ClinVar Miner

List of variants in gene PSTPIP1 reported by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 512
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HGVS dbSNP gnomAD frequency
NM_003978.5(PSTPIP1):c.915C>T (p.Cys305=) rs11858480 0.04154
NM_003978.5(PSTPIP1):c.773G>C (p.Gly258Ala) rs34240327 0.01363
NM_003978.5(PSTPIP1):c.642+16G>A rs78282498 0.01035
NM_003978.5(PSTPIP1):c.204G>A (p.Thr68=) rs113386299 0.00891
NM_003978.5(PSTPIP1):c.137+20del rs199952167 0.00688
NM_003978.5(PSTPIP1):c.212+12C>T rs3812914 0.00534
NM_003978.5(PSTPIP1):c.354+20C>T rs184279306 0.00523
NM_003978.5(PSTPIP1):c.1098G>A (p.Ala366=) rs35538044 0.00501
NM_003978.5(PSTPIP1):c.940C>T (p.Leu314=) rs201582038 0.00495
NM_003978.5(PSTPIP1):c.1112C>T (p.Thr371Ile) rs34908107 0.00355
NM_003978.5(PSTPIP1):c.1206C>T (p.Asn402=) rs146035424 0.00308
NM_003978.5(PSTPIP1):c.908C>T (p.Pro303Leu) rs189773500 0.00298
NM_003978.5(PSTPIP1):c.236C>T (p.Ser79Phe) rs77026017 0.00284
NM_003978.5(PSTPIP1):c.652C>T (p.Leu218=) rs35677716 0.00279
NM_003978.5(PSTPIP1):c.147G>A (p.Ala49=) rs34618738 0.00264
NM_003978.5(PSTPIP1):c.543G>A (p.Lys181=) rs375950478 0.00232
NM_003978.5(PSTPIP1):c.786C>T (p.Asp262=) rs35860563 0.00224
NM_003978.5(PSTPIP1):c.985+6G>C rs139552419 0.00191
NM_003978.5(PSTPIP1):c.799A>G (p.Ser267Gly) rs145239831 0.00173
NM_003978.5(PSTPIP1):c.657A>C (p.Gln219His) rs139362350 0.00166
NM_003978.5(PSTPIP1):c.1143C>T (p.Ser381=) rs141227274 0.00164
NM_003978.5(PSTPIP1):c.985+19G>T rs192912170 0.00163
NM_003978.5(PSTPIP1):c.247+20G>A rs188931087 0.00114
NM_003978.5(PSTPIP1):c.418-20A>G rs545542379 0.00088
NM_003978.5(PSTPIP1):c.1134G>A (p.Leu378=) rs529402949 0.00082
NM_003978.5(PSTPIP1):c.1213C>T (p.Arg405Cys) rs201253322 0.00049
NM_003978.5(PSTPIP1):c.203C>T (p.Thr68Met) rs201872851 0.00041
NM_003978.5(PSTPIP1):c.563-8G>A rs183441330 0.00037
NM_003978.5(PSTPIP1):c.418-6C>A rs200018722 0.00034
NM_003978.5(PSTPIP1):c.354+10G>A rs370745407 0.00032
NM_003978.5(PSTPIP1):c.929+17C>T rs372335370 0.00028
NM_003978.5(PSTPIP1):c.882G>A (p.Pro294=) rs200796501 0.00027
NM_003978.5(PSTPIP1):c.1208G>A (p.Gly403Glu) rs201572812 0.00026
NM_003978.5(PSTPIP1):c.1151A>G (p.Asp384Gly) rs200771233 0.00025
NM_003978.5(PSTPIP1):c.1105G>A (p.Asp369Asn) rs372261106 0.00024
NM_003978.5(PSTPIP1):c.693G>A (p.Leu231=) rs374055726 0.00024
NM_003978.5(PSTPIP1):c.1145C>T (p.Ala382Val) rs202205180 0.00022
NM_003978.5(PSTPIP1):c.587C>T (p.Ala196Val) rs370965231 0.00022
NM_003978.5(PSTPIP1):c.628C>T (p.Arg210Trp) rs200998074 0.00022
NM_003978.5(PSTPIP1):c.355-16C>G rs767272289 0.00015
NM_003978.5(PSTPIP1):c.1115C>T (p.Ala372Val) rs200188483 0.00014
NM_003978.5(PSTPIP1):c.1123C>G (p.Pro375Ala) rs781781950 0.00014
NM_003978.5(PSTPIP1):c.555C>T (p.Thr185=) rs370782742 0.00014
NM_003978.5(PSTPIP1):c.37T>G (p.Cys13Gly) rs376128040 0.00013
NM_003978.5(PSTPIP1):c.856A>G (p.Asn286Asp) rs377437961 0.00013
NM_003978.5(PSTPIP1):c.1054G>A (p.Glu352Lys) rs201186216 0.00012
NM_003978.5(PSTPIP1):c.1116G>A (p.Ala372=) rs369835681 0.00011
NM_003978.5(PSTPIP1):c.516G>A (p.Lys172=) rs887917369 0.00011
NM_003978.5(PSTPIP1):c.1120-20G>A rs200256020 0.00010
NM_003978.5(PSTPIP1):c.1014C>T (p.Pro338=) rs368838637 0.00009
NM_003978.5(PSTPIP1):c.1018C>T (p.Arg340Trp) rs377214787 0.00009
NM_003978.5(PSTPIP1):c.1182T>C (p.Asp394=) rs199804922 0.00009
