ClinVar Miner

List of variants reported as uncertain significance for amino acid or protein metabolism disease with epilepsy

Included ClinVar conditions (24):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 1213
Download table as spreadsheet
HGVS dbSNP
NC_000001.10:g.(?_19199319)_(19204126_?)dup
NC_000002.12:g.(?_241735205)_(241767989_?)dup
NC_000009.11:g.(?_6587121)_(6645519_?)dup
NC_000009.11:g.(?_6620164)_(6645519_?)dup
NC_000009.11:g.(?_6620184)_(6720997_?)dup
NC_000009.12:g.(?_6532997)_(6540166_?)dup
NC_000010.11:g.123008921A>T
NC_000010.11:g.123009002G>T
NC_000012.12:g.56005531G>C
NC_000014.8:g.(?_67346637)_(67391029_?)dup
NC_000014.9:g.(?_65957717)_(66508591_?)dup
NC_000014.9:g.(?_66965171)_(67100931_?)dup
NC_000014.9:g.(?_67058629)_(67180957_?)dup
NC_000016.10:g.(?_81082846)_(81096298_?)del
NC_000019.10:g.39480831G>A rs1600735654
NC_000021.8:g.(?_44473450)_(44492323_?)dup
NC_000021.8:g.(?_44473970)_(44492323_?)dup
NC_000021.9:g.(?_43053340)_(43056907_?)del
NC_000021.9:g.(?_43053340)_(43076866_?)dup
NC_000022.10:g.(?_18900668)_(18923820_?)dup
NM_000049.3(ASPA):c.*246G>A rs769255741
NM_000049.3(ASPA):c.*27C>T rs151133430
NM_000049.3(ASPA):c.-105T>C rs886052822
NM_000049.3(ASPA):c.-152C>T rs886052821
NM_000049.3(ASPA):c.170C>T (p.Ala57Val) rs1555538148
NM_000049.3(ASPA):c.188G>C (p.Arg63Thr) rs1555538151
NM_000049.3(ASPA):c.237-2A>T rs780936696
NM_000049.3(ASPA):c.427A>G (p.Ile143Val) rs199565861
NM_000049.3(ASPA):c.427A>T (p.Ile143Phe) rs199565861
NM_000049.3(ASPA):c.428T>C (p.Ile143Thr) rs777936704
NM_000049.3(ASPA):c.432G>A (p.Lys144=) rs754087904
NM_000049.3(ASPA):c.509T>C (p.Ile170Thr) rs144321760
NM_000049.3(ASPA):c.539G>T (p.Gly180Val) rs1014551540
NM_000049.3(ASPA):c.542C>T (p.Pro181Leu) rs1335267315
NM_000049.3(ASPA):c.770C>G (p.Pro257Arg) rs377217076
NM_000049.3(ASPA):c.788T>C (p.Leu263Ser) rs755061005
NM_000049.3(ASPA):c.807G>A (p.Thr269=) rs759106494
NM_000049.3(ASPA):c.838C>T (p.Pro280Ser) rs750505963
NM_000049.3(ASPA):c.839C>T (p.Pro280Leu) rs1555541310
NM_000049.3(ASPA):c.89T>C (p.Leu30Pro) rs1555538144
NM_000049.3(ASPA):c.905C>T (p.Thr302Met) rs763869261
NM_000049.3(ASPA):c.906G>A (p.Thr302=) rs371394875
NM_000049.3(ASPA):c.935T>G (p.Leu312Ter) rs1555541343
NM_000049.4(ASPA):c.162C>A (p.Asn54Lys)
NM_000049.4(ASPA):c.437_449del (p.Ser146fs)
NM_000049.4(ASPA):c.530T>C (p.Ile177Thr) rs1597438977
NM_000049.4(ASPA):c.634+1G>T rs753871454
NM_000049.4(ASPA):c.731A>C (p.His244Pro)
NM_000049.4(ASPA):c.740T>C (p.Leu247Pro)
NM_000071.2(CBS):c.*18G>A rs200259659
NM_000071.2(CBS):c.*19G>A rs1555869794
NM_000071.2(CBS):c.*19G>C rs1555869794
NM_000071.2(CBS):c.*20T>C rs1555869789
NM_000071.2(CBS):c.*472C>T rs886057096
NM_000071.2(CBS):c.*592T>A rs866356348
NM_000071.2(CBS):c.-136C>T rs543595103
NM_000071.2(CBS):c.-85+10G>C rs886057102
NM_000071.2(CBS):c.-86_-85+13delinsTGAAGGGTACCGCGA rs1568943606
NM_000071.2(CBS):c.1039+3G>A rs747384273
NM_000071.2(CBS):c.1039+6T>G rs1601349690
NM_000071.2(CBS):c.1059G>A (p.Thr353=) rs61735859
NM_000071.2(CBS):c.1061_1069del (p.Val354_Val356del) rs863223436
NM_000071.2(CBS):c.1065G>A (p.Ala355=) rs748552493
NM_000071.2(CBS):c.1070C>G (p.Ala357Gly) rs863223437
NM_000071.2(CBS):c.1072G>A (p.Val358Met) rs148589243
NM_000071.2(CBS):c.1080_1081delinsTA (p.Ala361Thr) rs1555873407
NM_000071.2(CBS):c.1082C>T (p.Ala361Val) rs370851632
NM_000071.2(CBS):c.1105C>T (p.Arg369Cys) rs117687681
NM_000071.2(CBS):c.1106G>A (p.Arg369His) rs11700812
NM_000071.2(CBS):c.1114G>A (p.Val372Ile) rs775354680
NM_000071.2(CBS):c.1146-12C>T rs199550738
NM_000071.2(CBS):c.1148C>T (p.Thr383Ile) rs1568924550
NM_000071.2(CBS):c.1161C>T (p.Ser387=) rs149280976
NM_000071.2(CBS):c.1205T>C (p.Leu402Pro) rs371214833
NM_000071.2(CBS):c.1210_1212del (p.Glu404del) rs1555872822
NM_000071.2(CBS):c.1237C>T (p.Arg413Cys) rs767595472
NM_000071.2(CBS):c.1265C>T (p.Pro422Leu) rs28934892
NM_000071.2(CBS):c.1273G>A (p.Val425Met) rs138211175
NM_000071.2(CBS):c.1301C>A (p.Thr434Asn) rs1555872506
NM_000071.2(CBS):c.1304T>C (p.Ile435Thr) rs1282119406
NM_000071.2(CBS):c.1315C>T (p.Arg439Trp) rs780508029
NM_000071.2(CBS):c.1316G>A (p.Arg439Gln) rs756467921
NM_000071.2(CBS):c.1337C>T (p.Ala446Val) rs757347527
NM_000071.2(CBS):c.134G>A (p.Arg45Gln) rs759502207
NM_000071.2(CBS):c.1353G>C (p.Glu451Asp) rs367962613
NM_000071.2(CBS):c.1357G>T (p.Gly453Trp) rs886057099
NM_000071.2(CBS):c.1358G>A (p.Gly453Glu) rs886039146
NM_000071.2(CBS):c.1379C>T (p.Thr460Met) rs752596508
NM_000071.2(CBS):c.1397C>T (p.Ser466Leu) rs121964971
NM_000071.2(CBS):c.1411G>A (p.Gly471Arg) rs201098477
NM_000071.2(CBS):c.1425G>A (p.Pro475=) rs147885808
NM_000071.2(CBS):c.1451A>G (p.Tyr484Cys) rs1555871913
NM_000071.2(CBS):c.1451A>T (p.Tyr484Phe) rs1555871913
NM_000071.2(CBS):c.1453A>G (p.Lys485Glu) rs886057098
NM_000071.2(CBS):c.1479G>A (p.Thr493=) rs143225442
NM_000071.2(CBS):c.1484C>T (p.Thr495Met) rs772344567
NM_000071.2(CBS):c.1525G>A (p.Ala509Thr) rs1060500680
NM_000071.2(CBS):c.1551G>A (p.Gln517=) rs750311684
NM_000071.2(CBS):c.1553-1G>C rs1555869979
NM_000071.2(CBS):c.1553-2A>C rs760609383
NM_000071.2(CBS):c.155G>A (p.Cys52Tyr) rs779777933
NM_000071.2(CBS):c.1564G>A (p.Gly522Arg) rs201916339
NM_000071.2(CBS):c.1594G>A (p.Gly532Arg) rs748953468
NM_000071.2(CBS):c.1597G>T (p.Val533Leu) rs1568916218
NM_000071.2(CBS):c.1616T>C (p.Leu539Ser) rs121964968
NM_000071.2(CBS):c.162G>A (p.Trp54Ter) rs199948079
NM_000071.2(CBS):c.1656A>C (p.Ter552Cys) rs1365095601
NM_000071.2(CBS):c.209+5G>C rs1555876750
NM_000071.2(CBS):c.209C>T (p.Pro70Leu) rs2229413
NM_000071.2(CBS):c.215A>T (p.Lys72Ile) rs192232907
NM_000071.2(CBS):c.284T>C (p.Ile95Thr) rs1347662650
NM_000071.2(CBS):c.296T>A (p.Phe99Tyr) rs112029370
NM_000071.2(CBS):c.297C>G (p.Phe99Leu) rs749697783
NM_000071.2(CBS):c.301C>G (p.Leu101Val) rs369644531
NM_000071.2(CBS):c.313C>G (p.Leu105Val) rs1601375543
NM_000071.2(CBS):c.316+5G>C rs1601375508
NM_000071.2(CBS):c.34C>T (p.Pro12Ser) rs558259739
NM_000071.2(CBS):c.352G>A (p.Val118Met) rs763385546
NM_000071.2(CBS):c.369C>A (p.Ser123Arg) rs1555875387
NM_000071.2(CBS):c.393G>C (p.Glu131Asp) rs1555875351
NM_000071.2(CBS):c.394C>T (p.Arg132Cys) rs140002610
NM_000071.2(CBS):c.395G>A (p.Arg132His) rs779011920
NM_000071.2(CBS):c.400G>A (p.Gly134Arg) rs147474549
NM_000071.2(CBS):c.400G>C (p.Gly134Arg) rs147474549
NM_000071.2(CBS):c.404C>T (p.Thr135Met) rs144832032
NM_000071.2(CBS):c.422C>T (p.Thr141Met) rs771178320
NM_000071.2(CBS):c.430G>C (p.Glu144Gln) rs121964966
NM_000071.2(CBS):c.451G>T (p.Gly151Trp) rs373782713
NM_000071.2(CBS):c.457G>A (p.Gly153Arg) rs745704046
NM_000071.2(CBS):c.469G>A (p.Ala157Thr) rs199817801
NM_000071.2(CBS):c.493T>G (p.Cys165Gly) rs1234354755
NM_000071.2(CBS):c.502G>A (p.Val168Met) rs121964970
NM_000071.2(CBS):c.532G>A (p.Val178Met) rs370843514
NM_000071.2(CBS):c.538G>A (p.Val180Met) rs759402521
NM_000071.2(CBS):c.539T>C (p.Val180Ala) rs1555875010
NM_000071.2(CBS):c.545G>A (p.Arg182Gln) rs138314784
NM_000071.2(CBS):c.548C>T (p.Ala183Val) rs374464810
NM_000071.2(CBS):c.588G>C (p.Arg196Ser) rs555751528
NM_000071.2(CBS):c.599C>T (p.Pro200Leu) rs758712880
NM_000071.2(CBS):c.600G>A (p.Pro200=) rs181472622
