NM_001351132.2(PEX5):c.967-26C>G
|
rs3816424
|
0.29645
|
NM_001351132.2(PEX5):c.815T>C (p.Met272Thr)
|
rs76708142
|
0.02223
|
NM_001351132.2(PEX5):c.1718+13A>G
|
rs116873137
|
0.01093
|
NM_001351132.2(PEX5):c.998G>A (p.Arg333His)
|
rs59209175
|
0.00776
|
NM_001351132.2(PEX5):c.1632G>A (p.Ala544=)
|
rs115338343
|
0.00644
|
NM_001351132.2(PEX5):c.1053G>A (p.Leu351=)
|
rs61740909
|
0.00290
|
NM_001351132.2(PEX5):c.1521C>T (p.Ala507=)
|
rs150761638
|
0.00221
|
NM_001351132.2(PEX5):c.604G>C (p.Val202Leu)
|
rs149102738
|
0.00209
|
NM_001351132.2(PEX5):c.1567T>C (p.Leu523=)
|
rs144165818
|
0.00158
|
NM_001351132.2(PEX5):c.471C>T (p.Ala157=)
|
rs144331955
|
0.00108
|
NM_001351132.2(PEX5):c.658C>T (p.Arg220Trp)
|
rs200020561
|
0.00103
|
NM_001351132.2(PEX5):c.1178G>A (p.Arg393Gln)
|
rs145690714
|
0.00070
|
NM_001351132.2(PEX5):c.1638C>T (p.Arg546=)
|
rs142408719
|
0.00070
|
NM_001351132.2(PEX5):c.1872C>T (p.Asp624=)
|
rs148914171
|
0.00053
|
NM_001351132.2(PEX5):c.1587C>T (p.Gly529=)
|
rs144401814
|
0.00048
|
NM_001351132.2(PEX5):c.1814G>A (p.Ser605Asn)
|
rs146567534
|
0.00047
|
NM_001351132.2(PEX5):c.552-7G>A
|
rs189631769
|
0.00044
|
NM_001351132.2(PEX5):c.754-4G>A
|
rs111286659
|
0.00039
|
NM_001351132.2(PEX5):c.1707C>T (p.Leu569=)
|
rs151312595
|
0.00035
|
NM_001351132.2(PEX5):c.1718+17A>G
|
rs375272295
|
0.00031
|
NM_001351132.2(PEX5):c.590C>T (p.Thr197Met)
|
rs144897942
|
0.00029
|
NM_001351132.2(PEX5):c.317-15T>C
|
rs187839532
|
0.00027
|
NM_001351132.2(PEX5):c.452C>G (p.Pro151Arg)
|
rs200720523
|
0.00022
|
NM_001351132.2(PEX5):c.316+3G>A
|
rs200776790
|
0.00017
|
NM_001351132.2(PEX5):c.396T>C (p.Thr132=)
|
rs370827246
|
0.00016
|
NM_001351132.2(PEX5):c.670G>A (p.Glu224Lys)
|
rs767347186
|
0.00016
|
NM_001351132.2(PEX5):c.705G>A (p.Ser235=)
|
rs184234003
|
0.00016
|
NM_001351132.2(PEX5):c.129A>G (p.Gly43=)
|
rs932238098
|
0.00015
|
NM_001351132.2(PEX5):c.371C>G (p.Ala124Gly)
|
rs143307183
|
0.00015
|
NM_001351132.2(PEX5):c.1395C>A (p.Asp465Glu)
|
rs772561166
|
0.00014
|
NM_001351132.2(PEX5):c.1548C>T (p.Ser516=)
|
rs143571888
|
0.00014
|
NM_001351132.2(PEX5):c.1559A>G (p.Asn520Ser)
|
rs139364109
|
0.00013
|
NM_001351132.2(PEX5):c.1897A>C (p.Thr633Pro)
|
rs200471952
|
0.00013
|
NM_001351132.2(PEX5):c.753+10T>C
|
rs373242881
|
0.00012
|
NM_001351132.2(PEX5):c.1439G>A (p.Arg480Gln)
|
rs759523235
|
0.00011
|
NM_001351132.2(PEX5):c.1522G>A (p.Val508Met)
|
rs138028549
|
0.00011
|
NM_001351132.2(PEX5):c.1647C>T (p.Leu549=)
|
rs753512677
|
0.00011
|
NM_001351132.2(PEX5):c.258C>T (p.Asp86=)
|
rs144351488
|
0.00011
|
NM_001351132.2(PEX5):c.496C>G (p.Gln166Glu)
|
rs751043763
|
0.00011
|
NM_001351132.2(PEX5):c.680T>C (p.Val227Ala)
|
rs777842778
|
0.00011
|
NM_001351132.2(PEX5):c.966+3G>A
|
rs373763823
|
0.00011
|
NM_001351132.2(PEX5):c.1653C>G (p.Leu551=)
|
rs200215904
|
0.00010
|
NM_001351132.2(PEX5):c.195A>C (p.Glu65Asp)
|
rs147730752
|
0.00010
|
NM_001351132.2(PEX5):c.317-8C>T
|
rs368648650
|
0.00010
|
NM_001351132.2(PEX5):c.1245C>T (p.Asn415=)
|
rs138243167
|
0.00009
|
NM_001351132.2(PEX5):c.1636C>T (p.Arg546Cys)
|
rs759334733
|
0.00009
|
NM_001351132.2(PEX5):c.1875G>A (p.Ala625=)
|
rs371233272
|
0.00009
|
NM_001351132.2(PEX5):c.1893C>T (p.Leu631=)
|
rs143610074
|
0.00009
|
NM_001351132.2(PEX5):c.610A>G (p.Lys204Glu)
|
rs149289353
|
0.00009
|
NM_001351132.2(PEX5):c.754-5C>T
|
rs377379933
|
0.00009
|
NM_001351132.2(PEX5):c.1869C>T (p.Ala623=)
|
rs755919579
|
0.00008
|
NM_001351132.2(PEX5):c.472C>T (p.Arg158Cys)
|
rs747679909
|
0.00008
|
NM_001351132.2(PEX5):c.642+6C>T
|
rs376779359
|
0.00008
|
NM_001351132.2(PEX5):c.655G>A (p.Val219Met)
|
rs144508802
|
0.00008
|
NM_001351132.2(PEX5):c.659G>A (p.Arg220Gln)
|
rs148417349
|
0.00008
|
NM_001351132.2(PEX5):c.1030C>T (p.Arg344Trp)
|
rs145762725
|
0.00007
|
NM_001351132.2(PEX5):c.1182-9A>T
|
rs375860970
|
0.00007
|
NM_001351132.2(PEX5):c.1435G>C (p.Val479Leu)
|
rs751226125
|
0.00007
|
NM_001351132.2(PEX5):c.356C>T (p.Ala119Val)
|
rs745341735
|
0.00007
|
NM_001351132.2(PEX5):c.1110+16G>A
|
rs372043071
|
0.00006
|
NM_001351132.2(PEX5):c.1381T>A (p.Ser461Thr)
|
rs369698308
|
0.00006
|
NM_001351132.2(PEX5):c.1689C>T (p.Gly563=)
|
rs376612398
|
0.00006
|
NM_001351132.2(PEX5):c.1800G>A (p.Ser600=)
|
rs370306007
|
0.00006
|
NM_001351132.2(PEX5):c.1848G>A (p.Gln616=)
|
rs551068158
|
0.00006
|
NM_001351132.2(PEX5):c.1873G>A (p.Ala625Thr)
|
rs143600154
|
0.00006
|
NM_001351132.2(PEX5):c.1902G>A (p.Met634Ile)
|
rs145886418
|
0.00006
|
NM_001351132.2(PEX5):c.230G>A (p.Arg77His)
|
rs780957318
|
0.00006
|
NM_001351132.2(PEX5):c.421T>G (p.Ser141Ala)
|
rs200475014
|
0.00006
|
NM_001351132.2(PEX5):c.643-17G>A
|
rs372199869
|
0.00006
|
NM_001351132.2(PEX5):c.831C>T (p.Ala277=)
|
rs747216258
|
0.00006
|
NM_001351132.2(PEX5):c.967-13G>A
|
rs900261902
|
0.00006
|
NM_001351132.2(PEX5):c.1273A>G (p.Thr425Ala)
|
rs141202824
|
0.00005
|
NM_001351132.2(PEX5):c.1549G>A (p.Val517Ile)
|
rs201596535
|
0.00005
|
NM_001351132.2(PEX5):c.1777C>T (p.Arg593Trp)
|
rs144333076
|
0.00005
|
NM_001351132.2(PEX5):c.642+19C>G
|
rs759232327
|
0.00005
|
NM_001351132.2(PEX5):c.966+5G>A
|
rs199705127
|
0.00005
|
NM_001351132.2(PEX5):c.967-15G>A
|
rs201341037
|
0.00005
|
NM_001351132.2(PEX5):c.1033C>T (p.Arg345Cys)
|
rs199822160
|
0.00004
|
NM_001351132.2(PEX5):c.1280G>A (p.Arg427Gln)
|
rs774915360
|
0.00004
|
NM_001351132.2(PEX5):c.1352G>A (p.Gly451Glu)
|
rs148266027
|
0.00004
|
NM_001351132.2(PEX5):c.1561-20G>A
|
rs753353124
|
0.00004
|
NM_001351132.2(PEX5):c.1640G>A (p.Arg547Gln)
|
rs371462892
|
0.00004
|
NM_001351132.2(PEX5):c.1695C>T (p.Ser565=)
|
rs755547376
|
0.00004
|
NM_001351132.2(PEX5):c.1768C>T (p.Arg590Trp)
|
rs139347001
|
0.00004
|
NM_001351132.2(PEX5):c.1823G>A (p.Arg608His)
|
rs201158549
|
0.00004
|
NM_001351132.2(PEX5):c.1874C>T (p.Ala625Val)
|
rs773854263
|
0.00004
|
NM_001351132.2(PEX5):c.1890C>T (p.Thr630=)
|
rs779933516
|
0.00004
|
NM_001351132.2(PEX5):c.415G>C (p.Asp139His)
|
rs375689941
|
0.00004
|
NM_001351132.2(PEX5):c.449-8C>T
|
rs771181829
|
0.00004
|
NM_001351132.2(PEX5):c.455T>G (p.Leu152Trp)
|
rs370913045
|
0.00004
|
NM_001351132.2(PEX5):c.543C>T (p.Thr181=)
|
rs138205085
|
0.00004
|
NM_001351132.2(PEX5):c.550T>C (p.Trp184Arg)
|
rs998840500
|
0.00004
|
NM_001351132.2(PEX5):c.551+13A>C
|
rs372527455
|
0.00004
|
NM_001351132.2(PEX5):c.753+20C>T
|
rs975426592
|
0.00004
|
NM_001351132.2(PEX5):c.1181+9A>G
|
rs774173665
|
0.00003
|
NM_001351132.2(PEX5):c.1279C>T (p.Arg427Ter)
