NM_000466.3(PEX1):c.1671-7T>C
|
rs74519968
|
0.01312
|
NM_000466.3(PEX1):c.1521G>C (p.Trp507Cys)
|
rs112822975
|
0.00803
|
NM_000466.3(PEX1):c.2271G>C (p.Leu757Phe)
|
rs142838522
|
0.00270
|
NM_000466.3(PEX1):c.934A>G (p.Ile312Val)
|
rs146312634
|
0.00223
|
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.1797A>G (p.Gly599=)
|
rs76986636
|
0.00140
|
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.1085C>T (p.Ser362Leu)
|
rs138758170
|
0.00057
|
NM_000466.3(PEX1):c.2718+3A>G
|
rs370536529
|
0.00040
|
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.273+12T>C
|
rs377192432
|
0.00027
|
NM_000466.3(PEX1):c.2640T>C (p.Tyr880=)
|
rs201719745
|
0.00022
|
NM_000466.3(PEX1):c.1268A>G (p.Asn423Ser)
|
rs200857848
|
0.00021
|
NM_000466.3(PEX1):c.2045C>T (p.Ala682Val)
|
rs145350631
|
0.00021
|
NM_000466.3(PEX1):c.129+19G>A
|
rs763458226
|
0.00020
|
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.159C>T (p.His53=)
|
rs200950057
|
0.00014
|
NM_000466.3(PEX1):c.786G>A (p.Glu262=)
|
rs770453102
|
0.00014
|
NM_000466.3(PEX1):c.223G>A (p.Glu75Lys)
|
rs759993457
|
0.00012
|
NM_000466.3(PEX1):c.1360-17A>G
|
rs372821961
|
0.00011
|
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.88C>T (p.His30Tyr)
|
rs375045292
|
0.00011
|
NM_000466.3(PEX1):c.2509C>T (p.Leu837=)
|
rs371701421
|
0.00010
|
NM_000466.3(PEX1):c.666T>C (p.Thr222=)
|
rs145609203
|
0.00010
|
NM_000466.3(PEX1):c.2227-7T>C
|
rs767127036
|
0.00009
|
NM_000466.3(PEX1):c.1659G>C (p.Leu553=)
|
rs562108145
|
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.1284C>T (p.Ala428=)
|
rs145153467
|
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.1803+14G>A
|
rs376403633
|
0.00005
|
NM_000466.3(PEX1):c.129+16C>G
|
rs376609246
|
0.00004
|
NM_000466.3(PEX1):c.130-18C>A
|
rs532589095
|
0.00004
|
NM_000466.3(PEX1):c.1670+19A>G
|
rs201646121
|
0.00004
|
NM_000466.3(PEX1):c.1827C>T (p.Ala609=)
|
rs766421421
|
0.00004
|
NM_000466.3(PEX1):c.1901-18C>T
|
rs375207681
|
0.00004
|
NM_000466.3(PEX1):c.2046G>A (p.Ala682=)
|
rs144845259
|
0.00004
|
NM_000466.3(PEX1):c.2124G>C (p.Leu708=)
|
rs200258130
|
0.00004
|
NM_000466.3(PEX1):c.2296G>A (p.Asp766Asn)
|
rs374010060
|
0.00004
|
NM_000466.3(PEX1):c.1059A>G (p.Leu353=)
|
rs774522579
|
0.00003
|
NM_000466.3(PEX1):c.1281T>C (p.His427=)
|
rs979077056
|
0.00003
|
NM_000466.3(PEX1):c.1360-19C>G
|
rs760820104
|
0.00003
|
NM_000466.3(PEX1):c.1587+7G>A
|
rs371765274
|
0.00003
|
NM_000466.3(PEX1):c.1995C>T (p.Asp665=)
|
rs758706584
|
0.00003
|
NM_000466.3(PEX1):c.2028T>C (p.His676=)
|
rs774256047
|
0.00003
|
NM_000466.3(PEX1):c.2121A>G (p.Ala707=)
|
rs771334207
|
0.00003
|
NM_000466.3(PEX1):c.2584-13_2584-12insG
|
rs955834633
|
0.00003
|
NM_000466.3(PEX1):c.2646G>A (p.Pro882=)
|
rs775421085
|
0.00003
|
NM_000466.3(PEX1):c.363G>T (p.Leu121=)
|
rs200866361
|
0.00003
|
NM_000466.3(PEX1):c.721T>C (p.Ser241Pro)
|
rs753823218
|
0.00003
|
NM_000466.3(PEX1):c.1020T>C (p.Ser340=)
|
rs761181376
|
0.00002
|
NM_000466.3(PEX1):c.1359+16T>C
|
rs201631453
|
0.00002
|
NM_000466.3(PEX1):c.1486C>T (p.Leu496=)
|
rs746430468
|
0.00002
|
NM_000466.3(PEX1):c.1494A>G (p.Glu498=)
|
rs774980172
|
0.00002
|
NM_000466.3(PEX1):c.1566G>C (p.Leu522Phe)
|
rs145471560
|
0.00002
|
NM_000466.3(PEX1):c.1635C>T (p.Asp545=)
|
rs759202828
|
0.00002
|
NM_000466.3(PEX1):c.1900+7G>A
|
rs1474660103
|
0.00002
|
NM_000466.3(PEX1):c.2072-17A>G
|
rs557824423
|
0.00002
|
NM_000466.3(PEX1):c.2268A>G (p.Lys756=)
|
rs1434174453
