ClinVar Miner

List of variants reported as pathogenic for inborn disorder of branched-chain amino acid metabolism

Included ClinVar conditions (11):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 570
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001918.5(DBT):c.1150= (p.Ser384=) rs12021720 0.12900
NM_183050.4(BCKDHB):c.832G>A (p.Gly278Ser) rs386834233 0.00061
NM_001918.5(DBT):c.901C>T (p.Arg301Cys) rs185492864 0.00025
NM_001918.5(DBT):c.670G>T (p.Glu224Ter) rs74103423 0.00022
NM_000108.5(DLD):c.685G>T (p.Gly229Cys) rs121964990 0.00016
NM_183050.4(BCKDHB):c.853C>T (p.Arg285Ter) rs398124598 0.00015
NM_000709.4(BCKDHA):c.1312T>A (p.Tyr438Asn) rs137852870 0.00013
NM_001918.5(DBT):c.827T>G (p.Phe276Cys) rs121964999 0.00011
NM_183050.4(BCKDHB):c.548G>C (p.Arg183Pro) rs79761867 0.00010
NM_000709.4(BCKDHA):c.853G>C (p.Ala285Pro) rs398123508 0.00009
NM_001352514.2(HLCS):c.1974dup (p.Val659fs) rs767533946 0.00009
NM_000108.5(DLD):c.1123G>A (p.Glu375Lys) rs121964992 0.00006
NM_183050.4(BCKDHB):c.509G>A (p.Arg170His) rs371518124 0.00006
NM_005589.4(ALDH6A1):c.1156C>T (p.Arg386Ter) rs781767219 0.00005
NM_001352514.2(HLCS):c.2260dup (p.Ser754fs) rs766163167 0.00004
NM_001352514.2(HLCS):c.2341G>A (p.Asp781Asn) rs149399432 0.00004
NM_001352514.2(HLCS):c.2434C>T (p.Arg812Ter) rs146448211 0.00004
NM_001918.5(DBT):c.1018-550A>G rs796052135 0.00004
NM_001918.5(DBT):c.75_76del (p.Cys26fs) rs768832921 0.00004
NM_183050.4(BCKDHB):c.502C>T (p.Arg168Cys) rs398124579 0.00004
NM_000108.5(DLD):c.1081A>G (p.Met361Val) rs121964993 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.370C>T (p.Arg124Trp) rs398123499 0.00003
NM_000709.4(BCKDHA):c.890G>A (p.Arg297His) rs200137189 0.00003
NM_001352514.2(HLCS):c.1960+5G>A rs753887925 0.00003
NM_001352514.2(HLCS):c.1963C>T (p.Arg655Trp) rs119103229 0.00003
NM_001352514.2(HLCS):c.2121+1G>A rs1175936807 0.00003
NM_001918.5(DBT):c.252G>T (p.Trp84Cys) rs200638406 0.00003
NM_183050.4(BCKDHB):c.33_34del (p.Leu12fs) rs398124572 0.00003
NM_000108.5(DLD):c.1440A>G (p.Ile480Met) rs772512477 0.00002
NM_000108.5(DLD):c.946C>T (p.Arg316Ter) rs748682601 0.00002
NM_000709.4(BCKDHA):c.1087C>T (p.Arg363Trp) rs942815730 0.00002
NM_000709.4(BCKDHA):c.288+1G>A rs398123496 0.00002
NM_000709.4(BCKDHA):c.565C>T (p.Arg189Cys) rs886042356 0.00002
NM_000709.4(BCKDHA):c.659C>T (p.Ala220Val) rs375785084 0.00002
NM_000709.4(BCKDHA):c.889C>T (p.Arg297Cys) rs145901144 0.00002
NM_001352514.2(HLCS):c.1529T>A (p.Val510Asp) rs769499327 0.00002
NM_001352514.2(HLCS):c.1985G>A (p.Ser662Asn) rs773398782 0.00002
NM_001352514.2(HLCS):c.2134C>T (p.Arg712Ter) rs772791252 0.00002
NM_001352514.2(HLCS):c.2152G>A (p.Asp718Asn) rs119103228 0.00002
NM_001918.5(DBT):c.401C>T (p.Pro134Leu) rs1131691488 0.00002
NM_005589.4(ALDH6A1):c.1261C>T (p.Pro421Ser) rs775391997 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_000108.5(DLD):c.104dup (p.Tyr35Ter) rs753234219 0.00001
NM_000108.5(DLD):c.1463C>T (p.Pro488Leu) rs121964988 0.00001
NM_000108.5(DLD):c.803_804del (p.Gln268fs) rs764611160 0.00001
NM_000108.5(DLD):c.875+1G>A rs1328820332 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.1061G>A (p.Trp354Ter) rs1214763792 0.00001
NM_000709.4(BCKDHA):c.1069C>T (p.Gln357Ter) rs762199542 0.00001
NM_000709.4(BCKDHA):c.1234G>A (p.Val412Met) rs398123490 0.00001
NM_000709.4(BCKDHA):c.127C>T (p.Gln43Ter) rs374625613 0.00001
NM_000709.4(BCKDHA):c.130C>T (p.Gln44Ter) rs1220443382 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.632C>T (p.Thr211Met) rs398123503 0.00001
