NM_000287.4(PEX6):c.2667-48G>A
|
rs2274517
|
0.57547
|
NM_000287.4(PEX6):c.1961+20G>A
|
rs2274514
|
0.56870
|
NM_000287.4(PEX6):c.1885-24G>A
|
rs3818554
|
0.56866
|
NM_000287.4(PEX6):c.2814G>A (p.Glu938=)
|
rs1129186
|
0.56758
|
NM_000287.3(PEX6):c.-55C>T
|
rs9462859
|
0.40581
|
NM_000287.4(PEX6):c.399G>T (p.Val133=)
|
rs9462858
|
0.40569
|
NM_000287.4(PEX6):c.2816C>A (p.Pro939Gln)
|
rs1129187
|
0.40479
|
NM_000287.4(PEX6):c.883-3T>C
|
rs9986447
|
0.36088
|
NM_000287.4(PEX6):c.2426C>T (p.Ala809Val)
|
rs35830695
|
0.07353
|
NM_000287.4(PEX6):c.2364G>A (p.Val788=)
|
rs2274515
|
0.06152
|
NM_000287.4(PEX6):c.*319C>T
|
rs736158
|
0.06143
|
NM_000287.4(PEX6):c.*212C>T
|
rs1051218
|
0.02308
|
NM_000287.4(PEX6):c.207C>T (p.Pro69=)
|
rs11539736
|
0.02141
|
NM_000287.4(PEX6):c.2644G>A (p.Val882Ile)
|
rs2274516
|
0.02086
|
NM_000287.4(PEX6):c.1028G>A (p.Arg343Gln)
|
rs111282915
|
0.01262
|
NM_000287.4(PEX6):c.1646C>T (p.Ala549Val)
|
rs115960224
|
0.00687
|
NM_000287.4(PEX6):c.2936C>T (p.Ala979Val)
|
rs115180949
|
0.00686
|
NM_000287.4(PEX6):c.210G>A (p.Gly70=)
|
rs398123304
|
0.00678
|
NM_000287.4(PEX6):c.2770G>T (p.Ala924Ser)
|
rs34551839
|
0.00619
|
NM_000287.4(PEX6):c.813G>T (p.Ala271=)
|
rs35503676
|
0.00583
|
NM_000287.4(PEX6):c.330C>G (p.Thr110=)
|
rs140486558
|
0.00486
|
NM_000287.4(PEX6):c.1479+11C>T
|
rs114137311
|
0.00471
|
NM_000287.4(PEX6):c.1071A>G (p.Leu357=)
|
rs116318004
|
0.00363
|
NM_000287.4(PEX6):c.1802G>A (p.Arg601Gln)
|
rs34324426
|
0.00294
|
NM_000287.4(PEX6):c.882+15_882+16del
|
rs555409430
|
0.00189
|
NM_000287.4(PEX6):c.2436G>A (p.Arg812=)
|
rs61732156
|
0.00178
|
NM_000287.4(PEX6):c.685A>G (p.Arg229Gly)
|
rs146571927
|
0.00176
|
NM_000287.4(PEX6):c.1171G>A (p.Glu391Lys)
|
rs150046979
|
0.00175
|
NM_000287.4(PEX6):c.1480-5C>T
|
rs376473597
|
0.00126
|
NM_000287.4(PEX6):c.1718C>T (p.Thr573Ile)
|
rs140769712
|
0.00122
|
NM_000287.4(PEX6):c.1677C>A (p.Asp559Glu)
|
rs61732159
|
0.00093
|
NM_000287.4(PEX6):c.1491C>T (p.Ser497=)
|
rs79238506
|
0.00079
|
NM_000287.4(PEX6):c.853C>G (p.Pro285Ala)
|
rs61753220
|
0.00067
|
NM_000287.4(PEX6):c.1234-11A>G
|
rs201879957
|
0.00041
|
NM_000287.4(PEX6):c.1014C>T (p.Asp338=)
|
rs140806942
|
0.00039
|
NM_000287.4(PEX6):c.1335C>G (p.Leu445=)
|
rs142958800
|
0.00039
|
NM_000287.4(PEX6):c.1757C>T (p.Ala586Val)
|
rs146416679
|
0.00039
|
NM_000287.4(PEX6):c.*343G>C
|
rs117055658
|
0.00037
|
NM_000287.4(PEX6):c.503C>T (p.Pro168Leu)
|
rs200026148
|
0.00037
|
NM_000287.4(PEX6):c.1670A>G (p.Asn557Ser)
|
rs138621982
|
0.00030
|
NM_000287.4(PEX6):c.25C>T (p.Leu9=)
|
rs183449855
|
0.00029
|
NM_000287.4(PEX6):c.2700C>T (p.Asn900=)
|
rs533766104
|
0.00029
|
NM_000287.4(PEX6):c.1884+3G>A
|
rs377041406
|
0.00026
|
NM_000287.4(PEX6):c.306G>T (p.Ala102=)
|
rs727504083
|
0.00026
|
NM_000287.4(PEX6):c.-79C>T
|
rs186587060
|
0.00024
|
NM_000287.4(PEX6):c.488G>C (p.Arg163Pro)
|
rs778791031
|
0.00024
|
NM_000287.4(PEX6):c.372G>C (p.Leu124=)
|
rs752732049
|
0.00021
|
NM_000287.4(PEX6):c.1303C>A (p.Pro435Thr)
|
rs115186444
|
0.00020
|
NM_000287.4(PEX6):c.2531T>C (p.Val844Ala)
|
rs187435179
|
0.00019
|
NM_000287.4(PEX6):c.617G>A (p.Gly206Glu)
|
rs139093654
|
0.00018
|
NM_000287.4(PEX6):c.1961+19C>T
|
rs527464912
|
0.00017
|
NM_000287.4(PEX6):c.1081A>G (p.Thr361Ala)
|
rs146025917
|
0.00016
|
NM_000287.4(PEX6):c.2183C>T (p.Pro728Leu)
|
rs142899308
|
0.00016
|
NM_000287.4(PEX6):c.2806+15G>A
|
rs370445298
|
0.00016
|
NM_000287.4(PEX6):c.543G>A (p.Val181=)
|
rs368560418
|
0.00015
|
NM_000287.4(PEX6):c.1131-18T>C
|
rs537952041
|
0.00014
|
NM_000287.4(PEX6):c.2867C>T (p.Ala956Val)
|
rs200115671
|
0.00014
|
NM_000287.4(PEX6):c.2534T>C (p.Ile845Thr)
|
rs61753226
|
0.00013
|
NM_000287.4(PEX6):c.1606C>T (p.Arg536Trp)
|
rs368752843
|
0.00012
|
NM_000287.4(PEX6):c.2225T>C (p.Leu742Pro)
|
rs267608235
|
0.00012
|
NM_000287.4(PEX6):c.740C>G (p.Pro247Arg)
|
rs199697021
|
0.00011
|
NM_000287.4(PEX6):c.1082C>T (p.Thr361Ile)
|
rs145335409
|
0.00010
|
NM_000287.4(PEX6):c.2783G>A (p.Arg928His)
|
rs201265954
|
0.00010
|
NM_000287.4(PEX6):c.643C>A (p.Leu215Ile)
|
rs865933425
|
0.00010
|
NM_000287.4(PEX6):c.843T>C (p.Leu281=)
|
rs758552465
|
0.00010
|
NM_000287.4(PEX6):c.970G>A (p.Glu324Lys)
|
rs201678533
|
0.00010
|
NM_000287.4(PEX6):c.1607G>A (p.Arg536Gln)
|
rs138431842
|
0.00009
|
NM_000287.4(PEX6):c.1637G>A (p.Arg546His)
|
rs201061728
|
0.00009
|
NM_000287.4(PEX6):c.1773C>T (p.Leu591=)
|
rs56328719
|
0.00009
|
NM_000287.4(PEX6):c.1480-4C>G
|
rs767652461
|
0.00008
|
NM_000287.4(PEX6):c.1821C>T (p.Ala607=)
|
rs201730259
|
0.00008
|
NM_000287.4(PEX6):c.390C>T (p.Thr130=)
|
rs753963225
|
0.00008
|
NM_000287.4(PEX6):c.1680C>T (p.Pro560=)
|
rs372998833
|
0.00007
|
NM_000287.4(PEX6):c.2104G>A (p.Val702Met)
|
rs377421228
|
0.00007
|
NM_000287.4(PEX6):c.219G>A (p.Gln73=)
|
rs191944205
|
0.00007
|
NM_000287.4(PEX6):c.1550G>A (p.Arg517Gln)
|
rs371782808
|
0.00006
|
NM_000287.4(PEX6):c.1636C>T (p.Arg546Cys)
|
rs750452619
|
0.00006
|
NM_000287.4(PEX6):c.1962-15T>C
|
rs756925757
|
0.00006
|
NM_000287.4(PEX6):c.2244C>T (p.Thr748=)
|
rs372593973
|
0.00006
|
NM_000287.4(PEX6):c.1387A>G (p.Thr463Ala)
|
rs182308788
|
0.00005
|
NM_000287.4(PEX6):c.1613G>A (p.Arg538His)
|
rs559048081
|
0.00005
|
NM_000287.4(PEX6):c.1877G>A (p.Arg626Gln)
|
rs79351868
|
0.00005
|
NM_000287.4(PEX6):c.2229T>C (p.His743=)
|
rs145849057
|
0.00005
|
NM_000287.4(PEX6):c.2459G>A (p.Gly820Glu)
|
rs558030547
|
0.00005
|
NM_000287.4(PEX6):c.2662C>T (p.Arg888Cys)
|
rs148251960
|
0.00005
|
NM_000287.4(PEX6):c.2730G>A (p.Thr910=)
|
rs774721609
|
0.00005
|
NM_000287.4(PEX6):c.2869C>T (p.Arg957Trp)
|
rs762858933
|
0.00005
|
NM_000287.4(PEX6):c.2891dup (p.Gln965fs)
|
rs753862792
|
0.00005
|
NM_000287.4(PEX6):c.295C>T (p.Arg99Trp)
|
rs772383329
|
0.00005
|
NM_000287.3(PEX6):c.-39G>A
|
rs76974379
|
0.00004
|
NM_000287.4(PEX6):c.1150A>C (p.Lys384Gln)
|
rs769388552
|
0.00004
|
NM_000287.4(PEX6):c.1206C>T (p.Ala402=)
|
rs756358409
|
0.00004
|
NM_000287.4(PEX6):c.1354C>T (p.Arg452Cys)
|
rs762734034
|
0.00004
|
NM_000287.4(PEX6):c.187G>A (p.Gly63Ser)
|
rs958375823
|
0.00004
|
NM_000287.4(PEX6):c.2095-12T>G
|
rs760820489
|
0.00004
|
NM_000287.4(PEX6):c.2095-19C>T
|
rs201875496
|
0.00004
|
NM_000287.4(PEX6):c.2124T>C (p.Gly708=)
|
rs199661664
|
0.00004
|
NM_000287.4(PEX6):c.2357G>A (p.Arg786Gln)
|
rs758572546
|
0.00004
|
NM_000287.4(PEX6):c.2604G>A (p.Val868=)
|
rs761123181
|
0.00004
|
NM_000287.4(PEX6):c.2642G>A (p.Arg881His)
|
rs751377690
|
0.00004
|
NM_000287.4(PEX6):c.2663G>A (p.Arg888His)
|
rs267608247
|
0.00004
|
NM_000287.4(PEX6):c.2666+16G>C
|
rs753900168
|
0.00004
|
NM_000287.4(PEX6):c.2736G>A (p.Ala912=)
|
rs202049230
|
0.00004
|
NM_000287.4(PEX6):c.2906G>A (p.Arg969Gln)
|
rs374426032
|
0.00004
|
NM_000287.4(PEX6):c.2924G>T (p.Arg975Leu)
|
rs757254854
|
0.00004
|
NM_000287.4(PEX6):c.411G>A (p.Arg137=)
|
rs769196737
|
0.00004
|
NM_000287.4(PEX6):c.657G>A (p.Gln219=)
|
rs375588028
|
0.00004
|
NM_000287.4(PEX6):c.680A>G (p.Gln227Arg)
|
rs757479364
|
0.00004
|
NM_000287.4(PEX6):c.690G>A (p.Glu230=)
|
rs368341252
|
0.00004
|
NM_000287.4(PEX6):c.807A>G (p.Gly269=)
|
rs774117516
|
0.00004
|
NM_000287.4(PEX6):c.870G>C (p.Glu290Asp)
|
rs150358700
|
0.00004
|
NM_000287.4(PEX6):c.903C>T (p.Ile301=)
|
rs772083436
|
0.00004
|
NM_000287.4(PEX6):c.939T>C (p.Pro313=)
|
rs151234121
|
0.00004
|
NM_000287.3(PEX6):c.-62C>A
|
rs886061413
|
0.00003
|
NM_000287.4(PEX6):c.*168C>T
|
rs886061410
|
0.00003
|
NM_000287.4(PEX6):c.1145T>G (p.Phe382Cys)
|
rs762401493
|
0.00003
|
NM_000287.4(PEX6):c.1159A>G (p.Lys387Glu)
|
rs1286993221
|
0.00003
|
NM_000287.4(PEX6):c.1195G>A (p.Ala399Thr)
|
rs564483086
|
0.00003
|
NM_000287.4(PEX6):c.1207G>A (p.Asp403Asn)
|
rs535326039
|
0.00003
|
NM_000287.4(PEX6):c.1234-10C>T
|
rs370661410
|
0.00003
|
NM_000287.4(PEX6):c.1405C>T (p.Arg469Trp)
|
rs757334412
|
0.00003
|
NM_000287.4(PEX6):c.1455T>C (p.Ser485=)
|
rs749798782
|
0.00003
|
NM_000287.4(PEX6):c.1480-14G>A
|
rs558979502
|
0.00003
|
NM_000287.4(PEX6):c.1495C>T (p.Leu499Phe)
|
rs769207892
|
0.00003
|
NM_000287.4(PEX6):c.152C>A (p.Ala51Glu)
|
rs931068715
|
0.00003
|
NM_000287.4(PEX6):c.1549C>T (p.Arg517Trp)
|
rs754790139
|
0.00003
|
NM_000287.4(PEX6):c.1857C>T (p.Asn619=)
|
rs140285166
|
0.00003
|
NM_000287.4(PEX6):c.185C>T (p.Ala62Val)
|
rs991131935
|
0.00003
|
NM_000287.4(PEX6):c.1876C>T (p.Arg626Trp)
|
rs374278186
|
0.00003
|
NM_000287.4(PEX6):c.1941C>A (p.Cys647Ter)
|
rs781475201
|
0.00003
|
NM_000287.4(PEX6):c.21G>T (p.Arg7=)
|
rs908910430
|
0.00003
|
NM_000287.4(PEX6):c.2493C>T (p.Ala831=)
|
rs775778545
|
0.00003
|
NM_000287.4(PEX6):c.2735C>T (p.Ala912Val)
|
rs62641232
|
0.00003
|
NM_000287.4(PEX6):c.2788G>T (p.Val930Phe)
|
rs756296074
|
0.00003
|
NM_000287.4(PEX6):c.2806+14C>T
|
rs544074442
|
0.00003
|
NM_000287.4(PEX6):c.2866G>A (p.Ala956Thr)
|
rs774145857
|
0.00003
|
NM_000287.4(PEX6):c.412G>A (p.Val138Met)
|
rs763313055
|
0.00003
|
NM_000287.4(PEX6):c.465G>C (p.Leu155=)
|
rs1187015124
|
0.00003
|
NM_000287.4(PEX6):c.483C>T (p.Arg161=)
|
rs772034979
|
0.00003
|
NM_000287.4(PEX6):c.781C>T (p.Pro261Ser)
|
rs758866060
|
0.00003
|
NM_000287.4(PEX6):c.782C>T (p.Pro261Leu)
|
rs753014991
|
0.00003
|
NM_000287.4(PEX6):c.821C>T (p.Pro274Leu)
|
rs61753219
|
0.00003
|
NM_000287.4(PEX6):c.904G>A (p.Ala302Thr)
|
rs368503571
|
0.00003
|
NM_000287.4(PEX6):c.1047-4G>T
|
rs748779475
|
0.00002
|
NM_000287.4(PEX6):c.106C>T (p.Leu36=)
|
rs758416830
|
0.00002
|
NM_000287.4(PEX6):c.1104G>A (p.Leu368=)
|
rs551645410
|
0.00002
|
NM_000287.4(PEX6):c.1130+18G>C
|
rs201799034
|
0.00002
|
NM_000287.4(PEX6):c.1137G>T (p.Arg379=)
|
rs766574538
|
0.00002
|
NM_000287.4(PEX6):c.122G>A (p.Arg41Lys)
|
rs372033738
|
0.00002
|
NM_000287.4(PEX6):c.1361A>G (p.Gln454Arg)
|
rs779171611
|
0.00002
|
NM_000287.4(PEX6):c.1370G>T (p.Gly457Val)
|
rs752494573
|
0.00002
|
NM_000287.4(PEX6):c.1406G>A (p.Arg469Gln)
|
rs773105735
|
0.00002
|
NM_000287.4(PEX6):c.1437A>G (p.Val479=)
|
rs769120023
|
0.00002
|
NM_000287.4(PEX6):c.1555C>T (p.Arg519Cys)
|
rs924649541
|
0.00002
|
NM_000287.4(PEX6):c.1556G>A (p.Arg519His)
|
rs368356719
|
0.00002
|
NM_000287.4(PEX6):c.1587A>C (p.Thr529=)
|
rs372775539
|
0.00002
|
NM_000287.4(PEX6):c.1612C>T (p.Arg538Cys)
|
rs374253469
|
0.00002
|
NM_000287.4(PEX6):c.1689-19C>T
|
rs369595295
|
0.00002
|
NM_000287.4(PEX6):c.1746T>C (p.Asp582=)
|
rs756462650
|
0.00002
|
NM_000287.4(PEX6):c.1810A>G (p.Ile604Val)
|
rs370855809
|
0.00002
|
NM_000287.4(PEX6):c.192C>G (p.Thr64=)
|
rs1310661091
|
0.00002
|
NM_000287.4(PEX6):c.1961+11G>A
|
rs778693003
|
0.00002
|
NM_000287.4(PEX6):c.1962-1G>A
|
rs267608229
|
0.00002
|
NM_000287.4(PEX6):c.1963T>C (p.Leu655=)
|
rs751189574
|
0.00002
|
NM_000287.4(PEX6):c.1992G>C (p.Glu664Asp)
|
rs267608230
|
0.00002
|
NM_000287.4(PEX6):c.2079C>T (p.Ala693=)
|
rs774509670
|
0.00002
|
NM_000287.4(PEX6):c.2080G>A (p.Val694Ile)
|
rs562698757
|
0.00002
|
NM_000287.4(PEX6):c.2089C>T (p.Pro697Ser)
|
rs543110086
|
0.00002
|
NM_000287.4(PEX6):c.2139G>A (p.Val713=)