|
0.00002
|
NM_000466.3(PEX1):c.2269T>C (p.Leu757=)
|
rs776758878
|
0.00002
|
NM_000466.3(PEX1):c.2715C>G (p.Val905=)
|
rs748602242
|
0.00002
|
NM_000466.3(PEX1):c.2719-18del
|
rs779261740
|
0.00002
|
NM_000466.3(PEX1):c.477A>C (p.Ala159=)
|
rs759628709
|
0.00002
|
NM_000466.3(PEX1):c.665C>T (p.Thr222Ile)
|
rs773922257
|
0.00002
|
NM_000466.3(PEX1):c.897C>T (p.Asn299=)
|
rs559305030
|
0.00002
|
NM_000466.3(PEX1):c.966T>C (p.Phe322=)
|
rs375550740
|
0.00002
|
NM_000466.3(PEX1):c.111C>G (p.Ala37=)
|
rs1412682486
|
0.00001
|
NM_000466.3(PEX1):c.1188T>C (p.Asn396=)
|
rs747010300
|
0.00001
|
NM_000466.3(PEX1):c.1240-8A>C
|
rs1439218691
|
0.00001
|
NM_000466.3(PEX1):c.126G>T (p.Leu42=)
|
rs1304440662
|
0.00001
|
NM_000466.3(PEX1):c.129+12G>A
|
rs1417437414
|
0.00001
|
NM_000466.3(PEX1):c.129+7T>G
|
rs765006313
|
0.00001
|
NM_000466.3(PEX1):c.129+9C>T
|
rs761519653
|
0.00001
|
NM_000466.3(PEX1):c.130-13C>G
|
rs747033841
|
0.00001
|
NM_000466.3(PEX1):c.1324C>T (p.Pro442Ser)
|
rs560969584
|
0.00001
|
NM_000466.3(PEX1):c.132T>C (p.Asn44=)
|
rs1793081038
|
0.00001
|
NM_000466.3(PEX1):c.1359+10A>G
|
rs1452023751
|
0.00001
|
NM_000466.3(PEX1):c.1395A>G (p.Val465=)
|
rs746561219
|
0.00001
|
NM_000466.3(PEX1):c.1404A>G (p.Ser468=)
|
rs1488590344
|
0.00001
|
NM_000466.3(PEX1):c.1483+8C>T
|
rs911755069
|
0.00001
|
NM_000466.3(PEX1):c.1567C>T (p.Leu523=)
|
rs757119959
|
0.00001
|
NM_000466.3(PEX1):c.1587+11G>A
|
rs1792431360
|
0.00001
|
NM_000466.3(PEX1):c.1662C>T (p.Ser554=)
|
rs763624262
|
0.00001
|
NM_000466.3(PEX1):c.1671-13A>G
|
rs757960956
|
0.00001
|
NM_000466.3(PEX1):c.1689C>T (p.Gly563=)
|
rs776917285
|
0.00001
|
NM_000466.3(PEX1):c.1695C>T (p.Ser565=)
|
rs760925480
|
0.00001
|
NM_000466.3(PEX1):c.1767A>T (p.Gly589=)
|
rs1364124177
|
0.00001
|
NM_000466.3(PEX1):c.1791C>T (p.Leu597=)
|
rs1370887577
|
0.00001
|
NM_000466.3(PEX1):c.1804-16A>T
|
rs1313790749
|
0.00001
|
NM_000466.3(PEX1):c.1901-8G>A
|
rs1260085410
|
0.00001
|
NM_000466.3(PEX1):c.1980G>A (p.Leu660=)
|
rs1486515280
|
0.00001
|
NM_000466.3(PEX1):c.1981C>T (p.Leu661=)
|
rs1480419846
|
0.00001
|
NM_000466.3(PEX1):c.1986T>C (p.Asp662=)
|
rs747406256
|
0.00001
|
NM_000466.3(PEX1):c.2072-6T>C
|
rs761399118
|
0.00001
|
NM_000466.3(PEX1):c.2084T>C (p.Met695Thr)
|
rs112747515
|
0.00001
|
NM_000466.3(PEX1):c.2226+8A>T
|
rs772716358
|
0.00001
|
NM_000466.3(PEX1):c.2280T>C (p.Asp760=)
|
rs749049962
|
0.00001
|
NM_000466.3(PEX1):c.2295C>T (p.Thr765=)
|
rs376748473
|
0.00001
|
NM_000466.3(PEX1):c.2382T>C (p.Ser794=)
|
rs1242105055
|
0.00001
|
NM_000466.3(PEX1):c.2392C>T (p.Arg798Cys)
|
rs61750419
|
0.00001
|
NM_000466.3(PEX1):c.2416+10A>G
|
rs762189230
|
0.00001
|
NM_000466.3(PEX1):c.2457C>T (p.Arg819=)
|
rs779477506
|
0.00001
|
NM_000466.3(PEX1):c.2484T>C (p.Ser828=)
|
rs759689915
|
0.00001
|
NM_000466.3(PEX1):c.2632C>T (p.Leu878=)
|
rs766615075
|
0.00001
|
NM_000466.3(PEX1):c.2655A>G (p.Thr885=)
|
rs759281351
|
0.00001
|
NM_000466.3(PEX1):c.267G>A (p.Gly89=)
|
rs1323919866
|
0.00001
|
NM_000466.3(PEX1):c.2718+9T>A
|
rs758628728
|
0.00001
|
NM_000466.3(PEX1):c.2719-18T>C
|
rs772778880
|
0.00001
|
NM_000466.3(PEX1):c.2719-19C>G
|
rs762582964
|
0.00001
|
NM_000466.3(PEX1):c.274-5T>C
|
rs766795557
|
0.00001
|
NM_000466.3(PEX1):c.2742C>T (p.Tyr914=)
|
rs779097376
|
0.00001
|
NM_000466.3(PEX1):c.2783+11T>A
|
rs762637904
|
0.00001
|
NM_000466.3(PEX1):c.282C>G (p.Leu94=)
|
rs201368809
|
0.00001
|
NM_000466.3(PEX1):c.357+14A>G