NM_000071.2(CBS):c.612G>T (p.Val204=) rs539670390
NM_000071.2(CBS):c.616G>A (p.Val206Met) rs369220569
NM_000071.2(CBS):c.622T>C (p.Trp208Arg) rs1060500683
NM_000071.2(CBS):c.650C>T (p.Ser217Phe) rs1555874874
NM_000071.2(CBS):c.65A>G (p.His22Arg) rs763151207
NM_000071.2(CBS):c.664C>T (p.Gln222Ter) rs1568932262
NM_000071.2(CBS):c.670C>T (p.Arg224Cys) rs139456571
NM_000071.2(CBS):c.683A>G (p.Asn228Ser) rs1555874803
NM_000071.2(CBS):c.68C>T (p.Ser23Leu) rs775785018
NM_000071.2(CBS):c.710C>T (p.Ala237Val) rs1568931765
NM_000071.2(CBS):c.745G>A (p.Asp249Asn) rs767397847
NM_000071.2(CBS):c.749T>A (p.Met250Lys) rs1555874564
NM_000071.2(CBS):c.750G>A (p.Met250Ile) rs863223431
NM_000071.2(CBS):c.752T>C (p.Leu251Pro) rs1176770868
NM_000071.2(CBS):c.766G>A (p.Gly256Ser) rs1000697114
NM_000071.2(CBS):c.770C>T (p.Thr257Met) rs758236584
NM_000071.2(CBS):c.775G>A (p.Gly259Ser) rs143124288
NM_000071.2(CBS):c.786G>A (p.Thr262=) rs551782391
NM_000071.2(CBS):c.791T>C (p.Ile264Thr) rs760212248
NM_000071.2(CBS):c.825C>T (p.Cys275=) rs764638041
NM_000071.2(CBS):c.829-11G>T rs371619788
NM_000071.2(CBS):c.829-13G>A rs201106576
NM_000071.2(CBS):c.840G>A (p.Val280=) rs1060500682
NM_000071.2(CBS):c.847G>A (p.Glu283Lys) rs765811825
NM_000071.2(CBS):c.856A>G (p.Ile286Val) rs147040567
NM_000071.2(CBS):c.857T>C (p.Ile286Thr) rs1060500681
NM_000071.2(CBS):c.862G>A (p.Ala288Thr) rs141502207
NM_000071.2(CBS):c.866A>G (p.Glu289Gly) rs1601352415
NM_000071.2(CBS):c.887C>T (p.Thr296Met) rs562530775
NM_000071.2(CBS):c.888G>A (p.Thr296=) rs769593715
NM_000071.2(CBS):c.894G>A (p.Gln298=) rs370514077
NM_000071.2(CBS):c.924C>T (p.Tyr308=) rs149809170
NM_000071.2(CBS):c.925G>A (p.Asp309Asn) rs540013184
NM_000071.2(CBS):c.953C>T (p.Thr318Met) rs769541394
NM_000071.2(CBS):c.954+5G>T rs1568928886
NM_000071.2(CBS):c.982G>A (p.Asp328Asn) rs758447354
NM_000071.3(CBS):c.*132G>C
NM_000071.3(CBS):c.*140G>A
NM_000071.3(CBS):c.*286A>G
NM_000071.3(CBS):c.*296T>C
NM_000071.3(CBS):c.*305T>C
NM_000071.3(CBS):c.*394C>T
NM_000071.3(CBS):c.*409G>A
NM_000071.3(CBS):c.*409G>T
NM_000071.3(CBS):c.*540G>A rs111386779
NM_000071.3(CBS):c.*80C>T
NM_000071.3(CBS):c.-81C>T
NM_000071.3(CBS):c.1017C>T (p.Ile339=)
NM_000071.3(CBS):c.1019C>T (p.Ala340Val)
NM_000071.3(CBS):c.1146-6C>T
NM_000071.3(CBS):c.1325G>A (p.Gly442Asp)
NM_000071.3(CBS):c.1367T>C (p.Leu456Pro)
NM_000071.3(CBS):c.1468-6T>G
NM_000071.3(CBS):c.1576C>A (p.Gln526Lys)
NM_000071.3(CBS):c.1634C>T (p.Ala545Val)
NM_000071.3(CBS):c.349A>T (p.Ser117Cys)
NM_000071.3(CBS):c.698_699inv (p.Tyr233Cys)
NM_000071.3(CBS):c.887C>G (p.Thr296Arg)
NM_000071.3(CBS):c.921C>G (p.Gly307=)
NM_000071.3(CBS):c.954G>A (p.Thr318=)
NM_000166.6(GJB1):c.425G>A (p.Arg142Gln) rs786204123
NM_000170.2(GLDC):c.*115A>T rs148273307
NM_000170.2(GLDC):c.*188C>T rs577665662
NM_000170.2(GLDC):c.*235T>G rs749941145
NM_000170.2(GLDC):c.*505_*506del rs3215922
NM_000170.2(GLDC):c.*546C>T rs768890473
NM_000170.2(GLDC):c.*5C>G rs764814250
NM_000170.2(GLDC):c.-168G>A rs891076552
NM_000170.2(GLDC):c.-173T>G rs1039584725
NM_000170.2(GLDC):c.-21C>T rs1057515609
NM_000170.2(GLDC):c.1000T>C (p.Phe334Leu) rs149133229
NM_000170.2(GLDC):c.1010G>A (p.Arg337Gln) rs138129131
NM_000170.2(GLDC):c.1033C>A (p.Pro345Thr) rs373263202
NM_000170.2(GLDC):c.106G>C (p.Asp36His) rs573883784
NM_000170.2(GLDC):c.1084C>T (p.Arg362Cys) rs10975674
NM_000170.2(GLDC):c.110G>A (p.Ser37Asn) rs763471932
NM_000170.2(GLDC):c.1117C>T (p.Arg373Trp) rs150171524
NM_000170.2(GLDC):c.1156-7C>G rs150095531
NM_000170.2(GLDC):c.1183T>C (p.Phe395Leu) rs767200188
NM_000170.2(GLDC):c.1229G>A (p.Arg410Lys) rs144090917
NM_000170.2(GLDC):c.1264C>A (p.Leu422Ile) rs1554647026
NM_000170.2(GLDC):c.1319T>C (p.Ile440Thr) rs386833523
NM_000170.2(GLDC):c.1357G>T (p.Ala453Ser) rs1057515607
NM_000170.2(GLDC):c.1381C>T (p.Arg461Trp) rs761957837
NM_000170.2(GLDC):c.1424C>T (p.Thr475Ile) rs750883330
NM_000170.2(GLDC):c.142G>T (p.Gly48Trp) rs1057515608
NM_000170.2(GLDC):c.1433A>C (p.Glu478Ala) rs751588571
NM_000170.2(GLDC):c.1453T>C (p.Leu485=) rs760562478
NM_000170.2(GLDC):c.1483-15G>C rs371777070
NM_000170.2(GLDC):c.1483G>C (p.Glu495Gln) rs1554646734
NM_000170.2(GLDC):c.1484_1489del6 rs778109389
NM_000170.2(GLDC):c.150G>A (p.Ser50=) rs768354829
NM_000170.2(GLDC):c.1517G>C (p.Arg506Thr) rs754119942
NM_000170.2(GLDC):c.1525C>G (p.Pro509Ala) rs557412758
NM_000170.2(GLDC):c.1545G>A (p.Arg515=) rs121964976
NM_000170.2(GLDC):c.1553C>A (p.Pro518Gln) rs761064507
NM_000170.2(GLDC):c.1553C>G (p.Pro518Arg) rs761064507
NM_000170.2(GLDC):c.156_167del (p.Glu54_Leu57del) rs1554652793
NM_000170.2(GLDC):c.1570G>C (p.Val524Leu) rs751362463
NM_000170.2(GLDC):c.1580+5G>T rs764790596
NM_000170.2(GLDC):c.1580G>C (p.Ser527Thr) rs1247180998
NM_000170.2(GLDC):c.1606C>T (p.Arg536Trp) rs1286882965
NM_000170.2(GLDC):c.160_171del (p.Glu54_Leu57del) rs1554652791
NM_000170.2(GLDC):c.1626A>G (p.Glu542=) rs779537709
NM_000170.2(GLDC):c.1640C>G (p.Ser547Cys) rs1320151906
NM_000170.2(GLDC):c.1664T>G (p.Leu555Arg) rs765384489
NM_000170.2(GLDC):c.1665+7A>T rs759573888
NM_000170.2(GLDC):c.1676C>A (p.Thr559Asn) rs1554646634
NM_000170.2(GLDC):c.1679T>C (p.Met560Thr) rs1366947118
NM_000170.2(GLDC):c.1707+5G>C rs1587947174
NM_000170.2(GLDC):c.1722A>C (p.Lys574Asn) rs1554646530
NM_000170.2(GLDC):c.1738C>G (p.His580Asp) rs1164241828
NM_000170.2(GLDC):c.1762G>C (p.Ala588Pro) rs780654157
NM_000170.2(GLDC):c.176G>A (p.Arg59Lys) rs386833530
NM_000170.2(GLDC):c.1819G>A (p.Gly607Ser) rs1554646517
NM_000170.2(GLDC):c.181_183GAC[1] (p.Asp62del) rs1554652789
NM_000170.2(GLDC):c.1853G>A (p.Gly618Glu) rs1563839743
NM_000170.2(GLDC):c.190G>T (p.Ala64Ser) rs141601131
NM_000170.2(GLDC):c.1925C>T (p.Thr642Met) rs141153261
NM_000170.2(GLDC):c.1926+3G>T rs1563839674
NM_000170.2(GLDC):c.1926+5G>A rs1554644678
NM_000170.2(GLDC):c.1926G>A (p.Thr642=) rs772101467
NM_000170.2(GLDC):c.1927-4G>A rs576723612
NM_000170.2(GLDC):c.1931G>A (p.Cys644Tyr) rs386833535
NM_000170.2(GLDC):c.1940C>T (p.Pro647Leu) rs201135624
NM_000170.2(GLDC):c.1970G>A (p.Ser657Asn) rs1301895668
NM_000170.2(GLDC):c.197_198delinsAA (p.Arg66Lys) rs1554652780
NM_000170.2(GLDC):c.2033_2035del (p.Ala678del) rs769625871
NM_000170.2(GLDC):c.2113G>A (p.Val705Met) rs147275962
NM_000170.2(GLDC):c.2124_2126dup (p.Asn709_Ile710insLys) rs1554643929
NM_000170.2(GLDC):c.2137G>A (p.Val713Met) rs912659426
NM_000170.2(GLDC):c.2147T>A (p.Leu716His) rs145018304
NM_000170.2(GLDC):c.2149A>G (p.Ile717Val) rs117460214
NM_000170.2(GLDC):c.2161G>A (p.Gly721Arg) rs1587924821
NM_000170.2(GLDC):c.2230G>A (p.Gly744Arg) rs370061961
NM_000170.2(GLDC):c.2238T>A (p.Asp746Glu) rs749882600
NM_000170.2(GLDC):c.2240T>A (p.Val747Asp) rs1563835004
NM_000170.2(GLDC):c.2297G>T (p.Gly766Val) rs750384225
NM_000170.2(GLDC):c.2305C>A (p.Pro769Thr) rs751114163
NM_000170.2(GLDC):c.2310C>A (p.Ile770=) rs765661419
NM_000170.2(GLDC):c.2332C>G (p.Pro778Ala) rs1476838990
NM_000170.2(GLDC):c.2333C>G (p.Pro778Arg) rs754670348
NM_000170.2(GLDC):c.2333C>T (p.Pro778Leu) rs754670348
NM_000170.2(GLDC):c.234G>C (p.Met78Ile) rs1282813808
NM_000170.2(GLDC):c.2368C>T (p.Arg790Trp) rs386833556
NM_000170.2(GLDC):c.2383T>A (p.Cys795Ser) rs567167527
