NM_006254.4(PRKCD):c.1857T>C (p.Pro619=)
|
rs900495
|
0.94337
|
NM_006254.4(PRKCD):c.1782C>G (p.Thr594=)
|
rs1075865
|
0.93819
|
NM_006254.4(PRKCD):c.1441C>T (p.Leu481=)
|
rs2306574
|
0.75510
|
NM_006254.4(PRKCD):c.1743+29T>G
|
rs7630600
|
0.74353
|
NM_006254.4(PRKCD):c.115+21C>G
|
rs2306571
|
0.65337
|
NM_006254.4(PRKCD):c.1119G>A (p.Glu373=)
|
rs2230494
|
0.29106
|
NM_006254.4(PRKCD):c.180T>C (p.Asp60=)
|
rs2230493
|
0.12323
|
NM_006254.4(PRKCD):c.1260+19G>A
|
rs41275531
|
0.10858
|
NM_006254.4(PRKCD):c.741C>T (p.Cys247=)
|
rs55709737
|
0.00741
|
NM_006254.4(PRKCD):c.214G>C (p.Val72Leu)
|
rs151061939
|
0.00535
|
NM_006254.4(PRKCD):c.1554+8G>A
|
rs141412493
|
0.00429
|
NM_006254.4(PRKCD):c.1260+6C>T
|
rs180706867
|
0.00270
|
NM_006254.4(PRKCD):c.603C>T (p.Ile201=)
|
rs75794462
|
0.00108
|
NM_006254.4(PRKCD):c.1415+19C>T
|
rs202080219
|
0.00105
|
NM_006254.4(PRKCD):c.315+9C>A
|
rs200076653
|
0.00078
|
NM_006254.4(PRKCD):c.1043A>G (p.Asn348Ser)
|
rs33911937
|
0.00064
|
NM_006254.4(PRKCD):c.1447C>T (p.Arg483Trp)
|
rs35891605
|
0.00063
|
NM_006254.4(PRKCD):c.539+13C>T
|
rs200442846
|
0.00058
|
NM_006254.4(PRKCD):c.1705C>T (p.Arg569Cys)
|
rs141992569
|
0.00055
|
NM_006254.4(PRKCD):c.1362C>T (p.Ala454=)
|
rs41295962
|
0.00050
|
NM_006254.4(PRKCD):c.1500C>T (p.Phe500=)
|
rs149751382
|
0.00046
|
NM_006254.4(PRKCD):c.1415+7G>C
|
rs78905675
|
0.00043
|
NM_006254.4(PRKCD):c.68C>T (p.Ala23Val)
|
rs144572650
|
0.00041
|
NM_006254.4(PRKCD):c.787+14C>T
|
rs376532118
|
0.00041
|
NM_006254.4(PRKCD):c.1213G>A (p.Ala405Thr)
|
rs150331740
|
0.00040
|
NM_006254.4(PRKCD):c.1743+8C>T
|
rs182290450
|
0.00038
|
NM_006254.4(PRKCD):c.1244G>A (p.Cys415Tyr)
|
rs35181307
|
0.00036
|
NM_006254.4(PRKCD):c.1691C>T (p.Thr564Met)
|
rs146289210
|
0.00030
|
NM_006254.4(PRKCD):c.395G>A (p.Arg132His)
|
rs200939049
|
0.00029
|
NM_006254.4(PRKCD):c.948C>T (p.Phe316=)
|
rs138049008
|
0.00021
|
NM_006254.4(PRKCD):c.1352+4C>T
|
rs202155309
|
0.00019
|
NM_006254.4(PRKCD):c.377-12C>T
|
rs181439333
|
0.00019
|
NM_006254.4(PRKCD):c.658-5_658-2dup
|
rs782574122
|
0.00014
|
NM_006254.4(PRKCD):c.657+15G>A
|
rs190144895
|
0.00013
|
NM_006254.4(PRKCD):c.899G>A (p.Arg300Gln)
|
rs143488209
|
0.00012
|
NM_006254.4(PRKCD):c.1167C>T (p.Asp389=)
|
rs781931484
|
0.00011
|
NM_006254.4(PRKCD):c.1260+7G>A
|
rs374605708
|
0.00011
|
NM_006254.4(PRKCD):c.1554+13C>T
|
rs551694897