NM_003978.5(PSTPIP1):c.429A>T (p.Thr143=) rs1141040 0.00009
NM_003978.5(PSTPIP1):c.517-4T>C rs571529866 0.00009
NM_003978.5(PSTPIP1):c.5T>C (p.Met2Thr) rs541085532 0.00009
NM_003978.5(PSTPIP1):c.839C>T (p.Ala280Val) rs139351566 0.00009
NM_003978.5(PSTPIP1):c.930-14C>T rs200876675 0.00009
NM_003978.5(PSTPIP1):c.1045G>A (p.Ala349Thr) rs187211142 0.00008
NM_003978.5(PSTPIP1):c.307C>T (p.Arg103Trp) rs768395688 0.00008
NM_003978.5(PSTPIP1):c.583A>T (p.Ile195Phe) rs1038499600 0.00008
NM_003978.5(PSTPIP1):c.1161G>A (p.Glu387=) rs138056015 0.00007
NM_003978.5(PSTPIP1):c.986C>T (p.Ala329Val) rs369498554 0.00007
NM_003978.5(PSTPIP1):c.1120-12T>C rs1177446255 0.00006
NM_003978.5(PSTPIP1):c.1146G>A (p.Ala382=) rs760234757 0.00006
NM_003978.5(PSTPIP1):c.1214G>A (p.Arg405His) rs754321842 0.00006
NM_003978.5(PSTPIP1):c.838+16C>T rs781423711 0.00006
NM_003978.5(PSTPIP1):c.1104C>T (p.Tyr368=) rs368373680 0.00005
NM_003978.5(PSTPIP1):c.1222G>A (p.Val408Ile) rs750572947 0.00005
NM_003978.5(PSTPIP1):c.212+13G>A rs375295026 0.00005
NM_003978.5(PSTPIP1):c.411C>A (p.Ala137=) rs368114895 0.00005
NM_003978.5(PSTPIP1):c.584T>C (p.Ile195Thr) rs771232034 0.00005
NM_003978.5(PSTPIP1):c.1027G>A (p.Gly343Ser) rs370404621 0.00004
NM_003978.5(PSTPIP1):c.1044C>T (p.Ile348=) rs370740664 0.00004
NM_003978.5(PSTPIP1):c.1093C>T (p.Arg365Trp) rs748306987 0.00004
NM_003978.5(PSTPIP1):c.159C>T (p.Tyr53=) rs563906441 0.00004
NM_003978.5(PSTPIP1):c.212A>G (p.Asn71Ser) rs961668608 0.00004
NM_003978.5(PSTPIP1):c.213-16C>A rs369508601 0.00004
NM_003978.5(PSTPIP1):c.214T>C (p.Ser72Pro) rs866295227 0.00004
NM_003978.5(PSTPIP1):c.548C>T (p.Ser183Leu) rs772549153 0.00004
NM_003978.5(PSTPIP1):c.605G>A (p.Arg202Gln) rs372461120 0.00004
NM_003978.5(PSTPIP1):c.687C>T (p.Asn229=) rs542286074 0.00004
NM_003978.5(PSTPIP1):c.765G>A (p.Thr255=) rs368685017 0.00004
NM_003978.5(PSTPIP1):c.839-16G>A rs776337082 0.00004
NM_003978.5(PSTPIP1):c.1158G>A (p.Leu386=) rs752462668 0.00003
NM_003978.5(PSTPIP1):c.296G>T (p.Arg99Leu) rs371065077 0.00003
NM_003978.5(PSTPIP1):c.352A>C (p.Lys118Gln) rs1000642747 0.00003
NM_003978.5(PSTPIP1):c.355-17C>T rs886038536 0.00003
NM_003978.5(PSTPIP1):c.418-9C>A rs763395091 0.00003
NM_003978.5(PSTPIP1):c.537G>A (p.Gln179=) rs927470089 0.00003
NM_003978.5(PSTPIP1):c.566G>A (p.Arg189Gln) rs375294517 0.00003
NM_003978.5(PSTPIP1):c.642+3G>A rs765423624 0.00003
NM_003978.5(PSTPIP1):c.655C>T (p.Gln219Ter) rs751668240 0.00003
NM_003978.5(PSTPIP1):c.747C>T (p.Tyr249=) rs557759616 0.00003
NM_003978.5(PSTPIP1):c.789C>T (p.Ala263=) rs201770311 0.00003
NM_003978.5(PSTPIP1):c.82C>T (p.Arg28Trp) rs767330325 0.00003
NM_003978.5(PSTPIP1):c.864C>T (p.Tyr288=) rs763986763 0.00003
NM_003978.5(PSTPIP1):c.924A>G (p.Ile308Met) rs748788047 0.00003
NM_003978.5(PSTPIP1):c.1062G>A (p.Gln354=) rs757597315 0.00002
NM_003978.5(PSTPIP1):c.1071G>A (p.Pro357=) rs367643394 0.00002
NM_003978.5(PSTPIP1):c.1120-9C>G rs747139033 0.00002
NM_003978.5(PSTPIP1):c.1120A>C (p.Asn374His) rs757828114 0.00002
NM_003978.5(PSTPIP1):c.1183G>A (p.Gly395Ser) rs142544259 0.00002
NM_003978.5(PSTPIP1):c.247+1G>A rs573784011 0.00002
NM_003978.5(PSTPIP1):c.308G>A (p.Arg103Gln) rs1250282129 0.00002
NM_003978.5(PSTPIP1):c.326G>A (p.Arg109His) rs772315853 0.00002
NM_003978.5(PSTPIP1):c.477G>A (p.Glu159=) rs780297337 0.00002
NM_003978.5(PSTPIP1):c.516+3G>A rs764658426 0.00002
