ClinVar Miner

List of variants studied for Neuronal ceroid lipofuscinosis 1

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 670
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HGVS dbSNP gnomAD frequency
NM_000310.4(PPT1):c.125-77G>C rs4481840 0.99450
NM_000310.4(PPT1):c.433+79A>G rs3122439 0.99439
NM_000310.3(PPT1):c.-83A>G rs6600313 0.84142
NM_000310.4(PPT1):c.627+105A>C rs3122428 0.73827
NM_000310.4(PPT1):c.*657G>A rs1126973 0.70032
NM_000310.4(PPT1):c.*285T>G rs1126970 0.69809
NM_000310.4(PPT1):c.*505C>G rs1126972 0.69788
NM_000310.4(PPT1):c.*526_*529dup rs397730033 0.65895
NM_000310.4(PPT1):c.362+61C>T rs6672053 0.64379
NM_000310.4(PPT1):c.*161T>C rs11552578 0.11358
NM_000310.3(PPT1):c.-109C>A rs41301070 0.08852
NM_000310.4(PPT1):c.537-50G>A rs77623018 0.05975
NM_000310.4(PPT1):c.434-90G>C rs6689837 0.05108
NM_000310.4(PPT1):c.401T>C (p.Ile134Thr) rs1800205 0.04289
NM_000310.4(PPT1):c.*1275G>A rs12061777 0.03316
NM_000310.4(PPT1):c.837G>C (p.Gln279His) rs72937434 0.02506
NM_000310.4(PPT1):c.124+18T>G rs113394351 0.01757
NM_000310.4(PPT1):c.*456A>G rs76250039 0.01107
NM_000310.4(PPT1):c.*878T>C rs74638149 0.00984
NM_000310.4(PPT1):c.*3C>A rs150454815 0.00852
NM_000310.4(PPT1):c.363-18C>G rs143235344 0.00531
NM_000310.3(PPT1):c.-201G>A rs116091180 0.00428
NM_000310.4(PPT1):c.363-4G>A rs117284255 0.00400
NM_000310.4(PPT1):c.*708A>C rs368715899 0.00355
NM_000310.4(PPT1):c.*901C>T rs146411558 0.00313
NM_000310.4(PPT1):c.*679C>A rs560639610 0.00301
NM_000310.4(PPT1):c.*1061C>T rs140459014 0.00170
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.*583G>A rs767942985 0.00088
NM_000310.4(PPT1):c.*388G>C rs56067238 0.00070
NM_000310.4(PPT1):c.*914A>G rs1005345754 0.00070
NM_000310.4(PPT1):c.*1295G>C rs180769534 0.00062
NM_000310.4(PPT1):c.364A>T (p.Arg122Trp) rs137852695 0.00061
NM_000310.4(PPT1):c.*568A>G rs541526824 0.00050
NM_000310.4(PPT1):c.799-19A>C rs367820578 0.00046
NM_000310.4(PPT1):c.451C>T (p.Arg151Ter) rs137852700 0.00038
NM_000310.3(PPT1):c.-158C>T rs747705034 0.00036
NM_000310.4(PPT1):c.83A>G (p.Asp28Gly) rs749909390 0.00020
NM_000310.4(PPT1):c.798+8G>A rs368106574 0.00018
NM_018941.4(CLN8):c.200C>T (p.Ala67Val) rs373957283 0.00013
NM_000310.4(PPT1):c.*1019C>T rs1057515445 0.00012
NM_000310.4(PPT1):c.329A>G (p.Asn110Ser) rs142894102 0.00012
NM_000310.4(PPT1):c.657G>C (p.Leu219=) rs773591614 0.00011
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.*470T>C rs979602950 0.00008
NM_000310.4(PPT1):c.*6G>A rs113082671 0.00008
NM_000310.4(PPT1):c.802C>T (p.Arg268Cys) rs200813294 0.00008
NM_000310.4(PPT1):c.*340T>G rs1012813914 0.00007
NM_000310.4(PPT1):c.*802C>T rs983979078 0.00007
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.627+9C>T rs368895182 0.00007
NM_000310.4(PPT1):c.*1154T>C rs562172868 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.223A>C (p.Thr75Pro) rs137852696 0.00006
NM_000310.4(PPT1):c.541G>A (p.Val181Met) rs148412181 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.198C>T (p.Tyr66=) rs200035288 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.543G>A (p.Val181=) rs374121503 0.00005
