NM_001077350.3(NPRL3):c.1351+75T>C
|
rs2239299
|
0.98102
|
NM_001077350.3(NPRL3):c.548-64A>G
|
rs808892
|
0.87694
|
NM_001077350.3(NPRL3):c.1032-102A>G
|
rs2541618
|
0.84201
|
NM_001077350.3(NPRL3):c.768-53C>T
|
rs2541616
|
0.82761
|
NM_001077350.3(NPRL3):c.1041G>A (p.Pro347=)
|
rs1128426
|
0.02170
|
NM_001077350.3(NPRL3):c.550A>C (p.Asn184His)
|
rs73478320
|
0.01540
|
NM_001077350.3(NPRL3):c.180C>T (p.Gly60=)
|
rs75187722
|
0.01456
|
NM_001077350.3(NPRL3):c.1486G>A (p.Ala496Thr)
|
rs58036849
|
0.01129
|
NM_001077350.3(NPRL3):c.1544+18C>T
|
rs147148279
|
0.00424
|
NM_001077350.3(NPRL3):c.534C>T (p.Ser178=)
|
rs140092767
|
0.00419
|
NM_001077350.3(NPRL3):c.629+9G>C
|
rs142080016
|
0.00290
|
NM_001077350.3(NPRL3):c.1024G>T (p.Val342Leu)
|
rs11558704
|
0.00258
|
NM_001077350.3(NPRL3):c.447C>T (p.Ile149=)
|
rs367592989
|
0.00156
|
NM_001077350.3(NPRL3):c.1351+19C>T
|
rs372572343
|
0.00146
|
NM_001077350.3(NPRL3):c.652C>T (p.Arg218Trp)
|
rs201957188
|
0.00141
|
NM_001077350.3(NPRL3):c.1516A>T (p.Asn506Tyr)
|
rs202015937
|
0.00086
|
NM_001077350.3(NPRL3):c.189-15C>G
|
rs183021938
|
0.00061
|
NM_001077350.3(NPRL3):c.1268C>T (p.Pro423Leu)
|
rs200792895
|
0.00031
|
NM_001077350.3(NPRL3):c.442C>T (p.Arg148Cys)
|
rs201069648
|
0.00029
|
NM_001077350.3(NPRL3):c.119-13C>T
|
rs370419688
|
0.00028
|
NM_001077350.3(NPRL3):c.1351+7C>T
|
rs376215928
|
0.00027
|
NM_001077350.3(NPRL3):c.630-9T>C
|
rs374656133
|
0.00027
|
NM_001077350.3(NPRL3):c.745G>A (p.Glu249Lys)
|
rs200041907
|
0.00026
|
NM_001077350.3(NPRL3):c.118+11G>A
|
rs368365304
|
0.00021
|
NM_001077350.3(NPRL3):c.1544+20T>C
|
rs376979785
|
0.00021
|
NM_001077350.3(NPRL3):c.767+19G>A
|
rs112754051
|
0.00020
|
NM_001077350.3(NPRL3):c.1107C>T (p.Ser369=)
|
rs572375358
|
0.00019
|
NM_001077350.3(NPRL3):c.1356C>T (p.Ser452=)
|
rs373792025
|
0.00016
|
NM_001077350.3(NPRL3):c.1197G>A (p.Gln399=)
|
rs369473961
|
0.00014
|
NM_001077350.3(NPRL3):c.251T>G (p.Phe84Cys)
|
rs560167568
|
0.00014
|
NM_001077350.3(NPRL3):c.394-13C>G
|
rs376971014
|
0.00014
|
NM_001077350.3(NPRL3):c.597G>C (p.Lys199Asn)
|
rs186859701
|
0.00014
|
NM_001077350.3(NPRL3):c.188+13C>T
|
rs373318523
|
0.00012
|
NM_001077350.3(NPRL3):c.225C>G (p.Thr75=)
|
rs372639365
|
0.00012
|
NM_001077350.3(NPRL3):c.439C>T (p.Arg147Cys)
|
rs202129021
|
0.00012
|
NM_001077350.3(NPRL3):c.997G>A (p.Val333Ile)
|
rs367664536
|
0.00012
|
NM_001077350.3(NPRL3):c.1192C>T (p.Leu398=)
|
rs575256508
|
0.00011
|
NM_001077350.3(NPRL3):c.14C>T (p.Thr5Ile)
|
rs776554504
|
0.00011
|
NM_001077350.3(NPRL3):c.318+8T>G
|
rs370788298
|
0.00010
|
NM_001077350.3(NPRL3):c.1162-5C>T
|
rs768868339
|
0.00009
|
NM_001077350.3(NPRL3):c.1297C>T (p.Arg433Trp)
|
rs372094629
|
0.00009
|
NM_001077350.3(NPRL3):c.156C>T (p.Gly52=)
|
rs369462371
|
0.00009
|
NM_001077350.3(NPRL3):c.1329C>T (p.Asn443=)
|
rs559760517
|
0.00008
|
NM_001077350.3(NPRL3):c.768-15G>A
|
rs189005933
|
0.00008
|
NM_001077350.3(NPRL3):c.119-8C>T
|
rs536194590
|
0.00007
|
NM_001077350.3(NPRL3):c.1251C>T (p.Ser417=)
|
rs534585670
|
0.00007
|
NM_001077350.3(NPRL3):c.1419C>T (p.Ser473=)
|
rs571533880
|
0.00007
|
NM_001077350.3(NPRL3):c.275G>A (p.Arg92Gln)
|
rs367729589
|
0.00007
|
NM_001077350.3(NPRL3):c.399C>T (p.Asn133=)
|
rs748812702
|
0.00007
|
NM_001077350.3(NPRL3):c.548-10A>T
|
rs749419450
|
0.00007
|
NM_001077350.3(NPRL3):c.1086G>A (p.Pro362=)
|
rs762516395
|
0.00006
|
NM_001077350.3(NPRL3):c.1298G>A (p.Arg433Gln)
|
rs781225056
|
0.00006
|
NM_001077350.3(NPRL3):c.1402G>A (p.Ala468Thr)
|
rs752246132
|
0.00006
|
NM_001077350.3(NPRL3):c.1420G>A (p.Gly474Arg)
|
rs374687256
|
0.00006
|
NM_001077350.3(NPRL3):c.188+14G>A
|
rs368999536
|
0.00006
|
NM_001077350.3(NPRL3):c.466G>A (p.Glu156Lys)
|
rs374060440
|
0.00006
|
NM_001077350.3(NPRL3):c.630-19C>G
|
rs753781901
|
0.00006
|
NM_001077350.3(NPRL3):c.653G>A (p.Arg218Gln)
|
rs201341279
|
0.00006
|
NM_001077350.3(NPRL3):c.951G>A (p.Val317=)
|
rs747655659
|
0.00006
|
NM_001077350.3(NPRL3):c.1085C>T (p.Pro362Leu)
|
rs763923760
|
0.00005
|
NM_001077350.3(NPRL3):c.1149C>T (p.Pro383=)
|
rs577949063
|
0.00005
|
NM_001077350.3(NPRL3):c.1162-2A>G
|
rs756257487
|
0.00005
|
NM_001077350.3(NPRL3):c.118+7G>A
|
rs753617978
|
0.00005
|
NM_001077350.3(NPRL3):c.1226A>G (p.Tyr409Cys)
|
rs775053528
|
0.00005
|
NM_001077350.3(NPRL3):c.1252G>A (p.Glu418Lys)
|
rs547498080
|
0.00005
|
NM_001077350.3(NPRL3):c.629+16G>C
|
rs148320642
|
0.00005
|
NM_001077350.3(NPRL3):c.924+14G>A
|
rs754657607
|
0.00005
|
NM_001077350.3(NPRL3):c.1089C>T (p.Ser363=)
|
rs774948028
|
0.00004
|
NM_001077350.3(NPRL3):c.1212C>A (p.Ile404=)
|
rs772565196
|
0.00004
|
NM_001077350.3(NPRL3):c.1281C>T (p.Asp427=)
|
rs376125073
|
0.00004
|
NM_001077350.3(NPRL3):c.1302C>T (p.Val434=)
|
rs570086678
|
0.00004
|
NM_001077350.3(NPRL3):c.1309C>T (p.Arg437Cys)
|
rs530150587
|
0.00004
|
NM_001077350.3(NPRL3):c.1449G>A (p.Thr483=)
|
rs376164029
|
0.00004
|
NM_001077350.3(NPRL3):c.1485C>T (p.Arg495=)
