NM_000310.4(PPT1):c.401T>C (p.Ile134Thr)
|
rs1800205
|
0.04289
|
NM_000310.4(PPT1):c.837G>C (p.Gln279His)
|
rs72937434
|
0.02506
|
NM_000310.4(PPT1):c.363-18C>G
|
rs143235344
|
0.00531
|
NM_000310.4(PPT1):c.363-4G>A
|
rs117284255
|
0.00318
|
NM_000310.4(PPT1):c.904A>G (p.Ile302Val)
|
rs146902902
|
0.00091
|
NM_000310.4(PPT1):c.364A>T (p.Arg122Trp)
|
rs137852695
|
0.00061
|
NM_000310.4(PPT1):c.799-19A>C
|
rs367820578
|
0.00046
|
NM_000310.4(PPT1):c.451C>T (p.Arg151Ter)
|
rs137852700
|
0.00038
|
NM_000310.4(PPT1):c.83A>G (p.Asp28Gly)
|
rs749909390
|
0.00024
|
NM_000310.4(PPT1):c.798+8G>A
|
rs368106574
|
0.00018
|
NM_000310.4(PPT1):c.657G>C (p.Leu219=)
|
rs773591614
|
0.00011
|
NM_000310.4(PPT1):c.329A>G (p.Asn110Ser)
|
rs142894102
|
0.00010
|
NM_000310.4(PPT1):c.513G>A (p.Ala171=)
|
rs150924738
|
0.00010
|
NM_000310.4(PPT1):c.363-5C>T
|
rs112553480
|
0.00009
|
NM_000310.4(PPT1):c.627+9C>T
|
rs368895182
|
0.00008
|
NM_000310.4(PPT1):c.802C>T (p.Arg268Cys)
|
rs200813294
|
0.00008
|
NM_000310.4(PPT1):c.234+6G>A
|
rs587781122
|
0.00007
|
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.223A>C (p.Thr75Pro)
|
rs137852696
|
0.00006
|
NM_000310.4(PPT1):c.541G>A (p.Val181Met)
|
rs148412181
|
0.00006
|
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.198C>T (p.Tyr66=)
|
rs200035288
|
0.00004
|
NM_000310.4(PPT1):c.234+14C>T
|
rs779785372
|
0.00004
|
NM_000310.4(PPT1):c.234+7C>T
|
rs200777536
|
0.00004
|
NM_000310.4(PPT1):c.29T>A (p.Leu10Ter)
|
rs137852699
|
0.00004
|
NM_000310.4(PPT1):c.363-19A>G
|
rs587781124
|
0.00004
|
NM_000310.4(PPT1):c.535C>T (p.Arg179Cys)
|
rs560471003
|
0.00004
|
NM_000310.4(PPT1):c.543G>A (p.Val181=)
|
rs374121503
|
0.00004
|
NM_000310.4(PPT1):c.586C>T (p.Arg196Cys)
|
rs376715840
|
0.00004
|
NM_000310.4(PPT1):c.627+16G>A
|
rs745468692
|
0.00004
|
NM_000310.4(PPT1):c.62C>T (p.Ser21Phe)
|
rs796052922
|
0.00004
|
NM_000310.4(PPT1):c.810G>C (p.Gly270=)
|
rs371213189
|
0.00004
|
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.2T>C (p.Met1Thr)
|
rs796052927
|
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.434-12C>T
|
rs1195845438
|
0.00003
|
NM_000310.4(PPT1):c.529C>G (p.Gln177Glu)
|
rs386833650
|
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.141T>C (p.Asn47=)
|
rs756148014
|
0.00002
|
NM_000310.4(PPT1):c.14G>C (p.Gly5Ala)
|
rs757580857
|
0.00002
|
NM_000310.4(PPT1):c.237C>T (p.Asp79=)
|
rs373867152
|
0.00002
|
NM_000310.4(PPT1):c.255C>T (p.Phe85=)
|
rs563017334
|
0.00002
|
NM_000310.4(PPT1):c.287G>A (p.Cys96Tyr)
|
rs386833640
|
0.00002
|
NM_000310.4(PPT1):c.362+18A>G
|
rs201717598
|
0.00002
|
NM_000310.4(PPT1):c.369A>G (p.Ala123=)
|
rs138951598
|
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.537-8T>C
|
rs773581354
|
0.00002
|
NM_000310.4(PPT1):c.627+8C>T
|
rs1427848229
|
0.00002
|
NM_000310.4(PPT1):c.628G>C (p.Gly210Arg)
|
rs200434104
|
0.00002
|
NM_000310.4(PPT1):c.645C>T (p.Tyr215=)
|
rs906447282
