NM_004565.3(PEX14):c.169+34A>G
|
rs2480779
|
0.95850
|
NM_004565.3(PEX14):c.84+8231A>G
|
rs10864459
|
0.59806
|
NM_004565.3(PEX14):c.84+10837A>G
|
rs616488
|
0.27206
|
NM_004565.3(PEX14):c.156C>T (p.Phe52=)
|
rs12375
|
0.25602
|
NM_004565.3(PEX14):c.384+14A>T
|
rs284238
|
0.19360
|
NM_004565.3(PEX14):c.1032G>T (p.Gly344=)
|
rs11539794
|
0.13336
|
NM_004565.3(PEX14):c.1014C>T (p.Asp338=)
|
rs2128414
|
0.04291
|
NM_004565.3(PEX14):c.475G>A (p.Val159Met)
|
rs74052157
|
0.02375
|
NM_004565.3(PEX14):c.768G>A (p.Val256=)
|
rs36083022
|
0.01070
|
NM_004565.3(PEX14):c.959G>A (p.Arg320Lys)
|
rs12070353
|
0.00912
|
NM_004565.3(PEX14):c.213C>G (p.Gly71=)
|
rs41274482
|
0.00899
|
NM_004565.3(PEX14):c.873C>T (p.His291=)
|
rs115117459
|
0.00516
|
NM_004565.3(PEX14):c.795A>G (p.Ser265=)
|
rs41274484
|
0.00451
|
NM_004565.3(PEX14):c.349G>T (p.Ala117Ser)
|
rs12061667
|
0.00324
|
NM_004565.3(PEX14):c.299-16C>T
|
rs201545377
|
0.00297
|
NM_004565.3(PEX14):c.170-13C>T
|
rs182967518
|
0.00222
|
NM_004565.3(PEX14):c.825G>A (p.Ser275=)
|
rs143412169
|
0.00179
|
NM_004565.3(PEX14):c.*576A>G
|
rs530124005
|
0.00170
|
NM_004565.3(PEX14):c.36+8G>A
|
rs200154696
|
0.00107
|
NM_004565.3(PEX14):c.208T>G (p.Ser70Ala)
|
rs77261230
|
0.00105
|
NM_004565.3(PEX14):c.267C>G (p.Val89=)
|
rs146359055
|
0.00097
|
NM_004565.3(PEX14):c.602A>G (p.Asn201Ser)
|
rs142285791
|
0.00083
|
NM_004565.3(PEX14):c.29C>G (p.Pro10Arg)
|
rs12068754
|
0.00080
|
NM_004565.3(PEX14):c.1116C>T (p.Asn372=)
|
rs149856184
|
0.00066
|
NM_004565.3(PEX14):c.474C>A (p.Ser158Arg)
|
rs145867351
|
0.00057
|
NM_004565.3(PEX14):c.384+17G>A
|
rs199913711
|
0.00048
|
NM_004565.3(PEX14):c.78G>A (p.Glu26=)
|
rs144664869
|
0.00047
|
NM_004565.3(PEX14):c.1098G>T (p.Arg366=)
|
rs139610784
|
0.00029
|
NM_004565.3(PEX14):c.416G>A (p.Arg139Gln)
|
rs147683525
|
0.00029
|
NM_004565.3(PEX14):c.451G>A (p.Gly151Ser)
|
rs145888212
|
0.00029
|
NM_004565.3(PEX14):c.84+17T>C
|
rs373584636
|
0.00024
|
NM_004565.3(PEX14):c.360A>G (p.Ala120=)
|
rs148479162
|
0.00021
|
NM_004565.3(PEX14):c.400C>G (p.Leu134Val)
|
rs140476337
|
0.00021
|
NM_004565.3(PEX14):c.18G>C (p.Gln6His)
|
rs200395336
|
0.00019
|
NM_004565.3(PEX14):c.222C>T (p.Ala74=)
|
rs147043673
|
0.00019
|
NM_004565.3(PEX14):c.169+7G>C
|
rs376989411
|
0.00018
|
NM_004565.3(PEX14):c.303C>T (p.Pro101=)
|
rs199552789
|
0.00014
|
NM_004565.3(PEX14):c.1101C>T (p.Pro367=)
|
rs146053705
|
0.00013
|
NM_004565.3(PEX14):c.381C>T (p.Tyr127=)
|
rs372630614
|
0.00013
|
NM_004565.3(PEX14):c.*369A>G
|
rs977546775
|
0.00012
|
NM_004565.3(PEX14):c.693A>G (p.Pro231=)
|
rs145899844
|
0.00011
|
NM_004565.3(PEX14):c.993T>G (p.Asp331Glu)
|
rs79954820
|
0.00011
|
NM_004565.3(PEX14):c.818C>T (p.Ser273Leu)
|
rs149801951
|
0.00010
|
NM_004565.3(PEX14):c.298+11C>T
|
rs368265465
|
0.00009
|