|
rs767665276
|
0.00004
|
NM_001077350.3(NPRL3):c.286C>T (p.His96Tyr)
|
rs374486402
|
0.00004
|
NM_001077350.3(NPRL3):c.393+19G>C
|
rs376254663
|
0.00004
|
NM_001077350.3(NPRL3):c.489C>A (p.Leu163=)
|
rs376237512
|
0.00004
|
NM_001077350.3(NPRL3):c.515C>T (p.Ala172Val)
|
rs778177582
|
0.00004
|
NM_001077350.3(NPRL3):c.547+16C>T
|
rs373390759
|
0.00004
|
NM_001077350.3(NPRL3):c.636C>G (p.Cys212Trp)
|
rs769173039
|
0.00004
|
NM_001077350.3(NPRL3):c.64C>T (p.Leu22=)
|
rs747813822
|
0.00004
|
NM_001077350.3(NPRL3):c.924+7C>G
|
rs778499898
|
0.00004
|
NM_001077350.3(NPRL3):c.943C>T (p.His315Tyr)
|
rs772044858
|
0.00004
|
NM_001077350.3(NPRL3):c.996C>T (p.Asn332=)
|
rs368729384
|
0.00004
|
NM_001077350.3(NPRL3):c.1047C>T (p.Ala349=)
|
rs373353333
|
0.00003
|
NM_001077350.3(NPRL3):c.1113G>C (p.Pro371=)
|
rs148130584
|
0.00003
|
NM_001077350.3(NPRL3):c.1145C>T (p.Ala382Val)
|
rs375562061
|
0.00003
|
NM_001077350.3(NPRL3):c.1162-4G>A
|
rs539175375
|
0.00003
|
NM_001077350.3(NPRL3):c.1202G>A (p.Arg401Gln)
|
rs868451771
|
0.00003
|
NM_001077350.3(NPRL3):c.125C>T (p.Pro42Leu)
|
rs762676113
|
0.00003
|
NM_001077350.3(NPRL3):c.1264C>T (p.Arg422Cys)
|
rs753763592
|
0.00003
|
NM_001077350.3(NPRL3):c.1305C>T (p.Gly435=)
|
rs755635095
|
0.00003
|
NM_001077350.3(NPRL3):c.1401C>T (p.Ser467=)
|
rs758047816
|
0.00003
|
NM_001077350.3(NPRL3):c.181G>A (p.Asp61Asn)
|
rs748391280
|
0.00003
|
NM_001077350.3(NPRL3):c.408G>A (p.Pro136=)
|
rs757635247
|
0.00003
|
NM_001077350.3(NPRL3):c.547+9A>C
|
rs370796954
|
0.00003
|
NM_001077350.3(NPRL3):c.563A>G (p.Gln188Arg)
|
rs191687929
|
0.00003
|
NM_001077350.3(NPRL3):c.639G>A (p.Thr213=)
|
rs770198792
|
0.00003
|
NM_001077350.3(NPRL3):c.641C>T (p.Ser214Leu)
|
rs556232826
|
0.00003
|
NM_001077350.3(NPRL3):c.696C>T (p.Pro232=)
|
rs368272925
|
0.00003
|
NM_001077350.3(NPRL3):c.767+6T>C
|
rs745822946
|
0.00003
|
NM_001077350.3(NPRL3):c.919C>T (p.Leu307=)
|
rs549291288
|
0.00003
|
NM_001077350.3(NPRL3):c.1032-8G>A
|
rs370350676
|
0.00002
|
NM_001077350.3(NPRL3):c.1048G>A (p.Glu350Lys)
|
rs761443880
|
0.00002
|
NM_001077350.3(NPRL3):c.1162-1G>C
|
rs751418986
|
0.00002
|
NM_001077350.3(NPRL3):c.119-18C>T
|
rs1452152293
|
0.00002
|
NM_001077350.3(NPRL3):c.1199G>A (p.Arg400His)
|
rs535478389
|
0.00002
|
NM_001077350.3(NPRL3):c.1265G>A (p.Arg422His)
|
rs765841003
|
0.00002
|
NM_001077350.3(NPRL3):c.127C>T (p.Arg43Cys)
|
rs770318147
|
0.00002
|
NM_001077350.3(NPRL3):c.1282G>A (p.Val428Ile)
|
rs771113936
|
0.00002
|
NM_001077350.3(NPRL3):c.1306G>A (p.Gly436Ser)
|
rs548390527
|
0.00002
|
NM_001077350.3(NPRL3):c.1323G>A (p.Thr441=)
|
rs770952322
|
0.00002
|
NM_001077350.3(NPRL3):c.1330G>A (p.Ala444Thr)
|
rs368198378
|
0.00002
|
NM_001077350.3(NPRL3):c.1448C>T (p.Thr483Met)
|
rs1055200832
|
0.00002
|
NM_001077350.3(NPRL3):c.1484G>A (p.Arg495His)
|
rs750844568
|
0.00002
|
NM_001077350.3(NPRL3):c.1531C>T (p.Arg511Cys)
|
rs747602641
|
0.00002
|
NM_001077350.3(NPRL3):c.318+3A>T
|
rs746765533
|
0.00002
|
NM_001077350.3(NPRL3):c.428A>G (p.His143Arg)
|
rs959374963
|
0.00002
|
NM_001077350.3(NPRL3):c.432C>T (p.Asn144=)
|
rs371406653
|
0.00002
|
NM_001077350.3(NPRL3):c.470A>G (p.Glu157Gly)
|
rs762922931
|
0.00002
|
NM_001077350.3(NPRL3):c.5G>C (p.Arg2Pro)
|
rs752487586
|
0.00002
|
NM_001077350.3(NPRL3):c.645C>T (p.Gly215=)
|
rs770998374
|
0.00002
|
NM_001077350.3(NPRL3):c.735A>C (p.Pro245=)
|
rs775687534
|
0.00002
|
NM_001077350.3(NPRL3):c.755T>C (p.Leu252Pro)
|
rs747035776
|
0.00002
|
NM_001077350.3(NPRL3):c.769C>G (p.Pro257Ala)
|
rs746568841
|
0.00002
|
NM_001077350.3(NPRL3):c.88A>C (p.Arg30=)
|
rs542337990
|
0.00002
|
NM_001077350.3(NPRL3):c.905C>T (p.Ala302Val)
|
rs777790535
|
0.00002
|
NM_001077350.3(NPRL3):c.958G>A (p.Gly320Ser)
|
rs375417903
|
0.00002
|
NM_001077350.3(NPRL3):c.1023C>T (p.Ser341=)
|
rs781712669
|
0.00001
|
NM_001077350.3(NPRL3):c.1031+10G>A
|
rs554242910
|
0.00001
|
NM_001077350.3(NPRL3):c.1032G>A (p.Leu344=)
|
rs745938544
|
0.00001
|
NM_001077350.3(NPRL3):c.1039C>T (p.Pro347Ser)
|
rs765599501
|
0.00001
|
NM_001077350.3(NPRL3):c.1073C>T (p.Ser358Phe)
|
rs1039004556
|
0.00001
|
NM_001077350.3(NPRL3):c.1090G>A (p.Val364Ile)
|
rs769246932
|
0.00001
|
NM_001077350.3(NPRL3):c.1100A>G (p.Lys367Arg)
|
rs776081581
|
0.00001
|
NM_001077350.3(NPRL3):c.1112C>T (p.Pro371Leu)
|
rs747324879
|
0.00001
|
NM_001077350.3(NPRL3):c.1128A>G (p.Glu376=)
|
rs779153012
|
0.00001
|
NM_001077350.3(NPRL3):c.1150G>A (p.Ala384Thr)
|
rs751307143
|
0.00001
|
NM_001077350.3(NPRL3):c.1162-19C>T
|
rs973832371
|
0.00001
|
NM_001077350.3(NPRL3):c.1165C>A (p.Gln389Lys)
|
rs1331117963
|
0.00001
|
NM_001077350.3(NPRL3):c.1170C>T (p.Leu390=)
|
rs752646070
|
0.00001
|
NM_001077350.3(NPRL3):c.117A>G (p.Thr39=)
|
rs764156867
|
0.00001
|
NM_001077350.3(NPRL3):c.118+15G>C
|
rs1380711428
|
0.00001
|
NM_001077350.3(NPRL3):c.118+9G>A
|
rs766369663
|
0.00001
|
NM_001077350.3(NPRL3):c.118A>G (p.Ser40Gly)
|
rs1901205892
|
0.00001
