NM_004813.4(PEX16):c.346G>A (p.Val116Ile)
|
rs10742772
|
0.99994
|
NM_004813.4(PEX16):c.542-16C>T
|
rs3802758
|
0.80104
|
NM_004813.4(PEX16):c.873T>C (p.Tyr291=)
|
rs1132349
|
0.79011
|
NM_057174.2(PEX16):c.*434G>A
|
rs2280329
|
0.60761
|
NM_004813.4(PEX16):c.*303C>T
|
rs10838529
|
0.53226
|
NM_004813.4(PEX16):c.*587A>G
|
rs72902478
|
0.06684
|
NM_004813.2(PEX16):c.-279G>A
|
rs2280330
|
0.02963
|
NM_004813.4(PEX16):c.303C>T (p.Ala101=)
|
rs80275010
|
0.02501
|
NM_004813.4(PEX16):c.*438C>T
|
rs2280328
|
0.02139
|
NM_004813.4(PEX16):c.307G>A (p.Val103Met)
|
rs11553094
|
0.01821
|
NM_004813.4(PEX16):c.760G>C (p.Val254Leu)
|
rs35214605
|
0.01652
|
NM_004813.4(PEX16):c.*158A>C
|
rs79435202
|
0.01440
|
NM_004813.4(PEX16):c.*65T>C
|
rs16938413
|
0.00789
|
NM_004813.4(PEX16):c.952+18C>T
|
rs112068553
|
0.00535
|
NM_004813.4(PEX16):c.943C>T (p.Leu315=)
|
rs150774189
|
0.00426
|
NM_004813.4(PEX16):c.*10C>T
|
rs201127195
|
0.00197
|
NM_004813.4(PEX16):c.204G>T (p.Glu68Asp)
|
rs149348130
|
0.00192
|
NM_004813.4(PEX16):c.*175C>A
|
rs375099703
|
0.00055
|
NM_004813.2(PEX16):c.-184A>G
|
rs745333570
|
0.00051
|
NM_004813.4(PEX16):c.543G>A (p.Thr181=)
|
rs144063598
|
0.00044
|
NM_004813.4(PEX16):c.149-6C>T
|
rs78883829
|
0.00041
|
NM_004813.4(PEX16):c.695-15C>T
|
rs187663300
|
0.00036
|
NM_004813.4(PEX16):c.695-6C>T
|
rs372182266
|
0.00036
|
NM_004813.4(PEX16):c.*107C>T
|
rs201513691
|
0.00034
|
NM_004813.2(PEX16):c.-164G>T
|
rs773746164
|
0.00028
|
NM_004813.4(PEX16):c.*70C>G
|
rs530762140
|
0.00027
|
NM_004813.4(PEX16):c.461A>G (p.Asp154Gly)
|
rs140695185
|
0.00026
|
NM_004813.4(PEX16):c.846C>T (p.Leu282=)
|
rs148019119
|
0.00026
|
NM_004813.4(PEX16):c.887+9C>A
|
rs370590743
|
0.00026
|
NM_004813.4(PEX16):c.1002T>C (p.Ser334=)
|
rs144897515
|
0.00024
|
NM_004813.4(PEX16):c.832A>G (p.Thr278Ala)
|
rs765797303
|
0.00019
|
NM_004813.4(PEX16):c.814C>T (p.Arg272Trp)
|
rs560024236
|
0.00018
|
NM_004813.4(PEX16):c.196C>T (p.Arg66Trp)
|
rs767624302
|
0.00017
|
NM_004813.4(PEX16):c.24C>T (p.Gly8=)
|
rs368789483
|
0.00017
|
NM_004813.4(PEX16):c.726G>A (p.Ser242=)
|
rs200414298
|
0.00016
|
NM_004813.4(PEX16):c.999C>T (p.Tyr333=)
|
rs146657010
|
0.00016
|
NM_004813.4(PEX16):c.877C>T (p.Arg293Cys)
|
rs544053792
|
0.00013
|
NM_004813.4(PEX16):c.768-20A>G
|
rs368734262
|
0.00012
|
NM_004813.4(PEX16):c.635C>G (p.Pro212Arg)
|
rs201846257
|
0.00011
|
NM_004813.4(PEX16):c.952+19G>A
|
rs369341299
|
0.00011
|
NM_004813.4(PEX16):c.*557G>C
|
rs770223341
|
0.00010
|
NM_004813.4(PEX16):c.499G>A (p.Val167Met)
|
rs147332976
|
0.00010
|
NM_004813.4(PEX16):c.262G>A (p.Val88Met)
|
rs567165324
|
0.00009
|
NM_004813.4(PEX16):c.458C>T (p.Pro153Leu)
|
rs779813719
|
0.00009
|
NM_004813.4(PEX16):c.946G>A (p.Val316Ile)
|
rs775371916
|
0.00009
|
NM_004813.4(PEX16):c.960C>T (p.Leu320=)
|
rs370792374
|
0.00009
|
NM_004813.4(PEX16):c.360-7G>A
|
rs202161790
|
0.00007
|
NM_004813.4(PEX16):c.702C>T (p.Ser234=)
|
rs138485159
|
0.00007
|
NM_004813.4(PEX16):c.*341C>T
|
rs559300237
|
0.00006
|
NM_004813.4(PEX16):c.*53C>G
|
rs369974509
|
0.00006
|
NM_004813.4(PEX16):c.225+18A>T
|
rs369008253
|
0.00006
|
NM_004813.4(PEX16):c.360-18A>C
|
rs376700606
|
0.00006
|
NM_004813.4(PEX16):c.423C>T (p.Ile141=)
|
rs754277134
|
0.00006
|
NM_004813.4(PEX16):c.654C>G (p.Thr218=)
|
rs372347595
|
0.00006
|
NM_004813.4(PEX16):c.1006G>C (p.Gly336Arg)
|
rs767383372
|
0.00005
|
NM_004813.4(PEX16):c.103C>T (p.Leu35=)
|
rs1427588700
|
0.00004
|
NM_004813.4(PEX16):c.186C>T (p.Asp62=)
|
rs757594159
|
0.00004
|
NM_004813.4(PEX16):c.18C>G (p.Leu6=)
|
rs921940265
|
0.00004
|
NM_004813.4(PEX16):c.209G>A (p.Arg70Gln)