|
rs61752137
|
0.00003
|
NM_001351132.2(PEX5):c.1333G>C (p.Glu445Gln)
|
rs1405389869
|
0.00003
|
NM_001351132.2(PEX5):c.1493T>G (p.Phe498Cys)
|
rs772579298
|
0.00003
|
NM_001351132.2(PEX5):c.156G>A (p.Lys52=)
|
rs1374555547
|
0.00003
|
NM_001351132.2(PEX5):c.1637G>A (p.Arg546His)
|
rs375588538
|
0.00003
|
NM_001351132.2(PEX5):c.1858T>C (p.Tyr620His)
|
rs141242661
|
0.00003
|
NM_001351132.2(PEX5):c.1876C>T (p.Arg626Trp)
|
rs148040746
|
0.00003
|
NM_001351132.2(PEX5):c.317-6T>C
|
rs755945291
|
0.00003
|
NM_001351132.2(PEX5):c.473G>A (p.Arg158His)
|
rs140456601
|
0.00003
|
NM_001351132.2(PEX5):c.492G>A (p.Leu164=)
|
rs779720569
|
0.00003
|
NM_001351132.2(PEX5):c.551+15C>T
|
rs886049825
|
0.00003
|
NM_001351132.2(PEX5):c.552-18_552-17insCCC
|
rs1385408187
|
0.00003
|
NM_001351132.2(PEX5):c.552-3C>T
|
rs368653314
|
0.00003
|
NM_001351132.2(PEX5):c.693C>T (p.Ser231=)
|
rs140332077
|
0.00003
|
NM_001351132.2(PEX5):c.957C>T (p.Thr319=)
|
rs1208975053
|
0.00003
|
NM_001351132.2(PEX5):c.1080A>T (p.Ala360=)
|
rs776221090
|
0.00002
|
NM_001351132.2(PEX5):c.1111-4C>G
|
rs376699778
|
0.00002
|
NM_001351132.2(PEX5):c.115C>G (p.Pro39Ala)
|
rs751937990
|
0.00002
|
NM_001351132.2(PEX5):c.1211C>T (p.Thr404Ile)
|
rs751774861
|
0.00002
|
NM_001351132.2(PEX5):c.1259G>A (p.Arg420Gln)
|
rs765532002
|
0.00002
|
NM_001351132.2(PEX5):c.1365C>A (p.Ser455Arg)
|
rs1383386030
|
0.00002
|
NM_001351132.2(PEX5):c.1369C>T (p.Arg457Cys)
|
rs199544306
|
0.00002
|
NM_001351132.2(PEX5):c.1394+14G>T
|
rs756329980
|
0.00002
|
NM_001351132.2(PEX5):c.1395-7C>T
|
rs771862091
|
0.00002
|
NM_001351132.2(PEX5):c.148-7C>T
|
rs1295383488
|
0.00002
|
NM_001351132.2(PEX5):c.155A>G (p.Lys52Arg)
|
rs764700965
|
0.00002
|
NM_001351132.2(PEX5):c.1607A>G (p.Asn536Ser)
|
rs749417845
|
0.00002
|
NM_001351132.2(PEX5):c.164G>T (p.Gly55Val)
|
rs752097814
|
0.00002
|
NM_001351132.2(PEX5):c.1677C>T (p.Arg559=)
|
rs756477662
|
0.00002
|
NM_001351132.2(PEX5):c.1769G>A (p.Arg590Gln)
|
rs779049461
|
0.00002
|
NM_001351132.2(PEX5):c.1837A>G (p.Met613Val)
|
rs765623850
|
0.00002
|
NM_001351132.2(PEX5):c.1900A>G (p.Met634Val)
|
rs766669738
|
0.00002
|
NM_001351132.2(PEX5):c.273G>T (p.Met91Ile)
|
rs761240813
|
0.00002
|
NM_001351132.2(PEX5):c.299G>A (p.Arg100His)
|
rs757108771
|
0.00002
|
NM_001351132.2(PEX5):c.318C>T (p.Ala106=)
|
rs149185061
|
0.00002
|
NM_001351132.2(PEX5):c.406A>G (p.Asn136Asp)
|
rs766587819
|
0.00002
|
NM_001351132.2(PEX5):c.523G>A (p.Glu175Lys)
|
rs1259114034
|
0.00002
|
NM_001351132.2(PEX5):c.527C>T (p.Pro176Leu)
|
rs145613325
|
0.00002
|
NM_001351132.2(PEX5):c.551+14C>T
|
rs375606946
|
0.00002
|
NM_001351132.2(PEX5):c.591G>A (p.Thr197=)
|
rs146024341
|
0.00002
|
NM_001351132.2(PEX5):c.63C>T (p.Ala21=)
|
rs374590365
|
0.00002
|
NM_001351132.2(PEX5):c.642+16C>T
|
rs768913130
|
0.00002
|
NM_001351132.2(PEX5):c.664A>G (p.Ile222Val)
|
rs778800705
|
0.00002
|
NM_001351132.2(PEX5):c.689A>C (p.Glu230Ala)
|
rs140292053
|
0.00002
|
NM_001351132.2(PEX5):c.69C>T (p.His23=)
|
rs976676879
|
0.00002
|
NM_001351132.2(PEX5):c.704C>T (p.Ser235Leu)
|
rs752922748
|
0.00002
|
NM_001351132.2(PEX5):c.718G>C (p.Ala240Pro)
|
rs778767381
|
0.00002
|
NM_001351132.2(PEX5):c.754-17A>G
|
rs779717442
|
0.00002
|
NM_001351132.2(PEX5):c.75C>T (p.Thr25=)
|
rs770949712
|
0.00002
|
NM_001351132.2(PEX5):c.83A>G (p.Lys28Arg)
|
rs759345862
|
0.00002
|
NM_001351132.2(PEX5):c.901C>T (p.Arg301Trp)
|
rs767306549
|
0.00002
|
NM_001351132.2(PEX5):c.909T>C (p.Ala303=)
|
rs376649488
|
0.00002
|
NM_001351132.2(PEX5):c.920C>T (p.Pro307Leu)
|
rs1159586988
|
0.00002
|
NM_001351132.2(PEX5):c.966+18_966+19dup
|
rs781032142
|
0.00002
|
NM_001351132.2(PEX5):c.967-16C>T
|
rs764842874
|
0.00002
|
NM_001351132.2(PEX5):c.1031G>A (p.Arg344Gln)
|
rs892031813
|
0.00001
|
NM_001351132.2(PEX5):c.1044G>T (p.Glu348Asp)
|
rs746001175
|
0.00001
|
NM_001351132.2(PEX5):c.1052T>C (p.Leu351Pro)
|
rs1220028381
|
0.00001
|
NM_001351132.2(PEX5):c.1057A>G (p.Asn353Asp)
|
rs971400240
|
0.00001
|
NM_001351132.2(PEX5):c.1059T>C (p.Asn353=)
|
rs775565970
|
0.00001
|
NM_001351132.2(PEX5):c.1097C>T (p.Pro366Leu)
|
rs764934631
|
0.00001
|
NM_001351132.2(PEX5):c.1110+18C>T
|
rs375982509
|
0.00001
|
NM_001351132.2(PEX5):c.1110+20C>T
|
rs1163912133
|
0.00001
|
NM_001351132.2(PEX5):c.1111-12A>G
|
rs371599161
|
0.00001
|
NM_001351132.2(PEX5):c.1119G>A (p.Gln373=)
|
rs369840046
|
0.00001
|
NM_001351132.2(PEX5):c.1134C>A (p.Thr378=)
|
rs142895892
|
0.00001
|
NM_001351132.2(PEX5):c.114C>T (p.Gly38=)
|
rs1275188316
|
0.00001
|
NM_001351132.2(PEX5):c.1182-13C>T
|
rs767049899
|
0.00001
|
NM_001351132.2(PEX5):c.121C>T (p.Pro41Ser)
|
rs781410836
|
0.00001
|
NM_001351132.2(PEX5):c.1223C>T (p.Ala408Val)
|
rs1218031120
|
0.00001
|
NM_001351132.2(PEX5):c.1255C>T (p.Gln419Ter)
|
rs1300934931
|
0.00001
|
NM_001351132.2(PEX5):c.1258C>T (p.Arg420Ter)
|
rs777735499
|
0.00001
|
NM_001351132.2(PEX5):c.1288C>T (p.Leu430=)
|
rs1399663676
|
0.00001
|
NM_001351132.2(PEX5):c.1291C>T (p.Arg431Trp)
|
rs765682048
|
0.00001
|
NM_001351132.2(PEX5):c.1292G>A (p.Arg431Gln)
|
rs144901507
|
0.00001
|
NM_001351132.2(PEX5):c.1293G>A (p.Arg431=)
|
rs1242502801
|
0.00001
|
NM_001351132.2(PEX5):c.131C>G (p.Ala44Gly)
|
rs372992555
|
0.00001
|
NM_001351132.2(PEX5):c.1347G>C (p.Gly449=)
|
rs778715159
|
0.00001
|
NM_001351132.2(PEX5):c.1357G>A (p.Gly453Ser)
|
rs1190413911
|
0.00001
|
NM_001351132.2(PEX5):c.1370G>A (p.Arg457His)
|
rs758827048
|
0.00001
|
NM_001351132.2(PEX5):c.1375C>G (p.Leu459Val)
|
rs375947901
|
0.00001
|
NM_001351132.2(PEX5):c.1394+13G>A
|
rs766780389
|
0.00001
|
NM_001351132.2(PEX5):c.1394+15T>C
|
rs1439543112
|
0.00001
|
NM_001351132.2(PEX5):c.1430C>A (p.Ala477Glu)
|
rs779806201
|
0.00001
|
NM_001351132.2(PEX5):c.1464T>C (p.Pro488=)
|
rs1308021155
|
0.00001
|
NM_001351132.2(PEX5):c.148-18T>G
|
rs1208254383
|
0.00001
|
NM_001351132.2(PEX5):c.149C>T (p.Ala50Val)
|
rs1311355339
|
0.00001
|
NM_001351132.2(PEX5):c.1513G>A (p.Asp505Asn)
|
rs775935095
|
0.00001
|
NM_001351132.2(PEX5):c.1545C>T (p.Leu515=)
|
rs762815657
|
0.00001
|
NM_001351132.2(PEX5):c.1560+12G>A
|
rs375427005
|
0.00001
|
NM_001351132.2(PEX5):c.1560+19T>A
|
rs772671180
|
0.00001
|
NM_001351132.2(PEX5):c.1560T>C (p.Asn520=)
|
rs140330381
|
0.00001
|
NM_001351132.2(PEX5):c.1639C>T (p.Arg547Trp)
|
rs760402644
|
0.00001
|
NM_001351132.2(PEX5):c.1644C>T (p.Ala548=)
|
rs920189030
|
0.00001
|
NM_001351132.2(PEX5):c.1664A>G (p.Tyr555Cys)
|
rs1169699895
|
0.00001
|
