ClinVar Miner

List of variants studied for amino acid or protein metabolism disease with epilepsy by Invitae

Included ClinVar conditions (24):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 1176
Download table as spreadsheet
HGVS dbSNP
NC_000001.10:g.(?_19199319)_(19204126_?)dup
NC_000002.12:g.(?_241735205)_(241767989_?)dup
NC_000002.12:g.(?_241741010)_(241767989_?)del
NC_000003.12:g.(?_49419700)_(49419798_?)dup
NC_000003.12:g.(?_49421482)_(49424348_?)del
NC_000009.11:g.(?_6565334)_(6565449_?)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_000009.12:g.(?_6532997)_(6645519_?)del
NC_000009.12:g.(?_6533007)_(6550924_?)del
NC_000009.12:g.(?_6533007)_(6610366_?)del
NC_000009.12:g.(?_6550783)_(6620339_?)del
NC_000009.12:g.(?_6550793)_(6610366_?)del
NC_000009.12:g.(?_6558539)_(6558704_?)del
NC_000009.12:g.(?_6558539)_(6565449_?)del
NC_000009.12:g.(?_6558539)_(6645519_?)del
NC_000009.12:g.(?_6558549)_(6645509_?)del
NC_000009.12:g.(?_6565334)_(6610376_?)del
NC_000009.12:g.(?_6587121)_(6606689_?)del
NC_000009.12:g.(?_6587121)_(6645519_?)del
NC_000009.12:g.(?_6587131)_(6606679_?)del
NC_000009.12:g.(?_6592841)_(6620329_?)del
NC_000009.12:g.(?_6594994)_(6620339_?)del
NC_000009.12:g.(?_6595004)_(6620329_?)del
NC_000009.12:g.(?_6604568)_(6645519_?)del
NC_000009.12:g.(?_6606572)_(6606689_?)del
NC_000009.12:g.(?_6606582)_(6606679_?)del
NC_000009.12:g.(?_6610172)_(6645519_?)del
NC_000009.12:g.(?_6620164)_(6620339_?)del
NC_000009.12:g.(?_6620174)_(6620329_?)del
NC_000009.12:g.(?_6620174)_(6645509_?)del
NC_000009.12:g.(?_6644594)_(6645519_?)del
NC_000009.12:g.(?_6644604)_(6645509_?)del
NC_000010.11:g.(?_123034356)_(123041379_?)del
NC_000012.11:g.(?_103248894)_(103249130_?)del
NC_000012.12:g.(?_102854491)_(102855289_?)del
NC_000012.12:g.(?_102855126)_(102855342_?)del
NC_000012.12:g.(?_102866576)_(102866683_?)del
NC_000012.12:g.(?_102866586)_(102866673_?)del
NC_000012.12:g.(?_102894715)_(102894938_?)del
NC_000012.12:g.(?_102894725)_(102894931_?)del
NC_000012.12:g.(?_102917061)_(102917140_?)del
NC_000014.8:g.(?_67243162)_(67391029_?)del
NC_000014.8:g.(?_67243182)_(67432042_?)del
NC_000014.8:g.(?_67346637)_(67391029_?)dup
NC_000014.8:g.(?_67610059)_(67610186_?)dup
NC_000014.9:g.(?_50267733)_(50269350_?)del
NC_000014.9:g.(?_65957717)_(66508591_?)dup
NC_000014.9:g.(?_66508508)_(66508611_?)del
NC_000014.9:g.(?_66508508)_(66681205_?)del
NC_000014.9:g.(?_66776444)_(66776541_?)del
NC_000014.9:g.(?_66879919)_(66880053_?)del
NC_000014.9:g.(?_66915983)_(66916089_?)dup
NC_000014.9:g.(?_66965171)_(67100931_?)dup
NC_000014.9:g.(?_67058629)_(67180957_?)dup
NC_000014.9:g.(?_67122236)_(67122397_?)del
NC_000016.10:g.(?_81082846)_(81096298_?)del
NC_000017.11:g.(?_3489225)_(3499098_?)del
NC_000017.11:g.(?_3489235)_(3729555_?)del
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_000021.9:g.(?_43058125)_(43065715_?)del
NC_000021.9:g.(?_43060421)_(43062415_?)dup
NC_000022.10:g.(?_18900668)_(18923820_?)dup
NC_000022.11:g.(?_18906375)_(18986158_?)del
NC_000022.11:g.(?_18913155)_(18936307_?)del
NC_000022.11:g.(?_18922797)_(18936307_?)del
NM_000049.3(ASPA):c.212G>A (p.Arg71His) rs104894553
NM_000049.3(ASPA):c.245T>C (p.Met82Thr) rs80099330
NM_000049.3(ASPA):c.427A>G (p.Ile143Val) rs199565861
NM_000049.3(ASPA):c.503G>A (p.Arg168His) rs770706390
NM_000049.3(ASPA):c.541C>A (p.Pro181Thr) rs786204572
NM_000049.3(ASPA):c.550C>T (p.Gln184Ter) rs1597439028
NM_000049.3(ASPA):c.693C>T (p.Tyr231=) rs12948217
NM_000049.3(ASPA):c.788T>C (p.Leu263Ser) rs755061005
NM_000049.3(ASPA):c.79G>A (p.Gly27Arg) rs766328537
NM_000049.3(ASPA):c.831C>T (p.Thr277=) rs78677072
NM_000049.3(ASPA):c.906G>A (p.Thr302=) rs371394875
NM_000049.3(ASPA):c.927C>T (p.Arg309=) rs749049390
NM_000049.4(ASPA):c.147dup (p.Pro50fs) rs1597422432
NM_000049.4(ASPA):c.162C>A (p.Asn54Lys)
NM_000049.4(ASPA):c.236+2T>C
NM_000049.4(ASPA):c.237-6T>C rs370219865
NM_000049.4(ASPA):c.693C>A (p.Tyr231Ter) rs12948217
NM_000049.4(ASPA):c.731A>C (p.His244Pro)
NM_000049.4(ASPA):c.740T>C (p.Leu247Pro)
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.1006C>T (p.Arg336Cys) rs398123151
NM_000071.2(CBS):c.1007G>A (p.Arg336His) rs760417941
NM_000071.2(CBS):c.1039+3G>A rs747384273
NM_000071.2(CBS):c.1039+6T>G rs1601349690
NM_000071.2(CBS):c.1039G>A (p.Gly347Ser) rs771298943
NM_000071.2(CBS):c.1040-6C>G rs767372401
NM_000071.2(CBS):c.1058C>T (p.Thr353Met) rs121964972
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.1070C>G (p.Ala357Gly) rs863223437
NM_000071.2(CBS):c.1072G>A (p.Val358Met) rs148589243
NM_000071.2(CBS):c.1074G>A (p.Val358=) rs570135008
NM_000071.2(CBS):c.1080_1081delinsTA (p.Ala361Thr) rs1555873407
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.1111G>A (p.Val371Met) rs372010465
NM_000071.2(CBS):c.1114G>A (p.Val372Ile) rs775354680
NM_000071.2(CBS):c.1125C>T (p.Pro375=) rs146180894
NM_000071.2(CBS):c.1126G>A (p.Asp376Asn) rs1170128038
NM_000071.2(CBS):c.1136G>A (p.Arg379Gln) rs763036586
NM_000071.2(CBS):c.1145+7C>T rs201158177
NM_000071.2(CBS):c.1145+9C>T rs745997797
NM_000071.2(CBS):c.1146-7C>T rs376749931
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.1209G>A (p.Thr403=) rs199967147
NM_000071.2(CBS):c.1221del (p.Trp408fs) rs1361324844
NM_000071.2(CBS):c.1223+1G>T rs1601339216
NM_000071.2(CBS):c.1224-2A>C rs375846341
NM_000071.2(CBS):c.1237C>T (p.Arg413Cys) rs767595472
NM_000071.2(CBS):c.1257G>A (p.Leu419=) rs138432416
NM_000071.2(CBS):c.1266G>A (p.Pro422=) rs150146702
NM_000071.2(CBS):c.1272C>T (p.Thr424=) rs141717913
NM_000071.2(CBS):c.1273G>A (p.Val425Met) rs138211175
NM_000071.2(CBS):c.1287C>T (p.Ile429=) rs770442169
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.1330G>A (p.Asp444Asn) rs28934891
NM_000071.2(CBS):c.1337C>T (p.Ala446Val) rs757347527
NM_000071.2(CBS):c.1338G>A (p.Ala446=) rs373962057
NM_000071.2(CBS):c.133C>T (p.Arg45Trp) rs201372812
NM_000071.2(CBS):c.1341C>T (p.Pro447=) rs371493662
NM_000071.2(CBS):c.134G>A (p.Arg45Gln) rs759502207
NM_000071.2(CBS):c.1359-1G>C rs865990681
NM_000071.2(CBS):c.1359-9G>A rs202137317
NM_000071.2(CBS):c.1379C>T (p.Thr460Met) rs752596508
NM_000071.2(CBS):c.1380G>A (p.Thr460=) rs765134080
NM_000071.2(CBS):c.138C>T (p.Pro46=) rs532584017
NM_000071.2(CBS):c.1413G>C (p.Gly471=) rs777859460
