ClinVar Miner

List of variants reported as pathogenic for eye degenerative disorder by Labcorp Genetics (formerly Invitae), Labcorp

Included ClinVar conditions (119):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 677
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000153.4(GALC):c.349A>G (p.Met117Val) rs145580093 0.00057
NM_000520.6(HEXA):c.1274_1277dup (p.Tyr427fs) rs387906309 0.00046
NM_000521.4(HEXB):c.1250C>T (p.Pro417Leu) rs28942073 0.00046
NM_000784.4(CYP27A1):c.1183C>T (p.Arg395Cys) rs121908096 0.00031
NM_000520.6(HEXA):c.1073+1G>A rs76173977 0.00021
NM_000153.4(GALC):c.1901T>C (p.Leu634Ser) rs138577661 0.00018
NM_000520.6(HEXA):c.805G>A (p.Gly269Ser) rs121907954 0.00015
NM_000784.4(CYP27A1):c.1016C>T (p.Thr339Met) rs121908102 0.00013
NM_000520.6(HEXA):c.1305C>T (p.Tyr435=) rs587779406 0.00011
NM_000784.4(CYP27A1):c.1184G>A (p.Arg395His) rs587778778 0.00011
NM_000153.4(GALC):c.195G>C (p.Gly65=) rs886042057 0.00010
NM_000784.4(CYP27A1):c.379C>T (p.Arg127Trp) rs201114717 0.00010
NM_000153.4(GALC):c.1586C>T (p.Thr529Met) rs200960659 0.00009
NM_000520.6(HEXA):c.459+5G>A rs762060470 0.00009
NM_000784.4(CYP27A1):c.1184+1G>A rs587778777 0.00009
NM_000153.4(GALC):c.136G>T (p.Asp46Tyr) rs751975987 0.00006
NM_000153.4(GALC):c.265-2A>G rs199710405 0.00006
NM_000520.6(HEXA):c.806-7G>A rs770932296 0.00006
NM_000520.6(HEXA):c.460-1G>T rs764343937 0.00005
NM_000520.6(HEXA):c.533G>A (p.Arg178His) rs28941770 0.00005
NM_000096.4(CP):c.2670C>G (p.Tyr890Ter) rs1043139127 0.00004
NM_000153.4(GALC):c.1592G>A (p.Arg531His) rs200378205 0.00004
NM_000153.4(GALC):c.2041G>A (p.Val681Met) rs200607029 0.00004
NM_000153.4(GALC):c.332G>A (p.Gly111Asp) rs746487628 0.00004
NM_000520.6(HEXA):c.1496G>A (p.Arg499His) rs121907956 0.00004
NM_000520.6(HEXA):c.409C>T (p.Arg137Ter) rs121907962 0.00004
NM_000520.6(HEXA):c.986+3A>G rs200926928 0.00004
NM_000521.4(HEXB):c.1082+5G>A rs5030731 0.00004
NM_000521.4(HEXB):c.1510C>T (p.Pro504Ser) rs121907985 0.00004
NM_000784.4(CYP27A1):c.410G>A (p.Arg137Gln) rs587778818 0.00004
NM_000784.4(CYP27A1):c.562C>T (p.Arg188Ter) rs188850202 0.00004
NM_000784.4(CYP27A1):c.845-1G>A rs397515353 0.00004
NM_000153.4(GALC):c.1186C>T (p.Arg396Trp) rs770485731 0.00003
NM_000153.4(GALC):c.1700A>C (p.Tyr567Ser) rs752537626 0.00003
NM_000153.4(GALC):c.388G>A (p.Glu130Lys) rs374635469 0.00003
NM_000153.4(GALC):c.850G>A (p.Gly284Ser) rs377274761 0.00003
NM_000153.4(GALC):c.868C>T (p.Arg290Cys) rs780750448 0.00003
NM_000520.6(HEXA):c.1260G>C (p.Trp420Cys) rs121907958 0.00003
NM_000521.4(HEXB):c.1597C>T (p.Arg533Cys) rs764552042 0.00003
NM_000784.4(CYP27A1):c.1263+1G>A rs397515355 0.00003
NM_000784.4(CYP27A1):c.1421G>A (p.Arg474Gln) rs121908097 0.00003
NM_000784.4(CYP27A1):c.380G>A (p.Arg127Gln) rs376230356 0.00003
NM_000784.4(CYP27A1):c.886C>T (p.Gln296Ter) rs575064188 0.00003
NM_000096.4(CP):c.1948G>A (p.Gly650Arg) rs776936158 0.00002
NM_000153.4(GALC):c.1671-1G>A rs1182103005 0.00002
NM_000153.4(GALC):c.1814dup (p.Tyr605Ter) rs766007316 0.00002
NM_000153.4(GALC):c.430del (p.Ile144fs) rs775277935 0.00002
NM_000153.4(GALC):c.628A>T (p.Arg210Ter) rs202131052 0.00002
NM_000153.4(GALC):c.674C>A (p.Ala225Glu) rs373077659 0.00002
NM_000153.4(GALC):c.857G>A (p.Gly286Asp) rs199847983 0.00002
NM_000520.6(HEXA):c.1421+1G>C rs147324677 0.00002
NM_000520.6(HEXA):c.1511G>A (p.Arg504His) rs121907955 0.00002
NM_000520.6(HEXA):c.532C>T (p.Arg178Cys) rs121907953 0.00002
NM_000520.6(HEXA):c.571-1G>T rs185429231 0.00002
NM_000521.4(HEXB):c.1513C>T (p.Arg505Trp) rs751592419 0.00002
NM_000521.4(HEXB):c.1645G>A (p.Gly549Arg) rs398123448 0.00002
NM_000521.4(HEXB):c.410G>A (p.Cys137Tyr) rs779453450 0.00002
NM_000784.4(CYP27A1):c.1072C>T (p.Gln358Ter) rs533885672 0.00002
NM_000784.4(CYP27A1):c.850A>T (p.Lys284Ter) rs72551319 0.00002
NM_000096.4(CP):c.2498C>G (p.Ser833Ter) rs369900671 0.00001
NM_000096.4(CP):c.2701C>T (p.Arg901Ter) rs386134156 0.00001
NM_000096.4(CP):c.643C>T (p.Arg215Ter) rs386134155 0.00001
NM_000153.4(GALC):c.1004A>G (p.Tyr335Cys) rs757407613 0.00001
NM_000153.4(GALC):c.1244G>A (p.Gly415Glu) rs1365128831 0.00001
NM_000153.4(GALC):c.129C>G (p.Tyr43Ter) rs1057516816 0.00001
NM_000153.4(GALC):c.1541T>C (p.Phe514Ser) rs375867319 0.00001
NM_000153.4(GALC):c.1591C>T (p.Arg531Cys) rs749893889 0.00001
NM_000153.4(GALC):c.1630G>A (p.Asp544Asn) rs387906952 0.00001
NM_000153.4(GALC):c.1657G>A (p.Gly553Arg) rs748573754 0.00001
NM_000153.4(GALC):c.169G>A (p.Gly57Ser) rs11623 0.00001