|
rs1355851692
|
0.00002
|
NM_000287.4(PEX6):c.2210G>A (p.Arg737His)
|
rs767654358
|
0.00002
|
NM_000287.4(PEX6):c.2254C>G (p.Leu752Val)
|
rs374975985
|
0.00002
|
NM_000287.4(PEX6):c.2257C>T (p.Leu753=)
|
rs771551469
|
0.00002
|
NM_000287.4(PEX6):c.2280G>A (p.Glu760=)
|
rs538125198
|
0.00002
|
NM_000287.4(PEX6):c.2310G>A (p.Gly770=)
|
rs775473162
|
0.00002
|
NM_000287.4(PEX6):c.2362+13G>A
|
rs754139118
|
0.00002
|
NM_000287.4(PEX6):c.2362+18G>A
|
rs926733722
|
0.00002
|
NM_000287.4(PEX6):c.2363-12C>G
|
rs762548205
|
0.00002
|
NM_000287.4(PEX6):c.2397T>C (p.Ile799=)
|
rs773184108
|
0.00002
|
NM_000287.4(PEX6):c.2440C>T (p.Arg814Ter)
|
rs267608241
|
0.00002
|
NM_000287.4(PEX6):c.2579G>A (p.Arg860Gln)
|
rs61753231
|
0.00002
|
NM_000287.4(PEX6):c.2612G>A (p.Gly871Glu)
|
rs1460417469
|
0.00002
|
NM_000287.4(PEX6):c.2643C>T (p.Arg881=)
|
rs150853105
|
0.00002
|
NM_000287.4(PEX6):c.2666+9T>C
|
rs759681405
|
0.00002
|
NM_000287.4(PEX6):c.2672A>G (p.Lys891Arg)
|
rs886044685
|
0.00002
|
NM_000287.4(PEX6):c.2701G>A (p.Val901Met)
|
rs766523042
|
0.00002
|
NM_000287.4(PEX6):c.2734G>A (p.Ala912Thr)
|
rs374549180
|
0.00002
|
NM_000287.4(PEX6):c.2884G>A (p.Val962Ile)
|
rs771029096
|
0.00002
|
NM_000287.4(PEX6):c.2914C>T (p.Arg972Cys)
|
rs761395988
|
0.00002
|
NM_000287.4(PEX6):c.367C>T (p.Leu123=)
|
rs758218388
|
0.00002
|
NM_000287.4(PEX6):c.558G>A (p.Ala186=)
|
rs1443640798
|
0.00002
|
NM_000287.4(PEX6):c.621G>A (p.Val207=)
|
rs778798903
|
0.00002
|
NM_000287.4(PEX6):c.635T>A (p.Leu212His)
|
rs779822002
|
0.00002
|
NM_000287.4(PEX6):c.724G>A (p.Val242Met)
|
rs368915893
|
0.00002
|
NM_000287.4(PEX6):c.732C>T (p.Val244=)
|
rs768532180
|
0.00002
|
NM_000287.4(PEX6):c.743G>T (p.Arg248Leu)
|
rs368481812
|
0.00002
|
NM_000287.4(PEX6):c.832G>A (p.Ala278Thr)
|
rs370456987
|
0.00002
|
NM_000287.4(PEX6):c.882+8A>G
|
rs368663953
|
0.00002
|
NM_000287.3(PEX6):c.-71C>G
|
rs886061414
|
0.00001
|
NM_000287.4(PEX6):c.1027C>T (p.Arg343Trp)
|
rs977542433
|
0.00001
|
NM_000287.4(PEX6):c.1032C>T (p.His344=)
|
rs1770222575
|
0.00001
|
NM_000287.4(PEX6):c.1033T>A (p.Phe345Ile)
|
rs1770222482
|
0.00001
|
NM_000287.4(PEX6):c.1084_1085del (p.Ile362fs)
|
rs1408438094
|
0.00001
|
NM_000287.4(PEX6):c.1085T>C (p.Ile362Thr)
|
rs571650965
|
0.00001
|
NM_000287.4(PEX6):c.1116A>G (p.Pro372=)
|
rs532009370
|
0.00001
|
NM_000287.4(PEX6):c.1125G>T (p.Leu375=)
|
rs1315935379
|
0.00001
|
NM_000287.4(PEX6):c.112C>T (p.Leu38=)
|
rs1295374375
|
0.00001
|
NM_000287.4(PEX6):c.1130+2T>C
|
rs1416001981
|
0.00001
|
NM_000287.4(PEX6):c.1131-7C>T
|
rs752538584
|
0.00001
|
NM_000287.4(PEX6):c.1145T>C (p.Phe382Ser)
|
rs762401493
|
0.00001
|
NM_000287.4(PEX6):c.117C>T (p.Ala39=)
|
rs1425435587
|
0.00001
|
NM_000287.4(PEX6):c.1225T>C (p.Leu409=)
|
rs1243719850
|
0.00001
|
NM_000287.4(PEX6):c.1231A>G (p.Met411Val)
|
rs752177240
|
0.00001
|
NM_000287.4(PEX6):c.1233+1G>A
|
rs763459576
|
0.00001
|
NM_000287.4(PEX6):c.1233+3G>A
|
rs955591362
|
0.00001
|
NM_000287.4(PEX6):c.1234-1G>T
|
rs1554127533
|
0.00001
|
NM_000287.4(PEX6):c.1234-20C>T
|
rs751884285
|
0.00001
|
NM_000287.4(PEX6):c.1236G>A (p.Val412=)
|
rs1196012985
|
0.00001
|
NM_000287.4(PEX6):c.1251C>T (p.Ser417=)
|
rs995542635
|
0.00001
|
NM_000287.4(PEX6):c.1254T>C (p.Pro418=)
|
rs760255973
|
0.00001
|
NM_000287.4(PEX6):c.1260A>G (p.Pro420=)
|
rs139409107
|
0.00001
|
NM_000287.4(PEX6):c.1267C>G (p.Pro423Ala)
|
rs774044599
|
0.00001
|
NM_000287.4(PEX6):c.1281C>T (p.Ser427=)
|
rs1318560741
|
0.00001
|
NM_000287.4(PEX6):c.1287del (p.Trp430fs)
|
rs1258472160
|
0.00001
|
NM_000287.4(PEX6):c.1290G>T (p.Trp430Cys)
|
rs1457151665
|
0.00001
|
NM_000287.4(PEX6):c.1294A>C (p.Ser432Arg)
|
rs775373588
|
0.00001
|
NM_000287.4(PEX6):c.1313T>C (p.Leu438Pro)
|
rs778025463
|
0.00001
|
NM_000287.4(PEX6):c.1313dup (p.Glu439fs)
|
rs770055192
|
0.00001
|
NM_000287.4(PEX6):c.1326G>A (p.Val442=)
|
rs753300241
|
0.00001
|
NM_000287.4(PEX6):c.1359C>T (p.Leu453=)
|
rs1769988633
|
0.00001
|
NM_000287.4(PEX6):c.1362G>A (p.Gln454=)
|
rs1360001006
|
0.00001
|
NM_000287.4(PEX6):c.1365A>G (p.Pro455=)
|
rs759402659
|
0.00001
|
NM_000287.4(PEX6):c.1367+10G>A
|
rs776610051
|
0.00001
|
NM_000287.4(PEX6):c.1368-19G>A
|
rs1184313908
|
0.00001
|
NM_000287.4(PEX6):c.1374C>T (p.Ala458=)
|
rs1485254916
|
0.00001
|
NM_000287.4(PEX6):c.1380G>A (p.Leu460=)
|
rs764976498
|
0.00001
|
NM_000287.4(PEX6):c.1392C>T (p.Ser464=)
|
rs1345870957
|
0.00001
|
NM_000287.4(PEX6):c.140C>T (p.Pro47Leu)
|
rs1299683224
|
0.00001
|
NM_000287.4(PEX6):c.1410C>T (p.Gly470=)
|
rs1206140976
|
0.00001
|
NM_000287.4(PEX6):c.1417G>A (p.Gly473Ser)
|
rs774874010
|
0.00001
|
NM_000287.4(PEX6):c.141G>C (p.Pro47=)
|
rs1464923917
|
0.00001
|
NM_000287.4(PEX6):c.1453A>G (p.Ser485Gly)
|
rs1211744219
|
0.00001
|
NM_000287.4(PEX6):c.1480-18T>C
|
rs1175044137
|
0.00001
|
NM_000287.4(PEX6):c.1480-9C>G
|
rs1421047167
|
0.00001
|
NM_000287.4(PEX6):c.1484C>G (p.Pro495Arg)
|
rs762174122
|
0.00001
|
NM_000287.4(PEX6):c.1485C>T (p.Pro495=)
|
rs1202034566
|
0.00001
|
NM_000287.4(PEX6):c.150G>C (p.Pro50=)
|
rs1475357223
|
0.00001
|
NM_000287.4(PEX6):c.1511G>A (p.Ser504Asn)
|
rs770340288
|
0.00001
|
NM_000287.4(PEX6):c.1512T>C (p.Ser504=)
|
rs1013102900
|
0.00001
|
NM_000287.4(PEX6):c.1531C>T (p.Leu511=)
|
rs147567606
|
0.00001
|
NM_000287.4(PEX6):c.153G>C (p.Ala51=)
|
rs1179672531
|
0.00001
|
NM_000287.4(PEX6):c.1542C>T (p.Ile514=)
|
rs757884797
|
0.00001
|
NM_000287.4(PEX6):c.1545C>T (p.Phe515=)
|
rs1385021965
|
0.00001
|
NM_000287.4(PEX6):c.1558C>T (p.Arg520Cys)
|
rs530370123
|
0.00001
|
NM_000287.4(PEX6):c.1566G>A (p.Arg522=)
|
rs950336722
|
0.00001
|
NM_000287.4(PEX6):c.157C>G (p.Leu53Val)
|
rs1254816567
|
0.00001
|
NM_000287.4(PEX6):c.1591G>A (p.Val531Met)
|
rs1769924968
|
0.00001
|
NM_000287.4(PEX6):c.1605C>T (p.Gly535=)
|
rs1384204316
|
0.00001
|
NM_000287.4(PEX6):c.1639G>T (p.Val547Leu)
|
rs757202336
|
0.00001
|
NM_000287.4(PEX6):c.1654C>T (p.Arg552Cys)
|
rs765678624
|
0.00001
|
NM_000287.4(PEX6):c.1688+3A>G
|
rs111397663
|
0.00001
|
NM_000287.4(PEX6):c.1688G>A (p.Ser563Asn)
|
rs768025730
|
0.00001
|
NM_000287.4(PEX6):c.1689-12C>G
|
rs901956712
|
0.00001
|
NM_000287.4(PEX6):c.169C>T (p.Leu57=)
|
rs1481867777
|
0.00001
|
NM_000287.4(PEX6):c.1737G>A (p.Leu579=)
|
rs766766609
|
0.00001
|
NM_000287.4(PEX6):c.1747G>A (p.Val583Met)
|
rs750996699
|
0.00001
|
NM_000287.4(PEX6):c.1797G>A (p.Gly599=)
|
rs746770634
|
0.00001
|
NM_000287.4(PEX6):c.1798C>T (p.Gln600Ter)
|
rs1769875600
|
0.00001
|
NM_000287.4(PEX6):c.1801C>T (p.Arg601Trp)
|
rs61753225
|
0.00001
|
NM_000287.4(PEX6):c.1815G>A (p.Leu605=)
|
rs746010714
|
0.00001
|
NM_000287.4(PEX6):c.1817G>A (p.Arg606Gln)
|
rs780239941
|
0.00001
|
NM_000287.4(PEX6):c.1834C>T (p.Leu612Phe)
|
rs750758458
|
0.00001
|
NM_000287.4(PEX6):c.1841del (p.Leu614fs)
|
rs863225083
|
0.00001
|
NM_000287.4(PEX6):c.1858T>C (p.Leu620=)
|
rs1365537744
|
0.00001
|
NM_000287.4(PEX6):c.1884A>G (p.Ala628=)
|
rs779124738
|
0.00001
|
NM_000287.4(PEX6):c.1885-17T>C
|
rs1205830934
|
0.00001
|
NM_000287.4(PEX6):c.1885-8T>G
|
rs757612297
|
0.00001
|
NM_000287.4(PEX6):c.1885G>C (p.Gly629Arg)
|
rs753408034
|
0.00001
|
NM_000287.4(PEX6):c.188G>A (p.Gly63Asp)
|
rs1770439751
|
0.00001
|
NM_000287.4(PEX6):c.1902T>C (p.Asp634=)
|
rs761653474
|
0.00001
|
NM_000287.4(PEX6):c.1931G>A (p.Arg644Gln)
|
rs746117128
|
0.00001
|
NM_000287.4(PEX6):c.1943C>T (p.Thr648Ile)
|
rs1439667922
|
0.00001
|
NM_000287.4(PEX6):c.1950C>T (p.Ile650=)
|
rs747394761
|
0.00001
|
NM_000287.4(PEX6):c.1958C>T (p.Ser653Leu)
|
rs267608228
|
0.00001
|
NM_000287.4(PEX6):c.1961+10C>T
|
rs779467530
|
0.00001
|
NM_000287.4(PEX6):c.1961+4A>C
|
rs748621080
|
0.00001
|
NM_000287.4(PEX6):c.1962-16G>A
|
rs200119040
|
0.00001
|
NM_000287.4(PEX6):c.1962-8C>T
|
rs959360213
|
0.00001
|
NM_000287.4(PEX6):c.2010C>T (p.Ala670=)
|
rs759328524
|
0.00001
|
NM_000287.4(PEX6):c.2011G>A (p.Gly671Ser)
|
rs776805570
|
0.00001
|
NM_000287.4(PEX6):c.202G>A (p.Gly68Ser)
|
rs752644254
|
0.00001
|
NM_000287.4(PEX6):c.2061G>A (p.Gln687=)
|
rs1769816755
|
0.00001
|
NM_000287.4(PEX6):c.2078C>A (p.Ala693Asp)
|
rs748535121
|
0.00001
|
NM_000287.4(PEX6):c.2094+6G>A
|
rs1009420665
|
0.00001
|
NM_000287.4(PEX6):c.2095-18G>A
|
rs370867292
|
0.00001
|
NM_000287.4(PEX6):c.2108C>T (p.Ser703Phe)
|
rs1390565278
|
0.00001
|
NM_000287.4(PEX6):c.2109C>G (p.Ser703=)
|
rs1769810523
|
0.00001
|
NM_000287.4(PEX6):c.2142G>T (p.Lys714Asn)
|
rs371619603
|
0.00001
|
NM_000287.4(PEX6):c.2148G>A (p.Glu716=)
|
rs766104579
|
0.00001
|
NM_000287.4(PEX6):c.2157G>C (p.Glu719Asp)
|
rs1385321266
|
0.00001
|
NM_000287.4(PEX6):c.2172C>T (p.Pro724=)
|
rs1463523319
|
0.00001
|
NM_000287.4(PEX6):c.2177A>C (p.Glu726Ala)
|
rs1250862310
|
0.00001
|
NM_000287.4(PEX6):c.2182C>T (p.Pro728Ser)
|
rs577794661
|
0.00001
|
NM_000287.4(PEX6):c.2204T>C (p.Leu735Pro)
|
rs920798728
|
0.00001
|
NM_000287.4(PEX6):c.2205G>C (p.Leu735=)
|
rs1472222445
|
0.00001
|
NM_000287.4(PEX6):c.2205del (p.Arg736fs)
|
rs1197432552
|
0.00001
|
NM_000287.4(PEX6):c.2209C>T (p.Arg737Cys)
|
rs148562506
|
0.00001
|
NM_000287.4(PEX6):c.2221C>T (p.Leu741=)
|
rs558449356
|
0.00001
|
NM_000287.4(PEX6):c.2228A>G (p.His743Arg)
|
rs1313804105
|
0.00001
|
NM_000287.4(PEX6):c.2243C>T (p.Thr748Ile)
|
rs1769802405
|
0.00001
|
NM_000287.4(PEX6):c.2245G>A (p.Gly749Ser)
|
rs1244339215
|
0.00001
|
NM_000287.4(PEX6):c.2247C>A (p.Gly749=)
|
rs770291974
|
0.00001
|
NM_000287.4(PEX6):c.2300+15T>C
|
rs1262534519
|
0.00001
|
NM_000287.4(PEX6):c.2300+16G>A
|
rs1371507879
|
0.00001
|
NM_000287.4(PEX6):c.2331T>C (p.Tyr777=)
|
rs745866848
|
0.00001
|
NM_000287.4(PEX6):c.2347G>A (p.Glu783Lys)
|
rs757161798
|
0.00001
|
NM_000287.4(PEX6):c.2353G>A (p.Val785Met)
|
rs747065131
|
0.00001
|
NM_000287.4(PEX6):c.2356C>T (p.Arg786Trp)
|
rs267608239
|
0.00001
|
NM_000287.4(PEX6):c.2359G>A (p.Glu787Lys)
|
rs202019439
|
0.00001
|
NM_000287.4(PEX6):c.2362+15A>G
|
rs761201792
|
0.00001
|
NM_000287.4(PEX6):c.2362+1G>A
|
rs1443107232
|
0.00001
|
NM_000287.4(PEX6):c.2362G>A (p.Val788Met)
|
rs267608240
|
0.00001
|
NM_000287.4(PEX6):c.2382T>C (p.Ala794=)
|
rs776319615
|
0.00001
|
NM_000287.4(PEX6):c.2435G>A (p.Arg812Gln)
|
rs61753229
|
0.00001
|
NM_000287.4(PEX6):c.2439G>A (p.Gly813=)
|
rs139281058
|
0.00001
|
NM_000287.4(PEX6):c.2441G>A (p.Arg814Gln)
|
rs757780839
|
0.00001
|
NM_000287.4(PEX6):c.249C>T (p.Leu83=)
|
rs1438441659
|
0.00001
|
NM_000287.4(PEX6):c.2512A>G (p.Ser838Gly)
|
rs759682469
|
0.00001
|
NM_000287.4(PEX6):c.2547C>T (p.Asn849=)
|
rs1171568759
|
0.00001
|
NM_000287.4(PEX6):c.2585G>T (p.Gly862Val)
|
rs764227040
|
0.00001
|
NM_000287.4(PEX6):c.2586C>A (p.Gly862=)
|
rs763098526
|
0.00001
|
NM_000287.4(PEX6):c.2615C>T (p.Ala872Val)
|
rs183208634
|
0.00001
|
NM_000287.4(PEX6):c.2626C>T (p.Arg876Trp)
|
rs267608246
|
0.00001
|
NM_000287.4(PEX6):c.2641C>T (p.Arg881Cys)
|
rs756846188
|
0.00001
|
NM_000287.4(PEX6):c.2666+10G>T
|
rs1391636338
|
0.00001
|
NM_000287.4(PEX6):c.2667-4A>G
|
rs1561819184
|
0.00001
|