|
rs1243475329
|
0.00001
|
NM_000466.3(PEX1):c.358-13C>G
|
rs749180235
|
0.00001
|
NM_000466.3(PEX1):c.358-7G>T
|
rs1286759742
|
0.00001
|
NM_000466.3(PEX1):c.393A>G (p.Leu131=)
|
rs780791624
|
0.00001
|
NM_000466.3(PEX1):c.472+13G>A
|
rs1792887180
|
0.00001
|
NM_000466.3(PEX1):c.498T>C (p.Tyr166=)
|
rs1427788462
|
0.00001
|
NM_000466.3(PEX1):c.513T>C (p.Thr171=)
|
rs1306750859
|
0.00001
|
NM_000466.3(PEX1):c.516C>T (p.Asp172=)
|
rs776426017
|
0.00001
|
NM_000466.3(PEX1):c.579T>C (p.Asp193=)
|
rs1562866985
|
0.00001
|
NM_000466.3(PEX1):c.609A>G (p.Gly203=)
|
rs1421454418
|
0.00001
|
NM_000466.3(PEX1):c.651A>G (p.Gln217=)
|
rs1476909174
|
0.00001
|
NM_000466.3(PEX1):c.693C>T (p.Asn231=)
|
rs1463386429
|
0.00001
|
NM_000466.3(PEX1):c.789A>T (p.Thr263=)
|
rs564163221
|
0.00001
|
NM_000466.3(PEX1):c.803C>G (p.Thr268Ser)
|
rs780119112
|
0.00001
|
NM_000466.3(PEX1):c.831G>A (p.Gln277=)
|
rs1210178752
|
0.00001
|
NM_000466.3(PEX1):c.834A>T (p.Ser278=)
|
rs1477748762
|
0.00001
|
NM_000466.3(PEX1):c.862A>C (p.Arg288=)
|
rs754695892
|
0.00001
|
NM_000466.3(PEX1):c.867A>G (p.Val289=)
|
rs1357434321
|
0.00001
|
NM_000466.3(PEX1):c.879A>G (p.Gln293=)
|
rs989737484
|
0.00001
|
NM_000466.3(PEX1):c.894T>C (p.Tyr298=)
|
rs1792856461
|
0.00001
|
NM_000466.3(PEX1):c.900G>A (p.Ala300=)
|
rs372013709
|
0.00001
|
NM_000466.3(PEX1):c.1014A>G (p.Leu338=)
|
rs764541484
|
|
NM_000466.3(PEX1):c.102T>A (p.Arg34=)
|
rs2116298466
|
|
NM_000466.3(PEX1):c.1032G>A (p.Gln344=)
|
|
|
NM_000466.3(PEX1):c.1035A>G (p.Gln345=)
|
|
|
NM_000466.3(PEX1):c.1038T>C (p.Ser346=)
|
|
|
NM_000466.3(PEX1):c.1056G>A (p.Val352=)
|
rs1348024001
|
|
NM_000466.3(PEX1):c.105C>G (p.Leu35=)
|
rs975387176
|
|
NM_000466.3(PEX1):c.105C>T (p.Leu35=)
|
|
|
NM_000466.3(PEX1):c.1074G>A (p.Glu358=)
|
|
|
NM_000466.3(PEX1):c.1077G>T (p.Lys359Asn)
|
rs138905930
|
|
NM_000466.3(PEX1):c.1086A>C (p.Ser362=)
|
|
|
NM_000466.3(PEX1):c.1092A>G (p.Pro364=)
|
rs2116243378
|
|
NM_000466.3(PEX1):c.1116A>G (p.Ser372=)
|
|
|
NM_000466.3(PEX1):c.1125T>C (p.Asn375=)
|
rs1585254314
|
|
NM_000466.3(PEX1):c.1142C>G (p.Ala381Gly)
|
|
|
NM_000466.3(PEX1):c.1152A>G (p.Leu384=)
|
rs776933950
|
|
NM_000466.3(PEX1):c.1161C>A (p.Val387=)
|
|
|
NM_000466.3(PEX1):c.1170A>G (p.Gly390=)
|
|
|
NM_000466.3(PEX1):c.1180T>C (p.Leu394=)
|
rs1202226565
|
|
NM_000466.3(PEX1):c.1185C>T (p.Asn395=)
|
|
|
NM_000466.3(PEX1):c.1218T>C (p.Val406=)
|
rs2116242424
|
|
NM_000466.3(PEX1):c.1224T>C (p.His408=)
|
rs745690908
|
|
NM_000466.3(PEX1):c.1230G>A (p.Gly410=)
|
rs539382251
|
|
NM_000466.3(PEX1):c.1239+10A>C
|
rs2116242233
|
|
NM_000466.3(PEX1):c.1239+10A>G
|
|
|
NM_000466.3(PEX1):c.1239+11A>G
|
|
|
NM_000466.3(PEX1):c.1239+11del
|
rs764454264
|
|
NM_000466.3(PEX1):c.1239+17T>A
|
|
|
NM_000466.3(PEX1):c.1239+17T>C
|
|
|
NM_000466.3(PEX1):c.1239+8T>C
|
|
|
NM_000466.3(PEX1):c.1240-15A>G
|
|
|
NM_000466.3(PEX1):c.1240-19_1240-16del
|
rs1218585650
|
|
NM_000466.3(PEX1):c.1240-20T>G
|
rs1792604603
|
|
NM_000466.3(PEX1):c.1240-7A>C
|
rs1226446593
|
|
NM_000466.3(PEX1):c.1245A>G (p.Pro415=)
|
|
|
NM_000466.3(PEX1):c.124C>T (p.Leu42=)
|
rs2116298363
|
|
NM_000466.3(PEX1):c.1251C>T (p.Asp417=)
|
rs1458830864
|
|
NM_000466.3(PEX1):c.1264C>T (p.Leu422=)
|
|
|
NM_000466.3(PEX1):c.1266A>C (p.Leu422=)
|
|
|
NM_000466.3(PEX1):c.1284C>A (p.Ala428=)
|
|
|
NM_000466.3(PEX1):c.129+10C>G
|
rs886062508
|
|
NM_000466.3(PEX1):c.129+10C>T
|
rs886062508
|
|
NM_000466.3(PEX1):c.129+11G>A
|
