ClinVar Miner

List of variants reported as uncertain significance for classic organic aciduria by Illumina Clinical Services Laboratory,Illumina

Included ClinVar conditions (39):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 1302
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HGVS dbSNP
NC_000010.11:g.123008921A>T
NC_000010.11:g.123009002G>T
NC_000011.10:g.108147755C>T
NC_000011.10:g.108147774A>C
NC_000011.10:g.108147787C>T
NC_000011.10:g.108147964G>C
NC_000011.10:g.108148058G>T
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.-70T>A rs566741161
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.-5C>T
NM_000019.4(ACAT1):c.1006-10A>G rs886047596
NM_000019.4(ACAT1):c.1191T>C (p.His397=)
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.1279C>A (p.Leu427Met)
NM_000019.4(ACAT1):c.155T>C (p.Ile52Thr)
NM_000019.4(ACAT1):c.15G>C (p.Ala5=) rs886047594
NM_000019.4(ACAT1):c.239-7A>G
NM_000019.4(ACAT1):c.239-8T>A rs202030208
NM_000019.4(ACAT1):c.291A>T (p.Gly97=) rs746216662
NM_000019.4(ACAT1):c.29G>A (p.Ser10Asn) rs886047595
NM_000019.4(ACAT1):c.378T>C (p.Cys126=)
NM_000019.4(ACAT1):c.436-4G>C rs3741050
NM_000019.4(ACAT1):c.532T>C (p.Leu178=) rs370063325
NM_000019.4(ACAT1):c.721A>G (p.Thr241Ala)
NM_000019.4(ACAT1):c.754G>A (p.Glu252Lys)
NM_000019.4(ACAT1):c.770A>C (p.Lys257Thr) rs370652435
NM_000019.4(ACAT1):c.858G>A (p.Leu286=)
NM_000019.4(ACAT1):c.890C>A (p.Thr297Lys) rs886041122
NM_000019.4(ACAT1):c.941-13T>C
NM_000019.4(ACAT1):c.941-14C>T rs12801620
NM_000019.4(ACAT1):c.941-14_941-13insCT rs1555034894
NM_000019.4(ACAT1):c.979A>G (p.Ile327Val) rs150038447
NM_000116.5(TAFAZZIN):c.*165T>A
NM_000116.5(TAFAZZIN):c.*33G>A
NM_000116.5(TAFAZZIN):c.*387C>T rs1057515819
NM_000116.5(TAFAZZIN):c.*618A>G
NM_000116.5(TAFAZZIN):c.*648A>C
NM_000116.5(TAFAZZIN):c.351G>A (p.Lys117=)
NM_000116.5(TAFAZZIN):c.49T>C (p.Trp17Arg)
NM_000116.5(TAFAZZIN):c.504G>A (p.Lys168=) rs1057515818
NM_000116.5(TAFAZZIN):c.535C>G (p.Pro179Ala) rs397515744
NM_000116.5(TAFAZZIN):c.647-6C>T
NM_000191.3(HMGCL):c.*104G>A rs552915017
NM_000191.3(HMGCL):c.*290T>C rs886046311
NM_000191.3(HMGCL):c.*338G>C
NM_000191.3(HMGCL):c.*366G>A
NM_000191.3(HMGCL):c.*388G>A
NM_000191.3(HMGCL):c.*414G>A rs886046310
NM_000191.3(HMGCL):c.173A>G (p.Lys58Arg)
NM_000191.3(HMGCL):c.254T>C (p.Met85Thr) rs886046314
NM_000191.3(HMGCL):c.340G>A (p.Glu114Lys)
NM_000191.3(HMGCL):c.349-3C>A
NM_000191.3(HMGCL):c.454G>A (p.Ala152Thr) rs146306707
NM_000191.3(HMGCL):c.497+3G>A rs763178392
NM_000191.3(HMGCL):c.501C>T (p.Tyr167=) rs200189529
NM_000191.3(HMGCL):c.56G>C (p.Arg19Pro)
NM_000191.3(HMGCL):c.594C>T (p.Tyr198=) rs139799938
NM_000191.3(HMGCL):c.630C>T (p.Thr210=) rs886046313
NM_000191.3(HMGCL):c.708C>T (p.Asp236=) rs886046312
NM_000191.3(HMGCL):c.720A>G (p.Gln240=)
NM_000191.3(HMGCL):c.734C>T (p.Thr245Ile) rs761468576
NM_000191.3(HMGCL):c.750+14T>A rs778868742
NM_000191.3(HMGCL):c.787C>A (p.Leu263Ile)
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.933C>G (p.Asn311Lys)
NM_000255.4(MMUT):c.*103A>G rs886061558
NM_000255.4(MMUT):c.*1044T>A
NM_000255.4(MMUT):c.*1182T>C
NM_000255.4(MMUT):c.*1184T>C
NM_000255.4(MMUT):c.*1214C>A rs886061551
NM_000255.4(MMUT):c.*1252T>C rs781039564
NM_000255.4(MMUT):c.*126A>G rs192605776
NM_000255.4(MMUT):c.*1319C>T
NM_000255.4(MMUT):c.*200A>T rs886061556
NM_000255.4(MMUT):c.*257A>C rs187747098
NM_000255.4(MMUT):c.*278A>G rs182726681
NM_000255.4(MMUT):c.*281G>A
NM_000255.4(MMUT):c.*43G>T rs868855862
NM_000255.4(MMUT):c.*445A>G
NM_000255.4(MMUT):c.*465C>T rs886061555
NM_000255.4(MMUT):c.*466G>A
NM_000255.4(MMUT):c.*558A>G rs111322712
NM_000255.4(MMUT):c.*627C>T
NM_000255.4(MMUT):c.*636T>A
NM_000255.4(MMUT):c.*691T>C rs886061554
NM_000255.4(MMUT):c.*775A>G rs886061553
NM_000255.4(MMUT):c.*986G>A rs886061552
NM_000255.4(MMUT):c.-135G>T rs778890521
NM_000255.4(MMUT):c.-47G>A
NM_000255.4(MMUT):c.-78C>A rs553218776
NM_000255.4(MMUT):c.-79G>A
NM_000255.4(MMUT):c.1091A>C (p.Tyr364Ser)
NM_000255.4(MMUT):c.1115T>C (p.Ile372Thr) rs150968643
NM_000255.4(MMUT):c.1125G>A (p.Met375Ile) rs148091558
NM_000255.4(MMUT):c.1332+3A>C rs367641890
NM_000255.4(MMUT):c.1333-8C>T rs199555550
NM_000255.4(MMUT):c.1355T>A (p.Met452Lys) rs760718889
NM_000255.4(MMUT):c.1465G>A (p.Val489Ile)
NM_000255.4(MMUT):c.1515T>C (p.Ile505=) rs772936850
NM_000255.4(MMUT):c.1519A>G (p.Asn507Asp)
NM_000255.4(MMUT):c.1614C>T (p.Thr538=) rs766999822
NM_000255.4(MMUT):c.1629C>T (p.Ser543=) rs150642856
NM_000255.4(MMUT):c.1630G>A (p.Gly544Arg)
NM_000255.4(MMUT):c.1669C>T (p.Arg557Trp) rs886061559
NM_000255.4(MMUT):c.168A>G (p.Pro56=)
NM_000255.4(MMUT):c.1762C>T (p.Arg588Cys) rs140727018
NM_000255.4(MMUT):c.1808+15T>C rs369131814
NM_000255.4(MMUT):c.1809G>T (p.Arg603Ser)
NM_000255.4(MMUT):c.189C>A (p.Thr63=) rs777167901
NM_000255.4(MMUT):c.1956+2T>C rs750619189
NM_000255.4(MMUT):c.1963C>T (p.Arg655Cys)
NM_000255.4(MMUT):c.1991C>T (p.Ala664Val) rs137958217
NM_000255.4(MMUT):c.2022C>T (p.Leu674=) rs772652266
NM_000255.4(MMUT):c.2026G>A (p.Ala676Thr) rs147715336
NM_000255.4(MMUT):c.205A>G (p.Ile69Val) rs115923556
NM_000255.4(MMUT):c.2125-2A>G rs1561948924
NM_000255.4(MMUT):c.393G>A (p.Gln131=) rs145682249
NM_000255.4(MMUT):c.41A>T (p.His14Leu) rs886061561
NM_000255.4(MMUT):c.499G>A (p.Val167Met)
NM_000255.4(MMUT):c.572C>T (p.Ala191Val)
NM_000255.4(MMUT):c.598A>G (p.Ile200Val)
NM_000255.4(MMUT):c.846A>G (p.Ala282=)
NM_000255.4(MMUT):c.876C>G (p.Leu292=)
NM_000255.4(MMUT):c.878A>G (p.Gln293Arg) rs138374956
NM_000255.4(MMUT):c.87G>A (p.Gln29=) rs886061560
NM_000255.4(MMUT):c.890C>T (p.Thr297Ile) rs547709692
NM_000282.4(PCCA):c.*116G>A rs886049929
NM_000282.4(PCCA):c.*190C>G rs41281124
NM_000282.4(PCCA):c.*190C>T rs41281124
NM_000282.4(PCCA):c.*223T>G
NM_000282.4(PCCA):c.*34A>C
NM_000282.4(PCCA):c.*91A>G
NM_000282.4(PCCA):c.-20G>A rs374941593
NM_000282.4(PCCA):c.-5C>T rs886049926
NM_000282.4(PCCA):c.1047A>T (p.Glu349Asp)
NM_000282.4(PCCA):c.1065+5C>T rs201597816
NM_000282.4(PCCA):c.1175A>G (p.Asn392Ser)
NM_000282.4(PCCA):c.1193G>C (p.Cys398Ser) rs149293297
NM_000282.4(PCCA):c.1236A>G (p.Pro412=) rs41281120
NM_000282.4(PCCA):c.1404T>G (p.Asp468Glu)
NM_000282.4(PCCA):c.1418A>G (p.Tyr473Cys)
NM_000282.4(PCCA):c.1445T>C (p.Ile482Thr)
NM_000282.4(PCCA):c.1558A>T (p.Ser520Cys) rs112237881
NM_000282.4(PCCA):c.1651G>T (p.Val551Phe) rs61749895
NM_000282.4(PCCA):c.1702A>G (p.Lys568Glu)
NM_000282.4(PCCA):c.1819G>T (p.Val607Phe)
NM_000282.4(PCCA):c.1850T>C (p.Leu617Pro) rs563417983
NM_000282.4(PCCA):c.1896A>G (p.Thr632=) rs61760965
