NM_000288.3(PEX7):c.-77T>C
|
rs1321472
|
0.00160
|
NM_000288.4(PEX7):c.615C>T (p.Asp205=)
|
rs147298444
|
0.00085
|
NM_000288.4(PEX7):c.418-4G>T
|
rs199552223
|
0.00054
|
NM_000288.4(PEX7):c.128C>T (p.Ala43Val)
|
rs780369944
|
0.00052
|
NM_000288.4(PEX7):c.94C>T (p.Leu32=)
|
rs886061118
|
0.00032
|
NM_000288.4(PEX7):c.188+3A>G
|
rs200234391
|
0.00019
|
NM_000288.3(PEX7):c.-91G>A
|
rs772358439
|
0.00013
|
NM_000288.4(PEX7):c.28C>T (p.Arg10Trp)
|
rs1321528623
|
0.00012
|
NM_000288.4(PEX7):c.44C>T (p.Pro15Leu)
|
rs925593750
|
0.00011
|
NM_000288.4(PEX7):c.695G>A (p.Arg232Gln)
|
rs191969418
|
0.00011
|
NM_000288.4(PEX7):c.340-10A>G
|
rs267608255
|
0.00006
|
NM_000288.4(PEX7):c.418-3T>C
|
rs770117560
|
0.00006
|
NM_000288.4(PEX7):c.203A>T (p.Asp68Val)
|
rs763388501
|
0.00004
|
NM_000288.4(PEX7):c.467G>A (p.Ser156Asn)
|
rs1554331549
|
0.00004
|
NM_000288.4(PEX7):c.65C>T (p.Ala22Val)
|
rs1052621653
|
0.00004
|
NM_000288.4(PEX7):c.77C>T (p.Pro26Leu)
|
rs1003031615
|
0.00004
|
NM_000288.4(PEX7):c.804-5C>T
|
rs369653173
|
0.00004
|
NM_000288.4(PEX7):c.886C>T (p.Leu296Phe)
|
rs760967879
|
0.00004
|
NM_000288.4(PEX7):c.941A>G (p.Tyr314Cys)
|
rs201106072
|
0.00004
|
NM_000288.4(PEX7):c.*223T>A
|
rs774681133
|
0.00003
|
NM_000288.4(PEX7):c.576C>T (p.Ile192=)
|
rs776411851
|
0.00003
|
NM_000288.4(PEX7):c.730G>A (p.Ala244Thr)
|
rs375091907
|
0.00003
|
NM_000288.4(PEX7):c.803+5A>G
|
rs759078908
|
0.00003
|
NM_000288.4(PEX7):c.86C>T (p.Pro29Leu)
|
rs757852291
|
0.00003
|
NM_000288.4(PEX7):c.903+8A>G
|
rs779919482
|
0.00003
|
NM_000288.4(PEX7):c.244G>A (p.Val82Ile)
|
rs770777194
|
0.00002
|
NM_000288.4(PEX7):c.413A>G (p.Lys138Arg)
|
rs762113236
|
0.00002
|
NM_000288.4(PEX7):c.629A>G (p.Asn210Ser)
|
rs753193218
|
0.00002
|
NM_000288.4(PEX7):c.769G>A (p.Val257Met)
|
rs771916687
|
0.00002
|
NM_000288.4(PEX7):c.950C>T (p.Ala317Val)
|
rs541306617
|
0.00002
|
NM_000288.4(PEX7):c.-28G>A
|
rs376808803
|
0.00001
|
NM_000288.4(PEX7):c.115C>A (p.His39Asn)
|
rs1316023843
|
0.00001
|
NM_000288.4(PEX7):c.129G>C (p.Ala43=)
|
rs1256466654
|
0.00001
|
NM_000288.4(PEX7):c.130+6G>C
|
rs1299374519
|
0.00001
|
NM_000288.4(PEX7):c.167C>G (p.Ala56Gly)
|
rs765902458
|
0.00001
|
NM_000288.4(PEX7):c.17G>C (p.Gly6Ala)
|
rs1774097181
|
0.00001
|
NM_000288.4(PEX7):c.193G>A (p.Asp65Asn)
|
rs1229970963
|
0.00001
|
NM_000288.4(PEX7):c.290C>G (p.Thr97Ser)
