NM_000318.3(PEX2):c.550T>C (p.Cys184Arg)
|
rs10087163
|
0.98578
|
NM_000318.3(PEX2):c.*1194A>G
|
rs4311633
|
0.98172
|
NM_000318.3(PEX2):c.*2377A>G
|
rs4388434
|
0.94963
|
NM_000318.3(PEX2):c.*727T>C
|
rs4610720
|
0.94956
|
NM_000318.3(PEX2):c.*2663T>A
|
rs28435921
|
0.50526
|
NM_000318.3(PEX2):c.-164C>A
|
rs12718
|
0.21609
|
NM_000318.3(PEX2):c.*1141G>A
|
rs10108054
|
0.03721
|
NM_000318.3(PEX2):c.*1909G>T
|
rs112352942
|
0.03714
|
NM_000318.3(PEX2):c.*2446C>T
|
rs73242165
|
0.03710
|
NM_000318.3(PEX2):c.24G>A (p.Ala8=)
|
rs9298285
|
0.03660
|
NM_000318.3(PEX2):c.*2338C>T
|
rs56231626
|
0.03506
|
NM_000318.3(PEX2):c.*2142A>G
|
rs79700176
|
0.03415
|
NM_000318.3(PEX2):c.*1696C>T
|
rs112199677
|
0.03286
|
NM_000318.3(PEX2):c.733G>A (p.Ala245Thr)
|
rs112108739
|
0.02536
|
NM_000318.3(PEX2):c.*458G>A
|
rs143201132
|
0.02392
|
NM_000318.3(PEX2):c.550= (p.Cys184=)
|
rs10087163
|
0.01422
|
NM_000318.3(PEX2):c.*1601T>A
|
rs116949534
|
0.01081
|
NM_000318.3(PEX2):c.*1242A>G
|
rs73691481
|
0.01024
|
NM_000318.3(PEX2):c.*2306A>G
|
rs59296540
|
0.01019
|
NM_000318.3(PEX2):c.*2554G>A
|
rs116215385
|
0.01018
|
NM_000318.3(PEX2):c.*319A>G
|
rs78045204
|
0.00610
|
NM_000318.3(PEX2):c.748T>C (p.Trp250Arg)
|
rs142645936
|
0.00585
|
NM_000318.3(PEX2):c.*1842G>C
|
rs184573256
|
0.00523
|
NM_000318.3(PEX2):c.*1040C>G
|
rs139337482
|
0.00490
|
NM_000318.3(PEX2):c.*2443A>G
|
rs76770837
|
0.00372
|
NM_000318.3(PEX2):c.*789C>T
|
rs144050052
|
0.00361
|
NM_000318.3(PEX2):c.*1174A>G
|
rs562263817
|
0.00343
|
NM_000318.3(PEX2):c.*1448C>T
|
rs184740361
|
0.00303
|
NM_000318.3(PEX2):c.*1012C>T
|
rs181539288
|
0.00300
|
NM_000318.3(PEX2):c.*2894T>C
|
rs569387185
|
0.00257
|
NM_000318.3(PEX2):c.209A>G (p.Tyr70Cys)
|
rs35689779
|
0.00239
|
NM_000318.3(PEX2):c.91C>G (p.Gln31Glu)
|
rs149287302
|
0.00190
|
NM_000318.3(PEX2):c.477G>A (p.Gln159=)
|
rs35218706
|
0.00178
|
NM_000318.3(PEX2):c.*659C>G
|
rs551943990
|
0.00148
|
NM_000318.3(PEX2):c.*1716A>G
|
rs192555214
|
0.00107
|
NM_000318.3(PEX2):c.-183G>T
|
rs568404564
|
0.00106
|
NM_000318.3(PEX2):c.722G>T (p.Gly241Val)
|
rs150734057
|
0.00067
|
NM_000318.3(PEX2):c.269C>T (p.Ser90Phe)
|
rs146354196
|
0.00064
|
NM_000318.3(PEX2):c.*1765G>A
|
rs60300869
|
0.00063
|
NM_000318.3(PEX2):c.237A>G (p.Ser79=)
|
rs138220337
|
0.00063
|
NM_000318.3(PEX2):c.*2057G>A
|
rs568202276
|
0.00052
|
NM_000318.3(PEX2):c.*2004C>T
|
rs117344716
|
0.00048
|
NM_000318.3(PEX2):c.*233C>G
|
rs190595998
|
0.00046
|
NM_000318.3(PEX2):c.282A>T (p.Arg94Ser)
|
rs140963177
|
0.00046
|
NM_000318.3(PEX2):c.322G>C (p.Val108Leu)
|
rs148101729
|
0.00043
|
NM_000318.3(PEX2):c.*1858G>A
|
rs777834563
|
0.00031
|
NM_000318.3(PEX2):c.304C>A (p.Gln102Lys)
|
rs200065382
|
0.00030
|
NM_000318.3(PEX2):c.*1749A>T
|
rs556984036
|
0.00029
|
NM_000318.3(PEX2):c.447T>G (p.Gly149=)
|
rs375401977
|
0.00027
|
NM_000318.3(PEX2):c.698G>A (p.Ser233Asn)
|
rs200868032
|
0.00022
|
NM_000318.3(PEX2):c.*1400A>G
|
rs1002618013
|
0.00016
|
NM_000318.3(PEX2):c.*2518C>T
|
rs886063124
|
0.00016
|
NM_000318.3(PEX2):c.*1854A>C
|
rs886063127
|
0.00014
|
NM_000318.3(PEX2):c.*595C>T
|
rs754113775
|
0.00013
|
