ClinVar Miner

List of variants studied for amino acid or protein metabolism disease with epilepsy by Illumina Clinical Services Laboratory,Illumina

Included ClinVar conditions (24):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 964
Download table as spreadsheet
HGVS dbSNP
NC_000010.11:g.123008921A>T
NC_000010.11:g.123009002G>T
NC_000012.12:g.56005531G>C
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.212G>A (p.Arg71His) rs104894553
NM_000049.3(ASPA):c.237-2A>T rs780936696
NM_000049.3(ASPA):c.509T>C (p.Ile170Thr) rs144321760
NM_000049.3(ASPA):c.693C>T (p.Tyr231=) rs12948217
NM_000049.3(ASPA):c.807G>A (p.Thr269=) rs759106494
NM_000049.3(ASPA):c.905C>T (p.Thr302Met) rs763869261
NM_000049.3(ASPA):c.906G>A (p.Thr302=) rs371394875
NM_000049.4(ASPA):c.634+1G>T rs753871454
NM_000049.4(ASPA):c.693C>A (p.Tyr231Ter) rs12948217
NM_000049.4(ASPA):c.854A>C (p.Glu285Ala) rs28940279
NM_000049.4(ASPA):c.914C>A (p.Ala305Glu) rs28940574
NM_000071.2(CBS):c.*123C>G rs1051319
NM_000071.2(CBS):c.*18G>A rs200259659
NM_000071.2(CBS):c.*299G>A rs12613
NM_000071.2(CBS):c.*34G>A rs374464201
NM_000071.2(CBS):c.*383C>T rs73372352
NM_000071.2(CBS):c.*472C>T rs886057096
NM_000071.2(CBS):c.*544T>C rs706208
NM_000071.2(CBS):c.*565C>T rs706209
NM_000071.2(CBS):c.*566G>A rs111969522
NM_000071.2(CBS):c.*592T>A rs866356348
NM_000071.2(CBS):c.*81G>A rs115406358
NM_000071.2(CBS):c.-136C>T rs543595103
NM_000071.2(CBS):c.-160C>T rs112271970
NM_000071.2(CBS):c.-85+10G>C rs886057102
NM_000071.2(CBS):c.-86_-85+13delinsTGAAGGGTACCGCGA rs1568943606
NM_000071.2(CBS):c.1059G>A (p.Thr353=) rs61735859
NM_000071.2(CBS):c.1065G>A (p.Ala355=) rs748552493
NM_000071.2(CBS):c.1072G>A (p.Val358Met) rs148589243
NM_000071.2(CBS):c.1105C>T (p.Arg369Cys) rs117687681
NM_000071.2(CBS):c.1145+7C>T rs201158177
NM_000071.2(CBS):c.1146-12C>T rs199550738
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.1224-2A>C rs375846341
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.1330G>A (p.Asp444Asn) rs28934891
NM_000071.2(CBS):c.1357G>T (p.Gly453Trp) rs886057099
NM_000071.2(CBS):c.1358+15C>G rs186497436
NM_000071.2(CBS):c.1359-14C>T rs115185587
NM_000071.2(CBS):c.1379C>T (p.Thr460Met) rs752596508
NM_000071.2(CBS):c.1425G>A (p.Pro475=) rs147885808
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.1494G>A (p.Arg498=) rs778800147
NM_000071.2(CBS):c.162G>A (p.Trp54Ter) rs199948079
NM_000071.2(CBS):c.1643G>A (p.Arg548Gln) rs150828989
NM_000071.2(CBS):c.215A>T (p.Lys72Ile) rs192232907
NM_000071.2(CBS):c.301C>G (p.Leu101Val) rs369644531
NM_000071.2(CBS):c.352G>A (p.Val118Met) rs763385546
NM_000071.2(CBS):c.361C>T (p.Arg121Cys) rs775992753
NM_000071.2(CBS):c.373C>T (p.Arg125Trp) rs886057100
NM_000071.2(CBS):c.394C>T (p.Arg132Cys) rs140002610
NM_000071.2(CBS):c.502G>A (p.Val168Met) rs121964970
NM_000071.2(CBS):c.52C>T (p.Arg18Cys) rs201827340
NM_000071.2(CBS):c.532G>A (p.Val178Met) rs370843514
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.636C>T (p.Asn212=) rs2298758
NM_000071.2(CBS):c.664C>T (p.Gln222Ter) rs1568932262
NM_000071.2(CBS):c.786G>A (p.Thr262=) rs551782391
NM_000071.2(CBS):c.829-12C>T rs75616587
NM_000071.2(CBS):c.829-13G>A rs201106576
NM_000071.2(CBS):c.856A>G (p.Ile286Val) rs147040567
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.939G>A (p.Thr313=) rs2228298
NM_000071.2(CBS):c.954+8G>A rs76292057
NM_000071.3(CBS):c.*10C>A rs9978104
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.*681A>G
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.1080C>T (p.Ala360=) rs1801181
NM_000071.3(CBS):c.1146-6C>T
NM_000071.3(CBS):c.304A>C (p.Lys102Gln) rs34040148
NM_000071.3(CBS):c.349A>T (p.Ser117Cys)
NM_000071.3(CBS):c.531+11G>A rs186114513
