NM_000466.3(PEX1):c.2271G>C (p.Leu757Phe)
|
rs142838522
|
0.00270
|
NM_000466.3(PEX1):c.330C>G (p.Pro110=)
|
rs71560821
|
0.00218
|
NM_000466.3(PEX1):c.1579A>G (p.Thr527Ala)
|
rs144942544
|
0.00217
|
NM_000466.3(PEX1):c.2442C>T (p.Phe814=)
|
rs145430946
|
0.00216
|
NM_000466.3(PEX1):c.637C>T (p.Leu213Phe)
|
rs141798874
|
0.00185
|
NM_000466.3(PEX1):c.130-9T>C
|
rs377337949
|
0.00157
|
NM_000466.3(PEX1):c.1011G>A (p.Lys337=)
|
rs142018583
|
0.00155
|
NM_000466.3(PEX1):c.2645C>T (p.Pro882Leu)
|
rs141764012
|
0.00066
|
NM_000466.3(PEX1):c.645C>G (p.Thr215=)
|
rs151041559
|
0.00066
|
NM_000466.3(PEX1):c.1360-4G>T
|
rs199716270
|
0.00038
|
NM_000466.3(PEX1):c.2584-9del
|
rs886062504
|
0.00034
|
NM_000466.3(PEX1):c.939T>C (p.His313=)
|
rs199647157
|
0.00034
|
NM_000466.3(PEX1):c.1360-7C>T
|
rs371890000
|
0.00029
|
NM_000466.3(PEX1):c.1725G>A (p.Leu575=)
|
rs150667796
|
0.00022
|
NM_000466.3(PEX1):c.2640T>C (p.Tyr880=)
|
rs201719745
|
0.00022
|
NM_000466.3(PEX1):c.2045C>T (p.Ala682Val)
|
rs145350631
|
0.00021
|
NM_000466.3(PEX1):c.2200G>A (p.Val734Ile)
|
rs141510219
|
0.00016
|
NM_000466.3(PEX1):c.293C>T (p.Ser98Phe)
|
rs369100815
|
0.00016
|
NM_000466.3(PEX1):c.627G>A (p.Met209Ile)
|
rs200752969
|
0.00016
|
NM_000466.3(PEX1):c.2558T>C (p.Met853Thr)
|
rs143283146
|
0.00015
|
NM_000466.3(PEX1):c.1249G>A (p.Asp417Asn)
|
rs143273433
|
0.00014
|
NM_000466.3(PEX1):c.1271T>C (p.Ile424Thr)
|
rs201807430
|
0.00013
|
NM_000466.3(PEX1):c.891A>G (p.Ile297Met)
|
rs143206380
|
0.00013
|
NM_000466.3(PEX1):c.1587+5T>C
|
rs199526105
|
0.00011
|
NM_000466.3(PEX1):c.1700T>G (p.Leu567Trp)
|
rs199989676
|
0.00011
|
NM_000466.3(PEX1):c.1815A>G (p.Lys605=)
|
rs112688556
|
0.00011
|
NM_000466.3(PEX1):c.2060G>A (p.Arg687Gln)
|
rs201443294
|
0.00011
|
NM_000466.3(PEX1):c.88C>T (p.His30Tyr)
|
rs375045292
|
0.00011
|
NM_000466.3(PEX1):c.2509C>T (p.Leu837=)
|
rs371701421
|
0.00010
|
NM_000466.3(PEX1):c.1369A>G (p.Ile457Val)
|
rs561561515
|
0.00007
|
NM_000466.3(PEX1):c.2021C>T (p.Pro674Leu)
|
rs141509344
|
0.00007
|
NM_000466.3(PEX1):c.2465T>G (p.Leu822Arg)
|
rs545731416
|
0.00007
|
NM_000466.3(PEX1):c.1042A>G (p.Thr348Ala)
|
rs371309198
|
0.00006
|
NM_000466.3(PEX1):c.1256G>A (p.Arg419Lys)
|
rs748937542
|
0.00006
|
NM_000466.3(PEX1):c.1284C>T (p.Ala428=)
|
rs145153467
|
0.00006
|
NM_000466.3(PEX1):c.1717A>G (p.Ser573Gly)
|
rs774417644
|
0.00006
|
NM_000466.3(PEX1):c.2057A>G (p.Gln686Arg)
|
rs201016626
|
0.00006
|
NM_000466.3(PEX1):c.2750C>T (p.Ala917Val)
|
rs371327573
|
0.00006
|
NM_000466.3(PEX1):c.674T>A (p.Ile225Asn)
|
rs372485912
|
0.00006
|
NM_000466.3(PEX1):c.1441G>A (p.Val481Ile)
|
rs139919229
|
0.00005
|
NM_000466.3(PEX1):c.147G>A (p.Val49=)
|
rs202230667
|
0.00005
|
NM_000466.3(PEX1):c.305C>A (p.Ser102Tyr)
|
rs143369243
|
0.00005
|
NM_000466.3(PEX1):c.2059C>T (p.Arg687Trp)
|
rs138008298
|
0.00004
|
NM_000466.3(PEX1):c.2296G>A (p.Asp766Asn)
|
rs374010060
|
0.00004
|
NM_000466.3(PEX1):c.2675G>A (p.Gly892Glu)
|
rs769356901
|
0.00004
|
NM_000466.3(PEX1):c.2719-3T>C
|
rs1034823292
|
0.00004
|
NM_000466.3(PEX1):c.611G>A (p.Arg204Lys)
|
rs369126779
|
0.00004
|
NM_000466.3(PEX1):c.952G>A (p.Asp318Asn)
