ClinVar Miner

List of variants reported as uncertain significance for classic organic aciduria by Invitae

Included ClinVar conditions (39):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 925
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HGVS dbSNP
NC_000001.11:g.(?_23825336)_(23825435_?)del
NC_000001.11:g.(?_45507336)_(45509235_?)dup
NC_000006.11:g.(?_49407899)_(49427199_?)dup
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_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.1006-10_1006-9ins171
NM_000019.4(ACAT1):c.1003A>G (p.Met335Val)
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.1198C>T (p.His400Tyr) rs201183545
NM_000019.4(ACAT1):c.1199A>G (p.His400Arg) rs761086326
NM_000019.4(ACAT1):c.1217A>G (p.Glu406Gly) rs147872303
NM_000019.4(ACAT1):c.1253G>A (p.Gly418Asp) rs886042080
NM_000019.4(ACAT1):c.1253_1255dup (p.Gly418dup)
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.248AAG[2] (p.Glu85del) rs866364527
NM_000019.4(ACAT1):c.274G>A (p.Gly92Ser) rs1591362402
NM_000019.4(ACAT1):c.34G>A (p.Ala12Thr)
NM_000019.4(ACAT1):c.418C>T (p.Leu140Phe)
NM_000019.4(ACAT1):c.433C>G (p.Gln145Glu) rs120074148
NM_000019.4(ACAT1):c.5C>T (p.Ala2Val)
NM_000019.4(ACAT1):c.622C>G (p.Arg208Gly) rs532190594
NM_000019.4(ACAT1):c.709C>A (p.Pro237Thr)
NM_000019.4(ACAT1):c.770A>C (p.Lys257Thr) rs370652435
NM_000019.4(ACAT1):c.816G>T (p.Gln272His)
NM_000019.4(ACAT1):c.854C>T (p.Thr285Ile) rs1239221388
NM_000019.4(ACAT1):c.967A>G (p.Ile323Val) rs1282394804
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.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.331C>T (p.His111Tyr) rs200405157
NM_000116.5(TAFAZZIN):c.334T>C (p.Phe112Leu)
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.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.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.151G>A (p.Val51Ile)
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.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.409A>G (p.Lys137Glu)
NM_000191.3(HMGCL):c.419A>G (p.Asn140Ser)
NM_000191.3(HMGCL):c.470C>T (p.Ala157Val) rs147752765
NM_000191.3(HMGCL):c.498-10C>A rs373505626
NM_000191.3(HMGCL):c.502G>A (p.Val168Ile) rs759288306
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.649A>G (p.Met217Val)
NM_000191.3(HMGCL):c.651G>T (p.Met217Ile)
NM_000191.3(HMGCL):c.751-10_751-9del
NM_000191.3(HMGCL):c.751-3T>C
NM_000191.3(HMGCL):c.766G>A (p.Val256Met)
NM_000191.3(HMGCL):c.76A>T (p.Met26Leu)
NM_000191.3(HMGCL):c.800C>A (p.Pro267His) rs750347526
NM_000191.3(HMGCL):c.814G>T (p.Ala272Ser)
NM_000191.3(HMGCL):c.89C>T (p.Pro30Leu)
NM_000191.3(HMGCL):c.945C>G (p.Ser315Arg) rs1557484629
NM_000191.3(HMGCL):c.94C>T (p.Arg32Trp)
NM_000255.4(MMUT):c.1115T>C (p.Ile372Thr) rs150968643
NM_000255.4(MMUT):c.1261G>A (p.Val421Met)
NM_000255.4(MMUT):c.1324G>C (p.Ala442Pro) rs1554159871
NM_000255.4(MMUT):c.1332+3A>C rs367641890
NM_000255.4(MMUT):c.1355T>A (p.Met452Lys) rs760718889
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.1501G>C (p.Glu501Gln)
NM_000255.4(MMUT):c.1532G>A (p.Arg511Gln)
NM_000255.4(MMUT):c.1659G>A (p.Val553=)
NM_000255.4(MMUT):c.1763G>T (p.Arg588Leu)
NM_000255.4(MMUT):c.1777G>C (p.Glu593Gln) rs148285323