NM_000310.4(PPT1):c.634A>G (p.Asn212Asp) rs375831846 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.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.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.635A>G (p.Asn212Ser) rs568730410 0.00004
NM_000310.4(PPT1):c.810G>C (p.Gly270=) rs371213189 0.00004
NM_000310.4(PPT1):c.*781A>T rs1057515517 0.00003
NM_000310.4(PPT1):c.-10C>T rs761610817 0.00003
NM_000310.4(PPT1):c.124+9G>C rs547801545 0.00003
NM_000310.4(PPT1):c.234+14C>T rs779785372 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.416T>C (p.Val139Ala) rs766961054 0.00003
NM_000310.4(PPT1):c.434-12C>T rs1195845438 0.00003
NM_000310.4(PPT1):c.491G>A (p.Arg164Gln) rs201892691 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.803G>A (p.Arg268His) rs763536047 0.00003
NM_000310.4(PPT1):c.*910C>T rs1057515446 0.00002
NM_000310.4(PPT1):c.124+6T>C rs759641557 0.00002
NM_000310.4(PPT1):c.124+7G>T rs1649898430 0.00002
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.537-12T>C rs1057515556 0.00002
NM_000310.4(PPT1):c.566C>T (p.Pro189Leu) rs386833658 0.00002
NM_000310.4(PPT1):c.627+8C>T rs1427848229 0.00002
NM_000310.4(PPT1):c.628-2A>G rs2124472385 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.799-16G>C rs1294889179 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.124+19T>G rs1341312978 0.00001
NM_000310.4(PPT1):c.124+1G>A rs386833628 0.00001
NM_000310.4(PPT1):c.124+20A>G rs1225903133 0.00001
NM_000310.4(PPT1):c.125-14G>A rs1649627487 0.00001
NM_000310.4(PPT1):c.125-19A>G rs372257702 0.00001
NM_000310.4(PPT1):c.125-5G>A rs777893002 0.00001
NM_000310.4(PPT1):c.125G>A (p.Gly42Glu) rs386833631 0.00001
NM_000310.4(PPT1):c.12C>T (p.Pro4=) rs140289866 0.00001
NM_000310.4(PPT1):c.143C>T (p.Pro48Leu) rs1232105636 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.183A>G (p.Lys61=) rs1649622343 0.00001
NM_000310.4(PPT1):c.18C>T (p.Cys6=) rs765938149 0.00001
NM_000310.4(PPT1):c.190G>C (p.Gly64Arg) rs762320173 0.00001
NM_000310.4(PPT1):c.199G>A (p.Val67Ile) rs149945902 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.235-5T>C rs1325787292 0.00001
NM_000310.4(PPT1):c.235-7T>G rs1248899218 0.00001
NM_000310.4(PPT1):c.238G>A (p.Val80Met) rs370396045 0.00001
NM_000310.4(PPT1):c.239T>G (p.Val80Gly) rs762619451 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.330T>G (p.Asn110Lys) rs1320425016 0.00001
NM_000310.4(PPT1):c.334A>T (p.Met112Leu) rs760532726 0.00001
NM_000310.4(PPT1):c.353G>A (p.Gly118Asp) rs143657539 0.00001
NM_000310.4(PPT1):c.362+18dup rs2523687421 0.00001
NM_000310.4(PPT1):c.362+20A>G rs1460913262 0.00001
NM_000310.4(PPT1):c.362+9C>G rs753316381 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.410T>C (p.Ile137Thr) rs1649553228 0.00001
NM_000310.4(PPT1):c.414G>A (p.Ser138=) rs375016993 0.00001
NM_000310.4(PPT1):c.424C>T (p.Gln142Ter) rs796052925 0.00001
NM_000310.4(PPT1):c.42C>T (p.Leu14=) rs371884332 0.00001
NM_000310.4(PPT1):c.433+10C>T rs1343334003 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.444A>G (p.Gly148=) rs1337942495 0.00001
