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: 2694
Download table as spreadsheet
HGVS dbSNP
NC_000001.11:g.(?_23825336)_(23825435_?)del
NC_000001.11:g.(?_45507336)_(45509235_?)dup
NC_000006.11:g.(?_49407899)_(49427199_?)dup
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
NC_000011.9:g.(?_72083949)_(72084078_?)del
NC_000013.10:g.(?_100861566)_(100861737_?)del
NC_000013.10:g.(?_101077867)_(101182440_?)dup
NC_000013.11:g.(?_100425613)_(100425751_?)del
NC_000016.10:g.(?_89100662)_(89154227_?)dup
NC_000016.9:g.(?_89167070)_(89187341_?)dup
NC_000019.10:g.39480831G>A rs1600735654
NC_000021.8:g.(?_37133458)_(38311203_?)dup
NC_000021.9:g.(?_36930231)_(36930453_?)dup
NC_000023.10:g.(?_153640161)_(153649363_?)dup
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_000019.3(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.-5C>T
NM_000019.4(ACAT1):c.1003A>G (p.Met335Val)
NM_000019.4(ACAT1):c.1006-10A>G rs886047596
NM_000019.4(ACAT1):c.1105A>G (p.Ile369Val) rs1591374695
NM_000019.4(ACAT1):c.1136G>T (p.Gly379Val) rs120074143
NM_000019.4(ACAT1):c.1167G>A (p.Met389Ile) rs377295639
NM_000019.4(ACAT1):c.1191T>C (p.His397=)
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.1200T>C (p.His400=)
NM_000019.4(ACAT1):c.121-3C>G rs1591361919
NM_000019.4(ACAT1):c.1217A>G (p.Glu406Gly) rs147872303
NM_000019.4(ACAT1):c.1221C>T (p.Tyr407=) rs367713788
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.1253_1255dup (p.Gly418dup)
NM_000019.4(ACAT1):c.1277A>C (p.Lys426Thr)
NM_000019.4(ACAT1):c.1279C>A (p.Leu427Met)
NM_000019.4(ACAT1):c.140C>T (p.Ala47Val)
NM_000019.4(ACAT1):c.155T>C (p.Ile52Thr)
NM_000019.4(ACAT1):c.15G>C (p.Ala5=) rs886047594
NM_000019.4(ACAT1):c.163_167delinsAA (p.Phe55_Leu56delinsLys) rs1591361995
NM_000019.4(ACAT1):c.171C>A (p.Gly57=)
NM_000019.4(ACAT1):c.239-7A>G
NM_000019.4(ACAT1):c.239-8T>A rs202030208
NM_000019.4(ACAT1):c.248AAG[2] (p.Glu85del) rs866364527
NM_000019.4(ACAT1):c.274G>A (p.Gly92Ser) rs1591362402
NM_000019.4(ACAT1):c.291A>T (p.Gly97=) rs746216662
NM_000019.4(ACAT1):c.299G>A (p.Gly100Glu) rs1591362472
NM_000019.4(ACAT1):c.29G>A (p.Ser10Asn) rs886047595
NM_000019.4(ACAT1):c.301C>A (p.Gln101Lys) rs1591362483
NM_000019.4(ACAT1):c.34G>A (p.Ala12Thr)
NM_000019.4(ACAT1):c.378T>C (p.Cys126=)
NM_000019.4(ACAT1):c.418C>T (p.Leu140Phe)
NM_000019.4(ACAT1):c.433C>G (p.Gln145Glu) rs120074148
NM_000019.4(ACAT1):c.436-4G>C rs3741050
NM_000019.4(ACAT1):c.436G>A (p.Asp146Asn)
NM_000019.4(ACAT1):c.460G>A (p.Glu154Lys) rs1198149157
NM_000019.4(ACAT1):c.483T>C (p.Tyr161=) rs1591367485
NM_000019.4(ACAT1):c.532T>C (p.Leu178=) rs370063325
NM_000019.4(ACAT1):c.534G>T (p.Leu178Phe) rs1320114846
NM_000019.4(ACAT1):c.575A>G (p.His192Arg)
NM_000019.4(ACAT1):c.5C>T (p.Ala2Val)
NM_000019.4(ACAT1):c.602C>T (p.Ala201Val) rs1591368724
NM_000019.4(ACAT1):c.622C>G (p.Arg208Gly) rs532190594
NM_000019.4(ACAT1):c.637G>A (p.Ala213Thr)
NM_000019.4(ACAT1):c.664A>C (p.Ser222Arg) rs1591368826
NM_000019.4(ACAT1):c.709C>A (p.Pro237Thr)
NM_000019.4(ACAT1):c.71A>C (p.Gln24Pro)
NM_000019.4(ACAT1):c.721A>G (p.Thr241Ala)
NM_000019.4(ACAT1):c.754G>A (p.Glu252Lys)
NM_000019.4(ACAT1):c.760G>A (p.Glu254Lys) rs1591370241
NM_000019.4(ACAT1):c.764A>C (p.Glu255Ala) rs1591370252
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.772C>T (p.Arg258Cys) rs753816946
NM_000019.4(ACAT1):c.816G>T (p.Gln272His)
NM_000019.4(ACAT1):c.829A>C (p.Thr277Pro) rs1591371019
NM_000019.4(ACAT1):c.851G>A (p.Ser284Asn) rs1591371045
NM_000019.4(ACAT1):c.854C>T (p.Thr285Ile) rs1239221388
NM_000019.4(ACAT1):c.858G>A (p.Leu286=)
NM_000019.4(ACAT1):c.890C>A (p.Thr297Lys) rs886041122
NM_000019.4(ACAT1):c.891G>A (p.Thr297=)
NM_000019.4(ACAT1):c.921A>G (p.Thr307=)
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.947_949dup (p.Ala316dup) rs1591372596
NM_000019.4(ACAT1):c.967A>G (p.Ile323Val) rs1282394804
NM_000019.4(ACAT1):c.979A>G (p.Ile327Val) rs150038447
NM_000019.4(ACAT1):c.983C>T (p.Ala328Val) rs1057517702
NM_000019.4(ACAT1):c.990A>G (p.Val330=)
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.110-17= rs62617809
NM_000116.5(TAFAZZIN):c.13G>T (p.Val5Leu) rs397515737
NM_000116.5(TAFAZZIN):c.154G>A (p.Glu52Lys) rs794729166
NM_000116.5(TAFAZZIN):c.184C>T (p.Pro62Ser)
NM_000116.5(TAFAZZIN):c.190A>C (p.Ile64Leu)
NM_000116.5(TAFAZZIN):c.205C>A (p.His69Asn)
NM_000116.5(TAFAZZIN):c.210G>C (p.Gln70His)
NM_000116.5(TAFAZZIN):c.212C>T (p.Ser71Phe)
NM_000116.5(TAFAZZIN):c.227C>T (p.Pro76Leu)
NM_000116.5(TAFAZZIN):c.238+6C>T rs781786197
NM_000116.5(TAFAZZIN):c.238G>A (p.Gly80Arg) rs1557191170
NM_000116.5(TAFAZZIN):c.253C>T (p.Arg85Cys)
NM_000116.5(TAFAZZIN):c.27C>G (p.Phe9Leu)
NM_000116.5(TAFAZZIN):c.284+4A>T rs1603377638
NM_000116.5(TAFAZZIN):c.299C>T (p.Ala100Val) rs1569552722
NM_000116.5(TAFAZZIN):c.29C>G (p.Pro10Arg) rs781941217
NM_000116.5(TAFAZZIN):c.331C>T (p.His111Tyr) rs200405157
NM_000116.5(TAFAZZIN):c.334T>C (p.Phe112Leu)
NM_000116.5(TAFAZZIN):c.351G>A (p.Lys117=)
NM_000116.5(TAFAZZIN):c.380T>G (p.Phe127Cys)
NM_000116.5(TAFAZZIN):c.403A>G (p.Lys135Glu)
NM_000116.5(TAFAZZIN):c.409G>A (p.Val137Ile)
NM_000116.5(TAFAZZIN):c.416A>T (p.Asp139Val) rs1603378339
NM_000116.5(TAFAZZIN):c.419C>T (p.Thr140Ile) rs727503454
NM_000116.5(TAFAZZIN):c.425_428del (p.Arg142fs) rs782253789
NM_000116.5(TAFAZZIN):c.430A>G (p.Met144Val)
NM_000116.5(TAFAZZIN):c.437G>T (p.Gly146Val)
NM_000116.5(TAFAZZIN):c.460+1G>A rs878853655
NM_000116.5(TAFAZZIN):c.460+5G>A
NM_000116.5(TAFAZZIN):c.460G>A (p.Gly154Arg)
NM_000116.5(TAFAZZIN):c.469G>A (p.Val157Ile) rs782173851
NM_000116.5(TAFAZZIN):c.47C>G (p.Thr16Ser)
NM_000116.5(TAFAZZIN):c.49T>C (p.Trp17Arg)
NM_000116.5(TAFAZZIN):c.504G>A (p.Lys168=) rs1057515818
NM_000116.5(TAFAZZIN):c.51G>T (p.Trp17Cys) rs1603376560
NM_000116.5(TAFAZZIN):c.535C>G (p.Pro179Ala) rs397515744
NM_000116.5(TAFAZZIN):c.541+5G>A
NM_000116.5(TAFAZZIN):c.542G>A (p.Gly181Glu)
NM_000116.5(TAFAZZIN):c.562G>A (p.Glu188Lys) rs375663114
NM_000116.5(TAFAZZIN):c.576C>G (p.Phe192Leu) rs1557193924
NM_000116.5(TAFAZZIN):c.583G>A (p.Gly195Arg) rs878853656
NM_000116.5(TAFAZZIN):c.584-9C>A
NM_000116.5(TAFAZZIN):c.593G>A (p.Arg198His)
NM_000116.5(TAFAZZIN):c.606G>C (p.Glu202Asp) rs781893396
NM_000116.5(TAFAZZIN):c.647-6C>T
NM_000116.5(TAFAZZIN):c.647G>A (p.Gly216Glu) rs727504431
NM_000116.5(TAFAZZIN):c.657C>G (p.Asp219Glu)
NM_000116.5(TAFAZZIN):c.674C>T (p.Pro225Leu) rs375151766
NM_000116.5(TAFAZZIN):c.689G>A (p.Arg230His) rs782655300
NM_000116.5(TAFAZZIN):c.751C>G (p.Arg251Gly)
NM_000116.5(TAFAZZIN):c.751C>T (p.Arg251Trp) rs372689133
NM_000116.5(TAFAZZIN):c.754_763del (p.Leu252fs) rs1557194381
NM_000116.5(TAFAZZIN):c.757C>T (p.Arg253Trp)
NM_000116.5(TAFAZZIN):c.758G>A (p.Arg253Gln) rs782653725
NM_000116.5(TAFAZZIN):c.763G>A (p.Glu255Lys) rs782498694
NM_000116.5(TAFAZZIN):c.768C>G (p.Asn256Lys) rs926124671
NM_000116.5(TAFAZZIN):c.773C>T (p.Ser258Leu)
NM_000116.5(TAFAZZIN):c.777+3G>A
NM_000116.5(TAFAZZIN):c.777+6T>C rs782175712
NM_000116.5(TAFAZZIN):c.779T>G (p.Val260Gly) rs782746355
NM_000116.5(TAFAZZIN):c.790A>G (p.Lys264Glu) rs1557194488
NM_000116.5(TAFAZZIN):c.811C>T (p.Gln271Ter) rs1298362744
NM_000116.5(TAFAZZIN):c.849G>C (p.Gln283His)
NM_000116.5(TAFAZZIN):c.89C>T (p.Thr30Ile)
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.151G>A (p.Val51Ile)
NM_000191.3(HMGCL):c.173A>G (p.Lys58Arg)
NM_000191.3(HMGCL):c.184A>G (p.Met62Val)
NM_000191.3(HMGCL):c.208G>C (p.Val70Leu) rs121964996
NM_000191.3(HMGCL):c.218C>A (p.Thr73Asn) rs1570652345
NM_000191.3(HMGCL):c.244G>A (p.Val82Ile) rs538620811
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.386C>G (p.Ala129Gly)
NM_000191.3(HMGCL):c.392C>T (p.Ser131Leu) rs1570650181
NM_000191.3(HMGCL):c.404C>T (p.Thr135Ile)
NM_000191.3(HMGCL):c.409A>G (p.Lys137Glu)
NM_000191.3(HMGCL):c.419A>G (p.Asn140Ser)
NM_000191.3(HMGCL):c.437G>A (p.Ser146Asn)
NM_000191.3(HMGCL):c.454G>A (p.Ala152Thr) rs146306707
NM_000191.3(HMGCL):c.470C>T (p.Ala157Val) rs147752765
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.501C>T (p.Tyr167=) rs200189529
NM_000191.3(HMGCL):c.502G>A (p.Val168Ile) rs759288306
NM_000191.3(HMGCL):c.528T>C (p.Tyr176=) rs112508527
NM_000191.3(HMGCL):c.56G>C (p.Arg19Pro)
NM_000191.3(HMGCL):c.593A>G (p.Tyr198Cys)
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.614C>G (p.Thr205Ser)
NM_000191.3(HMGCL):c.624G>A (p.Val208=) rs747724373
NM_000191.3(HMGCL):c.629C>T (p.Thr210Ile) rs1570645382
NM_000191.3(HMGCL):c.630C>T (p.Thr210=) rs886046313
NM_000191.3(HMGCL):c.649A>G (p.Met217Val)
NM_000191.3(HMGCL):c.651G>T (p.Met217Ile)
NM_000191.3(HMGCL):c.678_686dup (p.Ala229_Ala231dup) rs1553131921
NM_000191.3(HMGCL):c.704A>G (p.His235Arg)
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.751-10_751-9del
NM_000191.3(HMGCL):c.751-3T>C
NM_000191.3(HMGCL):c.765C>T (p.Val255=)
NM_000191.3(HMGCL):c.766G>A (p.Val256Met)
NM_000191.3(HMGCL):c.76A>G (p.Met26Val)
NM_000191.3(HMGCL):c.76A>T (p.Met26Leu)
NM_000191.3(HMGCL):c.787C>A (p.Leu263Ile)
NM_000191.3(HMGCL):c.796T>C (p.Cys266Arg) rs757884073
NM_000191.3(HMGCL):c.800C>A (p.Pro267His) rs750347526
NM_000191.3(HMGCL):c.814G>T (p.Ala272Ser)
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.89C>T (p.Pro30Leu)
NM_000191.3(HMGCL):c.8C>T (p.Ala3Val)
NM_000191.3(HMGCL):c.933C>G (p.Asn311Lys)
NM_000191.3(HMGCL):c.945C>G (p.Ser315Arg) rs1557484629
NM_000191.3(HMGCL):c.94C>T (p.Arg32Trp)
NM_000191.3(HMGCL):c.950A>G (p.Lys317Arg)