NM_000170.2(GLDC):c.2446G>A (p.Ala816Thr) rs775834004
NM_000170.2(GLDC):c.2458A>G (p.Met820Val) rs781682244
NM_000170.2(GLDC):c.245T>C (p.Leu82Ser) rs386833559
NM_000170.2(GLDC):c.2487C>T (p.Ala829=) rs141806715
NM_000170.2(GLDC):c.2518A>G (p.Met840Val) rs781693346
NM_000170.2(GLDC):c.2519T>A (p.Met840Lys) rs386833561
NM_000170.2(GLDC):c.2521G>C (p.Ala841Pro) rs386833562
NM_000170.2(GLDC):c.2537C>T (p.Thr846Ile) rs747336541
NM_000170.2(GLDC):c.2545A>G (p.Arg849Gly) rs778000679
NM_000170.2(GLDC):c.2564C>T (p.Ala855Val) rs764251972
NM_000170.2(GLDC):c.2570G>A (p.Gly857Asp) rs1455180063
NM_000170.2(GLDC):c.2578G>C (p.Gly860Arg) rs753759723
NM_000170.2(GLDC):c.2593T>A (p.Leu865Met) rs375375700
NM_000170.2(GLDC):c.2612A>G (p.Lys871Arg) rs766244892
NM_000170.2(GLDC):c.262G>A (p.Asp88Asn) rs770826242
NM_000170.2(GLDC):c.2631_2639del (p.Glu877_Val879del) rs1554642294
NM_000170.2(GLDC):c.2650A>G (p.Arg884Gly) rs1057515606
NM_000170.2(GLDC):c.2684T>C (p.Met895Thr) rs769606225
NM_000170.2(GLDC):c.270G>C (p.Leu90Phe) rs747736821
NM_000170.2(GLDC):c.2729C>T (p.Ser910Leu) rs759933539
NM_000170.2(GLDC):c.2730G>A (p.Ser910=) rs144937031
NM_000170.2(GLDC):c.2798T>A (p.Ile933Asn) rs758029533
NM_000170.2(GLDC):c.2798T>C (p.Ile933Thr) rs758029533
NM_000170.2(GLDC):c.2818C>T (p.Pro940Ser) rs559923220
NM_000170.2(GLDC):c.2841G>A (p.Met947Ile) rs1214310966
NM_000170.2(GLDC):c.2852C>A (p.Ser951Tyr) rs147472391
NM_000170.2(GLDC):c.2919C>T (p.Leu973=) rs113736090
NM_000170.2(GLDC):c.2926G>A (p.Val976Met) rs150624881
NM_000170.2(GLDC):c.2936A>C (p.Glu979Ala) rs550514750
NM_000170.2(GLDC):c.2938A>G (p.Asn980Asp) rs772574530
NM_000170.2(GLDC):c.2947T>C (p.Trp983Arg) rs1057515605
NM_000170.2(GLDC):c.2948G>A (p.Trp983Ter) rs1554641519
NM_000170.2(GLDC):c.2955G>A (p.Thr985=) rs142004524
NM_000170.2(GLDC):c.2962C>T (p.Arg988Trp) rs1288008254
NM_000170.2(GLDC):c.2963G>A (p.Arg988Gln) rs749512886
NM_000170.2(GLDC):c.2964G>A (p.Arg988=) rs146045718
NM_000170.2(GLDC):c.2983G>A (p.Asp995Asn) rs1554641505
NM_000170.2(GLDC):c.2983G>T (p.Asp995Tyr) rs1554641505
NM_000170.2(GLDC):c.2986C>T (p.Gln996Ter) rs1296191006
NM_000170.2(GLDC):c.2988G>C (p.Gln996His) rs138640017
NM_000170.2(GLDC):c.2991C>A (p.His997Gln) rs757398632
NM_000170.2(GLDC):c.3040G>T (p.Glu1014Ter) rs1444245039
NM_000170.2(GLDC):c.329C>A (p.Pro110His) rs371491621
NM_000170.2(GLDC):c.422G>A (p.Cys141Tyr) rs1563864774
NM_000170.2(GLDC):c.439_441dup (p.Ile147dup) rs1157234920
NM_000170.2(GLDC):c.498T>C (p.Pro166=) rs150193069
NM_000170.2(GLDC):c.4C>A (p.Gln2Lys) rs1554652870
NM_000170.2(GLDC):c.544A>G (p.Met182Val) rs541691467
NM_000170.2(GLDC):c.578A>G (p.Asn193Ser) rs555919940
NM_000170.2(GLDC):c.589C>G (p.Leu197Val) rs1461615694
NM_000170.2(GLDC):c.637C>A (p.His213Asn) rs1210682949
NM_000170.2(GLDC):c.639_641CAA[1] (p.Asn214del) rs1222749984
NM_000170.2(GLDC):c.63C>A (p.Arg21=) rs372141443
NM_000170.2(GLDC):c.646A>G (p.Arg216Gly) rs140411475
NM_000170.2(GLDC):c.698T>C (p.Val233Ala) rs140013612
NM_000170.2(GLDC):c.701A>G (p.Gln234Arg) rs776639131
NM_000170.2(GLDC):c.71G>A (p.Gly24Glu) rs967983950
NM_000170.2(GLDC):c.790T>C (p.Phe264Leu) rs1038444873
NM_000170.2(GLDC):c.799C>G (p.Pro267Ala) rs1554648117
NM_000170.2(GLDC):c.800C>T (p.Pro267Leu) rs138484426
NM_000170.2(GLDC):c.811G>A (p.Gly271Arg) rs1554648113
NM_000170.2(GLDC):c.851A>C (p.His284Pro) rs1210767970
NM_000170.2(GLDC):c.861+5G>C rs192663616
NM_000170.2(GLDC):c.862-10T>A rs1264036061
NM_000170.2(GLDC):c.886C>T (p.Leu296Phe) rs200413149
NM_000170.2(GLDC):c.913C>A (p.Pro305Thr) rs370964168
NM_000170.3(GLDC):c.*345G>T
NM_000170.3(GLDC):c.*378G>T
NM_000170.3(GLDC):c.*410G>A
NM_000170.3(GLDC):c.*496T>G
NM_000170.3(GLDC):c.1041A>C (p.Arg347Ser)
NM_000170.3(GLDC):c.1075G>A (p.Glu359Lys)
NM_000170.3(GLDC):c.1261+3G>A
NM_000170.3(GLDC):c.1402-14T>G
NM_000170.3(GLDC):c.1430A>G (p.Asn477Ser)
NM_000170.3(GLDC):c.1530G>A (p.Gly510=)
NM_000170.3(GLDC):c.1554G>C (p.Pro518=) rs377219563
NM_000170.3(GLDC):c.1817C>T (p.Thr606Ile)
NM_000170.3(GLDC):c.1830G>A (p.Gln610=)
NM_000170.3(GLDC):c.183C>G (p.Asp61Glu)
NM_000170.3(GLDC):c.1926+6T>C rs200007891
NM_000170.3(GLDC):c.2028C>T (p.Ile676=)
NM_000170.3(GLDC):c.2060A>T (p.Lys687Met)
NM_000170.3(GLDC):c.209C>A (p.Pro70His)
NM_000170.3(GLDC):c.20C>T (p.Ala7Val)
NM_000170.3(GLDC):c.2145C>T (p.Asp715=)
NM_000170.3(GLDC):c.2148C>T (p.Leu716=)
NM_000170.3(GLDC):c.2166A>G (p.Gly722=)
NM_000170.3(GLDC):c.2202+6A>G
NM_000170.3(GLDC):c.2328C>T (p.Leu776=) rs149600380
NM_000170.3(GLDC):c.2335T>C (p.Phe779Leu)
NM_000170.3(GLDC):c.2402G>A (p.Ser801Asn)
NM_000170.3(GLDC):c.2561G>A (p.Gly854Asp)
NM_000170.3(GLDC):c.2570-10T>C
NM_000170.3(GLDC):c.2697G>A (p.Val899=)
NM_000170.3(GLDC):c.2742A>T (p.Ala914=)
NM_000170.3(GLDC):c.2874C>T (p.Ser958=) rs146339375
NM_000170.3(GLDC):c.2901G>C (p.Glu967Asp) rs1587908683
NM_000170.3(GLDC):c.2925C>T (p.Phe975=)
NM_000170.3(GLDC):c.2991C>G (p.His997Gln)
NM_000170.3(GLDC):c.700C>G (p.Gln234Glu)
NM_000170.3(GLDC):c.78G>C (p.Ser26=) rs915226152
NM_000170.3(GLDC):c.861+11C>G
NM_000170.3(GLDC):c.861+5G>A
NM_000170.3(GLDC):c.886C>A (p.Leu296Ile)
NM_000170.3(GLDC):c.94C>T (p.Pro32Ser)
NM_000170.3(GLDC):c.961G>C (p.Gly321Arg)
NM_000170.3(GLDC):c.96G>T (p.Pro32=) rs1430526811
NM_000277.2(PAH):c.206_211dup (p.Ser70_Arg71insProSer) rs281865431
NM_000277.3(PAH):c.*144A>G rs375319584
NM_000277.3(PAH):c.*19G>T rs372637021
NM_000277.3(PAH):c.*272C>T
NM_000277.3(PAH):c.*42A>G
NM_000277.3(PAH):c.*650A>G
NM_000277.3(PAH):c.*699C>T
NM_000277.3(PAH):c.*735T>C rs185081299
NM_000277.3(PAH):c.*772_*775del rs551502562
NM_000277.3(PAH):c.*79G>A rs569495604
NM_000277.3(PAH):c.-104C>T
NM_000277.3(PAH):c.-66_-65del rs997821067
NM_000277.3(PAH):c.-73C>G rs886048891
NM_000277.3(PAH):c.1002C>T (p.Cys334=) rs140243918
NM_000277.3(PAH):c.1031G>T (p.Gly344Val) rs62508582
NM_000277.3(PAH):c.1033G>A (p.Ala345Thr) rs62516062
NM_000277.3(PAH):c.1037G>A (p.Gly346Glu) rs1555203737
NM_000277.3(PAH):c.1065+39G>T rs62510582
NM_000277.3(PAH):c.1066-12del
NM_000277.3(PAH):c.1066-9G>A
NM_000277.3(PAH):c.1066T>G (p.Tyr356Asp)
NM_000277.3(PAH):c.1069T>C (p.Cys357Arg) rs62508595
NM_000277.3(PAH):c.1074A>T (p.Leu358Phe) rs376480977
NM_000277.3(PAH):c.1089G>C (p.Lys363Asn) rs63329263
NM_000277.3(PAH):c.1089G>T (p.Lys363Asn) rs63329263
NM_000277.3(PAH):c.1099C>G (p.Leu367Val) rs1565842281
NM_000277.3(PAH):c.1100T>C (p.Leu367Pro) rs62508574
NM_000277.3(PAH):c.1100T>G (p.Leu367Arg) rs62508574
NM_000277.3(PAH):c.1144T>C (p.Phe382Leu) rs1555203681
NM_000277.3(PAH):c.1150C>T (p.Pro384Ser) rs1555203677
NM_000277.3(PAH):c.1161C>T (p.Tyr387=) rs149595475
NM_000277.3(PAH):c.1198A>C (p.Arg400=) rs199475593
NM_000277.3(PAH):c.1218A>G (p.Ile406Met) rs773526027
NM_000277.3(PAH):c.1229T>C (p.Phe410Ser) rs62644475
NM_000277.3(PAH):c.122T>C (p.Leu41Pro) rs62642916
NM_000277.3(PAH):c.1240T>C (p.Tyr414His) rs281865437
NM_000277.3(PAH):c.1247C>A (p.Pro416Gln) rs1445893088
NM_000277.3(PAH):c.124_126del (p.Lys42del) rs1555209578
NM_000277.3(PAH):c.125_127AAG[2] (p.Glu44del) rs199475628
NM_000277.3(PAH):c.1262T>G (p.Ile421Ser) rs199475696
NM_000277.3(PAH):c.1271T>C (p.Leu424Ser) rs199475670