NM_000318.3(PEX2):c.*2519G>A
|
rs1005895700
|
0.00012
|
NM_000318.3(PEX2):c.*596G>A
|
rs139852334
|
0.00012
|
NM_000318.3(PEX2):c.*40G>A
|
rs148915806
|
0.00011
|
NM_000318.3(PEX2):c.152G>A (p.Arg51His)
|
rs549242503
|
0.00010
|
NM_000318.3(PEX2):c.*1755A>G
|
rs886063129
|
0.00009
|
NM_000318.3(PEX2):c.*2973T>C
|
rs751974703
|
0.00009
|
NM_000318.3(PEX2):c.*627G>T
|
rs145960090
|
0.00008
|
NM_000318.3(PEX2):c.288G>A (p.Gln96=)
|
rs370236723
|
0.00008
|
NM_000318.3(PEX2):c.570C>T (p.Tyr190=)
|
rs769765158
|
0.00008
|
NM_000318.3(PEX2):c.769A>G (p.Ile257Val)
|
rs199874465
|
0.00007
|
NM_000318.3(PEX2):c.*1370A>G
|
rs886063131
|
0.00006
|
NM_000318.3(PEX2):c.*1561G>A
|
rs886063130
|
0.00006
|
NM_000318.3(PEX2):c.*489C>T
|
rs886063136
|
0.00006
|
NM_000318.3(PEX2):c.355C>T (p.Arg119Ter)
|
rs61752123
|
0.00006
|
NM_000318.3(PEX2):c.738A>G (p.Leu246=)
|
rs376101275
|
0.00006
|
NM_000318.3(PEX2):c.*705T>A
|
rs569163196
|
0.00005
|
NM_000318.3(PEX2):c.642G>A (p.Gln214=)
|
rs1201496727
|
0.00005
|
NM_000318.3(PEX2):c.798C>T (p.Phe266=)
|
rs143661965
|
0.00005
|
NM_000318.3(PEX2):c.*1331T>C
|
rs950900674
|
0.00004
|
NM_000318.3(PEX2):c.*1602A>G
|
rs557330187
|
0.00004
|
NM_000318.3(PEX2):c.*1808C>A
|
rs980881594
|
0.00004
|
NM_000318.3(PEX2):c.*2294C>G
|
rs763651452
|
0.00004
|
NM_000318.3(PEX2):c.*394T>C
|
rs1010520129
|
0.00004
|
NM_000318.3(PEX2):c.139G>A (p.Gly47Arg)
|
rs138590115
|
0.00004
|
NM_000318.3(PEX2):c.140G>C (p.Gly47Ala)
|
rs750212948
|
0.00004
|
NM_000318.3(PEX2):c.222C>T (p.Ala74=)
|
rs370886270
|
0.00004
|
NM_000318.3(PEX2):c.404T>C (p.Val135Ala)
|
rs549932565
|
0.00004
|
NM_000318.3(PEX2):c.621C>G (p.Leu207=)
|
rs1364915907
|
0.00004
|
NM_000318.3(PEX2):c.705T>A (p.Asn235Lys)
|
rs747222660
|
0.00004
|
NM_000318.3(PEX2):c.826G>C (p.Val276Leu)
|
rs746008519
|
0.00004
|
NM_000318.3(PEX2):c.*1047T>A
|
rs886063133
|
0.00003
|
NM_000318.3(PEX2):c.*2920_*2922del
|
rs746335104
|
0.00003
|
NM_000318.3(PEX2):c.*437T>C
|
rs1210536989
|
0.00003
|
NM_000318.3(PEX2):c.151C>T (p.Arg51Cys)
|
rs147209403
|
0.00003
|
NM_000318.3(PEX2):c.374G>A (p.Arg125Gln)
|
rs199845625
|
0.00003
|
NM_000318.3(PEX2):c.551G>A (p.Cys184Tyr)
|
rs1266603500
|
0.00003
|
NM_000318.3(PEX2):c.716C>T (p.Thr239Ile)
|
rs1264938864
|
0.00003
|
NM_000318.3(PEX2):c.174G>A (p.Ala58=)
|
rs150987080
|
0.00002
|
NM_000318.3(PEX2):c.181T>C (p.Trp61Arg)
|
rs772704218
|
0.00002
|
NM_000318.3(PEX2):c.257A>C (p.Lys86Thr)
|
rs754127143
|
0.00002
|
NM_000318.3(PEX2):c.659T>G (p.Leu220Arg)
|
rs773085309
|
0.00002
|
NM_000318.3(PEX2):c.732C>T (p.Cys244=)
|
rs142121434
|
0.00002
|
NM_000318.3(PEX2):c.795T>C (p.Tyr265=)
|
rs764785488
|
0.00002
|
NM_000318.3(PEX2):c.892G>A (p.Glu298Lys)
|
rs544763390
|
0.00002
|
NM_000318.3(PEX2):c.*1581T>A
|
rs1214852177
|
0.00001
|
NM_000318.3(PEX2):c.*2456C>T
|
rs1461205423
|
0.00001
|
NM_000318.3(PEX2):c.*2787G>A
|
rs886063123
|
0.00001
|
NM_000318.3(PEX2):c.*324G>T
|
rs886063137
|
0.00001
|
NM_000318.3(PEX2):c.*498G>A
|
rs541772029
|
0.00001
|
NM_000318.3(PEX2):c.*773T>G
|
rs927177664
|
0.00001
|
NM_000318.3(PEX2):c.*91A>G
|
rs886063139
|
0.00001
|
NM_000318.3(PEX2):c.-17-2A>G
|
rs1289852067
