NM_007254.4(PNKP):c.586T>A (p.Tyr196Asn)
|
rs3739186
|
0.01081
|
NM_007254.4(PNKP):c.58C>T (p.Pro20Ser)
|
rs3739168
|
0.00946
|
NM_007254.4(PNKP):c.*15C>T
|
rs1050332
|
0.00609
|
NM_007254.4(PNKP):c.1032G>A (p.Arg344=)
|
rs185452809
|
0.00406
|
NM_007254.4(PNKP):c.783G>A (p.Pro261=)
|
rs145307985
|
0.00353
|
NM_007254.4(PNKP):c.939T>C (p.Phe313=)
|
rs149731642
|
0.00290
|
NM_007254.4(PNKP):c.1522G>A (p.Glu508Lys)
|
rs146478958
|
0.00280
|
NM_007254.4(PNKP):c.1497G>A (p.Leu499=)
|
rs142199280
|
0.00232
|
NM_007254.4(PNKP):c.579G>A (p.Arg193=)
|
rs145904995
|
0.00205
|
NM_007254.4(PNKP):c.416G>A (p.Arg139His)
|
rs34472250
|
0.00185
|
NM_007254.4(PNKP):c.1433T>G (p.Val478Gly)
|
rs3739206
|
0.00181
|
NM_007254.4(PNKP):c.1491C>T (p.Ala497=)
|
rs116192442
|
0.00133
|
NM_007254.4(PNKP):c.831G>A (p.Thr277=)
|
rs148491228
|
0.00128
|
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.1557C>T (p.Ser519=)
|
rs142180374
|
0.00051
|
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.876A>G (p.Gly292=)
|
rs3739199
|
0.00033
|
NM_007254.4(PNKP):c.671G>A (p.Arg224His)
|
rs199705876
|
0.00025
|
NM_007254.4(PNKP):c.678G>A (p.Lys226=)
|
rs141969535
|
0.00021
|
NM_007254.4(PNKP):c.1281C>T (p.Asp427=)
|
rs770775129
|
0.00019
|
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.1412A>T (p.His471Leu)
|
rs142032281
|
0.00015
|
NM_007254.4(PNKP):c.1257C>T (p.Val419=)
|
rs369003964
|
0.00013
|
NM_007254.4(PNKP):c.1298+2_1298+5dup
|
rs776617733
|
0.00013
|
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.1211G>A (p.Arg404His)
|
rs549069697
|
0.00012
|
NM_007254.4(PNKP):c.275C>T (p.Thr92Ile)
|
rs780440711
|
0.00010
|
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.1515A>G (p.Leu505=)
|
rs369748873
|
0.00007
|
NM_007254.4(PNKP):c.1009G>C (p.Glu337Gln)
|
rs780121125
|
0.00006
|
NM_007254.4(PNKP):c.1397T>C (p.Met466Thr)
|
rs145886749
|
0.00006
|
NM_007254.4(PNKP):c.968C>T (p.Thr323Met)
|
rs372148913
|
0.00005
|
NM_007254.4(PNKP):c.1123G>T (p.Gly375Trp)
|
rs786203983
|
0.00004
|
NM_007254.4(PNKP):c.1324G>A (p.Gly442Ser)
|
rs372459137
|
0.00004
|
NM_007254.4(PNKP):c.1401G>A (p.Thr467=)
|
rs374547164
|
0.00004
|
NM_007254.4(PNKP):c.603dup (p.Lys202Ter)
|
rs796052859
|
0.00004
|
NM_007254.4(PNKP):c.1302C>T (p.Tyr434=)
|
rs747244348
|
0.00003
|
NM_007254.4(PNKP):c.1322C>G (p.Ala441Gly)
