NM_000466.3(PEX1):c.2331C>A (p.Gly777=)
|
rs10278857
|
0.93013
|
NM_000466.3(PEX1):c.358-15G>A
|
rs38809
|
0.86650
|
NM_000466.3(PEX1):c.1484-36G>A
|
rs2111200
|
0.25489
|
NM_000466.3(PEX1):c.1804-28G>A
|
rs10236856
|
0.07802
|
NM_000466.3(PEX1):c.358-11G>C
|
rs113104510
|
0.04153
|
NM_000466.3(PEX1):c.473-18G>A
|
rs2066743
|
0.03344
|
NM_000466.3(PEX1):c.2584-20T>A
|
rs111535201
|
0.02687
|
NM_000466.3(PEX1):c.2088A>G (p.Ile696Met)
|
rs35996821
|
0.02553
|
NM_000466.3(PEX1):c.1671-7T>C
|
rs74519968
|
0.01312
|
NM_000466.3(PEX1):c.1521G>C (p.Trp507Cys)
|
rs112822975
|
0.00803
|
NM_000466.3(PEX1):c.934A>G (p.Ile312Val)
|
rs146312634
|
0.00223
|
NM_000466.3(PEX1):c.330C>G (p.Pro110=)
|
rs71560821
|
0.00218
|
NM_000466.3(PEX1):c.1579A>G (p.Thr527Ala)
|
rs144942544
|
0.00217
|
NM_000466.3(PEX1):c.2442C>T (p.Phe814=)
|
rs145430946
|
0.00216
|
NM_000466.3(PEX1):c.473-3C>T
|
rs150576000
|
0.00213
|
NM_000466.3(PEX1):c.637C>T (p.Leu213Phe)
|
rs141798874
|
0.00185
|
NM_000466.3(PEX1):c.130-9T>C
|
rs377337949
|
0.00157
|
NM_000466.3(PEX1):c.1011G>A (p.Lys337=)
|
rs142018583
|
0.00155
|
NM_000466.3(PEX1):c.2718+3A>G
|
rs370536529
|
0.00040
|
NM_000466.3(PEX1):c.1360-4G>T
|
rs199716270
|
0.00038
|
NM_000466.3(PEX1):c.2584-9del
|
rs886062504
|
0.00034
|
NM_000466.3(PEX1):c.939T>C (p.His313=)
|
rs199647157
|
0.00034
|
NM_000466.3(PEX1):c.1360-7C>T
|
rs371890000
|
0.00029
|
NM_000466.3(PEX1):c.2528G>A (p.Gly843Asp)
|
rs61750420
|
0.00025
|
NM_000466.3(PEX1):c.1725G>A (p.Leu575=)
|
rs150667796
|
0.00022
|
NM_000466.3(PEX1):c.627G>A (p.Met209Ile)
|
rs200752969
|
0.00016
|
NM_000466.3(PEX1):c.1587+5T>C
|
rs199526105
|
0.00011
|
NM_000466.3(PEX1):c.1369A>G (p.Ile457Val)
|
rs561561515
|
0.00007
|
NM_000466.3(PEX1):c.1042A>G (p.Thr348Ala)
|
rs371309198
|
0.00006
|
NM_000466.3(PEX1):c.2057A>G (p.Gln686Arg)
|
rs201016626
|
0.00006
|
NM_000466.3(PEX1):c.1441G>A (p.Val481Ile)
|
rs139919229
|
0.00005
|
NM_000466.3(PEX1):c.147G>A (p.Val49=)
|
rs202230667
|
0.00005
|
NM_000466.3(PEX1):c.2383C>T (p.Arg795Ter)
|
rs61750418
|
0.00005
|
NM_000466.3(PEX1):c.952G>A (p.Asp318Asn)
|
rs754893068
|
0.00004
|
NM_000466.3(PEX1):c.1913A>C (p.Glu638Ala)
|
rs775544654
|
0.00003
|
NM_000466.3(PEX1):c.1239+1G>T
|
rs756876301
|
0.00002
|
NM_000466.3(PEX1):c.130-1G>T
|
rs1028247729
|
0.00002
|
NM_000466.3(PEX1):c.1952_1960dup (p.Trp653_Met654insThrValTrp)
|
rs398123408
|
0.00002
|
NM_000466.3(PEX1):c.2072C>T (p.Ala691Val)
