NM_000033.4(ABCD1):c.707G>A (p.Arg236His)
|
rs201455322
|
0.00114
|
NM_000033.4(ABCD1):c.895C>T (p.His299Tyr)
|
rs202195978
|
0.00088
|
NM_000033.4(ABCD1):c.41C>G (p.Thr14Arg)
|
rs782161942
|
0.00047
|
NM_000033.4(ABCD1):c.*903G>A
|
rs78155328
|
0.00032
|
NM_000033.4(ABCD1):c.*767C>T
|
rs1276642493
|
0.00031
|
NM_000033.4(ABCD1):c.*412T>C
|
rs1057515815
|
0.00020
|
NM_000033.4(ABCD1):c.1780+4G>A
|
rs193922095
|
0.00014
|
NM_000033.4(ABCD1):c.2044G>C (p.Glu682Gln)
|
rs781793261
|
0.00013
|
NM_000033.4(ABCD1):c.1582G>A (p.Gly528Ser)
|
rs376472029
|
0.00010
|
NM_000033.4(ABCD1):c.274G>A (p.Gly92Arg)
|
rs201979180
|
0.00008
|
NM_000033.4(ABCD1):c.821G>A (p.Arg274Gln)
|
rs781874815
|
0.00008
|
NM_000033.4(ABCD1):c.1840G>A (p.Gly614Ser)
|
rs146525445
|
0.00007
|
NM_000033.4(ABCD1):c.1914C>T (p.Asp638=)
|
rs199723613
|
0.00007
|
NM_000033.4(ABCD1):c.100C>T (p.Pro34Ser)
|
rs375019683
|
0.00006
|
NM_000033.4(ABCD1):c.2087A>T (p.Lys696Met)
|
rs782157913
|
0.00006
|
NM_000033.4(ABCD1):c.2065C>T (p.Arg689Cys)
|
rs782376163
|
0.00005
|
NM_000033.4(ABCD1):c.392G>T (p.Gly131Val)
|
rs367799134
|
0.00005
|
NM_000033.4(ABCD1):c.1141C>T (p.Arg381Cys)
|
rs781983308
|
0.00004
|
NM_000033.4(ABCD1):c.2173G>A (p.Ala725Thr)
|
rs782809184
|
0.00004
|
NM_000033.4(ABCD1):c.493C>T (p.Arg165Cys)
|
rs781850760
|
0.00004
|
NM_000033.4(ABCD1):c.*450T>A
|
rs1479983733
|
0.00002
|
NM_000033.4(ABCD1):c.-10C>T
|
rs782754717
|
0.00002
|
NM_000033.4(ABCD1):c.1082A>G (p.Asp361Gly)
|
rs1557054156
|
0.00002
|
NM_000033.4(ABCD1):c.1327G>A (p.Ala443Thr)
|
rs782647014
|
0.00002
|
NM_000033.4(ABCD1):c.1526A>G (p.Asn509Ser)
|
rs782158792
|
0.00002
|
NM_000033.4(ABCD1):c.1790C>G (p.Ala597Gly)
|
rs782065134
|
0.00002
|
NM_000033.4(ABCD1):c.199A>G (p.Met67Val)
|
rs1057114018
|
0.00002
|
NM_000033.4(ABCD1):c.208G>A (p.Val70Ile)
|
rs782701925
|
0.00002
|
NM_000033.4(ABCD1):c.386C>A (p.Ala129Asp)
|
rs782359412
|
0.00002
|
NM_000033.4(ABCD1):c.389T>G (p.Phe130Cys)
|
rs1557052334
|
0.00002
|
NM_000033.4(ABCD1):c.515G>A (p.Arg172His)
|
rs541171928
|
0.00002
|
NM_000033.4(ABCD1):c.820C>T (p.Arg274Trp)
|
rs782760033
|
0.00002
|
NM_000033.4(ABCD1):c.922C>T (p.Arg308Cys)
|
rs782419107
|
0.00002
|
NM_000033.4(ABCD1):c.*287G>A
|
rs1169661425
|
0.00001
|
NM_000033.4(ABCD1):c.*360C>T
|
rs1281220823
|
0.00001
|
NM_000033.4(ABCD1):c.*530G>A
|
rs67211405
|
0.00001
|
NM_000033.4(ABCD1):c.*621C>T
|
rs1383766741
|
0.00001
|
NM_000033.4(ABCD1):c.1138G>A (p.Glu380Lys)
|
rs782007706
|
0.00001
|
NM_000033.4(ABCD1):c.1156A>T (p.Thr386Ser)
|
rs1205548762
|
0.00001
|
NM_000033.4(ABCD1):c.1165C>T (p.Arg389Cys)
|
rs128624215
|
0.00001
|
NM_000033.4(ABCD1):c.1181C>T (p.Ala394Val)
|
rs1324874967
|
0.00001
|
NM_000033.4(ABCD1):c.1253G>A (p.Arg418Gln)
|
rs1046633404
|
0.00001
|
NM_000033.4(ABCD1):c.1260C>A (p.His420Gln)
|
rs782066367
|
0.00001
|
NM_000033.4(ABCD1):c.1261G>A (p.Glu421Lys)
|
rs1255903649
|
0.00001
|
NM_000033.4(ABCD1):c.1369G>C (p.Val457Leu)
|
rs781866876
|
0.00001
|
NM_000033.4(ABCD1):c.1415A>G (p.Gln472Arg)
|
rs1569541033
|
0.00001
|
NM_000033.4(ABCD1):c.1452C>G (p.Pro484=)
|
rs782546330
|
0.00001
|
NM_000033.4(ABCD1):c.1893C>T (p.Cys631=)
|
rs1557055319
|
0.00001
|
NM_000033.4(ABCD1):c.1915G>A (p.Val639Met)
|
rs782706738
|
0.00001
|
NM_000033.4(ABCD1):c.2111C>T (p.Ala704Val)
|
rs782740513
|
0.00001
|
NM_000033.4(ABCD1):c.2131C>T (p.Arg711Trp)
|
rs782583464
|
0.00001
|
NM_000033.4(ABCD1):c.2134C>T (p.Arg712Cys)
|
rs1557055441
|
0.00001
|
NM_000033.4(ABCD1):c.2189C>T (p.Pro730Leu)
|
rs375489051
|
0.00001
|
NM_000033.4(ABCD1):c.2209C>T (p.Pro737Ser)
|
rs1290462360
|
0.00001
|
NM_000033.4(ABCD1):c.326T>C (p.Val109Ala)
|
rs782138372
|
0.00001
|
NM_000033.4(ABCD1):c.337C>T (p.Arg113Cys)
|
rs1557052306
|
0.00001
|
NM_000033.4(ABCD1):c.508G>A (p.Ala170Thr)
|
rs782293513
|
0.00001
|
NM_000033.4(ABCD1):c.673A>G (p.Thr225Ala)
|
rs1557052459
|
0.00001
|
NM_000033.4(ABCD1):c.692G>A (p.Arg231Gln)
|
rs782143050
|
0.00001
|