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.146C>T (p.Pro49Leu) rs148865119
NM_000071.2(CBS):c.1479G>A (p.Thr493=) rs143225442
NM_000071.2(CBS):c.147G>A (p.Pro49=) rs771719483
NM_000071.2(CBS):c.1484C>T (p.Thr495Met) rs772344567
NM_000071.2(CBS):c.1485G>A (p.Thr495=) rs369903148
NM_000071.2(CBS):c.1525G>A (p.Ala509Thr) rs1060500680
NM_000071.2(CBS):c.1539C>T (p.His513=) rs187828882
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.1563C>T (p.Thr521=) rs773052594
NM_000071.2(CBS):c.1564G>A (p.Gly522Arg) rs201916339
NM_000071.2(CBS):c.1566del (p.Lys523fs) rs786204466
NM_000071.2(CBS):c.1575T>C (p.Ser525=) rs150037641
NM_000071.2(CBS):c.1593C>T (p.Phe531=) rs768230991
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.1632C>T (p.Ala544=) rs566810122
NM_000071.2(CBS):c.1643G>A (p.Arg548Gln) rs150828989
NM_000071.2(CBS):c.1644G>C (p.Arg548=) rs143945898
NM_000071.2(CBS):c.1656A>C (p.Ter552Cys) rs1365095601
NM_000071.2(CBS):c.183C>T (p.Ser61=) rs753906914
NM_000071.2(CBS):c.18C>T (p.Pro6=) rs777370660
NM_000071.2(CBS):c.19dup (p.Gln7fs) rs748695461
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.253G>A (p.Gly85Arg) rs863223435
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.302T>C (p.Leu101Pro) rs786204757
NM_000071.2(CBS):c.313C>G (p.Leu105Val) rs1601375543
NM_000071.2(CBS):c.316+5G>C rs1601375508
NM_000071.2(CBS):c.325T>C (p.Cys109Arg) rs778220779
NM_000071.2(CBS):c.33G>A (p.Gly11=) rs567323664
NM_000071.2(CBS):c.341C>T (p.Ala114Val) rs121964964
NM_000071.2(CBS):c.34C>T (p.Pro12Ser) rs558259739
NM_000071.2(CBS):c.351C>T (p.Ser117=) rs769149281
NM_000071.2(CBS):c.361C>T (p.Arg121Cys) rs775992753
NM_000071.2(CBS):c.362G>A (p.Arg121His) rs770095972
NM_000071.2(CBS):c.369C>A (p.Ser123Arg) rs1555875387
NM_000071.2(CBS):c.374G>A (p.Arg125Gln) rs781444670
NM_000071.2(CBS):c.384G>A (p.Glu128=) rs374593242
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.429C>T (p.Ile143=) rs370167302
NM_000071.2(CBS):c.430G>A (p.Glu144Lys) rs121964966
NM_000071.2(CBS):c.430G>C (p.Glu144Gln) rs121964966
NM_000071.2(CBS):c.435G>A (p.Pro145=) rs148782895
NM_000071.2(CBS):c.441C>T (p.Ser147=) rs367669819
NM_000071.2(CBS):c.442G>A (p.Gly148Arg) rs755952006
NM_000071.2(CBS):c.451G>T (p.Gly151Trp) rs373782713
NM_000071.2(CBS):c.452-154_623dup rs1568932440
NM_000071.2(CBS):c.456C>T (p.Ile152=) rs769438280
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.474G>A (p.Ala158=) rs189362155
NM_000071.2(CBS):c.493T>G (p.Cys165Gly) rs1234354755
NM_000071.2(CBS):c.494G>A (p.Cys165Tyr) rs1347651454
NM_000071.2(CBS):c.501C>T (p.Ile167=) rs754246295
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.532-2A>G rs1568932835
NM_000071.2(CBS):c.536_553del (p.Asp179_Leu184del) rs794727835
NM_000071.2(CBS):c.537C>T (p.Asp179=) rs769712423
NM_000071.2(CBS):c.538G>A (p.Val180Met) rs759402521
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.572C>T (p.Thr191Met) rs121964973
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.609C>T (p.His203=) rs142313595
NM_000071.2(CBS):c.612G>C (p.Val204=) rs539670390
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.625C>A (p.Arg209=) rs137939628
NM_000071.2(CBS):c.636C>T (p.Asn212=) rs2298758
NM_000071.2(CBS):c.65A>G (p.His22Arg) rs763151207
NM_000071.2(CBS):c.667-10_667-7del rs376011228
NM_000071.2(CBS):c.667-14_667-7del rs764160782
NM_000071.2(CBS):c.670C>T (p.Arg224Cys) rs139456571
NM_000071.2(CBS):c.675C>T (p.Asn225=) rs145303290
NM_000071.2(CBS):c.689del (p.Leu230fs) rs775351239
NM_000071.2(CBS):c.68C>T (p.Ser23Leu) rs775785018
NM_000071.2(CBS):c.708C>T (p.Thr236=) rs748495689
NM_000071.2(CBS):c.710C>T (p.Ala237Val) rs1568931765
NM_000071.2(CBS):c.72G>A (p.Ala24=) rs145466242
NM_000071.2(CBS):c.737-1G>C rs757428597
NM_000071.2(CBS):c.738delG rs766453711
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.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.785C>T (p.Thr262Met) rs149119723
NM_000071.2(CBS):c.791T>C (p.Ile264Thr) rs760212248
NM_000071.2(CBS):c.797G>A (p.Arg266Lys) rs121964969
NM_000071.2(CBS):c.816T>A (p.Cys272Ter) rs528689432
NM_000071.2(CBS):c.825C>T (p.Cys275=) rs764638041
NM_000071.2(CBS):c.828+1G>A rs763290176
NM_000071.2(CBS):c.832_833insCTGGGGTGGATCACCCAGGTGGGGCTTTTGCTGGGCTTGAGCCCTGAAGCCGCGCCCTCTGCAGATCA
NM_000071.2(CBS):c.832_833insCTGGGGTGGATCATCCAGGTGGGGCTTTTGCTGGGCTTGAGCCCTGAAGCCGCGCCCTCTGCAGATCA
NM_000071.2(CBS):c.833_834insCCAGGTGGGGCTTTTGCTGGGCTTGAGCCCTGAAGCCGCGCCCTCTGCAGATCAT
NM_000071.2(CBS):c.840G>A (p.Val280=) rs1060500682
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.866A>G (p.Glu289Gly) rs1601352415
NM_000071.2(CBS):c.887C>T (p.Thr296Met) rs562530775
NM_000071.2(CBS):c.903C>T (p.Tyr301=) rs746575551
NM_000071.2(CBS):c.904G>A (p.Glu302Lys) rs779270933
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.939G>A (p.Thr313=) rs2228298
NM_000071.2(CBS):c.953C>T (p.Thr318Met) rs769541394
NM_000071.2(CBS):c.954+5G>T rs1568928886
NM_000071.2(CBS):c.954+8G>A rs76292057
NM_000071.2(CBS):c.981C>T (p.Asn327=) rs777898632
NM_000071.2(CBS):c.992C>A (p.Ala331Glu) rs777919630
NM_000071.3(CBS):c.*540G>A rs111386779
NM_000071.3(CBS):c.1019C>T (p.Ala340Val)
NM_000071.3(CBS):c.1041T>A (p.Gly347=) rs573954005
NM_000071.3(CBS):c.1223+8C>A rs747888658
NM_000071.3(CBS):c.1226G>A (p.Trp409Ter)
NM_000071.3(CBS):c.1251G>A (p.Leu417=) rs764079534
NM_000071.3(CBS):c.1325G>A (p.Gly442Asp)
NM_000071.3(CBS):c.1326C>G (p.Gly442=) rs750627927
NM_000071.3(CBS):c.1356G>A (p.Ala452=) rs776322450
NM_000071.3(CBS):c.1367T>C (p.Leu456Pro)
NM_000071.3(CBS):c.1410C>T (p.Ala470=) rs773019624
NM_000071.3(CBS):c.1468-6T>G
NM_000071.3(CBS):c.1512G>A (p.Glu504=) rs149170219
NM_000071.3(CBS):c.156C>A (p.Cys52Ter)
NM_000071.3(CBS):c.1576C>A (p.Gln526Lys)
NM_000071.3(CBS):c.1634C>T (p.Ala545Val)
NM_000071.3(CBS):c.19del (p.Gln7fs)
NM_000071.3(CBS):c.304A>C (p.Lys102Gln) rs34040148
NM_000071.3(CBS):c.339C>T (p.Asn113=) rs140879135
NM_000071.3(CBS):c.451G>A (p.Gly151Arg)
NM_000071.3(CBS):c.489T>C (p.Tyr163=) rs61735858
NM_000071.3(CBS):c.525C>T (p.Ser175=) rs767850964
NM_000071.3(CBS):c.573G>A (p.Thr191=) rs73906420
NM_000071.3(CBS):c.687C>T (p.Pro229=) rs769298649
NM_000071.3(CBS):c.698_699inv (p.Tyr233Cys)
