NM_000466.3(PEX1):c.2528G>A (p.Gly843Asp)
|
rs61750420
|
0.00025
|
NM_000288.4(PEX7):c.120C>G (p.Tyr40Ter)
|
rs61753238
|
0.00010
|
NM_002617.4(PEX10):c.704dup (p.Leu236fs)
|
rs61750435
|
0.00008
|
NM_001127649.3(PEX26):c.292C>T (p.Arg98Trp)
|
rs62641228
|
0.00007
|
NM_000288.4(PEX7):c.340-10A>G
|
rs267608255
|
0.00006
|
NM_000318.3(PEX2):c.355C>T (p.Arg119Ter)
|
rs61752123
|
0.00006
|
NM_002617.4(PEX10):c.814_815del (p.Leu272fs)
|
rs61752093
|
0.00006
|
NM_000286.3(PEX12):c.538C>T (p.Arg180Ter)
|
rs61752103
|
0.00004
|
NM_003846.3(PEX11B):c.277C>T (p.Arg93Ter)
|
rs781939614
|
0.00004
|
NM_000287.4(PEX6):c.2735C>T (p.Ala912Val)
|
rs62641232
|
0.00003
|
NM_000288.4(PEX7):c.653C>T (p.Ala218Val)
|
rs121909151
|
0.00003
|
NM_001351132.2(PEX5):c.1279C>T (p.Arg427Ter)
|
rs61752137
|
0.00003
|
NM_002617.4(PEX10):c.730C>T (p.Arg244Ter)
|
rs61752092
|
0.00003
|
NM_002617.4(PEX10):c.932G>A (p.Arg311Gln)
|
rs724160001
|
0.00003
|
NM_002857.4(PEX19):c.763dup (p.Met255fs)
|
rs267608186
|
0.00003
|
NM_000287.4(PEX6):c.1962-1G>A
|
rs267608229
|
0.00002
|
NM_000287.4(PEX6):c.510dup (p.Gly171fs)
|
rs1491384052
|
0.00002
|
NM_000318.3(PEX2):c.163G>A (p.Glu55Lys)
|
rs61752119
|
0.00002
|
NM_002617.4(PEX10):c.600+1G>A
|
rs267608183
|
0.00002
|
NM_000286.3(PEX12):c.744dup (p.Thr249fs)
|
rs61752108
|
0.00001
|
NM_000288.4(PEX7):c.345T>G (p.Tyr115Ter)
|
rs121909154
|
0.00001
|
NM_000466.3(PEX1):c.1991T>C (p.Leu664Pro)
|
rs121434455
|
0.00001
|
NM_001127649.3(PEX26):c.134T>C (p.Leu45Pro)
|
rs61752132
|
0.00001
|
NM_002617.4(PEX10):c.373C>T (p.Arg125Ter)
|
rs61750434
|
0.00001
|
NM_003630.3(PEX3):c.898C>T (p.Arg300Ter)
|
rs201179294
|
0.00001
|
NM_003630.3(PEX3):c.991G>A (p.Gly331Arg)
|
rs1057523689
|
0.00001
|
NM_003846.3(PEX11B):c.64C>T (p.Gln22Ter)
|
rs397515419
|
0.00001
|
NM_004813.4(PEX16):c.526C>T (p.Arg176Ter)
|
rs61752117
|
0.00001
|
NC_000002.12:g.60947640_61094952del
|
|
|
NG_008340.2:g.(25377_66267)_(66353_129292)del
|
|
|
NM_000286.3(PEX12):c.684_687del (p.Ser229fs)
|
rs62642859
|
|
NM_000286.3(PEX12):c.691A>T (p.Lys231Ter)
|
rs104894616
|
|
NM_000286.3(PEX12):c.730_733dup (p.Leu245fs)
|
rs61752107
|
|
NM_000286.3(PEX12):c.765_766dup (p.Phe256fs)
|
rs1057519507
|
|
NM_000286.3(PEX12):c.888_889del (p.Leu297fs)
|
rs398123301
|
|
NM_000287.4(PEX6):c.1130+1G>A
|
rs267608213
|
|
NM_000287.4(PEX6):c.1301del (p.Ser434fs)
|
rs62641231
|
|