|
rs754893068
|
0.00004
|
NM_000466.3(PEX1):c.1283C>T (p.Ala428Val)
|
rs376883207
|
0.00003
|
NM_000466.3(PEX1):c.148G>A (p.Val50Ile)
|
rs768702189
|
0.00003
|
NM_000466.3(PEX1):c.1913A>C (p.Glu638Ala)
|
rs775544654
|
0.00003
|
NM_000466.3(PEX1):c.2240A>C (p.Glu747Ala)
|
rs200207576
|
0.00003
|
NM_000466.3(PEX1):c.2268A>G (p.Lys756=)
|
rs1434174453
|
0.00003
|
NM_000466.3(PEX1):c.254G>A (p.Gly85Glu)
|
rs771224088
|
0.00003
|
NM_000466.3(PEX1):c.2646G>A (p.Pro882=)
|
rs775421085
|
0.00003
|
NM_000466.3(PEX1):c.544C>T (p.Arg182Cys)
|
rs771535312
|
0.00003
|
NM_000466.3(PEX1):c.721T>C (p.Ser241Pro)
|
rs753823218
|
0.00003
|
NM_000466.3(PEX1):c.721del (p.Ser241fs)
|
rs894289737
|
0.00003
|
NM_000466.3(PEX1):c.889A>G (p.Ile297Val)
|
rs181796768
|
0.00003
|
NM_000466.3(PEX1):c.1240A>G (p.Ile414Val)
|
rs759491353
|
0.00002
|
NM_000466.3(PEX1):c.134A>G (p.Gln45Arg)
|
rs758309091
|
0.00002
|
NM_000466.3(PEX1):c.1952_1960dup (p.Trp653_Met654insThrValTrp)
|
rs398123408
|
0.00002
|
NM_000466.3(PEX1):c.2072C>T (p.Ala691Val)
|
rs150351763
|
0.00002
|
NM_000466.3(PEX1):c.2455C>T (p.Arg819Cys)
|
rs983157165
|
0.00002
|
NM_000466.3(PEX1):c.2708T>A (p.Ile903Lys)
|
rs1305700033
|
0.00002
|
NM_000466.3(PEX1):c.357G>A (p.Leu119=)
|
rs1485077349
|
0.00002
|
NM_000466.3(PEX1):c.665C>T (p.Thr222Ile)
|
rs773922257
|
0.00002
|
NM_000466.3(PEX1):c.1021C>G (p.Pro341Ala)
|
rs137856931
|
0.00001
|
NM_000466.3(PEX1):c.1099C>A (p.Gln367Lys)
|
rs140990231
|
0.00001
|
NM_000466.3(PEX1):c.1166A>G (p.Asn389Ser)
|
rs1179674772
|
0.00001
|
NM_000466.3(PEX1):c.1187A>G (p.Asn396Ser)
|
rs398123407
|
0.00001
|
NM_000466.3(PEX1):c.1199A>T (p.Tyr400Phe)
|
rs772086409
|
0.00001
|
NM_000466.3(PEX1):c.1277T>C (p.Met426Thr)
|
rs780611674
|
0.00001
|
NM_000466.3(PEX1):c.1285G>A (p.Val429Ile)
|
rs780349018
|
0.00001
|
NM_000466.3(PEX1):c.1324C>T (p.Pro442Ser)
|
rs560969584
|
0.00001
|
NM_000466.3(PEX1):c.1407G>T (p.Trp469Cys)
|
rs746349696
|
0.00001
|
NM_000466.3(PEX1):c.1412A>G (p.Gln471Arg)
|
rs1219227236
|
0.00001
|
NM_000466.3(PEX1):c.1507A>G (p.Ile503Val)
|
rs771520057
|
0.00001
|
NM_000466.3(PEX1):c.1516T>C (p.Ser506Pro)
|
rs778220793
|
0.00001
|
NM_000466.3(PEX1):c.1609A>G (p.Lys537Glu)
|
rs1378023176
|
0.00001
|
NM_000466.3(PEX1):c.1620C>G (p.Asn540Lys)
|
rs917874479
|
0.00001
|
NM_000466.3(PEX1):c.1621A>G (p.Ser541Gly)
|
rs1204334087
|
0.00001
|
NM_000466.3(PEX1):c.1671-13A>G
|
rs757960956
|
0.00001
|
NM_000466.3(PEX1):c.1690G>A (p.Val564Ile)
|
rs183965018
|
0.00001
|
NM_000466.3(PEX1):c.169T>C (p.Phe57Leu)
|
rs1162642408
|
0.00001
|
NM_000466.3(PEX1):c.1714C>G (p.His572Asp)
|
rs1167491787
|
0.00001
|
NM_000466.3(PEX1):c.1750A>G (p.Met584Val)
|
rs758085238
|
0.00001
|
NM_000466.3(PEX1):c.1754C>T (p.Ser585Phe)
|
rs1792225580
|
0.00001
|
NM_000466.3(PEX1):c.1767A>T (p.Gly589=)
|
rs1364124177
|
0.00001
|
NM_000466.3(PEX1):c.1772G>A (p.Arg591Lys)
|
rs754337792
|
0.00001
|
NM_000466.3(PEX1):c.1777G>A (p.Gly593Arg)
|
rs61750407
|
0.00001
|
NM_000466.3(PEX1):c.1810G>A (p.Gly604Arg)
|
rs148427398
|
0.00001
|
NM_000466.3(PEX1):c.1851T>A (p.Phe617Leu)
|
rs762766482
|
0.00001
|
NM_000466.3(PEX1):c.1916A>T (p.Asn639Ile)
|