NM_000287.4(PEX6):c.2681C>T (p.Pro894Leu)
|
rs1040199114
|
0.00001
|
NM_000287.4(PEX6):c.2693T>C (p.Leu898Pro)
|
rs1769689393
|
0.00001
|
NM_000287.4(PEX6):c.2704C>T (p.Leu902=)
|
rs368544721
|
0.00001
|
NM_000287.4(PEX6):c.2729C>T (p.Thr910Met)
|
rs762089817
|
0.00001
|
NM_000287.4(PEX6):c.273G>A (p.Trp91Ter)
|
rs1010184002
|
0.00001
|
NM_000287.4(PEX6):c.2769A>G (p.Thr923=)
|
rs1436900309
|
0.00001
|
NM_000287.4(PEX6):c.2802G>A (p.Glu934=)
|
rs747654294
|
0.00001
|
NM_000287.4(PEX6):c.2805A>G (p.Glu935=)
|
rs918460295
|
0.00001
|
NM_000287.4(PEX6):c.2806+1G>A
|
rs751900826
|
0.00001
|
NM_000287.4(PEX6):c.2807-20C>T
|
rs781291676
|
0.00001
|
NM_000287.4(PEX6):c.2830C>T (p.Leu944=)
|
rs2063704023
|
0.00001
|
NM_000287.4(PEX6):c.2854C>T (p.Leu952=)
|
rs767430981
|
0.00001
|
NM_000287.4(PEX6):c.2870G>A (p.Arg957Gln)
|
rs370201505
|
0.00001
|
NM_000287.4(PEX6):c.2877A>G (p.Gln959=)
|
rs562040179
|
0.00001
|
NM_000287.4(PEX6):c.2878C>T (p.Pro960Ser)
|
rs1769644652
|
0.00001
|
NM_000287.4(PEX6):c.2883A>T (p.Ser961=)
|
rs369656844
|
0.00001
|
NM_000287.4(PEX6):c.2885T>C (p.Val962Ala)
|
rs1361796630
|
0.00001
|
NM_000287.4(PEX6):c.2889T>C (p.Ser963=)
|
rs958283171
|
0.00001
|
NM_000287.4(PEX6):c.2915G>A (p.Arg972His)
|
rs751058292
|
0.00001
|
NM_000287.4(PEX6):c.2923C>T (p.Arg975Cys)
|
rs575358435
|
0.00001
|
NM_000287.4(PEX6):c.2928G>A (p.Lys976=)
|
rs1230978438
|
0.00001
|
NM_000287.4(PEX6):c.340C>T (p.Pro114Ser)
|
rs1561831093
|
0.00001
|
NM_000287.4(PEX6):c.348C>T (p.Leu116=)
|
rs746578841
|
0.00001
|
NM_000287.4(PEX6):c.358G>A (p.Val120Ile)
|
rs918929371
|
0.00001
|
NM_000287.4(PEX6):c.360C>T (p.Val120=)
|
rs777743656
|
0.00001
|
NM_000287.4(PEX6):c.39G>A (p.Pro13=)
|
rs908372737
|
0.00001
|
NM_000287.4(PEX6):c.400C>G (p.Pro134Ala)
|
rs760985292
|
0.00001
|
NM_000287.4(PEX6):c.402C>T (p.Pro134=)
|
rs773371109
|
0.00001
|
NM_000287.4(PEX6):c.406_407insT (p.Pro136fs)
|
rs1561830903
|
0.00001
|
NM_000287.4(PEX6):c.407C>A (p.Pro136Gln)
|
rs376824422
|
0.00001
|
NM_000287.4(PEX6):c.410G>A (p.Arg137Gln)
|
rs1254025750
|
0.00001
|
NM_000287.4(PEX6):c.432G>T (p.Ala144=)
|
rs1400693848
|
0.00001
|
NM_000287.4(PEX6):c.444G>A (p.Leu148=)
|
rs1022934488
|
0.00001
|
NM_000287.4(PEX6):c.460C>G (p.Arg154Gly)
|
rs746681634
|
0.00001
|
NM_000287.4(PEX6):c.468T>C (p.Ala156=)
|
rs1254015920
|
0.00001
|
NM_000287.4(PEX6):c.478C>T (p.Leu160Phe)
|
rs1336576924
|
0.00001
|
NM_000287.4(PEX6):c.484G>T (p.Gly162Trp)
|
rs1359274674
|
0.00001
|
NM_000287.4(PEX6):c.496C>G (p.Leu166Val)
|
rs1770417803
|
0.00001
|
NM_000287.4(PEX6):c.510_511del (p.Asp172fs)
|
rs61753211
|
0.00001
|
NM_000287.4(PEX6):c.517del (p.Ser173fs)
|
rs61753212
|
0.00001
|
NM_000287.4(PEX6):c.533C>G (p.Pro178Arg)
|
rs1303061971
|
0.00001
|
NM_000287.4(PEX6):c.611C>G (p.Ser204Ter)
|
rs773056086
|
0.00001
|
NM_000287.4(PEX6):c.615A>G (p.Leu205=)
|
rs1417378536
|
0.00001
|
NM_000287.4(PEX6):c.618G>A (p.Gly206=)
|
rs200477648
|
0.00001
|
NM_000287.4(PEX6):c.625C>T (p.Arg209Trp)
|
rs749292690
|
0.00001
|
NM_000287.4(PEX6):c.686G>A (p.Arg229Lys)
|
rs1260446318
|
0.00001
|
NM_000287.4(PEX6):c.693A>G (p.Ser231=)
|
rs1379751437
|
0.00001
|
NM_000287.4(PEX6):c.719C>G (p.Ala240Gly)
|
rs372269200
|
0.00001
|
NM_000287.4(PEX6):c.735A>G (p.Leu245=)
|
rs749029501
|
0.00001
|
NM_000287.4(PEX6):c.757G>A (p.Asp253Asn)
|
rs1259137255
|
0.00001
|
NM_000287.4(PEX6):c.759T>C (p.Asp253=)
|
rs374342179
|
0.00001
|
NM_000287.4(PEX6):c.75C>T (p.Pro25=)
|
rs1189384100
|
0.00001
|
NM_000287.4(PEX6):c.762A>G (p.Arg254=)
|
rs777826616
|
0.00001
|
NM_000287.4(PEX6):c.773G>C (p.Gly258Ala)
|
rs1030087734
|
0.00001
|
NM_000287.4(PEX6):c.777T>C (p.Ser259=)
|
rs1229021041
|
0.00001
|
NM_000287.4(PEX6):c.783G>T (p.Pro261=)
|
rs765629238
|
0.00001
|
NM_000287.4(PEX6):c.795C>G (p.Pro265=)
|
rs545106357
|
0.00001
|
NM_000287.4(PEX6):c.804C>T (p.Asp268=)
|
rs761372470
|
0.00001
|
NM_000287.4(PEX6):c.834T>A (p.Ala278=)
|
rs75600837
|
0.00001
|
NM_000287.4(PEX6):c.84G>A (p.Pro28=)
|
rs1236425028
|
0.00001
|
NM_000287.4(PEX6):c.883-8T>C
|
rs777174653
|
0.00001
|
NM_000287.4(PEX6):c.901A>G (p.Ile301Val)
|
rs578234477
|
0.00001
|
NM_000287.4(PEX6):c.928T>G (p.Ser310Ala)
|
rs1770228334
|
0.00001
|
NM_000287.4(PEX6):c.946C>G (p.Pro316Ala)
|
rs1200072500
|
0.00001
|
NM_000287.4(PEX6):c.960G>A (p.Glu320=)
|
rs936251509
|
0.00001
|
NM_000287.4(PEX6):c.987C>G (p.Pro329=)
|
rs775893741
|
0.00001
|
NM_000287.4(PEX6):c.990C>T (p.His330=)
|
rs947712788
|
0.00001
|
NC_000006.11:g.(?_42932073)_(42941844_?)del
|
|
|
NC_000006.11:g.(?_42935086)_(42935321_?)del
|
|
|
NC_000006.11:g.(?_42941721)_(42942796_?)del
|
|
|
NC_000006.11:g.(?_42941721)_(42942796_?)dup
|
|
|
NC_000006.11:g.(?_42942593)_(42946888_?)del
|
|
|
NC_000006.11:g.(?_42945987)_(42946888_?)del
|
|
|
NC_000006.12:g.(?_42968280)_(42979253_?)del
|
|
|
NC_000006.12:g.(?_42974865)_(42975048_?)del
|
|
|
NC_000006.12:g.42965156_42965157insTTTTTTTTTTTTTTTTTNNNNNNNNNNAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCACAGCTTGTCAAATCTTT
|
|
|
NM_000287.4(PEX6):c.*368G>A
|
rs866465109
|
|
NM_000287.4(PEX6):c.*407T>G
|
rs886061409
|
|
NM_000287.4(PEX6):c.100C>T (p.Leu34=)
|
rs2150240766
|
|
NM_000287.4(PEX6):c.1010A>T (p.Tyr337Phe)
|
|
|
NM_000287.4(PEX6):c.1011T>C (p.Tyr337=)
|
|
|
NM_000287.4(PEX6):c.1012G>A (p.Asp338Asn)
|
rs2150236006
|
|
NM_000287.4(PEX6):c.1013A>G (p.Asp338Gly)
|
|
|
NM_000287.4(PEX6):c.1015G>A (p.Gly339Ser)
|
|
|
NM_000287.4(PEX6):c.1017T>C (p.Gly339=)
|
rs2150235982
|
|
NM_000287.4(PEX6):c.1018G>A (p.Val340Ile)
|
|
|
NM_000287.4(PEX6):c.1027del (p.Arg343fs)
|
rs1388178333
|
|
NM_000287.4(PEX6):c.1029G>A (p.Arg343=)
|
|
|
NM_000287.4(PEX6):c.1036C>A (p.Gln346Lys)
|
|
|
NM_000287.4(PEX6):c.1036C>T (p.Gln346Ter)
|
|
|
NM_000287.4(PEX6):c.1044C>G (p.Pro348=)
|
|
|
NM_000287.4(PEX6):c.1046+14C>T
|
|
|
NM_000287.4(PEX6):c.1046+15C>A
|
|
|
NM_000287.4(PEX6):c.1046+15C>T
|
rs778415507
|
|
NM_000287.4(PEX6):c.1046+16T>A
|
|
|
NM_000287.4(PEX6):c.1046+19T>C
|
|
|
NM_000287.4(PEX6):c.1046+1G>A
|
rs1554127968
|
|
NM_000287.4(PEX6):c.1046+1G>T
|
|
|
NM_000287.4(PEX6):c.1046+20A>T
|
|
|
NM_000287.4(PEX6):c.1046+3_1046+5dup
|
|
|
NM_000287.4(PEX6):c.1046+3_1046+7dup
|
|
|
NM_000287.4(PEX6):c.1047-17C>T
|
|
|
NM_000287.4(PEX6):c.1047-3C>T
|
rs2150235001
|
|
NM_000287.4(PEX6):c.1047-4G>A
|
|
|
NM_000287.4(PEX6):c.1047-7G>A
|
rs768222448
|
|
NM_000287.4(PEX6):c.104_109dup (p.Leu36_Val37insGlyLeu)
|
|
|
NM_000287.4(PEX6):c.1050A>C (p.Val350=)
|
rs2150234993
|
|
NM_000287.4(PEX6):c.1053C>G (p.Val351=)
|
rs2150234991
|
|
NM_000287.4(PEX6):c.1054C>T (p.Gln352Ter)
|
rs267608212
|
|
NM_000287.4(PEX6):c.105C>T (p.Gly35=)
|
|
|
NM_000287.4(PEX6):c.1062G>A (p.Gly354=)
|
rs2150234981
|
|
NM_000287.4(PEX6):c.106C>A (p.Leu36Met)
|
rs758416830
|
|
NM_000287.4(PEX6):c.1072del (p.Cys358fs)
|
|
|
NM_000287.4(PEX6):c.1074T>A (p.Cys358Ter)
|
rs1478799269
|
|
NM_000287.4(PEX6):c.1074T>C (p.Cys358=)
|
|
|
NM_000287.4(PEX6):c.1075G>C (p.Val359Leu)
|
rs2150234968
|
|
NM_000287.4(PEX6):c.1080A>T (p.Pro360=)
|
rs2150234963
|
|
NM_000287.4(PEX6):c.1091A>G (p.Gln364Arg)
|
rs1282588166
|
|
NM_000287.4(PEX6):c.1092A>G (p.Gln364=)
|
rs1241222298
|
|
NM_000287.4(PEX6):c.1094del (p.Val365fs)
|
|
|
NM_000287.4(PEX6):c.1098_1099del (p.Glu366fs)
|
rs1189098622
|
|
NM_000287.4(PEX6):c.10_216delinsCCACCCGGGGGCCCGTGGCCGGCGGCGGAGCTGGGCCTGGTGCTGGCCCTGAGGC (p.Ala4fs)
|
rs2150240574
|
|
NM_000287.4(PEX6):c.1109_1112del (p.Gly370fs)
|
rs2150234919
|
|
NM_000287.4(PEX6):c.1110A>G (p.Gly370=)
|
rs886061411
|
|
NM_000287.4(PEX6):c.1119del (p.Lys374fs)
|
|
|
NM_000287.4(PEX6):c.1123C>T (p.Leu375=)
|
|
|
NM_000287.4(PEX6):c.1127_1128del (p.Pro376fs)
|
|
|
NM_000287.4(PEX6):c.1130+10T>C
|
rs2150234874
|
|
NM_000287.4(PEX6):c.1130+13C>T
|
|
|
NM_000287.4(PEX6):c.1130+18G>A
|
rs201799034
|
|
NM_000287.4(PEX6):c.1130+1G>A
|
rs267608213
|
|
NM_000287.4(PEX6):c.1130+1G>T
|
rs267608213
|
|
NM_000287.4(PEX6):c.1130+6C>T
|
rs2150234879
|
|
NM_000287.4(PEX6):c.1130+7A>G
|
|
|
NM_000287.4(PEX6):c.1131-10T>C
|
|
|
NM_000287.4(PEX6):c.1131-13del
|
rs2114248435
|
|
NM_000287.4(PEX6):c.1131-19T>A
|
rs761325258
|
|
NM_000287.4(PEX6):c.1131-19T>C
|
|
|
NM_000287.4(PEX6):c.1131-20A>C
|
|
|
NM_000287.4(PEX6):c.1131-20A>T
|
rs1052860167
|
|
NM_000287.4(PEX6):c.1131-3C>A
|
|
|
NM_000287.4(PEX6):c.1131-8T>C
|
|
|
NM_000287.4(PEX6):c.1131-9T>C
|
rs1770006982
|
|
NM_000287.4(PEX6):c.1131G>A (p.Arg377=)
|
|
|
NM_000287.4(PEX6):c.1133G>A (p.Trp378Ter)
|
|
|
NM_000287.4(PEX6):c.1135C>T (p.Arg379Trp)
|
|
|
NM_000287.4(PEX6):c.1136G>A (p.Arg379Gln)
|
|
|
NM_000287.4(PEX6):c.1137G>A (p.Arg379=)
|
rs766574538
|
|
NM_000287.4(PEX6):c.1138G>A (p.Glu380Lys)
|
|
|
NM_000287.4(PEX6):c.1138dup (p.Glu380fs)
|
rs2114248372
|
|
NM_000287.4(PEX6):c.1149_1150insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNCCACCTCCCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGGGGGCTGACCCCCCCATCTCCCTCCCGGACGGGGTGGGAAATGTTTTTT (p.Lys384delinsPhePhePhePhePhePheXaaXaaXaaXaaProProProSerArgThrGlyArgLeuAlaArgArgGlyGlyGlyTer)
|
|
|
NM_000287.4(PEX6):c.1152_1154del (p.Val385del)
|
rs1770004572
|
|
NM_000287.4(PEX6):c.1155G>A (p.Val385=)
|
|
|
NM_000287.4(PEX6):c.1155G>T (p.Val385=)
|
|
|
NM_000287.4(PEX6):c.1156A>T (p.Lys386Ter)
|
rs2114248288
|
|
NM_000287.4(PEX6):c.1158G>A (p.Lys386=)
|
|
|
NM_000287.4(PEX6):c.115G>A (p.Ala39Thr)
|
|
|
NM_000287.4(PEX6):c.1166T>C (p.Val389Ala)
|
rs1043201555
|
|
NM_000287.4(PEX6):c.1167T>C (p.Val389=)
|
|
|
NM_000287.4(PEX6):c.1173A>G (p.Glu391=)
|
|
|
NM_000287.4(PEX6):c.1178C>T (p.Pro393Leu)
|
|
|
NM_000287.4(PEX6):c.1179A>G (p.Pro393=)
|
rs2114248207
|
|
NM_000287.4(PEX6):c.1181A>G (p.Asp394Gly)
|
|
|
NM_000287.4(PEX6):c.1183G>A (p.Gly395Arg)
|
|
|
NM_000287.4(PEX6):c.1183G>C (p.Gly395Arg)
|
|
|
NM_000287.4(PEX6):c.1186C>T (p.Pro396Ser)
|
rs1239197537
|
|
NM_000287.4(PEX6):c.1187C>T (p.Pro396Leu)
|
|
|
NM_000287.4(PEX6):c.1194T>C (p.Ser398=)
|
rs762820334
|
|
NM_000287.4(PEX6):c.1202T>A (p.Leu401Ter)
|
rs886044436
|
|
NM_000287.4(PEX6):c.1203G>A (p.Leu401=)
|
|
|
NM_000287.4(PEX6):c.1209C>T (p.Asp403=)
|
|
|
NM_000287.4(PEX6):c.120G>A (p.Leu40=)
|
|
|
NM_000287.4(PEX6):c.1212C>A (p.Thr404=)
|
|
|
NM_000287.4(PEX6):c.1212C>G (p.Thr404=)
|
|
|
NM_000287.4(PEX6):c.1212C>T (p.Thr404=)
|
|
|
NM_000287.4(PEX6):c.1215C>A (p.Thr405=)
|
|
|
NM_000287.4(PEX6):c.1216dup (p.His406fs)
|
rs2114248084
|
|
NM_000287.4(PEX6):c.1220C>A (p.Thr407Asn)
|
rs886043987
|
|
NM_000287.4(PEX6):c.1220CCT[1] (p.Ser408del)
|
|
|
NM_000287.4(PEX6):c.1221C>G (p.Thr407=)
|
rs1437814393
|
|
NM_000287.4(PEX6):c.1221C>T (p.Thr407=)
|
|
|
NM_000287.4(PEX6):c.1224C>T (p.Ser408=)
|
rs2114248061
|
|
NM_000287.4(PEX6):c.1226T>C (p.Leu409Ser)
|
rs1355523119
|
|
NM_000287.4(PEX6):c.1230C>T (p.Tyr410=)
|
rs1390461246
|
|
NM_000287.4(PEX6):c.1232T>C (p.Met411Thr)
|
rs566310924
|
|
NM_000287.4(PEX6):c.1233+10C>T
|
rs2114247999
|
|
NM_000287.4(PEX6):c.1233+11A>T
|
|
|
NM_000287.4(PEX6):c.1233+12A>T
|
rs2114247994
