys)
NM_000709.4(BCKDHA):c.712G>T (p.Glu238Ter) rs1303770209
NM_000709.4(BCKDHA):c.718del (p.Ala240fs) rs1555766993
NM_000709.4(BCKDHA):c.723C>T (p.Ala241=) rs2122143075
NM_000709.4(BCKDHA):c.731G>T (p.Gly244Val)
NM_000709.4(BCKDHA):c.740A>G (p.His247Arg) rs1468416468
NM_000709.4(BCKDHA):c.741dup (p.Ala248fs) rs398123504
NM_000709.4(BCKDHA):c.743C>T (p.Ala248Val) rs887411374
NM_000709.4(BCKDHA):c.745G>T (p.Gly249Cys) rs137852874
NM_000709.4(BCKDHA):c.746G>T (p.Gly249Val)
NM_000709.4(BCKDHA):c.753C>T (p.Asn251=)
NM_000709.4(BCKDHA):c.75G>A (p.Leu25=) rs1599945228
NM_000709.4(BCKDHA):c.761C>A (p.Ala254Asp) rs373713279
NM_000709.4(BCKDHA):c.762C>T (p.Ala254=)
NM_000709.4(BCKDHA):c.765A>G (p.Thr255=) rs1305172669
NM_000709.4(BCKDHA):c.776C>T (p.Pro259Leu) rs2122143393
NM_000709.4(BCKDHA):c.777C>T (p.Pro259=)
NM_000709.4(BCKDHA):c.782TCT[2] (p.Phe263del) rs398123505
NM_000709.4(BCKDHA):c.789C>T (p.Phe263=)
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.800A>G (p.Asn267Ser)
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.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.835del (p.Tyr279fs)
NM_000709.4(BCKDHA):c.838C>T (p.Arg280Cys)
NM_000709.4(BCKDHA):c.842G>T (p.Gly281Val) rs886054461
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+1G>C
NM_000709.4(BCKDHA):c.853+20C>T
NM_000709.4(BCKDHA):c.853+2T>C
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.859C>G (p.Arg287Gly) rs764247545
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.87G>A (p.Gly29=) rs1599945255
NM_000709.4(BCKDHA):c.888C>T (p.Ile296=) rs1237555239
NM_000709.4(BCKDHA):c.904G>A (p.Asp302Asn)
NM_000709.4(BCKDHA):c.905A>C (p.Asp302Ala) rs398123509
NM_000709.4(BCKDHA):c.905A>G (p.Asp302Gly)
NM_000709.4(BCKDHA):c.906T>A (p.Asp302Glu)
NM_000709.4(BCKDHA):c.909_910del (p.Phe304fs) rs398123510
NM_000709.4(BCKDHA):c.918A>C (p.Val306=)
NM_000709.4(BCKDHA):c.925G>T (p.Ala309Ser)
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.949G>T (p.Ala317Ser)
NM_000709.4(BCKDHA):c.963C>T (p.Asn321=) rs2122145204
NM_000709.4(BCKDHA):c.964C>T (p.Gln322Ter) rs398123513
NM_000709.4(BCKDHA):c.968C>G (p.Pro323Arg) rs779466371
NM_000709.4(BCKDHA):c.978C>A (p.Ile326=) rs398123514
NM_000709.4(BCKDHA):c.978C>G (p.Ile326Met)
NM_000709.4(BCKDHA):c.981G>A (p.Glu327=)
NM_000709.4(BCKDHA):c.981G>C (p.Glu327Asp) rs2039382789
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+18del
NM_000709.4(BCKDHA):c.995+18dup
NM_000709.4(BCKDHA):c.995+1G>A rs2039383036
NM_000709.4(BCKDHA):c.995+20T>C
NM_000709.4(BCKDHA):c.995+2T>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.996-2A>G rs2122146208
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
NM_001918.5(DBT):c.1002G>T (p.Gln334His)
NM_001918.5(DBT):c.1014T>C (p.Tyr338=)
