NM_000310.4(PPT1):c.*3C>A
|
rs150454815
|
0.00889
|
NM_000310.4(PPT1):c.*708A>C
|
rs368715899
|
0.00355
|
NM_000310.4(PPT1):c.*679C>A
|
rs560639610
|
0.00301
|
NM_000310.4(PPT1):c.*484C>T
|
rs570163737
|
0.00155
|
NM_000310.4(PPT1):c.904A>G (p.Ile302Val)
|
rs146902902
|
0.00091
|
NM_000310.4(PPT1):c.*914A>G
|
rs1005345754
|
0.00070
|
NM_000310.4(PPT1):c.*583G>A
|
rs767942985
|
0.00064
|
NM_000310.4(PPT1):c.*388G>C
|
rs56067238
|
0.00061
|
NM_000310.4(PPT1):c.*1295G>C
|
rs180769534
|
0.00058
|
NM_000310.4(PPT1):c.*568A>G
|
rs541526824
|
0.00052
|
NM_000310.3(PPT1):c.-158C>T
|
rs747705034
|
0.00037
|
NM_000310.4(PPT1):c.*1019C>T
|
rs1057515445
|
0.00012
|
NM_000310.4(PPT1):c.329A>G (p.Asn110Ser)
|
rs142894102
|
0.00010
|
NM_000310.4(PPT1):c.*470T>C
|
rs979602950
|
0.00008
|
NM_000310.4(PPT1):c.802C>T (p.Arg268Cys)
|
rs200813294
|
0.00008
|
NM_000310.4(PPT1):c.*811A>G
|
rs544749186
|
0.00007
|
NM_000310.4(PPT1):c.234+6G>A
|
rs587781122
|
0.00007
|
NM_000310.4(PPT1):c.*340T>G
|
rs1012813914
|
0.00006
|
NM_000310.4(PPT1):c.*6G>A
|
rs113082671
|
0.00006
|
NM_000310.4(PPT1):c.*781A>T
|
rs1057515517
|
0.00006
|
NM_000310.4(PPT1):c.*802C>T
|
rs983979078
|
0.00006
|
NM_000310.4(PPT1):c.175G>A (p.Glu59Lys)
|
rs750533343
|
0.00006
|
NM_000310.4(PPT1):c.17G>A (p.Cys6Tyr)
|
rs202241486
|
0.00006
|
NM_000310.4(PPT1):c.*701G>A
|
rs997860980
|
0.00005
|
NM_000310.4(PPT1):c.*727A>C
|
rs764870558
|
0.00005
|
NM_000310.4(PPT1):c.362+4C>T
|
rs534592472
|
0.00005
|
NM_000310.4(PPT1):c.413C>T (p.Ser138Leu)
|
rs386833646
|
0.00005
|
NM_000310.4(PPT1):c.856G>A (p.Glu286Lys)
|
rs141405110
|
0.00005
|
NM_000310.4(PPT1):c.*991T>C
|
rs149722250
|
0.00004
|
NM_000310.4(PPT1):c.234+7C>T
|
rs200777536
|
0.00004
|
NM_000310.4(PPT1):c.535C>T (p.Arg179Cys)
|
rs560471003
|
0.00004
|
NM_000310.4(PPT1):c.586C>T (p.Arg196Cys)
|
rs376715840
|
0.00004
|
NM_000310.4(PPT1):c.62C>T (p.Ser21Phe)
|
rs796052922
|
0.00004
|
NM_000310.4(PPT1):c.-10C>T
|
rs761610817
|
0.00003
|
NM_000310.4(PPT1):c.199G>A (p.Val67Ile)
|
rs149945902
|
0.00003
|
NM_000310.4(PPT1):c.282A>G (p.Thr94=)
|
rs753828114
|
0.00003
|
NM_000310.4(PPT1):c.310A>G (p.Lys104Glu)
|
rs386833641
|
0.00003
|
NM_000310.4(PPT1):c.363G>T (p.Leu121=)
|
rs201820661
|
0.00003
|
NM_000310.4(PPT1):c.587G>A (p.Arg196His)
|
rs939858453
|
0.00003
|
NM_000310.4(PPT1):c.676G>A (p.Val226Met)
|
rs375190067
|
0.00003
|
