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.1579A>G (p.Thr527Ala)
|
rs144942544
|
0.00217
|
NM_000466.3(PEX1):c.2528G>A (p.Gly843Asp)
|
rs61750420
|
0.00025
|
NM_000466.3(PEX1):c.147G>A (p.Val49=)
|
rs202230667
|
0.00005
|
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.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.130-1G>C
|
rs1028247729
|
|
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.1587+1G>A
|
rs1057517469
|
|
NM_000466.3(PEX1):c.1670+1G>A
|
rs1057517490
|
|
NM_000466.3(PEX1):c.1670+1G>T
|
rs1057517490
|
|
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.1765G>T (p.Gly589Ter)
|
rs1057517489
|
|
NM_000466.3(PEX1):c.1842del (p.Glu615fs)
|
rs267608176
|
|
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.1964_1970dup (p.Val658fs)
|
rs1057517486
|
|
NM_000466.3(PEX1):c.2034_2035del (p.His678fs)
|
rs61750412
|
|
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.2162_2166del (p.Leu721fs)
|
rs1057517499
|
|
NM_000466.3(PEX1):c.2584-10T>C
|
rs375129444
|
|
NM_000466.3(PEX1):c.2584-10del
|
rs5885806
|
|
NM_000466.3(PEX1):c.2617C>T (p.Gln873Ter)
|
rs1057517470
|
|
NM_000466.3(PEX1):c.2686C>T (p.Arg896Ter)
|
rs1057517485
|
|
NM_000466.3(PEX1):c.2723del (p.Pro908fs)
|
rs1057517503
|
|
NM_000466.3(PEX1):c.2783+6T>C
|
rs1585224298
|
|
NM_000466.3(PEX1):c.348G>A (p.Trp116Ter)
|
rs1057517487
|
|
NM_000466.3(PEX1):c.358-1G>T
|
rs1057517479
|
|
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.734del (p.Leu245fs)
|
rs1057517522
|
|
NM_000466.3(PEX1):c.892_895dup (p.Asn299delinsIleTer)
|
rs1057517505
|
|
NM_000466.3(PEX1):c.927C>G (p.His309Gln)
|
rs2116244426
|
|