|
rs776600798
|
0.00004
|
NM_004813.4(PEX16):c.252A>G (p.Thr84=)
|
rs367893667
|
0.00004
|
NM_004813.4(PEX16):c.340G>A (p.Ala114Thr)
|
rs374045163
|
0.00004
|
NM_004813.4(PEX16):c.421A>G (p.Ile141Val)
|
rs761426585
|
0.00004
|
NM_004813.4(PEX16):c.475C>T (p.Pro159Ser)
|
rs774416603
|
0.00004
|
NM_004813.4(PEX16):c.588G>C (p.Glu196Asp)
|
rs759501669
|
0.00004
|
NM_004813.4(PEX16):c.616C>G (p.Leu206Val)
|
rs375515674
|
0.00004
|
NM_004813.4(PEX16):c.768C>T (p.Ser256=)
|
rs1173649955
|
0.00004
|
NM_004813.4(PEX16):c.*309G>C
|
rs886048325
|
0.00003
|
NM_004813.4(PEX16):c.113-4C>T
|
rs199760503
|
0.00003
|
NM_004813.4(PEX16):c.180C>T (p.Leu60=)
|
rs779326282
|
0.00003
|
NM_004813.4(PEX16):c.208C>T (p.Arg70Trp)
|
rs886044340
|
0.00003
|
NM_004813.4(PEX16):c.273C>T (p.Cys91=)
|
rs146476007
|
0.00003
|
NM_004813.4(PEX16):c.578A>G (p.Gln193Arg)
|
rs761839307
|
0.00003
|
NM_004813.4(PEX16):c.593G>A (p.Arg198Gln)
|
rs1319561377
|
0.00003
|
NM_004813.4(PEX16):c.643C>G (p.Leu215Val)
|
rs773150003
|
0.00003
|
NM_004813.4(PEX16):c.694+12G>A
|
rs766275337
|
0.00003
|
NM_004813.4(PEX16):c.694+14G>A
|
rs750448293
|
0.00003
|
NM_004813.4(PEX16):c.844C>T (p.Leu282Phe)
|
rs199767958
|
0.00003
|
NM_004813.4(PEX16):c.888-7C>T
|
rs890395851
|
0.00003
|
NM_004813.4(PEX16):c.921C>T (p.Ala307=)
|
rs377151998
|
0.00003
|
NM_004813.4(PEX16):c.952+8G>T
|
rs756773793
|
0.00003
|
NM_004813.4(PEX16):c.13C>T (p.Arg5Trp)
|
rs768102300
|
0.00002
|
NM_004813.4(PEX16):c.147G>A (p.Leu49=)
|
rs944696367
|
0.00002
|
NM_004813.4(PEX16):c.148+10G>A
|
rs189736132
|
0.00002
|
NM_004813.4(PEX16):c.149-13C>G
|
rs369471815
|
0.00002
|
NM_004813.4(PEX16):c.274G>A (p.Val92Met)
|
rs764174581
|
0.00002
|
NM_004813.4(PEX16):c.27C>T (p.Leu9=)
|
rs913040375
|
0.00002
|
NM_004813.4(PEX16):c.419C>G (p.Pro140Arg)
|
rs764641368
|
0.00002
|
NM_004813.4(PEX16):c.472A>G (p.Ser158Gly)
|
rs1394054374
|
0.00002
|
NM_004813.4(PEX16):c.546G>A (p.Pro182=)
|
rs1026595479
|
0.00002
|
NM_004813.4(PEX16):c.592C>T (p.Arg198Trp)
|
rs774218187
|
0.00002
|
NM_004813.4(PEX16):c.609C>T (p.His203=)
|
rs537046144
|
0.00002
|
NM_004813.4(PEX16):c.657C>T (p.Ile219=)
|
rs200522601
|
0.00002
|
NM_004813.4(PEX16):c.694+11C>T
|
rs763840804
|
0.00002
|
NM_004813.4(PEX16):c.695-5G>A
|
rs775367961
|
0.00002
|
NM_004813.4(PEX16):c.699C>T (p.Leu233=)
|
rs781411790
|
0.00002
|
NM_004813.4(PEX16):c.759C>T (p.Asp253=)
|
rs774788367
|
0.00002
|
NM_004813.4(PEX16):c.768-12C>T
|
rs773840409
|
0.00002
|
NM_004813.4(PEX16):c.803G>A (p.Arg268Gln)
|
rs376763841
|
0.00002
|
NM_004813.4(PEX16):c.811C>T (p.Arg271Trp)
|
rs777810731
|
0.00002
|
NM_004813.4(PEX16):c.885C>T (p.Ser295=)
|
rs200415017
|
0.00002
|
NM_004813.4(PEX16):c.937G>A (p.Val313Ile)
|
rs747521980
|
0.00002
|
NM_004813.4(PEX16):c.957G>A (p.Pro319=)
|
rs751904831
|
0.00002
|
NM_004813.4(PEX16):c.*277C>T
|
rs886048326
|
0.00001
|
NM_004813.4(PEX16):c.112+18G>C
|
rs2086852660
|
0.00001
|
NM_004813.4(PEX16):c.148+7C>T
|
rs1001236613
|
0.00001
|
NM_004813.4(PEX16):c.149-20G>A
|
rs746963607
|
0.00001
|
NM_004813.4(PEX16):c.162T>C (p.Ser54=)
|
rs552583175
|
0.00001
|
NM_004813.4(PEX16):c.165C>T (p.Asn55=)
|
rs746381331
|
0.00001
|
NM_004813.4(PEX16):c.187G>A (p.Gly63Arg)
|
rs754220780
|
0.00001
|
NM_004813.4(PEX16):c.197G>A (p.Arg66Gln)
|
rs143737124
|
0.00001
|
NM_004813.4(PEX16):c.202G>A (p.Glu68Lys)
|
rs374895823
|
0.00001
|
NM_004813.4(PEX16):c.226-12G>A
|
rs770166678
|
0.00001
|
NM_004813.4(PEX16):c.227C>T (p.Ser76Leu)
|
rs139930879
|
0.00001
|
NM_004813.4(PEX16):c.28C>A (p.Arg10Ser)
|
rs2086854956
|
0.00001
|
NM_004813.4(PEX16):c.325C>T (p.Arg109Cys)