NM_000310.4(PPT1):c.452G>A (p.Arg151Gln) rs779343776 0.00001
NM_000310.4(PPT1):c.459A>G (p.Pro153=) rs925670645 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.499C>T (p.Leu167=) rs1263303183 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.521A>G (p.Lys174Arg) rs764378796 0.00001
NM_000310.4(PPT1):c.536+18A>C rs1209207433 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.537-13T>C rs1171058021 0.00001
NM_000310.4(PPT1):c.537-15T>C rs1648875688 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.549C>T (p.Ala183=) rs1408279040 0.00001
NM_000310.4(PPT1):c.550G>A (p.Glu184Lys) rs386833655 0.00001
NM_000310.4(PPT1):c.560A>G (p.His187Arg) rs386833657 0.00001
NM_000310.4(PPT1):c.566C>G (p.Pro189Arg) rs386833658 0.00001
NM_000310.4(PPT1):c.57C>G (p.Cys19Trp) rs530467912 0.00001
NM_000310.4(PPT1):c.626G>A (p.Arg209Gln) rs201265025 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.702C>T (p.Ser234=) rs779783483 0.00001
NM_000310.4(PPT1):c.711C>T (p.Asp237=) rs1648751390 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.726+13T>C rs1012254796 0.00001
NM_000310.4(PPT1):c.726+2T>C rs1398080802 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.745A>T (p.Ser249Cys) rs1002065621 0.00001
NM_000310.4(PPT1):c.748G>A (p.Gly250Ser) rs1648657739 0.00001
NM_000310.4(PPT1):c.762A>C (p.Glu254Asp) rs146002450 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.799-18T>C rs1468385779 0.00001
NM_000310.4(PPT1):c.817G>A (p.Glu273Lys) rs1193191643 0.00001
NM_000310.4(PPT1):c.819A>G (p.Glu273=) rs2124465651 0.00001
NM_000310.4(PPT1):c.828T>C (p.Asn276=) rs1648440502 0.00001
NM_000310.4(PPT1):c.830C>T (p.Ala277Val) rs1447656117 0.00001
NM_000310.4(PPT1):c.838C>T (p.Leu280=) rs188477623 0.00001
NM_000310.4(PPT1):c.86C>A (p.Pro29Gln) rs778256566 0.00001
NM_000310.4(PPT1):c.873G>A (p.Gln291=) rs1031494186 0.00001
NM_000310.4(PPT1):c.877T>C (p.Ser293Pro) rs1304668396 0.00001
NM_000310.4(PPT1):c.878C>T (p.Ser293Phe) rs374154128 0.00001
NM_000310.4(PPT1):c.879T>A (p.Ser293=) rs769994024 0.00001
NM_000310.4(PPT1):c.896C>T (p.Ala299Val) rs768943497 0.00001
NM_000310.4(PPT1):c.89C>T (p.Pro30Leu) rs757268571 0.00001
NM_000310.4(PPT1):c.8C>T (p.Ser3Leu) rs747204624 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.(?_40539713)_(40562930_?)dup
NC_000001.10:g.(?_40539733)_(40539875_?)dup
NC_000001.10:g.(?_40539733)_(40546179_?)dup
NC_000001.10:g.(?_40542494)_(40542605_?)del
NC_000001.10:g.(?_40542494)_(40546179_?)del
NC_000001.10:g.(?_40542494)_(40562910_?)del
NC_000001.10:g.(?_40546049)_(40546179_?)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.-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.*526_*529del rs386833624
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.102G>C (p.Pro34=) rs561112232
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) rs2523709256
NM_000310.4(PPT1):c.113G>C (p.Trp38Ser) rs1026370829
NM_000310.4(PPT1):c.114G>A (p.Trp38Ter) rs386833626
NM_000310.4(PPT1):c.114G>T (p.Trp38Cys) rs386833626
NM_000310.4(PPT1):c.114del (p.Trp38fs) rs386833625