NM_003978.5(PSTPIP1):c.549G>A (p.Ser183=) rs554161203 0.00002
NM_003978.5(PSTPIP1):c.586G>A (p.Ala196Thr) rs758911910 0.00002
NM_003978.5(PSTPIP1):c.643-13C>A rs200459219 0.00002
NM_003978.5(PSTPIP1):c.668G>A (p.Arg223Gln) rs777380464 0.00002
NM_003978.5(PSTPIP1):c.66C>T (p.Tyr22=) rs373516507 0.00002
NM_003978.5(PSTPIP1):c.682C>T (p.Arg228Cys) rs781341816 0.00002
NM_003978.5(PSTPIP1):c.758G>A (p.Arg253Gln) rs775811275 0.00002
NM_003978.5(PSTPIP1):c.764C>T (p.Thr255Met) rs766895096 0.00002
NM_003978.5(PSTPIP1):c.792C>T (p.Asp264=) rs1224633016 0.00002
NM_003978.5(PSTPIP1):c.838+9C>T rs778120164 0.00002
NM_003978.5(PSTPIP1):c.968C>T (p.Ser323Leu) rs765187272 0.00002
NM_003978.5(PSTPIP1):c.987G>A (p.Ala329=) rs750823506 0.00002
NM_003978.5(PSTPIP1):c.1015G>A (p.Glu339Lys) rs372468528 0.00001
NM_003978.5(PSTPIP1):c.1043T>C (p.Ile348Thr) rs1309288797 0.00001
NM_003978.5(PSTPIP1):c.1048G>A (p.Val350Met) rs368482922 0.00001
NM_003978.5(PSTPIP1):c.1056G>A (p.Glu352=) rs1469732250 0.00001
NM_003978.5(PSTPIP1):c.1068C>G (p.Asn356Lys) rs781251437 0.00001
NM_003978.5(PSTPIP1):c.1097C>T (p.Ala366Val) rs773832598 0.00001
NM_003978.5(PSTPIP1):c.1126G>A (p.Asp376Asn) rs984709043 0.00001
NM_003978.5(PSTPIP1):c.1138C>T (p.Leu380=) rs1316450945 0.00001
NM_003978.5(PSTPIP1):c.1176G>A (p.Gly392=) rs181929438 0.00001
NM_003978.5(PSTPIP1):c.1179G>A (p.Glu393=) rs1355605205 0.00001
NM_003978.5(PSTPIP1):c.1180G>A (p.Asp394Asn) rs377006780 0.00001
NM_003978.5(PSTPIP1):c.1218C>T (p.Gly406=) rs377114025 0.00001
NM_003978.5(PSTPIP1):c.123G>A (p.Glu41=) rs766141606 0.00001
NM_003978.5(PSTPIP1):c.1248T>C (p.Leu416=) rs556322755 0.00001
NM_003978.5(PSTPIP1):c.138-6T>C rs765550656 0.00001
NM_003978.5(PSTPIP1):c.146C>T (p.Ala49Val) rs756426938 0.00001
NM_003978.5(PSTPIP1):c.184C>T (p.Arg62Trp) rs375063664 0.00001
NM_003978.5(PSTPIP1):c.212+5G>A rs1280331114 0.00001
NM_003978.5(PSTPIP1):c.213-10T>C rs746522552 0.00001
NM_003978.5(PSTPIP1):c.222G>A (p.Arg74=) rs1435290161 0.00001
NM_003978.5(PSTPIP1):c.22A>G (p.Lys8Glu) rs199800583 0.00001
NM_003978.5(PSTPIP1):c.248-5C>T rs1266014755 0.00001
NM_003978.5(PSTPIP1):c.253G>A (p.Glu85Lys) rs1433818911 0.00001
NM_003978.5(PSTPIP1):c.29C>T (p.Ala10Val) rs775041579 0.00001
NM_003978.5(PSTPIP1):c.304C>T (p.Leu102=) rs1401702747 0.00001
NM_003978.5(PSTPIP1):c.316G>A (p.Glu106Lys) rs1141039 0.00001
NM_003978.5(PSTPIP1):c.318G>C (p.Glu106Asp) rs1415307232 0.00001
NM_003978.5(PSTPIP1):c.325C>T (p.Arg109Cys) rs569030059 0.00001
NM_003978.5(PSTPIP1):c.363C>T (p.Ala121=) rs1484169330 0.00001
NM_003978.5(PSTPIP1):c.364G>A (p.Val122Ile) rs886041107 0.00001
NM_003978.5(PSTPIP1):c.384G>A (p.Lys128=) rs868533109 0.00001
NM_003978.5(PSTPIP1):c.395C>T (p.Ser132Leu) rs777409558 0.00001
NM_003978.5(PSTPIP1):c.400T>C (p.Tyr134His) rs374212404 0.00001
NM_003978.5(PSTPIP1):c.426G>A (p.Lys142=) rs760205701 0.00001
NM_003978.5(PSTPIP1):c.432C>T (p.Tyr144=) rs370003508 0.00001
NM_003978.5(PSTPIP1):c.450C>T (p.Asp150=) rs758334058 0.00001
NM_003978.5(PSTPIP1):c.454G>C (p.Asp152His) rs375932577 0.00001
NM_003978.5(PSTPIP1):c.478C>A (p.Arg160Ser) rs1397291808 0.00001
NM_003978.5(PSTPIP1):c.488C>T (p.Ala163Val) rs774530073 0.00001
NM_003978.5(PSTPIP1):c.493G>A (p.Gly165Ser) rs762291063 0.00001
NM_003978.5(PSTPIP1):c.503A>G (p.Lys168Arg) rs770462479 0.00001
NM_003978.5(PSTPIP1):c.516+13G>T rs762824136 0.00001