NM_000153.4(GALC):c.1723_1724insT (p.Gly575fs) rs1405488688 0.00001
NM_000153.4(GALC):c.1858G>A (p.Gly620Arg) rs779864190 0.00001
NM_000153.4(GALC):c.1898C>T (p.Thr633Met) rs766762599 0.00001
NM_000153.4(GALC):c.195+1G>A rs1009872980 0.00001
NM_000153.4(GALC):c.205C>T (p.Arg69Ter) rs771111145 0.00001
NM_000153.4(GALC):c.328+1G>T rs779701490 0.00001
NM_000153.4(GALC):c.331G>A (p.Gly111Ser) rs756690487 0.00001
NM_000153.4(GALC):c.379C>T (p.Arg127Ter) rs200532368 0.00001
NM_000153.4(GALC):c.461C>A (p.Pro154His) rs758557526 0.00001
NM_000153.4(GALC):c.489G>A (p.Trp163Ter) rs761550284 0.00001
NM_000153.4(GALC):c.673G>A (p.Ala225Thr) rs1436074042 0.00001
NM_000153.4(GALC):c.749T>C (p.Ile250Thr) rs886039569 0.00001
NM_000153.4(GALC):c.863G>A (p.Trp288Ter) rs372621124 0.00001
NM_000153.4(GALC):c.908+1G>A rs750524447 0.00001
NM_000153.4(GALC):c.908C>T (p.Ser303Phe) rs756352952 0.00001
NM_000153.4(GALC):c.982C>T (p.Gln328Ter) rs1337518083 0.00001
NM_000520.6(HEXA):c.1168del (p.Gln390fs) rs772879726 0.00001
NM_000520.6(HEXA):c.1177C>T (p.Arg393Ter) rs121907963 0.00001
NM_000520.6(HEXA):c.139C>T (p.Gln47Ter) rs745996955 0.00001
NM_000520.6(HEXA):c.1422G>C (p.Trp474Cys) rs121907981 0.00001
NM_000520.6(HEXA):c.1444G>A (p.Glu482Lys) rs121907952 0.00001
NM_000520.6(HEXA):c.1495C>T (p.Arg499Cys) rs121907966 0.00001
NM_000520.6(HEXA):c.1510C>T (p.Arg504Cys) rs28942071 0.00001
NM_000520.6(HEXA):c.1528C>T (p.Arg510Ter) rs786204585 0.00001
NM_000520.6(HEXA):c.187G>T (p.Glu63Ter) rs759092928 0.00001
NM_000520.6(HEXA):c.1A>G (p.Met1Val) rs121907965 0.00001
NM_000520.6(HEXA):c.233G>A (p.Trp78Ter) rs769035623 0.00001
NM_000520.6(HEXA):c.2T>C (p.Met1Thr) rs786204721 0.00001
NM_000520.6(HEXA):c.32T>C (p.Leu11Pro) rs141120074 0.00001
NM_000520.6(HEXA):c.346+1G>C rs797044432 0.00001
NM_000520.6(HEXA):c.508C>T (p.Arg170Trp) rs121907972 0.00001
NM_000520.6(HEXA):c.509G>A (p.Arg170Gln) rs121907957 0.00001
NM_000520.6(HEXA):c.536A>G (p.His179Arg) rs747372270 0.00001
NM_000520.6(HEXA):c.570G>T (p.Leu190=) rs1188885214 0.00001
NM_000520.6(HEXA):c.754C>T (p.Arg252Cys) rs566580738 0.00001
NM_000520.6(HEXA):c.755G>A (p.Arg252His) rs762255098 0.00001
NM_000520.6(HEXA):c.772G>C (p.Asp258His) rs121907971 0.00001
NM_000520.6(HEXA):c.805+1G>C rs121907980 0.00001
NM_000520.6(HEXA):c.82C>T (p.Gln28Ter) rs751393950 0.00001
NM_000520.6(HEXA):c.917T>G (p.Leu306Ter) rs1567297439 0.00001
NM_000521.4(HEXB):c.1165dup (p.Gln389fs) rs1749680051 0.00001
NM_000521.4(HEXB):c.1242G>A (p.Lys414=) rs1309123671 0.00001
NM_000521.4(HEXB):c.1243-2A>G rs398123446 0.00001
NM_000521.4(HEXB):c.1417G>A (p.Gly473Ser) rs762892362 0.00001
NM_000521.4(HEXB):c.146C>A (p.Ser49Ter) rs1554034452 0.00001
NM_000521.4(HEXB):c.1514G>A (p.Arg505Gln) rs121907983 0.00001
NM_000521.4(HEXB):c.1538T>C (p.Leu513Pro) rs778501777 0.00001
NM_000521.4(HEXB):c.1598G>A (p.Arg533His) rs1291555996 0.00001
NM_000521.4(HEXB):c.508C>T (p.Arg170Ter) rs753823903 0.00001
NM_000521.4(HEXB):c.558+5G>A rs892920643 0.00001
NM_000521.4(HEXB):c.796T>G (p.Tyr266Asp) rs373979283 0.00001
NM_000521.4(HEXB):c.841C>T (p.Arg281Ter) rs138914144 0.00001
NM_000521.4(HEXB):c.850C>T (p.Arg284Ter) rs121907986 0.00001
NM_000521.4(HEXB):c.965del (p.Ile322fs) rs768438206 0.00001
NM_000784.4(CYP27A1):c.1185-1G>A rs587778779 0.00001
NM_000784.4(CYP27A1):c.1213C>T (p.Arg405Trp) rs573951598 0.00001
NM_000784.4(CYP27A1):c.1214G>A (p.Arg405Gln) rs121908099 0.00001
NM_000784.4(CYP27A1):c.1263+2T>C rs777935791 0.00001
NM_000784.4(CYP27A1):c.1263+5G>T rs587778784 0.00001
NM_000784.4(CYP27A1):c.1415G>C (p.Gly472Ala) rs200883871 0.00001
NM_000784.4(CYP27A1):c.1420C>T (p.Arg474Trp) rs121908098 0.00001
NM_000784.4(CYP27A1):c.32G>A (p.Trp11Ter) rs1398584213 0.00001
NM_000784.4(CYP27A1):c.33G>A (p.Trp11Ter) rs1319938730 0.00001
NM_000784.4(CYP27A1):c.409C>T (p.Arg137Trp) rs72551312 0.00001
NM_000784.4(CYP27A1):c.435G>T (p.Gly145=) rs587778796 0.00001
NM_000784.4(CYP27A1):c.446+1G>A rs587778797 0.00001
NM_000784.4(CYP27A1):c.475C>T (p.Gln159Ter) rs72551314 0.00001
NM_000784.4(CYP27A1):c.646G>C (p.Ala216Pro) rs201346271 0.00001
NM_000784.4(CYP27A1):c.691C>T (p.Arg231Ter) rs72551315 0.00001
NM_000784.4(CYP27A1):c.745C>T (p.Gln249Ter) rs72551316 0.00001
NM_000784.4(CYP27A1):c.776A>G (p.Lys259Arg) rs72551317 0.00001
NM_025136.4(OPA3):c.52C>T (p.Gln18Ter) rs1568413644 0.00001
NC_000002.11:g.(?_219646906)_(219647180_?)del
NC_000002.11:g.(?_219646906)_(219738567_?)del