NM_000310.4(PPT1):c.115_120del (p.His39_Gly40del) rs2124494364
NM_000310.4(PPT1):c.117T>A (p.His39Gln) rs386833627
NM_000310.4(PPT1):c.120G>A (p.Gly40=) rs1430048390
NM_000310.4(PPT1):c.124+1215_235-103del
NM_000310.4(PPT1):c.124+12A>G
NM_000310.4(PPT1):c.124+13G>A rs763458409
NM_000310.4(PPT1):c.124+14A>G rs2523709132
NM_000310.4(PPT1):c.124+15A>T rs2523709126
NM_000310.4(PPT1):c.124+1G>T
NM_000310.4(PPT1):c.124+2T>A rs1057517368
NM_000310.4(PPT1):c.124+2TGAG[2] rs768863525
NM_000310.4(PPT1):c.124+7G>A rs1649898430
NM_000310.4(PPT1):c.124+8A>C rs774515183
NM_000310.4(PPT1):c.124G>A (p.Gly42Arg) rs1649898946
NM_000310.4(PPT1):c.125-15T>G rs386833629
NM_000310.4(PPT1):c.125-18T>C rs1398575366
NM_000310.4(PPT1):c.125-2A>G rs386833630
NM_000310.4(PPT1):c.125-2A>T rs386833630
NM_000310.4(PPT1):c.125-3T>C rs2523690520
NM_000310.4(PPT1):c.125-6G>C rs2523690554
NM_000310.4(PPT1):c.125-9G>A rs2523690589
NM_000310.4(PPT1):c.127G>A (p.Asp43Asn)
NM_000310.4(PPT1):c.133T>C (p.Cys45Arg) rs878853323
NM_000310.4(PPT1):c.134G>A (p.Cys45Tyr) rs137852702
NM_000310.4(PPT1):c.135_137dup (p.Cys46dup) rs386833632
NM_000310.4(PPT1):c.138C>T (p.Cys46=) rs2523690430
NM_000310.4(PPT1):c.144C>T (p.Pro48=) rs1265214190
NM_000310.4(PPT1):c.146T>G (p.Leu49Ter) rs1557714302
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.163A>T (p.Lys55Ter) rs386833633
NM_000310.4(PPT1):c.167A>T (p.Lys56Ile) rs2124488428
NM_000310.4(PPT1):c.169del (p.Met57fs) rs386833634
NM_000310.4(PPT1):c.169dup (p.Met57fs) rs386833634
NM_000310.4(PPT1):c.170T>A (p.Met57Lys) rs766489334
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.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.184A>C (p.Ile62Leu)
NM_000310.4(PPT1):c.184del (p.Ile62fs) rs1057517192
NM_000310.4(PPT1):c.189T>C (p.Pro63=) rs1391612853
NM_000310.4(PPT1):c.18C>A (p.Cys6Ter)
NM_000310.4(PPT1):c.18_21del (p.Leu7fs) rs1553167863
NM_000310.4(PPT1):c.191G>A (p.Gly64Glu) rs2523690018
NM_000310.4(PPT1):c.19C>A (p.Leu7Met) rs375262288
NM_000310.4(PPT1):c.19C>T (p.Leu7=) rs375262288
NM_000310.4(PPT1):c.1A>C (p.Met1Leu) rs1085307087
NM_000310.4(PPT1):c.1A>G (p.Met1Val) rs1085307087
NM_000310.4(PPT1):c.213G>A (p.Glu71=) rs2124488338
NM_000310.4(PPT1):c.216T>C (p.Ile72=) rs998610907
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=) rs2523689849
NM_000310.4(PPT1):c.21G>A (p.Leu7=) rs2523709894
NM_000310.4(PPT1):c.21_25dup (p.Leu9fs) rs2523709882
NM_000310.4(PPT1):c.228G>C (p.Leu76=) rs2523689780
NM_000310.4(PPT1):c.233A>C (p.Glu78Ala) rs769365325
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+13A>G
NM_000310.4(PPT1):c.234+1G>A rs796052923
NM_000310.4(PPT1):c.234+2T>C rs2523689662
NM_000310.4(PPT1):c.234+2T>G rs2523689662
NM_000310.4(PPT1):c.234+7C>A rs200777536
NM_000310.4(PPT1):c.234+7C>G rs200777536
NM_000310.4(PPT1):c.234+8G>A rs746750426
NM_000310.4(PPT1):c.234+8G>C rs746750426
NM_000310.4(PPT1):c.234+8G>T rs746750426
NM_000310.4(PPT1):c.235-18C>T rs2523688452
NM_000310.4(PPT1):c.235-1G>A rs2124487981
NM_000310.4(PPT1):c.235-1G>C rs2124487981
NM_000310.4(PPT1):c.235-20C>T
NM_000310.4(PPT1):c.235-3T>C rs386833636