|
NM_001077350.3(NPRL3):c.119-4T>C
|
rs1432084309
|
0.00001
|
NM_001077350.3(NPRL3):c.119-9C>T
|
rs1291323858
|
0.00001
|
NM_001077350.3(NPRL3):c.1198C>T (p.Arg400Cys)
|
rs556683821
|
0.00001
|
NM_001077350.3(NPRL3):c.1201C>T (p.Arg401Trp)
|
rs375530015
|
0.00001
|
NM_001077350.3(NPRL3):c.1204C>T (p.Leu402Phe)
|
rs899497821
|
0.00001
|
NM_001077350.3(NPRL3):c.1215G>C (p.Gln405His)
|
rs1426917813
|
0.00001
|
NM_001077350.3(NPRL3):c.1243T>C (p.Ser415Pro)
|
rs546525405
|
0.00001
|
NM_001077350.3(NPRL3):c.1247C>T (p.Pro416Leu)
|
rs746082270
|
0.00001
|
NM_001077350.3(NPRL3):c.1269G>A (p.Pro423=)
|
rs762331419
|
0.00001
|
NM_001077350.3(NPRL3):c.126G>A (p.Pro42=)
|
rs370587053
|
0.00001
|
NM_001077350.3(NPRL3):c.1270C>T (p.Arg424Ter)
|
rs886037961
|
0.00001
|
NM_001077350.3(NPRL3):c.1279G>A (p.Asp427Asn)
|
rs769778379
|
0.00001
|
NM_001077350.3(NPRL3):c.1313G>A (p.Ser438Asn)
|
rs529009740
|
0.00001
|
NM_001077350.3(NPRL3):c.1315C>T (p.Leu439Phe)
|
rs763320453
|
0.00001
|
NM_001077350.3(NPRL3):c.1324C>T (p.Pro442Ser)
|
rs868572770
|
0.00001
|
NM_001077350.3(NPRL3):c.1348C>T (p.Pro450Ser)
|
rs941137627
|
0.00001
|
NM_001077350.3(NPRL3):c.1351+20G>A
|
rs1474643956
|
0.00001
|
NM_001077350.3(NPRL3):c.1352-14C>G
|
rs772331175
|
0.00001
|
NM_001077350.3(NPRL3):c.1352-15C>T
|
rs1017477594
|
0.00001
|
NM_001077350.3(NPRL3):c.1352-9C>A
|
rs539074617
|
0.00001
|
NM_001077350.3(NPRL3):c.138C>T (p.Tyr46=)
|
rs1021001959
|
0.00001
|
NM_001077350.3(NPRL3):c.139G>A (p.Ala47Thr)
|
rs1401901852
|
0.00001
|
NM_001077350.3(NPRL3):c.1427C>T (p.Ser476Leu)
|
rs750482582
|
0.00001
|
NM_001077350.3(NPRL3):c.1428G>A (p.Ser476=)
|
rs370803087
|
0.00001
|
NM_001077350.3(NPRL3):c.1443G>T (p.Arg481Ser)
|
rs1898620865
|
0.00001
|
NM_001077350.3(NPRL3):c.147C>T (p.Ser49=)
|
rs1157537547
|
0.00001
|
NM_001077350.3(NPRL3):c.1483C>T (p.Arg495Cys)
|
rs756589112
|
0.00001
|
NM_001077350.3(NPRL3):c.1500T>C (p.Ser500=)
|
rs1253562574
|
0.00001
|
NM_001077350.3(NPRL3):c.1506C>T (p.Pro502=)
|
rs776547593
|
0.00001
|
NM_001077350.3(NPRL3):c.1507G>A (p.Ala503Thr)
|
rs372717858
|
0.00001
|
NM_001077350.3(NPRL3):c.152C>T (p.Thr51Met)
|
rs777208794
|
0.00001
|
NM_001077350.3(NPRL3):c.1532G>A (p.Arg511His)
|
rs375305549
|
0.00001
|
NM_001077350.3(NPRL3):c.1534A>G (p.Met512Val)
|
rs768263296
|
0.00001
|
NM_001077350.3(NPRL3):c.1539T>C (p.Phe513=)
|
rs749698102
|
0.00001
|
NM_001077350.3(NPRL3):c.153G>A (p.Thr51=)
|
rs771331057
|
0.00001
|
NM_001077350.3(NPRL3):c.1544+12T>C
|
rs746389609
|
0.00001
|
NM_001077350.3(NPRL3):c.1544+19G>A
|
rs758718371
|
0.00001
|
NM_001077350.3(NPRL3):c.164C>G (p.Ala55Gly)
|
rs1217583836
|
0.00001
|
NM_001077350.3(NPRL3):c.177C>T (p.Asp59=)
|
rs1048069050
|
0.00001
|
NM_001077350.3(NPRL3):c.17G>A (p.Ser6Asn)
|
rs1901212695
|
0.00001
|
NM_001077350.3(NPRL3):c.198T>C (p.Asp66=)
|
rs1900183713
|
0.00001
|
NM_001077350.3(NPRL3):c.20C>T (p.Pro7Leu)
|
rs770799124
|
0.00001
|
NM_001077350.3(NPRL3):c.217T>G (p.Leu73Val)
|
rs1900182866
|
0.00001
|
NM_001077350.3(NPRL3):c.273G>A (p.Val91=)
|
rs1427607213
|
0.00001
|
NM_001077350.3(NPRL3):c.30G>C (p.Val10=)
|
rs772703167
|
0.00001
|
NM_001077350.3(NPRL3):c.319-4A>G
|
rs1033435405
|
0.00001
|
NM_001077350.3(NPRL3):c.341C>T (p.Pro114Leu)
|
rs979345384
|
0.00001
|
NM_001077350.3(NPRL3):c.342G>A (p.Pro114=)
|
rs368936546
|
0.00001
|
NM_001077350.3(NPRL3):c.400G>A (p.Ala134Thr)
|
rs779581743
|
0.00001
|
NM_001077350.3(NPRL3):c.407C>T (p.Pro136Leu)
|
rs547462000
|
0.00001
|
NM_001077350.3(NPRL3):c.411A>G (p.Ser137=)
|
rs752160458
|
0.00001
|
NM_001077350.3(NPRL3):c.454G>A (p.Val152Met)
|
rs539649449
|
0.00001
|
NM_001077350.3(NPRL3):c.473G>A (p.Arg158His)
|
rs1215682749
|
0.00001
|
NM_001077350.3(NPRL3):c.475C>T (p.Arg159Cys)
|
rs769300436
|
0.00001
|
NM_001077350.3(NPRL3):c.476G>A (p.Arg159His)
|
rs370299128
|
0.00001
|
NM_001077350.3(NPRL3):c.52A>C (p.Arg18=)
|
rs1218964632
|
0.00001
|
NM_001077350.3(NPRL3):c.535G>A (p.Ala179Thr)
|
rs755120736
|
0.00001
|
NM_001077350.3(NPRL3):c.548-16G>A
|
rs369053251
|
0.00001
|
NM_001077350.3(NPRL3):c.548-6T>C
|
rs780258721
|
0.00001
|
NM_001077350.3(NPRL3):c.579C>T (p.His193=)
|
rs777493106
|
0.00001
|
NM_001077350.3(NPRL3):c.638C>T (p.Thr213Met)
|
rs776199294
|
0.00001
|
NM_001077350.3(NPRL3):c.642G>A (p.Ser214=)
|
rs368182847
|
0.00001
|
NM_001077350.3(NPRL3):c.713C>T (p.Ala238Val)
|
rs761366554
|
0.00001
|
NM_001077350.3(NPRL3):c.714G>A (p.Ala238=)
|
rs751260495
|
0.00001
|
NM_001077350.3(NPRL3):c.722G>C (p.Ser241Thr)
|
rs1899228613
|
0.00001
|
NM_001077350.3(NPRL3):c.732C>T (p.Pro244=)
|
rs1196165192
|
0.00001
|
NM_001077350.3(NPRL3):c.734C>A (p.Pro245Gln)
|
rs763479734
|
0.00001
|
NM_001077350.3(NPRL3):c.748C>T (p.Arg250Trp)
|
rs577935445
|
0.00001
|
NM_001077350.3(NPRL3):c.752G>A (p.Ser251Asn)
|
rs916257624
|
0.00001
|
NM_001077350.3(NPRL3):c.756G>A (p.Leu252=)
|
rs554325689
|
0.00001
|
NM_001077350.3(NPRL3):c.811C>G (p.Leu271Val)
|
rs984688777