|
|
NM_000466.3(PEX1):c.129+13C>T
|
|
|
NM_000466.3(PEX1):c.129+16C>T
|
|
|
NM_000466.3(PEX1):c.129+17G>A
|
|
|
NM_000466.3(PEX1):c.129+18A>G
|
|
|
NM_000466.3(PEX1):c.129+7T>C
|
rs765006313
|
|
NM_000466.3(PEX1):c.129+8G>A
|
rs1793393956
|
|
NM_000466.3(PEX1):c.1290C>A (p.Val430=)
|
rs1230907353
|
|
NM_000466.3(PEX1):c.1290C>G (p.Val430=)
|
rs1230907353
|
|
NM_000466.3(PEX1):c.1290C>T (p.Val430=)
|
|
|
NM_000466.3(PEX1):c.130-10A>G
|
|
|
NM_000466.3(PEX1):c.130-15_130-7dup
|
rs2116268826
|
|
NM_000466.3(PEX1):c.130-17A>G
|
rs1206974534
|
|
NM_000466.3(PEX1):c.130-20C>G
|
|
|
NM_000466.3(PEX1):c.130-4A>G
|
|
|
NM_000466.3(PEX1):c.130-5A>C
|
rs764946946
|
|
NM_000466.3(PEX1):c.130-7T>C
|
|
|
NM_000466.3(PEX1):c.1314C>T (p.Thr438=)
|
|
|
NM_000466.3(PEX1):c.1326A>G (p.Pro442=)
|
|
|
NM_000466.3(PEX1):c.1333C>T (p.Leu445=)
|
rs1358993243
|
|
NM_000466.3(PEX1):c.1335A>G (p.Leu445=)
|
|
|
NM_000466.3(PEX1):c.1338G>A (p.Lys446=)
|
rs543863652
|
|
NM_000466.3(PEX1):c.1347T>C (p.Pro449=)
|
rs1476938711
|
|
NM_000466.3(PEX1):c.1347T>G (p.Pro449=)
|
rs1476938711
|
|
NM_000466.3(PEX1):c.1359+11AT[3]
|
|
|
NM_000466.3(PEX1):c.1359+13A>G
|
|
|
NM_000466.3(PEX1):c.1359+14T>C
|
|
|
NM_000466.3(PEX1):c.1359+17A>G
|
|
|
NM_000466.3(PEX1):c.1360-4G>A
|
rs199716270
|
|
NM_000466.3(PEX1):c.1360-5G>C
|
rs2116209932
|
|
NM_000466.3(PEX1):c.1360-8T>C
|
|
|
NM_000466.3(PEX1):c.1365A>G (p.Lys455=)
|
rs1792475306
|
|
NM_000466.3(PEX1):c.1377A>G (p.Glu459=)
|
|
|
NM_000466.3(PEX1):c.1380A>C (p.Glu460Asp)
|
rs565049190
|
|
NM_000466.3(PEX1):c.1401T>C (p.Tyr467=)
|
rs1792473177
|
|
NM_000466.3(PEX1):c.1410A>G (p.Leu470=)
|
rs1441446202
|
|
NM_000466.3(PEX1):c.1413G>A (p.Gln471=)
|
rs1354951609
|
|
NM_000466.3(PEX1):c.141A>C (p.Ile47=)
|
|
|
NM_000466.3(PEX1):c.1422T>C (p.Thr474=)
|
rs1792471058
|
|
NM_000466.3(PEX1):c.1428C>A (p.Thr476=)
|
|
|
NM_000466.3(PEX1):c.1428C>T (p.Thr476=)
|
|
|
NM_000466.3(PEX1):c.1434T>G (p.Leu478=)
|
rs757668497
|
|
NM_000466.3(PEX1):c.1437T>A (p.Pro479=)
|
|
|
NM_000466.3(PEX1):c.1437T>G (p.Pro479=)
|
|
|
NM_000466.3(PEX1):c.1455A>G (p.Glu485=)
|
|
|
NM_000466.3(PEX1):c.1473A>G (p.Glu491=)
|
|
|
NM_000466.3(PEX1):c.1476T>G (p.Thr492=)
|
rs1792468652
|
|
NM_000466.3(PEX1):c.1483+18T>A
|
|
|
NM_000466.3(PEX1):c.1483+18T>G
|
|
|
NM_000466.3(PEX1):c.1483+9A>C
|
rs2116209200
|
|
NM_000466.3(PEX1):c.1483+9del
|
|
|
NM_000466.3(PEX1):c.1484-10T>G
|
|
|
NM_000466.3(PEX1):c.1484-11C>A
|
|
|
NM_000466.3(PEX1):c.1484-4A>T
|
|
|
NM_000466.3(PEX1):c.1484-7T>G
|
|
|
NM_000466.3(PEX1):c.1501C>T (p.Leu501=)
|
|
|
NM_000466.3(PEX1):c.1503G>C (p.Leu501=)
|
|
|
NM_000466.3(PEX1):c.1518T>C (p.Ser506=)
|
rs756375656
|
|
NM_000466.3(PEX1):c.1524A>G (p.Glu508=)
|
rs2116205422
|
|
NM_000466.3(PEX1):c.1539A>G (p.Lys513=)
|
|
|
NM_000466.3(PEX1):c.1552T>C (p.Leu518=)
|
rs2116205269
|
|
NM_000466.3(PEX1):c.1554G>A (p.Leu518=)
|
|
|
NM_000466.3(PEX1):c.156T>C (p.Ser52=)
|
rs1793079717
|
|
NM_000466.3(PEX1):c.1581A>C (p.Thr527=)
|
rs2116205071
|
|
NM_000466.3(PEX1):c.1581A>G (p.Thr527=)
|
|
|
NM_000466.3(PEX1):c.1587+12T>C
|
|
|
NM_000466.3(PEX1):c.1587+15T>C
|
|
|
NM_000466.3(PEX1):c.1587+16T>C
|
|
|
NM_000466.3(PEX1):c.1587+8C>G
|
rs2116204929
|
|
NM_000466.3(PEX1):c.1588-14C>T
|
rs2116195353
|
|
NM_000466.3(PEX1):c.1588-16T>C
|
|
|
NM_000466.3(PEX1):c.1588-4G>A
|
|
|
NM_000466.3(PEX1):c.1590C>A (p.Val530=)
|
|
|
NM_000466.3(PEX1):c.1611A>G (p.Lys537=)
|
rs1209882593
|
|