NM_000071.3(CBS):c.573G>A (p.Thr191=) rs73906420
NM_000071.3(CBS):c.699C>T (p.Tyr233=) rs234706
NM_000071.3(CBS):c.833T>C (p.Ile278Thr) rs5742905
NM_000071.3(CBS):c.887C>G (p.Thr296Arg)
NM_000071.3(CBS):c.919G>A (p.Gly307Ser) rs121964962
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.*257G>A rs111326356
NM_000170.2(GLDC):c.*410G>C rs35834773
NM_000170.2(GLDC):c.*473C>T rs1061407
NM_000170.2(GLDC):c.*505_*506del rs3215922
NM_000170.2(GLDC):c.*540C>T rs7848919
NM_000170.2(GLDC):c.*546C>T rs768890473
NM_000170.2(GLDC):c.*557C>G rs73639311
NM_000170.2(GLDC):c.*5C>G rs764814250
NM_000170.2(GLDC):c.*7G>C rs2228098
NM_000170.2(GLDC):c.-168G>A rs891076552
NM_000170.2(GLDC):c.-173T>G rs1039584725
NM_000170.2(GLDC):c.-186del rs140030144
NM_000170.2(GLDC):c.-21C>T rs1057515609
NM_000170.2(GLDC):c.1000T>C (p.Phe334Leu) rs149133229
NM_000170.2(GLDC):c.1156-7C>G rs150095531
NM_000170.2(GLDC):c.1166C>T (p.Ala389Val) rs121964979
NM_000170.2(GLDC):c.1229G>A (p.Arg410Lys) rs144090917
NM_000170.2(GLDC):c.1331G>A (p.Cys444Tyr) rs142099123
NM_000170.2(GLDC):c.1357G>T (p.Ala453Ser) rs1057515607
NM_000170.2(GLDC):c.1384C>G (p.Leu462Val) rs73400312
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.1453T>C (p.Leu485=) rs760562478
NM_000170.2(GLDC):c.1483-15G>C rs371777070
NM_000170.2(GLDC):c.1508A>C (p.Glu503Ala) rs201890453
NM_000170.2(GLDC):c.150G>A (p.Ser50=) rs768354829
NM_000170.2(GLDC):c.1545G>A (p.Arg515=) rs121964976
NM_000170.2(GLDC):c.1545G>C (p.Arg515Ser) rs121964976
NM_000170.2(GLDC):c.1553C>A (p.Pro518Gln) rs761064507
NM_000170.2(GLDC):c.1580+5G>T rs764790596
NM_000170.2(GLDC):c.1581-5C>T rs184463452
NM_000170.2(GLDC):c.1626A>G (p.Glu542=) rs779537709
NM_000170.2(GLDC):c.1665+7A>T rs759573888
NM_000170.2(GLDC):c.1705G>A (p.Ala569Thr) rs151268759
NM_000170.2(GLDC):c.1707+8G>A rs144666843
NM_000170.2(GLDC):c.1815C>T (p.Leu605=) rs74461075
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.1927-9A>G rs41281773
NM_000170.2(GLDC):c.1940C>T (p.Pro647Leu) rs201135624
NM_000170.2(GLDC):c.2053-5C>G rs140877566
NM_000170.2(GLDC):c.2113G>A (p.Val705Met) rs147275962
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.2203G>T (p.Val735Leu) rs143119940
NM_000170.2(GLDC):c.2230G>A (p.Gly744Arg) rs370061961
NM_000170.2(GLDC):c.2316-13dup rs3215923
NM_000170.2(GLDC):c.2380G>A (p.Ala794Thr) rs141933811
NM_000170.2(GLDC):c.2487C>T (p.Ala829=) rs141806715
NM_000170.2(GLDC):c.2490G>T (p.Thr830=) rs145407593
NM_000170.2(GLDC):c.249G>A (p.Gly83=) rs12341698
NM_000170.2(GLDC):c.2518A>G (p.Met840Val) rs781693346
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.2650A>G (p.Arg884Gly) rs1057515606
NM_000170.2(GLDC):c.2683A>G (p.Met895Val) rs141152043
NM_000170.2(GLDC):c.270G>C (p.Leu90Phe) rs747736821
NM_000170.2(GLDC):c.2730G>A (p.Ser910=) rs144937031
NM_000170.2(GLDC):c.2748G>A (p.Leu916=) rs139982267
NM_000170.2(GLDC):c.2852C>A (p.Ser951Tyr) rs147472391
NM_000170.2(GLDC):c.2919+3A>G rs73639325
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.2947T>C (p.Trp983Arg) rs1057515605
NM_000170.2(GLDC):c.2955G>A (p.Thr985=) rs142004524
NM_000170.2(GLDC):c.2964G>A (p.Arg988=) rs146045718
NM_000170.2(GLDC):c.2988G>C (p.Gln996His) rs138640017
NM_000170.2(GLDC):c.319A>G (p.Met107Val) rs138454333
NM_000170.2(GLDC):c.438G>A (p.Thr146=) rs13289273
NM_000170.2(GLDC):c.470+11T>C rs142534180
NM_000170.2(GLDC):c.498T>C (p.Pro166=) rs150193069
NM_000170.2(GLDC):c.501G>A (p.Glu167=) rs35374927
NM_000170.2(GLDC):c.52G>T (p.Gly18Cys) rs535143891
NM_000170.2(GLDC):c.63C>A (p.Arg21=) rs372141443
NM_000170.2(GLDC):c.660C>T (p.Leu220=) rs2228095
NM_000170.2(GLDC):c.666T>C (p.Asp222=) rs12004164
NM_000170.2(GLDC):c.671G>A (p.Arg224His) rs28617412