NM_000310.4(PPT1):c.235-6T>C rs377208127
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) rs373867152
NM_000310.4(PPT1):c.241G>A (p.Glu81Lys) rs2523688318
NM_000310.4(PPT1):c.246C>A (p.Asn82Lys) rs2523688304
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) rs2523709874
NM_000310.4(PPT1):c.261T>C (p.Asn87=) rs1444699051
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.267T>C (p.Asn89=)
NM_000310.4(PPT1):c.270C>T (p.Ser90=) rs2124487917
NM_000310.4(PPT1):c.271_287delinsTT (p.Gln91_Cys96delinsPhe) rs386833638
NM_000310.4(PPT1):c.276A>G (p.Val92=) rs1379772634
NM_000310.4(PPT1):c.277A>G (p.Thr93Ala) rs2523688095
NM_000310.4(PPT1):c.27C>A (p.Leu9=)
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.281_282del (p.Thr94fs) rs1553167479
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.286_289dup (p.Gln97fs) rs2523688009
NM_000310.4(PPT1):c.289_290del (p.Gln97fs) rs1649597261
NM_000310.4(PPT1):c.290del (p.Gln97fs) rs2523687999
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=) rs2523687866
NM_000310.4(PPT1):c.30_42dup (p.Leu15fs) rs776995551
NM_000310.4(PPT1):c.310A>T (p.Lys104Ter) rs386833641
NM_000310.4(PPT1):c.316C>T (p.Gln106Ter) rs2523687837
NM_000310.4(PPT1):c.317A>G (p.Gln106Arg) rs2523687828
NM_000310.4(PPT1):c.319C>T (p.Gln107Ter) rs2523687822
NM_000310.4(PPT1):c.322G>C (p.Gly108Arg) rs137852701
NM_000310.4(PPT1):c.326A>C (p.Tyr109Ser) rs1228395356
NM_000310.4(PPT1):c.326A>G (p.Tyr109Cys) rs1228395356
NM_000310.4(PPT1):c.327C>A (p.Tyr109Ter) rs1057516447
NM_000310.4(PPT1):c.328A>G (p.Asn110Asp) rs776026842
NM_000310.4(PPT1):c.32C>A (p.Ala11Asp) rs2523709819
NM_000310.4(PPT1):c.330T>A (p.Asn110Lys) rs1320425016
NM_000310.4(PPT1):c.334A>G (p.Met112Val) rs760532726
NM_000310.4(PPT1):c.335T>C (p.Met112Thr) rs2523687692
NM_000310.4(PPT1):c.335_336del (p.Met112fs) rs1570470281
NM_000310.4(PPT1):c.338del (p.Gly113fs) rs1553167474
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) rs1291510931
NM_000310.4(PPT1):c.362+10T>A rs2124487685
NM_000310.4(PPT1):c.362+11T>C rs1553167465
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+5G>A rs796052924
NM_000310.4(PPT1):c.362+8C>T rs2124487694
NM_000310.4(PPT1):c.362+9C>T rs753316381
NM_000310.4(PPT1):c.363-18C>T rs143235344
NM_000310.4(PPT1):c.363-2A>G rs1553167430
NM_000310.4(PPT1):c.363-3T>G rs386833643
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=) rs201820661
NM_000310.4(PPT1):c.367del (p.Ala123fs) rs2523684410
NM_000310.4(PPT1):c.36G>A (p.Val12=) rs891853528
NM_000310.4(PPT1):c.36G>T (p.Val12=) rs891853528
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) rs758786265
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) rs1800205
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.411C>T (p.Ile137=) rs2124486809
NM_000310.4(PPT1):c.414G>T (p.Ser138=) rs375016993
NM_000310.4(PPT1):c.426A>G (p.Gln142=) rs759480265
NM_000310.4(PPT1):c.428A>G (p.His143Arg) rs1307096849
NM_000310.4(PPT1):c.430C>G (p.Gln144Glu) rs2523683926
NM_000310.4(PPT1):c.432del (p.Gly145fs) rs2523683923
NM_000310.4(PPT1):c.433+14T>C rs2523683751