|
0.00001
|
NM_000318.3(PEX2):c.-178C>T
|
rs886063141
|
0.00001
|
NM_000318.3(PEX2):c.105C>T (p.Ser35=)
|
rs1424842404
|
0.00001
|
NM_000318.3(PEX2):c.112A>G (p.Thr38Ala)
|
rs935435870
|
0.00001
|
NM_000318.3(PEX2):c.129A>G (p.Gly43=)
|
rs779946897
|
0.00001
|
NM_000318.3(PEX2):c.157G>T (p.Glu53Ter)
|
rs1224562361
|
0.00001
|
NM_000318.3(PEX2):c.173C>T (p.Ala58Val)
|
rs760636932
|
0.00001
|
NM_000318.3(PEX2):c.195G>T (p.Trp65Cys)
|
rs771377186
|
0.00001
|
NM_000318.3(PEX2):c.205A>G (p.Ile69Val)
|
rs747866716
|
0.00001
|
NM_000318.3(PEX2):c.206T>C (p.Ile69Thr)
|
rs1180720095
|
0.00001
|
NM_000318.3(PEX2):c.226G>T (p.Val76Leu)
|
rs1429397131
|
0.00001
|
NM_000318.3(PEX2):c.23C>T (p.Ala8Val)
|
rs148428490
|
0.00001
|
NM_000318.3(PEX2):c.252G>A (p.Lys84=)
|
rs1294597760
|
0.00001
|
NM_000318.3(PEX2):c.312C>G (p.Ile104Met)
|
rs1242924229
|
0.00001
|
NM_000318.3(PEX2):c.327T>C (p.Cys109=)
|
rs746604322
|
0.00001
|
NM_000318.3(PEX2):c.331A>G (p.Ile111Val)
|
rs774994658
|
0.00001
|
NM_000318.3(PEX2):c.335G>C (p.Gly112Ala)
|
rs745832638
|
0.00001
|
NM_000318.3(PEX2):c.348A>G (p.Leu116=)
|
rs777560932
|
0.00001
|
NM_000318.3(PEX2):c.373C>T (p.Arg125Ter)
|
rs61752124
|
0.00001
|
NM_000318.3(PEX2):c.456T>G (p.Ile152Met)
|
rs1475014070
|
0.00001
|
NM_000318.3(PEX2):c.45A>G (p.Leu15=)
|
rs761947470
|
0.00001
|
NM_000318.3(PEX2):c.461T>C (p.Phe154Ser)
|
rs755169713
|
0.00001
|
NM_000318.3(PEX2):c.466A>G (p.Ile156Val)
|
rs148972539
|
0.00001
|
NM_000318.3(PEX2):c.481G>A (p.Gly161Arg)
|
rs377669414
|
0.00001
|
NM_000318.3(PEX2):c.482G>A (p.Gly161Glu)
|
rs761177481
|
0.00001
|
NM_000318.3(PEX2):c.517A>G (p.Ile173Val)
|
rs773748299
|
0.00001
|
NM_000318.3(PEX2):c.524C>G (p.Ser175Cys)
|
rs770427885
|
0.00001
|
NM_000318.3(PEX2):c.577A>G (p.Arg193Gly)
|
rs1806905614
|
0.00001
|
NM_000318.3(PEX2):c.579G>A (p.Arg193=)
|
rs1395525519
|
0.00001
|
NM_000318.3(PEX2):c.606A>G (p.Glu202=)
|
rs376974246
|
0.00001
|
NM_000318.3(PEX2):c.635A>G (p.Asn212Ser)
|
rs764386648
|
0.00001
|
NM_000318.3(PEX2):c.666A>G (p.Ser222=)
|
rs1806901488
|
0.00001
|
NM_000318.3(PEX2):c.66A>C (p.Ala22=)
|
rs572094828
|
0.00001
|
NM_000318.3(PEX2):c.703A>G (p.Asn235Asp)
|
rs1345316527
|
0.00001
|
NM_000318.3(PEX2):c.714C>T (p.Ala238=)
|
rs1432397833
|
0.00001
|
NM_000318.3(PEX2):c.729A>G (p.Glu243=)
|
rs931982876
|
0.00001
|
NM_000318.3(PEX2):c.742G>A (p.Gly248Arg)
|
rs1277419329
|
0.00001
|
NM_000318.3(PEX2):c.768C>T (p.Thr256=)
|
rs1806896232
|
0.00001
|
NM_000318.3(PEX2):c.76A>G (p.Asn26Asp)
|
rs977528373
|
0.00001
|
NM_000318.3(PEX2):c.782A>G (p.His261Arg)
|
rs749956542
|
0.00001
|
NM_000318.3(PEX2):c.869T>G (p.Leu290Arg)
|
rs756496949
|
0.00001
|
NM_000318.3(PEX2):c.882A>G (p.Lys294=)
|
rs1244697838
|
0.00001
|
NM_000318.3(PEX2):c.891C>T (p.Ile297=)
|
rs995695713
|
0.00001
|
NM_000318.3(PEX2):c.916T>C (p.Ter306Gln)
|
rs1554584372
|
0.00001
|
NC_000008.10:g.(?_77892493)_(77912525_?)del
|
|
|
NC_000008.10:g.(?_77895497)_(77896414_?)del
|
|
|
NC_000008.10:g.(?_77895497)_(77896414_?)dup
|
|
|
NM_000318.3(PEX2):c.*103C>G
|
rs529963492
|
|
NM_000318.3(PEX2):c.*1085T>A
|
rs886063132
|
|
NM_000318.3(PEX2):c.*1319A>T