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.*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.-35G>T rs483352795
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.1011T>A (p.Phe337Leu) rs1581831934
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.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.1261G>A (p.Val421Met)
NM_000255.4(MMUT):c.1315T>G (p.Tyr439Asp) rs1581829908
NM_000255.4(MMUT):c.1324G>C (p.Ala442Pro) rs1554159871
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.1417G>T (p.Ala473Ser) rs188766510
NM_000255.4(MMUT):c.1421G>A (p.Arg474Gln) rs368746965
NM_000255.4(MMUT):c.1429G>A (p.Ala477Thr) rs1581828004
NM_000255.4(MMUT):c.1435A>G (p.Ile479Val)
NM_000255.4(MMUT):c.1465G>A (p.Val489Ile)
NM_000255.4(MMUT):c.1501G>C (p.Glu501Gln)
NM_000255.4(MMUT):c.1515T>C (p.Ile505=) rs772936850
NM_000255.4(MMUT):c.1519A>G (p.Asn507Asp)
NM_000255.4(MMUT):c.1532G>A (p.Arg511Gln)
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.1659G>A (p.Val553=)
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.168A>G (p.Pro56=)
NM_000255.4(MMUT):c.1762C>T (p.Arg588Cys) rs140727018
NM_000255.4(MMUT):c.1763G>T (p.Arg588Leu)
NM_000255.4(MMUT):c.1777G>C (p.Glu593Gln) rs148285323
NM_000255.4(MMUT):c.1790T>G (p.Ile597Arg) rs1554158951
NM_000255.4(MMUT):c.1808+15T>C rs369131814
NM_000255.4(MMUT):c.1809G>T (p.Arg603Ser)
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) rs201536536
NM_000255.4(MMUT):c.188C>T (p.Thr63Ile)
NM_000255.4(MMUT):c.189C>A (p.Thr63=) rs777167901
NM_000255.4(MMUT):c.191C>T (p.Pro64Leu) rs575038087
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.2196_2197insCGGCA (p.Val733fs)
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.235A>G (p.Met79Val)
NM_000255.4(MMUT):c.241T>A (p.Leu81Ile)
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.296T>C (p.Met99Thr)
NM_000255.4(MMUT):c.38C>T (p.Pro13Leu) rs1057518979
NM_000255.4(MMUT):c.393G>A (p.Gln131=) rs145682249
NM_000255.4(MMUT):c.395A>T (p.Gln132Leu) rs766605891
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.499G>A (p.Val167Met)
NM_000255.4(MMUT):c.556A>G (p.Met186Val) rs148331800
NM_000255.4(MMUT):c.566A>G (p.Asn189Ser) rs200908035
NM_000255.4(MMUT):c.572C>T (p.Ala191Val)
NM_000255.4(MMUT):c.598A>G (p.Ile200Val)
NM_000255.4(MMUT):c.647C>A (p.Thr216Asn) rs1554160650
NM_000255.4(MMUT):c.656A>G (p.Asn219Ser) rs950211877
NM_000255.4(MMUT):c.669_674dup (p.Phe225_Met226insLeuGlu) rs1554160637
NM_000255.4(MMUT):c.694_700delinsCTTTTTT (p.Ile232_Pro234delinsLeuPheSer) rs1581834738
NM_000255.4(MMUT):c.836A>G (p.Tyr279Cys) rs2228282
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_000255.4(MMUT):c.911G>A (p.Arg304Lys)
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.*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.-4A>C
NM_000282.4(PCCA):c.-5C>T rs886049926
NM_000282.4(PCCA):c.1002C>T (p.Thr334=) rs150106872
NM_000282.4(PCCA):c.1007A>G (p.Glu336Gly)
NM_000282.4(PCCA):c.1047A>T (p.Glu349Asp)
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.1175A>G (p.Asn392Ser)
NM_000282.4(PCCA):c.1193G>C (p.Cys398Ser) rs149293297
NM_000282.4(PCCA):c.1195C>T (p.Arg399Trp) rs1234167788
NM_000282.4(PCCA):c.120T>C (p.Tyr40=)
NM_000282.4(PCCA):c.1214C>A (p.Pro405His)
NM_000282.4(PCCA):c.1236A>G (p.Pro412=) rs41281120
NM_000282.4(PCCA):c.1275T>G (p.His425Gln)
NM_000282.4(PCCA):c.1285-1417T>C
NM_000282.4(PCCA):c.1342A>G (p.Met448Val) rs767060690
NM_000282.4(PCCA):c.1383G>A (p.Glu461=)
NM_000282.4(PCCA):c.1404T>G (p.Asp468Glu)
NM_000282.4(PCCA):c.1418A>G (p.Tyr473Cys)
NM_000282.4(PCCA):c.1430G>T (p.Gly477Val) rs776355907
NM_000282.4(PCCA):c.1445T>C (p.Ile482Thr)
NM_000282.4(PCCA):c.1519G>A (p.Val507Met)
NM_000282.4(PCCA):c.1558A>T (p.Ser520Cys) rs112237881
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.1651G>A (p.Val551Ile)
NM_000282.4(PCCA):c.1651G>T (p.Val551Phe) rs61749895
NM_000282.4(PCCA):c.1676G>T (p.Trp559Leu) rs118169528
NM_000282.4(PCCA):c.1702A>G (p.Lys568Glu)
NM_000282.4(PCCA):c.1746G>A (p.Ser582=) rs192171304
NM_000282.4(PCCA):c.1760G>C (p.Gly587Ala)
NM_000282.4(PCCA):c.177T>A (p.Asn59Lys)
NM_000282.4(PCCA):c.1817G>C (p.Ser606Thr)
NM_000282.4(PCCA):c.1819G>T (p.Val607Phe)
NM_000282.4(PCCA):c.183+4_183+7del rs1555342581
NM_000282.4(PCCA):c.1850T>C (p.Leu617Pro) rs563417983
NM_000282.4(PCCA):c.1884G>A (p.Gln628=) rs552141237
NM_000282.4(PCCA):c.1886T>G (p.Phe629Cys)
NM_000282.4(PCCA):c.1891G>A (p.Gly631Ser)
NM_000282.4(PCCA):c.1896A>G (p.Thr632=) rs61760965
NM_000282.4(PCCA):c.1919C>G (p.Thr640Ser) rs1594099709
NM_000282.4(PCCA):c.1929C>T (p.Ala643=) rs772945583
NM_000282.4(PCCA):c.1933G>A (p.Glu645Lys)
NM_000282.4(PCCA):c.1953G>A (p.Leu651=)
NM_000282.4(PCCA):c.1987C>T (p.Arg663Cys)
NM_000282.4(PCCA):c.1997T>A (p.Met666Lys) rs999241357
NM_000282.4(PCCA):c.2017G>C (p.Val673Leu) rs142646074
NM_000282.4(PCCA):c.202G>A (p.Val68Ile) rs768750176
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.2040+9TG[3]
NM_000282.4(PCCA):c.2040G>A (p.Ala680=) rs369982920
NM_000282.4(PCCA):c.2055A>G (p.Gln685=) rs147568036
NM_000282.4(PCCA):c.2082A>T (p.Lys694Asn)
NM_000282.4(PCCA):c.2101G>C (p.Ala701Pro)
NM_000282.4(PCCA):c.2113G>T (p.Gly705Cys)
NM_000282.4(PCCA):c.2129_2130del (p.Val710fs) rs1317003529
NM_000282.4(PCCA):c.2133_2135del (p.Cys712del) rs1316778844
NM_000282.4(PCCA):c.2155G>A (p.Gly719Arg)
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.231+15C>T rs202049874
NM_000282.4(PCCA):c.287T>C (p.Val96Ala)
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.346C>G (p.Pro116Ala)
NM_000282.4(PCCA):c.36C>T (p.Val12=) rs375516917
NM_000282.4(PCCA):c.370A>G (p.Met124Val)
NM_000282.4(PCCA):c.415G>A (p.Val139Ile)
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.484G>A (p.Val162Ile)
NM_000282.4(PCCA):c.490A>G (p.Ile164Val) rs539693612
NM_000282.4(PCCA):c.522G>A (p.Met174Ile) rs780406346
NM_000282.4(PCCA):c.54G>A (p.Gly18=) rs1373903905
NM_000282.4(PCCA):c.551C>G (p.Ala184Gly)
NM_000282.4(PCCA):c.590G>C (p.Gly197Ala) rs766245108
NM_000282.4(PCCA):c.608AAG[1] (p.Glu204del) rs750672608
NM_000282.4(PCCA):c.615dup (p.Val206fs) rs1566767338
NM_000282.4(PCCA):c.638-5G>A
NM_000282.4(PCCA):c.649A>G (p.Met217Val)
NM_000282.4(PCCA):c.659C>A (p.Ala220Asp) rs1555396108
NM_000282.4(PCCA):c.660C>T (p.Ala220=) rs145826296
NM_000282.4(PCCA):c.688C>T (p.Arg230Cys) rs778530330
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.782A>G (p.Glu261Gly) rs1169861687
NM_000282.4(PCCA):c.802C>T (p.Arg268Cys) rs774738181
NM_000282.4(PCCA):c.803G>A (p.Arg268His) rs368047060
NM_000282.4(PCCA):c.809T>C (p.Ile270Thr)
NM_000282.4(PCCA):c.819+9A>G rs372739944
NM_000282.4(PCCA):c.825A>G (p.Leu275=) rs376560248
NM_000282.4(PCCA):c.828T>C (p.Gly276=) rs143838146
NM_000282.4(PCCA):c.832A>G (p.Lys278Glu) rs1595032543
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.904G>C (p.Glu302Gln)
NM_000282.4(PCCA):c.914+8T>A rs543352333
NM_000282.4(PCCA):c.915-8A>G
NM_000282.4(PCCA):c.915C>G (p.Ser305Arg) rs768758704
NM_000282.4(PCCA):c.929C>G (p.Ala310Gly) rs146927771
NM_000282.4(PCCA):c.929C>T (p.Ala310Val) rs146927771
NM_000282.4(PCCA):c.933G>C (p.Glu311Asp)
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_000282.4(PCCA):c.999G>A (p.Gly333=)
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.1015A>G (p.Asn339Asp)
NM_000532.5(PCCB):c.1087T>C (p.Ser363Pro)
NM_000532.5(PCCB):c.1124C>T (p.Ala375Val)
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.1132G>T (p.Val378Phe)
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.115A>G (p.Ile39Val)
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.1215C>T (p.Tyr405=) rs191375566
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.1253C>G (p.Ala418Gly)
NM_000532.5(PCCB):c.1299G>C (p.Lys433Asn)
NM_000532.5(PCCB):c.12_26del (p.Leu5_Ala9del) rs1553773148
NM_000532.5(PCCB):c.1352C>T (p.Thr451Ile) rs145135400
NM_000532.5(PCCB):c.1370C>T (p.Thr457Ile)
NM_000532.5(PCCB):c.1372G>A (p.Ala458Thr) rs542389615
NM_000532.5(PCCB):c.1398+3G>A
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.1456T>C (p.Tyr486His)
NM_000532.5(PCCB):c.1481T>C (p.Phe494Ser)
NM_000532.5(PCCB):c.1482C>G (p.Phe494Leu)
NM_000532.5(PCCB):c.1503del (p.Phe501fs) rs1553785139
NM_000532.5(PCCB):c.1514T>C (p.Ile505Thr)
NM_000532.5(PCCB):c.1520A>G (p.Gln507Arg) rs886058020
NM_000532.5(PCCB):c.1524TTC[1] (p.Ser510del) rs1553785152
NM_000532.5(PCCB):c.1535G>A (p.Arg512His)
NM_000532.5(PCCB):c.1541G>A (p.Arg514Gln) rs577625696
NM_000532.5(PCCB):c.1555C>G (p.Leu519Val)
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.163A>T (p.Ile55Phe)
NM_000532.5(PCCB):c.167A>G (p.Asp56Gly)
NM_000532.5(PCCB):c.16C>T (p.Arg6Trp)
NM_000532.5(PCCB):c.180G>A (p.Lys60=) rs140636870
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.23C>T (p.Ala8Val)
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.306T>G (p.Phe102Leu)
NM_000532.5(PCCB):c.319G>A (p.Val107Met) rs1553774114
NM_000532.5(PCCB):c.332G>A (p.Arg111Gln)
NM_000532.5(PCCB):c.338G>A (p.Arg113Gln) rs138246328
NM_000532.5(PCCB):c.35C>A (p.Ala12Glu)
NM_000532.5(PCCB):c.368G>T (p.Ser123Ile)
NM_000532.5(PCCB):c.373-1243G>A rs1184391176
NM_000532.5(PCCB):c.373-1246G>A rs996480567
NM_000532.5(PCCB):c.38G>A (p.Arg13Lys)
NM_000532.5(PCCB):c.429+7G>A rs201986472
NM_000532.5(PCCB):c.449C>T (p.Thr150Met)
NM_000532.5(PCCB):c.45C>T (p.Ser15=) rs754664563
NM_000532.5(PCCB):c.460C>T (p.Pro154Ser)
NM_000532.5(PCCB):c.467T>C (p.Ile156Thr) rs1559998737
