NM_000286.3(PEX12):c.126+1G>T
|
rs144259891
|
0.00003
|
NM_000286.3(PEX12):c.538C>T (p.Arg180Ter)
|
rs61752103
|
0.00003
|
NM_000286.3(PEX12):c.604C>T (p.Arg202Ter)
|
rs61752105
|
0.00003
|
NM_000286.3(PEX12):c.1009C>T (p.Gln337Ter)
|
rs760739894
|
0.00001
|
NM_000286.3(PEX12):c.211C>T (p.Gln71Ter)
|
rs767447750
|
0.00001
|
NM_000286.3(PEX12):c.31del (p.Ala11fs)
|
rs1290469936
|
0.00001
|
NM_000286.3(PEX12):c.331C>T (p.Gln111Ter)
|
rs1056238409
|
0.00001
|
NM_000286.3(PEX12):c.49C>T (p.Gln17Ter)
|
rs888633730
|
0.00001
|
NM_000286.3(PEX12):c.680+1G>A
|
rs904972651
|
0.00001
|
NM_000286.3(PEX12):c.744dup (p.Thr249fs)
|
rs61752108
|
0.00001
|
NC_000017.11:g.35577561_35577592del
|
rs2142231221
|
|
NM_000286.3(PEX12):c.1039_1040del (p.Glu347fs)
|
rs2142228734
|
|
NM_000286.3(PEX12):c.1044ACA[1] (p.Gln349del)
|
rs267608184
|
|
NM_000286.3(PEX12):c.116del (p.His39fs)
|
rs2142231614
|
|
NM_000286.3(PEX12):c.122del (p.Val41fs)
|
|
|
NM_000286.3(PEX12):c.126+1G>A
|
rs144259891
|
|
NM_000286.3(PEX12):c.126+1G>C
|
|
|
NM_000286.3(PEX12):c.140C>G (p.Ser47Ter)
|
|
|
NM_000286.3(PEX12):c.151_154del (p.His51fs)
|
rs2142231234
|
|
NM_000286.3(PEX12):c.174del (p.Trp58fs)
|
rs2142231201
|
|
NM_000286.3(PEX12):c.20_21dup (p.Phe8fs)
|
|
|
NM_000286.3(PEX12):c.222T>A (p.Tyr74Ter)
|
rs765404768
|
|
NM_000286.3(PEX12):c.222dup (p.Leu75fs)
|
rs2142231111
|
|
NM_000286.3(PEX12):c.223_224del (p.Leu75fs)
|
rs1555549876
|
|
NM_000286.3(PEX12):c.260_261insAA (p.Tyr87Ter)
|
rs61752099
|
|
NM_000286.3(PEX12):c.268_269del (p.Lys90fs)
|
|
|
NM_000286.3(PEX12):c.268_271del (p.Lys90fs)
|
rs61752100
|
|
NM_000286.3(PEX12):c.286del (p.Asp96fs)
|
|
|
NM_000286.3(PEX12):c.305_306del (p.Arg102fs)
|
rs2142230957
|
|
NM_000286.3(PEX12):c.308dup (p.Leu103fs)
|
rs61752101
|
|
NM_000286.3(PEX12):c.334C>T (p.Gln112Ter)
|
rs776731688
|
|
NM_000286.3(PEX12):c.342G>A (p.Trp114Ter)
|
rs2142230890
|
|
NM_000286.3(PEX12):c.348dup (p.Ile117fs)
|
|
|
NM_000286.3(PEX12):c.379A>T (p.Lys127Ter)
|
|
|
NM_000286.3(PEX12):c.455G>A (p.Trp152Ter)
|
|
|
NM_000286.3(PEX12):c.459del (p.Lys153fs)
|
|
|
NM_000286.3(PEX12):c.460C>T (p.Arg154Ter)
|
rs1555549855
|
|
NM_000286.3(PEX12):c.471del (p.Ala158fs)
|
rs2142230667
|
|
NM_000286.3(PEX12):c.4del (p.Ala2fs)
|
|
|
NM_000286.3(PEX12):c.511del (p.Glu171fs)
|
rs945104524
|
|