|
rs779016766
|
0.00001
|
NM_004813.4(PEX16):c.360-5C>A
|
rs748034237
|
0.00001
|
NM_004813.4(PEX16):c.360-8C>T
|
rs1285530111
|
0.00001
|
NM_004813.4(PEX16):c.370C>T (p.Arg124Trp)
|
rs754748410
|
0.00001
|
NM_004813.4(PEX16):c.371G>A (p.Arg124Gln)
|
rs751381531
|
0.00001
|
NM_004813.4(PEX16):c.42C>T (p.Tyr14=)
|
rs376366140
|
0.00001
|
NM_004813.4(PEX16):c.444C>G (p.Thr148=)
|
rs1278944049
|
0.00001
|
NM_004813.4(PEX16):c.448G>T (p.Ala150Ser)
|
rs772360222
|
0.00001
|
NM_004813.4(PEX16):c.451C>T (p.Gln151Ter)
|
rs1218545995
|
0.00001
|
NM_004813.4(PEX16):c.460+20C>A
|
rs749438800
|
0.00001
|
NM_004813.4(PEX16):c.461-6del
|
rs1344841850
|
0.00001
|
NM_004813.4(PEX16):c.492G>C (p.Gln164His)
|
rs773347735
|
0.00001
|
NM_004813.4(PEX16):c.498C>T (p.Tyr166=)
|
rs918637787
|
0.00001
|
NM_004813.4(PEX16):c.526C>T (p.Arg176Ter)
|
rs61752117
|
0.00001
|
NM_004813.4(PEX16):c.542-4C>G
|
rs755666423
|
0.00001
|
NM_004813.4(PEX16):c.545C>T (p.Pro182Leu)
|
rs755516862
|
0.00001
|
NM_004813.4(PEX16):c.583C>T (p.Arg195Trp)
|
rs557365860
|
0.00001
|
NM_004813.4(PEX16):c.610G>A (p.Glu204Lys)
|
rs368553807
|
0.00001
|
NM_004813.4(PEX16):c.612G>A (p.Glu204=)
|
rs758739455
|
0.00001
|
NM_004813.4(PEX16):c.623C>T (p.Ala208Val)
|
rs201173264
|
0.00001
|
NM_004813.4(PEX16):c.624G>A (p.Ala208=)
|
rs1198584811
|
0.00001
|
NM_004813.4(PEX16):c.629C>T (p.Pro210Leu)
|
rs565706311
|
0.00001
|
NM_004813.4(PEX16):c.633C>T (p.Thr211=)
|
rs1320072269
|
0.00001
|
NM_004813.4(PEX16):c.675T>A (p.Ile225=)
|
rs757682196
|
0.00001
|
NM_004813.4(PEX16):c.679C>T (p.Arg227Trp)
|
rs1064794320
|
0.00001
|
NM_004813.4(PEX16):c.680G>A (p.Arg227Gln)
|
rs754024503
|
0.00001
|
NM_004813.4(PEX16):c.684G>A (p.Pro228=)
|
rs777904359
|
0.00001
|
NM_004813.4(PEX16):c.710T>G (p.Leu237Arg)
|
rs753577538
|
0.00001
|
NM_004813.4(PEX16):c.711G>A (p.Leu237=)
|
rs763743599
|
0.00001
|
NM_004813.4(PEX16):c.730A>C (p.Lys244Gln)
|
rs2086807349
|
0.00001
|
NM_004813.4(PEX16):c.734C>T (p.Pro245Leu)
|
rs1364730132
|
0.00001
|
NM_004813.4(PEX16):c.752T>G (p.Val251Gly)
|
rs759092071
|
0.00001
|
NM_004813.4(PEX16):c.802C>T (p.Arg268Trp)
|
rs886044625
|
0.00001
|
NM_004813.4(PEX16):c.812G>A (p.Arg271Gln)
|
rs769838583
|
0.00001
|
NM_004813.4(PEX16):c.820C>A (p.Leu274Met)
|
rs751273439
|
0.00001
|
NM_004813.4(PEX16):c.823C>T (p.Arg275Trp)
|
rs372815115
|
0.00001
|
NM_004813.4(PEX16):c.859C>T (p.Arg287Cys)
|
rs769772100
|
0.00001
|
NM_004813.4(PEX16):c.888-18A>C
|
rs779536979
|
0.00001
|
NM_004813.4(PEX16):c.892A>G (p.Arg298Gly)
|
rs887278864
|
0.00001
|
NM_004813.4(PEX16):c.930C>T (p.Val310=)
|
rs766416680
|
0.00001
|
NM_004813.4(PEX16):c.952+20C>T
|
rs781618336
|
0.00001
|
NM_004813.4(PEX16):c.962T>C (p.Met321Thr)
|
rs758636115
|
0.00001
|
NM_004813.4(PEX16):c.996C>T (p.Phe332=)
|
rs200546977
|
0.00001
|
NM_004813.2(PEX16):c.-265C>T
|
rs886048330
|
|
NM_004813.2(PEX16):c.-290C>G
|
rs886048331
|
|
NM_004813.2(PEX16):c.-305C>T
|
rs886048332
|
|
NM_004813.2(PEX16):c.-67C>A
|
rs886048329
|
|
NM_004813.4(PEX16):c.*324G>A
|
rs879320611
|
|
NM_004813.4(PEX16):c.*376G>A
|
rs143868125
|
|
NM_004813.4(PEX16):c.*376G>C
|
rs143868125
|
|
NM_004813.4(PEX16):c.*491G>A
|
rs886048324
|
|
NM_004813.4(PEX16):c.-63G>C
|
rs532003586
|
|
NM_004813.4(PEX16):c.1001G>A (p.Ser334Asn)
|
|
|
NM_004813.4(PEX16):c.1001G>C (p.Ser334Thr)
|
|
|
NM_004813.4(PEX16):c.102C>T (p.Tyr34=)
|
rs1293863814
|
|
NM_004813.4(PEX16):c.103C>G (p.Leu35Val)
|
rs1427588700
|
|
NM_004813.4(PEX16):c.106C>T (p.Leu36=)
|
|
|
NM_004813.4(PEX16):c.10C>T (p.Leu4=)
|
|
|
NM_004813.4(PEX16):c.112+20T>C
|
|
|