|
|
NM_000287.4(PEX6):c.1233+14G>A
|
|
|
NM_000287.4(PEX6):c.1233+15A>G
|
|
|
NM_000287.4(PEX6):c.1233+16T>C
|
rs2114247984
|
|
NM_000287.4(PEX6):c.1233+19G>C
|
rs989072078
|
|
NM_000287.4(PEX6):c.1233+20T>A
|
|
|
NM_000287.4(PEX6):c.1233+9C>T
|
|
|
NM_000287.4(PEX6):c.1234-11A>T
|
rs201879957
|
|
NM_000287.4(PEX6):c.1234-11del
|
|
|
NM_000287.4(PEX6):c.1234-14A>G
|
|
|
NM_000287.4(PEX6):c.1234-15T>C
|
|
|
NM_000287.4(PEX6):c.1234-2A>G
|
rs2114247797
|
|
NM_000287.4(PEX6):c.1234-4A>G
|
rs2114247807
|
|
NM_000287.4(PEX6):c.1234-8T>C
|
|
|
NM_000287.4(PEX6):c.1234-8_1234-7dup
|
rs200121485
|
|
NM_000287.4(PEX6):c.1234-9C>G
|
|
|
NM_000287.4(PEX6):c.1234G>A (p.Val412Met)
|
|
|
NM_000287.4(PEX6):c.1236G>T (p.Val412=)
|
|
|
NM_000287.4(PEX6):c.1238G>T (p.Gly413Val)
|
rs1554127531
|
|
NM_000287.4(PEX6):c.1239T>G (p.Gly413=)
|
|
|
NM_000287.4(PEX6):c.123G>A (p.Arg41=)
|
rs1561831496
|
|
NM_000287.4(PEX6):c.1246C>T (p.Leu416=)
|
rs766038568
|
|
NM_000287.4(PEX6):c.1255G>C (p.Val419Leu)
|
rs773054165
|
|
NM_000287.4(PEX6):c.125C>T (p.Pro42Leu)
|
rs960906617
|
|
NM_000287.4(PEX6):c.1262G>A (p.Trp421Ter)
|
|
|
NM_000287.4(PEX6):c.1263G>A (p.Trp421Ter)
|
|
|
NM_000287.4(PEX6):c.1264C>T (p.Leu422Phe)
|
|
|
NM_000287.4(PEX6):c.1266C>T (p.Leu422=)
|
rs1260688458
|
|
NM_000287.4(PEX6):c.1276G>T (p.Glu426Ter)
|
|
|
NM_000287.4(PEX6):c.127G>T (p.Ala43Ser)
|
rs1770442809
|
|
NM_000287.4(PEX6):c.1287C>G (p.Leu429=)
|
rs2114247608
|
|
NM_000287.4(PEX6):c.1297T>C (p.Leu433=)
|
|
|
NM_000287.4(PEX6):c.1299G>T (p.Leu433Phe)
|
|
|
NM_000287.4(PEX6):c.129A>G (p.Ala43=)
|
|
|
NM_000287.4(PEX6):c.129A>T (p.Ala43=)
|
rs1445718475
|
|
NM_000287.4(PEX6):c.1301C>T (p.Ser434Phe)
|
|
|
NM_000287.4(PEX6):c.1301del (p.Ser434fs)
|
rs62641231
|
|
NM_000287.4(PEX6):c.1302T>C (p.Ser434=)
|
|
|
NM_000287.4(PEX6):c.1305T>C (p.Pro435=)
|
rs2114247560
|
|
NM_000287.4(PEX6):c.1310G>A (p.Gly437Asp)
|
rs771063294
|
|
NM_000287.4(PEX6):c.1311C>T (p.Gly437=)
|
rs748214049
|
|
NM_000287.4(PEX6):c.1314_1321del (p.Glu439fs)
|
rs267608216
|
|
NM_000287.4(PEX6):c.1315del (p.Glu439fs)
|
|
|
NM_000287.4(PEX6):c.1320C>T (p.Ala440=)
|
rs2114247492
|
|
NM_000287.4(PEX6):c.1326dup (p.Ser443fs)
|
rs2114247458
|
|
NM_000287.4(PEX6):c.1329T>G (p.Ser443=)
|
|
|
NM_000287.4(PEX6):c.132G>A (p.Gly44=)
|
rs1166800127
|
|
NM_000287.4(PEX6):c.1335C>A (p.Leu445=)
|
|
|
NM_000287.4(PEX6):c.1338_1339del (p.Ala447fs)
|
rs398123303
|
|
NM_000287.4(PEX6):c.133G>T (p.Glu45Ter)
|
rs1356280167
|
|
NM_000287.4(PEX6):c.133_147dup (p.Glu45_Gly49dup)
|
rs1421584986
|
|
NM_000287.4(PEX6):c.1341T>C (p.Ala447=)
|
|
|
NM_000287.4(PEX6):c.1347G>A (p.Leu449=)
|
|
|
NM_000287.4(PEX6):c.1347G>T (p.Leu449=)
|
|
|
NM_000287.4(PEX6):c.1350_1351delinsAA (p.Pro451Thr)
|
|
|
NM_000287.4(PEX6):c.1352del (p.Pro451fs)
|
|
|
NM_000287.4(PEX6):c.1354C>G (p.Arg452Gly)
|
|
|
NM_000287.4(PEX6):c.1357C>T (p.Leu453Phe)
|
rs1769988827
|
|
NM_000287.4(PEX6):c.1357del (p.Leu453fs)
|
rs2114247385
|
|
NM_000287.4(PEX6):c.135G>A (p.Glu45=)
|
rs2150240712
|
|
NM_000287.4(PEX6):c.1360C>T (p.Gln454Ter)
|
rs1554127491
|
|
NM_000287.4(PEX6):c.1367+10del
|
rs2114247320
|
|
NM_000287.4(PEX6):c.1367+12C>T
|
|
|
NM_000287.4(PEX6):c.1367+12_1367+25del
|
|
|
NM_000287.4(PEX6):c.1367+13A>C
|
|
|
NM_000287.4(PEX6):c.1367+17C>G
|
|
|
NM_000287.4(PEX6):c.1367+17C>T
|
|
|
NM_000287.4(PEX6):c.1367+18C>A
|
|
|
NM_000287.4(PEX6):c.1367+1G>A
|
rs1769988075
|
|
NM_000287.4(PEX6):c.1367+2T>C
|
|
|
NM_000287.4(PEX6):c.1367+6T>C
|
rs2114247326
|
|
NM_000287.4(PEX6):c.1367+9G>T
|
|
|
NM_000287.4(PEX6):c.1368-10C>A
|
|
|
NM_000287.4(PEX6):c.1368-12C>G
|
rs1335461045
|
|
NM_000287.4(PEX6):c.1368-15G>A
|
|
|
NM_000287.4(PEX6):c.1368-20T>C
|
|
|
NM_000287.4(PEX6):c.1368-2del
|
rs1554127415
|
|
NM_000287.4(PEX6):c.1368G>A (p.Gly456=)
|
rs763725671
|
|
NM_000287.4(PEX6):c.1370G>A (p.Gly457Asp)
|
|
|
NM_000287.4(PEX6):c.1373C>A (p.Ala458Asp)
|
|
|
NM_000287.4(PEX6):c.1375C>T (p.Leu459=)
|
|
|
NM_000287.4(PEX6):c.1377G>C (p.Leu459=)
|
|
|
NM_000287.4(PEX6):c.1377G>T (p.Leu459=)
|
|
|
NM_000287.4(PEX6):c.1378C>T (p.Leu460=)
|
|
|
NM_000287.4(PEX6):c.137G>C (p.Ser46Thr)
|
|
|
NM_000287.4(PEX6):c.1382C>G (p.Thr461Arg)
|
rs2114246115
|
|
NM_000287.4(PEX6):c.1383A>G (p.Thr461=)
|
|
|
NM_000287.4(PEX6):c.1386A>G (p.Gly462=)
|
rs2114246091
|
|
NM_000287.4(PEX6):c.1388C>T (p.Thr463Ile)
|
|
|
NM_000287.4(PEX6):c.1389T>A (p.Thr463=)
|
rs2114246068
|
|
NM_000287.4(PEX6):c.1394G>C (p.Ser465Thr)
|
rs2114246040
|
|
NM_000287.4(PEX6):c.1396G>A (p.Val466Ile)
|
|
|
NM_000287.4(PEX6):c.1399C>T (p.Leu467Phe)
|
rs2114246028
|
|
NM_000287.4(PEX6):c.1401T>A (p.Leu467=)
|
|
|
NM_000287.4(PEX6):c.1401_1403del (p.Leu468del)
|
rs1222318292
|
|
NM_000287.4(PEX6):c.1402_1403del (p.Leu468fs)
|
|
|
NM_000287.4(PEX6):c.1404A>G (p.Leu468=)
|
|
|
NM_000287.4(PEX6):c.1404del (p.Arg469fs)
|
rs267608218
|
|
NM_000287.4(PEX6):c.1406_1474del (p.Arg469_Leu491del)
|
|
|
NM_000287.4(PEX6):c.1407G>A (p.Arg469=)
|
|
|
NM_000287.4(PEX6):c.1409G>C (p.Gly470Ala)
|
rs1561823098
|
|
NM_000287.4(PEX6):c.140C>A (p.Pro47Gln)
|
rs1299683224
|
|
NM_000287.4(PEX6):c.1410C>A (p.Gly470=)
|
|
|
NM_000287.4(PEX6):c.1413C>T (p.Pro471=)
|
|
|
NM_000287.4(PEX6):c.1415C>T (p.Pro472Leu)
|
rs1769951744
|
|
NM_000287.4(PEX6):c.1415del (p.Pro472fs)
|
rs267608219
|
|
NM_000287.4(PEX6):c.1415dup (p.Gly473fs)
|
|
|
NM_000287.4(PEX6):c.141G>A (p.Pro47=)
|
rs1464923917
|
|
NM_000287.4(PEX6):c.1428G>A (p.Lys476=)
|
|
|
NM_000287.4(PEX6):c.1429A>G (p.Thr477Ala)
|
rs2114245927
|
|
NM_000287.4(PEX6):c.1438G>A (p.Val480Ile)
|
rs2114245909
|
|
NM_000287.4(PEX6):c.1440T>C (p.Val480=)
|
|
|
NM_000287.4(PEX6):c.1440TGC[2] (p.Ala483del)
|
rs1554127389
|
|
NM_000287.4(PEX6):c.1449C>A (p.Ala483=)
|
|
|
NM_000287.4(PEX6):c.1456C>T (p.His486Tyr)
|
rs1320010518
|
|
NM_000287.4(PEX6):c.1458C>T (p.His486=)
|
|
|
NM_000287.4(PEX6):c.1463G>A (p.Gly488Glu)
|
|
|
NM_000287.4(PEX6):c.1464G>T (p.Gly488=)
|
rs1581764611
|
|
NM_000287.4(PEX6):c.1470C>T (p.His490=)
|
rs897608716
|
|
NM_000287.4(PEX6):c.1476G>A (p.Leu492=)
|
rs2114245819
|
|
NM_000287.4(PEX6):c.1478A>T (p.Lys493Met)
|
|
|
NM_000287.4(PEX6):c.1479+10_1479+11insA
|
|
|
NM_000287.4(PEX6):c.1479+11_1479+12del
|
|
|
NM_000287.4(PEX6):c.1479+12T>C
|
|
|
NM_000287.4(PEX6):c.1479+13G>C
|
|
|
NM_000287.4(PEX6):c.1479+1G>A
|
|
|
NM_000287.4(PEX6):c.1479+2del
|
rs1554127383
|
|
NM_000287.4(PEX6):c.1479+4A>T
|
rs2114245810
|
|
NM_000287.4(PEX6):c.1479+6_1479+9del
|
|
|
NM_000287.4(PEX6):c.1479+7G>A
|
rs528161793
|
|
NM_000287.4(PEX6):c.1479+7G>T
|
rs528161793
|
|
NM_000287.4(PEX6):c.1479+9C>A
|
|
|
NM_000287.4(PEX6):c.1480-11C>A
|
|
|
NM_000287.4(PEX6):c.1480-17T>C
|
|
|
NM_000287.4(PEX6):c.1480-4C>T
|
|
|
NM_000287.4(PEX6):c.1480-6C>T
|
|
|
NM_000287.4(PEX6):c.1480-7T>C
|
|
|
NM_000287.4(PEX6):c.1480-8C>T
|
|
|
NM_000287.4(PEX6):c.1480-9C>T
|
rs1421047167
|
|
NM_000287.4(PEX6):c.1482G>A (p.Val494=)
|
|
|
NM_000287.4(PEX6):c.1483C>T (p.Pro495Ser)
|
|
|
NM_000287.4(PEX6):c.1489T>C (p.Ser497Pro)
|
rs2114245129
|
|
NM_000287.4(PEX6):c.1497C>T (p.Leu499=)
|
|
|
NM_000287.4(PEX6):c.1504G>T (p.Glu502Ter)
|
|
|
NM_000287.4(PEX6):c.1509T>C (p.Ser503=)
|
rs1268177698
|
|
NM_000287.4(PEX6):c.150G>A (p.Pro50=)
|
rs1475357223
|
|
NM_000287.4(PEX6):c.1513G>A (p.Gly505Arg)
|
rs1769929969
|
|
NM_000287.4(PEX6):c.1515G>C (p.Gly505=)
|
rs1335610343
|
|
NM_000287.4(PEX6):c.1518T>C (p.Ala506=)
|
|
|
NM_000287.4(PEX6):c.1519G>A (p.Val507Met)
|
|
|
NM_000287.4(PEX6):c.1519G>C (p.Val507Leu)
|
rs1355702643
|
|
NM_000287.4(PEX6):c.1521G>A (p.Val507=)
|
|
|
NM_000287.4(PEX6):c.1522del (p.Glu508fs)
|
rs754684285
|
|
NM_000287.4(PEX6):c.1524G>A (p.Glu508=)
|
|
|
NM_000287.4(PEX6):c.152C>T (p.Ala51Val)
|
|
|
NM_000287.4(PEX6):c.1536G>A (p.Gln512=)
|
|
|
NM_000287.4(PEX6):c.1539C>T (p.Ala513=)
|
|
|
NM_000287.4(PEX6):c.153G>A (p.Ala51=)
|
rs1179672531
|
|
NM_000287.4(PEX6):c.1544T>A (p.Phe515Tyr)
|
rs778534336
|
|
NM_000287.4(PEX6):c.1544T>C (p.Phe515Ser)
|
|
|
NM_000287.4(PEX6):c.1547C>G (p.Ser516Cys)
|
|
|
NM_000287.4(PEX6):c.1548C>T (p.Ser516=)
|
rs2114244957
|
|
NM_000287.4(PEX6):c.1549C>A (p.Arg517=)
|
rs754790139
|
|
NM_000287.4(PEX6):c.154C>G (p.Leu52Val)
|
rs2150240677
|
|
NM_000287.4(PEX6):c.1550G>C (p.Arg517Pro)
|
rs371782808
|
|
NM_000287.4(PEX6):c.1551G>A (p.Arg517=)
|
|
|
NM_000287.4(PEX6):c.1551G>C (p.Arg517=)
|
rs766045376
|
|
NM_000287.4(PEX6):c.1551G>T (p.Arg517=)
|
rs766045376
|
|
NM_000287.4(PEX6):c.1556G>T (p.Arg519Leu)
|
|
|
NM_000287.4(PEX6):c.1557C>T (p.Arg519=)
|
|
|
NM_000287.4(PEX6):c.1559G>A (p.Arg520His)
|
|
|
NM_000287.4(PEX6):c.1559G>T (p.Arg520Leu)
|
|
|
NM_000287.4(PEX6):c.1564C>T (p.Arg522Trp)
|
|
|
NM_000287.4(PEX6):c.1565G>A (p.Arg522Gln)
|
rs374396138
|
|
NM_000287.4(PEX6):c.1565G>C (p.Arg522Pro)
|
|
|
NM_000287.4(PEX6):c.1566G>C (p.Arg522=)
|
|
|
NM_000287.4(PEX6):c.1566G>T (p.Arg522=)
|
rs950336722
|
|
NM_000287.4(PEX6):c.1570G>A (p.Ala524Thr)
|
|
|
NM_000287.4(PEX6):c.1573dup (p.Val525fs)
|
rs2114244815
|
|
NM_000287.4(PEX6):c.1586C>T (p.Thr529Ile)
|
rs771639281
|
|
NM_000287.4(PEX6):c.1586_1587dup (p.Ala530fs)
|
|
|
NM_000287.4(PEX6):c.1587A>G (p.Thr529=)
|
|
|
NM_000287.4(PEX6):c.1588G>T (p.Ala530Ser)
|
|
|
NM_000287.4(PEX6):c.159G>A (p.Leu53=)
|
rs2150240669
|
|
NM_000287.4(PEX6):c.159G>T (p.Leu53=)
|
rs2150240669
|
|
NM_000287.4(PEX6):c.1601T>C (p.Leu534Pro)
|
rs387906809
|
|
NM_000287.4(PEX6):c.160_243del (p.Val54_Leu81del)
|
rs1770436260
|
|
NM_000287.4(PEX6):c.1611C>G (p.Asp537Glu)
|
rs2114244744
|
|
NM_000287.4(PEX6):c.1618G>A (p.Gly540Arg)
|
|
|
NM_000287.4(PEX6):c.161T>G (p.Val54Gly)
|
rs2150240668
|
|
NM_000287.4(PEX6):c.1620G>A (p.Gly540=)
|
rs2114244710
|
|
NM_000287.4(PEX6):c.1624G>A (p.Gly542Ser)
|
rs1769923693
|
|
NM_000287.4(PEX6):c.1627G>A (p.Glu543Lys)
|
rs143549190
|
|
NM_000287.4(PEX6):c.1629G>C (p.Glu543Asp)
|
|
|
NM_000287.4(PEX6):c.1630G>A (p.Asp544Asn)
|
rs2114244681
|
|
NM_000287.4(PEX6):c.1632T>C (p.Asp544=)
|
|
|
NM_000287.4(PEX6):c.1634C>T (p.Ala545Val)
|
rs2114244672
|
|
NM_000287.4(PEX6):c.1638T>C (p.Arg546=)
|
rs1769922737
|
|
NM_000287.4(PEX6):c.1638T>G (p.Arg546=)
|
|
|
NM_000287.4(PEX6):c.1639G>A (p.Val547Met)
|
|
|
NM_000287.4(PEX6):c.1640_1641del (p.Val547fs)
|
|
|
NM_000287.4(PEX6):c.1642A>G (p.Met548Val)
|
|
|
NM_000287.4(PEX6):c.1644G>C (p.Met548Ile)
|
|
|
NM_000287.4(PEX6):c.1655G>A (p.Arg552His)
|
|
|
NM_000287.4(PEX6):c.1665C>T (p.Leu555=)
|
rs777182627
|
|
NM_000287.4(PEX6):c.1668C>A (p.Leu556=)
|
|
|
NM_000287.4(PEX6):c.1672G>A (p.Glu558Lys)
|
|
|
NM_000287.4(PEX6):c.1674G>A (p.Glu558=)
|
|
|
NM_000287.4(PEX6):c.1677C>T (p.Asp559=)
|
|
|
NM_000287.4(PEX6):c.1681C>T (p.Leu561Phe)
|
|
|
NM_000287.4(PEX6):c.1681del (p.Leu561fs)
|
rs1200299979
|
|
NM_000287.4(PEX6):c.1683C>T (p.Leu561=)
|
|
|
NM_000287.4(PEX6):c.1685A>G (p.Asn562Ser)
|
|
|
NM_000287.4(PEX6):c.1686C>T (p.Asn562=)
|
|
|
NM_000287.4(PEX6):c.1688+11A>T
|
|
|
NM_000287.4(PEX6):c.1688+1G>A
|
rs112298166
|
|
NM_000287.4(PEX6):c.1688+1G>T
