ClinVar Miner

List of variants reported as uncertain significance for classic organic aciduria

Included ClinVar conditions (39):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 1186
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HGVS dbSNP
NC_000006.11:g.(?_49407899)_(49427199_?)dup
NC_000021.8:g.(?_37133458)_(38311203_?)dup
NC_000023.10:g.(?_153640161)_(153649363_?)dup
NM_000019.3(ACAT1):c.*214G>C rs145690535
NM_000019.3(ACAT1):c.*234_*235delCT rs1295289344
NM_000019.3(ACAT1):c.*291A>C rs771132416
NM_000019.3(ACAT1):c.*344T>C rs776705661
NM_000019.3(ACAT1):c.*393A>G rs886047601
NM_000019.3(ACAT1):c.*464A>G rs886047602
NM_000019.3(ACAT1):c.*467_*470dupATCA rs537463051
NM_000019.3(ACAT1):c.*553T>A rs183999318
NM_000019.3(ACAT1):c.*591A>T rs886047604
NM_000019.3(ACAT1):c.*675A>C rs886047605
NM_000019.3(ACAT1):c.*703T>C rs188826374
NM_000019.3(ACAT1):c.*753C>T rs186239800
NM_000019.3(ACAT1):c.-70T>A rs566741161
NM_000019.3(ACAT1):c.1006-10_1006-9ins171
NM_000019.4(ACAT1):c.*107dup rs886047598
NM_000019.4(ACAT1):c.*123_*127dup rs556749538
NM_000019.4(ACAT1):c.*55T>C rs886047597
NM_000019.4(ACAT1):c.-22C>T rs3741054
NM_000019.4(ACAT1):c.1006-10A>G rs886047596
NM_000019.4(ACAT1):c.1068T>C (p.Phe356=) rs139657823
NM_000019.4(ACAT1):c.1105A>G (p.Ile369Val)
NM_000019.4(ACAT1):c.1167G>A (p.Met389Ile)
NM_000019.4(ACAT1):c.1198C>T (p.His400Tyr) rs201183545
NM_000019.4(ACAT1):c.1199A>G (p.His400Arg) rs761086326
NM_000019.4(ACAT1):c.121-3C>G
NM_000019.4(ACAT1):c.1217A>G (p.Glu406Gly) rs147872303
NM_000019.4(ACAT1):c.1222G>C (p.Gly408Arg) rs553101581
NM_000019.4(ACAT1):c.1229C>T (p.Ala410Val) rs767412638
NM_000019.4(ACAT1):c.1253G>A (p.Gly418Asp) rs886042080
NM_000019.4(ACAT1):c.15G>C (p.Ala5=) rs886047594
NM_000019.4(ACAT1):c.163_167delinsAA (p.Phe55_Leu56delinsLys)
NM_000019.4(ACAT1):c.274G>A (p.Gly92Ser)
NM_000019.4(ACAT1):c.291A>T (p.Gly97=) rs746216662
NM_000019.4(ACAT1):c.299G>A (p.Gly100Glu)
NM_000019.4(ACAT1):c.29G>A (p.Ser10Asn) rs886047595
NM_000019.4(ACAT1):c.301C>A (p.Gln101Lys)
NM_000019.4(ACAT1):c.436-4G>A rs3741050
NM_000019.4(ACAT1):c.460G>A (p.Glu154Lys)
NM_000019.4(ACAT1):c.532T>C (p.Leu178=) rs370063325
NM_000019.4(ACAT1):c.534G>T (p.Leu178Phe)
NM_000019.4(ACAT1):c.602C>T (p.Ala201Val)
NM_000019.4(ACAT1):c.622C>G (p.Arg208Gly)
NM_000019.4(ACAT1):c.664A>C (p.Ser222Arg)
NM_000019.4(ACAT1):c.760G>A (p.Glu254Lys)
NM_000019.4(ACAT1):c.764A>C (p.Glu255Ala)
NM_000019.4(ACAT1):c.765A>T (p.Glu255Asp) rs794727893
NM_000019.4(ACAT1):c.770A>C (p.Lys257Thr) rs370652435
NM_000019.4(ACAT1):c.829A>C (p.Thr277Pro)
NM_000019.4(ACAT1):c.851G>A (p.Ser284Asn)
NM_000019.4(ACAT1):c.854C>T (p.Thr285Ile)
NM_000019.4(ACAT1):c.903G>A (p.Ala301=) rs75811190
NM_000019.4(ACAT1):c.941-14_941-13insCT rs1555034894
NM_000019.4(ACAT1):c.947_949dup (p.Ala316dup)
NM_000019.4(ACAT1):c.967A>G (p.Ile323Val) rs1282394804
NM_000019.4(ACAT1):c.979A>G (p.Ile327Val) rs150038447
NM_000060.3(BTD):c.310-15delT rs587783008
NM_000060.3:c.*159G>A
NM_000060.3:c.1102G>A
NM_000060.3:c.1136A>G
NM_000060.3:c.1394G>T
NM_000060.3:c.1596G>A
NM_000060.3:c.239A>C
NM_000116.5(TAZ):c.*387C>T rs1057515819
NM_000116.5(TAZ):c.110-17= rs62617809
NM_000116.5(TAZ):c.238+6C>T
NM_000116.5(TAZ):c.238G>A (p.Gly80Arg) rs1557191170
NM_000116.5(TAZ):c.284+4A>T
NM_000116.5(TAZ):c.299C>T (p.Ala100Val) rs1569552722
NM_000116.5(TAZ):c.331C>T (p.His111Tyr) rs200405157
NM_000116.5(TAZ):c.416A>T (p.Asp139Val)
NM_000116.5(TAZ):c.460+1G>A rs878853655
NM_000116.5(TAZ):c.469G>A (p.Val157Ile)
NM_000116.5(TAZ):c.504G>A (p.Lys168=) rs1057515818
NM_000116.5(TAZ):c.51G>T (p.Trp17Cys)
NM_000116.5(TAZ):c.535C>G (p.Pro179Ala) rs397515744
NM_000116.5(TAZ):c.562G>A (p.Glu188Lys)
NM_000116.5(TAZ):c.576C>G (p.Phe192Leu)
NM_000116.5(TAZ):c.583G>A (p.Gly195Arg) rs878853656
NM_000116.5(TAZ):c.606G>C (p.Glu202Asp)
NM_000116.5(TAZ):c.647G>A (p.Gly216Glu)
NM_000116.5(TAZ):c.674C>T (p.Pro225Leu) rs375151766
NM_000116.5(TAZ):c.689G>A (p.Arg230His)
NM_000116.5(TAZ):c.751C>T (p.Arg251Trp) rs372689133
NM_000116.5(TAZ):c.754_763del (p.Leu252fs) rs1557194381
NM_000116.5(TAZ):c.758G>A (p.Arg253Gln) rs782653725
NM_000116.5(TAZ):c.763G>A (p.Glu255Lys) rs782498694
NM_000116.5(TAZ):c.768C>G (p.Asn256Lys) rs926124671
NM_000116.5(TAZ):c.777+6T>C
NM_000116.5(TAZ):c.790A>G (p.Lys264Glu) rs1557194488
NM_000191.3(HMGCL):c.*104G>A rs552915017
NM_000191.3(HMGCL):c.*194C>G rs192071003
NM_000191.3(HMGCL):c.*289G>T rs369514739
NM_000191.3(HMGCL):c.*290T>C rs886046311
NM_000191.3(HMGCL):c.*414G>A rs886046310
NM_000191.3(HMGCL):c.208G>C (p.Val70Leu) rs121964996
NM_000191.3(HMGCL):c.218C>A (p.Thr73Asn)
NM_000191.3(HMGCL):c.254T>C (p.Met85Thr) rs886046314
NM_000191.3(HMGCL):c.470C>T (p.Ala157Val)
NM_000191.3(HMGCL):c.493C>T (p.Arg165Trp) rs764039230
NM_000191.3(HMGCL):c.497+3G>A rs763178392
NM_000191.3(HMGCL):c.497+4A>G rs568718845
NM_000191.3(HMGCL):c.498-10C>A rs373505626
NM_000191.3(HMGCL):c.502G>A (p.Val168Ile)
NM_000191.3(HMGCL):c.594C>T (p.Tyr198=) rs139799938
NM_000191.3(HMGCL):c.602C>A (p.Ser201Tyr) rs760106433
NM_000191.3(HMGCL):c.608G>A (p.Gly203Glu) rs1553131940
NM_000191.3(HMGCL):c.624G>A (p.Val208=)
NM_000191.3(HMGCL):c.629C>T (p.Thr210Ile)
NM_000191.3(HMGCL):c.630C>T (p.Thr210=) rs886046313
NM_000191.3(HMGCL):c.678_686dup (p.Ala229_Ala231dup) rs1553131921
NM_000191.3(HMGCL):c.708C>T (p.Asp236=) rs886046312
NM_000191.3(HMGCL):c.734C>T (p.Thr245Ile) rs761468576
NM_000191.3(HMGCL):c.750+14T>A rs778868742
NM_000191.3(HMGCL):c.796T>C (p.Cys266Arg) rs757884073
NM_000191.3(HMGCL):c.800C>A (p.Pro267His)
NM_000191.3(HMGCL):c.825C>G (p.Asn275Lys) rs1287973337
NM_000191.3(HMGCL):c.828G>A (p.Leu276=) rs771024022
NM_000191.3(HMGCL):c.853del (p.Met284_Leu285insTer) rs779339230
NM_000191.3(HMGCL):c.945C>G (p.Ser315Arg) rs1557484629
NM_000191.3(HMGCL):c.958C>T (p.Gln320Ter) rs1553131326
NM_000191.3(HMGCL):c.976T>C (p.Ter326Arg) rs1553131320
NM_000191.3(HMGCL):c.977G>C (p.Ter326Ser) rs1303767209
NM_000255.4(MMUT):c.-35G>T rs483352795
NM_000255.4(MMUT):c.1115T>C (p.Ile372Thr) rs150968643
NM_000255.4(MMUT):c.1156C>A (p.His386Asn) rs1554159937
NM_000255.4(MMUT):c.1208G>A (p.Arg403Gln) rs774457503
NM_000255.4(MMUT):c.1219A>T (p.Asn407Tyr) rs576536579
NM_000255.4(MMUT):c.1324G>C (p.Ala442Pro) rs1554159871
NM_000255.4(MMUT):c.1332+3A>C rs367641890
NM_000255.4(MMUT):c.1355T>A (p.Met452Lys)
NM_000255.4(MMUT):c.1417G>T (p.Ala473Ser) rs188766510
NM_000255.4(MMUT):c.1421G>A (p.Arg474Gln)
NM_000255.4(MMUT):c.1429G>A (p.Ala477Thr)
NM_000255.4(MMUT):c.1669C>T (p.Arg557Trp) rs886061559
NM_000255.4(MMUT):c.1679G>A (p.Cys560Tyr) rs1238333040
NM_000255.4(MMUT):c.1777G>C (p.Glu593Gln)
NM_000255.4(MMUT):c.1790T>G (p.Ile597Arg) rs1554158951
NM_000255.4(MMUT):c.1844C>G (p.Pro615Arg) rs1554158777
NM_000255.4(MMUT):c.1850T>G (p.Leu617Arg) rs1554158775
NM_000255.4(MMUT):c.1865T>C (p.Met622Thr)
NM_000255.4(MMUT):c.191C>T (p.Pro64Leu) rs575038087
NM_000255.4(MMUT):c.1956+2T>C rs750619189
NM_000255.4(MMUT):c.1991C>T (p.Ala664Val) rs137958217
NM_000255.4(MMUT):c.2125-2A>G rs1561948924