NM_004813.4(PEX16):c.112+2T>G
|
rs1590798080
|
|
NM_004813.4(PEX16):c.112+5C>A
|
|
|
NM_004813.4(PEX16):c.112+5C>T
|
|
|
NM_004813.4(PEX16):c.112+9C>G
|
|
|
NM_004813.4(PEX16):c.112+9C>T
|
rs1275087272
|
|
NM_004813.4(PEX16):c.113-10C>G
|
|
|
NM_004813.4(PEX16):c.113-10C>T
|
rs1414680049
|
|
NM_004813.4(PEX16):c.113-11C>G
|
|
|
NM_004813.4(PEX16):c.113-11C>T
|
rs550316466
|
|
NM_004813.4(PEX16):c.113-15G>A
|
|
|
NM_004813.4(PEX16):c.113-15_113-7del
|
rs1184476774
|
|
NM_004813.4(PEX16):c.113-18T>C
|
|
|
NM_004813.4(PEX16):c.113-18_113-16del
|
|
|
NM_004813.4(PEX16):c.113-20C>T
|
|
|
NM_004813.4(PEX16):c.113-21_113-19del
|
|
|
NM_004813.4(PEX16):c.113-5C>T
|
rs2134699177
|
|
NM_004813.4(PEX16):c.113-6C>A
|
|
|
NM_004813.4(PEX16):c.113-9T>C
|
|
|
NM_004813.4(PEX16):c.115C>T (p.Arg39Ter)
|
rs2134699162
|
|
NM_004813.4(PEX16):c.119T>A (p.Phe40Tyr)
|
|
|
NM_004813.4(PEX16):c.120C>T (p.Phe40=)
|
|
|
NM_004813.4(PEX16):c.129G>A (p.Ser43=)
|
|
|
NM_004813.4(PEX16):c.129G>T (p.Ser43=)
|
|
|
NM_004813.4(PEX16):c.12G>T (p.Leu4=)
|
|
|
NM_004813.4(PEX16):c.134A>T (p.Glu45Val)
|
rs2134699091
|
|
NM_004813.4(PEX16):c.138G>A (p.Leu46=)
|
|
|
NM_004813.4(PEX16):c.13C>A (p.Arg5=)
|
|
|
NM_004813.4(PEX16):c.148+10G>C
|
|
|
NM_004813.4(PEX16):c.148+13C>G
|
|
|
NM_004813.4(PEX16):c.148+18G>A
|
|
|
NM_004813.4(PEX16):c.148+18G>T
|
|
|
NM_004813.4(PEX16):c.148+19G>A
|
|
|
NM_004813.4(PEX16):c.148+9G>T
|
rs905516268
|
|
NM_004813.4(PEX16):c.149-11C>T
|
|
|
NM_004813.4(PEX16):c.149-14T>C
|
|
|
NM_004813.4(PEX16):c.149-15C>G
|
|
|
NM_004813.4(PEX16):c.149-15CT[2]
|
|
|
NM_004813.4(PEX16):c.149-2A>G
|
|
|
NM_004813.4(PEX16):c.149-3C>T
|
|
|
NM_004813.4(PEX16):c.149-5C>G
|
rs768446035
|
|
NM_004813.4(PEX16):c.149-7C>T
|
|
|
NM_004813.4(PEX16):c.149-9A>G
|
|
|
NM_004813.4(PEX16):c.153C>T (p.Tyr51=)
|
|
|
NM_004813.4(PEX16):c.156T>C (p.Ser52=)
|
|
|
NM_004813.4(PEX16):c.165C>G (p.Asn55Lys)
|
rs746381331
|
|
NM_004813.4(PEX16):c.169C>T (p.Leu57Phe)
|
rs1224855761
|
|
NM_004813.4(PEX16):c.16C>T (p.Leu6Phe)
|
rs2086855399
|
|
NM_004813.4(PEX16):c.170T>C (p.Leu57Pro)
|
rs2086834282
|
|
NM_004813.4(PEX16):c.171T>G (p.Leu57=)
|
rs2134697056
|
|
NM_004813.4(PEX16):c.172G>A (p.Val58Met)
|
rs1287709761
|
|
NM_004813.4(PEX16):c.175C>T (p.Leu59=)
|
rs2134697038
|
|
NM_004813.4(PEX16):c.177G>C (p.Leu59=)
|
|
|
NM_004813.4(PEX16):c.178C>G (p.Leu60Val)
|
rs2086834164
|
|
NM_004813.4(PEX16):c.189G>A (p.Gly63=)
|
rs756337787
|
|
NM_004813.4(PEX16):c.189G>C (p.Gly63=)
|
rs756337787
|
|
NM_004813.4(PEX16):c.18C>T (p.Leu6=)
|
rs921940265
|
|
NM_004813.4(PEX16):c.192C>T (p.Ile64=)
|
|
|
NM_004813.4(PEX16):c.193C>T (p.Leu65=)
|
|
|
NM_004813.4(PEX16):c.19C>T (p.Leu7=)
|
|
|
NM_004813.4(PEX16):c.206T>G (p.Leu69Arg)
|
rs761652611
|
|
NM_004813.4(PEX16):c.216G>C (p.Lys72Asn)
|
|
|
NM_004813.4(PEX16):c.221C>T (p.Pro74Leu)
|
|
|
NM_004813.4(PEX16):c.225+15A>G
|
|
|
NM_004813.4(PEX16):c.225+16A>G
|
|
|
NM_004813.4(PEX16):c.225+18A>G
|
|
|
NM_004813.4(PEX16):c.225+3G>A
|
|
|
NM_004813.4(PEX16):c.226-16C>T
|
|
|
NM_004813.4(PEX16):c.226-21_226-19del
|
|
|
NM_004813.4(PEX16):c.226-2A>C
|
|
|
NM_004813.4(PEX16):c.226-6T>C
|
|
|
NM_004813.4(PEX16):c.226-8del
|
|
|
NM_004813.4(PEX16):c.228G>A (p.Ser76=)
|
|
|
NM_004813.4(PEX16):c.230T>C (p.Leu77Pro)
|
rs2086828379
|
|
NM_004813.4(PEX16):c.237G>A (p.Gln79=)
|
|
|
NM_004813.4(PEX16):c.238C>T (p.Gln80Ter)
|
|
|
NM_004813.4(PEX16):c.244C>T (p.Leu82=)
|
|
|
NM_004813.4(PEX16):c.258G>C (p.Leu86=)
|
|
|
NM_004813.4(PEX16):c.25C>T (p.Leu9Phe)
|
rs1369455274
|
|
NM_004813.4(PEX16):c.261C>T (p.Ser87=)
|
rs780266965
|
|
NM_004813.4(PEX16):c.262G>T (p.Val88Leu)