|
0.00002
|
NM_000310.4(PPT1):c.726+9C>T
|
rs1024088820
|
0.00002
|
NM_000310.4(PPT1):c.798+19A>G
|
rs774008808
|
0.00002
|
NM_000310.4(PPT1):c.875T>C (p.Leu292Ser)
|
rs199708990
|
0.00002
|
NM_000310.4(PPT1):c.10C>T (p.Pro4Ser)
|
rs539194943
|
0.00001
|
NM_000310.4(PPT1):c.125-5G>A
|
rs777893002
|
0.00001
|
NM_000310.4(PPT1):c.12C>T (p.Pro4=)
|
rs140289866
|
0.00001
|
NM_000310.4(PPT1):c.145T>C (p.Leu49=)
|
rs375188207
|
0.00001
|
NM_000310.4(PPT1):c.159T>C (p.Ala53=)
|
rs1340441165
|
0.00001
|
NM_000310.4(PPT1):c.15C>T (p.Gly5=)
|
rs749621114
|
0.00001
|
NM_000310.4(PPT1):c.177G>A (p.Glu59=)
|
rs1322148659
|
0.00001
|
NM_000310.4(PPT1):c.18C>T (p.Cys6=)
|
rs765938149
|
0.00001
|
NM_000310.4(PPT1):c.225C>T (p.Thr75=)
|
rs1477732757
|
0.00001
|
NM_000310.4(PPT1):c.234+18T>C
|
rs372965402
|
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.288T>C (p.Cys96=)
|
rs375820734
|
0.00001
|
NM_000310.4(PPT1):c.293C>A (p.Ala98Glu)
|
rs768065632
|
0.00001
|
NM_000310.4(PPT1):c.325T>G (p.Tyr109Asp)
|
rs386833642
|
0.00001
|
NM_000310.4(PPT1):c.353G>A (p.Gly118Asp)
|
rs143657539
|
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.3G>A (p.Met1Ile)
|
rs386833645
|
0.00001
|
NM_000310.4(PPT1):c.40C>T (p.Leu14Phe)
|
rs550492793
|
0.00001
|
NM_000310.4(PPT1):c.424C>T (p.Gln142Ter)
|
rs796052925
|
0.00001
|
NM_000310.4(PPT1):c.426A>G (p.Gln142=)
|
rs759480265
|
0.00001
|
NM_000310.4(PPT1):c.42C>T (p.Leu14=)
|
rs371884332
|
0.00001
|
NM_000310.4(PPT1):c.433+11C>T
|
rs535946203
|
0.00001
|
NM_000310.4(PPT1):c.433G>C (p.Gly145Arg)
|
rs369186379
|
0.00001
|
NM_000310.4(PPT1):c.435T>A (p.Gly145=)
|
rs768915314
|
0.00001
|
NM_000310.4(PPT1):c.43C>T (p.Leu15=)
|
rs1057522283
|
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.48A>G (p.Pro16=)
|
rs1003007171
|
0.00001
|
NM_000310.4(PPT1):c.490C>T (p.Arg164Ter)
|
rs386833649
|
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.537-4A>G
|
rs587781120
|
0.00001
|
NM_000310.4(PPT1):c.540C>T (p.Leu180=)
|
rs375858133
|
0.00001
|
NM_000310.4(PPT1):c.54C>T (p.Thr18=)
|
rs772052570
|
0.00001
|
NM_000310.4(PPT1):c.550G>A (p.Glu184Lys)
|
rs386833655
|
0.00001
|
NM_000310.4(PPT1):c.600C>T (p.Ile200=)
|
rs767606363
|
0.00001
|
NM_000310.4(PPT1):c.626G>A (p.Arg209Gln)
|
rs201265025
|
0.00001
|
NM_000310.4(PPT1):c.627+15C>T
|
rs566932238
|
0.00001
|
NM_000310.4(PPT1):c.628-10T>C
|
rs557560550
|
0.00001
|
NM_000310.4(PPT1):c.628-1G>T
|
rs386833659
|
0.00001
|
NM_000310.4(PPT1):c.628-8T>C
|
rs758512449
|
0.00001
|
NM_000310.4(PPT1):c.639G>A (p.Glu213=)
|
rs751303272
|
0.00001
|
NM_000310.4(PPT1):c.63T>C (p.Ser21=)
|
rs774746695
|
0.00001
|
NM_000310.4(PPT1):c.647A>G (p.Lys216Arg)
|
rs1296750828
|
0.00001
|
NM_000310.4(PPT1):c.665T>C (p.Leu222Pro)
|
rs386833661
|
0.00001
|
NM_000310.4(PPT1):c.678G>A (p.Val226=)
|
rs1481792811
|
0.00001
|
NM_000310.4(PPT1):c.695A>G (p.Asn232Ser)
|
rs768490419
|
0.00001
|
NM_000310.4(PPT1):c.696T>C (p.Asn232=)