NM_004565.3(PEX14):c.766G>A (p.Val256Met)
|
rs143378690
|
0.00009
|
NM_004565.3(PEX14):c.884C>A (p.Pro295His)
|
rs545357144
|
0.00009
|
NM_004565.3(PEX14):c.84G>A (p.Leu28=)
|
rs551147900
|
0.00008
|
NM_004565.3(PEX14):c.1013A>G (p.Asp338Gly)
|
rs201120958
|
0.00007
|
NM_004565.3(PEX14):c.1107C>T (p.Gly369=)
|
rs781098256
|
0.00007
|
NM_004565.3(PEX14):c.26A>T (p.Gln9Leu)
|
rs201979629
|
0.00006
|
NM_004565.3(PEX14):c.274C>G (p.Pro92Ala)
|
rs199525137
|
0.00006
|
NM_004565.3(PEX14):c.298+12G>A
|
rs572650599
|
0.00006
|
NM_004565.3(PEX14):c.36+10G>A
|
rs780024607
|
0.00006
|
NM_004565.3(PEX14):c.84+20G>T
|
rs377686703
|
0.00006
|
NM_004565.3(PEX14):c.911A>T (p.Asp304Val)
|
rs199860518
|
0.00006
|
NM_004565.3(PEX14):c.1074C>T (p.Asn358=)
|
rs765001984
|
0.00005
|
NM_004565.3(PEX14):c.299-6C>T
|
rs764273994
|
0.00005
|
NM_004565.3(PEX14):c.299-9C>T
|
rs531729105
|
0.00005
|
NM_004565.3(PEX14):c.36+20C>T
|
rs376946441
|
0.00005
|
NM_004565.3(PEX14):c.412G>A (p.Gly138Ser)
|
rs376462571
|
0.00005
|
NM_004565.3(PEX14):c.465G>A (p.Leu155=)
|
rs371111233
|
0.00005
|
NM_004565.3(PEX14):c.699A>C (p.Pro233=)
|
rs758943034
|
0.00005
|
NM_004565.3(PEX14):c.819G>A (p.Ser273=)
|
rs139518305
|
0.00005
|
NM_004565.3(PEX14):c.990G>T (p.Glu330Asp)
|
rs145761201
|
0.00005
|
NM_004565.3(PEX14):c.1126C>T (p.Arg376Trp)
|
rs765354583
|
0.00004
|
NM_004565.3(PEX14):c.112A>G (p.Asn38Asp)
|
rs940853094
|
0.00004
|
NM_004565.3(PEX14):c.297C>T (p.Tyr99=)
|
rs371473184
|
0.00004
|
NM_004565.3(PEX14):c.320G>A (p.Arg107Gln)
|
rs774125017
|
0.00004
|
NM_004565.3(PEX14):c.330C>T (p.Gly110=)
|
rs772527603
|
0.00004
|
NM_004565.3(PEX14):c.399C>G (p.Pro133=)
|
rs147609213
|
0.00004
|
NM_004565.3(PEX14):c.762G>A (p.Ala254=)
|
rs572037966
|
0.00004
|
NM_004565.3(PEX14):c.860C>T (p.Thr287Met)
|
rs376758920
|
0.00004
|
NM_004565.3(PEX14):c.882C>G (p.Gly294=)
|
rs928631810
|
0.00004
|
NM_004565.3(PEX14):c.93G>A (p.Thr31=)
|
rs139797106
|
0.00004
|
NM_004565.3(PEX14):c.975C>T (p.Asp325=)
|
rs754716817
|
0.00004
|
NM_004565.3(PEX14):c.996T>C (p.Asp332=)
|
rs201978719
|
0.00004
|
NM_004565.3(PEX14):c.*564C>T
|
rs561807671
|
0.00003
|
NM_004565.3(PEX14):c.*7G>T
|
rs367982022
|
0.00003
|
NM_004565.3(PEX14):c.1112G>A (p.Ser371Asn)
|
rs1029768863
|
0.00003
|
NM_004565.3(PEX14):c.118C>T (p.Arg40Trp)
|
rs770183471
|
0.00003
|
NM_004565.3(PEX14):c.304G>A (p.Ala102Thr)
|
rs753731034
|
0.00003
|
NM_004565.3(PEX14):c.744G>A (p.Pro248=)
|
rs145103775
|
0.00003
|
NM_004565.3(PEX14):c.807C>T (p.Asn269=)
|
rs757658916
|
0.00003
|
NM_004565.3(PEX14):c.855C>G (p.Gly285=)
|
rs201107513
|
0.00003
|
NM_004565.3(PEX14):c.925G>T (p.Val309Leu)
|
rs764272265
|
0.00003
|
NM_004565.3(PEX14):c.945C>T (p.Gly315=)
|
rs560264914
|
0.00003
|
NM_004565.3(PEX14):c.1128G>C (p.Arg376=)
|
rs772300180
|
0.00002
|