NM_003978.5(PSTPIP1):c.516+4C>A rs752232834 0.00001
NM_003978.5(PSTPIP1):c.516+5G>A rs997648680 0.00001
NM_003978.5(PSTPIP1):c.563-18G>A rs748783442 0.00001
NM_003978.5(PSTPIP1):c.565C>T (p.Arg189Trp) rs542018257 0.00001
NM_003978.5(PSTPIP1):c.575G>A (p.Arg192Lys) rs760587319 0.00001
NM_003978.5(PSTPIP1):c.576G>A (p.Arg192=) rs766707210 0.00001
NM_003978.5(PSTPIP1):c.588G>A (p.Ala196=) rs558627384 0.00001
NM_003978.5(PSTPIP1):c.604C>T (p.Arg202Trp) rs781549267 0.00001
NM_003978.5(PSTPIP1):c.629G>A (p.Arg210Gln) rs776576205 0.00001
NM_003978.5(PSTPIP1):c.642+13C>T rs752786501 0.00001
NM_003978.5(PSTPIP1):c.642+20C>T rs201638707 0.00001
NM_003978.5(PSTPIP1):c.648T>C (p.Phe216=) rs763249966 0.00001
NM_003978.5(PSTPIP1):c.675C>T (p.Thr225=) rs770958110 0.00001
NM_003978.5(PSTPIP1):c.683G>A (p.Arg228His) rs1386762740 0.00001
NM_003978.5(PSTPIP1):c.702C>G (p.His234Gln) rs1420190742 0.00001
NM_003978.5(PSTPIP1):c.708C>T (p.Asn236=) rs768887430 0.00001
NM_003978.5(PSTPIP1):c.774C>G (p.Gly258=) rs2076438231 0.00001
NM_003978.5(PSTPIP1):c.795C>T (p.Ile265=) rs368528834 0.00001
NM_003978.5(PSTPIP1):c.797A>G (p.Asp266Gly) rs1333618864 0.00001
NM_003978.5(PSTPIP1):c.816G>C (p.Lys272Asn) rs867312193 0.00001
NM_003978.5(PSTPIP1):c.831G>T (p.Glu277Asp) rs990986006 0.00001
NM_003978.5(PSTPIP1):c.838+10G>A rs747042572 0.00001
NM_003978.5(PSTPIP1):c.839-16G>T rs776337082 0.00001
NM_003978.5(PSTPIP1):c.83G>A (p.Arg28Gln) rs750445188 0.00001
NM_003978.5(PSTPIP1):c.86T>C (p.Leu29Pro) rs1375790630 0.00001
NM_003978.5(PSTPIP1):c.881C>T (p.Pro294Leu) rs756411737 0.00001
NM_003978.5(PSTPIP1):c.929+10C>T rs774212289 0.00001
NM_003978.5(PSTPIP1):c.929+18G>A rs773172907 0.00001
NM_003978.5(PSTPIP1):c.929+5G>A rs768632688 0.00001
NM_003978.5(PSTPIP1):c.948C>T (p.His316=) rs1386946850 0.00001
NM_003978.5(PSTPIP1):c.949G>A (p.Gly317Arg) rs557172402 0.00001
NM_003978.5(PSTPIP1):c.954T>C (p.Ser318=) rs202234078 0.00001
NM_003978.5(PSTPIP1):c.985+18G>A rs1404451877 0.00001
NM_003978.5(PSTPIP1):c.994G>A (p.Glu332Lys) rs751889307 0.00001
NM_003978.5(PSTPIP1):c.997A>C (p.Thr333Pro) rs746898326 0.00001
NC_000015.10:g.(?_77030482)_(77037196_?)dup
NC_000015.9:g.(?_77287915)_(77287970_?)dup
NC_000015.9:g.(?_77310469)_(77329517_?)dup
NC_000015.9:g.(?_77310861)_(77315342_?)del
NC_000015.9:g.(?_77310868)_77315342del
NC_000015.9:g.(?_77317819)_(77321013_?)del
NC_000015.9:g.(?_77320875)_(77328296_?)del
NC_000015.9:g.(?_77327829)_(77327924_?)del
NM_003978.3(PSTPIP1):c.517_518delAG rs878855322
NM_003978.5(PSTPIP1):c.1002G>A (p.Leu334=)
NM_003978.5(PSTPIP1):c.1019G>A (p.Arg340Gln) rs768664787
NM_003978.5(PSTPIP1):c.1032C>T (p.Val344=) rs1568527489
NM_003978.5(PSTPIP1):c.1037C>A (p.Thr346Lys)
NM_003978.5(PSTPIP1):c.1040C>A (p.Ala347Asp) rs374682350
NM_003978.5(PSTPIP1):c.1047A>T (p.Ala349=)
NM_003978.5(PSTPIP1):c.1053G>A (p.Gln351=)
NM_003978.5(PSTPIP1):c.1055A>C (p.Glu352Ala)
NM_003978.5(PSTPIP1):c.1060C>T (p.Gln354Ter)
NM_003978.5(PSTPIP1):c.1064G>T (p.Gly355Val) rs2152692046
NM_003978.5(PSTPIP1):c.1070C>T (p.Pro357Leu) rs755840747
NM_003978.5(PSTPIP1):c.1074C>T (p.Ala358=) rs2076557282
NM_003978.5(PSTPIP1):c.1086G>A (p.Gln362=) rs528187669
NM_003978.5(PSTPIP1):c.1104C>A (p.Tyr368Ter) rs368373680
NM_003978.5(PSTPIP1):c.1110T>A (p.Tyr370Ter) rs762667938
NM_003978.5(PSTPIP1):c.1119+15C>G rs755168700