NM_000170.2(GLDC):c.678C>T (p.His226=) rs12006003
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.871T>G (p.Cys291Gly) rs141014950
NM_000170.2(GLDC):c.936C>T (p.Ile312=) rs79057118
NM_000170.3(GLDC):c.*229C>G
NM_000170.3(GLDC):c.*236G>T
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.1402-14T>G
NM_000170.3(GLDC):c.1530G>A (p.Gly510=)
NM_000170.3(GLDC):c.1554G>C (p.Pro518=) rs377219563
NM_000170.3(GLDC):c.1830G>A (p.Gln610=)
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.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.2328C>T (p.Leu776=) rs149600380
NM_000170.3(GLDC):c.2402G>A (p.Ser801Asn)
NM_000170.3(GLDC):c.2570-10T>C
NM_000170.3(GLDC):c.2742A>T (p.Ala914=)
NM_000170.3(GLDC):c.2874C>T (p.Ser958=) rs146339375
NM_000170.3(GLDC):c.2920-8C>T rs138786708
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.886C>A (p.Leu296Ile)
NM_000170.3(GLDC):c.96G>T (p.Pro32=) rs1430526811
NM_000277.3(PAH):c.*144A>G rs375319584
NM_000277.3(PAH):c.*187G>A rs1801153
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.-71A>C rs2280615
NM_000277.3(PAH):c.-73C>G rs886048891
NM_000277.3(PAH):c.-81C>T rs7954004
NM_000277.3(PAH):c.1045T>C (p.Ser349Pro) rs62508646
NM_000277.3(PAH):c.1055del (p.Gly352fs) rs62516094
NM_000277.3(PAH):c.1066-3C>T rs62507344
NM_000277.3(PAH):c.1066-9G>A
NM_000277.3(PAH):c.1089G>C (p.Lys363Asn) rs63329263
NM_000277.3(PAH):c.1114A>T (p.Thr372Ser) rs62517163
NM_000277.3(PAH):c.1139C>T (p.Thr380Met) rs62642937
NM_000277.3(PAH):c.1161C>T (p.Tyr387=) rs149595475
NM_000277.3(PAH):c.1169A>G (p.Glu390Gly) rs5030856
NM_000277.3(PAH):c.117C>G (p.Phe39Leu) rs62642926
NM_000277.3(PAH):c.1208C>T (p.Ala403Val) rs5030857
NM_000277.3(PAH):c.1222C>T (p.Arg408Trp) rs5030858
NM_000277.3(PAH):c.1242C>T (p.Tyr414=) rs1801152
NM_000277.3(PAH):c.1243G>A (p.Asp415Asn) rs62644499
NM_000277.3(PAH):c.125_127AAG[2] (p.Glu44del) rs199475628
NM_000277.3(PAH):c.1278T>C (p.Asn426=) rs59326968
NM_000277.3(PAH):c.1315+1G>A rs5030861
NM_000277.3(PAH):c.158G>A (p.Arg53His) rs118092776
NM_000277.3(PAH):c.165T>G (p.Phe55Leu) rs199475598
NM_000277.3(PAH):c.169-13T>G rs62507341
NM_000277.3(PAH):c.23A>C (p.Asn8Thr)
NM_000277.3(PAH):c.261C>A (p.Ser87Arg) rs62516151
NM_000277.3(PAH):c.280A>G (p.Ile94Val)
NM_000277.3(PAH):c.299A>G (p.His100Arg) rs148393887
NM_000277.3(PAH):c.30C>G (p.Gly10=) rs1801145
NM_000277.3(PAH):c.311C>A (p.Ala104Asp) rs62642929
NM_000277.3(PAH):c.350C>T (p.Thr117Ile) rs281865439
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.434A>T (p.Asp145Val) rs140175796
NM_000277.3(PAH):c.44T>A (p.Leu15His)
NM_000277.3(PAH):c.506G>A (p.Arg169His) rs199475679
NM_000277.3(PAH):c.609C>T (p.Cys203=) rs1801147
NM_000277.3(PAH):c.638T>C (p.Leu213Pro) rs62516109
NM_000277.3(PAH):c.707-7A>T rs62508624
NM_000277.3(PAH):c.71A>G (p.Tyr24Cys) rs539994406
NM_000277.3(PAH):c.727C>T (p.Arg243Ter) rs5030846
NM_000277.3(PAH):c.734T>C (p.Val245Ala) rs76212747
NM_000277.3(PAH):c.735G>A (p.Val245=) rs1042503
NM_000277.3(PAH):c.772C>T (p.Leu258=) rs75065106
NM_000277.3(PAH):c.786C>T (p.Val262=)
NM_000277.3(PAH):c.805A>C (p.Ile269Leu) rs62508692
NM_000277.3(PAH):c.896T>G (p.Phe299Cys) rs62642933
NM_000277.3(PAH):c.897T>C (p.Phe299=) rs886048890
NM_000277.3(PAH):c.898G>T (p.Ala300Ser) rs5030853
NM_000277.3(PAH):c.912G>A (p.Gln304=) rs199475583
NM_000277.3(PAH):c.963C>T (p.Leu321=) rs61747292
NM_000456.2(SUOX):c.-322C>T rs886049678
NM_000456.2(SUOX):c.-326A>T rs143315090
NM_000481.3(AMT):c.101G>A (p.Arg34His) rs138259479
NM_000481.3(AMT):c.697-3C>T rs373703503
NM_000481.3(AMT):c.91-9C>T rs761235679
NM_000481.4(AMT):c.*130G>T rs143731179
NM_000481.4(AMT):c.*163G>C rs200568631
NM_000481.4(AMT):c.*407T>C rs761498529
