|
NM_003978.5(PSTPIP1):c.838+145A>G
|
rs4078354
|
0.59602
|
|
NM_003978.5(PSTPIP1):c.915C>T (p.Cys305=)
|
rs11858480
|
0.04154
|
|
NM_003978.5(PSTPIP1):c.137+28C>T
|
rs79438763
|
0.02640
|
|
NM_003978.5(PSTPIP1):c.838+40T>C
|
rs77968440
|
0.01919
|
|
NM_003978.5(PSTPIP1):c.*51G>A
|
rs117378779
|
0.01876
|
|
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.741+32_741+33dup
|
rs104895417
|
0.00363
|
|
NM_003978.5(PSTPIP1):c.1112C>T (p.Thr371Ile)
|
rs34908107
|
0.00355
|
|
NM_003978.5(PSTPIP1):c.*38T>C
|
rs201535027
|
0.00346
|
|
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.*145C>T
|
rs965236443
|
0.00031
|
|
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.*121C>T
|
rs566906535
|
0.00014
|
|
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.*122G>A
|
rs527679453
|
0.00011
|
|
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.-117C>T
|
rs147120980
|
0.00008
|
|
NM_003978.5(PSTPIP1):c.-124C>T
|
rs760819203
|
0.00008
|
|
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.-123G>A
|
rs771172891
|
0.00005
|
|
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.-120G>A
|
rs759583926
|
0.00004
|
|
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.36+10610A>G
|
rs2075813588
|
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.475G>C (p.Glu159Gln)
|
rs886051493
|
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.739G>A (p.Glu247Lys)
|
rs1283948312
|
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.(?_74219125)_(77329517_?)del
|
|
|
|
NC_000015.9:g.(?_77287895)_(77329537_?)dup
|
|
|
|
NC_000015.9:g.(?_77287915)_(77287970_?)dup
|
|
|
|
NC_000015.9:g.(?_77287915)_(77310892_?)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.(?_77317605)_(77317965_?)del
|
|
|
|
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.*123T>C
|
rs886051494
|
|
|
NM_003978.5(PSTPIP1):c.*156_*158del
|
rs147238110
|
|
|
NM_003978.5(PSTPIP1):c.*93C>T
|
rs554408944
|
|
|
NM_003978.5(PSTPIP1):c.*98C>G
|
rs1264249832
|
|
|
NM_003978.5(PSTPIP1):c.-171A>T
|
rs546291000
|
|
|
NM_003978.5(PSTPIP1):c.-280GCTGG[3]
|
rs886051491
|
|
|
NM_003978.5(PSTPIP1):c.-367G>A
|
rs886051490
|
|
|
NM_003978.5(PSTPIP1):c.-421CCTG[6]
|
rs55909412
|
|
|
NM_003978.5(PSTPIP1):c.-421CCTG[8]
|
rs55909412
|
|
|
NM_003978.5(PSTPIP1):c.-436G>A
|
rs548828496
|
|
|
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.1079C>T (p.Pro360Leu)
|
rs768897476
|
|
|
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.1226C>T (p.Pro409Leu)
|
|
|
|
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.1243A>C (p.Lys415Gln)
|
rs2076601376
|
|
|
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+47G>C
|
rs3812911
|
|
|
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.355-4G>A
|
rs1596111331
|
|
|
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.38_39delinsTT (p.Cys13Phe)
|
rs2152678700
|
|
|
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.438G>A (p.Gln146=)
|
rs1141041
|
|
|
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.669del (p.Arg223_Leu224insTer)
|
rs1596123288
|
|
|
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+45C>G
|
rs116895455
|
|
|
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+8C>T
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NM_003978.5(PSTPIP1):c.930-10_930-9del
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NM_003978.5(PSTPIP1):c.947A>G (p.His316Arg)
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NM_003978.5(PSTPIP1):c.94G>A (p.Gly32Ser)
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NM_003978.5(PSTPIP1):c.951_954dup (p.Pro319fs)
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NM_003978.5(PSTPIP1):c.957C>G (p.Pro319=)
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rs2076539978
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NM_003978.5(PSTPIP1):c.960G>A (p.Lys320=)
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rs2152691719
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NM_003978.5(PSTPIP1):c.962C>T (p.Thr321Ile)
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NM_003978.5(PSTPIP1):c.969G>A (p.Ser323=)
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NM_003978.5(PSTPIP1):c.969G>T (p.Ser323=)
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NM_003978.5(PSTPIP1):c.985+10dup
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rs2152691746
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NM_003978.5(PSTPIP1):c.985+12C>G
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NM_003978.5(PSTPIP1):c.985+16A>C
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NM_003978.5(PSTPIP1):c.985+16_985+18del
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rs2152691755
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NM_003978.5(PSTPIP1):c.985+6G>A
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NM_003978.5(PSTPIP1):c.985+7G>A
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NM_003978.5(PSTPIP1):c.986-12C>T
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rs2152691941
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NM_003978.5(PSTPIP1):c.986-33dup
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rs11373069
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NM_003978.5(PSTPIP1):c.986-5C>T
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NM_003978.5(PSTPIP1):c.987G>C (p.Ala329=)
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rs750823506
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NM_003978.5(PSTPIP1):c.993A>G (p.Thr331=)
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NM_003978.5(PSTPIP1):c.995A>T (p.Glu332Val)
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