NM_000310.4(PPT1):c.433+15_433+16del rs2523683736
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 rs1649550153
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 rs2523675884
NM_000310.4(PPT1):c.434-14A>G rs1355083951
NM_000310.4(PPT1):c.434-1G>C rs776987537
NM_000310.4(PPT1):c.434-7A>G
NM_000310.4(PPT1):c.440_441del (p.Phe147fs) rs2523675796
NM_000310.4(PPT1):c.441T>C (p.Phe147=) rs1258668425
NM_000310.4(PPT1):c.442G>T (p.Gly148Ter) rs2124484378
NM_000310.4(PPT1):c.443G>A (p.Gly148Glu) rs2523675772
NM_000310.4(PPT1):c.443G>T (p.Gly148Val) rs2523675772
NM_000310.4(PPT1):c.445C>A (p.Leu149Ile) rs775899980
NM_000310.4(PPT1):c.447C>T (p.Leu149=) rs2523675750
NM_000310.4(PPT1):c.451C>G (p.Arg151Gly) rs137852700
NM_000310.4(PPT1):c.455G>A (p.Cys152Tyr) rs386833647
NM_000310.4(PPT1):c.455del (p.Cys152fs) rs886041568
NM_000310.4(PPT1):c.456C>A (p.Cys152Ter) rs386833648
NM_000310.4(PPT1):c.456C>T (p.Cys152=) rs386833648
NM_000310.4(PPT1):c.457C>G (p.Pro153Ala)
NM_000310.4(PPT1):c.45G>T (p.Leu15=) rs2124494548
NM_000310.4(PPT1):c.471del (p.His158fs) rs1570467252
NM_000310.4(PPT1):c.474C>A (p.His158Gln) rs549251715
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) rs2523675546
NM_000310.4(PPT1):c.489C>A (p.Ile163=) rs1649438329
NM_000310.4(PPT1):c.48A>T (p.Pro16=) rs1003007171
NM_000310.4(PPT1):c.48_54del (p.Trp17fs) rs1057517112
NM_000310.4(PPT1):c.492A>G (p.Arg164=) rs2523675407
NM_000310.4(PPT1):c.498A>C (p.Thr166=) rs2523675375
NM_000310.4(PPT1):c.49T>C (p.Trp17Arg) rs775853398
NM_000310.4(PPT1):c.501G>C (p.Leu167=) rs2523675333
NM_000310.4(PPT1):c.507T>C (p.Ala169=) rs2523675295
NM_000310.4(PPT1):c.509G>A (p.Gly170Glu) rs1553167257
NM_000310.4(PPT1):c.50G>A (p.Trp17Ter) rs2523709689
NM_000310.4(PPT1):c.511G>C (p.Ala171Pro) rs1316121464
NM_000310.4(PPT1):c.513G>T (p.Ala171=) rs150924738
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.529C>T (p.Gln177Ter) rs386833650
NM_000310.4(PPT1):c.532del (p.Glu178fs) rs878853325
NM_000310.4(PPT1):c.533A>T (p.Glu178Val) rs774831480
NM_000310.4(PPT1):c.534A>G (p.Glu178=) rs771338519
NM_000310.4(PPT1):c.536+10G>A rs1293510783
NM_000310.4(PPT1):c.536+1G>A rs386833651
NM_000310.4(PPT1):c.536+20A>G rs779620553
NM_000310.4(PPT1):c.536+2T>C rs386833652
NM_000310.4(PPT1):c.536+7A>G rs960897155
NM_000310.4(PPT1):c.536+8T>C rs2523674837
NM_000310.4(PPT1):c.536+8T>G rs2523674837
NM_000310.4(PPT1):c.537-12T>G rs1057515556
NM_000310.4(PPT1):c.537-15T>G rs1648875688
NM_000310.4(PPT1):c.537-16dup rs760997725
NM_000310.4(PPT1):c.537-17C>G rs1482259792
NM_000310.4(PPT1):c.537-1G>A
NM_000310.4(PPT1):c.537-3C>T rs2523642844
NM_000310.4(PPT1):c.537-8T>A rs773581354
NM_000310.4(PPT1):c.537-8T>C rs773581354
NM_000310.4(PPT1):c.537-8T>G rs773581354
NM_000310.4(PPT1):c.537-8del rs760997725
NM_000310.4(PPT1):c.537-9T>C rs1196766699
NM_000310.4(PPT1):c.538dup (p.Leu180fs) rs386833653
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.544C>T (p.Gln182Ter) rs386833654
NM_000310.4(PPT1):c.54C>T (p.Thr18=) rs772052570
NM_000310.4(PPT1):c.551A>T (p.Glu184Val) rs2124474566