NM_000532.5(PCCB):c.46G>T (p.Val16Phe) rs780842004
NM_000532.5(PCCB):c.484G>T (p.Gly162Trp) rs754752068
NM_000532.5(PCCB):c.49C>A (p.Leu17Met) rs200185747
NM_000532.5(PCCB):c.543G>C (p.Leu181=) rs777868289
NM_000532.5(PCCB):c.544-5G>C rs372351800
NM_000532.5(PCCB):c.553del (p.Thr185fs) rs886058018
NM_000532.5(PCCB):c.554C>G (p.Thr185Arg)
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.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.613G>A (p.Val205Ile)
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.654+14G>T
NM_000532.5(PCCB):c.654+3A>C rs199886085
NM_000532.5(PCCB):c.707A>G (p.Asn236Ser) rs778955184
NM_000532.5(PCCB):c.734GTG[1] (p.Gly246del) rs1553778892
NM_000532.5(PCCB):c.746C>T (p.Thr249Ile)
NM_000532.5(PCCB):c.749A>G (p.His250Arg)
NM_000532.5(PCCB):c.763+10C>G rs180982841
NM_000532.5(PCCB):c.763+3GA[4] rs1553778916
NM_000532.5(PCCB):c.763G>A (p.Gly255Ser) rs1553778909
NM_000532.5(PCCB):c.769G>A (p.Ala257Thr)
NM_000532.5(PCCB):c.774C>G (p.His258Gln) rs141615209
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.818A>T (p.Asp273Val)
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.862G>C (p.Val288Leu) rs201984177
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.876C>G (p.His292Gln)
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.890G>A (p.Arg297His) rs147379583
NM_000532.5(PCCB):c.911C>T (p.Thr304Ile) rs147538201
NM_000532.5(PCCB):c.914T>G (p.Ile305Ser)
NM_000532.5(PCCB):c.927A>C (p.Glu309Asp)
NM_000532.5(PCCB):c.943A>G (p.Asn315Asp)
NM_000532.5(PCCB):c.94G>A (p.Ala32Thr)
NM_000532.5(PCCB):c.965C>T (p.Ser322Phe)
NM_000532.5(PCCB):c.988T>G (p.Phe330Val) rs748708704
NM_001001563.5(TIMM50):c.620G>T (p.Ser207Ile)
NM_001001563.5(TIMM50):c.671G>T (p.Arg224Ile)
NM_001001563.5(TIMM50):c.854-8G>C
NM_001017989.2(OPA3):c.-113T>C rs139731330
NM_001017989.3(OPA3):c.143-16812G>A rs192699227
NM_001017989.3(OPA3):c.184G>A (p.Gly62Ser) rs140959406
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.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) rs1599947088
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) rs1599947052
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.*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.265A>C (p.Lys89Gln)
NM_001081.4(CUBN):c.2673C>T (p.Cys891=)
NM_001081.4(CUBN):c.2839G>T (p.Gly947Cys)
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.4350+5G>A rs200324164
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.7406C>T (p.Pro2469Leu)
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_001243279.3(ACSF3):c.1060C>T (p.Arg354Trp)
NM_001243279.3(ACSF3):c.1075G>A (p.Glu359Lys) rs150487794
NM_001243279.3(ACSF3):c.1081G>A (p.Gly361Ser) rs145285434
NM_001243279.3(ACSF3):c.1087G>A (p.Ala363Thr)
NM_001243279.3(ACSF3):c.1096G>A (p.Gly366Arg)
NM_001243279.3(ACSF3):c.1121T>C (p.Leu374Pro)
NM_001243279.3(ACSF3):c.1127-5T>C rs200245960
NM_001243279.3(ACSF3):c.1127-7C>G rs761564953
NM_001243279.3(ACSF3):c.122A>T (p.Asp41Val) rs545886514
NM_001243279.3(ACSF3):c.1242G>A (p.Val414=) rs766713747
NM_001243279.3(ACSF3):c.129C>T (p.Ser43=) rs147915828
NM_001243279.3(ACSF3):c.1301G>C (p.Arg434Pro) rs137995833
NM_001243279.3(ACSF3):c.1398C>T (p.Tyr466=) rs200146632
NM_001243279.3(ACSF3):c.1406G>A (p.Arg469Gln) rs144681140
NM_001243279.3(ACSF3):c.1411C>T (p.Arg471Trp) rs138680796
NM_001243279.3(ACSF3):c.1444T>C (p.Tyr482His)
NM_001243279.3(ACSF3):c.1465G>T (p.Val489Leu)
NM_001243279.3(ACSF3):c.1470G>C (p.Glu490Asp) rs147538370
NM_001243279.3(ACSF3):c.149C>T (p.Ala50Val)
NM_001243279.3(ACSF3):c.1502-4G>A rs111414659
NM_001243279.3(ACSF3):c.1524G>A (p.Pro508=) rs375187216
NM_001243279.3(ACSF3):c.1543C>T (p.Arg515Trp)
NM_001243279.3(ACSF3):c.1553C>A (p.Ala518Asp)
NM_001243279.3(ACSF3):c.1613+8T>G rs1358602745
NM_001243279.3(ACSF3):c.1704G>A (p.Ala568=) rs539500659
NM_001243279.3(ACSF3):c.251G>A (p.Arg84Lys)
NM_001243279.3(ACSF3):c.291G>C (p.Arg97Ser)
NM_001243279.3(ACSF3):c.313G>A (p.Asp105Asn) rs145969050
NM_001243279.3(ACSF3):c.31C>T (p.Arg11Cys) rs901081235
NM_001243279.3(ACSF3):c.358G>A (p.Gly120Ser) rs200703917
NM_001243279.3(ACSF3):c.431C>T (p.Ser144Phe) rs774006659
NM_001243279.3(ACSF3):c.480C>T (p.Val160=) rs375671065
NM_001243279.3(ACSF3):c.491G>A (p.Gly164Glu)
NM_001243279.3(ACSF3):c.506C>T (p.Pro169Leu) rs377732201
NM_001243279.3(ACSF3):c.527C>A (p.Thr176Asn)
NM_001243279.3(ACSF3):c.541G>A (p.Glu181Lys) rs1567685421
NM_001243279.3(ACSF3):c.633C>T (p.Gly211=) rs140941507
NM_001243279.3(ACSF3):c.666+9C>T rs767663198
NM_001243279.3(ACSF3):c.667-9C>T rs369865917
NM_001243279.3(ACSF3):c.672C>T (p.Thr224=) rs150374081
NM_001243279.3(ACSF3):c.682C>G (p.His228Asp) rs1597898108
NM_001243279.3(ACSF3):c.691G>A (p.Ala231Thr)
NM_001243279.3(ACSF3):c.726C>T (p.Leu242=) rs377354800
NM_001243279.3(ACSF3):c.782G>C (p.Gly261Ala)
NM_001243279.3(ACSF3):c.788C>G (p.Thr263Ser)
NM_001243279.3(ACSF3):c.823-4G>C rs558325262
NM_001243279.3(ACSF3):c.828G>T (p.Trp276Cys)
NM_001243279.3(ACSF3):c.86G>C (p.Ser29Thr)
NM_001243279.3(ACSF3):c.936C>T (p.His312=) rs202119269
NM_001258392.3(CLPB):c.1003G>A (p.Glu335Lys) rs765777645
NM_001258392.3(CLPB):c.1018G>A (p.Asp340Asn)
NM_001258392.3(CLPB):c.1123-3C>T
NM_001258392.3(CLPB):c.1143G>A (p.Met381Ile) rs786205137
NM_001258392.3(CLPB):c.1147G>A (p.Glu383Lys)
NM_001258392.3(CLPB):c.1167+6T>C
NM_001258392.3(CLPB):c.1214A>T (p.Glu405Val)
NM_001258392.3(CLPB):c.1292C>T (p.Pro431Leu) rs746582120
NM_001258392.3(CLPB):c.130G>A (p.Glu44Lys)
NM_001258392.3(CLPB):c.1361T>C (p.Ile454Thr)
NM_001258392.3(CLPB):c.1375G>A (p.Ala459Thr) rs372344202
NM_001258392.3(CLPB):c.1408G>A (p.Asp470Asn) rs778269139
NM_001258392.3(CLPB):c.1409A>G (p.Asp470Gly)
NM_001258392.3(CLPB):c.142C>G (p.Leu48Val)
NM_001258392.3(CLPB):c.1453G>A (p.Glu485Lys)
NM_001258392.3(CLPB):c.1462C>T (p.Arg488Cys) rs369380599
NM_001258392.3(CLPB):c.1463G>A (p.Arg488His)
NM_001258392.3(CLPB):c.1468C>T (p.Arg490Cys)
NM_001258392.3(CLPB):c.1482C>G (p.Asn494Lys) rs779812366
NM_001258392.3(CLPB):c.1485G>A (p.Leu495=)
NM_001258392.3(CLPB):c.1514C>T (p.Thr505Ile)
NM_001258392.3(CLPB):c.1530C>G (p.Phe510Leu)
NM_001258392.3(CLPB):c.1546C>T (p.Arg516Cys) rs748289105
NM_001258392.3(CLPB):c.1552A>G (p.Ile518Val)
NM_001258392.3(CLPB):c.1570C>T (p.Arg524Trp) rs200299650
NM_001258392.3(CLPB):c.1579G>A (p.Glu527Lys) rs1590753263
NM_001258392.3(CLPB):c.1591C>T (p.Arg531Trp)
NM_001258392.3(CLPB):c.1592G>A (p.Arg531Gln) rs1590753221
NM_001258392.3(CLPB):c.1606G>A (p.Val536Ile)
NM_001258392.3(CLPB):c.1610A>C (p.Tyr537Ser)
NM_001258392.3(CLPB):c.1610A>G (p.Tyr537Cys) rs150857620
NM_001258392.3(CLPB):c.1631C>G (p.Ser544Trp)
NM_001258392.3(CLPB):c.1666T>A (p.Phe556Ile)
NM_001258392.3(CLPB):c.1672G>A (p.Ala558Thr)
NM_001258392.3(CLPB):c.1680+6A>C
NM_001258392.3(CLPB):c.1718G>A (p.Arg573His)
NM_001258392.3(CLPB):c.1744G>A (p.Gly582Ser)
NM_001258392.3(CLPB):c.1777A>C (p.Lys593Gln)
NM_001258392.3(CLPB):c.1786-3C>T rs372126133
NM_001258392.3(CLPB):c.1792C>T (p.Arg598Cys) rs150343959
NM_001258392.3(CLPB):c.1795C>T (p.Arg599Cys)
NM_001258392.3(CLPB):c.1803G>A (p.Val601=)
NM_001258392.3(CLPB):c.182C>T (p.Ala61Val)
NM_001258392.3(CLPB):c.1840C>G (p.Pro614Ala)
NM_001258392.3(CLPB):c.1844G>T (p.Gly615Val)
NM_001258392.3(CLPB):c.1859G>A (p.Arg620His) rs137882645
NM_001258392.3(CLPB):c.1859G>T (p.Arg620Leu) rs137882645
NM_001258392.3(CLPB):c.1870G>C (p.Glu624Gln)
NM_001258392.3(CLPB):c.189C>G (p.Phe63Leu)
NM_001258392.3(CLPB):c.1937C>G (p.Pro646Arg)
NM_001258392.3(CLPB):c.1958T>C (p.Ile653Thr) rs144777839
NM_001258392.3(CLPB):c.1969A>T (p.Ser657Cys)
NM_001258392.3(CLPB):c.1979G>A (p.Arg660His)
NM_001258392.3(CLPB):c.1994G>A (p.Arg665Gln)
NM_001258392.3(CLPB):c.2021G>T (p.Cys674Phe)
NM_001258392.3(CLPB):c.2033A>G (p.Ter678Trp)
NM_001258392.3(CLPB):c.203C>A (p.Ala68Glu)
NM_001258392.3(CLPB):c.214G>A (p.Gly72Arg) rs758376345
NM_001258392.3(CLPB):c.229C>A (p.Arg77Ser)
NM_001258392.3(CLPB):c.247C>T (p.Leu83Phe) rs1590947700
NM_001258392.3(CLPB):c.254C>T (p.Ala85Val)
NM_001258392.3(CLPB):c.259A>T (p.Thr87Ser)
NM_001258392.3(CLPB):c.260C>T (p.Thr87Ile) rs1424542665
NM_001258392.3(CLPB):c.299G>C (p.Gly100Ala)
NM_001258392.3(CLPB):c.2T>C (p.Met1Thr)
NM_001258392.3(CLPB):c.325A>G (p.Ser109Gly)
NM_001258392.3(CLPB):c.347G>C (p.Cys116Ser) rs549191970
NM_001258392.3(CLPB):c.356C>G (p.Ala119Gly)
NM_001258392.3(CLPB):c.359C>G (p.Ala120Gly) rs1565107812
NM_001258392.3(CLPB):c.370G>T (p.Val124Phe) rs139361195
NM_001258392.3(CLPB):c.384C>A (p.Ser128Arg)
NM_001258392.3(CLPB):c.38C>T (p.Ala13Val)
NM_001258392.3(CLPB):c.441G>C (p.Met147Ile) rs146895312
NM_001258392.3(CLPB):c.546G>A (p.Val182=)
NM_001258392.3(CLPB):c.56G>A (p.Arg19Gln)
NM_001258392.3(CLPB):c.638C>G (p.Ser213Cys)
NM_001258392.3(CLPB):c.646+6T>C rs374982363
NM_001258392.3(CLPB):c.646+7273G>C
NM_001258392.3(CLPB):c.646+7290C>T
NM_001258392.3(CLPB):c.646+7291G>A rs770932848
NM_001258392.3(CLPB):c.646+7295C>A
NM_001258392.3(CLPB):c.646+7335T>C rs746357833
NM_001258392.3(CLPB):c.646+7355C>T
NM_001258392.3(CLPB):c.680G>T (p.Arg227Met) rs1284671735
NM_001258392.3(CLPB):c.694G>A (p.Ala232Thr)
NM_001258392.3(CLPB):c.725A>G (p.Tyr242Cys) rs777313457
NM_001258392.3(CLPB):c.730G>C (p.Val244Leu)
NM_001258392.3(CLPB):c.748C>G (p.Arg250Gly) rs146762466
NM_001258392.3(CLPB):c.748C>T (p.Arg250Cys)
NM_001258392.3(CLPB):c.751A>G (p.Thr251Ala)
NM_001258392.3(CLPB):c.757A>G (p.Lys253Glu)
NM_001258392.3(CLPB):c.758A>G (p.Lys253Arg)
