NM_007254.4(PNKP):c.1189-10del
|
rs3739205
|
0.02593
|
NM_007254.4(PNKP):c.58C>T (p.Pro20Ser)
|
rs3739168
|
0.00946
|
NM_007254.4(PNKP):c.1127-8C>T
|
rs3739203
|
0.00901
|
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.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.636+7G>A
|
rs3739187
|
0.00154
|
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.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.876A>G (p.Gly292=)
|
rs3739199
|
0.00033
|
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.994C>T (p.Pro332Ser)
|
rs373922574
|
0.00010
|
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.1302C>T (p.Tyr434=)
|
rs747244348
|
0.00003
|
NM_007254.4(PNKP):c.1322C>G (p.Ala441Gly)
|
rs549000007
|
0.00003
|
NM_007254.4(PNKP):c.1559A>G (p.Glu520Gly)
|
rs886043128
|
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.673G>A (p.Gly225Arg)
|
rs144257114
|
0.00002
|
NM_007254.4(PNKP):c.1125G>A (p.Gly375=)
|
rs727504101
|
0.00001
|
NM_007254.4(PNKP):c.1210C>T (p.Arg404Cys)
|
rs768304312
|
0.00001
|
NM_007254.4(PNKP):c.1430T>C (p.Met477Thr)
|
rs766655539
|
0.00001
|
NM_007254.4(PNKP):c.1468A>G (p.Thr490Ala)
|
rs727504100
|
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.762C>T (p.His254=)
|
rs794727920
|
0.00001
|
NM_007254.4(PNKP):c.763G>A (p.Ala255Thr)
|
rs398124249
|
0.00001
|
NM_007254.4(PNKP):c.853A>G (p.Ile285Val)
|
rs750224965
|
0.00001
|
NM_007254.4(PNKP):c.921C>A (p.Ser307=)
|
rs369985921
|
0.00001
|
NM_007254.4(PNKP):c.1253_1269dup (p.Thr424fs)
|
rs587784365
|
|
NM_007254.4(PNKP):c.1286_1298+6dup
|
rs760249644
|
|
NM_007254.4(PNKP):c.1295_1298+6del
|
rs587784366
|
|
NM_007254.4(PNKP):c.1298+7T>G
|
rs794727126
|
|
NM_007254.4(PNKP):c.1317_1321dup (p.Ala441fs)
|
rs796052862
|
|
NM_007254.4(PNKP):c.1360C>A (p.Leu454Met)
|
rs200611702
|
|
NM_007254.4(PNKP):c.1385G>A (p.Arg462Gln)
|
rs376854895
|
|
NM_007254.4(PNKP):c.1556C>G (p.Ser519Cys)
|
rs745801055
|
|
NM_007254.4(PNKP):c.302C>T (p.Pro101Leu)
|
rs587784367
|
|
NM_007254.4(PNKP):c.499-5A>G
|
rs886042466
|
|
NM_007254.4(PNKP):c.538C>A (p.Arg180Ser)
|
rs3739185
|
|
NM_007254.4(PNKP):c.666C>G (p.Ile222Met)
|
rs587784369
|
|
NM_007254.4(PNKP):c.754G>T (p.Ala252Ser)
|
rs1555811378
|
|
NM_007254.4(PNKP):c.817-5C>G
|
rs398124250
|
|
NM_007254.4(PNKP):c.845G>A (p.Gly282Glu)
|
rs398124251
|
|
NM_007254.4(PNKP):c.865+9C>T
|
rs1555811201
|
|
NM_007254.4(PNKP):c.920C>T (p.Ser307Phe)
|
rs1555811168
|
|
NM_007254.4(PNKP):c.920_922del (p.Ser307del)
|
rs886042225
|
|