NM_000033.4(ABCD1):c.739G>A (p.Ala247Thr)
|
rs782487174
|
0.00001
|
NM_000033.4(ABCD1):c.756C>A (p.Phe252Leu)
|
rs200849757
|
0.00001
|
NM_000033.4(ABCD1):c.776G>A (p.Arg259Gln)
|
rs200191405
|
0.00001
|
NM_000033.4(ABCD1):c.809C>T (p.Ala270Val)
|
rs781970988
|
0.00001
|
NM_000033.4(ABCD1):c.818C>T (p.Ala273Val)
|
rs868992338
|
0.00001
|
NM_000033.4(ABCD1):c.881C>T (p.Ala294Val)
|
rs2091712106
|
0.00001
|
NC_000023.10:g.(?_152014869)_(153363122_?)dup
|
|
|
NC_000023.10:g.(?_152990712)_(153009199_?)dup
|
|
|
NC_000023.10:g.(?_153001546)_(154563736_?)dup
|
|
|
NM_000033.4(ABCD1):c.*10C>T
|
rs1057515814
|
|
NM_000033.4(ABCD1):c.*12C>T
|
rs1413638807
|
|
NM_000033.4(ABCD1):c.*196C>G
|
rs367591611
|
|
NM_000033.4(ABCD1):c.*208G>C
|
rs193922092
|
|
NM_000033.4(ABCD1):c.*259A>G
|
rs374092960
|
|
NM_000033.4(ABCD1):c.*334C>G
|
rs1252368354
|
|
NM_000033.4(ABCD1):c.*409C>G
|
rs2091778411
|
|
NM_000033.4(ABCD1):c.*476A>G
|
rs372234126
|
|
NM_000033.4(ABCD1):c.*481G>T
|
rs199942817
|
|
NM_000033.4(ABCD1):c.*548GAGAGGG[1]
|
rs1057515816
|
|
NM_000033.4(ABCD1):c.*564G>A
|
rs782819878
|
|
NM_000033.4(ABCD1):c.*795C>T
|
rs1057515817
|
|
NM_000033.4(ABCD1):c.*802G>T
|
rs879957599
|
|
NM_000033.4(ABCD1):c.*805G>C
|
rs879979866
|
|
NM_000033.4(ABCD1):c.*825C>T
|
rs1557055736
|
|
NM_000033.4(ABCD1):c.*830A>G
|
rs1557055737
|
|
NM_000033.4(ABCD1):c.*831G>T
|
rs879964075
|
|
NM_000033.4(ABCD1):c.*870G>T
|
rs72616452
|
|
NM_000033.4(ABCD1):c.*901G>A
|
rs75637470
|
|
NM_000033.4(ABCD1):c.*911G>A
|
rs2091780866
|
|
NM_000033.4(ABCD1):c.*948C>T
|
rs112109783
|
|
NM_000033.4(ABCD1):c.*969A>G
|
rs1557055778
|
|
NM_000033.4(ABCD1):c.*980T>C
|
rs1557055787
|
|
NM_000033.4(ABCD1):c.-342G>A
|
rs912340339
|
|
NM_000033.4(ABCD1):c.1010A>G (p.Tyr337Cys)
|
rs2091726692
|
|
NM_000033.4(ABCD1):c.1019G>A (p.Ser340Asn)
|
|
|
NM_000033.4(ABCD1):c.1020C>A (p.Ser340Arg)
|
|
|
NM_000033.4(ABCD1):c.1021G>A (p.Ala341Thr)
|
rs782492154
|
|
NM_000033.4(ABCD1):c.1021G>T (p.Ala341Ser)
|
rs782492154
|
|
NM_000033.4(ABCD1):c.1025C>T (p.Ser342Leu)
|
|
|
NM_000033.4(ABCD1):c.1031T>C (p.Leu344Pro)
|
rs2148392029
|
|
NM_000033.4(ABCD1):c.1053C>T (p.Ile351=)
|
rs1887821307
|
|
NM_000033.4(ABCD1):c.1075G>A (p.Glu359Lys)
|
|
|
NM_000033.4(ABCD1):c.107T>C (p.Val36Ala)
|
|
|
NM_000033.4(ABCD1):c.1081+5G>T
|
|
|
NM_000033.4(ABCD1):c.1081G>T (p.Asp361Tyr)
|
|
|
NM_000033.4(ABCD1):c.1082-12G>A
|
rs2148395344
|
|
NM_000033.4(ABCD1):c.1091C>G (p.Ala364Gly)
|
|
|
NM_000033.4(ABCD1):c.1092C>G (p.Ala364=)
|
rs782250326
|
|
NM_000033.4(ABCD1):c.1099A>G (p.Lys367Glu)
|
|
|
NM_000033.4(ABCD1):c.1114AAG[1] (p.Lys373del)
|
rs782627940
|
|
NM_000033.4(ABCD1):c.1126G>A (p.Glu376Lys)
|
|
|
NM_000033.4(ABCD1):c.1141_1142delinsTT (p.Arg381Phe)
|
|
|
NM_000033.4(ABCD1):c.1145C>G (p.Thr382Arg)
|
rs2148395416
|
|
NM_000033.4(ABCD1):c.1156A>C (p.Thr386Pro)
|
rs1205548762
|
|
NM_000033.4(ABCD1):c.1157C>G (p.Thr386Ser)
|
rs1603234474
|
|
NM_000033.4(ABCD1):c.1162G>C (p.Ala388Pro)
|
rs2091749101
|
|
NM_000033.4(ABCD1):c.1170CCT[1] (p.Leu392del)
|
|
|
NM_000033.4(ABCD1):c.1174C>G (p.Leu392Val)
|
|
|
NM_000033.4(ABCD1):c.1183G>C (p.Ala395Pro)
|
rs1557054176
|
|
NM_000033.4(ABCD1):c.1184C>T (p.Ala395Val)
|
rs2148395465
|
|
NM_000033.4(ABCD1):c.1192G>A (p.Ala398Thr)
|
rs2148395474
|
|
NM_000033.4(ABCD1):c.1193C>T (p.Ala398Val)
|
rs2148395475
|
|
NM_000033.4(ABCD1):c.1198G>A (p.Glu400Lys)
|
rs2091749296
|
|
NM_000033.4(ABCD1):c.1207A>G (p.Met403Val)
|
|
|
NM_000033.4(ABCD1):c.1211CGT[1] (p.Ser405del)
|
rs2148395492
|
|
NM_000033.4(ABCD1):c.1224+4C>T
|
|
|
NM_000033.4(ABCD1):c.1237G>C (p.Ala413Pro)
|
rs1569541011
|
|
NM_000033.4(ABCD1):c.1244A>G (p.Tyr415Cys)
|
|
|
NM_000033.4(ABCD1):c.1246A>G (p.Thr416Ala)
|
rs2091749822
|
|
NM_000033.4(ABCD1):c.1247C>A (p.Thr416Lys)
|
rs2091749844
|
|
NM_000033.4(ABCD1):c.1255G>C (p.Val419Leu)
|
|
|
NM_000033.4(ABCD1):c.1259A>T (p.His420Leu)
|
rs2091749942
|
|
NM_000033.4(ABCD1):c.1273G>A (p.Val425Ile)
|
|
|