NM_003978.5(PSTPIP1):c.1119+15C>T
NM_003978.5(PSTPIP1):c.1119+17_1119+36del
NM_003978.5(PSTPIP1):c.1119+3_1119+6dup rs1596141513
NM_003978.5(PSTPIP1):c.1119+5G>A rs756068066
NM_003978.5(PSTPIP1):c.1119+5G>C rs756068066
NM_003978.5(PSTPIP1):c.1120-11del rs1231169202
NM_003978.5(PSTPIP1):c.1120-13A>G
NM_003978.5(PSTPIP1):c.1120-4C>T
NM_003978.5(PSTPIP1):c.1124C>T (p.Pro375Leu) rs1338203882
NM_003978.5(PSTPIP1):c.1129G>A (p.Glu377Lys)
NM_003978.5(PSTPIP1):c.1137C>T (p.Asp379=)
NM_003978.5(PSTPIP1):c.1144G>A (p.Ala382Thr) rs145344175
NM_003978.5(PSTPIP1):c.1144G>C (p.Ala382Pro) rs145344175
NM_003978.5(PSTPIP1):c.1144G>T (p.Ala382Ser)
NM_003978.5(PSTPIP1):c.1145C>A (p.Ala382Glu) rs202205180
NM_003978.5(PSTPIP1):c.1146G>C (p.Ala382=)
NM_003978.5(PSTPIP1):c.1150G>A (p.Asp384Asn)
NM_003978.5(PSTPIP1):c.1170G>A (p.Leu390=)
NM_003978.5(PSTPIP1):c.1172_1175dup (p.Glu393fs)
NM_003978.5(PSTPIP1):c.1177G>A (p.Glu393Lys) rs781437901
NM_003978.5(PSTPIP1):c.1184G>A (p.Gly395Asp) rs2076598654
NM_003978.5(PSTPIP1):c.1192A>G (p.Thr398Ala)
NM_003978.5(PSTPIP1):c.1196T>C (p.Val399Ala) rs1193580867
NM_003978.5(PSTPIP1):c.1201A>G (p.Arg401Gly) rs2076599290
NM_003978.5(PSTPIP1):c.1207G>A (p.Gly403Arg) rs369113632
NM_003978.5(PSTPIP1):c.1207G>C (p.Gly403Arg) rs369113632
NM_003978.5(PSTPIP1):c.1215T>A (p.Arg405=) rs887633148
NM_003978.5(PSTPIP1):c.1220T>C (p.Phe407Ser) rs2152692942
NM_003978.5(PSTPIP1):c.1221C>A (p.Phe407Leu) rs200363654
NM_003978.5(PSTPIP1):c.1221C>T (p.Phe407=) rs200363654
NM_003978.5(PSTPIP1):c.1222dup (p.Val408fs) rs1392091785
NM_003978.5(PSTPIP1):c.1223T>A (p.Val408Asp)
NM_003978.5(PSTPIP1):c.1225C>T (p.Pro409Ser)
NM_003978.5(PSTPIP1):c.1228G>A (p.Gly410Ser) rs2152692953
NM_003978.5(PSTPIP1):c.1233C>T (p.Ser411=) rs538042433
NM_003978.5(PSTPIP1):c.1237C>G (p.Leu413Val)
NM_003978.5(PSTPIP1):c.1241A>G (p.Glu414Gly)
NM_003978.5(PSTPIP1):c.1241A>T (p.Glu414Val) rs2152692961
NM_003978.5(PSTPIP1):c.1242G>A (p.Glu414=) rs1158206044
NM_003978.5(PSTPIP1):c.1242G>C (p.Glu414Asp) rs1158206044
NM_003978.5(PSTPIP1):c.127C>G (p.Leu43Val) rs2152678787
NM_003978.5(PSTPIP1):c.135G>A (p.Gln45=)
NM_003978.5(PSTPIP1):c.137+12G>T
NM_003978.5(PSTPIP1):c.137+6C>T
NM_003978.5(PSTPIP1):c.138-14C>T
NM_003978.5(PSTPIP1):c.138-15C>T
NM_003978.5(PSTPIP1):c.138-5del
NM_003978.5(PSTPIP1):c.138-5dup rs755268431
NM_003978.5(PSTPIP1):c.15G>A (p.Leu5=)
NM_003978.5(PSTPIP1):c.162G>A (p.Gly54=)
NM_003978.5(PSTPIP1):c.165G>A (p.Lys55=)
NM_003978.5(PSTPIP1):c.168G>A (p.Glu56=)
NM_003978.5(PSTPIP1):c.172G>T (p.Val58Leu)
NM_003978.5(PSTPIP1):c.174G>A (p.Val58=)
NM_003978.5(PSTPIP1):c.177del (p.Ile60fs) rs2152679010
NM_003978.5(PSTPIP1):c.17A>G (p.Gln6Arg)
NM_003978.5(PSTPIP1):c.17A>T (p.Gln6Leu)
NM_003978.5(PSTPIP1):c.180C>T (p.Ile60=)
NM_003978.5(PSTPIP1):c.181G>A (p.Ala61Thr)
NM_003978.5(PSTPIP1):c.181G>T (p.Ala61Ser) rs568503340
NM_003978.5(PSTPIP1):c.185G>A (p.Arg62Gln) rs754304151
NM_003978.5(PSTPIP1):c.189G>A (p.Lys63=)
NM_003978.5(PSTPIP1):c.201G>A (p.Gln67=)
NM_003978.5(PSTPIP1):c.212+17C>T
NM_003978.5(PSTPIP1):c.212+18C>T
NM_003978.5(PSTPIP1):c.212+1G>A rs2152679042
NM_003978.5(PSTPIP1):c.212+20G>A
NM_003978.5(PSTPIP1):c.212+8C>A
NM_003978.5(PSTPIP1):c.212+9T>A
NM_003978.5(PSTPIP1):c.213-10T>G rs746522552
NM_003978.5(PSTPIP1):c.213-13A>G
NM_003978.5(PSTPIP1):c.213-16C>T
NM_003978.5(PSTPIP1):c.213-8T>G