NM_000481.4(AMT):c.*416C>T
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.*696C>T rs10640
NM_000481.4(AMT):c.-1G>A rs143841175
NM_000481.4(AMT):c.1112G>A (p.Arg371His) rs147006017
NM_000481.4(AMT):c.1136A>C (p.Glu379Ala)
NM_000481.4(AMT):c.1145G>A (p.Arg382Gln) rs141246107
NM_000481.4(AMT):c.1190C>A (p.Thr397Lys) rs886058683
NM_000481.4(AMT):c.1199A>G (p.Tyr400Cys)
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.194A>G (p.His65Arg)
NM_000481.4(AMT):c.195C>T (p.His65=) rs145243292
NM_000481.4(AMT):c.339+3G>A
NM_000481.4(AMT):c.354G>A (p.Leu118=) rs145194293
NM_000481.4(AMT):c.403A>G (p.Thr135Ala)
NM_000481.4(AMT):c.471+12_471+13del rs370772505
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.589G>C (p.Asp197His) rs200550585
NM_000481.4(AMT):c.631G>A (p.Glu211Lys) rs116192290
NM_000481.4(AMT):c.635T>C (p.Val212Ala) rs201141125
NM_000481.4(AMT):c.750C>T (p.Asn250=)
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.858C>A (p.Gly286=) rs367726589
NM_000481.4(AMT):c.86C>T (p.Ala29Val)
NM_000481.4(AMT):c.898A>G (p.Met300Val) rs144971200
NM_000481.4(AMT):c.954G>A (p.Arg318=) rs11715915
NM_000481.4(AMT):c.961G>A (p.Val321Met) rs149457059
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.-107C>T
NM_001032386.2(SUOX):c.-11+1604T>G rs534066397
NM_001032386.2(SUOX):c.-11+1613C>T rs139170103
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.-32C>T rs705703
NM_001032386.2(SUOX):c.-58C>A rs886049679
NM_001032386.2(SUOX):c.-85G>A rs773650494
NM_001032386.2(SUOX):c.1050T>C (p.Tyr350=) rs184819190
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.1281G>C (p.Ser427=) rs773115
NM_001032386.2(SUOX):c.1281G>T (p.Ser427=) rs773115
NM_001032386.2(SUOX):c.1282G>A (p.Ala428Thr) rs553699159
NM_001032386.2(SUOX):c.1297C>T (p.Arg433Trp) rs61733163
NM_001032386.2(SUOX):c.1358G>A (p.Gly453Asp) rs76537761
NM_001032386.2(SUOX):c.1586G>A (p.Arg529Gln) rs754321646
NM_001032386.2(SUOX):c.1612C>T (p.Arg538Cys)
NM_001032386.2(SUOX):c.192C>T (p.Leu64=) rs577360771
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.629C>T (p.Pro210Leu) rs141735896
NM_001032386.2(SUOX):c.713C>T (p.Pro238Leu)
NM_001032386.2(SUOX):c.889C>T (p.Arg297Trp) rs767916239
NM_001032386.2(SUOX):c.89G>C (p.Cys30Ser)
NM_001032386.2(SUOX):c.983C>T (p.Thr328Ile) rs540792428
NM_001178008.2(CBS):c.-85+298T>C
NM_001321336.1(SPATA22):c.-73-19863del rs1567614635
NM_001354304.2(PAH):c.-95-129G>A rs886048892
NM_001354304.2(PAH):c.-95-137C>G rs886048893
NM_001354304.2(PAH):c.-95-360del rs113191080
NM_001354304.2(PAH):c.-95-385_-95-382del rs147576673
NM_001354304.2(PAH):c.-95-52C>T rs62517177
NM_001358530.2(MOCS1):c.*1002C>T rs115706925
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.*1113T>G rs3828937
NM_001358530.2(MOCS1):c.*1117A>C rs886061381
NM_001358530.2(MOCS1):c.*1136A>C rs60326448
NM_001358530.2(MOCS1):c.*120C>T
NM_001358530.2(MOCS1):c.*1305C>T rs7744483
NM_001358530.2(MOCS1):c.*1307A>G
NM_001358530.2(MOCS1):c.*1334A>C rs3749999
NM_001358530.2(MOCS1):c.*1341T>A
NM_001358530.2(MOCS1):c.*1348_*1351dup rs397953334
NM_001358530.2(MOCS1):c.*135T>G rs370974142
NM_001358530.2(MOCS1):c.*1389dup rs144859841
NM_001358530.2(MOCS1):c.*1405G>C rs3749998
NM_001358530.2(MOCS1):c.*1424C>G rs151159237
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.*1629G>A
NM_001358530.2(MOCS1):c.*1629G>T rs3793137
NM_001358530.2(MOCS1):c.*1660_*1663ATAG[1] rs112059918
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.*1775_*1778dup rs112997952
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.*1893G>C rs3008816
NM_001358530.2(MOCS1):c.*1909A>G rs73732316
NM_001358530.2(MOCS1):c.*1911C>A
NM_001358530.2(MOCS1):c.*1928C>G rs73414848