NM_000709.4(BCKDHA):c.647-1G>C rs753216964 0.00001
NM_000709.4(BCKDHA):c.647C>T (p.Ala216Val) rs369448982 0.00001
NM_000709.4(BCKDHA):c.745G>A (p.Gly249Ser) rs137852874 0.00001
NM_000709.4(BCKDHA):c.757G>A (p.Ala253Thr) rs199599175 0.00001
NM_000709.4(BCKDHA):c.793C>T (p.Arg265Trp) rs137852873 0.00001
NM_000709.4(BCKDHA):c.854-2A>G rs760494152 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.929C>G (p.Thr310Arg) rs137852875 0.00001
NM_000709.4(BCKDHA):c.940C>T (p.Arg314Ter) rs753698250 0.00001
NM_000709.4(BCKDHA):c.979G>A (p.Glu327Lys) rs398123515 0.00001
NM_001190.4(BCAT2):c.790G>A (p.Glu264Lys) rs767653663 0.00001
NM_001352514.2(HLCS):c.1088T>G (p.Leu363Arg) rs28934602 0.00001
NM_001352514.2(HLCS):c.1096dup (p.Ile366fs) rs773102942 0.00001
NM_001352514.2(HLCS):c.2182G>A (p.Gly728Ser) rs119103230 0.00001
NM_001352514.2(HLCS):c.2361_2362insT (p.Val788fs) rs760372711 0.00001
NM_001352514.2(HLCS):c.2451-1G>A rs1158898827 0.00001
NM_001918.5(DBT):c.1017G>A (p.Lys339=) rs1490661508 0.00001
NM_001918.5(DBT):c.1281+1G>T rs1557943881 0.00001
NM_001918.5(DBT):c.1291C>T (p.Arg431Ter) rs398123660 0.00001
NM_001918.5(DBT):c.1430T>G (p.Met477Arg) rs398123662 0.00001
NM_001918.5(DBT):c.206T>C (p.Leu69Pro) rs1663813561 0.00001
NM_001918.5(DBT):c.365A>G (p.Tyr122Cys) rs727503896 0.00001
NM_001918.5(DBT):c.434-15_434-4del rs727503895 0.00001
NM_001918.5(DBT):c.52-1G>A rs755914063 0.00001
NM_001918.5(DBT):c.871C>T (p.Arg291Ter) rs398123675 0.00001
NM_001918.5(DBT):c.902G>A (p.Arg301His) rs770981889 0.00001
NM_001918.5(DBT):c.939G>C (p.Lys313Asn) rs398123676 0.00001
NM_005589.4(ALDH6A1):c.1603C>T (p.Arg535Cys) rs367863044 0.00001
NM_005881.4(BCKDK):c.1159C>T (p.Gln387Ter) rs1035318937 0.00001
NM_005881.4(BCKDK):c.466C>T (p.Arg156Ter) rs397514573 0.00001
NM_014362.4(HIBCH):c.196C>T (p.Arg66Trp) rs757976755 0.00001
NM_014362.4(HIBCH):c.220-9T>G rs786200864 0.00001
NM_014362.4(HIBCH):c.365A>G (p.Tyr122Cys) rs121918329 0.00001
NM_014362.4(HIBCH):c.517+1G>A rs1021805910 0.00001
NM_014362.4(HIBCH):c.763C>T (p.Arg255Ter) rs1248460683 0.00001
NM_014362.4(HIBCH):c.79-3C>G rs778922921 0.00001
NM_014362.4(HIBCH):c.913A>G (p.Thr305Ala) rs558397748 0.00001
NM_183050.4(BCKDHB):c.1067C>T (p.Pro356Leu) rs1304667430 0.00001
NM_183050.4(BCKDHB):c.1159C>T (p.Arg387Ter) rs751599203 0.00001
NM_183050.4(BCKDHB):c.152del (p.Val51fs) rs867612284 0.00001
NM_183050.4(BCKDHB):c.181G>T (p.Glu61Ter) rs774916970 0.00001
NM_183050.4(BCKDHB):c.1A>T (p.Met1Leu) rs1005542482 0.00001
NM_183050.4(BCKDHB):c.302G>A (p.Gly101Asp) rs398124571 0.00001
NM_183050.4(BCKDHB):c.410C>T (p.Ala137Val) rs776631396 0.00001
NM_183050.4(BCKDHB):c.554C>T (p.Pro185Leu) rs148905512 0.00001
NM_183050.4(BCKDHB):c.564T>A (p.Cys188Ter) rs774306610 0.00001
NM_183050.4(BCKDHB):c.633+1G>A rs398124589 0.00001
NM_183050.4(BCKDHB):c.641T>A (p.Ile214Lys) rs796051940 0.00001
NM_183050.4(BCKDHB):c.752T>C (p.Val251Ala) rs398124593 0.00001
NM_183050.4(BCKDHB):c.799C>T (p.Gln267Ter) rs398124594 0.00001
NM_183050.4(BCKDHB):c.79_89del (p.Pro27fs) rs1057516795 0.00001
NM_183050.4(BCKDHB):c.970C>T (p.Arg324Ter) rs398124603 0.00001
BCAT2, INS/DEL, NT1154
BCKDHB, 8-BP INS, NT1109
NC_000001.10:g.(?_100652477)_(100661979_100671785)del
NC_000001.10:g.(?_100661811)_(100661998_?)del
NC_000001.10:g.(?_100661892)_(100681288_?)del
NC_000001.10:g.(?_100680363)_(100684318_?)del
NC_000001.10:g.(?_100715306)_(100715376_?)del
NC_000001.11:g.(?_100196235)_(100196442_?)del
NC_000001.11:g.(?_100214807)_(100230924_?)del
NC_000001.11:g.(?_100240741)_(100240904_?)del