rs200438144
|
0.00001
|
NM_000466.3(PEX1):c.1945T>G (p.Ser649Ala)
|
rs1251466114
|
0.00001
|
NM_000466.3(PEX1):c.1991T>C (p.Leu664Pro)
|
rs121434455
|
0.00001
|
NM_000466.3(PEX1):c.2026C>T (p.His676Tyr)
|
rs759330849
|
0.00001
|
NM_000466.3(PEX1):c.2084T>C (p.Met695Thr)
|
rs112747515
|
0.00001
|
NM_000466.3(PEX1):c.2138A>G (p.Gln713Arg)
|
rs1356967048
|
0.00001
|
NM_000466.3(PEX1):c.2174C>T (p.Ala725Val)
|
rs1268325040
|
0.00001
|
NM_000466.3(PEX1):c.2195A>G (p.Gln732Arg)
|
rs147069266
|
0.00001
|
NM_000466.3(PEX1):c.2235A>T (p.Arg745Ser)
|
rs963232359
|
0.00001
|
NM_000466.3(PEX1):c.2278G>C (p.Asp760His)
|
rs757149759
|
0.00001
|
NM_000466.3(PEX1):c.2332G>A (p.Gly778Arg)
|
rs921866912
|
0.00001
|
NM_000466.3(PEX1):c.2363T>C (p.Val788Ala)
|
rs886062505
|
0.00001
|
NM_000466.3(PEX1):c.2375T>C (p.Ile792Thr)
|
rs747899377
|
0.00001
|
NM_000466.3(PEX1):c.2408C>T (p.Thr803Ile)
|
rs750911436
|
0.00001
|
NM_000466.3(PEX1):c.2456G>A (p.Arg819His)
|
rs376273608
|
0.00001
|
NM_000466.3(PEX1):c.2518_2520del (p.Asp840del)
|
rs1385204416
|
0.00001
|
NM_000466.3(PEX1):c.2554C>T (p.Leu852Phe)
|
rs202090176
|
0.00001
|
NM_000466.3(PEX1):c.2636T>C (p.Leu879Ser)
|
rs1362906637
|
0.00001
|
NM_000466.3(PEX1):c.263A>T (p.Asn88Ile)
|
rs763218526
|
0.00001
|
NM_000466.3(PEX1):c.2687G>A (p.Arg896Gln)
|
rs748798206
|
0.00001
|
NM_000466.3(PEX1):c.2707A>G (p.Ile903Val)
|
rs1009218596
|
0.00001
|
NM_000466.3(PEX1):c.2743A>T (p.Ile915Phe)
|
rs376029287
|
0.00001
|
NM_000466.3(PEX1):c.2744T>C (p.Ile915Thr)
|
rs757305859
|
0.00001
|
NM_000466.3(PEX1):c.2767C>T (p.Arg923Trp)
|
rs780992963
|
0.00001
|
NM_000466.3(PEX1):c.2783+4G>A
|
rs751416309
|
0.00001
|
NM_000466.3(PEX1):c.289T>C (p.Cys97Arg)
|
rs1792936652
|
0.00001
|
NM_000466.3(PEX1):c.404G>A (p.Arg135Gln)
|
rs754529845
|
0.00001
|
NM_000466.3(PEX1):c.440T>C (p.Val147Ala)
|
rs750928084
|
0.00001
|
NM_000466.3(PEX1):c.457A>G (p.Ile153Val)
|
rs200106153
|
0.00001
|
NM_000466.3(PEX1):c.458T>C (p.Ile153Thr)
|
rs760942926
|
0.00001
|
NM_000466.3(PEX1):c.541A>C (p.Thr181Pro)
|
rs775093154
|
0.00001
|
NM_000466.3(PEX1):c.659C>T (p.Ser220Leu)
|
rs759048090
|
0.00001
|
NM_000466.3(PEX1):c.688G>A (p.Glu230Lys)
|
rs781371997
|
0.00001
|
NM_000466.3(PEX1):c.693C>T (p.Asn231=)
|
rs1463386429
|
0.00001
|
NM_000466.3(PEX1):c.706_720del (p.Pro236_Ser240del)
|
rs754890130
|
0.00001
|
NM_000466.3(PEX1):c.724G>A (p.Val242Ile)
|
rs764044654
|
0.00001
|
NM_000466.3(PEX1):c.803C>G (p.Thr268Ser)
|
rs780119112
|
0.00001
|
NM_000466.3(PEX1):c.814G>A (p.Ala272Thr)
|
rs528610267
|
0.00001
|
NM_000466.3(PEX1):c.830A>G (p.Gln277Arg)
|
rs886062506
|
0.00001
|
NM_000466.3(PEX1):c.831G>A (p.Gln277=)
|
rs1210178752
|
0.00001
|
NM_000466.3(PEX1):c.853A>G (p.Asn285Asp)
|
rs1407539383
|
0.00001
|
NM_000466.3(PEX1):c.854A>G (p.Asn285Ser)
|
rs781103940
|
0.00001
|
NM_000466.3(PEX1):c.953A>G (p.Asp318Gly)
|
rs751341597
|
0.00001
|
GRCh37/hg19 7q21.2(chr7:92119403-92149555)x3
|
|
|
NC_000007.13:g.(?_92116771)_(92151579_?)dup
|
|
|
NC_000007.14:g.(?_92487437)_(92487561_?)del
|
|
|
NM_000466.2(PEX1):c.2010_2018del (p.Ala672_Pro674del)
|
rs1357462196
|
|
NM_000466.3(PEX1):c.103C>T (p.Leu35Phe)