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.*327G>A rs112129067
NM_001358530.2(MOCS1):c.*378G>A rs11968529
NM_001358530.2(MOCS1):c.*400C>T rs764443066
NM_001358530.2(MOCS1):c.*423C>A rs886061387
NM_001358530.2(MOCS1):c.*451C>T rs41273136
NM_001358530.2(MOCS1):c.*477C>T rs184315150
NM_001358530.2(MOCS1):c.*523T>C
NM_001358530.2(MOCS1):c.*523_*527TCCTG[4] rs138907488
NM_001358530.2(MOCS1):c.*578C>T rs147395035
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.*734C>G rs1063171
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.*824C>G rs11968491
NM_001358530.2(MOCS1):c.*826A>C
NM_001358530.2(MOCS1):c.*84A>G rs752606397
NM_001358530.2(MOCS1):c.*888C>T
NM_001358530.2(MOCS1):c.*908_*911AATC[3] rs3839624
NM_001358530.2(MOCS1):c.*908_*911AATC[5] rs3839624
NM_001358530.2(MOCS1):c.*987C>T rs7758412
NM_001358530.2(MOCS1):c.*990T>C rs192141515
NM_001358530.2(MOCS1):c.1015C>T (p.Arg339Trp) rs148579886
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.1132C>G (p.Arg378Gly)
NM_001358530.2(MOCS1):c.1150G>A (p.Glu384Lys) rs751603831
NM_001358530.2(MOCS1):c.1169C>A (p.Pro390His) rs11969769
NM_001358530.2(MOCS1):c.1211C>T (p.Pro404Leu) rs570962724
NM_001358530.2(MOCS1):c.1212G>C (p.Pro404=) rs11969233
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.124-216A>G rs3008822
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.1316G>A (p.Arg439Gln) rs41273142
NM_001358530.2(MOCS1):c.1355G>T (p.Arg452Leu) rs11969206
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.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.1715G>A (p.Arg572His) rs41273140
NM_001358530.2(MOCS1):c.1752G>A (p.Arg584=) rs77225343
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.1800C>T (p.Ala600=) rs41273138
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.330C>T (p.Leu110=) rs61746375
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+10T>A rs34757428
NM_001358530.2(MOCS1):c.583+12T>C
NM_001358530.2(MOCS1):c.583+6C>T rs111409017
NM_001358530.2(MOCS1):c.583+7G>A
NM_001358530.2(MOCS1):c.645+9G>C rs73732319
NM_001358530.2(MOCS1):c.698C>T (p.Ala233Val) rs35825585
NM_001358530.2(MOCS1):c.707C>T (p.Thr236Ile)
NM_001358530.2(MOCS1):c.716T>A (p.Leu239His) rs7762875
NM_001358530.2(MOCS1):c.729G>A (p.Val243=) rs886061390
NM_001358530.2(MOCS1):c.758-9C>T rs368402544
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.*109G>A rs34955007
NM_001609.3(ACADSB):c.*1195C>A rs886046787
NM_001609.3(ACADSB):c.*1200A>T rs11248371
NM_001609.3(ACADSB):c.*1202G>A rs181209320
NM_001609.3(ACADSB):c.*1337A>G rs190353878
NM_001609.3(ACADSB):c.*1445A>T rs182952282
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.*1826C>T rs568834686
NM_001609.3(ACADSB):c.*1840T>G rs886046792
NM_001609.3(ACADSB):c.*1868C>G rs10902868
NM_001609.3(ACADSB):c.*1907C>T rs886046793
NM_001609.3(ACADSB):c.*1920G>T rs141894735
NM_001609.3(ACADSB):c.*1942C>T rs886046794
NM_001609.3(ACADSB):c.*1972C>A rs187582823
NM_001609.3(ACADSB):c.*2060G>A rs886046795
NM_001609.3(ACADSB):c.*206A>C rs138299400
NM_001609.3(ACADSB):c.*2085C>T rs766980366
NM_001609.3(ACADSB):c.*2113G>A rs7922412
NM_001609.3(ACADSB):c.*2174A>G rs577027224
NM_001609.3(ACADSB):c.*2175A>C rs7909871
NM_001609.3(ACADSB):c.*2224A>C rs192771453
NM_001609.3(ACADSB):c.*2227A>G rs149926796
NM_001609.3(ACADSB):c.*2329A>G rs543916865
NM_001609.3(ACADSB):c.*2331C>G rs7079265
NM_001609.3(ACADSB):c.*2339G>A rs886046796
NM_001609.3(ACADSB):c.*2490T>C rs7914164
NM_001609.3(ACADSB):c.*2529G>A rs182831006
NM_001609.3(ACADSB):c.*2548G>T rs545467732
NM_001609.3(ACADSB):c.*262C>T rs12248515
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.*2957T>A rs115456304
NM_001609.3(ACADSB):c.*30G>A rs141805585
