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.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.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.2518_2520del (p.Asp840del)
|
rs1385204416
|
0.00001
|
NM_000466.3(PEX1):c.547C>T (p.Arg183Ter)
|
rs149806989
|
0.00001
|
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.1131del (p.Asp378fs)
|
rs886043479
|
|
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.129+10C>T
|
rs886062508
|
|
NM_000466.3(PEX1):c.130-1G>C
|
rs1028247729
|
|
NM_000466.3(PEX1):c.1414C>T (p.Gln472Ter)
|
rs1554373801
|
|
NM_000466.3(PEX1):c.1439del (p.Leu480fs)
|
rs1554373787
|
|
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.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.1716_1717del (p.His572fs)
|
rs786204606
|
|
NM_000466.3(PEX1):c.1729C>A (p.Arg577Ser)
|
rs200991412
|
|
NM_000466.3(PEX1):c.1765G>T (p.Gly589Ter)
|
rs1057517489
|
|
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.1897C>T (p.Arg633Ter)
|
rs61750409
|
|
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.1927dup (p.Thr643fs)
|
rs1554372180
|
|
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.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.2391_2392del (p.Arg798fs)
|
rs61750414
|
|
NM_000466.3(PEX1):c.2400_2402dup (p.Ile801dup)
|
rs1554371019
|
|
NM_000466.3(PEX1):c.2488_2489dup (p.Asn830fs)
|
rs1554370868
|
|
NM_000466.3(PEX1):c.2489dup (p.Asn830fs)
|
rs1554370868
|
|
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.2719-2A>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.348G>A (p.Trp116Ter)
|
rs1057517487
|
|
NM_000466.3(PEX1):c.357+1G>A
|
rs866144313
|
|
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.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.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.892_895dup (p.Asn299delinsIleTer)
|
rs1057517505
|
|
NM_000466.3(PEX1):c.911_912del (p.Ser304fs)
|
rs786204638
|
|