NM_000255.4(MMUT):c.1865T>C (p.Met622Thr) rs201536536
NM_000255.4(MMUT):c.2196_2197insCGGCA (p.Val733fs)
NM_000255.4(MMUT):c.241T>A (p.Leu81Ile)
NM_000255.4(MMUT):c.296T>C (p.Met99Thr)
NM_000255.4(MMUT):c.395A>T (p.Gln132Leu) rs766605891
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.694_700delinsCTTTTTT (p.Ile232_Pro234delinsLeuPheSer) rs1581834738
NM_000255.4(MMUT):c.836A>G (p.Tyr279Cys) rs2228282
NM_000255.4(MMUT):c.911G>A (p.Arg304Lys)
NM_000282.4(PCCA):c.1007A>G (p.Glu336Gly)
NM_000282.4(PCCA):c.1065+5C>T rs201597816
NM_000282.4(PCCA):c.1195C>T (p.Arg399Trp) rs1234167788
NM_000282.4(PCCA):c.1275T>G (p.His425Gln)
NM_000282.4(PCCA):c.1342A>G (p.Met448Val) rs767060690
NM_000282.4(PCCA):c.1519G>A (p.Val507Met)
NM_000282.4(PCCA):c.1651G>A (p.Val551Ile)
NM_000282.4(PCCA):c.177T>A (p.Asn59Lys)
NM_000282.4(PCCA):c.183+4_183+7del rs1555342581
NM_000282.4(PCCA):c.1886T>G (p.Phe629Cys)
NM_000282.4(PCCA):c.1919C>G (p.Thr640Ser) rs1594099709
NM_000282.4(PCCA):c.1933G>A (p.Glu645Lys)
NM_000282.4(PCCA):c.202G>A (p.Val68Ile) rs768750176
NM_000282.4(PCCA):c.2101G>C (p.Ala701Pro)
NM_000282.4(PCCA):c.2129_2130del (p.Val710fs) rs1317003529
NM_000282.4(PCCA):c.2155G>A (p.Gly719Arg)
NM_000282.4(PCCA):c.2162_2163insAG (p.Asp722fs) rs749875940
NM_000282.4(PCCA):c.287T>C (p.Val96Ala)
NM_000282.4(PCCA):c.2T>C (p.Met1Thr) rs372093520
NM_000282.4(PCCA):c.415G>A (p.Val139Ile)
NM_000282.4(PCCA):c.522G>A (p.Met174Ile) rs780406346
NM_000282.4(PCCA):c.590G>C (p.Gly197Ala) rs766245108
NM_000282.4(PCCA):c.688C>T (p.Arg230Cys) rs778530330
NM_000282.4(PCCA):c.782A>G (p.Glu261Gly) rs1169861687
NM_000282.4(PCCA):c.803G>A (p.Arg268His) rs368047060
NM_000282.4(PCCA):c.819+9A>G rs372739944
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.904G>C (p.Glu302Gln)
NM_000282.4(PCCA):c.915-8A>G
NM_000282.4(PCCA):c.915C>G (p.Ser305Arg) rs768758704
NM_000282.4(PCCA):c.929C>T (p.Ala310Val) rs146927771
NM_000282.4(PCCA):c.933G>C (p.Glu311Asp)
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.1132G>T (p.Val378Phe)
NM_000532.5(PCCB):c.115A>G (p.Ile39Val)
NM_000532.5(PCCB):c.11_28dup (p.Ala4_Ala9dup) rs777359703
NM_000532.5(PCCB):c.1299G>C (p.Lys433Asn)
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.1481T>C (p.Phe494Ser)
NM_000532.5(PCCB):c.1482C>G (p.Phe494Leu)
NM_000532.5(PCCB):c.1514T>C (p.Ile505Thr)
NM_000532.5(PCCB):c.1535G>A (p.Arg512His)
NM_000532.5(PCCB):c.1555C>G (p.Leu519Val)
NM_000532.5(PCCB):c.1570A>G (p.Ser524Gly) rs1560035695
NM_000532.5(PCCB):c.167A>G (p.Asp56Gly)
NM_000532.5(PCCB):c.16C>T (p.Arg6Trp)
NM_000532.5(PCCB):c.23C>T (p.Ala8Val)
NM_000532.5(PCCB):c.306T>G (p.Phe102Leu)
NM_000532.5(PCCB):c.332G>A (p.Arg111Gln)
NM_000532.5(PCCB):c.38G>A (p.Arg13Lys)
NM_000532.5(PCCB):c.449C>T (p.Thr150Met)
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.543G>C (p.Leu181=) rs777868289
NM_000532.5(PCCB):c.554C>G (p.Thr185Arg)
NM_000532.5(PCCB):c.613G>A (p.Val205Ile)
NM_000532.5(PCCB):c.620C>T (p.Ser207Phe) rs1553777582
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.791A>G (p.Asp264Gly) rs1560017781
NM_000532.5(PCCB):c.818A>T (p.Asp273Val)
NM_000532.5(PCCB):c.82C>G (p.Leu28Val) rs141137691
