ClinVar Miner

List of variants in gene PPT1 reported by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 508
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HGVS dbSNP gnomAD frequency
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

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