NM_001918.5(DBT):c.1017+10G>A
NM_001918.5(DBT):c.1017+11C>G
NM_001918.5(DBT):c.1017+15G>A
NM_001918.5(DBT):c.1017+16T>A
NM_001918.5(DBT):c.1017+1G>A
NM_001918.5(DBT):c.1017+1G>T
NM_001918.5(DBT):c.1018-10dup rs1287581664
NM_001918.5(DBT):c.1018-15T>C
NM_001918.5(DBT):c.1018-16A>T
NM_001918.5(DBT):c.1018-17A>G
NM_001918.5(DBT):c.1018-2A>T
NM_001918.5(DBT):c.1018-3del rs2100780335
NM_001918.5(DBT):c.1018-4T>C
NM_001918.5(DBT):c.1018-7T>G rs2100780347
NM_001918.5(DBT):c.1018-9A>G rs2100780356
NM_001918.5(DBT):c.1018-9del rs2100780359
NM_001918.5(DBT):c.1032T>C (p.Ile344=)
NM_001918.5(DBT):c.1056G>A (p.Gln352=) rs2100780252
NM_001918.5(DBT):c.1061T>C (p.Leu354Ser) rs1296308942
NM_001918.5(DBT):c.1065T>A (p.Ile355=)
NM_001918.5(DBT):c.1068C>T (p.Val356=)
NM_001918.5(DBT):c.1077G>A (p.Val359=)
NM_001918.5(DBT):c.1089G>A (p.Gln363=) rs2100780197
NM_001918.5(DBT):c.1098T>G (p.Ser366=) rs1422504862
NM_001918.5(DBT):c.1107C>T (p.Asp369=) rs2100780132
NM_001918.5(DBT):c.1116T>C (p.Thr372=)
NM_001918.5(DBT):c.1126C>T (p.Arg376Cys) rs768389398
NM_001918.5(DBT):c.1131C>T (p.Leu377=) rs1661802261
NM_001918.5(DBT):c.113_114del (p.Cys38fs) rs2100844690
NM_001918.5(DBT):c.1140G>A (p.Leu380=) rs2100780071
NM_001918.5(DBT):c.1152T>C (p.Ser384=) rs2100780004
NM_001918.5(DBT):c.1158C>G (p.Leu386=) rs139943180
NM_001918.5(DBT):c.1170T>G (p.Asp390Glu) rs1661798658
NM_001918.5(DBT):c.1173T>C (p.Leu391=)
NM_001918.5(DBT):c.1185A>T (p.Thr395=)
NM_001918.5(DBT):c.1191T>A (p.Thr397=) rs2100779891
NM_001918.5(DBT):c.1191T>C (p.Thr397=) rs2100779891
NM_001918.5(DBT):c.1195T>G (p.Ser399Ala) rs1553229654
NM_001918.5(DBT):c.1195del (p.Ser399fs) rs2100779888
NM_001918.5(DBT):c.1200C>T (p.Asn400=)
NM_001918.5(DBT):c.1209+9T>C
NM_001918.5(DBT):c.1209+9_1209+10dup
NM_001918.5(DBT):c.120T>C (p.Phe40=)
NM_001918.5(DBT):c.1210-10del rs398123658
NM_001918.5(DBT):c.1210-10dup rs398123658
NM_001918.5(DBT):c.1210-11_1210-10inv
NM_001918.5(DBT):c.1210-12T>A
NM_001918.5(DBT):c.1210-12T>G
NM_001918.5(DBT):c.1210-1G>C
NM_001918.5(DBT):c.1210-3T>A
NM_001918.5(DBT):c.1210-4del rs201117345
NM_001918.5(DBT):c.1210-4dup rs201117345
NM_001918.5(DBT):c.1210-8_1210-7insT
NM_001918.5(DBT):c.1210-9_1210-8insTT
NM_001918.5(DBT):c.1210-9_1210-8inv
NM_001918.5(DBT):c.1212T>C (p.Ile404=)
NM_001918.5(DBT):c.1212T>G (p.Ile404Met) rs2100779467
NM_001918.5(DBT):c.1215T>C (p.Gly405=)
NM_001918.5(DBT):c.1219A>G (p.Thr407Ala)
NM_001918.5(DBT):c.1221C>T (p.Thr407=)
NM_001918.5(DBT):c.1227C>T (p.Ala409=)
NM_001918.5(DBT):c.1230A>C (p.Lys410Asn)
NM_001918.5(DBT):c.1232C>T (p.Pro411Leu) rs2100779419
NM_001918.5(DBT):c.1238T>C (p.Ile413Thr)
NM_001918.5(DBT):c.123T>C (p.Gly41=) rs2100844658
NM_001918.5(DBT):c.1245A>G (p.Pro415=)
NM_001918.5(DBT):c.1248T>C (p.Pro416=) rs2100779369