NC_000002.11:g.(?_219674280)_(219674510_?)del
NC_000002.11:g.(?_219674280)_(219677492_?)del
NC_000002.11:g.(?_219674280)_(219679753_?)del
NC_000002.12:g.(?_218809567)_(218809777_?)del
NC_000002.12:g.218812223dup
NC_000003.11:g.(?_148447967)_(149678891_?)del
NC_000003.11:g.(?_148939414)_(148939579_?)del
NC_000003.12:g.(?_149206148)_(149206359_?)del
NC_000005.10:g.(?_74685241)_(74697126_?)del
NC_000005.10:g.(?_74685251)_(74697116_?)del
NC_000005.10:g.(?_74685261)_(74697106_?)del
NC_000005.10:g.74713507del rs1373278959
NC_000005.9:g.(?_73978914)_(73981242_?)del
NC_000005.9:g.(?_73980960)_(74001165_?)del
NC_000005.9:g.(?_73980960)_(74041702_?)del
NC_000005.9:g.(?_73981066)_(74017020_?)del
NC_000005.9:g.(?_73981076)_(73981394_?)del
NC_000005.9:g.(?_73985143)_(74014806_?)del
NC_000005.9:g.(?_73992498)_(73992951_?)del
NC_000005.9:g.(?_74001024)_(74014816_?)del
NC_000005.9:g.(?_74011325)_(74017010_?)del
NC_000014.8:g.(?_88391503)_88423172del
NC_000014.8:g.(?_88391504)_88423173del
NC_000014.8:g.(?_88391504)_88423174del
NC_000014.8:g.(?_88401064)_(88406335_?)del
NC_000014.8:g.(?_88401076)_(88459508_?)del
NC_000014.8:g.(?_88411887)_(88417102_?)dup
NC_000014.8:g.(?_88416169)_(88442852_?)del
NC_000014.8:g.(?_88417067)_(88429464_?)del
NC_000014.8:g.(?_88429708)_(88429875_?)del
NC_000014.8:g.(?_88431839)_(88434844_?)del
NC_000014.8:g.(?_88431972)_(88439445_?)del
NC_000014.8:g.(?_88434669)_(88434844_?)del
NC_000014.8:g.(?_88448539)_(88459971_?)del
NC_000014.9:g.(?_87934712)_(87950768_?)del
NC_000014.9:g.(?_87934720)_(87950758_?)del
NC_000014.9:g.(?_87963374)_(87963521_?)del
NC_000014.9:g.(?_87968315)_(87968510_?)del
NC_000014.9:g.(?_87992960)_(87993627_?)del
NC_000015.10:g.(?_72350508)_(72351244_?)del
NC_000015.10:g.(?_72374460)_(72375992_?)del
NC_000015.9:g.(?_72103084)_(74244178_?)del
NC_000015.9:g.(?_72636408)_(72636491_?)del
NC_000015.9:g.(?_72636418)_(72637911_?)del
NC_000015.9:g.(?_72637535)_(72639061_?)del
NC_000015.9:g.(?_72638556)_(72639071_?)del
NC_000015.9:g.(?_72638848)_(72639071_?)del
NC_000015.9:g.(?_72638867)_(72641658_?)del
NC_000015.9:g.(?_72640007)_(72648978_?)del
NC_000015.9:g.(?_72646063)_(72653091_?)del
NC_000015.9:g.(?_72662933)_72670877del
NC_000015.9:g.(?_72666801)_(72670977_?)del
NC_000019.10:g.(?_45584613)_(45584774_?)del
NC_000019.9:g.(?_46056772)_(46088022_?)del
NM_000096.4(CP):c.1106del (p.Lys369fs)
NM_000096.4(CP):c.1149G>A (p.Trp383Ter) rs772867888
NM_000096.4(CP):c.1306C>T (p.Arg436Ter)
NM_000096.4(CP):c.1317_1318del (p.Gly440fs) rs1727369694
NM_000096.4(CP):c.1505_1506dup (p.Pro503fs) rs1553761391
NM_000096.4(CP):c.1613del (p.Met538fs) rs1576759850
NM_000096.4(CP):c.1731del (p.Glu577fs) rs2108244261
NM_000096.4(CP):c.1843C>T (p.Gln615Ter)
NM_000096.4(CP):c.1991_1992del (p.Thr664fs)
NM_000096.4(CP):c.2066del (p.Pro689fs) rs386134147
NM_000096.4(CP):c.2149C>T (p.Gln717Ter)
NM_000096.4(CP):c.2253G>A (p.Trp751Ter) rs1559940237
NM_000096.4(CP):c.2322C>A (p.Tyr774Ter) rs2108230432
NM_000096.4(CP):c.2520_2523del (p.Thr841fs)
NM_000096.4(CP):c.2702dup (p.Arg902fs) rs1559935542
NM_000096.4(CP):c.2712del (p.Tyr904_Leu905insTer)
NM_000096.4(CP):c.3019-1G>A rs386134142
NM_000096.4(CP):c.376_379del (p.Tyr126fs) rs2108301637
NM_000096.4(CP):c.607+1del rs753254095
NM_000153.4(GALC):c.1012del (p.Glu338fs) rs1057516469
NM_000153.4(GALC):c.1021del (p.Val341fs) rs1057517382
NM_000153.4(GALC):c.102_103delinsAT (p.Cys34_Ala35delinsTer) rs2139769498
NM_000153.4(GALC):c.1068T>G (p.Tyr356Ter)
NM_000153.4(GALC):c.1075_1084del (p.Lys359fs) rs1555381439
NM_000153.4(GALC):c.1083dup (p.Gly362fs) rs767236077
NM_000153.4(GALC):c.1102G>T (p.Gly368Ter)
NM_000153.4(GALC):c.1123_1129dup (p.Leu377Ter)
NM_000153.4(GALC):c.112dup (p.Ala38fs)
NM_000153.4(GALC):c.1151T>C (p.Ile384Thr)
NM_000153.4(GALC):c.1153G>T (p.Glu385Ter) rs121908010
NM_000153.4(GALC):c.1158_1161+6del rs759068540
NM_000153.4(GALC):c.1171_1175delinsA (p.His391fs) rs1885269233
NM_000153.4(GALC):c.1174del (p.Ser392fs)
NM_000153.4(GALC):c.117del (p.Gly40fs)
NM_000153.4(GALC):c.11G>A (p.Trp4Ter)
NM_000153.4(GALC):c.11_14dup (p.Leu6fs)
NM_000153.4(GALC):c.1230del (p.Phe411fs)
NM_000153.4(GALC):c.1251+5G>C
NM_000153.4(GALC):c.1270C>T (p.Gln424Ter) rs2139961653
NM_000153.4(GALC):c.1273del (p.Val425fs) rs1057516394
NM_000153.4(GALC):c.1285_1324del (p.Lys429fs) rs2139961448
NM_000153.4(GALC):c.1291G>T (p.Gly431Ter) rs2139961576
NM_000153.4(GALC):c.1297_1298insT (p.Thr433fs)
NM_000153.4(GALC):c.1297dup (p.Thr433fs)