NM_001351132.2(PEX5):c.1665T>C (p.Tyr555=)
|
rs781643068
|
0.00001
|
NM_001351132.2(PEX5):c.1669C>T (p.Arg557Trp)
|
rs1281539463
|
0.00001
|
NM_001351132.2(PEX5):c.1718+6A>C
|
rs764840661
|
0.00001
|
NM_001351132.2(PEX5):c.1718G>A (p.Arg573Gln)
|
rs776481733
|
0.00001
|
NM_001351132.2(PEX5):c.1737T>C (p.Phe579=)
|
rs753159772
|
0.00001
|
NM_001351132.2(PEX5):c.1752C>T (p.Asn584=)
|
rs1165878236
|
0.00001
|
NM_001351132.2(PEX5):c.1790G>A (p.Gly597Asp)
|
rs772805558
|
0.00001
|
NM_001351132.2(PEX5):c.17T>C (p.Leu6Pro)
|
rs1245227342
|
0.00001
|
NM_001351132.2(PEX5):c.1806C>T (p.Asn602=)
|
rs1414114941
|
0.00001
|
NM_001351132.2(PEX5):c.1822C>T (p.Arg608Cys)
|
rs372635542
|
0.00001
|
NM_001351132.2(PEX5):c.183+13G>C
|
rs1466902104
|
0.00001
|
NM_001351132.2(PEX5):c.183+15C>T
|
rs1044102845
|
0.00001
|
NM_001351132.2(PEX5):c.1831T>G (p.Leu611Val)
|
rs200266963
|
0.00001
|
NM_001351132.2(PEX5):c.1851C>T (p.Ser617=)
|
rs755085818
|
0.00001
|
NM_001351132.2(PEX5):c.1870G>A (p.Asp624Asn)
|
rs201963167
|
0.00001
|
NM_001351132.2(PEX5):c.1877G>A (p.Arg626Gln)
|
rs762252851
|
0.00001
|
NM_001351132.2(PEX5):c.205G>A (p.Asp69Asn)
|
rs1941048067
|
0.00001
|
NM_001351132.2(PEX5):c.216A>G (p.Ala72=)
|
rs1941051265
|
0.00001
|
NM_001351132.2(PEX5):c.228C>T (p.Ser76=)
|
rs968979207
|
0.00001
|
NM_001351132.2(PEX5):c.241A>T (p.Thr81Ser)
|
rs769373976
|
0.00001
|
NM_001351132.2(PEX5):c.28G>A (p.Glu10Lys)
|
rs747725502
|
0.00001
|
NM_001351132.2(PEX5):c.292A>G (p.Asn98Asp)
|
rs374327439
|
0.00001
|
NM_001351132.2(PEX5):c.316+15T>C
|
rs755789392
|
0.00001
|
NM_001351132.2(PEX5):c.345T>C (p.Ser115=)
|
rs1326887485
|
0.00001
|
NM_001351132.2(PEX5):c.34G>A (p.Gly12Arg)
|
rs398123571
|
0.00001
|
NM_001351132.2(PEX5):c.351C>G (p.Asn117Lys)
|
rs1354610463
|
0.00001
|
NM_001351132.2(PEX5):c.368T>C (p.Leu123Pro)
|
rs777324636
|
0.00001
|
NM_001351132.2(PEX5):c.381T>C (p.Asp127=)
|
rs201467035
|
0.00001
|
NM_001351132.2(PEX5):c.38G>T (p.Gly13Val)
|
rs1940802625
|
0.00001
|
NM_001351132.2(PEX5):c.41C>T (p.Ala14Val)
|
rs768332537
|
0.00001
|
NM_001351132.2(PEX5):c.431T>G (p.Phe144Cys)
|
rs1175995959
|
0.00001
|
NM_001351132.2(PEX5):c.449-10C>T
|
rs749619215
|
0.00001
|
NM_001351132.2(PEX5):c.449-17T>C
|
rs1231533366
|
0.00001
|
NM_001351132.2(PEX5):c.547C>T (p.Arg183Cys)
|
rs746104983
|
0.00001
|
NM_001351132.2(PEX5):c.548G>A (p.Arg183His)
|
rs772215584
|
0.00001
|
NM_001351132.2(PEX5):c.551+9A>G
|
rs1163805891
|
0.00001
|
NM_001351132.2(PEX5):c.552-8C>T
|
rs766250063
|
0.00001
|
NM_001351132.2(PEX5):c.552-9C>A
|
rs762893506
|
0.00001
|
NM_001351132.2(PEX5):c.568C>T (p.Pro190Ser)
|
rs1410451415
|
0.00001
|
NM_001351132.2(PEX5):c.583C>T (p.Gln195Ter)
|
rs890363450
|
0.00001
|
NM_001351132.2(PEX5):c.620A>G (p.Asp207Gly)
|
rs1011160954
|
0.00001
|
NM_001351132.2(PEX5):c.663G>A (p.Gln221=)
|
rs886043565
|
0.00001
|
NM_001351132.2(PEX5):c.667G>A (p.Gly223Ser)
|
rs771879452
|
0.00001
|
NM_001351132.2(PEX5):c.681G>A (p.Val227=)
|
rs763452261
|
0.00001
|
NM_001351132.2(PEX5):c.684C>T (p.Ser228=)
|
rs1234954632
|
0.00001
|
NM_001351132.2(PEX5):c.709C>T (p.Arg237Ter)
|
rs777733574
|
0.00001
|
NM_001351132.2(PEX5):c.750G>C (p.Gln250His)
|
rs1239267747
|
0.00001
|
NM_001351132.2(PEX5):c.753+13C>T
|
rs747606192
|
0.00001
|
NM_001351132.2(PEX5):c.758C>T (p.Thr253Ile)
|
rs747765156
|
0.00001
|
NM_001351132.2(PEX5):c.78G>C (p.Gln26His)
|
rs1940818656
|
0.00001
|
NM_001351132.2(PEX5):c.800C>T (p.Thr267Ile)
|
rs759083753
|
0.00001
|
NM_001351132.2(PEX5):c.801A>G (p.Thr267=)
|
rs1243197291
|
0.00001
|
NM_001351132.2(PEX5):c.81C>T (p.Asp27=)
|
rs398123572
|
0.00001
|
NM_001351132.2(PEX5):c.92G>A (p.Arg31Gln)
|
rs190526209
|
0.00001
|
NM_001351132.2(PEX5):c.965A>T (p.Lys322Met)
|
rs770028664
|
0.00001
|
NM_001351132.2(PEX5):c.966+9A>G
|
rs1389020583
|
0.00001
|
NM_001351132.2(PEX5):c.967-3dup
|
rs777815209
|
0.00001
|
NM_001351132.2(PEX5):c.990C>T (p.Asn330=)
|
rs781775833
|
0.00001
|
NM_001351132.2(PEX5):c.991C>T (p.Pro331Ser)
|
rs1311867918
|
0.00001
|
NM_001351132.2(PEX5):c.997C>T (p.Arg333Cys)
|
rs756565648
|
0.00001
|
NM_001351132.2(PEX5):c.99G>A (p.Glu33=)
|
rs753239589
|
0.00001
|
NC_000012.11:g.(?_7342974)_(7362819_?)dup
|
|
|
NM_001351132.2(PEX5):c.1011G>A (p.Gln337=)
|
rs2136226738
|
|
NM_001351132.2(PEX5):c.102A>G (p.Gly34=)
|
|
|
NM_001351132.2(PEX5):c.102A>T (p.Gly34=)
|
rs758936844
|
|
NM_001351132.2(PEX5):c.1037T>C (p.Leu346Pro)
|
rs2136227054
|
|
NM_001351132.2(PEX5):c.103T>C (p.Leu35=)
|
rs1314683233
|
|
NM_001351132.2(PEX5):c.1044G>A (p.Glu348=)
|
|
|
NM_001351132.2(PEX5):c.1047G>A (p.Gly349=)
|
rs2136227217
|
|
NM_001351132.2(PEX5):c.1048G>A (p.Asp350Asn)
|
|
|
NM_001351132.2(PEX5):c.1051C>T (p.Leu351=)
|
|
|
NM_001351132.2(PEX5):c.1061C>G (p.Ala354Gly)
|
|
|
NM_001351132.2(PEX5):c.1065G>A (p.Val355=)
|
|
|
NM_001351132.2(PEX5):c.1077G>A (p.Glu359=)
|
|
|
NM_001351132.2(PEX5):c.107G>A (p.Arg36Lys)
|
rs2135878731
|
|
NM_001351132.2(PEX5):c.107G>C (p.Arg36Thr)
|
rs2135878731
|
|
NM_001351132.2(PEX5):c.1082C>G (p.Ala361Gly)
|
|
|
NM_001351132.2(PEX5):c.1092G>C (p.Gln364His)
|
|
|
NM_001351132.2(PEX5):c.1104C>T (p.His368=)
|
rs758018152
|
|
NM_001351132.2(PEX5):c.1110+11C>T
|
rs1214830979
|
|
NM_001351132.2(PEX5):c.1110+13A>G
|
|
|
NM_001351132.2(PEX5):c.1110+14T>C
|
|
|
NM_001351132.2(PEX5):c.1110+5G>A
|
rs2136228030
|
|
NM_001351132.2(PEX5):c.1110+6_1110+7dup
|
rs749390755
|
|
NM_001351132.2(PEX5):c.1110+8A>G
|
|
|
NM_001351132.2(PEX5):c.1110+9C>T
|
|
|
NM_001351132.2(PEX5):c.1111-14C>T
|
|
|
NM_001351132.2(PEX5):c.1111-18C>T
|
rs1354941816
|
|
NM_001351132.2(PEX5):c.1111-19T>C
|
|
|
NM_001351132.2(PEX5):c.1111-4C>A
|
|
|
NM_001351132.2(PEX5):c.1111-6C>G
|
|
|
NM_001351132.2(PEX5):c.1111-7C>T
|
|
|
NM_001351132.2(PEX5):c.1111-8C>T
|
|
|
NM_001351132.2(PEX5):c.1113T>C (p.Ala371=)
|
rs2136230382
|
|
NM_001351132.2(PEX5):c.1125G>C (p.Leu375=)
|
rs762678346
|
|
NM_001351132.2(PEX5):c.1132A>G (p.Thr378Ala)
|
rs2136230585
|
|
NM_001351132.2(PEX5):c.1134C>G (p.Thr378=)
|
|
|
NM_001351132.2(PEX5):c.113G>T (p.Gly38Val)
|
|
|
NM_001351132.2(PEX5):c.1143G>A (p.Glu381=)
|
rs2136230701
|
|
NM_001351132.2(PEX5):c.1145A>G (p.Asn382Ser)
|
rs2136230724
|
|
NM_001351132.2(PEX5):c.1151A>G (p.Gln384Arg)
|
rs2136230787
|
|
NM_001351132.2(PEX5):c.1155A>G (p.Glu385=)
|
|
|
NM_001351132.2(PEX5):c.115C>T (p.Pro39Ser)
|
rs751937990
|
|
NM_001351132.2(PEX5):c.1166_1168dup (p.Ile389dup)
|
rs774781585
|
|
NM_001351132.2(PEX5):c.1173A>G (p.Ala391=)
