NM_007254.4(PNKP):c.416G>A (p.Arg139His)
|
rs34472250
|
0.00185
|
NM_007254.4(PNKP):c.1491C>T (p.Ala497=)
|
rs116192442
|
0.00133
|
NM_007254.4(PNKP):c.1029+2T>C
|
rs199919568
|
0.00115
|
NM_007254.4(PNKP):c.650C>G (p.Thr217Ser)
|
rs115259839
|
0.00112
|
NM_007254.4(PNKP):c.501G>A (p.Val167=)
|
rs142143566
|
0.00071
|
NM_007254.4(PNKP):c.901C>T (p.Arg301Trp)
|
rs201503405
|
0.00061
|
NM_007254.4(PNKP):c.188C>T (p.Ala63Val)
|
rs3739173
|
0.00047
|
NM_007254.4(PNKP):c.519C>T (p.Asp173=)
|
rs144284975
|
0.00047
|
NM_007254.4(PNKP):c.672C>T (p.Arg224=)
|
rs151180981
|
0.00046
|
NM_007254.4(PNKP):c.627G>A (p.Glu209=)
|
rs532550120
|
0.00040
|
NM_007254.4(PNKP):c.893C>T (p.Ala298Val)
|
rs145615734
|
0.00037
|
NM_007254.4(PNKP):c.308C>T (p.Thr103Ile)
|
rs115419706
|
0.00033
|
NM_007254.4(PNKP):c.587A>G (p.Tyr196Cys)
|
rs138931842
|
0.00033
|
NM_007254.4(PNKP):c.671G>A (p.Arg224His)
|
rs199705876
|
0.00025
|
NM_007254.4(PNKP):c.1549C>T (p.Gln517Ter)
|
rs774995635
|
0.00019
|
NM_007254.4(PNKP):c.290A>G (p.Asn97Ser)
|
rs140290151
|
0.00019
|
NM_007254.4(PNKP):c.1413T>C (p.His471=)
|
rs370017666
|
0.00016
|
NM_007254.4(PNKP):c.1412A>T (p.His471Leu)
|
rs142032281
|
0.00015
|
NM_007254.4(PNKP):c.179G>A (p.Arg60Gln)
|
rs374743798
|
0.00015
|
NM_007254.4(PNKP):c.106G>A (p.Gly36Arg)
|
rs949517384
|
0.00014
|
NM_007254.4(PNKP):c.19C>T (p.Pro7Ser)
|
rs201221600
|
0.00013
|
NM_007254.4(PNKP):c.730G>C (p.Gly244Arg)
|
rs562480894
|
0.00013
|
NM_007254.4(PNKP):c.579-4G>A
|
rs371834726
|
0.00011
|
NM_007254.4(PNKP):c.670C>T (p.Arg224Cys)
|
rs761117623
|
0.00010
|
NM_007254.4(PNKP):c.994C>T (p.Pro332Ser)
|
rs373922574
|
0.00010
|
NM_007254.4(PNKP):c.1441G>A (p.Gly481Ser)
|
rs146941866
|
0.00007
|
NM_007254.4(PNKP):c.1186A>G (p.Arg396Gly)
|
rs563918674
|
0.00006
|
NM_007254.4(PNKP):c.1397T>C (p.Met466Thr)
|
rs145886749
|
0.00006
|
NM_007254.4(PNKP):c.1492A>C (p.Ile498Leu)
|
rs753116883
|
0.00006
|
NM_007254.4(PNKP):c.335C>G (p.Pro112Arg)
|
rs567905136
|
0.00006
|
NM_007254.4(PNKP):c.883G>A (p.Ala295Thr)
|
rs368887106
|
0.00006
|
NM_007254.4(PNKP):c.1387-48_1387-32del
|
rs537912514
|
0.00005
|
NM_007254.4(PNKP):c.782C>T (p.Pro261Leu)
|
rs755468325
|
0.00005
|
NM_007254.4(PNKP):c.861G>C (p.Val287=)
|
rs75203375
|
0.00005
|
NM_007254.4(PNKP):c.968C>T (p.Thr323Met)
|
rs372148913
|
0.00005
|
NM_007254.4(PNKP):c.1177C>T (p.His393Tyr)
|
rs772610025
|
0.00004
|
NM_007254.4(PNKP):c.1324G>A (p.Gly442Ser)
|
rs372459137
|
0.00004
|
NM_007254.4(PNKP):c.1256T>A (p.Val419Asp)
|
rs748365843
|
0.00003
|
NM_007254.4(PNKP):c.1302C>T (p.Tyr434=)
|
rs747244348
|
0.00003
|
NM_007254.4(PNKP):c.1308G>C (p.Gln436His)
|
rs780067167