|
rs549000007
|
0.00003
|
NM_007254.4(PNKP):c.1482C>T (p.Gly494=)
|
rs60279874
|
0.00003
|
NM_007254.4(PNKP):c.403C>T (p.Leu135=)
|
rs766739774
|
0.00003
|
NM_007254.4(PNKP):c.1120C>T (p.Pro374Ser)
|
rs760583725
|
0.00002
|
NM_007254.4(PNKP):c.248T>C (p.Leu83Ser)
|
rs756169949
|
0.00002
|
NM_007254.4(PNKP):c.673G>A (p.Gly225Arg)
|
rs144257114
|
0.00002
|
NM_007254.4(PNKP):c.687C>T (p.Ala229=)
|
rs776236270
|
0.00002
|
NM_007254.4(PNKP):c.865+1G>A
|
rs762003634
|
0.00002
|
NM_007254.4(PNKP):c.1048G>C (p.Gly350Arg)
|
rs750098786
|
0.00001
|
NM_007254.4(PNKP):c.1052C>T (p.Pro351Leu)
|
rs797045891
|
0.00001
|
NM_007254.4(PNKP):c.1129G>A (p.Gly377Arg)
|
rs777457079
|
0.00001
|
NM_007254.4(PNKP):c.1210C>T (p.Arg404Cys)
|
rs768304312
|
0.00001
|
NM_007254.4(PNKP):c.1233A>G (p.Thr411=)
|
rs1057522305
|
0.00001
|
NM_007254.4(PNKP):c.1255G>A (p.Val419Ile)
|
rs756416098
|
0.00001
|
NM_007254.4(PNKP):c.125C>G (p.Thr42Arg)
|
rs750026030
|
0.00001
|
NM_007254.4(PNKP):c.1323G>A (p.Ala441=)
|
rs778138676
|
0.00001
|
NM_007254.4(PNKP):c.1384C>T (p.Arg462Trp)
|
rs778893834
|
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.1551G>A (p.Gln517=)
|
rs771913446
|
0.00001
|
NM_007254.4(PNKP):c.178C>G (p.Arg60Gly)
|
rs761948305
|
0.00001
|
NM_007254.4(PNKP):c.267G>T (p.Val89=)
|
rs531640505
|
0.00001
|
NM_007254.4(PNKP):c.329G>A (p.Arg110His)
|
rs867937617
|
0.00001
|
NM_007254.4(PNKP):c.422G>A (p.Arg141Gln)
|
rs570013652
|
0.00001
|
NM_007254.4(PNKP):c.564C>T (p.Gly188=)
|
rs574408360
|
0.00001
|
NM_007254.4(PNKP):c.56C>T (p.Ala19Val)
|
rs201258910
|
0.00001
|
NM_007254.4(PNKP):c.625G>A (p.Glu209Lys)
|
rs773641701
|
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.897G>A (p.Pro299=)
|
rs767771095
|
0.00001
|
NM_007254.4(PNKP):c.987C>T (p.Leu329=)
|
rs150644303
|
0.00001
|
NM_007254.4(PNKP):c.101G>T (p.Gly34Val)
|
|
|
NM_007254.4(PNKP):c.1060C>T (p.Leu354Phe)
|
|
|
NM_007254.4(PNKP):c.1098G>C (p.Glu366Asp)
|
rs755340060
|
|
NM_007254.4(PNKP):c.1154A>T (p.His385Leu)
|
|
|
NM_007254.4(PNKP):c.1156C>T (p.Leu386Phe)
|
rs1568659595
|
|
NM_007254.4(PNKP):c.1189-3C>T
|
rs1568659329
|
|
NM_007254.4(PNKP):c.1236C>T (p.Ala412=)
|
rs1060504641
|
|
NM_007254.4(PNKP):c.1253_1269dup (p.Thr424fs)
|
rs587784365
|
|
NM_007254.4(PNKP):c.1255_1258dup (p.Ala420fs)
|
rs768847609
|
|