NM_000033.4(ABCD1):c.1281A>T (p.Glu427Asp)
|
rs2148395625
|
|
NM_000033.4(ABCD1):c.1297C>G (p.His433Asp)
|
rs2091750125
|
|
NM_000033.4(ABCD1):c.1394-3C>G
|
|
|
NM_000033.4(ABCD1):c.1405G>C (p.Asp469His)
|
|
|
NM_000033.4(ABCD1):c.1428C>T (p.Cys476=)
|
rs141446687
|
|
NM_000033.4(ABCD1):c.1432A>T (p.Asn478Tyr)
|
|
|
NM_000033.4(ABCD1):c.1448C>T (p.Thr483Met)
|
rs1569541035
|
|
NM_000033.4(ABCD1):c.1477C>G (p.Leu493Val)
|
|
|
NM_000033.4(ABCD1):c.1487G>C (p.Arg496Thr)
|
|
|
NM_000033.4(ABCD1):c.1488+5G>C
|
rs2091753189
|
|
NM_000033.4(ABCD1):c.148G>A (p.Ala50Thr)
|
|
|
NM_000033.4(ABCD1):c.1490T>G (p.Val497Gly)
|
|
|
NM_000033.4(ABCD1):c.1502T>G (p.Met501Arg)
|
|
|
NM_000033.4(ABCD1):c.1511T>C (p.Leu504Pro)
|
|
|
NM_000033.4(ABCD1):c.1514T>C (p.Ile505Thr)
|
rs1557054740
|
|
NM_000033.4(ABCD1):c.1516A>G (p.Thr506Ala)
|
|
|
NM_000033.4(ABCD1):c.1517C>G (p.Thr506Arg)
|
|
|
NM_000033.4(ABCD1):c.1517C>T (p.Thr506Ile)
|
rs2091762306
|
|
NM_000033.4(ABCD1):c.1523C>A (p.Pro508His)
|
rs1569541087
|
|
NM_000033.4(ABCD1):c.1533C>G (p.Cys511Trp)
|
rs782370364
|
|
NM_000033.4(ABCD1):c.1568T>C (p.Leu523Pro)
|
rs2091762647
|
|
NM_000033.4(ABCD1):c.1573C>A (p.Pro525Thr)
|
|
|
NM_000033.4(ABCD1):c.1577C>G (p.Thr526Arg)
|
rs2091762670
|
|
NM_000033.4(ABCD1):c.1586G>T (p.Gly529Val)
|
|
|
NM_000033.4(ABCD1):c.1591C>T (p.Leu531Phe)
|
rs2148397623
|
|
NM_000033.4(ABCD1):c.1599G>T (p.Lys533Asn)
|
rs1569541092
|
|
NM_000033.4(ABCD1):c.1615A>G (p.Met539Val)
|
rs782440686
|
|
NM_000033.4(ABCD1):c.1618T>C (p.Phe540Leu)
|
|
|
NM_000033.4(ABCD1):c.161C>T (p.Thr54Met)
|
|
|
NM_000033.4(ABCD1):c.1620C>G (p.Phe540Leu)
|
|
|
NM_000033.4(ABCD1):c.1622A>G (p.Tyr541Cys)
|
rs2148397662
|
|
NM_000033.4(ABCD1):c.1628C>G (p.Pro543Arg)
|
rs1557054776
|
|
NM_000033.4(ABCD1):c.1635-3C>G
|
rs2148397866
|
|
NM_000033.4(ABCD1):c.1635G>A (p.Arg545=)
|
|
|
NM_000033.4(ABCD1):c.1637C>T (p.Pro546Leu)
|
rs1603235394
|
|
NM_000033.4(ABCD1):c.1642A>G (p.Met548Val)
|
rs201054474
|
|
NM_000033.4(ABCD1):c.1644G>A (p.Met548Ile)
|
rs1569541112
|
|
NM_000033.4(ABCD1):c.1651G>T (p.Gly551Cys)
|
rs2148397892
|
|
NM_000033.4(ABCD1):c.1652G>A (p.Gly551Asp)
|
rs2148397896
|
|
NM_000033.4(ABCD1):c.1652G>T (p.Gly551Val)
|
|
|
NM_000033.4(ABCD1):c.1657C>G (p.Leu553Val)
|
rs2148397902
|
|
NM_000033.4(ABCD1):c.1660C>T (p.Arg554Cys)
|
|
|
NM_000033.4(ABCD1):c.1668G>T (p.Gln556His)
|
rs2091764450
|
|
NM_000033.4(ABCD1):c.1670T>C (p.Val557Ala)
|
|
|
NM_000033.4(ABCD1):c.1675T>C (p.Tyr559His)
|
rs2091764510
|
|
NM_000033.4(ABCD1):c.1681G>A (p.Asp561Asn)
|
rs2091764566
|
|
NM_000033.4(ABCD1):c.1681G>T (p.Asp561Tyr)
|
|
|
NM_000033.4(ABCD1):c.1684T>A (p.Ser562Thr)
|
rs2091764595
|
|
NM_000033.4(ABCD1):c.1684T>C (p.Ser562Pro)
|
rs2091764595
|
|
NM_000033.4(ABCD1):c.1696A>G (p.Met566Val)
|
|
|
NM_000033.4(ABCD1):c.1706A>G (p.Lys569Arg)
|
rs2091764661
|
|
NM_000033.4(ABCD1):c.1715C>T (p.Ser572Leu)
|
|
|
NM_000033.4(ABCD1):c.1743CGT[1] (p.Val583del)
|
rs1557054859
|
|
NM_000033.4(ABCD1):c.1748T>C (p.Val583Ala)
|
|
|
NM_000033.4(ABCD1):c.1763T>A (p.Ile588Asn)
|
rs1569541122
|
|
NM_000033.4(ABCD1):c.1780+5_1780+6insT
|
|
|
NM_000033.4(ABCD1):c.1794G>T (p.Met598Ile)
|
|
|
NM_000033.4(ABCD1):c.179T>C (p.Val60Ala)
|
|
|
NM_000033.4(ABCD1):c.1814T>C (p.Leu605Pro)
|
rs2148399015
|
|
NM_000033.4(ABCD1):c.1816T>C (p.Ser606Pro)
|
rs201774661
|
|
NM_000033.4(ABCD1):c.181G>T (p.Ala61Ser)
|
|
|
NM_000033.4(ABCD1):c.1820G>A (p.Gly607Asp)
|
rs2091772324
|
|
NM_000033.4(ABCD1):c.1823G>A (p.Gly608Asp)
|
rs78993751
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NM_000033.4(ABCD1):c.1857C>A (p.Phe619Leu)
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NM_000033.4(ABCD1):c.1866-15G>A
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NM_000033.4(ABCD1):c.1876_1877delinsTT (p.Ala626Phe)
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NM_000033.4(ABCD1):c.1880T>C (p.Leu627Pro)
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rs2148399201