|
rs746776515
|
0.00001
|
NM_000310.4(PPT1):c.717A>T (p.Val239=)
|
rs1263161320
|
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.723G>A (p.Ser241=)
|
rs778863462
|
0.00001
|
NM_000310.4(PPT1):c.732T>C (p.Phe244=)
|
rs559580128
|
0.00001
|
NM_000310.4(PPT1):c.739T>C (p.Tyr247His)
|
rs386833665
|
0.00001
|
NM_000310.4(PPT1):c.740A>G (p.Tyr247Cys)
|
rs764051026
|
0.00001
|
NM_000310.4(PPT1):c.750C>A (p.Gly250=)
|
rs1244256818
|
0.00001
|
NM_000310.4(PPT1):c.769C>A (p.Pro257Thr)
|
rs201313087
|
0.00001
|
NM_000310.4(PPT1):c.776dup (p.Glu260fs)
|
rs1349528345
|
0.00001
|
NM_000310.4(PPT1):c.798+3A>G
|
rs1454468517
|
0.00001
|
NM_000310.4(PPT1):c.799-16G>C
|
rs1294889179
|
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.900C>T (p.His300=)
|
rs747432731
|
0.00001
|
NM_000310.4(PPT1):c.908C>T (p.Pro303Leu)
|
rs1270614783
|
0.00001
|
NM_000310.4(PPT1):c.99G>A (p.Leu33=)
|
rs1294056746
|
0.00001
|
NC_000001.10:g.(?_40539733)_(40539875_?)dup
|
|
|
NC_000001.10:g.(?_40539733)_(40546179_?)dup
|
|
|
NC_000001.10:g.(?_40542494)_(40562910_?)del
|
|
|
NC_000001.10:g.(?_40555062)_(40557091_?)dup
|
|
|
NC_000001.10:g.(?_40555072)_(40558194_?)del
|
|
|
NC_000001.10:g.(?_40557947)_40561572del
|
|
|
NC_000001.10:g.(?_40558060)_(40561460_?)del
|
|
|
NC_000001.10:g.(?_40561110)_(40562920_?)del
|
|
|
NC_000001.11:g.(?_40089400)_(40097248_?)del
|
|
|
NM_000310.3(PPT1):c.799del
|
rs1648444864
|
|
NM_000310.4(PPT1):c.102G>C (p.Pro34=)
|
|
|
NM_000310.4(PPT1):c.102del (p.Leu35fs)
|
rs1649901192
|
|
NM_000310.4(PPT1):c.108G>T (p.Val36=)
|
rs2124494393
|
|
NM_000310.4(PPT1):c.112del (p.Trp38fs)
|
|
|
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.120G>A (p.Gly40=)
|
|
|
NM_000310.4(PPT1):c.124+1215_235-103del
|
|
|
NM_000310.4(PPT1):c.125-14G>A
|
|
|
NM_000310.4(PPT1):c.125-18T>C
|
|
|
NM_000310.4(PPT1):c.125-19A>G
|
|
|
NM_000310.4(PPT1):c.125-2A>T
|
|
|
NM_000310.4(PPT1):c.125-3T>C
|
|
|
NM_000310.4(PPT1):c.125-6G>C
|
|
|
NM_000310.4(PPT1):c.125-9G>A
|
|
|
NM_000310.4(PPT1):c.125G>A (p.Gly42Glu)
|
rs386833631
|
|
NM_000310.4(PPT1):c.134G>A (p.Cys45Tyr)
|
rs137852702
|
|
NM_000310.4(PPT1):c.138C>T (p.Cys46=)
|
|
|
NM_000310.4(PPT1):c.143C>T (p.Pro48Leu)
|
|
|
NM_000310.4(PPT1):c.144C>T (p.Pro48=)
|
rs1265214190
|
|
NM_000310.4(PPT1):c.147A>C (p.Leu49Phe)
|
rs781048683
|
|
NM_000310.4(PPT1):c.147A>G (p.Leu49=)
|
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.169del (p.Met57fs)
|
|
|
NM_000310.4(PPT1):c.169dup (p.Met57fs)
|
rs386833634
|
|
NM_000310.4(PPT1):c.170T>A (p.Met57Lys)
|
|
|
NM_000310.4(PPT1):c.170T>C (p.Met57Thr)
|
rs766489334
|
|
NM_000310.4(PPT1):c.175del (p.Glu59fs)
|
rs386833635
|
|
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.183A>G (p.Lys61=)
|
|
|
NM_000310.4(PPT1):c.184del (p.Ile62fs)
|
rs1057517192
|
|
NM_000310.4(PPT1):c.189T>C (p.Pro63=)
|
|
|
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.19C>T (p.Leu7=)