|
rs567165324
|
|
NM_004813.4(PEX16):c.276G>C (p.Val92=)
|
|
|
NM_004813.4(PEX16):c.293T>C (p.Met98Thr)
|
rs755886932
|
|
NM_004813.4(PEX16):c.303C>A (p.Ala101=)
|
rs80275010
|
|
NM_004813.4(PEX16):c.306G>A (p.Lys102=)
|
|
|
NM_004813.4(PEX16):c.306G>C (p.Lys102Asn)
|
rs2134696027
|
|
NM_004813.4(PEX16):c.307G>C (p.Val103Leu)
|
rs11553094
|
|
NM_004813.4(PEX16):c.310T>C (p.Trp104Arg)
|
|
|
NM_004813.4(PEX16):c.311G>A (p.Trp104Ter)
|
|
|
NM_004813.4(PEX16):c.312G>A (p.Trp104Ter)
|
|
|
NM_004813.4(PEX16):c.319G>A (p.Val107Met)
|
|
|
NM_004813.4(PEX16):c.324C>T (p.Gly108=)
|
rs2134695939
|
|
NM_004813.4(PEX16):c.334G>A (p.Val112Ile)
|
|
|
NM_004813.4(PEX16):c.339C>A (p.Ile113=)
|
rs947543439
|
|
NM_004813.4(PEX16):c.339C>T (p.Ile113=)
|
|
|
NM_004813.4(PEX16):c.345_346delinsTA (p.Val116Ile)
|
rs2134695847
|
|
NM_004813.4(PEX16):c.346= (p.Val116=)
|
|
|
NM_004813.4(PEX16):c.348C>T (p.Val116=)
|
rs886048328
|
|
NM_004813.4(PEX16):c.34C>A (p.Gln12Lys)
|
rs2086854813
|
|
NM_004813.4(PEX16):c.357C>T (p.Ala119=)
|
rs2134695800
|
|
NM_004813.4(PEX16):c.359+13del
|
rs775047767
|
|
NM_004813.4(PEX16):c.359+14G>T
|
|
|
NM_004813.4(PEX16):c.359+15T>C
|
|
|
NM_004813.4(PEX16):c.359+16G>A
|
|
|
NM_004813.4(PEX16):c.359+1G>A
|
|
|
NM_004813.4(PEX16):c.359+7dup
|
|
|
NM_004813.4(PEX16):c.359A>T (p.Lys120Met)
|
rs1431364536
|
|
NM_004813.4(PEX16):c.360-11C>A
|
rs778867878
|
|
NM_004813.4(PEX16):c.360-11C>T
|
|
|
NM_004813.4(PEX16):c.360-13C>T
|
rs373733086
|
|
NM_004813.4(PEX16):c.360-15T>C
|
|
|
NM_004813.4(PEX16):c.360-16A>C
|
|
|
NM_004813.4(PEX16):c.360-17C>T
|
|
|
NM_004813.4(PEX16):c.360-18A>G
|
|
|
NM_004813.4(PEX16):c.360-6A>T
|
|
|
NM_004813.4(PEX16):c.360-9C>A
|
rs1316866259
|
|
NM_004813.4(PEX16):c.369G>A (p.Leu123=)
|
|
|
NM_004813.4(PEX16):c.370C>A (p.Arg124=)
|
|
|
NM_004813.4(PEX16):c.379C>T (p.Leu127=)
|
|
|
NM_004813.4(PEX16):c.387C>G (p.Leu129=)
|
|
|
NM_004813.4(PEX16):c.389G>C (p.Trp130Ser)
|
|
|
NM_004813.4(PEX16):c.418C>A (p.Pro140Thr)
|
rs749891033
|
|
NM_004813.4(PEX16):c.418C>G (p.Pro140Ala)
|
rs749891033
|
|
NM_004813.4(PEX16):c.419C>A (p.Pro140His)
|
|
|
NM_004813.4(PEX16):c.421A>C (p.Ile141Leu)
|
rs761426585
|
|
NM_004813.4(PEX16):c.424G>A (p.Val142Ile)
|
|
|
NM_004813.4(PEX16):c.430C>T (p.Leu144=)
|
|
|
NM_004813.4(PEX16):c.437G>A (p.Arg146Lys)
|
|
|
NM_004813.4(PEX16):c.438A>G (p.Arg146=)
|
|
|
NM_004813.4(PEX16):c.442A>T (p.Thr148Ser)
|
|
|
NM_004813.4(PEX16):c.446dup (p.Ala150fs)
|
rs2134695309
|
|
NM_004813.4(PEX16):c.454C>A (p.Pro152Thr)
|
rs1357832796
|
|
NM_004813.4(PEX16):c.459G>A (p.Pro153=)
|
rs377135763
|
|
NM_004813.4(PEX16):c.460+16A>C
|
|
|
NM_004813.4(PEX16):c.460+17A>G
|
rs1292913105
|
|
NM_004813.4(PEX16):c.460+19C>T
|
|
|
NM_004813.4(PEX16):c.460+3G>A
|
|
|
NM_004813.4(PEX16):c.460+5G>A
|
rs2134695257
|
|
NM_004813.4(PEX16):c.460+9C>T
|
|
|
NM_004813.4(PEX16):c.461-11A>G
|
rs1297070831
|
|
NM_004813.4(PEX16):c.461-12_461-9del
|
|
|
NM_004813.4(PEX16):c.461-15G>A
|
|
|
NM_004813.4(PEX16):c.461-15G>T
|
|
|
NM_004813.4(PEX16):c.461-16T>C
|
|
|
NM_004813.4(PEX16):c.461-17C>A
|
|
|
NM_004813.4(PEX16):c.461-6T>A
|
|
|
NM_004813.4(PEX16):c.461-9C>G
|
|
|
NM_004813.4(PEX16):c.461-9C>T
|
rs753312075
|
|
NM_004813.4(PEX16):c.462T>C (p.Asp154=)
|
|
|
NM_004813.4(PEX16):c.463G>A (p.Gly155Ser)
|
rs2134693988
|
|
NM_004813.4(PEX16):c.464G>A (p.Gly155Asp)
|
|
|
NM_004813.4(PEX16):c.468C>T (p.Asp156=)
|
|
|
NM_004813.4(PEX16):c.469C>A (p.His157Asn)
|
rs2134693966
|
|
NM_004813.4(PEX16):c.471C>T (p.His157=)
|
rs2134693951
|
|
NM_004813.4(PEX16):c.485A>G (p.His162Arg)
|
|
|