NM_000310.4(PPT1):c.762A>C (p.Glu254Asp)
|
rs146002450
|
0.00003
|
NM_000310.4(PPT1):c.803G>A (p.Arg268His)
|
rs763536047
|
0.00003
|
NM_000310.4(PPT1):c.*910C>T
|
rs1057515446
|
0.00002
|
NM_000310.4(PPT1):c.14G>C (p.Gly5Ala)
|
rs757580857
|
0.00002
|
NM_000310.4(PPT1):c.287G>A (p.Cys96Tyr)
|
rs386833640
|
0.00002
|
NM_000310.4(PPT1):c.416T>C (p.Val139Ala)
|
rs766961054
|
0.00002
|
NM_000310.4(PPT1):c.537-12T>C
|
rs1057515556
|
0.00002
|
NM_000310.4(PPT1):c.628G>C (p.Gly210Arg)
|
rs200434104
|
0.00002
|
NM_000310.4(PPT1):c.875T>C (p.Leu292Ser)
|
rs199708990
|
0.00002
|
NM_000310.4(PPT1):c.*1062G>A
|
rs564499024
|
0.00001
|
NM_000310.4(PPT1):c.*353C>T
|
rs1016587844
|
0.00001
|
NM_000310.4(PPT1):c.*529_*530insATCG
|
rs1475500814
|
0.00001
|
NM_000310.4(PPT1):c.*90C>G
|
rs746784832
|
0.00001
|
NM_000310.4(PPT1):c.10C>T (p.Pro4Ser)
|
rs539194943
|
0.00001
|
NM_000310.4(PPT1):c.12C>T (p.Pro4=)
|
rs140289866
|
0.00001
|
NM_000310.4(PPT1):c.238G>A (p.Val80Met)
|
rs370396045
|
0.00001
|
NM_000310.4(PPT1):c.272A>C (p.Gln91Pro)
|
rs386833639
|
0.00001
|
NM_000310.4(PPT1):c.283G>A (p.Val95Met)
|
rs932228782
|
0.00001
|
NM_000310.4(PPT1):c.293C>A (p.Ala98Glu)
|
rs768065632
|
0.00001
|
NM_000310.4(PPT1):c.334A>T (p.Met112Leu)
|
rs760532726
|
0.00001
|
NM_000310.4(PPT1):c.367G>A (p.Ala123Thr)
|
rs755565099
|
0.00001
|
NM_000310.4(PPT1):c.38C>G (p.Ala13Gly)
|
rs1057515557
|
0.00001
|
NM_000310.4(PPT1):c.40C>T (p.Leu14Phe)
|
rs550492793
|
0.00001
|
NM_000310.4(PPT1):c.433G>C (p.Gly145Arg)
|
rs369186379
|
0.00001
|
NM_000310.4(PPT1):c.440T>C (p.Phe147Ser)
|
rs760784114
|
0.00001
|
NM_000310.4(PPT1):c.445C>A (p.Leu149Ile)
|
rs775899980
|
0.00001
|
NM_000310.4(PPT1):c.452G>A (p.Arg151Gln)
|
rs779343776
|
0.00001
|
NM_000310.4(PPT1):c.472C>T (p.His158Tyr)
|
rs754525635
|
0.00001
|
NM_000310.4(PPT1):c.49T>G (p.Trp17Gly)
|
rs775853398
|
0.00001
|
NM_000310.4(PPT1):c.512C>T (p.Ala171Val)
|
rs761687224
|
0.00001
|
NM_000310.4(PPT1):c.536+5G>T
|
rs1208757133
|
0.00001
|
NM_000310.4(PPT1):c.536G>A (p.Arg179His)
|
rs370069880
|
0.00001
|
NM_000310.4(PPT1):c.626G>A (p.Arg209Gln)
|
rs201265025
|
0.00001
|
NM_000310.4(PPT1):c.647A>G (p.Lys216Arg)
|
rs1296750828
|
0.00001
|
NM_000310.4(PPT1):c.695A>G (p.Asn232Ser)
|
rs768490419
|
0.00001
|
NM_000310.4(PPT1):c.71T>C (p.Leu24Pro)
|
rs746667989
|
0.00001
|
NM_000310.4(PPT1):c.722C>T (p.Ser241Leu)
|