NM_000071.3(CBS):c.69G>A (p.Ser23=) rs769704501
NM_000071.3(CBS):c.717G>A (p.Glu239=) rs372797469
NM_000071.3(CBS):c.737-10C>T rs546751042
NM_000071.3(CBS):c.829-8C>G rs750081937
NM_000071.3(CBS):c.833T>C (p.Ile278Thr) rs5742905
NM_000071.3(CBS):c.919G>A (p.Gly307Ser) rs121964962
NM_000071.3(CBS):c.921C>G (p.Gly307=)
NM_000071.3(CBS):c.93G>T (p.Gly31=) rs754409674
NM_000071.3(CBS):c.954G>A (p.Thr318=)
NM_000071.3(CBS):c.993G>A (p.Ala331=) rs759398443
NM_000170.2(GLDC):c.1000T>C (p.Phe334Leu) rs149133229
NM_000170.2(GLDC):c.1009C>T (p.Arg337Ter) rs386833517
NM_000170.2(GLDC):c.1010G>A (p.Arg337Gln) rs138129131
NM_000170.2(GLDC):c.1054del (p.Thr352fs) rs386833518
NM_000170.2(GLDC):c.1058+2T>A rs1587959976
NM_000170.2(GLDC):c.106G>C (p.Asp36His) rs573883784
NM_000170.2(GLDC):c.110G>A (p.Ser37Asn) rs763471932
NM_000170.2(GLDC):c.1145G>A (p.Cys382Tyr) rs759133707
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.1278G>A (p.Gly426=) rs1554647023
NM_000170.2(GLDC):c.1317G>T (p.Lys439Asn) rs151163582
NM_000170.2(GLDC):c.1319T>C (p.Ile440Thr) rs386833523
NM_000170.2(GLDC):c.1331G>A (p.Cys444Tyr) rs142099123
NM_000170.2(GLDC):c.1384C>G (p.Leu462Val) rs73400312
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.1483-6C>T rs1442788186
NM_000170.2(GLDC):c.1483G>C (p.Glu495Gln) rs1554646734
NM_000170.2(GLDC):c.1484_1489del6 rs778109389
NM_000170.2(GLDC):c.1508A>C (p.Glu503Ala) rs201890453
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.1545G>C (p.Arg515Ser) rs121964976
NM_000170.2(GLDC):c.1553C>G (p.Pro518Arg) rs761064507
NM_000170.2(GLDC):c.1580+2T>G rs1554646710
NM_000170.2(GLDC):c.1580G>C (p.Ser527Thr) rs1247180998
NM_000170.2(GLDC):c.1581-5C>T rs184463452
NM_000170.2(GLDC):c.1618A>C (p.Lys540Gln) rs140516872
NM_000170.2(GLDC):c.1640C>G (p.Ser547Cys) rs1320151906
NM_000170.2(GLDC):c.1652G>T (p.Ser551Ile) rs751822565
NM_000170.2(GLDC):c.1665+7A>T rs759573888
NM_000170.2(GLDC):c.1679T>C (p.Met560Thr) rs1366947118
NM_000170.2(GLDC):c.1705G>A (p.Ala569Thr) rs151268759
NM_000170.2(GLDC):c.1707+8G>A rs144666843
NM_000170.2(GLDC):c.1722A>C (p.Lys574Asn) rs1554646530
NM_000170.2(GLDC):c.1752T>C (p.Pro584=) rs150647379
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.1815C>T (p.Leu605=) rs74461075
NM_000170.2(GLDC):c.1850+1del rs1399754800
NM_000170.2(GLDC):c.1866_1867AT[3] (p.Ala624fs) rs772068893
NM_000170.2(GLDC):c.1889G>C (p.Arg630Pro) rs763517274
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.1927-9A>G rs41281773
NM_000170.2(GLDC):c.1931G>A (p.Cys644Tyr) rs386833535
NM_000170.2(GLDC):c.1932C>T (p.Cys644=) rs111348076
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.2024A>C (p.Asn675Thr) rs749513146
NM_000170.2(GLDC):c.2053-5C>G rs140877566
NM_000170.2(GLDC):c.2113G>A (p.Val705Met) rs147275962
NM_000170.2(GLDC):c.2126A>G (p.Asn709Ser) rs150943866
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.2182G>A (p.Gly728Arg) rs386833542
NM_000170.2(GLDC):c.2186del (p.Ala729fs) rs386833543
NM_000170.2(GLDC):c.2203G>T (p.Val735Leu) rs143119940
NM_000170.2(GLDC):c.2216G>A (p.Arg739His) rs121964980
NM_000170.2(GLDC):c.222C>T (p.Asp74=) rs148373517
NM_000170.2(GLDC):c.2230G>A (p.Gly744Arg) rs370061961
NM_000170.2(GLDC):c.2244G>A (p.Ser748=) rs372693840
NM_000170.2(GLDC):c.2278dup (p.His760fs) rs1563834980
NM_000170.2(GLDC):c.2281G>A (p.Gly761Arg) rs386833549
NM_000170.2(GLDC):c.2283A>G (p.Gly761=) rs1554643744
NM_000170.2(GLDC):c.2304G>A (p.Gly768=) rs533775952
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.2311G>A (p.Gly771Arg) rs386833553
NM_000170.2(GLDC):c.2316-1G>A rs386833554
NM_000170.2(GLDC):c.2316-6del rs3215923
NM_000170.2(GLDC):c.2323C>T (p.His775Tyr) rs1554643619
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.2352C>T (p.Pro784=) rs367781728
NM_000170.2(GLDC):c.2368C>T (p.Arg790Trp) rs386833556
NM_000170.2(GLDC):c.2380G>A (p.Ala794Thr) rs141933811
NM_000170.2(GLDC):c.2383T>A (p.Cys795Ser) rs567167527
NM_000170.2(GLDC):c.2409C>T (p.Ala803=) rs1554643608
NM_000170.2(GLDC):c.2446G>A (p.Ala816Thr) rs775834004
NM_000170.2(GLDC):c.2455A>G (p.Lys819Glu) rs1587922096
NM_000170.2(GLDC):c.2457+8C>T rs147308839
NM_000170.2(GLDC):c.2487C>T (p.Ala829=) rs141806715
NM_000170.2(GLDC):c.2489C>T (p.Thr830Met) rs386833560
NM_000170.2(GLDC):c.2490G>T (p.Thr830=) rs145407593
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.2527C>T (p.Arg843Ter) rs1554643360
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.2570G>A (p.Gly857Asp) rs1455180063
NM_000170.2(GLDC):c.2584G>A (p.Glu862Lys) rs925908885
NM_000170.2(GLDC):c.2593T>A (p.Leu865Met) rs375375700
NM_000170.2(GLDC):c.2607C>A (p.Pro869=) rs386833565
NM_000170.2(GLDC):c.2612A>G (p.Lys871Arg) rs766244892
NM_000170.2(GLDC):c.2614A>T (p.Lys872Ter) rs1430968530
NM_000170.2(GLDC):c.262G>A (p.Asp88Asn) rs770826242
NM_000170.2(GLDC):c.2665+10T>C rs774684209
NM_000170.2(GLDC):c.2665+1G>C rs149070244
NM_000170.2(GLDC):c.2683A>G (p.Met895Val) rs141152043
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.2714T>G (p.Val905Gly) rs188269735
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.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.2832G>A (p.Pro944=) rs764242927
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.2919+1G>C rs386833575
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.2936A>C (p.Glu979Ala) rs550514750
NM_000170.2(GLDC):c.2938A>G (p.Asn980Asp) rs772574530
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.2964G>C (p.Arg988=) rs146045718
NM_000170.2(GLDC):c.2980G>A (p.Gly994Arg) rs1406713104
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.319A>G (p.Met107Val) rs138454333
NM_000170.2(GLDC):c.327C>T (p.Asp109=) rs1181706015
NM_000170.2(GLDC):c.329C>A (p.Pro110His) rs371491621
NM_000170.2(GLDC):c.40C>A (p.Arg14Ser) rs182760732
NM_000170.2(GLDC):c.411_412insAATA (p.Tyr138fs) rs1563864784
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.499G>T (p.Glu167Ter) rs191905539
NM_000170.2(GLDC):c.4C>A (p.Gln2Lys) rs1554652870
NM_000170.2(GLDC):c.52G>T (p.Gly18Cys) rs535143891
NM_000170.2(GLDC):c.538C>T (p.Gln180Ter) rs762989914
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.619C>G (p.Leu207Val) rs142181803
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.642C>T (p.Asn214=) rs775546889