|
0.00001
|
NM_001077350.3(NPRL3):c.826A>G (p.Ile276Val)
|
rs764890667
|
0.00001
|
NM_001077350.3(NPRL3):c.85C>A (p.Gln29Lys)
|
rs1021394339
|
0.00001
|
NM_001077350.3(NPRL3):c.861G>A (p.Lys287=)
|
rs767611082
|
0.00001
|
NM_001077350.3(NPRL3):c.906G>A (p.Ala302=)
|
rs771726316
|
0.00001
|
NM_001077350.3(NPRL3):c.946C>T (p.Leu316=)
|
rs1472693052
|
0.00001
|
NM_001077350.3(NPRL3):c.981G>A (p.Pro327=)
|
rs371414303
|
0.00001
|
NM_001077350.3(NPRL3):c.984G>A (p.Leu328=)
|
rs866882831
|
0.00001
|
NC_000016.10:g.(?_100352)_(100529_?)del
|
|
|
NC_000016.10:g.(?_130502)_(130611_?)del
|
|
|
NC_000016.10:g.(?_130502)_(138287_?)del
|
|
|
NC_000016.10:g.(?_98125)_(100529_?)del
|
|
|
NC_000016.10:g.92726del
|
rs2141908063
|
|
NC_000016.9:g.(?_167280)_(188286_?)dup
|
|
|
NC_000016.9:g.(?_180501)_(188286_?)dup
|
|
|
NC_000016.9:g.(?_188129)_(188286_?)dup
|
|
|
NM_001077350.3(NPRL3):c.1003A>T (p.Met335Leu)
|
rs1405349026
|
|
NM_001077350.3(NPRL3):c.1014C>T (p.Pro338=)
|
|
|
NM_001077350.3(NPRL3):c.1015A>G (p.Asn339Asp)
|
|
|
NM_001077350.3(NPRL3):c.1024G>A (p.Val342Ile)
|
rs11558704
|
|
NM_001077350.3(NPRL3):c.1024G>C (p.Val342Leu)
|
|
|
NM_001077350.3(NPRL3):c.1025dup (p.Cys343fs)
|
rs1898837245
|
|
NM_001077350.3(NPRL3):c.1031+2_1031+3del
|
rs2141909104
|
|
NM_001077350.3(NPRL3):c.1031+5G>A
|
|
|
NM_001077350.3(NPRL3):c.1031+7G>A
|
|
|
NM_001077350.3(NPRL3):c.1032-14T>C
|
|
|
NM_001077350.3(NPRL3):c.1032-20G>A
|
rs758612387
|
|
NM_001077350.3(NPRL3):c.1032-20G>T
|
|
|
NM_001077350.3(NPRL3):c.1032G>T (p.Leu344=)
|
|
|
NM_001077350.3(NPRL3):c.1034del (p.Tyr345fs)
|
|
|
NM_001077350.3(NPRL3):c.1040C>T (p.Pro347Leu)
|
|
|
NM_001077350.3(NPRL3):c.1045G>T (p.Ala349Ser)
|
rs1388346755
|
|
NM_001077350.3(NPRL3):c.1053G>C (p.Gln351His)
|
rs2141907979
|
|
NM_001077350.3(NPRL3):c.1062C>A (p.His354Gln)
|
rs1898813434
|
|
NM_001077350.3(NPRL3):c.1068C>G (p.Phe356Leu)
|
rs1229321872
|
|
NM_001077350.3(NPRL3):c.1070del (p.Pro357fs)
|
rs886037962
|
|
NM_001077350.3(NPRL3):c.1078del (p.Asp360fs)
|
|
|
NM_001077350.3(NPRL3):c.107C>T (p.Ala36Val)
|
|
|
NM_001077350.3(NPRL3):c.1092T>C (p.Val364=)
|
|
|
NM_001077350.3(NPRL3):c.1092T>G (p.Val364=)
|
|
|
NM_001077350.3(NPRL3):c.1093del (p.Ala366fs)
|
|
|
NM_001077350.3(NPRL3):c.1104C>T (p.Phe368=)
|
rs2141907858
|
|
NM_001077350.3(NPRL3):c.1106C>G (p.Ser369Cys)
|
rs1050077507
|
|
NM_001077350.3(NPRL3):c.1111_1122dup (p.Pro371_Leu374dup)
|
rs780621579
|
|
NM_001077350.3(NPRL3):c.1113G>A (p.Pro371=)
|
rs148130584
|
|
NM_001077350.3(NPRL3):c.1119C>A (p.Ser373=)
|
rs2141907799
|
|
NM_001077350.3(NPRL3):c.111C>T (p.Ser37=)
|
rs1555446496
|
|
NM_001077350.3(NPRL3):c.1120T>C (p.Leu374=)
|
|
|
NM_001077350.3(NPRL3):c.1121T>C (p.Leu374Ser)
|
|
|
NM_001077350.3(NPRL3):c.1140C>T (p.Pro380=)
|
|
|
NM_001077350.3(NPRL3):c.1143G>C (p.Leu381=)
|
rs1898808230
|
|
NM_001077350.3(NPRL3):c.1148C>G (p.Pro383Arg)
|
rs1898807635
|
|
NM_001077350.3(NPRL3):c.1149C>G (p.Pro383=)
|
rs577949063
|
|
NM_001077350.3(NPRL3):c.1153G>A (p.Val385Met)
|
rs1898807118
|
|
NM_001077350.3(NPRL3):c.1156C>G (p.Gln386Glu)
|
|
|
NM_001077350.3(NPRL3):c.1156C>T (p.Gln386Ter)
|
rs1371859768
|
|
NM_001077350.3(NPRL3):c.1159del (p.Glu387fs)
|
|
|
NM_001077350.3(NPRL3):c.1161+10A>C
|
rs2141907621
|
|
NM_001077350.3(NPRL3):c.1161+15C>A
|
|
|
NM_001077350.3(NPRL3):c.1161+1G>A
|
|
|
NM_001077350.3(NPRL3):c.1161+20G>A
|
|
|
NM_001077350.3(NPRL3):c.1161+5G>A
|
|
|
NM_001077350.3(NPRL3):c.1161+6T>C
|
|
|
NM_001077350.3(NPRL3):c.1162-13C>T
|
|
|
NM_001077350.3(NPRL3):c.1162-18A>C
|
|
|
NM_001077350.3(NPRL3):c.1162-4G>C
|
rs539175375
|
|
NM_001077350.3(NPRL3):c.1163C>T (p.Thr388Ile)
|
rs758123622
|
|
NM_001077350.3(NPRL3):c.116C>A (p.Thr39Lys)
|
|
|
NM_001077350.3(NPRL3):c.1174C>T (p.Gln392Ter)
|
rs2141902592
|
|
NM_001077350.3(NPRL3):c.1178dup (p.Met393fs)
|
rs2141902589
|
|
NM_001077350.3(NPRL3):c.118+11G>T
|
|
|
NM_001077350.3(NPRL3):c.118+16G>T
|
|
|
NM_001077350.3(NPRL3):c.118+18G>C
|
|
|
NM_001077350.3(NPRL3):c.118+18_118+40del
|
|
|
NM_001077350.3(NPRL3):c.118+19G>C
|
|
|
NM_001077350.3(NPRL3):c.118+1G>A
|
|
|
NM_001077350.3(NPRL3):c.118+3_118+6del
|
rs1312109237
|
|
NM_001077350.3(NPRL3):c.118+6T>C
|
|
|
NM_001077350.3(NPRL3):c.1180GTG[1] (p.Val395del)
|
rs992225807
|
|
NM_001077350.3(NPRL3):c.1184_1188del (p.Val395fs)
|
|
|
NM_001077350.3(NPRL3):c.119-12G>A
|
rs554836466
|
|
NM_001077350.3(NPRL3):c.119-1G>C
|
rs2141981312
|
|
NM_001077350.3(NPRL3):c.119-20C>T
|
|
|
NM_001077350.3(NPRL3):c.119-2A>G
|
rs1361784389
|
|
NM_001077350.3(NPRL3):c.119-3C>G
|
rs1900744785
|
|
NM_001077350.3(NPRL3):c.119-5C>T
|
rs1596539888
|
|
NM_001077350.3(NPRL3):c.1191G>A (p.Met397Ile)
|
|
|
NM_001077350.3(NPRL3):c.1198C>A (p.Arg400Ser)
|
rs556683821
|
|
NM_001077350.3(NPRL3):c.119G>A (p.Ser40Asn)
|
|
|
NM_001077350.3(NPRL3):c.119G>C (p.Ser40Thr)
|
rs1277893899
|
|
NM_001077350.3(NPRL3):c.11A>C (p.Asn4Thr)
|
|
|
NM_001077350.3(NPRL3):c.11A>G (p.Asn4Ser)