NM_000282.4(PCCA):c.1953G>A (p.Leu651=)
NM_000282.4(PCCA):c.1987C>T (p.Arg663Cys)
NM_000282.4(PCCA):c.2017G>C (p.Val673Leu) rs142646074
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.2172C>T (p.Leu724=) rs150352833
NM_000282.4(PCCA):c.230G>A (p.Arg77Gln) rs1387778734
NM_000282.4(PCCA):c.231+15C>T rs202049874
NM_000282.4(PCCA):c.328G>C (p.Val110Leu) rs150788587
NM_000282.4(PCCA):c.346C>G (p.Pro116Ala)
NM_000282.4(PCCA):c.42C>T (p.Ala14=) rs200714802
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) rs766245108
NM_000282.4(PCCA):c.615dup (p.Val206fs) rs1566767338
NM_000282.4(PCCA):c.638-5G>A
NM_000282.4(PCCA):c.717-4A>G
NM_000282.4(PCCA):c.762C>T (p.Gly254=)
NM_000282.4(PCCA):c.778A>C (p.Ile260Leu) rs769286299
NM_000282.4(PCCA):c.803G>A (p.Arg268His) rs368047060
NM_000282.4(PCCA):c.828T>C (p.Gly276=) rs143838146
NM_000282.4(PCCA):c.929C>G (p.Ala310Gly) rs146927771
NM_000282.4(PCCA):c.943G>A (p.Ala315Thr)
NM_000282.4(PCCA):c.945G>A (p.Ala315=) rs373115130
NM_000282.4(PCCA):c.946A>T (p.Met316Leu)
NM_000411.8(HLCS):c.-393+7C>T rs886057081
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.-34G>A rs372649775
NM_000532.5(PCCB):c.-35G>A rs886058016
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.1221del (p.Ile408fs) rs1560033769
NM_000532.5(PCCB):c.1226del (p.Ile409fs) rs1560033794
NM_000532.5(PCCB):c.1253C>G (p.Ala418Gly)
NM_000532.5(PCCB):c.1352C>T (p.Thr451Ile) rs145135400
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.1520A>G (p.Gln507Arg) rs886058020
NM_000532.5(PCCB):c.163A>T (p.Ile55Phe)
NM_000532.5(PCCB):c.167A>G (p.Asp56Gly)
NM_000532.5(PCCB):c.182G>A (p.Arg61Gln)
NM_000532.5(PCCB):c.183+5G>A rs879253813
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.338G>A (p.Arg113Gln) rs138246328
NM_000532.5(PCCB):c.368G>T (p.Ser123Ile)
NM_000532.5(PCCB):c.429+7G>A rs201986472
NM_000532.5(PCCB):c.45C>T (p.Ser15=) rs754664563
NM_000532.5(PCCB):c.49C>A (p.Leu17Met) rs200185747
NM_000532.5(PCCB):c.544-5G>C rs372351800
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.561C>T (p.Ser187=) rs145057852
NM_000532.5(PCCB):c.595C>T (p.Pro199Ser) rs371155999
NM_000532.5(PCCB):c.603T>C (p.Ala201=) rs141340198
NM_000532.5(PCCB):c.654+14G>T
NM_000532.5(PCCB):c.707A>G (p.Asn236Ser) rs778955184
NM_000532.5(PCCB):c.763+10C>G rs180982841
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.850G>A (p.Asp284Asn)
NM_000532.5(PCCB):c.865C>T (p.Arg289Cys) rs771935604
NM_000532.5(PCCB):c.872G>A (p.Cys291Tyr) rs77820367
NM_000532.5(PCCB):c.882C>T (p.Pro294=) rs142730126
NM_000532.5(PCCB):c.884G>C (p.Ser295Thr)
NM_000532.5(PCCB):c.889C>T (p.Arg297Cys) rs549397464
NM_000532.5(PCCB):c.94G>A (p.Ala32Thr)
NM_001017989.2(OPA3):c.-113T>C rs139731330
NM_001017989.3(OPA3):c.143-16812G>A rs192699227
NM_001081.3(CUBN):c.*177C>G rs886046860
NM_001081.3(CUBN):c.*195T>C rs886046859
NM_001081.3(CUBN):c.*203C>T rs769041830
NM_001081.3(CUBN):c.*281A>G rs886046858
NM_001081.3(CUBN):c.*297C>T rs886046857
NM_001081.3(CUBN):c.*329C>G rs376727720
NM_001081.3(CUBN):c.*329C>T rs376727720
NM_001081.3(CUBN):c.*373G>T rs780298022
NM_001081.3(CUBN):c.*416G>A rs886046856
NM_001081.3(CUBN):c.*436C>A rs574512019
NM_001081.3(CUBN):c.*470T>C rs886046855
NM_001081.3(CUBN):c.*514T>G rs886046854
NM_001081.3(CUBN):c.*560C>T rs45565931
NM_001081.3(CUBN):c.*564G>C rs184284227
NM_001081.3(CUBN):c.*734A>G rs751683958
NM_001081.3(CUBN):c.*782G>A rs570478432
NM_001081.3(CUBN):c.*786T>C rs886046853
NM_001081.3(CUBN):c.*794A>G rs886046852
NM_001081.3(CUBN):c.*81C>A rs886046861
NM_001081.3(CUBN):c.*883G>A rs886046851
NM_001081.3(CUBN):c.-35G>C rs376502722
NM_001081.3(CUBN):c.-42G>T rs751905101
NM_001081.3(CUBN):c.-50G>A rs370711661
NM_001081.3(CUBN):c.10012C>A (p.Gln3338Lys) rs755210947
NM_001081.3(CUBN):c.10076C>T (p.Ser3359Leu) rs140566726
NM_001081.3(CUBN):c.10077G>C (p.Ser3359=) rs147563157
NM_001081.3(CUBN):c.10102A>G (p.Met3368Val) rs767333853
NM_001081.3(CUBN):c.10119C>A (p.Val3373=) rs139596037
NM_001081.3(CUBN):c.10181-14A>G rs886046864
NM_001081.3(CUBN):c.10245C>T (p.Tyr3415=) rs147730705
NM_001081.3(CUBN):c.10363-3A>G rs765943248
NM_001081.3(CUBN):c.1036G>C (p.Val346Leu) rs886046879
NM_001081.3(CUBN):c.10466T>G (p.Phe3489Cys) rs886046863
NM_001081.3(CUBN):c.10641G>A (p.Arg3547=) rs145909413
NM_001081.3(CUBN):c.10752A>T (p.Pro3584=) rs886046862
NM_001081.3(CUBN):c.10846G>A (p.Ala3616Thr) rs564429505
NM_001081.3(CUBN):c.1111+5T>C rs199662739
NM_001081.3(CUBN):c.1604A>G (p.Tyr535Cys) rs139848689
NM_001081.3(CUBN):c.1653C>T (p.Ser551=) rs372499101
NM_001081.3(CUBN):c.1926C>T (p.Asp642=) rs201938886
NM_001081.3(CUBN):c.2013A>G (p.Pro671=) rs137892259
NM_001081.3(CUBN):c.2110+10C>G rs752409034
NM_001081.3(CUBN):c.2120G>A (p.Arg707His) rs763524933
NM_001081.3(CUBN):c.2203G>A (p.Val735Ile) rs370770104
NM_001081.3(CUBN):c.2446+11A>G rs372125740
NM_001081.3(CUBN):c.2447-15T>A rs886046877
NM_001081.3(CUBN):c.2483G>A (p.Arg828His) rs199527884
NM_001081.3(CUBN):c.2536A>G (p.Ile846Val) rs775423928
NM_001081.3(CUBN):c.2610A>G (p.Glu870=) rs143471343
NM_001081.3(CUBN):c.3116A>G (p.Tyr1039Cys) rs150014503
NM_001081.3(CUBN):c.3252A>G (p.Gln1084=) rs142560894
NM_001081.3(CUBN):c.3308A>G (p.Tyr1103Cys) rs760682560
NM_001081.3(CUBN):c.3356T>C (p.Leu1119Ser) rs141164907
NM_001081.3(CUBN):c.349-9T>C rs375431948
NM_001081.3(CUBN):c.3551C>G (p.Pro1184Arg) rs886046876
NM_001081.3(CUBN):c.3604G>A (p.Ala1202Thr) rs141740096
NM_001081.3(CUBN):c.3823C>T (p.Arg1275Trp) rs189294363
NM_001081.3(CUBN):c.387+13C>T rs766779196
NM_001081.3(CUBN):c.3995A>G (p.Asn1332Ser) rs370803308
NM_001081.3(CUBN):c.4020C>G (p.Leu1340=) rs769326338
NM_001081.3(CUBN):c.4092C>G (p.Ser1364=) rs199763912
NM_001081.3(CUBN):c.4167C>T (p.Tyr1389=) rs150510291
NM_001081.3(CUBN):c.4375T>G (p.Ser1459Ala) rs886046875
NM_001081.3(CUBN):c.4669C>T (p.Leu1557Phe) rs140970422
NM_001081.3(CUBN):c.4797G>T (p.Leu1599Phe) rs201294291
NM_001081.3(CUBN):c.4811G>T (p.Gly1604Val) rs751110627
NM_001081.3(CUBN):c.489+14T>C rs886046882
NM_001081.3(CUBN):c.4964C>G (p.Pro1655Arg) rs532968940
NM_001081.3(CUBN):c.5073C>G (p.Pro1691=) rs200977290
NM_001081.3(CUBN):c.5076C>T (p.Leu1692=) rs886046874
NM_001081.3(CUBN):c.5131G>A (p.Ala1711Thr) rs768182223
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.5302A>G (p.Ile1768Val) rs779378713
NM_001081.3(CUBN):c.5305G>C (p.Val1769Leu) rs74116778
NM_001081.3(CUBN):c.5343-6A>G rs776579478
NM_001081.3(CUBN):c.536G>T (p.Gly179Val) rs370373276
NM_001081.3(CUBN):c.5429G>A (p.Arg1810Gln) rs149622438