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NM_000033.4(ABCD1):c.1900G>A (p.Ala634Thr)
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rs782041940
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NM_000033.4(ABCD1):c.1903G>A (p.Val635Met)
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NM_000033.4(ABCD1):c.1912G>A (p.Asp638Asn)
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rs886044887
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NM_000033.4(ABCD1):c.1912G>C (p.Asp638His)
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rs886044887
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NM_000033.4(ABCD1):c.1924A>G (p.Lys642Glu)
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NM_000033.4(ABCD1):c.1928T>A (p.Ile643Asn)
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NM_000033.4(ABCD1):c.1945G>A (p.Asp649Asn)
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NM_000033.4(ABCD1):c.1948G>A (p.Ala650Thr)
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rs1557055332
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NM_000033.4(ABCD1):c.1948G>C (p.Ala650Pro)
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rs1557055332
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NM_000033.4(ABCD1):c.1949C>T (p.Ala650Val)
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rs1557055333
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NM_000033.4(ABCD1):c.1952G>T (p.Gly651Val)
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rs2091773987
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NM_000033.4(ABCD1):c.1961_1975dup (p.Leu654_Thr658dup)
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rs2091774003
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NM_000033.4(ABCD1):c.1966T>C (p.Ser656Pro)
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rs2148399307
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NM_000033.4(ABCD1):c.1972A>G (p.Thr658Ala)
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rs2148399309
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NM_000033.4(ABCD1):c.1975C>T (p.His659Tyr)
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rs2091774102
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NM_000033.4(ABCD1):c.1979G>A (p.Arg660Gln)
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rs1557055340
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NM_000033.4(ABCD1):c.1982C>T (p.Pro661Leu)
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NM_000033.4(ABCD1):c.1984T>C (p.Ser662Pro)
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rs2148399322
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NM_000033.4(ABCD1):c.1991+3A>G
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NM_000033.4(ABCD1):c.1991+68_1992-4del
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rs1603236039
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NM_000033.4(ABCD1):c.1992-2A>C
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rs797044626
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NM_000033.4(ABCD1):c.1992-2A>G
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rs797044626
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NM_000033.4(ABCD1):c.1992-6G>A
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NM_000033.4(ABCD1):c.1997A>C (p.Tyr666Ser)
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rs2091775035
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NM_000033.4(ABCD1):c.1997A>G (p.Tyr666Cys)
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rs2091775035
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NM_000033.4(ABCD1):c.2002A>C (p.Thr668Pro)
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rs1603236086
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NM_000033.4(ABCD1):c.2002A>G (p.Thr668Ala)
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rs1603236086
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NM_000033.4(ABCD1):c.2007C>G (p.His669Gln)
