NM_000288.4(PEX7):c.340-71G>A
|
rs927181
|
0.98050
|
NM_000288.4(PEX7):c.*306T>G
|
rs1050803
|
0.51106
|
NM_000288.4(PEX7):c.130+48_130+53dup
|
rs11283064
|
0.50803
|
NM_000288.4(PEX7):c.-56C>T
|
rs73777751
|
0.11791
|
NM_000288.4(PEX7):c.340-103A>G
|
rs2295592
|
0.10001
|
NM_000288.4(PEX7):c.803+105A>C
|
rs72985582
|
0.04283
|
NM_000288.4(PEX7):c.-31G>A
|
rs115866467
|
0.02411
|
NM_000288.4(PEX7):c.377A>C (p.Gln126Pro)
|
rs113268723
|
0.00376
|
NM_000288.4(PEX7):c.*38G>A
|
rs41288965
|
0.00188
|
NM_000288.3(PEX7):c.-77T>C
|
rs1321472
|
0.00160
|
NM_000288.4(PEX7):c.*272A>G
|
rs186705952
|
0.00145
|
NM_000288.4(PEX7):c.615C>T (p.Asp205=)
|
rs147298444
|
0.00085
|
NM_000288.4(PEX7):c.339+10A>G
|
rs374668045
|
0.00075
|
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.875T>A (p.Leu292Ter)
|
rs1805137
|
0.00048
|
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.44C>T (p.Pro15Leu)
|
rs925593750
|
0.00011
|
NM_000288.4(PEX7):c.695G>A (p.Arg232Gln)
|
rs191969418
|
0.00011
|
NM_000288.4(PEX7):c.903+1G>C
|
rs148591292
|
0.00011
|
NM_000288.4(PEX7):c.120C>G (p.Tyr40Ter)
|
rs61753238
|
0.00010
|
NM_000288.4(PEX7):c.*115A>G
|
rs41288967
|
0.00006
|
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.649G>A (p.Gly217Arg)
|
rs121909152
|
0.00005
|
NM_000288.4(PEX7):c.171G>C (p.Gly57=)
|
rs750791932
|
0.00004
|
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.618G>A (p.Trp206Ter)
|
rs61753245
|
0.00004
|
NM_000288.4(PEX7):c.804-5C>T
|
rs369653173
|
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.116A>C (p.His39Pro)
|
rs61753237
|
0.00003
|
NM_000288.4(PEX7):c.576C>T (p.Ile192=)
|
rs776411851
|
0.00003
|
NM_000288.4(PEX7):c.653C>T (p.Ala218Val)
|
rs121909151
|
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.-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+1G>A
|
rs267608253
|
0.00001
|
NM_000288.4(PEX7):c.188+1G>C
|
rs267608254
|
0.00001
|
NM_000288.4(PEX7):c.193G>A (p.Asp65Asn)
|
rs1229970963
|
0.00001
|
NM_000288.4(PEX7):c.296A>G (p.Lys99Arg)
|
rs367806635
|
0.00001
|
NM_000288.4(PEX7):c.297A>G (p.Lys99=)
|
rs766858149
|
0.00001
|
NM_000288.4(PEX7):c.345T>G (p.Tyr115Ter)
|
rs121909154
|
0.00001
|
NM_000288.4(PEX7):c.373G>A (p.Glu125Lys)
|
rs769137963
|
0.00001
|
NM_000288.4(PEX7):c.429del (p.Val144fs)
|
rs61753248
|
0.00001
|
NM_000288.4(PEX7):c.496C>T (p.His166Tyr)
|
rs1219430310
|
0.00001
|
NM_000288.4(PEX7):c.554T>C (p.Val185Ala)
|
rs1424846175
|
0.00001
|
NM_000288.4(PEX7):c.592C>T (p.Gln198Ter)
|
rs764924345
|
0.00001
|