NM_001081.3(CUBN):c.5569G>A (p.Val1857Met) rs886046873
NM_001081.3(CUBN):c.5796A>G (p.Glu1932=) rs376536525
NM_001081.3(CUBN):c.5862G>A (p.Lys1954=) rs181991723
NM_001081.3(CUBN):c.5961A>G (p.Ala1987=) rs886046872
NM_001081.3(CUBN):c.5967G>C (p.Val1989=) rs139153235
NM_001081.3(CUBN):c.6091A>G (p.Thr2031Ala) rs150392211
NM_001081.3(CUBN):c.6180G>A (p.Gly2060=) rs534571792
NM_001081.3(CUBN):c.6263T>C (p.Phe2088Ser) rs74844886
NM_001081.3(CUBN):c.6277G>A (p.Gly2093Ser) rs759351780
NM_001081.3(CUBN):c.6661G>A (p.Val2221Ile) rs143291127
NM_001081.3(CUBN):c.671G>A (p.Arg224His) rs139891639
NM_001081.3(CUBN):c.6729G>A (p.Pro2243=) rs757609735
NM_001081.3(CUBN):c.7001-4G>A rs886046871
NM_001081.3(CUBN):c.7069T>C (p.Tyr2357His) rs376122892
NM_001081.3(CUBN):c.7070A>C (p.Tyr2357Ser) rs886046870
NM_001081.3(CUBN):c.7106G>T (p.Gly2369Val) rs200593316
NM_001081.3(CUBN):c.7210+9A>G rs117711403
NM_001081.3(CUBN):c.735C>T (p.Cys245=) rs766772944
NM_001081.3(CUBN):c.736G>A (p.Val246Ile) rs760990753
NM_001081.3(CUBN):c.7509G>A (p.Pro2503=) rs201001705
NM_001081.3(CUBN):c.7533A>C (p.Ile2511=) rs748416223
NM_001081.3(CUBN):c.7586G>A (p.Ser2529Asn) rs886046868
NM_001081.3(CUBN):c.7797C>T (p.Cys2599=) rs138758085
NM_001081.3(CUBN):c.7798G>A (p.Glu2600Lys) rs766806038
NM_001081.3(CUBN):c.7816C>A (p.Pro2606Thr) rs886046867
NM_001081.3(CUBN):c.8021G>A (p.Arg2674His) rs184746130
NM_001081.3(CUBN):c.8071G>A (p.Gly2691Arg) rs1801237
NM_001081.3(CUBN):c.8095G>A (p.Val2699Met) rs535261179
NM_001081.3(CUBN):c.814G>A (p.Gly272Arg) rs146035059
NM_001081.3(CUBN):c.8203G>T (p.Asp2735Tyr) rs149802222
NM_001081.3(CUBN):c.8222C>A (p.Thr2741Asn) rs771697506
NM_001081.3(CUBN):c.8233G>A (p.Asp2745Asn) rs886046865
NM_001081.3(CUBN):c.8254G>T (p.Gly2752Cys) rs747786939
NM_001081.3(CUBN):c.827C>T (p.Thr276Ile) rs886046881
NM_001081.3(CUBN):c.8399C>T (p.Thr2800Ile) rs141737312
NM_001081.3(CUBN):c.8412T>C (p.Gly2804=) rs139990077
NM_001081.3(CUBN):c.8479G>A (p.Glu2827Lys) rs373893072
NM_001081.3(CUBN):c.8502G>A (p.Thr2834=) rs749545791
NM_001081.3(CUBN):c.8599-8C>T rs199774490
NM_001081.3(CUBN):c.8656G>A (p.Val2886Met) rs200235278
NM_001081.3(CUBN):c.8701G>A (p.Val2901Ile) rs201093611
NM_001081.3(CUBN):c.8825A>G (p.Asn2942Ser) rs766855509
NM_001081.3(CUBN):c.8831T>G (p.Met2944Arg) rs544783535
NM_001081.3(CUBN):c.8894T>C (p.Phe2965Ser) rs117620008
NM_001081.3(CUBN):c.8908C>T (p.Arg2970Cys) rs562374248
NM_001081.3(CUBN):c.8943C>T (p.Gly2981=) rs767131065
NM_001081.3(CUBN):c.9035C>T (p.Pro3012Leu) rs143741363
NM_001081.3(CUBN):c.9036G>A (p.Pro3012=) rs576867280
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.923A>C (p.Glu308Ala) rs886046880
NM_001081.3(CUBN):c.9267C>T (p.Thr3089=) rs200124646
NM_001081.3(CUBN):c.9298G>A (p.Asp3100Asn) rs202189846
NM_001081.3(CUBN):c.9418G>A (p.Ala3140Thr) rs148491916
NM_001081.3(CUBN):c.9525G>A (p.Ser3175=) rs199499934
NM_001081.3(CUBN):c.9597C>T (p.Leu3199=) rs200457480
NM_001081.3(CUBN):c.9618G>A (p.Leu3206=) rs559567467
NM_001081.3(CUBN):c.9664-9T>G rs145383974
NM_001081.3(CUBN):c.9714T>C (p.Gly3238=) rs141513734
NM_001081.4(CUBN):c.*15G>A
NM_001081.4(CUBN):c.*267A>T
NM_001081.4(CUBN):c.*298G>A
NM_001081.4(CUBN):c.*304G>T
NM_001081.4(CUBN):c.*446A>G
NM_001081.4(CUBN):c.*453A>G
NM_001081.4(CUBN):c.*460C>A
NM_001081.4(CUBN):c.*597A>C
NM_001081.4(CUBN):c.*669C>T
NM_001081.4(CUBN):c.*940A>G
NM_001081.4(CUBN):c.10143C>G (p.Asn3381Lys)
NM_001081.4(CUBN):c.10238A>G (p.Asp3413Gly)
NM_001081.4(CUBN):c.10293C>T (p.His3431=)
NM_001081.4(CUBN):c.10575C>T (p.Pro3525=) rs145569358
NM_001081.4(CUBN):c.10576G>A (p.Gly3526Ser)
NM_001081.4(CUBN):c.10728C>G (p.Asn3576Lys)
NM_001081.4(CUBN):c.10729G>A (p.Ala3577Thr)
NM_001081.4(CUBN):c.10736C>T (p.Ser3579Phe)
NM_001081.4(CUBN):c.10742C>T (p.Ser3581Phe)
NM_001081.4(CUBN):c.10777G>A (p.Ala3593Thr)
NM_001081.4(CUBN):c.1230C>T (p.Ile410=)
NM_001081.4(CUBN):c.1236T>C (p.Thr412=) rs201404467
NM_001081.4(CUBN):c.1405G>C (p.Val469Leu)
NM_001081.4(CUBN):c.165G>A (p.Thr55=)
NM_001081.4(CUBN):c.1719A>T (p.Leu573Phe) rs148313915
NM_001081.4(CUBN):c.2110T>G (p.Ser704Ala)
NM_001081.4(CUBN):c.2151T>C (p.Gly717=)
NM_001081.4(CUBN):c.2311G>A (p.Gly771Ser)
NM_001081.4(CUBN):c.2318C>G (p.Thr773Ser)
NM_001081.4(CUBN):c.2441A>G (p.Gln814Arg)
NM_001081.4(CUBN):c.2673C>T (p.Cys891=)
NM_001081.4(CUBN):c.2932C>A (p.His978Asn)
NM_001081.4(CUBN):c.348+10A>G
NM_001081.4(CUBN):c.3495C>T (p.Cys1165=)
NM_001081.4(CUBN):c.3517A>G (p.Ser1173Gly)
NM_001081.4(CUBN):c.3604G>T (p.Ala1202Ser)
NM_001081.4(CUBN):c.3692G>A (p.Ser1231Asn)
NM_001081.4(CUBN):c.3745C>T (p.Arg1249Cys)
NM_001081.4(CUBN):c.388-3C>T
NM_001081.4(CUBN):c.3931C>T (p.Arg1311Trp)
NM_001081.4(CUBN):c.3944G>A (p.Gly1315Asp)
NM_001081.4(CUBN):c.409A>C (p.Ser137Arg)
NM_001081.4(CUBN):c.4242C>T (p.Asn1414=)
NM_001081.4(CUBN):c.4423A>G (p.Met1475Val)
NM_001081.4(CUBN):c.4598A>G (p.Asn1533Ser)
NM_001081.4(CUBN):c.4633A>C (p.Asn1545His)
NM_001081.4(CUBN):c.4740G>A (p.Thr1580=)
NM_001081.4(CUBN):c.483G>A (p.Gln161=)
NM_001081.4(CUBN):c.5222C>A (p.Thr1741Lys)
NM_001081.4(CUBN):c.5323C>T (p.Arg1775Trp)
NM_001081.4(CUBN):c.5343-11C>T
NM_001081.4(CUBN):c.5397T>C (p.Arg1799=)
NM_001081.4(CUBN):c.5467A>G (p.Ile1823Val)
NM_001081.4(CUBN):c.5794G>C (p.Glu1932Gln)
NM_001081.4(CUBN):c.5840C>A rs147617753
NM_001081.4(CUBN):c.5917A>G (p.Ile1973Val)
NM_001081.4(CUBN):c.6145C>A (p.Gln2049Lys)
NM_001081.4(CUBN):c.6278G>C (p.Gly2093Ala)
NM_001081.4(CUBN):c.6282A>T (p.Gly2094=)
NM_001081.4(CUBN):c.6849G>A (p.Arg2283=) rs373804380
NM_001081.4(CUBN):c.6962G>T (p.Ser2321Ile)
NM_001081.4(CUBN):c.7084T>A (p.Phe2362Ile)
NM_001081.4(CUBN):c.7455G>A (p.Pro2485=)
NM_001081.4(CUBN):c.7837A>C (p.Ile2613Leu)
NM_001081.4(CUBN):c.8016C>T (p.Asn2672=)
NM_001081.4(CUBN):c.8219C>A (p.Thr2740Lys)
NM_001081.4(CUBN):c.8273C>T (p.Pro2758Leu)
NM_001081.4(CUBN):c.8301A>G (p.Ser2767=)
NM_001081.4(CUBN):c.8382T>C (p.Phe2794=)
NM_001081.4(CUBN):c.8617G>A (p.Glu2873Lys)
NM_001081.4(CUBN):c.879A>G (p.Pro293=)
NM_001081.4(CUBN):c.8831T>C (p.Met2944Thr)
NM_001081.4(CUBN):c.8891C>G (p.Ser2964Cys)
NM_001081.4(CUBN):c.8971A>T (p.Met2991Leu)
NM_001081.4(CUBN):c.8977A>G (p.Thr2993Ala)
NM_001081.4(CUBN):c.9037G>T (p.Val3013Phe)
NM_001081.4(CUBN):c.9078C>T (p.Phe3026=) rs140524729
NM_001081.4(CUBN):c.9228C>T (p.Ile3076=)
NM_001081.4(CUBN):c.9335T>C (p.Phe3112Ser)
NM_001081.4(CUBN):c.9397A>C (p.Lys3133Gln)
NM_001081.4(CUBN):c.9442C>T (p.Arg3148Trp)
NM_001081.4(CUBN):c.9990A>C (p.Gln3330His)
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_001352514.2(HLCS):c.*1071G>A