NM_003978.5(PSTPIP1):c.214T>A (p.Ser72Thr)
NM_003978.5(PSTPIP1):c.224C>T (p.Ala75Val) rs2152683730
NM_003978.5(PSTPIP1):c.225C>T (p.Ala75=)
NM_003978.5(PSTPIP1):c.228C>T (p.Ser76=)
NM_003978.5(PSTPIP1):c.245A>G (p.Gln82Arg)
NM_003978.5(PSTPIP1):c.247+14C>T
NM_003978.5(PSTPIP1):c.247+7C>A
NM_003978.5(PSTPIP1):c.247+9C>T
NM_003978.5(PSTPIP1):c.247C>A (p.Gln83Lys) rs377719165
NM_003978.5(PSTPIP1):c.247C>T (p.Gln83Ter) rs377719165
NM_003978.5(PSTPIP1):c.255G>A (p.Glu85=) rs1014025734
NM_003978.5(PSTPIP1):c.255G>C (p.Glu85Asp) rs1014025734
NM_003978.5(PSTPIP1):c.256A>G (p.Asn86Asp) rs2152683891
NM_003978.5(PSTPIP1):c.280C>T (p.Leu94=)
NM_003978.5(PSTPIP1):c.296G>A (p.Arg99His)
NM_003978.5(PSTPIP1):c.304C>G (p.Leu102Val) rs1401702747
NM_003978.5(PSTPIP1):c.305T>C (p.Leu102Pro)
NM_003978.5(PSTPIP1):c.315C>T (p.Leu105=)
NM_003978.5(PSTPIP1):c.32T>C (p.Phe11Ser)
NM_003978.5(PSTPIP1):c.342G>A (p.Glu114=) rs1431414496
NM_003978.5(PSTPIP1):c.344A>C (p.Gln115Pro) rs2076261726
NM_003978.5(PSTPIP1):c.351G>T (p.Lys117Asn)
NM_003978.5(PSTPIP1):c.354+12G>T
NM_003978.5(PSTPIP1):c.354+13C>T rs1207783811
NM_003978.5(PSTPIP1):c.354+17G>A
NM_003978.5(PSTPIP1):c.354+20C>A rs184279306
NM_003978.5(PSTPIP1):c.354+20_354+21delinsTC
NM_003978.5(PSTPIP1):c.355-11G>T
NM_003978.5(PSTPIP1):c.355-12T>C
NM_003978.5(PSTPIP1):c.355-14C>T
NM_003978.5(PSTPIP1):c.355-2A>G
NM_003978.5(PSTPIP1):c.355-8C>T
NM_003978.5(PSTPIP1):c.35G>C (p.Trp12Ser)
NM_003978.5(PSTPIP1):c.36+15T>C rs752123803
NM_003978.5(PSTPIP1):c.36+19_36+22dup
NM_003978.5(PSTPIP1):c.37-17_37-15del
NM_003978.5(PSTPIP1):c.373C>A (p.Arg125=) rs750160336
NM_003978.5(PSTPIP1):c.374G>A (p.Arg125Gln)
NM_003978.5(PSTPIP1):c.376G>A (p.Val126Ile)
NM_003978.5(PSTPIP1):c.376G>T (p.Val126Phe) rs1468002596
NM_003978.5(PSTPIP1):c.395C>G (p.Ser132Trp)
NM_003978.5(PSTPIP1):c.39C>G (p.Cys13Trp) rs2076087868
NM_003978.5(PSTPIP1):c.403AAG[1] (p.Lys136del)
NM_003978.5(PSTPIP1):c.417+10A>C rs758258744
NM_003978.5(PSTPIP1):c.417+10A>G
NM_003978.5(PSTPIP1):c.417+6C>G rs2076320514
NM_003978.5(PSTPIP1):c.417+7G>A rs1035113783
NM_003978.5(PSTPIP1):c.418-11_418-9dup
NM_003978.5(PSTPIP1):c.418-13T>C
NM_003978.5(PSTPIP1):c.418-4_418-3del rs749862420
NM_003978.5(PSTPIP1):c.418-5C>T rs2152685978
NM_003978.5(PSTPIP1):c.41G>A (p.Arg14Lys)
NM_003978.5(PSTPIP1):c.420C>T (p.Ser140=)
NM_003978.5(PSTPIP1):c.425A>C (p.Lys142Thr) rs1181890332
NM_003978.5(PSTPIP1):c.430T>C (p.Tyr144His)
NM_003978.5(PSTPIP1):c.430T>G (p.Tyr144Asp) rs377240256
NM_003978.5(PSTPIP1):c.431A>T (p.Tyr144Phe) rs2076340597
NM_003978.5(PSTPIP1):c.432C>G (p.Tyr144Ter) rs370003508
NM_003978.5(PSTPIP1):c.433G>A (p.Glu145Lys)
NM_003978.5(PSTPIP1):c.443G>T (p.Cys148Phe)
NM_003978.5(PSTPIP1):c.445C>A (p.Arg149=)
NM_003978.5(PSTPIP1):c.445del (p.Arg149fs) rs1441606629
NM_003978.5(PSTPIP1):c.446G>A (p.Arg149Gln) rs1141042
NM_003978.5(PSTPIP1):c.451G>A (p.Ala151Thr) rs1141043
NM_003978.5(PSTPIP1):c.452C>G (p.Ala151Gly) rs1160921792
NM_003978.5(PSTPIP1):c.456C>T (p.Asp152=)
NM_003978.5(PSTPIP1):c.457G>A (p.Asp153Asn)
NM_003978.5(PSTPIP1):c.45C>T (p.Asp15=)
NM_003978.5(PSTPIP1):c.460G>T (p.Ala154Ser) rs781516273
NM_003978.5(PSTPIP1):c.462G>A (p.Ala154=)
NM_003978.5(PSTPIP1):c.469G>A (p.Ala157Thr) rs2076342688
NM_003978.5(PSTPIP1):c.469G>T (p.Ala157Ser) rs2076342688
NM_003978.5(PSTPIP1):c.470C>A (p.Ala157Asp) rs2076342762
NM_003978.5(PSTPIP1):c.474C>T (p.Phe158=)