NM_004565.3(PEX14):c.14A>G (p.Glu5Gly)
|
rs932921080
|
0.00002
|
NM_004565.3(PEX14):c.170-4C>A
|
rs764907398
|
0.00002
|
NM_004565.3(PEX14):c.210G>A (p.Ser70=)
|
rs755185539
|
0.00002
|
NM_004565.3(PEX14):c.327C>T (p.Tyr109=)
|
rs367754543
|
0.00002
|
NM_004565.3(PEX14):c.36+16C>T
|
rs749238226
|
0.00002
|
NM_004565.3(PEX14):c.786C>T (p.Ser262=)
|
rs1286463670
|
0.00002
|
NM_004565.3(PEX14):c.824C>T (p.Ser275Leu)
|
rs727504081
|
0.00002
|
NM_004565.3(PEX14):c.834G>A (p.Lys278=)
|
rs771862572
|
0.00002
|
NM_004565.3(PEX14):c.84+12A>G
|
rs1351156937
|
0.00002
|
NM_004565.3(PEX14):c.849C>T (p.Pro283=)
|
rs752909373
|
0.00002
|
NM_004565.3(PEX14):c.85-8C>T
|
rs778964302
|
0.00002
|
NM_004565.3(PEX14):c.897C>T (p.Gly299=)
|
rs747580093
|
0.00002
|
NM_004565.3(PEX14):c.931A>T (p.Met311Leu)
|
rs761789278
|
0.00002
|
NM_004565.3(PEX14):c.9C>T (p.Ser3=)
|
rs1476050374
|
0.00002
|
NM_004565.3(PEX14):c.*256A>G
|
rs373498478
|
0.00001
|
NM_004565.3(PEX14):c.*459T>C
|
rs954625667
|
0.00001
|
NM_004565.3(PEX14):c.1025G>A (p.Cys342Tyr)
|
rs774432688
|
0.00001
|
NM_004565.3(PEX14):c.1052G>A (p.Arg351Gln)
|
rs960056444
|
0.00001
|
NM_004565.3(PEX14):c.1056C>T (p.Gly352=)
|
rs372035480
|
0.00001
|
NM_004565.3(PEX14):c.1081G>A (p.Val361Met)
|
rs1041756834
|
0.00001
|
NM_004565.3(PEX14):c.1121G>A (p.Ser374Asn)
|
rs1305475145
|
0.00001
|
NM_004565.3(PEX14):c.124C>T (p.Arg42Cys)
|
rs540190684
|
0.00001
|
NM_004565.3(PEX14):c.12G>A (p.Ser4=)
|
rs1372422981
|
0.00001
|
NM_004565.3(PEX14):c.163A>C (p.Lys55Gln)
|
rs753472251
|
0.00001
|
NM_004565.3(PEX14):c.188T>C (p.Ile63Thr)
|
rs762505617
|
0.00001
|
NM_004565.3(PEX14):c.199T>C (p.Phe67Leu)
|
rs751540499
|
0.00001
|
NM_004565.3(PEX14):c.233C>T (p.Ser78Leu)
|
rs778315559
|
0.00001
|
NM_004565.3(PEX14):c.234G>A (p.Ser78=)
|
rs778634623
|
0.00001
|
NM_004565.3(PEX14):c.294A>G (p.Pro98=)
|
rs1459322335
|
0.00001
|
NM_004565.3(PEX14):c.30G>C (p.Pro10=)
|
rs1307415913
|
0.00001
|
NM_004565.3(PEX14):c.311C>T (p.Ser104Phe)
|
rs756523143
|
0.00001
|
NM_004565.3(PEX14):c.314G>A (p.Arg105Gln)
|
rs754085368
|
0.00001
|
NM_004565.3(PEX14):c.328G>A (p.Gly110Ser)
|
rs771702217
|
0.00001
|
NM_004565.3(PEX14):c.331G>A (p.Ala111Thr)
|
rs758492014
|
0.00001
|
NM_004565.3(PEX14):c.36+6G>T
|
rs369035854
|
0.00001
|
NM_004565.3(PEX14):c.37-14A>G
|
rs757529825
|
0.00001
|
NM_004565.3(PEX14):c.37-18T>C
|
rs1219479331
|
0.00001
|
NM_004565.3(PEX14):c.382A>G (p.Lys128Glu)
|
rs756676436
|
0.00001
|
NM_004565.3(PEX14):c.384+12C>T
|
rs1031904195
|
0.00001
|
NM_004565.3(PEX14):c.384+9C>T
|
rs780394337
|
0.00001
|
NM_004565.3(PEX14):c.385-19C>T
|
rs1355559186
|
0.00001
|
NM_004565.3(PEX14):c.411C>T (p.Gly137=)
|
rs775297789
|
0.00001
|
NM_004565.3(PEX14):c.41G>A (p.Ser14Asn)
|
rs1641538447
|
0.00001
|
NM_004565.3(PEX14):c.44C>G (p.Ser15Cys)
|
rs755705743