NM_001352514.2(HLCS):c.*1084C>T rs530869762
NM_001352514.2(HLCS):c.*1085G>A
NM_001352514.2(HLCS):c.*1089G>A rs146991267
NM_001352514.2(HLCS):c.*1094T>C
NM_001352514.2(HLCS):c.*1097G>A rs886057070
NM_001352514.2(HLCS):c.*1273T>A rs565500474
NM_001352514.2(HLCS):c.*14C>T
NM_001352514.2(HLCS):c.*1581T>C rs886057069
NM_001352514.2(HLCS):c.*1594A>G rs776064678
NM_001352514.2(HLCS):c.*1614dup rs886057068
NM_001352514.2(HLCS):c.*168G>T
NM_001352514.2(HLCS):c.*1756C>T rs748180401
NM_001352514.2(HLCS):c.*1761_*1762del rs886057067
NM_001352514.2(HLCS):c.*1766G>A
NM_001352514.2(HLCS):c.*1827C>A rs768653798
NM_001352514.2(HLCS):c.*1852G>T rs551457805
NM_001352514.2(HLCS):c.*1856T>C rs151042283
NM_001352514.2(HLCS):c.*1953A>G
NM_001352514.2(HLCS):c.*1997G>A rs886057066
NM_001352514.2(HLCS):c.*2023G>A rs886057065
NM_001352514.2(HLCS):c.*2069T>C
NM_001352514.2(HLCS):c.*2163A>G rs139776215
NM_001352514.2(HLCS):c.*2243C>T rs554230015
NM_001352514.2(HLCS):c.*2267G>T rs886057064
NM_001352514.2(HLCS):c.*2285G>A rs886057063
NM_001352514.2(HLCS):c.*2416C>T
NM_001352514.2(HLCS):c.*2434G>T rs886057062
NM_001352514.2(HLCS):c.*2444C>T
NM_001352514.2(HLCS):c.*2541C>T rs184935954
NM_001352514.2(HLCS):c.*2545C>A rs180866987
NM_001352514.2(HLCS):c.*2555T>C
NM_001352514.2(HLCS):c.*2647T>A
NM_001352514.2(HLCS):c.*2700C>T
NM_001352514.2(HLCS):c.*270dup rs886057074
NM_001352514.2(HLCS):c.*2771C>T
NM_001352514.2(HLCS):c.*2814C>T rs146199781
NM_001352514.2(HLCS):c.*2847G>A
NM_001352514.2(HLCS):c.*2921A>G
NM_001352514.2(HLCS):c.*2945C>T rs71332549
NM_001352514.2(HLCS):c.*2952_*2953CT[1] rs886057061
NM_001352514.2(HLCS):c.*3043A>G
NM_001352514.2(HLCS):c.*3050A>G
NM_001352514.2(HLCS):c.*305T>C
NM_001352514.2(HLCS):c.*3156A>G
NM_001352514.2(HLCS):c.*3159_*3162del rs535525635
NM_001352514.2(HLCS):c.*3161G>T rs886057060
NM_001352514.2(HLCS):c.*3162T>A
NM_001352514.2(HLCS):c.*3162T>C
NM_001352514.2(HLCS):c.*3175A>G
NM_001352514.2(HLCS):c.*3209C>T rs886057059
NM_001352514.2(HLCS):c.*3226del rs35955622
NM_001352514.2(HLCS):c.*3226dup rs35955622
NM_001352514.2(HLCS):c.*3253C>T
NM_001352514.2(HLCS):c.*334A>G rs886057073
NM_001352514.2(HLCS):c.*430T>C
NM_001352514.2(HLCS):c.*448G>C
NM_001352514.2(HLCS):c.*490C>T rs376741921
NM_001352514.2(HLCS):c.*590A>G rs148195019
NM_001352514.2(HLCS):c.*779A>T rs886057072
NM_001352514.2(HLCS):c.*985C>A rs886057071
NM_001352514.2(HLCS):c.1073C>T (p.Thr358Met) rs142524025
NM_001352514.2(HLCS):c.1074G>A (p.Thr358=) rs116985497
NM_001352514.2(HLCS):c.1192A>G (p.Thr398Ala)
NM_001352514.2(HLCS):c.1278G>A (p.Glu426=) rs548505968
NM_001352514.2(HLCS):c.1327G>A (p.Val443Ile)
NM_001352514.2(HLCS):c.1331G>A (p.Arg444Gln) rs146030669
NM_001352514.2(HLCS):c.1535G>A (p.Arg512Lys)
NM_001352514.2(HLCS):c.1550C>T (p.Thr517Ile) rs575286749
NM_001352514.2(HLCS):c.1621-12T>C rs367728041
NM_001352514.2(HLCS):c.1695C>T (p.Leu565=) rs138209330
NM_001352514.2(HLCS):c.1811G>A (p.Arg604His)
NM_001352514.2(HLCS):c.1821G>A (p.Leu607=)
NM_001352514.2(HLCS):c.1857C>A (p.Ala619=) rs759178651
NM_001352514.2(HLCS):c.1943G>A (p.Arg648Gln) rs886057076
NM_001352514.2(HLCS):c.1974dup (p.Val659fs) rs767533946
NM_001352514.2(HLCS):c.1977G>A (p.Val659=) rs886057075
NM_001352514.2(HLCS):c.206A>G (p.Asp69Gly) rs886057080
NM_001352514.2(HLCS):c.2121+1G>A rs1175936807
NM_001352514.2(HLCS):c.2151C>T (p.Asn717=) rs148709879
NM_001352514.2(HLCS):c.2152G>A (p.Asp718Asn) rs119103228
NM_001352514.2(HLCS):c.215A>T (p.Lys72Met) rs191115811
NM_001352514.2(HLCS):c.2352C>T (p.Ile784=) rs150263699
NM_001352514.2(HLCS):c.2418C>T (p.Val806=) rs759416272
NM_001352514.2(HLCS):c.2432A>G (p.Tyr811Cys) rs776535574
NM_001352514.2(HLCS):c.2443G>A (p.Val815Ile)
NM_001352514.2(HLCS):c.2568G>A (p.Pro856=)
NM_001352514.2(HLCS):c.2615G>A (p.Arg872Gln) rs147474255
NM_001352514.2(HLCS):c.294A>C (p.Gln98His) rs751729789
NM_001352514.2(HLCS):c.331-7076C>T rs541806392
NM_001352514.2(HLCS):c.331-7170T>A rs181989786
NM_001352514.2(HLCS):c.445G>A (p.Glu149Lys) rs148981273
NM_001352514.2(HLCS):c.489T>G (p.Ile163Met) rs886057079
NM_001352514.2(HLCS):c.493+9C>A rs886057078
NM_001352514.2(HLCS):c.494-25TC[4] rs146532042
NM_001352514.2(HLCS):c.494-9A>G rs376397597
NM_001352514.2(HLCS):c.500A>G (p.His167Arg) rs577182758
NM_001352514.2(HLCS):c.574C>G (p.Pro192Ala)
NM_001352514.2(HLCS):c.609C>T (p.Asp203=) rs370118884
NM_001352514.2(HLCS):c.652G>A (p.Glu218Lys)
NM_001352514.2(HLCS):c.723C>A (p.Gly241=) rs886057077
NM_001352514.2(HLCS):c.840C>T (p.Tyr280=) rs779907293
NM_001352514.2(HLCS):c.841G>A (p.Asp281Asn) rs148426470
NM_001352514.2(HLCS):c.865G>A (p.Val289Ile) rs149291867
NM_001352514.2(HLCS):c.918A>G (p.Gly306=) rs767988985
NM_001352514.2(HLCS):c.941A>G (p.Tyr314Cys)
NM_001352514.2(HLCS):c.951C>T (p.Ser317=) rs185480832
NM_001363880.1(MCCC1):c.-291C>T rs886058210
NM_001363880.1(MCCC1):c.-292C>A rs543130921
NM_001363880.1(MCCC1):c.-322C>T rs529095789
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.-65G>T rs199516128
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.1112C>T (p.Pro371Leu) rs375239909
NM_001370658.1(BTD):c.1114C>T (p.Pro372Ser) rs886058116
NM_001370658.1(BTD):c.1225G>A (p.Glu409Lys) rs770633850
NM_001370658.1(BTD):c.136C>A (p.Pro46Thr) rs778785164
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.1425C>A (p.Ile475=) rs780182371
NM_001370658.1(BTD):c.1427T>C (p.Phe476Ser) rs886058117
NM_001370658.1(BTD):c.41_44del (p.Gly14fs) rs1249246307
NM_001370658.1(BTD):c.48C>T (p.Tyr16=) rs201823743
NM_001370658.1(BTD):c.585C>T (p.Leu195=) rs145388314
NM_001370658.1(BTD):c.847C>T (p.His283Tyr) rs144084212
NM_001609.3(ACADSB):c.*1195C>A rs886046787
NM_001609.3(ACADSB):c.*1337A>G rs190353878
NM_001609.3(ACADSB):c.*1508C>T rs886046788
NM_001609.3(ACADSB):c.*1543G>T rs886046789
NM_001609.3(ACADSB):c.*1682T>C rs886046790
NM_001609.3(ACADSB):c.*1754A>G rs886046791
NM_001609.3(ACADSB):c.*1840T>G rs886046792
NM_001609.3(ACADSB):c.*1907C>T rs886046793
NM_001609.3(ACADSB):c.*1942C>T rs886046794
NM_001609.3(ACADSB):c.*2060G>A rs886046795
NM_001609.3(ACADSB):c.*2085C>T rs766980366
NM_001609.3(ACADSB):c.*2174A>G rs577027224
NM_001609.3(ACADSB):c.*2224A>C rs192771453
NM_001609.3(ACADSB):c.*2329A>G rs543916865
NM_001609.3(ACADSB):c.*2339G>A rs886046796
NM_001609.3(ACADSB):c.*2529G>A rs182831006
NM_001609.3(ACADSB):c.*2548G>T rs545467732
NM_001609.3(ACADSB):c.*2686G>C rs886046797
NM_001609.3(ACADSB):c.*277A>T rs149609453
NM_001609.3(ACADSB):c.*2803T>C rs187253795
NM_001609.3(ACADSB):c.*285T>C rs552366364
NM_001609.3(ACADSB):c.*2922G>A rs184574685