NM_000288.4(PEX7):c.681C>T (p.Asp227=)
|
rs1236779327
|
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.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.854A>G (p.His285Arg)
|
rs62653611
|
0.00001
|
NM_000288.4(PEX7):c.961A>G (p.Ile321Val)
|
rs879706210
|
0.00001
|
NM_000288.4(PEX7):c.96G>A (p.Leu32=)
|
rs1397119638
|
0.00001
|
NM_000288.3(PEX7):c.-88T>C
|
rs886061115
|
|
NM_000288.4(PEX7):c.*124A>G
|
rs112796869
|
|
NM_000288.4(PEX7):c.*257_*258insAGT
|
rs1801001
|
|
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.-46_-38dup
|
rs1554328233
|
|
NM_000288.4(PEX7):c.-65A>T
|
rs190537612
|
|
NM_000288.4(PEX7):c.-69C>A
|
rs528948146
|
|
NM_000288.4(PEX7):c.-95T>C
|
rs1321471
|
|
NM_000288.4(PEX7):c.121G>C (p.Gly41Arg)
|
rs1210968366
|
|
NM_000288.4(PEX7):c.122G>T (p.Gly41Val)
|
rs61753239
|
|
NM_000288.4(PEX7):c.122_123del (p.Gly41fs)
|
|
|
NM_000288.4(PEX7):c.130+11G>T
|
rs886061119
|
|
NM_000288.4(PEX7):c.130+13C>A
|
rs886061120
|
|
NM_000288.4(PEX7):c.130+1G>C
|
rs267608253
|
|
NM_000288.4(PEX7):c.130+32_130+51del
|
rs1554328334
|
|
NM_000288.4(PEX7):c.131-2A>G
|
rs1554328790
|
|
NM_000288.4(PEX7):c.13_19dup (p.Gly7fs)
|
rs62636519
|
|
NM_000288.4(PEX7):c.183del (p.Phe61fs)
|
rs774131564
|
|
NM_000288.4(PEX7):c.188+1G>A
|
rs267608254
|
|
NM_000288.4(PEX7):c.189-2A>G
|
rs1554328952
|
|
NM_000288.4(PEX7):c.206del (p.Gly69fs)
|
|
|
NM_000288.4(PEX7):c.225G>C (p.Trp75Cys)
|
rs1554328961
|
|
NM_000288.4(PEX7):c.233del (p.Asn78fs)
|
rs1582732852
|
|
NM_000288.4(PEX7):c.277C>T (p.Gln93Ter)
|
rs763514968
|
|
NM_000288.4(PEX7):c.294del (p.Ala100fs)
|
rs1456007349
|
|
NM_000288.4(PEX7):c.297del (p.Ala100fs)
|
|
|
NM_000288.4(PEX7):c.316G>C (p.Val106Leu)
|
rs886061121
|
|
NM_000288.4(PEX7):c.31_56del (p.Met11fs)
|
rs1057516961
|
|
NM_000288.4(PEX7):c.323_324del (p.Lys108fs)
|
|
|
NM_000288.4(PEX7):c.330C>T (p.His110=)
|
rs199648976
|
|
NM_000288.4(PEX7):c.331G>A (p.Ala111Thr)
|
rs368225510
|
|
NM_000288.4(PEX7):c.334C>T (p.Gln112Ter)
|
rs62653604
|
|
NM_000288.4(PEX7):c.339+2T>C
|
rs1057517059
|
|
NM_000288.4(PEX7):c.357G>A (p.Trp119Ter)
|
rs1554331461
|
|
NM_000288.4(PEX7):c.373G>T (p.Glu125Ter)
|
rs769137963
|
|
NM_000288.4(PEX7):c.376C>T (p.Gln126Ter)
|
rs2115170536
|
|
NM_000288.4(PEX7):c.37_45dup (p.Arg13_Pro15dup)
|
rs1554328282
|
|
NM_000288.4(PEX7):c.38G>A (p.Arg13Gln)
|
rs1220044805
|
|
NM_000288.4(PEX7):c.400G>A (p.Asp134Asn)
|
rs764346452
|
|
NM_000288.4(PEX7):c.40A>C (p.Thr14Pro)
|
rs61753233
|
|
NM_000288.4(PEX7):c.418-1G>A
|
rs773406384
|
|