|
rs912151931
|
|
NM_000318.3(PEX2):c.*1466ATT[1]
|
rs552746754
|
|
NM_000318.3(PEX2):c.*1606T>G
|
rs1276104967
|
|
NM_000318.3(PEX2):c.*1811C>T
|
rs886063128
|
|
NM_000318.3(PEX2):c.*2007A>T
|
rs558850392
|
|
NM_000318.3(PEX2):c.*2404A>G
|
rs1806798109
|
|
NM_000318.3(PEX2):c.*2430T>C
|
rs886063126
|
|
NM_000318.3(PEX2):c.*2466A>G
|
rs886063125
|
|
NM_000318.3(PEX2):c.*2700G>T
|
rs1806788065
|
|
NM_000318.3(PEX2):c.*277_*279del
|
rs886063138
|
|
NM_000318.3(PEX2):c.*37C>T
|
rs886063140
|
|
NM_000318.3(PEX2):c.*419T>G
|
rs1806878211
|
|
NM_000318.3(PEX2):c.*645G>T
|
rs1806867628
|
|
NM_000318.3(PEX2):c.*780T>A
|
rs1806859817
|
|
NM_000318.3(PEX2):c.*819A>C
|
rs886063135
|
|
NM_000318.3(PEX2):c.*913C>T
|
rs886063134
|
|
NM_000318.3(PEX2):c.-13del
|
rs146402705
|
|
NM_000318.3(PEX2):c.-17-41G>T
|
rs10957830
|
|
NM_000318.3(PEX2):c.101G>C (p.Trp34Ser)
|
|
|
NM_000318.3(PEX2):c.108G>A (p.Gln36=)
|
rs113065004
|
|
NM_000318.3(PEX2):c.109T>A (p.Phe37Ile)
|
|
|
NM_000318.3(PEX2):c.10A>T (p.Arg4Ter)
|
rs1297517393
|
|
NM_000318.3(PEX2):c.111T>C (p.Phe37=)
|
|
|
NM_000318.3(PEX2):c.113del (p.Thr38fs)
|
|
|
NM_000318.3(PEX2):c.114T>G (p.Thr38=)
|
rs2132044827
|
|
NM_000318.3(PEX2):c.115C>T (p.Gln39Ter)
|
rs61752118
|
|
NM_000318.3(PEX2):c.116A>G (p.Gln39Arg)
|
rs1427212561
|
|
NM_000318.3(PEX2):c.118del (p.Cys40fs)
|
|
|
NM_000318.3(PEX2):c.120C>T (p.Cys40=)
|
rs1586070272
|
|
NM_000318.3(PEX2):c.122T>A (p.Phe41Tyr)
|
|
|
NM_000318.3(PEX2):c.123T>A (p.Phe41Leu)
|
rs2132044807
|
|
NM_000318.3(PEX2):c.123T>C (p.Phe41=)
|
|
|
NM_000318.3(PEX2):c.126T>C (p.His42=)
|
|
|
NM_000318.3(PEX2):c.12A>G (p.Arg4=)
|
|
|
NM_000318.3(PEX2):c.140G>A (p.Gly47Glu)
|
|
|
NM_000318.3(PEX2):c.142C>G (p.Leu48Val)
|
|
|
NM_000318.3(PEX2):c.142C>T (p.Leu48=)
|
|
|
NM_000318.3(PEX2):c.143T>C (p.Leu48Pro)
|
|
|
NM_000318.3(PEX2):c.144G>T (p.Leu48=)
|
|
|
NM_000318.3(PEX2):c.146del (p.Leu48_Leu49insTer)
|
rs2132044757
|
|
NM_000318.3(PEX2):c.147A>G (p.Leu49=)
|
rs1257241388
|
|
NM_000318.3(PEX2):c.148G>T (p.Ala50Ser)
|
|
|
NM_000318.3(PEX2):c.152G>T (p.Arg51Leu)
|
rs549242503
|
|
NM_000318.3(PEX2):c.159_160delinsAT (p.Pro54Ser)
|
|
|
NM_000318.3(PEX2):c.15A>G (p.Lys5=)
|
rs2132045059
|
|
NM_000318.3(PEX2):c.15dup (p.Glu6fs)
|
|
|
NM_000318.3(PEX2):c.162A>C (p.Pro54=)
|
rs2132044722
|
|
NM_000318.3(PEX2):c.162A>G (p.Pro54=)
|
rs2132044722
|
|
NM_000318.3(PEX2):c.163G>A (p.Glu55Lys)
|
rs61752119
|
|
NM_000318.3(PEX2):c.166G>A (p.Val56Met)
|
rs2132044712
|
|
NM_000318.3(PEX2):c.16G>C (p.Glu6Gln)
|
|
|
NM_000318.3(PEX2):c.171A>G (p.Lys57=)
|
rs2132044697
|
|
NM_000318.3(PEX2):c.174G>C (p.Ala58=)
|
rs150987080
|
|
NM_000318.3(PEX2):c.183G>A (p.Trp61Ter)
|
|
|
NM_000318.3(PEX2):c.188dup (p.Trp65fs)
|
|
|
NM_000318.3(PEX2):c.18G>A (p.Glu6=)
|
rs2132045054
|
|
NM_000318.3(PEX2):c.190T>A (p.Leu64Met)
|
|
|
NM_000318.3(PEX2):c.190T>C (p.Leu64=)
|
|
|
NM_000318.3(PEX2):c.192G>A (p.Leu64=)
|
|
|
NM_000318.3(PEX2):c.197_198del (p.Arg66fs)
|
|
|
NM_000318.3(PEX2):c.198A>G (p.Arg66=)
|
rs2132044639
|
|
NM_000318.3(PEX2):c.19A>C (p.Asn7His)
|
rs576066189
|
|
NM_000318.3(PEX2):c.201C>T (p.Phe67=)
|
|
|