|
0.00001
|
NM_004565.3(PEX14):c.450C>T (p.Ala150=)
|
rs765794942
|
0.00001
|
NM_004565.3(PEX14):c.487+11A>T
|
rs745344543
|
0.00001
|
NM_004565.3(PEX14):c.643G>A (p.Glu215Lys)
|
rs1370410030
|
0.00001
|
NM_004565.3(PEX14):c.648T>G (p.Ile216Met)
|
rs756446450
|
0.00001
|
NM_004565.3(PEX14):c.677+11G>A
|
rs1472595799
|
0.00001
|
NM_004565.3(PEX14):c.708G>A (p.Pro236=)
|
rs776806278
|
0.00001
|
NM_004565.3(PEX14):c.77A>G (p.Glu26Gly)
|
rs1407518602
|
0.00001
|
NM_004565.3(PEX14):c.816G>A (p.Thr272=)
|
rs572028093
|
0.00001
|
NM_004565.3(PEX14):c.888G>T (p.Gln296His)
|
rs1358510161
|
0.00001
|
NM_004565.3(PEX14):c.896G>A (p.Gly299Asp)
|
rs140533305
|
0.00001
|
NM_004565.3(PEX14):c.900G>A (p.Glu300=)
|
rs772095912
|
0.00001
|
NM_004565.3(PEX14):c.902G>T (p.Gly301Val)
|
rs773005677
|
0.00001
|
NM_004565.3(PEX14):c.912C>T (p.Asp304=)
|
rs1202283239
|
0.00001
|
NM_004565.3(PEX14):c.981G>A (p.Glu327=)
|
rs41274486
|
0.00001
|
NC_000001.10:g.(?_10535024)_(10535079_?)del
|
|
|
NC_000001.10:g.(?_10535024)_(10535079_?)dup
|
|
|
NC_000001.10:g.(?_10535024)_(10596374_?)del
|
|
|
NC_000001.10:g.(?_10535024)_(10596374_?)dup
|
|
|
NC_000001.10:g.(?_10535024)_(10687440_?)del
|
|
|
NC_000001.10:g.(?_10555311)_(10555398_?)dup
|
|
|
NC_000001.10:g.(?_10687309)_(10687440_?)del
|
|
|
NG_008340.2:g.(25377_66267)_(66353_129292)del
|
|
|
NM_004565.2(PEX14):c.987_995dup (p.Asp331_Asp332insGluGluAsp)
|
rs1318692969
|
|
NM_004565.3(PEX14):c.*174C>T
|
rs886045018
|
|
NM_004565.3(PEX14):c.*400G>T
|
rs886045019
|
|
NM_004565.3(PEX14):c.*515C>T
|
rs886045020
|
|
NM_004565.3(PEX14):c.*570C>T
|
rs1641898212
|
|
NM_004565.3(PEX14):c.*616C>T
|
rs541842608
|
|
NM_004565.3(PEX14):c.*685A>T
|
rs1156589089
|
|
NM_004565.3(PEX14):c.*755del
|
rs548721184
|
|
NM_004565.3(PEX14):c.1000G>A (p.Val334Met)
|
rs2124650794
|
|
NM_004565.3(PEX14):c.1008T>C (p.His336=)
|
|
|
NM_004565.3(PEX14):c.1008T>G (p.His336Gln)
|
rs770817636
|
|
NM_004565.3(PEX14):c.1010T>C (p.Val337Ala)
|
rs1258983860
|
|
NM_004565.3(PEX14):c.1013_1014inv (p.Asp338Gly)
|
|
|
NM_004565.3(PEX14):c.1015G>A (p.Glu339Lys)
|
rs1570377732
|
|
NM_004565.3(PEX14):c.101A>G (p.Lys34Arg)
|
rs2124482101
|
|
NM_004565.3(PEX14):c.1020G>A (p.Glu340=)
|
|
|
NM_004565.3(PEX14):c.1024_1047del (p.Cys342_Asp349del)
|
rs749458457
|
|
NM_004565.3(PEX14):c.1030G>C (p.Gly344Arg)
|
|
|
NM_004565.3(PEX14):c.1032G>A (p.Gly344=)
|
rs11539794
|
|
NM_004565.3(PEX14):c.1033G>A (p.Val345Met)
|
|
|
NM_004565.3(PEX14):c.1035G>C (p.Val345=)
|
|
|
NM_004565.3(PEX14):c.1036C>A (p.Gln346Lys)
|
|
|
NM_004565.3(PEX14):c.1036C>G (p.Gln346Glu)
|
|
|
NM_004565.3(PEX14):c.1047C>T (p.Asp349=)
|
rs1285512085
|
|
NM_004565.3(PEX14):c.1048C>T (p.Arg350Cys)
|
rs1641869464
|
|
NM_004565.3(PEX14):c.1051C>T (p.Arg351Trp)
|
|
|
NM_004565.3(PEX14):c.1052G>C (p.Arg351Pro)