|
rs150351763
|
0.00002
|
NM_000466.3(PEX1):c.2455C>T (p.Arg819Cys)
|
rs983157165
|
0.00002
|
NM_000466.3(PEX1):c.2730del (p.Leu910fs)
|
rs61750423
|
0.00002
|
NM_000466.3(PEX1):c.782_783del (p.Gln261fs)
|
rs749067142
|
0.00002
|
NM_000466.3(PEX1):c.1671-13A>G
|
rs757960956
|
0.00001
|
NM_000466.3(PEX1):c.1777G>A (p.Gly593Arg)
|
rs61750407
|
0.00001
|
NM_000466.3(PEX1):c.1945T>G (p.Ser649Ala)
|
rs1251466114
|
0.00001
|
NM_000466.3(PEX1):c.1991T>C (p.Leu664Pro)
|
rs121434455
|
0.00001
|
NM_000466.3(PEX1):c.2230C>T (p.Gln744Ter)
|
rs398123409
|
0.00001
|
NM_000466.3(PEX1):c.2363T>C (p.Val788Ala)
|
rs886062505
|
0.00001
|
NM_000466.3(PEX1):c.2408C>T (p.Thr803Ile)
|
rs750911436
|
0.00001
|
NM_000466.3(PEX1):c.2518_2520del (p.Asp840del)
|
rs1385204416
|
0.00001
|
NM_000466.3(PEX1):c.2614C>T (p.Arg872Ter)
|
rs61750422
|
0.00001
|
NM_000466.3(PEX1):c.2767C>T (p.Arg923Trp)
|
rs780992963
|
0.00001
|
NM_000466.3(PEX1):c.547C>T (p.Arg183Ter)
|
rs149806989
|
0.00001
|
NM_000466.3(PEX1):c.724G>A (p.Val242Ile)
|
rs764044654
|
0.00001
|
NM_000466.3(PEX1):c.830A>G (p.Gln277Arg)
|
rs886062506
|
0.00001
|
NC_000007.14:g.(?_92487437)_(92487561_?)del
|
|
|
NC_000007.14:g.(?_92509319)_(92509421_?)del
|
|
|
NM_000466.2(PEX1):c.2010_2018del (p.Ala672_Pro674del)
|
rs1357462196
|
|
NM_000466.3(PEX1):c.1074_1075del (p.Lys359fs)
|
rs1057517488
|
|
NM_000466.3(PEX1):c.1076del (p.Lys359fs)
|
rs1057517465
|
|
NM_000466.3(PEX1):c.1101_1121del (p.Gln367_Asp373del)
|
rs1554375280
|
|
NM_000466.3(PEX1):c.1108del (p.Ile370fs)
|
rs61750406
|
|
NM_000466.3(PEX1):c.1108dup (p.Ile370fs)
|
rs61750406
|
|
NM_000466.3(PEX1):c.1142C>A (p.Ala381Asp)
|
rs73404416
|
|
NM_000466.3(PEX1):c.1155del (p.Gln385_Val386insTer)
|
rs1057517520
|
|
NM_000466.3(PEX1):c.122TGC[3] (p.Leu42dup)
|
rs1554378340
|
|
NM_000466.3(PEX1):c.1239+1G>A
|
rs756876301
|
|
NM_000466.3(PEX1):c.1240_1359del (p.Ile414_Leu453del)
|
rs2116220949
|
|
NM_000466.3(PEX1):c.129+10C>T
|
rs886062508
|
|
NM_000466.3(PEX1):c.130-1G>C
|
rs1028247729
|
|
NM_000466.3(PEX1):c.1380A>C (p.Glu460Asp)
|
rs565049190
|
|
NM_000466.3(PEX1):c.1414C>T (p.Gln472Ter)
|
rs1554373801
|
|
NM_000466.3(PEX1):c.1439del (p.Leu480fs)
|
rs1554373787
|
|
NM_000466.3(PEX1):c.1483+1G>A
|
rs1585244586
|
|
NM_000466.3(PEX1):c.1501_1502del (p.Leu501fs)
|
rs786204743
|
|
NM_000466.3(PEX1):c.1522dup (p.Glu508fs)
|
rs1057517463
|
|
NM_000466.3(PEX1):c.1524AAAAGA[1] (p.508EK[1])
