ClinVar Miner

List of variants in gene BCKDHA studied for amino acid metabolism disease

Included ClinVar conditions (117):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 672
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000709.4(BCKDHA):c.853+61T>C rs284651 0.66684
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.995+90C>T rs284655 0.66401
NM_000709.4(BCKDHA):c.995+49G>A rs284654 0.63462
NM_000709.4(BCKDHA):c.376-10A>C rs3213861 0.59120
NM_000709.4(BCKDHA):c.995+26C>T rs284653 0.37723
NM_000709.3(BCKDHA):c.-34T>G rs45500792 0.09943
NM_000709.4(BCKDHA):c.116C>A (p.Pro39His) rs11549936 0.07892
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.*309A>G rs10421626 0.02605
NM_000709.4(BCKDHA):c.639C>T (p.Ile213=) rs10404506 0.01970
NM_000709.4(BCKDHA):c.34C>A (p.Arg12=) rs34541442 0.00893
NM_000709.4(BCKDHA):c.*125C>T rs140867211 0.00851
NM_000709.4(BCKDHA):c.452C>T (p.Thr151Met) rs34442879 0.00790
NM_000709.4(BCKDHA):c.995+9C>T rs13343330 0.00750
NM_000709.4(BCKDHA):c.975C>T (p.Leu325=) rs55940366 0.00365
NM_000709.4(BCKDHA):c.484+5G>A rs149899007 0.00298
NM_000709.4(BCKDHA):c.996-18C>T rs201511678 0.00271
NM_000709.4(BCKDHA):c.485-28G>A rs114178789 0.00186
NM_000709.4(BCKDHA):c.*334C>T rs528816040 0.00133
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_000709.4(BCKDHA):c.376-4C>T rs199725420 0.00084
NM_000709.4(BCKDHA):c.1191C>T (p.Ala397=) rs374403946 0.00062
NM_000709.4(BCKDHA):c.*244C>T rs749083860 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_000709.4(BCKDHA):c.288C>T (p.His96=) rs148571328 0.00043
NM_000709.4(BCKDHA):c.*20C>A rs370480422 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_000709.3(BCKDHA):c.-25G>C rs202084220 0.00028
NM_000709.4(BCKDHA):c.117C>A (p.Pro39=) rs80014754 0.00028
NM_000709.4(BCKDHA):c.375+4C>T rs377496852 0.00025
NM_000709.4(BCKDHA):c.744C>T (p.Ala248=) rs137960127 0.00024
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_000709.4(BCKDHA):c.*314A>G rs535136507 0.00019
NM_000709.4(BCKDHA):c.843C>T (p.Gly281=) rs371343548 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_000709.4(BCKDHA):c.924C>T (p.Asn308=) rs139390622 0.00015
NM_000709.4(BCKDHA):c.*134C>T rs150173947 0.00014
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_000709.4(BCKDHA):c.1041G>A (p.Ser347=) rs144276456 0.00011
NM_000709.4(BCKDHA):c.448A>G (p.Asn150Asp) rs140612545 0.00011
NM_000709.4(BCKDHA):c.159G>C (p.Gln53His) rs775471043 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_000709.4(BCKDHA):c.1329C>T (p.Phe443=) rs148224513 0.00008
NM_000709.4(BCKDHA):c.176C>T (p.Ala59Val) rs138373035 0.00008
NM_000709.4(BCKDHA):c.*384C>T rs535473868 0.00007
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_000709.4(BCKDHA):c.*126G>A rs748757436 0.00005
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_000709.4(BCKDHA):c.*213G>A rs766667517 0.00004
NM_000709.4(BCKDHA):c.*68G>A rs375492462 0.00004
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_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.500G>A (p.Arg167Gln) rs377517768 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.910T>C (p.Phe304Leu) rs398123511 0.00003
NM_000709.4(BCKDHA):c.946C>T (p.Arg316Trp) rs758442329 0.00003
NM_000709.4(BCKDHA):c.976A>G (p.Ile326Val) rs781688443 0.00003
NM_000709.4(BCKDHA):c.999C>T (p.Ile333=) rs374450070 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.261G>T (p.Gln87His) rs751862507 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_000709.4(BCKDHA):c.*17C>T rs372125840 0.00001
NM_000709.4(BCKDHA):c.*324G>A rs564517344 0.00001
NM_000709.4(BCKDHA):c.*335G>A rs886054463 0.00001
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.1069C>T (p.Gln357Ter) rs762199542 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.476G>A (p.Arg159Gln) rs773048903 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.882G>A (p.Met294Ile) rs1568508232 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.925G>A (p.Ala309Thr) rs760651615 0.00001
NM_000709.4(BCKDHA):c.929C>G (p.Thr310Arg) rs137852875 0.00001
NM_000709.4(BCKDHA):c.940C>T (p.Arg314Ter) rs753698250 0.00001
NM_000709.4(BCKDHA):c.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
NC_000019.10:g.(?_41397818)_(41414167_?)del
NC_000019.10:g.(?_41424428)_(41424831_?)del
NC_000019.9:g.(?_41903723)_(41903850_?)del
NC_000019.9:g.(?_41903723)_(41916924_?)del
NC_000019.9:g.(?_41903723)_(41930736_?)del
NC_000019.9:g.(?_41916532)_(41920072_?)del
NC_000019.9:g.(?_41925030)_(41925211_?)del
NC_000019.9:g.(?_41925030)_(41930736_?)del
NM_000709.3(BCKDHA):c.111_122del12 rs751877248
NM_000709.4(BCKDHA):c.*223T>A rs373164531
NM_000709.4(BCKDHA):c.*301G>A rs2039411821
NM_000709.4(BCKDHA):c.*365A>G rs886054464