NM_000532.5(PCCB):c.862G>C (p.Val288Leu) rs201984177
NM_000532.5(PCCB):c.876C>G (p.His292Gln)
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.965C>T (p.Ser322Phe)
NM_000532.5(PCCB):c.988T>G (p.Phe330Val) rs748708704
NM_001017989.3(OPA3):c.464_467dup (p.Gln157fs) rs1599947052
NM_001243279.3(ACSF3):c.1060C>T (p.Arg354Trp)
NM_001243279.3(ACSF3):c.1081G>A (p.Gly361Ser) rs145285434
NM_001243279.3(ACSF3):c.1087G>A (p.Ala363Thr)
NM_001243279.3(ACSF3):c.1121T>C (p.Leu374Pro)
NM_001243279.3(ACSF3):c.122A>T (p.Asp41Val) rs545886514
NM_001243279.3(ACSF3):c.1411C>T (p.Arg471Trp) rs138680796
NM_001243279.3(ACSF3):c.1465G>T (p.Val489Leu)
NM_001243279.3(ACSF3):c.1543C>T (p.Arg515Trp)
NM_001243279.3(ACSF3):c.1553C>A (p.Ala518Asp)
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.358G>A (p.Gly120Ser) rs200703917
NM_001243279.3(ACSF3):c.431C>T (p.Ser144Phe) rs774006659
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.682C>G (p.His228Asp) rs1597898108
NM_001243279.3(ACSF3):c.691G>A (p.Ala231Thr)
NM_001243279.3(ACSF3):c.782G>C (p.Gly261Ala)
NM_001243279.3(ACSF3):c.788C>G (p.Thr263Ser)
NM_001243279.3(ACSF3):c.828G>T (p.Trp276Cys)
NM_001243279.3(ACSF3):c.86G>C (p.Ser29Thr)
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.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.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.1631C>G (p.Ser544Trp)
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.182C>T (p.Ala61Val)
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.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.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_001330174.2(ACADSB):c.-139T>G rs149562178
NM_001330174.2(ACADSB):c.-30A>G rs1375520384
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.1233C>A (p.His411Gln)
NM_001352514.2(HLCS):c.1328T>G (p.Val443Gly) rs778061862
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.1550C>T (p.Thr517Ile) rs575286749
NM_001352514.2(HLCS):c.1843G>C (p.Val615Leu)
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.1954G>C (p.Gly652Arg) rs1555885056
NM_001352514.2(HLCS):c.2036C>A (p.Ser679Tyr) rs777373322
NM_001352514.2(HLCS):c.2121+8C>A
NM_001352514.2(HLCS):c.2135G>A (p.Arg712Gln) rs769446135
NM_001352514.2(HLCS):c.2203A>G (p.Thr735Ala)
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.2313C>G (p.His771Gln)
NM_001352514.2(HLCS):c.2341G>A (p.Asp781Asn) rs149399432
NM_001352514.2(HLCS):c.2345A>G (p.Tyr782Cys)
NM_001352514.2(HLCS):c.2371C>G (p.Leu791Val)
NM_001352514.2(HLCS):c.2416G>A (p.Val806Ile) rs368124997
NM_001352514.2(HLCS):c.2432A>G (p.Tyr811Cys) rs776535574
NM_001352514.2(HLCS):c.2450+1_2450+2del
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.2548G>A (p.Glu850Lys)
NM_001352514.2(HLCS):c.2567C>T (p.Pro856Leu)
NM_001352514.2(HLCS):c.2584G>A (p.Asp862Asn)
NM_001352514.2(HLCS):c.495G>A (p.Ser165=)
NM_001352514.2(HLCS):c.569C>T (p.Pro190Leu)
NM_001352514.2(HLCS):c.581C>T (p.Pro194Leu)
NM_001352514.2(HLCS):c.988C>T (p.Arg330Trp)
NM_001352514.2(HLCS):c.989G>C (p.Arg330Pro)
NM_001370658.1(BTD):c.-38G>A
NM_001370658.1(BTD):c.1042G>A (p.Asp348Asn)
NM_001370658.1(BTD):c.1043A>C (p.Asp348Ala) rs886058115
NM_001370658.1(BTD):c.1076A>G (p.His359Arg)