NM_000153.4(GALC):c.1318A>T (p.Lys440Ter)
NM_000153.4(GALC):c.1321C>T (p.Gln441Ter)
NM_000153.4(GALC):c.1335_1336del (p.Trp446fs) rs1885229622
NM_000153.4(GALC):c.133_134insGTCG (p.Leu45fs)
NM_000153.4(GALC):c.1361dup (p.Thr455fs)
NM_000153.4(GALC):c.1367_1368del (p.Leu456fs) rs2139956734
NM_000153.4(GALC):c.1394C>T (p.Thr465Ile) rs1566974586
NM_000153.4(GALC):c.1411_1432del (p.Thr471fs) rs2139956480
NM_000153.4(GALC):c.1450C>T (p.Gln484Ter)
NM_000153.4(GALC):c.1450del (p.Gln484fs)
NM_000153.4(GALC):c.1451_1455del (p.Gln484fs)
NM_000153.4(GALC):c.1465dup (p.Thr489fs) rs2139956343
NM_000153.4(GALC):c.1468T>A (p.Tyr490Asn) rs202135871
NM_000153.4(GALC):c.1472del (p.Lys491fs) rs771489305
NM_000153.4(GALC):c.1489+1G>C
NM_000153.4(GALC):c.1507G>T (p.Glu503Ter)
NM_000153.4(GALC):c.1543G>A (p.Glu515Lys) rs794727116
NM_000153.4(GALC):c.155del (p.Gly52fs) rs1064793131
NM_000153.4(GALC):c.1571del (p.Gly524fs)
NM_000153.4(GALC):c.1648dup (p.Ser550fs) rs2139951107
NM_000153.4(GALC):c.166G>C (p.Asp56His)
NM_000153.4(GALC):c.1671-2A>G
NM_000153.4(GALC):c.1676del (p.Asn559fs)
NM_000153.4(GALC):c.1687_1688insTTTTATAA (p.Lys563delinsIleLeuTer)
NM_000153.4(GALC):c.1712dup (p.Pro571_Asp572insTer) rs1555378701
NM_000153.4(GALC):c.1736_1739del (p.Ala579fs) rs754668472
NM_000153.4(GALC):c.175G>C (p.Gly59Arg)
NM_000153.4(GALC):c.1762_1763del (p.Leu588fs) rs751283440
NM_000153.4(GALC):c.176del (p.Gly59fs) rs1567019327
NM_000153.4(GALC):c.1793G>A (p.Trp598Ter) rs1884845930
NM_000153.4(GALC):c.1815dup (p.Arg606fs) rs2139941246
NM_000153.4(GALC):c.181_182insAG (p.Val61fs) rs1887278169
NM_000153.4(GALC):c.183_192dup (p.Gly65fs)
NM_000153.4(GALC):c.1851del (p.Ile616_Tyr617insTer) rs1057516433
NM_000153.4(GALC):c.1853del (p.Ala618fs) rs2139937977
NM_000153.4(GALC):c.1872_1888del (p.Thr625fs) rs1884764754
NM_000153.4(GALC):c.1884del (p.Lys628fs) rs1336726861
NM_000153.4(GALC):c.1884dup (p.Trp629fs) rs1336726861
NM_000153.4(GALC):c.1887del (p.Trp629fs) rs1884765073
NM_000153.4(GALC):c.1890T>A (p.Tyr630Ter) rs1057516453
NM_000153.4(GALC):c.1896_1900del (p.Thr633fs) rs749708827
NM_000153.4(GALC):c.1897dup (p.Thr633fs) rs1555378538
NM_000153.4(GALC):c.1901del (p.Thr633_Leu634insTer) rs1555378534
NM_000153.4(GALC):c.1911+1_1911+5del rs777955784
NM_000153.4(GALC):c.195+2T>C
NM_000153.4(GALC):c.1987del (p.Trp663fs) rs2139925729
NM_000153.4(GALC):c.19_20del (p.Ser7fs) rs1887303860
NM_000153.4(GALC):c.2002A>C (p.Thr668Pro) rs1884498480
NM_000153.4(GALC):c.2006_2009del (p.His669fs)
NM_000153.4(GALC):c.2029del (p.Asp677fs) rs2139925574
NM_000153.4(GALC):c.2036_2040del (p.Phe679fs) rs2139925505
NM_000153.4(GALC):c.2037_2040del (p.Phe679fs) rs754507781
NM_000153.4(GALC):c.2037dup (p.Leu680fs) rs2139925538
NM_000153.4(GALC):c.2056T>C (p.Ter686Gln) rs1406731723
NM_000153.4(GALC):c.210dup (p.Leu71fs) rs1887064841
NM_000153.4(GALC):c.231_232del (p.Tyr78fs)
NM_000153.4(GALC):c.236G>A (p.Arg79His)
NM_000153.4(GALC):c.246A>G (p.Ile82Met)
NM_000153.4(GALC):c.255T>A (p.Tyr85Ter)
NM_000153.4(GALC):c.27del (p.Trp10fs) rs2139769959
NM_000153.4(GALC):c.281del (p.Ser94fs) rs2139758786
NM_000153.4(GALC):c.283_284del (p.Leu95fs) rs2139758767
NM_000153.4(GALC):c.293del (p.Ile97_Leu98insTer)
NM_000153.4(GALC):c.293dup (p.Leu98fs) rs757799254
NM_000153.4(GALC):c.29G>A (p.Trp10Ter) rs2139769937
NM_000153.4(GALC):c.302_308dup (p.Gly104fs) rs2139758703
NM_000153.4(GALC):c.328+1G>A rs779701490
NM_000153.4(GALC):c.332del (p.Gly111fs) rs2139755093
NM_000153.4(GALC):c.349A>T (p.Met117Leu) rs145580093
NM_000153.4(GALC):c.37C>T (p.Arg13Ter) rs1173602413
NM_000153.4(GALC):c.387C>G (p.Tyr129Ter) rs1240965365
NM_000153.4(GALC):c.392G>A (p.Trp131Ter)
NM_000153.4(GALC):c.395G>A (p.Trp132Ter)
NM_000153.4(GALC):c.408del (p.Ala137fs)
NM_000153.4(GALC):c.411_413del (p.Lys139del) rs1555383687
NM_000153.4(GALC):c.432_433dup (p.Thr145fs) rs2139754606
NM_000153.4(GALC):c.433dup (p.Thr145fs) rs1555383679
NM_000153.4(GALC):c.453G>A (p.Trp151Ter) rs745620101
NM_000153.4(GALC):c.467_468dup (p.Leu157fs) rs1057517185
NM_000153.4(GALC):c.488G>A (p.Trp163Ter)
NM_000153.4(GALC):c.498del (p.Asn167fs) rs1886886241
NM_000153.4(GALC):c.505C>T (p.Gln169Ter) rs2139749699
NM_000153.4(GALC):c.516_517del (p.Tyr173fs)
NM_000153.4(GALC):c.533G>A (p.Trp178Ter) rs968905231
NM_000153.4(GALC):c.542del (p.Gly181fs)
NM_000153.4(GALC):c.560A>T (p.Asp187Val) rs997021099
NM_000153.4(GALC):c.583-1G>C rs1555383310
NM_000153.4(GALC):c.583-2A>G
NM_000153.4(GALC):c.599C>A (p.Ser200Ter) rs786204618