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.558G>A (p.Trp186Ter) rs386833656
NM_000310.4(PPT1):c.561_562del (p.His187fs) rs2523642598
NM_000310.4(PPT1):c.564C>A (p.Asp188Glu) rs1349674706
NM_000310.4(PPT1):c.56_57delinsCT (p.Cys19Ser) rs2523709635
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=) rs2523642516
NM_000310.4(PPT1):c.57C>T (p.Cys19=) rs530467912
NM_000310.4(PPT1):c.582G>A (p.Val194=) rs2523642508
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.585T>G (p.Tyr195Ter) rs2523642484
NM_000310.4(PPT1):c.588C>T (p.Arg196=) rs755854033
NM_000310.4(PPT1):c.594C>T (p.His198=) rs373332797
NM_000310.4(PPT1):c.59C>T (p.Ala20Val) rs1187613034
NM_000310.4(PPT1):c.5C>T (p.Ala2Val) rs369839395
NM_000310.4(PPT1):c.600C>A (p.Ile200=) rs767606363
NM_000310.4(PPT1):c.600C>T (p.Ile200=) rs767606363
NM_000310.4(PPT1):c.604T>C (p.Leu202=) rs1473357163
NM_000310.4(PPT1):c.606G>A (p.Leu202=)
NM_000310.4(PPT1):c.607G>A (p.Ala203Thr) rs2523642328
NM_000310.4(PPT1):c.607del (p.Ala203fs) rs2523642334
NM_000310.4(PPT1):c.60T>C (p.Ala20=) rs2523709573
NM_000310.4(PPT1):c.614_620del (p.Ile205fs) rs2124474476
NM_000310.4(PPT1):c.627+10C>G rs2523642131
NM_000310.4(PPT1):c.627+12A>T rs2523642126
NM_000310.4(PPT1):c.627+15C>G rs566932238
NM_000310.4(PPT1):c.627+15C>T rs566932238
NM_000310.4(PPT1):c.627+16G>C
NM_000310.4(PPT1):c.627+18del
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 rs2523635979
NM_000310.4(PPT1):c.628-15T>G rs2124472415
NM_000310.4(PPT1):c.628-15_628-12del
NM_000310.4(PPT1):c.628-19T>A rs2523636009
NM_000310.4(PPT1):c.628-1G>A rs386833659
NM_000310.4(PPT1):c.628-2A>T rs2124472385
NM_000310.4(PPT1):c.628-2_642del rs2523635789
NM_000310.4(PPT1):c.628-3dup rs2523635905
NM_000310.4(PPT1):c.628-5T>G rs1203591798
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.630dup (p.Ile211fs)
NM_000310.4(PPT1):c.634A>T (p.Asn212Tyr) rs375831846
NM_000310.4(PPT1):c.637G>T (p.Glu213Ter) rs2523635810
NM_000310.4(PPT1):c.644del (p.Tyr215fs) rs386833660
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.653del (p.Asn218fs) rs1057516889
NM_000310.4(PPT1):c.653dup (p.Asn218fs) rs1057516889
NM_000310.4(PPT1):c.656T>A (p.Leu219Gln) rs137852698
NM_000310.4(PPT1):c.65G>C (p.Arg22Pro) rs1649904164
NM_000310.4(PPT1):c.662C>T (p.Ala221Val) rs2523635695
NM_000310.4(PPT1):c.665_666del (p.Leu222fs) rs2523635666
NM_000310.4(PPT1):c.669G>A (p.Lys223=) rs1468274668
NM_000310.4(PPT1):c.674T>C (p.Phe225Ser) rs386833662
NM_000310.4(PPT1):c.678G>C (p.Val226=) rs1481792811
NM_000310.4(PPT1):c.680_684del (p.Met227fs) rs2523635615
NM_000310.4(PPT1):c.683T>G (p.Val228Gly) rs386833663
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) rs746776515
NM_000310.4(PPT1):c.69_125-76del
NM_000310.4(PPT1):c.6G>C (p.Ala2=) rs587781121
NM_000310.4(PPT1):c.6del (p.Ser3fs) rs1570476221
NM_000310.4(PPT1):c.704T>C (p.Ile235Thr) rs2523635549
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.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) rs746043871
NM_000310.4(PPT1):c.723G>T (p.Ser241=) rs778863462
NM_000310.4(PPT1):c.726+17G>A rs757350622