|
|
|
NM_000310.4(PPT1):c.1A>C (p.Met1Leu)
|
|
|
NM_000310.4(PPT1):c.213G>A (p.Glu71=)
|
rs2124488338
|
|
NM_000310.4(PPT1):c.216T>C (p.Ile72=)
|
|
|
NM_000310.4(PPT1):c.218G>A (p.Gly73Glu)
|
rs1649619197
|
|
NM_000310.4(PPT1):c.218G>C (p.Gly73Ala)
|
rs1649619197
|
|
NM_000310.4(PPT1):c.219G>C (p.Gly73=)
|
|
|
NM_000310.4(PPT1):c.21G>A (p.Leu7=)
|
|
|
NM_000310.4(PPT1):c.21_25dup (p.Leu9fs)
|
|
|
NM_000310.4(PPT1):c.228G>C (p.Leu76=)
|
|
|
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+10T>A
|
rs942502702
|
|
NM_000310.4(PPT1):c.234+1G>A
|
rs796052923
|
|
NM_000310.4(PPT1):c.234+7C>A
|
rs200777536
|
|
NM_000310.4(PPT1):c.234+7C>G
|
|
|
NM_000310.4(PPT1):c.234+8G>A
|
rs746750426
|
|
NM_000310.4(PPT1):c.234+8G>C
|
|
|
NM_000310.4(PPT1):c.234+8G>T
|
rs746750426
|
|
NM_000310.4(PPT1):c.235-18C>T
|
|
|
NM_000310.4(PPT1):c.235-1G>A
|
|
|
NM_000310.4(PPT1):c.235-1G>C
|
rs2124487981
|
|
NM_000310.4(PPT1):c.235-5T>C
|
|
|
NM_000310.4(PPT1):c.235-6T>C
|
rs377208127
|
|
NM_000310.4(PPT1):c.235-7T>G
|
|
|
NM_000310.4(PPT1):c.235-8T>G
|
rs776672029
|
|
NM_000310.4(PPT1):c.235-9C>A
|
rs1206919819
|
|
NM_000310.4(PPT1):c.236A>G (p.Asp79Gly)
|
rs137852697
|
|
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.249CTT[2] (p.Phe85del)
|
rs386833637
|
|
NM_000310.4(PPT1):c.256T>C (p.Leu86=)
|
rs1570470451
|
|
NM_000310.4(PPT1):c.258G>A (p.Leu86=)
|
rs2124487930
|
|
NM_000310.4(PPT1):c.25C>T (p.Leu9Phe)
|
|
|
NM_000310.4(PPT1):c.261T>C (p.Asn87=)
|
|
|
NM_000310.4(PPT1):c.263del (p.Val88fs)
|
rs2124487925
|
|
NM_000310.4(PPT1):c.264C>T (p.Val88=)
|
rs2124487920
|
|
NM_000310.4(PPT1):c.265A>G (p.Asn89Asp)
|
rs1649599567
|
|
NM_000310.4(PPT1):c.270C>T (p.Ser90=)
|
rs2124487917
|
|
NM_000310.4(PPT1):c.276A>G (p.Val92=)
|
|
|
NM_000310.4(PPT1):c.277A>G (p.Thr93Ala)
|
|
|
NM_000310.4(PPT1):c.27C>G (p.Leu9=)
|
rs765173260
|
|
NM_000310.4(PPT1):c.27C>T (p.Leu9=)
|
rs765173260
|
|
NM_000310.4(PPT1):c.282A>T (p.Thr94=)
|
rs753828114
|
|
NM_000310.4(PPT1):c.285G>A (p.Val95=)
|
rs777865799
|
|
NM_000310.4(PPT1):c.286T>C (p.Cys96Arg)
|
rs2124487866
|
|
NM_000310.4(PPT1):c.289_290del (p.Gln97fs)
|
rs1649597261
|
|
NM_000310.4(PPT1):c.290del (p.Gln97fs)
|
|
|
NM_000310.4(PPT1):c.293C>T (p.Ala98Val)
|
rs768065632
|
|
NM_000310.4(PPT1):c.294_297dup (p.Ala100fs)
|
rs1057517049
|
|
NM_000310.4(PPT1):c.29_41del (p.Leu10fs)
|
rs762226836
|
|
NM_000310.4(PPT1):c.29_41dup (p.Leu15fs)
|
rs762226836
|
|
NM_000310.4(PPT1):c.2T>A (p.Met1Lys)
|
rs796052927
|
|
NM_000310.4(PPT1):c.309T>C (p.Pro103=)
|
|
|
NM_000310.4(PPT1):c.30_42dup (p.Leu15fs)
|
|
|
NM_000310.4(PPT1):c.316C>T (p.Gln106Ter)
|
|
|
NM_000310.4(PPT1):c.317A>G (p.Gln106Arg)
|
|
|
NM_000310.4(PPT1):c.319C>T (p.Gln107Ter)
|
|
|
NM_000310.4(PPT1):c.326A>C (p.Tyr109Ser)
|
|
|
NM_000310.4(PPT1):c.326A>G (p.Tyr109Cys)
|
|
|
NM_000310.4(PPT1):c.328A>G (p.Asn110Asp)
|
rs776026842
|
|
NM_000310.4(PPT1):c.32C>A (p.Ala11Asp)