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rs2148399466
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NM_000033.4(ABCD1):c.2011C>G (p.Leu671Val)
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NM_000033.4(ABCD1):c.2017T>G (p.Phe673Val)
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NM_000033.4(ABCD1):c.2020G>C (p.Asp674His)
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NM_000033.4(ABCD1):c.2044G>A (p.Glu682Lys)
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NM_000033.4(ABCD1):c.2050_2051delinsGG (p.Leu684Gly)
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NM_000033.4(ABCD1):c.2053G>A (p.Asp685Asn)
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NM_000033.4(ABCD1):c.2056T>G (p.Ser686Ala)
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NM_000033.4(ABCD1):c.2066G>A (p.Arg689His)
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NM_000033.4(ABCD1):c.2072G>C (p.Ser691Thr)
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rs2091775448
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NM_000033.4(ABCD1):c.2078C>T (p.Thr693Met)
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rs782311214
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NM_000033.4(ABCD1):c.2089C>A (p.Gln697Lys)
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NM_000033.4(ABCD1):c.208G>C (p.Val70Leu)
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rs782701925
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NM_000033.4(ABCD1):c.2106_2122del (p.Leu703fs)
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NM_000033.4(ABCD1):c.2120C>T (p.Pro707Leu)
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NM_000033.4(ABCD1):c.2132G>A (p.Arg711Gln)
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NM_000033.4(ABCD1):c.2135G>A (p.Arg712His)
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rs1557055447
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NM_000033.4(ABCD1):c.2152C>T (p.Gln718Ter)
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NM_000033.4(ABCD1):c.2157C>G (p.Ile719Met)
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NM_000033.4(ABCD1):c.2163C>T (p.Gly721=)
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NM_000033.4(ABCD1):c.2178_2220del (p.Ala727fs)
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NM_000033.4(ABCD1):c.2180C>T (p.Ala727Val)
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NM_000033.4(ABCD1):c.2188C>T (p.Pro730Ser)
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rs1603236153
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NM_000033.4(ABCD1):c.2221C>T (p.Gln741Ter)
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rs2091776291
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NM_000033.4(ABCD1):c.2228C>A (p.Ala743Asp)
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rs1603236168
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NM_000033.4(ABCD1):c.2238A>G (p.Ter746Trp)
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NM_000033.4(ABCD1):c.229_237del (p.Trp77_Leu79del)
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rs1569540680
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NM_000033.4(ABCD1):c.22C>A (p.Arg8=)
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rs2091702555
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NM_000033.4(ABCD1):c.22C>T (p.Arg8Trp)
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NM_000033.4(ABCD1):c.233T>A (p.Leu78His)
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NM_000033.4(ABCD1):c.233T>G (p.Leu78Arg)
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NM_000033.4(ABCD1):c.238C>T (p.Arg80Trp)
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rs868977355
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NM_000033.4(ABCD1):c.239_240insTTTGCG (p.Leu81_Leu82insArgLeu)
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NM_000033.4(ABCD1):c.254G>C (p.Arg85Pro)