NM_001609.3(ACADSB):c.*2950A>G rs886046798
NM_001609.3(ACADSB):c.*323G>A rs886046785
NM_001609.3(ACADSB):c.*3340G>C rs886046799
NM_001609.3(ACADSB):c.*3390C>A rs751677400
NM_001609.3(ACADSB):c.*3431C>G rs886046800
NM_001609.3(ACADSB):c.*3470T>C rs547577402
NM_001609.3(ACADSB):c.*3483T>G rs886046801
NM_001609.3(ACADSB):c.*3597G>A rs755235760
NM_001609.3(ACADSB):c.*3619T>C rs886046802
NM_001609.3(ACADSB):c.*3918G>A rs886046803
NM_001609.3(ACADSB):c.*3941C>A rs886046804
NM_001609.3(ACADSB):c.*3993T>A rs886046805
NM_001609.3(ACADSB):c.*4177G>A rs886046806
NM_001609.3(ACADSB):c.*57G>A rs886046783
NM_001609.3(ACADSB):c.*59G>A rs886046784
NM_001609.3(ACADSB):c.*6A>G rs530087761
NM_001609.3(ACADSB):c.*973A>G rs886046786
NM_001609.3(ACADSB):c.-102G>C rs886046775
NM_001609.3(ACADSB):c.-22A>G rs563472823
NM_001609.3(ACADSB):c.-39G>A rs886046776
NM_001609.3(ACADSB):c.1062T>C (p.Ala354=) rs886046780
NM_001609.3(ACADSB):c.1128+2_1128+4del rs1564754575
NM_001609.3(ACADSB):c.1156A>G (p.Ile386Val) rs770827167
NM_001609.3(ACADSB):c.1159G>A (p.Glu387Lys) rs188094280
NM_001609.3(ACADSB):c.1170G>T (p.Gly390=) rs886046781
NM_001609.3(ACADSB):c.1187A>C (p.Lys396Thr) rs148640214
NM_001609.3(ACADSB):c.1213C>T (p.Arg405Ter) rs200154326
NM_001609.3(ACADSB):c.1228+8G>C rs202191462
NM_001609.3(ACADSB):c.1271T>C (p.Ile424Thr) rs748926593
NM_001609.3(ACADSB):c.370G>C (p.Val124Leu) rs375217368
NM_001609.3(ACADSB):c.429C>T (p.Asn143=) rs886046777
NM_001609.3(ACADSB):c.42G>T (p.Leu14=) rs745863047
NM_001609.3(ACADSB):c.544G>T (p.Gly182Cys) rs886046778
NM_001609.3(ACADSB):c.681+14C>T rs748185849
NM_001609.3(ACADSB):c.682-7T>C rs886046779
NM_001609.3(ACADSB):c.795C>T (p.Phe265=) rs150619709
NM_001609.3(ACADSB):c.95T>A (p.Val32Asp) rs751722805
NM_001609.4(ACADSB):c.*1380G>A
NM_001609.4(ACADSB):c.*1552A>G
NM_001609.4(ACADSB):c.*1827G>A
NM_001609.4(ACADSB):c.*1865C>T
NM_001609.4(ACADSB):c.*195G>A
NM_001609.4(ACADSB):c.*1981G>A
NM_001609.4(ACADSB):c.*2581A>C
NM_001609.4(ACADSB):c.*263G>A
NM_001609.4(ACADSB):c.*3178A>C
NM_001609.4(ACADSB):c.*3321C>T
NM_001609.4(ACADSB):c.*3332A>T
NM_001609.4(ACADSB):c.*3409A>T
NM_001609.4(ACADSB):c.*3911A>G
NM_001609.4(ACADSB):c.*4324G>T
NM_001609.4(ACADSB):c.*498G>A
NM_001609.4(ACADSB):c.*808G>A
NM_001609.4(ACADSB):c.*808G>C
NM_001609.4(ACADSB):c.*84G>A
NM_001609.4(ACADSB):c.*972A>G
NM_001609.4(ACADSB):c.-19G>C
NM_001609.4(ACADSB):c.1128+3A>G rs760423996
NM_001609.4(ACADSB):c.1151A>T (p.Lys384Ile)
NM_001609.4(ACADSB):c.1184C>T (p.Thr395Ile)
NM_001609.4(ACADSB):c.1219G>A (p.Ala407Thr)
NM_001609.4(ACADSB):c.1228+21del rs11307362
NM_001609.4(ACADSB):c.1229-15T>G
NM_001609.4(ACADSB):c.219G>A (p.Gln73=)
NM_001609.4(ACADSB):c.496C>G (p.Leu166Val)
NM_001609.4(ACADSB):c.512T>G (p.Val171Gly)
NM_001609.4(ACADSB):c.621G>A (p.Trp207Ter) rs374420253
NM_001609.4(ACADSB):c.675T>C (p.Pro225=)
NM_001609.4(ACADSB):c.960A>T (p.Ile320=) rs147531541
NM_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.1004G>A (p.Arg335His) rs529693736
NM_001698.2(AUH):c.598+10A>C rs186203318
NM_001698.2(AUH):c.678C>T (p.Arg226=) rs143768042
NM_001698.2(AUH):c.719C>T (p.Ala240Val) rs769894315
NM_001698.2(AUH):c.84G>T (p.Ala28=) rs1057515676
NM_001698.2(AUH):c.936T>C (p.Tyr312=) rs139628387
NM_001698.2(AUH):c.951A>T (p.Pro317=) rs530710210
NM_001698.3(AUH):c.*175G>A
NM_001698.3(AUH):c.*237G>A
NM_001698.3(AUH):c.*60G>A
NM_001698.3(AUH):c.381A>G rs146227896
NM_001698.3(AUH):c.655+7G>A
NM_001698.3(AUH):c.679G>A (p.Ala227Thr)
NM_001698.3(AUH):c.894+9C>A
NM_002225.3(IVD):c.-237G>C rs749128466
NM_002225.3(IVD):c.-315C>G rs886051126
NM_002225.5(IVD):c.*1005T>C rs560096869
NM_002225.5(IVD):c.*1090A>G
NM_002225.5(IVD):c.*1117G>A rs886051132
NM_002225.5(IVD):c.*112G>T
NM_002225.5(IVD):c.*1172C>T
NM_002225.5(IVD):c.*1213A>T rs886051133
NM_002225.5(IVD):c.*123G>A rs536728525
NM_002225.5(IVD):c.*1240T>A
NM_002225.5(IVD):c.*1245C>T
NM_002225.5(IVD):c.*1313C>G
NM_002225.5(IVD):c.*131G>A
NM_002225.5(IVD):c.*1636G>A
NM_002225.5(IVD):c.*1839C>G
NM_002225.5(IVD):c.*1884G>A
NM_002225.5(IVD):c.*1898G>A rs886051134
NM_002225.5(IVD):c.*1944C>T
NM_002225.5(IVD):c.*196G>A
NM_002225.5(IVD):c.*1984G>C
NM_002225.5(IVD):c.*2001G>A
NM_002225.5(IVD):c.*2005G>A rs886051135
NM_002225.5(IVD):c.*204T>G rs886051127
NM_002225.5(IVD):c.*2125A>C
NM_002225.5(IVD):c.*2205C>T
NM_002225.5(IVD):c.*2302G>A rs886051136
NM_002225.5(IVD):c.*2389C>T
NM_002225.5(IVD):c.*2494C>G rs781683880
NM_002225.5(IVD):c.*2494C>T
NM_002225.5(IVD):c.*2630G>A rs28654574
NM_002225.5(IVD):c.*287C>T
NM_002225.5(IVD):c.*2883T>A
NM_002225.5(IVD):c.*290dup rs529793013
NM_002225.5(IVD):c.*2960C>T
NM_002225.5(IVD):c.*3036A>C
NM_002225.5(IVD):c.*338G>A rs879231133
NM_002225.5(IVD):c.*566A>G rs549510775
NM_002225.5(IVD):c.*566A>T
NM_002225.5(IVD):c.*568A>T
NM_002225.5(IVD):c.*611T>G rs886051130
NM_002225.5(IVD):c.*652C>T
NM_002225.5(IVD):c.*699G>A
NM_002225.5(IVD):c.*787T>C
NM_002225.5(IVD):c.*798A>G
NM_002225.5(IVD):c.*805G>A
NM_002225.5(IVD):c.*809G>A rs886051131
NM_002225.5(IVD):c.*822G>T
NM_002225.5(IVD):c.1001T>C (p.Met334Thr) rs368041528
NM_002225.5(IVD):c.1138+13C>T
NM_002225.5(IVD):c.1139-8G>C rs755640305
NM_002225.5(IVD):c.1232G>A (p.Arg411Gln) rs143348838
NM_002225.5(IVD):c.150T>A (p.Arg50=) rs762440985
NM_002225.5(IVD):c.400A>G (p.Ile134Val) rs151118565
NM_002225.5(IVD):c.464G>A (p.Ser155Asn) rs140182461
NM_002225.5(IVD):c.490A>G (p.Met164Val)
NM_002225.5(IVD):c.618del (p.Ile206fs) rs781630355
NM_002225.5(IVD):c.784+13G>A rs369694967
NM_002225.5(IVD):c.796C>G (p.Leu266Val) rs766980574
NM_002225.5(IVD):c.823G>C (p.Val275Leu)
NM_002225.5(IVD):c.832A>C (p.Ser278Arg) rs552272986
NM_002225.5(IVD):c.833G>C (p.Ser278Thr)
NM_002225.5(IVD):c.879-5G>A rs750569823
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.*608G>A rs143912522
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.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.275A>G (p.Gln92Arg) rs886048022
NM_014384.2(ACAD8):c.337G>A (p.Ala113Thr) rs751633406
NM_014384.2(ACAD8):c.381-4T>A rs886048023
NM_014384.2(ACAD8):c.432A>G (p.Lys144=) rs886048024
NM_014384.2(ACAD8):c.481A>G (p.Thr161Ala) rs186756646
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) rs151125742
NM_014384.2(ACAD8):c.730C>T (p.Arg244Ter) rs746960051
NM_014384.2(ACAD8):c.841+15G>A rs770612690
NM_014384.2(ACAD8):c.841+9C>T rs777635296
NM_014384.2(ACAD8):c.99C>T (p.Ser33=) rs886048021
NM_014384.3(ACAD8):c.*266T>A
NM_014384.3(ACAD8):c.*622C>T
NM_014384.3(ACAD8):c.*634T>C
NM_014384.3(ACAD8):c.*69G>T
NM_014384.3(ACAD8):c.*82G>C