NC_000001.11:g.(?_100240751)_(100240894_?)del
NC_000006.11:g.(?_79650410)_(80912949_?)del
NC_000006.11:g.(?_79650410)_(81053521_?)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)_(80837361_?)del
NC_000006.11:g.(?_80816411)_(80912949_?)del
NC_000006.11:g.(?_80816411)_(81053521_?)del
NC_000006.11:g.(?_80837244)_(80838966_?)del
NC_000006.11:g.(?_80837244)_(80982958_?)del
NC_000006.11:g.(?_80877385)_(80878757_?)del
NC_000006.11:g.(?_80880989)_(81055997_?)del
NC_000006.11:g.(?_80910631)_(80912949_?)del
NC_000006.11:g.(?_80910651)_(80910770_?)del
NC_000006.11:g.(?_80982832)_(81053521_?)del
NC_000006.11:g.(?_81053361)_(81053521_?)del
NC_000006.12:g.(?_80106674)_(80106909_?)del
NC_000006.12:g.(?_80167668)_(80171400_?)del
NC_000006.12:g.(?_80200924)_(80201041_?)del
NC_000007.13:g.(?_107412489)_(107559714_?)del
NC_000007.13:g.(?_107531696)_(107533743_?)del
NC_000007.13:g.(?_107542163)_(107559704_?)del
NC_000007.13:g.(?_107556049)_(107558012_?)del
NC_000007.14:g.(?_107901728)_(107906378_?)del
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.(?_41916522)_(41932683_?)del
NC_000019.9:g.(?_41916532)_(41920072_?)del
NC_000019.9:g.(?_41925020)_(41929094_?)del
NC_000019.9:g.(?_41925030)_(41930736_?)del
NC_000019.9:g.(?_41928059)_(41930736_?)del
NC_000021.8:g.(?_37707582)_(38139606_?)del
NC_000021.8:g.(?_38128823)_(38139606_?)del
NC_000021.8:g.(?_38132018)_(38362704_?)del
NC_000021.8:g.(?_38269140)_(38269451_?)del
NC_000021.8:g.(?_38269140)_(38311203_?)del
NC_000021.8:g.(?_38269150)_(38269441_?)del
NC_000021.8:g.(?_38302531)_(38302753_?)del
NC_000021.8:g.(?_38302541)_(38311304_?)del
NC_000021.9:g.(?_36765002)_(36767295_?)del
NC_000021.9:g.(?_36938822)_(36939004_?)del
NM_000108.5(DLD):c.104del (p.Tyr35fs)
NM_000108.5(DLD):c.1058T>C (p.Ile353Thr) rs2116271469
NM_000108.5(DLD):c.105C>A (p.Tyr35Ter)
NM_000108.5(DLD):c.105C>G (p.Tyr35Ter) rs747810875
NM_000108.5(DLD):c.105del (p.Thr34_Tyr35insTer) rs1554396895
NM_000108.5(DLD):c.1116_1117del (p.Ile372fs)
NM_000108.5(DLD):c.112C>T (p.Gln38Ter) rs1057516698
NM_000108.5(DLD):c.1139del (p.Gly380fs)
NM_000108.5(DLD):c.1158C>G (p.Tyr386Ter)
NM_000108.5(DLD):c.1178T>C (p.Ile393Thr) rs121964991
NM_000108.5(DLD):c.1182C>G (p.Tyr394Ter) rs757087726
NM_000108.5(DLD):c.1214C>A (p.Ser405Ter)
NM_000108.5(DLD):c.1232_1233del (p.Glu411fs)
NM_000108.5(DLD):c.1245_1249del (p.Tyr416fs) rs2116273912
NM_000108.5(DLD):c.12G>A (p.Trp4Ter) rs1562908173
NM_000108.5(DLD):c.1344_1347del (p.Asp448fs) rs1402761530
NM_000108.5(DLD):c.1396G>T (p.Glu466Ter) rs2116277809
NM_000108.5(DLD):c.140T>C (p.Ile47Thr) rs397514651
NM_000108.5(DLD):c.1416_1422del (p.Tyr473fs) rs1214130226
NM_000108.5(DLD):c.1436A>T (p.Asp479Val) rs397514649
NM_000108.5(DLD):c.1444A>G (p.Arg482Gly) rs397514650
NM_000108.5(DLD):c.1446_1447del (p.Arg482fs) rs1554400713
NM_000108.5(DLD):c.1464+1G>A
NM_000108.5(DLD):c.1483A>G (p.Arg495Gly) rs121964989
NM_000108.5(DLD):c.175A>T (p.Lys59Ter)
NM_000108.5(DLD):c.184C>T (p.Gln62Ter)
NM_000108.5(DLD):c.1A>C (p.Met1Leu)
NM_000108.5(DLD):c.214A>G (p.Lys72Glu) rs121964987
NM_000108.5(DLD):c.24C>G (p.Tyr8Ter) rs778122189
NM_000108.5(DLD):c.285_286del (p.His96fs)
NM_000108.5(DLD):c.308_310delinsT (p.Gly103fs) rs2031929480
NM_000108.5(DLD):c.362del (p.Asp121fs) rs2116219533
NM_000108.5(DLD):c.380del (p.Lys127fs)
NM_000108.5(DLD):c.3G>A (p.Met1Ile)
NM_000108.5(DLD):c.459T>G (p.Tyr153Ter) rs2116221384
NM_000108.5(DLD):c.529A>T (p.Lys177Ter)
NM_000108.5(DLD):c.633dup (p.Val212fs) rs1040811473
NM_000108.5(DLD):c.647del (p.Met216fs)
NM_000108.5(DLD):c.783del (p.Gln262fs) rs1562919685
