NM_007262.5(PARK7):c.-99T>C
|
rs226249
|
0.66453
|
NM_007262.5(PARK7):c.323-14A>G
|
rs72854882
|
0.05780
|
NM_007262.5(PARK7):c.-70C>T
|
rs11121064
|
0.05022
|
NM_007262.5(PARK7):c.-22C>T
|
rs11548933
|
0.04157
|
NM_007262.5(PARK7):c.234C>T (p.Gly78=)
|
rs11548937
|
0.03501
|
NM_007262.5(PARK7):c.293G>A (p.Arg98Gln)
|
rs71653619
|
0.00688
|
NM_007262.5(PARK7):c.*124C>T
|
rs147437667
|
0.00484
|
NM_007262.5(PARK7):c.166G>A (p.Ala56Thr)
|
rs114601558
|
0.00448
|
NM_007262.5(PARK7):c.252+18A>G
|
rs147308281
|
0.00275
|
NM_007262.5(PARK7):c.501A>G (p.Ala167=)
|
rs71653621
|
0.00099
|
NM_007262.5(PARK7):c.446A>C (p.Asp149Ala)
|
rs74315352
|
0.00061
|
NM_007262.5(PARK7):c.535G>A (p.Ala179Thr)
|
rs71653622
|
0.00048
|
NM_007262.5(PARK7):c.410-9A>G
|
rs143947415
|
0.00016
|
NM_007262.5(PARK7):c.310G>A (p.Ala104Thr)
|
rs774005786
|
0.00013
|
NM_007262.5(PARK7):c.*125G>A
|
rs779587926
|
0.00010
|
NM_007262.5(PARK7):c.-30G>C
|
rs886046544
|
0.00009
|
NM_007262.5(PARK7):c.83G>A (p.Arg28Gln)
|
rs142405016
|
0.00008
|
NM_007262.5(PARK7):c.328A>G (p.Thr110Ala)
|
rs45577037
|
0.00006
|
NM_007262.5(PARK7):c.-80T>A
|
rs140230911
|
0.00004
|
NM_007262.5(PARK7):c.429G>A (p.Glu143=)
|
rs140517273
|
0.00004
|
NM_007262.5(PARK7):c.471_473del (p.Pro158del)
|
rs764877312
|
0.00004
|
NM_007262.5(PARK7):c.91-5C>T
|
rs539876064
|
0.00004
|
NM_007262.5(PARK7):c.502A>G (p.Ile168Val)
|
rs374962638
|
0.00003
|
NM_007262.5(PARK7):c.56C>T (p.Thr19Met)
|
rs758016497
|
0.00003
|
NM_007262.5(PARK7):c.73G>A (p.Val25Ile)
|
rs781346135
|
0.00003
|
NM_007262.5(PARK7):c.91-4G>A
|
rs756040385
|
0.00003
|
NM_007262.5(PARK7):c.448G>A (p.Gly150Ser)
|
rs368420490
|
0.00002
|
NM_007262.5(PARK7):c.*49A>G
|
rs371482698
|
0.00001
|
NM_007262.5(PARK7):c.16G>T (p.Ala6Ser)
|
rs767539467
|
0.00001
|
NM_007262.5(PARK7):c.192G>C (p.Glu64Asp)
|
rs74315353
|
0.00001
|
NM_007262.5(PARK7):c.198A>G (p.Pro66=)
|
rs201258798
|
0.00001
|
NM_007262.5(PARK7):c.28C>G (p.Leu10Val)
|
rs1309873819
|
0.00001
|
NM_007262.5(PARK7):c.395A>G (p.Lys132Arg)
|
rs1640614977
|
0.00001
|
NM_007262.5(PARK7):c.437T>G (p.Val146Gly)
|
rs761919138
|
0.00001
|
NM_007262.5(PARK7):c.460A>G (p.Thr154Ala)
|
rs1472900688
|
0.00001
|
NM_007262.5(PARK7):c.59T>C (p.Val20Ala)
|
rs370430693
|
0.00001
|
NM_007262.5(PARK7):c.91-11C>T
|
rs1306465390
|
0.00001
|
NC_000001.10:g.(?_8022836)_(8031035_?)dup
|
|
|