NM_014384.3(ACAD8):c.110-13A>G
NM_014384.3(ACAD8):c.1147G>A (p.Ala383Thr)
NM_014384.3(ACAD8):c.207G>A (p.Gln69=) rs199868020
NM_014384.3(ACAD8):c.368T>A (p.Ile123Lys)
NM_014384.3(ACAD8):c.380+7G>A
NM_014384.3(ACAD8):c.453C>T (p.Thr151=)
NM_014384.3(ACAD8):c.491-6C>T
NM_014384.3(ACAD8):c.494G>C (p.Ser165Thr)
NM_014384.3(ACAD8):c.806C>T (p.Ala269Val)
NM_014384.3(ACAD8):c.833T>C (p.Ile278Thr)
NM_014384.3(ACAD8):c.842-15G>A
NM_014384.3(ACAD8):c.887G>A (p.Arg296Gln)
NM_014384.3(ACAD8):c.985G>A (p.Ala329Thr)
NM_015702.3(MMADHC):c.*241A>G rs528409808
NM_015702.3(MMADHC):c.*267T>C rs546054980
NM_015702.3(MMADHC):c.-136G>C
NM_015702.3(MMADHC):c.-16A>G rs144111552
NM_015702.3(MMADHC):c.-52-3C>G rs886054922
NM_015702.3(MMADHC):c.-60G>A rs886054923
NM_015702.3(MMADHC):c.-62G>A rs886054924
NM_015702.3(MMADHC):c.10-3T>C rs886054921
NM_015702.3(MMADHC):c.166G>A (p.Val56Met)
NM_015702.3(MMADHC):c.244T>G (p.Cys82Gly) rs760590651
NM_015702.3(MMADHC):c.254A>G (p.Asn85Ser) rs767542742
NM_015702.3(MMADHC):c.373G>C (p.Gly125Arg)
NM_015702.3(MMADHC):c.515A>C (p.Lys172Thr) rs147318949
NM_015702.3(MMADHC):c.578T>C (p.Val193Ala) rs147370143
NM_015702.3(MMADHC):c.646C>G (p.Arg216Gly) rs141093638
NM_015702.3(MMADHC):c.696+13C>A
NM_015702.3(MMADHC):c.697-3C>T
NM_015702.3(MMADHC):c.699T>C (p.Phe233=)
NM_015702.3(MMADHC):c.735T>G (p.Thr245=) rs530553915
NM_015702.3(MMADHC):c.73G>T (p.Val25Phe)
NM_015702.3(MMADHC):c.759A>T (p.Gly253=) rs886054920
NM_015702.3(MMADHC):c.800A>G (p.His267Arg) rs753424109
NM_018368.4(LMBRD1):c.*125A>G rs886061689
NM_018368.4(LMBRD1):c.*166A>G
NM_018368.4(LMBRD1):c.*220G>T
NM_018368.4(LMBRD1):c.*26A>G
NM_018368.4(LMBRD1):c.*384A>C
NM_018368.4(LMBRD1):c.*77G>T rs886061690
NM_018368.4(LMBRD1):c.-103A>G rs369575833
NM_018368.4(LMBRD1):c.-57T>C rs886061693
NM_018368.4(LMBRD1):c.100C>G (p.Arg34Gly) rs773844453
NM_018368.4(LMBRD1):c.115C>T (p.Arg39Trp) rs748879055
NM_018368.4(LMBRD1):c.116G>A (p.Arg39Gln) rs886061692
NM_018368.4(LMBRD1):c.1347A>G (p.Ile449Met) rs771561971
NM_018368.4(LMBRD1):c.1438A>G (p.Thr480Ala) rs138023744
NM_018368.4(LMBRD1):c.1501T>C (p.Phe501Leu)
NM_018368.4(LMBRD1):c.160C>G (p.Leu54Val)
NM_018368.4(LMBRD1):c.1611C>G (p.Val537=)
NM_018368.4(LMBRD1):c.384T>C (p.Asp128=) rs143642515
NM_018368.4(LMBRD1):c.417G>A (p.Thr139=)
NM_018368.4(LMBRD1):c.41G>C (p.Gly14Ala)
NM_018368.4(LMBRD1):c.430A>G (p.Thr144Ala) rs12214456
NM_018368.4(LMBRD1):c.562C>T (p.His188Tyr)
NM_018368.4(LMBRD1):c.582A>G (p.Ser194=)
NM_018368.4(LMBRD1):c.802G>A (p.Ala268Thr) rs143758103
NM_018368.4(LMBRD1):c.867T>A (p.Ile289=)
NM_018368.4(LMBRD1):c.897C>T (p.Gly299=) rs757392138
NM_018368.4(LMBRD1):c.981-14G>T
NM_020166.5(MCCC1):c.*1A>T rs115605600
NM_020166.5(MCCC1):c.*45A>T rs186406584
NM_020166.5(MCCC1):c.*6A>C
NM_020166.5(MCCC1):c.*90G>A
NM_020166.5(MCCC1):c.-23C>T rs374636986
NM_020166.5(MCCC1):c.1281C>T (p.Ser427=) rs763713221
NM_020166.5(MCCC1):c.1282G>A (p.Val428Met)
NM_020166.5(MCCC1):c.130G>T (p.Ala44Ser)
NM_020166.5(MCCC1):c.131C>T (p.Ala44Val) rs200673204
NM_020166.5(MCCC1):c.1339G>T (p.Ala447Ser) rs546480708
NM_020166.5(MCCC1):c.144C>T (p.Asn48=) rs77681010
NM_020166.5(MCCC1):c.1561G>A (p.Ala521Thr) rs149957640
NM_020166.5(MCCC1):c.1565T>C (p.Met522Thr)
NM_020166.5(MCCC1):c.1722T>C (p.Tyr574=)
NM_020166.5(MCCC1):c.1724G>A (p.Ser575Asn) rs886058206
NM_020166.5(MCCC1):c.1792C>A (p.Leu598Met) rs138480247
NM_020166.5(MCCC1):c.1839C>A (p.Ile613=) rs201782543
NM_020166.5(MCCC1):c.1894C>T (p.Pro632Ser) rs142867987
NM_020166.5(MCCC1):c.1941C>T (p.Gly647=)
NM_020166.5(MCCC1):c.1942G>A (p.Gly648Ser) rs149017703
NM_020166.5(MCCC1):c.197G>A (p.Arg66His)
NM_020166.5(MCCC1):c.2050-6_2050-5del rs780558586
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.254A>C (p.Asn85Thr) rs148616219
NM_020166.5(MCCC1):c.388G>A (p.Gly130Ser) rs202197951
NM_020166.5(MCCC1):c.535G>A (p.Glu179Lys) rs201758122
NM_020166.5(MCCC1):c.559T>C (p.Ser187Pro) rs757362635
NM_020166.5(MCCC1):c.623G>A (p.Arg208Gln) rs780352053
NM_020166.5(MCCC1):c.639+13A>G rs140342772
NM_020166.5(MCCC1):c.640_641delGG rs886058209
NM_020166.5(MCCC1):c.729T>C (p.Ala243=) rs886058208
NM_020166.5(MCCC1):c.768A>G (p.Val256=) rs567236851
NM_020166.5(MCCC1):c.994T>G (p.Cys332Gly) rs886058207
NM_020166.5(MCCC1):c.9G>A (p.Ala3=)
NM_022132.5(MCCC2):c.*1144A>G rs886060747
NM_022132.5(MCCC2):c.*1243G>C
NM_022132.5(MCCC2):c.*1272A>G
NM_022132.5(MCCC2):c.*1297G>A
NM_022132.5(MCCC2):c.*1354C>T rs538509005
NM_022132.5(MCCC2):c.*1539G>T
NM_022132.5(MCCC2):c.*1591A>C
NM_022132.5(MCCC2):c.*1649C>T
NM_022132.5(MCCC2):c.*1650G>A
NM_022132.5(MCCC2):c.*16T>A
NM_022132.5(MCCC2):c.*191A>T
NM_022132.5(MCCC2):c.*246A>G
NM_022132.5(MCCC2):c.*260T>A rs886060739
NM_022132.5(MCCC2):c.*368T>C rs769233664
NM_022132.5(MCCC2):c.*378T>A
NM_022132.5(MCCC2):c.*526C>T rs181669670
NM_022132.5(MCCC2):c.*548C>T
NM_022132.5(MCCC2):c.*552C>T
NM_022132.5(MCCC2):c.*565C>A rs565365607
NM_022132.5(MCCC2):c.*659C>T rs886060740
NM_022132.5(MCCC2):c.*699T>C rs886060741
NM_022132.5(MCCC2):c.*700G>T
NM_022132.5(MCCC2):c.*714G>A
NM_022132.5(MCCC2):c.*719A>G
NM_022132.5(MCCC2):c.*719del rs886060742
NM_022132.5(MCCC2):c.*725C>T rs370508668
NM_022132.5(MCCC2):c.*773C>T
NM_022132.5(MCCC2):c.*819G>A rs565662004
NM_022132.5(MCCC2):c.*839T>C rs886060743
NM_022132.5(MCCC2):c.*843A>C
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.*941A>G
NM_022132.5(MCCC2):c.-38G>A rs186132078
NM_022132.5(MCCC2):c.1217-7C>G rs148369119
NM_022132.5(MCCC2):c.1225G>A (p.Val409Ile)
NM_022132.5(MCCC2):c.1235A>C (p.Glu412Ala) rs371587906
NM_022132.5(MCCC2):c.1235A>G (p.Glu412Gly)
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.1433C>G (p.Ala478Gly) rs35068278
NM_022132.5(MCCC2):c.1572A>T (p.Ala524=) rs886060738
NM_022132.5(MCCC2):c.1574+5G>A
NM_022132.5(MCCC2):c.1583A>G (p.Asp528Gly)
NM_022132.5(MCCC2):c.1657A>G (p.Ile553Val) rs143156315
NM_022132.5(MCCC2):c.1690T>C (p.Ter564Gln) rs751970792
NM_022132.5(MCCC2):c.330C>T (p.Asp110=) rs201872484
NM_022132.5(MCCC2):c.355A>G (p.Ile119Val)
NM_022132.5(MCCC2):c.383+4A>G
NM_022132.5(MCCC2):c.433T>C (p.Tyr145His)
NM_022132.5(MCCC2):c.499T>C (p.Cys167Arg) rs119103222
NM_022132.5(MCCC2):c.58C>T (p.Pro20Ser)
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.675C>A (p.Ala225=) rs781610298
NM_022132.5(MCCC2):c.864G>A (p.Arg288=) rs368236133
NM_022132.5(MCCC2):c.914A>G (p.Glu305Gly)
NM_025136.3(OPA3):c.-47_-40delGCCCCGCC rs886054542
NM_025136.3(OPA3):c.-96A>G rs566870092
NM_025136.4(OPA3):c.*1018A>G
NM_025136.4(OPA3):c.*1052C>T