|
rs112298166
|
|
NM_000287.4(PEX6):c.1688+20C>T
|
rs2114244389
|
|
NM_000287.4(PEX6):c.1688+8T>C
|
rs2114244420
|
|
NM_000287.4(PEX6):c.1689-10C>G
|
|
|
NM_000287.4(PEX6):c.1689-12C>T
|
|
|
NM_000287.4(PEX6):c.1689-16A>G
|
|
|
NM_000287.4(PEX6):c.1689-17C>G
|
|
|
NM_000287.4(PEX6):c.1689-18C>T
|
|
|
NM_000287.4(PEX6):c.1689-1G>A
|
rs267608223
|
|
NM_000287.4(PEX6):c.1689-20G>A
|
|
|
NM_000287.4(PEX6):c.1689-3C>T
|
rs769573987
|
|
NM_000287.4(PEX6):c.1689-8G>T
|
rs2114242954
|
|
NM_000287.4(PEX6):c.1690_1693dup (p.Pro565fs)
|
rs2114242907
|
|
NM_000287.4(PEX6):c.1691del (p.Cys564fs)
|
rs2114242920
|
|
NM_000287.4(PEX6):c.1692C>T (p.Cys564=)
|
rs1385474057
|
|
NM_000287.4(PEX6):c.1698C>T (p.Pro566=)
|
rs745479170
|
|
NM_000287.4(PEX6):c.1699C>A (p.Leu567Ile)
|
|
|
NM_000287.4(PEX6):c.16T>C (p.Leu6=)
|
|
|
NM_000287.4(PEX6):c.1702A>T (p.Met568Leu)
|
rs2114242869
|
|
NM_000287.4(PEX6):c.1706T>C (p.Val569Ala)
|
|
|
NM_000287.4(PEX6):c.1708G>A (p.Val570Met)
|
rs2114242847
|
|
NM_000287.4(PEX6):c.1709T>C (p.Val570Ala)
|
|
|
NM_000287.4(PEX6):c.170T>C (p.Leu57Pro)
|
rs61752140
|
|
NM_000287.4(PEX6):c.1715C>T (p.Thr572Ile)
|
rs61753224
|
|
NM_000287.4(PEX6):c.1716C>A (p.Thr572=)
|
rs2114242807
|
|
NM_000287.4(PEX6):c.1719A>T (p.Thr573=)
|
|
|
NM_000287.4(PEX6):c.171G>A (p.Leu57=)
|
rs1233980145
|
|
NM_000287.4(PEX6):c.171G>C (p.Leu57=)
|
rs1233980145
|
|
NM_000287.4(PEX6):c.1723C>A (p.Arg575=)
|
rs755211783
|
|
NM_000287.4(PEX6):c.1723C>T (p.Arg575Trp)
|
rs755211783
|
|
NM_000287.4(PEX6):c.1724G>A (p.Arg575Gln)
|
rs754034834
|
|
NM_000287.4(PEX6):c.1724G>T (p.Arg575Leu)
|
|
|
NM_000287.4(PEX6):c.1734C>T (p.Asp578=)
|
rs1769880127
|
|
NM_000287.4(PEX6):c.1737G>C (p.Leu579=)
|
|
|
NM_000287.4(PEX6):c.1740T>G (p.Pro580=)
|
rs2114242721
|
|
NM_000287.4(PEX6):c.1741G>A (p.Ala581Thr)
|
rs1316254924
|
|
NM_000287.4(PEX6):c.1743T>C (p.Ala581=)
|
|
|
NM_000287.4(PEX6):c.174G>A (p.Glu58=)
|
rs2150240649
|
|
NM_000287.4(PEX6):c.1750C>T (p.Gln584Ter)
|
|
|
NM_000287.4(PEX6):c.1756G>A (p.Ala586Thr)
|
rs1309200431
|
|
NM_000287.4(PEX6):c.1756_1757delinsAA (p.Ala586Lys)
|
|
|
NM_000287.4(PEX6):c.1765C>T (p.His589Tyr)
|
rs2114242678
|
|
NM_000287.4(PEX6):c.1771C>T (p.Leu591Phe)
|
rs2114242669
|
|
NM_000287.4(PEX6):c.1774G>A (p.Glu592Lys)
|
rs375288192
|
|
NM_000287.4(PEX6):c.1774G>C (p.Glu592Gln)
|
rs375288192
|
|
NM_000287.4(PEX6):c.1774G>T (p.Glu592Ter)
|
rs375288192
|
|
NM_000287.4(PEX6):c.1782_1807dup (p.Ser603fs)
|
rs2114242538
|
|
NM_000287.4(PEX6):c.1783G>A (p.Ala595Thr)
|
|
|
NM_000287.4(PEX6):c.1785T>C (p.Ala595=)
|
rs2114242625
|
|
NM_000287.4(PEX6):c.1788G>A (p.Leu596=)
|
rs2114242620
|
|
NM_000287.4(PEX6):c.1788G>C (p.Leu596=)
|
rs2114242620
|
|
NM_000287.4(PEX6):c.1789T>C (p.Ser597Pro)
|
|
|
NM_000287.4(PEX6):c.1790C>G (p.Ser597Ter)
|
|
|
NM_000287.4(PEX6):c.179C>T (p.Pro60Leu)
|
|
|
NM_000287.4(PEX6):c.1805del (p.Leu602fs)
|
rs2114242547
|
|
NM_000287.4(PEX6):c.1809C>T (p.Ser603=)
|
|
|
NM_000287.4(PEX6):c.180G>A (p.Pro60=)
|
rs2150240640
|
|
NM_000287.4(PEX6):c.180G>T (p.Pro60=)
|
rs2150240640
|
|
NM_000287.4(PEX6):c.1812C>A (p.Ile604=)
|
rs2114242525
|
|
NM_000287.4(PEX6):c.1816C>T (p.Arg606Trp)
|
|
|
NM_000287.4(PEX6):c.1818G>A (p.Arg606=)
|
rs2114242478
|
|
NM_000287.4(PEX6):c.181G>A (p.Asp61Asn)
|
|
|
NM_000287.4(PEX6):c.1821C>A (p.Ala607=)
|
rs201730259
|
|
NM_000287.4(PEX6):c.1823T>C (p.Leu608Pro)
|
rs1561821635
|
|
NM_000287.4(PEX6):c.1824C>T (p.Leu608=)
|
|
|
NM_000287.4(PEX6):c.1826C>T (p.Thr609Ile)
|
rs2114242443
|
|
NM_000287.4(PEX6):c.1833C>G (p.His611Gln)
|
rs1335182312
|
|
NM_000287.4(PEX6):c.1833C>T (p.His611=)
|
rs1335182312
|
|
NM_000287.4(PEX6):c.183C>T (p.Asp61=)
|
rs2150240636
|
|
NM_000287.4(PEX6):c.1842G>A (p.Leu614=)
|
|
|
NM_000287.4(PEX6):c.1849G>A (p.Glu617Lys)
|
|
|
NM_000287.4(PEX6):c.1851G>A (p.Glu617=)
|
rs1769870435
|
|
NM_000287.4(PEX6):c.1854G>T (p.Val618=)
|
rs990806538
|
|
NM_000287.4(PEX6):c.1866G>A (p.Gln622=)
|
|
|
NM_000287.4(PEX6):c.1866G>T (p.Gln622His)
|
|
|
NM_000287.4(PEX6):c.186G>A (p.Ala62=)
|
|
|
NM_000287.4(PEX6):c.1870G>T (p.Ala624Ser)
|
|
|
NM_000287.4(PEX6):c.1871C>T (p.Ala624Val)
|
rs2114242326
|
|
NM_000287.4(PEX6):c.1872A>G (p.Ala624=)
|
rs2114242320
|
|
NM_000287.4(PEX6):c.1873C>T (p.Arg625Trp)
|
|
|
NM_000287.4(PEX6):c.1874G>A (p.Arg625Gln)
|
rs1769868642
|
|
NM_000287.4(PEX6):c.1875G>A (p.Arg625=)
|
|
|
NM_000287.4(PEX6):c.1878G>A (p.Arg626=)
|
|
|
NM_000287.4(PEX6):c.187G>T (p.Gly63Cys)
|
|
|
NM_000287.4(PEX6):c.1880G>A (p.Cys627Tyr)
|
rs2114242285
|
|
NM_000287.4(PEX6):c.1881T>G (p.Cys627Trp)
|
|
|
NM_000287.4(PEX6):c.1884+10A>G
|
rs2114242251
|
|
NM_000287.4(PEX6):c.1884+11A>G
|
rs2114242243
|
|
NM_000287.4(PEX6):c.1884+14G>A
|
|
|
NM_000287.4(PEX6):c.1884+15A>G
|
|
|
NM_000287.4(PEX6):c.1884+18G>A
|
|
|
NM_000287.4(PEX6):c.1884+18G>T
|
|
|
NM_000287.4(PEX6):c.1884+1G>A
|
|
|
NM_000287.4(PEX6):c.1884+20A>T
|
|
|
NM_000287.4(PEX6):c.1884+8T>G
|
rs2114242263
|
|
NM_000287.4(PEX6):c.1885-19C>A
|
|
|
NM_000287.4(PEX6):c.1885-1G>A
|
|
|
NM_000287.4(PEX6):c.1885-20C>T
|
|
|
NM_000287.4(PEX6):c.1885-4del
|
|
|
NM_000287.4(PEX6):c.1885-5C>T
|
|
|
NM_000287.4(PEX6):c.1885-6C>T
|
|
|
NM_000287.4(PEX6):c.1887C>A (p.Gly629=)
|
rs2114241047
|
|
NM_000287.4(PEX6):c.1891del (p.Val631fs)
|
rs2114241031
|
|
NM_000287.4(PEX6):c.1893G>A (p.Val631=)
|
|
|
NM_000287.4(PEX6):c.1893G>C (p.Val631=)
|
|
|
NM_000287.4(PEX6):c.1896A>T (p.Val632=)
|
rs2114241015
|
|
NM_000287.4(PEX6):c.1899G>A (p.Gly633=)
|
|
|
NM_000287.4(PEX6):c.18G>A (p.Leu6=)
|
rs2150240933
|
|
NM_000287.4(PEX6):c.1900G>A (p.Asp634Asn)
|
rs2114241000
|
|
NM_000287.4(PEX6):c.1900G>T (p.Asp634Tyr)
|
|
|
NM_000287.4(PEX6):c.1905C>T (p.Leu635=)
|
|
|
NM_000287.4(PEX6):c.1908T>A (p.Tyr636Ter)
|
|
|
NM_000287.4(PEX6):c.1910C>G (p.Ala637Gly)
|
rs2114240982
|
|
NM_000287.4(PEX6):c.1920C>T (p.Thr640=)
|
rs768582992
|
|
NM_000287.4(PEX6):c.1922A>C (p.His641Pro)
|
|
|
NM_000287.4(PEX6):c.1923C>T (p.His641=)
|
|
|
NM_000287.4(PEX6):c.192C>A (p.Thr64=)
|
rs1310661091
|
|
NM_000287.4(PEX6):c.1930C>T (p.Arg644Trp)
|
rs769896492
|
|
NM_000287.4(PEX6):c.1935A>C (p.Ala645=)
|
rs1769827119
|
|
NM_000287.4(PEX6):c.193G>A (p.Glu65Lys)
|
|
|
NM_000287.4(PEX6):c.1940_1941delinsAT (p.Cys647Tyr)
|
rs2114240908
|
|
NM_000287.4(PEX6):c.1944C>T (p.Thr648=)
|
|
|
NM_000287.4(PEX6):c.1947del (p.Ile650fs)
|
rs267608227
|
|
NM_000287.4(PEX6):c.1961+11G>T
|
|
|
NM_000287.4(PEX6):c.1961+15G>A
|
|
|
NM_000287.4(PEX6):c.1961+16C>A
|
|
|
NM_000287.4(PEX6):c.1961+16C>T
|
|
|
NM_000287.4(PEX6):c.1961+18C>A
|
|
|
NM_000287.4(PEX6):c.1961+18C>G
|
|
|
NM_000287.4(PEX6):c.1961+20G>T
|
rs2274514
|
|
NM_000287.4(PEX6):c.1962-10C>T
|
rs2114240598
|
|
NM_000287.4(PEX6):c.1962-12del
|
|
|
NM_000287.4(PEX6):c.1962-17T>C
|
|
|
NM_000287.4(PEX6):c.1962-20C>T
|
|
|
NM_000287.4(PEX6):c.1962-4G>T
|
|
|
NM_000287.4(PEX6):c.1962-5T>G
|
|
|
NM_000287.4(PEX6):c.1962-6_1962-5del
|
rs776963487
|
|
NM_000287.4(PEX6):c.1962-7T>C
|
rs1195586544
|
|
NM_000287.4(PEX6):c.1963_1965delinsCT (p.Ala656fs)
|
|
|
NM_000287.4(PEX6):c.1968A>G (p.Ala656=)
|
|
|
NM_000287.4(PEX6):c.196G>A (p.Glu66Lys)
|
|
|
NM_000287.4(PEX6):c.1970G>A (p.Gly657Asp)
|
rs2114240555
|
|
NM_000287.4(PEX6):c.1974C>A (p.Gly658=)
|
|
|
NM_000287.4(PEX6):c.1982A>C (p.Glu661Ala)
|
rs2114240531
|
|
NM_000287.4(PEX6):c.1989T>C (p.Asp663=)
|
|
|
NM_000287.4(PEX6):c.1992G>A (p.Glu664=)
|
rs267608230
|
|
NM_000287.4(PEX6):c.1993G>T (p.Gly665Trp)
|
|
|
NM_000287.4(PEX6):c.1996G>T (p.Glu666Ter)
|
rs1769818844
|
|
NM_000287.4(PEX6):c.1998G>A (p.Glu666=)
|
|
|
NM_000287.4(PEX6):c.1998G>T (p.Glu666Asp)
|
|
|
NM_000287.4(PEX6):c.1999C>T (p.Leu667=)
|
|
|
NM_000287.4(PEX6):c.19C>A (p.Arg7=)
|
rs1217791583
|
|
NM_000287.4(PEX6):c.1A>G (p.Met1Val)
|
|
|
NM_000287.4(PEX6):c.1A>T (p.Met1Leu)
|
|
|
NM_000287.4(PEX6):c.2001G>A (p.Leu667=)
|
|
|
NM_000287.4(PEX6):c.2010del (p.Gly671fs)
|
|
|
NM_000287.4(PEX6):c.2017C>T (p.Pro673Ser)
|
|
|
NM_000287.4(PEX6):c.2018C>G (p.Pro673Arg)
|
rs2114240452
|
|
NM_000287.4(PEX6):c.2020_2022delinsGTCTCTTATACACATCTGT (p.Leu674fs)
|
|
|
NM_000287.4(PEX6):c.2022C>T (p.Leu674=)
|
|
|
NM_000287.4(PEX6):c.2023C>T (p.Leu675=)
|
|
|
NM_000287.4(PEX6):c.2026G>A (p.Ala676Thr)
|
|
|
NM_000287.4(PEX6):c.202G>C (p.Gly68Arg)
|
rs752644254
|
|
NM_000287.4(PEX6):c.202_219del (p.Gly68_Gln73del)
|
rs1162020526
|
|
NM_000287.4(PEX6):c.2031G>A (p.Glu677=)
|
|
|
NM_000287.4(PEX6):c.2037T>C (p.Phe679=)
|
|
|
NM_000287.4(PEX6):c.2040G>A (p.Gly680=)
|
rs2114240422
|
|
NM_000287.4(PEX6):c.2049G>A (p.Leu683=)
|
rs1769817453
|
|
NM_000287.4(PEX6):c.2058G>A (p.Leu686=)
|
|
|
NM_000287.4(PEX6):c.205C>T (p.Pro69Ser)
|
|
|
NM_000287.4(PEX6):c.2063del (p.Thr688fs)
|
|
|
NM_000287.4(PEX6):c.2064A>C (p.Thr688=)
|
rs2114240371
|
|
NM_000287.4(PEX6):c.2066C>T (p.Ala689Val)
|
rs1396207688
|
|
NM_000287.4(PEX6):c.2074C>T (p.Gln692Ter)
|
rs201306028
|
|
NM_000287.4(PEX6):c.2079C>A (p.Ala693=)
|
|
|
NM_000287.4(PEX6):c.207C>G (p.Pro69=)
|
rs11539736
|
|
NM_000287.4(PEX6):c.2082T>C (p.Val694=)
|
|
|
NM_000287.4(PEX6):c.2082del (p.Gly695fs)
|
rs766483138
|
|
NM_000287.4(PEX6):c.2085A>C (p.Gly695=)
|
|
|
NM_000287.4(PEX6):c.2088C>G (p.Ala696=)
|
|
|
NM_000287.4(PEX6):c.208G>A (p.Gly70Arg)
|
rs2150240598
|
|
NM_000287.4(PEX6):c.2091C>A (p.Pro697=)
|
|
|
NM_000287.4(PEX6):c.2093A>G (p.Lys698Arg)
|
rs2114240305
|
|
NM_000287.4(PEX6):c.2094+11del
|
|
|
NM_000287.4(PEX6):c.2094+16T>C
|
|
|
NM_000287.4(PEX6):c.2094+19G>A
|
rs2114240256
|
|
NM_000287.4(PEX6):c.2094+1G>A
|
rs1581760572
|
|
NM_000287.4(PEX6):c.2094+4G>A
|
rs943511270
|
|
NM_000287.4(PEX6):c.2094+4G>C
|
rs943511270
|
|
NM_000287.4(PEX6):c.2094+4_2094+6del
|
|
|
NM_000287.4(PEX6):c.2094+8C>A
|
|
|
NM_000287.4(PEX6):c.2094+9del
|
rs2114240279
|
|
NM_000287.4(PEX6):c.2094G>A (p.Lys698=)
|
|
|
NM_000287.4(PEX6):c.2095-12T>C
|
|
|
NM_000287.4(PEX6):c.2095-13T>C
|
|
|
NM_000287.4(PEX6):c.2095-15C>T
|
|
|
NM_000287.4(PEX6):c.2095-16A>G
|
|
|
NM_000287.4(PEX6):c.2095-17C>T
|
|
|
NM_000287.4(PEX6):c.2095-21_2095-10del
|
rs772869377
|
|
NM_000287.4(PEX6):c.2095-2A>G
|
|
|
NM_000287.4(PEX6):c.2095-4C>T
|
|
|
NM_000287.4(PEX6):c.2095-9A>G
|
|
|
NM_000287.4(PEX6):c.2100C>G (p.Pro700=)
|
|
|
NM_000287.4(PEX6):c.2103A>G (p.Ser701=)
|
rs2114240136
|
|
NM_000287.4(PEX6):c.2111G>C (p.Trp704Ser)
|
|
|
NM_000287.4(PEX6):c.2118T>C (p.Asp706=)
|
rs1643998562
|
|
NM_000287.4(PEX6):c.2120dup (p.Gly709fs)
|
|
|
NM_000287.4(PEX6):c.2124_2127del (p.Gly709fs)
|
|
|
NM_000287.4(PEX6):c.2125G>A (p.Gly709Arg)
|
rs1254717257
|
|
NM_000287.4(PEX6):c.2128C>T (p.Leu710=)
|
rs2114240061
|
|
NM_000287.4(PEX6):c.212del (p.Pro71fs)
|
rs2150240582
|
|
NM_000287.4(PEX6):c.2130G>A (p.Leu710=)
|
rs944937782
|
|
NM_000287.4(PEX6):c.213G>C (p.Pro71=)
|
rs1461633447
|
|
NM_000287.4(PEX6):c.2148G>C (p.Glu716Asp)
|
|
|
NM_000287.4(PEX6):c.2150T>C (p.Ile717Thr)
|
rs2114239994
|
|
NM_000287.4(PEX6):c.2152C>G (p.Leu718Val)
|
rs1769807803
|
|
NM_000287.4(PEX6):c.2154G>A (p.Leu718=)