NM_001918.5(DBT):c.1251A>G (p.Glu417=)
NM_001918.5(DBT):c.1259T>C (p.Ile420Thr)
NM_001918.5(DBT):c.1260T>C (p.Ile420=)
NM_001918.5(DBT):c.1264G>A (p.Ala422Thr)
NM_001918.5(DBT):c.1264dup (p.Ala422fs) rs1401829291
NM_001918.5(DBT):c.126T>G (p.Tyr42Ter) rs794727262
NM_001918.5(DBT):c.1275A>G (p.Ser425=) rs1570806049
NM_001918.5(DBT):c.1276A>G (p.Ile426Val) rs1471693880
NM_001918.5(DBT):c.1281+10T>C rs2100779244
NM_001918.5(DBT):c.1281+13G>A
NM_001918.5(DBT):c.1281+18C>T
NM_001918.5(DBT):c.1281+1G>C rs1557943881
NM_001918.5(DBT):c.1281+2T>A rs2100779270
NM_001918.5(DBT):c.1281+8_1281+20del
NM_001918.5(DBT):c.1281+9A>G
NM_001918.5(DBT):c.1282-10_1282-9dup
NM_001918.5(DBT):c.1282-11_1282-9del
NM_001918.5(DBT):c.1282-12_1282-9del rs1557939390
NM_001918.5(DBT):c.1282-13T>A rs1374973220
NM_001918.5(DBT):c.1282-13T>C
NM_001918.5(DBT):c.1282-14T>A rs1315625069
NM_001918.5(DBT):c.1282-14_1282-9del rs760164623
NM_001918.5(DBT):c.1282-15T>A rs763988935
NM_001918.5(DBT):c.1282-15_1282-9del rs1557939402
NM_001918.5(DBT):c.1282-16T>A
NM_001918.5(DBT):c.1282-16T>C
NM_001918.5(DBT):c.1282-16_1282-9del
NM_001918.5(DBT):c.1282-18T>C
NM_001918.5(DBT):c.1282-18_1282-10del rs752915898
NM_001918.5(DBT):c.1282-19T>C
NM_001918.5(DBT):c.1282-19_1282-10del rs752915898
NM_001918.5(DBT):c.1282-20T>C
NM_001918.5(DBT):c.1282-20_1282-10del rs752915898
NM_001918.5(DBT):c.1282-21_1282-10del rs752915898
NM_001918.5(DBT):c.1282-21_1282-10dup rs752915898
NM_001918.5(DBT):c.1282-22_1282-10del
NM_001918.5(DBT):c.1282-23_1282-10del rs752915898
NM_001918.5(DBT):c.1282-24_1282-10del rs752915898
NM_001918.5(DBT):c.1282-24_1282-10dup rs752915898
NM_001918.5(DBT):c.1282-25_1282-10del rs752915898
NM_001918.5(DBT):c.1282-26_1282-10del rs752915898
NM_001918.5(DBT):c.1282-4C>A rs1410431336
NM_001918.5(DBT):c.1282-4C>T rs1410431336
NM_001918.5(DBT):c.1282-7T>C
NM_001918.5(DBT):c.1282-8A>G rs764781766
NM_001918.5(DBT):c.1282-9C>A rs1404199687
NM_001918.5(DBT):c.1282-9dup
NM_001918.5(DBT):c.1283C>T (p.Ala428Val) rs2100761237
NM_001918.5(DBT):c.1292G>C (p.Arg431Pro) rs776490043
NM_001918.5(DBT):c.129T>G (p.Pro43=)
NM_001918.5(DBT):c.1309G>A (p.Glu437Lys) rs772490888
NM_001918.5(DBT):c.1314A>G (p.Val438=)
NM_001918.5(DBT):c.1317T>C (p.Tyr439=) rs2100761130
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.1347A>G (p.Ser449=)
NM_001918.5(DBT):c.1372G>T (p.Ala458Ser)
NM_001918.5(DBT):c.1375A>G (p.Thr459Ala)
NM_001918.5(DBT):c.1382C>A (p.Ser461Ter) rs1553228626
NM_001918.5(DBT):c.1383A>C (p.Ser461=) rs2100760925
NM_001918.5(DBT):c.1385G>C (p.Arg462Pro) rs750594890
NM_001918.5(DBT):c.1389C>T (p.Phe463=) rs886044964
NM_001918.5(DBT):c.138G>A (p.Lys46=)
NM_001918.5(DBT):c.1394A>G (p.Asn465Ser)
NM_001918.5(DBT):c.1398G>A (p.Leu466=) rs1661085210