NM_000108.5(DLD):c.813del (p.Lys271fs)
NM_000108.5(DLD):c.821dup (p.Leu274fs) rs751883130
NM_000108.5(DLD):c.82dup (p.Ser28fs)
NM_000108.5(DLD):c.854C>G (p.Ser285Ter)
NM_000108.5(DLD):c.987dup (p.Glu330Ter)
NM_000108.5(DLD):c.988G>T (p.Glu330Ter)
NM_000709.4(BCKDHA):c.1008_1015del (p.His336fs) rs1330793674
NM_000709.4(BCKDHA):c.1028C>G (p.Ser343Ter) rs774735002
NM_000709.4(BCKDHA):c.109-1G>A rs2123253583
NM_000709.4(BCKDHA):c.1110_1119del (p.Gln371fs) rs1599962569
NM_000709.4(BCKDHA):c.1119G>A (p.Trp373Ter) rs765543886
NM_000709.4(BCKDHA):c.1121G>A (p.Trp374Ter)
NM_000709.4(BCKDHA):c.1137del (p.Lys380fs)
NM_000709.4(BCKDHA):c.1167+1del rs1555767169
NM_000709.4(BCKDHA):c.1168-2A>G rs1555767285
NM_000709.4(BCKDHA):c.116_117dup (p.Arg40fs) rs398123489
NM_000709.4(BCKDHA):c.117del (p.Arg40fs) rs398123489
NM_000709.4(BCKDHA):c.117dup (p.Arg40fs) rs398123489
NM_000709.4(BCKDHA):c.1198A>T (p.Lys400Ter) rs863225262
NM_000709.4(BCKDHA):c.1226T>G (p.Phe409Cys) rs137852872
NM_000709.4(BCKDHA):c.1237dup (p.Tyr413fs)
NM_000709.4(BCKDHA):c.124C>T (p.Gln42Ter)
NM_000709.4(BCKDHA):c.1280_1282del (p.Leu427_Ala428delinsPro) rs755691417
NM_000709.4(BCKDHA):c.12_13insGACGGGCGAGGTGGCTCACGCCTGAAATCCCAGCACTATGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGANNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAGATGGCGGTAGCG (p.Ile5fs)
NM_000709.4(BCKDHA):c.1306G>T (p.Glu436Ter) rs1298823471
NM_000709.4(BCKDHA):c.1310_1311del (p.His437fs) rs398123492
NM_000709.4(BCKDHA):c.1312T>C (p.Tyr438His) rs137852870
NM_000709.4(BCKDHA):c.143del (p.Leu48fs) rs1555765593
NM_000709.4(BCKDHA):c.14del (p.Ile5fs) rs398123494
NM_000709.4(BCKDHA):c.253C>T (p.Gln85Ter)
NM_000709.4(BCKDHA):c.277G>T (p.Glu93Ter)
NM_000709.4(BCKDHA):c.318C>G (p.Tyr106Ter)
NM_000709.4(BCKDHA):c.319A>T (p.Lys107Ter)
NM_000709.4(BCKDHA):c.332T>C (p.Leu111Pro) rs1568503938
NM_000709.4(BCKDHA):c.33G>A (p.Trp11Ter) rs1207966026
NM_000709.4(BCKDHA):c.347A>G (p.Asp116Gly) rs398123498
NM_000709.4(BCKDHA):c.357_358del (p.Leu119_Tyr120insTer) rs2123254646
NM_000709.4(BCKDHA):c.367C>T (p.Gln123Ter) rs2039247540
NM_000709.4(BCKDHA):c.379C>T (p.Arg127Trp)
NM_000709.4(BCKDHA):c.399delinsAA (p.Asn134fs) rs1057519059
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.454G>A (p.Asp152Asn) rs2122122610
NM_000709.4(BCKDHA):c.470A>C (p.Gln157Pro) rs869312125
NM_000709.4(BCKDHA):c.482del (p.Ala161fs)
NM_000709.4(BCKDHA):c.507C>G (p.Tyr169Ter)
NM_000709.4(BCKDHA):c.511del (p.Leu171fs) rs762084007
NM_000709.4(BCKDHA):c.529C>T (p.Gln177Ter)
NM_000709.4(BCKDHA):c.554del (p.Leu185fs) rs1568506608
NM_000709.4(BCKDHA):c.55C>T (p.Gln19Ter)
NM_000709.4(BCKDHA):c.644_645del (p.Gln215fs)
NM_000709.4(BCKDHA):c.653G>C (p.Gly218Ala) rs2039372961
NM_000709.4(BCKDHA):c.655del (p.Ala219fs)
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.67del (p.Leu23fs)
NM_000709.4(BCKDHA):c.699_700del (p.Ile233fs)
NM_000709.4(BCKDHA):c.701_702del (p.Cys234fs) rs2122142979
NM_000709.4(BCKDHA):c.712G>T (p.Glu238Ter) rs1303770209
NM_000709.4(BCKDHA):c.718del (p.Ala240fs) rs1555766993
NM_000709.4(BCKDHA):c.740A>G (p.His247Arg) rs1468416468
NM_000709.4(BCKDHA):c.741dup (p.Ala248fs) rs398123504
NM_000709.4(BCKDHA):c.761C>A (p.Ala254Asp) rs373713279
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.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.835del (p.Tyr279fs)
NM_000709.4(BCKDHA):c.844G>C (p.Asp282His) rs869312124
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.905A>C (p.Asp302Ala) rs398123509
NM_000709.4(BCKDHA):c.909_910del (p.Phe304fs) rs398123510
