NM_000194.3(HPRT1):c.480C>T (p.Val160=)
|
rs148780933
|
0.00170
|
NM_000194.3(HPRT1):c.384+19A>G
|
rs183698879
|
0.00164
|
NM_000194.3(HPRT1):c.486-11G>A
|
rs775260163
|
0.00024
|
NM_000194.3(HPRT1):c.505C>G (p.Pro169Ala)
|
rs534390401
|
0.00008
|
NM_000194.3(HPRT1):c.508C>A (p.Arg170=)
|
rs137852497
|
0.00004
|
NM_000194.3(HPRT1):c.609+14T>G
|
rs1000189373
|
0.00003
|
NM_000194.3(HPRT1):c.159G>A (p.Val53=)
|
rs748568278
|
0.00002
|
NM_000194.3(HPRT1):c.384+9C>T
|
rs748658007
|
0.00002
|
NM_000194.3(HPRT1):c.522T>C (p.Tyr174=)
|
rs750762293
|
0.00001
|
HPRT CHERMSIDE
|
rs2077673385
|
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NC_000023.10:g.(?_132670132)_(133634127_?)del
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NC_000023.10:g.(?_132670152)_(133634107_?)dup
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NC_000023.10:g.(?_133627518)_(133628822_?)del
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NC_000023.10:g.(?_133627564)_(133629109_?)del
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NC_000023.10:g.(?_133632400)_(133634107_?)del
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NC_000023.11:g.(?_134460292)_(134460385_?)del
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NC_000023.11:g.(?_134460292)_(134500097_?)del
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NC_000023.11:g.(?_134473339)_(134500097_?)del
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NC_000023.11:g.(?_134500010)_(134500097_?)del
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NM_000194.2(HPRT1):c.151C>T (p.Arg51Ter)
|
rs137852494
|
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NM_000194.2(HPRT1):c.155A>G (p.Asp52Gly)
|
rs137852502
|
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NM_000194.2(HPRT1):c.209G>A (p.Gly70Glu)
|
rs137852487
|
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NM_000194.2(HPRT1):c.239A>T (p.Asp80Val)
|
rs137852478
|
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NM_000194.2(HPRT1):c.329C>T (p.Ser110Leu)
|
rs137852482
|
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NM_000194.2(HPRT1):c.419G>A (p.Gly140Asp)
|
rs137852503
|
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NM_000194.2(HPRT1):c.481G>T (p.Ala161Ser)
|
rs137852484
|
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NM_000194.3(HPRT1):c.-12_1del (p.Met1fs)
|
rs2124280474
|
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NM_000194.3(HPRT1):c.102G>A (p.Arg34=)
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NM_000194.3(HPRT1):c.117T>C (p.His39=)
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NM_000194.3(HPRT1):c.118G>T (p.Gly40Ter)
|
rs2124290355
|
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NM_000194.3(HPRT1):c.11_17del (p.Arg4fs)
|
rs2124280518
|
|
NM_000194.3(HPRT1):c.124_127del (p.Ile42fs)
|
rs2077615821
|
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NM_000194.3(HPRT1):c.134+12C>G
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NM_000194.3(HPRT1):c.134+18A>G
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NM_000194.3(HPRT1):c.134+6_134+9del
|
rs794727238
|
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NM_000194.3(HPRT1):c.139G>C (p.Glu47Gln)
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|
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NM_000194.3(HPRT1):c.141A>G (p.Glu47=)
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NM_000194.3(HPRT1):c.143G>A (p.Arg48His)
|
rs387906725
|
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NM_000194.3(HPRT1):c.161T>C (p.Met54Thr)
|