|
rs1391235393
|
0.00001
|
NM_000288.4(PEX7):c.296A>G (p.Lys99Arg)
|
rs367806635
|
0.00001
|
NM_000288.4(PEX7):c.347G>T (p.Ser116Ile)
|
rs1181412133
|
0.00001
|
NM_000288.4(PEX7):c.373G>A (p.Glu125Lys)
|
rs769137963
|
0.00001
|
NM_000288.4(PEX7):c.442C>G (p.Leu148Val)
|
rs752606372
|
0.00001
|
NM_000288.4(PEX7):c.496C>T (p.His166Tyr)
|
rs1219430310
|
0.00001
|
NM_000288.4(PEX7):c.525A>G (p.Ser175=)
|
rs771080595
|
0.00001
|
NM_000288.4(PEX7):c.534G>C (p.Gln178His)
|
rs746010906
|
0.00001
|
NM_000288.4(PEX7):c.554T>C (p.Val185Ala)
|
rs1424846175
|
0.00001
|
NM_000288.4(PEX7):c.611G>A (p.Cys204Tyr)
|
rs368435862
|
0.00001
|
NM_000288.4(PEX7):c.701C>T (p.Pro234Leu)
|
rs759158962
|
0.00001
|
NM_000288.4(PEX7):c.737G>A (p.Arg246Lys)
|
rs780186421
|
0.00001
|
NM_000288.4(PEX7):c.748-10T>C
|
rs886061122
|
0.00001
|
NM_000288.4(PEX7):c.782G>A (p.Cys261Tyr)
|
rs770301248
|
0.00001
|
NM_000288.4(PEX7):c.785C>T (p.Ser262Leu)
|
rs62653610
|
0.00001
|
NM_000288.4(PEX7):c.803+4C>G
|
rs759745913
|
0.00001
|
NM_000288.4(PEX7):c.843A>G (p.Thr281=)
|
rs767903764
|
0.00001
|
NM_000288.4(PEX7):c.903+6G>A
|
rs758226348
|
0.00001
|
NM_000288.4(PEX7):c.946C>T (p.Pro316Ser)
|
rs746310299
|
0.00001
|
NM_000288.4(PEX7):c.961A>G (p.Ile321Val)
|
rs879706210
|
0.00001
|
NC_000006.11:g.(?_137143759)_(137143953_?)dup
|
|
|
NC_000006.11:g.(?_137143759)_(137167339_?)dup
|
|
|
NC_000006.12:g.(?_136821564)_(136914934_?)dup
|
|
|
NM_000288.3(PEX7):c.-88T>C
|
rs886061115
|
|
NM_000288.4(PEX7):c.*124A>G
|
rs112796869
|
|
NM_000288.4(PEX7):c.*305C>A
|
rs567568009
|
|
NM_000288.4(PEX7):c.*305C>T
|
rs567568009
|
|
NM_000288.4(PEX7):c.*305_*310del
|
rs886061123
|
|
NM_000288.4(PEX7):c.*367T>C
|
rs886061124
|
|
NM_000288.4(PEX7):c.-18C>T
|
rs991168664
|
|
NM_000288.4(PEX7):c.-35G>A
|
rs886061116
|
|
NM_000288.4(PEX7):c.-3G>A
|
rs886061117
|
|
NM_000288.4(PEX7):c.-69C>A
|
rs528948146
|
|
NM_000288.4(PEX7):c.100T>G (p.Cys34Gly)
|
rs1774101933
|
|
NM_000288.4(PEX7):c.107C>T (p.Thr36Ile)
|
|
|
NM_000288.4(PEX7):c.113A>G (p.Gln38Arg)
|
|
|
NM_000288.4(PEX7):c.116A>G (p.His39Arg)
|
rs61753237
|
|
NM_000288.4(PEX7):c.117C>G (p.His39Gln)
|
|
|
NM_000288.4(PEX7):c.121G>C (p.Gly41Arg)
|
rs1210968366
|
|
NM_000288.4(PEX7):c.121G>T (p.Gly41Cys)
|
|
|
NM_000288.4(PEX7):c.122G>A (p.Gly41Asp)
|
rs61753239
|
|
NM_000288.4(PEX7):c.130+11G>T