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.1264G>A (p.Val422Ile) rs776369447
NM_001370658.1(BTD):c.132G>C (p.Glu44Asp) rs397514436
NM_001370658.1(BTD):c.1334G>T (p.Gly445Val)
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.1456C>A (p.Leu486Ile)
NM_001370658.1(BTD):c.1496A>G (p.Tyr499Cys)
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.1553G>T (p.Arg518Leu) rs397514429
NM_001370658.1(BTD):c.1559A>G (p.Tyr520Cys) rs397514431
NM_001370658.1(BTD):c.179A>C (p.Gln60Pro)
NM_001370658.1(BTD):c.249+5G>T
NM_001370658.1(BTD):c.271C>G (p.Pro91Ala) rs1553653070
NM_001370658.1(BTD):c.382C>G (p.Arg128Gly)
NM_001370658.1(BTD):c.385T>C (p.Phe129Leu) rs397514359
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.496T>C (p.Cys166Arg)
NM_001370658.1(BTD):c.522C>G (p.Phe174Leu) rs750363004
NM_001370658.1(BTD):c.545A>G (p.Asn182Ser) rs397514376
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.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.68A>G (p.His23Arg) rs146011150
NM_001370658.1(BTD):c.751G>T (p.Ala251Ser)
NM_001370658.1(BTD):c.754T>G (p.Trp252Gly) rs397514387
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.908A>G (p.His303Arg) rs397507176
NM_001609.3(ACADSB):c.1128+2_1128+3insTA rs1554874107
NM_001609.3(ACADSB):c.1145C>T (p.Thr382Met) rs772084235
NM_001609.3(ACADSB):c.1154G>A (p.Cys385Tyr) rs1370215763
NM_001609.3(ACADSB):c.1168G>A (p.Gly390Arg) rs764095189
NM_001609.3(ACADSB):c.1186A>G (p.Lys396Glu) rs199963793
NM_001609.3(ACADSB):c.1213C>T (p.Arg405Ter) rs200154326
NM_001609.3(ACADSB):c.1271T>C (p.Ile424Thr) rs748926593
NM_001609.3(ACADSB):c.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.42G>A (p.Leu14=) rs745863047
NM_001609.3(ACADSB):c.655G>A (p.Val219Met) rs553730391
NM_001609.3(ACADSB):c.958A>T (p.Ile320Leu) rs1554873785
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.1138C>G (p.Gln380Glu)
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.796G>A (p.Glu266Lys)
NM_001698.2(AUH):c.20C>T (p.Ala7Val) rs863223911
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.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.942+4dup rs1554688047
NM_001698.2(AUH):c.991A>T (p.Lys331Ter) rs387906757
NM_001698.3(AUH):c.197G>T (p.Gly66Val)
NM_001698.3(AUH):c.323T>C (p.Ile108Thr)
NM_001698.3(AUH):c.385A>T (p.Ile129Phe)
NM_001698.3(AUH):c.40T>C (p.Ser14Pro)
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.722G>A (p.Arg241Gln)
NM_001698.3(AUH):c.898G>A (p.Asp300Asn)
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.1138G>C (p.Gly380Arg)
NM_002225.5(IVD):c.1160A>G (p.Asp387Gly) rs1163816425
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.148C>G (p.Arg50Gly) rs34695403
NM_002225.5(IVD):c.17G>A (p.Arg6Gln)
NM_002225.5(IVD):c.233G>C (p.Arg78Pro) rs771929559
NM_002225.5(IVD):c.268T>A (p.Leu90Met) rs780854004
NM_002225.5(IVD):c.307C>G (p.Leu103Val)
NM_002225.5(IVD):c.408G>C (p.Gln136His) rs569537063
NM_002225.5(IVD):c.456G>A (p.Lys152=) rs886044117
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.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.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.796C>G (p.Leu266Val) rs766980574
NM_002225.5(IVD):c.832A>C (p.Ser278Arg) rs552272986