|
rs1045943718
|
|
NM_001351132.2(PEX5):c.1177C>T (p.Arg393Trp)
|
|
|
NM_001351132.2(PEX5):c.1181+16G>A
|
|
|
NM_001351132.2(PEX5):c.1181+19G>A
|
|
|
NM_001351132.2(PEX5):c.1181+20T>G
|
rs1945041920
|
|
NM_001351132.2(PEX5):c.1181+4A>G
|
rs2136231209
|
|
NM_001351132.2(PEX5):c.1182-12C>G
|
|
|
NM_001351132.2(PEX5):c.1182-12C>T
|
|
|
NM_001351132.2(PEX5):c.1182-6A>T
|
rs1945095734
|
|
NM_001351132.2(PEX5):c.1182-8T>C
|
|
|
NM_001351132.2(PEX5):c.1182G>A (p.Arg394=)
|
rs199624284
|
|
NM_001351132.2(PEX5):c.1182G>T (p.Arg394Ser)
|
rs199624284
|
|
NM_001351132.2(PEX5):c.1185T>C (p.Cys395=)
|
|
|
NM_001351132.2(PEX5):c.1198C>T (p.Pro400Ser)
|
|
|
NM_001351132.2(PEX5):c.119G>A (p.Trp40Ter)
|
rs2135879026
|
|
NM_001351132.2(PEX5):c.1201G>A (p.Asp401Asn)
|
rs1945098580
|
|
NM_001351132.2(PEX5):c.1202A>G (p.Asp401Gly)
|
|
|
NM_001351132.2(PEX5):c.1206C>T (p.Asn402=)
|
|
|
NM_001351132.2(PEX5):c.120G>C (p.Trp40Cys)
|
rs2135879116
|
|
NM_001351132.2(PEX5):c.1215A>G (p.Ala405=)
|
|
|
NM_001351132.2(PEX5):c.121C>A (p.Pro41Thr)
|
rs781410836
|
|
NM_001351132.2(PEX5):c.1224G>A (p.Ala408=)
|
|
|
NM_001351132.2(PEX5):c.1229C>T (p.Ala410Val)
|
|
|
NM_001351132.2(PEX5):c.122C>A (p.Pro41His)
|
rs772786048
|
|
NM_001351132.2(PEX5):c.122C>T (p.Pro41Leu)
|
rs772786048
|
|
NM_001351132.2(PEX5):c.1239C>T (p.Phe413=)
|
|
|
NM_001351132.2(PEX5):c.1241C>T (p.Thr414Ile)
|
rs1458919607
|
|
NM_001351132.2(PEX5):c.1246G>A (p.Glu416Lys)
|
rs1945105117
|
|
NM_001351132.2(PEX5):c.1248G>A (p.Glu416=)
|
rs2136236014
|
|
NM_001351132.2(PEX5):c.124C>G (p.Pro42Ala)
|
rs2135879394
|
|
NM_001351132.2(PEX5):c.1251C>G (p.Ser417=)
|
|
|
NM_001351132.2(PEX5):c.1252C>A (p.Leu418Met)
|
rs2136236124
|
|
NM_001351132.2(PEX5):c.1254G>C (p.Leu418=)
|
rs989783550
|
|
NM_001351132.2(PEX5):c.1254G>T (p.Leu418=)
|
|
|
NM_001351132.2(PEX5):c.125C>G (p.Pro42Arg)
|
|
|
NM_001351132.2(PEX5):c.1264dup (p.Ala422fs)
|
rs1374334296
|
|
NM_001351132.2(PEX5):c.1265C>T (p.Ala422Val)
|
rs1945109944
|
|
NM_001351132.2(PEX5):c.1266C>T (p.Ala422=)
|
|
|
NM_001351132.2(PEX5):c.1267T>C (p.Cys423Arg)
|
rs2136236516
|
|
NM_001351132.2(PEX5):c.126C>T (p.Pro42=)
|
rs1199646327
|
|
NM_001351132.2(PEX5):c.1279dup (p.Arg427fs)
|
|
|
NM_001351132.2(PEX5):c.1280G>T (p.Arg427Leu)
|
rs774915360
|
|
NM_001351132.2(PEX5):c.1282G>A (p.Asp428Asn)
|
|
|
NM_001351132.2(PEX5):c.1289T>C (p.Leu430Pro)
|
|
|
NM_001351132.2(PEX5):c.1299A>G (p.Thr433=)
|
|
|
NM_001351132.2(PEX5):c.12G>A (p.Arg4=)
|
|
|
NM_001351132.2(PEX5):c.1311C>T (p.Ala437=)
|
|
|
NM_001351132.2(PEX5):c.1312C>T (p.His438Tyr)
|
rs2136237273
|
|
NM_001351132.2(PEX5):c.1315C>A (p.Leu439Met)
|
rs756242143
|
|
NM_001351132.2(PEX5):c.1315C>T (p.Leu439=)
|
rs756242143
|
|
NM_001351132.2(PEX5):c.1319_1320del (p.Val440fs)
|
|
|
NM_001351132.2(PEX5):c.131C>T (p.Ala44Val)
|
rs372992555
|
|
NM_001351132.2(PEX5):c.1321A>G (p.Thr441Ala)
|
rs2136237401
|
|
NM_001351132.2(PEX5):c.1322C>T (p.Thr441Ile)
|
rs777898843
|
|
NM_001351132.2(PEX5):c.132C>G (p.Ala44=)
|
|
|
NM_001351132.2(PEX5):c.1338G>A (p.Gly446=)
|
rs1359071852
|
|
NM_001351132.2(PEX5):c.133C>T (p.Pro45Ser)
|
rs1379216235
|
|
NM_001351132.2(PEX5):c.134C>T (p.Pro45Leu)
|
rs145649593
|
|
NM_001351132.2(PEX5):c.1355_1356del (p.Leu452fs)
|
|
|
NM_001351132.2(PEX5):c.1356G>C (p.Leu452=)
|
rs1945126491
|
|
NM_001351132.2(PEX5):c.135G>C (p.Pro45=)
|
rs761885230
|
|
NM_001351132.2(PEX5):c.135_147+32del
|
|
|
NM_001351132.2(PEX5):c.135_147+33delinsC
|
rs2135880243
|
|
NM_001351132.2(PEX5):c.1364G>A (p.Ser455Asn)
|
|
|
NM_001351132.2(PEX5):c.1368_1369insGG (p.Arg457fs)
|
|
|
NM_001351132.2(PEX5):c.1380A>T (p.Gly460=)
|
rs2136238100
|
|
NM_001351132.2(PEX5):c.1384C>G (p.Leu462Val)
|
rs774709242
|
|
NM_001351132.2(PEX5):c.1384C>T (p.Leu462Phe)
|
rs774709242
|
|
NM_001351132.2(PEX5):c.1386C>G (p.Leu462=)
|
|
|
NM_001351132.2(PEX5):c.1388T>C (p.Leu463Ser)
|
rs2136238274
|
|
NM_001351132.2(PEX5):c.1391C>T (p.Ser464Phe)
|
|
|
NM_001351132.2(PEX5):c.1392T>C (p.Ser464=)
|
rs2136238346
|
|
NM_001351132.2(PEX5):c.1394+14dup
|
rs1186018434
|
|
NM_001351132.2(PEX5):c.1394+18C>T
|
rs148648526
|
|
NM_001351132.2(PEX5):c.1394+9del
|
|
|
NM_001351132.2(PEX5):c.1395-12C>G
|
|
|
NM_001351132.2(PEX5):c.1395-14T>C
|
rs1945174737
|
|
NM_001351132.2(PEX5):c.1395-20T>G
|
|
|
NM_001351132.2(PEX5):c.1395-5T>C
|
|
|
NM_001351132.2(PEX5):c.1395C>T (p.Asp465=)
|
|
|
NM_001351132.2(PEX5):c.1398C>A (p.Ser466=)
|
|
|
NM_001351132.2(PEX5):c.1413G>A (p.Val471=)
|
rs115760878
|
|
NM_001351132.2(PEX5):c.1413G>C (p.Val471=)
|
rs115760878
|
|
NM_001351132.2(PEX5):c.1419G>A (p.Glu473=)
|
rs1945181377
|
|
NM_001351132.2(PEX5):c.1419G>T (p.Glu473Asp)
|
rs1945181377
|
|
NM_001351132.2(PEX5):c.1426C>T (p.Leu476=)
|
|
|
NM_001351132.2(PEX5):c.1426del (p.Leu476fs)
|
|
|
NM_001351132.2(PEX5):c.1438C>T (p.Arg480Trp)
|
|
|
NM_001351132.2(PEX5):c.1462C>A (p.Pro488Thr)
|
|
|
NM_001351132.2(PEX5):c.1462C>G (p.Pro488Ala)
|
|
|
NM_001351132.2(PEX5):c.1469_1470insAC (p.Gln491fs)
|
rs2136243209
|
|
NM_001351132.2(PEX5):c.147+11T>A
|
|
|
NM_001351132.2(PEX5):c.147+13G>C
|
|
|
NM_001351132.2(PEX5):c.147+2T>G
|
|
|
NM_001351132.2(PEX5):c.147+32_147+121del
|
|
|
NM_001351132.2(PEX5):c.147+4A>G
|
|
|
NM_001351132.2(PEX5):c.147+55_147+56insGTGAGGTGGAAAGCCCAGGTGCAGCCTCTGAGGCAGTGAGTGTTC
|
|
|
NM_001351132.2(PEX5):c.147+6T>C
|
rs2135881175
|
|
NM_001351132.2(PEX5):c.147+77_147+121del
|
|
|
NM_001351132.2(PEX5):c.1470G>A (p.Val490=)
|
rs2136243242
|
|
NM_001351132.2(PEX5):c.1473G>A (p.Gln491=)
|
|
|
NM_001351132.2(PEX5):c.148-10T>C
|
rs2135889432
|
|
NM_001351132.2(PEX5):c.148-13C>T
|
|
|
NM_001351132.2(PEX5):c.148-14T>C
|
rs111277807
|
|
NM_001351132.2(PEX5):c.148-15_148-12del
|
rs774517551
|
|
NM_001351132.2(PEX5):c.148-18T>C
|
|
|
NM_001351132.2(PEX5):c.148-19C>G
|
|
|
NM_001351132.2(PEX5):c.148-19C>T
|
rs1487304617
|
|
NM_001351132.2(PEX5):c.148-20T>G
|
|
|
NM_001351132.2(PEX5):c.148-7del
|
|
|
NM_001351132.2(PEX5):c.1480T>C (p.Leu494=)
|
rs1199150044
|
|
NM_001351132.2(PEX5):c.1482G>A (p.Leu494=)
|
rs1591799831
|
|
NM_001351132.2(PEX5):c.1489C>A (p.Leu497Ile)
|
rs2136243573
|
|
NM_001351132.2(PEX5):c.1491T>C (p.Leu497=)
|
|
|
NM_001351132.2(PEX5):c.1506G>A (p.Gly502=)
|
|
|
NM_001351132.2(PEX5):c.1512T>G (p.Tyr504Ter)
|
|
|
NM_001351132.2(PEX5):c.1513G>C (p.Asp505His)
|
|
|
NM_001351132.2(PEX5):c.1515C>T (p.Asp505=)
|
|
|
NM_001351132.2(PEX5):c.1521C>G (p.Ala507=)
|
|
|
NM_001351132.2(PEX5):c.1521_1527del (p.Val508fs)
|