NM_000153.4(GALC):c.620del (p.Lys207fs)
NM_000153.4(GALC):c.645del (p.Gln216fs)
NM_000153.4(GALC):c.655C>T (p.Gln219Ter)
NM_000153.4(GALC):c.658C>T (p.Arg220Ter) rs766310671
NM_000153.4(GALC):c.674dup (p.Ser226fs) rs1886496591
NM_000153.4(GALC):c.677del (p.Ser226fs)
NM_000153.4(GALC):c.691del (p.Glu231fs)
NM_000153.4(GALC):c.782_783dup (p.Asp262fs) rs2140001750
NM_000153.4(GALC):c.7dup (p.Glu3fs) rs1555384381
NM_000153.4(GALC):c.80_84dup (p.Val29fs)
NM_000153.4(GALC):c.821A>C (p.Glu274Ala) rs2140001660
NM_000153.4(GALC):c.860G>A (p.Cys287Tyr) rs769433488
NM_000153.4(GALC):c.866dup (p.Arg290fs) rs2140001505
NM_000153.4(GALC):c.884A>T (p.Asn295Ile) rs746922378
NM_000153.4(GALC):c.940_1005del (p.Tyr314_Tyr335del)
NM_000153.4(GALC):c.941A>G (p.Tyr314Cys) rs1595215209
NM_000153.4(GALC):c.946C>T (p.Gln316Ter) rs776368825
NM_000153.4(GALC):c.947_950dup (p.Pro318fs) rs2139996377
NM_000153.4(GALC):c.952C>G (p.Pro318Ala) rs1057516642
NM_000153.4(GALC):c.953C>G (p.Pro318Arg) rs387906954
NM_000153.4(GALC):c.955del (p.Tyr319fs) rs786204454
NM_000153.4(GALC):c.967G>A (p.Gly323Arg) rs1472207768
NM_000153.4(GALC):c.967G>T (p.Gly323Trp) rs1472207768
NM_000153.4(GALC):c.972del (p.Leu324_Met325insTer) rs1057516808
NM_000153.4(GALC):c.9del (p.Glu3fs) rs1555384380
NM_000520.6(HEXA):c.1014del (p.Phe338fs)
NM_000520.6(HEXA):c.1043_1046del (p.Phe348fs) rs1057516755
NM_000520.6(HEXA):c.1053_1054delinsTCCAGCTTGA (p.Glu352delinsProAlaTer)
NM_000520.6(HEXA):c.1069C>T (p.Gln357Ter)
NM_000520.6(HEXA):c.1073+1G>C rs76173977
NM_000520.6(HEXA):c.107dup (p.Tyr37fs)
NM_000520.6(HEXA):c.1088dup (p.Ser364fs)
NM_000520.6(HEXA):c.1092_1093del (p.Ser365fs)
NM_000520.6(HEXA):c.1098T>A (p.Tyr366Ter) rs979690054
NM_000520.6(HEXA):c.1098T>G (p.Tyr366Ter) rs979690054
NM_000520.6(HEXA):c.1114del (p.Val372fs) rs2140321846
NM_000520.6(HEXA):c.1123del (p.Glu375fs) rs766138785
NM_000520.6(HEXA):c.1140del (p.Lys380_Val381insTer) rs1555472553
NM_000520.6(HEXA):c.1142_1146del (p.Val381fs) rs1595798033
NM_000520.6(HEXA):c.1160_1161del (p.Thr387fs)
NM_000520.6(HEXA):c.1168C>T (p.Gln390Ter) rs988192535
NM_000520.6(HEXA):c.1176G>A (p.Trp392Ter) rs267606862
NM_000520.6(HEXA):c.1183del (p.Asp395fs) rs770303210
NM_000520.6(HEXA):c.118del (p.Tyr40fs) rs2140344667
NM_000520.6(HEXA):c.1220del (p.Val407fs) rs2140320741
NM_000520.6(HEXA):c.1250_1251del (p.Ser417fs)
NM_000520.6(HEXA):c.1257dup (p.Trp420fs)
NM_000520.6(HEXA):c.1258del (p.Trp420fs) rs1216659000
NM_000520.6(HEXA):c.1293G>A (p.Trp431Ter)
NM_000520.6(HEXA):c.1307_1308del (p.Ile436fs) rs777042785
NM_000520.6(HEXA):c.1330+1G>A rs767041069
NM_000520.6(HEXA):c.1330+2T>C rs2140320568
NM_000520.6(HEXA):c.1338del (p.Glu447fs)
NM_000520.6(HEXA):c.1361G>A (p.Gly454Asp) rs1229811721
NM_000520.6(HEXA):c.1364del (p.Gly455fs)
NM_000520.6(HEXA):c.1382G>T (p.Gly461Val)
NM_000520.6(HEXA):c.1389T>A (p.Tyr463Ter)
NM_000520.6(HEXA):c.1419_1420del (p.Trp474fs) rs987921756
NM_000520.6(HEXA):c.1421+1G>T rs147324677
NM_000520.6(HEXA):c.1421G>A (p.Trp474Ter) rs762374961
NM_000520.6(HEXA):c.1422-1G>T rs1555472296
NM_000520.6(HEXA):c.1422-2A>G
NM_000520.6(HEXA):c.1435del (p.Ala479fs) rs2088601317
NM_000520.6(HEXA):c.144C>G (p.Tyr48Ter) rs2140344619
NM_000520.6(HEXA):c.1454G>A (p.Trp485Ter) rs1057519468
NM_000520.6(HEXA):c.1455G>A (p.Trp485Ter) rs2140319619
NM_000520.6(HEXA):c.1491T>G (p.Tyr497Ter)
NM_000520.6(HEXA):c.1499del (p.Leu500fs) rs1567295184
NM_000520.6(HEXA):c.1510del (p.Arg504fs) rs797044433
NM_000520.6(HEXA):c.1511G>T (p.Arg504Leu) rs121907955
NM_000520.6(HEXA):c.1525_1526+27del rs2140319516
NM_000520.6(HEXA):c.1526+1G>A
NM_000520.6(HEXA):c.1526+1G>T rs1309204908
NM_000520.6(HEXA):c.1537C>T (p.Gln513Ter)
NM_000520.6(HEXA):c.1549dup (p.Leu517fs) rs1555472161
NM_000520.6(HEXA):c.155C>A (p.Ser52Ter) rs987036804
NM_000520.6(HEXA):c.196del (p.Gln66fs)
NM_000520.6(HEXA):c.19del (p.Trp7fs)
NM_000520.6(HEXA):c.1A>C (p.Met1Leu) rs121907965
NM_000520.6(HEXA):c.1A>T (p.Met1Leu) rs121907965
NM_000520.6(HEXA):c.20G>A (p.Trp7Ter) rs751546658
NM_000520.6(HEXA):c.226_242del (p.Gly76fs) rs2140344404
NM_000520.6(HEXA):c.228del (p.Ser77fs)
NM_000520.6(HEXA):c.237_253+7del rs770628999
NM_000520.6(HEXA):c.25dup (p.Ser9fs)
NM_000520.6(HEXA):c.26C>A (p.Ser9Ter) rs769370282
NM_000520.6(HEXA):c.276dup (p.Asn93fs) rs2088785055
NM_000520.6(HEXA):c.289_290del (p.Val97fs) rs2140329051
NM_000520.6(HEXA):c.310_313dup (p.Asn105delinsMetTer) rs2088783222
NM_000520.6(HEXA):c.32del (p.Leu11fs) rs2140344855