NC_000001.10:g.(?_8022846)_(8037818_?)del
|
|
|
NC_000001.11:g.(?_7969325)_(7969424_?)del
|
|
|
NM_007262.4(PARK7):c.[-24+75_-24+92dup;487G>A]
|
|
|
NM_007262.5(PARK7):c.*185T>A
|
rs1640796249
|
|
NM_007262.5(PARK7):c.101C>T (p.Thr34Ile)
|
rs772272696
|
|
NM_007262.5(PARK7):c.103G>A (p.Val35Ile)
|
|
|
NM_007262.5(PARK7):c.105dup (p.Ala36fs)
|
rs781600849
|
|
NM_007262.5(PARK7):c.142C>T (p.Arg48Cys)
|
|
|
NM_007262.5(PARK7):c.191_192del (p.Glu64fs)
|
rs1553122929
|
|
NM_007262.5(PARK7):c.193-13dup
|
rs768623509
|
|
NM_007262.5(PARK7):c.193-17G>A
|
rs2151431064
|
|
NM_007262.5(PARK7):c.223G>A (p.Gly75Ser)
|
rs886046545
|
|
NM_007262.5(PARK7):c.233G>A (p.Gly78Asp)
|
rs2151431134
|
|
NM_007262.5(PARK7):c.252+8A>G
|
|
|
NM_007262.5(PARK7):c.252+8dup
|
rs781094807
|
|
NM_007262.5(PARK7):c.253T>C (p.Ser85Pro)
|
rs2151432344
|
|
NM_007262.5(PARK7):c.271A>G (p.Ile91Val)
|
rs2151432369
|
|
NM_007262.5(PARK7):c.273A>C (p.Ile91=)
|
|
|
NM_007262.5(PARK7):c.300C>T (p.Gly100=)
|
|
|
NM_007262.5(PARK7):c.302T>C (p.Leu101Pro)
|
rs2151432401
|
|
NM_007262.5(PARK7):c.309C>T (p.Ala103=)
|
|
|
NM_007262.5(PARK7):c.322+12G>A
|
rs1640453503
|
|
NM_007262.5(PARK7):c.322+6G>A
|
|
|
NM_007262.5(PARK7):c.322G>A (p.Gly108Ser)
|
rs1252815484
|
|
NM_007262.5(PARK7):c.323-10T>A
|
|
|
NM_007262.5(PARK7):c.323-16T>C
|
|
|
NM_007262.5(PARK7):c.323-20C>A
|
|
|
NM_007262.5(PARK7):c.399G>C (p.Met133Ile)
|
rs398124657
|
|
NM_007262.5(PARK7):c.409+18TTTG[3]
|
rs751547694
|
|
NM_007262.5(PARK7):c.409+18TTTG[5]
|
rs751547694
|
|
NM_007262.5(PARK7):c.425C>T (p.Ser142Phe)
|
rs1640786376
|
|
NM_007262.5(PARK7):c.444dup (p.Asp149fs)
|
|
|
NM_007262.5(PARK7):c.482G>C (p.Ser161Thr)
|
|
|
NM_007262.5(PARK7):c.494C>T (p.Ala165Val)
|
|
|
NM_007262.5(PARK7):c.497T>C (p.Leu166Pro)
|
rs28938172
|
|
NM_007262.5(PARK7):c.500C>G (p.Ala167Gly)
|
rs886046546
|
|
NM_007262.5(PARK7):c.511G>T (p.Ala171Ser)
|
rs777026628
|
|
NM_007262.5(PARK7):c.515T>A (p.Leu172Gln)
|
|
|
NM_007262.5(PARK7):c.534G>A (p.Ala178=)
|
|
|
NM_007262.5(PARK7):c.54G>A (p.Glu18=)
|
|
|
NM_007262.5(PARK7):c.78G>A (p.Met26Ile)
|
rs74315351
|
|
NM_007262.5(PARK7):c.82C>T (p.Arg28Ter)
|
rs374429170
|
|
NM_007262.5(PARK7):c.90+1dup
|
rs1578089802
|
|
NM_007262.5(PARK7):c.91-4G>C
|
|
|
NM_007262.5(PARK7):c.91A>G (p.Ile31Val)
|
rs749054218
|
|
NM_007262.5(PARK7):c.96G>A (p.Lys32=)
|
|
|
nsv513788
|
|
|