rs746043871
|
0.00001
|
NM_000310.4(PPT1):c.769C>A (p.Pro257Thr)
|
rs201313087
|
0.00001
|
NM_000310.4(PPT1):c.798+3A>G
|
rs1454468517
|
0.00001
|
NM_000310.4(PPT1):c.817G>A (p.Glu273Lys)
|
rs1193191643
|
0.00001
|
NM_000310.4(PPT1):c.830C>T (p.Ala277Val)
|
rs1447656117
|
0.00001
|
NM_000310.4(PPT1):c.86C>A (p.Pro29Gln)
|
rs778256566
|
0.00001
|
NM_000310.4(PPT1):c.877T>C (p.Ser293Pro)
|
rs1304668396
|
0.00001
|
NM_000310.4(PPT1):c.89C>T (p.Pro30Leu)
|
rs757268571
|
0.00001
|
NM_000310.4(PPT1):c.908C>T (p.Pro303Leu)
|
rs1270614783
|
0.00001
|
NC_000001.10:g.(?_40539733)_(40539875_?)dup
|
|
|
NC_000001.10:g.(?_40539733)_(40546179_?)dup
|
|
|
NM_000310.3(PPT1):c.-73G>C
|
rs559058511
|
|
NM_000310.4(PPT1):c.*1088G>A
|
rs1057515481
|
|
NM_000310.4(PPT1):c.*127A>T
|
rs780010424
|
|
NM_000310.4(PPT1):c.*252C>T
|
rs1057515447
|
|
NM_000310.4(PPT1):c.*521_*532dup
|
rs1553166026
|
|
NM_000310.4(PPT1):c.*529_*530insAGCA
|
rs1553166029
|
|
NM_000310.4(PPT1):c.*529_*530insGTCA
|
rs1553166030
|
|
NM_000310.4(PPT1):c.*709T>C
|
rs767547423
|
|
NM_000310.4(PPT1):c.*969A>G
|
rs376286074
|
|
NM_000310.4(PPT1):c.113G>C (p.Trp38Ser)
|
rs1026370829
|
|
NM_000310.4(PPT1):c.115_120del (p.His39_Gly40del)
|
rs2124494364
|
|
NM_000310.4(PPT1):c.125-3T>C
|
|
|
NM_000310.4(PPT1):c.125G>A (p.Gly42Glu)
|
rs386833631
|
|
NM_000310.4(PPT1):c.143C>T (p.Pro48Leu)
|
|
|
NM_000310.4(PPT1):c.147A>C (p.Leu49Phe)
|
rs781048683
|
|
NM_000310.4(PPT1):c.150C>T (p.Ser50=)
|
rs1649625101
|
|
NM_000310.4(PPT1):c.155G>C (p.Gly52Ala)
|
rs1225799280
|
|
NM_000310.4(PPT1):c.167A>T (p.Lys56Ile)
|
rs2124488428
|
|
NM_000310.4(PPT1):c.170T>A (p.Met57Lys)
|
|
|
NM_000310.4(PPT1):c.170T>C (p.Met57Thr)
|
rs766489334
|
|
NM_000310.4(PPT1):c.175_177del (p.Glu59del)
|
rs1553167495
|
|
NM_000310.4(PPT1):c.17G>C (p.Cys6Ser)
|
rs202241486
|
|
NM_000310.4(PPT1):c.17G>T (p.Cys6Phe)
|
rs202241486
|
|
NM_000310.4(PPT1):c.190G>C (p.Gly64Arg)
|
|
|
NM_000310.4(PPT1):c.191G>A (p.Gly64Glu)
|
|
|
NM_000310.4(PPT1):c.19C>A (p.Leu7Met)
|
rs375262288
|
|
NM_000310.4(PPT1):c.233A>C (p.Glu78Ala)
|
|
|
NM_000310.4(PPT1):c.233A>G (p.Glu78Gly)
|
rs769365325
|
|
NM_000310.4(PPT1):c.234+8G>A
|
rs746750426
|
|
NM_000310.4(PPT1):c.237C>A (p.Asp79Glu)
|
|
|
NM_000310.4(PPT1):c.239T>G (p.Val80Gly)
|
rs762619451
|
|
NM_000310.4(PPT1):c.241G>A (p.Glu81Lys)
|
|
|
NM_000310.4(PPT1):c.246C>A (p.Asn82Lys)
|