NM_003978.5(PSTPIP1):c.481A>C (p.Ile161Leu)
NM_003978.5(PSTPIP1):c.484A>T (p.Ser162Cys)
NM_003978.5(PSTPIP1):c.492C>G (p.Asn164Lys)
NM_003978.5(PSTPIP1):c.492C>T (p.Asn164=)
NM_003978.5(PSTPIP1):c.50C>T (p.Thr17Ile) rs1235260030
NM_003978.5(PSTPIP1):c.516+10G>C
NM_003978.5(PSTPIP1):c.516+14_516+40del rs2152686129
NM_003978.5(PSTPIP1):c.516+20C>A
NM_003978.5(PSTPIP1):c.516+8G>A
NM_003978.5(PSTPIP1):c.517-12_517-11del rs778522775
NM_003978.5(PSTPIP1):c.517-16C>T
NM_003978.5(PSTPIP1):c.517-20C>T
NM_003978.5(PSTPIP1):c.528A>G (p.Lys176=)
NM_003978.5(PSTPIP1):c.531C>T (p.Ala177=) rs2152686764
NM_003978.5(PSTPIP1):c.532A>G (p.Arg178Gly)
NM_003978.5(PSTPIP1):c.535C>T (p.Gln179Ter) rs867813339
NM_003978.5(PSTPIP1):c.539G>A (p.Cys180Tyr) rs1337020537
NM_003978.5(PSTPIP1):c.54C>T (p.Ala18=)
NM_003978.5(PSTPIP1):c.558G>A (p.Glu186=) rs879254120
NM_003978.5(PSTPIP1):c.562+9G>A
NM_003978.5(PSTPIP1):c.563-14G>A
NM_003978.5(PSTPIP1):c.563-9C>A
NM_003978.5(PSTPIP1):c.563-9C>T rs768152191
NM_003978.5(PSTPIP1):c.570A>G (p.Val190=) rs2152687500
NM_003978.5(PSTPIP1):c.572A>G (p.Tyr191Cys)
NM_003978.5(PSTPIP1):c.573C>T (p.Tyr191=)
NM_003978.5(PSTPIP1):c.579G>T (p.Gln193His) rs2076388885
NM_003978.5(PSTPIP1):c.585T>C (p.Ile195=)
NM_003978.5(PSTPIP1):c.587C>A (p.Ala196Glu)
NM_003978.5(PSTPIP1):c.58A>C (p.Thr20Pro)
NM_003978.5(PSTPIP1):c.595G>A (p.Glu199Lys) rs1430542503
NM_003978.5(PSTPIP1):c.59C>T (p.Thr20Met) rs553718554
NM_003978.5(PSTPIP1):c.602T>C (p.Val201Ala)
NM_003978.5(PSTPIP1):c.607G>A (p.Ala203Thr) rs768226088
NM_003978.5(PSTPIP1):c.60G>A (p.Thr20=) rs572721166
NM_003978.5(PSTPIP1):c.60G>C (p.Thr20=) rs572721166
NM_003978.5(PSTPIP1):c.613T>C (p.Trp205Arg)
NM_003978.5(PSTPIP1):c.618G>A (p.Glu206=)
NM_003978.5(PSTPIP1):c.621G>A (p.Gln207=) rs2076390026
NM_003978.5(PSTPIP1):c.629G>C (p.Arg210Pro) rs776576205
NM_003978.5(PSTPIP1):c.62_63delinsAA (p.Gly21Glu) rs2152678736
NM_003978.5(PSTPIP1):c.639T>A (p.Cys213Ter) rs2076390490
NM_003978.5(PSTPIP1):c.642+14G>A
NM_003978.5(PSTPIP1):c.642+18_642+19del
NM_003978.5(PSTPIP1):c.643-19T>A
NM_003978.5(PSTPIP1):c.645C>T (p.Ala215=)
NM_003978.5(PSTPIP1):c.654G>T (p.Leu218=) rs2152688153
NM_003978.5(PSTPIP1):c.657A>G (p.Gln219=) rs139362350
NM_003978.5(PSTPIP1):c.667C>T (p.Arg223Trp) rs574957138
NM_003978.5(PSTPIP1):c.675C>A (p.Thr225=) rs770958110
NM_003978.5(PSTPIP1):c.676A>G (p.Ile226Val) rs2076408341
NM_003978.5(PSTPIP1):c.679C>T (p.Leu227Phe)
NM_003978.5(PSTPIP1):c.680T>C (p.Leu227Pro)
NM_003978.5(PSTPIP1):c.683G>T (p.Arg228Leu) rs1386762740
NM_003978.5(PSTPIP1):c.684C>T (p.Arg228=) rs2076408513
NM_003978.5(PSTPIP1):c.688G>A (p.Ala230Thr) rs121908130
NM_003978.5(PSTPIP1):c.690C>T (p.Ala230=)
NM_003978.5(PSTPIP1):c.700C>T (p.His234Tyr)
NM_003978.5(PSTPIP1):c.708C>A (p.Asn236Lys) rs768887430
NM_003978.5(PSTPIP1):c.709C>A (p.Gln237Lys)
NM_003978.5(PSTPIP1):c.714C>A (p.Leu238=)
NM_003978.5(PSTPIP1):c.718A>C (p.Met240Leu) rs1350794252
NM_003978.5(PSTPIP1):c.741+11A>C rs2152688261
NM_003978.5(PSTPIP1):c.741+12G>A rs370307155
NM_003978.5(PSTPIP1):c.741+12G>C
NM_003978.5(PSTPIP1):c.741+15C>T
NM_003978.5(PSTPIP1):c.742-14C>T
NM_003978.5(PSTPIP1):c.742-3C>T
NM_003978.5(PSTPIP1):c.742-6C>T
NM_003978.5(PSTPIP1):c.748G>A (p.Glu250Lys) rs28939089
NM_003978.5(PSTPIP1):c.748G>C (p.Glu250Gln) rs28939089
NM_003978.5(PSTPIP1):c.74T>C (p.Leu25Pro)