NM_000466.3(PEX1):c.1670+10T>C
|
|
|
NM_000466.3(PEX1):c.1670+10T>G
|
|
|
NM_000466.3(PEX1):c.1670+12T>C
|
|
|
NM_000466.3(PEX1):c.1670+16C>T
|
|
|
NM_000466.3(PEX1):c.1670+20C>G
|
|
|
NM_000466.3(PEX1):c.1671-11A>G
|
|
|
NM_000466.3(PEX1):c.1671-12T>C
|
|
|
NM_000466.3(PEX1):c.1671-15_1671-12del
|
|
|
NM_000466.3(PEX1):c.1671-17A>G
|
|
|
NM_000466.3(PEX1):c.1686A>G (p.Leu562=)
|
rs2116181786
|
|
NM_000466.3(PEX1):c.168A>G (p.Ala56=)
|
|
|
NM_000466.3(PEX1):c.1698C>T (p.Ser566=)
|
rs2116181641
|
|
NM_000466.3(PEX1):c.1704G>A (p.Glu568=)
|
rs1792229068
|
|
NM_000466.3(PEX1):c.1707C>T (p.His569=)
|
|
|
NM_000466.3(PEX1):c.1713T>C (p.Thr571=)
|
|
|
NM_000466.3(PEX1):c.1716C>T (p.His572=)
|
rs1792228135
|
|
NM_000466.3(PEX1):c.1719C>T (p.Ser573=)
|
rs2116181405
|
|
NM_000466.3(PEX1):c.171C>T (p.Phe57=)
|
rs2116268508
|
|
NM_000466.3(PEX1):c.1731C>A (p.Arg577=)
|
|
|
NM_000466.3(PEX1):c.1731C>G (p.Arg577=)
|
rs2116181294
|
|
NM_000466.3(PEX1):c.1734T>A (p.Pro578=)
|
|
|
NM_000466.3(PEX1):c.1746G>A (p.Gln582=)
|
rs750015247
|
|
NM_000466.3(PEX1):c.174G>A (p.Leu58=)
|
|
|
NM_000466.3(PEX1):c.1773G>A (p.Arg591=)
|
rs2116180929
|
|
NM_000466.3(PEX1):c.1776T>C (p.Asn592=)
|
|
|
NM_000466.3(PEX1):c.177C>T (p.Ser59=)
|
|
|
NM_000466.3(PEX1):c.1791C>G (p.Leu597=)
|
|
|
NM_000466.3(PEX1):c.1800A>G (p.Gly600=)
|
|
|
NM_000466.3(PEX1):c.1803+14G>T
|
|
|
NM_000466.3(PEX1):c.1803+20T>G
|
|
|
NM_000466.3(PEX1):c.1804-12A>C
|
|
|
NM_000466.3(PEX1):c.1804-12A>G
|
rs143041528
|
|
NM_000466.3(PEX1):c.1804-13A>C
|
|
|
NM_000466.3(PEX1):c.1804-15G>C
|
|
|
NM_000466.3(PEX1):c.1804-16A>G
|
|
|
NM_000466.3(PEX1):c.1804-7T>G
|
rs1171558935
|
|
NM_000466.3(PEX1):c.1833A>C (p.Ala611=)
|
rs2116176396
|
|
NM_000466.3(PEX1):c.1833A>G (p.Ala611=)
|
rs2116176396
|
|
NM_000466.3(PEX1):c.1851T>C (p.Phe617=)
|
rs762766482
|
|
NM_000466.3(PEX1):c.1857A>G (p.Lys619=)
|
rs1393403749
|
|
NM_000466.3(PEX1):c.1869T>C (p.His623=)
|
|
|
NM_000466.3(PEX1):c.1878A>G (p.Arg626=)
|
rs1792182837
|
|
NM_000466.3(PEX1):c.1884C>T (p.Asp628=)
|
rs1345707685
|
|
NM_000466.3(PEX1):c.1900+10T>C
|
|
|
NM_000466.3(PEX1):c.1900+10T>G
|
rs2116175750
|
|
NM_000466.3(PEX1):c.1900+12G>A
|
|
|
NM_000466.3(PEX1):c.1900+13dup
|
|
|
NM_000466.3(PEX1):c.1900+17_1900+20del
|
|
|
NM_000466.3(PEX1):c.1900+18C>T
|
|
|
NM_000466.3(PEX1):c.1901-14T>C
|
rs1792111444
|
|
NM_000466.3(PEX1):c.1901-17A>G
|
|
|
NM_000466.3(PEX1):c.1901-4T>C
|
rs2116166425
|
|
NM_000466.3(PEX1):c.1901-7T>C
|
|
|
NM_000466.3(PEX1):c.1929C>A (p.Thr643=)
|
rs772780510
|
|
NM_000466.3(PEX1):c.1929C>T (p.Thr643=)
|
|
|
NM_000466.3(PEX1):c.1930C>T (p.Leu644=)
|
rs1168758164
|
|
NM_000466.3(PEX1):c.1935G>A (p.Glu645=)
|
|
|
NM_000466.3(PEX1):c.1947A>G (p.Ser649=)
|
|
|
NM_000466.3(PEX1):c.1956G>A (p.Val652=)
|
|
|
NM_000466.3(PEX1):c.1968A>C (p.Pro656=)
|
|
|
NM_000466.3(PEX1):c.1977C>T (p.Val659=)
|
rs2116165660
|
|
NM_000466.3(PEX1):c.1989C>T (p.Asp663=)
|
rs2116165541
|
|
NM_000466.3(PEX1):c.198T>C (p.Phe66=)
|
|
|
NM_000466.3(PEX1):c.1992T>C (p.Leu664=)
|
|
|
NM_000466.3(PEX1):c.2007A>T (p.Gly669=)
|
|
|
NM_000466.3(PEX1):c.2010G>A (p.Leu670=)
|
rs921615253
|
|
NM_000466.3(PEX1):c.2010G>C (p.Leu670=)
|
|
|
NM_000466.3(PEX1):c.2019C>A (p.Val673=)
|
rs368345209
|
|
NM_000466.3(PEX1):c.2019C>T (p.Val673=)
|
rs368345209
|
|
NM_000466.3(PEX1):c.2022G>A (p.Pro674=)
|
|
|
NM_000466.3(PEX1):c.2022G>C (p.Pro674=)
|
|
|
NM_000466.3(PEX1):c.2037T>C (p.Ser679=)
|
|
|
NM_000466.3(PEX1):c.2046G>C (p.Ala682=)