|
rs759212295
|
|
NM_001077350.3(NPRL3):c.1205T>C (p.Leu402Pro)
|
|
|
NM_001077350.3(NPRL3):c.1206T>C (p.Leu402=)
|
|
|
NM_001077350.3(NPRL3):c.1208T>C (p.Leu403Pro)
|
rs2141902503
|
|
NM_001077350.3(NPRL3):c.1211T>G (p.Ile404Ser)
|
|
|
NM_001077350.3(NPRL3):c.1211_1245del (p.Ile404fs)
|
rs1898686157
|
|
NM_001077350.3(NPRL3):c.1213C>T (p.Gln405Ter)
|
rs1898688345
|
|
NM_001077350.3(NPRL3):c.1217_1351+24delinsC
|
rs2141901872
|
|
NM_001077350.3(NPRL3):c.121A>G (p.Lys41Glu)
|
rs1299719512
|
|
NM_001077350.3(NPRL3):c.1221C>T (p.His407=)
|
|
|
NM_001077350.3(NPRL3):c.1223C>T (p.Thr408Ile)
|
rs762208602
|
|
NM_001077350.3(NPRL3):c.1230_1231del (p.Cys411fs)
|
rs1898687282
|
|
NM_001077350.3(NPRL3):c.1234C>T (p.Leu412=)
|
|
|
NM_001077350.3(NPRL3):c.1237A>G (p.Met413Val)
|
rs749424318
|
|
NM_001077350.3(NPRL3):c.1239G>A (p.Met413Ile)
|
rs1057524503
|
|
NM_001077350.3(NPRL3):c.1247C>G (p.Pro416Arg)
|
rs746082270
|
|
NM_001077350.3(NPRL3):c.1252GAG[2] (p.Glu420del)
|
rs765072700
|
|
NM_001077350.3(NPRL3):c.1255G>T (p.Glu419Ter)
|
|
|
NM_001077350.3(NPRL3):c.1258G>C (p.Glu420Gln)
|
|
|
NM_001077350.3(NPRL3):c.1261_1281dup (p.Pro421_Asp427dup)
|
rs2141902200
|
|
NM_001077350.3(NPRL3):c.1268C>A (p.Pro423Gln)
|
rs200792895
|
|
NM_001077350.3(NPRL3):c.126G>T (p.Pro42=)
|
rs370587053
|
|
NM_001077350.3(NPRL3):c.1270C>A (p.Arg424=)
|
|
|
NM_001077350.3(NPRL3):c.1270dup (p.Arg424fs)
|
rs1567129567
|
|
NM_001077350.3(NPRL3):c.1271G>A (p.Arg424Gln)
|
|
|
NM_001077350.3(NPRL3):c.1278C>G (p.Asp426Glu)
|
rs74712570
|
|
NM_001077350.3(NPRL3):c.1278C>T (p.Asp426=)
|
rs74712570
|
|
NM_001077350.3(NPRL3):c.1287C>G (p.Pro429=)
|
rs2141902159
|
|
NM_001077350.3(NPRL3):c.1287del (p.Phe430fs)
|
rs1288771812
|
|
NM_001077350.3(NPRL3):c.128G>A (p.Arg43His)
|
rs376476299
|
|
NM_001077350.3(NPRL3):c.128G>C (p.Arg43Pro)
|
rs376476299
|
|
NM_001077350.3(NPRL3):c.128G>T (p.Arg43Leu)
|
rs376476299
|
|
NM_001077350.3(NPRL3):c.1291A>T (p.Thr431Ser)
|
rs2141902154
|
|
NM_001077350.3(NPRL3):c.1298G>C (p.Arg433Pro)
|
rs781225056
|
|
NM_001077350.3(NPRL3):c.1299G>T (p.Arg433=)
|
rs749182879
|
|
NM_001077350.3(NPRL3):c.12C>T (p.Asn4=)
|
rs1719721939
|
|
NM_001077350.3(NPRL3):c.1302C>G (p.Val434=)
|
|
|
NM_001077350.3(NPRL3):c.1307G>T (p.Gly436Val)
|
rs767317111
|
|
NM_001077350.3(NPRL3):c.1310G>A (p.Arg437His)
|
|
|
NM_001077350.3(NPRL3):c.1314C>A (p.Ser438Arg)
|
rs1336372042
|
|
NM_001077350.3(NPRL3):c.1315C>A (p.Leu439Ile)
|
|
|
NM_001077350.3(NPRL3):c.1317C>T (p.Leu439=)
|
rs1374917107
|
|
NM_001077350.3(NPRL3):c.1322C>T (p.Thr441Met)
|
rs776673140
|
|
NM_001077350.3(NPRL3):c.1332_1333dup (p.Leu445fs)
|
rs1898675878
|
|
NM_001077350.3(NPRL3):c.1334T>C (p.Leu445Pro)
|
|
|
NM_001077350.3(NPRL3):c.1347C>A (p.Ser449=)
|
rs1272247635
|
|
NM_001077350.3(NPRL3):c.1347C>T (p.Ser449=)
|
|
|
NM_001077350.3(NPRL3):c.1351+11C>T
|
|
|
NM_001077350.3(NPRL3):c.1351+11dup
|
|
|
NM_001077350.3(NPRL3):c.1351+16C>T
|
|
|
NM_001077350.3(NPRL3):c.1351+19C>G
|
|
|
NM_001077350.3(NPRL3):c.1351+3A>G
|
|
|
NM_001077350.3(NPRL3):c.1351+9C>T
|
|
|
NM_001077350.3(NPRL3):c.1352-10T>A
|
|
|
NM_001077350.3(NPRL3):c.1352-10_1368del
|
|
|
NM_001077350.3(NPRL3):c.1352-17A>G
|
|
|
NM_001077350.3(NPRL3):c.1352-4_1352-1delinsTGACCCATCC
|
rs886037959
|
|
NM_001077350.3(NPRL3):c.1352-5C>A
|
rs745831986
|
|
NM_001077350.3(NPRL3):c.1352-5C>T
|
|
|
NM_001077350.3(NPRL3):c.1352-6C>T
|
|
|
NM_001077350.3(NPRL3):c.1352-9C>G
|
rs539074617
|
|
NM_001077350.3(NPRL3):c.1353C>T (p.Thr451=)
|
rs2141900180
|
|
NM_001077350.3(NPRL3):c.1359C>T (p.Ser453=)
|
rs756373989
|
|
NM_001077350.3(NPRL3):c.1360G>A (p.Asp454Asn)
|
|
|
NM_001077350.3(NPRL3):c.1362T>C (p.Asp454=)
|
rs1218207644
|
|
NM_001077350.3(NPRL3):c.1368G>A (p.Met456Ile)
|
|
|
NM_001077350.3(NPRL3):c.1368G>T (p.Met456Ile)
|
|
|
NM_001077350.3(NPRL3):c.136T>C (p.Tyr46His)
|
|
|
NM_001077350.3(NPRL3):c.1372del (p.Leu458fs)
|
rs1898627430
|
|
NM_001077350.3(NPRL3):c.1374C>T (p.Leu458=)
|
|
|
NM_001077350.3(NPRL3):c.1375_1376dup (p.Ser460fs)
|
rs886037960
|
|
NM_001077350.3(NPRL3):c.138C>G (p.Tyr46Ter)
|
rs1021001959
|
|
NM_001077350.3(NPRL3):c.1392C>A (p.Asp464Glu)
|
|
|
NM_001077350.3(NPRL3):c.139G>T (p.Ala47Ser)
|
rs1401901852
|
|
NM_001077350.3(NPRL3):c.1404A>G (p.Ala468=)
|
rs2141900060
|
|
NM_001077350.3(NPRL3):c.1408C>T (p.Leu470=)
|
|
|
NM_001077350.3(NPRL3):c.1421G>C (p.Gly474Ala)
|
|
|
NM_001077350.3(NPRL3):c.1427del (p.Ser476fs)
|
|
|
NM_001077350.3(NPRL3):c.1430C>T (p.Pro477Leu)
|
rs2141899988
|
|
NM_001077350.3(NPRL3):c.1433T>G (p.Leu478Arg)
|
rs774394208
|
|
NM_001077350.3(NPRL3):c.1437C>G (p.Asn479Lys)
|
rs2141899969
|
|
NM_001077350.3(NPRL3):c.1455C>A (p.Asn485Lys)
|
|
|
NM_001077350.3(NPRL3):c.1461G>A (p.Leu487=)
|
rs747844612
|
|
NM_001077350.3(NPRL3):c.1466_1467= (p.Ser489=)
|
|
|
NM_001077350.3(NPRL3):c.1466_1467insT (p.Leu490fs)
|
|
|
NM_001077350.3(NPRL3):c.1468dup (p.Leu490fs)
|
rs57321480
|
|