|
0.00003
|
NM_007254.4(PNKP):c.1483T>C (p.Phe495Leu)
|
rs1165689250
|
0.00003
|
NM_007254.4(PNKP):c.1517G>A (p.Trp506Ter)
|
rs778043139
|
0.00003
|
NM_007254.4(PNKP):c.1559A>G (p.Glu520Gly)
|
rs886043128
|
0.00003
|
NM_007254.4(PNKP):c.407C>T (p.Pro136Leu)
|
rs11555414
|
0.00003
|
NM_007254.4(PNKP):c.736C>T (p.Pro246Ser)
|
rs147553148
|
0.00003
|
NM_007254.4(PNKP):c.979T>C (p.Phe327Leu)
|
rs912223009
|
0.00003
|
NM_007254.4(PNKP):c.1030-5C>T
|
rs374745816
|
0.00002
|
NM_007254.4(PNKP):c.1120C>T (p.Pro374Ser)
|
rs760583725
|
0.00002
|
NM_007254.4(PNKP):c.1274A>G (p.Asn425Ser)
|
rs541840060
|
0.00002
|
NM_007254.4(PNKP):c.1511G>A (p.Arg504Gln)
|
rs745651405
|
0.00002
|
NM_007254.4(PNKP):c.248T>C (p.Leu83Ser)
|
rs756169949
|
0.00002
|
NM_007254.4(PNKP):c.267G>A (p.Val89=)
|
rs531640505
|
0.00002
|
NM_007254.4(PNKP):c.673G>A (p.Gly225Arg)
|
rs144257114
|
0.00002
|
NM_007254.4(PNKP):c.844G>A (p.Gly282Arg)
|
rs751489111
|
0.00002
|
NM_007254.4(PNKP):c.1052C>T (p.Pro351Leu)
|
rs797045891
|
0.00001
|
NM_007254.4(PNKP):c.1125G>A (p.Gly375=)
|
rs727504101
|
0.00001
|
NM_007254.4(PNKP):c.1129G>A (p.Gly377Arg)
|
rs777457079
|
0.00001
|
NM_007254.4(PNKP):c.1145T>C (p.Leu382Pro)
|
rs796052855
|
0.00001
|
NM_007254.4(PNKP):c.1210C>T (p.Arg404Cys)
|
rs768304312
|
0.00001
|
NM_007254.4(PNKP):c.1232C>T (p.Thr411Ile)
|
rs868384150
|
0.00001
|
NM_007254.4(PNKP):c.1252C>T (p.Arg418Trp)
|
rs777641575
|
0.00001
|
NM_007254.4(PNKP):c.1255G>A (p.Val419Ile)
|
rs756416098
|
0.00001
|
NM_007254.4(PNKP):c.1258G>T (p.Ala420Ser)
|
rs754981151
|
0.00001
|
NM_007254.4(PNKP):c.1282G>A (p.Ala428Thr)
|
rs1568659088
|
0.00001
|
NM_007254.4(PNKP):c.1325G>C (p.Gly442Ala)
|
rs1360064159
|
0.00001
|
NM_007254.4(PNKP):c.1384C>T (p.Arg462Trp)
|
rs778893834
|
0.00001
|
NM_007254.4(PNKP):c.1429A>G (p.Met477Val)
|
rs796052856
|
0.00001
|
NM_007254.4(PNKP):c.1430T>C (p.Met477Thr)
|
rs766655539
|
0.00001
|
NM_007254.4(PNKP):c.1432G>A (p.Val478Ile)
|
rs796052857
|
0.00001
|
NM_007254.4(PNKP):c.1468A>G (p.Thr490Ala)
|
rs727504100
|
0.00001
|
NM_007254.4(PNKP):c.178C>G (p.Arg60Gly)
|
rs761948305
|
0.00001
|
NM_007254.4(PNKP):c.242C>T (p.Pro81Leu)
|
rs753940585
|
0.00001
|
NM_007254.4(PNKP):c.422G>A (p.Arg141Gln)
|
rs570013652
|
0.00001
|
NM_007254.4(PNKP):c.473C>T (p.Ala158Val)
|
rs372615308
|
0.00001
|
NM_007254.4(PNKP):c.602G>A (p.Arg201His)
|
rs150253619
|
0.00001
|
NM_007254.4(PNKP):c.625G>A (p.Glu209Lys)
|
rs773641701
|
0.00001
|
NM_007254.4(PNKP):c.634A>G (p.Lys212Glu)
|
rs762187891
|
0.00001
|
NM_007254.4(PNKP):c.713C>T (p.Ala238Val)
|
rs746166841
|
0.00001
|
NM_007254.4(PNKP):c.718G>A (p.Val240Met)
|
rs1315272571