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rs782221851
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NM_000033.4(ABCD1):c.254G>T (p.Arg85Leu)
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rs782221851
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NM_000033.4(ABCD1):c.254_280del (p.Arg85_Leu93del)
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rs2091704899
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NM_000033.4(ABCD1):c.257T>A (p.Val86Asp)
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rs2148388871
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NM_000033.4(ABCD1):c.263G>A (p.Cys88Tyr)
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rs2091705016
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NM_000033.4(ABCD1):c.283G>C (p.Ala95Pro)
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NM_000033.4(ABCD1):c.292T>C (p.Ser98Pro)
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NM_000033.4(ABCD1):c.298G>C (p.Ala100Pro)
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rs1557052298
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NM_000033.4(ABCD1):c.302T>C (p.Leu101Ser)
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NM_000033.4(ABCD1):c.304G>A (p.Val102Met)
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rs2148388959
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NM_000033.4(ABCD1):c.32G>C (p.Arg11Pro)
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rs782122122
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NM_000033.4(ABCD1):c.332T>C (p.Val111Ala)
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NM_000033.4(ABCD1):c.338G>A (p.Arg113His)
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rs1322406234
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NM_000033.4(ABCD1):c.394T>C (p.Trp132Arg)
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NM_000033.4(ABCD1):c.431C>T (p.Ala144Val)
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NM_000033.4(ABCD1):c.433A>G (p.Thr145Ala)
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rs1292006620
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NM_000033.4(ABCD1):c.452T>C (p.Ile151Thr)
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rs1569540692
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NM_000033.4(ABCD1):c.467G>A (p.Gly156Asp)
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rs2091707109
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NM_000033.4(ABCD1):c.473T>A (p.Leu158Gln)
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NM_000033.4(ABCD1):c.479T>C (p.Leu160Pro)
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rs2091707324
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NM_000033.4(ABCD1):c.485T>C (p.Phe162Ser)
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rs2148389278
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NM_000033.4(ABCD1):c.499G>C (p.Val167Leu)
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NM_000033.4(ABCD1):c.503C>T (p.Ala168Val)
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NM_000033.4(ABCD1):c.509C>T (p.Ala170Val)
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NM_000033.4(ABCD1):c.524T>A (p.Phe175Tyr)
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rs1569540700
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NM_000033.4(ABCD1):c.526T>A (p.Ser176Thr)
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NM_000033.4(ABCD1):c.530A>T (p.Gln177Leu)
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rs2091708007
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NM_000033.4(ABCD1):c.539A>C (p.Tyr180Ser)
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NM_000033.4(ABCD1):c.539A>G (p.Tyr180Cys)
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rs2091708150
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NM_000033.4(ABCD1):c.542A>C (p.Tyr181Ser)