rs1731078730
|
|
NM_001351132.2(PEX5):c.1528T>A (p.Cys510Ser)
|
rs1945199025
|
|
NM_001351132.2(PEX5):c.1530C>T (p.Cys510=)
|
rs2136244291
|
|
NM_001351132.2(PEX5):c.1536A>C (p.Thr512=)
|
|
|
NM_001351132.2(PEX5):c.1536A>G (p.Thr512=)
|
|
|
NM_001351132.2(PEX5):c.153C>G (p.Ser51=)
|
|
|
NM_001351132.2(PEX5):c.1543C>G (p.Leu515Val)
|
rs370984432
|
|
NM_001351132.2(PEX5):c.1552C>T (p.Arg518Cys)
|
rs182028506
|
|
NM_001351132.2(PEX5):c.1553G>A (p.Arg518His)
|
rs146183061
|
|
NM_001351132.2(PEX5):c.1560+10G>C
|
|
|
NM_001351132.2(PEX5):c.1560+6C>T
|
rs1945208210
|
|
NM_001351132.2(PEX5):c.1560+7C>T
|
|
|
NM_001351132.2(PEX5):c.1561-14C>T
|
|
|
NM_001351132.2(PEX5):c.1561-15G>A
|
|
|
NM_001351132.2(PEX5):c.1561-2A>G
|
rs2136254229
|
|
NM_001351132.2(PEX5):c.1561-3C>T
|
|
|
NM_001351132.2(PEX5):c.1561-5C>G
|
|
|
NM_001351132.2(PEX5):c.1561-6T>C
|
|
|
NM_001351132.2(PEX5):c.1565A>G (p.Tyr522Cys)
|
rs1205322300
|
|
NM_001351132.2(PEX5):c.1572G>A (p.Leu524=)
|
|
|
NM_001351132.2(PEX5):c.1574G>A (p.Trp525Ter)
|
rs2136254746
|
|
NM_001351132.2(PEX5):c.1578T>A (p.Asn526Lys)
|
|
|
NM_001351132.2(PEX5):c.1578T>G (p.Asn526Lys)
|
rs61752138
|
|
NM_001351132.2(PEX5):c.1582C>G (p.Leu528Val)
|
|
|
NM_001351132.2(PEX5):c.1588G>A (p.Ala530Thr)
|
rs1591804566
|
|
NM_001351132.2(PEX5):c.1592C>A (p.Thr531Asn)
|
rs1945293420
|
|
NM_001351132.2(PEX5):c.1593C>G (p.Thr531=)
|
|
|
NM_001351132.2(PEX5):c.15G>A (p.Glu5=)
|
rs2135875866
|
|
NM_001351132.2(PEX5):c.1607del (p.Asn536fs)
|
|
|
NM_001351132.2(PEX5):c.1610A>G (p.Gln537Arg)
|
|
|
NM_001351132.2(PEX5):c.1611G>C (p.Gln537His)
|
|
|
NM_001351132.2(PEX5):c.1618G>A (p.Glu540Lys)
|
rs977141805
|
|
NM_001351132.2(PEX5):c.1619A>G (p.Glu540Gly)
|
rs1460981277
|
|
NM_001351132.2(PEX5):c.1620A>C (p.Glu540Asp)
|
|
|
NM_001351132.2(PEX5):c.1629T>C (p.Ala543=)
|
rs2136255855
|
|
NM_001351132.2(PEX5):c.1631C>T (p.Ala544Val)
|
|
|
NM_001351132.2(PEX5):c.1632G>C (p.Ala544=)
|
rs115338343
|
|
NM_001351132.2(PEX5):c.1632G>T (p.Ala544=)
|
rs115338343
|
|
NM_001351132.2(PEX5):c.1651C>T (p.Leu551Phe)
|
rs2136256584
|
|
NM_001351132.2(PEX5):c.1653C>T (p.Leu551=)
|
rs200215904
|
|
NM_001351132.2(PEX5):c.1656G>T (p.Gln552His)
|
|
|
NM_001351132.2(PEX5):c.1660G>A (p.Gly554Ser)
|
|
|
NM_001351132.2(PEX5):c.1668C>T (p.Ile556=)
|
|
|
NM_001351132.2(PEX5):c.1670G>A (p.Arg557Gln)
|
|
|
NM_001351132.2(PEX5):c.1674C>T (p.Ser558=)
|
|
|
NM_001351132.2(PEX5):c.1675C>T (p.Arg559Cys)
|
|
|
NM_001351132.2(PEX5):c.1679A>G (p.Tyr560Cys)
|
|
|
NM_001351132.2(PEX5):c.1684C>G (p.Leu562Val)
|
rs1945310790
|
|
NM_001351132.2(PEX5):c.1684C>T (p.Leu562=)
|
|
|
NM_001351132.2(PEX5):c.1686G>A (p.Leu562=)
|
|
|
NM_001351132.2(PEX5):c.1687G>T (p.Gly563Cys)
|
|
|
NM_001351132.2(PEX5):c.168A>G (p.Val56=)
|
|
|
NM_001351132.2(PEX5):c.1690A>G (p.Ile564Val)
|
rs778897851
|
|
NM_001351132.2(PEX5):c.1691T>C (p.Ile564Thr)
|
rs1945312349
|
|
NM_001351132.2(PEX5):c.1704C>T (p.Asn568=)
|
|
|
NM_001351132.2(PEX5):c.1708G>A (p.Gly570Arg)
|
|
|
NM_001351132.2(PEX5):c.170C>T (p.Ala57Val)
|
|
|
NM_001351132.2(PEX5):c.1713T>G (p.Ala571=)
|
|
|
NM_001351132.2(PEX5):c.1717C>T (p.Arg573Trp)
|
|
|
NM_001351132.2(PEX5):c.1718+11_1718+14del
|
rs749232654
|
|
NM_001351132.2(PEX5):c.1718+11_1718+14dup
|
rs749232654
|
|
NM_001351132.2(PEX5):c.1718+18G>C
|
|
|
NM_001351132.2(PEX5):c.1718+19A>G
|
|
|
NM_001351132.2(PEX5):c.1718+5G>A
|
rs1085307998
|
|
NM_001351132.2(PEX5):c.1718+7G>A
|
|
|
NM_001351132.2(PEX5):c.1718+8T>G
|
|
|
NM_001351132.2(PEX5):c.1718+9A>G
|
rs1945321190
|
|
NM_001351132.2(PEX5):c.1718+9_1718+10del
|
rs1276135396
|
|
NM_001351132.2(PEX5):c.1718+9_1718+11dup
|
|
|
NM_001351132.2(PEX5):c.1719-10T>G
|
|
|
NM_001351132.2(PEX5):c.1719-10_1719-8del
|
rs1244659564
|
|
NM_001351132.2(PEX5):c.1719-13T>C
|
rs1441424289
|
|
NM_001351132.2(PEX5):c.1719-4A>T
|
|
|
NM_001351132.2(PEX5):c.1719-7del
|
|
|
NM_001351132.2(PEX5):c.1728G>A (p.Val576=)
|
|
|
NM_001351132.2(PEX5):c.1740G>A (p.Leu580=)
|
rs2136262978
|
|
NM_001351132.2(PEX5):c.1744G>T (p.Ala582Ser)
|
rs2136263113
|
|
NM_001351132.2(PEX5):c.1746C>T (p.Ala582=)
|
rs1565723752
|
|
NM_001351132.2(PEX5):c.1767C>T (p.Ser589=)
|
|
|
NM_001351132.2(PEX5):c.1768C>A (p.Arg590=)
|
|
|
NM_001351132.2(PEX5):c.1769G>C (p.Arg590Pro)
|
|
|
NM_001351132.2(PEX5):c.1773C>A (p.Gly591=)
|
|
|
NM_001351132.2(PEX5):c.1776C>G (p.Pro592=)
|
|
|
NM_001351132.2(PEX5):c.1777C>A (p.Arg593=)
|
|
|
NM_001351132.2(PEX5):c.1778G>C (p.Arg593Pro)
|
|
|
NM_001351132.2(PEX5):c.1782T>C (p.Gly594=)
|
|
|
NM_001351132.2(PEX5):c.1794C>T (p.Ala598=)
|
rs778329472
|
|
NM_001351132.2(PEX5):c.1799C>T (p.Ser600Leu)
|
rs748956654
|
|
NM_001351132.2(PEX5):c.1809C>T (p.Ile603=)
|
|
|
NM_001351132.2(PEX5):c.1811G>A (p.Trp604Ter)
|
|
|
NM_001351132.2(PEX5):c.1815C>T (p.Ser605=)
|
|
|
NM_001351132.2(PEX5):c.1819C>G (p.Leu607Val)
|
rs1945371383
|
|
NM_001351132.2(PEX5):c.1821G>C (p.Leu607=)
|
|
|
NM_001351132.2(PEX5):c.182A>G (p.Glu61Gly)
|
|
|
NM_001351132.2(PEX5):c.183+12A>C
|
rs2135890525
|
|
NM_001351132.2(PEX5):c.183+13G>A
|
|
|
NM_001351132.2(PEX5):c.183+15C>A
|
rs1044102845
|
|
NM_001351132.2(PEX5):c.183+15C>G
|
|
|
NM_001351132.2(PEX5):c.183+16T>C
|
|
|
NM_001351132.2(PEX5):c.183+17C>A
|
|
|
NM_001351132.2(PEX5):c.183+4A>G
|
rs2135890266
|
|
NM_001351132.2(PEX5):c.183+6T>G
|
rs1296968716
|
|
NM_001351132.2(PEX5):c.183+7A>G
|
|
|
NM_001351132.2(PEX5):c.183+8G>C
|
|
|
NM_001351132.2(PEX5):c.183+9A>G
|
|
|
NM_001351132.2(PEX5):c.1835C>G (p.Ser612Cys)
|
|
|
NM_001351132.2(PEX5):c.1839G>A (p.Met613Ile)
|
rs750620715
|
|
NM_001351132.2(PEX5):c.183G>A (p.Glu61=)
|
|
|
NM_001351132.2(PEX5):c.184-16A>C
|
|
|
NM_001351132.2(PEX5):c.184-17C>T
|
|
|
NM_001351132.2(PEX5):c.184-20C>A
|
|
|
NM_001351132.2(PEX5):c.184-4del
|
|
|
NM_001351132.2(PEX5):c.184-8T>A
|
|
|
NM_001351132.2(PEX5):c.184-9T>G
|
|
|
NM_001351132.2(PEX5):c.1845C>A (p.Gly615=)
|
|
|
NM_001351132.2(PEX5):c.1850G>C (p.Ser617Thr)
|
rs751637149
|
|
NM_001351132.2(PEX5):c.1850G>T (p.Ser617Ile)
|
rs751637149
|
|
NM_001351132.2(PEX5):c.1852G>A (p.Asp618Asn)
|
|
|
NM_001351132.2(PEX5):c.1859A>G (p.Tyr620Cys)
|
rs2136266140
|
|
NM_001351132.2(PEX5):c.1863G>A (p.Gly621=)
|
|
|
NM_001351132.2(PEX5):c.1866_1868del (p.Ala623del)
|
|
|
NM_001351132.2(PEX5):c.1874C>A (p.Ala625Glu)
|
|
|
NM_001351132.2(PEX5):c.1877_1915dup (p.Pro638_Gln639insArgAspLeuSerThrLeuLeuThrMetPheGlyLeuPro)
|
|
|
NM_001351132.2(PEX5):c.1887C>T (p.Ser629=)
|
|
|
NM_001351132.2(PEX5):c.1897_1900del (p.Thr633fs)