NM_002225.5(IVD):c.848A>G (p.Glu283Gly) rs1314850102
NM_002225.5(IVD):c.865G>A (p.Gly289Arg)
NM_002225.5(IVD):c.865G>T (p.Gly289Trp)
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_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.1352T>C (p.Phe451Ser) rs1594861158
NM_005050.4(ABCD4):c.1402G>A (p.Gly468Arg)
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.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.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.1689G>A (p.Ser563=)
NM_005334.3(HCFC1):c.2626G>A (p.Gly876Ser) rs200053475
NM_005334.3(HCFC1):c.2668G>A (p.Val890Ile)
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.3695G>A (p.Arg1232His) rs201578135
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.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.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.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.712+6C>T
NM_005334.3(HCFC1):c.73delinsCCAC (p.Trp25delinsProArg)
NM_005334.3(HCFC1):c.905-3C>T rs200367055
NM_014362.4(HIBCH):c.1053T>G (p.Ile351Met) rs1575690635
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.794T>C (p.Met265Thr) rs201049927
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.1129G>A (p.Gly377Ser) rs121908419
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.384G>A (p.Met128Ile) rs374317179
NM_014384.2(ACAD8):c.409G>A (p.Gly137Arg) rs371449613
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.643A>G (p.Ile215Val) rs151125742
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.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_014384.3(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.110-6C>T
NM_014384.3(ACAD8):c.1133A>C (p.Tyr378Ser)
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.290G>A (p.Gly97Glu)
NM_014384.3(ACAD8):c.340A>G (p.Thr114Ala)
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.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.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.989G>A (p.Arg330Gln)
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.316G>A (p.Glu106Lys) rs201617713
NM_015506.3(MMACHC):c.319G>A (p.Val107Met)
NM_015506.3(MMACHC):c.354_365del (p.Gln118_Ala121del)
NM_015506.3(MMACHC):c.406G>A (p.Glu136Lys)
NM_015506.3(MMACHC):c.40G>A (p.Asp14Asn) rs563710045
NM_015506.3(MMACHC):c.446G>A (p.Cys149Tyr) rs1161394470
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.506T>C (p.Ile169Thr)
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.572C>T (p.Ala191Val) rs375442063
NM_015506.3(MMACHC):c.584G>C (p.Gly195Ala)
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.733T>C (p.Ser245Pro)
NM_015506.3(MMACHC):c.770C>T (p.Pro257Leu)
NM_015506.3(MMACHC):c.795_*18delinsGTATGGTA (p.Ala266fs)
NM_015506.3(MMACHC):c.800G>A (p.Arg267Gln) rs765822392
NM_015506.3(MMACHC):c.88T>C (p.Trp30Arg) rs745419717
NM_015702.3(MMADHC):c.152T>C (p.Ile51Thr)
NM_015702.3(MMADHC):c.311C>T (p.Ala104Val)
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.557T>C (p.Met186Thr)
NM_015702.3(MMADHC):c.609+6T>C
NM_015702.3(MMADHC):c.737A>G (p.Asp246Gly)
NM_015702.3(MMADHC):c.73G>T (p.Val25Phe)
NM_015702.3(MMADHC):c.764C>G (p.Ser255Cys)