NM_000310.4(PPT1):c.726+18C>T
NM_000310.4(PPT1):c.726+19C>T rs1648749193
NM_000310.4(PPT1):c.726+2T>G rs1398080802
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 rs2124470410
NM_000310.4(PPT1):c.727-18C>G rs2523631495
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=) rs2523709458
NM_000310.4(PPT1):c.72G>C (p.Leu24=)
NM_000310.4(PPT1):c.72_73delinsTT (p.Gln25Ter) rs2523709453
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=) rs2124470378
NM_000310.4(PPT1):c.744A>G (p.Arg248=) rs2124470357
NM_000310.4(PPT1):c.749G>A (p.Gly250Asp) rs386833666
NM_000310.4(PPT1):c.749G>T (p.Gly250Val) rs386833666
NM_000310.4(PPT1):c.750C>A (p.Gly250=) rs1244256818
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.774dup (p.Gln259fs) rs386833667
NM_000310.4(PPT1):c.775C>T (p.Gln259Ter) rs2523631229
NM_000310.4(PPT1):c.794C>G (p.Thr265Arg) rs746139685
NM_000310.4(PPT1):c.798+12G>A rs1648654547
NM_000310.4(PPT1):c.798+13del rs2523631051
NM_000310.4(PPT1):c.798+14A>G
NM_000310.4(PPT1):c.798+1G>A
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 rs1382850137
NM_000310.4(PPT1):c.799-12T>C rs1648446800
NM_000310.4(PPT1):c.799-19A>G rs367820578
NM_000310.4(PPT1):c.799-22_799-19del rs780665845
NM_000310.4(PPT1):c.799-2A>G rs1553166147
NM_000310.4(PPT1):c.799-4G>A rs756821401
NM_000310.4(PPT1):c.799-6C>G rs2523621009
NM_000310.4(PPT1):c.799-7T>C rs964708746
NM_000310.4(PPT1):c.799-8T>C rs2523621031
NM_000310.4(PPT1):c.799-9C>A rs1337942571
NM_000310.4(PPT1):c.799-9C>T rs1337942571
NM_000310.4(PPT1):c.799del rs1648444864
NM_000310.4(PPT1):c.810G>A (p.Gly270=) rs371213189
NM_000310.4(PPT1):c.810G>T (p.Gly270=) rs371213189
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.81G>A (p.Leu27=) rs2523709420
NM_000310.4(PPT1):c.820del (p.Met274fs) rs2523620826
NM_000310.4(PPT1):c.820dup (p.Met274fs) rs2523620826
NM_000310.4(PPT1):c.821dup (p.Met274fs) rs1057516575
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.835C>T (p.Gln279Ter) rs1553166135
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=) rs2523620622
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.870T>A (p.Leu290=)
NM_000310.4(PPT1):c.871C>T (p.Gln291Ter) rs386833668
NM_000310.4(PPT1):c.885A>G (p.Glu295=) rs2124465517
NM_000310.4(PPT1):c.885del (p.Glu295fs) rs2523620344
NM_000310.4(PPT1):c.886T>C (p.Trp296Arg) rs386833669
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.897C>A (p.Ala299=) rs2124465491
NM_000310.4(PPT1):c.899A>C (p.His300Pro) rs2523620278
NM_000310.4(PPT1):c.89C>G (p.Pro30Arg) rs757268571
NM_000310.4(PPT1):c.8C>A (p.Ser3Ter) rs747204624
NM_000310.4(PPT1):c.902T>A (p.Ile301Asn) rs1648432406
NM_000310.4(PPT1):c.906A>G (p.Ile302Met) rs2523620240
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>C (p.Leu305Pro) rs386833671
NM_000310.4(PPT1):c.914T>G (p.Leu305Arg) rs386833671
NM_000310.4(PPT1):c.916G>C (p.Gly306Arg) rs2523620188
NM_000310.4(PPT1):c.97C>T (p.Leu33=) rs2523709325
NM_000310.4(PPT1):c.98T>A (p.Leu33Gln) rs2124494434
NM_000310.4(PPT1):c.9G>C (p.Ser3=)

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