|
rs1183517073
|
|
NM_001351132.2(PEX5):c.1901T>G (p.Met634Arg)
|
rs751798701
|
|
NM_001351132.2(PEX5):c.1903_1906del (p.Phe635fs)
|
|
|
NM_001351132.2(PEX5):c.1909C>T (p.Leu637=)
|
rs2136267479
|
|
NM_001351132.2(PEX5):c.1913C>G (p.Pro638Arg)
|
rs138706552
|
|
NM_001351132.2(PEX5):c.1913C>T (p.Pro638Leu)
|
rs138706552
|
|
NM_001351132.2(PEX5):c.1914C>T (p.Pro638=)
|
|
|
NM_001351132.2(PEX5):c.1917G>C (p.Gln639His)
|
rs1271426444
|
|
NM_001351132.2(PEX5):c.192T>C (p.Ala64=)
|
|
|
NM_001351132.2(PEX5):c.196T>C (p.Phe66Leu)
|
rs757539708
|
|
NM_001351132.2(PEX5):c.1A>G (p.Met1Val)
|
rs2135875571
|
|
NM_001351132.2(PEX5):c.206A>C (p.Asp69Ala)
|
rs2135896856
|
|
NM_001351132.2(PEX5):c.20T>C (p.Val7Ala)
|
|
|
NM_001351132.2(PEX5):c.218C>G (p.Pro73Arg)
|
|
|
NM_001351132.2(PEX5):c.219C>A (p.Pro73=)
|
|
|
NM_001351132.2(PEX5):c.224T>C (p.Val75Ala)
|
rs1941053816
|
|
NM_001351132.2(PEX5):c.225G>C (p.Val75=)
|
rs1941054422
|
|
NM_001351132.2(PEX5):c.229C>T (p.Arg77Cys)
|
rs768373250
|
|
NM_001351132.2(PEX5):c.230G>C (p.Arg77Pro)
|
|
|
NM_001351132.2(PEX5):c.231T>C (p.Arg77=)
|
|
|
NM_001351132.2(PEX5):c.232G>A (p.Ala78Thr)
|
|
|
NM_001351132.2(PEX5):c.234C>T (p.Ala78=)
|
|
|
NM_001351132.2(PEX5):c.237T>G (p.Pro79=)
|
|
|
NM_001351132.2(PEX5):c.241A>G (p.Thr81Ala)
|
|
|
NM_001351132.2(PEX5):c.242C>T (p.Thr81Ile)
|
|
|
NM_001351132.2(PEX5):c.243C>T (p.Thr81=)
|
|
|
NM_001351132.2(PEX5):c.24G>T (p.Glu8Asp)
|
rs1488661702
|
|
NM_001351132.2(PEX5):c.254A>G (p.Asp85Gly)
|
rs768652769
|
|
NM_001351132.2(PEX5):c.257A>T (p.Asp86Val)
|
|
|
NM_001351132.2(PEX5):c.261C>T (p.Leu87=)
|
|
|
NM_001351132.2(PEX5):c.262C>T (p.Leu88=)
|
|
|
NM_001351132.2(PEX5):c.266C>T (p.Ala89Val)
|
|
|
NM_001351132.2(PEX5):c.267T>C (p.Ala89=)
|
|
|
NM_001351132.2(PEX5):c.279G>A (p.Gln93=)
|
|
|
NM_001351132.2(PEX5):c.282T>A (p.Ile94=)
|
|
|
NM_001351132.2(PEX5):c.285G>A (p.Glu95=)
|
|
|
NM_001351132.2(PEX5):c.287A>G (p.Gln96Arg)
|
|
|
NM_001351132.2(PEX5):c.28G>C (p.Glu10Gln)
|
rs747725502
|
|
NM_001351132.2(PEX5):c.292A>C (p.Asn98His)
|
rs374327439
|
|
NM_001351132.2(PEX5):c.297C>A (p.Phe99Leu)
|
rs573650362
|
|
NM_001351132.2(PEX5):c.297C>T (p.Phe99=)
|
|
|
NM_001351132.2(PEX5):c.300C>T (p.Arg100=)
|
|
|
NM_001351132.2(PEX5):c.30del (p.Glu10fs)
|
|
|
NM_001351132.2(PEX5):c.315A>C (p.Arg105Ser)
|
rs2135899269
|
|
NM_001351132.2(PEX5):c.316+11A>G
|
|
|
NM_001351132.2(PEX5):c.316+14C>G
|
|
|
NM_001351132.2(PEX5):c.316+16A>C
|
|
|
NM_001351132.2(PEX5):c.316+19G>A
|
|
|
NM_001351132.2(PEX5):c.316+9A>C
|
|
|
NM_001351132.2(PEX5):c.317-10C>T
|
|
|
NM_001351132.2(PEX5):c.317-11_317-10insGT
|
rs779639697
|
|
NM_001351132.2(PEX5):c.317-16C>G
|
|
|
NM_001351132.2(PEX5):c.317-16C>T
|
|
|
NM_001351132.2(PEX5):c.317-18C>G
|
|
|
NM_001351132.2(PEX5):c.317-18C>T
|
|
|
NM_001351132.2(PEX5):c.317-19TC[4]
|
|
|
NM_001351132.2(PEX5):c.317-19TC[5]
|
rs745564890
|
|
NM_001351132.2(PEX5):c.317-19TC[7]
|
|
|
NM_001351132.2(PEX5):c.317-20T>C
|
|
|
NM_001351132.2(PEX5):c.317-2A>G
|
rs2135903939
|
|
NM_001351132.2(PEX5):c.32G>A (p.Cys11Tyr)
|
|
|
NM_001351132.2(PEX5):c.330A>C (p.Ala110=)
|
|
|
NM_001351132.2(PEX5):c.339C>G (p.Ala113=)
|
|
|
NM_001351132.2(PEX5):c.339C>T (p.Ala113=)
|
|
|
NM_001351132.2(PEX5):c.33C>T (p.Cys11=)
|
|
|
NM_001351132.2(PEX5):c.340T>C (p.Leu114=)
|
|
|
NM_001351132.2(PEX5):c.345T>G (p.Ser115=)
|
|
|
NM_001351132.2(PEX5):c.348G>A (p.Glu116=)
|
|
|
NM_001351132.2(PEX5):c.358C>T (p.Gln120Ter)
|
rs1941140792
|
|
NM_001351132.2(PEX5):c.359A>G (p.Gln120Arg)
|
rs1347906263
|
|
NM_001351132.2(PEX5):c.361G>T (p.Glu121Ter)
|
rs1565673352
|
|
NM_001351132.2(PEX5):c.36G>A (p.Gly12=)
|
rs1940801248
|
|
NM_001351132.2(PEX5):c.36G>C (p.Gly12=)
|
|
|
NM_001351132.2(PEX5):c.37G>A (p.Gly13Ser)
|
|
|
NM_001351132.2(PEX5):c.37G>C (p.Gly13Arg)
|
|
|
NM_001351132.2(PEX5):c.391G>T (p.Val131Leu)
|
|
|
NM_001351132.2(PEX5):c.393A>C (p.Val131=)
|
|
|
NM_001351132.2(PEX5):c.404A>G (p.Tyr135Cys)
|
rs1385787688
|
|
NM_001351132.2(PEX5):c.404A>T (p.Tyr135Phe)
|
rs1385787688
|
|
NM_001351132.2(PEX5):c.414T>A (p.Thr138=)
|
|
|
NM_001351132.2(PEX5):c.416_419del (p.Asp139fs)
|
|
|
NM_001351132.2(PEX5):c.417C>G (p.Asp139Glu)
|
|
|
NM_001351132.2(PEX5):c.417C>T (p.Asp139=)
|
|
|
NM_001351132.2(PEX5):c.42C>T (p.Ala14=)
|
rs1940804674
|
|
NM_001351132.2(PEX5):c.437C>T (p.Ser146Phe)
|
|
|
NM_001351132.2(PEX5):c.448+12T>C
|
|
|
NM_001351132.2(PEX5):c.448+15G>A
|
|
|
NM_001351132.2(PEX5):c.448+18A>G
|
|
|
NM_001351132.2(PEX5):c.448+20A>G
|
rs2135906489
|
|
NM_001351132.2(PEX5):c.448+7C>T
|
|
|
NM_001351132.2(PEX5):c.449-11G>C
|
rs2136073420
|
|
NM_001351132.2(PEX5):c.449-11del
|
|
|
NM_001351132.2(PEX5):c.449-13C>T
|
|
|
NM_001351132.2(PEX5):c.449-14T>C
|
rs1943225638
|
|
NM_001351132.2(PEX5):c.449-16T>C
|
rs2136073334
|
|
NM_001351132.2(PEX5):c.44A>G (p.Asn15Ser)
|
rs951795989
|
|
NM_001351132.2(PEX5):c.450C>T (p.Asp150=)
|
|
|
NM_001351132.2(PEX5):c.451C>T (p.Pro151Ser)
|
|
|
NM_001351132.2(PEX5):c.452C>T (p.Pro151Leu)
|
rs200720523
|
|
NM_001351132.2(PEX5):c.464C>G (p.Ser155Cys)
|
rs1943231620
|
|
NM_001351132.2(PEX5):c.466C>G (p.Pro156Ala)
|
rs2136074053
|
|
NM_001351132.2(PEX5):c.468T>A (p.Pro156=)
|
|
|
NM_001351132.2(PEX5):c.472del (p.Arg158fs)
|
rs2136074154
|
|
NM_001351132.2(PEX5):c.478del (p.Ala160fs)
|
|
|
NM_001351132.2(PEX5):c.48G>A (p.Pro16=)
|
rs147958315
|
|
NM_001351132.2(PEX5):c.48G>C (p.Pro16=)
|
rs147958315
|
|
NM_001351132.2(PEX5):c.498A>G (p.Gln166=)
|
rs756714515
|
|
NM_001351132.2(PEX5):c.500C>G (p.Ser167Ter)
|
|
|
NM_001351132.2(PEX5):c.502GAG[1] (p.Glu169del)
|
rs773404109
|
|
NM_001351132.2(PEX5):c.505G>C (p.Glu169Gln)
|
rs1565693412
|
|
NM_001351132.2(PEX5):c.508_510del (p.Lys170del)
|
|
|
NM_001351132.2(PEX5):c.510G>A (p.Lys170=)
|
rs1943242860
|
|
NM_001351132.2(PEX5):c.511C>T (p.Leu171=)
|
rs1943243303
|
|
NM_001351132.2(PEX5):c.517C>A (p.Leu173Met)
|
rs1943245558
|
|
NM_001351132.2(PEX5):c.517C>T (p.Leu173=)
|
|
|
NM_001351132.2(PEX5):c.519G>A (p.Leu173=)
|
|
|
NM_001351132.2(PEX5):c.531G>A (p.Glu177=)
|
|
|
NM_001351132.2(PEX5):c.531_534dup (p.Thr179fs)
|
rs2136075415
|
|
NM_001351132.2(PEX5):c.533G>A (p.Gly178Glu)
|
rs749729761
|
|
NM_001351132.2(PEX5):c.536C>T (p.Thr179Ile)
|
rs2136075556
|
|
NM_001351132.2(PEX5):c.540C>T (p.Ala180=)
|
rs2136075643
|
|
NM_001351132.2(PEX5):c.544G>A (p.Asp182Asn)
|
|
|
NM_001351132.2(PEX5):c.547C>A (p.Arg183Ser)
|
rs746104983
|
|
NM_001351132.2(PEX5):c.54_69dup (p.Phe24fs)