NM_001918.5(DBT):c.1407C>G (p.Ser469=) rs2100760846
NM_001918.5(DBT):c.1410T>C (p.Tyr470=) rs2100760833
NM_001918.5(DBT):c.1419C>T (p.Asn473=)
NM_001918.5(DBT):c.1420C>A (p.Pro474Thr)
NM_001918.5(DBT):c.143_146dup (p.His49fs) rs1384034981
NM_001918.5(DBT):c.1441C>T (p.Leu481=)
NM_001918.5(DBT):c.14G>A (p.Arg5His)
NM_001918.5(DBT):c.159C>T (p.Phe53=) rs772209054
NM_001918.5(DBT):c.165AAC[1] (p.Thr57del) rs771945254
NM_001918.5(DBT):c.16A>G (p.Met6Val)
NM_001918.5(DBT):c.175+10A>G
NM_001918.5(DBT):c.175+16A>G
NM_001918.5(DBT):c.175+1G>A rs2100844517
NM_001918.5(DBT):c.175+7A>T
NM_001918.5(DBT):c.176-15C>G
NM_001918.5(DBT):c.176-15C>T
NM_001918.5(DBT):c.17dup (p.Met6fs) rs2100772715
NM_001918.5(DBT):c.181C>T (p.Arg61Cys)
NM_001918.5(DBT):c.182G>A (p.Arg61His)
NM_001918.5(DBT):c.207C>G (p.Leu69=)
NM_001918.5(DBT):c.207C>T (p.Leu69=)
NM_001918.5(DBT):c.215T>C (p.Ile72Thr) rs565879664
NM_001918.5(DBT):c.225G>A (p.Gly75=) rs2100834832
NM_001918.5(DBT):c.228T>C (p.Ile76=)
NM_001918.5(DBT):c.230G>A (p.Arg77Lys)
NM_001918.5(DBT):c.241_242del (p.Thr80_Val81insTer) rs2100834784
NM_001918.5(DBT):c.243T>G (p.Val81=)
NM_001918.5(DBT):c.246A>G (p.Lys82=)
NM_001918.5(DBT):c.247del (p.Glu83fs)
NM_001918.5(DBT):c.251+15A>G
NM_001918.5(DBT):c.251+17A>G
NM_001918.5(DBT):c.251+18A>G
NM_001918.5(DBT):c.251+19dup rs201469612
NM_001918.5(DBT):c.251+8A>T
NM_001918.5(DBT):c.251+9A>G
NM_001918.5(DBT):c.252-12T>G
NM_001918.5(DBT):c.252-1G>T rs1663522846
NM_001918.5(DBT):c.252-8T>C rs2100827755
NM_001918.5(DBT):c.258A>G (p.Val86=)
NM_001918.5(DBT):c.260AAG[1] (p.Glu88del) rs1217050849
NM_001918.5(DBT):c.261del (p.Glu88fs) rs1570836175
NM_001918.5(DBT):c.264A>G (p.Glu88=) rs1557956728
NM_001918.5(DBT):c.272_275del (p.Thr91fs) rs398123666
NM_001918.5(DBT):c.273A>C (p.Thr91=) rs2100827682
NM_001918.5(DBT):c.273A>G (p.Thr91=)
NM_001918.5(DBT):c.280C>T (p.Gln94Ter)
NM_001918.5(DBT):c.282G>A (p.Gln94=) rs2100827660
NM_001918.5(DBT):c.288T>C (p.Asp96=)
NM_001918.5(DBT):c.292A>G (p.Ile98Val)
NM_001918.5(DBT):c.296G>A (p.Cys99Tyr) rs1557956678
NM_001918.5(DBT):c.29G>A (p.Trp10Ter) rs572340170
NM_001918.5(DBT):c.300A>G (p.Glu100=) rs772023545
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.311A>T (p.Asp104Val) rs1553232188
NM_001918.5(DBT):c.321T>A (p.Ser107=)
NM_001918.5(DBT):c.333T>C (p.Thr111=)
NM_001918.5(DBT):c.336T>C (p.Ser112=) rs1254104594
NM_001918.5(DBT):c.342T>C (p.Tyr114=) rs1207748719
NM_001918.5(DBT):c.351C>T (p.Val117=) rs767953425
NM_001918.5(DBT):c.363_364del (p.Tyr122fs) rs753574354
NM_001918.5(DBT):c.364dup (p.Tyr122fs)
NM_001918.5(DBT):c.365_366del (p.Tyr122fs) rs2100827350
NM_001918.5(DBT):c.366T>C (p.Tyr122=)
NM_001918.5(DBT):c.369T>C (p.Tyr123=) rs2100827345
NM_001918.5(DBT):c.36G>A (p.Arg12=) rs147775797