NM_000520.6(HEXA):c.346+1G>A rs797044432
NM_000520.6(HEXA):c.346+1G>T rs797044432
NM_000520.6(HEXA):c.380T>G (p.Leu127Arg) rs121907975
NM_000520.6(HEXA):c.395_398del (p.Val132fs) rs2140328176
NM_000520.6(HEXA):c.397del (p.Trp133fs) rs2088765656
NM_000520.6(HEXA):c.3G>A (p.Met1Ile) rs1595816410
NM_000520.6(HEXA):c.3G>T (p.Met1Ile)
NM_000520.6(HEXA):c.422del (p.Thr141fs) rs2088733629
NM_000520.6(HEXA):c.425_426del (p.Thr141_Phe142insTer) rs1057519458
NM_000520.6(HEXA):c.430C>T (p.Gln144Ter) rs1595802191
NM_000520.6(HEXA):c.441G>A (p.Trp147Ter)
NM_000520.6(HEXA):c.459+24G>C
NM_000520.6(HEXA):c.460-2A>G
NM_000520.6(HEXA):c.465del (p.Phe155fs) rs1057516850
NM_000520.6(HEXA):c.477_478del (p.Glu160fs)
NM_000520.6(HEXA):c.492del (p.Arg166fs) rs2140326388
NM_000520.6(HEXA):c.51_52insAGTTTTCGCTGCTGCTGGCGGCAGCGTTCGCA (p.Gly18fs) rs2140344825
NM_000520.6(HEXA):c.521dup (p.Leu174fs)
NM_000520.6(HEXA):c.546dup (p.Leu183fs) rs1595801740
NM_000520.6(HEXA):c.551_552del (p.Leu183_Ser184insTer) rs1555473070
NM_000520.6(HEXA):c.568_569del (p.Leu190fs) rs2088721832
NM_000520.6(HEXA):c.570+1G>A rs786204754
NM_000520.6(HEXA):c.570G>A (p.Leu190=)
NM_000520.6(HEXA):c.607T>G (p.Trp203Gly) rs1002712424
NM_000520.6(HEXA):c.60_61dup (p.Thr21fs) rs1057517296
NM_000520.6(HEXA):c.629C>T (p.Ser210Phe) rs121907961
NM_000520.6(HEXA):c.631_634del (p.Phe211fs) rs2088690227
NM_000520.6(HEXA):c.637T>C (p.Tyr213His) rs1057519461
NM_000520.6(HEXA):c.672+1G>A rs387906311
NM_000520.6(HEXA):c.672+1G>T
NM_000520.6(HEXA):c.672+2T>C rs2140324625
NM_000520.6(HEXA):c.709C>T (p.Gln237Ter) rs150675340
NM_000520.6(HEXA):c.736G>A (p.Ala246Thr) rs758166013
NM_000520.6(HEXA):c.743del (p.Leu248fs) rs2140324174
NM_000520.6(HEXA):c.749del (p.Gly250fs)
NM_000520.6(HEXA):c.788C>T (p.Thr263Ile) rs1057519462
NM_000520.6(HEXA):c.78G>A (p.Trp26Ter) rs121907964
NM_000520.6(HEXA):c.797G>A (p.Trp266Ter)
NM_000520.6(HEXA):c.805+1G>A rs121907980
NM_000520.6(HEXA):c.834C>G (p.Tyr278Ter)
NM_000520.6(HEXA):c.855_856insTC (p.Thr286fs)
NM_000520.6(HEXA):c.902T>G (p.Met301Arg) rs121907977
NM_000520.6(HEXA):c.912CTT[1] (p.Phe305del) rs121907960
NM_000520.6(HEXA):c.91C>T (p.Gln31Ter) rs556872918
NM_000520.6(HEXA):c.929_930del (p.Ser310fs) rs751248523
NM_000520.6(HEXA):c.938del (p.Pro313fs) rs2140322934
NM_000520.6(HEXA):c.964G>A (p.Asp322Asn) rs772180415
NM_000520.6(HEXA):c.964G>T (p.Asp322Tyr) rs772180415
NM_000520.6(HEXA):c.965A>G (p.Asp322Gly)
NM_000520.6(HEXA):c.967G>T (p.Glu323Ter)
NM_000520.6(HEXA):c.986G>A (p.Trp329Ter)
NM_000520.6(HEXA):c.995A>T (p.Asn332Ile) rs2140322212
NM_000521.4(HEXB):c.1010dup (p.Lys338fs) rs1579952143
NM_000521.4(HEXB):c.1017_1018del (p.Glu339fs) rs2112175206
NM_000521.4(HEXB):c.1021_1023delinsTCAAA (p.Glu342fs) rs1749651392
NM_000521.4(HEXB):c.1023_1026del (p.Ser341fs) rs776476415
NM_000521.4(HEXB):c.1024del (p.Glu342fs) rs2112175228
NM_000521.4(HEXB):c.1082G>A (p.Trp361Ter) rs1361998528
NM_000521.4(HEXB):c.1144A>T (p.Lys382Ter) rs1306678448
NM_000521.4(HEXB):c.1156_1159del (p.Phe386fs) rs1272697701
NM_000521.4(HEXB):c.1159_1160insTTTTTTTTTTTTTTTTTTTNNNNNNNNNNTTTTTCTTTTCCTTTTATTTTATTTTTTGAGACGGAGTCTTGCTCTGTTGTCTGGGTGGAGTGCAGTGGTGCAATCTCGGCTCACTGCAACCTCTTCCTCCCAGGTTGAAGCGGAAACTAGAATCTTTCT (p.Tyr387delinsPhePhePhePhePhePheXaaXaaXaaXaaPhePhePheSerPheTyrPheIlePheTer) rs2112177114
NM_000521.4(HEXB):c.115del (p.Val39fs) rs398123443
NM_000521.4(HEXB):c.1216C>T (p.Gln406Ter)
NM_000521.4(HEXB):c.1227dup (p.Asp410Ter)
NM_000521.4(HEXB):c.1264dup (p.Glu422fs) rs2112180571
NM_000521.4(HEXB):c.1278_1279del (p.Asp426fs) rs2112180614
NM_000521.4(HEXB):c.1288_1294del (p.Pro430fs)
NM_000521.4(HEXB):c.1294dup (p.Glu432fs) rs775920504
NM_000521.4(HEXB):c.1299_1303del (p.Arg435fs) rs2112180705
NM_000521.4(HEXB):c.1303_1304insT (p.Arg435fs) rs2112180739
NM_000521.4(HEXB):c.1303del (p.Arg435fs)
NM_000521.4(HEXB):c.1305_1306del (p.Arg435fs) rs779328596
NM_000521.4(HEXB):c.1310_1311del (p.Thr437fs) rs761240717
NM_000521.4(HEXB):c.1345del (p.Trp449fs) rs1324338803
NM_000521.4(HEXB):c.1379G>A (p.Trp460Ter)
NM_000521.4(HEXB):c.1389C>G (p.Tyr463Ter) rs1554036943
NM_000521.4(HEXB):c.1389_1393del (p.Tyr463_Lys465delinsTer) rs2112180944
NM_000521.4(HEXB):c.1404del (p.Asp470fs) rs2112180987
NM_000521.4(HEXB):c.1408_1409insCA (p.Asp470fs)
NM_000521.4(HEXB):c.1431_1432del (p.Lys478fs)
NM_000521.4(HEXB):c.1434_1437dup (p.Leu480fs)
NM_000521.4(HEXB):c.1434dup (p.Gln479fs)
NM_000521.4(HEXB):c.1462_1481dup (p.Ala495fs)