|
0.00010
|
NM_006254.4(PRKCD):c.1470C>T (p.Ala490=)
|
rs781875657
|
0.00009
|
NM_006254.4(PRKCD):c.1706G>A (p.Arg569His)
|
rs138712106
|
0.00009
|
NM_006254.4(PRKCD):c.597A>G (p.Lys199=)
|
rs74558112
|
0.00009
|
NM_006254.4(PRKCD):c.787+4C>T
|
rs575167797
|
0.00009
|
NM_006254.4(PRKCD):c.949G>A (p.Glu317Lys)
|
rs55929201
|
0.00009
|
NM_006254.4(PRKCD):c.1299G>A (p.Gly433=)
|
rs200890839
|
0.00008
|
NM_006254.4(PRKCD):c.1341C>T (p.Leu447=)
|
rs782659087
|
0.00007
|
NM_006254.4(PRKCD):c.1212C>T (p.Ala404=)
|
rs200149825
|
0.00006
|
NM_006254.4(PRKCD):c.315+10G>A
|
rs782548097
|
0.00006
|
NM_006254.4(PRKCD):c.636G>A (p.Ala212=)
|
rs200410934
|
0.00006
|
NM_006254.4(PRKCD):c.945T>C (p.Gly315=)
|
rs781846856
|
0.00006
|
NM_006254.4(PRKCD):c.961G>A (p.Gly321Arg)
|
rs372047510
|
0.00006
|
NM_006254.4(PRKCD):c.1293C>T (p.Asn431=)
|
rs377107086
|
0.00005
|
NM_006254.4(PRKCD):c.1692G>A (p.Thr564=)
|
rs564128768
|
0.00005
|
NM_006254.4(PRKCD):c.267G>A (p.Ser89=)
|
rs782214291
|
0.00005
|
NM_006254.4(PRKCD):c.115+14C>G
|
rs781949983
|
0.00004
|
NM_006254.4(PRKCD):c.1671C>T (p.Phe557=)
|
rs147601598
|
0.00004
|
NM_006254.4(PRKCD):c.1743+14G>A
|
rs377684585
|
0.00004
|
NM_006254.4(PRKCD):c.174G>A (p.Thr58=)
|
rs55719519
|
0.00004
|
NM_006254.4(PRKCD):c.217C>T (p.Leu73=)
|
rs782144950
|
0.00004
|
NM_006254.4(PRKCD):c.240A>G (p.Pro80=)
|
rs781855123
|
0.00004
|
NM_006254.4(PRKCD):c.44G>C (p.Gly15Ala)
|
rs369358922
|
0.00004
|
NM_006254.4(PRKCD):c.579C>T (p.Asn193=)
|
rs781809625
|
0.00004
|
NM_006254.4(PRKCD):c.693C>T (p.His231=)
|
rs982499152
|
0.00004
|
NM_006254.4(PRKCD):c.960C>T (p.Thr320=)
|
rs143202454
|
0.00004
|
NM_006254.4(PRKCD):c.1002C>T (p.Tyr334=)
|
rs546426559
|
0.00003
|
NM_006254.4(PRKCD):c.1156C>T (p.Leu386=)
|
rs374287889
|
0.00003
|
NM_006254.4(PRKCD):c.1342T>A (p.Tyr448Asn)
|
rs141979341
|
0.00003
|
NM_006254.4(PRKCD):c.1554+7C>T
|
rs370247870
|
0.00003
|
NM_006254.4(PRKCD):c.1555-6C>T
|
rs370593377
|
0.00003
|
NM_006254.4(PRKCD):c.1617C>T (p.Tyr539=)
|
rs375360762
|
0.00003
|
NM_006254.4(PRKCD):c.177C>T (p.Phe59=)
|
rs369306770
|
0.00003
|
NM_006254.4(PRKCD):c.405C>T (p.Asp135=)
|
rs200462015
|
0.00003
|
NM_006254.4(PRKCD):c.539+9C>T
|
rs77075429
|
0.00003
|
NM_006254.4(PRKCD):c.571+15A>C
|
rs781967950
|
0.00003
|
NM_006254.4(PRKCD):c.633C>T (p.Thr211=)
|
rs372745352
|
0.00003
|
NM_006254.4(PRKCD):c.63C>T (p.Asp21=)