|
|
|
NM_001351132.2(PEX5):c.551+10G>A
|
rs1394539856
|
|
NM_001351132.2(PEX5):c.551+14_551+25del
|
|
|
NM_001351132.2(PEX5):c.551+17C>T
|
|
|
NM_001351132.2(PEX5):c.551+20T>C
|
|
|
NM_001351132.2(PEX5):c.551+8C>T
|
rs775578165
|
|
NM_001351132.2(PEX5):c.551G>C (p.Trp184Ser)
|
|
|
NM_001351132.2(PEX5):c.552-10C>T
|
|
|
NM_001351132.2(PEX5):c.552-14C>A
|
|
|
NM_001351132.2(PEX5):c.552-1G>A
|
rs1064793563
|
|
NM_001351132.2(PEX5):c.552-4C>T
|
|
|
NM_001351132.2(PEX5):c.552-7G>C
|
|
|
NM_001351132.2(PEX5):c.552-8del
|
rs774656931
|
|
NM_001351132.2(PEX5):c.552G>A (p.Trp184Ter)
|
rs1419213790
|
|
NM_001351132.2(PEX5):c.555T>A (p.Tyr185Ter)
|
|
|
NM_001351132.2(PEX5):c.556G>T (p.Asp186Tyr)
|
|
|
NM_001351132.2(PEX5):c.558T>C (p.Asp186=)
|
rs995809384
|
|
NM_001351132.2(PEX5):c.561A>G (p.Glu187=)
|
rs1159781502
|
|
NM_001351132.2(PEX5):c.564T>C (p.Tyr188=)
|
rs2136142856
|
|
NM_001351132.2(PEX5):c.567T>C (p.His189=)
|
rs1443546589
|
|
NM_001351132.2(PEX5):c.569C>T (p.Pro190Leu)
|
rs2136143100
|
|
NM_001351132.2(PEX5):c.570T>C (p.Pro190=)
|
rs767068406
|
|
NM_001351132.2(PEX5):c.573G>A (p.Glu191=)
|
|
|
NM_001351132.2(PEX5):c.579T>A (p.Asp193Glu)
|
|
|
NM_001351132.2(PEX5):c.57G>A (p.Lys19=)
|
rs781336959
|
|
NM_001351132.2(PEX5):c.594C>T (p.Ala198=)
|
|
|
NM_001351132.2(PEX5):c.596G>A (p.Ser199Asn)
|
rs750906889
|
|
NM_001351132.2(PEX5):c.606G>T (p.Val202=)
|
|
|
NM_001351132.2(PEX5):c.609C>T (p.Ala203=)
|
rs747312170
|
|
NM_001351132.2(PEX5):c.60C>T (p.Leu20=)
|
|
|
NM_001351132.2(PEX5):c.618T>C (p.Asp206=)
|
rs1232020173
|
|
NM_001351132.2(PEX5):c.620A>T (p.Asp207Val)
|
rs1011160954
|
|
NM_001351132.2(PEX5):c.626A>G (p.Lys209Arg)
|
rs748132358
|
|
NM_001351132.2(PEX5):c.62C>T (p.Ala21Val)
|
|
|
NM_001351132.2(PEX5):c.63C>G (p.Ala21=)
|
rs374590365
|
|
NM_001351132.2(PEX5):c.642+12C>A
|
rs2136144500
|
|
NM_001351132.2(PEX5):c.642+12C>T
|
|
|
NM_001351132.2(PEX5):c.642+13C>T
|
|
|
NM_001351132.2(PEX5):c.642+14C>T
|
|
|
NM_001351132.2(PEX5):c.642+18G>A
|
rs1333391326
|
|
NM_001351132.2(PEX5):c.642+18dup
|
|
|
NM_001351132.2(PEX5):c.642+19C>T
|
|
|
NM_001351132.2(PEX5):c.642+20T>G
|
|
|
NM_001351132.2(PEX5):c.642+7del
|
|
|
NM_001351132.2(PEX5):c.642+8A>G
|
|
|
NM_001351132.2(PEX5):c.643-12T>C
|
rs2136150492
|
|
NM_001351132.2(PEX5):c.643-20T>C
|
|
|
NM_001351132.2(PEX5):c.643-22TG[2]
|
rs767919243
|
|
NM_001351132.2(PEX5):c.643-5C>T
|
rs886049826
|
|
NM_001351132.2(PEX5):c.643-6C>T
|
|
|
NM_001351132.2(PEX5):c.645C>A (p.Phe215Leu)
|
rs1944168456
|
|
NM_001351132.2(PEX5):c.651A>G (p.Lys217=)
|
rs2136150959
|
|
NM_001351132.2(PEX5):c.654C>G (p.Phe218Leu)
|
|
|
NM_001351132.2(PEX5):c.654C>T (p.Phe218=)
|
rs752935710
|
|
NM_001351132.2(PEX5):c.660G>A (p.Arg220=)
|
rs541455903
|
|
NM_001351132.2(PEX5):c.669C>T (p.Gly223=)
|
|
|
NM_001351132.2(PEX5):c.670G>T (p.Glu224Ter)
|
|
|
NM_001351132.2(PEX5):c.672A>G (p.Glu224=)
|
|
|
NM_001351132.2(PEX5):c.674_695dup (p.Ser235fs)
|
rs2136151586
|
|
NM_001351132.2(PEX5):c.678G>A (p.Gln226=)
|
|
|
NM_001351132.2(PEX5):c.692C>G (p.Ser231Cys)
|
|
|
NM_001351132.2(PEX5):c.693C>A (p.Ser231=)
|
|
|
NM_001351132.2(PEX5):c.694G>A (p.Gly232Ser)
|
|
|
NM_001351132.2(PEX5):c.695G>A (p.Gly232Asp)
|
|
|
NM_001351132.2(PEX5):c.698C>T (p.Ala233Val)
|
rs2136152339
|
|
NM_001351132.2(PEX5):c.702G>T (p.Gly234=)
|
|
|
NM_001351132.2(PEX5):c.706G>C (p.Gly236Arg)
|
rs2136152526
|
|
NM_001351132.2(PEX5):c.710G>A (p.Arg237Gln)
|
rs1011369978
|
|
NM_001351132.2(PEX5):c.712G>T (p.Ala238Ser)
|
|
|
NM_001351132.2(PEX5):c.715C>T (p.Gln239Ter)
|
|
|
NM_001351132.2(PEX5):c.720A>C (p.Ala240=)
|
|
|
NM_001351132.2(PEX5):c.733G>A (p.Ala245Thr)
|
|
|
NM_001351132.2(PEX5):c.737_738del (p.Glu246fs)
|
|
|
NM_001351132.2(PEX5):c.738G>A (p.Glu246=)
|
|
|
NM_001351132.2(PEX5):c.740_743del (p.Phe247fs)
|
|
|
NM_001351132.2(PEX5):c.745C>G (p.Gln249Glu)
|
rs1442020873
|
|
NM_001351132.2(PEX5):c.753+18T>A
|
|
|
NM_001351132.2(PEX5):c.753+19C>A
|
|
|
NM_001351132.2(PEX5):c.753+1G>A
|
|
|
NM_001351132.2(PEX5):c.753+2T>C
|
|
|
NM_001351132.2(PEX5):c.754-14C>A
|
|
|
NM_001351132.2(PEX5):c.754-18C>G
|
|
|
NM_001351132.2(PEX5):c.754-2A>C
|
|
|
NM_001351132.2(PEX5):c.754-4G>T
|
rs111286659
|
|
NM_001351132.2(PEX5):c.754-8del
|
|
|
NM_001351132.2(PEX5):c.755G>A (p.Gly252Asp)
|
rs1234343542
|
|
NM_001351132.2(PEX5):c.756T>C (p.Gly252=)
|
|
|
NM_001351132.2(PEX5):c.759A>G (p.Thr253=)
|
|
|
NM_001351132.2(PEX5):c.76C>T (p.Gln26Ter)
|
|
|
NM_001351132.2(PEX5):c.777C>T (p.Asp259=)
|
|
|
NM_001351132.2(PEX5):c.786A>G (p.Thr262=)
|
|
|
NM_001351132.2(PEX5):c.793G>A (p.Val265Ile)
|
rs776020873
|
|
NM_001351132.2(PEX5):c.799A>T (p.Thr267Ser)
|
rs1445974761
|
|
NM_001351132.2(PEX5):c.79G>T (p.Asp27Tyr)
|
rs1940819292
|
|
NM_001351132.2(PEX5):c.807C>T (p.Ala269=)
|
|
|
NM_001351132.2(PEX5):c.808C>T (p.Leu270Phe)
|
rs2136158729
|
|
NM_001351132.2(PEX5):c.808dup (p.Leu270fs)
|
rs2136158689
|
|
NM_001351132.2(PEX5):c.80A>G (p.Asp27Gly)
|
rs2135877981
|
|
NM_001351132.2(PEX5):c.822T>A (p.Phe274Leu)
|
|
|
NM_001351132.2(PEX5):c.826C>T (p.Arg276Ter)
|
|
|
NM_001351132.2(PEX5):c.82_83insT (p.Lys28fs)
|
|
|
NM_001351132.2(PEX5):c.831C>A (p.Ala277=)
|
rs747216258
|
|
NM_001351132.2(PEX5):c.834G>A (p.Lys278=)
|
|
|
NM_001351132.2(PEX5):c.837A>G (p.Ser279=)
|
rs2136159396
|
|
NM_001351132.2(PEX5):c.843A>C (p.Ile281=)
|
rs1340349823
|
|
NM_001351132.2(PEX5):c.845A>C (p.Glu282Ala)
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NM_001351132.2(PEX5):c.846+12T>C
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NM_001351132.2(PEX5):c.846+14G>T
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NM_001351132.2(PEX5):c.846+15T>A
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NM_001351132.2(PEX5):c.846+15T>G
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NM_001351132.2(PEX5):c.846+16G>T
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NM_001351132.2(PEX5):c.846+19G>A
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NM_001351132.2(PEX5):c.846+5G>A
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NM_001351132.2(PEX5):c.846G>T (p.Glu282Asp)
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rs2136159660
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NM_001351132.2(PEX5):c.847-11C>T
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NM_001351132.2(PEX5):c.847-2A>G
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NM_001351132.2(PEX5):c.847-7_861del