|
rs771745520
|
|
NM_000287.4(PEX6):c.2154_2155del (p.Glu719fs)
|
|
|
NM_000287.4(PEX6):c.2160C>G (p.Thr720=)
|
|
|
NM_000287.4(PEX6):c.2160C>T (p.Thr720=)
|
rs1313491168
|
|
NM_000287.4(PEX6):c.2163T>C (p.Ile721=)
|
|
|
NM_000287.4(PEX6):c.2165_2166del (p.Gln722fs)
|
|
|
NM_000287.4(PEX6):c.2166G>A (p.Gln722=)
|
|
|
NM_000287.4(PEX6):c.2167C>G (p.Leu723Val)
|
|
|
NM_000287.4(PEX6):c.2169C>T (p.Leu723=)
|
|
|
NM_000287.4(PEX6):c.216G>T (p.Pro72=)
|
rs2150240570
|
|
NM_000287.4(PEX6):c.2171C>T (p.Pro724Leu)
|
rs201270008
|
|
NM_000287.4(PEX6):c.2172C>G (p.Pro724=)
|
rs1463523319
|
|
NM_000287.4(PEX6):c.2173C>T (p.Leu725=)
|
rs796113440
|
|
NM_000287.4(PEX6):c.217C>T (p.Gln73Ter)
|
|
|
NM_000287.4(PEX6):c.2181C>T (p.His727=)
|
|
|
NM_000287.4(PEX6):c.2184T>A (p.Pro728=)
|
rs2114239893
|
|
NM_000287.4(PEX6):c.2190A>G (p.Leu730=)
|
|
|
NM_000287.4(PEX6):c.2192T>G (p.Leu731Arg)
|
|
|
NM_000287.4(PEX6):c.2193G>A (p.Leu731=)
|
rs1769805711
|
|
NM_000287.4(PEX6):c.2195G>T (p.Ser732Ile)
|
|
|
NM_000287.4(PEX6):c.2196C>G (p.Ser732Arg)
|
rs1485203588
|
|
NM_000287.4(PEX6):c.2198T>C (p.Leu733Pro)
|
rs1581760232
|
|
NM_000287.4(PEX6):c.21G>A (p.Arg7=)
|
|
|
NM_000287.4(PEX6):c.2202C>A (p.Gly734=)
|
rs2114239852
|
|
NM_000287.4(PEX6):c.2203C>T (p.Leu735=)
|
rs2114239848
|
|
NM_000287.4(PEX6):c.2208A>G (p.Arg736=)
|
rs1769804754
|
|
NM_000287.4(PEX6):c.2211C>T (p.Arg737=)
|
rs1769804334
|
|
NM_000287.4(PEX6):c.2214A>T (p.Ser738=)
|
rs1769804133
|
|
NM_000287.4(PEX6):c.2224C>T (p.Leu742Phe)
|
|
|
NM_000287.4(PEX6):c.2226C>T (p.Leu742=)
|
rs1769803541
|
|
NM_000287.4(PEX6):c.2227del (p.His743fs)
|
|
|
NM_000287.4(PEX6):c.222A>G (p.Leu74=)
|
|
|
NM_000287.4(PEX6):c.2232G>T (p.Gly744=)
|
|
|
NM_000287.4(PEX6):c.2241C>T (p.Gly747=)
|
rs2114239728
|
|
NM_000287.4(PEX6):c.2244del (p.Gly749fs)
|
|
|
NM_000287.4(PEX6):c.224T>C (p.Leu75Pro)
|
|
|
NM_000287.4(PEX6):c.2250G>A (p.Lys750=)
|
rs2114239706
|
|
NM_000287.4(PEX6):c.2253C>T (p.Thr751=)
|
rs369174722
|
|
NM_000287.4(PEX6):c.2261C>T (p.Ala754Val)
|
|
|
NM_000287.4(PEX6):c.2265_2266insCTCCCCAGCCT (p.Ala756fs)
|
|
|
NM_000287.4(PEX6):c.2268A>T (p.Ala756=)
|
rs1769801311
|
|
NM_000287.4(PEX6):c.226G>A (p.Val76Ile)
|
|
|
NM_000287.4(PEX6):c.2272G>A (p.Ala758Thr)
|
rs1769800975
|
|
NM_000287.4(PEX6):c.2273C>A (p.Ala758Asp)
|
|
|
NM_000287.4(PEX6):c.2276_2277del (p.Thr759fs)
|
|
|
NM_000287.4(PEX6):c.2286C>T (p.Ser762=)
|
rs2114239613
|
|
NM_000287.4(PEX6):c.2289T>G (p.Leu763=)
|
|
|
NM_000287.4(PEX6):c.2289del (p.Thr764fs)
|
|
|
NM_000287.4(PEX6):c.2292C>A (p.Thr764=)
|
|
|
NM_000287.4(PEX6):c.2300+10G>A
|
rs2114239578
|
|
NM_000287.4(PEX6):c.2300+11G>A
|
|
|
NM_000287.4(PEX6):c.2300+8G>A
|
|
|
NM_000287.4(PEX6):c.2300+9G>A
|
rs1181349199
|
|
NM_000287.4(PEX6):c.2301-11C>T
|
|
|
NM_000287.4(PEX6):c.2301-15C>A
|
|
|
NM_000287.4(PEX6):c.2301-15C>T
|
rs267608236
|
|
NM_000287.4(PEX6):c.2301-16A>C
|
|
|
NM_000287.4(PEX6):c.2301-20_2301-18del
|
|
|
NM_000287.4(PEX6):c.2301-5C>T
|
rs267608238
|
|
NM_000287.4(PEX6):c.2301-5_2301-2del
|
rs748032659
|
|
NM_000287.4(PEX6):c.2301-7C>T
|
|
|
NM_000287.4(PEX6):c.2301-8T>C
|
|
|
NM_000287.4(PEX6):c.2301-9C>A
|
rs1769791098
|
|
NM_000287.4(PEX6):c.2301-9C>G
|
rs1769791098
|
|
NM_000287.4(PEX6):c.2301-9C>T
|
|
|
NM_000287.4(PEX6):c.2301C>T (p.Ser767=)
|
|
|
NM_000287.4(PEX6):c.2302G>A (p.Val768Met)
|
|
|
NM_000287.4(PEX6):c.2304G>A (p.Val768=)
|
rs1387258527
|
|
NM_000287.4(PEX6):c.2306A>C (p.Lys769Thr)
|
|
|
NM_000287.4(PEX6):c.2313_2315delinsTGCCCCTCCCT (p.Glu772fs)
|
|
|
NM_000287.4(PEX6):c.2315del (p.Glu772fs)
|
|
|
NM_000287.4(PEX6):c.2316G>T (p.Glu772Asp)
|
|
|
NM_000287.4(PEX6):c.231C>A (p.Ser77Arg)
|
rs1770437263
|
|
NM_000287.4(PEX6):c.2325C>T (p.Asn775=)
|
rs2114239277
|
|
NM_000287.4(PEX6):c.2327T>C (p.Met776Thr)
|
rs2114239270
|
|
NM_000287.4(PEX6):c.2334G>T (p.Val778=)
|
|
|
NM_000287.4(PEX6):c.2343T>C (p.Ser781=)
|
rs1769788025
|
|
NM_000287.4(PEX6):c.2350A>G (p.Asn784Asp)
|
rs929525105
|
|
NM_000287.4(PEX6):c.2351A>G (p.Asn784Ser)
|
rs1769787466
|
|
NM_000287.4(PEX6):c.2352T>C (p.Asn784=)
|
rs2114239219
|
|
NM_000287.4(PEX6):c.235G>A (p.Ala79Thr)
|
rs61752141
|
|
NM_000287.4(PEX6):c.235G>C (p.Ala79Pro)
|
rs61752141
|
|
NM_000287.4(PEX6):c.2361del (p.Val788fs)
|
|
|
NM_000287.4(PEX6):c.2362+10C>G
|
rs755336114
|
|
NM_000287.4(PEX6):c.2362+10C>T
|
rs755336114
|
|
NM_000287.4(PEX6):c.2362+19G>T
|
|
|
NM_000287.4(PEX6):c.2362+20C>A
|
|
|
NM_000287.4(PEX6):c.2362+7G>A
|
|
|
NM_000287.4(PEX6):c.2362+9_2362+10delinsAA
|
|
|
NM_000287.4(PEX6):c.2363-10C>G
|
rs370221316
|
|
NM_000287.4(PEX6):c.2363-10C>T
|
rs370221316
|
|
NM_000287.4(PEX6):c.2363-10dup
|
|
|
NM_000287.4(PEX6):c.2363-11T>C
|
rs2114238716
|
|
NM_000287.4(PEX6):c.2363-14CT[4]
|
|
|
NM_000287.4(PEX6):c.2363-16C>A
|
|
|
NM_000287.4(PEX6):c.2363-16C>T
|
|
|
NM_000287.4(PEX6):c.2363-2A>C
|
rs1769772582
|
|
NM_000287.4(PEX6):c.2363-2A>G
|
|
|
NM_000287.4(PEX6):c.2363-4T>C
|
|
|
NM_000287.4(PEX6):c.2363-5_2363-4del
|
|
|
NM_000287.4(PEX6):c.2363-6C>G
|
rs2114238693
|
|
NM_000287.4(PEX6):c.2363-8C>G
|
|
|
NM_000287.4(PEX6):c.2363-8C>T
|
rs1728720291
|
|
NM_000287.4(PEX6):c.2364_2365del
|
rs755716911
|
|
NM_000287.4(PEX6):c.236C>T (p.Ala79Val)
|
|
|
NM_000287.4(PEX6):c.2370C>T (p.Ala790=)
|
rs2114238658
|
|
NM_000287.4(PEX6):c.2379G>A (p.Arg793=)
|
rs1769771037
|
|
NM_000287.4(PEX6):c.237_238del (p.Leu80fs)
|
rs1178535907
|
|
NM_000287.4(PEX6):c.2392T>C (p.Cys798Arg)
|
|
|
NM_000287.4(PEX6):c.2398_2417delinsT (p.Ile800fs)
|
rs62653602
|
|
NM_000287.4(PEX6):c.2399T>C (p.Ile800Thr)
|
rs748244253
|
|
NM_000287.4(PEX6):c.2403C>T (p.Phe801=)
|
|
|
NM_000287.4(PEX6):c.2410G>T (p.Glu804Ter)
|
|
|
NM_000287.4(PEX6):c.2419T>C (p.Ser807Pro)
|
|
|
NM_000287.4(PEX6):c.2433C>T (p.Ser811=)
|
rs749497998
|
|
NM_000287.4(PEX6):c.2434C>T (p.Arg812Trp)
|
rs61753228
|
|
NM_000287.4(PEX6):c.2434del (p.Arg812fs)
|
|
|
NM_000287.4(PEX6):c.2435_2436delinsAA (p.Arg812Gln)
|
rs2114238521
|
|
NM_000287.4(PEX6):c.2436G>T (p.Arg812=)
|
|
|
NM_000287.4(PEX6):c.2439G>C (p.Gly813=)
|
|
|
NM_000287.4(PEX6):c.2439del (p.Arg814fs)
|
rs1554126955
|
|
NM_000287.4(PEX6):c.2439dup (p.Arg814fs)
|
rs1554126955
|
|
NM_000287.4(PEX6):c.2445T>C (p.Ser815=)
|
rs2114238472
|
|
NM_000287.4(PEX6):c.2453C>G (p.Ser818Cys)
|
|
|
NM_000287.4(PEX6):c.245G>C (p.Arg82Pro)
|
rs2150240495
|
|
NM_000287.4(PEX6):c.2462del (p.Val821fs)
|
|
|
NM_000287.4(PEX6):c.2470del (p.Arg824fs)
|
rs2114238399
|
|
NM_000287.4(PEX6):c.2471+11G>A
|
|
|
NM_000287.4(PEX6):c.2471+13G>T
|
|
|
NM_000287.4(PEX6):c.2471+15G>A
|
|
|
NM_000287.4(PEX6):c.2471+1G>A
|
|
|
NM_000287.4(PEX6):c.2471+20T>A
|
|
|
NM_000287.4(PEX6):c.2471+5G>T
|
rs1213308057
|
|
NM_000287.4(PEX6):c.2472-10T>G
|
rs2114237782
|
|
NM_000287.4(PEX6):c.2472-11C>T
|
|
|
NM_000287.4(PEX6):c.2472-13C>T
|
|
|
NM_000287.4(PEX6):c.2472-16G>A
|
|
|
NM_000287.4(PEX6):c.2472-16G>T
|
|
|
NM_000287.4(PEX6):c.2472-1G>A
|
|
|
NM_000287.4(PEX6):c.2472-2A>G
|
rs267608242
|
|
NM_000287.4(PEX6):c.2472-6del
|
|
|
NM_000287.4(PEX6):c.2472-9TC[2]
|
|
|
NM_000287.4(PEX6):c.2476G>A (p.Val826Met)
|
rs1769733515
|
|
NM_000287.4(PEX6):c.2476G>T (p.Val826Leu)
|
rs1769733515
|
|
NM_000287.4(PEX6):c.2478G>A (p.Val826=)
|
rs1769733339
|
|
NM_000287.4(PEX6):c.247C>G (p.Leu83Val)
|
rs1770435941
|
|
NM_000287.4(PEX6):c.2482C>T (p.Gln828Ter)
|
rs267608243
|
|
NM_000287.4(PEX6):c.2484G>A (p.Gln828=)
|
|
|
NM_000287.4(PEX6):c.2487C>G (p.Leu829=)
|
|
|
NM_000287.4(PEX6):c.2488C>G (p.Leu830Val)
|
rs749533099
|
|
NM_000287.4(PEX6):c.2490T>C (p.Leu830=)
|
|
|
NM_000287.4(PEX6):c.249C>G (p.Leu83=)
|
|
|
NM_000287.4(PEX6):c.2503G>T (p.Gly835Trp)
|
|
|
NM_000287.4(PEX6):c.2504G>A (p.Gly835Glu)
|
|
|
NM_000287.4(PEX6):c.2511C>T (p.His837=)
|
|
|
NM_000287.4(PEX6):c.2518C>T (p.Gln840Ter)
|
|
|
NM_000287.4(PEX6):c.2524G>A (p.Val842Met)
|
|
|
NM_000287.4(PEX6):c.2535T>C (p.Ile845=)
|
rs2114237619
|
|
NM_000287.4(PEX6):c.254_259dup (p.Ala85_Leu86dup)
|
rs1554128546
|
|
NM_000287.4(PEX6):c.2559C>T (p.Leu853=)
|
rs767271773
|
|
NM_000287.4(PEX6):c.2560C>T (p.Leu854=)
|
rs2114237541
|
|
NM_000287.4(PEX6):c.2563del (p.Asp855fs)
|
|
|
NM_000287.4(PEX6):c.2565C>A (p.Asp855Glu)
|
|
|
NM_000287.4(PEX6):c.2572C>A (p.Leu858Ile)
|
rs1769725500
|
|
NM_000287.4(PEX6):c.2573T>C (p.Leu858Pro)
|
rs1769725308
|
|
NM_000287.4(PEX6):c.2574T>C (p.Leu858=)
|
rs2114237512
|
|
NM_000287.4(PEX6):c.2575C>T (p.Leu859=)
|
|
|
NM_000287.4(PEX6):c.2577G>A (p.Leu859=)
|
rs2114237503
|
|
NM_000287.4(PEX6):c.2578C>T (p.Arg860Trp)
|
rs61753230
|
|
NM_000287.4(PEX6):c.2579G>C (p.Arg860Pro)
|
rs61753231
|
|
NM_000287.4(PEX6):c.2580G>A (p.Arg860=)
|
rs1257737208
|
|
NM_000287.4(PEX6):c.2580G>T (p.Arg860=)
|
rs1257737208
|
|
NM_000287.4(PEX6):c.2581C>G (p.Pro861Ala)
|
|
|
NM_000287.4(PEX6):c.2584G>C (p.Gly862Arg)
|
|
|
NM_000287.4(PEX6):c.2587A>G (p.Arg863Gly)
|
rs1769723613
|
|
NM_000287.4(PEX6):c.2588+13T>G
|
|
|
NM_000287.4(PEX6):c.2588+14dup
|
|
|
NM_000287.4(PEX6):c.2588+15C>T
|
|
|
NM_000287.4(PEX6):c.2588+18C>T
|
|
|
NM_000287.4(PEX6):c.2588+19T>A
|
|
|
NM_000287.4(PEX6):c.2588+8C>G
|
|
|
NM_000287.4(PEX6):c.2588+9C>G
|
|
|
NM_000287.4(PEX6):c.2589-10C>T
|
|
|
NM_000287.4(PEX6):c.2589-11T>G
|
|
|
NM_000287.4(PEX6):c.2589-12A>G
|
|
|
NM_000287.4(PEX6):c.2589-19C>A
|
|
|
NM_000287.4(PEX6):c.2589-1G>A
|
|
|
NM_000287.4(PEX6):c.2589-1G>T
|
rs2114237186
|
|
NM_000287.4(PEX6):c.2589-20A>G
|
|
|
NM_000287.4(PEX6):c.2589-4A>T
|
rs759850777
|
|
NM_000287.4(PEX6):c.258G>A (p.Leu86=)
|
rs1021122110
|
|
NM_000287.4(PEX6):c.2595C>T (p.Asp865=)
|
rs776978889
|
|
NM_000287.4(PEX6):c.2601G>A (p.Leu867=)
|
|
|
NM_000287.4(PEX6):c.2601G>T (p.Leu867=)
|
rs1769712635
|
|
NM_000287.4(PEX6):c.2610G>T (p.Val870=)
|
rs1769711405
|
|
NM_000287.4(PEX6):c.2616A>T (p.Ala872=)
|
|
|
NM_000287.4(PEX6):c.2619T>C (p.Asn873=)
|
rs886043369
|
|
NM_000287.4(PEX6):c.261C>T (p.Gly87=)
|
|
|
NM_000287.4(PEX6):c.2627G>A (p.Arg876Gln)
|
|
|
NM_000287.4(PEX6):c.2631C>A (p.Ala877=)
|
|
|
NM_000287.4(PEX6):c.2634C>T (p.Ser878=)
|
rs965913951
|
|
NM_000287.4(PEX6):c.2635C>G (p.Gln879Glu)
|
rs1769709206
|
|
NM_000287.4(PEX6):c.2640A>G (p.Leu880=)
|
rs2114237030
|
|
NM_000287.4(PEX6):c.2649A>C (p.Leu883=)
|
|
|
NM_000287.4(PEX6):c.2649A>G (p.Leu883=)
|
rs752553005
|
|
NM_000287.4(PEX6):c.2658C>A (p.Ile886=)
|
rs2114236956
|
|
NM_000287.4(PEX6):c.2663G>C (p.Arg888Pro)
|
rs267608247
|
|
NM_000287.4(PEX6):c.2663G>T (p.Arg888Leu)
|
rs267608247
|
|
NM_000287.4(PEX6):c.2665A>G (p.Lys889Glu)
|
|
|
NM_000287.4(PEX6):c.2666+13A>G
|
rs2114236890
|
|
NM_000287.4(PEX6):c.2666+14G>A
|
|
|
NM_000287.4(PEX6):c.2666+19A>C
|
|
|
NM_000287.4(PEX6):c.2666+1G>T
|
rs2114236937
|
|
NM_000287.4(PEX6):c.2666+5G>A
|
rs1332626624
|
|
NM_000287.4(PEX6):c.2666+8C>G
|
|
|
NM_000287.4(PEX6):c.2666+8C>T
|
rs1769705093
|
|
NM_000287.4(PEX6):c.2666+8_2666+9del
|
|
|
NM_000287.4(PEX6):c.2667-10C>A
|
rs1554126803
|
|
NM_000287.4(PEX6):c.2667-12A>G
|
|
|
NM_000287.4(PEX6):c.2667-16C>T