NM_025136.4(OPA3):c.*1063G>A
NM_025136.4(OPA3):c.*1070C>T
NM_025136.4(OPA3):c.*1076A>G rs886054533
NM_025136.4(OPA3):c.*1091C>G rs557691359
NM_025136.4(OPA3):c.*1095C>A rs148228876
NM_025136.4(OPA3):c.*1193A>G
NM_025136.4(OPA3):c.*1213C>T rs539298843
NM_025136.4(OPA3):c.*1214G>A
NM_025136.4(OPA3):c.*1238G>A rs187216413
NM_025136.4(OPA3):c.*1254A>C rs886054532
NM_025136.4(OPA3):c.*1462C>T
NM_025136.4(OPA3):c.*1478A>G rs886054531
NM_025136.4(OPA3):c.*1496C>T
NM_025136.4(OPA3):c.*1614C>T
NM_025136.4(OPA3):c.*1642A>G rs144894771
NM_025136.4(OPA3):c.*1693C>T
NM_025136.4(OPA3):c.*1761A>T
NM_025136.4(OPA3):c.*1799A>G rs886054530
NM_025136.4(OPA3):c.*1836C>T rs74717111
NM_025136.4(OPA3):c.*1863T>G rs769185702
NM_025136.4(OPA3):c.*2008C>T rs144432336
NM_025136.4(OPA3):c.*2041C>G
NM_025136.4(OPA3):c.*2089T>C rs886054529
NM_025136.4(OPA3):c.*2101A>T rs139606810
NM_025136.4(OPA3):c.*2188G>A
NM_025136.4(OPA3):c.*2198C>T
NM_025136.4(OPA3):c.*2490C>T rs11671670
NM_025136.4(OPA3):c.*2518A>G rs565012397
NM_025136.4(OPA3):c.*2545G>A rs886054528
NM_025136.4(OPA3):c.*2590G>T rs886054527
NM_025136.4(OPA3):c.*2620C>A
NM_025136.4(OPA3):c.*2662G>A
NM_025136.4(OPA3):c.*2702G>T rs886054526
NM_025136.4(OPA3):c.*2714C>T rs781539538
NM_025136.4(OPA3):c.*2726G>C
NM_025136.4(OPA3):c.*2859A>T
NM_025136.4(OPA3):c.*2896G>A rs190488484
NM_025136.4(OPA3):c.*2964T>C
NM_025136.4(OPA3):c.*302C>T rs886054540
NM_025136.4(OPA3):c.*3117C>T rs569595277
NM_025136.4(OPA3):c.*3128C>G
NM_025136.4(OPA3):c.*3156G>T
NM_025136.4(OPA3):c.*322A>G rs886054539
NM_025136.4(OPA3):c.*3245C>T
NM_025136.4(OPA3):c.*324_*325GT[1] rs571672143
NM_025136.4(OPA3):c.*3278C>T rs770317628
NM_025136.4(OPA3):c.*3295C>G
NM_025136.4(OPA3):c.*3350T>G
NM_025136.4(OPA3):c.*3358C>G
NM_025136.4(OPA3):c.*3360G>A rs545764728
NM_025136.4(OPA3):c.*3442A>G
NM_025136.4(OPA3):c.*3472G>A
NM_025136.4(OPA3):c.*3496C>G rs749084024
NM_025136.4(OPA3):c.*3570C>T
NM_025136.4(OPA3):c.*3581C>T rs576070088
NM_025136.4(OPA3):c.*3644C>T
NM_025136.4(OPA3):c.*3669G>T
NM_025136.4(OPA3):c.*3754C>T
NM_025136.4(OPA3):c.*3755G>A rs555830952
NM_025136.4(OPA3):c.*3804G>A
NM_025136.4(OPA3):c.*3845C>T rs886054525
NM_025136.4(OPA3):c.*3884G>A rs187028696
NM_025136.4(OPA3):c.*3891C>T rs752997579
NM_025136.4(OPA3):c.*398G>T rs183851663
NM_025136.4(OPA3):c.*4026del rs879119658
NM_025136.4(OPA3):c.*4026dup rs879119658
NM_025136.4(OPA3):c.*420A>G rs868102539
NM_025136.4(OPA3):c.*422C>T rs116977551
NM_025136.4(OPA3):c.*4233G>A
NM_025136.4(OPA3):c.*4241C>T
NM_025136.4(OPA3):c.*4372G>A
NM_025136.4(OPA3):c.*4419C>T rs886054523
NM_025136.4(OPA3):c.*4439C>T rs538388889
NM_025136.4(OPA3):c.*4464G>T rs886054522
NM_025136.4(OPA3):c.*4521G>A rs886054521
NM_025136.4(OPA3):c.*4585C>T rs886054520
NM_025136.4(OPA3):c.*4586G>A rs886054519
NM_025136.4(OPA3):c.*4618G>A
NM_025136.4(OPA3):c.*4696_*4699ATAA[6] rs58537694
NM_025136.4(OPA3):c.*4696_*4699ATAA[8] rs58537694
NM_025136.4(OPA3):c.*4696_*4699ATAA[9] rs58537694
NM_025136.4(OPA3):c.*4712del rs886054518
NM_025136.4(OPA3):c.*4763C>A
NM_025136.4(OPA3):c.*4771C>G
NM_025136.4(OPA3):c.*4773A>G
NM_025136.4(OPA3):c.*4846A>T
NM_025136.4(OPA3):c.*4853T>A rs886054516
NM_025136.4(OPA3):c.*4862_*4865del rs886054515
NM_025136.4(OPA3):c.*4919_*4921del rs886054514
NM_025136.4(OPA3):c.*4949G>A rs544881797
NM_025136.4(OPA3):c.*4954C>T rs146646433
NM_025136.4(OPA3):c.*4969C>G rs886054513
NM_025136.4(OPA3):c.*4975C>T
NM_025136.4(OPA3):c.*5013A>G
NM_025136.4(OPA3):c.*5045C>T
NM_025136.4(OPA3):c.*50_*52del rs886054541
NM_025136.4(OPA3):c.*5258A>G rs886054512
NM_025136.4(OPA3):c.*5277G>A
NM_025136.4(OPA3):c.*5357G>A rs549141863
NM_025136.4(OPA3):c.*540G>T
NM_025136.4(OPA3):c.*545G>T rs886054538
NM_025136.4(OPA3):c.*5496C>T rs886054511
NM_025136.4(OPA3):c.*5510G>A
NM_025136.4(OPA3):c.*5565C>T
NM_025136.4(OPA3):c.*5570C>T
NM_025136.4(OPA3):c.*5597C>T rs560019290
NM_025136.4(OPA3):c.*5644A>G
NM_025136.4(OPA3):c.*5660A>G
NM_025136.4(OPA3):c.*5730C>T
NM_025136.4(OPA3):c.*5739C>T rs375835737
NM_025136.4(OPA3):c.*5774G>C rs886054510
NM_025136.4(OPA3):c.*5774G>T rs886054510
NM_025136.4(OPA3):c.*5783G>A rs550679720
NM_025136.4(OPA3):c.*5873C>T rs886054509
NM_025136.4(OPA3):c.*5888C>T rs886054508
NM_025136.4(OPA3):c.*5923G>A
NM_025136.4(OPA3):c.*5944G>A rs190885103
NM_025136.4(OPA3):c.*6046G>A
NM_025136.4(OPA3):c.*6072A>G rs576104602
NM_025136.4(OPA3):c.*6101A>G
NM_025136.4(OPA3):c.*6124C>T
NM_025136.4(OPA3):c.*6125G>A rs780617440
NM_025136.4(OPA3):c.*6208C>T rs139798464
NM_025136.4(OPA3):c.*6278G>A rs886054507
NM_025136.4(OPA3):c.*6289A>G rs182293743
NM_025136.4(OPA3):c.*6361G>A
NM_025136.4(OPA3):c.*6436_*6437insG rs886054506
NM_025136.4(OPA3):c.*6442A>G rs76825983
NM_025136.4(OPA3):c.*6461C>T rs886054505
NM_025136.4(OPA3):c.*649C>T rs886054537
NM_025136.4(OPA3):c.*6554G>A
NM_025136.4(OPA3):c.*6570G>C rs773109015
NM_025136.4(OPA3):c.*6626G>A
NM_025136.4(OPA3):c.*6674T>C rs534603782
NM_025136.4(OPA3):c.*6688G>A rs181576269
NM_025136.4(OPA3):c.*6698G>T
NM_025136.4(OPA3):c.*6766C>T
NM_025136.4(OPA3):c.*6767G>A rs142898530
NM_025136.4(OPA3):c.*6773G>T rs886054504
NM_025136.4(OPA3):c.*677C>T rs560749495
NM_025136.4(OPA3):c.*6902G>A rs528812143
NM_025136.4(OPA3):c.*690G>T
NM_025136.4(OPA3):c.*698G>A
NM_025136.4(OPA3):c.*7018G>C
NM_025136.4(OPA3):c.*7072A>T
NM_025136.4(OPA3):c.*7096_*7100del rs565521231
NM_025136.4(OPA3):c.*713C>G rs143735864
NM_025136.4(OPA3):c.*7181G>A rs74253369
NM_025136.4(OPA3):c.*7183G>A
NM_025136.4(OPA3):c.*742A>T
NM_025136.4(OPA3):c.*761C>T
NM_025136.4(OPA3):c.*80G>T rs540023428
NM_025136.4(OPA3):c.*821A>T rs886054536
NM_025136.4(OPA3):c.*922G>T rs886054535
NM_025136.4(OPA3):c.*964G>A
NM_025136.4(OPA3):c.*986dup rs377547137
NM_025136.4(OPA3):c.123C>G (p.Ile41Met)
NM_025136.4(OPA3):c.444C>T (p.Ala148=) rs759536853
NM_025136.4(OPA3):c.94C>A (p.Arg32Ser)
NM_032601.4(MCEE):c.*64A>C
NM_032601.4(MCEE):c.102C>G (p.Pro34=) rs146573280
NM_032601.4(MCEE):c.136G>A (p.Gly46Ser) rs772033573
NM_032601.4(MCEE):c.164T>C (p.Val55Ala)
NM_032601.4(MCEE):c.235C>G (p.Leu79Val) rs369078225
NM_032601.4(MCEE):c.271C>A (p.Leu91Met) rs200681141
NM_032601.4(MCEE):c.312T>G (p.Arg104=) rs142838031
NM_032601.4(MCEE):c.352G>C (p.Gly118Arg)
NM_032601.4(MCEE):c.368T>A (p.Ile123Asn) rs886056277
NM_032601.4(MCEE):c.440A>G (p.Glu147Gly)
NM_032601.4(MCEE):c.520G>C (p.Glu174Gln) rs200334627
NM_032601.4(MCEE):c.66C>T (p.Pro22=)
NM_052845.4(MMAB):c.*1067C>T rs143292900
NM_052845.4(MMAB):c.*1088A>T rs142486697
NM_052845.4(MMAB):c.*1121C>T rs562046988
NM_052845.4(MMAB):c.*1400G>A