NM_001077350.3(NPRL3):c.1470G>A (p.Leu490=)
|
rs1172480661
|
|
NM_001077350.3(NPRL3):c.1473G>A (p.Ser491=)
|
|
|
NM_001077350.3(NPRL3):c.1480G>T (p.Glu494Ter)
|
rs2141899833
|
|
NM_001077350.3(NPRL3):c.1492A>G (p.Ile498Val)
|
rs1898614224
|
|
NM_001077350.3(NPRL3):c.1492_1512del (p.Ile498_Ala504del)
|
rs2141899739
|
|
NM_001077350.3(NPRL3):c.14C>A (p.Thr5Asn)
|
rs776554504
|
|
NM_001077350.3(NPRL3):c.1505C>T (p.Pro502Leu)
|
|
|
NM_001077350.3(NPRL3):c.1510G>T (p.Ala504Ser)
|
|
|
NM_001077350.3(NPRL3):c.1514_1518delinsTTCTGGGGCT (p.Gln505fs)
|
rs1555439541
|
|
NM_001077350.3(NPRL3):c.1528C>A (p.Leu510Ile)
|
rs2141899710
|
|
NM_001077350.3(NPRL3):c.1533C>A (p.Arg511=)
|
rs2141899690
|
|
NM_001077350.3(NPRL3):c.1542C>A (p.Ala514=)
|
|
|
NM_001077350.3(NPRL3):c.1544+1del
|
rs1898611246
|
|
NM_001077350.3(NPRL3):c.1544+3_1544+5del
|
rs1898611086
|
|
NM_001077350.3(NPRL3):c.15del (p.Ser6fs)
|
rs2141995568
|
|
NM_001077350.3(NPRL3):c.161A>G (p.His54Arg)
|
rs1900741473
|
|
NM_001077350.3(NPRL3):c.169G>A (p.Glu57Lys)
|
rs907712162
|
|
NM_001077350.3(NPRL3):c.169G>T (p.Glu57Ter)
|
|
|
NM_001077350.3(NPRL3):c.173A>C (p.Gln58Pro)
|
|
|
NM_001077350.3(NPRL3):c.177C>A (p.Asp59Glu)
|
rs1048069050
|
|
NM_001077350.3(NPRL3):c.178G>A (p.Gly60Ser)
|
|
|
NM_001077350.3(NPRL3):c.188+10C>T
|
|
|
NM_001077350.3(NPRL3):c.188+13C>A
|
|
|
NM_001077350.3(NPRL3):c.188+5A>C
|
|
|
NM_001077350.3(NPRL3):c.188+5A>G
|
|
|
NM_001077350.3(NPRL3):c.189-1G>A
|
rs1900184374
|
|
NM_001077350.3(NPRL3):c.189-3A>G
|
rs1900184532
|
|
NM_001077350.3(NPRL3):c.189G>A (p.Arg63=)
|
|
|
NM_001077350.3(NPRL3):c.19C>A (p.Pro7Thr)
|
rs1901212556
|
|
NM_001077350.3(NPRL3):c.224C>T (p.Thr75Ile)
|
|
|
NM_001077350.3(NPRL3):c.227A>C (p.Lys76Thr)
|
rs1900182442
|
|
NM_001077350.3(NPRL3):c.236T>C (p.Met79Thr)
|
|
|
NM_001077350.3(NPRL3):c.242G>A (p.Gly81Asp)
|
|
|
NM_001077350.3(NPRL3):c.244C>T (p.Gln82Ter)
|
rs1900181500
|
|
NM_001077350.3(NPRL3):c.258G>A (p.Leu86=)
|
rs2141960692
|
|
NM_001077350.3(NPRL3):c.258del (p.Lys87fs)
|
rs2141960699
|
|
NM_001077350.3(NPRL3):c.25A>G (p.Ser9Gly)
|
rs760236969
|
|
NM_001077350.3(NPRL3):c.269A>G (p.Asn90Ser)
|
|
|
NM_001077350.3(NPRL3):c.269del (p.Asn90fs)
|
|
|
NM_001077350.3(NPRL3):c.274C>T (p.Arg92Ter)
|
rs1199226176
|
|
NM_001077350.3(NPRL3):c.280del (p.Val94fs)
|
rs2141960644
|
|
NM_001077350.3(NPRL3):c.283G>C (p.Gly95Arg)
|
|
|
NM_001077350.3(NPRL3):c.289C>G (p.Pro97Ala)
|
|
|
NM_001077350.3(NPRL3):c.292A>G (p.Thr98Ala)
|
rs1900178756
|
|
NM_001077350.3(NPRL3):c.293C>T (p.Thr98Ile)
|
rs1596528750
|
|
NM_001077350.3(NPRL3):c.294A>G (p.Thr98=)
|
|
|
NM_001077350.3(NPRL3):c.294A>T (p.Thr98=)
|
rs370196395
|
|
NM_001077350.3(NPRL3):c.298C>G (p.Leu100Val)
|
rs1900178162
|
|
NM_001077350.3(NPRL3):c.301C>T (p.Gln101Ter)
|
rs1596528731
|
|
NM_001077350.3(NPRL3):c.310C>A (p.Leu104Met)
|
rs1900177602
|
|
NM_001077350.3(NPRL3):c.316C>T (p.Gln106Ter)
|
rs1215657187
|
|
NM_001077350.3(NPRL3):c.318+11C>A
|
|
|
NM_001077350.3(NPRL3):c.318+13C>T
|
rs376154100
|
|
NM_001077350.3(NPRL3):c.318+13_318+52del
|
rs1311321918
|
|
NM_001077350.3(NPRL3):c.318+13_318+72del
|
rs2141960376
|
|
NM_001077350.3(NPRL3):c.318+14T>C
|
|
|
NM_001077350.3(NPRL3):c.318+16G>A
|
|
|
NM_001077350.3(NPRL3):c.318+18C>A
|
|
|
NM_001077350.3(NPRL3):c.318+18C>T
|
|
|
NM_001077350.3(NPRL3):c.318+1G>A
|
rs2141960559
|
|
NM_001077350.3(NPRL3):c.318+3A>G
|
rs746765533
|
|
NM_001077350.3(NPRL3):c.319-10T>A
|
rs1900090284
|
|
NM_001077350.3(NPRL3):c.319-13G>A
|
rs953340982
|
|
NM_001077350.3(NPRL3):c.319-13G>C
|
|
|
NM_001077350.3(NPRL3):c.319-18A>G
|
|
|
NM_001077350.3(NPRL3):c.319-1G>A
|
|
|
NM_001077350.3(NPRL3):c.341del (p.Pro114fs)
|
rs1596526976
|
|
NM_001077350.3(NPRL3):c.346A>C (p.Arg116=)
|
|
|
NM_001077350.3(NPRL3):c.349del (p.Glu117fs)
|
rs1900088045
|
|
NM_001077350.3(NPRL3):c.369T>G (p.Leu123=)
|
rs2141957568
|
|
NM_001077350.3(NPRL3):c.377T>C (p.Val126Ala)
|
rs1024335545
|
|
NM_001077350.3(NPRL3):c.377T>G (p.Val126Gly)
|
rs1024335545
|
|
NM_001077350.3(NPRL3):c.377del (p.Val126fs)
|
rs1596526915
|
|
NM_001077350.3(NPRL3):c.393+13A>G
|
rs767844249
|
|
NM_001077350.3(NPRL3):c.393+3G>C
|
rs1567141885
|
|
NM_001077350.3(NPRL3):c.393+4_393+7del
|
rs757371554
|
|
NM_001077350.3(NPRL3):c.393+5G>A
|
|
|
NM_001077350.3(NPRL3):c.393+7G>C
|
|
|
NM_001077350.3(NPRL3):c.394-11C>T
|
|
|
NM_001077350.3(NPRL3):c.394-12T>C
|
|
|
NM_001077350.3(NPRL3):c.394-16_394-15delinsTT
|
|
|
NM_001077350.3(NPRL3):c.394-1747del
|
rs2141952986
|
|
NM_001077350.3(NPRL3):c.394-20G>A
|
rs2141950467
|
|
NM_001077350.3(NPRL3):c.394-20_394-19del
|
rs1899875996
|
|
NM_001077350.3(NPRL3):c.394-9C>T
|
|
|
NM_001077350.3(NPRL3):c.394G>A (p.Ala132Thr)
|
rs1899875190
|
|
NM_001077350.3(NPRL3):c.396C>T (p.Ala132=)
|
rs1289225879
|
|
NM_001077350.3(NPRL3):c.400G>T (p.Ala134Ser)
|
|
|
NM_001077350.3(NPRL3):c.406C>T (p.Pro136Ser)
|
|
|
NM_001077350.3(NPRL3):c.407C>A (p.Pro136Gln)
|
rs547462000
|
|