NM_001258392.3(CLPB):c.764T>C (p.Leu255Pro) rs1555098495
NM_001258392.3(CLPB):c.776G>A (p.Gly259Glu)
NM_001258392.3(CLPB):c.806G>T (p.Gly269Val)
NM_001258392.3(CLPB):c.812C>G (p.Thr271Arg)
NM_001258392.3(CLPB):c.819G>C (p.Leu273Phe) rs368150943
NM_001258392.3(CLPB):c.844A>G (p.Met282Val) rs773028492
NM_001258392.3(CLPB):c.889C>T (p.Arg297Trp) rs148534573
NM_001258392.3(CLPB):c.896G>A (p.Arg299His)
NM_001258392.3(CLPB):c.896G>C (p.Arg299Pro)
NM_001258392.3(CLPB):c.908A>G (p.Glu303Gly) rs144712077
NM_001258392.3(CLPB):c.910C>T (p.Arg304Trp)
NM_001258392.3(CLPB):c.914G>A (p.Arg305His)
NM_001258392.3(CLPB):c.916C>T (p.Arg306Cys)
NM_001258392.3(CLPB):c.935G>A (p.Arg312Gln)
NM_001258392.3(CLPB):c.949A>G (p.Ile317Val) rs1590786067
NM_001258392.3(CLPB):c.983G>A (p.Gly328Asp) rs1565433670
NM_001258392.3(CLPB):c.989C>G (p.Ala330Gly)
NM_001258392.3(CLPB):c.989C>T (p.Ala330Val) rs144942416
NM_001287444.2(DCDC2C):c.955-1G>C rs1167362443
NM_001330174.2(ACADSB):c.-139T>G rs149562178
NM_001330174.2(ACADSB):c.-30A>G rs1375520384
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.1093G>T (p.Val365Phe) rs1569216588
NM_001352514.2(HLCS):c.1151T>G (p.Leu384Arg) rs119103227
NM_001352514.2(HLCS):c.1192A>G (p.Thr398Ala)
NM_001352514.2(HLCS):c.1233C>A (p.His411Gln)
NM_001352514.2(HLCS):c.1278G>A (p.Glu426=) rs548505968
NM_001352514.2(HLCS):c.1327G>A (p.Val443Ile)
NM_001352514.2(HLCS):c.1328T>G (p.Val443Gly) rs778061862
NM_001352514.2(HLCS):c.1331G>A (p.Arg444Gln) rs146030669
NM_001352514.2(HLCS):c.1369G>A (p.Glu457Lys)
NM_001352514.2(HLCS):c.1414G>A (p.Gly472Arg)
NM_001352514.2(HLCS):c.1480C>T (p.Pro494Ser)
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.1685C>A (p.Ser562Tyr)
NM_001352514.2(HLCS):c.1695C>T (p.Leu565=) rs138209330
NM_001352514.2(HLCS):c.1719C>T (p.Tyr573=)
NM_001352514.2(HLCS):c.1781C>T (p.Ser594Leu)
NM_001352514.2(HLCS):c.1808A>G (p.Tyr603Cys) rs781603756
NM_001352514.2(HLCS):c.1811G>A (p.Arg604His)
NM_001352514.2(HLCS):c.1821G>A (p.Leu607=)
NM_001352514.2(HLCS):c.1843G>C (p.Val615Leu)
NM_001352514.2(HLCS):c.1850T>C (p.Leu617Ser) rs1261821166
NM_001352514.2(HLCS):c.1857C>A (p.Ala619=) rs759178651
NM_001352514.2(HLCS):c.1910C>T (p.Pro637Leu)
NM_001352514.2(HLCS):c.1918A>G (p.Met640Val) rs772156741
NM_001352514.2(HLCS):c.1922G>T (p.Gly641Val)
NM_001352514.2(HLCS):c.1943G>A (p.Arg648Gln) rs886057076
NM_001352514.2(HLCS):c.1954G>C (p.Gly652Arg) rs1555885056
NM_001352514.2(HLCS):c.1974dup (p.Val659fs) rs767533946
NM_001352514.2(HLCS):c.1977G>A (p.Val659=) rs886057075
NM_001352514.2(HLCS):c.2036C>A (p.Ser679Tyr) rs777373322
NM_001352514.2(HLCS):c.206A>G (p.Asp69Gly) rs886057080
NM_001352514.2(HLCS):c.2121+1G>A rs1175936807
NM_001352514.2(HLCS):c.2121+8C>A
NM_001352514.2(HLCS):c.2135G>A (p.Arg712Gln) rs769446135
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.2203A>G (p.Thr735Ala)
NM_001352514.2(HLCS):c.2225A>G (p.Tyr742Cys)
NM_001352514.2(HLCS):c.2251G>A (p.Val751Met) rs1555882115
NM_001352514.2(HLCS):c.2267C>G (p.Pro756Arg) rs1601100788
NM_001352514.2(HLCS):c.2268_2270del (p.Thr757del) rs1555882090
NM_001352514.2(HLCS):c.2313C>G (p.His771Gln)
NM_001352514.2(HLCS):c.2340C>T (p.Ala780=) rs760265551
NM_001352514.2(HLCS):c.2341G>A (p.Asp781Asn) rs149399432
NM_001352514.2(HLCS):c.2345A>G (p.Tyr782Cys)
NM_001352514.2(HLCS):c.2352C>T (p.Ile784=) rs150263699
NM_001352514.2(HLCS):c.2371C>G (p.Leu791Val)
NM_001352514.2(HLCS):c.2416G>A (p.Val806Ile) rs368124997
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.2450+1_2450+2del
NM_001352514.2(HLCS):c.2451-1G>A rs1158898827
NM_001352514.2(HLCS):c.2465A>G (p.His822Arg)
NM_001352514.2(HLCS):c.2476G>A (p.Ala826Thr)
NM_001352514.2(HLCS):c.2500G>A (p.Val834Ile) rs145648338
NM_001352514.2(HLCS):c.2501_2503dup (p.Val834dup) rs773191073
NM_001352514.2(HLCS):c.2519G>C (p.Gly840Ala) rs764148793
NM_001352514.2(HLCS):c.2529G>A (p.Gln843=)
NM_001352514.2(HLCS):c.2545G>A (p.Gly849Ser)
NM_001352514.2(HLCS):c.2548G>A (p.Glu850Lys)
NM_001352514.2(HLCS):c.2567C>T (p.Pro856Leu)
NM_001352514.2(HLCS):c.2567del (p.Pro856fs) rs1555880930
NM_001352514.2(HLCS):c.2568G>A (p.Pro856=)
NM_001352514.2(HLCS):c.2584G>A (p.Asp862Asn)
NM_001352514.2(HLCS):c.2587_2588del (p.Met863fs) rs1555880894
NM_001352514.2(HLCS):c.2611_2614del (p.Lys871fs) rs774356408
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.442A>C (p.Met148Leu) rs764841449
NM_001352514.2(HLCS):c.442A>G (p.Met148Val) rs764841449
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.495G>A (p.Ser165=)
NM_001352514.2(HLCS):c.500A>G (p.His167Arg) rs577182758
NM_001352514.2(HLCS):c.569C>T (p.Pro190Leu)
NM_001352514.2(HLCS):c.574C>G (p.Pro192Ala)
NM_001352514.2(HLCS):c.581C>T (p.Pro194Leu)
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.737A>G (p.Tyr246Cys)
NM_001352514.2(HLCS):c.767G>T (p.Cys256Phe)
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>C (p.Tyr314Ser) rs778638155
NM_001352514.2(HLCS):c.941A>G (p.Tyr314Cys)
NM_001352514.2(HLCS):c.951C>T (p.Ser317=) rs185480832
NM_001352514.2(HLCS):c.988C>T (p.Arg330Trp)
NM_001352514.2(HLCS):c.989G>C (p.Arg330Pro)
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.*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.-38G>A
NM_001370658.1(BTD):c.-45A>T
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.1042G>A (p.Asp348Asn)
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.1076A>G (p.His359Arg)
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.1116_1118del (p.Thr373del)
NM_001370658.1(BTD):c.1145A>G (p.Asn382Ser) rs201023772
NM_001370658.1(BTD):c.1147T>G (p.Phe383Val) rs104893686
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.1189G>A (p.Val397Ile)
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.1264G>A (p.Val422Ile) rs776369447
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.132G>C (p.Glu44Asp) rs397514436
NM_001370658.1(BTD):c.1333G>T (p.Gly445Cys) rs746099217
NM_001370658.1(BTD):c.1334G>T (p.Gly445Val)
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.1372G>C (p.Ala458Pro) 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.1456C>A (p.Leu486Ile)
NM_001370658.1(BTD):c.1471C>G (p.Gln491Glu) rs397514427
NM_001370658.1(BTD):c.1496A>G (p.Tyr499Cys)
NM_001370658.1(BTD):c.1503del (p.Arg502fs) rs1163419871
NM_001370658.1(BTD):c.1536G>A (p.Thr512=) rs774052068
NM_001370658.1(BTD):c.1543C>T (p.Leu515Phe) rs771537277
NM_001370658.1(BTD):c.1552C>A (p.Arg518Ser) rs80338686
NM_001370658.1(BTD):c.1553G>T (p.Arg518Leu) rs397514429
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.179A>C (p.Gln60Pro)
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.202C>G (p.Gln68Glu) rs151071780
NM_001370658.1(BTD):c.239C>T (p.Ala80Val) rs1553652171
NM_001370658.1(BTD):c.249+5G>T
NM_001370658.1(BTD):c.250-15del rs587783008
NM_001370658.1(BTD):c.261T>G (p.Ile87Met) rs1024847163
NM_001370658.1(BTD):c.271C>G (p.Pro91Ala) rs1553653070
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>G (p.Arg128Gly)
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.385T>C (p.Phe129Leu) rs397514359
NM_001370658.1(BTD):c.38G>T (p.Cys13Phe) rs141131444
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.496T>C (p.Cys166Arg)
NM_001370658.1(BTD):c.506A>G (p.Asp169Gly) rs139829181
NM_001370658.1(BTD):c.522C>G (p.Phe174Leu) rs750363004
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.557TTG[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.616A>G (p.Lys206Glu)
NM_001370658.1(BTD):c.649G>A (p.Ala217Thr) rs397514381
NM_001370658.1(BTD):c.653G>C (p.Gly218Ala) rs144901367
NM_001370658.1(BTD):c.674G>A (p.Cys225Tyr) rs397507175
NM_001370658.1(BTD):c.682A>C (p.Ile228Leu)
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.73G>A (p.Gly25Arg) rs34885143
NM_001370658.1(BTD):c.751G>T (p.Ala251Ser)
NM_001370658.1(BTD):c.754T>G (p.Trp252Gly) rs397514387
NM_001370658.1(BTD):c.755G>A (p.Trp252Ter) rs148031701
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.835G>C (p.Ala279Pro) rs1157567876
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.*1195C>A rs886046787
NM_001609.3(ACADSB):c.*1337A>G rs190353878
NM_001609.3(ACADSB):c.*1508C>T rs886046788
NM_001609.3(ACADSB):c.*1543G>T rs886046789
NM_001609.3(ACADSB):c.*1682T>C rs886046790
NM_001609.3(ACADSB):c.*1754A>G rs886046791
NM_001609.3(ACADSB):c.*1840T>G rs886046792
NM_001609.3(ACADSB):c.*1907C>T rs886046793
NM_001609.3(ACADSB):c.*1942C>T rs886046794
NM_001609.3(ACADSB):c.*2060G>A rs886046795
NM_001609.3(ACADSB):c.*2085C>T rs766980366
NM_001609.3(ACADSB):c.*2174A>G rs577027224
NM_001609.3(ACADSB):c.*2224A>C rs192771453
NM_001609.3(ACADSB):c.*2329A>G rs543916865
NM_001609.3(ACADSB):c.*2339G>A rs886046796
NM_001609.3(ACADSB):c.*2529G>A rs182831006
NM_001609.3(ACADSB):c.*2548G>T rs545467732
NM_001609.3(ACADSB):c.*2686G>C rs886046797
NM_001609.3(ACADSB):c.*277A>T rs149609453
NM_001609.3(ACADSB):c.*2803T>C rs187253795
NM_001609.3(ACADSB):c.*285T>C rs552366364
NM_001609.3(ACADSB):c.*2922G>A rs184574685
NM_001609.3(ACADSB):c.*2950A>G rs886046798
NM_001609.3(ACADSB):c.*323G>A rs886046785
NM_001609.3(ACADSB):c.*3340G>C rs886046799
NM_001609.3(ACADSB):c.*3390C>A rs751677400
NM_001609.3(ACADSB):c.*3431C>G rs886046800
NM_001609.3(ACADSB):c.*3470T>C rs547577402
NM_001609.3(ACADSB):c.*3483T>G rs886046801
NM_001609.3(ACADSB):c.*3597G>A rs755235760
NM_001609.3(ACADSB):c.*3619T>C rs886046802
NM_001609.3(ACADSB):c.*3918G>A rs886046803
NM_001609.3(ACADSB):c.*3941C>A rs886046804
NM_001609.3(ACADSB):c.*3993T>A rs886046805
