NM_000466.3(PEX1):c.2528G>A (p.Gly843Asp)
|
rs61750420
|
0.00025
|
NM_000466.3(PEX1):c.627G>A (p.Met209Ile)
|
rs200752969
|
0.00016
|
NM_000466.3(PEX1):c.2383C>T (p.Arg795Ter)
|
rs61750418
|
0.00005
|
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.2730del (p.Leu910fs)
|
rs61750423
|
0.00002
|
NM_000466.3(PEX1):c.782_783del (p.Gln261fs)
|
rs749067142
|
0.00002
|
NM_000466.3(PEX1):c.1777G>A (p.Gly593Arg)
|
rs61750407
|
0.00001
|
NM_000466.3(PEX1):c.180G>A (p.Trp60Ter)
|
rs1408895107
|
0.00001
|
NM_000466.3(PEX1):c.1991T>C (p.Leu664Pro)
|
rs121434455
|
0.00001
|
NM_000466.3(PEX1):c.2071+1G>T
|
rs267608177
|
0.00001
|
NM_000466.3(PEX1):c.2230C>T (p.Gln744Ter)
|
rs398123409
|
0.00001
|
NM_000466.3(PEX1):c.2583+1G>T
|
rs771586413
|
0.00001
|
NM_000466.3(PEX1):c.2719-1G>A
|
rs1791673946
|
0.00001
|
NM_000466.3(PEX1):c.547C>T (p.Arg183Ter)
|
rs149806989
|
0.00001
|
NM_000466.3(PEX1):c.1074_1075del (p.Lys359fs)
|
rs1057517488
|
|
NM_000466.3(PEX1):c.1076del (p.Lys359fs)
|
rs1057517465
|
|
NM_000466.3(PEX1):c.1099C>T (p.Gln367Ter)
|
|
|
NM_000466.3(PEX1):c.1108del (p.Ile370fs)
|
rs61750406
|
|
NM_000466.3(PEX1):c.1131del (p.Asp378fs)
|
rs886043479
|
|
NM_000466.3(PEX1):c.1155del (p.Gln385_Val386insTer)
|
rs1057517520
|
|
NM_000466.3(PEX1):c.1174G>T (p.Glu392Ter)
|
|
|
NM_000466.3(PEX1):c.1239+1G>A
|
rs756876301
|
|
NM_000466.3(PEX1):c.129+1G>A
|
rs2116298327
|
|
NM_000466.3(PEX1):c.130-1G>C
|
rs1028247729
|
|
NM_000466.3(PEX1):c.130-2A>T
|
rs1585260993
|
|
NM_000466.3(PEX1):c.1321del (p.Ile441fs)
|
|
|
NM_000466.3(PEX1):c.1340T>G (p.Leu447Ter)
|
rs1585248089
|
|
NM_000466.3(PEX1):c.1351_1354dup (p.Asn452fs)
|
rs1792596054
|
|
NM_000466.3(PEX1):c.1359+1G>C
|
|
|
NM_000466.3(PEX1):c.1363A>T (p.Lys455Ter)
|
|
|
NM_000466.3(PEX1):c.1374_1375delinsA (p.Ser458fs)
|
|
|
NM_000466.3(PEX1):c.1414C>T (p.Gln472Ter)
|
rs1554373801
|
|
NM_000466.3(PEX1):c.1439del (p.Leu480fs)
|
rs1554373787
|
|
NM_000466.3(PEX1):c.1468_1469del (p.Leu490fs)
|
|
|
NM_000466.3(PEX1):c.1492G>T (p.Glu498Ter)
|
|
|
NM_000466.3(PEX1):c.1501_1502del (p.Leu501fs)
|
rs786204743
|
|
NM_000466.3(PEX1):c.1522dup (p.Glu508fs)
|
rs1057517463
|
|
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.1552_1553delinsA (p.Leu518fs)
|
|
|
NM_000466.3(PEX1):c.1583_1587del (p.Ile528fs)
|
|
|
NM_000466.3(PEX1):c.1587+1G>A
|
rs1057517469
|
|
NM_000466.3(PEX1):c.1587+1G>T
|
|
|
NM_000466.3(PEX1):c.1587+2T>C
|
rs1554373578
|
|
NM_000466.3(PEX1):c.1611del (p.Glu538fs)
|
|
|
NM_000466.3(PEX1):c.1670+1G>A
|
rs1057517490
|
|
NM_000466.3(PEX1):c.1670+1G>T
|
rs1057517490
|
|
NM_000466.3(PEX1):c.1696_1697del (p.Ser566fs)
|
|
|
NM_000466.3(PEX1):c.1716_1717del (p.His572fs)
|
rs786204606
|
|
NM_000466.3(PEX1):c.1742G>C (p.Arg581Pro)
|
rs370483961
|
|
NM_000466.3(PEX1):c.1743_1796del (p.Gln582_Gly599del)
|
rs1554372756
|
|
NM_000466.3(PEX1):c.175_176del (p.Ser59fs)
|
|
|
NM_000466.3(PEX1):c.1765G>T (p.Gly589Ter)
|
rs1057517489
|
|
NM_000466.3(PEX1):c.1769_1770del (p.Leu590fs)
|
|
|
NM_000466.3(PEX1):c.1793_1803+1del
|
rs2116180739
|
|
NM_000466.3(PEX1):c.1801A>T (p.Lys601Ter)