NM_000255.4(MMUT):c.2197G>A (p.Val733Ile) rs1183369398
NM_000255.4(MMUT):c.2206C>T (p.Leu736Phe) rs753461919
NM_000255.4(MMUT):c.260G>A (p.Gly87Glu) rs1554160986
NM_000255.4(MMUT):c.277C>T (p.Arg93Cys) rs746274670
NM_000255.4(MMUT):c.284C>T (p.Pro95Leu) rs190834116
NM_000255.4(MMUT):c.292A>C (p.Thr98Pro)
NM_000255.4(MMUT):c.38C>T (p.Pro13Leu) rs1057518979
NM_000255.4(MMUT):c.395A>T (p.Gln132Leu)
NM_000255.4(MMUT):c.41A>T (p.His14Leu) rs886061561
NM_000255.4(MMUT):c.421G>A (p.Ala141Thr) rs1554160730
NM_000255.4(MMUT):c.556A>G (p.Met186Val) rs148331800
NM_000255.4(MMUT):c.647C>A (p.Thr216Asn) rs1554160650
NM_000255.4(MMUT):c.656A>G (p.Asn219Ser)
NM_000255.4(MMUT):c.669_674dup (p.Phe225_Met226insLeuGlu) rs1554160637
NM_000255.4(MMUT):c.694_700delinsCTTTTTT (p.Ile232_Pro234delinsLeuPheSer)
NM_000255.4(MMUT):c.836A>G (p.Tyr279Cys) rs2228282
NM_000255.4(MMUT):c.915_920del (p.Leu305_Ser306del) rs1561957516
NM_000255.4(MMUT):c.917C>T (p.Ser306Phe) rs1085307929
NM_000282.4(PCCA):c.*115C>T rs41281122
NM_000282.4(PCCA):c.*116G>A rs886049929
NM_000282.4(PCCA):c.*159T>G rs113356477
NM_000282.4(PCCA):c.*190C>G rs41281124
NM_000282.4(PCCA):c.*190C>T rs41281124
NM_000282.4(PCCA):c.-5C>T rs886049926
NM_000282.4(PCCA):c.1065+5C>T rs201597816
NM_000282.4(PCCA):c.1071G>T (p.Glu357Asp) rs761295534
NM_000282.4(PCCA):c.1102G>C (p.Asp368His) rs1555411121
NM_000282.4(PCCA):c.1114G>A (p.Glu372Lys) rs1566896430
NM_000282.4(PCCA):c.1193G>C (p.Cys398Ser)
NM_000282.4(PCCA):c.1195C>T (p.Arg399Trp)
NM_000282.4(PCCA):c.1236A>G (p.Pro412=) rs41281120
NM_000282.4(PCCA):c.1342A>G (p.Met448Val) rs767060690
NM_000282.4(PCCA):c.1430G>T (p.Gly477Val) rs776355907
NM_000282.4(PCCA):c.1593_1595del (p.Leu532del) rs937519016
NM_000282.4(PCCA):c.15G>A (p.Trp5Ter) rs11539554
NM_000282.4(PCCA):c.1643+1_1643+2dup rs1555425626
NM_000282.4(PCCA):c.1676G>T (p.Trp559Leu) rs118169528
NM_000282.4(PCCA):c.1746G>A (p.Ser582=) rs192171304
NM_000282.4(PCCA):c.183+4_183+7del rs1555342581
NM_000282.4(PCCA):c.1919C>G (p.Thr640Ser)
NM_000282.4(PCCA):c.1997T>A (p.Met666Lys) rs999241357
NM_000282.4(PCCA):c.202G>A (p.Val68Ile)
NM_000282.4(PCCA):c.2037C>T (p.Asp679=) rs146870931
NM_000282.4(PCCA):c.2039C>T (p.Ala680Val) rs376383373
NM_000282.4(PCCA):c.2040+11dup rs779884567
NM_000282.4(PCCA):c.2040G>A (p.Ala680=) rs369982920
NM_000282.4(PCCA):c.2133_2135del (p.Cys712del) rs1316778844
NM_000282.4(PCCA):c.2162_2163insAG (p.Asp722fs) rs749875940
NM_000282.4(PCCA):c.2172C>T (p.Leu724=) rs150352833
NM_000282.4(PCCA):c.223G>C (p.Ala75Pro) rs794727479
NM_000282.4(PCCA):c.230G>A (p.Arg77Gln) rs1387778734
NM_000282.4(PCCA):c.2T>C (p.Met1Thr) rs372093520
NM_000282.4(PCCA):c.328G>C (p.Val110Leu) rs150788587
NM_000282.4(PCCA):c.432A>G (p.Gly144=) rs768756825
NM_000282.4(PCCA):c.522G>A (p.Met174Ile) rs780406346
NM_000282.4(PCCA):c.590G>C (p.Gly197Ala)
NM_000282.4(PCCA):c.608_610AAG[1] (p.Glu204del) rs750672608
NM_000282.4(PCCA):c.615dup (p.Val206fs) rs1566767338
NM_000282.4(PCCA):c.659C>A (p.Ala220Asp) rs1555396108
NM_000282.4(PCCA):c.688C>T (p.Arg230Cys)
NM_000282.4(PCCA):c.778A>C (p.Ile260Leu) rs769286299
NM_000282.4(PCCA):c.782A>G (p.Glu261Gly) rs1169861687
NM_000282.4(PCCA):c.802C>T (p.Arg268Cys) rs774738181
NM_000282.4(PCCA):c.803G>A (p.Arg268His)
NM_000282.4(PCCA):c.819+9A>G
NM_000282.4(PCCA):c.832A>G (p.Lys278Glu)
NM_000282.4(PCCA):c.878A>G (p.Gln293Arg) rs879253805
NM_000282.4(PCCA):c.893A>G (p.Lys298Arg) rs1444049793
NM_000282.4(PCCA):c.915C>G (p.Ser305Arg)
NM_000282.4(PCCA):c.929C>T (p.Ala310Val)
NM_000411.8(HLCS):c.*1084C>T rs530869762
NM_000411.8(HLCS):c.*1089G>A rs146991267
NM_000411.8(HLCS):c.*1097G>A rs886057070
NM_000411.8(HLCS):c.*1273T>A rs565500474
NM_000411.8(HLCS):c.*1324T>C rs141644229
NM_000411.8(HLCS):c.*1581T>C rs886057069
NM_000411.8(HLCS):c.*1594A>G rs776064678
NM_000411.8(HLCS):c.*1614dup rs886057068
NM_000411.8(HLCS):c.*1725A>G rs73398120
NM_000411.8(HLCS):c.*1744G>A rs117270429
NM_000411.8(HLCS):c.*1756C>T rs748180401
NM_000411.8(HLCS):c.*1761_*1762del rs886057067
NM_000411.8(HLCS):c.*1827C>A rs768653798
NM_000411.8(HLCS):c.*1852G>T rs551457805
NM_000411.8(HLCS):c.*1856T>C rs151042283
NM_000411.8(HLCS):c.*1997G>A rs886057066
NM_000411.8(HLCS):c.*2023G>A rs886057065
NM_000411.8(HLCS):c.*2163A>G rs139776215
NM_000411.8(HLCS):c.*2243C>T rs554230015
NM_000411.8(HLCS):c.*2267G>T rs886057064
NM_000411.8(HLCS):c.*2285G>A rs886057063
NM_000411.8(HLCS):c.*2434G>T rs886057062
NM_000411.8(HLCS):c.*2541C>T rs184935954
NM_000411.8(HLCS):c.*2545C>A rs180866987
NM_000411.8(HLCS):c.*2624G>A rs73210780
NM_000411.8(HLCS):c.*270dup rs886057074
NM_000411.8(HLCS):c.*2814C>T rs146199781
NM_000411.8(HLCS):c.*2945C>T rs71332549
NM_000411.8(HLCS):c.*2952_*2953CT[1] rs886057061
NM_000411.8(HLCS):c.*3159_*3162del rs535525635
NM_000411.8(HLCS):c.*3161G>T rs886057060
NM_000411.8(HLCS):c.*3209C>T rs886057059
NM_000411.8(HLCS):c.*3226del rs35955622
NM_000411.8(HLCS):c.*3226dup rs35955622
NM_000411.8(HLCS):c.*3247A>G rs114061673
NM_000411.8(HLCS):c.*334A>G rs886057073
NM_000411.8(HLCS):c.*490C>T rs376741921
NM_000411.8(HLCS):c.*590A>G rs148195019
NM_000411.8(HLCS):c.*779A>T rs886057072
NM_000411.8(HLCS):c.*985C>A rs886057071
NM_000411.8(HLCS):c.-173C>T rs541806392
NM_000411.8(HLCS):c.-208G>A rs77067023
NM_000411.8(HLCS):c.-254C>T rs149104163
NM_000411.8(HLCS):c.-257-10T>A rs181989786
NM_000411.8(HLCS):c.-294A>C rs751729789
NM_000411.8(HLCS):c.-373A>T rs191115811
NM_000411.8(HLCS):c.-382A>G rs886057080
NM_000411.8(HLCS):c.-393+7C>T rs886057081
NM_000411.8(HLCS):c.1109C>T (p.Thr370Ile) rs575286749
NM_000411.8(HLCS):c.1180-12T>C rs367728041
NM_000411.8(HLCS):c.1254C>T (p.Leu418=) rs138209330
NM_000411.8(HLCS):c.1367A>G (p.Tyr456Cys) rs781603756
NM_000411.8(HLCS):c.1409T>C (p.Leu470Ser) rs1261821166
NM_000411.8(HLCS):c.1416C>A (p.Ala472=) rs759178651
NM_000411.8(HLCS):c.1477A>G (p.Met493Val)
NM_000411.8(HLCS):c.1502G>A (p.Arg501Gln) rs886057076
NM_000411.8(HLCS):c.1513G>C (p.Gly505Arg) rs1555885056
NM_000411.8(HLCS):c.1533dup (p.Val512fs) rs767533946
NM_000411.8(HLCS):c.1536G>A (p.Val512=) rs886057075
NM_000411.8(HLCS):c.1680+1G>A rs1175936807
NM_000411.8(HLCS):c.1694G>A (p.Arg565Gln) rs769446135
NM_000411.8(HLCS):c.1711G>A (p.Asp571Asn) rs119103228
NM_000411.8(HLCS):c.1810G>A (p.Val604Met) rs1555882115
NM_000411.8(HLCS):c.1826C>G (p.Pro609Arg)
NM_000411.8(HLCS):c.1827_1829del (p.Thr610del) rs1555882090
NM_000411.8(HLCS):c.1900G>A (p.Asp634Asn) rs149399432
NM_000411.8(HLCS):c.1911C>T (p.Ile637=) rs150263699
NM_000411.8(HLCS):c.1975G>A (p.Val659Ile) rs368124997
NM_000411.8(HLCS):c.1977C>T (p.Val659=) rs759416272
NM_000411.8(HLCS):c.1991A>G (p.Tyr664Cys) rs776535574
NM_000411.8(HLCS):c.1A>C (p.Met1Leu) rs764841449
NM_000411.8(HLCS):c.1A>G (p.Met1Val) rs764841449
NM_000411.8(HLCS):c.2010-1G>A rs1158898827
NM_000411.8(HLCS):c.2059G>A (p.Val687Ile) rs145648338
NM_000411.8(HLCS):c.2060_2062dup (p.Val687dup) rs773191073
NM_000411.8(HLCS):c.2078G>C (p.Gly693Ala) rs764148793
NM_000411.8(HLCS):c.2126del (p.Pro709fs) rs1555880930
NM_000411.8(HLCS):c.2146_2147del (p.Met716fs) rs1555880894