NM_001918.5(DBT):c.36G>C (p.Arg12Ser)
NM_001918.5(DBT):c.384T>C (p.Ile128=) rs918466852
NM_001918.5(DBT):c.398A>T (p.Lys133Met)
NM_001918.5(DBT):c.39T>C (p.Asn13=) rs1431500513
NM_001918.5(DBT):c.408A>G (p.Val136=) rs528365976
NM_001918.5(DBT):c.427T>C (p.Leu143=) rs2100827179
NM_001918.5(DBT):c.42G>C (p.Ala14=)
NM_001918.5(DBT):c.42G>T (p.Ala14=) rs758610837
NM_001918.5(DBT):c.433+10G>A rs1024314250
NM_001918.5(DBT):c.433+10G>C rs1024314250
NM_001918.5(DBT):c.433+13T>G
NM_001918.5(DBT):c.433+17A>C
NM_001918.5(DBT):c.433+6G>A
NM_001918.5(DBT):c.433+7dup rs2100827150
NM_001918.5(DBT):c.433+8A>G
NM_001918.5(DBT):c.434-11C>T
NM_001918.5(DBT):c.434-14T>C
NM_001918.5(DBT):c.434-17T>G
NM_001918.5(DBT):c.434-1G>A rs754004231
NM_001918.5(DBT):c.434-4C>T
NM_001918.5(DBT):c.437C>A (p.Ser146Ter)
NM_001918.5(DBT):c.442G>T (p.Glu148Ter) rs1570820579
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.457del (p.Thr153fs)
NM_001918.5(DBT):c.45G>T (p.Gly15=)
NM_001918.5(DBT):c.465A>C (p.Ala155=)
NM_001918.5(DBT):c.474T>C (p.His158=) rs2100804457
NM_001918.5(DBT):c.475G>A (p.Asp159Asn)
NM_001918.5(DBT):c.479A>C (p.Glu160Ala)
NM_001918.5(DBT):c.480A>G (p.Glu160=)
NM_001918.5(DBT):c.483T>C (p.His161=) rs2100804431
NM_001918.5(DBT):c.488_489del (p.His163fs) rs760861011
NM_001918.5(DBT):c.4G>A (p.Ala2Thr) rs760664814
NM_001918.5(DBT):c.501G>A (p.Lys167=)
NM_001918.5(DBT):c.501_513del (p.Lys167fs)
NM_001918.5(DBT):c.51+11T>C
NM_001918.5(DBT):c.51+13_51+14insT
NM_001918.5(DBT):c.51+14G>C
NM_001918.5(DBT):c.51+18G>C
NM_001918.5(DBT):c.51+18G>T
NM_001918.5(DBT):c.51+1G>T rs398123669
NM_001918.5(DBT):c.51+7A>G
NM_001918.5(DBT):c.510A>G (p.Lys170=) rs1570820389
NM_001918.5(DBT):c.512C>T (p.Thr171Ile)
NM_001918.5(DBT):c.514C>T (p.Leu172=) rs1344704881
NM_001918.5(DBT):c.516_522del (p.Ala173fs) rs2100804340
NM_001918.5(DBT):c.52-10T>G
NM_001918.5(DBT):c.52-18T>G rs1052822218
NM_001918.5(DBT):c.52-4G>A rs2100844854
NM_001918.5(DBT):c.52-5T>C
NM_001918.5(DBT):c.52-6del rs2100844868
NM_001918.5(DBT):c.52-9C>T
NM_001918.5(DBT):c.528A>G (p.Ala176=)
NM_001918.5(DBT):c.531_537del (p.Arg178fs) rs1372109444
NM_001918.5(DBT):c.533G>A (p.Arg178His)
NM_001918.5(DBT):c.537T>C (p.Arg179=)
NM_001918.5(DBT):c.538C>G (p.Leu180Val) rs2100804291
NM_001918.5(DBT):c.549A>G (p.Glu183=) rs2100804264
NM_001918.5(DBT):c.54T>C (p.Ile18=) rs1171616529
NM_001918.5(DBT):c.555+8C>A rs548611008
NM_001918.5(DBT):c.555+8C>T
NM_001918.5(DBT):c.555dup (p.Ile186fs)
NM_001918.5(DBT):c.556-12A>G
NM_001918.5(DBT):c.556-14A>G
NM_001918.5(DBT):c.556-3dup
NM_001918.5(DBT):c.556-5T>C
NM_001918.5(DBT):c.576T>C (p.Val192=)
NM_001918.5(DBT):c.577G>A (p.Gly193Ser) rs398123671
NM_001918.5(DBT):c.579C>T (p.Gly193=)
NM_001918.5(DBT):c.581C>A (p.Ser194Ter)