|
|
|
NM_004565.3(PEX14):c.1057G>A (p.Gly353Arg)
|
rs1641870710
|
|
NM_004565.3(PEX14):c.1068G>A (p.Gln356=)
|
|
|
NM_004565.3(PEX14):c.1083G>A (p.Val361=)
|
|
|
NM_004565.3(PEX14):c.1089G>A (p.Lys363=)
|
|
|
NM_004565.3(PEX14):c.108A>G (p.Leu36=)
|
rs2124482116
|
|
NM_004565.3(PEX14):c.1093C>T (p.Arg365Trp)
|
rs904521069
|
|
NM_004565.3(PEX14):c.109C>T (p.Gln37Ter)
|
|
|
NM_004565.3(PEX14):c.1108G>T (p.Ala370Ser)
|
rs1557443140
|
|
NM_004565.3(PEX14):c.1119G>C (p.Glu373Asp)
|
|
|
NM_004565.3(PEX14):c.1120A>C (p.Ser374Arg)
|
rs2124651161
|
|
NM_004565.3(PEX14):c.1120_1121del (p.Glu373_Ser374insTer)
|
rs2124651144
|
|
NM_004565.3(PEX14):c.1124A>C (p.Glu375Ala)
|
rs1337084727
|
|
NM_004565.3(PEX14):c.1131C>T (p.Asp377=)
|
rs2124651209
|
|
NM_004565.3(PEX14):c.119G>A (p.Arg40Gln)
|
rs573113329
|
|
NM_004565.3(PEX14):c.129G>A (p.Gln43=)
|
|
|
NM_004565.3(PEX14):c.133C>T (p.Pro45Ser)
|
|
|
NM_004565.3(PEX14):c.140C>A (p.Ala47Glu)
|
rs2124482219
|
|
NM_004565.3(PEX14):c.150A>G (p.Arg50=)
|
|
|
NM_004565.3(PEX14):c.154T>C (p.Phe52Leu)
|
rs2124482255
|
|
NM_004565.3(PEX14):c.15G>A (p.Glu5=)
|
|
|
NM_004565.3(PEX14):c.168A>G (p.Lys56=)
|
|
|
NM_004565.3(PEX14):c.169+12dup
|
|
|
NM_004565.3(PEX14):c.169+17G>A
|
rs758302680
|
|
NM_004565.3(PEX14):c.169+4C>T
|
|
|
NM_004565.3(PEX14):c.16C>G (p.Gln6Glu)
|
|
|
NM_004565.3(PEX14):c.190G>A (p.Asp64Asn)
|
rs535743906
|
|
NM_004565.3(PEX14):c.19G>A (p.Ala7Thr)
|
|
|
NM_004565.3(PEX14):c.204_298+125delinsTATTCCTT
|
|
|
NM_004565.3(PEX14):c.20C>T (p.Ala7Val)
|
rs759852702
|
|
NM_004565.3(PEX14):c.229C>T (p.Pro77Ser)
|
|
|
NM_004565.3(PEX14):c.22G>C (p.Glu8Gln)
|
rs2124356750
|
|
NM_004565.3(PEX14):c.236C>T (p.Ser79Phe)
|
|
|
NM_004565.3(PEX14):c.245C>T (p.Pro82Leu)
|
|
|
NM_004565.3(PEX14):c.247G>A (p.Ala83Thr)
|
rs1557866347
|
|
NM_004565.3(PEX14):c.252A>T (p.Thr84=)
|
|
|
NM_004565.3(PEX14):c.259G>A (p.Val87Ile)
|
|
|
NM_004565.3(PEX14):c.269A>G (p.Gln90Arg)
|
rs1640919599
|
|
NM_004565.3(PEX14):c.26A>G (p.Gln9Arg)
|
rs201979629
|
|
NM_004565.3(PEX14):c.271C>G (p.Pro91Ala)
|
rs2124602763
|
|
NM_004565.3(PEX14):c.279C>A (p.His93Gln)
|
rs1238733367
|
|
NM_004565.3(PEX14):c.281T>G (p.Leu94Arg)
|
|
|
NM_004565.3(PEX14):c.286T>G (p.Ser96Ala)
|
rs2124602826
|
|
NM_004565.3(PEX14):c.28C>T (p.Pro10Ser)
|
rs1007978005
|
|
NM_004565.3(PEX14):c.295T>C (p.Tyr99His)
|
rs2124602853
|
|
NM_004565.3(PEX14):c.298+10C>T
|
rs2124602884
|
|
NM_004565.3(PEX14):c.298+11C>G
|
|
|
NM_004565.3(PEX14):c.298+13C>T
|
|
|
NM_004565.3(PEX14):c.298+15C>G
|
rs2124602904
|
|
NM_004565.3(PEX14):c.298+17A>G
|
rs1312717612
|
|
NM_004565.3(PEX14):c.298+1G>C
|
|
|
NM_004565.3(PEX14):c.298+7C>T
|
rs1409481387
|
|
NM_004565.3(PEX14):c.299-11C>T
|
|
|
NM_004565.3(PEX14):c.299-19C>T
|
rs2124632871
|
|
NM_004565.3(PEX14):c.299-20C>T
|
|
|