NM_000411.8(HLCS):c.2170_2173del (p.Lys724fs) rs774356408
NM_000411.8(HLCS):c.2174G>A (p.Arg725Gln) rs147474255
NM_000411.8(HLCS):c.282C>A (p.Gly94=) rs886057077
NM_000411.8(HLCS):c.399C>T (p.Tyr133=) rs779907293
NM_000411.8(HLCS):c.400G>A (p.Asp134Asn) rs148426470
NM_000411.8(HLCS):c.424G>A (p.Val142Ile) rs149291867
NM_000411.8(HLCS):c.477A>G (p.Gly159=) rs767988985
NM_000411.8(HLCS):c.48T>G (p.Ile16Met) rs886057079
NM_000411.8(HLCS):c.500A>C (p.Tyr167Ser) rs778638155
NM_000411.8(HLCS):c.52+9C>A rs886057078
NM_000411.8(HLCS):c.53-25TC[4] rs146532042
NM_000411.8(HLCS):c.53-9A>G rs376397597
NM_000411.8(HLCS):c.59A>G (p.His20Arg) rs577182758
NM_000411.8(HLCS):c.632C>T (p.Thr211Met) rs142524025
NM_000411.8(HLCS):c.652G>T (p.Val218Phe) rs1569216588
NM_000411.8(HLCS):c.710T>G (p.Leu237Arg)
NM_000411.8(HLCS):c.850G>A (p.Val284Ile) rs376903098
NM_000411.8(HLCS):c.887T>G (p.Val296Gly)
NM_000411.8(HLCS):c.890G>A (p.Arg297Gln) rs146030669
NM_000532.5(PCCB):c.*128_*132del rs886058021
NM_000532.5(PCCB):c.*44C>T rs201452852
NM_000532.5(PCCB):c.*91C>A rs115533065
NM_000532.5(PCCB):c.-35G>A rs886058016
NM_000532.5(PCCB):c.1127G>A (p.Arg376His) rs142982097
NM_000532.5(PCCB):c.1127G>T (p.Arg376Leu) rs142982097
NM_000532.5(PCCB):c.1142G>A (p.Cys381Tyr) rs1024773388
NM_000532.5(PCCB):c.1154A>G (p.Asn385Ser) rs151078515
NM_000532.5(PCCB):c.116T>C (p.Ile39Thr) rs182412270
NM_000532.5(PCCB):c.1199-8A>G rs886058019
NM_000532.5(PCCB):c.11_28dup (p.Ala4_Ala9dup) rs777359703
NM_000532.5(PCCB):c.1221del (p.Ile408fs) rs1560033769
NM_000532.5(PCCB):c.1226del (p.Ile409fs) rs1560033794
NM_000532.5(PCCB):c.1229G>A (p.Arg410Gln) rs778742647
NM_000532.5(PCCB):c.12_26del (p.Leu5_Ala9del) rs1553773148
NM_000532.5(PCCB):c.1372G>A (p.Ala458Thr) rs542389615
NM_000532.5(PCCB):c.1402G>A (p.Ala468Thr) rs775563122
NM_000532.5(PCCB):c.1421A>G (p.Lys474Arg) rs145628302
NM_000532.5(PCCB):c.1452A>G (p.Ala484=) rs781556055
NM_000532.5(PCCB):c.1503del (p.Phe501fs) rs1553785139
NM_000532.5(PCCB):c.1520A>G (p.Gln507Arg) rs886058020
NM_000532.5(PCCB):c.1524_1526TTC[1] (p.Ser510del) rs1553785152
NM_000532.5(PCCB):c.1555_1557dup (p.Leu519dup) rs1553785169
NM_000532.5(PCCB):c.1570A>G (p.Ser524Gly) rs1560035695
NM_000532.5(PCCB):c.183+5G>A rs879253813
NM_000532.5(PCCB):c.184-12G>T rs181283691
NM_000532.5(PCCB):c.185G>C (p.Gly62Ala) rs886058017
NM_000532.5(PCCB):c.263A>G (p.His88Arg) rs771333669
NM_000532.5(PCCB):c.292_294del (p.Asp98del) rs1307067547
NM_000532.5(PCCB):c.298_303del (p.Asn100_Lys101del) rs763485353
NM_000532.5(PCCB):c.319G>A (p.Val107Met) rs1553774114
NM_000532.5(PCCB):c.338G>A (p.Arg113Gln) rs138246328
NM_000532.5(PCCB):c.373-1243G>A rs1184391176
NM_000532.5(PCCB):c.373-1246G>A rs996480567
NM_000532.5(PCCB):c.429+7G>A rs201986472
NM_000532.5(PCCB):c.45C>T (p.Ser15=) rs754664563
NM_000532.5(PCCB):c.467T>C (p.Ile156Thr) rs1559998737
NM_000532.5(PCCB):c.46G>T (p.Val16Phe)
NM_000532.5(PCCB):c.484G>T (p.Gly162Trp) rs754752068
NM_000532.5(PCCB):c.543G>C (p.Leu181=)
NM_000532.5(PCCB):c.553del (p.Thr185fs) rs886058018
NM_000532.5(PCCB):c.554C>T (p.Thr185Met) rs369612150
NM_000532.5(PCCB):c.555G>C (p.Thr185=) rs543691110
NM_000532.5(PCCB):c.563G>C (p.Gly188Ala) rs796052024
NM_000532.5(PCCB):c.595C>T (p.Pro199Ser) rs371155999
NM_000532.5(PCCB):c.596C>G (p.Pro199Arg) rs1313783374
NM_000532.5(PCCB):c.603T>C (p.Ala201=) rs141340198
NM_000532.5(PCCB):c.611C>T (p.Ala204Val) rs760499581
NM_000532.5(PCCB):c.617A>G (p.Tyr206Cys) rs779033674
NM_000532.5(PCCB):c.620C>T (p.Ser207Phe) rs1553777582
NM_000532.5(PCCB):c.707A>G (p.Asn236Ser) rs778955184
NM_000532.5(PCCB):c.734_736GTG[1] (p.Gly246del) rs1553778892
NM_000532.5(PCCB):c.763+3GA[4] rs1553778916
NM_000532.5(PCCB):c.763G>A (p.Gly255Ser) rs1553778909
NM_000532.5(PCCB):c.791A>G (p.Asp264Gly) rs1560017781
NM_000532.5(PCCB):c.815G>A (p.Arg272Gln) rs150555106
NM_000532.5(PCCB):c.82C>G (p.Leu28Val) rs141137691
NM_000532.5(PCCB):c.836C>T (p.Pro279Leu) rs780837200
NM_000532.5(PCCB):c.865C>T (p.Arg289Cys) rs771935604
NM_000532.5(PCCB):c.882C>T (p.Pro294=) rs142730126
NM_000532.5(PCCB):c.889C>T (p.Arg297Cys) rs549397464
NM_000532.5(PCCB):c.890G>A (p.Arg297His) rs147379583
NM_000532.5(PCCB):c.911C>T (p.Thr304Ile)
NM_000532.5(PCCB):c.988T>G (p.Phe330Val)
NM_001017989.3(OPA3):c.-7C>G rs199590627
NM_001017989.3(OPA3):c.142+2_142+3dup rs1555736791
NM_001017989.3(OPA3):c.142+5G>C rs1250409781
NM_001017989.3(OPA3):c.143-16812G>A rs192699227
NM_001017989.3(OPA3):c.143-16962_143-16958del rs565521231
NM_001017989.3(OPA3):c.143-17156G>A rs528812143
NM_001017989.3(OPA3):c.143-17285G>T rs886054504
NM_001017989.3(OPA3):c.143-17370G>A rs181576269
NM_001017989.3(OPA3):c.143-17384T>C rs534603782
NM_001017989.3(OPA3):c.143-17488G>C rs773109015
NM_001017989.3(OPA3):c.143-17597C>T rs886054505
NM_001017989.3(OPA3):c.143-17622_143-17621insG rs886054506
NM_001017989.3(OPA3):c.143-17769A>G rs182293743
NM_001017989.3(OPA3):c.143-17780G>A rs886054507
NM_001017989.3(OPA3):c.143-17933G>A rs780617440
NM_001017989.3(OPA3):c.143-17986A>G rs576104602
NM_001017989.3(OPA3):c.143-18170C>T rs886054508
NM_001017989.3(OPA3):c.143-18185C>T rs886054509
NM_001017989.3(OPA3):c.143-18284G>C rs886054510
NM_001017989.3(OPA3):c.143-18284G>T rs886054510
NM_001017989.3(OPA3):c.143-18319C>T rs375835737
NM_001017989.3(OPA3):c.143-18461C>T rs560019290
NM_001017989.3(OPA3):c.143-18562C>T rs886054511
NM_001017989.3(OPA3):c.143-18701G>A rs549141863
NM_001017989.3(OPA3):c.143-18800A>G rs886054512
NM_001017989.3(OPA3):c.143-19089C>G rs886054513
NM_001017989.3(OPA3):c.143-19104C>T rs146646433
NM_001017989.3(OPA3):c.143-19139_143-19137del rs886054514
NM_001017989.3(OPA3):c.143-19196_143-19193del rs886054515
NM_001017989.3(OPA3):c.143-19205T>A rs886054516
NM_001017989.3(OPA3):c.143-19346del rs886054518
NM_001017989.3(OPA3):c.143-19362ATAA[6] rs58537694
NM_001017989.3(OPA3):c.143-19362ATAA[8] rs58537694
NM_001017989.3(OPA3):c.143-19362ATAA[9] rs58537694
NM_001017989.3(OPA3):c.143-19472G>A rs886054519
NM_001017989.3(OPA3):c.143-19473C>T rs886054520
NM_001017989.3(OPA3):c.143-19537G>A rs886054521
NM_001017989.3(OPA3):c.143-19594G>T rs886054522
NM_001017989.3(OPA3):c.143-19619C>T rs538388889
NM_001017989.3(OPA3):c.143-19639C>T rs886054523
NM_001017989.3(OPA3):c.143-20032del rs879119658
NM_001017989.3(OPA3):c.143-20043dup rs879119658
NM_001017989.3(OPA3):c.143-20167C>T rs752997579
NM_001017989.3(OPA3):c.143-20174G>A rs187028696
NM_001017989.3(OPA3):c.143-20213C>T rs886054525
NM_001017989.3(OPA3):c.143-20303G>A rs555830952
NM_001017989.3(OPA3):c.143-20477C>T rs576070088
NM_001017989.3(OPA3):c.143-20562C>G rs749084024
NM_001017989.3(OPA3):c.143-20698G>A rs545764728
NM_001017989.3(OPA3):c.143-20780C>T rs770317628
NM_001017989.3(OPA3):c.143-21162G>A rs190488484
NM_001017989.3(OPA3):c.143-21344C>T rs781539538
NM_001017989.3(OPA3):c.143-21356G>T rs886054526
NM_001017989.3(OPA3):c.143-21468G>T rs886054527
NM_001017989.3(OPA3):c.143-21513G>A rs886054528
NM_001017989.3(OPA3):c.143-21568C>T rs11671670
NM_001017989.3(OPA3):c.143-21969T>C rs886054529