|
rs1554373613
|
|
NM_000466.3(PEX1):c.1527del (p.Glu510fs)
|
rs1057517497
|
|
NM_000466.3(PEX1):c.1528G>T (p.Glu510Ter)
|
rs754983126
|
|
NM_000466.3(PEX1):c.1533del (p.Asp512fs)
|
rs2116205361
|
|
NM_000466.3(PEX1):c.1587+1G>A
|
rs1057517469
|
|
NM_000466.3(PEX1):c.1587+2T>C
|
rs1554373578
|
|
NM_000466.3(PEX1):c.1593_1595del (p.Leu532del)
|
rs1554373273
|
|
NM_000466.3(PEX1):c.1670+1G>A
|
rs1057517490
|
|
NM_000466.3(PEX1):c.1670+1G>T
|
rs1057517490
|
|
NM_000466.3(PEX1):c.1670+5G>T
|
rs201343162
|
|
NM_000466.3(PEX1):c.1688G>A (p.Gly563Asp)
|
rs2116181769
|
|
NM_000466.3(PEX1):c.1716C>A (p.His572Gln)
|
rs1792228135
|
|
NM_000466.3(PEX1):c.1716_1717del (p.His572fs)
|
rs786204606
|
|
NM_000466.3(PEX1):c.1727dup (p.Arg577fs)
|
rs1585238595
|
|
NM_000466.3(PEX1):c.1729C>A (p.Arg577Ser)
|
rs200991412
|
|
NM_000466.3(PEX1):c.1743_1796del (p.Gln582_Gly599del)
|
rs1554372756
|
|
NM_000466.3(PEX1):c.1765G>T (p.Gly589Ter)
|
rs1057517489
|
|
NM_000466.3(PEX1):c.1804-12A>G
|
rs143041528
|
|
NM_000466.3(PEX1):c.1829_1830del (p.Lys610fs)
|
rs1562857333
|
|
NM_000466.3(PEX1):c.1838_1839dup (p.Lys614fs)
|
rs1554372561
|
|
NM_000466.3(PEX1):c.1842del (p.Glu615fs)
|
rs267608176
|
|
NM_000466.3(PEX1):c.1886_1887del (p.Asp628_Cys629insTer)
|
rs1398892633
|
|
NM_000466.3(PEX1):c.1890del (p.Ala631fs)
|
rs2116175944
|
|
NM_000466.3(PEX1):c.1897C>T (p.Arg633Ter)
|
rs61750409
|
|
NM_000466.3(PEX1):c.1901-14T>C
|
rs1792111444
|
|
NM_000466.3(PEX1):c.1906_2064del (p.Arg636_Leu688del)
|
rs1554372074
|
|
NM_000466.3(PEX1):c.1908del (p.Arg636fs)
|
rs1057517478
|
|
NM_000466.3(PEX1):c.1921C>T (p.Gln641Ter)
|
rs1057517464
|
|
NM_000466.3(PEX1):c.1926_1927delinsC (p.Lys642fs)
|
rs1057517529
|
|
NM_000466.3(PEX1):c.1927del (p.Thr643fs)
|
rs1554372180
|
|
NM_000466.3(PEX1):c.1927dup (p.Thr643fs)
|
rs1554372180
|
|
NM_000466.3(PEX1):c.1961_1962insCAGTGTGAA (p.Met654delinsIleSerValLys)
|
|
|
NM_000466.3(PEX1):c.1964_1970dup (p.Val658fs)
|
rs1057517486
|
|
NM_000466.3(PEX1):c.2034_2035del (p.His678fs)
|
rs61750412
|
|
NM_000466.3(PEX1):c.2039_2050del (p.Pro680_Val683del)
|
rs1554372090
|
|
NM_000466.3(PEX1):c.2071+2T>C
|
rs1478905473
|
|
NM_000466.3(PEX1):c.2097dup (p.Ile700fs)
|
rs61750415
|
|
NM_000466.3(PEX1):c.2099T>C (p.Ile700Thr)
|
rs1792017598
|
|
NM_000466.3(PEX1):c.2137C>T (p.Gln713Ter)
|
rs1057517468
|
|
NM_000466.3(PEX1):c.2140_2145dup (p.712_713SQ[3])
|
rs1554371691
|
|