NM_001609.3(ACADSB):c.*4177G>A rs886046806
NM_001609.3(ACADSB):c.*57G>A rs886046783
NM_001609.3(ACADSB):c.*59G>A rs886046784
NM_001609.3(ACADSB):c.*6A>G rs530087761
NM_001609.3(ACADSB):c.*973A>G rs886046786
NM_001609.3(ACADSB):c.-102G>C rs886046775
NM_001609.3(ACADSB):c.-22A>G rs563472823
NM_001609.3(ACADSB):c.-39G>A rs886046776
NM_001609.3(ACADSB):c.1062T>C (p.Ala354=) rs886046780
NM_001609.3(ACADSB):c.1128+2_1128+3insTA rs1554874107
NM_001609.3(ACADSB):c.1128+2_1128+4del rs1564754575
NM_001609.3(ACADSB):c.1128+3A>T rs760423996
NM_001609.3(ACADSB):c.1145C>T (p.Thr382Met) rs772084235
NM_001609.3(ACADSB):c.1154G>A (p.Cys385Tyr) rs1370215763
NM_001609.3(ACADSB):c.1156A>G (p.Ile386Val) rs770827167
NM_001609.3(ACADSB):c.1159G>A (p.Glu387Lys) rs188094280
NM_001609.3(ACADSB):c.1168G>A (p.Gly390Arg) rs764095189
NM_001609.3(ACADSB):c.1170G>T (p.Gly390=) rs886046781
NM_001609.3(ACADSB):c.1186A>G (p.Lys396Glu) rs199963793
NM_001609.3(ACADSB):c.1187A>C (p.Lys396Thr) rs148640214
NM_001609.3(ACADSB):c.1213C>T (p.Arg405Ter) rs200154326
NM_001609.3(ACADSB):c.1228+8G>C rs202191462
NM_001609.3(ACADSB):c.1271T>C (p.Ile424Thr) rs748926593
NM_001609.3(ACADSB):c.260C>T (p.Ser87Leu) rs745481903
NM_001609.3(ACADSB):c.334G>A (p.Gly112Arg) rs1564751382
NM_001609.3(ACADSB):c.370G>C (p.Val124Leu) rs375217368
NM_001609.3(ACADSB):c.429C>T (p.Asn143=) rs886046777
NM_001609.3(ACADSB):c.42G>A (p.Leu14=) rs745863047
NM_001609.3(ACADSB):c.42G>T (p.Leu14=) rs745863047
NM_001609.3(ACADSB):c.443C>T (p.Thr148Ile) rs58639322
NM_001609.3(ACADSB):c.544G>T (p.Gly182Cys) rs886046778
NM_001609.3(ACADSB):c.655G>A (p.Val219Met) rs553730391
NM_001609.3(ACADSB):c.681+14C>T rs748185849
NM_001609.3(ACADSB):c.682-7T>C rs886046779
NM_001609.3(ACADSB):c.795C>T (p.Phe265=) rs150619709
NM_001609.3(ACADSB):c.958A>T (p.Ile320Leu) rs1554873785
NM_001609.3(ACADSB):c.95T>A (p.Val32Asp) rs751722805
NM_001609.4(ACADSB):c.*1380G>A
NM_001609.4(ACADSB):c.*1552A>G
NM_001609.4(ACADSB):c.*1827G>A
NM_001609.4(ACADSB):c.*1865C>T
NM_001609.4(ACADSB):c.*195G>A
NM_001609.4(ACADSB):c.*1981G>A
NM_001609.4(ACADSB):c.*2581A>C
NM_001609.4(ACADSB):c.*263G>A
NM_001609.4(ACADSB):c.*3178A>C
NM_001609.4(ACADSB):c.*3321C>T
NM_001609.4(ACADSB):c.*3332A>T
NM_001609.4(ACADSB):c.*3409A>T
NM_001609.4(ACADSB):c.*3911A>G
NM_001609.4(ACADSB):c.*4324G>T
NM_001609.4(ACADSB):c.*498G>A
NM_001609.4(ACADSB):c.*808G>A
NM_001609.4(ACADSB):c.*808G>C
NM_001609.4(ACADSB):c.*84G>A
NM_001609.4(ACADSB):c.*972A>G
NM_001609.4(ACADSB):c.-19G>C
NM_001609.4(ACADSB):c.1014C>G (p.His338Gln)
NM_001609.4(ACADSB):c.1015G>A (p.Val339Met)
NM_001609.4(ACADSB):c.1060G>A (p.Ala354Thr)
NM_001609.4(ACADSB):c.1102T>C (p.Ser368Pro)
NM_001609.4(ACADSB):c.1128+2dup
NM_001609.4(ACADSB):c.1128+3A>G rs760423996
NM_001609.4(ACADSB):c.1138C>G (p.Gln380Glu)
NM_001609.4(ACADSB):c.1151A>T (p.Lys384Ile)
NM_001609.4(ACADSB):c.1184C>T (p.Thr395Ile)
NM_001609.4(ACADSB):c.1219G>A (p.Ala407Thr)
NM_001609.4(ACADSB):c.1228+21del rs11307362
NM_001609.4(ACADSB):c.1229-15T>G
NM_001609.4(ACADSB):c.1232C>T (p.Thr411Met)
NM_001609.4(ACADSB):c.154G>A (p.Ala52Thr)
NM_001609.4(ACADSB):c.20G>T (p.Arg7Leu)
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.640G>T (p.Ala214Ser)
NM_001609.4(ACADSB):c.675T>C (p.Pro225=)
NM_001609.4(ACADSB):c.796G>A (p.Glu266Lys)
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.20C>T (p.Ala7Val) rs863223911
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.374G>A (p.Arg125Gln) rs137939308
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) rs1587621572
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.936T>C (p.Tyr312=) rs139628387
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_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.197G>T (p.Gly66Val)
NM_001698.3(AUH):c.323T>C (p.Ile108Thr)
NM_001698.3(AUH):c.381A>G rs146227896
NM_001698.3(AUH):c.385A>T (p.Ile129Phe)
NM_001698.3(AUH):c.40T>C (p.Ser14Pro)
NM_001698.3(AUH):c.419G>A (p.Gly140Asp)
NM_001698.3(AUH):c.464G>C (p.Gly155Ala)
NM_001698.3(AUH):c.578C>T (p.Ala193Val)
NM_001698.3(AUH):c.584A>C (p.Asp195Ala)
NM_001698.3(AUH):c.623T>C (p.Val208Ala)
NM_001698.3(AUH):c.655+7G>A
NM_001698.3(AUH):c.679G>A (p.Ala227Thr)
NM_001698.3(AUH):c.722G>A (p.Arg241Gln)
NM_001698.3(AUH):c.894+9C>A
NM_001698.3(AUH):c.898G>A (p.Asp300Asn)
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.-8T>G rs566691073
NM_002225.5(IVD):c.1001T>C (p.Met334Thr) rs368041528
NM_002225.5(IVD):c.1009C>T (p.Arg337Trp) rs776608445
NM_002225.5(IVD):c.1010G>A (p.Arg337Gln) rs139908696
NM_002225.5(IVD):c.1112T>C (p.Val371Ala) rs754600862
NM_002225.5(IVD):c.1120G>A (p.Asp374Asn) rs1566941619
NM_002225.5(IVD):c.1136T>C (p.Phe379Ser)
NM_002225.5(IVD):c.1138+13C>T
NM_002225.5(IVD):c.1138G>C (p.Gly380Arg)
NM_002225.5(IVD):c.1139-3C>G rs367891946
NM_002225.5(IVD):c.1139-8G>C rs755640305
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.133G>A (p.Glu45Lys)
NM_002225.5(IVD):c.137A>G (p.Gln46Arg)
NM_002225.5(IVD):c.148C>G (p.Arg50Gly) rs34695403
NM_002225.5(IVD):c.150T>A (p.Arg50=) rs762440985
NM_002225.5(IVD):c.164A>T (p.Lys55Met) rs145999491
NM_002225.5(IVD):c.17G>A (p.Arg6Gln)
NM_002225.5(IVD):c.202A>G (p.Ile68Val)
NM_002225.5(IVD):c.233G>C (p.Arg78Pro) rs771929559
NM_002225.5(IVD):c.264C>T (p.Gly88=) rs377199313
NM_002225.5(IVD):c.268T>A (p.Leu90Met) rs780854004
NM_002225.5(IVD):c.272G>A (p.Gly91Asp) rs1555403365
NM_002225.5(IVD):c.307C>G (p.Leu103Val)
NM_002225.5(IVD):c.334A>T (p.Met112Leu)
NM_002225.5(IVD):c.357C>T (p.Ser119=)
NM_002225.5(IVD):c.400A>G (p.Ile134Val) rs151118565
NM_002225.5(IVD):c.408G>C (p.Gln136His) rs569537063
NM_002225.5(IVD):c.436A>G (p.Lys146Glu) rs1448656950
NM_002225.5(IVD):c.438A>G (p.Lys146=) rs1007239169
NM_002225.5(IVD):c.456G>A (p.Lys152=) rs886044117
NM_002225.5(IVD):c.457-2A>G rs771914739
NM_002225.5(IVD):c.464G>A (p.Ser155Asn) rs140182461
NM_002225.5(IVD):c.464GTG[3] (p.Gly156dup) rs796051982
NM_002225.5(IVD):c.467G>C (p.Gly156Ala)
NM_002225.5(IVD):c.490A>G (p.Met164Val)
NM_002225.5(IVD):c.516TGT[1] (p.Val174del) rs1566936030
NM_002225.5(IVD):c.521T>G (p.Val174Gly)
NM_002225.5(IVD):c.52C>T (p.Arg18Trp)
NM_002225.5(IVD):c.550+6G>A
NM_002225.5(IVD):c.596G>T (p.Gly199Val) rs121434285
NM_002225.5(IVD):c.60G>T (p.Pro20=)
NM_002225.5(IVD):c.618del (p.Ile206fs) rs781630355
NM_002225.5(IVD):c.678T>G (p.Ile226Met)
NM_002225.5(IVD):c.707C>T (p.Thr236Ile) rs146861563
NM_002225.5(IVD):c.710C>T (p.Ser237Phe)
NM_002225.5(IVD):c.712AAG[1] (p.Lys239del) rs1555404430
NM_002225.5(IVD):c.784+13G>A rs369694967
NM_002225.5(IVD):c.784+9C>T
NM_002225.5(IVD):c.796C>G (p.Leu266Val) rs766980574
NM_002225.5(IVD):c.803A>G (p.His268Arg)
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.848A>G (p.Glu283Gly) rs1314850102
NM_002225.5(IVD):c.851G>A (p.Arg284Gln) rs373534546
NM_002225.5(IVD):c.865G>A (p.Gly289Arg)
NM_002225.5(IVD):c.865G>T (p.Gly289Trp)
NM_002225.5(IVD):c.870G>T (p.Gly290=)
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) rs1595786862
NM_002225.5(IVD):c.895C>G (p.Leu299Val)
NM_002225.5(IVD):c.961T>C (p.Leu321=) rs146011049
NM_002225.5(IVD):c.967C>G (p.Gln323Glu)
NM_002225.5(IVD):c.995G>T (p.Arg332Leu)
NM_004813.4(PEX16):c.710T>G (p.Leu237Arg)
NM_005050.4(ABCD4):c.1019A>G (p.Tyr340Cys)
NM_005050.4(ABCD4):c.1028+5G>A
NM_005050.4(ABCD4):c.1049C>T (p.Thr350Met)
NM_005050.4(ABCD4):c.1095C>T (p.Gly365=)
NM_005050.4(ABCD4):c.1136C>T (p.Ala379Val)
NM_005050.4(ABCD4):c.1255A>G (p.Ile419Val)
NM_005050.4(ABCD4):c.1306G>A (p.Gly436Ser)
NM_005050.4(ABCD4):c.1325G>A (p.Arg442Gln)
NM_005050.4(ABCD4):c.1337A>G (p.Gln446Arg)
NM_005050.4(ABCD4):c.1346C>T (p.Thr449Met) rs969369250
NM_005050.4(ABCD4):c.1352T>C (p.Phe451Ser) rs1594861158
NM_005050.4(ABCD4):c.1402G>A (p.Gly468Arg)
NM_005050.4(ABCD4):c.1411C>T (p.Arg471Trp) rs45568335
NM_005050.4(ABCD4):c.1426T>C (p.Tyr476His)
NM_005050.4(ABCD4):c.1465G>A (p.Asp489Asn) rs139901585
NM_005050.4(ABCD4):c.1559+7_1559+11del
NM_005050.4(ABCD4):c.1578G>A (p.Pro526=) rs555792734
NM_005050.4(ABCD4):c.1633G>A (p.Ala545Thr)
NM_005050.4(ABCD4):c.166G>A (p.Val56Met)
NM_005050.4(ABCD4):c.1680C>G (p.Ser560Arg) rs138753274
NM_005050.4(ABCD4):c.1691G>A (p.Arg564His)
NM_005050.4(ABCD4):c.1752+2T>C rs151116417
NM_005050.4(ABCD4):c.1794G>C (p.Trp598Cys)
NM_005050.4(ABCD4):c.352C>T (p.His118Tyr) rs371774856
NM_005050.4(ABCD4):c.364C>T (p.Leu122Phe) rs141808601
NM_005050.4(ABCD4):c.406C>T (p.Arg136Trp) rs145141432
NM_005050.4(ABCD4):c.40C>G (p.Pro14Ala)
NM_005050.4(ABCD4):c.463C>T (p.Arg155Trp)
NM_005050.4(ABCD4):c.503C>T (p.Pro168Leu) rs747354548
NM_005050.4(ABCD4):c.565A>G (p.Ser189Gly) rs183607306
NM_005050.4(ABCD4):c.5C>T (p.Ala2Val)
NM_005050.4(ABCD4):c.611T>C (p.Leu204Ser)
NM_005050.4(ABCD4):c.727C>T (p.His243Tyr)
NM_005050.4(ABCD4):c.752G>A (p.Arg251His) rs139315421
NM_005050.4(ABCD4):c.801G>C (p.Glu267Asp)
NM_005050.4(ABCD4):c.821T>A (p.Ile274Asn)
NM_005050.4(ABCD4):c.859G>A (p.Val287Ile)
NM_005050.4(ABCD4):c.89T>G (p.Val30Gly)
NM_005050.4(ABCD4):c.956A>G (p.Tyr319Cys) rs201777056
NM_005334.3(HCFC1):c.1030C>T (p.Arg344Cys)
NM_005334.3(HCFC1):c.1309G>A (p.Val437Met)
NM_005334.3(HCFC1):c.1398G>A (p.Thr466=)
NM_005334.3(HCFC1):c.1427C>T (p.Thr476Ile) rs782364666
NM_005334.3(HCFC1):c.1429G>A (p.Ala477Thr) rs782010359
NM_005334.3(HCFC1):c.1689G>A (p.Ser563=)
NM_005334.3(HCFC1):c.1697C>T (p.Thr566Met)
NM_005334.3(HCFC1):c.2626G>A (p.Gly876Ser) rs200053475
NM_005334.3(HCFC1):c.2668G>A (p.Val890Ile)