|
|
|
NM_000466.3(PEX1):c.2046G>T (p.Ala682=)
|
rs144845259
|
|
NM_000466.3(PEX1):c.2049G>A (p.Val683=)
|
rs769221282
|
|
NM_000466.3(PEX1):c.2059C>A (p.Arg687=)
|
rs138008298
|
|
NM_000466.3(PEX1):c.2067T>G (p.Ala689=)
|
rs2116164733
|
|
NM_000466.3(PEX1):c.2071+11C>T
|
|
|
NM_000466.3(PEX1):c.2071+12C>T
|
|
|
NM_000466.3(PEX1):c.2071+14C>A
|
|
|
NM_000466.3(PEX1):c.2071+14C>T
|
|
|
NM_000466.3(PEX1):c.2071+15C>T
|
|
|
NM_000466.3(PEX1):c.2071+17C>T
|
|
|
NM_000466.3(PEX1):c.2071+9A>G
|
rs2116164620
|
|
NM_000466.3(PEX1):c.2072-18T>C
|
|
|
NM_000466.3(PEX1):c.2072-4C>T
|
rs1792019918
|
|
NM_000466.3(PEX1):c.2072-8A>C
|
rs2116156411
|
|
NM_000466.3(PEX1):c.2072-8A>G
|
|
|
NM_000466.3(PEX1):c.2094G>A (p.Glu698=)
|
rs2116156123
|
|
NM_000466.3(PEX1):c.2115G>A (p.Leu705=)
|
|
|
NM_000466.3(PEX1):c.2122C>T (p.Leu708=)
|
|
|
NM_000466.3(PEX1):c.2148A>G (p.Gln716=)
|
rs753358124
|
|
NM_000466.3(PEX1):c.2154A>T (p.Leu718=)
|
|
|
NM_000466.3(PEX1):c.2187C>T (p.His729=)
|
rs915908576
|
|
NM_000466.3(PEX1):c.2199C>T (p.Cys733=)
|
|
|
NM_000466.3(PEX1):c.2202C>T (p.Val734=)
|
|
|
NM_000466.3(PEX1):c.2205A>G (p.Gln735=)
|
rs201308230
|
|
NM_000466.3(PEX1):c.2208C>T (p.His736=)
|
rs1411832129
|
|
NM_000466.3(PEX1):c.2220T>G (p.Pro740=)
|
rs2116155243
|
|
NM_000466.3(PEX1):c.2226+12C>T
|
|
|
NM_000466.3(PEX1):c.2226+7C>A
|
rs371347250
|
|
NM_000466.3(PEX1):c.2226+7C>T
|
|
|
NM_000466.3(PEX1):c.2226+8A>G
|
rs772716358
|
|
NM_000466.3(PEX1):c.2226+9C>G
|
rs2116155119
|
|
NM_000466.3(PEX1):c.2227-13T>G
|
rs2116149539
|
|
NM_000466.3(PEX1):c.2227-14G>T
|
rs1791958426
|
|
NM_000466.3(PEX1):c.2227-4T>C
|
rs2116149447
|
|
NM_000466.3(PEX1):c.2227-4T>G
|
|
|
NM_000466.3(PEX1):c.2229A>G (p.Glu743=)
|
rs2116149390
|
|
NM_000466.3(PEX1):c.2241A>G (p.Glu747=)
|
rs2116149299
|
|
NM_000466.3(PEX1):c.2253T>C (p.Asn751=)
|
rs769925670
|
|
NM_000466.3(PEX1):c.2256A>G (p.Val752=)
|
|
|
NM_000466.3(PEX1):c.2292C>T (p.Phe764=)
|
|
|
NM_000466.3(PEX1):c.2298T>C (p.Asp766=)
|
rs1585231825
|
|
NM_000466.3(PEX1):c.2310G>A (p.Gln770=)
|
|
|
NM_000466.3(PEX1):c.2313T>C (p.His771=)
|
rs763463570
|
|
NM_000466.3(PEX1):c.232A>C (p.Arg78=)
|
|
|
NM_000466.3(PEX1):c.2334G>A (p.Gly778=)
|
|
|
NM_000466.3(PEX1):c.2334G>T (p.Gly778=)
|
|
|
NM_000466.3(PEX1):c.2349T>C (p.Asp783=)
|
rs2116148406
|
|
NM_000466.3(PEX1):c.2364G>A (p.Val788=)
|
|
|
NM_000466.3(PEX1):c.2397G>A (p.Gln799=)
|
|
|
NM_000466.3(PEX1):c.2409C>T (p.Thr803=)
|
rs1585231525
|
|
NM_000466.3(PEX1):c.2412A>G (p.Arg804=)
|
rs1362565257
|
|
NM_000466.3(PEX1):c.2416+13A>G
|
|
|
NM_000466.3(PEX1):c.2416+20C>A
|
rs886038302
|
|
NM_000466.3(PEX1):c.2417-10T>A
|
|
|
NM_000466.3(PEX1):c.2417-16_2417-13del
|
rs1350018099
|
|
NM_000466.3(PEX1):c.2417-20T>G
|
|
|
NM_000466.3(PEX1):c.2418A>G (p.Lys806=)
|
|
|
NM_000466.3(PEX1):c.2425T>C (p.Leu809=)
|
|
|
NM_000466.3(PEX1):c.2433A>G (p.Thr811=)
|
|
|
NM_000466.3(PEX1):c.2434T>C (p.Leu812=)
|
|
|
NM_000466.3(PEX1):c.2469T>G (p.Pro823=)
|
rs1562853565
|
|
NM_000466.3(PEX1):c.2472G>A (p.Ala824=)
|
rs764437476
|
|
NM_000466.3(PEX1):c.2490C>T (p.Asn830=)
|
|
|
NM_000466.3(PEX1):c.2491C>T (p.Leu831=)
|
rs2116145518
|
|
NM_000466.3(PEX1):c.252T>C (p.Leu84=)
|
rs774698687
|
|
NM_000466.3(PEX1):c.252T>G (p.Leu84=)
|
rs774698687
|
|
NM_000466.3(PEX1):c.2532G>A (p.Gly844=)
|
|
|
NM_000466.3(PEX1):c.2533T>C (p.Leu845=)
|
rs1585230931
|
|
NM_000466.3(PEX1):c.2538T>C (p.His846=)
|
rs2116145185
|
|