NM_004813.4(PEX16):c.488A>G (p.Glu163Gly)
|
|
|
NM_004813.4(PEX16):c.489G>A (p.Glu163=)
|
|
|
NM_004813.4(PEX16):c.492G>A (p.Gln164=)
|
|
|
NM_004813.4(PEX16):c.493T>C (p.Ser165Pro)
|
|
|
NM_004813.4(PEX16):c.494C>A (p.Ser165Tyr)
|
rs2086814861
|
|
NM_004813.4(PEX16):c.512C>A (p.Ser171Ter)
|
|
|
NM_004813.4(PEX16):c.525G>A (p.Val175=)
|
rs936507537
|
|
NM_004813.4(PEX16):c.527G>A (p.Arg176Gln)
|
|
|
NM_004813.4(PEX16):c.534C>G (p.Leu178=)
|
rs2134693776
|
|
NM_004813.4(PEX16):c.535C>T (p.Gln179Ter)
|
|
|
NM_004813.4(PEX16):c.540C>G (p.Asn180Lys)
|
rs886048327
|
|
NM_004813.4(PEX16):c.541+10G>T
|
rs1377019967
|
|
NM_004813.4(PEX16):c.541+12A>T
|
|
|
NM_004813.4(PEX16):c.541+14G>A
|
|
|
NM_004813.4(PEX16):c.541+15T>A
|
rs2134693722
|
|
NM_004813.4(PEX16):c.541+15T>C
|
|
|
NM_004813.4(PEX16):c.541+20G>A
|
|
|
NM_004813.4(PEX16):c.541+8G>A
|
rs1565081217
|
|
NM_004813.4(PEX16):c.542-12C>A
|
|
|
NM_004813.4(PEX16):c.542-12C>G
|
|
|
NM_004813.4(PEX16):c.542-15G>A
|
|
|
NM_004813.4(PEX16):c.542-20C>T
|
|
|
NM_004813.4(PEX16):c.549C>A (p.Ser183=)
|
|
|
NM_004813.4(PEX16):c.549C>T (p.Ser183=)
|
|
|
NM_004813.4(PEX16):c.54C>T (p.His18=)
|
|
|
NM_004813.4(PEX16):c.554A>G (p.His185Arg)
|
rs751814237
|
|
NM_004813.4(PEX16):c.564C>T (p.His188=)
|
|
|
NM_004813.4(PEX16):c.574C>T (p.Pro192Ser)
|
|
|
NM_004813.4(PEX16):c.57G>A (p.Pro19=)
|
|
|
NM_004813.4(PEX16):c.584G>A (p.Arg195Gln)
|
|
|
NM_004813.4(PEX16):c.584G>T (p.Arg195Leu)
|
|
|
NM_004813.4(PEX16):c.585G>A (p.Arg195=)
|
|
|
NM_004813.4(PEX16):c.58del (p.Ala20fs)
|
|
|
NM_004813.4(PEX16):c.594G>A (p.Arg198=)
|
|
|
NM_004813.4(PEX16):c.595C>A (p.Gln199Lys)
|
rs770726448
|
|
NM_004813.4(PEX16):c.595C>T (p.Gln199Ter)
|
|
|
NM_004813.4(PEX16):c.599A>G (p.Gln200Arg)
|
rs772953974
|
|
NM_004813.4(PEX16):c.600G>A (p.Gln200=)
|
rs769604713
|
|
NM_004813.4(PEX16):c.603G>A (p.Gln201=)
|
|
|
NM_004813.4(PEX16):c.618G>A (p.Leu206=)
|
|
|
NM_004813.4(PEX16):c.627C>T (p.Thr209=)
|
|
|
NM_004813.4(PEX16):c.628C>T (p.Pro210Ser)
|
rs754114296
|
|
NM_004813.4(PEX16):c.630C>T (p.Pro210=)
|
|
|
NM_004813.4(PEX16):c.633C>A (p.Thr211=)
|
|
|
NM_004813.4(PEX16):c.633C>G (p.Thr211=)
|
|
|
NM_004813.4(PEX16):c.635C>T (p.Pro212Leu)
|
|
|
NM_004813.4(PEX16):c.636C>A (p.Pro212=)
|
|
|
NM_004813.4(PEX16):c.636C>G (p.Pro212=)
|
|
|
NM_004813.4(PEX16):c.637C>G (p.Leu213Val)
|
|
|
NM_004813.4(PEX16):c.643C>T (p.Leu215=)
|
|
|
NM_004813.4(PEX16):c.649_651del (p.Glu217del)
|
rs1403262719
|
|
NM_004813.4(PEX16):c.651G>T (p.Glu217Asp)
|
rs761544516
|
|
NM_004813.4(PEX16):c.653C>A (p.Thr218Asn)
|
|
|
NM_004813.4(PEX16):c.654C>T (p.Thr218=)
|
|
|
NM_004813.4(PEX16):c.659C>T (p.Ala220Val)
|
rs2134692997
|
|
NM_004813.4(PEX16):c.65_71del (p.Thr22fs)
|
rs2134699707
|
|
NM_004813.4(PEX16):c.666T>C (p.Phe222=)
|
|
|
NM_004813.4(PEX16):c.672C>T (p.Tyr224=)
|
rs746173483
|
|
NM_004813.4(PEX16):c.673A>G (p.Ile225Val)
|
|
|
NM_004813.4(PEX16):c.675T>C (p.Ile225=)
|
|
|
NM_004813.4(PEX16):c.679C>G (p.Arg227Gly)
|
|
|
NM_004813.4(PEX16):c.681G>A (p.Arg227=)
|
|
|
NM_004813.4(PEX16):c.684G>C (p.Pro228=)
|
|
|
NM_004813.4(PEX16):c.684G>T (p.Pro228=)
|
|
|
NM_004813.4(PEX16):c.685C>T (p.Leu229=)
|
|
|
NM_004813.4(PEX16):c.686T>C (p.Leu229Pro)
|
|
|
NM_004813.4(PEX16):c.688C>T (p.Leu230=)
|
rs2134692881
|
|
NM_004813.4(PEX16):c.694+13C>T
|
rs763001456
|
|
NM_004813.4(PEX16):c.694+17del
|
rs775951837
|
|
NM_004813.4(PEX16):c.694+1G>A
|
rs2134692847
|
|
NM_004813.4(PEX16):c.694+20G>A
|
rs2134692802
|
|
NM_004813.4(PEX16):c.694+6C>A
|
rs2134692834
|
|
NM_004813.4(PEX16):c.694+7T>A
|
rs2134692830
|
|
NM_004813.4(PEX16):c.695-13C>A
|
|
|