|
|
|
NM_000466.3(PEX1):c.1057T>G (p.Leu353Val)
|
|
|
NM_000466.3(PEX1):c.1060T>C (p.Ser354Pro)
|
|
|
NM_000466.3(PEX1):c.1070A>C (p.Lys357Thr)
|
rs2116243553
|
|
NM_000466.3(PEX1):c.1077G>A (p.Lys359=)
|
rs138905930
|
|
NM_000466.3(PEX1):c.1077G>T (p.Lys359Asn)
|
rs138905930
|
|
NM_000466.3(PEX1):c.1081A>G (p.Met361Val)
|
rs746906648
|
|
NM_000466.3(PEX1):c.108G>A (p.Val36=)
|
rs2116298440
|
|
NM_000466.3(PEX1):c.1096G>C (p.Asp366His)
|
|
|
NM_000466.3(PEX1):c.1096G>T (p.Asp366Tyr)
|
|
|
NM_000466.3(PEX1):c.1101_1121del (p.Gln367_Asp373del)
|
rs1554375280
|
|
NM_000466.3(PEX1):c.1104A>C (p.Lys368Asn)
|
rs2116243334
|
|
NM_000466.3(PEX1):c.1109T>C (p.Ile370Thr)
|
rs1562866173
|
|
NM_000466.3(PEX1):c.1111A>G (p.Arg371Gly)
|
|
|
NM_000466.3(PEX1):c.1111A>T (p.Arg371Trp)
|
rs769973410
|
|
NM_000466.3(PEX1):c.1135G>A (p.Glu379Lys)
|
|
|
NM_000466.3(PEX1):c.1141G>C (p.Ala381Pro)
|
|
|
NM_000466.3(PEX1):c.1141G>T (p.Ala381Ser)
|
rs540780825
|
|
NM_000466.3(PEX1):c.1142C>T (p.Ala381Val)
|
|
|
NM_000466.3(PEX1):c.1156G>C (p.Val386Leu)
|
rs2116242910
|
|
NM_000466.3(PEX1):c.115C>A (p.Leu39Met)
|
|
|
NM_000466.3(PEX1):c.1175A>G (p.Glu392Gly)
|
rs1792836885
|
|
NM_000466.3(PEX1):c.1177G>A (p.Glu393Lys)
|
rs2116242745
|
|
NM_000466.3(PEX1):c.1183A>G (p.Asn395Asp)
|
rs769902926
|
|
NM_000466.3(PEX1):c.1184A>T (p.Asn395Ile)
|
rs1008956990
|
|
NM_000466.3(PEX1):c.1190C>T (p.Ala397Val)
|
rs2116242607
|
|
NM_000466.3(PEX1):c.1193T>A (p.Ile398Asn)
|
|
|
NM_000466.3(PEX1):c.119A>G (p.His40Arg)
|
|
|
NM_000466.3(PEX1):c.1214A>C (p.Glu405Ala)
|
|
|
NM_000466.3(PEX1):c.1229G>A (p.Gly410Glu)
|
rs2116242366
|
|
NM_000466.3(PEX1):c.122TGC[3] (p.Leu42dup)
|
rs1554378340
|
|
NM_000466.3(PEX1):c.1233A>G (p.Lys411=)
|
|
|
NM_000466.3(PEX1):c.1246G>A (p.Asp416Asn)
|
rs1562862971
|
|
NM_000466.3(PEX1):c.1279C>A (p.His427Asn)
|
rs2116221515
|
|
NM_000466.3(PEX1):c.1282G>A (p.Ala428Thr)
|
|
|
NM_000466.3(PEX1):c.129+10C>T
|
rs886062508
|
|
NM_000466.3(PEX1):c.129+8G>A
|
rs1793393956
|
|
NM_000466.3(PEX1):c.1323T>G (p.Ile441Met)
|
rs2116221247
|
|
NM_000466.3(PEX1):c.1327A>G (p.Arg443Gly)
|
rs2116221209
|
|
NM_000466.3(PEX1):c.1331C>T (p.Ser444Phe)
|
rs1792597851
|
|
NM_000466.3(PEX1):c.1343A>T (p.Gln448Leu)
|
|
|
NM_000466.3(PEX1):c.1354A>C (p.Asn452His)
|
rs2116220996
|
|
NM_000466.3(PEX1):c.1359+15A>G
|
|
|
NM_000466.3(PEX1):c.1359+5G>A
|
rs727504077
|
|
NM_000466.3(PEX1):c.1380A>C (p.Glu460Asp)
|
rs565049190
|
|
NM_000466.3(PEX1):c.1396T>C (p.Phe466Leu)
|
|
|
NM_000466.3(PEX1):c.1397T>G (p.Phe466Cys)
|
rs1040716320
|
|
NM_000466.3(PEX1):c.1415A>G (p.Gln472Arg)
|
|
|
NM_000466.3(PEX1):c.1417T>C (p.Ser473Pro)
|
rs1474508557
|
|
NM_000466.3(PEX1):c.1429A>G (p.Met477Val)
|
|
|
NM_000466.3(PEX1):c.1432C>T (p.Leu478Phe)
|
|
|
NM_000466.3(PEX1):c.1434T>G (p.Leu478=)
|
rs757668497
|
|
NM_000466.3(PEX1):c.1445_1446insTGA (p.Ile482_Ser483insGlu)
|
rs2116209401
|
|
NM_000466.3(PEX1):c.144A>C (p.Glu48Asp)
|
rs1793080526
|
|
NM_000466.3(PEX1):c.1472A>C (p.Glu491Ala)
|
|
|
NM_000466.3(PEX1):c.147_149del (p.Val50del)
|
|
|
NM_000466.3(PEX1):c.1484-11_1484-6del
|
rs766638581
|
|
NM_000466.3(PEX1):c.1484-4A>G