NM_001609.3(ACADSB):c.*3130A>G rs41291348
NM_001609.3(ACADSB):c.*3234C>G rs3763738
NM_001609.3(ACADSB):c.*323G>A rs886046785
NM_001609.3(ACADSB):c.*3299C>G rs116019965
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.*358T>C rs184796725
NM_001609.3(ACADSB):c.*3597G>A rs755235760
NM_001609.3(ACADSB):c.*3619T>C rs886046802
NM_001609.3(ACADSB):c.*3819A>G rs3980942
NM_001609.3(ACADSB):c.*3907C>G rs185346880
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.*4135G>A rs74159956
NM_001609.3(ACADSB):c.*4177G>A rs886046806
NM_001609.3(ACADSB):c.*4426T>C rs7732
NM_001609.3(ACADSB):c.*4467A>T rs6838
NM_001609.3(ACADSB):c.*473G>C rs189484621
NM_001609.3(ACADSB):c.*497C>T rs12248648
NM_001609.3(ACADSB):c.*545G>A rs1140593
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.*78C>T rs117078411
NM_001609.3(ACADSB):c.*973A>G rs886046786
NM_001609.3(ACADSB):c.-102G>C rs886046775
NM_001609.3(ACADSB):c.-102dup rs201117089
NM_001609.3(ACADSB):c.-107G>A rs190149746
NM_001609.3(ACADSB):c.-123G>A rs72839755
NM_001609.3(ACADSB):c.-22A>G rs563472823
NM_001609.3(ACADSB):c.-39G>A rs886046776
NM_001609.3(ACADSB):c.-87G>T rs150850221
NM_001609.3(ACADSB):c.-89G>T rs141443308
NM_001609.3(ACADSB):c.-97T>C rs148327034
NM_001609.3(ACADSB):c.1014C>T (p.His338=) rs57339164
NM_001609.3(ACADSB):c.1062T>C (p.Ala354=) rs886046780
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.1156A>G (p.Ile386Val) rs770827167
NM_001609.3(ACADSB):c.1159G>A (p.Glu387Lys) rs188094280
NM_001609.3(ACADSB):c.1170G>T (p.Gly390=) rs886046781
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.168A>G (p.Thr56=) rs34221067
NM_001609.3(ACADSB):c.303+1G>A rs147936696
NM_001609.3(ACADSB):c.370G>C (p.Val124Leu) rs375217368
NM_001609.3(ACADSB):c.38G>A (p.Arg13Lys) rs12263012
NM_001609.3(ACADSB):c.429C>T (p.Asn143=) rs886046777
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.639C>T (p.His213=) rs1140591
NM_001609.3(ACADSB):c.681+14C>T rs748185849
NM_001609.3(ACADSB):c.682-7T>C rs886046779
NM_001609.3(ACADSB):c.786G>A (p.Pro262=) rs76111609
NM_001609.3(ACADSB):c.795C>T (p.Phe265=) rs150619709
NM_001609.3(ACADSB):c.92A>G (p.His31Arg) rs57321698
NM_001609.3(ACADSB):c.946A>G (p.Ile316Val) rs1131430
NM_001609.3(ACADSB):c.95T>A (p.Val32Asp) rs751722805
NM_001609.4(ACADSB):c.*1326A>G
NM_001609.4(ACADSB):c.*133C>G
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.*2086G>A
NM_001609.4(ACADSB):c.*2224A>G
NM_001609.4(ACADSB):c.*2581A>C
NM_001609.4(ACADSB):c.*263G>A
NM_001609.4(ACADSB):c.*2670C>T
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.*3517A>G
NM_001609.4(ACADSB):c.*3736G>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.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+20_1228+21del rs11307362
NM_001609.4(ACADSB):c.1228+21del rs11307362
NM_001609.4(ACADSB):c.1229-15T>G
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_002203.4(ITGA2):c.*1252G>A rs1042324
NM_002203.4(ITGA2):c.*1764del rs3212655
NM_002203.4(ITGA2):c.*2041del rs35863692
NM_002203.4(ITGA2):c.*2505_*2508CAAA[3] rs72277253
NM_002203.4(ITGA2):c.*2570C>A rs1900182
NM_002203.4(ITGA2):c.*2570C>T rs1900182
NM_002203.4(ITGA2):c.*2574C>G rs75427194
NM_002203.4(ITGA2):c.*2939C>T rs7700416
NM_002203.4(ITGA2):c.*2940G>A rs6898333
NM_002203.4(ITGA2):c.*2999A>G rs6880055
NM_002203.4(ITGA2):c.*3026A>G rs7719848
NM_002203.4(ITGA2):c.*3164G>A rs7737412
NM_002203.4(ITGA2):c.*3385_*3386insGAAA rs59915734
NM_002203.4(ITGA2):c.*3763_*3764del rs145759303
NM_002203.4(ITGA2):c.*3813G>A
NM_002203.4(ITGA2):c.*3918G>C rs10471829
NM_002203.4(ITGA2):c.*3986A>C rs7725246
NM_002203.4(ITGA2):c.*4045_*4047AGT[1] rs71727762
NM_002203.4(ITGA2):c.*4098C>G rs10471830
NM_002203.4(ITGA2):c.*475_*477del rs199677547