|
|
NM_000194.3(HPRT1):c.174A>T (p.Gly58=)
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|
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NM_000194.3(HPRT1):c.177C>T (p.Gly59=)
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NM_000194.3(HPRT1):c.184A>G (p.Ile62Val)
|
|
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NM_000194.3(HPRT1):c.191C>A (p.Ala64Asp)
|
rs2124291425
|
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NM_000194.3(HPRT1):c.200_201dup (p.Leu68fs)
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|
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NM_000194.3(HPRT1):c.204C>G (p.Leu68=)
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NM_000194.3(HPRT1):c.212G>T (p.Gly71Val)
|
rs2124291450
|
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NM_000194.3(HPRT1):c.212del (p.Gly71fs)
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|
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NM_000194.3(HPRT1):c.212dup (p.Tyr72fs)
|
rs786200980
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NM_000194.3(HPRT1):c.21C>A (p.Gly7=)
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NM_000194.3(HPRT1):c.21C>T (p.Gly7=)
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NM_000194.3(HPRT1):c.22G>A (p.Val8Ile)
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NM_000194.3(HPRT1):c.22_27+28del
|
rs2077579380
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NM_000194.3(HPRT1):c.231C>T (p.Asp77=)
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|
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NM_000194.3(HPRT1):c.23T>G (p.Val8Gly)
|
rs2124280542
|
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NM_000194.3(HPRT1):c.24C>G (p.Val8=)
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|
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NM_000194.3(HPRT1):c.258T>C (p.Asn86=)
|
|
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NM_000194.3(HPRT1):c.261A>G (p.Arg87=)
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|
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NM_000194.3(HPRT1):c.27+12G>A
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NM_000194.3(HPRT1):c.27+19C>G
|
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NM_000194.3(HPRT1):c.27+19C>T
|
|
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NM_000194.3(HPRT1):c.27+7A>G
|
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NM_000194.3(HPRT1):c.28-13A>G
|
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NM_000194.3(HPRT1):c.28-14del
|
|
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NM_000194.3(HPRT1):c.28-15A>G
|
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NM_000194.3(HPRT1):c.28-19A>G
|
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NM_000194.3(HPRT1):c.289_290del (p.Val97fs)
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NM_000194.3(HPRT1):c.318+18A>C
|
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NM_000194.3(HPRT1):c.318+7A>G
|
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NM_000194.3(HPRT1):c.318+9A>G
|
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NM_000194.3(HPRT1):c.319-16T>A
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NM_000194.3(HPRT1):c.319-16T>G
|
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NM_000194.3(HPRT1):c.319-17T>G
|
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NM_000194.3(HPRT1):c.319-17_319-16insCT
|
|
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NM_000194.3(HPRT1):c.319-18T>G
|
|
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NM_000194.3(HPRT1):c.319-18_319-17insG