NM_000466.3(PEX1):c.2541A>G (p.Glu847=)
|
rs1585230922
|
|
NM_000466.3(PEX1):c.2550G>A (p.Gln850=)
|
rs2116145108
|
|
NM_000466.3(PEX1):c.2553A>C (p.Ile851=)
|
rs2116145089
|
|
NM_000466.3(PEX1):c.2556C>T (p.Leu852=)
|
|
|
NM_000466.3(PEX1):c.2565T>G (p.Thr855=)
|
rs1472376635
|
|
NM_000466.3(PEX1):c.2583+12A>G
|
|
|
NM_000466.3(PEX1):c.2583+13A>T
|
|
|
NM_000466.3(PEX1):c.2583+14A>T
|
|
|
NM_000466.3(PEX1):c.2583+15A>C
|
|
|
NM_000466.3(PEX1):c.2583+20A>G
|
|
|
NM_000466.3(PEX1):c.2583+9A>T
|
rs1007607739
|
|
NM_000466.3(PEX1):c.2584-10T>C
|
rs375129444
|
|
NM_000466.3(PEX1):c.2584-11T>G
|
rs1443608242
|
|
NM_000466.3(PEX1):c.2584-22_2584-19del
|
rs2116133655
|
|
NM_000466.3(PEX1):c.2584-6del
|
rs745621383
|
|
NM_000466.3(PEX1):c.2586T>C (p.Tyr862=)
|
rs2116133214
|
|
NM_000466.3(PEX1):c.2589A>G (p.Pro863=)
|
rs2116133200
|
|
NM_000466.3(PEX1):c.258C>G (p.Leu86=)
|
|
|
NM_000466.3(PEX1):c.258C>T (p.Leu86=)
|
|
|
NM_000466.3(PEX1):c.2604C>T (p.Asn868=)
|
|
|
NM_000466.3(PEX1):c.2614C>A (p.Arg872=)
|
rs61750422
|
|
NM_000466.3(PEX1):c.2634G>A (p.Leu878=)
|
rs1193232549
|
|
NM_000466.3(PEX1):c.2646G>C (p.Pro882=)
|
rs775421085
|
|
NM_000466.3(PEX1):c.2646G>T (p.Pro882=)
|
rs775421085
|
|
NM_000466.3(PEX1):c.2676G>A (p.Gly892=)
|
|
|
NM_000466.3(PEX1):c.2676G>C (p.Gly892=)
|
|
|
NM_000466.3(PEX1):c.2679A>G (p.Val893=)
|
|
|
NM_000466.3(PEX1):c.2706T>C (p.Phe902=)
|
rs2116132336
|
|
NM_000466.3(PEX1):c.2712T>C (p.Ser904=)
|
|
|
NM_000466.3(PEX1):c.2718+10C>T
|
|
|
NM_000466.3(PEX1):c.2718+13_2718+16del
|
rs772364058
|
|
NM_000466.3(PEX1):c.2719-14dup
|
rs2116111355
|
|
NM_000466.3(PEX1):c.2719-15dup
|
|
|
NM_000466.3(PEX1):c.2719-17C>T
|
rs916738277
|
|
NM_000466.3(PEX1):c.2719-18T>A
|
|
|
NM_000466.3(PEX1):c.2719-5A>G
|
|
|
NM_000466.3(PEX1):c.2719-6C>T
|
rs2116111275
|
|
NM_000466.3(PEX1):c.2721G>A (p.Gly907=)
|
|
|
NM_000466.3(PEX1):c.2727G>A (p.Glu909=)
|
|
|
NM_000466.3(PEX1):c.273+10T>C
|
rs1793073947
|
|
NM_000466.3(PEX1):c.273+11G>C
|
|
|
NM_000466.3(PEX1):c.273+20A>G
|
|
|
NM_000466.3(PEX1):c.273+4_273+7dup
|
|
|
NM_000466.3(PEX1):c.273+8C>A
|
rs2116268020
|
|
NM_000466.3(PEX1):c.273+9A>G
|
rs1585260775
|
|
NM_000466.3(PEX1):c.274-11A>T
|
|
|
NM_000466.3(PEX1):c.274-13T>G
|
|
|
NM_000466.3(PEX1):c.2766T>C (p.Val922=)
|
|
|
NM_000466.3(PEX1):c.2766T>G (p.Val922=)
|
rs2116110796
|
|
NM_000466.3(PEX1):c.276A>T (p.Val92=)
|
|
|
NM_000466.3(PEX1):c.2772T>C (p.Asp924=)
|
|
|
NM_000466.3(PEX1):c.2783+10C>A
|
rs766160850
|
|
NM_000466.3(PEX1):c.2783+18G>A
|
|
|
NM_000466.3(PEX1):c.2783+20T>G
|
|
|
NM_000466.3(PEX1):c.2783+7A>T
|
rs1791669532
|
|
NM_000466.3(PEX1):c.2783+8G>A
|
rs2116110600
|
|
NM_000466.3(PEX1):c.2783+9C>T
|
|
|
NM_000466.3(PEX1):c.285G>A (p.Lys95=)
|
|
|
NM_000466.3(PEX1):c.288A>G (p.Pro96=)
|
|
|
NM_000466.3(PEX1):c.303A>G (p.Val101=)
|
|
|
NM_000466.3(PEX1):c.309T>C (p.Cys103=)
|
rs575737926
|
|
NM_000466.3(PEX1):c.333C>G (p.Leu111=)
|
rs2116253163
|
|
NM_000466.3(PEX1):c.336A>G (p.Ser112=)
|
rs1240957002
|
|
NM_000466.3(PEX1):c.345T>C (p.Asp115=)
|
|
|
NM_000466.3(PEX1):c.351G>A (p.Glu117=)
|
|
|
NM_000466.3(PEX1):c.355C>T (p.Leu119=)
|
rs2116253059
|
|
NM_000466.3(PEX1):c.358-10T>C
|
|
|
NM_000466.3(PEX1):c.358-13C>A
|
|
|
NM_000466.3(PEX1):c.358-17_358-14del
|
rs1174720123
|
|
NM_000466.3(PEX1):c.358-20_358-19inv
|
|
|
NM_000466.3(PEX1):c.358-8G>C
|
rs1585256094
|
|
NM_000466.3(PEX1):c.363G>A (p.Leu121=)
|
rs200866361
|
|
NM_000466.3(PEX1):c.366T>C (p.His122=)