NM_000466.3(PEX1):c.2162_2166del (p.Leu721fs)
|
rs1057517499
|
|
NM_000466.3(PEX1):c.2262_2264del (p.Lys754del)
|
rs1554371157
|
|
NM_000466.3(PEX1):c.2306T>C (p.Leu769Pro)
|
rs767182250
|
|
NM_000466.3(PEX1):c.2391_2392del (p.Arg798fs)
|
rs61750414
|
|
NM_000466.3(PEX1):c.2400_2402dup (p.Ile801dup)
|
rs1554371019
|
|
NM_000466.3(PEX1):c.2443C>T (p.Gln815Ter)
|
rs1306607552
|
|
NM_000466.3(PEX1):c.2488_2489dup (p.Asn830fs)
|
rs1554370868
|
|
NM_000466.3(PEX1):c.2489dup (p.Asn830fs)
|
rs1554370868
|
|
NM_000466.3(PEX1):c.2584-10T>C
|
rs375129444
|
|
NM_000466.3(PEX1):c.2584-10del
|
rs5885806
|
|
NM_000466.3(PEX1):c.2584-11_2584-10del
|
rs5885806
|
|
NM_000466.3(PEX1):c.2617C>T (p.Gln873Ter)
|
rs1057517470
|
|
NM_000466.3(PEX1):c.2633TGT[1] (p.Leu879del)
|
rs886043984
|
|
NM_000466.3(PEX1):c.2686C>T (p.Arg896Ter)
|
rs1057517485
|
|
NM_000466.3(PEX1):c.2719-1G>T
|
|
|
NM_000466.3(PEX1):c.2719-2A>G
|
rs1554369234
|
|
NM_000466.3(PEX1):c.2723del (p.Pro908fs)
|
rs1057517503
|
|
NM_000466.3(PEX1):c.273+1G>A
|
rs1554376597
|
|
NM_000466.3(PEX1):c.2760del (p.Ala921fs)
|
rs1256376226
|
|
NM_000466.3(PEX1):c.346T>C (p.Trp116Arg)
|
|
|
NM_000466.3(PEX1):c.348G>A (p.Trp116Ter)
|
rs1057517487
|
|
NM_000466.3(PEX1):c.357+1G>A
|
rs866144313
|
|
NM_000466.3(PEX1):c.357+202_1170del
|
|
|
NM_000466.3(PEX1):c.358-1G>T
|
rs1057517479
|
|
NM_000466.3(PEX1):c.358-2A>C
|
rs1057517500
|
|
NM_000466.3(PEX1):c.358-2A>G
|
rs1057517500
|
|
NM_000466.3(PEX1):c.403C>T (p.Arg135Ter)
|
rs201415996
|
|
NM_000466.3(PEX1):c.431dup (p.Val145fs)
|
rs1057517506
|
|
NM_000466.3(PEX1):c.468A>G (p.Gln156=)
|
rs149729088
|
|
NM_000466.3(PEX1):c.472+1G>A
|
rs762852144
|
|
NM_000466.3(PEX1):c.473-1G>A
|
rs1554375661
|
|
NM_000466.3(PEX1):c.473-1G>C
|
rs1554375661
|
|
NM_000466.3(PEX1):c.484C>A (p.Pro162Thr)
|
|
|
NM_000466.3(PEX1):c.569C>A (p.Ser190Ter)
|
rs1554375599
|
|
NM_000466.3(PEX1):c.578A>G (p.Asp193Gly)
|
rs886062507
|
|
NM_000466.3(PEX1):c.643_647del (p.Thr215fs)
|
rs786204544
|
|
NM_000466.3(PEX1):c.734del (p.Leu245fs)
|
rs1057517522
|
|
NM_000466.3(PEX1):c.760dup (p.Ser254fs)
|
rs1554375511
|
|
NM_000466.3(PEX1):c.831_834del (p.Ser278fs)
|
rs2116245323
|
|
NM_000466.3(PEX1):c.892_895dup (p.Asn299delinsIleTer)
|
rs1057517505
|
|
NM_000466.3(PEX1):c.911_912del (p.Ser304fs)
|
rs786204638
|
|
NM_000466.3(PEX1):c.927C>G (p.His309Gln)
|
rs2116244426
|
|
NM_000466.3(PEX1):c.96G>A (p.Pro32=)
|
rs1445565547
|
|