NM_001017989.3(OPA3):c.143-22195T>G rs769185702
NM_001017989.3(OPA3):c.143-22259A>G rs886054530
NM_001017989.3(OPA3):c.143-22580A>G rs886054531
NM_001017989.3(OPA3):c.143-22804A>C rs886054532
NM_001017989.3(OPA3):c.143-22820G>A rs187216413
NM_001017989.3(OPA3):c.143-22845C>T rs539298843
NM_001017989.3(OPA3):c.143-22967C>G rs557691359
NM_001017989.3(OPA3):c.143-22982A>G rs886054533
NM_001017989.3(OPA3):c.143-23087dup rs377547137
NM_001017989.3(OPA3):c.143-23136G>T rs886054535
NM_001017989.3(OPA3):c.143-23237A>T rs886054536
NM_001017989.3(OPA3):c.143-23345C>G rs143735864
NM_001017989.3(OPA3):c.143-23381C>T rs560749495
NM_001017989.3(OPA3):c.143-23409C>T rs886054537
NM_001017989.3(OPA3):c.143-23513G>T rs886054538
NM_001017989.3(OPA3):c.143-23638A>G rs868102539
NM_001017989.3(OPA3):c.143-23732_143-23731del rs571672143
NM_001017989.3(OPA3):c.143-23736A>G rs886054539
NM_001017989.3(OPA3):c.143-23756C>T rs886054540
NM_001017989.3(OPA3):c.143-24008_143-24006del rs886054541
NM_001017989.3(OPA3):c.143-24111C>T rs780492515
NM_001017989.3(OPA3):c.143-24128_143-24120del rs745544229
NM_001017989.3(OPA3):c.143-24154C>T rs759536853
NM_001017989.3(OPA3):c.143-24167del rs1205708262
NM_001017989.3(OPA3):c.143-24179_143-24174dup rs1363616568
NM_001017989.3(OPA3):c.143-24264del rs1555732911
NM_001017989.3(OPA3):c.143-24267_143-24265del rs1353357190
NM_001017989.3(OPA3):c.143-24293_143-24276dup
NM_001017989.3(OPA3):c.143-24350_143-24347dup rs1555732942
NM_001017989.3(OPA3):c.217G>T (p.Glu73Ter) rs759861826
NM_001017989.3(OPA3):c.221del (p.Gly74fs) rs779350552
NM_001017989.3(OPA3):c.232G>T (p.Glu78Ter) rs763348163
NM_001017989.3(OPA3):c.256G>T (p.Glu86Ter) rs780614894
NM_001017989.3(OPA3):c.268_270del (p.Phe90del) rs755084544
NM_001017989.3(OPA3):c.2_4TGG[2] (p.Val3del) rs1555736840
NM_001017989.3(OPA3):c.313C>T (p.Gln105Ter) rs1225701554
NM_001017989.3(OPA3):c.343C>T (p.Arg115Ter) rs762247018
NM_001017989.3(OPA3):c.380del (p.Gly127fs) rs1555730165
NM_001017989.3(OPA3):c.415C>T (p.Gln139Ter) rs762180740
NM_001017989.3(OPA3):c.421C>T (p.Gln141Ter) rs374175877
NM_001017989.3(OPA3):c.436C>T (p.Gln146Ter) rs1555730159
NM_001017989.3(OPA3):c.444_448del (p.Leu149fs) rs1555730158
NM_001017989.3(OPA3):c.445del (p.Leu149fs) rs780299639
NM_001017989.3(OPA3):c.448G>T (p.Glu150Ter) rs1555730157
NM_001017989.3(OPA3):c.464_467dup (p.Gln157fs)
NM_001017989.3(OPA3):c.535delinsAA (p.Glu179fs) rs1555730141
NM_001017989.3(OPA3):c.541T>C (p.Ter181Gln) rs1555730136
NM_001017989.3(OPA3):c.542A>G (p.Ter181Trp) rs375580763
NM_001017989.3(OPA3):c.542_543del (p.Lys180_Ter181insTer) rs1555730133
NM_001081.3(CUBN):c.10351G>A (p.Asp3451Asn) rs145661638
NM_001081.3(CUBN):c.10471A>G (p.Ser3491Gly) rs1183879233
NM_001081.3(CUBN):c.10612G>A (p.Glu3538Lys)
NM_001081.3(CUBN):c.10764+1G>A rs374982220
NM_001081.3(CUBN):c.1558C>T (p.Arg520Trp) rs564637804
NM_001081.3(CUBN):c.1951C>G (p.Arg651Gly) rs182512508
NM_001081.3(CUBN):c.1999A>G (p.Thr667Ala)
NM_001081.3(CUBN):c.2306G>A (p.Arg769Gln)
NM_001081.3(CUBN):c.2810C>G (p.Thr937Arg)
NM_001081.3(CUBN):c.2822G>A (p.Gly941Glu)
NM_001081.3(CUBN):c.2929T>C (p.Phe977Leu)
NM_001081.3(CUBN):c.322A>G (p.Ser108Gly) rs1564526263
NM_001081.3(CUBN):c.3391A>G (p.Thr1131Ala)
NM_001081.3(CUBN):c.348+2T>C
NM_001081.3(CUBN):c.349C>A (p.Leu117Met)
NM_001081.3(CUBN):c.3646C>G (p.Pro1216Ala)
NM_001081.3(CUBN):c.3823C>T (p.Arg1275Trp)
NM_001081.3(CUBN):c.3896C>G (p.Pro1299Arg) rs752570169
NM_001081.3(CUBN):c.3932G>A (p.Arg1311Gln)
NM_001081.3(CUBN):c.4167C>T (p.Tyr1389=) rs150510291
NM_001081.3(CUBN):c.4837C>T (p.Arg1613Ter) rs769881615
NM_001081.3(CUBN):c.4964C>G (p.Pro1655Arg) rs532968940
NM_001081.3(CUBN):c.5189C>T (p.Thr1730Met) rs201958183
NM_001081.3(CUBN):c.5285T>G (p.Val1762Gly) rs149164899
NM_001081.3(CUBN):c.5302_5304del (p.Ile1768del) rs775161946
NM_001081.3(CUBN):c.536G>T (p.Gly179Val)
NM_001081.3(CUBN):c.5459A>G (p.Tyr1820Cys)
NM_001081.3(CUBN):c.5470G>A (p.Val1824Ile)
NM_001081.3(CUBN):c.5580T>A (p.His1860Gln) rs980358703
NM_001081.3(CUBN):c.5806_5807delinsAA (p.Ser1936Asn) rs1554796668
NM_001081.3(CUBN):c.5840C>A (p.Ser1947Tyr) rs147617753
NM_001081.3(CUBN):c.5909_5912TACC[1] (p.Thr1972fs) rs765301342
NM_001081.3(CUBN):c.6020C>T (p.Thr2007Met)
NM_001081.3(CUBN):c.6125-2A>G rs75386064
NM_001081.3(CUBN):c.6225G>A (p.Ser2075=) rs75737363
NM_001081.3(CUBN):c.6359G>A (p.Trp2120Ter) rs566060177
NM_001081.3(CUBN):c.6479A>G (p.Asp2160Gly) rs144704318
NM_001081.3(CUBN):c.6661G>A (p.Val2221Ile) rs143291127
NM_001081.3(CUBN):c.6728C>T (p.Pro2243Leu)
NM_001081.3(CUBN):c.6833A>G (p.Asn2278Ser)
NM_001081.3(CUBN):c.6847C>T (p.Arg2283Trp)
NM_001081.3(CUBN):c.7007G>A (p.Cys2336Tyr)
NM_001081.3(CUBN):c.704G>C (p.Arg235Pro)
NM_001081.3(CUBN):c.7316C>G (p.Ser2439Ter) rs1564421451
NM_001081.3(CUBN):c.7331G>A (p.Arg2444Gln)
NM_001081.3(CUBN):c.7390A>C (p.Thr2464Pro)
NM_001081.3(CUBN):c.7403A>G (p.Tyr2468Cys)
NM_001081.3(CUBN):c.7797C>G (p.Cys2599Trp) rs138758085
NM_001081.3(CUBN):c.7861dup (p.Tyr2621fs) rs1564415858
NM_001081.3(CUBN):c.8071G>A (p.Gly2691Arg)
NM_001081.3(CUBN):c.8278A>G (p.Ile2760Val)
NM_001081.3(CUBN):c.8399C>T (p.Thr2800Ile) rs141737312
NM_001081.3(CUBN):c.8578T>G (p.Cys2860Gly)
NM_001081.3(CUBN):c.8680C>G (p.Pro2894Ala)
NM_001081.3(CUBN):c.8711C>T (p.Ser2904Phe)
NM_001081.3(CUBN):c.8943C>T (p.Gly2981=) rs767131065
NM_001081.3(CUBN):c.9053A>C (p.Tyr3018Ser) rs370778353
NM_001081.3(CUBN):c.9061G>A (p.Glu3021Lys) rs41289299
NM_001081.3(CUBN):c.9079G>A (p.Gly3027Arg) rs150202444
NM_001081.3(CUBN):c.9166G>A (p.Ala3056Thr)
NM_001081.3(CUBN):c.9524C>A (p.Ser3175Ter) rs368697251
NM_001081.3(CUBN):c.9555T>G (p.Cys3185Trp)
NM_001081.3(CUBN):c.9922T>C (p.Trp3308Arg) rs752843169
NM_001127692.2(PCCA):c.-60C>T rs778039561
NM_001166059.1(HMGCL):c.-41G>C rs886046315
NM_001178014.1(PCCB):c.-46A>T rs751837162
NM_001258392.3(CLPB):c.1003G>A (p.Glu335Lys) rs765777645
NM_001258392.3(CLPB):c.1292C>T (p.Pro431Leu)
NM_001258392.3(CLPB):c.1375G>A (p.Ala459Thr)
NM_001258392.3(CLPB):c.1408G>A (p.Asp470Asn)
NM_001258392.3(CLPB):c.1462C>T (p.Arg488Cys)
NM_001258392.3(CLPB):c.1482C>G (p.Asn494Lys)
NM_001258392.3(CLPB):c.1546C>T (p.Arg516Cys)
NM_001258392.3(CLPB):c.1570C>T (p.Arg524Trp)
NM_001258392.3(CLPB):c.1579G>A (p.Glu527Lys)
NM_001258392.3(CLPB):c.1592G>A (p.Arg531Gln)
NM_001258392.3(CLPB):c.1786-3C>T
NM_001258392.3(CLPB):c.1792C>T (p.Arg598Cys) rs150343959
NM_001258392.3(CLPB):c.1859G>A (p.Arg620His)
NM_001258392.3(CLPB):c.1859G>T (p.Arg620Leu) rs137882645
NM_001258392.3(CLPB):c.1958T>C (p.Ile653Thr)
NM_001258392.3(CLPB):c.214G>A (p.Gly72Arg)
NM_001258392.3(CLPB):c.247C>T (p.Leu83Phe)
NM_001258392.3(CLPB):c.260C>T (p.Thr87Ile) rs1424542665
NM_001258392.3(CLPB):c.347G>C (p.Cys116Ser)
NM_001258392.3(CLPB):c.359C>G (p.Ala120Gly) rs1565107812
NM_001258392.3(CLPB):c.370G>T (p.Val124Phe)
NM_001258392.3(CLPB):c.441G>C (p.Met147Ile)
NM_001258392.3(CLPB):c.646+6T>C
NM_001258392.3(CLPB):c.646+7291G>A
NM_001258392.3(CLPB):c.646+7335T>C
NM_001258392.3(CLPB):c.680G>T (p.Arg227Met) rs1284671735