|
|
|
NM_000466.3(PEX1):c.1815dup (p.Ser606fs)
|
|
|
NM_000466.3(PEX1):c.1817C>A (p.Ser606Ter)
|
|
|
NM_000466.3(PEX1):c.1822_1823del (p.Leu608fs)
|
|
|
NM_000466.3(PEX1):c.1838_1839dup (p.Lys614fs)
|
rs1554372561
|
|
NM_000466.3(PEX1):c.1840A>T (p.Lys614Ter)
|
|
|
NM_000466.3(PEX1):c.1842del (p.Glu615fs)
|
rs267608176
|
|
NM_000466.3(PEX1):c.1876A>T (p.Arg626Ter)
|
|
|
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.1895del (p.Leu632fs)
|
|
|
NM_000466.3(PEX1):c.1897C>T (p.Arg633Ter)
|
rs61750409
|
|
NM_000466.3(PEX1):c.1900+1G>A
|
rs770447891
|
|
NM_000466.3(PEX1):c.1900+2T>C
|
rs1562857198
|
|
NM_000466.3(PEX1):c.1901-1G>T
|
|
|
NM_000466.3(PEX1):c.1901-2A>G
|
|
|
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.205C>T (p.Gln69Ter)
|
|
|
NM_000466.3(PEX1):c.2071+2T>C
|
rs1478905473
|
|
NM_000466.3(PEX1):c.2072-1G>A
|
|
|
NM_000466.3(PEX1):c.2072-42_2085del
|
rs1792018845
|
|
NM_000466.3(PEX1):c.2137C>T (p.Gln713Ter)
|
rs1057517468
|
|
NM_000466.3(PEX1):c.2142_2143del (p.Gln715fs)
|
|
|
NM_000466.3(PEX1):c.2162_2166del (p.Leu721fs)
|
rs1057517499
|
|
NM_000466.3(PEX1):c.2199C>A (p.Cys733Ter)
|
|
|
NM_000466.3(PEX1):c.2212_2213del (p.Gln738fs)
|
|
|
NM_000466.3(PEX1):c.2227-1G>C
|
|
|
NM_000466.3(PEX1):c.2233A>T (p.Arg745Ter)
|
|
|
NM_000466.3(PEX1):c.2280_2281insG (p.Ile761fs)
|
|
|
NM_000466.3(PEX1):c.2353_2355delinsT (p.Thr785fs)
|
|
|
NM_000466.3(PEX1):c.2391_2392del (p.Arg798fs)
|
rs61750414
|
|
NM_000466.3(PEX1):c.2417-1G>T
|
|
|
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.249_250insT (p.Leu84fs)
|
rs1793076195
|
|
NM_000466.3(PEX1):c.253G>T (p.Gly85Ter)
|
|
|
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.2718+1G>A
|
|
|
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.273+2T>G
|
|
|
NM_000466.3(PEX1):c.2760del (p.Ala921fs)
|
rs1256376226
|
|
NM_000466.3(PEX1):c.2770dup (p.Asp924fs)
|
|
|
NM_000466.3(PEX1):c.2783+2T>C
|
rs1585224312
|
|
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+1G>C
|
rs866144313
|
|
NM_000466.3(PEX1):c.357+1G>T
|
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.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.496del (p.Tyr166fs)
|
|
|
NM_000466.3(PEX1):c.510_511insGTTATAAAATTTAT (p.Thr171fs)
|
|
|
NM_000466.3(PEX1):c.512_513delinsTTTAAACAAGCACTTCAAA (p.Thr171delinsIleTer)
|
|
|
NM_000466.3(PEX1):c.532_533del (p.Gln178fs)
|
|
|
NM_000466.3(PEX1):c.569C>A (p.Ser190Ter)
|
rs1554375599
|
|
NM_000466.3(PEX1):c.573del (p.Ala192fs)
|
rs1585255490
|
|
NM_000466.3(PEX1):c.629_630delinsA (p.Met210fs)
|
|
|
NM_000466.3(PEX1):c.643_647del (p.Thr215fs)
|
rs786204544
|
|
NM_000466.3(PEX1):c.659C>A (p.Ser220Ter)
|
|
|
NM_000466.3(PEX1):c.716C>G (p.Ser239Ter)
|
|
|
NM_000466.3(PEX1):c.734del (p.Leu245fs)
|
rs1057517522
|
|
NM_000466.3(PEX1):c.757_758delinsA (p.Phe253fs)
|
|
|
NM_000466.3(PEX1):c.760dup (p.Ser254fs)
|
rs1554375511
|
|
NM_000466.3(PEX1):c.805_806del (p.Glu269fs)
|
|
|
NM_000466.3(PEX1):c.892_895dup (p.Asn299delinsIleTer)
|
rs1057517505
|
|
NM_000466.3(PEX1):c.911_912del (p.Ser304fs)
|
rs786204638
|
|