|
|
|
NM_000310.4(PPT1):c.330T>A (p.Asn110Lys)
|
|
|
NM_000310.4(PPT1):c.330T>G (p.Asn110Lys)
|
|
|
NM_000310.4(PPT1):c.334A>G (p.Met112Val)
|
rs760532726
|
|
NM_000310.4(PPT1):c.335_336del (p.Met112fs)
|
rs1570470281
|
|
NM_000310.4(PPT1):c.341T>C (p.Phe114Ser)
|
rs771910918
|
|
NM_000310.4(PPT1):c.343_344dup (p.Gln116fs)
|
rs2124487750
|
|
NM_000310.4(PPT1):c.35T>C (p.Val12Ala)
|
|
|
NM_000310.4(PPT1):c.362+10T>A
|
rs2124487685
|
|
NM_000310.4(PPT1):c.362+11T>C
|
|
|
NM_000310.4(PPT1):c.362+18dup
|
|
|
NM_000310.4(PPT1):c.362+19T>A
|
rs558442488
|
|
NM_000310.4(PPT1):c.362+19T>C
|
rs558442488
|
|
NM_000310.4(PPT1):c.362+1G>A
|
rs1057517401
|
|
NM_000310.4(PPT1):c.362+20A>G
|
|
|
NM_000310.4(PPT1):c.362+5G>A
|
rs796052924
|
|
NM_000310.4(PPT1):c.362+8C>T
|
rs2124487694
|
|
NM_000310.4(PPT1):c.362+9C>G
|
|
|
NM_000310.4(PPT1):c.362+9C>T
|
rs753316381
|
|
NM_000310.4(PPT1):c.363-18C>T
|
|
|
NM_000310.4(PPT1):c.363-2A>G
|
rs1553167430
|
|
NM_000310.4(PPT1):c.363-4G>C
|
rs117284255
|
|
NM_000310.4(PPT1):c.363-4G>T
|
rs117284255
|
|
NM_000310.4(PPT1):c.363-5C>G
|
rs112553480
|
|
NM_000310.4(PPT1):c.363G>A (p.Leu121=)
|
|
|
NM_000310.4(PPT1):c.36G>A (p.Val12=)
|
|
|
NM_000310.4(PPT1):c.36G>T (p.Val12=)
|
|
|
NM_000310.4(PPT1):c.378G>A (p.Gln126=)
|
rs2124486877
|
|
NM_000310.4(PPT1):c.384C>T (p.Cys128=)
|
rs1014940109
|
|
NM_000310.4(PPT1):c.386C>T (p.Pro129Leu)
|
|
|
NM_000310.4(PPT1):c.393T>C (p.Pro131=)
|
rs1222439879
|
|
NM_000310.4(PPT1):c.398del (p.Met133fs)
|
rs386833644
|
|
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.411C>T (p.Ile137=)
|
|
|
NM_000310.4(PPT1):c.414G>A (p.Ser138=)
|
|
|
NM_000310.4(PPT1):c.414G>T (p.Ser138=)
|
|
|
NM_000310.4(PPT1):c.428A>G (p.His143Arg)
|
|
|
NM_000310.4(PPT1):c.430C>G (p.Gln144Glu)
|
|
|
NM_000310.4(PPT1):c.432del (p.Gly145fs)
|
|
|
NM_000310.4(PPT1):c.433+10C>T
|
|
|
NM_000310.4(PPT1):c.433+14T>C
|
|
|
NM_000310.4(PPT1):c.433+15_433+16del
|
|
|
NM_000310.4(PPT1):c.433+1G>A
|
rs1553167415
|
|
NM_000310.4(PPT1):c.433+5C>A
|
rs1553167414
|
|
NM_000310.4(PPT1):c.433+7_433+8del
|
rs750997143
|
|
NM_000310.4(PPT1):c.433+9G>A
|
|
|
NM_000310.4(PPT1):c.433+9G>C
|
rs1649550153
|
|
NM_000310.4(PPT1):c.433G>A (p.Gly145Ser)
|
rs369186379
|
|
NM_000310.4(PPT1):c.434-10A>G
|
|
|
NM_000310.4(PPT1):c.434-14A>G
|
rs1355083951
|
|
NM_000310.4(PPT1):c.434-1G>C
|
|
|
NM_000310.4(PPT1):c.440_441del (p.Phe147fs)
|
|
|
NM_000310.4(PPT1):c.441T>C (p.Phe147=)
|
rs1258668425
|
|
NM_000310.4(PPT1):c.443G>A (p.Gly148Glu)
|
|
|
NM_000310.4(PPT1):c.443G>T (p.Gly148Val)
|
|
|
NM_000310.4(PPT1):c.444A>G (p.Gly148=)
|
|
|
NM_000310.4(PPT1):c.447C>T (p.Leu149=)
|
|
|
NM_000310.4(PPT1):c.451C>G (p.Arg151Gly)
|
rs137852700
|
|
NM_000310.4(PPT1):c.455del (p.Cys152fs)
|
rs886041568
|
|
NM_000310.4(PPT1):c.456C>T (p.Cys152=)
|
|
|
NM_000310.4(PPT1):c.459A>G (p.Pro153=)
|
|
|
NM_000310.4(PPT1):c.45G>T (p.Leu15=)
|
|
|