NM_000521.4(HEXB):c.1469del (p.Gly490fs)
NM_000521.4(HEXB):c.1469dup (p.Glu491fs)
NM_000521.4(HEXB):c.1474_1477delinsAA (p.Tyr492fs) rs1749803258
NM_000521.4(HEXB):c.1509-26G>A rs201580118
NM_000521.4(HEXB):c.1535_1536del (p.Arg512fs) rs794727091
NM_000521.4(HEXB):c.1559_1562dup (p.Asp521fs) rs1554037129
NM_000521.4(HEXB):c.1563_1573del (p.Met522fs) rs1749812910
NM_000521.4(HEXB):c.1575_1590dup (p.Arg531delinsLeuTer) rs1554037137
NM_000521.4(HEXB):c.1577_1578del (p.Ala525_Tyr526insTer)
NM_000521.4(HEXB):c.1578T>G (p.Tyr526Ter) rs1460801055
NM_000521.4(HEXB):c.1586_1589del (p.Leu529fs) rs2112186316
NM_000521.4(HEXB):c.1611_1613+2del rs1554037170
NM_000521.4(HEXB):c.1640dup (p.Tyr547Ter)
NM_000521.4(HEXB):c.1645G>T (p.Gly549Ter)
NM_000521.4(HEXB):c.1652G>A (p.Cys551Tyr) rs727503961
NM_000521.4(HEXB):c.170G>A (p.Trp57Ter) rs1114167287
NM_000521.4(HEXB):c.171del (p.Trp57fs) rs771973471
NM_000521.4(HEXB):c.201del (p.Asn68fs)
NM_000521.4(HEXB):c.283del (p.Glu95fs) rs1748845774
NM_000521.4(HEXB):c.298C>T (p.Arg100Ter) rs1007338250
NM_000521.4(HEXB):c.298del (p.Arg100fs) rs886039499
NM_000521.4(HEXB):c.332G>A (p.Trp111Ter) rs1748943719
NM_000521.4(HEXB):c.333G>A (p.Trp111Ter) rs761117459
NM_000521.4(HEXB):c.341_342del (p.Glu114fs)
NM_000521.4(HEXB):c.439G>T (p.Glu147Ter)
NM_000521.4(HEXB):c.445+1G>A rs761197472
NM_000521.4(HEXB):c.445+1G>C rs761197472
NM_000521.4(HEXB):c.451_452dup (p.Leu151fs) rs1749049871
NM_000521.4(HEXB):c.452T>A (p.Leu151Ter) rs2112135868
NM_000521.4(HEXB):c.534_537del (p.Leu178fs)
NM_000521.4(HEXB):c.535_538del (p.Val179fs)
NM_000521.4(HEXB):c.552T>G (p.Tyr184Ter) rs573447174
NM_000521.4(HEXB):c.571_574del (p.Glu191fs) rs1749127843
NM_000521.4(HEXB):c.64_65del (p.Leu22fs) rs1748834145
NM_000521.4(HEXB):c.707G>A (p.Trp236Ter)
NM_000521.4(HEXB):c.731del (p.Phe244fs) rs2112156393
NM_000521.4(HEXB):c.738T>A (p.Tyr246Ter)
NM_000521.4(HEXB):c.758del (p.Glu253fs)
NM_000521.4(HEXB):c.761T>C (p.Leu254Ser) rs771103635
NM_000521.4(HEXB):c.76del (p.Met26fs) rs1580377105
NM_000521.4(HEXB):c.782_785del (p.Ser261fs) rs1312009126
NM_000521.4(HEXB):c.838_863dup (p.Glu288fs)
NM_000521.4(HEXB):c.839T>G (p.Leu280Ter) rs1579950499
NM_000521.4(HEXB):c.875dup (p.Gly293fs)
NM_000521.4(HEXB):c.876del (p.His294fs) rs1749604779
NM_000521.4(HEXB):c.892del (p.Trp298fs)
NM_000521.4(HEXB):c.893G>A (p.Trp298Ter)
NM_000521.4(HEXB):c.894G>A (p.Trp298Ter)
NM_000521.4(HEXB):c.916_917del (p.Leu306fs) rs2112174996
NM_000521.4(HEXB):c.926G>A (p.Cys309Tyr) rs1554036641
NM_000521.4(HEXB):c.937C>T (p.Gln313Ter)
NM_000521.4(HEXB):c.973_1010del (p.Thr325fs)
NM_000521.4(HEXB):c.992_993insAGTATGTA (p.Ser331fs) rs2112175171
NM_000784.4(CYP27A1):c.1005del (p.Gly336fs) rs1575206357
NM_000784.4(CYP27A1):c.1017+1del rs1559392904
NM_000784.4(CYP27A1):c.1037G>A (p.Trp346Ter)
NM_000784.4(CYP27A1):c.1064del (p.Pro355fs) rs1575206688
NM_000784.4(CYP27A1):c.1068_1072dup (p.Gln358fs)
NM_000784.4(CYP27A1):c.1087G>T (p.Glu363Ter) rs72551321
NM_000784.4(CYP27A1):c.1099_1102dup (p.Val368fs)
NM_000784.4(CYP27A1):c.1116del (p.Gln373fs)
NM_000784.4(CYP27A1):c.1126del (p.Gln376fs)
NM_000784.4(CYP27A1):c.1140del (p.Phe380fs)
NM_000784.4(CYP27A1):c.115A>T (p.Lys39Ter)
NM_000784.4(CYP27A1):c.1170del (p.Lys391fs)
NM_000784.4(CYP27A1):c.1180_1181del (p.Leu394fs) rs1178393503
NM_000784.4(CYP27A1):c.1183C>A (p.Arg395Ser) rs121908096
NM_000784.4(CYP27A1):c.1184+1G>C rs587778777
NM_000784.4(CYP27A1):c.1185-1G>T rs587778779
NM_000784.4(CYP27A1):c.1185-2A>G rs1553616457
NM_000784.4(CYP27A1):c.1185-2A>T rs1553616457
NM_000784.4(CYP27A1):c.1191C>A (p.Tyr397Ter) rs2105981050
NM_000784.4(CYP27A1):c.1193del (p.Pro398fs)
NM_000784.4(CYP27A1):c.11_20dup (p.Arg8fs) rs886041342
NM_000784.4(CYP27A1):c.1239dup (p.Asp414Ter) rs2105981099
NM_000784.4(CYP27A1):c.1263+1G>T
NM_000784.4(CYP27A1):c.1264-1G>A rs587778785
NM_000784.4(CYP27A1):c.1330_1333del (p.Phe444fs)
NM_000784.4(CYP27A1):c.1333C>T (p.Gln445Ter) rs1325218192
NM_000784.4(CYP27A1):c.1339_1342dup (p.Arg448fs) rs2105981231
NM_000784.4(CYP27A1):c.1374del (p.Arg459fs) rs751969035
NM_000784.4(CYP27A1):c.1375del (p.Arg459fs)
NM_000784.4(CYP27A1):c.1381C>T (p.Gln461Ter) rs771819245
NM_000784.4(CYP27A1):c.1416_1423del (p.Val473fs)
NM_000784.4(CYP27A1):c.1434_1435delinsAA (p.Arg479Ser) rs2105981299
NM_000784.4(CYP27A1):c.1435C>A (p.Arg479Ser) rs72551322
NM_000784.4(CYP27A1):c.1435C>G (p.Arg479Gly) rs72551322
NM_000784.4(CYP27A1):c.1435C>T (p.Arg479Cys) rs72551322