NM_000170.2(GLDC):c.646A>G (p.Arg216Gly) rs140411475
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.71G>A (p.Gly24Glu) rs967983950
NM_000170.2(GLDC):c.790T>C (p.Phe264Leu) rs1038444873
NM_000170.2(GLDC):c.806C>T (p.Thr269Met) rs386833587
NM_000170.2(GLDC):c.861+5G>C rs192663616
NM_000170.2(GLDC):c.862-10T>A rs1264036061
NM_000170.2(GLDC):c.871T>G (p.Cys291Gly) rs141014950
NM_000170.2(GLDC):c.913C>A (p.Pro305Thr) rs370964168
NM_000170.2(GLDC):c.936C>T (p.Ile312=) rs79057118
NM_000170.3(GLDC):c.103C>A (p.Arg35=) rs764400486
NM_000170.3(GLDC):c.1041A>C (p.Arg347Ser)
NM_000170.3(GLDC):c.1075G>A (p.Glu359Lys)
NM_000170.3(GLDC):c.1080G>T (p.Val360=) rs745502236
NM_000170.3(GLDC):c.1149A>G (p.Thr383=) rs146499591
NM_000170.3(GLDC):c.114C>T (p.Ser38=) rs1315587398
NM_000170.3(GLDC):c.1155+9C>G rs994997633
NM_000170.3(GLDC):c.1161C>A (p.Leu387=) rs781613958
NM_000170.3(GLDC):c.1167G>C (p.Ala389=) rs199901045
NM_000170.3(GLDC):c.1210C>T (p.Leu404=) rs781450542
NM_000170.3(GLDC):c.1242C>T (p.Ala414=) rs761471932
NM_000170.3(GLDC):c.1261+3G>A
NM_000170.3(GLDC):c.1262-4G>A rs549797631
NM_000170.3(GLDC):c.1332C>T (p.Cys444=) rs781050148
NM_000170.3(GLDC):c.1359C>T (p.Ala453=) rs766839627
NM_000170.3(GLDC):c.1401+9A>G rs75555848
NM_000170.3(GLDC):c.1430A>G (p.Asn477Ser)
NM_000170.3(GLDC):c.147C>T (p.Ala49=) rs994081399
NM_000170.3(GLDC):c.1554G>A (p.Pro518=) rs377219563
NM_000170.3(GLDC):c.1554G>C (p.Pro518=) rs377219563
NM_000170.3(GLDC):c.1629del (p.Asn543fs) rs1345599468
NM_000170.3(GLDC):c.1791G>C (p.Glu597Asp)
NM_000170.3(GLDC):c.1817C>T (p.Thr606Ile)
NM_000170.3(GLDC):c.1828C>T (p.Gln610Ter)
NM_000170.3(GLDC):c.183C>G (p.Asp61Glu)
NM_000170.3(GLDC):c.1851-9C>G rs377751310
NM_000170.3(GLDC):c.1851C>T (p.Ser617=) rs777724341
NM_000170.3(GLDC):c.1893C>T (p.Ala631=) rs565751857
NM_000170.3(GLDC):c.190G>A (p.Ala64Thr) rs141601131
NM_000170.3(GLDC):c.1926+6T>C rs200007891
NM_000170.3(GLDC):c.1941G>A (p.Pro647=) rs1232468588
NM_000170.3(GLDC):c.1953T>C (p.His651=) rs777613879
NM_000170.3(GLDC):c.1974C>A (p.Ala658=) rs534062853
NM_000170.3(GLDC):c.2097C>T (p.Tyr699=) rs149694787
NM_000170.3(GLDC):c.209C>A (p.Pro70His)
NM_000170.3(GLDC):c.20C>T (p.Ala7Val)
NM_000170.3(GLDC):c.2160T>C (p.His720=) rs758841885
NM_000170.3(GLDC):c.2175C>T (p.Tyr725=) rs147951756
NM_000170.3(GLDC):c.2202+6A>G
NM_000170.3(GLDC):c.2202+8C>A rs577906178
NM_000170.3(GLDC):c.2229C>T (p.Phe743=) rs144317480
NM_000170.3(GLDC):c.2271C>T (p.Cys757=) rs770961258
NM_000170.3(GLDC):c.2307C>T (p.Pro769=) rs565834029
NM_000170.3(GLDC):c.2315+1G>T
NM_000170.3(GLDC):c.2316-13_2316-12dup rs3215923
NM_000170.3(GLDC):c.2328C>T (p.Leu776=) rs149600380
NM_000170.3(GLDC):c.2335T>C (p.Phe779Leu)
NM_000170.3(GLDC):c.2352C>G (p.Pro784=) rs367781728
NM_000170.3(GLDC):c.2406G>A (p.Ala802=) rs368811775
NM_000170.3(GLDC):c.250C>T (p.Leu84=) rs746606221
NM_000170.3(GLDC):c.2531T>G (p.Leu844Ter)
NM_000170.3(GLDC):c.255+8C>T rs202086134
NM_000170.3(GLDC):c.2561G>A (p.Gly854Asp)
NM_000170.3(GLDC):c.2565A>C (p.Ala855=) rs966395392
NM_000170.3(GLDC):c.258C>T (p.Ser86=) rs562000292
NM_000170.3(GLDC):c.2601G>A (p.Thr867=) rs371678175
NM_000170.3(GLDC):c.261T>C (p.Ile87=) rs776700682
NM_000170.3(GLDC):c.2697G>A (p.Val899=)
NM_000170.3(GLDC):c.2703G>C (p.Gly901=) rs369767254
NM_000170.3(GLDC):c.2755T>A (p.Phe919Ile)
NM_000170.3(GLDC):c.2821A>C (p.Arg941=) rs1587909520
NM_000170.3(GLDC):c.2838+10C>T rs1587909491
NM_000170.3(GLDC):c.2863G>A (p.Val955Ile) rs148540696
NM_000170.3(GLDC):c.2874C>T (p.Ser958=) rs146339375
NM_000170.3(GLDC):c.2920-8C>T rs138786708
NM_000170.3(GLDC):c.3002C>A (p.Thr1001Asn) rs555776146
NM_000170.3(GLDC):c.471-1G>C
NM_000170.3(GLDC):c.489A>G (p.Pro163=) rs770044310
NM_000170.3(GLDC):c.492C>G (p.Tyr164Ter)
NM_000170.3(GLDC):c.576C>G (p.Ala192=) rs768514155
NM_000170.3(GLDC):c.609C>T (p.Ala203=) rs201699152
NM_000170.3(GLDC):c.713+1G>A
NM_000170.3(GLDC):c.78G>C (p.Ser26=) rs915226152
NM_000170.3(GLDC):c.81G>A (p.Gly27=) rs1457809070
NM_000170.3(GLDC):c.831G>A (p.Thr277=) rs369824891
NM_000170.3(GLDC):c.84G>T (p.Pro28=) rs1259938806
NM_000170.3(GLDC):c.861+10C>T rs565335444
NM_000170.3(GLDC):c.861+5G>A
NM_000170.3(GLDC):c.89G>A (p.Trp30Ter)
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_000170.3(GLDC):c.972G>A (p.Leu324=) rs754536865
NM_000277.3(PAH):c.*144A>G rs375319584
NM_000277.3(PAH):c.*19G>T rs372637021
NM_000277.3(PAH):c.1010G>A (p.Gly337Glu) rs62517206
NM_000277.3(PAH):c.1012G>T (p.Asp338Tyr) rs62516150
NM_000277.3(PAH):c.1033G>T (p.Ala345Ser) rs62516062
NM_000277.3(PAH):c.1037G>A (p.Gly346Glu) rs1555203737
NM_000277.3(PAH):c.1042C>G (p.Leu348Val) rs62516092
NM_000277.3(PAH):c.1045T>C (p.Ser349Pro) rs62508646
NM_000277.3(PAH):c.1046C>T (p.Ser349Leu) rs62507279
NM_000277.3(PAH):c.1066-10_1070del rs1592947582
NM_000277.3(PAH):c.1066-11G>A rs5030855
NM_000277.3(PAH):c.1066-3C>T rs62507344
NM_000277.3(PAH):c.1068C>A (p.Tyr356Ter) rs62516095
NM_000277.3(PAH):c.1068C>G (p.Tyr356Ter) rs62516095
NM_000277.3(PAH):c.1074A>T (p.Leu358Phe) rs376480977
NM_000277.3(PAH):c.1089del (p.Lys363fs) rs5030654
NM_000277.3(PAH):c.1097C>A (p.Pro366His) rs62516098
NM_000277.3(PAH):c.1099del (p.Leu367fs) rs62506951
NM_000277.3(PAH):c.1123C>G (p.Gln375Glu) rs184148104
NM_000277.3(PAH):c.1139C>T (p.Thr380Met) rs62642937
NM_000277.3(PAH):c.113_115TCT[1] (p.Phe39del) rs199475565
NM_000277.3(PAH):c.1140G>A (p.Thr380=) rs373763334
NM_000277.3(PAH):c.1153del (p.Leu385fs) rs1565842203
NM_000277.3(PAH):c.1155= (p.Leu385=) rs772897
NM_000277.3(PAH):c.1157A>G (p.Tyr386Cys) rs62516141
NM_000277.3(PAH):c.1161C>T (p.Tyr387=) rs149595475
NM_000277.3(PAH):c.1162G>A (p.Val388Met) rs62516101
NM_000277.3(PAH):c.1169A>G (p.Glu390Gly) rs5030856
NM_000277.3(PAH):c.1174T>A (p.Phe392Ile)
NM_000277.3(PAH):c.117C>G (p.Phe39Leu) rs62642926
NM_000277.3(PAH):c.1183G>C (p.Ala395Pro) rs62516103
NM_000277.3(PAH):c.1184C>G (p.Ala395Gly) rs62508736
NM_000277.3(PAH):c.1197A>T (p.Val399=) rs199475584
NM_000277.3(PAH):c.1198del (p.Arg400fs) rs199475590
NM_000277.3(PAH):c.1199+17G>A rs62508613
NM_000277.3(PAH):c.1199+1G>A rs62509015
NM_000277.3(PAH):c.1199+1G>C rs62509015
NM_000277.3(PAH):c.1200-2A>G