|
rs369037399
|
0.00003
|
NM_006254.4(PRKCD):c.657+11G>C
|
rs781971358
|
0.00003
|
NM_006254.4(PRKCD):c.657+3G>A
|
rs199785209
|
0.00003
|
NM_006254.4(PRKCD):c.715A>G (p.Met239Val)
|
rs369236318
|
0.00003
|
NM_006254.4(PRKCD):c.799A>C (p.Asn267His)
|
rs1371733624
|
0.00003
|
NM_006254.4(PRKCD):c.915C>T (p.Ala305=)
|
rs201862364
|
0.00003
|
NM_006254.4(PRKCD):c.1060G>A (p.Val354Ile)
|
rs782601434
|
0.00002
|
NM_006254.4(PRKCD):c.1086+16C>T
|
rs373350409
|
0.00002
|
NM_006254.4(PRKCD):c.116-17del
|
rs1553666741
|
0.00002
|
NM_006254.4(PRKCD):c.1206A>G (p.Thr402=)
|
rs74485893
|
0.00002
|
NM_006254.4(PRKCD):c.1415+9G>A
|
rs782267237
|
0.00002
|
NM_006254.4(PRKCD):c.1491G>T (p.Glu497Asp)
|
rs781785325
|
0.00002
|
NM_006254.4(PRKCD):c.1511G>A (p.Arg504Gln)
|
rs781836069
|
0.00002
|
NM_006254.4(PRKCD):c.1744-7G>A
|
rs372537259
|
0.00002
|
NM_006254.4(PRKCD):c.255C>T (p.Thr85=)
|
rs782661116
|
0.00002
|
NM_006254.4(PRKCD):c.300C>A (p.Gly100=)
|
rs782734100
|
0.00002
|
NM_006254.4(PRKCD):c.315+16G>A
|
rs782245021
|
0.00002
|
NM_006254.4(PRKCD):c.435C>T (p.Arg145=)
|
rs782029128
|
0.00002
|
NM_006254.4(PRKCD):c.539+10G>A
|
rs1437629018
|
0.00002
|
NM_006254.4(PRKCD):c.57C>T (p.Ala19=)
|
rs377115507
|
0.00002
|
NM_006254.4(PRKCD):c.604G>A (p.Asp202Asn)
|
rs149165175
|
0.00002
|
NM_006254.4(PRKCD):c.647G>A (p.Arg216Gln)
|
rs782428011
|
0.00002
|
NM_006254.4(PRKCD):c.840C>T (p.Cys280=)
|
rs145324216
|
0.00002
|
NM_006254.4(PRKCD):c.864T>C (p.Ala288=)
|
rs782535622
|
0.00002
|
NM_006254.4(PRKCD):c.889-9C>T
|
rs782612523
|
0.00002
|
NM_006254.4(PRKCD):c.986-7C>T
|
rs781918067
|
0.00002
|
NM_006254.4(PRKCD):c.1036A>G (p.Ile346Val)
|
rs1434557148
|
0.00001
|
NM_006254.4(PRKCD):c.1051T>G (p.Phe351Val)
|
rs782444193
|
0.00001
|
NM_006254.4(PRKCD):c.1086+9T>C
|
rs1486351156
|
0.00001
|
NM_006254.4(PRKCD):c.1123T>G (p.Phe375Val)
|
rs1003630344
|
0.00001
|
NM_006254.4(PRKCD):c.115+9G>A
|
rs782712864
|
0.00001
|
NM_006254.4(PRKCD):c.1176G>A (p.Glu392=)
|
rs782735766
|
0.00001
|
NM_006254.4(PRKCD):c.1184T>C (p.Met395Thr)
|
rs1010140622
|
0.00001
|
NM_006254.4(PRKCD):c.1231A>G (p.Thr411Ala)
|
rs1553669078
|
0.00001
|
NM_006254.4(PRKCD):c.1260+16G>C
|
rs1553669090
|
0.00001
|
NM_006254.4(PRKCD):c.1353-20T>C
|
rs1553669452
|
0.00001
|
NM_006254.4(PRKCD):c.1376G>A (p.Cys459Tyr)
|
rs1553669478
|
0.00001
|
