NM_002617.4(PEX10):c.932G>A (p.Arg311Gln)
|
rs724160001
|
0.00003
|
NM_002617.4(PEX10):c.113-1G>A
|
rs867305222
|
0.00002
|
NM_002617.4(PEX10):c.1A>G (p.Met1Val)
|
rs886041314
|
0.00002
|
NM_002617.4(PEX10):c.868C>G (p.His290Asp)
|
rs61752094
|
0.00002
|
NM_002617.4(PEX10):c.373C>T (p.Arg125Ter)
|
rs61750434
|
0.00001
|
NM_002617.4(PEX10):c.776+2T>C
|
rs1335685844
|
0.00001
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NM_002617.4(PEX10):c.827G>T (p.Cys276Phe)
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rs1414973726
|
0.00001
|
NM_002617.4(PEX10):c.913-2A>C
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rs758250423
|
0.00001
|
NC_000001.10:g.(?_2337205)_(2338414_?)del
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|
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NM_002617.4(PEX10):c.113-1G>C
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|
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NM_002617.4(PEX10):c.125G>A (p.Trp42Ter)
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|
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NM_002617.4(PEX10):c.135G>A (p.Trp45Ter)
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NM_002617.4(PEX10):c.13_28delinsCCGCCAGCACCTGCGCCGCC (p.Ala5fs)
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|
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NM_002617.4(PEX10):c.142dup (p.Glu48fs)
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|
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NM_002617.4(PEX10):c.157_158del (p.Ser53fs)
|
rs1384671249
|
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NM_002617.4(PEX10):c.200A>G (p.Gln67Arg)
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|
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NM_002617.4(PEX10):c.20del (p.Ser7fs)
|
rs1553232926
|
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NM_002617.4(PEX10):c.219C>G (p.Tyr73Ter)
|
rs531987102
|
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NM_002617.4(PEX10):c.222_223del (p.Ser75fs)
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|
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NM_002617.4(PEX10):c.247_251del (p.Arg83fs)
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|
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NM_002617.4(PEX10):c.26del (p.Pro9fs)
|
rs1553232917
|
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NM_002617.4(PEX10):c.295del (p.His99fs)
|
rs1557910651
|
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NM_002617.4(PEX10):c.335_338del (p.Pro112fs)
|
rs2100429450
|
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NM_002617.4(PEX10):c.338del (p.Leu113fs)
|
rs878853044
|
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NM_002617.4(PEX10):c.346_363delinsTGGGCCCCTG (p.Glu116fs)
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|
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NM_002617.4(PEX10):c.352C>T (p.Gln118Ter)
|
rs369965266
|
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NM_002617.4(PEX10):c.401_416dup (p.Gly140fs)
|
rs2100429011
|
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NM_002617.4(PEX10):c.408_423dup (p.Arg142fs)
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|
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NM_002617.4(PEX10):c.424_425dup (p.Arg143fs)
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|
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NM_002617.4(PEX10):c.445_452del (p.Thr149fs)
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|
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NM_002617.4(PEX10):c.4del (p.Ala2fs)
|
rs62636524
|
|
NM_002617.4(PEX10):c.522_523del (p.Gln175fs)
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|
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NM_002617.4(PEX10):c.542G>A (p.Trp181Ter)
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|
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NM_002617.4(PEX10):c.551del (p.Ile184fs)
|
rs1557910202
|
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NM_002617.4(PEX10):c.587del (p.Thr196fs)
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NM_002617.4(PEX10):c.592del (p.Ile198fs)
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NM_002617.4(PEX10):c.600+1del
|
rs1553232077
|
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NM_002617.4(PEX10):c.600C>G (p.Tyr200Ter)
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|
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NM_002617.4(PEX10):c.601-18dup
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|
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NM_002617.4(PEX10):c.601-24_601-23del
|
rs1553231875
|
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NM_002617.4(PEX10):c.601-26_601-25delinsCTC
|
rs1553231888
|
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NM_002617.4(PEX10):c.601-38_601-37del
|
rs1553231896
|
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NM_002617.4(PEX10):c.601-61G>A
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|
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NM_002617.4(PEX10):c.618del (p.Gly208fs)
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NM_002617.4(PEX10):c.692_703del (p.Ser231_Gln235delinsTer)
|
rs768893724
|
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NM_002617.4(PEX10):c.703C>T (p.Gln235Ter)
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rs1295555837
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NM_002617.4(PEX10):c.746G>A (p.Trp249Ter)
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|
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NM_002617.4(PEX10):c.755_756del (p.His252fs)
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rs1325771720
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NM_002617.4(PEX10):c.761del (p.Gly254fs)
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rs1553231820
|
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NM_002617.4(PEX10):c.773_776+17del
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NM_002617.4(PEX10):c.776+1G>A
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NM_002617.4(PEX10):c.776+1G>C
|
rs869312935
|
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NM_002617.4(PEX10):c.776+2T>A
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rs1335685844
|
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NM_002617.4(PEX10):c.777-1G>A
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|
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NM_002617.4(PEX10):c.790G>T (p.Glu264Ter)
|
rs769251149
|
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NM_002617.4(PEX10):c.795_796del (p.Arg265fs)
|
rs1553231787
|
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NM_002617.4(PEX10):c.813_814del (p.Leu272fs)
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|
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NM_002617.4(PEX10):c.815del (p.Leu272fs)
|
rs1553231783
|
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NM_002617.4(PEX10):c.830T>C (p.Leu277Pro)
|
rs724160000
|
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NM_002617.4(PEX10):c.835G>T (p.Glu279Ter)
|
rs62641225
|
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NM_002617.4(PEX10):c.844_848del (p.His282fs)
|
|
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NM_002617.4(PEX10):c.868dup (p.His290fs)
|
|
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NM_002617.4(PEX10):c.8del (p.Pro3fs)
|
|
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NM_002617.4(PEX10):c.912+1G>A
|
rs1553231739
|
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NM_002617.4(PEX10):c.912+1G>C
|
rs1553231739
|
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NM_002617.4(PEX10):c.916del (p.Glu306fs)
|
rs2100419143
|
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