NM_005334.3(HCFC1):c.3257G>A (p.Gly1086Asp)
NM_005334.3(HCFC1):c.3317A>C (p.Asn1106Thr)
NM_005334.3(HCFC1):c.3409C>T (p.Arg1137Trp)
NM_005334.3(HCFC1):c.3495G>C (p.Gln1165His)
NM_005334.3(HCFC1):c.3563C>T (p.Ser1188Leu) rs782473277
NM_005334.3(HCFC1):c.3674T>C (p.Ile1225Thr)
NM_005334.3(HCFC1):c.3695G>A (p.Arg1232His) rs201578135
NM_005334.3(HCFC1):c.3730C>T (p.Arg1244Cys)
NM_005334.3(HCFC1):c.3779G>T (p.Ser1260Ile)
NM_005334.3(HCFC1):c.3791G>C (p.Gly1264Ala)
NM_005334.3(HCFC1):c.3892G>A (p.Glu1298Lys) rs781949446
NM_005334.3(HCFC1):c.4109C>T (p.Ser1370Leu) rs1557113656
NM_005334.3(HCFC1):c.4153A>G (p.Arg1385Gly) rs781783048
NM_005334.3(HCFC1):c.4242G>C (p.Gln1414His) rs1004412459
NM_005334.3(HCFC1):c.4291C>T (p.His1431Tyr)
NM_005334.3(HCFC1):c.4315A>C (p.Asn1439His) rs782138046
NM_005334.3(HCFC1):c.4334A>G (p.Asp1445Gly)
NM_005334.3(HCFC1):c.4423A>G (p.Thr1475Ala)
NM_005334.3(HCFC1):c.4499C>T (p.Pro1500Leu)
NM_005334.3(HCFC1):c.4520C>T (p.Ser1507Leu)
NM_005334.3(HCFC1):c.4566G>A (p.Ser1522=)
NM_005334.3(HCFC1):c.4576G>A (p.Ala1526Thr) rs782652831
NM_005334.3(HCFC1):c.4687G>A (p.Gly1563Ser)
NM_005334.3(HCFC1):c.4733C>T (p.Thr1578Ile)
NM_005334.3(HCFC1):c.477C>T (p.Ser159=)
NM_005334.3(HCFC1):c.4790C>T (p.Ala1597Val)
NM_005334.3(HCFC1):c.4815G>A (p.Thr1605=) rs782313635
NM_005334.3(HCFC1):c.4983_4988del (p.Val1662_Thr1663del) rs1275942023
NM_005334.3(HCFC1):c.5053G>A (p.Val1685Met)
NM_005334.3(HCFC1):c.5276A>C (p.Asn1759Thr)
NM_005334.3(HCFC1):c.5391GCC[1] (p.Pro1801del) rs782769309
NM_005334.3(HCFC1):c.5420A>G (p.Lys1807Arg)
NM_005334.3(HCFC1):c.5423A>G (p.Lys1808Arg)
NM_005334.3(HCFC1):c.5468T>C (p.Val1823Ala)
NM_005334.3(HCFC1):c.5698A>G (p.Ser1900Gly)
NM_005334.3(HCFC1):c.6069G>T (p.Met2023Ile)
NM_005334.3(HCFC1):c.712+6C>T
NM_005334.3(HCFC1):c.73delinsCCAC (p.Trp25delinsProArg)
NM_005334.3(HCFC1):c.905-3C>T rs200367055
NM_013247.5(HTRA2):c.146G>C (p.Arg49Pro)
NM_013247.5(HTRA2):c.739C>T (p.Arg247Cys)
NM_014362.4(HIBCH):c.1053T>G (p.Ile351Met) rs1575690635
NM_014362.4(HIBCH):c.182C>T (p.Thr61Ile) rs1575757363
NM_014362.4(HIBCH):c.196C>T (p.Arg66Trp) rs757976755
NM_014362.4(HIBCH):c.226G>A (p.Glu76Lys)
NM_014362.4(HIBCH):c.238G>C (p.Glu80Gln) rs200185893
NM_014362.4(HIBCH):c.353T>C (p.Phe118Ser)
NM_014362.4(HIBCH):c.365A>G (p.Tyr122Cys) rs121918329
NM_014362.4(HIBCH):c.410C>T (p.Ala137Val) rs1114167288
NM_014362.4(HIBCH):c.529G>C (p.Asp177His)
NM_014362.4(HIBCH):c.763C>G (p.Arg255Gly)
NM_014362.4(HIBCH):c.790C>T (p.His264Tyr)
NM_014362.4(HIBCH):c.794T>C (p.Met265Thr) rs201049927
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.1000C>T (p.Arg334Cys) rs778823613
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.1129G>A (p.Gly377Ser) rs121908419
NM_014384.2(ACAD8):c.1233C>T (p.Ser411=) rs146145710
NM_014384.2(ACAD8):c.233T>C (p.Met78Thr) rs767613745
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) rs773978651
NM_014384.2(ACAD8):c.293C>T (p.Ser98Phe) rs948304437
NM_014384.2(ACAD8):c.2T>C (p.Met1Thr) rs767041100
NM_014384.2(ACAD8):c.308T>G (p.Leu103Arg) rs763906092
NM_014384.2(ACAD8):c.337G>A (p.Ala113Thr) rs751633406
NM_014384.2(ACAD8):c.381-4T>A rs886048023
NM_014384.2(ACAD8):c.384G>A (p.Met128Ile) rs374317179
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.455T>C (p.Met152Thr) rs121908418
NM_014384.2(ACAD8):c.466G>T (p.Ala156Ser) rs201273972
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.734C>T (p.Ala245Val) rs780609527
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.905G>C (p.Arg302Pro) rs121908422
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_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.1036G>A (p.Asp346Asn)
NM_014384.3(ACAD8):c.1084T>C (p.Cys362Arg)
NM_014384.3(ACAD8):c.1092+3_1092+6del rs780925587
NM_014384.3(ACAD8):c.110-13A>G
NM_014384.3(ACAD8):c.110-6C>T
NM_014384.3(ACAD8):c.1133A>C (p.Tyr378Ser)
NM_014384.3(ACAD8):c.1147G>A (p.Ala383Thr)
NM_014384.3(ACAD8):c.1154A>G (p.Gln385Arg)
NM_014384.3(ACAD8):c.1193A>G (p.Glu398Gly)
NM_014384.3(ACAD8):c.1196-4_1196-2del
NM_014384.3(ACAD8):c.207G>A (p.Gln69=) rs199868020
NM_014384.3(ACAD8):c.290G>A (p.Gly97Glu)
NM_014384.3(ACAD8):c.340A>G (p.Thr114Ala)
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.527C>G (p.Ala176Gly)
NM_014384.3(ACAD8):c.538G>C (p.Gly180Arg)
NM_014384.3(ACAD8):c.64G>T (p.Val22Phe)
NM_014384.3(ACAD8):c.763G>A (p.Val255Met)
NM_014384.3(ACAD8):c.794G>C (p.Gly265Ala)
NM_014384.3(ACAD8):c.806C>T (p.Ala269Val)
NM_014384.3(ACAD8):c.822C>A (p.Asn274Lys)
NM_014384.3(ACAD8):c.833T>C (p.Ile278Thr)
NM_014384.3(ACAD8):c.842-15G>A
NM_014384.3(ACAD8):c.849C>G (p.Cys283Trp)
NM_014384.3(ACAD8):c.867C>G (p.His289Gln)
NM_014384.3(ACAD8):c.887G>A (p.Arg296Gln)
NM_014384.3(ACAD8):c.948A>G (p.Gln316=)
NM_014384.3(ACAD8):c.985G>A (p.Ala329Thr)
NM_014384.3(ACAD8):c.989G>A (p.Arg330Gln)
NM_015506.2(MMACHC):c.271dupA rs398124292
NM_015506.3(MMACHC):c.*5C>G rs557994288
NM_015506.3(MMACHC):c.145G>C (p.Ala49Pro)
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.19G>A (p.Glu7Lys)
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.319G>A (p.Val107Met)
NM_015506.3(MMACHC):c.349G>C (p.Ala117Pro) rs752205161
NM_015506.3(MMACHC):c.354_365del (p.Gln118_Ala121del)
NM_015506.3(MMACHC):c.356C>G (p.Thr119Arg)
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.406G>A (p.Glu136Lys)
NM_015506.3(MMACHC):c.40G>A (p.Asp14Asn) rs563710045
NM_015506.3(MMACHC):c.436_450del (p.Ser146_Ile150del) rs747550590
NM_015506.3(MMACHC):c.445_446del (p.Cys149fs) rs796051999
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) rs1570832855
NM_015506.3(MMACHC):c.491TGC[2] (p.Leu166del) rs1249948465
NM_015506.3(MMACHC):c.506T>C (p.Ile169Thr)
NM_015506.3(MMACHC):c.544T>C (p.Cys182Arg) rs955468279
NM_015506.3(MMACHC):c.545G>A (p.Cys182Tyr) rs372010149
NM_015506.3(MMACHC):c.548T>C (p.Val183Ala) rs780926592
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) rs375442063
NM_015506.3(MMACHC):c.584G>C (p.Gly195Ala)
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.641G>A (p.Arg214His) rs202189863
NM_015506.3(MMACHC):c.643T>C (p.Tyr215His)
NM_015506.3(MMACHC):c.649G>A (p.Glu217Lys)
NM_015506.3(MMACHC):c.650A>T (p.Glu217Val) rs199641732
NM_015506.3(MMACHC):c.683C>T (p.Ala228Val) rs201269886
NM_015506.3(MMACHC):c.687A>G (p.Gln229=)
NM_015506.3(MMACHC):c.701del (p.Leu234fs) rs767339897
NM_015506.3(MMACHC):c.728del (p.Pro243fs) rs1409915649
NM_015506.3(MMACHC):c.733T>C (p.Ser245Pro)
NM_015506.3(MMACHC):c.745dup (p.Asp249fs) rs1553162993
NM_015506.3(MMACHC):c.766_771del (p.Ala256_Pro257del) rs796064513
NM_015506.3(MMACHC):c.770C>T (p.Pro257Leu)
NM_015506.3(MMACHC):c.771dup (p.Lys258fs) rs763886783
NM_015506.3(MMACHC):c.795_*18delinsGTATGGTA (p.Ala266fs)
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) rs745419717
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.10-9C>G
NM_015702.3(MMADHC):c.136G>C (p.Ala46Pro) rs749521854
NM_015702.3(MMADHC):c.152T>C (p.Ile51Thr)
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.311C>T (p.Ala104Val)
NM_015702.3(MMADHC):c.373G>C (p.Gly125Arg)
NM_015702.3(MMADHC):c.406A>G (p.Ser136Gly)
NM_015702.3(MMADHC):c.414A>C (p.Glu138Asp)
NM_015702.3(MMADHC):c.41A>G (p.Tyr14Cys) rs756550492
NM_015702.3(MMADHC):c.455C>G (p.Thr152Arg) rs146795035
NM_015702.3(MMADHC):c.515A>C (p.Lys172Thr) rs147318949
NM_015702.3(MMADHC):c.557T>C (p.Met186Thr)
NM_015702.3(MMADHC):c.578T>C (p.Val193Ala) rs147370143
NM_015702.3(MMADHC):c.607A>G (p.Lys203Glu) rs1553453961
NM_015702.3(MMADHC):c.609+6T>C
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.737A>G (p.Asp246Gly)
NM_015702.3(MMADHC):c.73G>T (p.Val25Phe)
NM_015702.3(MMADHC):c.743G>A (p.Arg248His) rs756858861
NM_015702.3(MMADHC):c.759A>T (p.Gly253=) rs886054920
NM_015702.3(MMADHC):c.764C>G (p.Ser255Cys)
NM_015702.3(MMADHC):c.800A>G (p.His267Arg) rs753424109
NM_015702.3(MMADHC):c.869T>G (p.Met290Arg)
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.1130T>C (p.Phe377Ser) rs73477459
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.1199T>C (p.Ile400Thr)
NM_018368.4(LMBRD1):c.1214C>G (p.Thr405Ser) rs561265847
NM_018368.4(LMBRD1):c.1217G>A (p.Arg406Lys)
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.1510G>T (p.Val504Leu) rs980145400
NM_018368.4(LMBRD1):c.160C>G (p.Leu54Val)
NM_018368.4(LMBRD1):c.1611C>G (p.Val537=)
NM_018368.4(LMBRD1):c.187C>G (p.Leu63Val)
NM_018368.4(LMBRD1):c.368A>G (p.Tyr123Cys)
NM_018368.4(LMBRD1):c.384T>C (p.Asp128=) rs143642515
NM_018368.4(LMBRD1):c.400T>C (p.Cys134Arg) rs1582124917
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.596C>T (p.Ser199Phe) rs1562105981
NM_018368.4(LMBRD1):c.688G>A (p.Ala230Thr) rs376081191
NM_018368.4(LMBRD1):c.694T>A (p.Tyr232Asn)
NM_018368.4(LMBRD1):c.73A>G (p.Ile25Val)
NM_018368.4(LMBRD1):c.796A>G (p.Lys266Glu) rs771226867
NM_018368.4(LMBRD1):c.7A>G (p.Thr3Ala)
NM_018368.4(LMBRD1):c.802G>A (p.Ala268Thr) rs143758103
NM_018368.4(LMBRD1):c.830G>A (p.Arg277Gln)
NM_018368.4(LMBRD1):c.867T>A (p.Ile289=)
NM_018368.4(LMBRD1):c.88T>C (p.Trp30Arg) rs1582168492
NM_018368.4(LMBRD1):c.897C>T (p.Gly299=) rs757392138
NM_018368.4(LMBRD1):c.905G>A (p.Arg302His) rs142962811
NM_018368.4(LMBRD1):c.907C>A (p.Pro303Thr)
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.1040C>A (p.Thr347Asn)
NM_020166.5(MCCC1):c.1048A>G (p.Ile350Val)
NM_020166.5(MCCC1):c.1067T>C (p.Val356Ala)
NM_020166.5(MCCC1):c.1115A>C (p.Gln372Pro)
NM_020166.5(MCCC1):c.1140T>G (p.His380Gln)