NM_000709.4(BCKDHA):c.964C>T (p.Gln322Ter) rs398123513
NM_000709.4(BCKDHA):c.995+1G>A rs2039383036
NM_001190.4(BCAT2):c.1021G>A (p.Ala341Thr)
NM_001190.4(BCAT2):c.136_147del (p.His46_Pro49del)
NM_001190.4(BCAT2):c.509G>A (p.Arg170Gln) rs749866079
NM_001190.4(BCAT2):c.545T>G (p.Val182Gly)
NM_001190.4(BCAT2):c.600C>A (p.Tyr200Ter)
NM_001318975.1(BCKDHB):c.-70_-15+207del rs1554180622
NM_001352514.2(HLCS):c.1025dup (p.Tyr342Ter) rs1601803431
NM_001352514.2(HLCS):c.1045G>T (p.Glu349Ter) rs148324626
NM_001352514.2(HLCS):c.1063_1064del (p.Asp355fs)
NM_001352514.2(HLCS):c.1083T>A (p.Cys361Ter)
NM_001352514.2(HLCS):c.1091T>A (p.Leu364Ter)
NM_001352514.2(HLCS):c.1133del (p.Gln378fs)
NM_001352514.2(HLCS):c.1151T>C (p.Leu384Pro) rs119103227
NM_001352514.2(HLCS):c.1156C>T (p.Gln386Ter) rs2146525207
NM_001352514.2(HLCS):c.1210del (p.Gln403_Val404insTer)
NM_001352514.2(HLCS):c.1223del (p.Gly408fs) rs771944310
NM_001352514.2(HLCS):c.1418dup (p.Glu474fs) rs1555955827
NM_001352514.2(HLCS):c.1440_1443dup (p.Leu482fs)
NM_001352514.2(HLCS):c.1444_1456delinsATAGTGCAAACTCCAACATAGTGCAAACT (p.Leu482_Pro486delinsIleValGlnThrProThrTer)
NM_001352514.2(HLCS):c.1445dup (p.Leu482fs)
NM_001352514.2(HLCS):c.1471del (p.Val491fs)
NM_001352514.2(HLCS):c.1494dup (p.Leu500fs)
NM_001352514.2(HLCS):c.1496T>A (p.Leu499Ter) rs1601779091
NM_001352514.2(HLCS):c.1505C>G (p.Ser502Ter)
NM_001352514.2(HLCS):c.1537_1540del (p.Glu513fs)
NM_001352514.2(HLCS):c.1543del (p.Ile514_Leu515insTer) rs1288789420
NM_001352514.2(HLCS):c.1552del (p.Gly519fs) rs1569206815
NM_001352514.2(HLCS):c.1570dup (p.Met524fs)
NM_001352514.2(HLCS):c.1576C>T (p.Gln526Ter) rs1393866282
NM_001352514.2(HLCS):c.1599_1600del (p.Tyr534fs)
NM_001352514.2(HLCS):c.1600_1604del (p.Tyr534fs)
NM_001352514.2(HLCS):c.1627_1628del (p.Arg543fs) rs2146336516
NM_001352514.2(HLCS):c.1631del (p.Asp544fs)
NM_001352514.2(HLCS):c.1631dup (p.Asp544fs)
NM_001352514.2(HLCS):c.1634del (p.Pro545fs) rs2146336447
NM_001352514.2(HLCS):c.1646G>A (p.Trp549Ter) rs1342457304
NM_001352514.2(HLCS):c.1658_1659del (p.His553fs)
NM_001352514.2(HLCS):c.1698_1701del (p.Leu567fs) rs2065041493
NM_001352514.2(HLCS):c.1699_1700del (p.Ser566_Leu567insTer) rs1555930523
NM_001352514.2(HLCS):c.1769dup (p.Met590fs)
NM_001352514.2(HLCS):c.1799T>G (p.Leu600Ter)
NM_001352514.2(HLCS):c.1831C>T (p.Gln611Ter)
NM_001352514.2(HLCS):c.1869del (p.Thr624fs) rs2065031709
NM_001352514.2(HLCS):c.1910del (p.Pro637fs)
NM_001352514.2(HLCS):c.1980G>A (p.Trp660Ter)
NM_001352514.2(HLCS):c.2030del (p.Leu677fs)
NM_001352514.2(HLCS):c.2038C>T (p.Gln680Ter)
NM_001352514.2(HLCS):c.2041dup (p.Leu681fs)
NM_001352514.2(HLCS):c.2060_2081del (p.Phe687fs)
NM_001352514.2(HLCS):c.2089G>A (p.Val697Met) rs119103231
NM_001352514.2(HLCS):c.2128_2135delinsTAAAGGGTGA (p.Asn710_Arg712delinsTer)
NM_001352514.2(HLCS):c.2144G>A (p.Trp715Ter) rs1174060268
NM_001352514.2(HLCS):c.2176A>T (p.Lys726Ter)
NM_001352514.2(HLCS):c.2212_2213del (p.Gly738fs)
NM_001352514.2(HLCS):c.2224del (p.Tyr742fs)
NM_001352514.2(HLCS):c.2279T>C (p.Ile760Thr) rs2145731903
NM_001352514.2(HLCS):c.2301C>G (p.Tyr767Ter)
NM_001352514.2(HLCS):c.2308C>T (p.Gln770Ter)
NM_001352514.2(HLCS):c.2333T>G (p.Leu778Ter)
NM_001352514.2(HLCS):c.2369_2373del (p.Val790fs)
NM_001352514.2(HLCS):c.2379del (p.Lys793fs)
NM_001352514.2(HLCS):c.2398del (p.Asp800fs)
NM_001352514.2(HLCS):c.2439C>G (p.Tyr813Ter)
NM_001352514.2(HLCS):c.2458del (p.Gln820fs)
NM_001352514.2(HLCS):c.505C>T (p.Gln169Ter)
NM_001352514.2(HLCS):c.513dup (p.Thr172fs)