NM_000310.4(PPT1):c.474C>A (p.His158Gln)
|
|
|
NM_000310.4(PPT1):c.474C>T (p.His158=)
|
rs549251715
|
|
NM_000310.4(PPT1):c.480T>C (p.Cys160=)
|
rs2124484321
|
|
NM_000310.4(PPT1):c.480_481del (p.Cys160_Asp161delinsTer)
|
|
|
NM_000310.4(PPT1):c.489C>A (p.Ile163=)
|
rs1649438329
|
|
NM_000310.4(PPT1):c.48A>T (p.Pro16=)
|
|
|
NM_000310.4(PPT1):c.491G>A (p.Arg164Gln)
|
|
|
NM_000310.4(PPT1):c.492A>G (p.Arg164=)
|
|
|
NM_000310.4(PPT1):c.498A>C (p.Thr166=)
|
|
|
NM_000310.4(PPT1):c.499C>T (p.Leu167=)
|
|
|
NM_000310.4(PPT1):c.49T>C (p.Trp17Arg)
|
rs775853398
|
|
NM_000310.4(PPT1):c.501G>C (p.Leu167=)
|
|
|
NM_000310.4(PPT1):c.507T>C (p.Ala169=)
|
|
|
NM_000310.4(PPT1):c.509G>A (p.Gly170Glu)
|
rs1553167257
|
|
NM_000310.4(PPT1):c.511G>C (p.Ala171Pro)
|
|
|
NM_000310.4(PPT1):c.513G>T (p.Ala171=)
|
|
|
NM_000310.4(PPT1):c.518C>T (p.Ser173Phe)
|
rs1649436438
|
|
NM_000310.4(PPT1):c.51G>A (p.Trp17Ter)
|
rs2124494531
|
|
NM_000310.4(PPT1):c.520A>G (p.Lys174Glu)
|
rs1649436304
|
|
NM_000310.4(PPT1):c.521A>G (p.Lys174Arg)
|
|
|
NM_000310.4(PPT1):c.529C>T (p.Gln177Ter)
|
rs386833650
|
|
NM_000310.4(PPT1):c.532del (p.Glu178fs)
|
rs878853325
|
|
NM_000310.4(PPT1):c.533A>T (p.Glu178Val)
|
|
|
NM_000310.4(PPT1):c.534A>G (p.Glu178=)
|
|
|
NM_000310.4(PPT1):c.536+10G>A
|
rs1293510783
|
|
NM_000310.4(PPT1):c.536+18A>C
|
|
|
NM_000310.4(PPT1):c.536+20A>G
|
|
|
NM_000310.4(PPT1):c.536+7A>G
|
rs960897155
|
|
NM_000310.4(PPT1):c.536+8T>C
|
|
|
NM_000310.4(PPT1):c.536+8T>G
|
|
|
NM_000310.4(PPT1):c.537-12T>G
|
|
|
NM_000310.4(PPT1):c.537-13T>C
|
|
|
NM_000310.4(PPT1):c.537-15T>C
|
|
|
NM_000310.4(PPT1):c.537-15T>G
|
|
|
NM_000310.4(PPT1):c.537-16_537-10dup
|
rs760997725
|
|
NM_000310.4(PPT1):c.537-16dup
|
rs760997725
|
|
NM_000310.4(PPT1):c.537-17C>G
|
|
|
NM_000310.4(PPT1):c.537-3C>T
|
|
|
NM_000310.4(PPT1):c.537-8T>A
|
|
|
NM_000310.4(PPT1):c.537-8T>G
|
|
|
NM_000310.4(PPT1):c.537-8del
|
rs760997725
|
|
NM_000310.4(PPT1):c.537-9T>C
|
rs1196766699
|
|
NM_000310.4(PPT1):c.541G>C (p.Val181Leu)
|
rs148412181
|
|
NM_000310.4(PPT1):c.541G>T (p.Val181Leu)
|
rs148412181
|
|
NM_000310.4(PPT1):c.549C>T (p.Ala183=)
|
rs1408279040
|
|
NM_000310.4(PPT1):c.553T>C (p.Tyr185His)
|
rs2124474563
|
|
NM_000310.4(PPT1):c.555C>T (p.Tyr185=)
|
rs2124474560
|
|
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.579T>C (p.Asp193=)
|
|
|
NM_000310.4(PPT1):c.57C>G (p.Cys19Trp)
|
|
|
NM_000310.4(PPT1):c.57C>T (p.Cys19=)
|
|
|
NM_000310.4(PPT1):c.582G>A (p.Val194=)
|
|
|
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.588C>T (p.Arg196=)
|
|
|
NM_000310.4(PPT1):c.594C>T (p.His198=)
|
|
|
NM_000310.4(PPT1):c.59C>T (p.Ala20Val)
|
rs1187613034
|
|
NM_000310.4(PPT1):c.5C>T (p.Ala2Val)
|
|
|
NM_000310.4(PPT1):c.600C>A (p.Ile200=)
|
rs767606363
|
|
NM_000310.4(PPT1):c.604T>C (p.Leu202=)
|
|
|
NM_000310.4(PPT1):c.607G>A (p.Ala203Thr)
|
|
|
NM_000310.4(PPT1):c.607del (p.Ala203fs)
|
|
|
NM_000310.4(PPT1):c.60T>C (p.Ala20=)