NM_000318.3(PEX2):c.207C>A (p.Ile69=)
|
|
|
NM_000318.3(PEX2):c.218del (p.Asn73fs)
|
rs1586070089
|
|
NM_000318.3(PEX2):c.21T>C (p.Asn7=)
|
|
|
NM_000318.3(PEX2):c.220dup (p.Ala74fs)
|
rs777974798
|
|
NM_000318.3(PEX2):c.221C>G (p.Ala74Gly)
|
rs1305420150
|
|
NM_000318.3(PEX2):c.221C>T (p.Ala74Val)
|
|
|
NM_000318.3(PEX2):c.22G>T (p.Ala8Ser)
|
rs2132045041
|
|
NM_000318.3(PEX2):c.231A>G (p.Gly77=)
|
|
|
NM_000318.3(PEX2):c.232C>T (p.Gln78Ter)
|
rs1586070043
|
|
NM_000318.3(PEX2):c.233dup (p.Ser79fs)
|
|
|
NM_000318.3(PEX2):c.234G>A (p.Gln78=)
|
|
|
NM_000318.3(PEX2):c.238G>A (p.Val80Ile)
|
|
|
NM_000318.3(PEX2):c.247A>G (p.Ile83Val)
|
|
|
NM_000318.3(PEX2):c.248T>C (p.Ile83Thr)
|
rs1806923661
|
|
NM_000318.3(PEX2):c.24G>T (p.Ala8=)
|
|
|
NM_000318.3(PEX2):c.24_25del (p.Lys9fs)
|
rs2132045027
|
|
NM_000318.3(PEX2):c.253dup (p.Tyr85fs)
|
|
|
NM_000318.3(PEX2):c.260del (p.Asn87fs)
|
|
|
NM_000318.3(PEX2):c.263A>G (p.Asp88Gly)
|
|
|
NM_000318.3(PEX2):c.265T>A (p.Phe89Ile)
|
rs1463397236
|
|
NM_000318.3(PEX2):c.268T>A (p.Ser90Thr)
|
|
|
NM_000318.3(PEX2):c.272dup (p.Pro91_Asn92insTer)
|
|
|
NM_000318.3(PEX2):c.275A>C (p.Asn92Thr)
|
rs2132044452
|
|
NM_000318.3(PEX2):c.278T>C (p.Leu93Pro)
|
|
|
NM_000318.3(PEX2):c.279_283del (p.Arg94fs)
|
rs61752122
|
|
NM_000318.3(PEX2):c.280A>G (p.Arg94Gly)
|
|
|
NM_000318.3(PEX2):c.285T>C (p.Tyr95=)
|
rs202204148
|
|
NM_000318.3(PEX2):c.285T>G (p.Tyr95Ter)
|
|
|
NM_000318.3(PEX2):c.286C>T (p.Gln96Ter)
|
rs2132044384
|
|
NM_000318.3(PEX2):c.298A>G (p.Lys100Glu)
|
|
|
NM_000318.3(PEX2):c.304C>T (p.Gln102Ter)
|
rs200065382
|
|
NM_000318.3(PEX2):c.310del (p.Ile104fs)
|
|
|
NM_000318.3(PEX2):c.310dup (p.Ile104fs)
|
rs1235008965
|
|
NM_000318.3(PEX2):c.312C>A (p.Ile104=)
|
rs1242924229
|
|
NM_000318.3(PEX2):c.314G>A (p.Trp105Ter)
|
|
|
NM_000318.3(PEX2):c.318T>A (p.Tyr106Ter)
|
|
|
NM_000318.3(PEX2):c.320C>A (p.Ala107Asp)
|
|
|
NM_000318.3(PEX2):c.320C>T (p.Ala107Val)
|
rs2132044318
|
|
NM_000318.3(PEX2):c.320_326del (p.Ala107fs)
|
|
|
NM_000318.3(PEX2):c.324T>A (p.Val108=)
|
|
|
NM_000318.3(PEX2):c.325dup (p.Cys109fs)
|
rs1052655986
|
|
NM_000318.3(PEX2):c.32C>A (p.Ala11Glu)
|
|
|
NM_000318.3(PEX2):c.339_345del (p.Gly113_Arg114insTer)
|
rs764771123
|
|
NM_000318.3(PEX2):c.342G>A (p.Arg114=)
|
rs778787558
|
|
NM_000318.3(PEX2):c.344G>C (p.Trp115Ser)
|
|
|
NM_000318.3(PEX2):c.349GAA[1] (p.Glu118del)
|
rs1554584507
|
|
NM_000318.3(PEX2):c.34_37del (p.Asn12fs)
|
rs1174648906
|
|
NM_000318.3(PEX2):c.351A>G (p.Glu117=)
|
rs2132044225
|
|
NM_000318.3(PEX2):c.352del (p.Glu118fs)
|
|
|
NM_000318.3(PEX2):c.354_355del (p.Arg119fs)
|
rs1554584505
|
|
NM_000318.3(PEX2):c.356G>A (p.Arg119Gln)
|
|
|
NM_000318.3(PEX2):c.357A>C (p.Arg119=)
|
rs767740481
|
|
NM_000318.3(PEX2):c.361T>C (p.Tyr121His)
|
rs1201697415
|
|
NM_000318.3(PEX2):c.362A>G (p.Tyr121Cys)
|
|
|
NM_000318.3(PEX2):c.365A>T (p.Asp122Val)
|
|
|
NM_000318.3(PEX2):c.368T>C (p.Leu123Ser)
|
rs2132044164
|
|
NM_000318.3(PEX2):c.369G>A (p.Leu123=)
|
|
|
NM_000318.3(PEX2):c.369del (p.Leu123fs)
|
|
|
NM_000318.3(PEX2):c.373C>A (p.Arg125=)
|
rs61752124
|
|
NM_000318.3(PEX2):c.373C>G (p.Arg125Gly)
|
|
|