|
|
|
NM_000194.3(HPRT1):c.319-19_319-18insG
|
|
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NM_000194.3(HPRT1):c.319-19_319-18insGT
|
|
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NM_000194.3(HPRT1):c.319-2A>G
|
rs1602745376
|
|
NM_000194.3(HPRT1):c.319-7T>C
|
|
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NM_000194.3(HPRT1):c.325C>T (p.Gln109Ter)
|
rs137852489
|
|
NM_000194.3(HPRT1):c.333_334del (p.Asp113fs)
|
|
|
NM_000194.3(HPRT1):c.336G>A (p.Gly112=)
|
|
|
NM_000194.3(HPRT1):c.34G>T (p.Asp12Tyr)
|
|
|
NM_000194.3(HPRT1):c.355G>A (p.Gly119Arg)
|
rs2077653297
|
|
NM_000194.3(HPRT1):c.368C>G (p.Ser123Ter)
|
rs369065223
|
|
NM_000194.3(HPRT1):c.370A>G (p.Thr124Ala)
|
|
|
NM_000194.3(HPRT1):c.384+11T>C
|
|
|
NM_000194.3(HPRT1):c.384+13A>G
|
|
|
NM_000194.3(HPRT1):c.385-5T>C
|
|
|
NM_000194.3(HPRT1):c.391T>C (p.Leu131=)
|
|
|
NM_000194.3(HPRT1):c.399G>A (p.Val133=)
|
|
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NM_000194.3(HPRT1):c.402+1229A>G
|
|
|
NM_000194.3(HPRT1):c.402+8C>G
|
|
|
NM_000194.3(HPRT1):c.403-12C>A
|
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NM_000194.3(HPRT1):c.403-17G>A
|
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NM_000194.3(HPRT1):c.403-7T>A
|
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|
NM_000194.3(HPRT1):c.403G>T (p.Asp135Tyr)
|
|
|
NM_000194.3(HPRT1):c.417T>C (p.Thr139=)
|
|
|
NM_000194.3(HPRT1):c.420C>A (p.Gly140=)
|
|
|
NM_000194.3(HPRT1):c.42del (p.Glu14fs)
|
|
|
NM_000194.3(HPRT1):c.430C>T (p.Gln144Ter)
|
rs2124302024
|
|
NM_000194.3(HPRT1):c.472dup (p.Val158fs)
|
rs2124302051
|
|
NM_000194.3(HPRT1):c.481G>A (p.Ala161Thr)
|
rs137852484
|
|
NM_000194.3(HPRT1):c.485+15T>A
|
|
|
NM_000194.3(HPRT1):c.486-12dup
|
|
|
NM_000194.3(HPRT1):c.486-1G>A
|
rs398123241
|
|
NM_000194.3(HPRT1):c.486-2A>G
|
rs2077687102
|
|
NM_000194.3(HPRT1):c.486-3C>G
|
rs2077687093
|
|
NM_000194.3(HPRT1):c.492G>C (p.Leu164=)
|
|
|
NM_000194.3(HPRT1):c.504C>T (p.Thr168=)
|
|
|
NM_000194.3(HPRT1):c.508C>T (p.Arg170Ter)
|
rs137852497
|
|
NM_000194.3(HPRT1):c.519A>C (p.Gly173=)
|
|
|
NM_000194.3(HPRT1):c.532+18T>C
|
|
|
NM_000194.3(HPRT1):c.532+1_532+2del
|
rs2124305218
|
|
NM_000194.3(HPRT1):c.532+20T>C
|
|
|
NM_000194.3(HPRT1):c.533-11A>G
|
|
|
NM_000194.3(HPRT1):c.533-12G>T
|
|
|
NM_000194.3(HPRT1):c.533-13T>C
|
|
|
NM_000194.3(HPRT1):c.53A>G (p.Asp18Gly)
|
rs2124290320
|
|
NM_000194.3(HPRT1):c.546A>G (p.Glu182=)
|
rs2124305311
|
|
NM_000194.3(HPRT1):c.556_557del (p.Lys186fs)
|
rs2124305315
|
|
NM_000194.3(HPRT1):c.564del (p.Val188_Val189insTer)
|
rs2077687660
|
|
NM_000194.3(HPRT1):c.569G>A (p.Gly190Glu)
|
|
|
NM_000194.3(HPRT1):c.57T>G (p.Leu19=)
|
|
|
NM_000194.3(HPRT1):c.599G>A (p.Arg200Lys)
|
rs2124305337
|
|
NM_000194.3(HPRT1):c.609+20T>C
|
|
|
NM_000194.3(HPRT1):c.609dup (p.His204fs)
|
rs1556030169
|
|
NM_000194.3(HPRT1):c.610-4A>G
|
|
|
NM_000194.3(HPRT1):c.610-5del
|
|
|
NM_000194.3(HPRT1):c.610-5dup
|
|
|
NM_000194.3(HPRT1):c.610-6_610-5del
|
|
|
NM_000194.3(HPRT1):c.610C>T (p.His204Tyr)
|
rs137852490
|
|
NM_000194.3(HPRT1):c.611A>T (p.His204Leu)
|
|
|
NM_000194.3(HPRT1):c.615T>C (p.Val205=)
|
|
|
NM_000194.3(HPRT1):c.615_620dup (p.Val207_Ile208insCysVal)
|
|
|
NM_000194.3(HPRT1):c.627T>G (p.Ser209Arg)
|
|
|
NM_000194.3(HPRT1):c.648C>G (p.Tyr216Ter)
|
|
|
NM_000194.3(HPRT1):c.648del (p.Lys215_Tyr216insTer)
|
rs1602750626
|
|
NM_000194.3(HPRT1):c.653C>G (p.Ala218Gly)
|
rs1602750635
|
|
NM_000194.3(HPRT1):c.69C>T (p.Cys23=)
|
rs2077615705
|
|
NM_000194.3(HPRT1):c.77A>G (p.Asn26Ser)
|
|
|