|
0.00001
|
NM_007254.4(PNKP):c.758C>T (p.Thr253Met)
|
rs538161505
|
0.00001
|
NM_007254.4(PNKP):c.762C>T (p.His254=)
|
rs794727920
|
0.00001
|
NM_007254.4(PNKP):c.763G>A (p.Ala255Thr)
|
rs398124249
|
0.00001
|
NM_007254.4(PNKP):c.776G>A (p.Arg259Gln)
|
rs1358481768
|
0.00001
|
NM_007254.4(PNKP):c.788C>T (p.Thr263Met)
|
rs766704284
|
0.00001
|
NM_007254.4(PNKP):c.853A>G (p.Ile285Val)
|
rs750224965
|
0.00001
|
NM_007254.4(PNKP):c.868G>A (p.Ala290Thr)
|
rs1485940017
|
0.00001
|
NM_007254.4(PNKP):c.921C>A (p.Ser307=)
|
rs369985921
|
0.00001
|
NM_007254.4(PNKP):c.940G>A (p.Ala314Thr)
|
rs1381404753
|
0.00001
|
NM_007254.4(PNKP):c.-14+1G>T
|
rs796052854
|
|
NM_007254.4(PNKP):c.1003G>T (p.Gly335Cys)
|
rs768567927
|
|
NM_007254.4(PNKP):c.1019C>A (p.Ala340Asp)
|
|
|
NM_007254.4(PNKP):c.1029G>A (p.Pro343=)
|
rs796052853
|
|
NM_007254.4(PNKP):c.1043G>C (p.Arg348Pro)
|
rs781551273
|
|
NM_007254.4(PNKP):c.1098G>C (p.Glu366Asp)
|
rs755340060
|
|
NM_007254.4(PNKP):c.109C>A (p.Pro37Thr)
|
rs536541839
|
|
NM_007254.4(PNKP):c.1123G>C (p.Gly375Arg)
|
|
|
NM_007254.4(PNKP):c.1126+3_1126+6dup
|
|
|
NM_007254.4(PNKP):c.1126+5G>C
|
rs1385764453
|
|
NM_007254.4(PNKP):c.1165G>T (p.Ala389Ser)
|
rs575803996
|
|
NM_007254.4(PNKP):c.1168G>A (p.Gly390Arg)
|
rs761335711
|
|
NM_007254.4(PNKP):c.1170A>G (p.Gly390=)
|
rs1064796440
|
|
NM_007254.4(PNKP):c.1188+8del
|
rs763782151
|
|
NM_007254.4(PNKP):c.1217T>A (p.Val406Glu)
|
rs141938129
|
|
NM_007254.4(PNKP):c.123T>A (p.Val41=)
|
rs2122344769
|
|
NM_007254.4(PNKP):c.1295_1298+20dup
|
rs2074766354
|
|
NM_007254.4(PNKP):c.1298+7T>G
|
rs794727126
|
|
NM_007254.4(PNKP):c.130C>T (p.Arg44Trp)
|
rs374921362
|
|
NM_007254.4(PNKP):c.1360C>A (p.Leu454Met)
|
rs200611702
|
|
NM_007254.4(PNKP):c.1360C>G (p.Leu454Val)
|
rs200611702
|
|
NM_007254.4(PNKP):c.1365G>C (p.Glu455Asp)
|
rs929075083
|
|
NM_007254.4(PNKP):c.1376A>C (p.His459Pro)
|
|
|
NM_007254.4(PNKP):c.1381A>G (p.Asn461Asp)
|
rs775762473
|
|
NM_007254.4(PNKP):c.1385G>C (p.Arg462Pro)
|
rs376854895
|
|
NM_007254.4(PNKP):c.1387-39del
|
rs2122317908
|
|
NM_007254.4(PNKP):c.1391G>C (p.Arg464Pro)
|
rs377619541
|
|
NM_007254.4(PNKP):c.1395_1399dup (p.Thr467delinsArgTer)
|
rs1443873131
|
|
NM_007254.4(PNKP):c.1402G>A (p.Asp468Asn)
|
rs778647353
|
|
NM_007254.4(PNKP):c.1449G>C (p.Arg483Ser)
|
rs747689609
|
|
NM_007254.4(PNKP):c.1481G>A (p.Gly494Asp)
|
|
|
NM_007254.4(PNKP):c.1481G>T (p.Gly494Val)
|
rs1085307661
|
|
NM_007254.4(PNKP):c.149A>T (p.Gln50Leu)
|
|
|
NM_007254.4(PNKP):c.1510C>G (p.Arg504Gly)
|
rs148669160
|
|
NM_007254.4(PNKP):c.1510C>T (p.Arg504Trp)
|
rs148669160
|
|
NM_007254.4(PNKP):c.1510del (p.Arg504fs)
|