NM_000277.3(PAH):c.1200-8G>A rs62507261
NM_000277.3(PAH):c.1208C>T (p.Ala403Val) rs5030857
NM_000277.3(PAH):c.121C>T (p.Leu41Phe) rs62642928
NM_000277.3(PAH):c.1222C>T (p.Arg408Trp) rs5030858
NM_000277.3(PAH):c.1223G>A (p.Arg408Gln) rs5030859
NM_000277.3(PAH):c.1238G>C (p.Arg413Pro) rs79931499
NM_000277.3(PAH):c.1241A>G (p.Tyr414Cys) rs5030860
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.1256A>G (p.Gln419Arg) rs752255985
NM_000277.3(PAH):c.1262T>G (p.Ile421Ser) rs199475696
NM_000277.3(PAH):c.1278T>C (p.Asn426=) rs59326968
NM_000277.3(PAH):c.1282C>T (p.Gln428Ter) rs567261857
NM_000277.3(PAH):c.1304A>T (p.Asp435Val) rs1592945394
NM_000277.3(PAH):c.1315+1G>A rs5030861
NM_000277.3(PAH):c.1315+4A>G rs62508649
NM_000277.3(PAH):c.1339G>A (p.Ala447Thr)
NM_000277.3(PAH):c.1340C>A (p.Ala447Asp) rs76542238
NM_000277.3(PAH):c.1352_1356TAAAG[1] (p.Ter453ProextTer?) rs794727086
NM_000277.3(PAH):c.136G>A (p.Gly46Ser) rs74603784
NM_000277.3(PAH):c.143T>C (p.Leu48Ser) rs5030841
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.165del (p.Phe55fs) rs199475566
NM_000277.3(PAH):c.168+5G>C rs62507288
NM_000277.3(PAH):c.193A>G (p.Ile65Val) rs199475643
NM_000277.3(PAH):c.194T>C (p.Ile65Thr) rs75193786
NM_000277.3(PAH):c.1A>G (p.Met1Val) rs62514891
NM_000277.3(PAH):c.204A>T (p.Arg68Ser) rs76394784
NM_000277.3(PAH):c.208_210del (p.Ser70del) rs62642094
NM_000277.3(PAH):c.223G>A (p.Asp75Asn) rs767453024
NM_000277.3(PAH):c.227A>G (p.Glu76Gly) rs62507347
NM_000277.3(PAH):c.261C>A (p.Ser87Arg) rs62516151
NM_000277.3(PAH):c.281_283TCA[1] (p.Ile95del) rs62508727
NM_000277.3(PAH):c.289A>C (p.Ile97Leu) rs142516271
NM_000277.3(PAH):c.301G>A (p.Asp101Asn) rs1555207979
NM_000277.3(PAH):c.311C>A (p.Ala104Asp) rs62642929
NM_000277.3(PAH):c.320A>G (p.His107Arg) rs542645236
NM_000277.3(PAH):c.331C>T (p.Arg111Ter) rs76296470
NM_000277.3(PAH):c.353-1G>A
NM_000277.3(PAH):c.355C>T (p.Pro119Ser) rs398123292
NM_000277.3(PAH):c.357del (p.Trp120fs) rs794727619
NM_000277.3(PAH):c.385G>T (p.Asp129Tyr) rs199475606
NM_000277.3(PAH):c.386A>G (p.Asp129Gly) rs199475623
NM_000277.3(PAH):c.398_401del (p.Asn133fs) rs199475605
NM_000277.3(PAH):c.399T>C (p.Asn133=) rs145692106
NM_000277.3(PAH):c.424C>T (p.Leu142=) rs375364629
NM_000277.3(PAH):c.434A>T (p.Asp145Val) rs140175796
NM_000277.3(PAH):c.43_44CT[2] (p.Leu15_Ser16insTer) rs62642906
NM_000277.3(PAH):c.441+1G>A rs62517166
NM_000277.3(PAH):c.441+4A>G rs62508586
NM_000277.3(PAH):c.441+5G>T rs62507321
NM_000277.3(PAH):c.441+6T>A rs199475698
NM_000277.3(PAH):c.442-4C>G rs987125136
NM_000277.3(PAH):c.442-5C>G rs62514909
NM_000277.3(PAH):c.442G>A (p.Gly148Ser) rs80297647
NM_000277.3(PAH):c.456T>C (p.Pro152=) rs377244118
NM_000277.3(PAH):c.464G>A (p.Arg155His) rs199475663
NM_000277.3(PAH):c.472C>T (p.Arg158Trp) rs75166491
NM_000277.3(PAH):c.473G>A (p.Arg158Gln) rs5030843
NM_000277.3(PAH):c.490A>G (p.Ile164Val) rs199475647
NM_000277.3(PAH):c.498C>G (p.Tyr166Ter) rs199475645
NM_000277.3(PAH):c.500A>G (p.Asn167Ser) rs77554925
NM_000277.3(PAH):c.500A>T (p.Asn167Ile) rs77554925
NM_000277.3(PAH):c.508C>G (p.His170Asp) rs199475655
NM_000277.3(PAH):c.509+1G>A rs63102461
NM_000277.3(PAH):c.510T>A (p.His170Gln) rs199475652
NM_000277.3(PAH):c.511G>A (p.Gly171Arg) rs199475613
NM_000277.3(PAH):c.516G>C (p.Gln172His)
NM_000277.3(PAH):c.516G>T (p.Gln172His) rs192592111
NM_000277.3(PAH):c.520A>G (p.Ile174Val) rs199475632
NM_000277.3(PAH):c.526C>T (p.Arg176Ter) rs199475575
NM_000277.3(PAH):c.527G>A (p.Arg176Gln) rs74486803
NM_000277.3(PAH):c.527G>T (p.Arg176Leu) rs74486803
NM_000277.3(PAH):c.529G>A (p.Val177Met) rs199475602
NM_000277.3(PAH):c.529G>C (p.Val177Leu) rs199475602
NM_000277.3(PAH):c.533A>G (p.Glu178Gly) rs77958223
NM_000277.3(PAH):c.553_706+647del
NM_000277.3(PAH):c.561G>A (p.Trp187Ter) rs62507336
NM_000277.3(PAH):c.569T>C (p.Val190Ala) rs62514919
NM_000277.3(PAH):c.588C>T (p.Ser196=) rs755420480
NM_000277.3(PAH):c.592_613del (p.Tyr198fs) rs199475697
NM_000277.3(PAH):c.60+5G>T rs62514895
NM_000277.3(PAH):c.601C>T (p.His201Tyr) rs62517205
NM_000277.3(PAH):c.602A>G (p.His201Arg) rs62517180
NM_000277.3(PAH):c.609C>T (p.Cys203=) rs1801147
NM_000277.3(PAH):c.611A>G (p.Tyr204Cys) rs62514927
NM_000277.3(PAH):c.612T>C (p.Tyr204=) rs62514928
NM_000277.3(PAH):c.612T>G (p.Tyr204Ter) rs62514928
NM_000277.3(PAH):c.613G>A (p.Glu205Lys) rs63083560
NM_000277.3(PAH):c.618C>A (p.Tyr206Ter) rs62517201
NM_000277.3(PAH):c.620A>G (p.Asn207Ser) rs62508721
NM_000277.3(PAH):c.631C>A (p.Pro211Thr) rs62514931
NM_000277.3(PAH):c.632C>T (p.Pro211Leu) rs281865443
NM_000277.3(PAH):c.648C>G (p.Tyr216Ter) rs62509013
NM_000277.3(PAH):c.653G>T (p.Gly218Val) rs62514933
NM_000277.3(PAH):c.664_665del (p.Glu221_Asp222insTer) rs62514936
NM_000277.3(PAH):c.673C>A (p.Pro225Thr) rs199475589
NM_000277.3(PAH):c.681G>A (p.Leu227=) rs182135145
NM_000277.3(PAH):c.686dup (p.Asp229fs) rs1565848110
NM_000277.3(PAH):c.688G>A (p.Val230Ile) rs62516152
NM_000277.3(PAH):c.691T>C (p.Ser231Pro) rs5030845
NM_000277.3(PAH):c.696= (p.Gln232=) rs1126758
NM_000277.3(PAH):c.707-12_711del rs1555204492
NM_000277.3(PAH):c.707-1G>A rs62507269
NM_000277.3(PAH):c.707-7A>T rs62508624
NM_000277.3(PAH):c.712A>C (p.Thr238Pro) rs199475577
NM_000277.3(PAH):c.71A>G (p.Tyr24Cys) rs539994406
NM_000277.3(PAH):c.721C>T (p.Arg241Cys) rs76687508
NM_000277.3(PAH):c.722G>A (p.Arg241His) rs62508730
NM_000277.3(PAH):c.722G>T (p.Arg241Leu) rs62508730
NM_000277.3(PAH):c.722del (p.Arg241fs) rs199475657
NM_000277.3(PAH):c.727C>T (p.Arg243Ter) rs5030846
NM_000277.3(PAH):c.728G>A (p.Arg243Gln) rs62508588
NM_000277.3(PAH):c.733G>C (p.Val245Leu) rs62508694
NM_000277.3(PAH):c.734T>A (p.Val245Glu) rs76212747
NM_000277.3(PAH):c.734T>C (p.Val245Ala) rs76212747
NM_000277.3(PAH):c.737del (p.Ala246fs) rs199475666
NM_000277.3(PAH):c.740G>T (p.Gly247Val) rs199475579
NM_000277.3(PAH):c.745C>T (p.Leu249Phe) rs74503222
NM_000277.3(PAH):c.754C>T (p.Arg252Trp) rs5030847
NM_000277.3(PAH):c.755G>A (p.Arg252Gln) rs62644503
NM_000277.3(PAH):c.772C>T (p.Leu258=) rs75065106
NM_000277.3(PAH):c.776C>T (p.Ala259Val) rs118203921
NM_000277.3(PAH):c.781C>T (p.Arg261Ter) rs5030850
NM_000277.3(PAH):c.782G>A (p.Arg261Gln) rs5030849
NM_000277.3(PAH):c.794G>A (p.Cys265Tyr) rs62507335