|
|
|
NM_000466.3(PEX1):c.1489A>C (p.Lys497Gln)
|
|
|
NM_000466.3(PEX1):c.1490A>G (p.Lys497Arg)
|
|
|
NM_000466.3(PEX1):c.1494A>T (p.Glu498Asp)
|
|
|
NM_000466.3(PEX1):c.1502_1513del (p.Leu501_Val504del)
|
|
|
NM_000466.3(PEX1):c.1524AAAAGA[1] (p.508EK[1])
|
rs1554373613
|
|
NM_000466.3(PEX1):c.1526A>C (p.Lys509Thr)
|
|
|
NM_000466.3(PEX1):c.1535A>T (p.Asp512Val)
|
|
|
NM_000466.3(PEX1):c.154A>G (p.Ser52Gly)
|
|
|
NM_000466.3(PEX1):c.1562A>G (p.Asn521Ser)
|
|
|
NM_000466.3(PEX1):c.1582A>G (p.Ile528Val)
|
rs1792432441
|
|
NM_000466.3(PEX1):c.1587+6A>G
|
|
|
NM_000466.3(PEX1):c.1588-7A>G
|
|
|
NM_000466.3(PEX1):c.1593_1595del (p.Leu532del)
|
rs1554373273
|
|
NM_000466.3(PEX1):c.1600C>G (p.Pro534Ala)
|
rs1419015282
|
|
NM_000466.3(PEX1):c.1600C>T (p.Pro534Ser)
|
rs1419015282
|
|
NM_000466.3(PEX1):c.1601C>G (p.Pro534Arg)
|
rs983690128
|
|
NM_000466.3(PEX1):c.1603A>G (p.Met535Val)
|
|
|
NM_000466.3(PEX1):c.1605G>A (p.Met535Ile)
|
rs2116195142
|
|
NM_000466.3(PEX1):c.1615G>A (p.Glu539Lys)
|
|
|
NM_000466.3(PEX1):c.1620C>T (p.Asn540=)
|
|
|
NM_000466.3(PEX1):c.1623T>G (p.Ser541Arg)
|
|
|
NM_000466.3(PEX1):c.1627G>A (p.Glu543Lys)
|
rs767103504
|
|
NM_000466.3(PEX1):c.1638T>A (p.Phe546Leu)
|
rs1397315670
|
|
NM_000466.3(PEX1):c.1639A>G (p.Ile547Val)
|
|
|
NM_000466.3(PEX1):c.1645C>T (p.Pro549Ser)
|
rs1053943553
|
|
NM_000466.3(PEX1):c.1646C>G (p.Pro549Arg)
|
rs751131750
|
|
NM_000466.3(PEX1):c.1647T>A (p.Pro549=)
|
|
|
NM_000466.3(PEX1):c.1657C>A (p.Leu553Met)
|
|
|
NM_000466.3(PEX1):c.1661G>A (p.Ser554Asn)
|
|
|
NM_000466.3(PEX1):c.1663T>C (p.Ser555Pro)
|
rs773827098
|
|
NM_000466.3(PEX1):c.1668G>C (p.Leu556Phe)
|
rs1792345170
|
|
NM_000466.3(PEX1):c.1670+5G>T
|
rs201343162
|
|
NM_000466.3(PEX1):c.1679A>G (p.Asn560Ser)
|
rs2116181845
|
|
NM_000466.3(PEX1):c.1688G>A (p.Gly563Asp)
|
rs2116181769
|
|
NM_000466.3(PEX1):c.1699T>G (p.Leu567Val)
|
rs775665629
|
|
NM_000466.3(PEX1):c.1702G>C (p.Glu568Gln)
|
|
|
NM_000466.3(PEX1):c.1706A>C (p.His569Pro)
|
|
|
NM_000466.3(PEX1):c.1716C>A (p.His572Gln)
|
rs1792228135
|
|
NM_000466.3(PEX1):c.1729C>A (p.Arg577Ser)
|
rs200991412
|
|
NM_000466.3(PEX1):c.1730G>A (p.Arg577His)
|
|
|
NM_000466.3(PEX1):c.1741C>T (p.Arg581Trp)
|
|
|
NM_000466.3(PEX1):c.1742G>A (p.Arg581Gln)
|
rs370483961
|
|
NM_000466.3(PEX1):c.1743_1796del (p.Gln582_Gly599del)
|
rs1554372756
|
|
NM_000466.3(PEX1):c.1746G>C (p.Gln582His)
|
|
|
NM_000466.3(PEX1):c.1754C>A (p.Ser585Tyr)
|
rs1792225580
|
|
NM_000466.3(PEX1):c.1763C>T (p.Ala588Val)
|
rs2116181053
|
|
NM_000466.3(PEX1):c.1804-12A>G
|
rs143041528
|
|
NM_000466.3(PEX1):c.1823T>C (p.Leu608Ser)
|
|
|
NM_000466.3(PEX1):c.1829_1830del (p.Lys610fs)
|
rs1562857333
|
|
NM_000466.3(PEX1):c.1832C>T (p.Ala611Val)
|
rs2116176413
|
|
NM_000466.3(PEX1):c.1834A>G (p.Ile612Val)
|
|
|
NM_000466.3(PEX1):c.1867C>A (p.His623Asn)
|
rs1792183513
|
|
NM_000466.3(PEX1):c.1873G>C (p.Glu625Gln)
|
rs2116176145
|
|
NM_000466.3(PEX1):c.1875G>C (p.Glu625Asp)
|
rs775491706
|
|
NM_000466.3(PEX1):c.1877G>C (p.Arg626Thr)
|
rs1310822252
|
|
NM_000466.3(PEX1):c.1892C>A (p.Ala631Asp)
|
rs745554964
|
|
NM_000466.3(PEX1):c.1898G>A (p.Arg633Gln)
|
|
|