NM_004813.4(PEX16):c.695-14G>A
|
|
|
NM_004813.4(PEX16):c.695-18dup
|
|
|
NM_004813.4(PEX16):c.695-4T>C
|
|
|
NM_004813.4(PEX16):c.695-7C>T
|
|
|
NM_004813.4(PEX16):c.699C>G (p.Leu233=)
|
|
|
NM_004813.4(PEX16):c.700A>G (p.Ser234Gly)
|
|
|
NM_004813.4(PEX16):c.703C>G (p.Leu235Val)
|
rs765315257
|
|
NM_004813.4(PEX16):c.703C>T (p.Leu235=)
|
|
|
NM_004813.4(PEX16):c.705G>C (p.Leu235=)
|
|
|
NM_004813.4(PEX16):c.706G>C (p.Gly236Arg)
|
rs757071504
|
|
NM_004813.4(PEX16):c.707G>T (p.Gly236Val)
|
rs2134692571
|
|
NM_004813.4(PEX16):c.714G>A (p.Trp238Ter)
|
|
|
NM_004813.4(PEX16):c.714G>C (p.Trp238Cys)
|
|
|
NM_004813.4(PEX16):c.716G>A (p.Gly239Asp)
|
|
|
NM_004813.4(PEX16):c.718C>T (p.Gln240Ter)
|
rs2134692559
|
|
NM_004813.4(PEX16):c.726G>T (p.Ser242=)
|
rs200414298
|
|
NM_004813.4(PEX16):c.729G>A (p.Trp243Ter)
|
|
|
NM_004813.4(PEX16):c.732A>G (p.Lys244=)
|
|
|
NM_004813.4(PEX16):c.735C>G (p.Pro245=)
|
|
|
NM_004813.4(PEX16):c.737G>A (p.Trp246Ter)
|
rs2086807269
|
|
NM_004813.4(PEX16):c.740T>C (p.Leu247Pro)
|
rs2086807248
|
|
NM_004813.4(PEX16):c.742T>C (p.Leu248=)
|
|
|
NM_004813.4(PEX16):c.760G>A (p.Val254Met)
|
rs35214605
|
|
NM_004813.4(PEX16):c.767+14T>C
|
|
|
NM_004813.4(PEX16):c.767+15G>C
|
rs770254589
|
|
NM_004813.4(PEX16):c.767+15G>T
|
|
|
NM_004813.4(PEX16):c.767+16C>T
|
|
|
NM_004813.4(PEX16):c.767+20G>A
|
|
|
NM_004813.4(PEX16):c.767+20G>T
|
|
|
NM_004813.4(PEX16):c.767+7_767+10dup
|
|
|
NM_004813.4(PEX16):c.767+8T>C
|
|
|
NM_004813.4(PEX16):c.768-14T>A
|
|
|
NM_004813.4(PEX16):c.768-15C>T
|
rs1198116131
|
|
NM_004813.4(PEX16):c.768-18G>A
|
rs374677338
|
|
NM_004813.4(PEX16):c.768-18G>T
|
rs374677338
|
|
NM_004813.4(PEX16):c.768-20_768-18del
|
|
|
NM_004813.4(PEX16):c.768-8C>A
|
|
|
NM_004813.4(PEX16):c.771G>A (p.Leu257=)
|
|
|
NM_004813.4(PEX16):c.774C>T (p.Ser258=)
|
rs1031968916
|
|
NM_004813.4(PEX16):c.778C>A (p.Leu260Met)
|
|
|
NM_004813.4(PEX16):c.778C>T (p.Leu260=)
|
|
|
NM_004813.4(PEX16):c.783T>A (p.Ser261Arg)
|
|
|
NM_004813.4(PEX16):c.784G>A (p.Asp262Asn)
|
rs2134692005
|
|
NM_004813.4(PEX16):c.786C>T (p.Asp262=)
|
|
|
NM_004813.4(PEX16):c.792G>A (p.Lys264=)
|
|
|
NM_004813.4(PEX16):c.796C>T (p.Leu266=)
|
rs2134691972
|
|
NM_004813.4(PEX16):c.798G>A (p.Leu266=)
|
|
|
NM_004813.4(PEX16):c.801C>G (p.Thr267=)
|
|
|
NM_004813.4(PEX16):c.805A>G (p.Arg269Gly)
|
rs1202074085
|
|
NM_004813.4(PEX16):c.805_813dup (p.268RRE[3])
|
rs746516702
|
|
NM_004813.4(PEX16):c.807G>A (p.Arg269=)
|
|
|
NM_004813.4(PEX16):c.810G>A (p.Glu270=)
|
|
|
NM_004813.4(PEX16):c.810G>T (p.Glu270Asp)
|
|
|
NM_004813.4(PEX16):c.815G>A (p.Arg272Gln)
|
rs780754678
|
|
NM_004813.4(PEX16):c.817G>T (p.Glu273Ter)
|
|
|
NM_004813.4(PEX16):c.821T>C (p.Leu274Pro)
|
rs2134691868
|
|
NM_004813.4(PEX16):c.824G>A (p.Arg275Gln)
|
rs1383363053
|
|
NM_004813.4(PEX16):c.825G>A (p.Arg275=)
|
|
|
NM_004813.4(PEX16):c.825G>C (p.Arg275=)
|
rs965837945
|
|
NM_004813.4(PEX16):c.825G>T (p.Arg275=)
|
|
|
NM_004813.4(PEX16):c.826C>T (p.Arg276Cys)
|
rs762568886
|
|
NM_004813.4(PEX16):c.827G>A (p.Arg276His)
|
rs1420647698
|
|
NM_004813.4(PEX16):c.828C>T (p.Arg276=)
|
|
|
NM_004813.4(PEX16):c.829C>T (p.Arg277Trp)
|
|
|
NM_004813.4(PEX16):c.834C>T (p.Thr278=)
|
|
|
NM_004813.4(PEX16):c.855G>C (p.Leu285=)
|
|
|
NM_004813.4(PEX16):c.860G>A (p.Arg287His)
|
|
|
NM_004813.4(PEX16):c.861C>T (p.Arg287=)
|
rs747883612
|
|
NM_004813.4(PEX16):c.865C>G (p.Pro289Ala)
|
|
|
NM_004813.4(PEX16):c.86T>G (p.Val29Gly)
|
rs2134699660
|
|
NM_004813.4(PEX16):c.873_874delinsCT (p.Asp292Tyr)
|
|
|
NM_004813.4(PEX16):c.873_874inv (p.Asp292Asn)
|
|
|
NM_004813.4(PEX16):c.877C>A (p.Arg293Ser)