|
rs886061119
|
|
NM_000288.4(PEX7):c.130+13C>A
|
rs886061120
|
|
NM_000288.4(PEX7):c.130+3G>A
|
|
|
NM_000288.4(PEX7):c.130+5G>A
|
|
|
NM_000288.4(PEX7):c.134G>A (p.Cys45Tyr)
|
rs2115129058
|
|
NM_000288.4(PEX7):c.136_137delinsCT (p.Gly46Leu)
|
rs2115129066
|
|
NM_000288.4(PEX7):c.184A>G (p.Arg62Gly)
|
|
|
NM_000288.4(PEX7):c.195C>G (p.Asp65Glu)
|
rs2115131716
|
|
NM_000288.4(PEX7):c.20G>A (p.Gly7Glu)
|
|
|
NM_000288.4(PEX7):c.212T>C (p.Phe71Ser)
|
rs902252309
|
|
NM_000288.4(PEX7):c.22G>C (p.Ala8Pro)
|
|
|
NM_000288.4(PEX7):c.238G>A (p.Glu80Lys)
|
|
|
NM_000288.4(PEX7):c.23C>A (p.Ala8Glu)
|
rs1306941707
|
|
NM_000288.4(PEX7):c.257G>T (p.Cys86Phe)
|
|
|
NM_000288.4(PEX7):c.26C>A (p.Ala9Glu)
|
rs1774097710
|
|
NM_000288.4(PEX7):c.26C>T (p.Ala9Val)
|
|
|
NM_000288.4(PEX7):c.275T>C (p.Leu92Pro)
|
|
|
NM_000288.4(PEX7):c.278A>G (p.Gln93Arg)
|
|
|
NM_000288.4(PEX7):c.286G>A (p.Asp96Asn)
|
rs1412257014
|
|
NM_000288.4(PEX7):c.313C>A (p.Gln105Lys)
|
|
|
NM_000288.4(PEX7):c.313C>G (p.Gln105Glu)
|
|
|
NM_000288.4(PEX7):c.316G>C (p.Val106Leu)
|
rs886061121
|
|
NM_000288.4(PEX7):c.319T>A (p.Tyr107Asn)
|
|
|
NM_000288.4(PEX7):c.320A>G (p.Tyr107Cys)
|
|
|
NM_000288.4(PEX7):c.322A>G (p.Lys108Glu)
|
rs760182861
|
|
NM_000288.4(PEX7):c.330C>G (p.His110Gln)
|
rs199648976
|
|
NM_000288.4(PEX7):c.331G>A (p.Ala111Thr)
|
rs368225510
|
|
NM_000288.4(PEX7):c.335A>G (p.Gln112Arg)
|
|
|
NM_000288.4(PEX7):c.346A>G (p.Ser116Gly)
|
|
|
NM_000288.4(PEX7):c.346_348del (p.Ser116del)
|
rs1774581899
|
|
NM_000288.4(PEX7):c.35_43dup (p.Thr14_Pro15insLeuArgThr)
|
|
|
NM_000288.4(PEX7):c.382G>A (p.Val128Met)
|
|
|
NM_000288.4(PEX7):c.382G>C (p.Val128Leu)
|
|
|
NM_000288.4(PEX7):c.385G>A (p.Val129Met)
|
rs746310218
|
|
NM_000288.4(PEX7):c.38G>A (p.Arg13Gln)
|
rs1220044805
|
|
NM_000288.4(PEX7):c.419G>T (p.Trp140Leu)
|
|
|
NM_000288.4(PEX7):c.41C>T (p.Thr14Met)
|
|
|
NM_000288.4(PEX7):c.423T>A (p.Asp141Glu)
|
|
|
NM_000288.4(PEX7):c.449C>G (p.Thr150Ser)
|
|
|
NM_000288.4(PEX7):c.457G>A (p.Gly153Ser)
|
|
|
NM_000288.4(PEX7):c.46G>C (p.Gly16Arg)
|
rs1774098770
|
|
NM_000288.4(PEX7):c.484A>G (p.Ile162Val)
|
|
|
NM_000288.4(PEX7):c.489G>T (p.Trp163Cys)
|
|
|
NM_000288.4(PEX7):c.494C>A (p.Pro165His)
|
|
|
NM_000288.4(PEX7):c.508T>C (p.Cys170Arg)
|
|
|
NM_000288.4(PEX7):c.508T>G (p.Cys170Gly)
|
|
|
NM_000288.4(PEX7):c.514G>C (p.Ala172Pro)