NM_001258392.3(CLPB):c.713C>T (p.Thr238Met) rs200032855
NM_001258392.3(CLPB):c.748C>G (p.Arg250Gly)
NM_001258392.3(CLPB):c.764T>C (p.Leu255Pro) rs1555098495
NM_001258392.3(CLPB):c.819G>C (p.Leu273Phe)
NM_001258392.3(CLPB):c.844A>G (p.Met282Val)
NM_001258392.3(CLPB):c.889C>T (p.Arg297Trp) rs148534573
NM_001258392.3(CLPB):c.908A>G (p.Glu303Gly)
NM_001258392.3(CLPB):c.949A>G (p.Ile317Val)
NM_001258392.3(CLPB):c.983G>A (p.Gly328Asp) rs1565433670
NM_001258392.3(CLPB):c.989C>T (p.Ala330Val)
NM_001293273.1(MCCC1):c.-193C>T rs886058210
NM_001293273.1(MCCC1):c.-194C>A rs543130921
NM_001293273.1(MCCC1):c.-224C>T rs529095789
NM_001330174.2(ACADSB):c.922+21del rs11307362
NM_001370658.1(BTD):c.*159G>A rs530872564
NM_001370658.1(BTD):c.*211G>A rs78601074
NM_001370658.1(BTD):c.*57T>A rs886058118
NM_001370658.1(BTD):c.-105C>T rs184480128
NM_001370658.1(BTD):c.-148C>T rs774964227
NM_001370658.1(BTD):c.-58G>A rs1553646827
NM_001370658.1(BTD):c.-59T>A rs768258310
NM_001370658.1(BTD):c.-59T>C rs768258310
NM_001370658.1(BTD):c.-60A>G rs1553646820
NM_001370658.1(BTD):c.-65G>T rs199516128
NM_001370658.1(BTD):c.-74G>A rs200884349
NM_001370658.1(BTD):c.-87G>T rs755119589
NM_001370658.1(BTD):c.1041C>T (p.Gly347=) rs142421934
NM_001370658.1(BTD):c.1043A>C (p.Asp348Ala) rs886058115
NM_001370658.1(BTD):c.1046C>T (p.Pro349Leu) rs397514400
NM_001370658.1(BTD):c.1112C>T (p.Pro371Leu) rs375239909
NM_001370658.1(BTD):c.1114C>T (p.Pro372Ser) rs886058116
NM_001370658.1(BTD):c.1145A>G (p.Asn382Ser) rs201023772
NM_001370658.1(BTD):c.1151C>T (p.Thr384Ile) rs397514405
NM_001370658.1(BTD):c.1177G>A (p.Gly393Ser) rs374141881
NM_001370658.1(BTD):c.1192T>C (p.Cys398Arg) rs397514408
NM_001370658.1(BTD):c.1207T>C (p.Cys403Arg) rs397514412
NM_001370658.1(BTD):c.1225G>A (p.Glu409Lys) rs770633850
NM_001370658.1(BTD):c.1246G>A (p.Glu416Lys) rs749460715
NM_001370658.1(BTD):c.1249C>G (p.Leu417Val) rs1553654107
NM_001370658.1(BTD):c.1270G>C (p.Asp424His) rs13078881
NM_001370658.1(BTD):c.1274G>A (p.Gly425Glu) rs397514402
NM_001370658.1(BTD):c.1301A>G (p.Tyr434Cys) rs397514345
NM_001370658.1(BTD):c.1309G>T (p.Val437Leu) rs146600671
NM_001370658.1(BTD):c.1328G>A (p.Cys443Tyr) rs397514421
NM_001370658.1(BTD):c.1333G>T (p.Gly445Cys) rs746099217
NM_001370658.1(BTD):c.136C>A (p.Pro46Thr) rs778785164
NM_001370658.1(BTD):c.1372G>A (p.Ala458Thr) rs181396238
NM_001370658.1(BTD):c.1379G>A (p.Gly460Glu) rs558477960
NM_001370658.1(BTD):c.1395C>G (p.His465Gln) rs201604102
NM_001370658.1(BTD):c.1406A>C (p.Asn469Thr) rs104893692
NM_001370658.1(BTD):c.140C>G (p.Ser47Cys) rs747489101
NM_001370658.1(BTD):c.1421A>G (p.Tyr474Cys) rs750598655
NM_001370658.1(BTD):c.1425C>A (p.Ile475=) rs780182371
NM_001370658.1(BTD):c.1427T>C (p.Phe476Ser) rs886058117
NM_001370658.1(BTD):c.1471C>G (p.Gln491Glu) rs397514427
NM_001370658.1(BTD):c.1503del (p.Arg502fs) rs1163419871
NM_001370658.1(BTD):c.1552C>A (p.Arg518Ser) rs80338686
NM_001370658.1(BTD):c.1559A>G (p.Tyr520Cys) rs397514431
NM_001370658.1(BTD):c.176G>A (p.Arg59His) rs397514343
NM_001370658.1(BTD):c.185C>T (p.Ala62Val) rs397507171
NM_001370658.1(BTD):c.188T>C (p.Leu63Ser) rs397514347
NM_001370658.1(BTD):c.239C>T (p.Ala80Val) rs1553652171
NM_001370658.1(BTD):c.261T>G (p.Ile87Met) rs1024847163
NM_001370658.1(BTD):c.296A>G (p.Asn99Ser) rs397514353
NM_001370658.1(BTD):c.304A>G (p.Arg102Gly) rs397514354
NM_001370658.1(BTD):c.382C>T (p.Arg128Cys) rs137877018
NM_001370658.1(BTD):c.383G>A (p.Arg128His) rs367902696
NM_001370658.1(BTD):c.409C>T (p.Arg137Cys) rs397514363
NM_001370658.1(BTD):c.40G>A (p.Gly14Ser) rs119103232
NM_001370658.1(BTD):c.41_44del (p.Gly14fs) rs1249246307
NM_001370658.1(BTD):c.425C>T (p.Ala142Val) rs397514364
NM_001370658.1(BTD):c.451G>A (p.Ala151Thr) rs13073139
NM_001370658.1(BTD):c.455A>G (p.Asn152Ser) rs397514366
NM_001370658.1(BTD):c.481A>G (p.Ser161Gly) rs541012569
NM_001370658.1(BTD):c.48C>T (p.Tyr16=) rs201823743
NM_001370658.1(BTD):c.506A>G (p.Asp169Gly)
NM_001370658.1(BTD):c.522C>G (p.Phe174Leu)
NM_001370658.1(BTD):c.523A>G (p.Asn175Asp) rs397514370
NM_001370658.1(BTD):c.545A>G (p.Asn182Ser) rs397514376
NM_001370658.1(BTD):c.557_559TTG[1] (p.Val187del) rs1553653699
NM_001370658.1(BTD):c.565C>T (p.Arg189Cys) rs369102875
NM_001370658.1(BTD):c.572G>A (p.Arg191His) rs112195009
NM_001370658.1(BTD):c.581A>G (p.Asn194Ser) rs397514377
NM_001370658.1(BTD):c.585C>T (p.Leu195=) rs145388314
NM_001370658.1(BTD):c.604G>A (p.Asp202Asn) rs200337373
NM_001370658.1(BTD):c.674G>A (p.Cys225Tyr) rs397507175
NM_001370658.1(BTD):c.683T>C (p.Ile228Thr) rs397514382
NM_001370658.1(BTD):c.68A>G (p.His23Arg) rs146011150
NM_001370658.1(BTD):c.697C>T (p.Pro233Ser) rs397514383
NM_001370658.1(BTD):c.704T>C (p.Ile235Thr) rs397514384
NM_001370658.1(BTD):c.721_723del (p.Tyr241del) rs1553653835
NM_001370658.1(BTD):c.755G>A (p.Trp252Ter)
NM_001370658.1(BTD):c.773T>C (p.Leu258Pro) rs397514389
NM_001370658.1(BTD):c.795G>C (p.Gln265His) rs1553653855
NM_001370658.1(BTD):c.806C>T (p.Ala269Val) rs1057520533
NM_001370658.1(BTD):c.817G>C (p.Gly273Arg) rs762757117
NM_001370658.1(BTD):c.847C>T (p.His283Tyr) rs144084212
NM_001370658.1(BTD):c.862A>C (p.Met288Leu) rs757604137
NM_001370658.1(BTD):c.874G>A (p.Gly292Ser) rs397514396
NM_001370658.1(BTD):c.875G>A (p.Gly292Asp) rs377651057
NM_001370658.1(BTD):c.881A>G (p.His294Arg) rs1553653888
NM_001370658.1(BTD):c.886C>A (p.Pro296Thr) rs1553653894
NM_001370658.1(BTD):c.908A>G (p.His303Arg) rs397507176
NM_001370658.1(BTD):c.986A>C (p.Asn329Thr) rs200327983
NM_001609.3(ACADSB):c.*109G>A rs34955007
NM_001609.3(ACADSB):c.*1195C>A rs886046787
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.*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.*2174A>G rs577027224
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.*2339G>A rs886046796
NM_001609.3(ACADSB):c.*2529G>A rs182831006
NM_001609.3(ACADSB):c.*2548G>T rs545467732
NM_001609.3(ACADSB):c.*2686G>C rs886046797
NM_001609.3(ACADSB):c.*277A>T rs149609453
NM_001609.3(ACADSB):c.*2803T>C rs187253795
NM_001609.3(ACADSB):c.*285T>C rs552366364
NM_001609.3(ACADSB):c.*2922G>A rs184574685
NM_001609.3(ACADSB):c.*2950A>G rs886046798
NM_001609.3(ACADSB):c.*30G>A rs141805585
NM_001609.3(ACADSB):c.*3130A>G rs41291348
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.*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.*4177G>A rs886046806
NM_001609.3(ACADSB):c.*473G>C rs189484621
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.-22A>G rs563472823
NM_001609.3(ACADSB):c.-39G>A rs886046776
NM_001609.3(ACADSB):c.-97T>C rs148327034
NM_001609.3(ACADSB):c.1062T>C (p.Ala354=) rs886046780
NM_001609.3(ACADSB):c.1128+2_1128+3insTA rs1554874107
NM_001609.3(ACADSB):c.1128+2_1128+4del rs1564754575
NM_001609.3(ACADSB):c.1128+3A>G rs760423996
NM_001609.3(ACADSB):c.1128+3A>T rs760423996
NM_001609.3(ACADSB):c.1145C>T (p.Thr382Met)
NM_001609.3(ACADSB):c.1154G>A (p.Cys385Tyr)
NM_001609.3(ACADSB):c.1156A>G (p.Ile386Val) rs770827167
NM_001609.3(ACADSB):c.1159G>A (p.Glu387Lys) rs188094280
NM_001609.3(ACADSB):c.1168G>A (p.Gly390Arg)