NM_000277.3(PAH):c.1285C>A (p.Gln429Lys) rs764974157
NM_000277.3(PAH):c.1304A>T (p.Asp435Val) rs1592945394
NM_000277.3(PAH):c.1315+5G>C
NM_000277.3(PAH):c.1330C>T (p.Leu444Phe) rs1402168594
NM_000277.3(PAH):c.134T>C (p.Val45Ala) rs1592988883
NM_000277.3(PAH):c.1352_1356TAAAG[1] (p.Ter453ProextTer?) rs794727086
NM_000277.3(PAH):c.157C>T (p.Arg53Cys) rs199475619
NM_000277.3(PAH):c.158G>A (p.Arg53His) rs118092776
NM_000277.3(PAH):c.161T>C (p.Leu54Ser) rs199475677
NM_000277.3(PAH):c.168+5G>T rs62507288
NM_000277.3(PAH):c.168+6T>G rs62516144
NM_000277.3(PAH):c.168G>A (p.Glu56=) rs199475567
NM_000277.3(PAH):c.169G>A (p.Glu57Lys) rs140945592
NM_000277.3(PAH):c.176A>G (p.Asp59Gly) rs199475672
NM_000277.3(PAH):c.176A>T (p.Asp59Val) rs199475672
NM_000277.3(PAH):c.184C>G (p.Leu62Val) rs1565866640
NM_000277.3(PAH):c.187A>C (p.Thr63Pro) rs199475568
NM_000277.3(PAH):c.190C>A (p.His64Asn) rs199475569
NM_000277.3(PAH):c.212G>A (p.Arg71His) rs62508695
NM_000277.3(PAH):c.232G>C (p.Glu78Gln)
NM_000277.3(PAH):c.233A>T (p.Glu78Val)
NM_000277.3(PAH):c.23A>C (p.Asn8Thr)
NM_000277.3(PAH):c.280A>G (p.Ile94Val)
NM_000277.3(PAH):c.281T>G (p.Ile94Ser) rs62508677
NM_000277.3(PAH):c.284_285delinsCA (p.Ile95Thr) rs281865432
NM_000277.3(PAH):c.289A>C (p.Ile97Leu) rs142516271
NM_000277.3(PAH):c.293T>C (p.Leu98Ser) rs62517167
NM_000277.3(PAH):c.299A>G (p.His100Arg) rs148393887
NM_000277.3(PAH):c.301G>A (p.Asp101Asn) rs1555207979
NM_000277.3(PAH):c.307G>A (p.Gly103Ser) rs752792040
NM_000277.3(PAH):c.307G>T (p.Gly103Cys) rs752792040
NM_000277.3(PAH):c.30C>G (p.Gly10=) rs1801145
NM_000277.3(PAH):c.310_318del (p.Ala104_Val106del) rs398123291
NM_000277.3(PAH):c.339_341GAA[1] (p.Lys115del) rs1555207969
NM_000277.3(PAH):c.350C>T (p.Thr117Ile) rs281865439
NM_000277.3(PAH):c.353-7_353-5dup rs1452763334
NM_000277.3(PAH):c.355C>T (p.Pro119Ser) rs398123292
NM_000277.3(PAH):c.361T>G (p.Phe121Val)
NM_000277.3(PAH):c.362T>C (p.Phe121Ser) rs1565859485
NM_000277.3(PAH):c.368G>T (p.Arg123Ile) rs199475681
NM_000277.3(PAH):c.379G>A (p.Glu127Lys) rs1555206565
NM_000277.3(PAH):c.380A>G (p.Glu127Gly)
NM_000277.3(PAH):c.386A>T (p.Asp129Val) rs199475623
NM_000277.3(PAH):c.399T>C (p.Asn133=) rs145692106
NM_000277.3(PAH):c.411C>T (p.Ser137=) rs1801146
NM_000277.3(PAH):c.441+4A>G rs62508586
NM_000277.3(PAH):c.442-18G>A rs149538764
NM_000277.3(PAH):c.442G>A (p.Gly148Ser) rs80297647
NM_000277.3(PAH):c.442G>C (p.Gly148Arg)
NM_000277.3(PAH):c.443G>T (p.Gly148Val) rs1555205655
NM_000277.3(PAH):c.44T>A (p.Leu15His)
NM_000277.3(PAH):c.460T>A (p.Tyr154Asn) rs199475587
NM_000277.3(PAH):c.463C>T (p.Arg155Cys) rs539743701
NM_000277.3(PAH):c.46T>C (p.Ser16Pro) rs62642946
NM_000277.3(PAH):c.473G>C (p.Arg158Pro) rs5030843
NM_000277.3(PAH):c.47C>A (p.Ser16Tyr) rs1592991188
NM_000277.3(PAH):c.493G>C (p.Ala165Pro) rs199475626
NM_000277.3(PAH):c.500A>G (p.Asn167Ser) rs77554925
NM_000277.3(PAH):c.505C>G (p.Arg169Gly) rs281865440
NM_000277.3(PAH):c.511G>A (p.Gly171Arg) rs199475613
NM_000277.3(PAH):c.523C>G (p.Pro175Ala) rs199475604
NM_000277.3(PAH):c.523C>T (p.Pro175Ser) rs199475604
NM_000277.3(PAH):c.559T>C (p.Trp187Arg) rs62507272
NM_000277.3(PAH):c.561G>C (p.Trp187Cys) rs62507336
NM_000277.3(PAH):c.568G>A (p.Val190Met) rs281865441
NM_000277.3(PAH):c.587C>A (p.Ser196Tyr) rs865899394
NM_000277.3(PAH):c.59A>C (p.Gln20Pro) rs199475662
NM_000277.3(PAH):c.59A>T (p.Gln20Leu) rs199475662
NM_000277.3(PAH):c.60+5_60+6del rs1592991131
NM_000277.3(PAH):c.609C>T (p.Cys203=) rs1801147
NM_000277.3(PAH):c.60G>C (p.Gln20His) rs199475688
NM_000277.3(PAH):c.61-3T>C
NM_000277.3(PAH):c.617A>G (p.Tyr206Cys) rs62508728
NM_000277.3(PAH):c.620A>G (p.Asn207Ser) rs62508721
NM_000277.3(PAH):c.637C>T (p.Leu213Phe) rs1131691945
NM_000277.3(PAH):c.649T>C (p.Cys217Arg) rs62508718
NM_000277.3(PAH):c.650G>A (p.Cys217Tyr) rs62508617
NM_000277.3(PAH):c.65C>A (p.Thr22Lys) rs199565868
NM_000277.3(PAH):c.668A>T (p.Asn223Ile) rs201245932
NM_000277.3(PAH):c.712A>C (p.Thr238Pro) rs199475577
NM_000277.3(PAH):c.718T>G (p.Phe240Val) rs62507337
NM_000277.3(PAH):c.71A>G (p.Tyr24Cys) rs539994406
NM_000277.3(PAH):c.737C>T (p.Ala246Val) rs199475610
NM_000277.3(PAH):c.740G>A (p.Gly247Asp) rs199475579
NM_000277.3(PAH):c.757G>A (p.Asp253Asn) rs765533320
NM_000277.3(PAH):c.772C>T (p.Leu258=) rs75065106
NM_000277.3(PAH):c.781C>G (p.Arg261Gly) rs5030850
NM_000277.3(PAH):c.782G>T (p.Arg261Leu) rs5030849
NM_000277.3(PAH):c.786C>T (p.Val262=)
NM_000277.3(PAH):c.789C>G (p.Phe263Leu) rs62642944
NM_000277.3(PAH):c.791A>T (p.His264Leu) rs199475580
NM_000277.3(PAH):c.800A>G (p.Gln267Arg) rs778154939
NM_000277.3(PAH):c.800A>T (p.Gln267Leu) rs778154939
NM_000277.3(PAH):c.802T>C (p.Tyr268His) rs62507263
NM_000277.3(PAH):c.805A>C (p.Ile269Leu) rs62508692
NM_000277.3(PAH):c.811C>T (p.His271Tyr) rs62517164
NM_000277.3(PAH):c.812A>T (p.His271Leu) rs199475692
NM_000277.3(PAH):c.817T>C (p.Ser273Pro) rs1565846754
NM_000277.3(PAH):c.828G>A (p.Met276Ile) rs62514954
NM_000277.3(PAH):c.842+4A>T rs1555204434
NM_000277.3(PAH):c.842+6T>A rs1592952773
NM_000277.3(PAH):c.864G>C (p.Leu288Phe) rs62507327
NM_000277.3(PAH):c.870T>G (p.His290Gln) rs751203209
NM_000277.3(PAH):c.880T>A (p.Phe294Ile) rs1565846198
NM_000277.3(PAH):c.886G>C (p.Asp296His) rs765934604
NM_000277.3(PAH):c.887A>G (p.Asp296Gly) rs281865446
NM_000277.3(PAH):c.895T>C (p.Phe299Leu) rs796064504
NM_000277.3(PAH):c.895_897del (p.Phe299del) rs62507267
NM_000277.3(PAH):c.897T>C (p.Phe299=) rs886048890
NM_000277.3(PAH):c.899C>T (p.Ala300Val) rs199475609
NM_000277.3(PAH):c.912+3A>C rs281865450
NM_000277.3(PAH):c.912G>A (p.Gln304=) rs199475583
NM_000277.3(PAH):c.913-3C>G rs281865451
NM_000277.3(PAH):c.913-8A>G rs281865452
NM_000277.3(PAH):c.934G>C (p.Gly312Arg) rs763115697
NM_000277.3(PAH):c.937G>A (p.Ala313Thr) rs62642912
NM_000277.3(PAH):c.965C>G (p.Ala322Gly) rs62514958
NM_000277.3(PAH):c.969+6T>A rs62517196
NM_000277.3(PAH):c.969A>G (p.Thr323=) rs199475637
NM_000277.3(PAH):c.983C>T (p.Thr328Ile) rs886042096
NM_000456.2(SUOX):c.-322C>T rs886049678
NM_000481.3(AMT):c.100C>T (p.Arg34Cys) rs143389339
NM_000481.3(AMT):c.101G>A (p.Arg34His) rs138259479
NM_000481.3(AMT):c.1033+2dup rs976598152
NM_000481.3(AMT):c.1034-1G>C rs1575302765
NM_000481.3(AMT):c.339+3G>T rs752570901
NM_000481.3(AMT):c.697-3C>T rs373703503
NM_000481.3(AMT):c.91-9C>T rs761235679
NM_000481.4(AMT):c.*163G>C rs200568631
NM_000481.4(AMT):c.*407T>C rs761498529
NM_000481.4(AMT):c.*424G>C rs746995778
NM_000481.4(AMT):c.*545C>T rs114057053
NM_000481.4(AMT):c.*616C>T
NM_000481.4(AMT):c.*621A>G
NM_000481.4(AMT):c.*678C>G rs779703869
NM_000481.4(AMT):c.*86G>T rs745685639
NM_000481.4(AMT):c.1082C>T (p.Ala361Val) rs757293245
NM_000481.4(AMT):c.1087G>C (p.Gly363Arg) rs1167886830
NM_000481.4(AMT):c.1097C>T (p.Pro366Leu)
NM_000481.4(AMT):c.1112G>A (p.Arg371His) rs147006017
NM_000481.4(AMT):c.1136A>C (p.Glu379Ala)
NM_000481.4(AMT):c.1138G>A (p.Val380Met)
NM_000481.4(AMT):c.1150_1152CAG[1] (p.Gln385del) rs747544827
NM_000481.4(AMT):c.1153C>T (p.Gln385Ter) rs1553638206
NM_000481.4(AMT):c.1157T>C (p.Met386Thr) rs757170367
NM_000481.4(AMT):c.1190C>A (p.Thr397Lys) rs886058683
NM_000481.4(AMT):c.1199A>G (p.Tyr400Cys)