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NM_001351132.2(PEX5):c.847-9T>C
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NM_001351132.2(PEX5):c.848C>G (p.Ser283Cys)
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rs370010815
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NM_001351132.2(PEX5):c.848C>T (p.Ser283Phe)
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rs370010815
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NM_001351132.2(PEX5):c.855C>T (p.Val285=)
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NM_001351132.2(PEX5):c.856G>A (p.Asp286Asn)
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rs1246877750
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NM_001351132.2(PEX5):c.878C>G (p.Ala293Gly)
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rs1216991743
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NM_001351132.2(PEX5):c.88del (p.Leu30fs)
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NM_001351132.2(PEX5):c.893T>C (p.Met298Thr)
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NM_001351132.2(PEX5):c.897A>G (p.Ala299=)
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NM_001351132.2(PEX5):c.901C>G (p.Arg301Gly)
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rs767306549
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NM_001351132.2(PEX5):c.902G>A (p.Arg301Gln)
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rs2136175132
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NM_001351132.2(PEX5):c.912G>A (p.Glu304=)
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NM_001351132.2(PEX5):c.915C>T (p.Ala305=)
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NM_001351132.2(PEX5):c.919C>T (p.Pro307Ser)
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NM_001351132.2(PEX5):c.91C>T (p.Arg31Trp)
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rs767406855
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NM_001351132.2(PEX5):c.930T>C (p.Ser310=)
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rs2136175490
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NM_001351132.2(PEX5):c.933C>G (p.Asp311Glu)
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rs1446059699
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NM_001351132.2(PEX5):c.933C>T (p.Asp311=)
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rs1446059699
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NM_001351132.2(PEX5):c.93G>A (p.Arg31=)
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NM_001351132.2(PEX5):c.942C>T (p.Asp314=)
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NM_001351132.2(PEX5):c.944_945dup (p.Thr316fs)
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NM_001351132.2(PEX5):c.947C>T (p.Thr316Met)
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rs747529713
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NM_001351132.2(PEX5):c.948G>A (p.Thr316=)
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NM_001351132.2(PEX5):c.948G>T (p.Thr316=)
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NM_001351132.2(PEX5):c.951A>G (p.Ser317=)
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NM_001351132.2(PEX5):c.956C>A (p.Thr319Asn)
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rs1310273629
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NM_001351132.2(PEX5):c.960T>C (p.Tyr320=)
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NM_001351132.2(PEX5):c.961_963del (p.Asp321del)
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rs1256295273
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NM_001351132.2(PEX5):c.965A>G (p.Lys322Arg)
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rs770028664
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NM_001351132.2(PEX5):c.966+12A>C
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NM_001351132.2(PEX5):c.966+14T>A
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NM_001351132.2(PEX5):c.966+15C>G
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NM_001351132.2(PEX5):c.966+15_966+16del
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rs753821907
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NM_001351132.2(PEX5):c.966+16T>C
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NM_001351132.2(PEX5):c.966+1G>C
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rs2136176386
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NM_001351132.2(PEX5):c.966+24dup
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rs1944415107
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NM_001351132.2(PEX5):c.967-10T>G
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rs2136226017
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NM_001351132.2(PEX5):c.967-17A>T
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NM_001351132.2(PEX5):c.967-18C>T
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rs1944977827
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NM_001351132.2(PEX5):c.967-1G>A
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NM_001351132.2(PEX5):c.967-1_971del
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NM_001351132.2(PEX5):c.967-20C>T
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NM_001351132.2(PEX5):c.967-4G>A
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NM_001351132.2(PEX5):c.967-9T>A
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NM_001351132.2(PEX5):c.967G>C (p.Gly323Arg)
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NM_001351132.2(PEX5):c.969G>A (p.Gly323=)
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NM_001351132.2(PEX5):c.969G>C (p.Gly323=)
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NM_001351132.2(PEX5):c.973C>G (p.Gln325Glu)
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rs1369524555
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NM_001351132.2(PEX5):c.979GAG[2] (p.Glu329del)
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NM_001351132.2(PEX5):c.984G>A (p.Glu328=)
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rs2136226421
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NM_001351132.2(PEX5):c.992C>G (p.Pro331Arg)
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NM_001351132.2(PEX5):c.998G>T (p.Arg333Leu)
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rs59209175
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NM_001351132.2(PEX5):c.99G>C (p.Glu33Asp)
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