NM_001918.5(DBT):c.595A>G (p.Arg199Gly) rs2100799976
NM_001918.5(DBT):c.630A>G (p.Glu210=)
NM_001918.5(DBT):c.634C>T (p.Gln212Ter) rs1553230841
NM_001918.5(DBT):c.639del (p.Gly214fs)
NM_001918.5(DBT):c.63C>G (p.Arg21=)
NM_001918.5(DBT):c.642A>C (p.Gly214=)
NM_001918.5(DBT):c.645T>G (p.Ala215=)
NM_001918.5(DBT):c.650dup (p.Leu217fs)
NM_001918.5(DBT):c.663C>T (p.Pro221=) rs1662468729
NM_001918.5(DBT):c.666A>G (p.Lys222=)
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.696A>G (p.Pro232=) rs2100799691
NM_001918.5(DBT):c.6T>A (p.Ala2=) rs1240475402
NM_001918.5(DBT):c.6T>G (p.Ala2=) rs1240475402
NM_001918.5(DBT):c.702C>T (p.Asp234=)
NM_001918.5(DBT):c.709G>C (p.Val237Leu) rs947272551
NM_001918.5(DBT):c.714T>C (p.Pro238=)
NM_001918.5(DBT):c.715A>C (p.Ile239Leu)
NM_001918.5(DBT):c.725C>G (p.Ser242Ter) rs201559874
NM_001918.5(DBT):c.735G>A (p.Pro245=)
NM_001918.5(DBT):c.741C>T (p.Phe247=)
NM_001918.5(DBT):c.744A>C (p.Thr248=) rs765082016
NM_001918.5(DBT):c.747C>G (p.Gly249=) rs200612682
NM_001918.5(DBT):c.75A>T (p.Thr25=)
NM_001918.5(DBT):c.762del (p.Glu254fs) rs2100799447
NM_001918.5(DBT):c.772+11T>C
NM_001918.5(DBT):c.772+17C>G
NM_001918.5(DBT):c.772+17_772+19del
NM_001918.5(DBT):c.772+19A>G
NM_001918.5(DBT):c.772+1G>C rs2100799417
NM_001918.5(DBT):c.772+2T>G
NM_001918.5(DBT):c.772+7A>G
NM_001918.5(DBT):c.772+8T>C
NM_001918.5(DBT):c.772+8TAA[2]
NM_001918.5(DBT):c.772+9A>G rs2100799392
NM_001918.5(DBT):c.773-14T>G
NM_001918.5(DBT):c.773-4T>C
NM_001918.5(DBT):c.783del (p.Ala262fs)
NM_001918.5(DBT):c.787A>G (p.Met263Val) rs753685282
NM_001918.5(DBT):c.788T>C (p.Met263Thr) rs1553230703
NM_001918.5(DBT):c.792C>G (p.Val264=) rs2100797477
NM_001918.5(DBT):c.799A>T (p.Met267Leu)
NM_001918.5(DBT):c.799_800del (p.Met267fs)
NM_001918.5(DBT):c.804T>A (p.Ser268=) rs1283378890
NM_001918.5(DBT):c.804T>C (p.Ser268=) rs1283378890
NM_001918.5(DBT):c.813G>A (p.Leu271=)
NM_001918.5(DBT):c.828del (p.Phe276fs)
NM_001918.5(DBT):c.82_84dup (p.Asn28dup) rs746916491
NM_001918.5(DBT):c.831T>C (p.Gly277=) rs2100797397
NM_001918.5(DBT):c.834T>C (p.Tyr278=) rs2100797369
NM_001918.5(DBT):c.849C>T (p.Asp283=)
NM_001918.5(DBT):c.84T>C (p.Asn28=)
NM_001918.5(DBT):c.853A>C (p.Thr285Pro) rs1662391542
NM_001918.5(DBT):c.855T>C (p.Thr285=)
NM_001918.5(DBT):c.861G>A (p.Leu287=)
NM_001918.5(DBT):c.86T>C (p.Val29Ala) rs1473273369
NM_001918.5(DBT):c.870C>T (p.Leu290=)
NM_001918.5(DBT):c.872G>A (p.Arg291Gln)
NM_001918.5(DBT):c.872G>T (p.Arg291Leu) rs775808731
NM_001918.5(DBT):c.876A>G (p.Glu292=)
NM_001918.5(DBT):c.87T>A (p.Val29=) rs2100844766
NM_001918.5(DBT):c.881T>A (p.Leu294Ter)
NM_001918.5(DBT):c.883A>C (p.Lys295Gln) rs1158505606
NM_001918.5(DBT):c.891T>C (p.Ile297=) rs1184322880
NM_001918.5(DBT):c.894A>C (p.Ala298=)