NM_000318.3(PEX2):c.375A>G (p.Arg125=)
|
|
|
NM_000318.3(PEX2):c.377A>G (p.Asn126Ser)
|
rs2132044121
|
|
NM_000318.3(PEX2):c.381T>C (p.His127=)
|
rs1806915769
|
|
NM_000318.3(PEX2):c.384T>C (p.His128=)
|
|
|
NM_000318.3(PEX2):c.386T>A (p.Leu129Ter)
|
rs1224224276
|
|
NM_000318.3(PEX2):c.387_396dup (p.Gly133fs)
|
rs2132044079
|
|
NM_000318.3(PEX2):c.393A>G (p.Ser131=)
|
rs1407170162
|
|
NM_000318.3(PEX2):c.395_396del (p.Phe132fs)
|
|
|
NM_000318.3(PEX2):c.399G>A (p.Gly133=)
|
rs760342808
|
|
NM_000318.3(PEX2):c.39_40del (p.Arg13fs)
|
|
|
NM_000318.3(PEX2):c.402A>G (p.Lys134=)
|
rs953517125
|
|
NM_000318.3(PEX2):c.405C>A (p.Val135=)
|
|
|
NM_000318.3(PEX2):c.410A>G (p.Gln137Arg)
|
|
|
NM_000318.3(PEX2):c.412T>A (p.Cys138Ser)
|
rs2132044038
|
|
NM_000318.3(PEX2):c.414_426dup (p.Ile143fs)
|
|
|
NM_000318.3(PEX2):c.415G>T (p.Val139Leu)
|
rs1806914302
|
|
NM_000318.3(PEX2):c.416_417del (p.Val139fs)
|
rs2132044032
|
|
NM_000318.3(PEX2):c.429T>A (p.Ile143=)
|
|
|
NM_000318.3(PEX2):c.429T>G (p.Ile143Met)
|
|
|
NM_000318.3(PEX2):c.436T>C (p.Leu146=)
|
rs2132044010
|
|
NM_000318.3(PEX2):c.437T>C (p.Leu146Ser)
|
|
|
NM_000318.3(PEX2):c.43C>T (p.Leu15=)
|
|
|
NM_000318.3(PEX2):c.44T>C (p.Leu15Pro)
|
|
|
NM_000318.3(PEX2):c.450G>T (p.Gly150=)
|
rs2132043975
|
|
NM_000318.3(PEX2):c.452T>C (p.Leu151Pro)
|
rs2132043971
|
|
NM_000318.3(PEX2):c.453G>A (p.Leu151=)
|
|
|
NM_000318.3(PEX2):c.455_456insG (p.Ile152fs)
|
rs2132043966
|
|
NM_000318.3(PEX2):c.45A>C (p.Leu15=)
|
|
|
NM_000318.3(PEX2):c.465G>A (p.Leu155=)
|
|
|
NM_000318.3(PEX2):c.470del (p.Phe157fs)
|
|
|
NM_000318.3(PEX2):c.472del (p.Leu158fs)
|
rs1554584487
|
|
NM_000318.3(PEX2):c.475C>T (p.Gln159Ter)
|
|
|
NM_000318.3(PEX2):c.483A>G (p.Gly161=)
|
rs2132043885
|
|
NM_000318.3(PEX2):c.488T>G (p.Phe163Cys)
|
|
|
NM_000318.3(PEX2):c.489T>C (p.Phe163=)
|
|
|
NM_000318.3(PEX2):c.494C>A (p.Thr165Asn)
|
|
|
NM_000318.3(PEX2):c.495T>A (p.Thr165=)
|
|
|
NM_000318.3(PEX2):c.495T>C (p.Thr165=)
|
|
|
NM_000318.3(PEX2):c.497T>A (p.Leu166Ter)
|
rs1586069639
|
|
NM_000318.3(PEX2):c.497T>G (p.Leu166Trp)
|
|
|
NM_000318.3(PEX2):c.500C>G (p.Thr167Arg)
|
|
|
NM_000318.3(PEX2):c.500C>T (p.Thr167Ile)
|
|
|
NM_000318.3(PEX2):c.502G>T (p.Glu168Ter)
|
|
|
NM_000318.3(PEX2):c.502_503del (p.Glu168fs)
|
rs1554584474
|
|
NM_000318.3(PEX2):c.505C>G (p.Arg169Gly)
|
rs752394595
|
|
NM_000318.3(PEX2):c.505C>T (p.Arg169Cys)
|
|
|
NM_000318.3(PEX2):c.506G>A (p.Arg169His)
|
|
|
NM_000318.3(PEX2):c.506G>T (p.Arg169Leu)
|
rs564144139
|
|
NM_000318.3(PEX2):c.507T>A (p.Arg169=)
|
|
|
NM_000318.3(PEX2):c.511C>T (p.Leu171=)
|
|
|
NM_000318.3(PEX2):c.513A>G (p.Leu171=)
|
rs2132043808
|
|
NM_000318.3(PEX2):c.521_524del (p.His174fs)
|
|
|
NM_000318.3(PEX2):c.524del (p.Ser175fs)
|
rs2132043781
|
|
NM_000318.3(PEX2):c.526G>A (p.Val176Ile)
|
|
|
NM_000318.3(PEX2):c.549_550del (p.Ile183fs)
|
rs756891007
|
|
NM_000318.3(PEX2):c.54C>A (p.Ser18Arg)
|
rs545785018
|
|
NM_000318.3(PEX2):c.54C>T (p.Ser18=)
|
rs545785018
|
|
NM_000318.3(PEX2):c.550_551delinsCT (p.Cys184Leu)
|
rs2132043720
|
|
NM_000318.3(PEX2):c.550_551insC (p.Cys184fs)
|
rs2132043724
|
|
NM_000318.3(PEX2):c.550del (p.Cys184fs)