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.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.1510G>T (p.Val504Leu) rs980145400
NM_018368.4(LMBRD1):c.187C>G (p.Leu63Val)
NM_018368.4(LMBRD1):c.368A>G (p.Tyr123Cys)
NM_018368.4(LMBRD1):c.400T>C (p.Cys134Arg) rs1582124917
NM_018368.4(LMBRD1):c.430A>G (p.Thr144Ala) rs12214456
NM_018368.4(LMBRD1):c.562C>T (p.His188Tyr)
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.830G>A (p.Arg277Gln)
NM_018368.4(LMBRD1):c.905G>A (p.Arg302His) rs142962811
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.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.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.130_131delinsTT (p.Ala44Phe) rs1553868919
NM_020166.5(MCCC1):c.1331G>A (p.Arg444His) rs768785753
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.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.1444G>A (p.Gly482Arg)
NM_020166.5(MCCC1):c.1554G>A (p.Lys518=)
NM_020166.5(MCCC1):c.1561G>A (p.Ala521Thr) rs149957640
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.1658T>A (p.Met553Lys) rs774055789
NM_020166.5(MCCC1):c.1703A>G (p.Tyr568Cys) rs1577245387
NM_020166.5(MCCC1):c.1705A>T (p.Asn569Tyr)
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.1808A>G (p.Asn603Ser)
NM_020166.5(MCCC1):c.1942G>A (p.Gly648Ser) rs149017703
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.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.2123dup (p.His708fs) rs1404350628
NM_020166.5(MCCC1):c.245C>G (p.Ala82Gly) rs1577363370
NM_020166.5(MCCC1):c.247G>C (p.Asp83His)
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.295G>A (p.Gly99Ser) rs375244642
NM_020166.5(MCCC1):c.295G>C (p.Gly99Arg) rs375244642
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.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.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.626G>A (p.Gly209Asp) rs186209189
NM_020166.5(MCCC1):c.635G>C (p.Gly212Ala) rs749287771
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.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.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.950G>C (p.Gly317Ala) rs1577295874
NM_020166.5(MCCC1):c.984A>T (p.Lys328Asn) rs142513139
NM_022132.4(MCCC2):c.1367_1368inv (p.Ala456Val)
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.1124T>C (p.Val375Ala)
NM_022132.5(MCCC2):c.1171T>C (p.Cys391Arg)
NM_022132.5(MCCC2):c.1181G>T (p.Arg394Ile) rs531994517
NM_022132.5(MCCC2):c.1235A>C (p.Glu412Ala) rs371587906
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.137A>G (p.Tyr46Cys)
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.1450A>C (p.Thr484Pro) rs1554138549
NM_022132.5(MCCC2):c.1488G>C (p.Gln496His)
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.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.1657A>G (p.Ile553Val) rs143156315
NM_022132.5(MCCC2):c.1663A>G (p.Lys555Glu)
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.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.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.355A>G (p.Ile119Val)
NM_022132.5(MCCC2):c.430G>T (p.Ala144Ser) rs1468231692
NM_022132.5(MCCC2):c.436T>G (p.Tyr146Asp) rs1402663229