NM_000277.3(PAH):c.799C>T (p.Gln267Ter) rs199475676
NM_000277.3(PAH):c.805A>C (p.Ile269Leu) rs62508692
NM_000277.3(PAH):c.806del (p.Ile269fs) rs62508687
NM_000277.3(PAH):c.809G>A (p.Arg270Lys) rs62514950
NM_000277.3(PAH):c.814G>T (p.Gly272Ter) rs62514952
NM_000277.3(PAH):c.818C>T (p.Ser273Phe) rs62514953
NM_000277.3(PAH):c.820A>G (p.Lys274Glu) rs142934616
NM_000277.3(PAH):c.824C>G (p.Pro275Arg) rs62508715
NM_000277.3(PAH):c.829T>G (p.Tyr277Asp) rs78655458
NM_000277.3(PAH):c.833C>T (p.Thr278Ile) rs62507262
NM_000277.3(PAH):c.835C>G (p.Pro279Ala) rs1555204441
NM_000277.3(PAH):c.837C>T (p.Pro279=) rs138355741
NM_000277.3(PAH):c.838G>A (p.Glu280Lys) rs62508698
NM_000277.3(PAH):c.839A>G (p.Glu280Gly) rs62508734
NM_000277.3(PAH):c.842+1G>A rs5030852
NM_000277.3(PAH):c.842+2T>A rs62514955
NM_000277.3(PAH):c.842+3G>C rs62507324
NM_000277.3(PAH):c.842+5G>A rs62516146
NM_000277.3(PAH):c.842C>T (p.Pro281Leu) rs5030851
NM_000277.3(PAH):c.847A>T (p.Ile283Phe) rs62517168
NM_000277.3(PAH):c.865G>A (p.Gly289Arg) rs199475693
NM_000277.3(PAH):c.880T>A (p.Phe294Ile) rs1565846198
NM_000277.3(PAH):c.890G>A (p.Arg297His) rs62642939
NM_000277.3(PAH):c.894C>T (p.Ser298=) rs765823928
NM_000277.3(PAH):c.896T>G (p.Phe299Cys) rs62642933
NM_000277.3(PAH):c.898G>T (p.Ala300Ser) rs5030853
NM_000277.3(PAH):c.912+1G>A rs62514956
NM_000277.3(PAH):c.912G>A (p.Gln304=) rs199475583
NM_000277.3(PAH):c.913-2A>G
NM_000277.3(PAH):c.916A>G (p.Ile306Val) rs62642934
NM_000277.3(PAH):c.926C>T (p.Ala309Val) rs62642935
NM_000277.3(PAH):c.929C>T (p.Ser310Phe) rs62642913
NM_000277.3(PAH):c.940C>A (p.Pro314Thr) rs199475650
NM_000277.3(PAH):c.963C>T (p.Leu321=) rs61747292
NM_000277.3(PAH):c.964G>A (p.Ala322Thr) rs62514957
NM_000277.3(PAH):c.965C>G (p.Ala322Gly) rs62514958
NM_000277.3(PAH):c.969+1G>A rs62508584
NM_000277.3(PAH):c.969+6T>A rs62517196
NM_000277.3(PAH):c.969+7C>T rs80324017
NM_000277.3(PAH):c.974A>G (p.Tyr325Cys) rs62508578
NM_000277.3(PAH):c.975C>G (p.Tyr325Ter) rs62508573
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+2T>C rs1553638247
NM_000481.3(AMT):c.1034-1G>C rs1575302765
NM_000481.3(AMT):c.339+1G>A rs1575308129
NM_000481.3(AMT):c.339+3G>T rs752570901
NM_000481.3(AMT):c.471+2T>C rs386833684
NM_000481.3(AMT):c.696+2T>A rs541594122
NM_000481.3(AMT):c.697-3C>T rs373703503
NM_000481.3(AMT):c.878-1G>A rs181134220
NM_000481.3(AMT):c.91-9C>T rs761235679
NM_000481.4(AMT):c.1029G>A (p.Lys343=) rs1553638253
NM_000481.4(AMT):c.1062C>A (p.Pro354=) rs377227163
NM_000481.4(AMT):c.1082C>T (p.Ala361Val) rs757293245
NM_000481.4(AMT):c.1097C>T (p.Pro366Leu)
NM_000481.4(AMT):c.1112G>A (p.Arg371His) rs147006017
NM_000481.4(AMT):c.1138G>A (p.Val380Met)
NM_000481.4(AMT):c.1145G>A (p.Arg382Gln) rs141246107
NM_000481.4(AMT):c.1157T>C (p.Met386Thr) rs757170367
NM_000481.4(AMT):c.123C>T (p.Phe41=) rs774066970
NM_000481.4(AMT):c.126C>T (p.His42=) rs761195733
NM_000481.4(AMT):c.130G>A (p.Ala44Thr)
NM_000481.4(AMT):c.139G>A (p.Gly47Arg) rs121964982
NM_000481.4(AMT):c.148G>T (p.Val50Leu) rs148917929
NM_000481.4(AMT):c.158C>T (p.Ala53Val)
NM_000481.4(AMT):c.15_18del (p.Ser6fs) rs1553638904
NM_000481.4(AMT):c.164G>A (p.Trp55Ter) rs1559530507
NM_000481.4(AMT):c.174A>G (p.Pro58=) rs1356238437
NM_000481.4(AMT):c.217C>T (p.Arg73Cys) rs386833679
NM_000481.4(AMT):c.230C>T (p.Ser77Leu) rs386833680
NM_000481.4(AMT):c.231G>A (p.Ser77=) rs779002947
NM_000481.4(AMT):c.256C>T (p.Gln86Ter) rs1575308888
NM_000481.4(AMT):c.354G>A (p.Leu118=) rs145194293
NM_000481.4(AMT):c.363C>T (p.Asn121=) rs367604855
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.434A>G (p.Asn145Ser)
NM_000481.4(AMT):c.436G>A (p.Ala146Thr) rs570868528
NM_000481.4(AMT):c.452_466del (p.Lys151_Leu155del) rs386833683
NM_000481.4(AMT):c.471+9C>T rs760770619
NM_000481.4(AMT):c.476A>G (p.Lys159Arg) rs1553638556
NM_000481.4(AMT):c.510G>C (p.Val170=) rs140380954
NM_000481.4(AMT):c.555C>T (p.Pro185=) rs144790394
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.631G>A (p.Glu211Lys) rs116192290
NM_000481.4(AMT):c.635T>C (p.Val212Ala) rs201141125
NM_000481.4(AMT):c.664C>T (p.Arg222Cys) rs781466698
NM_000481.4(AMT):c.685G>C (p.Asp229His) rs1553638463
NM_000481.4(AMT):c.696+10G>T rs750787542
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.734_735del (p.Thr245fs)
NM_000481.4(AMT):c.752C>G (p.Pro251Arg) rs770999859
NM_000481.4(AMT):c.789C>T (p.Ser263=) rs753177107
NM_000481.4(AMT):c.78T>C (p.Leu26=) rs764624214
NM_000481.4(AMT):c.794G>A (p.Arg265His) rs757918826
NM_000481.4(AMT):c.825T>A (p.Asn275Lys) rs144241950
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.886C>T (p.Arg296Cys) rs1056820947
NM_000481.4(AMT):c.887G>A (p.Arg296His) rs386833690
NM_000481.4(AMT):c.892G>A (p.Ala298Thr)
NM_000481.4(AMT):c.898A>G (p.Met300Val) rs144971200
NM_000481.4(AMT):c.958C>T (p.Arg320Cys) rs866625610
NM_000481.4(AMT):c.959G>A (p.Arg320His) rs121964985
NM_000481.4(AMT):c.961G>A (p.Val321Met) rs149457059
NM_000481.4(AMT):c.962T>C (p.Val321Ala) rs766509002
NM_001024845.3(SLC6A9):c.1146G>A (p.Pro382=) rs76354303
NM_001024845.3(SLC6A9):c.120C>T (p.Ser40=) rs571004944
NM_001024845.3(SLC6A9):c.1537-6G>A rs113184612
NM_001024845.3(SLC6A9):c.1653C>T (p.Ile551=) rs202054416
NM_001024845.3(SLC6A9):c.1810G>A (p.Gly604Ser) rs61733177
NM_001024845.3(SLC6A9):c.31-697C>G rs187474842
NM_001024845.3(SLC6A9):c.461A>G (p.His154Arg)
NM_001024845.3(SLC6A9):c.468C>T (p.Cys156=) rs777756958
NM_001024845.3(SLC6A9):c.472G>A (p.Gly158Ser) rs61741712
NM_001024845.3(SLC6A9):c.517G>A (p.Ala173Thr) rs142642003
NM_001024845.3(SLC6A9):c.528C>T (p.Ser176=) rs139332952
NM_001024845.3(SLC6A9):c.535T>C (p.Ser179Pro) rs201636712
NM_001024845.3(SLC6A9):c.64G>A (p.Asp22Asn)
NM_001024845.3(SLC6A9):c.654T>C (p.Leu218=) rs140091591
NM_001024845.3(SLC6A9):c.664G>A (p.Gly222Ser) rs143087050
NM_001024845.3(SLC6A9):c.705G>C (p.Gly235=) rs72890664
NM_001024845.3(SLC6A9):c.832C>T (p.Gln278Ter) rs201437896
NM_001024845.3(SLC6A9):c.960C>T (p.Tyr320=) rs61733181
NM_001032386.2(SUOX):c.1050T>C (p.Tyr350=) rs184819190
NM_001032386.2(SUOX):c.119G>A (p.Arg40His) rs117778870
NM_001032386.2(SUOX):c.1281G>T (p.Ser427=) rs773115
NM_001032386.2(SUOX):c.1297C>T (p.Arg433Trp) rs61733163
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.1358G>A (p.Gly453Asp) rs76537761