NM_001352514.2(HLCS):c.529A>T (p.Lys177Ter)
NM_001352514.2(HLCS):c.535C>T (p.Gln179Ter) rs2066942649
NM_001352514.2(HLCS):c.655G>T (p.Glu219Ter)
NM_001352514.2(HLCS):c.664C>T (p.Gln222Ter) rs1555957134
NM_001352514.2(HLCS):c.664_667del (p.Gln222fs) rs776431253
NM_001352514.2(HLCS):c.691G>T (p.Glu231Ter) rs1569218416
NM_001352514.2(HLCS):c.726dup (p.Val243fs)
NM_001352514.2(HLCS):c.727del (p.Val243fs) rs2146528200
NM_001352514.2(HLCS):c.763G>T (p.Glu255Ter) rs937407062
NM_001352514.2(HLCS):c.863del (p.Ser288fs) rs1015594025
NM_001352514.2(HLCS):c.958C>T (p.Gln320Ter)
NM_001352514.2(HLCS):c.958del (p.Gln320fs)
NM_001918.3(DBT):c.1282-4142_*(434_435)del
NM_001918.3(DBT):c.434_435insAATACCTTGTTACCAGA
NM_001918.3:c.48_171del
NM_001918.5(DBT):c.1017+1del rs796052134
NM_001918.5(DBT):c.1033G>A (p.Gly345Arg) rs869312132
NM_001918.5(DBT):c.1082dup (p.Asn361fs) rs1570806631
NM_001918.5(DBT):c.1087C>T (p.Gln363Ter)
NM_001918.5(DBT):c.1132C>T (p.Gln378Ter)
NM_001918.5(DBT):c.113_114del (p.Cys38fs) rs2100844690
NM_001918.5(DBT):c.1195T>G (p.Ser399Ala) rs1553229654
NM_001918.5(DBT):c.1195del (p.Ser399fs) rs2100779888
NM_001918.5(DBT):c.1209+1G>A rs1661795778
NM_001918.5(DBT):c.1232C>T (p.Pro411Leu) rs2100779419
NM_001918.5(DBT):c.1264dup (p.Ala422fs) rs1401829291
NM_001918.5(DBT):c.126T>G (p.Tyr42Ter) rs794727262
NM_001918.5(DBT):c.1281+1G>A
NM_001918.5(DBT):c.1281+2T>A rs2100779270
NM_001918.5(DBT):c.1292G>C (p.Arg431Pro) rs776490043
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.1355A>G (p.His452Arg) rs121965002
NM_001918.5(DBT):c.1382C>A (p.Ser461Ter) rs1553228626
NM_001918.5(DBT):c.1385G>C (p.Arg462Pro) rs750594890
NM_001918.5(DBT):c.143_146dup (p.His49fs) rs1384034981
NM_001918.5(DBT):c.1448G>T (p.Ter483Leu) rs121965000
NM_001918.5(DBT):c.17dup (p.Met6fs) rs2100772715
NM_001918.5(DBT):c.241_242del (p.Thr80_Val81insTer) rs2100834784
NM_001918.5(DBT):c.247del (p.Glu83fs)
NM_001918.5(DBT):c.260AAG[1] (p.Glu88del) rs1217050849
NM_001918.5(DBT):c.261del (p.Glu88fs) rs1570836175
NM_001918.5(DBT):c.272_275del (p.Thr91fs) rs398123666
NM_001918.5(DBT):c.280C>T (p.Gln94Ter)
NM_001918.5(DBT):c.294C>G (p.Ile98Met) rs121965001
NM_001918.5(DBT):c.29G>A (p.Trp10Ter) rs572340170
NM_001918.5(DBT):c.304C>T (p.Gln102Ter) rs2100827593
NM_001918.5(DBT):c.30G>A (p.Trp10Ter)
NM_001918.5(DBT):c.311A>G (p.Asp104Gly) rs1553232188
NM_001918.5(DBT):c.360del (p.Lys120fs) rs398123668
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.437C>A (p.Ser146Ter)
NM_001918.5(DBT):c.442G>T (p.Glu148Ter) rs1570820579
NM_001918.5(DBT):c.457del (p.Thr153fs)
NM_001918.5(DBT):c.480del (p.Glu160fs)
NM_001918.5(DBT):c.488_489del (p.His163fs) rs760861011
NM_001918.5(DBT):c.501_513del (p.Lys167fs)
NM_001918.5(DBT):c.51+1G>T rs398123669
NM_001918.5(DBT):c.516_522del (p.Ala173fs) rs2100804340
NM_001918.5(DBT):c.52-1G>C rs755914063
NM_001918.5(DBT):c.531_537del (p.Arg178fs) rs1372109444
NM_001918.5(DBT):c.555dup (p.Ile186fs)
NM_001918.5(DBT):c.581C>A (p.Ser194Ter)
NM_001918.5(DBT):c.581C>G (p.Ser194Ter) rs121965003
NM_001918.5(DBT):c.634C>T (p.Gln212Ter) rs1553230841
NM_001918.5(DBT):c.639del (p.Gly214fs)
NM_001918.5(DBT):c.650dup (p.Leu217fs)
NM_001918.5(DBT):c.663_670del (p.Lys222fs) rs748851630
NM_001918.5(DBT):c.713del (p.Pro238fs)
NM_001918.5(DBT):c.725C>G (p.Ser242Ter) rs201559874
NM_001918.5(DBT):c.762del (p.Glu254fs) rs2100799447
NM_001918.5(DBT):c.773-2A>G rs398123674
NM_001918.5(DBT):c.783del (p.Ala262fs)
NM_001918.5(DBT):c.788T>C (p.Met263Thr) rs1553230703
NM_001918.5(DBT):c.799_800del (p.Met267fs)