|
|
|
NM_000466.3(PEX1):c.391C>T (p.Leu131=)
|
rs2116249061
|
|
NM_000466.3(PEX1):c.393A>C (p.Leu131=)
|
rs780791624
|
|
NM_000466.3(PEX1):c.396T>C (p.Asp132=)
|
rs1225400009
|
|
NM_000466.3(PEX1):c.403C>A (p.Arg135=)
|
rs201415996
|
|
NM_000466.3(PEX1):c.423C>A (p.Ala141=)
|
rs2116248825
|
|
NM_000466.3(PEX1):c.453G>A (p.Thr151=)
|
rs368714078
|
|
NM_000466.3(PEX1):c.453G>C (p.Thr151=)
|
rs368714078
|
|
NM_000466.3(PEX1):c.468A>G (p.Gln156=)
|
rs149729088
|
|
NM_000466.3(PEX1):c.472+10A>C
|
|
|
NM_000466.3(PEX1):c.472+10A>G
|
rs1792887415
|
|
NM_000466.3(PEX1):c.472+16A>G
|
|
|
NM_000466.3(PEX1):c.472+19T>C
|
rs1792886894
|
|
NM_000466.3(PEX1):c.472+20T>A
|
|
|
NM_000466.3(PEX1):c.472+7G>A
|
rs1017687646
|
|
NM_000466.3(PEX1):c.472+8C>T
|
rs2116248438
|
|
NM_000466.3(PEX1):c.473-13A>C
|
|
|
NM_000466.3(PEX1):c.473-13dup
|
|
|
NM_000466.3(PEX1):c.473-14del
|
rs1236657615
|
|
NM_000466.3(PEX1):c.473-16T>C
|
|
|
NM_000466.3(PEX1):c.473-7T>C
|
rs1792881897
|
|
NM_000466.3(PEX1):c.477A>G (p.Ala159=)
|
rs759628709
|
|
NM_000466.3(PEX1):c.478C>T (p.Leu160=)
|
|
|
NM_000466.3(PEX1):c.480A>G (p.Leu160=)
|
|
|
NM_000466.3(PEX1):c.489T>G (p.Ala163=)
|
rs1269219461
|
|
NM_000466.3(PEX1):c.522A>G (p.Lys174=)
|
rs2116247566
|
|
NM_000466.3(PEX1):c.540G>A (p.Lys180=)
|
rs1418653170
|
|
NM_000466.3(PEX1):c.564A>G (p.Thr188=)
|
|
|
NM_000466.3(PEX1):c.564A>T (p.Thr188=)
|
rs2116247151
|
|
NM_000466.3(PEX1):c.570A>G (p.Ser190=)
|
rs977095522
|
|
NM_000466.3(PEX1):c.570A>T (p.Ser190=)
|
rs977095522
|
|
NM_000466.3(PEX1):c.576T>G (p.Ala192=)
|
rs1585255480
|
|
NM_000466.3(PEX1):c.621A>G (p.Lys207=)
|
|
|
NM_000466.3(PEX1):c.642A>G (p.Gln214=)
|
|
|
NM_000466.3(PEX1):c.645C>A (p.Thr215=)
|
rs151041559
|
|
NM_000466.3(PEX1):c.648G>A (p.Lys216=)
|
rs1289765250
|
|
NM_000466.3(PEX1):c.654T>C (p.Leu218=)
|
rs2116246535
|
|
NM_000466.3(PEX1):c.660A>G (p.Ser220=)
|
rs2116246458
|
|
NM_000466.3(PEX1):c.699A>G (p.Ser233=)
|
rs2116246198
|
|
NM_000466.3(PEX1):c.705T>A (p.Ile235=)
|
|
|
NM_000466.3(PEX1):c.711T>A (p.Val237=)
|
rs758443247
|
|
NM_000466.3(PEX1):c.717A>G (p.Ser239=)
|
rs2116246138
|
|
NM_000466.3(PEX1):c.720A>G (p.Ser240=)
|
|
|
NM_000466.3(PEX1):c.723A>G (p.Ser241=)
|
rs2116246060
|
|
NM_000466.3(PEX1):c.726A>G (p.Val242=)
|
|
|
NM_000466.3(PEX1):c.768A>G (p.Gln256=)
|
|
|
NM_000466.3(PEX1):c.777G>A (p.Lys259=)
|
|
|
NM_000466.3(PEX1):c.789A>G (p.Thr263=)
|
rs564163221
|
|
NM_000466.3(PEX1):c.792T>C (p.Ser264=)
|
|
|
NM_000466.3(PEX1):c.810C>T (p.Ile270=)
|
rs2116245536
|
|
NM_000466.3(PEX1):c.813T>C (p.Asn271=)
|
rs1177803945
|
|
NM_000466.3(PEX1):c.816A>G (p.Ala272=)
|
rs2116245440
|
|
NM_000466.3(PEX1):c.840T>C (p.Val280=)
|
|
|
NM_000466.3(PEX1):c.849A>G (p.Leu283=)
|
|
|
NM_000466.3(PEX1):c.882T>A (p.Pro294=)
|
|
|
NM_000466.3(PEX1):c.885T>C (p.Pro295=)
|
|
|
NM_000466.3(PEX1):c.898G>T (p.Ala300Ser)
|
rs751506204
|
|
NM_000466.3(PEX1):c.903A>T (p.Ser301=)
|
rs2116244706
|
|
NM_000466.3(PEX1):c.906A>C (p.Ala302=)
|
rs2116244665
|
|
NM_000466.3(PEX1):c.90C>T (p.His30=)
|
|
|
NM_000466.3(PEX1):c.933C>T (p.Ala311=)
|
|
|
NM_000466.3(PEX1):c.942A>G (p.Val314=)
|
|
|
NM_000466.3(PEX1):c.948A>G (p.Pro316=)
|
rs780966702
|
|
NM_000466.3(PEX1):c.969T>C (p.Asp323=)
|
rs2116244121
|
|
NM_000466.3(PEX1):c.96G>A (p.Pro32=)
|
rs1445565547
|
|
NM_000466.3(PEX1):c.978C>T (p.Pro326=)
|
|
|
NM_000466.3(PEX1):c.984T>C (p.Phe328=)
|
|
|
NM_000466.3(PEX1):c.996T>C (p.Tyr332=)
|
|
|