NM_000466.3(PEX1):c.1899A>T (p.Arg633=)
|
rs2116175839
|
|
NM_000466.3(PEX1):c.1900+4T>C
|
rs2116175794
|
|
NM_000466.3(PEX1):c.1901-14T>C
|
rs1792111444
|
|
NM_000466.3(PEX1):c.1901G>A (p.Gly634Glu)
|
|
|
NM_000466.3(PEX1):c.1918A>T (p.Ile640Leu)
|
|
|
NM_000466.3(PEX1):c.1921C>G (p.Gln641Glu)
|
|
|
NM_000466.3(PEX1):c.1928C>A (p.Thr643Asn)
|
|
|
NM_000466.3(PEX1):c.1933G>C (p.Glu645Gln)
|
|
|
NM_000466.3(PEX1):c.1946C>T (p.Ser649Leu)
|
|
|
NM_000466.3(PEX1):c.1951G>A (p.Ala651Thr)
|
rs1562856189
|
|
NM_000466.3(PEX1):c.1954G>T (p.Val652Leu)
|
rs559310827
|
|
NM_000466.3(PEX1):c.1962G>A (p.Met654Ile)
|
|
|
NM_000466.3(PEX1):c.1966C>T (p.Pro656Ser)
|
|
|
NM_000466.3(PEX1):c.1970C>T (p.Ser657Phe)
|
|
|
NM_000466.3(PEX1):c.1975G>A (p.Val659Ile)
|
rs193221288
|
|
NM_000466.3(PEX1):c.1975G>T (p.Val659Phe)
|
rs193221288
|
|
NM_000466.3(PEX1):c.1978C>G (p.Leu660Val)
|
rs2116165647
|
|
NM_000466.3(PEX1):c.1987G>A (p.Asp663Asn)
|
|
|
NM_000466.3(PEX1):c.199A>G (p.Ser67Gly)
|
|
|
NM_000466.3(PEX1):c.2012C>G (p.Pro671Arg)
|
|
|
NM_000466.3(PEX1):c.2014G>A (p.Ala672Thr)
|
|
|
NM_000466.3(PEX1):c.2015C>A (p.Ala672Asp)
|
rs897278975
|
|
NM_000466.3(PEX1):c.2017G>C (p.Val673Leu)
|
|
|
NM_000466.3(PEX1):c.2019C>G (p.Val673=)
|
|
|
NM_000466.3(PEX1):c.2024A>G (p.Glu675Gly)
|
rs1792100189
|
|
NM_000466.3(PEX1):c.2039_2050del (p.Pro680_Val683del)
|
rs1554372090
|
|
NM_000466.3(PEX1):c.2044G>A (p.Ala682Thr)
|
rs2116165019
|
|
NM_000466.3(PEX1):c.2060G>T (p.Arg687Leu)
|
|
|
NM_000466.3(PEX1):c.2069A>G (p.His690Arg)
|
|
|
NM_000466.3(PEX1):c.2071+3A>G
|
rs1189294296
|
|
NM_000466.3(PEX1):c.2072-12_2072-9del
|
|
|
NM_000466.3(PEX1):c.2086A>G (p.Ile696Val)
|
rs1792018651
|
|
NM_000466.3(PEX1):c.2093A>G (p.Glu698Gly)
|
rs1792018002
|
|
NM_000466.3(PEX1):c.2099T>C (p.Ile700Thr)
|
rs1792017598
|
|
NM_000466.3(PEX1):c.2114T>G (p.Leu705Trp)
|
rs863225084
|
|
NM_000466.3(PEX1):c.2126T>G (p.Ile709Ser)
|
|
|
NM_000466.3(PEX1):c.2134A>G (p.Ser712Gly)
|
|
|
NM_000466.3(PEX1):c.2135G>T (p.Ser712Ile)
|
|
|
NM_000466.3(PEX1):c.2140_2145dup (p.712_713SQ[3])
|
rs1554371691
|
|
NM_000466.3(PEX1):c.2145G>T (p.Gln715His)
|
rs1292385792
|
|
NM_000466.3(PEX1):c.2165T>C (p.Leu722Pro)
|
|
|
NM_000466.3(PEX1):c.217G>A (p.Val73Met)
|
|
|
NM_000466.3(PEX1):c.218T>C (p.Val73Ala)
|
rs1793077054
|
|
NM_000466.3(PEX1):c.2215C>T (p.Pro739Ser)
|
|
|
NM_000466.3(PEX1):c.2226G>C (p.Gln742His)
|
|
|
NM_000466.3(PEX1):c.2227-11T>A
|
rs760316851
|
|
NM_000466.3(PEX1):c.2227-3T>A
|
|
|
NM_000466.3(PEX1):c.2227G>A (p.Glu743Lys)
|
|
|
NM_000466.3(PEX1):c.2234G>T (p.Arg745Ile)
|
rs1562854190
|
|
NM_000466.3(PEX1):c.2240A>G (p.Glu747Gly)
|
|
|
NM_000466.3(PEX1):c.2249G>A (p.Cys750Tyr)
|
|
|
NM_000466.3(PEX1):c.2262_2264del (p.Lys754del)
|
rs1554371157
|
|
NM_000466.3(PEX1):c.2275T>C (p.Cys759Arg)
|
|
|
NM_000466.3(PEX1):c.2276G>A (p.Cys759Tyr)
|
|
|
NM_000466.3(PEX1):c.2284A>C (p.Asn762His)
|
|
|
NM_000466.3(PEX1):c.2306T>C (p.Leu769Pro)
|
rs767182250
|
|
NM_000466.3(PEX1):c.230A>G (p.Asn77Ser)
|
|
|
NM_000466.3(PEX1):c.2312A>G (p.His771Arg)
|
rs1791952164
|
|
NM_000466.3(PEX1):c.2336T>C (p.Phe779Ser)
|
|
|
NM_000466.3(PEX1):c.233G>C (p.Arg78Thr)