NM_000286.3(PEX12):c.518G>A (p.Trp173Ter)
|
rs923109489
|
|
NM_000286.3(PEX12):c.51_54del (p.Gln17fs)
|
rs886041458
|
|
NM_000286.3(PEX12):c.530AAC[1] (p.Gln178del)
|
rs61752102
|
|
NM_000286.3(PEX12):c.541dup (p.Tyr181fs)
|
|
|
NM_000286.3(PEX12):c.543C>A (p.Tyr181Ter)
|
|
|
NM_000286.3(PEX12):c.569C>G (p.Ser190Ter)
|
|
|
NM_000286.3(PEX12):c.573_574dup (p.Leu192fs)
|
|
|
NM_000286.3(PEX12):c.611_612del (p.Thr204fs)
|
|
|
NM_000286.3(PEX12):c.625C>T (p.Gln209Ter)
|
rs61752106
|
|
NM_000286.3(PEX12):c.62_63del (p.Ile20_Phe21insTer)
|
rs2072797369
|
|
NM_000286.3(PEX12):c.644del (p.Pro215fs)
|
rs1199283977
|
|
NM_000286.3(PEX12):c.669del (p.Gln223fs)
|
|
|
NM_000286.3(PEX12):c.680_680+12del
|
|
|
NM_000286.3(PEX12):c.680_680+1delinsCA
|
rs2142230388
|
|
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.698dup (p.Asn233fs)
|
|
|
NM_000286.3(PEX12):c.69_76dup (p.Gln26delinsArgTer)
|
rs1238451790
|
|
NM_000286.3(PEX12):c.725del (p.Gly242fs)
|
|
|
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.76C>T (p.Gln26Ter)
|
|
|
NM_000286.3(PEX12):c.771del (p.Leu258fs)
|
rs1555549754
|
|
NM_000286.3(PEX12):c.775C>T (p.Gln259Ter)
|
|
|
NM_000286.3(PEX12):c.781del (p.Asp262fs)
|
rs754193088
|
|
NM_000286.3(PEX12):c.789G>A (p.Trp263Ter)
|
rs747099919
|
|
NM_000286.3(PEX12):c.795C>G (p.Tyr265Ter)
|
rs1429126106
|
|
NM_000286.3(PEX12):c.808del (p.Gln270fs)
|
|
|
NM_000286.3(PEX12):c.816dup (p.Ile273fs)
|
|
|
NM_000286.3(PEX12):c.829_832del (p.Thr277fs)
|
|
|
NM_000286.3(PEX12):c.842del (p.Thr281fs)
|
rs2072782816
|
|
NM_000286.3(PEX12):c.86del (p.Ser28_Leu29insTer)
|
|
|
NM_000286.3(PEX12):c.875_876del (p.Asn291_Ser292insTer)
|
|
|
NM_000286.3(PEX12):c.887del (p.Leu296fs)
|
|
|
NM_000286.3(PEX12):c.888_889del (p.Leu297fs)
|
rs398123301
|
|
NM_000286.3(PEX12):c.890T>G (p.Leu297Ter)
|
|
|
NM_000286.3(PEX12):c.894del (p.Lys299_Met300insTer)
|
rs398123302
|
|
NM_000286.3(PEX12):c.895A>T (p.Lys299Ter)
|
rs2142228982
|
|
NM_000286.3(PEX12):c.910_911del (p.Cys304fs)
|
rs867245161
|
|
NM_000286.3(PEX12):c.920_921del (p.Cys307fs)
|
rs2142228928
|
|
NM_000286.3(PEX12):c.959C>T (p.Ser320Phe)
|
rs28936697
|
|
NM_000286.3(PEX12):c.961_964del (p.Gly321fs)
|
rs749650201
|
|
NM_000286.3(PEX12):c.969_970del (p.Phe324fs)
|
rs2072781707
|
|
NM_000286.3(PEX12):c.987_988del (p.Phe330fs)
|
rs764657253
|
|