NM_001609.3(ACADSB):c.1170G>T (p.Gly390=) rs886046781
NM_001609.3(ACADSB):c.1186A>G (p.Lys396Glu) rs199963793
NM_001609.3(ACADSB):c.1187A>C (p.Lys396Thr) rs148640214
NM_001609.3(ACADSB):c.1213C>T (p.Arg405Ter) rs200154326
NM_001609.3(ACADSB):c.1228+8G>C rs202191462
NM_001609.3(ACADSB):c.1271T>C (p.Ile424Thr) rs748926593
NM_001609.3(ACADSB):c.176A>G (p.Asp59Gly) rs1375520384
NM_001609.3(ACADSB):c.260C>T (p.Ser87Leu)
NM_001609.3(ACADSB):c.334G>A (p.Gly112Arg) rs1564751382
NM_001609.3(ACADSB):c.370G>C (p.Val124Leu)
NM_001609.3(ACADSB):c.429C>T (p.Asn143=) rs886046777
NM_001609.3(ACADSB):c.42G>A (p.Leu14=) rs745863047
NM_001609.3(ACADSB):c.42G>T (p.Leu14=) rs745863047
NM_001609.3(ACADSB):c.544G>T (p.Gly182Cys) rs886046778
NM_001609.3(ACADSB):c.621G>A (p.Trp207Ter) rs374420253
NM_001609.3(ACADSB):c.655G>A (p.Val219Met)
NM_001609.3(ACADSB):c.67T>G (p.Leu23Val)
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.958A>T (p.Ile320Leu) rs1554873785
NM_001609.3(ACADSB):c.95T>A (p.Val32Asp) rs751722805
NM_001698.2(AUH):c.*218_*219del rs1057515675
NM_001698.2(AUH):c.*259_*262del rs377176126
NM_001698.2(AUH):c.*29G>A rs200499826
NM_001698.2(AUH):c.*432C>T rs746233646
NM_001698.2(AUH):c.-30C>G rs1057515677
NM_001698.2(AUH):c.182C>A (p.Pro61His) rs181327211
NM_001698.2(AUH):c.211A>C (p.Met71Leu) rs756127206
NM_001698.2(AUH):c.304T>A (p.Ser102Thr) rs1554721818
NM_001698.2(AUH):c.381A>G (p.Ile127Met) rs146227896
NM_001698.2(AUH):c.44T>A (p.Leu15Gln) rs757419657
NM_001698.2(AUH):c.598+10A>C rs186203318
NM_001698.2(AUH):c.678C>T (p.Arg226=) rs143768042
NM_001698.2(AUH):c.713T>C (p.Phe238Ser)
NM_001698.2(AUH):c.719C>T (p.Ala240Val) rs769894315
NM_001698.2(AUH):c.730G>A (p.Asp244Asn) rs202182817
NM_001698.2(AUH):c.791G>A (p.Gly264Glu) rs376821113
NM_001698.2(AUH):c.84G>T (p.Ala28=) rs1057515676
NM_001698.2(AUH):c.942+4dup rs1554688047
NM_001698.2(AUH):c.951A>T (p.Pro317=) rs530710210
NM_001698.2(AUH):c.991A>T (p.Lys331Ter) rs387906757
NM_002225.3(IVD):c.-237G>C rs749128466
NM_002225.3(IVD):c.-315C>G rs886051126
NM_002225.3(IVD):c.1019G>A (p.Arg340Gln) rs139908696
NM_002225.3(IVD):c.417G>C (p.Gln139His) rs569537063
NM_002225.5(IVD):c.*1005T>C rs560096869
NM_002225.5(IVD):c.*1117G>A rs886051132
NM_002225.5(IVD):c.*1213A>T rs886051133
NM_002225.5(IVD):c.*123G>A rs536728525
NM_002225.5(IVD):c.*1898G>A rs886051134
NM_002225.5(IVD):c.*2005G>A rs886051135
NM_002225.5(IVD):c.*204T>G rs886051127
NM_002225.5(IVD):c.*2070C>T rs187887699
NM_002225.5(IVD):c.*2302G>A rs886051136
NM_002225.5(IVD):c.*2494C>G rs781683880
NM_002225.5(IVD):c.*2559G>A rs532233403
NM_002225.5(IVD):c.*2630G>A rs28654574
NM_002225.5(IVD):c.*2850A>G rs147367220
NM_002225.5(IVD):c.*290dup rs529793013
NM_002225.5(IVD):c.*338G>A rs879231133
NM_002225.5(IVD):c.*566A>G rs549510775
NM_002225.5(IVD):c.*611T>G rs886051130
NM_002225.5(IVD):c.*809G>A rs886051131
NM_002225.5(IVD):c.-8T>G rs566691073
NM_002225.5(IVD):c.1001T>C (p.Met334Thr) rs368041528
NM_002225.5(IVD):c.1009C>T (p.Arg337Trp)
NM_002225.5(IVD):c.1112T>C (p.Val371Ala)
NM_002225.5(IVD):c.1120G>A (p.Asp374Asn) rs1566941619
NM_002225.5(IVD):c.1139-3C>G rs367891946
NM_002225.5(IVD):c.1160A>G (p.Asp387Gly) rs1163816425
NM_002225.5(IVD):c.1184G>A (p.Arg395Gln) rs1477527791
NM_002225.5(IVD):c.1205T>C (p.Ile402Thr) rs763422682
NM_002225.5(IVD):c.1232G>A (p.Arg411Gln) rs143348838
NM_002225.5(IVD):c.1243G>A (p.Gly415Ser) rs150855952
NM_002225.5(IVD):c.148C>G (p.Arg50Gly)
NM_002225.5(IVD):c.164A>T (p.Lys55Met) rs145999491
NM_002225.5(IVD):c.233G>C (p.Arg78Pro) rs771929559
NM_002225.5(IVD):c.268T>A (p.Leu90Met)
NM_002225.5(IVD):c.272G>A (p.Gly91Asp) rs1555403365
NM_002225.5(IVD):c.436A>G (p.Lys146Glu) rs1448656950
NM_002225.5(IVD):c.457-2A>G rs771914739
NM_002225.5(IVD):c.464G>A (p.Ser155Asn) rs140182461
NM_002225.5(IVD):c.516_518TGT[1] (p.Val174del) rs1566936030
NM_002225.5(IVD):c.596G>T (p.Gly199Val) rs121434285
NM_002225.5(IVD):c.618del (p.Ile206fs) rs781630355
NM_002225.5(IVD):c.707C>T (p.Thr236Ile) rs146861563
NM_002225.5(IVD):c.712_714AAG[1] (p.Lys239del) rs1555404430
NM_002225.5(IVD):c.784+13G>A rs369694967
NM_002225.5(IVD):c.796C>G (p.Leu266Val)
NM_002225.5(IVD):c.832A>C (p.Ser278Arg)
NM_002225.5(IVD):c.848A>G (p.Glu283Gly) rs1314850102
NM_002225.5(IVD):c.851G>A (p.Arg284Gln) rs373534546
NM_002225.5(IVD):c.875T>C (p.Leu292Pro) rs1555404843
NM_002225.5(IVD):c.879-5G>A rs750569823
NM_002225.5(IVD):c.881T>C (p.Leu294Pro) rs1555404933
NM_002225.5(IVD):c.887A>T (p.Gln296Leu)
NM_002225.5(IVD):c.891G>A (p.Ala297=) rs138427412
NM_002225.5(IVD):c.916C>G (p.Leu306Val) rs144418134
NM_005050.4(ABCD4):c.1346C>T (p.Thr449Met)
NM_005050.4(ABCD4):c.1352T>C (p.Phe451Ser)
NM_005050.4(ABCD4):c.1411C>T (p.Arg471Trp) rs45568335
NM_005050.4(ABCD4):c.1465G>A (p.Asp489Asn) rs139901585
NM_005050.4(ABCD4):c.1578G>A (p.Pro526=)
NM_005050.4(ABCD4):c.1680C>G (p.Ser560Arg)
NM_005050.4(ABCD4):c.1752+2T>C
NM_005050.4(ABCD4):c.352C>T (p.His118Tyr)
NM_005050.4(ABCD4):c.364C>T (p.Leu122Phe)
NM_005050.4(ABCD4):c.406C>T (p.Arg136Trp)
NM_005050.4(ABCD4):c.503C>T (p.Pro168Leu)
NM_005050.4(ABCD4):c.565A>G (p.Ser189Gly)
NM_005334.3(HCFC1):c.1427C>T (p.Thr476Ile)
NM_005334.3(HCFC1):c.1429G>A (p.Ala477Thr) rs782010359
NM_005334.3(HCFC1):c.3563C>T (p.Ser1188Leu)
NM_005334.3(HCFC1):c.3695G>A (p.Arg1232His)
NM_005334.3(HCFC1):c.4109C>T (p.Ser1370Leu)
NM_005334.3(HCFC1):c.4153A>G (p.Arg1385Gly)
NM_005334.3(HCFC1):c.4242G>C (p.Gln1414His)
NM_005334.3(HCFC1):c.4315A>C (p.Asn1439His) rs782138046
NM_005334.3(HCFC1):c.4576G>A (p.Ala1526Thr) rs782652831
NM_005334.3(HCFC1):c.4815G>A (p.Thr1605=)
NM_005334.3(HCFC1):c.5391_5393GCC[1] (p.Pro1801del)
NM_014362.4(HIBCH):c.1053T>G (p.Ile351Met)
NM_014362.4(HIBCH):c.182C>T (p.Thr61Ile)
NM_014362.4(HIBCH):c.196C>T (p.Arg66Trp) rs757976755
NM_014362.4(HIBCH):c.238G>C (p.Glu80Gln)
NM_014362.4(HIBCH):c.410C>T (p.Ala137Val) rs1114167288
NM_014362.4(HIBCH):c.794T>C (p.Met265Thr)
NM_014384.2(ACAD8):c.*168G>A rs144390733
NM_014384.2(ACAD8):c.*238G>C rs886048026
NM_014384.2(ACAD8):c.*306C>T rs886048027
NM_014384.2(ACAD8):c.*351C>G rs561907589
NM_014384.2(ACAD8):c.*441C>G rs886048028
NM_014384.2(ACAD8):c.*494A>G rs148808998
NM_014384.2(ACAD8):c.*608G>A rs143912522
NM_014384.2(ACAD8):c.*652C>G rs139716145
NM_014384.2(ACAD8):c.*696A>G rs886048029
NM_014384.2(ACAD8):c.*705T>G rs534413850
NM_014384.2(ACAD8):c.*874C>G rs756666725
NM_014384.2(ACAD8):c.1000C>T (p.Arg334Cys)
NM_014384.2(ACAD8):c.1004A>G (p.Asn335Ser) rs768954546
NM_014384.2(ACAD8):c.1092C>T (p.Ala364=) rs146813391
NM_014384.2(ACAD8):c.110-9T>C rs371550147
NM_014384.2(ACAD8):c.1233C>T (p.Ser411=) rs146145710
NM_014384.2(ACAD8):c.211-4A>G rs517424
NM_014384.2(ACAD8):c.250C>G (p.Leu84Val) rs1330918776
NM_014384.2(ACAD8):c.275A>G (p.Gln92Arg) rs886048022
NM_014384.2(ACAD8):c.292T>C (p.Ser98Pro)
NM_014384.2(ACAD8):c.293C>T (p.Ser98Phe) rs948304437
NM_014384.2(ACAD8):c.2T>C (p.Met1Thr)
NM_014384.2(ACAD8):c.308T>G (p.Leu103Arg)
NM_014384.2(ACAD8):c.337G>A (p.Ala113Thr) rs751633406
NM_014384.2(ACAD8):c.381-4T>A rs886048023
NM_014384.2(ACAD8):c.409G>A (p.Gly137Arg) rs371449613