NM_000288.4(PEX7):c.449C>T (p.Thr150Ile)
|
rs957954726
|
|
NM_000288.4(PEX7):c.45_52dup (p.His18fs)
|
rs63535662
|
|
NM_000288.4(PEX7):c.463G>T (p.Glu155Ter)
|
|
|
NM_000288.4(PEX7):c.46_47del (p.Gly16fs)
|
|
|
NM_000288.4(PEX7):c.490T>C (p.Ser164Pro)
|
rs62653607
|
|
NM_000288.4(PEX7):c.508del (p.Cys170fs)
|
rs1057516827
|
|
NM_000288.4(PEX7):c.527-2A>G
|
rs1057517339
|
|
NM_000288.4(PEX7):c.538_539del (p.Leu180fs)
|
rs1582757650
|
|
NM_000288.4(PEX7):c.538del (p.Thr179_Leu180insTer)
|
rs1554333636
|
|
NM_000288.4(PEX7):c.545dup (p.Trp183fs)
|
rs1057516574
|
|
NM_000288.4(PEX7):c.60C>G (p.Tyr20Ter)
|
rs1057516882
|
|
NM_000288.4(PEX7):c.622A>T (p.Lys208Ter)
|
|
|
NM_000288.4(PEX7):c.633+1G>A
|
rs1057516989
|
|
NM_000288.4(PEX7):c.638dup (p.Leu213fs)
|
|
|
NM_000288.4(PEX7):c.641T>C (p.Leu214Pro)
|
rs1554333880
|
|
NM_000288.4(PEX7):c.668T>A (p.Leu223Ter)
|
|
|
NM_000288.4(PEX7):c.682_683delinsA (p.Leu228fs)
|
|
|
NM_000288.4(PEX7):c.693A>G (p.Val231=)
|
rs1582759944
|
|
NM_000288.4(PEX7):c.694C>T (p.Arg232Ter)
|
rs121909153
|
|
NM_000288.4(PEX7):c.733A>T (p.Ile245Phe)
|
rs750815894
|
|
NM_000288.4(PEX7):c.735dup (p.Arg246Ter)
|
rs1582760004
|
|
NM_000288.4(PEX7):c.736_747+17del
|
rs1057517257
|
|
NM_000288.4(PEX7):c.747+20_747+24del
|
rs199624608
|
|
NM_000288.4(PEX7):c.748-2A>G
|
rs778862698
|
|
NM_000288.4(PEX7):c.748-4G>T
|
rs74658757
|
|
NM_000288.4(PEX7):c.74C>T (p.Ser25Phe)
|
rs61753236
|
|
NM_000288.4(PEX7):c.760C>T (p.His254Tyr)
|
rs1775195476
|
|
NM_000288.4(PEX7):c.774_784del (p.Ala259fs)
|
rs1057516824
|
|
NM_000288.4(PEX7):c.797C>T (p.Thr266Ile)
|
rs1452611618
|
|
NM_000288.4(PEX7):c.806dup (p.Trp270fs)
|
rs1464766327
|
|
NM_000288.4(PEX7):c.817del (p.Ser273fs)
|
rs1554335926
|
|
NM_000288.4(PEX7):c.81C>G (p.Tyr27Ter)
|
rs1057516737
|
|
NM_000288.4(PEX7):c.832C>T (p.Leu278Phe)
|
rs1775685342
|
|
NM_000288.4(PEX7):c.870_871insCAA (p.Cys290_Gly291insGln)
|
rs267608257
|
|
NM_000288.4(PEX7):c.871_874del (p.Cys290_Gly291insTer)
|
rs1554335937
|
|
NM_000288.4(PEX7):c.901C>T (p.Gln301Ter)
|
rs374763007
|
|
NM_000288.4(PEX7):c.904-1G>A
|
rs1413838301
|
|
NM_000288.4(PEX7):c.917C>T (p.Ser306Phe)
|
rs267608258
|
|
NM_000288.4(PEX7):c.917del (p.Ser306fs)
|
rs1554337182
|
|
NM_000288.4(PEX7):c.931del (p.Thr310_Ile311insTer)
|
rs1554337188
|
|
NM_000288.4(PEX7):c.968C>A (p.Ala323Asp)
|
rs1184131500
|
|
NM_000288.4(PEX7):c.970T>C (p.Ter324Arg)
|
rs988988279
|
|
NM_000288.4(PEX7):c.970T>G (p.Ter324Gly)
|
rs988988279
|
|
NM_000288.4(PEX7):c.971G>C (p.Ter324Ser)
|
rs374574552
|
|