|
|
|
NM_000310.4(PPT1):c.614_620del (p.Ile205fs)
|
rs2124474476
|
|
NM_000310.4(PPT1):c.627+10C>G
|
|
|
NM_000310.4(PPT1):c.627+12A>T
|
|
|
NM_000310.4(PPT1):c.627+15C>G
|
|
|
NM_000310.4(PPT1):c.627+1G>T
|
rs1265044710
|
|
NM_000310.4(PPT1):c.627+4A>G
|
rs572153728
|
|
NM_000310.4(PPT1):c.628-11C>A
|
|
|
NM_000310.4(PPT1):c.628-15T>G
|
rs2124472415
|
|
NM_000310.4(PPT1):c.628-19T>A
|
|
|
NM_000310.4(PPT1):c.628-2A>G
|
rs2124472385
|
|
NM_000310.4(PPT1):c.628-2A>T
|
|
|
NM_000310.4(PPT1):c.628-2_642del
|
|
|
NM_000310.4(PPT1):c.628-3dup
|
|
|
NM_000310.4(PPT1):c.628-5T>G
|
|
|
NM_000310.4(PPT1):c.628-9_628-8delinsGC
|
rs2124472401
|
|
NM_000310.4(PPT1):c.628G>A (p.Gly210Ser)
|
rs200434104
|
|
NM_000310.4(PPT1):c.629_630dup (p.Ile211fs)
|
rs1302326945
|
|
NM_000310.4(PPT1):c.630T>C (p.Gly210=)
|
rs1402937226
|
|
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.637G>T (p.Glu213Ter)
|
|
|
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.651A>G (p.Lys217=)
|
rs1553166517
|
|
NM_000310.4(PPT1):c.653dup (p.Asn218fs)
|
rs1057516889
|
|
NM_000310.4(PPT1):c.65G>C (p.Arg22Pro)
|
rs1649904164
|
|
NM_000310.4(PPT1):c.662C>T (p.Ala221Val)
|
|
|
NM_000310.4(PPT1):c.669G>A (p.Lys223=)
|
|
|
NM_000310.4(PPT1):c.674T>C (p.Phe225Ser)
|
rs386833662
|
|
NM_000310.4(PPT1):c.678G>C (p.Val226=)
|
|
|
NM_000310.4(PPT1):c.690C>T (p.Phe230=)
|
rs1648754113
|
|
NM_000310.4(PPT1):c.693C>G (p.Leu231=)
|
rs2124472262
|
|
NM_000310.4(PPT1):c.693C>T (p.Leu231=)
|
rs2124472262
|
|
NM_000310.4(PPT1):c.696T>G (p.Asn232Lys)
|
|
|
NM_000310.4(PPT1):c.6G>C (p.Ala2=)
|
rs587781121
|
|
NM_000310.4(PPT1):c.6del (p.Ser3fs)
|
rs1570476221
|
|
NM_000310.4(PPT1):c.702C>T (p.Ser234=)
|
|
|
NM_000310.4(PPT1):c.704T>C (p.Ile235Thr)
|
|
|
NM_000310.4(PPT1):c.705T>C (p.Ile235=)
|
rs1057515448
|
|
NM_000310.4(PPT1):c.707T>A (p.Val236Glu)
|
rs878853324
|
|
NM_000310.4(PPT1):c.711C>T (p.Asp237=)
|
|
|
NM_000310.4(PPT1):c.712_713del (p.Pro238fs)
|
rs2124472229
|
|
NM_000310.4(PPT1):c.713C>T (p.Pro238Leu)
|
rs878853322
|
|
NM_000310.4(PPT1):c.717A>G (p.Val239=)
|
rs1263161320
|
|
NM_000310.4(PPT1):c.718G>A (p.Asp240Asn)
|
rs796052926
|
|
NM_000310.4(PPT1):c.721del (p.Ser241fs)
|
rs1553166499
|
|
NM_000310.4(PPT1):c.722C>A (p.Ser241Ter)
|
|
|
NM_000310.4(PPT1):c.723G>T (p.Ser241=)
|
|
|
NM_000310.4(PPT1):c.726+13T>C
|
rs1012254796
|
|
NM_000310.4(PPT1):c.726+17G>A
|
rs757350622
|
|
NM_000310.4(PPT1):c.726+19C>T
|
|
|
NM_000310.4(PPT1):c.726+2T>G
|
|
|
NM_000310.4(PPT1):c.726+8A>G
|
rs1648749980
|
|
NM_000310.4(PPT1):c.726+9C>G
|
rs1024088820
|
|
NM_000310.4(PPT1):c.727-10T>G
|
rs554894547
|
|
NM_000310.4(PPT1):c.727-11_727-3del
|
rs2124470397
|
|
NM_000310.4(PPT1):c.727-17C>T
|
|
|
NM_000310.4(PPT1):c.727-18C>G
|
|
|
NM_000310.4(PPT1):c.727-1G>A
|
rs1648659458
|
|
NM_000310.4(PPT1):c.727-2A>T
|
rs386833664
|
|
NM_000310.4(PPT1):c.728G>A (p.Trp243Ter)
|
rs1477443863
|
|