NM_001077350.3(NPRL3):c.419dup (p.Asn140fs)
|
rs2141950334
|
|
NM_001077350.3(NPRL3):c.420C>T (p.Asn140=)
|
rs1330216548
|
|
NM_001077350.3(NPRL3):c.423_426del (p.Leu142fs)
|
rs1567139896
|
|
NM_001077350.3(NPRL3):c.427C>T (p.His143Tyr)
|
rs764927474
|
|
NM_001077350.3(NPRL3):c.434T>C (p.Leu145Pro)
|
rs1899872500
|
|
NM_001077350.3(NPRL3):c.434_453del (p.Leu145fs)
|
|
|
NM_001077350.3(NPRL3):c.439C>G (p.Arg147Gly)
|
|
|
NM_001077350.3(NPRL3):c.440G>A (p.Arg147His)
|
rs1470285968
|
|
NM_001077350.3(NPRL3):c.44del (p.Ser15fs)
|
rs1901211202
|
|
NM_001077350.3(NPRL3):c.451A>G (p.Thr151Ala)
|
rs1899870989
|
|
NM_001077350.3(NPRL3):c.453C>T (p.Thr151=)
|
|
|
NM_001077350.3(NPRL3):c.458T>G (p.Leu153Arg)
|
|
|
NM_001077350.3(NPRL3):c.460C>T (p.Gln154Ter)
|
rs2141950212
|
|
NM_001077350.3(NPRL3):c.465C>G (p.His155Gln)
|
rs774187145
|
|
NM_001077350.3(NPRL3):c.465C>T (p.His155=)
|
rs774187145
|
|
NM_001077350.3(NPRL3):c.469G>T (p.Glu157Ter)
|
rs1596522356
|
|
NM_001077350.3(NPRL3):c.472C>A (p.Arg158Ser)
|
|
|
NM_001077350.3(NPRL3):c.472C>T (p.Arg158Cys)
|
|
|
NM_001077350.3(NPRL3):c.481C>T (p.Gln161Ter)
|
rs1899868619
|
|
NM_001077350.3(NPRL3):c.488_490dup (p.Leu163_Thr164insIle)
|
|
|
NM_001077350.3(NPRL3):c.491C>G (p.Thr164Ser)
|
|
|
NM_001077350.3(NPRL3):c.494G>A (p.Arg165Gln)
|
|
|
NM_001077350.3(NPRL3):c.496G>T (p.Glu166Ter)
|
rs1596522300
|
|
NM_001077350.3(NPRL3):c.500C>T (p.Ala167Val)
|
|
|
NM_001077350.3(NPRL3):c.516G>A (p.Ala172=)
|
rs758642036
|
|
NM_001077350.3(NPRL3):c.518dup (p.Gln174fs)
|
rs2141950064
|
|
NM_001077350.3(NPRL3):c.51C>T (p.Ser17=)
|
|
|
NM_001077350.3(NPRL3):c.526G>T (p.Glu176Ter)
|
|
|
NM_001077350.3(NPRL3):c.529G>T (p.Val177Leu)
|
|
|
NM_001077350.3(NPRL3):c.531G>A (p.Val177=)
|
rs1899866156
|
|
NM_001077350.3(NPRL3):c.542C>T (p.Ala181Val)
|
rs1452724103
|
|
NM_001077350.3(NPRL3):c.547+12A>C
|
|
|
NM_001077350.3(NPRL3):c.547+12A>G
|
rs1394524575
|
|
NM_001077350.3(NPRL3):c.547+16C>A
|
|
|
NM_001077350.3(NPRL3):c.547+1G>A
|
rs1899864955
|
|
NM_001077350.3(NPRL3):c.547+1G>C
|
rs1899864955
|
|
NM_001077350.3(NPRL3):c.547+20A>T
|
|
|
NM_001077350.3(NPRL3):c.547+2T>A
|
|
|
NM_001077350.3(NPRL3):c.548-3T>C
|
|
|
NM_001077350.3(NPRL3):c.548-5T>C
|
|
|
NM_001077350.3(NPRL3):c.548-7C>T
|
|
|
NM_001077350.3(NPRL3):c.552T>C (p.Asn184=)
|
rs2141946239
|
|
NM_001077350.3(NPRL3):c.553G>C (p.Glu185Gln)
|
|
|
NM_001077350.3(NPRL3):c.556G>C (p.Gly186Arg)
|
rs2141946228
|
|
NM_001077350.3(NPRL3):c.559C>T (p.Pro187Ser)
|
rs1899761608
|
|
NM_001077350.3(NPRL3):c.562C>T (p.Gln188Ter)
|
|
|
NM_001077350.3(NPRL3):c.563dup (p.Ser189fs)
|
|
|
NM_001077350.3(NPRL3):c.566C>A (p.Ser189Tyr)
|
|
|
NM_001077350.3(NPRL3):c.568C>T (p.Pro190Ser)
|
|
|
NM_001077350.3(NPRL3):c.569C>T (p.Pro190Leu)
|
|
|
NM_001077350.3(NPRL3):c.577C>T (p.His193Tyr)
|
rs1367511037
|
|
NM_001077350.3(NPRL3):c.591G>A (p.Lys197=)
|
rs776506827
|
|
NM_001077350.3(NPRL3):c.591_629+634del
|
rs1899713412
|
|
NM_001077350.3(NPRL3):c.593G>T (p.Cys198Phe)
|
|
|
NM_001077350.3(NPRL3):c.608A>C (p.Asp203Ala)
|
rs1899757551
|
|
NM_001077350.3(NPRL3):c.610C>T (p.Leu204Phe)
|
|
|
NM_001077350.3(NPRL3):c.614A>T (p.Lys205Met)
|
|
|
NM_001077350.3(NPRL3):c.622del (p.Tyr208fs)
|
rs2141946070
|
|
NM_001077350.3(NPRL3):c.629+1G>A
|
rs2141946055
|
|
NM_001077350.3(NPRL3):c.629+1G>T
|
rs2141946055
|
|
NM_001077350.3(NPRL3):c.629+3A>G
|
|
|
NM_001077350.3(NPRL3):c.629+4A>G
|
rs1220187651
|
|
NM_001077350.3(NPRL3):c.629+5G>A
|
rs2141946040
|
|
NM_001077350.3(NPRL3):c.629+8A>G
|
|
|
NM_001077350.3(NPRL3):c.629+9G>A
|
|
|
NM_001077350.3(NPRL3):c.630-13C>T
|
|
|
NM_001077350.3(NPRL3):c.630-15G>A
|
|
|
NM_001077350.3(NPRL3):c.630-16C>T
|
|
|
NM_001077350.3(NPRL3):c.630-1G>A
|
rs1899235603
|
|
NM_001077350.3(NPRL3):c.630-21_630-20dup
|
|
|
NM_001077350.3(NPRL3):c.630-3C>G
|
rs2141925516
|
|
NM_001077350.3(NPRL3):c.630-7T>C
|
rs2141925531
|
|
NM_001077350.3(NPRL3):c.644del (p.Gly215fs)
|
rs1899234101
|
|
NM_001077350.3(NPRL3):c.64C>G (p.Leu22Val)
|
|
|
NM_001077350.3(NPRL3):c.653G>C (p.Arg218Pro)
|
rs201341279
|
|
NM_001077350.3(NPRL3):c.666C>T (p.Asn222=)
|
|
|
NM_001077350.3(NPRL3):c.667A>G (p.Ser223Gly)
|
|
|
NM_001077350.3(NPRL3):c.667_670del (p.Ser223fs)
|
|
|
NM_001077350.3(NPRL3):c.685T>C (p.Phe229Leu)
|
rs1899232122
|
|
NM_001077350.3(NPRL3):c.686_688del (p.Phe229del)
|
|
|
NM_001077350.3(NPRL3):c.687C>T (p.Phe229=)
|
rs1596508663
|
|
NM_001077350.3(NPRL3):c.691_717del (p.Leu231_Ala239del)
|
rs1300716374
|
|
NM_001077350.3(NPRL3):c.696C>G (p.Pro232=)
|
|
|
NM_001077350.3(NPRL3):c.69G>C (p.Leu23=)
|
|
|
NM_001077350.3(NPRL3):c.700A>G (p.Lys234Glu)
|
rs1899230843
|
|
NM_001077350.3(NPRL3):c.714G>C (p.Ala238=)
|
rs751260495
|
|
NM_001077350.3(NPRL3):c.714G>T (p.Ala238=)
|
rs751260495
|
|
NM_001077350.3(NPRL3):c.726dup (p.Ile243fs)
|
rs2141925225
|
|
NM_001077350.3(NPRL3):c.730C>T (p.Pro244Ser)
|
rs1225559784
|
|
NM_001077350.3(NPRL3):c.732C>A (p.Pro244=)