NM_002203.4(ITGA2):c.*721A>C rs1109527
NM_002203.4(ITGA2):c.*760_*761insTTAT rs3212652
NM_002203.4(ITGA2):c.*894C>T rs1109526
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.*118G>A rs11740
NM_003748.4(ALDH4A1):c.*1197C>G rs7419135
NM_003748.4(ALDH4A1):c.*1198A>G rs7366541
NM_003748.4(ALDH4A1):c.*1199A>C rs886045701
NM_003748.4(ALDH4A1):c.*122T>C rs2230712
NM_003748.4(ALDH4A1):c.*1239G>C rs1138328
NM_003748.4(ALDH4A1):c.*1275A>C rs1138333
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.*35C>T rs2230710
NM_003748.4(ALDH4A1):c.*367C>T
NM_003748.4(ALDH4A1):c.*444T>C rs9117
NM_003748.4(ALDH4A1):c.*464G>A rs536186688
NM_003748.4(ALDH4A1):c.*502A>G rs1802783
NM_003748.4(ALDH4A1):c.*646G>A rs567528405
NM_003748.4(ALDH4A1):c.*690G>A rs886045704
NM_003748.4(ALDH4A1):c.*702C>T rs3202002
NM_003748.4(ALDH4A1):c.*711C>G
NM_003748.4(ALDH4A1):c.*712C>T rs14311
NM_003748.4(ALDH4A1):c.*719C>T rs778905588
NM_003748.4(ALDH4A1):c.*763T>C rs1138267
NM_003748.4(ALDH4A1):c.*776C>T
NM_003748.4(ALDH4A1):c.*900G>C
NM_003748.4(ALDH4A1):c.*903C>T rs148846466
NM_003748.4(ALDH4A1):c.*921G>A rs1138269
NM_003748.4(ALDH4A1):c.*925C>T rs1140477
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.-4C>A rs9426797
NM_003748.4(ALDH4A1):c.-7A>G rs9426679
NM_003748.4(ALDH4A1):c.102C>T (p.Asn34=) rs148778436
NM_003748.4(ALDH4A1):c.1050G>C (p.Ala350=) rs2230705
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>A (p.Pro362=) rs41310410
NM_003748.4(ALDH4A1):c.1086G>C (p.Pro362=) rs41310410
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.1162T>C (p.Phe388Leu) rs41273175
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.1221A>G (p.Ala407=) rs2230706
NM_003748.4(ALDH4A1):c.1230A>G (p.Ser410=) rs7550938
NM_003748.4(ALDH4A1):c.1251C>T (p.Ala417=) rs2230707
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.1380T>C (p.Asp460=) rs2230708
NM_003748.4(ALDH4A1):c.1381G>A (p.Asp461Asn) rs377270740
NM_003748.4(ALDH4A1):c.1408G>A (p.Val470Ile) rs2230709
NM_003748.4(ALDH4A1):c.1417A>G (p.Thr473Ala) rs6695033
NM_003748.4(ALDH4A1):c.1460+15C>T
NM_003748.4(ALDH4A1):c.150G>A (p.Leu50=)
NM_003748.4(ALDH4A1):c.1548C>T (p.Gly516=) rs61749348
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.1631C>T (p.Pro544Leu) rs72953172
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.198C>T (p.Cys66=)
NM_003748.4(ALDH4A1):c.21del (p.Leu8fs) rs387906314
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.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.433G>A (p.Ala145Thr) rs113846237
NM_003748.4(ALDH4A1):c.446T>A (p.Val149Glu) rs886045706
NM_003748.4(ALDH4A1):c.47C>T (p.Pro16Leu) rs146450609
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.584C>T (p.Thr195Met) rs72936434
NM_003748.4(ALDH4A1):c.603+14G>A
NM_003748.4(ALDH4A1):c.648C>T (p.Gly216=) rs139340058
NM_003748.4(ALDH4A1):c.678+3G>A rs138788183
NM_003748.4(ALDH4A1):c.740G>T (p.Arg247Leu)
NM_003748.4(ALDH4A1):c.744C>T (p.Ile248=) rs60427141
NM_003748.4(ALDH4A1):c.800C>A (p.Pro267His) rs141843191
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_004531.5(MOCS2):c.*1011G>A
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.*1544C>A
NM_004531.5(MOCS2):c.*1545G>A
NM_004531.5(MOCS2):c.*1658G>A
NM_004531.5(MOCS2):c.*1673T>C
NM_004531.5(MOCS2):c.*171G>C rs191465075
NM_004531.5(MOCS2):c.*1872C>T
NM_004531.5(MOCS2):c.*1913G>A
NM_004531.5(MOCS2):c.*1918A>G
NM_004531.5(MOCS2):c.*2032G>A
NM_004531.5(MOCS2):c.*2045G>A
NM_004531.5(MOCS2):c.*2158C>T
NM_004531.5(MOCS2):c.*2357T>C
NM_004531.5(MOCS2):c.*2415C>T
NM_004531.5(MOCS2):c.*2582A>C
NM_004531.5(MOCS2):c.*2609G>C
NM_004531.5(MOCS2):c.*2651G>T
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.*2900A>G