NM_000310.4(PPT1):c.72G>A (p.Leu24=)
|
|
|
NM_000310.4(PPT1):c.72_73delinsTT (p.Gln25Ter)
|
|
|
NM_000310.4(PPT1):c.733G>A (p.Gly245Arg)
|
rs1259755308
|
|
NM_000310.4(PPT1):c.733G>C (p.Gly245Arg)
|
rs1259755308
|
|
NM_000310.4(PPT1):c.741C>A (p.Tyr247Ter)
|
rs2124470378
|
|
NM_000310.4(PPT1):c.741C>T (p.Tyr247=)
|
|
|
NM_000310.4(PPT1):c.744A>G (p.Arg248=)
|
rs2124470357
|
|
NM_000310.4(PPT1):c.745A>T (p.Ser249Cys)
|
|
|
NM_000310.4(PPT1):c.748G>A (p.Gly250Ser)
|
|
|
NM_000310.4(PPT1):c.749G>A (p.Gly250Asp)
|
rs386833666
|
|
NM_000310.4(PPT1):c.770C>T (p.Pro257Leu)
|
rs2124470302
|
|
NM_000310.4(PPT1):c.771C>A (p.Pro257=)
|
rs1321890707
|
|
NM_000310.4(PPT1):c.775C>T (p.Gln259Ter)
|
|
|
NM_000310.4(PPT1):c.794C>G (p.Thr265Arg)
|
rs746139685
|
|
NM_000310.4(PPT1):c.798+12G>A
|
|
|
NM_000310.4(PPT1):c.798+13del
|
|
|
NM_000310.4(PPT1):c.798+1G>T
|
rs878853929
|
|
NM_000310.4(PPT1):c.798+2T>C
|
rs1553166337
|
|
NM_000310.4(PPT1):c.798+7_798+22del
|
rs2124470212
|
|
NM_000310.4(PPT1):c.799-11T>G
|
|
|
NM_000310.4(PPT1):c.799-12T>C
|
|
|
NM_000310.4(PPT1):c.799-18T>C
|
|
|
NM_000310.4(PPT1):c.799-19A>G
|
|
|
NM_000310.4(PPT1):c.799-22_799-19del
|
|
|
NM_000310.4(PPT1):c.799-4G>A
|
|
|
NM_000310.4(PPT1):c.799-6C>G
|
|
|
NM_000310.4(PPT1):c.799-7T>C
|
|
|
NM_000310.4(PPT1):c.799-8T>C
|
|
|
NM_000310.4(PPT1):c.799-9C>A
|
|
|
NM_000310.4(PPT1):c.799-9C>T
|
|
|
NM_000310.4(PPT1):c.810G>A (p.Gly270=)
|
rs371213189
|
|
NM_000310.4(PPT1):c.810G>T (p.Gly270=)
|
|
|
NM_000310.4(PPT1):c.810del (p.Gly270_Leu271insTer)
|
rs794727955
|
|
NM_000310.4(PPT1):c.813A>G (p.Leu271=)
|
rs2124465658
|
|
NM_000310.4(PPT1):c.819A>G (p.Glu273=)
|
rs2124465651
|
|
NM_000310.4(PPT1):c.81G>A (p.Leu27=)
|
|
|
NM_000310.4(PPT1):c.820del (p.Met274fs)
|
|
|
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.828T>C (p.Asn276=)
|
rs1648440502
|
|
NM_000310.4(PPT1):c.832G>A (p.Gly278Arg)
|
rs1243793048
|
|
NM_000310.4(PPT1):c.838C>T (p.Leu280=)
|
|
|
NM_000310.4(PPT1):c.840A>G (p.Leu280=)
|
rs769125787
|
|
NM_000310.4(PPT1):c.843G>A (p.Val281=)
|
rs1337941065
|
|
NM_000310.4(PPT1):c.849G>A (p.Leu283=)
|
|
|
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.873G>A (p.Gln291=)
|
|
|
NM_000310.4(PPT1):c.878C>T (p.Ser293Phe)
|
rs374154128
|
|
NM_000310.4(PPT1):c.879T>A (p.Ser293=)
|
|
|
NM_000310.4(PPT1):c.885A>G (p.Glu295=)
|
rs2124465517
|
|
NM_000310.4(PPT1):c.888G>A (p.Trp296Ter)
|
rs386833670
|
|
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.897C>A (p.Ala299=)
|
rs2124465491
|
|
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.906A>G (p.Ile302Met)
|
|
|
NM_000310.4(PPT1):c.909A>G (p.Pro303=)
|
rs1570448364
|
|
NM_000310.4(PPT1):c.910T>C (p.Phe304Leu)
|
rs1557704819
|
|
NM_000310.4(PPT1):c.914T>G (p.Leu305Arg)
|
rs386833671
|
|
NM_000310.4(PPT1):c.916G>C (p.Gly306Arg)
|
|
|
NM_000310.4(PPT1):c.97C>T (p.Leu33=)
|
|
|
NM_000310.4(PPT1):c.98T>A (p.Leu33Gln)
|
rs2124494434
|
|