NM_000784.4(CYP27A1):c.1468del (p.Leu490fs)
NM_000784.4(CYP27A1):c.1476+2T>A
NM_000784.4(CYP27A1):c.1476+2T>C rs1165952837
NM_000784.4(CYP27A1):c.1477-2A>C rs111570247
NM_000784.4(CYP27A1):c.1519del (p.Glu507fs) rs2105981467
NM_000784.4(CYP27A1):c.238C>T (p.Gln80Ter)
NM_000784.4(CYP27A1):c.24dup (p.Leu9fs) rs1163340926
NM_000784.4(CYP27A1):c.252dup (p.Gln85fs)
NM_000784.4(CYP27A1):c.253C>T (p.Gln85Ter) rs1333458369
NM_000784.4(CYP27A1):c.256-1G>T rs886556800
NM_000784.4(CYP27A1):c.256-2A>G rs1559391390
NM_000784.4(CYP27A1):c.287G>A (p.Trp96Ter) rs1943689766
NM_000784.4(CYP27A1):c.303del (p.Pro102fs)
NM_000784.4(CYP27A1):c.358C>T (p.Gln120Ter) rs1943690848
NM_000784.4(CYP27A1):c.398G>A (p.Trp133Ter) rs1559391480
NM_000784.4(CYP27A1):c.426del (p.Thr143fs) rs2105978931
NM_000784.4(CYP27A1):c.433G>A (p.Gly145Arg) rs587778795
NM_000784.4(CYP27A1):c.446+1G>T rs587778797
NM_000784.4(CYP27A1):c.45_46del (p.Ala16fs) rs1413976755
NM_000784.4(CYP27A1):c.461G>A (p.Trp154Ter)
NM_000784.4(CYP27A1):c.465C>A (p.Tyr155Ter)
NM_000784.4(CYP27A1):c.46dup (p.Ala16fs) rs1413976755
NM_000784.4(CYP27A1):c.506_507delinsA (p.Ala169fs) rs1559392331
NM_000784.4(CYP27A1):c.526del (p.Asp176fs) rs765512351
NM_000784.4(CYP27A1):c.536del (p.Asn179fs)
NM_000784.4(CYP27A1):c.547del (p.Asp183fs)
NM_000784.4(CYP27A1):c.555del (p.Phe185fs)
NM_000784.4(CYP27A1):c.586_587del (p.Ser196fs) rs758739930
NM_000784.4(CYP27A1):c.5dup (p.Ala3fs) rs587778802
NM_000784.4(CYP27A1):c.639del (p.Leu214fs)
NM_000784.4(CYP27A1):c.643G>T (p.Glu215Ter) rs761663976
NM_000784.4(CYP27A1):c.647-1G>A
NM_000784.4(CYP27A1):c.654del (p.Tyr219fs)
NM_000784.4(CYP27A1):c.666_678del (p.Phe222fs) rs755532803
NM_000784.4(CYP27A1):c.667G>T (p.Glu223Ter)
NM_000784.4(CYP27A1):c.67dup (p.His23fs) rs1559384522
NM_000784.4(CYP27A1):c.689dup (p.Arg231fs)
NM_000784.4(CYP27A1):c.69_82del (p.His23fs) rs1943398587
NM_000784.4(CYP27A1):c.702del (p.Glu235fs) rs2105980153
NM_000784.4(CYP27A1):c.753_754del (p.Tyr253fs) rs1559392634
NM_000784.4(CYP27A1):c.765_766del (p.Phe256fs) rs2105980214
NM_000784.4(CYP27A1):c.79dup (p.Ala27fs)
NM_000784.4(CYP27A1):c.803G>A (p.Trp268Ter) rs1943736070
NM_000784.4(CYP27A1):c.808C>T (p.Arg270Ter) rs72551318
NM_000784.4(CYP27A1):c.813C>G (p.Tyr271Ter) rs532134925
NM_000784.4(CYP27A1):c.819del (p.Asp273fs) rs587778812
NM_000784.4(CYP27A1):c.825G>A (p.Trp275Ter)
NM_000784.4(CYP27A1):c.844+1G>A rs397515354
NM_000784.4(CYP27A1):c.844+1G>T
NM_000784.4(CYP27A1):c.845-1G>C
NM_000784.4(CYP27A1):c.847A>T (p.Lys283Ter) rs1057519469
NM_000784.4(CYP27A1):c.944_948del (p.Leu315fs) rs397515356
NM_000784.4(CYP27A1):c.955C>T (p.Gln319Ter) rs1943741125
NM_001376.5(DYNC1H1):c.10016G>A (p.Arg3339His) rs2152591288
NM_001376.5(DYNC1H1):c.10031G>A (p.Arg3344Gln) rs397509412
NM_001376.5(DYNC1H1):c.10420C>T (p.Arg3474Trp) rs757725348
NM_001376.5(DYNC1H1):c.11015C>T (p.Ser3672Leu) rs2152594747
NM_001376.5(DYNC1H1):c.1396A>G (p.Met466Val) rs2141272574
NM_001376.5(DYNC1H1):c.1678G>A (p.Val560Met) rs2047931446
NM_001376.5(DYNC1H1):c.1739A>C (p.Glu580Ala) rs2141274671
NM_001376.5(DYNC1H1):c.1792C>T (p.Arg598Cys) rs587780564
NM_001376.5(DYNC1H1):c.1793G>T (p.Arg598Leu) rs879254085
NM_001376.5(DYNC1H1):c.2327C>T (p.Pro776Leu) rs1057518083
NM_001376.5(DYNC1H1):c.3185A>C (p.Asp1062Ala)
NM_001376.5(DYNC1H1):c.3269G>A (p.Arg1090Lys)
NM_001376.5(DYNC1H1):c.3814C>T (p.Arg1272Cys) rs2141284990
NM_001376.5(DYNC1H1):c.4700G>A (p.Arg1567Gln) rs797044901
NM_001376.5(DYNC1H1):c.4868G>A (p.Arg1623Gln) rs1064796765
NM_001376.5(DYNC1H1):c.5035C>T (p.Arg1679Trp) rs1351401023
NM_001376.5(DYNC1H1):c.5884C>T (p.Arg1962Cys) rs879253881
NM_001376.5(DYNC1H1):c.6994C>T (p.Arg2332Cys) rs1057518961
NM_001376.5(DYNC1H1):c.751C>A (p.Arg251Ser) rs879253979
NM_001376.5(DYNC1H1):c.751C>T (p.Arg251Cys) rs879253979
NM_001376.5(DYNC1H1):c.752G>A (p.Arg251His) rs794727634
NM_001376.5(DYNC1H1):c.791G>A (p.Arg264Gln) rs713993043
NM_001376.5(DYNC1H1):c.874C>T (p.Arg292Trp) rs2047850664
NM_001376.5(DYNC1H1):c.9142G>A (p.Glu3048Lys) rs1555410941
NM_001376.5(DYNC1H1):c.917A>G (p.His306Arg) rs387906738
NM_001376.5(DYNC1H1):c.926G>A (p.Arg309His) rs797045177
NM_001376.5(DYNC1H1):c.9754AAG[2] (p.Lys3254del) rs797044918
NM_025136.4(OPA3):c.103G>T (p.Glu35Ter)
NM_025136.4(OPA3):c.143-1G>A
NM_025136.4(OPA3):c.143-1G>C rs80356523
NM_025136.4(OPA3):c.143-2_143-1delinsCC rs1969382362
NM_025136.4(OPA3):c.313C>G (p.Gln105Glu) rs80356525

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