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.186A>T (p.Leu62Phe) rs1347179760
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.363dup (p.Pro122fs) rs1555198521
NM_001032386.2(SUOX):c.50+9G>A rs368327991
NM_001032386.2(SUOX):c.574C>T (p.Arg192Trp) rs139444405
NM_001032386.2(SUOX):c.596C>T (p.Pro199Leu) rs769660984
NM_001032386.2(SUOX):c.629C>T (p.Pro210Leu) rs141735896
NM_001032386.2(SUOX):c.650G>A (p.Arg217Gln) rs121908007
NM_001032386.2(SUOX):c.890G>A (p.Arg297Gln)
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.977C>A (p.Thr326Asn) rs540920017
NM_001032386.2(SUOX):c.98del (p.Asn33fs) rs773937413
NM_001289910.1(IDH2):c.1148C>T (p.Thr383Met) rs118053940
NM_001289910.1(IDH2):c.171G>A (p.Val57=) rs150943639
NM_001289910.1(IDH2):c.204G>A (p.Glu68=) rs536071174
NM_001289910.1(IDH2):c.263G>A (p.Arg88Gln) rs121913502
NM_001289910.1(IDH2):c.273G>C (p.Leu91=) rs144712130
NM_001289910.1(IDH2):c.432C>G (p.Phe144Leu) rs758536587
NM_001289910.1(IDH2):c.517G>A (p.Asp173Asn) rs142816010
NM_001289910.1(IDH2):c.626G>A (p.Arg209His) rs118101777
NM_001289910.1(IDH2):c.688A>G (p.Lys230Glu) rs771346231
NM_001289910.1(IDH2):c.783A>G (p.Gly261=) rs16943901
NM_001289910.1(IDH2):c.837G>A (p.Thr279=) rs61737002
NM_001289910.1(IDH2):c.882C>T (p.Ala294=) rs190078206
NM_001289910.1(IDH2):c.894C>T (p.Thr298=) rs11540478
NM_001289910.1(IDH2):c.973C>T (p.Arg325Cys) rs765712414
NM_001321336.1(SPATA22):c.-74+14393_-74+14396del rs766720790
NM_001358530.2(MOCS1):c.1000dup (p.Ser334fs)
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.1064T>C (p.Ile355Thr) rs143912353
NM_001358530.2(MOCS1):c.1106T>A (p.Met369Lys)
NM_001358530.2(MOCS1):c.1150G>A (p.Glu384Lys) rs751603831
NM_001358530.2(MOCS1):c.124-69G>A rs45487695
NM_001358530.2(MOCS1):c.156G>C (p.Glu52Asp) rs766904353
NM_001358530.2(MOCS1):c.330C>T (p.Leu110=) rs61746375
NM_001358530.2(MOCS1):c.519T>G (p.Ser173Arg) rs61732596
NM_001358530.2(MOCS1):c.644A>G (p.Lys215Arg) rs887485143
NM_001358530.2(MOCS1):c.645+9G>C rs73732319
NM_001358530.2(MOCS1):c.719C>T (p.Pro240Leu)
NM_001358530.2(MOCS1):c.814C>T (p.Arg272Trp) rs146944225
NM_001358530.2(MOCS1):c.853G>A (p.Glu285Lys) rs140243105
NM_001609.3(ACADSB):c.1014C>T (p.His338=) rs57339164
NM_001609.3(ACADSB):c.1128+2_1128+3insTA rs1554874107
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.1159G>A (p.Glu387Lys) rs188094280
NM_001609.3(ACADSB):c.1165A>G (p.Met389Val) rs201877440
NM_001609.3(ACADSB):c.1168G>A (p.Gly390Arg) rs764095189
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.1271T>C (p.Ile424Thr) rs748926593
NM_001609.3(ACADSB):c.168A>G (p.Thr56=) rs34221067
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.303+1G>A rs147936696
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.42G>A (p.Leu14=) rs745863047
NM_001609.3(ACADSB):c.443C>T (p.Thr148Ile) rs58639322
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.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.958A>T (p.Ile320Leu) rs1554873785
NM_001609.4(ACADSB):c.1060G>A (p.Ala354Thr)
NM_001609.4(ACADSB):c.1101G>A (p.Ala367=) rs145295182
NM_001609.4(ACADSB):c.1102T>C (p.Ser368Pro)
NM_001609.4(ACADSB):c.1232C>T (p.Thr411Met)
NM_001609.4(ACADSB):c.375dup (p.Glu126fs) rs756587384
NM_001609.4(ACADSB):c.452G>A (p.Arg151Lys) rs140747102
NM_001609.4(ACADSB):c.653dup (p.Val219fs)
NM_001609.4(ACADSB):c.726G>A (p.Pro242=) rs148114788
NM_002168.3(IDH2):c.23T>C (p.Val8Ala) rs369445642
NM_002168.4(IDH2):c.1003G>A (p.Val335Ile) rs140596855
NM_002168.4(IDH2):c.120C>T (p.Ala40=) rs148974231
NM_002168.4(IDH2):c.1302C>G (p.Thr434=) rs150574164
NM_002168.4(IDH2):c.137T>A (p.Val46Glu)
NM_002168.4(IDH2):c.141G>A (p.Ala47=) rs145802942
NM_002168.4(IDH2):c.207+4G>A rs77995170
NM_002168.4(IDH2):c.276T>C (p.Thr92=) rs774212594
NM_002168.4(IDH2):c.293T>C (p.Ile98Thr)
NM_002168.4(IDH2):c.535-6C>T rs760220786
NM_002168.4(IDH2):c.942T>C (p.Asp314=) rs142721369
NM_003748.4(ALDH4A1):c.1070C>T (p.Pro357Leu)
NM_003748.4(ALDH4A1):c.1073A>G (p.His358Arg) rs145243354
NM_003748.4(ALDH4A1):c.1086G>A (p.Pro362=) rs41310410
NM_003748.4(ALDH4A1):c.108C>T (p.Pro36=) rs768297819
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.1162T>C (p.Phe388Leu) rs41273175
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.1261T>C (p.Cys421Arg) rs149414160
NM_003748.4(ALDH4A1):c.135T>G (p.Pro45=) rs147154947
NM_003748.4(ALDH4A1):c.1377G>C (p.Pro459=) rs146222625
NM_003748.4(ALDH4A1):c.1385A>C (p.Lys462Thr) rs150762865
NM_003748.4(ALDH4A1):c.1417A>G (p.Thr473Ala) rs6695033
NM_003748.4(ALDH4A1):c.1439G>A (p.Gly480Glu) rs762708368
NM_003748.4(ALDH4A1):c.1548C>T (p.Gly516=) rs61749348
NM_003748.4(ALDH4A1):c.1583C>A (p.Thr528Asn) rs61757683
NM_003748.4(ALDH4A1):c.1625C>T (p.Thr542Met) rs771061582
NM_003748.4(ALDH4A1):c.1631C>T (p.Pro544Leu) rs72953172
NM_003748.4(ALDH4A1):c.16C>T (p.Pro6Ser)
NM_003748.4(ALDH4A1):c.225G>A (p.Thr75=) rs79920636
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.298-1G>C rs1557620472
NM_003748.4(ALDH4A1):c.337C>T (p.Arg113Trp) rs142923662
NM_003748.4(ALDH4A1):c.413C>T (p.Pro138Leu) rs139640415
NM_003748.4(ALDH4A1):c.433G>A (p.Ala145Thr) rs113846237
NM_003748.4(ALDH4A1):c.47C>T (p.Pro16Leu) rs146450609
NM_003748.4(ALDH4A1):c.584C>T (p.Thr195Met) rs72936434
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.744C>T (p.Ile248=) rs60427141
NM_003748.4(ALDH4A1):c.842G>T (p.Gly281Val)
NM_003748.4(ALDH4A1):c.866+1G>A rs78532707
NM_004483.4(GCSH):c.252T>C (p.Tyr84=) rs8177907
NM_004483.4(GCSH):c.261C>G (p.Leu87=) rs8177908
NM_004483.4(GCSH):c.292+9T>G rs8177909
NM_004483.4(GCSH):c.293-4T>C rs1555529308
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.218A>G (p.Asn73Ser) rs8177877
NM_004483.5(GCSH):c.22A>G (p.Ser8Gly) rs546860042
NM_004483.5(GCSH):c.293-16dup rs202181338
NM_004483.5(GCSH):c.31G>A (p.Ala11Thr)
NM_004483.5(GCSH):c.329G>A (p.Ser110Asn) rs779721507
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.72G>T (p.Ala24=) rs1010129827
NM_004483.5(GCSH):c.75C>T (p.Pro25=) rs958918692
NM_004483.5(GCSH):c.77G>A (p.Cys26Tyr) rs1443267686
NM_004483.5(GCSH):c.84G>A (p.Pro28=) rs775381594
NM_004483.5(GCSH):c.89C>T (p.Pro30Leu) rs1003539348
NM_004483.5(GCSH):c.90C>G (p.Pro30=) rs8177847