NM_006254.4(PRKCD):c.140A>G (p.Lys47Arg)
|
rs1553666756
|
0.00001
|
NM_006254.4(PRKCD):c.1448G>A (p.Arg483Gln)
|
rs879255393
|
0.00001
|
NM_006254.4(PRKCD):c.1501G>T (p.Gly501Trp)
|
rs782726901
|
0.00001
|
NM_006254.4(PRKCD):c.1554+12C>T
|
rs201210965
|
0.00001
|
NM_006254.4(PRKCD):c.1555-5G>A
|
rs782208259
|
0.00001
|
NM_006254.4(PRKCD):c.1635G>A (p.Gln545=)
|
rs782122153
|
0.00001
|
NM_006254.4(PRKCD):c.1672G>A (p.Glu558Lys)
|
rs1575544853
|
0.00001
|
NM_006254.4(PRKCD):c.1726A>G (p.Lys576Glu)
|
rs782371398
|
0.00001
|
NM_006254.4(PRKCD):c.1727A>G (p.Lys576Arg)
|
rs782006621
|
0.00001
|
NM_006254.4(PRKCD):c.1744C>T (p.Leu582Phe)
|
rs781964037
|
0.00001
|
NM_006254.4(PRKCD):c.1791C>A (p.Ile597=)
|
rs782819653
|
0.00001
|
NM_006254.4(PRKCD):c.1840C>T (p.Arg614Trp)
|
rs606231297
|
0.00001
|
NM_006254.4(PRKCD):c.1844G>T (p.Arg615Met)
|
rs74838104
|
0.00001
|
NM_006254.4(PRKCD):c.195G>C (p.Glu65Asp)
|
rs1196790794
|
0.00001
|
NM_006254.4(PRKCD):c.202G>A (p.Val68Ile)
|
rs781950537
|
0.00001
|
NM_006254.4(PRKCD):c.21C>T (p.Ile7=)
|
rs373946656
|
0.00001
|
NM_006254.4(PRKCD):c.225G>C (p.Arg75=)
|
rs781815061
|
0.00001
|
NM_006254.4(PRKCD):c.22G>A (p.Ala8Thr)
|
rs368029897
|
0.00001
|
NM_006254.4(PRKCD):c.243G>C (p.Val81=)
|
rs782530190
|
0.00001
|
NM_006254.4(PRKCD):c.256G>A (p.Val86Met)
|
rs782298081
|
0.00001
|
NM_006254.4(PRKCD):c.264G>T (p.Val88=)
|
rs782433548
|
0.00001
|
NM_006254.4(PRKCD):c.268G>A (p.Val90Met)
|
rs1015113720
|
0.00001
|
NM_006254.4(PRKCD):c.276C>T (p.Ala92=)
|
rs782352450
|
0.00001
|
NM_006254.4(PRKCD):c.297T>A (p.Asn99Lys)
|
rs561142814
|
0.00001
|
NM_006254.4(PRKCD):c.377-10T>C
|
rs782061483
|
0.00001
|
NM_006254.4(PRKCD):c.384A>G (p.Lys128=)
|
rs1339098133
|
0.00001
|
NM_006254.4(PRKCD):c.394C>T (p.Arg132Cys)
|
rs375221270
|
0.00001
|
NM_006254.4(PRKCD):c.492C>A (p.Thr164=)
|
rs187146419
|
0.00001
|
NM_006254.4(PRKCD):c.531C>G (p.Asp177Glu)
|
rs1240610213
|
0.00001
|
NM_006254.4(PRKCD):c.540-18C>T
|
rs75301864
|
0.00001
|
NM_006254.4(PRKCD):c.549C>A (p.Asn183Lys)
|
rs1378624159
|
0.00001
|
NM_006254.4(PRKCD):c.567C>T (p.Cys189=)
|
rs150667829
|
0.00001
|
NM_006254.4(PRKCD):c.580G>A (p.Ala194Thr)
|
rs782475090
|
0.00001
|
NM_006254.4(PRKCD):c.584C>T (p.Ala195Val)
|
rs977894332
|
0.00001
|
NM_006254.4(PRKCD):c.5C>T (p.Ala2Val)
|
rs781958692
|
0.00001
|
NM_006254.4(PRKCD):c.615C>T (p.Ile205=)
|
rs782677594
|