NM_014384.2(ACAD8):c.432A>G (p.Lys144=) rs886048024
NM_014384.2(ACAD8):c.466G>T (p.Ala156Ser) rs201273972
NM_014384.2(ACAD8):c.525C>T (p.Ser175=) rs142343253
NM_014384.2(ACAD8):c.558T>C (p.Asn186=) rs886048025
NM_014384.2(ACAD8):c.567+12C>T rs375812492
NM_014384.2(ACAD8):c.643A>G (p.Ile215Val)
NM_014384.2(ACAD8):c.730C>T (p.Arg244Ter) rs746960051
NM_014384.2(ACAD8):c.734C>T (p.Ala245Val)
NM_014384.2(ACAD8):c.784G>A (p.Glu262Lys) rs368653287
NM_014384.2(ACAD8):c.841+15G>A rs770612690
NM_014384.2(ACAD8):c.841+9C>T rs777635296
NM_014384.2(ACAD8):c.842-8C>G rs201188279
NM_014384.2(ACAD8):c.905G>C (p.Arg302Pro)
NM_014384.2(ACAD8):c.958G>A (p.Ala320Thr) rs200620279
NM_014384.2(ACAD8):c.965T>C (p.Met322Thr) rs577976129
NM_014384.2(ACAD8):c.988C>T (p.Arg330Trp) rs121908420
NM_014384.2(ACAD8):c.99C>T (p.Ser33=) rs886048021
NM_015506.2(MMACHC):c.271dupA rs398124292
NM_015506.3(MMACHC):c.*5C>G rs557994288
NM_015506.3(MMACHC):c.181C>T (p.Arg61Trp) rs200483477
NM_015506.3(MMACHC):c.182G>A (p.Arg61Gln) rs201777449
NM_015506.3(MMACHC):c.277-8_277-3dup rs756072947
NM_015506.3(MMACHC):c.316G>A (p.Glu106Lys) rs201617713
NM_015506.3(MMACHC):c.349G>C (p.Ala117Pro) rs752205161
NM_015506.3(MMACHC):c.364C>A (p.His122Asn) rs372918203
NM_015506.3(MMACHC):c.373_381del (p.Gly125_Ala127del) rs1553162848
NM_015506.3(MMACHC):c.392_394del (p.Gln131del) rs779234540
NM_015506.3(MMACHC):c.395_397del (p.Arg132del) rs1455190457
NM_015506.3(MMACHC):c.403G>T (p.Val135Leu) rs886046368
NM_015506.3(MMACHC):c.40G>A (p.Asp14Asn)
NM_015506.3(MMACHC):c.436_450del (p.Ser146_Ile150del) rs747550590
NM_015506.3(MMACHC):c.446G>A (p.Cys149Tyr) rs1161394470
NM_015506.3(MMACHC):c.467G>A (p.Gly156Asp) rs1553162910
NM_015506.3(MMACHC):c.472T>C (p.Phe158Leu) rs201312386
NM_015506.3(MMACHC):c.488T>C (p.Val163Ala)
NM_015506.3(MMACHC):c.491_493TGC[2] (p.Leu166del) rs1249948465
NM_015506.3(MMACHC):c.544T>C (p.Cys182Arg) rs955468279
NM_015506.3(MMACHC):c.548T>C (p.Val183Ala)
NM_015506.3(MMACHC):c.561_572del (p.Asp188_Ala191del) rs1553162937
NM_015506.3(MMACHC):c.566G>A (p.Arg189His) rs761221416
NM_015506.3(MMACHC):c.572C>T (p.Ala191Val)
NM_015506.3(MMACHC):c.616C>T (p.Arg206Trp) rs538023671
NM_015506.3(MMACHC):c.617G>C (p.Arg206Pro) rs371753672
NM_015506.3(MMACHC):c.650A>T (p.Glu217Val) rs199641732
NM_015506.3(MMACHC):c.701del (p.Leu234fs) rs767339897
NM_015506.3(MMACHC):c.728del (p.Pro243fs) rs1409915649
NM_015506.3(MMACHC):c.745dup (p.Asp249fs) rs1553162993
NM_015506.3(MMACHC):c.771dup (p.Lys258fs) rs763886783
NM_015506.3(MMACHC):c.799dup (p.Arg267fs) rs1553163005
NM_015506.3(MMACHC):c.800G>A (p.Arg267Gln) rs765822392
NM_015506.3(MMACHC):c.82-11_82-8del rs751236442
NM_015506.3(MMACHC):c.839del (p.Pro280fs) rs1553163017
NM_015506.3(MMACHC):c.840del (p.Gly281fs) rs757384010
NM_015506.3(MMACHC):c.848G>C (p.Ter283Ser) rs201025783
NM_015506.3(MMACHC):c.848G>T (p.Ter283Leu) rs201025783
NM_015506.3(MMACHC):c.848_*2del (p.Ter283PheextTer?) rs1553163021
NM_015506.3(MMACHC):c.848del (p.Ter283TyrextTer?) rs1553163024
NM_015506.3(MMACHC):c.849A>G (p.Ter283Trp) rs769732556
NM_015506.3(MMACHC):c.849del (p.Ter283CysextTer?) rs1553163027
NM_015506.3(MMACHC):c.88T>C (p.Trp30Arg)
NM_015702.3(MMADHC):c.41A>G (p.Tyr14Cys)
NM_015702.3(MMADHC):c.455C>G (p.Thr152Arg)
NM_015702.3(MMADHC):c.607A>G (p.Lys203Glu) rs1553453961
NM_018368.4(LMBRD1):c.1214C>G (p.Thr405Ser)
NM_018368.4(LMBRD1):c.1347A>G (p.Ile449Met) rs771561971
NM_018368.4(LMBRD1):c.400T>C (p.Cys134Arg)
NM_018368.4(LMBRD1):c.596C>T (p.Ser199Phe)
NM_018368.4(LMBRD1):c.688G>A (p.Ala230Thr)
NM_018368.4(LMBRD1):c.796A>G (p.Lys266Glu) rs771226867
NM_018368.4(LMBRD1):c.905G>A (p.Arg302His)
NM_020166.3(MCCC1):c.640_641delGG (p.Gly214Asnfs) rs886058209
NM_020166.5(MCCC1):c.*1A>T rs115605600
NM_020166.5(MCCC1):c.*45A>T rs186406584
NM_020166.5(MCCC1):c.-23C>T rs374636986
NM_020166.5(MCCC1):c.1153A>G (p.Arg385Gly) rs1553854969
NM_020166.5(MCCC1):c.1222C>T (p.Pro408Ser) rs1560224165
NM_020166.5(MCCC1):c.1223C>T (p.Pro408Leu)
NM_020166.5(MCCC1):c.1261C>T (p.Arg421Trp) rs764744442
NM_020166.5(MCCC1):c.1281C>T (p.Ser427=) rs763713221
NM_020166.5(MCCC1):c.1302T>G (p.Ile434Met)
NM_020166.5(MCCC1):c.1303G>A (p.Ala435Thr)
NM_020166.5(MCCC1):c.1304C>T (p.Ala435Val)
NM_020166.5(MCCC1):c.130_131delinsTT (p.Ala44Phe) rs1553868919
NM_020166.5(MCCC1):c.1315G>A (p.Val439Met) rs398124352
NM_020166.5(MCCC1):c.131C>T (p.Ala44Val) rs200673204
NM_020166.5(MCCC1):c.1331G>A (p.Arg444His)
NM_020166.5(MCCC1):c.1339G>A (p.Ala447Thr) rs546480708
NM_020166.5(MCCC1):c.1339G>T (p.Ala447Ser) rs546480708
NM_020166.5(MCCC1):c.137-10T>G rs1560281403
NM_020166.5(MCCC1):c.137G>A (p.Gly46Glu) rs199517715
NM_020166.5(MCCC1):c.1422_1426delinsAA (p.Gly475_His476delinsAsn) rs1560219885
NM_020166.5(MCCC1):c.1499G>A (p.Arg500Gln) rs78726268
NM_020166.5(MCCC1):c.1561G>A (p.Ala521Thr)
NM_020166.5(MCCC1):c.1595A>G (p.Asp532Gly)
NM_020166.5(MCCC1):c.1614G>A (p.Ser538=) rs34749281
NM_020166.5(MCCC1):c.1632A>C (p.Arg544Ser) rs1553853001
NM_020166.5(MCCC1):c.1658T>A (p.Met553Lys) rs774055789
NM_020166.5(MCCC1):c.1701G>A (p.Thr567=) rs377320336
NM_020166.5(MCCC1):c.1703A>G (p.Tyr568Cys)
NM_020166.5(MCCC1):c.1724G>A (p.Ser575Asn) rs886058206
NM_020166.5(MCCC1):c.1730A>G (p.Gln577Arg)
NM_020166.5(MCCC1):c.1731+6C>A rs369754994
NM_020166.5(MCCC1):c.1773C>T (p.Ser591=)
NM_020166.5(MCCC1):c.1792C>A (p.Leu598Met) rs138480247
NM_020166.5(MCCC1):c.1894C>T (p.Pro632Ser) rs142867987
NM_020166.5(MCCC1):c.1942G>A (p.Gly648Ser)
NM_020166.5(MCCC1):c.1994G>A (p.Gly665Glu)
NM_020166.5(MCCC1):c.2030T>G (p.Met677Arg) rs1553849443
NM_020166.5(MCCC1):c.2050-6_2050-5del rs780558586
NM_020166.5(MCCC1):c.2051A>G (p.His684Arg) rs1553848994
NM_020166.5(MCCC1):c.2088dup (p.Val697fs)
NM_020166.5(MCCC1):c.2123dup (p.His708fs)
NM_020166.5(MCCC1):c.2171C>T (p.Ser724Leu) rs201806708
NM_020166.5(MCCC1):c.231G>A (p.Ala77=) rs144230304
NM_020166.5(MCCC1):c.239G>A (p.Ser80Asn) rs774565207
NM_020166.5(MCCC1):c.245C>G (p.Ala82Gly)
NM_020166.5(MCCC1):c.295G>A (p.Gly99Ser)
NM_020166.5(MCCC1):c.295G>C (p.Gly99Arg)
NM_020166.5(MCCC1):c.320A>G (p.Tyr107Cys)
NM_020166.5(MCCC1):c.350C>A (p.Ala117Asp)
NM_020166.5(MCCC1):c.359C>T (p.Ser120Phe) rs1307589698
NM_020166.5(MCCC1):c.388G>A (p.Gly130Ser) rs202197951
NM_020166.5(MCCC1):c.535G>A (p.Glu179Lys)
NM_020166.5(MCCC1):c.559T>C (p.Ser187Pro)
NM_020166.5(MCCC1):c.623G>A (p.Arg208Gln) rs780352053
NM_020166.5(MCCC1):c.626G>A (p.Gly209Asp)
NM_020166.5(MCCC1):c.635G>C (p.Gly212Ala)
NM_020166.5(MCCC1):c.639+13A>G rs140342772
NM_020166.5(MCCC1):c.641G>A (p.Gly214Glu) rs1248070890
NM_020166.5(MCCC1):c.729T>C (p.Ala243=) rs886058208
NM_020166.5(MCCC1):c.758C>T (p.Pro253Leu) rs202083272
NM_020166.5(MCCC1):c.768A>G (p.Val256=) rs567236851
NM_020166.5(MCCC1):c.794A>G (p.His265Arg) rs759707763
NM_020166.5(MCCC1):c.83C>T (p.Pro28Leu)
NM_020166.5(MCCC1):c.842G>A (p.Arg281Gln)
NM_020166.5(MCCC1):c.860A>G (p.Glu287Gly)
NM_020166.5(MCCC1):c.863A>G (p.Glu288Gly) rs746500530
NM_020166.5(MCCC1):c.872C>T (p.Ala291Val) rs201041864