NM_001918.5(DBT):c.828del (p.Phe276fs)
NM_001918.5(DBT):c.872G>T (p.Arg291Leu) rs775808731
NM_001918.5(DBT):c.881T>A (p.Leu294Ter)
NM_001918.5(DBT):c.898del (p.Ala300fs) rs1570816218
NM_001918.5(DBT):c.910_919del (p.Lys304fs) rs2100797119
NM_001918.5(DBT):c.916T>C (p.Ser306Pro) rs2100797134
NM_001918.5(DBT):c.947_950del (p.Ser316fs)
NM_001918.5(DBT):c.961C>T (p.Gln321Ter) rs1662088383
NM_001918.5(DBT):c.961_962del (p.Gln321fs) rs2100788460
NM_005589.4(ALDH6A1):c.1336G>A (p.Gly446Arg) rs72552258
NM_005589.4(ALDH6A1):c.184C>T (p.Pro62Ser) rs796065046
NM_005589.4(ALDH6A1):c.514T>C (p.Tyr172His) rs869320672
NM_005589.4(ALDH6A1):c.785C>A (p.Ser262Tyr) rs879255579
NM_005881.4(BCKDK):c.222del (p.Met74fs) rs2057392733
NM_005881.4(BCKDK):c.264+1G>C
NM_005881.4(BCKDK):c.50_71del (p.Leu17fs) rs2143936992
NM_005881.4(BCKDK):c.671G>C (p.Arg224Pro) rs147210405
NM_014362.4(HIBCH):c.1000C>T (p.Gln334Ter)
NM_014362.4(HIBCH):c.1010_1011+3del
NM_014362.4(HIBCH):c.1012A>T (p.Arg338Ter) rs1364971527
NM_014362.4(HIBCH):c.1033G>A (p.Gly345Ser) rs770114459
NM_014362.4(HIBCH):c.1128dup (p.Lys377Ter) rs863225062
NM_014362.4(HIBCH):c.129dup (p.Gly44fs) rs767597690
NM_014362.4(HIBCH):c.386-1G>C rs1203170244
NM_014362.4(HIBCH):c.410C>T (p.Ala137Val) rs1114167288
NM_014362.4(HIBCH):c.439-2A>G rs1180861300
NM_014362.4(HIBCH):c.469C>T (p.Arg157Ter)
NM_014362.4(HIBCH):c.488G>T (p.Cys163Phe) rs74832989
NM_014362.4(HIBCH):c.609del (p.Gly204fs) rs776592661
NM_014362.4(HIBCH):c.835G>T (p.Glu279Ter) rs1686562488
NM_014362.4(HIBCH):c.852del (p.Leu284fs) rs1131692017
NM_014362.4(HIBCH):c.950G>A (p.Gly317Glu) rs786204004
NM_152542.5(PPM1K):c.1A>G (p.Met1Val)
NM_152542.5(PPM1K):c.417_418del (p.Thr140fs)
NM_183050.4(BCKDHB):c.1006G>A (p.Gly336Ser) rs398124560
NM_183050.4(BCKDHB):c.1007dup (p.Phe337fs)
NM_183050.4(BCKDHB):c.101del (p.Gly34fs)
NM_183050.4(BCKDHB):c.1022T>A (p.Ile341Asn) rs796051939
NM_183050.4(BCKDHB):c.1037A>G (p.Gln346Arg) rs2127965290
NM_183050.4(BCKDHB):c.1039-2A>G rs2128020522
NM_183050.4(BCKDHB):c.1039-7_1039-4del rs1562242135
NM_183050.4(BCKDHB):c.1042G>T (p.Glu348Ter)
NM_183050.4(BCKDHB):c.1046G>A (p.Cys349Tyr) rs398124562
NM_183050.4(BCKDHB):c.1065del (p.Pro356fs) rs869312129
NM_183050.4(BCKDHB):c.107dup (p.Leu36fs) rs1769085821
NM_183050.4(BCKDHB):c.1095_1096del (p.Pro366fs)
NM_183050.4(BCKDHB):c.1114G>T (p.Glu372Ter) rs386834234
NM_183050.4(BCKDHB):c.1149T>A (p.Tyr383Ter) rs190867671
NM_183050.4(BCKDHB):c.169C>T (p.Gln57Ter) rs1554181192
NM_183050.4(BCKDHB):c.195C>G (p.Tyr65Ter)
NM_183050.4(BCKDHB):c.196G>A (p.Gly66Arg) rs1328608014
NM_183050.4(BCKDHB):c.196G>C (p.Gly66Arg) rs1328608014
NM_183050.4(BCKDHB):c.196G>T (p.Gly66Trp) rs1328608014
NM_183050.4(BCKDHB):c.197-1G>C
NM_183050.4(BCKDHB):c.197-2A>C
NM_183050.4(BCKDHB):c.197-2A>G rs869312127
NM_183050.4(BCKDHB):c.1A>G (p.Met1Val) rs1005542482
NM_183050.4(BCKDHB):c.211del (p.Lys70_Met71insTer)
NM_183050.4(BCKDHB):c.21dup (p.Ala8fs) rs2127698713
NM_183050.4(BCKDHB):c.234_249del (p.Ser79fs) rs2127726128
NM_183050.4(BCKDHB):c.235del (p.Ser79fs)
NM_183050.4(BCKDHB):c.25_35dup (p.Arg13fs) rs2127698743
NM_183050.4(BCKDHB):c.272del (p.Ala91fs) rs2127726212
NM_183050.4(BCKDHB):c.274+1G>T
NM_183050.4(BCKDHB):c.275-2A>G rs1554184224
NM_183050.4(BCKDHB):c.281_291del (p.Phe94fs) rs1380402024
NM_183050.4(BCKDHB):c.293T>G (p.Val98Gly) rs869312126
NM_183050.4(BCKDHB):c.29_32del (p.Trp10fs)
NM_183050.4(BCKDHB):c.2T>C (p.Met1Thr) rs940391887
NM_183050.4(BCKDHB):c.322dup (p.Val108fs) rs2127727907
NM_183050.4(BCKDHB):c.329_330delinsAA (p.Leu110Ter) rs2127727924