NM_020166.5(MCCC1):c.1147G>A (p.Glu383Lys)
NM_020166.5(MCCC1):c.1153A>G (p.Arg385Gly) rs1553854969
NM_020166.5(MCCC1):c.1216T>C (p.Ser406Pro)
NM_020166.5(MCCC1):c.1222C>T (p.Pro408Ser) rs1560224165
NM_020166.5(MCCC1):c.1223C>T (p.Pro408Leu) rs1577276072
NM_020166.5(MCCC1):c.1259T>C (p.Val420Ala)
NM_020166.5(MCCC1):c.1261C>T (p.Arg421Trp) rs764744442
NM_020166.5(MCCC1):c.1268-7A>G
NM_020166.5(MCCC1):c.1270G>A (p.Asp424Asn)
NM_020166.5(MCCC1):c.1281C>T (p.Ser427=) rs763713221
NM_020166.5(MCCC1):c.1282G>A (p.Val428Met)
NM_020166.5(MCCC1):c.1302T>G (p.Ile434Met) rs376289130
NM_020166.5(MCCC1):c.1303G>A (p.Ala435Thr) rs142507365
NM_020166.5(MCCC1):c.1304C>T (p.Ala435Val) rs1232970567
NM_020166.5(MCCC1):c.130G>T (p.Ala44Ser)
NM_020166.5(MCCC1):c.130_131delinsTT (p.Ala44Phe) rs1553868919
NM_020166.5(MCCC1):c.131C>T (p.Ala44Val) rs200673204
NM_020166.5(MCCC1):c.1331G>A (p.Arg444His) rs768785753
NM_020166.5(MCCC1):c.1337C>T (p.Ala446Val) rs144182725
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.1366C>T (p.Arg456Cys)
NM_020166.5(MCCC1):c.1367G>A (p.Arg456His)
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.1427A>T (p.His476Leu)
NM_020166.5(MCCC1):c.1444G>A (p.Gly482Arg)
NM_020166.5(MCCC1):c.144C>T (p.Asn48=) rs77681010
NM_020166.5(MCCC1):c.1475A>G (p.His492Arg)
NM_020166.5(MCCC1):c.1492C>T (p.Leu498Phe) rs139926581
NM_020166.5(MCCC1):c.1554G>A (p.Lys518=)
NM_020166.5(MCCC1):c.1561G>A (p.Ala521Thr) rs149957640
NM_020166.5(MCCC1):c.1565T>C (p.Met522Thr)
NM_020166.5(MCCC1):c.1570G>A (p.Asp524Asn)
NM_020166.5(MCCC1):c.1595A>G (p.Asp532Gly) rs756076414
NM_020166.5(MCCC1):c.161T>C (p.Ile54Thr) rs796051987
NM_020166.5(MCCC1):c.1632A>C (p.Arg544Ser) rs1553853001
NM_020166.5(MCCC1):c.1644G>A (p.Ser548=)
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) rs1577245387
NM_020166.5(MCCC1):c.1705A>T (p.Asn569Tyr)
NM_020166.5(MCCC1):c.1709A>G (p.His570Arg)
NM_020166.5(MCCC1):c.1715G>C (p.Gly572Ala)
NM_020166.5(MCCC1):c.1722T>C (p.Tyr574=)
NM_020166.5(MCCC1):c.1724G>A (p.Ser575Asn) rs886058206
NM_020166.5(MCCC1):c.1730A>G (p.Gln577Arg) rs749473644
NM_020166.5(MCCC1):c.1731+6C>A rs369754994
NM_020166.5(MCCC1):c.1768T>C (p.Tyr590His)
NM_020166.5(MCCC1):c.1773C>T (p.Ser591=) rs200651846
NM_020166.5(MCCC1):c.1792C>A (p.Leu598Met) rs138480247
NM_020166.5(MCCC1):c.1808A>G (p.Asn603Ser)
NM_020166.5(MCCC1):c.1839C>A (p.Ile613=) rs201782543
NM_020166.5(MCCC1):c.1842G>A (p.Leu614=)
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.1994G>A (p.Gly665Glu) rs903196916
NM_020166.5(MCCC1):c.2009C>T (p.Ala670Val)
NM_020166.5(MCCC1):c.2024T>C (p.Met675Thr)
NM_020166.5(MCCC1):c.2030T>G (p.Met677Arg) rs1553849443
NM_020166.5(MCCC1):c.2035G>A (p.Ala679Thr)
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.2056A>G (p.Ile686Val)
NM_020166.5(MCCC1):c.2088dup (p.Val697fs) rs746267545
NM_020166.5(MCCC1):c.2089G>A (p.Val697Met)
NM_020166.5(MCCC1):c.208A>G (p.Lys70Glu)
NM_020166.5(MCCC1):c.2123dup (p.His708fs) rs1404350628
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) rs1577363370
NM_020166.5(MCCC1):c.247G>C (p.Asp83His)
NM_020166.5(MCCC1):c.254A>C (p.Asn85Thr) rs148616219
NM_020166.5(MCCC1):c.256T>C (p.Ser86Pro)
NM_020166.5(MCCC1):c.272T>C (p.Met91Thr)
NM_020166.5(MCCC1):c.280G>A (p.Glu94Lys)
NM_020166.5(MCCC1):c.294C>T (p.Ile98=) rs368288499
NM_020166.5(MCCC1):c.295G>A (p.Gly99Ser) rs375244642
NM_020166.5(MCCC1):c.295G>C (p.Gly99Arg) rs375244642
NM_020166.5(MCCC1):c.300C>G (p.Pro100=) rs747409426
NM_020166.5(MCCC1):c.310C>A (p.Gln104Lys)
NM_020166.5(MCCC1):c.314A>G (p.Gln105Arg)
NM_020166.5(MCCC1):c.320A>G (p.Tyr107Cys) rs144872258
NM_020166.5(MCCC1):c.328A>G (p.Met110Val)
NM_020166.5(MCCC1):c.350C>A (p.Ala117Asp) rs754963220
NM_020166.5(MCCC1):c.359C>T (p.Ser120Phe) rs1307589698
NM_020166.5(MCCC1):c.362C>T (p.Ala121Val)
NM_020166.5(MCCC1):c.370-16T>G
NM_020166.5(MCCC1):c.373A>G (p.Ile125Val)
NM_020166.5(MCCC1):c.387C>T (p.Cys129=)
NM_020166.5(MCCC1):c.388G>A (p.Gly130Ser) rs202197951
NM_020166.5(MCCC1):c.428A>T (p.Lys143Met)
NM_020166.5(MCCC1):c.455C>T (p.Pro152Leu)
NM_020166.5(MCCC1):c.492-4A>G
NM_020166.5(MCCC1):c.530T>C (p.Val177Ala)
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.596G>T (p.Gly199Val)
NM_020166.5(MCCC1):c.608T>C (p.Met203Thr)
NM_020166.5(MCCC1):c.623G>A (p.Arg208Gln) rs780352053
NM_020166.5(MCCC1):c.626G>A (p.Gly209Asp) rs186209189
NM_020166.5(MCCC1):c.635G>C (p.Gly212Ala) rs749287771
NM_020166.5(MCCC1):c.639+13A>G rs140342772
NM_020166.5(MCCC1):c.640_641delGG rs886058209
NM_020166.5(MCCC1):c.641G>A (p.Gly214Glu) rs1248070890
NM_020166.5(MCCC1):c.694C>T (p.Arg232Trp) rs727504004
NM_020166.5(MCCC1):c.711G>T (p.Lys237Asn)
NM_020166.5(MCCC1):c.71G>C (p.Ser24Thr)
NM_020166.5(MCCC1):c.729T>C (p.Ala243=) rs886058208
NM_020166.5(MCCC1):c.730A>G (p.Met244Val)
NM_020166.5(MCCC1):c.758C>T (p.Pro253Leu) rs202083272
NM_020166.5(MCCC1):c.762G>C (p.Arg254Ser)
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.829A>G (p.Ser277Gly)
NM_020166.5(MCCC1):c.83C>T (p.Pro28Leu) rs1164035251
NM_020166.5(MCCC1):c.842G>A (p.Arg281Gln) rs754437245
NM_020166.5(MCCC1):c.848AGA[1] (p.Lys284del)
NM_020166.5(MCCC1):c.860A>G (p.Glu287Gly) rs1267237320
NM_020166.5(MCCC1):c.863A>G (p.Glu288Gly) rs746500530
NM_020166.5(MCCC1):c.873G>A (p.Ala291=) rs138794621
NM_020166.5(MCCC1):c.877G>A (p.Gly293Ser)
NM_020166.5(MCCC1):c.898A>G (p.Lys300Glu)
NM_020166.5(MCCC1):c.918A>C (p.Ala306=)
NM_020166.5(MCCC1):c.950G>C (p.Gly317Ala) rs1577295874
NM_020166.5(MCCC1):c.984A>T (p.Lys328Asn) rs142513139
NM_020166.5(MCCC1):c.994T>G (p.Cys332Gly) rs886058207
NM_020166.5(MCCC1):c.9G>A (p.Ala3=)
NM_022132.4(MCCC2):c.1367_1368inv (p.Ala456Val)
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.*6A>G
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.1010G>C (p.Arg337Thr)
NM_022132.5(MCCC2):c.1043A>G (p.Lys348Arg) rs759809368
NM_022132.5(MCCC2):c.1108G>A (p.Val370Ile)
NM_022132.5(MCCC2):c.1120G>A (p.Gly374Arg)
NM_022132.5(MCCC2):c.1124T>C (p.Val375Ala)
NM_022132.5(MCCC2):c.114C>G (p.Gly38=) rs750638270
NM_022132.5(MCCC2):c.1171T>C (p.Cys391Arg)
NM_022132.5(MCCC2):c.1181G>T (p.Arg394Ile) rs531994517
NM_022132.5(MCCC2):c.1206A>G (p.Gln402=)
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.125A>G (p.Tyr42Cys) rs1580262373
NM_022132.5(MCCC2):c.1273A>G (p.Met425Val) rs766591766
NM_022132.5(MCCC2):c.1275G>A (p.Met425Ile)
NM_022132.5(MCCC2):c.1282G>A (p.Ala428Thr) rs371374378
NM_022132.5(MCCC2):c.129+3A>G
NM_022132.5(MCCC2):c.129G>A (p.Gln43=) rs1580262388
NM_022132.5(MCCC2):c.1300G>C (p.Val434Leu)
NM_022132.5(MCCC2):c.1309A>G (p.Ile437Val) rs119103224
NM_022132.5(MCCC2):c.1313C>A (p.Thr438Asn)
NM_022132.5(MCCC2):c.1322T>C (p.Ile441Thr) rs139852818
NM_022132.5(MCCC2):c.1344A>G (p.Gly448=)
NM_022132.5(MCCC2):c.1374-10C>T rs766032118
NM_022132.5(MCCC2):c.137A>G (p.Tyr46Cys)
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.1438A>G (p.Asn480Asp)
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.1474C>T (p.Arg492Trp)
NM_022132.5(MCCC2):c.1488+10del
NM_022132.5(MCCC2):c.1488+3C>T rs374049769
NM_022132.5(MCCC2):c.1488G>C (p.Gln496His)
NM_022132.5(MCCC2):c.1501G>A (p.Asp501Asn)
NM_022132.5(MCCC2):c.1504G>C (p.Glu502Gln) rs767326357
NM_022132.5(MCCC2):c.1545G>C (p.Glu515Asp)
NM_022132.5(MCCC2):c.1553A>G (p.Asn518Ser)
NM_022132.5(MCCC2):c.1559A>C (p.Tyr520Ser) rs150327768
NM_022132.5(MCCC2):c.1565C>T (p.Ser522Phe)
NM_022132.5(MCCC2):c.1572A>T (p.Ala524=) rs886060738
NM_022132.5(MCCC2):c.1574+5G>A
NM_022132.5(MCCC2):c.1574+5G>T
NM_022132.5(MCCC2):c.1583A>G (p.Asp528Gly)
NM_022132.5(MCCC2):c.162T>C (p.Asn54=) rs774812912
NM_022132.5(MCCC2):c.1635dup (p.Ser546Ter) rs768272570
NM_022132.5(MCCC2):c.1639G>A (p.Ala547Thr)
NM_022132.5(MCCC2):c.1640C>T (p.Ala547Val) rs778172446
NM_022132.5(MCCC2):c.1653A>G (p.Ala551=)
NM_022132.5(MCCC2):c.1657A>G (p.Ile553Val) rs143156315
NM_022132.5(MCCC2):c.1663A>G (p.Lys555Glu)
NM_022132.5(MCCC2):c.1665G>T (p.Lys555Asn)
NM_022132.5(MCCC2):c.1674C>T (p.Phe558=)
NM_022132.5(MCCC2):c.1674del (p.Phe558fs)
NM_022132.5(MCCC2):c.1690T>C (p.Ter564Gln) rs751970792
NM_022132.5(MCCC2):c.185A>G (p.His62Arg)
NM_022132.5(MCCC2):c.196+3A>G
NM_022132.5(MCCC2):c.226A>T (p.Ile76Leu)
NM_022132.5(MCCC2):c.248C>G (p.Pro83Arg)
NM_022132.5(MCCC2):c.250A>G (p.Arg84Gly)
NM_022132.5(MCCC2):c.258A>G (p.Arg86=)
NM_022132.5(MCCC2):c.286C>G (p.Pro96Ala)
NM_022132.5(MCCC2):c.295G>A (p.Glu99Lys) rs119103219
NM_022132.5(MCCC2):c.326A>G (p.Tyr109Cys)
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.385G>A (p.Val129Ile)
NM_022132.5(MCCC2):c.417C>T (p.Thr139=)
NM_022132.5(MCCC2):c.430G>T (p.Ala144Ser) rs1468231692
NM_022132.5(MCCC2):c.433T>C (p.Tyr145His)
NM_022132.5(MCCC2):c.436T>G (p.Tyr146Asp) rs1402663229
NM_022132.5(MCCC2):c.438C>T (p.Tyr146=)
NM_022132.5(MCCC2):c.450G>C (p.Val150=) rs151098534
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) rs1580281124
NM_022132.5(MCCC2):c.557_560delinsTTGTCGAGGTAAGTGT (p.Pro186_Asp187delinsLeuValGluValSerVal) rs797044772
NM_022132.5(MCCC2):c.568C>T (p.His190Tyr) rs773774134
NM_022132.5(MCCC2):c.577C>T (p.Arg193Cys) rs547662164
NM_022132.5(MCCC2):c.578G>A (p.Arg193His)
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.617T>C (p.Ile206Thr)
NM_022132.5(MCCC2):c.637A>G (p.Met213Val)
NM_022132.5(MCCC2):c.641G>C (p.Gly214Ala) rs277995
NM_022132.5(MCCC2):c.650C>T (p.Thr217Ile)
NM_022132.5(MCCC2):c.653C>T (p.Ala218Val) rs760420191