0.00001
|
NM_006254.4(PRKCD):c.616G>A (p.Gly206Ser)
|
rs957946153
|
0.00001
|
NM_006254.4(PRKCD):c.631A>T (p.Thr211Ser)
|
rs1252661978
|
0.00001
|
NM_006254.4(PRKCD):c.635C>T (p.Ala212Val)
|
rs782237403
|
0.00001
|
NM_006254.4(PRKCD):c.64G>A (p.Glu22Lys)
|
rs1553666417
|
0.00001
|
NM_006254.4(PRKCD):c.652A>G (p.Thr218Ala)
|
rs1311722771
|
0.00001
|
NM_006254.4(PRKCD):c.678C>T (p.Asn226=)
|
rs78938657
|
0.00001
|
NM_006254.4(PRKCD):c.729C>T (p.Phe243=)
|
rs782340381
|
0.00001
|
NM_006254.4(PRKCD):c.742G>A (p.Gly248Ser)
|
rs144320413
|
0.00001
|
NM_006254.4(PRKCD):c.788-2A>G
|
rs1295207359
|
0.00001
|
NM_006254.4(PRKCD):c.792C>T (p.Cys264=)
|
rs1553668629
|
0.00001
|
NM_006254.4(PRKCD):c.793G>A (p.Gly265Ser)
|
rs373245386
|
0.00001
|
NM_006254.4(PRKCD):c.869C>T (p.Ala290Val)
|
rs1186631774
|
0.00001
|
NM_006254.4(PRKCD):c.884C>T (p.Thr295Ile)
|
rs782223934
|
0.00001
|
NM_006254.4(PRKCD):c.890G>A (p.Arg297Lys)
|
rs782243565
|
0.00001
|
NM_006254.4(PRKCD):c.894C>T (p.Ala298=)
|
rs782394276
|
0.00001
|
NM_006254.4(PRKCD):c.925C>G (p.Pro309Ala)
|
rs1703647874
|
0.00001
|
NM_006254.4(PRKCD):c.928G>A (p.Val310Ile)
|
rs773144753
|
0.00001
|
NM_006254.4(PRKCD):c.985+10G>T
|
rs781842377
|
0.00001
|
NM_006254.4(PRKCD):c.991A>G (p.Ser331Gly)
|
rs140359417
|
0.00001
|
NM_006254.4(PRKCD):c.9G>A (p.Pro3=)
|
rs1354110835
|
0.00001
|
NM_006254.4(PRKCD):c.1003G>A (p.Gly335Ser)
|
rs564822118
|
|
NM_006254.4(PRKCD):c.1017G>A (p.Glu339=)
|
|
|
NM_006254.4(PRKCD):c.1025G>T (p.Ser342Ile)
|
|
|
NM_006254.4(PRKCD):c.1029G>A (p.Lys343=)
|
rs2107276703
|
|
NM_006254.4(PRKCD):c.1034A>T (p.Asn345Ile)
|
|
|
NM_006254.4(PRKCD):c.1040A>G (p.Asn347Ser)
|
rs1553668944
|
|
NM_006254.4(PRKCD):c.1041C>A (p.Asn347Lys)
|
|
|
NM_006254.4(PRKCD):c.1047C>T (p.Phe349=)
|
|
|
NM_006254.4(PRKCD):c.1053C>T (p.Phe351=)
|
|
|
NM_006254.4(PRKCD):c.1059G>C (p.Lys353Asn)
|
|
|
NM_006254.4(PRKCD):c.105G>A (p.Ala35=)
|
rs141615361
|
|
NM_006254.4(PRKCD):c.105G>T (p.Ala35=)
|
|
|
NM_006254.4(PRKCD):c.1060G>C (p.Val354Leu)
|
rs782601434
|
|
NM_006254.4(PRKCD):c.1077C>T (p.Ser359=)
|
|
|
NM_006254.4(PRKCD):c.1080C>T (p.Phe360=)
|
|
|
NM_006254.4(PRKCD):c.1081G>A (p.Gly361Arg)
|
rs369078144
|
|
NM_006254.4(PRKCD):c.1083G>T (p.Gly361=)
|
|
|
NM_006254.4(PRKCD):c.1086+16_1086+26del
|
|
|
NM_006254.4(PRKCD):c.1086+17G>A
|
|
|
NM_006254.4(PRKCD):c.1086+20C>T
|
|
|