|
|
NM_000310.4(PPT1):c.25C>T (p.Leu9Phe)
|
|
|
NM_000310.4(PPT1):c.265A>G (p.Asn89Asp)
|
rs1649599567
|
|
NM_000310.4(PPT1):c.277A>G (p.Thr93Ala)
|
|
|
NM_000310.4(PPT1):c.293C>T (p.Ala98Val)
|
rs768065632
|
|
NM_000310.4(PPT1):c.317A>G (p.Gln106Arg)
|
|
|
NM_000310.4(PPT1):c.328A>G (p.Asn110Asp)
|
rs776026842
|
|
NM_000310.4(PPT1):c.32C>A (p.Ala11Asp)
|
|
|
NM_000310.4(PPT1):c.334A>G (p.Met112Val)
|
rs760532726
|
|
NM_000310.4(PPT1):c.341T>C (p.Phe114Ser)
|
rs771910918
|
|
NM_000310.4(PPT1):c.35T>C (p.Val12Ala)
|
|
|
NM_000310.4(PPT1):c.362+5G>A
|
rs796052924
|
|
NM_000310.4(PPT1):c.363-5C>G
|
rs112553480
|
|
NM_000310.4(PPT1):c.363G>A (p.Leu121=)
|
|
|
NM_000310.4(PPT1):c.386C>T (p.Pro129Leu)
|
|
|
NM_000310.4(PPT1):c.401T>G (p.Ile134Ser)
|
|
|
NM_000310.4(PPT1):c.404A>G (p.Asn135Ser)
|
rs1342695798
|
|
NM_000310.4(PPT1):c.40C>G (p.Leu14Val)
|
rs550492793
|
|
NM_000310.4(PPT1):c.410T>C (p.Ile137Thr)
|
|
|
NM_000310.4(PPT1):c.428A>G (p.His143Arg)
|
|
|
NM_000310.4(PPT1):c.430C>G (p.Gln144Glu)
|
|
|
NM_000310.4(PPT1):c.433+5C>A
|
rs1553167414
|
|
NM_000310.4(PPT1):c.433G>A (p.Gly145Ser)
|
rs369186379
|
|
NM_000310.4(PPT1):c.443G>A (p.Gly148Glu)
|
|
|
NM_000310.4(PPT1):c.443G>T (p.Gly148Val)
|
|
|
NM_000310.4(PPT1):c.451C>G (p.Arg151Gly)
|
rs137852700
|
|
NM_000310.4(PPT1):c.474C>A (p.His158Gln)
|
|
|
NM_000310.4(PPT1):c.491G>A (p.Arg164Gln)
|
|
|
NM_000310.4(PPT1):c.49T>C (p.Trp17Arg)
|
rs775853398
|
|
NM_000310.4(PPT1):c.509G>A (p.Gly170Glu)
|
rs1553167257
|
|
NM_000310.4(PPT1):c.511G>C (p.Ala171Pro)
|
|
|
NM_000310.4(PPT1):c.518C>T (p.Ser173Phe)
|
rs1649436438
|
|
NM_000310.4(PPT1):c.520A>G (p.Lys174Glu)
|
rs1649436304
|
|
NM_000310.4(PPT1):c.521A>G (p.Lys174Arg)
|
|
|
NM_000310.4(PPT1):c.537-3C>T
|
|
|
NM_000310.4(PPT1):c.553T>C (p.Tyr185His)
|
rs2124474563
|
|
NM_000310.4(PPT1):c.564C>A (p.Asp188Glu)
|
rs1349674706
|
|
NM_000310.4(PPT1):c.566C>T (p.Pro189Leu)
|
|
|
NM_000310.4(PPT1):c.56_57delinsCT (p.Cys19Ser)
|
|
|
NM_000310.4(PPT1):c.572A>C (p.Lys191Thr)
|
rs1557708208
|
|
NM_000310.4(PPT1):c.574G>A (p.Glu192Lys)
|
rs1557708202
|
|
NM_000310.4(PPT1):c.57C>G (p.Cys19Trp)
|
|
|
NM_000310.4(PPT1):c.583T>C (p.Tyr195His)
|
rs1648869873
|
|
NM_000310.4(PPT1):c.583T>G (p.Tyr195Asp)
|
rs1648869873
|
|
NM_000310.4(PPT1):c.59C>T (p.Ala20Val)
|
rs1187613034
|
|
NM_000310.4(PPT1):c.5C>T (p.Ala2Val)
|
|
|