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.701G>A (p.Arg234His)
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.738+9A>G rs776559643
NM_022132.5(MCCC2):c.746C>T (p.Ala249Val)
NM_022132.5(MCCC2):c.775G>T (p.Asp259Tyr)
NM_022132.5(MCCC2):c.794T>C (p.Leu265Pro)
NM_022132.5(MCCC2):c.815T>G (p.Val272Gly) rs1199145486
NM_022132.5(MCCC2):c.851T>C (p.Leu284Pro)
NM_022132.5(MCCC2):c.864G>A (p.Arg288=) rs368236133
NM_022132.5(MCCC2):c.884A>G (p.Asn295Ser)
NM_022132.5(MCCC2):c.90G>T (p.Ser30=) rs559384926
NM_022132.5(MCCC2):c.914A>G (p.Glu305Gly)
NM_022132.5(MCCC2):c.955G>A (p.Gly319Arg)
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_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.-7C>G rs199590627
NM_025136.4(OPA3):c.123C>G (p.Ile41Met)
NM_025136.4(OPA3):c.142+2_142+3dup rs1555736791
NM_025136.4(OPA3):c.142+5G>C rs1250409781
NM_025136.4(OPA3):c.15G>C (p.Ala5=)
NM_025136.4(OPA3):c.182T>C (p.Met61Thr)
NM_025136.4(OPA3):c.248_251dup (p.Gly85fs) rs1555732942
NM_025136.4(OPA3):c.2TGG[2] (p.Val3del) rs1555736840
NM_025136.4(OPA3):c.305_322dup (p.Gln108_Arg109insArgArgHisGlnAlaGln) rs1599964564
NM_025136.4(OPA3):c.331_333del (p.Lys111del) rs1353357190
NM_025136.4(OPA3):c.334del (p.Glu112fs) rs1555732911
NM_025136.4(OPA3):c.367C>T (p.Arg123Trp)
NM_025136.4(OPA3):c.410A>C (p.Gln137Pro)
NM_025136.4(OPA3):c.416A>G (p.Gln139Arg)
NM_025136.4(OPA3):c.419_424dup (p.Val140_Gln141dup) rs1363616568
NM_025136.4(OPA3):c.428C>T (p.Ala143Val)
NM_025136.4(OPA3):c.431C>A (p.Pro144Gln)
NM_025136.4(OPA3):c.431del (p.Pro144fs) rs1205708262
NM_025136.4(OPA3):c.444C>T (p.Ala148=) rs759536853
NM_025136.4(OPA3):c.470_478del (p.Gln157_Val159del) rs745544229
NM_025136.4(OPA3):c.487C>T (p.Leu163Phe) rs780492515
NM_025136.4(OPA3):c.532A>G (p.Lys178Glu) rs767372876
NM_025136.4(OPA3):c.77G>T (p.Arg26Leu)
NM_025136.4(OPA3):c.94C>A (p.Arg32Ser)
NM_030943.4(AMN):c.1324G>A (p.Val442Ile)
NM_032601.4(MCEE):c.*64A>C
NM_032601.4(MCEE):c.102C>G (p.Pro34=) rs146573280
NM_032601.4(MCEE):c.10G>T (p.Val4Leu) rs202194538
NM_032601.4(MCEE):c.136G>A (p.Gly46Ser) rs772033573
NM_032601.4(MCEE):c.164T>C (p.Val55Ala)
NM_032601.4(MCEE):c.226_227delinsAT (p.Ala76Met)
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.311G>A (p.Arg104His) rs6748672
NM_032601.4(MCEE):c.312T>G (p.Arg104=) rs142838031
NM_032601.4(MCEE):c.345C>A (p.Asn115Lys)
NM_032601.4(MCEE):c.352G>C (p.Gly118Arg)
NM_032601.4(MCEE):c.368T>A (p.Ile123Asn) rs886056277
NM_032601.4(MCEE):c.376G>A (p.Glu126Lys)
NM_032601.4(MCEE):c.3G>A (p.Met1Ile)
NM_032601.4(MCEE):c.41-9A>G
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_032861.4(SERAC1):c.1016-5A>G
NM_032861.4(SERAC1):c.1084A>T (p.Ile362Phe) rs537530231
NM_032861.4(SERAC1):c.1270A>G (p.Met424Val)
NM_032861.4(SERAC1):c.1292C>T (p.Thr431Met)
NM_032861.4(SERAC1):c.1295C>T (p.Thr432Met)
NM_032861.4(SERAC1):c.1364C>G (p.Thr455Ser)
NM_032861.4(SERAC1):c.1375G>A (p.Asp459Asn)
NM_032861.4(SERAC1):c.1404-3C>G
NM_032861.4(SERAC1):c.1538C>T (p.Thr513Met)
NM_032861.4(SERAC1):c.1577G>A (p.Gly526Glu) rs1554261079
NM_032861.4(SERAC1):c.1640G>A (p.Arg547His)
NM_032861.4(SERAC1):c.1660T>G (p.Leu554Val)
NM_032861.4(SERAC1):c.1688C>G (p.Ser563Cys)
NM_032861.4(SERAC1):c.1762G>A (p.Val588Met)
NM_032861.4(SERAC1):c.1763del (p.Val588fs)
NM_032861.4(SERAC1):c.1765G>A (p.Glu589Lys) rs1020569740
NM_032861.4(SERAC1):c.1823dup (p.Ala609fs)
NM_032861.4(SERAC1):c.1828+3A>G
NM_032861.4(SERAC1):c.203G>A (p.Arg68Gln)
NM_032861.4(SERAC1):c.21C>G (p.Cys7Trp) rs139301835
NM_032861.4(SERAC1):c.391T>C (p.Cys131Arg) rs147085187
NM_032861.4(SERAC1):c.413G>A (p.Arg138Gln) rs863224200
NM_032861.4(SERAC1):c.418A>G (p.Ser140Gly)
NM_032861.4(SERAC1):c.488-3T>G
NM_032861.4(SERAC1):c.524C>T (p.Pro175Leu)
NM_032861.4(SERAC1):c.568C>T (p.Arg190Cys) rs564717592
NM_032861.4(SERAC1):c.660A>G (p.Gln220=) rs776026202
NM_032861.4(SERAC1):c.674A>G (p.Glu225Gly) rs375757326
NM_032861.4(SERAC1):c.91A>G (p.Arg31Gly) rs146896149
NM_032861.4(SERAC1):c.92-13_92-10del rs779302645
NM_032861.4(SERAC1):c.931T>C (p.Cys311Arg)
NM_032861.4(SERAC1):c.932G>T (p.Cys311Phe)
NM_032861.4(SERAC1):c.935C>T (p.Pro312Leu)
NM_052845.3(MMAB):c.-69G>A rs886048928
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.116G>A (p.Gly39Asp)
NM_052845.4(MMAB):c.14G>A (p.Gly5Asp)
NM_052845.4(MMAB):c.150G>A (p.Ser50=) rs754357121
NM_052845.4(MMAB):c.158C>T (p.Pro53Leu)
NM_052845.4(MMAB):c.161G>A (p.Arg54Lys)
NM_052845.4(MMAB):c.184A>G (p.Thr62Ala)
NM_052845.4(MMAB):c.19GGGAGCCGTCTTGGCCTG[1] (p.7GSRLGL[1]) rs770077320
NM_052845.4(MMAB):c.206G>C (p.Ser69Thr)
NM_052845.4(MMAB):c.247T>C (p.Phe83Leu)
NM_052845.4(MMAB):c.248T>C (p.Phe83Ser)
NM_052845.4(MMAB):c.254C>T (p.Ala85Val)
NM_052845.4(MMAB):c.256G>A (p.Val86Met)
NM_052845.4(MMAB):c.298C>T (p.Leu100=)
NM_052845.4(MMAB):c.316A>G (p.Lys106Glu) rs765917146
NM_052845.4(MMAB):c.333C>T (p.Ala111=) rs769385276
NM_052845.4(MMAB):c.339G>C (p.Glu113Asp)
NM_052845.4(MMAB):c.349-10C>T rs896742047
NM_052845.4(MMAB):c.349-9G>A
NM_052845.4(MMAB):c.370G>A (p.Val124Ile)
NM_052845.4(MMAB):c.372C>T (p.Val124=)
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.378G>A (p.Ser126=)
NM_052845.4(MMAB):c.387G>A (p.Ala129=) rs549807022
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.401C>T (p.Ser134Leu)
NM_052845.4(MMAB):c.402G>A (p.Ser134=) rs756766385
NM_052845.4(MMAB):c.406C>A (p.Arg136=) rs763783083
NM_052845.4(MMAB):c.41G>A (p.Ser14Asn)
NM_052845.4(MMAB):c.424T>C (p.Tyr142His) rs886198506
NM_052845.4(MMAB):c.444G>A (p.Gly148=) rs117269384
NM_052845.4(MMAB):c.44G>A (p.Arg15His)
NM_052845.4(MMAB):c.503C>T (p.Thr168Met)
NM_052845.4(MMAB):c.516G>T (p.Leu172=) rs914000089
NM_052845.4(MMAB):c.521C>T (p.Ser174Leu) rs140881518
NM_052845.4(MMAB):c.522G>A (p.Ser174=) rs545625368
NM_052845.4(MMAB):c.539C>T (p.Ser180Leu)
NM_052845.4(MMAB):c.541G>A (p.Ala181Thr) rs1439180009
NM_052845.4(MMAB):c.542C>T (p.Ala181Val) rs764164596
NM_052845.4(MMAB):c.548A>T (p.His183Leu) rs752866643
NM_052845.4(MMAB):c.554G>A (p.Cys185Tyr)
NM_052845.4(MMAB):c.557G>A (p.Arg186Gln) rs773059864
NM_052845.4(MMAB):c.561C>T (p.Ala187=) rs370773720
NM_052845.4(MMAB):c.562G>A (p.Val188Met) rs768176676
NM_052845.4(MMAB):c.563_577del (p.Val188_Ala192del)
NM_052845.4(MMAB):c.569G>A (p.Arg190His) rs756414548
NM_052845.4(MMAB):c.576C>T (p.Ala192=)
NM_052845.4(MMAB):c.577G>A (p.Glu193Lys) rs749758687
NM_052845.4(MMAB):c.57C>T (p.Arg19=) rs10774774
NM_052845.4(MMAB):c.583C>T (p.Arg195Cys) rs199853576
NM_052845.4(MMAB):c.584+15G>A rs750655720
NM_052845.4(MMAB):c.584+6A>G
NM_052845.4(MMAB):c.589G>T (p.Val197Leu)
NM_052845.4(MMAB):c.593C>T (p.Pro198Leu) rs886048927
NM_052845.4(MMAB):c.620C>T (p.Ala207Val) rs61739388
NM_052845.4(MMAB):c.625G>A (p.Val209Met) rs200903284
NM_052845.4(MMAB):c.644+7G>A rs147637814
NM_052845.4(MMAB):c.654C>G (p.Asp218Glu)
NM_052845.4(MMAB):c.656A>G (p.Tyr219Cys) rs765547005
NM_052845.4(MMAB):c.665C>T (p.Thr222Met)
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_052845.4(MMAB):c.99G>A (p.Gln33=) rs749127574
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_145261.4(DNAJC19):c.1A>G (p.Met1Val) rs372756221
NM_145261.4(DNAJC19):c.259C>T (p.Leu87Phe)
NM_145261.4(DNAJC19):c.295A>G (p.Ile99Val)
NM_145261.4(DNAJC19):c.32C>T (p.Thr11Ile)
NM_145261.4(DNAJC19):c.344A>G (p.Lys115Arg)
NM_145261.4(DNAJC19):c.348del (p.Lys116fs)
NM_145261.4(DNAJC19):c.59G>A (p.Arg20His) rs756192515
NM_145261.4(DNAJC19):c.62A>T (p.Tyr21Phe) rs752913622
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.-4G>A
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.1044A>C (p.Leu348=)
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.1078C>T (p.Arg360Trp) rs6812252
NM_172250.3(MMAA):c.1099A>G (p.Met367Val)
NM_172250.3(MMAA):c.1114del (p.Gln372fs) rs765726949
NM_172250.3(MMAA):c.1121G>A (p.Ser374Asn) rs778178659
NM_172250.3(MMAA):c.1135T>C (p.Phe379Leu)
NM_172250.3(MMAA):c.1142C>T (p.Thr381Ile) rs1057520160
NM_172250.3(MMAA):c.1157G>A (p.Arg386Gln)
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.129G>A (p.Pro43=) rs779779664
NM_172250.3(MMAA):c.175G>C (p.Asp59His) rs371779800
NM_172250.3(MMAA):c.208A>C (p.Thr70Pro)
NM_172250.3(MMAA):c.269A>T (p.Tyr90Phe)
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.347A>G (p.Lys116Arg)
NM_172250.3(MMAA):c.367C>T (p.Leu123Phe)
NM_172250.3(MMAA):c.373A>G (p.Lys125Glu)
NM_172250.3(MMAA):c.383T>C (p.Leu128Pro) rs560188002
NM_172250.3(MMAA):c.393A>T (p.Arg131Ser)
NM_172250.3(MMAA):c.400G>C (p.Glu134Gln)
NM_172250.3(MMAA):c.439+4_439+7del rs1553957939
NM_172250.3(MMAA):c.440-4G>A
NM_172250.3(MMAA):c.440-6C>T
NM_172250.3(MMAA):c.508_509insAGG (p.Arg170delinsLysGly) rs1553958153
NM_172250.3(MMAA):c.562+4A>C
NM_172250.3(MMAA):c.587G>A (p.Arg196Gln) rs144389160
NM_172250.3(MMAA):c.630A>G (p.Pro210=) rs374347679
NM_172250.3(MMAA):c.65G>T (p.Arg22Leu)
NM_172250.3(MMAA):c.676G>A (p.Glu226Lys)
NM_172250.3(MMAA):c.67T>C (p.Cys23Arg)
NM_172250.3(MMAA):c.718C>G (p.Leu240Val)
NM_172250.3(MMAA):c.722T>C (p.Ile241Thr)
NM_172250.3(MMAA):c.734-7A>G
NM_172250.3(MMAA):c.746C>T (p.Ser249Leu)
NM_172250.3(MMAA):c.800C>T (p.Ala267Val) rs138854691
NM_172250.3(MMAA):c.824T>C (p.Ile275Thr)
NM_172250.3(MMAA):c.833G>A (p.Gly278Asp) rs761964238
NM_172250.3(MMAA):c.850G>C (p.Asp284His)
NM_172250.3(MMAA):c.862G>A (p.Val288Ile) rs886059089
NM_172250.3(MMAA):c.86A>G (p.His29Arg)
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.928C>G (p.Leu310Val)
NM_172250.3(MMAA):c.92G>A (p.Ser31Asn)