NM_003978.5(PSTPIP1):c.755T>C (p.Val252Ala) rs970904080
NM_003978.5(PSTPIP1):c.757C>T (p.Arg253Trp) rs375155007
NM_003978.5(PSTPIP1):c.768G>T (p.Leu256=) rs2152689079
NM_003978.5(PSTPIP1):c.770A>G (p.Glu257Gly) rs2152689087
NM_003978.5(PSTPIP1):c.778A>G (p.Ser260Gly)
NM_003978.5(PSTPIP1):c.787G>A (p.Ala263Thr)
NM_003978.5(PSTPIP1):c.790G>A (p.Asp264Asn)
NM_003978.5(PSTPIP1):c.793A>G (p.Ile265Val) rs1266616711
NM_003978.5(PSTPIP1):c.796G>A (p.Asp266Asn) rs104895418
NM_003978.5(PSTPIP1):c.797A>C (p.Asp266Ala)
NM_003978.5(PSTPIP1):c.798C>T (p.Asp266=)
NM_003978.5(PSTPIP1):c.806T>A (p.Ile269Asn) rs770215969
NM_003978.5(PSTPIP1):c.815A>G (p.Lys272Arg) rs767248102
NM_003978.5(PSTPIP1):c.821C>T (p.Thr274Met) rs2076440871
NM_003978.5(PSTPIP1):c.822G>A (p.Thr274=) rs760300353
NM_003978.5(PSTPIP1):c.822G>C (p.Thr274=)
NM_003978.5(PSTPIP1):c.825C>T (p.Gly275=) rs1596127270
NM_003978.5(PSTPIP1):c.82C>A (p.Arg28=) rs767330325
NM_003978.5(PSTPIP1):c.837C>A (p.Pro279=) rs149195362
NM_003978.5(PSTPIP1):c.837C>G (p.Pro279=) rs149195362
NM_003978.5(PSTPIP1):c.837C>T (p.Pro279=) rs149195362
NM_003978.5(PSTPIP1):c.838+17G>A
NM_003978.5(PSTPIP1):c.838+20C>G
NM_003978.5(PSTPIP1):c.838+6G>T
NM_003978.5(PSTPIP1):c.838G>T (p.Ala280Ser)
NM_003978.5(PSTPIP1):c.839-12dup rs759640462
NM_003978.5(PSTPIP1):c.839-17C>A rs770543515
NM_003978.5(PSTPIP1):c.839-19C>A
NM_003978.5(PSTPIP1):c.839-1G>T rs2076455169
NM_003978.5(PSTPIP1):c.839-2A>G
NM_003978.5(PSTPIP1):c.839-8G>T
NM_003978.5(PSTPIP1):c.842C>T (p.Pro281Leu)
NM_003978.5(PSTPIP1):c.843G>A (p.Pro281=)
NM_003978.5(PSTPIP1):c.846G>A (p.Val282=) rs1596129223
NM_003978.5(PSTPIP1):c.852C>T (p.Tyr284=) rs1324002708
NM_003978.5(PSTPIP1):c.854_879del (p.Gln285fs) rs2152689594
NM_003978.5(PSTPIP1):c.864C>A (p.Tyr288Ter)
NM_003978.5(PSTPIP1):c.865G>A (p.Asp289Asn)
NM_003978.5(PSTPIP1):c.868C>T (p.Arg290Trp)
NM_003978.5(PSTPIP1):c.869G>A (p.Arg290Gln) rs761580488
NM_003978.5(PSTPIP1):c.869G>T (p.Arg290Leu) rs761580488
NM_003978.5(PSTPIP1):c.874G>T (p.Val292Phe)
NM_003978.5(PSTPIP1):c.875T>C (p.Val292Ala)
NM_003978.5(PSTPIP1):c.905A>G (p.Gln302Arg)
NM_003978.5(PSTPIP1):c.909G>A (p.Pro303=)
NM_003978.5(PSTPIP1):c.914G>C (p.Cys305Ser)
NM_003978.5(PSTPIP1):c.916G>A (p.Gly306Ser) rs374204996
NM_003978.5(PSTPIP1):c.929+11G>A rs753081335
NM_003978.5(PSTPIP1):c.929+11G>C
NM_003978.5(PSTPIP1):c.929+13C>G
NM_003978.5(PSTPIP1):c.929+14A>T
NM_003978.5(PSTPIP1):c.929+9C>G rs1284155822
NM_003978.5(PSTPIP1):c.930-10_930-9del
NM_003978.5(PSTPIP1):c.947A>G (p.His316Arg)
NM_003978.5(PSTPIP1):c.94G>A (p.Gly32Ser)
NM_003978.5(PSTPIP1):c.951_954dup (p.Pro319fs)
NM_003978.5(PSTPIP1):c.957C>G (p.Pro319=) rs2076539978
NM_003978.5(PSTPIP1):c.960G>A (p.Lys320=) rs2152691719
NM_003978.5(PSTPIP1):c.962C>T (p.Thr321Ile)
NM_003978.5(PSTPIP1):c.969G>A (p.Ser323=)
NM_003978.5(PSTPIP1):c.969G>T (p.Ser323=)
NM_003978.5(PSTPIP1):c.985+10dup rs2152691746
NM_003978.5(PSTPIP1):c.985+12C>G
NM_003978.5(PSTPIP1):c.985+16A>C
NM_003978.5(PSTPIP1):c.985+16_985+18del rs2152691755
NM_003978.5(PSTPIP1):c.985+6G>A
NM_003978.5(PSTPIP1):c.985+7G>A
NM_003978.5(PSTPIP1):c.986-12C>T rs2152691941
NM_003978.5(PSTPIP1):c.986-5C>T
NM_003978.5(PSTPIP1):c.987G>C (p.Ala329=) rs750823506
NM_003978.5(PSTPIP1):c.993A>G (p.Thr331=)
NM_003978.5(PSTPIP1):c.995A>T (p.Glu332Val)

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