NM_022132.5(MCCC2):c.455A>C (p.Lys152Thr) rs1554134065
NM_022132.5(MCCC2):c.478G>A (p.Ala160Thr) rs727504009
NM_022132.5(MCCC2):c.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.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.653C>T (p.Ala218Val) rs760420191
NM_022132.5(MCCC2):c.665A>G (p.Tyr222Cys) rs753735697
NM_022132.5(MCCC2):c.701G>A (p.Arg234His)
NM_022132.5(MCCC2):c.709G>C (p.Gly237Arg) rs781559418
NM_022132.5(MCCC2):c.746C>T (p.Ala249Val)
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.884A>G (p.Asn295Ser)
NM_022132.5(MCCC2):c.995G>A (p.Arg332Gln) rs144203670
NM_022132.5(MCCC2):c.999G>T (p.Glu333Asp) rs1487531101
NM_025136.4(OPA3):c.142+2_142+3dup rs1555736791
NM_025136.4(OPA3):c.182T>C (p.Met61Thr)
NM_025136.4(OPA3):c.305_322dup (p.Gln108_Arg109insArgArgHisGlnAlaGln) rs1599964564
NM_025136.4(OPA3):c.410A>C (p.Gln137Pro)
NM_025136.4(OPA3):c.428C>T (p.Ala143Val)
NM_025136.4(OPA3):c.431C>A (p.Pro144Gln)
NM_025136.4(OPA3):c.532A>G (p.Lys178Glu) rs767372876
NM_025136.4(OPA3):c.77G>T (p.Arg26Leu)
NM_032601.4(MCEE):c.10G>T (p.Val4Leu) rs202194538
NM_032601.4(MCEE):c.226_227delinsAT (p.Ala76Met)
NM_032601.4(MCEE):c.235C>G (p.Leu79Val) rs369078225
NM_032601.4(MCEE):c.311G>A (p.Arg104His) rs6748672
NM_032601.4(MCEE):c.345C>A (p.Asn115Lys)
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.520G>C (p.Glu174Gln) rs200334627
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.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.203G>A (p.Arg68Gln)
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.931T>C (p.Cys311Arg)
NM_032861.4(SERAC1):c.932G>T (p.Cys311Phe)
NM_052845.4(MMAB):c.161G>A (p.Arg54Lys)
NM_052845.4(MMAB):c.19GGGAGCCGTCTTGGCCTG[1] (p.7GSRLGL[1]) rs770077320
NM_052845.4(MMAB):c.247T>C (p.Phe83Leu)
NM_052845.4(MMAB):c.248T>C (p.Phe83Ser)
NM_052845.4(MMAB):c.256G>A (p.Val86Met)
NM_052845.4(MMAB):c.316A>G (p.Lys106Glu) rs765917146
NM_052845.4(MMAB):c.339G>C (p.Glu113Asp)
NM_052845.4(MMAB):c.370G>A (p.Val124Ile)
NM_052845.4(MMAB):c.373G>A (p.Gly125Ser) rs193015172
NM_052845.4(MMAB):c.394T>C (p.Cys132Arg) rs147457956
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.44G>A (p.Arg15His)
NM_052845.4(MMAB):c.541G>A (p.Ala181Thr) rs1439180009
NM_052845.4(MMAB):c.554G>A (p.Cys185Tyr)
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.577G>A (p.Glu193Lys) rs749758687
NM_052845.4(MMAB):c.583C>T (p.Arg195Cys) rs199853576
NM_052845.4(MMAB):c.589G>T (p.Val197Leu)
NM_052845.4(MMAB):c.625G>A (p.Val209Met) rs200903284
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_172250.3(MMAA):c.1135T>C (p.Phe379Leu)
NM_172250.3(MMAA):c.1142C>T (p.Thr381Ile) rs1057520160
NM_172250.3(MMAA):c.175G>C (p.Asp59His) rs371779800
NM_172250.3(MMAA):c.304G>A (p.Ala102Thr) rs1328584680
NM_172250.3(MMAA):c.347A>G (p.Lys116Arg)
NM_172250.3(MMAA):c.562+4A>C
NM_172250.3(MMAA):c.676G>A (p.Glu226Lys)
NM_172250.3(MMAA):c.67T>C (p.Cys23Arg)
NM_172250.3(MMAA):c.800C>T (p.Ala267Val) rs138854691
NM_172250.3(MMAA):c.833G>A (p.Gly278Asp) rs761964238
NM_172250.3(MMAA):c.940C>T (p.Arg314Cys)
NM_172250.3(MMAA):c.947G>A (p.Arg316His)
NM_172250.3(MMAA):c.989G>A (p.Arg330Gln) rs140031911

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