|
|
|
NM_000287.4(PEX6):c.2667-2A>C
|
rs267608249
|
|
NM_000287.4(PEX6):c.2667-2A>G
|
rs267608249
|
|
NM_000287.4(PEX6):c.2667-6C>T
|
|
|
NM_000287.4(PEX6):c.2667-9C>T
|
rs2114236564
|
|
NM_000287.4(PEX6):c.2668T>C (p.Phe890Leu)
|
rs2114236546
|
|
NM_000287.4(PEX6):c.267G>C (p.Gly89=)
|
rs2150240475
|
|
NM_000287.4(PEX6):c.2691C>T (p.Ser897=)
|
|
|
NM_000287.4(PEX6):c.2692C>T (p.Leu898=)
|
|
|
NM_000287.4(PEX6):c.2692del (p.Leu898fs)
|
rs1554126798
|
|
NM_000287.4(PEX6):c.2694G>A (p.Leu898=)
|
rs1581757319
|
|
NM_000287.4(PEX6):c.2697A>G (p.Val899=)
|
rs892510772
|
|
NM_000287.4(PEX6):c.2702T>C (p.Val901Ala)
|
rs1209841271
|
|
NM_000287.4(PEX6):c.2703G>A (p.Val901=)
|
|
|
NM_000287.4(PEX6):c.2705T>C (p.Leu902Pro)
|
|
|
NM_000287.4(PEX6):c.2709T>C (p.Asp903=)
|
|
|
NM_000287.4(PEX6):c.270C>G (p.Ala90=)
|
rs760748453
|
|
NM_000287.4(PEX6):c.270C>T (p.Ala90=)
|
|
|
NM_000287.4(PEX6):c.2718T>C (p.Pro906=)
|
rs2114236423
|
|
NM_000287.4(PEX6):c.2722C>T (p.Gln908Ter)
|
rs2114236416
|
|
NM_000287.4(PEX6):c.2724G>A (p.Gln908=)
|
rs2114236409
|
|
NM_000287.4(PEX6):c.272G>C (p.Trp91Ser)
|
|
|
NM_000287.4(PEX6):c.2734G>T (p.Ala912Ser)
|
|
|
NM_000287.4(PEX6):c.2753G>A (p.Cys918Tyr)
|
rs1418426929
|
|
NM_000287.4(PEX6):c.2754C>T (p.Cys918=)
|
|
|
NM_000287.4(PEX6):c.2754_2758del (p.Cys918_Asp920delinsTer)
|
rs2114236281
|
|
NM_000287.4(PEX6):c.2757T>C (p.Ser919=)
|
rs747906867
|
|
NM_000287.4(PEX6):c.275_280dup (p.Val92_Arg93dup)
|
rs61752142
|
|
NM_000287.4(PEX6):c.2763T>A (p.Ala921=)
|
|
|
NM_000287.4(PEX6):c.2764_2765del (p.Met922fs)
|
rs1554126781
|
|
NM_000287.4(PEX6):c.2768C>T (p.Thr923Ile)
|
|
|
NM_000287.4(PEX6):c.276G>A (p.Val92=)
|
rs2150240428
|
|
NM_000287.4(PEX6):c.2773_2774delinsCT (p.Ala925Leu)
|
rs2114236221
|
|
NM_000287.4(PEX6):c.2778C>G (p.Leu926=)
|
|
|
NM_000287.4(PEX6):c.2778C>T (p.Leu926=)
|
|
|
NM_000287.4(PEX6):c.277CGGGCG[1] (p.93RA[1])
|
rs61753208
|
|
NM_000287.4(PEX6):c.2782C>T (p.Arg928Cys)
|
|
|
NM_000287.4(PEX6):c.2785A>G (p.Arg929Gly)
|
rs1232075600
|
|
NM_000287.4(PEX6):c.2790T>G (p.Val930=)
|
|
|
NM_000287.4(PEX6):c.2797C>T (p.Leu933=)
|
|
|
NM_000287.4(PEX6):c.279G>A (p.Arg93=)
|
rs2150240420
|
|
NM_000287.4(PEX6):c.2806+15G>C
|
|
|
NM_000287.4(PEX6):c.2806+6C>T
|
|
|
NM_000287.4(PEX6):c.2806+9C>A
|
rs2114236111
|
|
NM_000287.4(PEX6):c.2807-14C>T
|
|
|
NM_000287.4(PEX6):c.2807-15_2807-14delinsAT
|
rs2114235483
|
|
NM_000287.4(PEX6):c.2807-16A>G
|
|
|
NM_000287.4(PEX6):c.2807-17C>A
|
|
|
NM_000287.4(PEX6):c.2807-17C>G
|
|
|
NM_000287.4(PEX6):c.2807-19C>T
|
|
|
NM_000287.4(PEX6):c.2807-4C>G
|
rs2114235455
|
|
NM_000287.4(PEX6):c.2807-5T>G
|
|
|
NM_000287.4(PEX6):c.2807-8A>G
|
rs2114235473
|
|
NM_000287.4(PEX6):c.2809C>T (p.Leu937=)
|
|
|
NM_000287.4(PEX6):c.2811G>A (p.Leu937=)
|
|
|
NM_000287.4(PEX6):c.2811G>T (p.Leu937=)
|
rs1458911417
|
|
NM_000287.4(PEX6):c.2814_2816delinsACA (p.Pro939Gln)
|
|
|
NM_000287.4(PEX6):c.2814_2816delinsAGA (p.Pro939Glu)
|
|
|
NM_000287.4(PEX6):c.2816C>G (p.Pro939Arg)
|
rs1129187
|
|
NM_000287.4(PEX6):c.281C>A (p.Ala94Glu)
|
rs61752143
|
|
NM_000287.4(PEX6):c.2826A>G (p.Ser942=)
|
rs2114235359
|
|
NM_000287.4(PEX6):c.2829A>C (p.Ala943=)
|
|
|
NM_000287.4(PEX6):c.282G>A (p.Ala94=)
|
|
|
NM_000287.4(PEX6):c.2830C>A (p.Leu944Met)
|
rs2063704023
|
|
NM_000287.4(PEX6):c.2838C>T (p.Leu946=)
|
rs1561818692
|
|
NM_000287.4(PEX6):c.2842A>G (p.Met948Val)
|
|
|
NM_000287.4(PEX6):c.2845G>A (p.Glu949Lys)
|
|
|
NM_000287.4(PEX6):c.2847G>A (p.Glu949=)
|
|
|
NM_000287.4(PEX6):c.284G>A (p.Arg95Gln)
|
|
|
NM_000287.4(PEX6):c.284G>C (p.Arg95Pro)
|
rs2150240407
|
|
NM_000287.4(PEX6):c.2850C>G (p.Asp950Glu)
|
rs1251800022
|
|
NM_000287.4(PEX6):c.2850C>T (p.Asp950=)
|
rs1251800022
|
|
NM_000287.4(PEX6):c.2856G>A (p.Leu952=)
|
|
|
NM_000287.4(PEX6):c.2861C>T (p.Ala954Val)
|
|
|
NM_000287.4(PEX6):c.2862T>G (p.Ala954=)
|
|
|
NM_000287.4(PEX6):c.2865C>T (p.Ala955=)
|
rs1407928755
|
|
NM_000287.4(PEX6):c.2866G>T (p.Ala956Ser)
|
rs774145857
|
|
NM_000287.4(PEX6):c.286_289del (p.Ala96fs)
|
|
|
NM_000287.4(PEX6):c.2871G>A (p.Arg957=)
|
rs1370470867
|
|
NM_000287.4(PEX6):c.2873T>G (p.Leu958Arg)
|
rs2114235199
|
|
NM_000287.4(PEX6):c.2874G>C (p.Leu958=)
|
rs769653284
|
|
NM_000287.4(PEX6):c.2882C>T (p.Ser961Leu)
|
rs886043724
|
|
NM_000287.4(PEX6):c.2883A>G (p.Ser961=)
|
|
|
NM_000287.4(PEX6):c.288G>T (p.Ala96=)
|
rs554104839
|
|
NM_000287.4(PEX6):c.2892G>A (p.Glu964=)
|
rs1561818538
|
|
NM_000287.4(PEX6):c.2893C>G (p.Gln965Glu)
|
|
|
NM_000287.4(PEX6):c.2895G>A (p.Gln965=)
|
|
|
NM_000287.4(PEX6):c.2901G>A (p.Leu967=)
|
|
|
NM_000287.4(PEX6):c.2904C>T (p.Leu968=)
|
|
|
NM_000287.4(PEX6):c.2905C>T (p.Arg969Trp)
|
|
|
NM_000287.4(PEX6):c.2906G>T (p.Arg969Leu)
|
|
|
NM_000287.4(PEX6):c.2907G>A (p.Arg969=)
|
rs145243129
|
|
NM_000287.4(PEX6):c.2907G>C (p.Arg969=)
|
rs145243129
|
|
NM_000287.4(PEX6):c.2908T>C (p.Tyr970His)
|
|
|
NM_000287.4(PEX6):c.290T>G (p.Val97Gly)
|
|
|
NM_000287.4(PEX6):c.2910C>T (p.Tyr970=)
|
rs1448846802
|
|
NM_000287.4(PEX6):c.2913G>C (p.Lys971Asn)
|
|
|
NM_000287.4(PEX6):c.2915G>T (p.Arg972Leu)
|
rs751058292
|
|
NM_000287.4(PEX6):c.2921A>C (p.Gln974Pro)
|
rs1211978587
|
|
NM_000287.4(PEX6):c.2938T>A (p.Cys980Ser)
|
|
|
NM_000287.4(PEX6):c.2938T>G (p.Cys980Gly)
|
rs1427401725
|
|
NM_000287.4(PEX6):c.2943G>A (p.Ter981=)
|
rs747103168
|
|
NM_000287.4(PEX6):c.294G>A (p.Arg98=)
|
|
|
NM_000287.4(PEX6):c.295C>A (p.Arg99=)
|
rs772383329
|
|
NM_000287.4(PEX6):c.297G>A (p.Arg99=)
|
rs1217985540
|
|
NM_000287.4(PEX6):c.2T>C (p.Met1Thr)
|
rs1554128597
|
|
NM_000287.4(PEX6):c.2T>G (p.Met1Arg)
|
rs1554128597
|
|
NM_000287.4(PEX6):c.300C>G (p.Pro100=)
|
|
|
NM_000287.4(PEX6):c.300C>T (p.Pro100=)
|
rs1581779515
|
|
NM_000287.4(PEX6):c.302C>G (p.Pro101Arg)
|
rs774813175
|
|
NM_000287.4(PEX6):c.302C>T (p.Pro101Leu)
|
|
|
NM_000287.4(PEX6):c.306G>C (p.Ala102=)
|
rs727504083
|
|
NM_000287.4(PEX6):c.30G>A (p.Glu10=)
|
rs1372206461
|
|
NM_000287.4(PEX6):c.311del (p.Gly104fs)
|
rs61753209
|
|
NM_000287.4(PEX6):c.313T>C (p.Trp105Arg)
|
|
|
NM_000287.4(PEX6):c.315G>A (p.Trp105Ter)
|
|
|
NM_000287.4(PEX6):c.316G>A (p.Ala106Thr)
|
rs2150240338
|
|
NM_000287.4(PEX6):c.317C>T (p.Ala106Val)
|
|
|
NM_000287.4(PEX6):c.318A>C (p.Ala106=)
|
rs1581779470
|
|
NM_000287.4(PEX6):c.321G>A (p.Leu107=)
|
|
|
NM_000287.4(PEX6):c.32C>T (p.Pro11Leu)
|
rs2150240912
|
|
NM_000287.4(PEX6):c.330C>T (p.Thr110=)
|
|
|
NM_000287.4(PEX6):c.333G>C (p.Ser111=)
|
|
|
NM_000287.4(PEX6):c.334C>T (p.Leu112=)
|
rs756950827
|
|
NM_000287.4(PEX6):c.336G>A (p.Leu112=)
|
|
|
NM_000287.4(PEX6):c.336G>T (p.Leu112=)
|
rs1194598013
|
|
NM_000287.4(PEX6):c.337G>A (p.Gly113Arg)
|
|
|
NM_000287.4(PEX6):c.339G>T (p.Gly113=)
|
rs1770429617
|
|
NM_000287.4(PEX6):c.33C>T (p.Pro11=)
|
|
|
NM_000287.4(PEX6):c.346C>T (p.Leu116Phe)
|
rs1770429515
|
|
NM_000287.4(PEX6):c.352C>T (p.Pro118Ser)
|
|
|
NM_000287.4(PEX6):c.357A>T (p.Arg119=)
|
|
|
NM_000287.4(PEX6):c.35T>C (p.Phe12Ser)
|
rs61752139
|
|
NM_000287.4(PEX6):c.363G>A (p.Gly121=)
|
rs1282410534
|
|
NM_000287.4(PEX6):c.366G>C (p.Pro122=)
|
rs2150240248
|
|
NM_000287.4(PEX6):c.369G>A (p.Leu123=)
|
rs2150240235
|
|
NM_000287.4(PEX6):c.369G>C (p.Leu123=)
|
rs2150240235
|
|
NM_000287.4(PEX6):c.36T>C (p.Phe12=)
|
|
|
NM_000287.4(PEX6):c.370C>T (p.Leu124=)
|
rs2150240232
|
|
NM_000287.4(PEX6):c.372G>A (p.Leu124=)
|
|
|
NM_000287.4(PEX6):c.373G>T (p.Val125Leu)
|
rs1383547974
|
|
NM_000287.4(PEX6):c.375G>T (p.Val125=)
|
rs765259967
|
|
NM_000287.4(PEX6):c.37C>A (p.Pro13Thr)
|
|
|
NM_000287.4(PEX6):c.381C>G (p.Arg127=)
|
rs1377750772
|
|
NM_000287.4(PEX6):c.385_388del (p.Glu129fs)
|
rs1554128501
|
|
NM_000287.4(PEX6):c.392_395del (p.Leu131fs)
|
|
|
NM_000287.4(PEX6):c.393C>T (p.Leu131=)
|
|
|
NM_000287.4(PEX6):c.396A>C (p.Pro132=)
|
|
|
NM_000287.4(PEX6):c.399G>C (p.Val133=)
|
rs9462858
|
|
NM_000287.4(PEX6):c.39G>C (p.Pro13=)
|
|
|
NM_000287.4(PEX6):c.402del (p.Gly135fs)
|
|
|
NM_000287.4(PEX6):c.403G>A (p.Gly135Arg)
|
|
|
NM_000287.4(PEX6):c.403G>C (p.Gly135Arg)
|
|
|
NM_000287.4(PEX6):c.405A>G (p.Gly135=)
|
rs2150240134
|
|
NM_000287.4(PEX6):c.406delinsAT (p.Pro136fs)
|
rs1554128488
|
|
NM_000287.4(PEX6):c.410G>C (p.Arg137Pro)
|
rs1254025750
|
|
NM_000287.4(PEX6):c.411G>C (p.Arg137=)
|
|
|
NM_000287.4(PEX6):c.423G>C (p.Thr141=)
|
|
|
NM_000287.4(PEX6):c.424C>T (p.Arg142Trp)
|
|
|
NM_000287.4(PEX6):c.427_485del (p.Pro143fs)
|
|
|
NM_000287.4(PEX6):c.42C>A (p.Thr14=)
|
rs1375938727
|
|
NM_000287.4(PEX6):c.42C>T (p.Thr14=)
|
rs1375938727
|
|
NM_000287.4(PEX6):c.42_43dup (p.Glu15fs)
|
rs1554128586
|
|
NM_000287.4(PEX6):c.433T>C (p.Leu145=)
|
|
|
NM_000287.4(PEX6):c.441G>A (p.Gly147=)
|
rs1462833567
|
|
NM_000287.4(PEX6):c.444G>C (p.Leu148=)
|
rs1022934488
|
|
NM_000287.4(PEX6):c.444G>T (p.Leu148=)
|
rs1022934488
|
|
NM_000287.4(PEX6):c.445C>T (p.Leu149=)
|
rs2150240046
|
|
NM_000287.4(PEX6):c.446T>A (p.Leu149Gln)
|
rs1561830810
|
|
NM_000287.4(PEX6):c.44A>T (p.Glu15Val)
|
|
|
NM_000287.4(PEX6):c.453A>G (p.Pro151=)
|
|
|
NM_000287.4(PEX6):c.459T>C (p.Thr153=)
|
|
|
NM_000287.4(PEX6):c.462del (p.Leu155fs)
|
rs1554128476
|
|
NM_000287.4(PEX6):c.463C>T (p.Leu155=)
|
|
|
NM_000287.4(PEX6):c.465G>T (p.Leu155=)
|
|
|
NM_000287.4(PEX6):c.469G>A (p.Val157Met)
|
rs777547423
|
|
NM_000287.4(PEX6):c.473C>G (p.Thr158Ser)
|
|
|
NM_000287.4(PEX6):c.474T>G (p.Thr158=)
|
|
|
NM_000287.4(PEX6):c.475G>C (p.Glu159Gln)
|
rs991248029
|
|
NM_000287.4(PEX6):c.480C>T (p.Leu160=)
|
|
|
NM_000287.4(PEX6):c.481C>T (p.Arg161Cys)
|
|
|
NM_000287.4(PEX6):c.483C>A (p.Arg161=)
|
rs772034979
|
|
NM_000287.4(PEX6):c.485G>C (p.Gly162Ala)
|
|
|
NM_000287.4(PEX6):c.486G>A (p.Gly162=)
|
|
|
NM_000287.4(PEX6):c.490G>A (p.Ala164Thr)
|
|
|
NM_000287.4(PEX6):c.494G>A (p.Arg165Lys)
|
|
|
NM_000287.4(PEX6):c.496C>A (p.Leu166Met)
|
rs1770417803
|
|
NM_000287.4(PEX6):c.498G>C (p.Leu166=)
|
|
|
NM_000287.4(PEX6):c.49C>A (p.Pro17Thr)
|
rs918969564
|
|
NM_000287.4(PEX6):c.4G>A (p.Ala2Thr)
|
rs748585216
|
|
NM_000287.4(PEX6):c.503_504del (p.Pro168fs)
|
|
|
NM_000287.4(PEX6):c.506_507del (p.Glu169fs)
|
rs1554128461
|
|
NM_000287.4(PEX6):c.508T>C (p.Ser170Pro)
|
rs1233039273
|
|
NM_000287.4(PEX6):c.510dup (p.Gly171fs)
|
rs1491384052
|
|
NM_000287.4(PEX6):c.514del (p.Asp172fs)
|
|
|
NM_000287.4(PEX6):c.514dup (p.Asp172fs)
|
rs2150239907
|
|
NM_000287.4(PEX6):c.516C>T (p.Asp172=)
|
rs2150239905
|
|
NM_000287.4(PEX6):c.516CAG[1] (p.Ser174del)
|
rs1770416024
|
|
NM_000287.4(PEX6):c.517A>G (p.Ser173Gly)
|
|
|
NM_000287.4(PEX6):c.519C>T (p.Ser173=)
|
|
|
NM_000287.4(PEX6):c.524G>T (p.Arg175Leu)
|
|
|
NM_000287.4(PEX6):c.528C>T (p.Pro176=)
|
rs2150239878
|
|
NM_000287.4(PEX6):c.52C>T (p.Pro18Ser)
|
rs1770447100
|
|
NM_000287.4(PEX6):c.530del (p.Pro177fs)
|
|
|
NM_000287.4(PEX6):c.531del (p.Pro179fs)
|
rs2150239870
|
|
NM_000287.4(PEX6):c.532C>T (p.Pro178Ser)
|
rs1331493124
|
|
NM_000287.4(PEX6):c.534C>G (p.Pro178=)
|
rs899897123
|
|
NM_000287.4(PEX6):c.53C>T (p.Pro18Leu)
|
|
|
NM_000287.4(PEX6):c.540C>T (p.Pro180=)