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rs1557052401
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NM_000033.4(ABCD1):c.544C>G (p.Arg182Gly)
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rs1603232005
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NM_000033.4(ABCD1):c.562G>T (p.Gly188Trp)
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NM_000033.4(ABCD1):c.580G>A (p.Asp194Asn)
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rs2091708552
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NM_000033.4(ABCD1):c.581A>T (p.Asp194Val)
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NM_000033.4(ABCD1):c.584A>G (p.Gln195Arg)
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NM_000033.4(ABCD1):c.590T>G (p.Leu197Arg)
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NM_000033.4(ABCD1):c.595G>A (p.Glu199Lys)
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rs1569540705
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NM_000033.4(ABCD1):c.600C>A (p.Asp200Glu)
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rs782724538
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NM_000033.4(ABCD1):c.631C>T (p.Leu211Phe)
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rs2148389513
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NM_000033.4(ABCD1):c.638C>A (p.Ser213Tyr)
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rs782567718
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NM_000033.4(ABCD1):c.638C>T (p.Ser213Phe)
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rs782567718
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NM_000033.4(ABCD1):c.644T>C (p.Leu215Pro)
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rs2148389537
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NM_000033.4(ABCD1):c.647C>T (p.Thr216Ile)
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rs1603232050
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NM_000033.4(ABCD1):c.653C>T (p.Pro218Leu)
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rs1569540710
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NM_000033.4(ABCD1):c.671T>G (p.Val224Gly)
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rs2148389598
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NM_000033.4(ABCD1):c.674C>T (p.Thr225Ile)
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NM_000033.4(ABCD1):c.685C>G (p.Leu229Val)
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rs2091709505
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NM_000033.4(ABCD1):c.700C>G (p.Arg234Gly)
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NM_000033.4(ABCD1):c.700C>T (p.Arg234Cys)
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rs1557052478
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NM_000033.4(ABCD1):c.701G>T (p.Arg234Leu)
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rs782723557
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NM_000033.4(ABCD1):c.706C>G (p.Arg236Gly)
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NM_000033.4(ABCD1):c.712G>T (p.Ala238Ser)
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NM_000033.4(ABCD1):c.716G>T (p.Gly239Val)
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NM_000033.4(ABCD1):c.728C>G (p.Pro243Arg)
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NM_000033.4(ABCD1):c.743G>A (p.Gly248Asp)
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NM_000033.4(ABCD1):c.748G>A (p.Val250Met)
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NM_000033.4(ABCD1):c.754T>C (p.Phe252Leu)
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NM_000033.4(ABCD1):c.763G>C (p.Ala255Pro)
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NM_000033.4(ABCD1):c.773T>C (p.Leu258Pro)
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rs1569540731
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NM_000033.4(ABCD1):c.775C>T (p.Arg259Trp)