|
rs1562734989
|
|
NM_000288.4(PEX7):c.530A>G (p.Asp177Gly)
|
|
|
NM_000288.4(PEX7):c.532C>A (p.Gln178Lys)
|
|
|
NM_000288.4(PEX7):c.533A>G (p.Gln178Arg)
|
|
|
NM_000288.4(PEX7):c.539T>C (p.Leu180Pro)
|
|
|
NM_000288.4(PEX7):c.53A>G (p.His18Arg)
|
rs2115122498
|
|
NM_000288.4(PEX7):c.542G>T (p.Arg181Ile)
|
|
|
NM_000288.4(PEX7):c.568G>A (p.Val190Ile)
|
|
|
NM_000288.4(PEX7):c.587C>T (p.Ala196Val)
|
rs2115216804
|
|
NM_000288.4(PEX7):c.618G>T (p.Trp206Cys)
|
|
|
NM_000288.4(PEX7):c.620G>C (p.Cys207Ser)
|
|
|
NM_000288.4(PEX7):c.633+3A>G
|
|
|
NM_000288.4(PEX7):c.641T>C (p.Leu214Pro)
|
rs1554333880
|
|
NM_000288.4(PEX7):c.67G>C (p.Glu23Gln)
|
|
|
NM_000288.4(PEX7):c.704T>C (p.Val235Ala)
|
|
|
NM_000288.4(PEX7):c.716T>C (p.Leu239Pro)
|
rs754346713
|
|
NM_000288.4(PEX7):c.72C>A (p.Phe24Leu)
|
|
|
NM_000288.4(PEX7):c.730G>T (p.Ala244Ser)
|
rs375091907
|
|
NM_000288.4(PEX7):c.733A>G (p.Ile245Val)
|
rs750815894
|
|
NM_000288.4(PEX7):c.733A>T (p.Ile245Phe)
|
rs750815894
|
|
NM_000288.4(PEX7):c.737G>T (p.Arg246Met)
|
rs780186421
|
|
NM_000288.4(PEX7):c.747+5G>A
|
rs1775145774
|
|
NM_000288.4(PEX7):c.74C>T (p.Ser25Phe)
|
rs61753236
|
|
NM_000288.4(PEX7):c.76C>G (p.Pro26Ala)
|
|
|
NM_000288.4(PEX7):c.778T>A (p.Ser260Thr)
|
|
|
NM_000288.4(PEX7):c.77C>G (p.Pro26Arg)
|
|
|
NM_000288.4(PEX7):c.797C>T (p.Thr266Ile)
|
rs1452611618
|
|
NM_000288.4(PEX7):c.800T>C (p.Val267Ala)
|
|
|
NM_000288.4(PEX7):c.803+5A>C
|
|
|
NM_000288.4(PEX7):c.803G>C (p.Arg268Thr)
|
|
|
NM_000288.4(PEX7):c.830C>G (p.Ser277Cys)
|
|
|
NM_000288.4(PEX7):c.832C>T (p.Leu278Phe)
|
rs1775685342
|
|
NM_000288.4(PEX7):c.848A>C (p.Glu283Ala)
|
rs2115273002
|
|
NM_000288.4(PEX7):c.85C>G (p.Pro29Ala)
|
|
|
NM_000288.4(PEX7):c.870_871insCAA (p.Cys290_Gly291insGln)
|
rs267608257
|
|
NM_000288.4(PEX7):c.879C>A (p.Asp293Glu)
|
|
|
NM_000288.4(PEX7):c.883A>G (p.Ser295Gly)
|
|
|
NM_000288.4(PEX7):c.903+5C>T
|
|
|
NM_000288.4(PEX7):c.904-1G>A
|
rs1413838301
|
|
NM_000288.4(PEX7):c.911A>T (p.Asp304Val)
|
|
|
NM_000288.4(PEX7):c.917C>T (p.Ser306Phe)
|
rs267608258
|
|
NM_000288.4(PEX7):c.91C>T (p.Arg31Cys)
|
|
|
NM_000288.4(PEX7):c.934A>G (p.Lys312Glu)
|
rs2115300138
|
|
NM_000288.4(PEX7):c.964C>A (p.Pro322Thr)
|
|
|
NM_000288.4(PEX7):c.968C>A (p.Ala323Asp)
|
rs1184131500
|
|
NM_000288.4(PEX7):c.970T>C (p.Ter324Arg)
|
rs988988279
|
|