|
rs2116268284
|
|
NM_000466.3(PEX1):c.2359C>T (p.Leu787Phe)
|
|
|
NM_000466.3(PEX1):c.235C>G (p.Gln79Glu)
|
|
|
NM_000466.3(PEX1):c.2368C>G (p.Arg790Gly)
|
rs61750417
|
|
NM_000466.3(PEX1):c.2369G>A (p.Arg790Gln)
|
|
|
NM_000466.3(PEX1):c.2377C>T (p.His793Tyr)
|
|
|
NM_000466.3(PEX1):c.2384G>A (p.Arg795Gln)
|
rs368954584
|
|
NM_000466.3(PEX1):c.2389T>A (p.Ser797Thr)
|
rs1024476499
|
|
NM_000466.3(PEX1):c.2393G>A (p.Arg798His)
|
|
|
NM_000466.3(PEX1):c.2400_2402dup (p.Ile801dup)
|
rs1554371019
|
|
NM_000466.3(PEX1):c.2416+4T>C
|
|
|
NM_000466.3(PEX1):c.2417-5A>G
|
|
|
NM_000466.3(PEX1):c.2427A>C (p.Leu809Phe)
|
|
|
NM_000466.3(PEX1):c.2443C>G (p.Gln815Glu)
|
|
|
NM_000466.3(PEX1):c.2449G>A (p.Ala817Thr)
|
rs2116145984
|
|
NM_000466.3(PEX1):c.2458G>A (p.Gly820Arg)
|
|
|
NM_000466.3(PEX1):c.2468C>T (p.Pro823Leu)
|
rs2116145764
|
|
NM_000466.3(PEX1):c.2480G>A (p.Arg827Gln)
|
|
|
NM_000466.3(PEX1):c.2480G>C (p.Arg827Pro)
|
rs752937649
|
|
NM_000466.3(PEX1):c.2489A>G (p.Asn830Ser)
|
|
|
NM_000466.3(PEX1):c.2492T>C (p.Leu831Pro)
|
|
|
NM_000466.3(PEX1):c.2500C>A (p.Pro834Thr)
|
|
|
NM_000466.3(PEX1):c.2506G>C (p.Asp836His)
|
|
|
NM_000466.3(PEX1):c.2536C>T (p.His846Tyr)
|
rs2116145200
|
|
NM_000466.3(PEX1):c.2542G>T (p.Val848Phe)
|
|
|
NM_000466.3(PEX1):c.2575C>A (p.Pro859Thr)
|
|
|
NM_000466.3(PEX1):c.2584-10del
|
rs5885806
|
|
NM_000466.3(PEX1):c.2584-11_2584-10del
|
rs5885806
|
|
NM_000466.3(PEX1):c.2584-9_2584-8del
|
rs1554370144
|
|
NM_000466.3(PEX1):c.260C>T (p.Ser87Leu)
|
|
|
NM_000466.3(PEX1):c.2615G>A (p.Arg872Gln)
|
|
|
NM_000466.3(PEX1):c.2620A>G (p.Arg874Gly)
|
|
|
NM_000466.3(PEX1):c.2627G>T (p.Gly876Val)
|
rs545382069
|
|
NM_000466.3(PEX1):c.2633TGT[1] (p.Leu879del)
|
rs886043984
|
|
NM_000466.3(PEX1):c.2638T>A (p.Tyr880Asn)
|
|
|
NM_000466.3(PEX1):c.2667A>T (p.Leu889Phe)
|
rs2116132673
|
|
NM_000466.3(PEX1):c.2687G>T (p.Arg896Leu)
|
|
|
NM_000466.3(PEX1):c.2689G>C (p.Glu897Gln)
|
rs2116132462
|
|
NM_000466.3(PEX1):c.2693G>A (p.Ser898Asn)
|
rs1791831263
|
|
NM_000466.3(PEX1):c.2701A>C (p.Asn901His)
|
|
|
NM_000466.3(PEX1):c.2708T>C (p.Ile903Thr)
|
|
|
NM_000466.3(PEX1):c.2714T>A (p.Val905Asp)
|
rs2116132179
|
|
NM_000466.3(PEX1):c.2719-4A>G
|
|
|
NM_000466.3(PEX1):c.2726A>G (p.Glu909Gly)
|
|
|
NM_000466.3(PEX1):c.273G>A (p.Gln91=)
|
rs1562869817
|
|
NM_000466.3(PEX1):c.2761G>A (p.Ala921Thr)
|
rs2116110846
|
|
NM_000466.3(PEX1):c.2783+6T>C
|
rs1585224298
|
|
NM_000466.3(PEX1):c.287C>G (p.Pro96Arg)
|
rs1562868017
|
|
NM_000466.3(PEX1):c.296A>T (p.His99Leu)
|
rs1562868002
|
|
NM_000466.3(PEX1):c.300_302del (p.Val101del)
|
|
|
NM_000466.3(PEX1):c.301G>A (p.Val101Ile)
|
rs2116253380
|
|
NM_000466.3(PEX1):c.317T>G (p.Val106Gly)
|
|
|
NM_000466.3(PEX1):c.319G>A (p.Glu107Lys)
|
rs1272833716
|
|
NM_000466.3(PEX1):c.322G>A (p.Val108Met)
|
|
|
NM_000466.3(PEX1):c.323T>C (p.Val108Ala)
|
|
|
NM_000466.3(PEX1):c.337G>A (p.Ala113Thr)
|
|
|
NM_000466.3(PEX1):c.340G>T (p.Asp114Tyr)
|
|
|
NM_000466.3(PEX1):c.346T>C (p.Trp116Arg)
|
|
|
NM_000466.3(PEX1):c.363G>A (p.Leu121=)
|
rs200866361
|
|
NM_000466.3(PEX1):c.370G>A (p.Val124Ile)
|
rs1792895303
|
|
NM_000466.3(PEX1):c.379G>A (p.Glu127Lys)