|
rs63545361
|
|
NM_000318.3(PEX2):c.550delinsCC (p.Cys184fs)
|
|
|
NM_000318.3(PEX2):c.555A>G (p.Glu185=)
|
|
|
NM_000318.3(PEX2):c.567A>G (p.Glu189=)
|
|
|
NM_000318.3(PEX2):c.571A>C (p.Met191Leu)
|
rs747946744
|
|
NM_000318.3(PEX2):c.571del (p.Tyr190_Met191insTer)
|
rs2132043667
|
|
NM_000318.3(PEX2):c.573G>C (p.Met191Ile)
|
rs2132043654
|
|
NM_000318.3(PEX2):c.575A>G (p.Asn192Ser)
|
|
|
NM_000318.3(PEX2):c.57G>A (p.Gln19=)
|
rs2132044973
|
|
NM_000318.3(PEX2):c.584T>C (p.Leu195Pro)
|
|
|
NM_000318.3(PEX2):c.585T>C (p.Leu195=)
|
|
|
NM_000318.3(PEX2):c.594T>C (p.His198=)
|
|
|
NM_000318.3(PEX2):c.5C>A (p.Ala2Asp)
|
|
|
NM_000318.3(PEX2):c.600T>C (p.Phe200=)
|
|
|
NM_000318.3(PEX2):c.601G>A (p.Ala201Thr)
|
|
|
NM_000318.3(PEX2):c.603T>C (p.Ala201=)
|
|
|
NM_000318.3(PEX2):c.604G>C (p.Glu202Gln)
|
|
|
NM_000318.3(PEX2):c.606A>T (p.Glu202Asp)
|
rs376974246
|
|
NM_000318.3(PEX2):c.607T>C (p.Phe203Leu)
|
rs1806904326
|
|
NM_000318.3(PEX2):c.608T>G (p.Phe203Cys)
|
rs2132043579
|
|
NM_000318.3(PEX2):c.610_611del (p.Leu204fs)
|
|
|
NM_000318.3(PEX2):c.614T>G (p.Ile205Ser)
|
|
|
NM_000318.3(PEX2):c.618del (p.Leu207fs)
|
rs2132043567
|
|
NM_000318.3(PEX2):c.619C>G (p.Leu207Val)
|
rs143986865
|
|
NM_000318.3(PEX2):c.621C>T (p.Leu207=)
|
|
|
NM_000318.3(PEX2):c.627A>G (p.Pro209=)
|
|
|
NM_000318.3(PEX2):c.628C>T (p.Leu210Phe)
|
rs1420998615
|
|
NM_000318.3(PEX2):c.62A>G (p.Asp21Gly)
|
rs1484917700
|
|
NM_000318.3(PEX2):c.632T>C (p.Ile211Thr)
|
|
|
NM_000318.3(PEX2):c.639C>T (p.Val213=)
|
|
|
NM_000318.3(PEX2):c.63T>C (p.Asp21=)
|
|
|
NM_000318.3(PEX2):c.657G>A (p.Lys219=)
|
|
|
NM_000318.3(PEX2):c.657G>C (p.Lys219Asn)
|
rs1806902121
|
|
NM_000318.3(PEX2):c.661_676dup (p.Pro226fs)
|
|
|
NM_000318.3(PEX2):c.669G>A (p.Trp223Ter)
|
rs61752127
|
|
NM_000318.3(PEX2):c.671G>A (p.Cys224Tyr)
|
|
|
NM_000318.3(PEX2):c.673A>G (p.Ile225Val)
|
|
|
NM_000318.3(PEX2):c.678T>C (p.Pro226=)
|
rs2132043403
|
|
NM_000318.3(PEX2):c.681T>C (p.Leu227=)
|
|
|
NM_000318.3(PEX2):c.685G>C (p.Gly229Arg)
|
|
|
NM_000318.3(PEX2):c.686G>A (p.Gly229Asp)
|
rs2132043367
|
|
NM_000318.3(PEX2):c.688G>A (p.Ala230Thr)
|
rs1475641448
|
|
NM_000318.3(PEX2):c.693T>A (p.Pro231=)
|
|
|
NM_000318.3(PEX2):c.693T>C (p.Pro231=)
|
|
|
NM_000318.3(PEX2):c.693T>G (p.Pro231=)
|
|
|
NM_000318.3(PEX2):c.694A>G (p.Asn232Asp)
|
rs1806899956
|
|
NM_000318.3(PEX2):c.69T>G (p.Leu23=)
|
|
|
NM_000318.3(PEX2):c.6T>C (p.Ala2=)
|
|
|
NM_000318.3(PEX2):c.701_706del (p.Asp234_Thr236delinsAla)
|
rs1554584423
|
|
NM_000318.3(PEX2):c.708A>C (p.Thr236=)
|
|
|
NM_000318.3(PEX2):c.708A>G (p.Thr236=)
|
|
|
NM_000318.3(PEX2):c.715A>T (p.Thr239Ser)
|
|
|
NM_000318.3(PEX2):c.717C>T (p.Thr239=)
|
rs2132043284
|
|
NM_000318.3(PEX2):c.718A>C (p.Ser240Arg)
|
|
|
NM_000318.3(PEX2):c.720T>C (p.Ser240=)
|
rs914631161
|
|
NM_000318.3(PEX2):c.726A>G (p.Lys242=)
|
rs2132043260
|
|
NM_000318.3(PEX2):c.72A>G (p.Glu24=)
|
rs750660448
|
|
NM_000318.3(PEX2):c.733G>C (p.Ala245Pro)
|
rs112108739
|
|
NM_000318.3(PEX2):c.735T>C (p.Ala245=)
|
|
|
NM_000318.3(PEX2):c.736C>G (p.Leu246Val)
|
rs757764014
|
|
NM_000318.3(PEX2):c.737T>C (p.Leu246Pro)
|
|
|