NM_000481.4(AMT):c.1199_1202delinsTAT (p.Tyr400fs) rs1553638191
NM_000481.4(AMT):c.1209del (p.Lys403fs) rs1553638189
NM_000481.4(AMT):c.130G>A (p.Ala44Thr)
NM_000481.4(AMT):c.148G>T (p.Val50Leu) rs148917929
NM_000481.4(AMT):c.152C>T (p.Ala51Val) rs34812788
NM_000481.4(AMT):c.153G>A (p.Ala51=) rs768510463
NM_000481.4(AMT):c.158C>T (p.Ala53Val)
NM_000481.4(AMT):c.194A>G (p.His65Arg)
NM_000481.4(AMT):c.195C>T (p.His65=) rs145243292
NM_000481.4(AMT):c.212A>C (p.His71Pro) rs1053797603
NM_000481.4(AMT):c.339+3G>A
NM_000481.4(AMT):c.341G>A (p.Gly114Glu) rs1575306589
NM_000481.4(AMT):c.350C>T (p.Ser117Leu) rs769468125
NM_000481.4(AMT):c.354G>A (p.Leu118=) rs145194293
NM_000481.4(AMT):c.371G>A (p.Gly124Glu) rs1575306496
NM_000481.4(AMT):c.401A>G (p.Asn134Ser) rs776832405
NM_000481.4(AMT):c.403A>G (p.Thr135Ala)
NM_000481.4(AMT):c.434A>G (p.Asn145Ser)
NM_000481.4(AMT):c.436G>A (p.Ala146Thr) rs570868528
NM_000481.4(AMT):c.471+12_471+13del rs370772505
NM_000481.4(AMT):c.476A>G (p.Lys159Arg) rs1553638556
NM_000481.4(AMT):c.503G>C (p.Arg168Thr) rs200058579
NM_000481.4(AMT):c.513C>T (p.Gly171=) rs555045517
NM_000481.4(AMT):c.515T>C (p.Leu172Pro) rs1366977126
NM_000481.4(AMT):c.555C>T (p.Pro185=) rs144790394
NM_000481.4(AMT):c.57_59dup (p.Pro20dup) rs386833686
NM_000481.4(AMT):c.584T>C (p.Val195Ala)
NM_000481.4(AMT):c.589G>C (p.Asp197His) rs200550585
NM_000481.4(AMT):c.60G>A (p.Pro20=) rs374750709
NM_000481.4(AMT):c.625G>A (p.Val209Met) rs370287514
NM_000481.4(AMT):c.635T>C (p.Val212Ala) rs201141125
NM_000481.4(AMT):c.685G>C (p.Asp229His) rs1553638463
NM_000481.4(AMT):c.705_710dup (p.Pro236_Val237dup) rs1553638433
NM_000481.4(AMT):c.713C>T (p.Ala238Val) rs199985521
NM_000481.4(AMT):c.727C>A (p.Leu243Met) rs1575304886
NM_000481.4(AMT):c.750C>T (p.Asn250=)
NM_000481.4(AMT):c.752C>G (p.Pro251Arg) rs770999859
NM_000481.4(AMT):c.78T>C (p.Leu26=) rs764624214
NM_000481.4(AMT):c.793C>T (p.Arg265Cys) rs779483959
NM_000481.4(AMT):c.825T>A (p.Asn275Lys) rs144241950
NM_000481.4(AMT):c.84C>T (p.Cys28=) rs763223038
NM_000481.4(AMT):c.852G>A (p.Val284=) rs749481166
NM_000481.4(AMT):c.856G>A (p.Gly286Ser)
NM_000481.4(AMT):c.857G>A (p.Gly286Asp)
NM_000481.4(AMT):c.858C>A (p.Gly286=) rs367726589
NM_000481.4(AMT):c.86C>T (p.Ala29Val)
NM_000481.4(AMT):c.892G>A (p.Ala298Thr)
NM_000481.4(AMT):c.958C>T (p.Arg320Cys) rs866625610
NM_000481.4(AMT):c.961G>A (p.Val321Met) rs149457059
NM_000481.4(AMT):c.962T>C (p.Val321Ala) rs766509002
NM_001001563.5(TIMM50):c.671G>T (p.Arg224Ile)
NM_001024845.3(SLC6A9):c.461A>G (p.His154Arg)
NM_001024845.3(SLC6A9):c.535T>C (p.Ser179Pro) rs201636712
NM_001024845.3(SLC6A9):c.64G>A (p.Asp22Asn)
NM_001024845.3(SLC6A9):c.664G>A (p.Gly222Ser) rs143087050
NM_001032386.2(SUOX):c.*155C>T rs530553316
NM_001032386.2(SUOX):c.*187G>T rs886049684
NM_001032386.2(SUOX):c.*26C>G rs770314090
NM_001032386.2(SUOX):c.*311A>G
NM_001032386.2(SUOX):c.*355T>C rs886049685
NM_001032386.2(SUOX):c.*369G>A
NM_001032386.2(SUOX):c.*479T>C
NM_001032386.2(SUOX):c.*47A>C
NM_001032386.2(SUOX):c.*496T>C rs569168288
NM_001032386.2(SUOX):c.-11+1672T>A rs886049681
NM_001032386.2(SUOX):c.-11+1723G>A rs373341778
NM_001032386.2(SUOX):c.-129A>G
NM_001032386.2(SUOX):c.-25G>C rs886049680
NM_001032386.2(SUOX):c.-58C>A rs886049679
NM_001032386.2(SUOX):c.-85G>A rs773650494
NM_001032386.2(SUOX):c.1137A>G (p.Lys379=)
NM_001032386.2(SUOX):c.119G>A (p.Arg40His) rs117778870
NM_001032386.2(SUOX):c.1247C>T (p.Ser416Phe) rs886049683
NM_001032386.2(SUOX):c.1282G>A (p.Ala428Thr) rs553699159
NM_001032386.2(SUOX):c.1306G>A (p.Glu436Lys) rs142424431
NM_001032386.2(SUOX):c.1333A>G (p.Ile445Val) rs999936687
NM_001032386.2(SUOX):c.1388_1389CT[1] (p.Leu464fs) rs1592831898
NM_001032386.2(SUOX):c.1527G>A (p.Lys509=)
NM_001032386.2(SUOX):c.1586G>A (p.Arg529Gln) rs754321646
NM_001032386.2(SUOX):c.1612C>T (p.Arg538Cys)
NM_001032386.2(SUOX):c.186A>T (p.Leu62Phe) rs1347179760
NM_001032386.2(SUOX):c.192C>T (p.Leu64=) rs577360771
NM_001032386.2(SUOX):c.199G>C (p.Val67Leu)
NM_001032386.2(SUOX):c.228+1G>A
NM_001032386.2(SUOX):c.228G>T (p.Arg76Ser) rs202085145
NM_001032386.2(SUOX):c.23T>C (p.Val8Ala) rs537720526
NM_001032386.2(SUOX):c.279C>T (p.His93=) rs763253683
NM_001032386.2(SUOX):c.364C>G (p.Pro122Ala) rs886049682
NM_001032386.2(SUOX):c.50+9G>A rs368327991
NM_001032386.2(SUOX):c.507C>T (p.Thr169=) rs765012855
NM_001032386.2(SUOX):c.51-14G>A
NM_001032386.2(SUOX):c.574C>T (p.Arg192Trp) rs139444405
NM_001032386.2(SUOX):c.621C>T (p.Tyr207=)
NM_001032386.2(SUOX):c.713C>T (p.Pro238Leu)
NM_001032386.2(SUOX):c.889C>T (p.Arg297Trp) rs767916239
NM_001032386.2(SUOX):c.890G>A (p.Arg297Gln)
NM_001032386.2(SUOX):c.89G>C (p.Cys30Ser)
NM_001032386.2(SUOX):c.931G>A (p.Glu311Lys) rs778950352
NM_001032386.2(SUOX):c.968C>T (p.Ser323Leu) rs143457531
NM_001032386.2(SUOX):c.983C>T (p.Thr328Ile) rs540792428
NM_001178008.2(CBS):c.-85+298T>C
NM_001289910.1(IDH2):c.432C>G (p.Phe144Leu) rs758536587
NM_001289910.1(IDH2):c.688A>G (p.Lys230Glu) rs771346231
NM_001289910.1(IDH2):c.973C>T (p.Arg325Cys) rs765712414
NM_001321336.1(SPATA22):c.-73-19863del rs1567614635
NM_001321336.1(SPATA22):c.-73-19929_-73-19921del rs1555539888
NM_001321336.1(SPATA22):c.-74+14389_-74+14391del rs1555541321
NM_001354304.2(PAH):c.-95-137C>G rs886048893
NM_001358530.2(MOCS1):c.*1003G>A rs374341048
NM_001358530.2(MOCS1):c.*1046A>T
NM_001358530.2(MOCS1):c.*1062_*1063dup rs886061382
NM_001358530.2(MOCS1):c.*1063T>A rs886061383
NM_001358530.2(MOCS1):c.*1067A>C rs754337805
NM_001358530.2(MOCS1):c.*1117A>C rs886061381
NM_001358530.2(MOCS1):c.*1305C>T rs7744483
NM_001358530.2(MOCS1):c.*1307A>G
NM_001358530.2(MOCS1):c.*1341T>A
NM_001358530.2(MOCS1):c.*135T>G rs370974142
NM_001358530.2(MOCS1):c.*142C>G
NM_001358530.2(MOCS1):c.*1433T>A rs745650301
NM_001358530.2(MOCS1):c.*1436C>T rs886061380
NM_001358530.2(MOCS1):c.*1445C>T rs575187638
NM_001358530.2(MOCS1):c.*1502A>G
NM_001358530.2(MOCS1):c.*1628C>T rs766403739
NM_001358530.2(MOCS1):c.*1660_*1663ATAG[3] rs112059918
NM_001358530.2(MOCS1):c.*1711G>A rs886061379
NM_001358530.2(MOCS1):c.*1752C>G
NM_001358530.2(MOCS1):c.*1808G>A
NM_001358530.2(MOCS1):c.*1832G>A
NM_001358530.2(MOCS1):c.*1835T>G
NM_001358530.2(MOCS1):c.*1857G>A rs193217053
NM_001358530.2(MOCS1):c.*1866_*1870dup rs370863199
NM_001358530.2(MOCS1):c.*1878G>A rs886061378
NM_001358530.2(MOCS1):c.*1884G>A
NM_001358530.2(MOCS1):c.*1942C>T rs764671362
NM_001358530.2(MOCS1):c.*1954G>A
NM_001358530.2(MOCS1):c.*2074A>G
NM_001358530.2(MOCS1):c.*282T>C
NM_001358530.2(MOCS1):c.*2A>G rs767003803
NM_001358530.2(MOCS1):c.*326C>T
NM_001358530.2(MOCS1):c.*400C>T rs764443066
NM_001358530.2(MOCS1):c.*423C>A rs886061387
NM_001358530.2(MOCS1):c.*477C>T rs184315150
NM_001358530.2(MOCS1):c.*523T>C
NM_001358530.2(MOCS1):c.*633C>T
NM_001358530.2(MOCS1):c.*638C>G rs886061386
NM_001358530.2(MOCS1):c.*659A>G
NM_001358530.2(MOCS1):c.*664T>C rs148100667
NM_001358530.2(MOCS1):c.*739C>T rs886061385
NM_001358530.2(MOCS1):c.*756A>C
NM_001358530.2(MOCS1):c.*759_*761dup rs543804008
NM_001358530.2(MOCS1):c.*762G>A rs115429345
NM_001358530.2(MOCS1):c.*76T>C
NM_001358530.2(MOCS1):c.*771_*772dup rs886061384
NM_001358530.2(MOCS1):c.*803C>T