NM_004565.3(PEX14):c.299-5_306del
|
|
|
NM_004565.3(PEX14):c.299-7C>T
|
|
|
NM_004565.3(PEX14):c.299-8G>A
|
rs112851814
|
|
NM_004565.3(PEX14):c.299-8G>T
|
rs112851814
|
|
NM_004565.3(PEX14):c.304G>T (p.Ala102Ser)
|
rs753731034
|
|
NM_004565.3(PEX14):c.306A>G (p.Ala102=)
|
|
|
NM_004565.3(PEX14):c.31A>G (p.Ser11Gly)
|
rs896802943
|
|
NM_004565.3(PEX14):c.31A>T (p.Ser11Cys)
|
rs896802943
|
|
NM_004565.3(PEX14):c.32G>A (p.Ser11Asn)
|
rs2124356828
|
|
NM_004565.3(PEX14):c.334C>G (p.Leu112Val)
|
|
|
NM_004565.3(PEX14):c.33C>T (p.Ser11=)
|
rs1276166187
|
|
NM_004565.3(PEX14):c.345C>A (p.Ile115=)
|
|
|
NM_004565.3(PEX14):c.345C>G (p.Ile115Met)
|
|
|
NM_004565.3(PEX14):c.356T>C (p.Ile119Thr)
|
|
|
NM_004565.3(PEX14):c.36+14G>A
|
|
|
NM_004565.3(PEX14):c.36+15A>G
|
|
|
NM_004565.3(PEX14):c.36+18G>A
|
|
|
NM_004565.3(PEX14):c.36+18del
|
|
|
NM_004565.3(PEX14):c.36+1G>T
|
rs1641167602
|
|
NM_004565.3(PEX14):c.36+3A>G
|
rs2124356856
|
|
NM_004565.3(PEX14):c.36+5G>A
|
rs756953282
|
|
NM_004565.3(PEX14):c.36+9A>G
|
|
|
NM_004565.3(PEX14):c.37-15C>A
|
|
|
NM_004565.3(PEX14):c.37-16C>T
|
|
|
NM_004565.3(PEX14):c.37-20del
|
|
|
NM_004565.3(PEX14):c.37-9T>C
|
|
|
NM_004565.3(PEX14):c.370C>T (p.His124Tyr)
|
|
|
NM_004565.3(PEX14):c.384+13_384+14delinsAT
|
rs2124633116
|
|
NM_004565.3(PEX14):c.384+15G>A
|
|
|
NM_004565.3(PEX14):c.384+16C>A
|
rs201704437
|
|
NM_004565.3(PEX14):c.384+16C>G
|
rs201704437
|
|
NM_004565.3(PEX14):c.384+16C>T
|
rs201704437
|
|
NM_004565.3(PEX14):c.384+18G>T
|
rs747804879
|
|
NM_004565.3(PEX14):c.384+20T>G
|
|
|
NM_004565.3(PEX14):c.384+7C>T
|
|
|
NM_004565.3(PEX14):c.385-11G>A
|
|
|
NM_004565.3(PEX14):c.385-11G>C
|
rs377127119
|
|
NM_004565.3(PEX14):c.385-12C>T
|
|
|
NM_004565.3(PEX14):c.385-18C>A
|
rs2124639218
|
|
NM_004565.3(PEX14):c.385-18C>T
|
|
|
NM_004565.3(PEX14):c.385-19C>A
|
rs1355559186
|
|
NM_004565.3(PEX14):c.385-20C>A
|
|
|
NM_004565.3(PEX14):c.385-4G>A
|
rs777256619
|
|
NM_004565.3(PEX14):c.385-8del
|
rs2124639250
|
|
NM_004565.3(PEX14):c.385-9T>A
|
rs758096686
|
|
NM_004565.3(PEX14):c.391C>T (p.Leu131=)
|
|
|
NM_004565.3(PEX14):c.395T>C (p.Leu132Pro)
|
rs1553121467
|
|
NM_004565.3(PEX14):c.413G>A (p.Gly138Asp)
|
rs1641640630
|
|
NM_004565.3(PEX14):c.416G>T (p.Arg139Leu)
|
rs147683525
|
|
NM_004565.3(PEX14):c.417A>G (p.Arg139=)
|
rs1641641102
|
|
NM_004565.3(PEX14):c.421G>A (p.Asp141Asn)
|
rs1641641278
|
|
NM_004565.3(PEX14):c.425G>A (p.Arg142Lys)
|
rs1641641457
|
|
NM_004565.3(PEX14):c.428A>G (p.Lys143Arg)
|
rs2124639369
|
|
NM_004565.3(PEX14):c.429G>A (p.Lys143=)
|
rs2124639380
|
|
NM_004565.3(PEX14):c.442A>T (p.Met148Leu)
|
|
|
NM_004565.3(PEX14):c.447G>A (p.Glu149=)
|
|
|
NM_004565.3(PEX14):c.450C>G (p.Ala150=)
|
|
|
NM_004565.3(PEX14):c.474C>T (p.Ser158=)
|
rs145867351
|
|
NM_004565.3(PEX14):c.477G>A (p.Val159=)