|
|
|
NM_000466.3(PEX1):c.385C>T (p.His129Tyr)
|
|
|
NM_000466.3(PEX1):c.400A>G (p.Ile134Val)
|
rs1346290048
|
|
NM_000466.3(PEX1):c.401T>C (p.Ile134Thr)
|
|
|
NM_000466.3(PEX1):c.429T>A (p.Phe143Leu)
|
|
|
NM_000466.3(PEX1):c.431C>T (p.Pro144Leu)
|
rs1792891356
|
|
NM_000466.3(PEX1):c.445C>A (p.Gln149Lys)
|
|
|
NM_000466.3(PEX1):c.452C>T (p.Thr151Met)
|
|
|
NM_000466.3(PEX1):c.453G>A (p.Thr151=)
|
rs368714078
|
|
NM_000466.3(PEX1):c.455A>G (p.Tyr152Cys)
|
rs1792889273
|
|
NM_000466.3(PEX1):c.464T>C (p.Ile155Thr)
|
rs1562867275
|
|
NM_000466.3(PEX1):c.468A>G (p.Gln156=)
|
rs149729088
|
|
NM_000466.3(PEX1):c.472+4G>A
|
rs2116248481
|
|
NM_000466.3(PEX1):c.472+5G>A
|
rs1792887658
|
|
NM_000466.3(PEX1):c.475G>A (p.Ala159Thr)
|
rs372455445
|
|
NM_000466.3(PEX1):c.475G>T (p.Ala159Ser)
|
rs372455445
|
|
NM_000466.3(PEX1):c.484C>T (p.Pro162Ser)
|
rs2116247732
|
|
NM_000466.3(PEX1):c.487G>C (p.Ala163Pro)
|
rs750376002
|
|
NM_000466.3(PEX1):c.509A>T (p.Glu170Val)
|
|
|
NM_000466.3(PEX1):c.515A>T (p.Asp172Val)
|
|
|
NM_000466.3(PEX1):c.525C>A (p.Leu175=)
|
rs886043502
|
|
NM_000466.3(PEX1):c.535C>T (p.Pro179Ser)
|
rs760387811
|
|
NM_000466.3(PEX1):c.545G>A (p.Arg182His)
|
|
|
NM_000466.3(PEX1):c.545G>C (p.Arg182Pro)
|
rs199591182
|
|
NM_000466.3(PEX1):c.547C>G (p.Arg183Gly)
|
rs149806989
|
|
NM_000466.3(PEX1):c.548G>A (p.Arg183Gln)
|
|
|
NM_000466.3(PEX1):c.561T>G (p.Asn187Lys)
|
rs944593088
|
|
NM_000466.3(PEX1):c.578A>G (p.Asp193Gly)
|
rs886062507
|
|
NM_000466.3(PEX1):c.601A>G (p.Ser201Gly)
|
|
|
NM_000466.3(PEX1):c.608G>A (p.Gly203Glu)
|
rs755103969
|
|
NM_000466.3(PEX1):c.617A>G (p.Gln206Arg)
|
|
|
NM_000466.3(PEX1):c.630G>C (p.Met210Ile)
|
rs1562866915
|
|
NM_000466.3(PEX1):c.631A>G (p.Lys211Glu)
|
|
|
NM_000466.3(PEX1):c.642A>C (p.Gln214His)
|
rs760441307
|
|
NM_000466.3(PEX1):c.647A>G (p.Lys216Arg)
|
rs1792871862
|
|
NM_000466.3(PEX1):c.652C>G (p.Leu218Val)
|
rs1226753246
|
|
NM_000466.3(PEX1):c.686A>G (p.Asn229Ser)
|
|
|
NM_000466.3(PEX1):c.704T>C (p.Ile235Thr)
|
|
|
NM_000466.3(PEX1):c.716C>T (p.Ser239Leu)
|
|
|
NM_000466.3(PEX1):c.742A>C (p.Met248Leu)
|
|
|
NM_000466.3(PEX1):c.753C>T (p.Ser251=)
|
rs1554375514
|
|
NM_000466.3(PEX1):c.851A>G (p.Asp284Gly)
|
|
|
NM_000466.3(PEX1):c.852C>A (p.Asp284Glu)
|
rs1792859390
|
|
NM_000466.3(PEX1):c.859T>G (p.Phe287Val)
|
rs1792858913
|
|
NM_000466.3(PEX1):c.881C>G (p.Pro294Arg)
|
|
|
NM_000466.3(PEX1):c.896A>G (p.Asn299Ser)
|
|
|
NM_000466.3(PEX1):c.898G>T (p.Ala300Ser)
|
rs751506204
|
|
NM_000466.3(PEX1):c.907A>G (p.Thr303Ala)
|
|
|
NM_000466.3(PEX1):c.920A>C (p.His307Pro)
|
|
|
NM_000466.3(PEX1):c.920A>G (p.His307Arg)
|
|
|
NM_000466.3(PEX1):c.927C>G (p.His309Gln)
|
rs2116244426
|
|
NM_000466.3(PEX1):c.945T>G (p.Phe315Leu)
|
rs1792852764
|
|
NM_000466.3(PEX1):c.947C>T (p.Pro316Leu)
|
rs1296643317
|
|
NM_000466.3(PEX1):c.968A>T (p.Asp323Val)
|
|
|
NM_000466.3(PEX1):c.96G>A (p.Pro32=)
|
rs1445565547
|
|
NM_000466.3(PEX1):c.973G>C (p.Glu325Gln)
|
|
|
NM_000466.3(PEX1):c.977C>T (p.Pro326Leu)
|
rs1341957716
|
|
NM_000466.3(PEX1):c.97C>T (p.Arg33Trp)
|
|
|
NM_000466.3(PEX1):c.981C>G (p.Ser327Arg)
|
rs370441413
|
|