NM_001358530.2(MOCS1):c.*84A>G rs752606397
NM_001358530.2(MOCS1):c.*888C>T
NM_001358530.2(MOCS1):c.*908_*911AATC[5] rs3839624
NM_001358530.2(MOCS1):c.1015C>T (p.Arg339Trp) rs148579886
NM_001358530.2(MOCS1):c.1016G>A (p.Arg339Gln) rs142478972
NM_001358530.2(MOCS1):c.1028G>A (p.Arg343Gln) rs781187745
NM_001358530.2(MOCS1):c.1064T>C (p.Ile355Thr) rs143912353
NM_001358530.2(MOCS1):c.1098T>G (p.His366Gln)
NM_001358530.2(MOCS1):c.1102+1_1102+2del rs1562086288
NM_001358530.2(MOCS1):c.1106T>A (p.Met369Lys)
NM_001358530.2(MOCS1):c.1132C>G (p.Arg378Gly)
NM_001358530.2(MOCS1):c.1150G>A (p.Glu384Lys) rs751603831
NM_001358530.2(MOCS1):c.1211C>T (p.Pro404Leu) rs570962724
NM_001358530.2(MOCS1):c.1226G>A (p.Gly409Asp)
NM_001358530.2(MOCS1):c.124-167C>T
NM_001358530.2(MOCS1):c.124-176A>T
NM_001358530.2(MOCS1):c.124-69G>A rs45487695
NM_001358530.2(MOCS1):c.1282A>G (p.Arg428Gly) rs886061389
NM_001358530.2(MOCS1):c.1315C>T (p.Arg439Trp)
NM_001358530.2(MOCS1):c.1362C>T (p.Asp454=)
NM_001358530.2(MOCS1):c.1367A>T (p.Asp456Val) rs143730711
NM_001358530.2(MOCS1):c.1400G>A (p.Trp467Ter)
NM_001358530.2(MOCS1):c.1413C>T (p.Ala471=) rs745789021
NM_001358530.2(MOCS1):c.152G>T (p.Arg51Leu) rs754387991
NM_001358530.2(MOCS1):c.156G>C (p.Glu52Asp) rs766904353
NM_001358530.2(MOCS1):c.1628C>A (p.Ala543Glu) rs886061388
NM_001358530.2(MOCS1):c.162G>A (p.Ala54=) rs200316862
NM_001358530.2(MOCS1):c.1668C>T (p.His556=)
NM_001358530.2(MOCS1):c.1687C>G (p.Gln563Glu) rs777476892
NM_001358530.2(MOCS1):c.1714C>T (p.Arg572Cys)
NM_001358530.2(MOCS1):c.175G>T (p.Ala59Ser) rs770756364
NM_001358530.2(MOCS1):c.1788T>G (p.Ser596=) rs200764011
NM_001358530.2(MOCS1):c.264G>A (p.Met88Ile) rs144238782
NM_001358530.2(MOCS1):c.282G>A (p.Pro94=)
NM_001358530.2(MOCS1):c.301C>T (p.Leu101=)
NM_001358530.2(MOCS1):c.339C>T (p.Leu113=)
NM_001358530.2(MOCS1):c.358G>C (p.Asp120His) rs368420298
NM_001358530.2(MOCS1):c.394C>T (p.Arg132Trp) rs377167949
NM_001358530.2(MOCS1):c.421C>G (p.Gln141Glu) rs368942024
NM_001358530.2(MOCS1):c.426C>T (p.Leu142=) rs375882259
NM_001358530.2(MOCS1):c.519T>G (p.Ser173Arg) rs61732596
NM_001358530.2(MOCS1):c.520G>A (p.Ala174Thr) rs143573353
NM_001358530.2(MOCS1):c.583+12T>C
NM_001358530.2(MOCS1):c.583+7G>A
NM_001358530.2(MOCS1):c.644A>G (p.Lys215Arg) rs887485143
NM_001358530.2(MOCS1):c.707C>T (p.Thr236Ile)
NM_001358530.2(MOCS1):c.719C>T (p.Pro240Leu)
NM_001358530.2(MOCS1):c.729G>A (p.Val243=) rs886061390
NM_001358530.2(MOCS1):c.758-9C>T rs368402544
NM_001358530.2(MOCS1):c.814C>T (p.Arg272Trp) rs146944225
NM_001358530.2(MOCS1):c.853G>A (p.Glu285Lys) rs140243105
NM_001358530.2(MOCS1):c.868A>C (p.Lys290Gln)
NM_001358530.2(MOCS1):c.981+12C>T rs377628500
NM_001609.3(ACADSB):c.*1195C>A rs886046787
NM_001609.3(ACADSB):c.*1337A>G rs190353878
NM_001609.3(ACADSB):c.*1508C>T rs886046788
NM_001609.3(ACADSB):c.*1543G>T rs886046789
NM_001609.3(ACADSB):c.*1682T>C rs886046790
NM_001609.3(ACADSB):c.*1754A>G rs886046791
NM_001609.3(ACADSB):c.*1840T>G rs886046792
NM_001609.3(ACADSB):c.*1907C>T rs886046793
NM_001609.3(ACADSB):c.*1942C>T rs886046794
NM_001609.3(ACADSB):c.*2060G>A rs886046795
NM_001609.3(ACADSB):c.*2085C>T rs766980366
NM_001609.3(ACADSB):c.*2174A>G rs577027224
NM_001609.3(ACADSB):c.*2224A>C rs192771453
NM_001609.3(ACADSB):c.*2329A>G rs543916865
NM_001609.3(ACADSB):c.*2339G>A rs886046796
NM_001609.3(ACADSB):c.*2529G>A rs182831006
NM_001609.3(ACADSB):c.*2548G>T rs545467732
NM_001609.3(ACADSB):c.*2686G>C rs886046797
NM_001609.3(ACADSB):c.*277A>T rs149609453
NM_001609.3(ACADSB):c.*2803T>C rs187253795
NM_001609.3(ACADSB):c.*285T>C rs552366364
NM_001609.3(ACADSB):c.*2922G>A rs184574685
NM_001609.3(ACADSB):c.*2950A>G rs886046798
NM_001609.3(ACADSB):c.*323G>A rs886046785
NM_001609.3(ACADSB):c.*3340G>C rs886046799
NM_001609.3(ACADSB):c.*3390C>A rs751677400
NM_001609.3(ACADSB):c.*3431C>G rs886046800
NM_001609.3(ACADSB):c.*3470T>C rs547577402
NM_001609.3(ACADSB):c.*3483T>G rs886046801
NM_001609.3(ACADSB):c.*3597G>A rs755235760
NM_001609.3(ACADSB):c.*3619T>C rs886046802
NM_001609.3(ACADSB):c.*3918G>A rs886046803
NM_001609.3(ACADSB):c.*3941C>A rs886046804
NM_001609.3(ACADSB):c.*3993T>A rs886046805
NM_001609.3(ACADSB):c.*4177G>A rs886046806
NM_001609.3(ACADSB):c.*57G>A rs886046783
NM_001609.3(ACADSB):c.*59G>A rs886046784
NM_001609.3(ACADSB):c.*6A>G rs530087761
NM_001609.3(ACADSB):c.*973A>G rs886046786
NM_001609.3(ACADSB):c.-102G>C rs886046775
NM_001609.3(ACADSB):c.-22A>G rs563472823
NM_001609.3(ACADSB):c.-39G>A rs886046776
NM_001609.3(ACADSB):c.1062T>C (p.Ala354=) rs886046780
NM_001609.3(ACADSB):c.1128+2_1128+3insTA rs1554874107
NM_001609.3(ACADSB):c.1128+2_1128+4del rs1564754575
NM_001609.3(ACADSB):c.1128+3A>G rs760423996
NM_001609.3(ACADSB):c.1128+3A>T rs760423996
NM_001609.3(ACADSB):c.1145C>T (p.Thr382Met) rs772084235
NM_001609.3(ACADSB):c.1154G>A (p.Cys385Tyr) rs1370215763
NM_001609.3(ACADSB):c.1156A>G (p.Ile386Val) rs770827167
NM_001609.3(ACADSB):c.1159G>A (p.Glu387Lys) rs188094280
NM_001609.3(ACADSB):c.1168G>A (p.Gly390Arg) rs764095189
NM_001609.3(ACADSB):c.1170G>T (p.Gly390=) rs886046781
NM_001609.3(ACADSB):c.1186A>G (p.Lys396Glu) rs199963793
NM_001609.3(ACADSB):c.1187A>C (p.Lys396Thr) rs148640214
NM_001609.3(ACADSB):c.1213C>T (p.Arg405Ter) rs200154326
NM_001609.3(ACADSB):c.1228+8G>C rs202191462
NM_001609.3(ACADSB):c.1271T>C (p.Ile424Thr) rs748926593
NM_001609.3(ACADSB):c.176A>G (p.Asp59Gly) rs1375520384
NM_001609.3(ACADSB):c.260C>T (p.Ser87Leu) rs745481903
NM_001609.3(ACADSB):c.334G>A (p.Gly112Arg) rs1564751382
NM_001609.3(ACADSB):c.370G>C (p.Val124Leu) rs375217368
NM_001609.3(ACADSB):c.429C>T (p.Asn143=) rs886046777
NM_001609.3(ACADSB):c.42G>A (p.Leu14=) rs745863047
NM_001609.3(ACADSB):c.42G>T (p.Leu14=) rs745863047
NM_001609.3(ACADSB):c.443C>T (p.Thr148Ile) rs58639322
NM_001609.3(ACADSB):c.544G>T (p.Gly182Cys) rs886046778
NM_001609.3(ACADSB):c.655G>A (p.Val219Met) rs553730391
NM_001609.3(ACADSB):c.67T>G (p.Leu23Val) rs149562178
NM_001609.3(ACADSB):c.681+14C>T rs748185849
NM_001609.3(ACADSB):c.682-7T>C rs886046779
NM_001609.3(ACADSB):c.795C>T (p.Phe265=) rs150619709
NM_001609.3(ACADSB):c.958A>T (p.Ile320Leu) rs1554873785
NM_001609.3(ACADSB):c.95T>A (p.Val32Asp) rs751722805
NM_001609.4(ACADSB):c.*1380G>A
NM_001609.4(ACADSB):c.*1552A>G
NM_001609.4(ACADSB):c.*1827G>A
NM_001609.4(ACADSB):c.*1865C>T
NM_001609.4(ACADSB):c.*195G>A
NM_001609.4(ACADSB):c.*1981G>A
NM_001609.4(ACADSB):c.*2581A>C
NM_001609.4(ACADSB):c.*263G>A
NM_001609.4(ACADSB):c.*3178A>C
NM_001609.4(ACADSB):c.*3321C>T
NM_001609.4(ACADSB):c.*3332A>T
NM_001609.4(ACADSB):c.*3409A>T
NM_001609.4(ACADSB):c.*3911A>G
NM_001609.4(ACADSB):c.*4324G>T
NM_001609.4(ACADSB):c.*498G>A
NM_001609.4(ACADSB):c.*808G>A
NM_001609.4(ACADSB):c.*808G>C
NM_001609.4(ACADSB):c.*84G>A
NM_001609.4(ACADSB):c.*972A>G
NM_001609.4(ACADSB):c.-19G>C
NM_001609.4(ACADSB):c.1060G>A (p.Ala354Thr)
NM_001609.4(ACADSB):c.1102T>C (p.Ser368Pro)
NM_001609.4(ACADSB):c.1151A>T (p.Lys384Ile)
NM_001609.4(ACADSB):c.1184C>T (p.Thr395Ile)
NM_001609.4(ACADSB):c.1219G>A (p.Ala407Thr)
NM_001609.4(ACADSB):c.1228+21del rs11307362
NM_001609.4(ACADSB):c.1229-15T>G
NM_001609.4(ACADSB):c.1232C>T (p.Thr411Met)