|
|
|
NM_004565.3(PEX14):c.480C>T (p.Ala160=)
|
|
|
NM_004565.3(PEX14):c.485C>A (p.Thr162Lys)
|
rs2124639470
|
|
NM_004565.3(PEX14):c.487+12T>C
|
|
|
NM_004565.3(PEX14):c.487+16T>C
|
rs1187391592
|
|
NM_004565.3(PEX14):c.487+17C>G
|
rs756085369
|
|
NM_004565.3(PEX14):c.487+17C>T
|
|
|
NM_004565.3(PEX14):c.487+9T>G
|
rs1641643394
|
|
NM_004565.3(PEX14):c.48T>C (p.Thr16=)
|
rs779545665
|
|
NM_004565.3(PEX14):c.48T>G (p.Thr16=)
|
rs779545665
|
|
NM_004565.3(PEX14):c.4_5delinsTT (p.Ala2Leu)
|
rs2124356650
|
|
NM_004565.3(PEX14):c.586-15G>A
|
|
|
NM_004565.3(PEX14):c.586-18C>T
|
|
|
NM_004565.3(PEX14):c.591C>T (p.Thr197=)
|
rs2124645848
|
|
NM_004565.3(PEX14):c.596C>G (p.Ser199Cys)
|
rs932537713
|
|
NM_004565.3(PEX14):c.600C>T (p.Thr200=)
|
rs1375932150
|
|
NM_004565.3(PEX14):c.602A>C (p.Asn201Thr)
|
rs142285791
|
|
NM_004565.3(PEX14):c.610C>T (p.Leu204=)
|
|
|
NM_004565.3(PEX14):c.626T>C (p.Ile209Thr)
|
rs758355392
|
|
NM_004565.3(PEX14):c.629A>G (p.Asn210Ser)
|
|
|
NM_004565.3(PEX14):c.630C>T (p.Asn210=)
|
|
|
NM_004565.3(PEX14):c.631G>A (p.Glu211Lys)
|
rs777737482
|
|
NM_004565.3(PEX14):c.631G>C (p.Glu211Gln)
|
|
|
NM_004565.3(PEX14):c.639G>A (p.Lys213=)
|
|
|
NM_004565.3(PEX14):c.63T>C (p.Asn21=)
|
|
|
NM_004565.3(PEX14):c.642C>G (p.Ser214=)
|
|
|
NM_004565.3(PEX14):c.646A>C (p.Ile216Leu)
|
rs898010278
|
|
NM_004565.3(PEX14):c.657G>A (p.Leu219=)
|
rs1480817199
|
|
NM_004565.3(PEX14):c.670T>C (p.Leu224=)
|
|
|
NM_004565.3(PEX14):c.677+13A>G
|
|
|
NM_004565.3(PEX14):c.677+6_677+8del
|
|
|
NM_004565.3(PEX14):c.678-10C>T
|
rs754096559
|
|
NM_004565.3(PEX14):c.678-12T>C
|
|
|
NM_004565.3(PEX14):c.678-13C>A
|
rs1009879912
|
|
NM_004565.3(PEX14):c.678-18C>G
|
|
|
NM_004565.3(PEX14):c.678-6C>T
|
|
|
NM_004565.3(PEX14):c.697C>G (p.Pro233Ala)
|
|
|
NM_004565.3(PEX14):c.699A>G (p.Pro233=)
|
|
|
NM_004565.3(PEX14):c.700T>G (p.Ser234Ala)
|
|
|
NM_004565.3(PEX14):c.703G>C (p.Ala235Pro)
|
rs778227279
|
|
NM_004565.3(PEX14):c.707C>T (p.Pro236Leu)
|
rs141373791
|
|
NM_004565.3(PEX14):c.709A>G (p.Lys237Glu)
|
|
|
NM_004565.3(PEX14):c.70C>T (p.Pro24Ser)
|
|
|
NM_004565.3(PEX14):c.715C>T (p.Pro239Ser)
|
rs745559681
|
|
NM_004565.3(PEX14):c.721T>C (p.Trp241Arg)
|
rs2124649865
|
|
NM_004565.3(PEX14):c.738G>A (p.Lys246=)
|
rs2124649880
|
|
NM_004565.3(PEX14):c.743C>A (p.Pro248Gln)
|
rs553512429
|
|
NM_004565.3(PEX14):c.74G>A (p.Arg25Gln)
|
|
|
NM_004565.3(PEX14):c.752C>T (p.Ser251Phe)
|
rs1160685953
|
|
NM_004565.3(PEX14):c.753C>T (p.Ser251=)
|
|
|
NM_004565.3(PEX14):c.758del (p.Pro253fs)
|
rs35723571
|
|
NM_004565.3(PEX14):c.761C>T (p.Ala254Val)
|
rs149265608
|
|
NM_004565.3(PEX14):c.765C>A (p.Ala255=)
|
rs755259929
|
|
NM_004565.3(PEX14):c.765C>T (p.Ala255=)
|
rs755259929
|
|
NM_004565.3(PEX14):c.767T>C (p.Val256Ala)
|
|
|
NM_004565.3(PEX14):c.76G>A (p.Glu26Lys)