rs771489173
|
|
NM_007254.4(PNKP):c.1524G>C (p.Glu508Asp)
|
rs752776104
|
|
NM_007254.4(PNKP):c.1541_1548dup (p.Gln517fs)
|
rs1279136929
|
|
NM_007254.4(PNKP):c.1556C>G (p.Ser519Cys)
|
rs745801055
|
|
NM_007254.4(PNKP):c.203G>C (p.Gly68Ala)
|
rs796052864
|
|
NM_007254.4(PNKP):c.221C>A (p.Thr74Asn)
|
rs2122339313
|
|
NM_007254.4(PNKP):c.235T>G (p.Leu79Val)
|
rs796052849
|
|
NM_007254.4(PNKP):c.302C>T (p.Pro101Leu)
|
rs587784367
|
|
NM_007254.4(PNKP):c.30G>T (p.Leu10Phe)
|
rs376146751
|
|
NM_007254.4(PNKP):c.325A>T (p.Thr109Ser)
|
rs979192418
|
|
NM_007254.4(PNKP):c.352A>T (p.Thr118Ser)
|
rs1414544372
|
|
NM_007254.4(PNKP):c.406C>G (p.Pro136Ala)
|
rs759530456
|
|
NM_007254.4(PNKP):c.419T>C (p.Met140Thr)
|
rs1174754892
|
|
NM_007254.4(PNKP):c.41G>C (p.Ser14Thr)
|
rs749769775
|
|
NM_007254.4(PNKP):c.421C>T (p.Arg141Trp)
|
rs755037999
|
|
NM_007254.4(PNKP):c.42C>A (p.Ser14Arg)
|
rs751327913
|
|
NM_007254.4(PNKP):c.430A>G (p.Asn144Asp)
|
rs551774481
|
|
NM_007254.4(PNKP):c.472G>A (p.Ala158Thr)
|
rs767190474
|
|
NM_007254.4(PNKP):c.47C>A (p.Pro16His)
|
rs796052858
|
|
NM_007254.4(PNKP):c.499-5A>G
|
rs886042466
|
|
NM_007254.4(PNKP):c.538C>T (p.Arg180Cys)
|
rs3739185
|
|
NM_007254.4(PNKP):c.545G>A (p.Gly182Glu)
|
|
|
NM_007254.4(PNKP):c.578G>A (p.Arg193Lys)
|
rs1056754589
|
|
NM_007254.4(PNKP):c.589C>A (p.Pro197Thr)
|
rs201968000
|
|
NM_007254.4(PNKP):c.58C>A (p.Pro20Thr)
|
rs3739168
|
|
NM_007254.4(PNKP):c.640G>C (p.Val214Leu)
|
|
|
NM_007254.4(PNKP):c.662G>A (p.Ser221Asn)
|
|
|
NM_007254.4(PNKP):c.666C>G (p.Ile222Met)
|
rs587784369
|
|
NM_007254.4(PNKP):c.668G>T (p.Gly223Val)
|
rs796052851
|
|
NM_007254.4(PNKP):c.68T>G (p.Phe23Cys)
|
rs2122345011
|
|
NM_007254.4(PNKP):c.737C>A (p.Pro246His)
|
|
|
NM_007254.4(PNKP):c.754G>T (p.Ala252Ser)
|
rs1555811378
|
|
NM_007254.4(PNKP):c.767G>A (p.Gly256Asp)
|
rs796052852
|
|
NM_007254.4(PNKP):c.773A>G (p.Tyr258Cys)
|
|
|
NM_007254.4(PNKP):c.787A>T (p.Thr263Ser)
|
|
|
NM_007254.4(PNKP):c.816G>T (p.Gln272His)
|
|
|
NM_007254.4(PNKP):c.817-5C>G
|
rs398124250
|
|
NM_007254.4(PNKP):c.826G>A (p.Gly276Ser)
|
rs746254179
|
|
NM_007254.4(PNKP):c.83G>A (p.Gly28Glu)
|
rs771064093
|
|
NM_007254.4(PNKP):c.845G>A (p.Gly282Glu)
|
rs398124251
|
|
NM_007254.4(PNKP):c.865+9C>T
|
rs1555811201
|
|
NM_007254.4(PNKP):c.884C>T (p.Ala295Val)
|
rs753695701
|
|
NM_007254.4(PNKP):c.920C>T (p.Ser307Phe)
|
rs1555811168
|
|
NM_007254.4(PNKP):c.920_922del (p.Ser307del)
|
rs886042225
|
|
NM_007254.4(PNKP):c.931C>T (p.Arg311Cys)
|
rs755967508
|
|
NM_007254.4(PNKP):c.932G>C (p.Arg311Pro)
|
rs372435922
|
|
NM_007254.4(PNKP):c.937-11_937-10del
|
rs769234730
|
|
Single allele
|
|
|