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NM_000033.4(ABCD1):c.778G>T (p.Ala260Ser)
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NM_000033.4(ABCD1):c.794T>C (p.Phe265Ser)
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rs1603232171
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NM_000033.4(ABCD1):c.799G>A (p.Glu267Lys)
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NM_000033.4(ABCD1):c.805G>A (p.Val269Met)
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rs2091711117
|
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NM_000033.4(ABCD1):c.806T>G (p.Val269Gly)
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NM_000033.4(ABCD1):c.815A>G (p.Glu272Gly)
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rs2091711183
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NM_000033.4(ABCD1):c.817G>T (p.Ala273Ser)
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rs1324272283
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NM_000033.4(ABCD1):c.818C>A (p.Ala273Glu)
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rs868992338
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NM_000033.4(ABCD1):c.828G>T (p.Lys276Asn)
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NM_000033.4(ABCD1):c.839G>A (p.Arg280His)
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rs781904944
|
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NM_000033.4(ABCD1):c.839G>C (p.Arg280Pro)
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rs781904944
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NM_000033.4(ABCD1):c.848A>C (p.His283Pro)
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NM_000033.4(ABCD1):c.853C>A (p.Arg285Ser)
|
rs782334088
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NM_000033.4(ABCD1):c.85G>C (p.Ala29Pro)
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NM_000033.4(ABCD1):c.86C>A (p.Ala29Asp)
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NM_000033.4(ABCD1):c.892G>A (p.Gly298Ser)
|
rs1603232243
|
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NM_000033.4(ABCD1):c.896A>G (p.His299Arg)
|
rs782430461
|
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NM_000033.4(ABCD1):c.900+2T>G
|
rs2091712381
|
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NM_000033.4(ABCD1):c.900+7C>T
|
rs2091712393
|
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NM_000033.4(ABCD1):c.901-5C>A
|
rs782603062
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NM_000033.4(ABCD1):c.923G>C (p.Arg308Pro)
|
rs781978255
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NM_000033.4(ABCD1):c.938T>A (p.Leu313Gln)
|
rs2091726449
|
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NM_000033.4(ABCD1):c.943T>C (p.Ser315Pro)
|
rs2091726463
|
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NM_000033.4(ABCD1):c.955C>T (p.Leu319Phe)
|
rs879952582
|
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NM_000033.4(ABCD1):c.956T>C (p.Leu319Pro)
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NM_000033.4(ABCD1):c.971G>A (p.Arg324His)
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NM_000033.4(ABCD1):c.971G>C (p.Arg324Pro)
|
rs148904415
|
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NM_000033.4(ABCD1):c.982G>A (p.Val328Ile)
|
rs2148391987
|
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NM_000033.4(ABCD1):c.983T>G (p.Val328Gly)
|
rs2148391989
|
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NM_000033.4(ABCD1):c.986T>C (p.Met329Thr)
|
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NM_000033.4(ABCD1):c.988_1005del (p.Leu330_Met335del)
|
rs1603233113
|
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NM_000033.4(ABCD1):c.992A>G (p.Glu331Gly)
|
rs1557053241
|
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NM_000033.4(ABCD1):c.992A>T (p.Glu331Val)
|
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NM_000033.4(ABCD1):c.995A>G (p.Gln332Arg)
|
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