|
|
|
NM_000287.4(PEX6):c.541G>A (p.Val181Met)
|
|
|
NM_000287.4(PEX6):c.541GTG[1] (p.Val182del)
|
rs1554128449
|
|
NM_000287.4(PEX6):c.544G>A (p.Val182Met)
|
|
|
NM_000287.4(PEX6):c.548CCT[1] (p.Ser184del)
|
rs1554128446
|
|
NM_000287.4(PEX6):c.549C>T (p.Ser183=)
|
rs2150239811
|
|
NM_000287.4(PEX6):c.552C>T (p.Ser184=)
|
|
|
NM_000287.4(PEX6):c.555T>C (p.Phe185=)
|
rs2150239797
|
|
NM_000287.4(PEX6):c.558G>C (p.Ala186=)
|
rs1443640798
|
|
NM_000287.4(PEX6):c.559G>A (p.Val187Ile)
|
rs2150239788
|
|
NM_000287.4(PEX6):c.55T>C (p.Leu19=)
|
|
|
NM_000287.4(PEX6):c.564T>G (p.Ser188=)
|
rs569094067
|
|
NM_000287.4(PEX6):c.568A>G (p.Thr190Ala)
|
|
|
NM_000287.4(PEX6):c.573G>A (p.Val191=)
|
rs2150239764
|
|
NM_000287.4(PEX6):c.573_882+237delinsTGGTCA
|
|
|
NM_000287.4(PEX6):c.586G>A (p.Gly196Arg)
|
rs1770412754
|
|
NM_000287.4(PEX6):c.586G>C (p.Gly196Arg)
|
rs1770412754
|
|
NM_000287.4(PEX6):c.588A>G (p.Gly196=)
|
rs1581778763
|
|
NM_000287.4(PEX6):c.592C>G (p.Leu198Val)
|
rs1770412382
|
|
NM_000287.4(PEX6):c.592C>T (p.Leu198=)
|
|
|
NM_000287.4(PEX6):c.594G>A (p.Leu198=)
|
|
|
NM_000287.4(PEX6):c.594G>T (p.Leu198=)
|
|
|
NM_000287.4(PEX6):c.599G>A (p.Gly200Glu)
|
|
|
NM_000287.4(PEX6):c.600G>T (p.Gly200=)
|
|
|
NM_000287.4(PEX6):c.600del (p.Thr201fs)
|
|
|
NM_000287.4(PEX6):c.603T>G (p.Thr201=)
|
|
|
NM_000287.4(PEX6):c.612A>C (p.Ser204=)
|
|
|
NM_000287.4(PEX6):c.612A>G (p.Ser204=)
|
rs886043877
|
|
NM_000287.4(PEX6):c.614T>A (p.Leu205Gln)
|
|
|
NM_000287.4(PEX6):c.614T>C (p.Leu205Pro)
|
rs1379179938
|
|
NM_000287.4(PEX6):c.618G>C (p.Gly206=)
|
rs200477648
|
|
NM_000287.4(PEX6):c.621_882+2del
|
rs1554128347
|
|
NM_000287.4(PEX6):c.624C>T (p.Ser208=)
|
rs768283442
|
|
NM_000287.4(PEX6):c.625C>A (p.Arg209=)
|
|
|
NM_000287.4(PEX6):c.630C>T (p.Ser210=)
|
|
|
NM_000287.4(PEX6):c.630del (p.Cys211fs)
|
rs2150239689
|
|
NM_000287.4(PEX6):c.636C>T (p.Leu212=)
|
|
|
NM_000287.4(PEX6):c.63G>T (p.Val21=)
|
rs2150240833
|
|
NM_000287.4(PEX6):c.643C>G (p.Leu215Val)
|
rs865933425
|
|
NM_000287.4(PEX6):c.645T>C (p.Leu215=)
|
rs2150239655
|
|
NM_000287.4(PEX6):c.654C>G (p.Phe218Leu)
|
rs886037779
|
|
NM_000287.4(PEX6):c.655C>T (p.Gln219Ter)
|
|
|
NM_000287.4(PEX6):c.655del (p.Gln219fs)
|
|
|
NM_000287.4(PEX6):c.656del (p.Gln219fs)
|
rs267608202
|
|
NM_000287.4(PEX6):c.658G>A (p.Gly220Ser)
|
|
|
NM_000287.4(PEX6):c.658G>C (p.Gly220Arg)
|
|
|
NM_000287.4(PEX6):c.659G>T (p.Gly220Val)
|
rs267608203
|
|
NM_000287.4(PEX6):c.660C>A (p.Gly220=)
|
|
|
NM_000287.4(PEX6):c.660C>T (p.Gly220=)
|
|
|
NM_000287.4(PEX6):c.667G>A (p.Val223Met)
|
|
|
NM_000287.4(PEX6):c.668dup (p.Trp224fs)
|
|
|
NM_000287.4(PEX6):c.669G>C (p.Val223=)
|
rs899965642
|
|
NM_000287.4(PEX6):c.669G>T (p.Val223=)
|
|
|
NM_000287.4(PEX6):c.671G>A (p.Trp224Ter)
|
|
|
NM_000287.4(PEX6):c.673G>A (p.Val225Met)
|
rs1770406575
|
|
NM_000287.4(PEX6):c.675G>C (p.Val225=)
|
rs2150239609
|
|
NM_000287.4(PEX6):c.677C>A (p.Ala226Asp)
|
rs2150239605
|
|
NM_000287.4(PEX6):c.678C>G (p.Ala226=)
|
|
|
NM_000287.4(PEX6):c.67C>G (p.Leu23Val)
|
|
|
NM_000287.4(PEX6):c.67C>T (p.Leu23=)
|
|
|
NM_000287.4(PEX6):c.681G>A (p.Gln227=)
|
rs1770406319
|
|
NM_000287.4(PEX6):c.683C>G (p.Ala228Gly)
|
|
|
NM_000287.4(PEX6):c.684C>G (p.Ala228=)
|
|
|
NM_000287.4(PEX6):c.687A>G (p.Arg229=)
|
|
|
NM_000287.4(PEX6):c.689_690del (p.Glu230fs)
|
rs398123305
|
|
NM_000287.4(PEX6):c.689_690dup (p.Ser232fs)
|
rs398123305
|
|
NM_000287.4(PEX6):c.692C>G (p.Ser231Ter)
|
|
|
NM_000287.4(PEX6):c.695C>T (p.Ser232Leu)
|
|
|
NM_000287.4(PEX6):c.696G>A (p.Ser232=)
|
rs2150239568
|
|
NM_000287.4(PEX6):c.697A>C (p.Asn233His)
|
|
|
NM_000287.4(PEX6):c.697A>G (p.Asn233Asp)
|
rs374452739
|
|
NM_000287.4(PEX6):c.698del (p.Asn233fs)
|
|
|
NM_000287.4(PEX6):c.69G>A (p.Leu23=)
|
|
|
NM_000287.4(PEX6):c.6G>A (p.Ala2=)
|
rs1406727123
|
|
NM_000287.4(PEX6):c.701C>G (p.Thr234Ser)
|
|
|
NM_000287.4(PEX6):c.701C>T (p.Thr234Ile)
|
|
|
NM_000287.4(PEX6):c.703T>C (p.Ser235Pro)
|
|
|
NM_000287.4(PEX6):c.706C>T (p.Gln236Ter)
|
rs779526175
|
|
NM_000287.4(PEX6):c.709C>T (p.Pro237Ser)
|
|
|
NM_000287.4(PEX6):c.711G>A (p.Pro237=)
|
|
|
NM_000287.4(PEX6):c.711G>T (p.Pro237=)
|
|
|
NM_000287.4(PEX6):c.714C>T (p.His238=)
|
|
|
NM_000287.4(PEX6):c.718G>A (p.Ala240Thr)
|
rs886061412
|
|
NM_000287.4(PEX6):c.720T>A (p.Ala240=)
|
|
|
NM_000287.4(PEX6):c.723G>A (p.Arg241=)
|
|
|
NM_000287.4(PEX6):c.724G>T (p.Val242Leu)
|
rs368915893
|
|
NM_000287.4(PEX6):c.727C>T (p.Gln243Ter)
|
rs61753215
|
|
NM_000287.4(PEX6):c.72A>C (p.Pro24=)
|
rs751357810
|
|
NM_000287.4(PEX6):c.72A>G (p.Pro24=)
|
rs751357810
|
|
NM_000287.4(PEX6):c.733C>T (p.Leu245=)
|
rs2150239501
|
|
NM_000287.4(PEX6):c.737A>T (p.Glu246Val)
|
rs1770401105
|
|
NM_000287.4(PEX6):c.738A>G (p.Glu246=)
|
|
|
NM_000287.4(PEX6):c.738_741del (p.Glu246fs)
|
rs2150239487
|
|
NM_000287.4(PEX6):c.740dup (p.Arg248fs)
|
|
|
NM_000287.4(PEX6):c.741T>G (p.Pro247=)
|
rs2150239485
|
|
NM_000287.4(PEX6):c.744C>T (p.Arg248=)
|
|
|
NM_000287.4(PEX6):c.746G>A (p.Trp249Ter)
|
|
|
NM_000287.4(PEX6):c.747G>A (p.Trp249Ter)
|
rs1770400284
|
|
NM_000287.4(PEX6):c.749A>G (p.Asp250Gly)
|
|
|
NM_000287.4(PEX6):c.750C>T (p.Asp250=)
|
rs2150239454
|
|
NM_000287.4(PEX6):c.751C>G (p.Leu251Val)
|
rs769332435
|
|
NM_000287.4(PEX6):c.751C>T (p.Leu251Phe)
|
|
|
NM_000287.4(PEX6):c.753C>A (p.Leu251=)
|
rs898341197
|
|
NM_000287.4(PEX6):c.754T>A (p.Ser252Thr)
|
|
|
NM_000287.4(PEX6):c.755_756del (p.Leu251_Ser252insTer)
|
|
|
NM_000287.4(PEX6):c.756T>C (p.Ser252=)
|
|
|
NM_000287.4(PEX6):c.763C>T (p.Leu255=)
|
|
|
NM_000287.4(PEX6):c.76G>C (p.Gly26Arg)
|
rs1268867658
|
|
NM_000287.4(PEX6):c.770C>A (p.Pro257His)
|
|
|
NM_000287.4(PEX6):c.771C>A (p.Pro257=)
|
|
|
NM_000287.4(PEX6):c.774C>T (p.Gly258=)
|
|
|
NM_000287.4(PEX6):c.776C>T (p.Ser259Phe)
|
rs201329563
|
|
NM_000287.4(PEX6):c.780_782dup (p.Pro261dup)
|
rs1770395486
|
|
NM_000287.4(PEX6):c.783G>A (p.Pro261=)
|
rs765629238
|
|
NM_000287.4(PEX6):c.784C>T (p.Leu262=)
|
rs2150239392
|
|
NM_000287.4(PEX6):c.78_79delinsAA (p.Gly27Ser)
|
|
|
NM_000287.4(PEX6):c.792G>A (p.Glu264=)
|
|
|
NM_000287.4(PEX6):c.795C>A (p.Pro265=)
|
|
|
NM_000287.4(PEX6):c.795C>T (p.Pro265=)
|
|
|
NM_000287.4(PEX6):c.798C>T (p.Leu266=)
|
rs199536286
|
|
NM_000287.4(PEX6):c.801T>A (p.Ala267=)
|
rs2150239377
|
|
NM_000287.4(PEX6):c.802_815del (p.Asp268fs)
|
rs63749004
|
|
NM_000287.4(PEX6):c.80G>C (p.Gly27Ala)
|
rs983060034
|
|
NM_000287.4(PEX6):c.812C>T (p.Ala271Val)
|
|
|
NM_000287.4(PEX6):c.813G>A (p.Ala271=)
|
rs35503676
|
|
NM_000287.4(PEX6):c.813G>C (p.Ala271=)
|
rs35503676
|
|
NM_000287.4(PEX6):c.814_817dup (p.Val273fs)
|
rs367543282
|
|
NM_000287.4(PEX6):c.817G>C (p.Val273Leu)
|
rs1770393206
|
|
NM_000287.4(PEX6):c.819C>G (p.Val273=)
|
rs748814053
|
|
NM_000287.4(PEX6):c.819C>T (p.Val273=)
|
rs748814053
|
|
NM_000287.4(PEX6):c.822T>G (p.Pro274=)
|
rs2150239341
|
|
NM_000287.4(PEX6):c.824C>G (p.Ala275Gly)
|
|
|
NM_000287.4(PEX6):c.825C>A (p.Ala275=)
|
rs1581778079
|
|
NM_000287.4(PEX6):c.828T>C (p.Thr276=)
|
|
|
NM_000287.4(PEX6):c.829T>A (p.Leu277Met)
|
rs1198487899
|
|
NM_000287.4(PEX6):c.829T>C (p.Leu277=)
|
rs1198487899
|
|
NM_000287.4(PEX6):c.831_834del (p.Leu277fs)
|
|
|
NM_000287.4(PEX6):c.839A>G (p.Asn280Ser)
|
|
|
NM_000287.4(PEX6):c.83C>G (p.Pro28Arg)
|
|
|
NM_000287.4(PEX6):c.846C>T (p.Gly282=)
|
rs1219108908
|
|
NM_000287.4(PEX6):c.853C>A (p.Pro285Thr)
|
rs61753220
|
|
NM_000287.4(PEX6):c.855C>A (p.Pro285=)
|
rs757897959
|
|
NM_000287.4(PEX6):c.855C>G (p.Pro285=)
|
|
|
NM_000287.4(PEX6):c.855C>T (p.Pro285=)
|
rs757897959
|
|
NM_000287.4(PEX6):c.856C>G (p.Leu286Val)
|
rs2150239282
|
|
NM_000287.4(PEX6):c.856del (p.Leu286fs)
|
rs267608205
|
|
NM_000287.4(PEX6):c.866G>A (p.Gly289Glu)
|
|
|
NM_000287.4(PEX6):c.867A>G (p.Gly289=)
|
|
|
NM_000287.4(PEX6):c.872_873del (p.Leu291fs)
|
|
|
NM_000287.4(PEX6):c.873C>T (p.Leu291=)
|
rs754432833
|
|
NM_000287.4(PEX6):c.87G>A (p.Trp29Ter)
|
|
|
NM_000287.4(PEX6):c.882+14C>G
|
rs2150239216
|
|
NM_000287.4(PEX6):c.882+15T>A
|
|
|
NM_000287.4(PEX6):c.882+15del
|
|
|
NM_000287.4(PEX6):c.882+15dup
|
rs2150239214
|
|
NM_000287.4(PEX6):c.882+16G>A
|
|
|
NM_000287.4(PEX6):c.882+17G>A
|
rs1770387850
|
|
NM_000287.4(PEX6):c.882+18G>A
|
|
|
NM_000287.4(PEX6):c.882+18G>T
|
|
|
NM_000287.4(PEX6):c.882+1G>A
|
rs267608207
|
|
NM_000287.4(PEX6):c.882+4G>A
|
rs756846884
|
|
NM_000287.4(PEX6):c.882+5G>A
|
rs1770388962
|
|
NM_000287.4(PEX6):c.883-13A>G
|
|
|
NM_000287.4(PEX6):c.883-14T>G
|
|
|
NM_000287.4(PEX6):c.883-15T>C
|
|
|
NM_000287.4(PEX6):c.883-16G>A
|
|
|
NM_000287.4(PEX6):c.883-16G>T
|
|
|
NM_000287.4(PEX6):c.883-19G>A
|
|
|
NM_000287.4(PEX6):c.883-19G>C
|
|
|
NM_000287.4(PEX6):c.883-19G>T
|
|
|
NM_000287.4(PEX6):c.883-2A>G
|
|
|
NM_000287.4(PEX6):c.883-5A>G
|
rs1770231417
|
|
NM_000287.4(PEX6):c.883-6T>C
|
rs2150236212
|
|
NM_000287.4(PEX6):c.883-6_887del
|
|
|
NM_000287.4(PEX6):c.885G>A (p.Arg295=)
|
|
|
NM_000287.4(PEX6):c.888C>T (p.Tyr296=)
|
|
|
NM_000287.4(PEX6):c.890T>A (p.Leu297Ter)
|
|
|
NM_000287.4(PEX6):c.891G>A (p.Leu297=)
|
rs370656546
|
|
NM_000287.4(PEX6):c.896G>A (p.Gly299Asp)
|
rs548459114
|
|
NM_000287.4(PEX6):c.896del (p.Gly299fs)
|
|
|
NM_000287.4(PEX6):c.899C>T (p.Ser300Phe)
|
|
|
NM_000287.4(PEX6):c.906C>T (p.Ala302=)
|
rs1770229856
|
|
NM_000287.4(PEX6):c.909del (p.Glu304fs)
|
|
|
NM_000287.4(PEX6):c.912A>G (p.Glu304=)
|
rs2150236157
|
|
NM_000287.4(PEX6):c.914_923del (p.Asp305fs)
|
rs1364614470
|
|
NM_000287.4(PEX6):c.915C>G (p.Asp305Glu)
|
|
|
NM_000287.4(PEX6):c.916_919del (p.Lys306fs)
|
rs2150236148
|
|
NM_000287.4(PEX6):c.921A>C (p.Gly307=)
|
rs1770229227
|
|
NM_000287.4(PEX6):c.924C>T (p.Ser308=)
|
|
|
NM_000287.4(PEX6):c.927C>T (p.Cys309=)
|
rs1770228479
|
|
NM_000287.4(PEX6):c.929C>T (p.Ser310Leu)
|
rs2150236110
|
|
NM_000287.4(PEX6):c.933G>A (p.Leu311=)
|
rs749452099
|
|
NM_000287.4(PEX6):c.936G>C (p.Leu312=)
|
|
|
NM_000287.4(PEX6):c.937C>T (p.Pro313Ser)
|
|
|
NM_000287.4(PEX6):c.941G>T (p.Gly314Val)
|
rs746415021
|
|
NM_000287.4(PEX6):c.945T>C (p.Pro315=)
|
rs2150236089
|
|
NM_000287.4(PEX6):c.948A>T (p.Pro316=)
|
rs781704566
|
|
NM_000287.4(PEX6):c.953C>G (p.Ala318Gly)
|
rs200600289
|
|
NM_000287.4(PEX6):c.954del (p.Arg319fs)
|
|
|
NM_000287.4(PEX6):c.955A>C (p.Arg319=)
|
rs2150236072
|
|
NM_000287.4(PEX6):c.957A>G (p.Arg319=)
|
|
|
NM_000287.4(PEX6):c.959_960del (p.Glu320fs)
|
|
|
NM_000287.4(PEX6):c.966C>T (p.His322=)
|
rs752190220
|
|
NM_000287.4(PEX6):c.967A>G (p.Ile323Val)
|
|
|
NM_000287.4(PEX6):c.969C>T (p.Ile323=)
|
rs143001881
|
|
NM_000287.4(PEX6):c.96G>A (p.Ala32=)
|
rs1409096419
|
|
NM_000287.4(PEX6):c.975T>C (p.Ile325=)
|
rs2150236042
|
|
NM_000287.4(PEX6):c.988C>T (p.His330Tyr)
|
rs1561827871
|
|
NM_000287.4(PEX6):c.993C>A (p.Tyr331Ter)
|
|
|
NM_000287.4(PEX6):c.993C>T (p.Tyr331=)
|
rs896144215
|
|
NM_000287.4(PEX6):c.994A>G (p.Ser332Gly)
|
|
|
NM_000287.4(PEX6):c.998C>G (p.Thr333Ser)
|
|
|
NM_000287.4(PEX6):c.999T>C (p.Thr333=)
|
rs2150236010
|
|