NM_007254.4(PNKP):c.1278_1291del (p.Asp427fs)
|
rs764379536
|
|
NM_007254.4(PNKP):c.1286_1298+6dup
|
rs760249644
|
|
NM_007254.4(PNKP):c.1288_1294dup (p.Ala432fs)
|
rs796052860
|
|
NM_007254.4(PNKP):c.1291C>T (p.Arg431Cys)
|
|
|
NM_007254.4(PNKP):c.1299-5C>A
|
|
|
NM_007254.4(PNKP):c.1317_1321dup (p.Ala441fs)
|
rs796052862
|
|
NM_007254.4(PNKP):c.1326C>T (p.Gly442=)
|
rs1159488769
|
|
NM_007254.4(PNKP):c.1358C>A (p.Thr453Asn)
|
rs1455514180
|
|
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.1381A>G (p.Asn461Asp)
|
rs775762473
|
|
NM_007254.4(PNKP):c.1385G>A (p.Arg462Gln)
|
rs376854895
|
|
NM_007254.4(PNKP):c.1385G>C (p.Arg462Pro)
|
rs376854895
|
|
NM_007254.4(PNKP):c.1412A>C (p.His471Pro)
|
rs142032281
|
|
NM_007254.4(PNKP):c.1420G>T (p.Val474Leu)
|
|
|
NM_007254.4(PNKP):c.1496T>C (p.Leu499Pro)
|
|
|
NM_007254.4(PNKP):c.1510C>G (p.Arg504Gly)
|
rs148669160
|
|
NM_007254.4(PNKP):c.178C>T (p.Arg60Trp)
|
rs761948305
|
|
NM_007254.4(PNKP):c.255C>T (p.Gly85=)
|
rs1568662321
|
|
NM_007254.4(PNKP):c.266T>C (p.Val89Ala)
|
|
|
NM_007254.4(PNKP):c.286G>C (p.Val96Leu)
|
|
|
NM_007254.4(PNKP):c.302C>T (p.Pro101Leu)
|
rs587784367
|
|
NM_007254.4(PNKP):c.310C>G (p.Leu104Val)
|
|
|
NM_007254.4(PNKP):c.386AGA[1] (p.Lys130del)
|
|
|
NM_007254.4(PNKP):c.394G>C (p.Asp132His)
|
rs1555811583
|
|
NM_007254.4(PNKP):c.408G>A (p.Pro136=)
|
rs770822417
|
|
NM_007254.4(PNKP):c.46C>G (p.Pro16Ala)
|
|
|
NM_007254.4(PNKP):c.470C>T (p.Thr157Ile)
|
|
|
NM_007254.4(PNKP):c.538C>A (p.Arg180Ser)
|
rs3739185
|
|
NM_007254.4(PNKP):c.538C>T (p.Arg180Cys)
|
rs3739185
|
|
NM_007254.4(PNKP):c.589C>A (p.Pro197Thr)
|
rs201968000
|
|
NM_007254.4(PNKP):c.615G>C (p.Glu205Asp)
|
|
|
NM_007254.4(PNKP):c.666C>G (p.Ile222Met)
|
rs587784369
|
|
NM_007254.4(PNKP):c.716T>C (p.Val239Ala)
|
rs1568661537
|
|
NM_007254.4(PNKP):c.722A>C (p.Glu241Ala)
|
|
|
NM_007254.4(PNKP):c.803A>G (p.His268Arg)
|
|
|
NM_007254.4(PNKP):c.81C>T (p.Asp27=)
|
rs1226961947
|
|
NM_007254.4(PNKP):c.821_841del (p.Asn274_Ser280del)
|
rs1555811217
|
|
NM_007254.4(PNKP):c.824A>G (p.Asp275Gly)
|
rs1470797052
|
|
NM_007254.4(PNKP):c.855C>G (p.Ile285Met)
|
|
|
NM_007254.4(PNKP):c.928G>C (p.Asp310His)
|
|
|
NM_007254.4(PNKP):c.937-2A>G
|
rs1568660279
|
|
NM_007254.4(PNKP):c.973GAG[1] (p.Glu326del)
|
|
|
NM_007254.4(PNKP):c.991T>C (p.Trp331Arg)
|
|
|