NM_001918.5(DBT):c.897T>C (p.Phe299=) rs2100797177
NM_001918.5(DBT):c.899C>T (p.Ala300Val)
NM_001918.5(DBT):c.903T>C (p.Arg301=)
NM_001918.5(DBT):c.910_919del (p.Lys304fs) rs2100797119
NM_001918.5(DBT):c.913C>T (p.Leu305Phe)
NM_001918.5(DBT):c.915C>T (p.Leu305=) rs2100797139
NM_001918.5(DBT):c.916T>C (p.Ser306Pro) rs2100797134
NM_001918.5(DBT):c.917C>G (p.Ser306Cys) rs794727856
NM_001918.5(DBT):c.932T>C (p.Phe311Ser) rs1662388035
NM_001918.5(DBT):c.933C>T (p.Phe311=) rs2100797103
NM_001918.5(DBT):c.936A>G (p.Leu312=)
NM_001918.5(DBT):c.939+10A>G rs1450707467
NM_001918.5(DBT):c.939+13C>G
NM_001918.5(DBT):c.939+7T>C
NM_001918.5(DBT):c.940-10T>C rs1306548973
NM_001918.5(DBT):c.940-17C>A
NM_001918.5(DBT):c.940-18T>G rs2100788572
NM_001918.5(DBT):c.940-4A>C
NM_001918.5(DBT):c.940-5A>C rs1296647053
NM_001918.5(DBT):c.940-7T>C rs2100788531
NM_001918.5(DBT):c.940-7del rs2100788542
NM_001918.5(DBT):c.940-9G>T
NM_001918.5(DBT):c.940G>T (p.Ala314Ser)
NM_001918.5(DBT):c.945T>C (p.Ala315=) rs2100788485
NM_001918.5(DBT):c.947_950del (p.Ser316fs)
NM_001918.5(DBT):c.960A>G (p.Leu320=) rs2100788475
NM_001918.5(DBT):c.961C>T (p.Gln321Ter) rs1662088383
NM_001918.5(DBT):c.961_962del (p.Gln321fs) rs2100788460
NM_001918.5(DBT):c.962A>T (p.Gln321Leu) rs758048048
NM_001918.5(DBT):c.963G>A (p.Gln321=) rs762063921
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.990T>C (p.Asp330=) rs2100788342
NM_001918.5(DBT):c.991G>A (p.Glu331Lys) rs2100788336
NM_001918.5(DBT):c.995A>G (p.Asn332Ser)
NM_001918.5(DBT):c.99G>A (p.Lys33=) rs2100844736
NM_001918.5(DBT):c.9A>T (p.Ala3=) rs772869478
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+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.1039-5T>C rs879095937
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.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.1115A>T (p.Glu372Val) rs1554216344
NM_183050.4(BCKDHB):c.1119A>G (p.Pro373=)
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.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.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.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.15G>A (p.Ala5=) rs772066588
NM_183050.4(BCKDHB):c.15G>C (p.Ala5=) rs772066588
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.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+13A>G
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.197-15_197-14insA
NM_183050.4(BCKDHB):c.197-1G>C
NM_183050.4(BCKDHB):c.197-2A>C
NM_183050.4(BCKDHB):c.197-5C>T rs1374556799
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.203C>T (p.Thr68Ile)
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.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.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.275-20A>C