NM_183050.4(BCKDHB):c.331C>T (p.Arg111Ter) rs371117671
NM_183050.4(BCKDHB):c.342T>G (p.Tyr114Ter) rs398124573
NM_183050.4(BCKDHB):c.343+1G>C rs1770503105
NM_183050.4(BCKDHB):c.343+2T>G rs1554184237
NM_183050.4(BCKDHB):c.348del (p.Asp117fs) rs1400121541
NM_183050.4(BCKDHB):c.352dup (p.Arg118fs)
NM_183050.4(BCKDHB):c.356T>G (p.Val119Gly) rs121965005
NM_183050.4(BCKDHB):c.368del (p.Pro123fs) rs1085307058
NM_183050.4(BCKDHB):c.392G>T (p.Gly131Val) rs774472182
NM_183050.4(BCKDHB):c.396del (p.Phe132fs) rs1562102740
NM_183050.4(BCKDHB):c.3G>A (p.Met1Ile) rs869312128
NM_183050.4(BCKDHB):c.401T>A (p.Ile134Asn) rs869312130
NM_183050.4(BCKDHB):c.403G>A (p.Gly135Arg) rs751953459
NM_183050.4(BCKDHB):c.408dup (p.Ala137fs)
NM_183050.4(BCKDHB):c.410C>A (p.Ala137Glu) rs776631396
NM_183050.4(BCKDHB):c.477+1G>A rs1002472211
NM_183050.4(BCKDHB):c.487G>T (p.Glu163Ter) rs1057516799
NM_183050.4(BCKDHB):c.496A>T (p.Lys166Ter) rs1772735425
NM_183050.4(BCKDHB):c.503G>A (p.Arg168His) rs749033513
NM_183050.4(BCKDHB):c.508C>T (p.Arg170Cys) rs398124581
NM_183050.4(BCKDHB):c.508_513del (p.Arg170_Ser171del)
NM_183050.4(BCKDHB):c.525del (p.Phe175fs)
NM_183050.4(BCKDHB):c.525dup (p.Asn176Ter) rs2127775550
NM_183050.4(BCKDHB):c.532G>T (p.Gly178Ter)
NM_183050.4(BCKDHB):c.547C>T (p.Arg183Trp) rs149766077
NM_183050.4(BCKDHB):c.550del (p.Ser184fs)
NM_183050.4(BCKDHB):c.57_64dup (p.His22fs) rs1410520713
NM_183050.4(BCKDHB):c.580C>T (p.Leu194Phe)
NM_183050.4(BCKDHB):c.583dup (p.Tyr195fs) rs1772747408
NM_183050.4(BCKDHB):c.585T>A (p.Tyr195Ter)
NM_183050.4(BCKDHB):c.592_593del (p.Gln198fs) rs398124586
NM_183050.4(BCKDHB):c.595_596del (p.Ser199_Pro200insTer) rs398124587
NM_183050.4(BCKDHB):c.612del (p.Phe204fs) rs1210649507
NM_183050.4(BCKDHB):c.616C>T (p.His206Tyr) rs121965004
NM_183050.4(BCKDHB):c.633+1G>T rs398124589
NM_183050.4(BCKDHB):c.658C>T (p.Gln220Ter) rs1772902148
NM_183050.4(BCKDHB):c.662_663del (p.Ala221fs)
NM_183050.4(BCKDHB):c.667G>T (p.Gly223Ter) rs1248040495
NM_183050.4(BCKDHB):c.68G>A (p.Trp23Ter)
NM_183050.4(BCKDHB):c.70_71insTTCCTGGCAGGGGCTGAGGA (p.Arg24delinsLeuProGlyArgGlyTer) rs1582146989
NM_183050.4(BCKDHB):c.714dup (p.Glu239Ter) rs1167005638
NM_183050.4(BCKDHB):c.721A>T (p.Lys241Ter)
NM_183050.4(BCKDHB):c.722_731dup (p.Tyr244Ter)
NM_183050.4(BCKDHB):c.730del (p.Tyr244fs) rs1057516572
NM_183050.4(BCKDHB):c.745G>T (p.Glu249Ter) rs1774361781
NM_183050.4(BCKDHB):c.748G>T (p.Glu250Ter) rs398124592
NM_183050.4(BCKDHB):c.756_759del (p.Ile253fs)
NM_183050.4(BCKDHB):c.75del (p.Leu26fs)
NM_183050.4(BCKDHB):c.803_806del (p.Glu268fs)
NM_183050.4(BCKDHB):c.811_824del (p.Asp271fs) rs1554194690
NM_183050.4(BCKDHB):c.817A>C (p.Thr273Pro) rs398124595
NM_183050.4(BCKDHB):c.818C>T (p.Thr273Ile)
NM_183050.4(BCKDHB):c.830G>A (p.Trp277Ter) rs1774369632
NM_183050.4(BCKDHB):c.840+2T>G rs398124596
NM_183050.4(BCKDHB):c.843dup (p.His282fs)
NM_183050.4(BCKDHB):c.880_881dup (p.Leu295fs)
NM_183050.4(BCKDHB):c.885del (p.Gly296fs) rs398124599
NM_183050.4(BCKDHB):c.907_910dup (p.Leu304fs)
NM_183050.4(BCKDHB):c.908dup (p.Asp303fs) rs1774478421
NM_183050.4(BCKDHB):c.932A>T (p.Asp311Val)
NM_183050.4(BCKDHB):c.93_103del (p.Ala32fs) rs398124601
NM_183050.4(BCKDHB):c.93_103dup (p.Phe35fs) rs398124601
NM_183050.4(BCKDHB):c.94del (p.Ala32fs) rs2127698980
NM_183050.4(BCKDHB):c.964A>G (p.Thr322Ala) rs869312131
NM_183050.4(BCKDHB):c.988G>A (p.Glu330Lys) rs1224101411
NM_183050.4(BCKDHB):c.988del (p.Glu330fs)
NM_183050.4(BCKDHB):c.995C>T (p.Pro332Leu) rs1554205541

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