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.1074C>A (p.Asp358Glu) rs2122146497
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.1115del (p.Gly372fs) rs2122146680
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.1168-1G>A rs2039405116
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.1179_1180del (p.Ala393_Phe394insTer)
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.1192G>T (p.Glu398Ter) rs201168715
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.1198A>T (p.Lys400Ter) rs863225262
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.121CAG[5] (p.Gln44dup) rs756657259
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.1238A>G (p.Tyr413Cys)
NM_000709.4(BCKDHA):c.123G>A (p.Gln41=) rs2123253682
NM_000709.4(BCKDHA):c.1251del (p.Ala418fs)
NM_000709.4(BCKDHA):c.1255C>T (p.Gln419Ter)
NM_000709.4(BCKDHA):c.1267CAG[1] (p.Gln424del) rs1555767305
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.1312T>C (p.Tyr438His) rs137852870
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.136del (p.Ser46fs)
NM_000709.4(BCKDHA):c.138A>T (p.Ser46=) rs1342568998
NM_000709.4(BCKDHA):c.143T>C (p.Leu48Pro) rs879103338
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.164del (p.Pro55fs)
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.196G>T (p.Glu66Ter) rs2039242789
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.292_293del (p.Pro98fs)
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>A (p.Tyr106Ter)
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.32G>A (p.Trp11Ter)
NM_000709.4(BCKDHA):c.330A>G (p.Thr110=)
NM_000709.4(BCKDHA):c.332T>C (p.Leu111Pro) rs1568503938
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.347A>G (p.Asp116Gly) rs398123498
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.376-1G>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.397del (p.Thr133fs)
NM_000709.4(BCKDHA):c.399delinsAA (p.Asn134fs) rs1057519059
NM_000709.4(BCKDHA):c.39A>G (p.Leu13=)
NM_000709.4(BCKDHA):c.3G>A (p.Met1Ile) rs1555764014
NM_000709.4(BCKDHA):c.402del (p.Tyr135fs)
NM_000709.4(BCKDHA):c.405T>A (p.Tyr135Ter) rs1459441231
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.428G>A (p.Gly143Glu) rs2039284027
NM_000709.4(BCKDHA):c.429del (p.Ser144fs)
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.469C>T (p.Gln157Ter)
NM_000709.4(BCKDHA):c.470A>C (p.Gln157Pro) rs869312125
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+1G>A rs2122122667
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.529C>T (p.Gln177Ter)
NM_000709.4(BCKDHA):c.549T>C (p.Ser183=) rs981398635
NM_000709.4(BCKDHA):c.554del (p.Leu185fs) rs1568506608
NM_000709.4(BCKDHA):c.55C>T (p.Gln19Ter)
NM_000709.4(BCKDHA):c.562G>T (p.Gly188Trp) rs1555766625
NM_000709.4(BCKDHA):c.564dup (p.Arg189fs)
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.585C>A (p.Tyr195Ter) rs575806482
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.655del (p.Ala219fs)
NM_000709.4(BCKDHA):c.657G>C (p.Ala219=)
NM_000709.4(BCKDHA):c.659del (p.Ala220fs)
NM_000709.4(BCKDHA):c.65del (p.Leu22fs) rs2123232744
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.691G>T (p.Val231Phe) rs2122142932
NM_000709.4(BCKDHA):c.694G>A (p.Val232Ile)
NM_000709.4(BCKDHA):c.695_696del (p.Val232fs)
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.746_747del (p.Gly249fs)
NM_000709.4(BCKDHA):c.753C>T (p.Asn251=)
NM_000709.4(BCKDHA):c.755_756insA (p.Phe252fs)
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.773_774delinsAA (p.Cys258Ter) rs2122143379
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.78del (p.Gln27fs) rs2123232769
NM_000709.4(BCKDHA):c.792C>G (p.Cys264Trp) rs137852876
NM_000709.4(BCKDHA):c.794G>A (p.Arg265Gln) rs761996996
NM_000709.4(BCKDHA):c.794G>C (p.Arg265Pro) rs761996996
NM_000709.4(BCKDHA):c.796_797delinsT (p.Asn266fs)
NM_000709.4(BCKDHA):c.797_798delinsT (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.844G>C (p.Asp282His) rs869312124
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+1G>T rs1555767028
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.892G>A (p.Val298Met) rs1253348004
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.931A>T (p.Lys311Ter) rs2039381583
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.955del (p.Ala319fs)
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.992dup (p.Tyr331Ter) rs1555767090
NM_000709.4(BCKDHA):c.993C>G (p.Tyr331Ter)
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.995+9C>G rs13343330
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.996-1G>A
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.996-33dup rs3217385
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

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