NM_005881.4(BCKDK):c.1066A>T (p.Ser356Cys) rs142542453
NM_005881.4(BCKDK):c.1218G>A (p.Arg406=) rs145180240
NM_005881.4(BCKDK):c.181G>T (p.Ala61Ser) rs73530211
NM_005881.4(BCKDK):c.193A>G (p.Lys65Glu) rs1596808163
NM_005881.4(BCKDK):c.196-8del rs1596808347
NM_005881.4(BCKDK):c.372C>T (p.His124=) rs148112682
NM_005881.4(BCKDK):c.373G>A (p.Val125Met) rs141282419
NM_005881.4(BCKDK):c.588G>A (p.Ser196=) rs150773521
NM_005881.4(BCKDK):c.717-5C>T rs1291981908
NM_005881.4(BCKDK):c.721C>T (p.Leu241=) rs374121679
NM_005881.4(BCKDK):c.845+10C>T rs74015068
NM_005881.4(BCKDK):c.851C>T (p.Thr284Ile)
NM_005881.4(BCKDK):c.936-10A>G rs374677650
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.1173C>T (p.Ser391=) rs3970556
NM_016335.5(PRODH):c.1217C>T (p.Pro406Leu) rs3970555
NM_016335.5(PRODH):c.1279G>A (p.Val427Met) rs2238731
NM_016335.5(PRODH):c.1322T>C (p.Leu441Pro) rs2904551
NM_016335.5(PRODH):c.1362G>A (p.Ala454=) rs2238730
NM_016335.5(PRODH):c.1374C>A (p.Gly458=) rs2904550
NM_016335.5(PRODH):c.1397C>T (p.Thr466Met) rs2870984
NM_016335.5(PRODH):c.1418T>C (p.Met473Thr) rs1555890224
NM_016335.5(PRODH):c.1440C>T (p.Tyr480=) rs5992333
NM_016335.5(PRODH):c.1463A>G (p.Asn488Ser) rs139903009
NM_016335.5(PRODH):c.14G>A (p.Arg5His) rs549947897
NM_016335.5(PRODH):c.172G>A (p.Ala58Thr) rs146648839
NM_016335.5(PRODH):c.21G>A (p.Leu7=) rs539772713
NM_016335.5(PRODH):c.23C>T (p.Pro8Leu) rs181332931
NM_016335.5(PRODH):c.391C>T (p.Arg131Trp) rs753625227
NM_016335.5(PRODH):c.417C>T (p.Ser139=) rs1414061185
NM_016335.5(PRODH):c.42T>C (p.Ile14=) rs761010757
NM_016335.5(PRODH):c.553= (p.Trp185=) rs4819756
NM_016335.5(PRODH):c.554G>A (p.Trp185Ter) rs11913840
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_016335.6(PRODH):c.1562= (p.Arg521=) rs450046
NM_016335.6(PRODH):c.1623C>G (p.Ala541=) rs16983347
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.1173T>C (p.Asp391=) rs147709250
NM_020806.4(GPHN):c.1191T>C (p.Asn397=) rs535587671
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.127G>T (p.Val43Leu) rs117256383
NM_020806.4(GPHN):c.1333A>C (p.Thr445Pro) rs1595179146
NM_020806.4(GPHN):c.1414-10G>C rs1595186662
NM_020806.4(GPHN):c.1414-4A>C rs111956954
NM_020806.4(GPHN):c.144-10C>T rs199759192
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.165A>G (p.Ala55=) rs753182110
NM_020806.4(GPHN):c.1666C>T (p.Arg556Ter) rs1595241291
NM_020806.4(GPHN):c.1678C>T (p.Arg560Cys) rs1567363565
NM_020806.4(GPHN):c.1734T>C (p.Gly578=) rs77465022
NM_020806.4(GPHN):c.1766A>G (p.Asn589Ser) rs903197780
NM_020806.4(GPHN):c.1797T>C (p.Asp599=) rs41285476
NM_020806.4(GPHN):c.1911-3T>C rs534360121
NM_020806.4(GPHN):c.1911-6T>C rs369800026
NM_020806.4(GPHN):c.1911-7C>T rs201555766
NM_020806.4(GPHN):c.1944T>C (p.Asp648=) rs761997982
NM_020806.4(GPHN):c.1946G>T (p.Gly649Val) rs1555506781
NM_020806.4(GPHN):c.1971A>C (p.Leu657=) rs150799851
NM_020806.4(GPHN):c.2124G>A (p.Arg708=) rs761412853
NM_020806.4(GPHN):c.2176+9T>C rs74939746
NM_020806.4(GPHN):c.2192G>C (p.Ser731Thr) rs142608987
NM_020806.4(GPHN):c.2226G>T (p.Leu742Phe) rs1567459862
NM_020806.4(GPHN):c.26C>G (p.Thr9Ser) rs150226537
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.327A>G (p.Pro109=) rs1555430196
NM_020806.4(GPHN):c.369A>G (p.Thr123=) rs767272331
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.633A>G (p.Gln211=) rs151322023
NM_020806.4(GPHN):c.64+8G>C rs201245603
NM_020806.4(GPHN):c.651A>G (p.Glu217=) rs1009464001
NM_020806.4(GPHN):c.716C>G (p.Ala239Gly) rs746967730
NM_020806.4(GPHN):c.800A>G (p.Asn267Ser) rs41285470
NM_020806.4(GPHN):c.826C>T (p.Arg276Trp) rs777009433
NM_020806.4(GPHN):c.86A>G (p.Asn29Ser) rs144247888
NM_020806.4(GPHN):c.963+10G>A rs41310850
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.2079+2T>C
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_024884.3(L2HGDH):c.1032T>G (p.Ser344Arg) rs1273518496
NM_024884.3(L2HGDH):c.1100A>G (p.Tyr367Cys) rs115954396
NM_024884.3(L2HGDH):c.1174A>G (p.Ile392Val) rs373172891
NM_024884.3(L2HGDH):c.1177A>G (p.Thr393Ala) rs150157112
NM_024884.3(L2HGDH):c.1269A>G (p.Ala423=) rs369101323
NM_024884.3(L2HGDH):c.1353A>G (p.Gly451=) rs192927318
NM_024884.3(L2HGDH):c.1372C>A (p.Gln458Lys)
NM_024884.3(L2HGDH):c.137C>T (p.Thr46Ile) rs201806251
NM_024884.3(L2HGDH):c.208C>T (p.Arg70Ter) rs937345512
NM_024884.3(L2HGDH):c.275A>G (p.His92Arg) rs140209047
NM_024884.3(L2HGDH):c.336A>G (p.Leu112=) rs59390116
NM_024884.3(L2HGDH):c.530del (p.Pro177fs) rs766538932
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.600G>A (p.Leu200=) rs748499389
NM_024884.3(L2HGDH):c.647A>G (p.Asn216Ser) rs574500803
NM_024884.3(L2HGDH):c.663T>C (p.Gly221=) rs201951588
NM_024884.3(L2HGDH):c.6G>T (p.Val2=) rs113626637
NM_024884.3(L2HGDH):c.70C>T (p.Pro24Ser) rs749417358
NM_024884.3(L2HGDH):c.756T>C (p.Cys252=) rs141562044
NM_024884.3(L2HGDH):c.794G>A (p.Arg265His)
NM_024884.3(L2HGDH):c.829C>T (p.Arg277Ter)
NM_024884.3(L2HGDH):c.845G>A (p.Arg282Gln)
NM_024884.3(L2HGDH):c.99G>T (p.Arg33Ser) rs35710558
NM_152783.5(D2HGDH):c.1039G>A (p.Ala347Thr)
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.1127A>G (p.Gln376Arg) rs1575286670
NM_152783.5(D2HGDH):c.1140+8G>A rs369135156
NM_152783.5(D2HGDH):c.1183C>T (p.Arg395Trp) rs149628174
NM_152783.5(D2HGDH):c.1258G>A (p.Ala420Thr) rs149504235
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.1308A>G (p.Gly436=) rs113782371
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.1386C>T (p.Tyr462=) rs201294258
NM_152783.5(D2HGDH):c.1395G>A (p.Thr465=) rs111670322
NM_152783.5(D2HGDH):c.1421C>T (p.Ala474Val) rs369324431
NM_152783.5(D2HGDH):c.1476G>A (p.Pro492=) rs140096524
NM_152783.5(D2HGDH):c.292+9G>A rs148813816
NM_152783.5(D2HGDH):c.351-8C>T rs368141783
NM_152783.5(D2HGDH):c.423C>T (p.Pro141=) rs142473303
NM_152783.5(D2HGDH):c.483C>T (p.Ser161=)
NM_152783.5(D2HGDH):c.515G>A (p.Cys172Tyr)
NM_152783.5(D2HGDH):c.642del (p.Arg215fs) rs1559361049
NM_152783.5(D2HGDH):c.659A>G (p.His220Arg) rs112424377
NM_152783.5(D2HGDH):c.720C>A (p.Thr240=) rs147210645
NM_152783.5(D2HGDH):c.853+2T>C rs1559364994
NM_152783.5(D2HGDH):c.963C>T (p.Val321=) rs141524359
NM_152783.5(D2HGDH):c.990G>A (p.Pro330=) rs142073267

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