|
rs1196165192
|
|
NM_001077350.3(NPRL3):c.736_737insTTTC (p.Glu246fs)
|
|
|
NM_001077350.3(NPRL3):c.737A>G (p.Glu246Gly)
|
|
|
NM_001077350.3(NPRL3):c.73A>G (p.Arg25Gly)
|
|
|
NM_001077350.3(NPRL3):c.744C>A (p.Ile248=)
|
rs375592476
|
|
NM_001077350.3(NPRL3):c.744C>G (p.Ile248Met)
|
rs375592476
|
|
NM_001077350.3(NPRL3):c.744C>T (p.Ile248=)
|
rs375592476
|
|
NM_001077350.3(NPRL3):c.745G>T (p.Glu249Ter)
|
rs200041907
|
|
NM_001077350.3(NPRL3):c.747A>T (p.Glu249Asp)
|
rs2141925147
|
|
NM_001077350.3(NPRL3):c.748C>A (p.Arg250=)
|
|
|
NM_001077350.3(NPRL3):c.749G>A (p.Arg250Gln)
|
rs947759739
|
|
NM_001077350.3(NPRL3):c.74G>C (p.Arg25Thr)
|
rs1901209994
|
|
NM_001077350.3(NPRL3):c.74G>T (p.Arg25Met)
|
rs1901209994
|
|
NM_001077350.3(NPRL3):c.750G>A (p.Arg250=)
|
|
|
NM_001077350.3(NPRL3):c.760G>A (p.Ala254Thr)
|
|
|
NM_001077350.3(NPRL3):c.761C>T (p.Ala254Val)
|
rs1899225654
|
|
NM_001077350.3(NPRL3):c.763_766dup (p.Arg256fs)
|
|
|
NM_001077350.3(NPRL3):c.765C>T (p.Ile255=)
|
|
|
NM_001077350.3(NPRL3):c.766C>T (p.Arg256Cys)
|
rs779688768
|
|
NM_001077350.3(NPRL3):c.767+12G>A
|
|
|
NM_001077350.3(NPRL3):c.767+12G>T
|
|
|
NM_001077350.3(NPRL3):c.767+15C>A
|
|
|
NM_001077350.3(NPRL3):c.767+17A>C
|
|
|
NM_001077350.3(NPRL3):c.767+18C>T
|
rs377414615
|
|
NM_001077350.3(NPRL3):c.767+19del
|
|
|
NM_001077350.3(NPRL3):c.767+1G>T
|
rs1567134495
|
|
NM_001077350.3(NPRL3):c.767+1del
|
rs2141925052
|
|
NM_001077350.3(NPRL3):c.768-10T>G
|
rs566886246
|
|
NM_001077350.3(NPRL3):c.768-1G>A
|
|
|
NM_001077350.3(NPRL3):c.768-2del
|
rs1899110688
|
|
NM_001077350.3(NPRL3):c.768-6T>C
|
|
|
NM_001077350.3(NPRL3):c.772T>G (p.Tyr258Asp)
|
|
|
NM_001077350.3(NPRL3):c.775C>T (p.His259Tyr)
|
|
|
NM_001077350.3(NPRL3):c.776A>G (p.His259Arg)
|
rs1899109777
|
|
NM_001077350.3(NPRL3):c.781del (p.Leu261fs)
|
|
|
NM_001077350.3(NPRL3):c.782T>C (p.Leu261Pro)
|
rs1899109340
|
|
NM_001077350.3(NPRL3):c.789G>A (p.Leu263=)
|
rs1269886749
|
|
NM_001077350.3(NPRL3):c.78C>A (p.Tyr26Ter)
|
rs2141995468
|
|
NM_001077350.3(NPRL3):c.795T>G (p.Ser265Arg)
|
|
|
NM_001077350.3(NPRL3):c.799G>T (p.Glu267Ter)
|
|
|
NM_001077350.3(NPRL3):c.804G>A (p.Lys268=)
|
|
|
NM_001077350.3(NPRL3):c.804G>C (p.Lys268Asn)
|
|
|
NM_001077350.3(NPRL3):c.807C>A (p.Ser269=)
|
rs1033607990
|
|
NM_001077350.3(NPRL3):c.812T>C (p.Leu271Pro)
|
|
|
NM_001077350.3(NPRL3):c.821T>C (p.Leu274Pro)
|
|
|
NM_001077350.3(NPRL3):c.832T>G (p.Cys278Gly)
|
|
|
NM_001077350.3(NPRL3):c.834C>T (p.Cys278=)
|
|
|
NM_001077350.3(NPRL3):c.835dup (p.Ser279fs)
|
rs886037958
|
|
NM_001077350.3(NPRL3):c.842C>T (p.Ala281Val)
|
|
|
NM_001077350.3(NPRL3):c.844C>T (p.Leu282=)
|
rs755359263
|
|
NM_001077350.3(NPRL3):c.851G>A (p.Arg284Gln)
|
rs1437185591
|
|
NM_001077350.3(NPRL3):c.85C>T (p.Gln29Ter)
|
|
|
NM_001077350.3(NPRL3):c.860A>C (p.Lys287Thr)
|
|
|
NM_001077350.3(NPRL3):c.863C>T (p.Thr288Ile)
|
|
|
NM_001077350.3(NPRL3):c.883C>T (p.Leu295=)
|
rs2141920152
|
|
NM_001077350.3(NPRL3):c.891G>A (p.Gln297=)
|
|
|
NM_001077350.3(NPRL3):c.898C>T (p.Gln300Ter)
|
rs746975723
|
|
NM_001077350.3(NPRL3):c.8ACA[1] (p.Asn4del)
|
rs2141995584
|
|
NM_001077350.3(NPRL3):c.914C>T (p.Ala305Val)
|
rs2141920111
|
|
NM_001077350.3(NPRL3):c.922C>T (p.Gln308Ter)
|
rs2141920098
|
|
NM_001077350.3(NPRL3):c.922_923dup (p.Gln308fs)
|
rs1555441032
|
|
NM_001077350.3(NPRL3):c.924+17C>A
|
|
|
NM_001077350.3(NPRL3):c.924+3A>G
|
|
|
NM_001077350.3(NPRL3):c.924+5A>T
|
rs1899101610
|
|
NM_001077350.3(NPRL3):c.924+9C>G
|
|
|
NM_001077350.3(NPRL3):c.924G>C (p.Gln308His)
|
rs1596505517
|
|
NM_001077350.3(NPRL3):c.925-10T>C
|
|
|
NM_001077350.3(NPRL3):c.925-12dup
|
rs776084653
|
|
NM_001077350.3(NPRL3):c.925-1G>C
|
rs1898844907
|
|
NM_001077350.3(NPRL3):c.925-2A>G
|
rs1431914212
|
|
NM_001077350.3(NPRL3):c.925-2A>T
|
rs1431914212
|
|
NM_001077350.3(NPRL3):c.925-3C>T
|
rs2141909476
|
|
NM_001077350.3(NPRL3):c.925-6C>T
|
|
|
NM_001077350.3(NPRL3):c.925-8del
|
rs2141909491
|
|
NM_001077350.3(NPRL3):c.925-9T>C
|
|
|
NM_001077350.3(NPRL3):c.92G>A (p.Ser31Asn)
|
rs780716774
|
|
NM_001077350.3(NPRL3):c.931C>T (p.Gln311Ter)
|
rs1898844513
|
|
NM_001077350.3(NPRL3):c.93C>T (p.Ser31=)
|
|
|
NM_001077350.3(NPRL3):c.94C>T (p.Gln32Ter)
|
rs1567152003
|
|
NM_001077350.3(NPRL3):c.954C>G (p.Tyr318Ter)
|
rs1596500172
|
|
NM_001077350.3(NPRL3):c.967ATC[2] (p.Ile325del)
|
rs1287678265
|
|
NM_001077350.3(NPRL3):c.975C>A (p.Ile325=)
|
rs2141909339
|
|
NM_001077350.3(NPRL3):c.975del (p.Tyr326fs)
|
|
|
NM_001077350.3(NPRL3):c.979C>T (p.Pro327Ser)
|
rs2141909329
|
|
NM_001077350.3(NPRL3):c.980C>T (p.Pro327Leu)
|
rs1898841618
|
|
NM_001077350.3(NPRL3):c.991AAC[1] (p.Asn332del)
|
rs1555440242
|
|
NM_001077350.3(NPRL3):c.998T>A (p.Val333Asp)
|
|
|
NM_001077350.3(NPRL3):c.999C>A (p.Val333=)
|
|
|
NM_001077350.3(NPRL3):c.99G>C (p.Glu33Asp)
|
rs2141995418
|
|
NM_001077350.3(NPRL3):c.9C>A (p.Asp3Glu)
|
|
|
NM_001077350.3(NPRL3):c.9C>G (p.Asp3Glu)
|
rs1478358968
|
|