NM_052845.4(MMAB):c.*1428C>T rs757325398
NM_052845.4(MMAB):c.*1482C>T
NM_052845.4(MMAB):c.*1683G>A rs572832766
NM_052845.4(MMAB):c.*1685G>A rs117011771
NM_052845.4(MMAB):c.*1689C>T
NM_052845.4(MMAB):c.*1747A>G rs886048917
NM_052845.4(MMAB):c.*1988C>T
NM_052845.4(MMAB):c.*2023C>T rs546885397
NM_052845.4(MMAB):c.*2051C>T
NM_052845.4(MMAB):c.*2053C>T
NM_052845.4(MMAB):c.*2150A>G
NM_052845.4(MMAB):c.*2326C>G
NM_052845.4(MMAB):c.*2342G>A rs72650176
NM_052845.4(MMAB):c.*2392C>T
NM_052845.4(MMAB):c.*2503G>A rs886048916
NM_052845.4(MMAB):c.*2619A>T rs778528128
NM_052845.4(MMAB):c.*2636A>G rs748949434
NM_052845.4(MMAB):c.*2679G>C rs546327751
NM_052845.4(MMAB):c.*2736G>C
NM_052845.4(MMAB):c.*2739C>T
NM_052845.4(MMAB):c.*2740G>A rs139886832
NM_052845.4(MMAB):c.*2783G>A
NM_052845.4(MMAB):c.*2890C>T
NM_052845.4(MMAB):c.*2913C>T
NM_052845.4(MMAB):c.*2914G>A rs759971406
NM_052845.4(MMAB):c.*3019A>G rs78065254
NM_052845.4(MMAB):c.*301C>T
NM_052845.4(MMAB):c.*3027T>C
NM_052845.4(MMAB):c.*3043T>G
NM_052845.4(MMAB):c.*3074C>T
NM_052845.4(MMAB):c.*3142G>A
NM_052845.4(MMAB):c.*3152A>T rs886048915
NM_052845.4(MMAB):c.*3260G>A
NM_052845.4(MMAB):c.*3265A>G rs776804847
NM_052845.4(MMAB):c.*3295C>T
NM_052845.4(MMAB):c.*3296G>A
NM_052845.4(MMAB):c.*335G>A
NM_052845.4(MMAB):c.*348T>G
NM_052845.4(MMAB):c.*422T>C
NM_052845.4(MMAB):c.*424G>A
NM_052845.4(MMAB):c.*503G>A
NM_052845.4(MMAB):c.*509C>T rs886048923
NM_052845.4(MMAB):c.*554G>A rs562420933
NM_052845.4(MMAB):c.*588C>T
NM_052845.4(MMAB):c.*691A>C rs886048922
NM_052845.4(MMAB):c.*710C>T
NM_052845.4(MMAB):c.*716C>T rs886048921
NM_052845.4(MMAB):c.*815T>C rs776724872
NM_052845.4(MMAB):c.*961G>A rs541447661
NM_052845.4(MMAB):c.-11C>G
NM_052845.4(MMAB):c.-4G>C rs372195202
NM_052845.4(MMAB):c.150G>A (p.Ser50=) rs754357121
NM_052845.4(MMAB):c.158C>T (p.Pro53Leu)
NM_052845.4(MMAB):c.254C>T (p.Ala85Val)
NM_052845.4(MMAB):c.333C>T (p.Ala111=) rs769385276
NM_052845.4(MMAB):c.387G>A (p.Ala129=) rs549807022
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.401C>T (p.Ser134Leu)
NM_052845.4(MMAB):c.444G>A (p.Gly148=) rs117269384
NM_052845.4(MMAB):c.522G>A (p.Ser174=) rs545625368
NM_052845.4(MMAB):c.542C>T (p.Ala181Val) rs764164596
NM_052845.4(MMAB):c.561C>T (p.Ala187=) rs370773720
NM_052845.4(MMAB):c.584+15G>A rs750655720
NM_052845.4(MMAB):c.593C>T (p.Pro198Leu) rs886048927
NM_052845.4(MMAB):c.644+7G>A rs147637814
NM_052845.4(MMAB):c.654C>G (p.Asp218Glu)
NM_052845.4(MMAB):c.678T>C (p.Tyr226=) rs111678627
NM_052845.4(MMAB):c.68G>A (p.Gly23Asp)
NM_052845.4(MMAB):c.732G>A (p.Ser244=) rs186864802
NM_052845.4(MMAB):c.7G>A (p.Val3Met)
NM_145261.4(DNAJC19):c.*190_*193ATTA[1] rs886058203
NM_145261.4(DNAJC19):c.*488G>C rs576646391
NM_145261.4(DNAJC19):c.*528_*529GT[9] rs148074891
NM_172250.3(MMAA):c.*1149C>G
NM_172250.3(MMAA):c.*1221A>G
NM_172250.3(MMAA):c.*1227A>T rs375194713
NM_172250.3(MMAA):c.*1273C>T
NM_172250.3(MMAA):c.*1284G>A rs564976817
NM_172250.3(MMAA):c.*1425C>T
NM_172250.3(MMAA):c.*1510C>T
NM_172250.3(MMAA):c.*152A>G
NM_172250.3(MMAA):c.*1558C>G
NM_172250.3(MMAA):c.*1584A>G rs530538534
NM_172250.3(MMAA):c.*1610C>T rs185925141
NM_172250.3(MMAA):c.*1779T>C rs886059097
NM_172250.3(MMAA):c.*177A>G rs572996882
NM_172250.3(MMAA):c.*1819C>G
NM_172250.3(MMAA):c.*188A>G rs886059091
NM_172250.3(MMAA):c.*190C>T
NM_172250.3(MMAA):c.*1918G>A rs755382235
NM_172250.3(MMAA):c.*1924T>C rs886059100
NM_172250.3(MMAA):c.*192G>A rs188845060
NM_172250.3(MMAA):c.*1940T>C
NM_172250.3(MMAA):c.*1966C>T
NM_172250.3(MMAA):c.*1988A>T rs141116337
NM_172250.3(MMAA):c.*2139A>G
NM_172250.3(MMAA):c.*229T>C rs886059092
NM_172250.3(MMAA):c.*2343A>G rs886059103
NM_172250.3(MMAA):c.*2378A>G rs886059104
NM_172250.3(MMAA):c.*2444C>G
NM_172250.3(MMAA):c.*2445A>C rs886059105
NM_172250.3(MMAA):c.*2448T>C
NM_172250.3(MMAA):c.*2471G>A rs886059106
NM_172250.3(MMAA):c.*2479G>A rs886059107
NM_172250.3(MMAA):c.*2479G>T
NM_172250.3(MMAA):c.*2562C>T
NM_172250.3(MMAA):c.*2627A>G rs886059109
NM_172250.3(MMAA):c.*2645C>T
NM_172250.3(MMAA):c.*2646G>A
NM_172250.3(MMAA):c.*2807C>T rs7675466
NM_172250.3(MMAA):c.*2808G>A rs543019315
NM_172250.3(MMAA):c.*2903C>T rs886059110
NM_172250.3(MMAA):c.*3035A>C rs576544645
NM_172250.3(MMAA):c.*3087A>G
NM_172250.3(MMAA):c.*3125C>T rs886059111
NM_172250.3(MMAA):c.*3213C>T
NM_172250.3(MMAA):c.*3222T>C rs886059112
NM_172250.3(MMAA):c.*3325C>T
NM_172250.3(MMAA):c.*3385C>T
NM_172250.3(MMAA):c.*342A>G rs886059093
NM_172250.3(MMAA):c.*353C>A
NM_172250.3(MMAA):c.*3703T>C
NM_172250.3(MMAA):c.*3797A>G
NM_172250.3(MMAA):c.*3801A>G rs886059116
NM_172250.3(MMAA):c.*3880G>A
NM_172250.3(MMAA):c.*3934C>G
NM_172250.3(MMAA):c.*4044T>C
NM_172250.3(MMAA):c.*4103G>A rs191381122
NM_172250.3(MMAA):c.*4200G>T
NM_172250.3(MMAA):c.*4228T>C rs533826043
NM_172250.3(MMAA):c.*4324G>A
NM_172250.3(MMAA):c.*4326A>T
NM_172250.3(MMAA):c.*4457A>G
NM_172250.3(MMAA):c.*4504C>A
NM_172250.3(MMAA):c.*4533C>T rs114762906
NM_172250.3(MMAA):c.*4539T>G
NM_172250.3(MMAA):c.*540A>T rs886059094
NM_172250.3(MMAA):c.*541A>G rs114729477
NM_172250.3(MMAA):c.*581G>T
NM_172250.3(MMAA):c.*600G>A rs112882351
NM_172250.3(MMAA):c.*611A>C
NM_172250.3(MMAA):c.*661C>T
NM_172250.3(MMAA):c.*67G>A rs886059090
NM_172250.3(MMAA):c.*703C>T rs548243828
NM_172250.3(MMAA):c.*890G>A rs771012374
NM_172250.3(MMAA):c.*942A>G rs886059096
NM_172250.3(MMAA):c.*97G>C
NM_172250.3(MMAA):c.-14C>T
NM_172250.3(MMAA):c.-66+10G>C rs546775043
NM_172250.3(MMAA):c.-68C>A
NM_172250.3(MMAA):c.-68C>T rs886059087
NM_172250.3(MMAA):c.-69G>T rs886059086
NM_172250.3(MMAA):c.-71G>C rs992491091
NM_172250.3(MMAA):c.1000G>A (p.Gly334Arg)
NM_172250.3(MMAA):c.1003A>T (p.Ile335Phe) rs199749473
NM_172250.3(MMAA):c.102C>T (p.Leu34=) rs146372922
NM_172250.3(MMAA):c.1078C>T (p.Arg360Trp) rs6812252
NM_172250.3(MMAA):c.1099A>G (p.Met367Val)
NM_172250.3(MMAA):c.1121G>A (p.Ser374Asn) rs778178659
NM_172250.3(MMAA):c.1177G>A (p.Glu393Lys) rs144313458
NM_172250.3(MMAA):c.1193T>C (p.Ile398Thr) rs777459994
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.383T>C (p.Leu128Pro) rs560188002
NM_172250.3(MMAA):c.400G>C (p.Glu134Gln)
NM_172250.3(MMAA):c.440-6C>T
NM_172250.3(MMAA):c.630A>G (p.Pro210=) rs374347679
NM_172250.3(MMAA):c.718C>G (p.Leu240Val)
NM_172250.3(MMAA):c.862G>A (p.Val288Ile) rs886059089
NM_172250.3(MMAA):c.904A>T (p.Ile302Leu) rs369128670
NM_172250.3(MMAA):c.912G>A (p.Ala304=) rs371769807
NM_172250.3(MMAA):c.966A>G (p.Pro322=) rs150692463
NM_172250.3(MMAA):c.977G>A (p.Arg326His) rs201547892

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