NM_020166.5(MCCC1):c.873G>A (p.Ala291=) rs138794621
NM_020166.5(MCCC1):c.950G>C (p.Gly317Ala)
NM_020166.5(MCCC1):c.984A>T (p.Lys328Asn)
NM_020166.5(MCCC1):c.994T>G (p.Cys332Gly) rs886058207
NM_022132.4(MCCC2):c.1367_1368inv (p.Ala456Val)
NM_022132.5(MCCC2):c.*1080G>T rs7727902
NM_022132.5(MCCC2):c.*1144A>G rs886060747
NM_022132.5(MCCC2):c.*1354C>T rs538509005
NM_022132.5(MCCC2):c.*1381A>C rs115650149
NM_022132.5(MCCC2):c.*245T>C rs11551918
NM_022132.5(MCCC2):c.*260T>A rs886060739
NM_022132.5(MCCC2):c.*368T>C rs769233664
NM_022132.5(MCCC2):c.*526C>T rs181669670
NM_022132.5(MCCC2):c.*565C>A rs565365607
NM_022132.5(MCCC2):c.*577T>A rs150412501
NM_022132.5(MCCC2):c.*659C>T rs886060740
NM_022132.5(MCCC2):c.*699T>C rs886060741
NM_022132.5(MCCC2):c.*719del rs886060742
NM_022132.5(MCCC2):c.*725C>T rs370508668
NM_022132.5(MCCC2):c.*819G>A rs565662004
NM_022132.5(MCCC2):c.*839T>C rs886060743
NM_022132.5(MCCC2):c.*856C>T rs886060744
NM_022132.5(MCCC2):c.*878T>G rs886060745
NM_022132.5(MCCC2):c.*940C>G rs886060746
NM_022132.5(MCCC2):c.-38G>A rs186132078
NM_022132.5(MCCC2):c.1043A>G (p.Lys348Arg)
NM_022132.5(MCCC2):c.1235A>C (p.Glu412Ala)
NM_022132.5(MCCC2):c.125A>G (p.Tyr42Cys)
NM_022132.5(MCCC2):c.1273A>G (p.Met425Val) rs766591766
NM_022132.5(MCCC2):c.1282G>A (p.Ala428Thr)
NM_022132.5(MCCC2):c.129G>A (p.Gln43=)
NM_022132.5(MCCC2):c.1309A>G (p.Ile437Val) rs119103224
NM_022132.5(MCCC2):c.1322T>C (p.Ile441Thr) rs139852818
NM_022132.5(MCCC2):c.1407dup (p.Ile470fs) rs1561848250
NM_022132.5(MCCC2):c.1423G>A (p.Gly475Arg) rs148773718
NM_022132.5(MCCC2):c.1433C>G (p.Ala478Gly) rs35068278
NM_022132.5(MCCC2):c.1441G>A (p.Val481Met) rs767575019
NM_022132.5(MCCC2):c.1450A>C (p.Thr484Pro) rs1554138549
NM_022132.5(MCCC2):c.1504G>C (p.Glu502Gln)
NM_022132.5(MCCC2):c.1559A>C (p.Tyr520Ser) rs150327768
NM_022132.5(MCCC2):c.1572A>T (p.Ala524=) rs886060738
NM_022132.5(MCCC2):c.1635dup (p.Ser546Ter) rs768272570
NM_022132.5(MCCC2):c.1640C>T (p.Ala547Val) rs778172446
NM_022132.5(MCCC2):c.1657A>G (p.Ile553Val) rs143156315
NM_022132.5(MCCC2):c.1690T>C (p.Ter564Gln)
NM_022132.5(MCCC2):c.295G>A (p.Glu99Lys) rs119103219
NM_022132.5(MCCC2):c.430G>T (p.Ala144Ser)
NM_022132.5(MCCC2):c.436T>G (p.Tyr146Asp) rs1402663229
NM_022132.5(MCCC2):c.455A>C (p.Lys152Thr) rs1554134065
NM_022132.5(MCCC2):c.478G>A (p.Ala160Thr) rs727504009
NM_022132.5(MCCC2):c.499T>C (p.Cys167Arg) rs119103222
NM_022132.5(MCCC2):c.506A>G (p.Tyr169Cys)
NM_022132.5(MCCC2):c.568C>T (p.His190Tyr) rs773774134
NM_022132.5(MCCC2):c.599T>A (p.Ile200Asn) rs140806722
NM_022132.5(MCCC2):c.615T>G (p.Asn205Lys) rs368906147
NM_022132.5(MCCC2):c.641G>C (p.Gly214Ala)
NM_022132.5(MCCC2):c.653C>T (p.Ala218Val)
NM_022132.5(MCCC2):c.665A>G (p.Tyr222Cys) rs753735697
NM_022132.5(MCCC2):c.675C>A (p.Ala225=) rs781610298
NM_022132.5(MCCC2):c.709G>C (p.Gly237Arg) rs781559418
NM_022132.5(MCCC2):c.72C>G (p.His24Gln) rs374686220
NM_022132.5(MCCC2):c.995G>A (p.Arg332Gln) rs144203670
NM_022132.5(MCCC2):c.999G>T (p.Glu333Asp) rs1487531101
NM_025136.3(OPA3):c.-47_-40delGCCCCGCC rs886054542
NM_025136.3(OPA3):c.-96A>G rs566870092
NM_030943.3(AMN):c.1343_1348dup (p.Gly448_Ala449dup) rs36040113
NM_030943.3(AMN):c.400C>G (p.Arg134Gly) rs758317090
NM_030943.3(AMN):c.989C>A (p.Ala330Glu)
NM_032601.4(MCEE):c.10G>T (p.Val4Leu)
NM_032601.4(MCEE):c.235C>G (p.Leu79Val)
NM_032601.4(MCEE):c.311G>A (p.Arg104His)
NM_032861.4(SERAC1):c.1084A>T (p.Ile362Phe)
NM_032861.4(SERAC1):c.1577G>A (p.Gly526Glu) rs1554261079
NM_032861.4(SERAC1):c.1765G>A (p.Glu589Lys)
NM_032861.4(SERAC1):c.568C>T (p.Arg190Cys)
NM_032861.4(SERAC1):c.660A>G (p.Gln220=) rs776026202
NM_032861.4(SERAC1):c.674A>G (p.Glu225Gly)
NM_032861.4(SERAC1):c.91A>G (p.Arg31Gly)
NM_032861.4(SERAC1):c.92-13_92-10del rs779302645
NM_052845.3(MMAB):c.-69G>A rs886048928
NM_052845.4(MMAB):c.19_36GGGAGCCGTCTTGGCCTG[1] (p.7_12GSRLGL[1]) rs770077320
NM_052845.4(MMAB):c.316A>G (p.Lys106Glu) rs765917146
NM_052845.4(MMAB):c.349-8dup rs759049347
NM_052845.4(MMAB):c.373G>A (p.Gly125Ser) rs193015172
NM_052845.4(MMAB):c.377C>T (p.Ser126Leu) rs771053425
NM_052845.4(MMAB):c.388_411del (p.Thr130_Glu137del) rs1555274650
NM_052845.4(MMAB):c.394T>C (p.Cys132Arg) rs147457956
NM_052845.4(MMAB):c.398C>T (p.Ser133Phe) rs749936057
NM_052845.4(MMAB):c.402G>A (p.Ser134=)
NM_052845.4(MMAB):c.406C>A (p.Arg136=)
NM_052845.4(MMAB):c.424T>C (p.Tyr142His)
NM_052845.4(MMAB):c.521C>T (p.Ser174Leu) rs140881518
NM_052845.4(MMAB):c.541G>A (p.Ala181Thr) rs1439180009
NM_052845.4(MMAB):c.548A>T (p.His183Leu) rs752866643
NM_052845.4(MMAB):c.557G>A (p.Arg186Gln) rs773059864
NM_052845.4(MMAB):c.562G>A (p.Val188Met) rs768176676
NM_052845.4(MMAB):c.569G>A (p.Arg190His) rs756414548
NM_052845.4(MMAB):c.577G>A (p.Glu193Lys) rs749758687
NM_052845.4(MMAB):c.583C>T (p.Arg195Cys)
NM_052845.4(MMAB):c.620C>T (p.Ala207Val) rs61739388
NM_052845.4(MMAB):c.656A>G (p.Tyr219Cys) rs765547005
NM_145261.4(DNAJC19):c.*190_*193ATTA[1] rs886058203
NM_145261.4(DNAJC19):c.*212C>T rs190670376
NM_145261.4(DNAJC19):c.*325T>C rs886058202
NM_145261.4(DNAJC19):c.*365T>C rs143458718
NM_145261.4(DNAJC19):c.*441G>A rs1805635
NM_145261.4(DNAJC19):c.*488G>C rs576646391
NM_145261.4(DNAJC19):c.*516A>G rs762130203
NM_145261.4(DNAJC19):c.*528_*529GT[9] rs148074891
NM_145261.4(DNAJC19):c.*645A>C rs146964003
NM_145261.4(DNAJC19):c.*692T>C rs555888288
NM_145261.4(DNAJC19):c.-121C>T rs886058205
NM_145261.4(DNAJC19):c.-29G>T rs181271620
NM_145261.4(DNAJC19):c.118C>T (p.Leu40=) rs886058204
NM_145261.4(DNAJC19):c.129+15A>C rs201697391
NM_145261.4(DNAJC19):c.1A>G (p.Met1Val) rs372756221
NM_145261.4(DNAJC19):c.281-12T>C rs141982712
NM_145261.4(DNAJC19):c.59G>A (p.Arg20His) rs756192515
NM_145261.4(DNAJC19):c.62A>T (p.Tyr21Phe)
NM_145261.4(DNAJC19):c.69G>A (p.Leu23=) rs142023670
NM_172250.3(MMAA):c.1060_1065del (p.Glu354_Leu355del) rs1553959122
NM_172250.3(MMAA):c.1075C>G (p.Arg359Gly) rs999844958
NM_172250.3(MMAA):c.1114del (p.Gln372fs) rs765726949
NM_172250.3(MMAA):c.124C>G (p.Gln42Glu) rs758345818
NM_172250.3(MMAA):c.128C>T (p.Pro43Leu) rs886059088
NM_172250.3(MMAA):c.175G>C (p.Asp59His)
NM_172250.3(MMAA):c.295G>A (p.Ala99Thr) rs1553957915
NM_172250.3(MMAA):c.304G>A (p.Ala102Thr) rs1328584680
NM_172250.3(MMAA):c.439+4_439+7del rs1553957939
NM_172250.3(MMAA):c.508_509insAGG (p.Arg170delinsLysGly) rs1553958153
NM_172250.3(MMAA):c.587G>A (p.Arg196Gln) rs144389160
NM_172250.3(MMAA):c.800C>T (p.Ala267Val) rs138854691
NM_172250.3(MMAA):c.833G>A (p.Gly278Asp) rs761964238
NM_172250.3(MMAA):c.989G>A (p.Arg330Gln)
NM_174917.5(ACSF3):c.1081G>A (p.Gly361Ser) rs145285434
NM_174917.5(ACSF3):c.122A>T (p.Asp41Val)
NM_174917.5(ACSF3):c.1406G>A (p.Arg469Gln) rs144681140
NM_174917.5(ACSF3):c.1411C>T (p.Arg471Trp) rs138680796
NM_174917.5(ACSF3):c.313G>A (p.Asp105Asn)
NM_174917.5(ACSF3):c.358G>A (p.Gly120Ser)
NM_174917.5(ACSF3):c.431C>T (p.Ser144Phe)
NM_174917.5(ACSF3):c.506C>T (p.Pro169Leu)
NM_174917.5(ACSF3):c.541G>A (p.Glu181Lys) rs1567685421
NM_174917.5(ACSF3):c.682C>G (p.His228Asp)
Single allele

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