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.*413del rs3839261
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.*566C>T
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.*735G>A
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.-622G>A rs373522800
NM_004531.5(MOCS2):c.-635G>A rs572637154
NM_004531.5(MOCS2):c.-642C>T rs886060696
NM_004531.5(MOCS2):c.-664C>A rs764809636
NM_004531.5(MOCS2):c.-71G>A rs773035025
NM_004531.5(MOCS2):c.104A>G (p.Asp35Gly)
NM_004531.5(MOCS2):c.148A>G (p.Thr50Ala) rs2233213
NM_004531.5(MOCS2):c.229A>G (p.Thr77Ala)
NM_004531.5(MOCS2):c.255A>G (p.Lys85=) rs2233216
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.367C>T (p.His123Tyr) rs2233218
NM_004531.5(MOCS2):c.415G>A (p.Val139Met) rs199581021
NM_004531.5(MOCS2):c.99-8_99-5del rs779872271
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_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.*254G>A rs6713318
NM_152783.5(D2HGDH):c.*256G>T
NM_152783.5(D2HGDH):c.*266G>A rs145823152
NM_152783.5(D2HGDH):c.*26C>T rs141211991
NM_152783.5(D2HGDH):c.*27C>T rs150707660
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.*40C>T
NM_152783.5(D2HGDH):c.*410G>A rs568821876
NM_152783.5(D2HGDH):c.*411dup rs113265004
NM_152783.5(D2HGDH):c.*427G>A rs142873084
NM_152783.5(D2HGDH):c.*433G>T
NM_152783.5(D2HGDH):c.*449C>T rs4234096
NM_152783.5(D2HGDH):c.*461C>T
NM_152783.5(D2HGDH):c.*462G>A
NM_152783.5(D2HGDH):c.*474C>T rs570372209
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.*661C>T rs113372064
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.*688G>A rs6716743
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.*778C>T rs6746151
NM_152783.5(D2HGDH):c.*801A>G rs35671465
NM_152783.5(D2HGDH):c.*87C>T rs546752536
NM_152783.5(D2HGDH):c.*93T>C rs11552660
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.-91C>G rs62191976
NM_152783.5(D2HGDH):c.-92-2A>T rs1559333243
NM_152783.5(D2HGDH):c.-92-4C>G rs146482048
NM_152783.5(D2HGDH):c.-93+15C>T
NM_152783.5(D2HGDH):c.-98T>G rs886055847
NM_152783.5(D2HGDH):c.-99A>G rs7370843
NM_152783.5(D2HGDH):c.1012G>A (p.Val338Ile) rs1106639
NM_152783.5(D2HGDH):c.1063G>A (p.Gly355Ser) rs139321130
NM_152783.5(D2HGDH):c.1066C>T (p.His356Tyr) rs144668507
NM_152783.5(D2HGDH):c.1082C>T (p.Ala361Val) rs1105273
NM_152783.5(D2HGDH):c.1083G>A (p.Ala361=)
NM_152783.5(D2HGDH):c.1107T>C (p.Asp369=) rs141343442
NM_152783.5(D2HGDH):c.1140+8G>A rs369135156
NM_152783.5(D2HGDH):c.1141-12C>T
NM_152783.5(D2HGDH):c.1183C>T (p.Arg395Trp) rs149628174
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.1272G>A (p.Pro424=) rs375565047
NM_152783.5(D2HGDH):c.1276G>A (p.Ala426Thr) rs146578303
NM_152783.5(D2HGDH):c.1306+15G>A
NM_152783.5(D2HGDH):c.1306+7G>A
NM_152783.5(D2HGDH):c.1307-15C>T
NM_152783.5(D2HGDH):c.1357C>T (p.Leu453Phe) rs145839736
NM_152783.5(D2HGDH):c.1377C>A (p.Pro459=) rs143940595
NM_152783.5(D2HGDH):c.1386C>T (p.Tyr462=) rs201294258
NM_152783.5(D2HGDH):c.1395G>A (p.Thr465=) rs111670322
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.1476G>A (p.Pro492=) rs140096524
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.164G>A (p.Arg55Gln) rs77940364
NM_152783.5(D2HGDH):c.292+9G>A rs148813816
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.43C>G (p.Arg15Gly) rs4675887
NM_152783.5(D2HGDH):c.454C>T (p.Arg152Cys) rs201926349
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.685-9T>C rs4234097
NM_152783.5(D2HGDH):c.697G>A (p.Gly233Ser)
NM_152783.5(D2HGDH):c.720C>A (p.Thr240=) rs147210645
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.990G>A (p.Pro330=) rs142073267
NM_152783.5(D2HGDH):c.998-2A>G rs1559380854
NM_176806.3(MOCS2):c.-37T>C rs757181179

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