|
rs544053792
|
|
NM_004813.4(PEX16):c.878G>A (p.Arg293His)
|
|
|
NM_004813.4(PEX16):c.887+10C>T
|
|
|
NM_004813.4(PEX16):c.887+14A>G
|
|
|
NM_004813.4(PEX16):c.887+2T>G
|
rs2134691627
|
|
NM_004813.4(PEX16):c.887+8C>T
|
|
|
NM_004813.4(PEX16):c.887A>G (p.Glu296Gly)
|
rs2134691628
|
|
NM_004813.4(PEX16):c.888-10C>T
|
|
|
NM_004813.4(PEX16):c.888-11G>C
|
|
|
NM_004813.4(PEX16):c.888-12T>G
|
rs1565079258
|
|
NM_004813.4(PEX16):c.888-14A>G
|
|
|
NM_004813.4(PEX16):c.888-17T>C
|
|
|
NM_004813.4(PEX16):c.888-1G>C
|
|
|
NM_004813.4(PEX16):c.888-2A>C
|
rs2086772786
|
|
NM_004813.4(PEX16):c.888-3C>A
|
|
|
NM_004813.4(PEX16):c.888-3dup
|
rs2134686844
|
|
NM_004813.4(PEX16):c.888-9C>A
|
|
|
NM_004813.4(PEX16):c.891C>G (p.Ala297=)
|
|
|
NM_004813.4(PEX16):c.891C>T (p.Ala297=)
|
rs2086772585
|
|
NM_004813.4(PEX16):c.897C>T (p.Ile299=)
|
|
|
NM_004813.4(PEX16):c.900C>T (p.Leu300=)
|
|
|
NM_004813.4(PEX16):c.903C>T (p.Phe301=)
|
|
|
NM_004813.4(PEX16):c.906G>C (p.Leu302=)
|
rs2086772343
|
|
NM_004813.4(PEX16):c.912G>C (p.Gln304His)
|
|
|
NM_004813.4(PEX16):c.913T>C (p.Leu305=)
|
|
|
NM_004813.4(PEX16):c.918G>A (p.Leu306=)
|
|
|
NM_004813.4(PEX16):c.918G>C (p.Leu306=)
|
rs753109224
|
|
NM_004813.4(PEX16):c.919G>A (p.Ala307Thr)
|
|
|
NM_004813.4(PEX16):c.921C>G (p.Ala307=)
|
|
|
NM_004813.4(PEX16):c.922G>A (p.Asp308Asn)
|
rs749785179
|
|
NM_004813.4(PEX16):c.922G>C (p.Asp308His)
|
rs749785179
|
|
NM_004813.4(PEX16):c.923A>T (p.Asp308Val)
|
|
|
NM_004813.4(PEX16):c.927C>T (p.His309=)
|
|
|
NM_004813.4(PEX16):c.928G>A (p.Val310Ile)
|
rs771392114
|
|
NM_004813.4(PEX16):c.933T>A (p.Pro311=)
|
|
|
NM_004813.4(PEX16):c.933T>G (p.Pro311=)
|
|
|
NM_004813.4(PEX16):c.935G>T (p.Gly312Val)
|
|
|
NM_004813.4(PEX16):c.936C>G (p.Gly312=)
|
|
|
NM_004813.4(PEX16):c.936C>T (p.Gly312=)
|
|
|
NM_004813.4(PEX16):c.93C>T (p.Gly31=)
|
|
|
NM_004813.4(PEX16):c.942C>A (p.Gly314=)
|
|
|
NM_004813.4(PEX16):c.942C>T (p.Gly314=)
|
|
|
NM_004813.4(PEX16):c.945G>A (p.Leu315=)
|
rs2086770676
|
|
NM_004813.4(PEX16):c.945G>C (p.Leu315=)
|
|
|
NM_004813.4(PEX16):c.948C>T (p.Val316=)
|
|
|
NM_004813.4(PEX16):c.952+10G>A
|
rs989867106
|
|
NM_004813.4(PEX16):c.952+118_*82del
|
|
|
NM_004813.4(PEX16):c.952+12T>C
|
|
|
NM_004813.4(PEX16):c.952+15G>T
|
rs778357573
|
|
NM_004813.4(PEX16):c.952+19G>C
|
|
|
NM_004813.4(PEX16):c.952+19G>T
|
|
|
NM_004813.4(PEX16):c.952+20C>G
|
|
|
NM_004813.4(PEX16):c.952+20_952+21del
|
rs541010446
|
|
NM_004813.4(PEX16):c.952+2T>C
|
rs267608185
|
|
NM_004813.4(PEX16):c.952+3A>C
|
rs2134686616
|
|
NM_004813.4(PEX16):c.952+3A>G
|
|
|
NM_004813.4(PEX16):c.952+6C>T
|
|
|
NM_004813.4(PEX16):c.952+9G>A
|
|
|
NM_004813.4(PEX16):c.953-12C>G
|
|
|
NM_004813.4(PEX16):c.953-12C>T
|
|
|
NM_004813.4(PEX16):c.953-15C>T
|
|
|
NM_004813.4(PEX16):c.953-20G>A
|
|
|
NM_004813.4(PEX16):c.953-4G>T
|
|
|
NM_004813.4(PEX16):c.953-5T>A
|
|
|
NM_004813.4(PEX16):c.953-8C>T
|
|
|
NM_004813.4(PEX16):c.953-9C>T
|
|
|
NM_004813.4(PEX16):c.960_961del (p.Met321fs)
|
rs2134685523
|
|
NM_004813.4(PEX16):c.961A>G (p.Met321Val)
|
|
|
NM_004813.4(PEX16):c.966T>C (p.Asp322=)
|
|
|
NM_004813.4(PEX16):c.972G>A (p.Leu324=)
|
|
|
NM_004813.4(PEX16):c.975C>T (p.Pro325=)
|
rs2134685494
|
|
NM_004813.4(PEX16):c.978C>G (p.Thr326=)
|
|
|
NM_004813.4(PEX16):c.984del (p.Ile330fs)
|
rs1590793006
|
|
NM_004813.4(PEX16):c.98G>C (p.Ser33Thr)
|
|
|
NM_004813.4(PEX16):c.992A>G (p.Tyr331Cys)
|
rs397514472
|
|
NM_004813.4(PEX16):c.994_999del (p.Phe332_Tyr333del)
|
|
|
NM_004813.4(PEX16):c.995_997del (p.Phe332del)
|
rs797045062
|
|
NM_004813.4(PEX16):c.997T>C (p.Tyr333His)
|
|
|