NM_001609.4(ACADSB):c.219G>A (p.Gln73=)
NM_001609.4(ACADSB):c.496C>G (p.Leu166Val)
NM_001609.4(ACADSB):c.512T>G (p.Val171Gly)
NM_001609.4(ACADSB):c.621G>A (p.Trp207Ter) rs374420253
NM_001609.4(ACADSB):c.675T>C (p.Pro225=)
NM_001609.4(ACADSB):c.960A>T (p.Ile320=) rs147531541
NM_002168.3(IDH2):c.23T>C (p.Val8Ala) rs369445642
NM_002168.4(IDH2):c.137T>A (p.Val46Glu)
NM_002168.4(IDH2):c.293T>C (p.Ile98Thr)
NM_002203.4(ITGA2):c.*3813G>A
NM_003748.4(ALDH4A1):c.*1040C>T
NM_003748.4(ALDH4A1):c.*1041G>A
NM_003748.4(ALDH4A1):c.*1152G>T rs886045702
NM_003748.4(ALDH4A1):c.*1173C>T rs115664776
NM_003748.4(ALDH4A1):c.*1182G>C
NM_003748.4(ALDH4A1):c.*1197C>G rs7419135
NM_003748.4(ALDH4A1):c.*1199A>C rs886045701
NM_003748.4(ALDH4A1):c.*122T>C rs2230712
NM_003748.4(ALDH4A1):c.*189G>A rs11484737
NM_003748.4(ALDH4A1):c.*19C>T
NM_003748.4(ALDH4A1):c.*210C>A rs886045705
NM_003748.4(ALDH4A1):c.*223G>A rs553318512
NM_003748.4(ALDH4A1):c.*272C>T rs41273171
NM_003748.4(ALDH4A1):c.*367C>T
NM_003748.4(ALDH4A1):c.*464G>A rs536186688
NM_003748.4(ALDH4A1):c.*646G>A rs567528405
NM_003748.4(ALDH4A1):c.*690G>A rs886045704
NM_003748.4(ALDH4A1):c.*711C>G
NM_003748.4(ALDH4A1):c.*719C>T rs778905588
NM_003748.4(ALDH4A1):c.*776C>T
NM_003748.4(ALDH4A1):c.*900G>C
NM_003748.4(ALDH4A1):c.*944C>T rs886045703
NM_003748.4(ALDH4A1):c.*9C>T rs138534161
NM_003748.4(ALDH4A1):c.-24G>A rs886045707
NM_003748.4(ALDH4A1):c.-26G>T rs536547354
NM_003748.4(ALDH4A1):c.102C>T (p.Asn34=) rs148778436
NM_003748.4(ALDH4A1):c.1070C>T (p.Pro357Leu)
NM_003748.4(ALDH4A1):c.1073A>G (p.His358Arg) rs145243354
NM_003748.4(ALDH4A1):c.1082G>C (p.Trp361Ser) rs763793413
NM_003748.4(ALDH4A1):c.1086G>C (p.Pro362=) rs41310410
NM_003748.4(ALDH4A1):c.1093A>C (p.Lys365Gln) rs770756077
NM_003748.4(ALDH4A1):c.1096G>A (p.Gly366Arg) rs41306567
NM_003748.4(ALDH4A1):c.1098G>A (p.Gly366=) rs147471420
NM_003748.4(ALDH4A1):c.1099C>T (p.Arg367Trp)
NM_003748.4(ALDH4A1):c.1185+10G>A
NM_003748.4(ALDH4A1):c.1186-11G>A
NM_003748.4(ALDH4A1):c.1195C>T (p.Arg399Cys)
NM_003748.4(ALDH4A1):c.1196G>A (p.Arg399His)
NM_003748.4(ALDH4A1):c.1212G>A (p.Leu404=)
NM_003748.4(ALDH4A1):c.1218C>T (p.His406=) rs111291014
NM_003748.4(ALDH4A1):c.1236C>G (p.Ser412Arg) rs201762741
NM_003748.4(ALDH4A1):c.1252G>C (p.Gly418Arg) rs148586081
NM_003748.4(ALDH4A1):c.1261T>C (p.Cys421Arg) rs149414160
NM_003748.4(ALDH4A1):c.135T>G (p.Pro45=) rs147154947
NM_003748.4(ALDH4A1):c.1369G>A (p.Val457Ile) rs199828375
NM_003748.4(ALDH4A1):c.1377G>C (p.Pro459=) rs146222625
NM_003748.4(ALDH4A1):c.1381G>A (p.Asp461Asn) rs377270740
NM_003748.4(ALDH4A1):c.1439G>A (p.Gly480Glu) rs762708368
NM_003748.4(ALDH4A1):c.1460+15C>T
NM_003748.4(ALDH4A1):c.150G>A (p.Leu50=)
NM_003748.4(ALDH4A1):c.157-14G>A
NM_003748.4(ALDH4A1):c.1571G>A (p.Arg524Gln)
NM_003748.4(ALDH4A1):c.1580-5C>T
NM_003748.4(ALDH4A1):c.1583C>A (p.Thr528Asn) rs61757683
NM_003748.4(ALDH4A1):c.1624A>G (p.Thr542Ala)
NM_003748.4(ALDH4A1):c.1625C>T (p.Thr542Met) rs771061582
NM_003748.4(ALDH4A1):c.1632G>A (p.Pro544=)
NM_003748.4(ALDH4A1):c.1678G>A (p.Ala560Thr)
NM_003748.4(ALDH4A1):c.1681T>A (p.Tyr561Asn) rs528211463
NM_003748.4(ALDH4A1):c.16C>T (p.Pro6Ser)
NM_003748.4(ALDH4A1):c.198C>T (p.Cys66=)
NM_003748.4(ALDH4A1):c.228G>A (p.Ser76=) rs145686117
NM_003748.4(ALDH4A1):c.244G>A (p.Val82Met) rs76762510
NM_003748.4(ALDH4A1):c.250-6T>A
NM_003748.4(ALDH4A1):c.298-14C>T
NM_003748.4(ALDH4A1):c.337C>T (p.Arg113Trp) rs142923662
NM_003748.4(ALDH4A1):c.362T>C (p.Ile121Thr)
NM_003748.4(ALDH4A1):c.369C>G (p.Asp123Glu) rs147600006
NM_003748.4(ALDH4A1):c.381C>G (p.Ile127Met)
NM_003748.4(ALDH4A1):c.397G>T (p.Asp133Tyr)
NM_003748.4(ALDH4A1):c.413C>T (p.Pro138Leu) rs139640415
NM_003748.4(ALDH4A1):c.421G>A (p.Ala141Thr) rs377259750
NM_003748.4(ALDH4A1):c.446T>A (p.Val149Glu) rs886045706
NM_003748.4(ALDH4A1):c.487G>A (p.Ala163Thr) rs201780333
NM_003748.4(ALDH4A1):c.490G>C (p.Ala164Pro) rs369957092
NM_003748.4(ALDH4A1):c.59C>A (p.Ala20Asp)
NM_003748.4(ALDH4A1):c.648C>T (p.Gly216=) rs139340058
NM_003748.4(ALDH4A1):c.678+3G>A rs138788183
NM_003748.4(ALDH4A1):c.698A>G (p.Lys233Arg)
NM_003748.4(ALDH4A1):c.740G>T (p.Arg247Leu)
NM_003748.4(ALDH4A1):c.800C>A (p.Pro267His) rs141843191
NM_003748.4(ALDH4A1):c.842G>T (p.Gly281Val)
NM_003748.4(ALDH4A1):c.866+1G>A rs78532707
NM_003748.4(ALDH4A1):c.876A>G (p.Lys292=)
NM_003748.4(ALDH4A1):c.974G>A (p.Arg325His)
NM_004483.5(GCSH):c.133C>G (p.Pro45Ala)
NM_004483.5(GCSH):c.149-3T>C
NM_004483.5(GCSH):c.17T>G (p.Val6Gly) rs1567591606
NM_004483.5(GCSH):c.20G>A (p.Arg7Gln)
NM_004483.5(GCSH):c.22A>G (p.Ser8Gly) rs546860042
NM_004483.5(GCSH):c.31G>A (p.Ala11Thr)
NM_004483.5(GCSH):c.329G>A (p.Ser110Asn) rs779721507
NM_004483.5(GCSH):c.413G>A (p.Cys138Tyr) rs540817676
NM_004483.5(GCSH):c.423T>C (p.Asp141=)
NM_004483.5(GCSH):c.446T>C (p.Leu149Pro) rs944048995
NM_004483.5(GCSH):c.49C>T (p.Arg17Cys)
NM_004483.5(GCSH):c.511A>T (p.Ile171Phe)
NM_004483.5(GCSH):c.512T>C (p.Ile171Thr)
NM_004483.5(GCSH):c.53C>T (p.Ala18Val) rs540997326
NM_004483.5(GCSH):c.77G>A (p.Cys26Tyr) rs1443267686
NM_004483.5(GCSH):c.89C>T (p.Pro30Leu) rs1003539348
NM_004531.5(MOCS2):c.*1167G>A
NM_004531.5(MOCS2):c.*122G>A
NM_004531.5(MOCS2):c.*1284C>G
NM_004531.5(MOCS2):c.*1424G>A
NM_004531.5(MOCS2):c.*143G>A rs2233223
NM_004531.5(MOCS2):c.*1483C>T
NM_004531.5(MOCS2):c.*1545G>A
NM_004531.5(MOCS2):c.*1658G>A
NM_004531.5(MOCS2):c.*171G>C rs191465075
NM_004531.5(MOCS2):c.*1918A>G
NM_004531.5(MOCS2):c.*2045G>A
NM_004531.5(MOCS2):c.*2609G>C
NM_004531.5(MOCS2):c.*2672G>C
NM_004531.5(MOCS2):c.*2675A>C
NM_004531.5(MOCS2):c.*2877G>T
NM_004531.5(MOCS2):c.*321A>G rs73756618
NM_004531.5(MOCS2):c.*32C>G
NM_004531.5(MOCS2):c.*344C>T
NM_004531.5(MOCS2):c.*372G>A rs753919594
NM_004531.5(MOCS2):c.*44A>C rs367775935
NM_004531.5(MOCS2):c.*518C>T
NM_004531.5(MOCS2):c.*532G>A rs886060695
NM_004531.5(MOCS2):c.*651G>A
NM_004531.5(MOCS2):c.*673A>T
NM_004531.5(MOCS2):c.*722T>C
NM_004531.5(MOCS2):c.*837T>C
NM_004531.5(MOCS2):c.*876T>C
NM_004531.5(MOCS2):c.-10C>T rs146074751
NM_004531.5(MOCS2):c.-54A>C rs1561177917
NM_004531.5(MOCS2):c.-622G>A rs373522800
NM_004531.5(MOCS2):c.-630G>T
NM_004531.5(MOCS2):c.-635G>A rs572637154
NM_004531.5(MOCS2):c.-642C>T rs886060696
NM_004531.5(MOCS2):c.-646G>A rs1273139451
NM_004531.5(MOCS2):c.-664C>A rs764809636
NM_004531.5(MOCS2):c.-71G>A rs773035025
NM_004531.5(MOCS2):c.108G>A (p.Met36Ile) rs140563222
NM_004531.5(MOCS2):c.261C>T (p.Val87=) rs777565219
NM_004531.5(MOCS2):c.296C>T (p.Ala99Val) rs2233217
NM_004531.5(MOCS2):c.346_349del (p.Val116fs) rs398122798
NM_004531.5(MOCS2):c.415G>A (p.Val139Met) rs199581021
NM_004531.5(MOCS2):c.99-8_99-5del rs779872271
NM_005881.4(BCKDK):c.193A>G (p.Lys65Glu) rs1596808163
NM_005881.4(BCKDK):c.196-8del rs1596808347
NM_005881.4(BCKDK):c.373G>A (p.Val125Met) rs141282419
NM_005881.4(BCKDK):c.847G>A (p.Ala283Thr) rs760851100
NM_005881.4(BCKDK):c.851C>T (p.Thr284Ile)
NM_005881.4(BCKDK):c.904A>G (p.Ile302Val) rs201164597
NM_016335.5(PRODH):c.1006G>A (p.Ala336Thr) rs1160517835
NM_016335.5(PRODH):c.1093G>A (p.Val365Ile) rs768237039
NM_016335.5(PRODH):c.1163C>T (p.Pro388Leu) rs147233639
NM_016335.5(PRODH):c.130_156del (p.Thr44_Ala52del) rs949036081