NM_006254.4(PRKCD):c.1087-12T>A
|
rs2107277347
|
|
NM_006254.4(PRKCD):c.1087-15G>A
|
|
|
NM_006254.4(PRKCD):c.1087-15G>T
|
|
|
NM_006254.4(PRKCD):c.1087-16C>T
|
|
|
NM_006254.4(PRKCD):c.1102C>A (p.Leu368Met)
|
|
|
NM_006254.4(PRKCD):c.1102C>G (p.Leu368Val)
|
|
|
NM_006254.4(PRKCD):c.1113A>G (p.Arg371=)
|
rs1257740596
|
|
NM_006254.4(PRKCD):c.1118A>G (p.Glu373Gly)
|
|
|
NM_006254.4(PRKCD):c.116-17G>A
|
|
|
NM_006254.4(PRKCD):c.116-7G>C
|
rs1703347409
|
|
NM_006254.4(PRKCD):c.1161C>T (p.Ile387=)
|
rs782384878
|
|
NM_006254.4(PRKCD):c.1164C>T (p.Asp388=)
|
|
|
NM_006254.4(PRKCD):c.1165G>A (p.Asp389Asn)
|
|
|
NM_006254.4(PRKCD):c.1170C>T (p.Asp390=)
|
|
|
NM_006254.4(PRKCD):c.1180A>G (p.Thr394Ala)
|
|
|
NM_006254.4(PRKCD):c.1182del (p.Met395fs)
|
|
|
NM_006254.4(PRKCD):c.1196G>C (p.Arg399Pro)
|
|
|
NM_006254.4(PRKCD):c.119G>A (p.Arg40His)
|
|
|
NM_006254.4(PRKCD):c.1201C>T (p.Leu401=)
|
rs2107277772
|
|
NM_006254.4(PRKCD):c.1211C>G (p.Ala404Gly)
|
rs782150167
|
|
NM_006254.4(PRKCD):c.1213G>T (p.Ala405Ser)
|
|
|
NM_006254.4(PRKCD):c.1233C>T (p.Thr411=)
|
|
|
NM_006254.4(PRKCD):c.1240A>C (p.Ile414Leu)
|
|
|
NM_006254.4(PRKCD):c.1260+19_1260+34dup
|
|
|
NM_006254.4(PRKCD):c.1260+3G>T
|
|
|
NM_006254.4(PRKCD):c.1261-14C>A
|
|
|
NM_006254.4(PRKCD):c.1269G>A (p.Leu423=)
|
rs781864780
|
|
NM_006254.4(PRKCD):c.1292A>G (p.Asn431Ser)
|
|
|
NM_006254.4(PRKCD):c.1294G>A (p.Gly432Arg)
|
rs1190070838
|
|
NM_006254.4(PRKCD):c.1296G>T (p.Gly432=)
|
rs781784839
|
|
NM_006254.4(PRKCD):c.1300dup (p.Asp434fs)
|
rs1559629912
|
|
NM_006254.4(PRKCD):c.1301del (p.Asp434fs)
|
rs781824115
|
|
NM_006254.4(PRKCD):c.1306A>T (p.Met436Leu)
|
rs1439886101
|
|
NM_006254.4(PRKCD):c.1329C>T (p.Gly443=)
|
rs1018675596
|
|
NM_006254.4(PRKCD):c.1330C>T (p.Arg444Cys)
|
|
|
NM_006254.4(PRKCD):c.1331G>A (p.Arg444His)
|
|
|
NM_006254.4(PRKCD):c.1332C>A (p.Arg444=)
|
|
|
NM_006254.4(PRKCD):c.1345C>T (p.Arg449Cys)
|
rs1575542392
|
|
NM_006254.4(PRKCD):c.1352+1G>A
|
rs398122958
|
|
NM_006254.4(PRKCD):c.1353-11C>T
|
|
|
NM_006254.4(PRKCD):c.1353-16C>A
|
|
|
NM_006254.4(PRKCD):c.1353-4C>T
|
rs782614340
|
|
NM_006254.4(PRKCD):c.1353-8_1353-7del
|
rs2107281087
|
|
NM_006254.4(PRKCD):c.1384C>T (p.Gln462Ter)
|
rs1553669486
|
|
NM_006254.4(PRKCD):c.1396A>G (p.Ser466Gly)
|
|
|
NM_006254.4(PRKCD):c.139AAG[1] (p.Lys48del)
|
rs2107256592
|
|
NM_006254.4(PRKCD):c.140A>C (p.Lys47Thr)