NM_000318.3(PEX2):c.738A>T (p.Leu246=)
|
rs376101275
|
|
NM_000318.3(PEX2):c.739T>C (p.Cys247Arg)
|
rs61752128
|
|
NM_000318.3(PEX2):c.73C>T (p.Leu25=)
|
rs1586070356
|
|
NM_000318.3(PEX2):c.752C>G (p.Pro251Arg)
|
|
|
NM_000318.3(PEX2):c.752C>T (p.Pro251Leu)
|
|
|
NM_000318.3(PEX2):c.756C>T (p.Thr252=)
|
|
|
NM_000318.3(PEX2):c.757A>G (p.Met253Val)
|
|
|
NM_000318.3(PEX2):c.75A>G (p.Leu25=)
|
rs2132044926
|
|
NM_000318.3(PEX2):c.765C>T (p.His255=)
|
rs2132043163
|
|
NM_000318.3(PEX2):c.766A>G (p.Thr256Ala)
|
rs1220452895
|
|
NM_000318.3(PEX2):c.76A>C (p.Asn26His)
|
rs977528373
|
|
NM_000318.3(PEX2):c.771A>T (p.Ile257=)
|
rs1586069200
|
|
NM_000318.3(PEX2):c.773G>A (p.Gly258Glu)
|
rs1428046580
|
|
NM_000318.3(PEX2):c.77_79delinsTT (p.Asn26fs)
|
|
|
NM_000318.3(PEX2):c.783T>C (p.His261=)
|
rs1586069185
|
|
NM_000318.3(PEX2):c.784A>G (p.Ile262Val)
|
rs1806895422
|
|
NM_000318.3(PEX2):c.78C>G (p.Asn26Lys)
|
|
|
NM_000318.3(PEX2):c.78_80del (p.Asn26del)
|
rs1806932884
|
|
NM_000318.3(PEX2):c.791_795del (p.Cys264fs)
|
|
|
NM_000318.3(PEX2):c.793_797del (p.Tyr265fs)
|
rs2132043053
|
|
NM_000318.3(PEX2):c.794A>G (p.Tyr265Cys)
|
rs2132043073
|
|
NM_000318.3(PEX2):c.79_80del (p.Lys27fs)
|
rs1261498405
|
|
NM_000318.3(PEX2):c.807_808insT (p.Ser270Ter)
|
|
|
NM_000318.3(PEX2):c.809G>C (p.Ser270Thr)
|
|
|
NM_000318.3(PEX2):c.825C>T (p.Asp275=)
|
rs367649632
|
|
NM_000318.3(PEX2):c.828G>A (p.Val276=)
|
|
|
NM_000318.3(PEX2):c.82G>A (p.Ala28Thr)
|
|
|
NM_000318.3(PEX2):c.830A>G (p.Tyr277Cys)
|
|
|
NM_000318.3(PEX2):c.831C>T (p.Tyr277=)
|
|
|
NM_000318.3(PEX2):c.831delinsGTTTCTTA (p.Tyr277Ter)
|
|
|
NM_000318.3(PEX2):c.834T>C (p.Phe278=)
|
|
|
NM_000318.3(PEX2):c.834_838del (p.Phe278fs)
|
rs267608188
|
|
NM_000318.3(PEX2):c.843T>C (p.Pro281=)
|
|
|
NM_000318.3(PEX2):c.852C>T (p.Gly284=)
|
rs2132042925
|
|
NM_000318.3(PEX2):c.854C>G (p.Thr285Arg)
|
|
|
NM_000318.3(PEX2):c.855A>G (p.Thr285=)
|
rs1806891966
|
|
NM_000318.3(PEX2):c.857_859del (p.Glu286del)
|
rs1460738027
|
|
NM_000318.3(PEX2):c.858A>G (p.Glu286=)
|
|
|
NM_000318.3(PEX2):c.85C>T (p.Leu29=)
|
rs1277480138
|
|
NM_000318.3(PEX2):c.864C>T (p.His288=)
|
|
|
NM_000318.3(PEX2):c.865dup (p.Ser289fs)
|
rs724160029
|
|
NM_000318.3(PEX2):c.866G>A (p.Ser289Asn)
|
|
|
NM_000318.3(PEX2):c.868C>T (p.Leu290=)
|
rs2132042893
|
|
NM_000318.3(PEX2):c.875C>T (p.Pro292Leu)
|
rs2132042879
|
|
NM_000318.3(PEX2):c.881A>C (p.Lys294Thr)
|
rs2132042875
|
|
NM_000318.3(PEX2):c.884C>G (p.Ser295Ter)
|
rs1554584377
|
|
NM_000318.3(PEX2):c.884C>T (p.Ser295Leu)
|
|
|
NM_000318.3(PEX2):c.885A>G (p.Ser295=)
|
rs886332712
|
|
NM_000318.3(PEX2):c.891C>G (p.Ile297Met)
|
|
|
NM_000318.3(PEX2):c.897G>A (p.Met299Ile)
|
rs1806890153
|
|
NM_000318.3(PEX2):c.90G>A (p.Glu30=)
|
rs777639216
|
|
NM_000318.3(PEX2):c.911C>T (p.Ala304Val)
|
|
|
NM_000318.3(PEX2):c.912T>C (p.Ala304=)
|
rs1034467919
|
|
NM_000318.3(PEX2):c.915T>A (p.Leu305=)
|
rs1806889622
|
|
NM_000318.3(PEX2):c.91C>T (p.Gln31Ter)
|
rs149287302
|
|
NM_000318.3(PEX2):c.92A>C (p.Gln31Pro)
|
rs1806931527
|
|
NM_000318.3(PEX2):c.94C>T (p.Leu32=)
|
|
|
NM_000318.3(PEX2):c.96A>G (p.Leu32=)
|
rs754405926
|
|