NM_183050.4(BCKDHB):c.275-20A>G
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.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.321T>C (p.Thr107=)
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>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.348del (p.Asp117fs) rs1400121541
NM_183050.4(BCKDHB):c.349G>A (p.Asp117Asn)
NM_183050.4(BCKDHB):c.352dup (p.Arg118fs)
NM_183050.4(BCKDHB):c.360T>C (p.Phe120=) rs770355362
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.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.403G>A (p.Gly135Arg) rs751953459
NM_183050.4(BCKDHB):c.410C>A (p.Ala137Glu) rs776631396
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.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+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.478-4T>G
NM_183050.4(BCKDHB):c.478-6C>T rs879247086
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.501T>C (p.Tyr167=)
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.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>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.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.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.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.595_596del (p.Ser199_Pro200insTer) rs398124587
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.617A>C (p.His206Pro) rs1562104694
NM_183050.4(BCKDHB):c.633+14T>C
NM_183050.4(BCKDHB):c.633+15G>A
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.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.667G>T (p.Gly223Ter) rs1248040495
NM_183050.4(BCKDHB):c.673C>G (p.Leu225Val)
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.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.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.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.790G>A (p.Glu264Lys)
NM_183050.4(BCKDHB):c.794T>C (p.Val265Ala)
NM_183050.4(BCKDHB):c.796A>G (p.Ile266Val)
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.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.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+20A>G
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.84C>A (p.Gly28=)
NM_183050.4(BCKDHB):c.84C>G (p.Gly28=) rs776261412
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.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.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+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.952-2A>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.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.975G>T (p.Leu325=)
NM_183050.4(BCKDHB):c.976C>T (p.Leu326=) rs2127965109
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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