|
rs748746721
|
|
NM_004565.3(PEX14):c.777C>T (p.His259=)
|
rs1641852488
|
|
NM_004565.3(PEX14):c.806A>C (p.Asn269Thr)
|
|
|
NM_004565.3(PEX14):c.80C>T (p.Pro27Leu)
|
rs1161833863
|
|
NM_004565.3(PEX14):c.813C>A (p.Ser271=)
|
|
|
NM_004565.3(PEX14):c.815C>T (p.Thr272Met)
|
|
|
NM_004565.3(PEX14):c.816GTC[1] (p.Ser275del)
|
rs1641853895
|
|
NM_004565.3(PEX14):c.81G>A (p.Pro27=)
|
rs1557810674
|
|
NM_004565.3(PEX14):c.81G>T (p.Pro27=)
|
|
|
NM_004565.3(PEX14):c.820T>C (p.Ser274Pro)
|
|
|
NM_004565.3(PEX14):c.84+11A>G
|
|
|
NM_004565.3(PEX14):c.84+9C>T
|
|
|
NM_004565.3(PEX14):c.843C>T (p.His281=)
|
|
|
NM_004565.3(PEX14):c.849C>G (p.Pro283=)
|
rs752909373
|
|
NM_004565.3(PEX14):c.85-11T>A
|
|
|
NM_004565.3(PEX14):c.85-5A>G
|
|
|
NM_004565.3(PEX14):c.85-6C>T
|
|
|
NM_004565.3(PEX14):c.850G>A (p.Glu284Lys)
|
rs763093176
|
|
NM_004565.3(PEX14):c.854_859dup (p.Ser286_Thr287insSerSer)
|
rs1641856216
|
|
NM_004565.3(PEX14):c.856T>C (p.Ser286Pro)
|
|
|
NM_004565.3(PEX14):c.857C>T (p.Ser286Phe)
|
|
|
NM_004565.3(PEX14):c.861G>A (p.Thr287=)
|
rs371329619
|
|
NM_004565.3(PEX14):c.861G>C (p.Thr287=)
|
rs371329619
|
|
NM_004565.3(PEX14):c.861G>T (p.Thr287=)
|
rs371329619
|
|
NM_004565.3(PEX14):c.862G>A (p.Val288Ile)
|
rs1207319506
|
|
NM_004565.3(PEX14):c.87T>C (p.Ile29=)
|
|
|
NM_004565.3(PEX14):c.881G>A (p.Gly294Asp)
|
|
|
NM_004565.3(PEX14):c.882C>A (p.Gly294=)
|
|
|
NM_004565.3(PEX14):c.882C>T (p.Gly294=)
|
|
|
NM_004565.3(PEX14):c.883C>A (p.Pro295Thr)
|
rs886045017
|
|
NM_004565.3(PEX14):c.883C>T (p.Pro295Ser)
|
rs886045017
|
|
NM_004565.3(PEX14):c.889G>A (p.Glu297Lys)
|
rs2124650376
|
|
NM_004565.3(PEX14):c.890A>C (p.Glu297Ala)
|
|
|
NM_004565.3(PEX14):c.904G>C (p.Val302Leu)
|
|
|
NM_004565.3(PEX14):c.908T>C (p.Val303Ala)
|
rs1160257639
|
|
NM_004565.3(PEX14):c.913G>A (p.Val305Ile)
|
|
|
NM_004565.3(PEX14):c.918G>A (p.Lys306=)
|
|
|
NM_004565.3(PEX14):c.92C>T (p.Thr31Met)
|
rs1570228034
|
|
NM_004565.3(PEX14):c.937G>A (p.Val313Met)
|
|
|
NM_004565.3(PEX14):c.946G>A (p.Glu316Lys)
|
rs903736101
|
|
NM_004565.3(PEX14):c.946GAG[2] (p.Glu318del)
|
rs1557442698
|
|
NM_004565.3(PEX14):c.957G>A (p.Lys319=)
|
|
|
NM_004565.3(PEX14):c.959_967del (p.Arg320_Asp322del)
|
rs2124650605
|
|
NM_004565.3(PEX14):c.964G>T (p.Asp322Tyr)
|
|
|
NM_004565.3(PEX14):c.967A>G (p.Lys323Glu)
|
rs368244738
|
|
NM_004565.3(PEX14):c.969G>A (p.Lys323=)
|
|
|
NM_004565.3(PEX14):c.970G>A (p.Glu324Lys)
|
rs1641863492
|
|
NM_004565.3(PEX14):c.976G>A (p.Glu326Lys)
|
rs748930085
|
|
NM_004565.3(PEX14):c.984T>C (p.Asp328=)
|
rs2124650721
|
|
NM_004565.3(PEX14):c.992ATG[2] (p.Asp333del)
|
rs760231440
|
|
NM_004565.3(PEX14):c.992ATG[4] (p.Asp333dup)
|
rs760231440
|
|
NM_004565.3(PEX14):c.997G>T (p.Asp333Tyr)
|
rs2124650787
|
|
NM_004565.3(PEX14):c.99G>C (p.Val33=)
|
rs1239507203
|
|