NM_000287.4(PEX6):c.1601T>C (p.Leu534Pro)
|
rs387906809
|
|
NM_000287.4(PEX6):c.1688+1G>A
|
rs112298166
|
|
NM_000287.4(PEX6):c.2094G>A (p.Lys698=)
|
rs2481209830
|
|
NM_000287.4(PEX6):c.2398_2417delinsT (p.Ile800fs)
|
rs62653602
|
|
NM_000287.4(PEX6):c.621_882+2del
|
rs1554128347
|
|
NM_000287.4(PEX6):c.[*438TAAA[1];2578C>T]
|
|
|
NM_000288.4(PEX7):c.13_19dup (p.Gly7fs)
|
rs62636519
|
|
NM_000288.4(PEX7):c.40A>C (p.Thr14Pro)
|
rs61753233
|
|
NM_000288.4(PEX7):c.45_52dup (p.His18fs)
|
rs63535662
|
|
NM_000318.3(PEX2):c.279_283del (p.Arg94fs)
|
rs61752122
|
|
NM_000318.3(PEX2):c.669G>A (p.Trp223Ter)
|
rs61752127
|
|
NM_000318.3(PEX2):c.739T>C (p.Cys247Arg)
|
rs61752128
|
|
NM_000318.3(PEX2):c.865dup (p.Ser289fs)
|
rs724160029
|
|
NM_000466.3(PEX1):c.1906_2064del (p.Arg636_Leu688del)
|
rs1554372074
|
|
NM_000466.3(PEX1):c.2097dup (p.Ile700fs)
|
rs61750415
|
|
NM_000466.3(PEX1):c.2916del (p.Gly973fs)
|
rs61750426
|
|
NM_001127649.3(PEX26):c.230+1G>T
|
rs267608190
|
|
NM_001127649.3(PEX26):c.254dup (p.Cys86fs)
|
rs61752133
|
|
NM_001127649.3(PEX26):c.265G>A (p.Gly89Arg)
|
rs28940308
|
|
NM_001127649.3(PEX26):c.296G>A (p.Trp99Ter)
|
rs62641229
|
|
NM_001127649.3(PEX26):c.2T>C (p.Met1Thr)
|
rs74315506
|
|
NM_001127649.3(PEX26):c.34dup (p.Leu12fs)
|
rs61752129
|
|
NM_001127649.3(PEX26):c.[34dup;669_814+1del]
|
|
|
NM_001351132.2(PEX5):c.1578T>G (p.Asn526Lys)
|
rs61752138
|
|
NM_002617.4(PEX10):c.2T>C (p.Met1Thr)
|
rs724160002
|
|
NM_002617.4(PEX10):c.337del (p.Leu113fs)
|
rs724159999
|
|
NM_002617.4(PEX10):c.830T>C (p.Leu277Pro)
|
rs724160000
|
|
NM_002617.4(PEX10):c.870C>G (p.His290Gln)
|
rs61752095
|
|
NM_002617.4:c.13_28delinsCCGCCAGCACCTGCGCCGCC
|
rs2522307302
|
|
NM_002618.4(PEX13):c.107_120del (p.Gly36fs)
|
rs2104803129
|
|
NM_002618.4(PEX13):c.702G>A (p.Trp234Ter)
|
rs104893661
|
|
NM_002618.4(PEX13):c.937T>G (p.Trp313Gly)
|
rs61752113
|
|
NM_002618.4(PEX13):c.977T>C (p.Ile326Thr)
|
rs61752115
|
|
NM_002857.4(PEX19):c.320del (p.Lys107fs)
|
rs1571138735
|
|
NM_003630.3(PEX3):c.543dup (p.Val182fs)
|
rs62641230
|
|
NM_003630.3(PEX3):c.942-8T>G
|
rs267608193
|
|
NM_004565.3(PEX14):c.553C>T (p.Gln185Ter)
|
rs61752116
|
|
NM_004813.4(PEX16):c.952+118_*82del
|
rs2494874800
|
|
NM_004813.4(PEX16):c.952+2T>C
|
rs267608185
|
|
NM_004813.4(PEX16):c.984del (p.Ile330fs)
|
rs1590793006
|
|
NM_004813.4(PEX16):c.992A>G (p.Tyr331Cys)
|
rs397514472
|
|