NM_000310.4(PPT1):c.607G>A (p.Ala203Thr)
|
|
|
NM_000310.4(PPT1):c.628G>A (p.Gly210Ser)
|
rs200434104
|
|
NM_000310.4(PPT1):c.634A>G (p.Asn212Asp)
|
|
|
NM_000310.4(PPT1):c.634A>T (p.Asn212Tyr)
|
rs375831846
|
|
NM_000310.4(PPT1):c.635A>G (p.Asn212Ser)
|
|
|
NM_000310.4(PPT1):c.646A>G (p.Lys216Glu)
|
rs766163400
|
|
NM_000310.4(PPT1):c.64C>T (p.Arg22Trp)
|
rs1189526127
|
|
NM_000310.4(PPT1):c.65G>C (p.Arg22Pro)
|
rs1649904164
|
|
NM_000310.4(PPT1):c.662C>T (p.Ala221Val)
|
|
|
NM_000310.4(PPT1):c.674T>C (p.Phe225Ser)
|
rs386833662
|
|
NM_000310.4(PPT1):c.690C>T (p.Phe230=)
|
rs1648754113
|
|
NM_000310.4(PPT1):c.696T>G (p.Asn232Lys)
|
|
|
NM_000310.4(PPT1):c.704T>C (p.Ile235Thr)
|
|
|
NM_000310.4(PPT1):c.705T>C (p.Ile235=)
|
rs1057515448
|
|
NM_000310.4(PPT1):c.718G>A (p.Asp240Asn)
|
rs796052926
|
|
NM_000310.4(PPT1):c.733G>C (p.Gly245Arg)
|
rs1259755308
|
|
NM_000310.4(PPT1):c.745A>T (p.Ser249Cys)
|
|
|
NM_000310.4(PPT1):c.770C>T (p.Pro257Leu)
|
rs2124470302
|
|
NM_000310.4(PPT1):c.794C>G (p.Thr265Arg)
|
rs746139685
|
|
NM_000310.4(PPT1):c.822G>A (p.Met274Ile)
|
rs1648441107
|
|
NM_000310.4(PPT1):c.824A>T (p.Asp275Val)
|
rs775402028
|
|
NM_000310.4(PPT1):c.832G>A (p.Gly278Arg)
|
rs1243793048
|
|
NM_000310.4(PPT1):c.84C>G (p.Asp28Glu)
|
rs1228014012
|
|
NM_000310.4(PPT1):c.850G>C (p.Ala284Pro)
|
rs1648437826
|
|
NM_000310.4(PPT1):c.862G>A (p.Asp288Asn)
|
rs749414998
|
|
NM_000310.4(PPT1):c.878C>T (p.Ser293Phe)
|
rs374154128
|
|
NM_000310.4(PPT1):c.894T>C (p.Tyr298=)
|
rs781759073
|
|
NM_000310.4(PPT1):c.896C>T (p.Ala299Val)
|
rs768943497
|
|
NM_000310.4(PPT1):c.899A>C (p.His300Pro)
|
|
|
NM_000310.4(PPT1):c.89C>G (p.Pro30Arg)
|
|
|
NM_000310.4(PPT1):c.8C>T (p.Ser3Leu)
|
|
|
NM_000310.4(PPT1):c.902T>A (p.Ile301Asn)
|
rs1648432406
|
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NM_000310.4(PPT1):c.906A>G (p.Ile302Met)
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NM_000310.4(PPT1):c.910T>C (p.Phe304Leu)
|
rs1557704819
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NM_000310.4(PPT1):c.914T>G (p.Leu305Arg)
|
rs386833671
|
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NM_000310.4(PPT1):c.916G>C (p.Gly306Arg)
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NM_000310.4(PPT1):c.98T>A (p.Leu33Gln)
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rs2124494434
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