NM_016335.5(PRODH):c.1322T>C (p.Leu441Pro) rs2904551
NM_016335.5(PRODH):c.1418T>C (p.Met473Thr) rs1555890224
NM_016335.5(PRODH):c.391C>T (p.Arg131Trp) rs753625227
NM_016335.5(PRODH):c.650G>A (p.Arg217His) rs148375080
NM_016335.5(PRODH):c.80G>T (p.Arg27Leu) rs1411529753
NM_016335.5(PRODH):c.865T>A (p.Leu289Met) rs137852934
NM_016335.6(PRODH):c.1181C>T (p.Thr394Met)
NM_016335.6(PRODH):c.1357C>T (p.Arg453Cys) rs3970559
NM_016335.6(PRODH):c.1397C>A (p.Thr466Lys)
NM_016335.6(PRODH):c.1402G>A (p.Glu468Lys)
NM_016335.6(PRODH):c.1471G>T (p.Ala491Ser)
NM_020806.4(GPHN):c.1004C>A (p.Ala335Asp) rs1555466432
NM_020806.4(GPHN):c.1033G>A (p.Val345Met) rs774554831
NM_020806.4(GPHN):c.1238C>T (p.Ala413Val) rs1555490611
NM_020806.4(GPHN):c.1243G>T (p.Asp415Tyr) rs1567331787
NM_020806.4(GPHN):c.127G>A (p.Val43Ile) rs117256383
NM_020806.4(GPHN):c.1333A>C (p.Thr445Pro) rs1595179146
NM_020806.4(GPHN):c.144G>T (p.Leu48Phe) rs1381377609
NM_020806.4(GPHN):c.1558A>T (p.Thr520Ser) rs749747472
NM_020806.4(GPHN):c.1678C>T (p.Arg560Cys) rs1567363565
NM_020806.4(GPHN):c.1766A>G (p.Asn589Ser) rs903197780
NM_020806.4(GPHN):c.1831G>A (p.Glu611Lys) rs1060499577
NM_020806.4(GPHN):c.1911-3T>C rs534360121
NM_020806.4(GPHN):c.1946G>T (p.Gly649Val) rs1555506781
NM_020806.4(GPHN):c.2226G>T (p.Leu742Phe) rs1567459862
NM_020806.4(GPHN):c.271G>A (p.Ala91Thr) rs140021399
NM_020806.4(GPHN):c.28A>T (p.Asn10Tyr) rs121908539
NM_020806.4(GPHN):c.307G>A (p.Val103Ile) rs774132595
NM_020806.4(GPHN):c.381G>A (p.Met127Ile) rs1057338763
NM_020806.4(GPHN):c.390-3C>T rs527251241
NM_020806.4(GPHN):c.543T>G (p.Asp181Glu) rs990423200
NM_020806.4(GPHN):c.592A>C (p.Thr198Pro) rs776521403
NM_020806.4(GPHN):c.716C>G (p.Ala239Gly) rs746967730
NM_020806.4(GPHN):c.826C>T (p.Arg276Trp) rs777009433
NM_020806.4(GPHN):c.86A>G (p.Asn29Ser) rs144247888
NM_020806.5(GPHN):c.100C>T (p.Arg34Cys)
NM_020806.5(GPHN):c.1092C>G (p.Ile364Met)
NM_020806.5(GPHN):c.1238-3C>T
NM_020806.5(GPHN):c.172A>T (p.Ile58Leu)
NM_020806.5(GPHN):c.1744G>A (p.Asp582Asn)
NM_020806.5(GPHN):c.1989G>A (p.Ser663=)
NM_020806.5(GPHN):c.278G>A (p.Arg93Gln)
NM_020806.5(GPHN):c.325C>A (p.Pro109Thr)
NM_020806.5(GPHN):c.64+6C>G
NM_020806.5(GPHN):c.670G>A (p.Val224Ile)
NM_020806.5(GPHN):c.685G>A (p.Asp229Asn)
NM_020806.5(GPHN):c.931C>T (p.Arg311Cys)
NM_020806.5(GPHN):c.941C>T (p.Thr314Ile)
NM_021800.3(DNAJC12):c.124C>T (p.His42Tyr) rs1055578473
NM_024884.3(L2HGDH):c.1032T>G (p.Ser344Arg) rs1273518496
NM_024884.3(L2HGDH):c.1177A>G (p.Thr393Ala) rs150157112
NM_024884.3(L2HGDH):c.1372C>A (p.Gln458Lys)
NM_024884.3(L2HGDH):c.275A>G (p.His92Arg) rs140209047
NM_024884.3(L2HGDH):c.533A>T (p.Tyr178Phe) rs770542189
NM_024884.3(L2HGDH):c.586C>T (p.Arg196Trp) rs368140834
NM_024884.3(L2HGDH):c.627A>G (p.Ala209=) rs564306903
NM_024884.3(L2HGDH):c.70C>T (p.Pro24Ser) rs749417358
NM_024884.3(L2HGDH):c.794G>A (p.Arg265His)
NM_024884.3(L2HGDH):c.845G>A (p.Arg282Gln)
NM_032316.3(NICN1):c.*2157G>A
NM_032316.3(NICN1):c.*2177G>A rs573551723
NM_032316.3(NICN1):c.*2247T>C rs750502117
NM_032316.3(NICN1):c.*2266dup rs886058684
NM_032316.3(NICN1):c.*2283C>G
NM_032316.3(NICN1):c.*2283C>T
NM_032316.3(NICN1):c.*2307G>C rs544461335
NM_032316.3(NICN1):c.*2317A>G rs1553638927
NM_032316.3(NICN1):c.*2325C>T rs753743263
NM_152783.5(D2HGDH):c.*150C>T
NM_152783.5(D2HGDH):c.*171G>A rs886055849
NM_152783.5(D2HGDH):c.*194G>A rs537045408
NM_152783.5(D2HGDH):c.*253C>T
NM_152783.5(D2HGDH):c.*256G>T
NM_152783.5(D2HGDH):c.*284C>T rs148945152
NM_152783.5(D2HGDH):c.*298C>T
NM_152783.5(D2HGDH):c.*2G>A
NM_152783.5(D2HGDH):c.*321A>G
NM_152783.5(D2HGDH):c.*334C>T
NM_152783.5(D2HGDH):c.*405C>T
NM_152783.5(D2HGDH):c.*411dup rs113265004
NM_152783.5(D2HGDH):c.*461C>T
NM_152783.5(D2HGDH):c.*462G>A
NM_152783.5(D2HGDH):c.*499G>A rs886055851
NM_152783.5(D2HGDH):c.*503C>T rs755235230
NM_152783.5(D2HGDH):c.*51C>T
NM_152783.5(D2HGDH):c.*537G>A
NM_152783.5(D2HGDH):c.*542C>T
NM_152783.5(D2HGDH):c.*553G>T rs886055852
NM_152783.5(D2HGDH):c.*597C>T rs187157907
NM_152783.5(D2HGDH):c.*633T>A
NM_152783.5(D2HGDH):c.*669G>A rs868370456
NM_152783.5(D2HGDH):c.*680G>C rs749772854
NM_152783.5(D2HGDH):c.*687C>T
NM_152783.5(D2HGDH):c.*709G>A
NM_152783.5(D2HGDH):c.*713C>T
NM_152783.5(D2HGDH):c.*714G>A
NM_152783.5(D2HGDH):c.*717C>G rs555898820
NM_152783.5(D2HGDH):c.*87C>T rs546752536
NM_152783.5(D2HGDH):c.-102G>A
NM_152783.5(D2HGDH):c.-105G>A
NM_152783.5(D2HGDH):c.-132C>T rs886055846
NM_152783.5(D2HGDH):c.-135C>A
NM_152783.5(D2HGDH):c.-141C>T rs886055845
NM_152783.5(D2HGDH):c.-37C>T rs773503026
NM_152783.5(D2HGDH):c.-45C>T
NM_152783.5(D2HGDH):c.-83C>T
NM_152783.5(D2HGDH):c.-92-2A>T rs1559333243
NM_152783.5(D2HGDH):c.-93+15C>T
NM_152783.5(D2HGDH):c.-98T>G rs886055847
NM_152783.5(D2HGDH):c.1039G>A (p.Ala347Thr)
NM_152783.5(D2HGDH):c.1083G>A (p.Ala361=)
NM_152783.5(D2HGDH):c.1127A>G (p.Gln376Arg) rs1575286670
NM_152783.5(D2HGDH):c.1140+8G>A rs369135156
NM_152783.5(D2HGDH):c.1141-12C>T
NM_152783.5(D2HGDH):c.1184G>A (p.Arg395Gln) rs201921601
NM_152783.5(D2HGDH):c.1199A>G (p.Tyr400Cys) rs138598929
NM_152783.5(D2HGDH):c.1220C>T (p.Pro407Leu)
NM_152783.5(D2HGDH):c.1252C>G (p.Leu418Val)
NM_152783.5(D2HGDH):c.1256G>A (p.Arg419His) rs199908032
NM_152783.5(D2HGDH):c.1257C>T (p.Arg419=)
NM_152783.5(D2HGDH):c.1258G>A (p.Ala420Thr) rs149504235
NM_152783.5(D2HGDH):c.1262G>A (p.Arg421His)
NM_152783.5(D2HGDH):c.1306+15G>A
NM_152783.5(D2HGDH):c.1306+7G>A
NM_152783.5(D2HGDH):c.1353del (p.Ser452fs) rs1559404382
NM_152783.5(D2HGDH):c.1357C>T (p.Leu453Phe) rs145839736
NM_152783.5(D2HGDH):c.1370T>C (p.Leu457Pro) rs1575352566
NM_152783.5(D2HGDH):c.1421C>T (p.Ala474Val) rs369324431
NM_152783.5(D2HGDH):c.1446G>A (p.Lys482=) rs763276027
NM_152783.5(D2HGDH):c.1453G>A (p.Val485Ile) rs375162898
NM_152783.5(D2HGDH):c.1502T>C (p.Leu501Pro) rs747738269
NM_152783.5(D2HGDH):c.1505A>G (p.Lys502Arg) rs751788334
NM_152783.5(D2HGDH):c.1515G>A (p.Leu505=) rs376268002
NM_152783.5(D2HGDH):c.1523A>G (p.Lys508Arg) rs770361030
NM_152783.5(D2HGDH):c.1547C>T (p.Thr516Met) rs762019434
NM_152783.5(D2HGDH):c.319C>T (p.Arg107Trp)
NM_152783.5(D2HGDH):c.324G>A (p.Thr108=)
NM_152783.5(D2HGDH):c.423C>T (p.Pro141=) rs142473303
NM_152783.5(D2HGDH):c.424G>A (p.Val142Ile) rs143231454
NM_152783.5(D2HGDH):c.454C>T (p.Arg152Cys) rs201926349
NM_152783.5(D2HGDH):c.483C>T (p.Ser161=)
NM_152783.5(D2HGDH):c.515G>A (p.Cys172Tyr)
NM_152783.5(D2HGDH):c.517G>A (p.Val173Ile) rs146408017
NM_152783.5(D2HGDH):c.540T>C (p.Tyr180=) rs752626142
NM_152783.5(D2HGDH):c.551G>A (p.Arg184Gln)
NM_152783.5(D2HGDH):c.567G>A (p.Pro189=) rs140447217
NM_152783.5(D2HGDH):c.634C>T (p.Arg212Trp)
NM_152783.5(D2HGDH):c.659A>G (p.His220Arg) rs112424377
NM_152783.5(D2HGDH):c.697G>A (p.Gly233Ser)
NM_152783.5(D2HGDH):c.768C>T (p.Ile256=)
NM_152783.5(D2HGDH):c.854-7G>A rs1575278743
NM_152783.5(D2HGDH):c.854-8C>T rs758727451
NM_152783.5(D2HGDH):c.893C>T (p.Thr298Ile) rs141475702
NM_152783.5(D2HGDH):c.923C>G (p.Ser308Cys) rs886055848
NM_152783.5(D2HGDH):c.963C>T (p.Val321=) rs141524359
NM_152783.5(D2HGDH):c.998-2A>G rs1559380854
NM_176806.3(MOCS2):c.-37T>C rs757181179
Single allele

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