|
rs1553666756
|
|
NM_006254.4(PRKCD):c.1415+11G>C
|
rs1703747131
|
|
NM_006254.4(PRKCD):c.1415+4C>T
|
|
|
NM_006254.4(PRKCD):c.1415+5G>A
|
|
|
NM_006254.4(PRKCD):c.141G>C (p.Lys47Asn)
|
|
|
NM_006254.4(PRKCD):c.1433A>G (p.Asn478Ser)
|
|
|
NM_006254.4(PRKCD):c.1439T>C (p.Leu480Pro)
|
rs1703806197
|
|
NM_006254.4(PRKCD):c.1450G>A (p.Asp484Asn)
|
rs1703807403
|
|
NM_006254.4(PRKCD):c.1458C>T (p.His486=)
|
rs1553670016
|
|
NM_006254.4(PRKCD):c.1469C>T (p.Ala490Val)
|
|
|
NM_006254.4(PRKCD):c.1501G>A (p.Gly501Arg)
|
|
|
NM_006254.4(PRKCD):c.1510C>A (p.Arg504=)
|
|
|
NM_006254.4(PRKCD):c.1511G>T (p.Arg504Leu)
|
|
|
NM_006254.4(PRKCD):c.1515C>T (p.Ala505=)
|
|
|
NM_006254.4(PRKCD):c.151A>G (p.Met51Val)
|
|
|
NM_006254.4(PRKCD):c.1528G>A (p.Gly510Ser)
|
rs606231296
|
|
NM_006254.4(PRKCD):c.1554+14C>G
|
|
|
NM_006254.4(PRKCD):c.1554+8G>C
|
rs141412493
|
|
NM_006254.4(PRKCD):c.1555-12C>A
|
|
|
NM_006254.4(PRKCD):c.1555-14C>G
|
|
|
NM_006254.4(PRKCD):c.1555-17G>A
|
rs2107285944
|
|
NM_006254.4(PRKCD):c.1566C>T (p.Gly522=)
|
|
|
NM_006254.4(PRKCD):c.1569G>A (p.Leu523=)
|
|
|
NM_006254.4(PRKCD):c.1602C>T (p.Phe534=)
|
|
|
NM_006254.4(PRKCD):c.1637C>A (p.Ser546Tyr)
|
|
|
NM_006254.4(PRKCD):c.1637C>T (p.Ser546Phe)
|
rs1703824527
|
|
NM_006254.4(PRKCD):c.1641C>G (p.Pro547=)
|
|
|
NM_006254.4(PRKCD):c.1652A>G (p.Asp551Gly)
|
rs1703825504
|
|
NM_006254.4(PRKCD):c.1702C>T (p.Pro568Ser)
|
rs1703828073
|
|
NM_006254.4(PRKCD):c.1707C>G (p.Arg569=)
|
rs1575544912
|
|
NM_006254.4(PRKCD):c.170C>T (p.Ser57Leu)
|
rs913175157
|
|
NM_006254.4(PRKCD):c.171G>A (p.Ser57=)
|
|
|
NM_006254.4(PRKCD):c.1722G>T (p.Glu574Asp)
|
rs2107286422
|
|
NM_006254.4(PRKCD):c.1729G>A (p.Asp577Asn)
|
|
|
NM_006254.4(PRKCD):c.1743+10CTGGG[4]
|
rs1192292366
|
|
NM_006254.4(PRKCD):c.1743+10CTGGG[5]
|
|
|
NM_006254.4(PRKCD):c.1743+20C>T
|
|
|
NM_006254.4(PRKCD):c.1743+29_1743+38del
|
rs782221968
|
|
NM_006254.4(PRKCD):c.1743+29_1743+43del
|
rs782585539
|
|
NM_006254.4(PRKCD):c.1743+2T>A
|
|
|
NM_006254.4(PRKCD):c.1743+9C>T
|
|
|
NM_006254.4(PRKCD):c.1744-18G>T
|
|
|
NM_006254.4(PRKCD):c.1744-20G>C
|
|
|
NM_006254.4(PRKCD):c.1763C>G (p.Thr588Ser)
|
rs1703859591
|
|
NM_006254.4(PRKCD):c.1776A>C (p.Gly592=)
|
|
|
NM_006254.4(PRKCD):c.1781_1782delinsTG (p.Thr594Met)
|
rs1575545467
|
|
NM_006254.4(PRKCD):c.1784G>A (p.Gly595Glu)
|
rs1352945164
|
|
NM_006254.4(PRKCD):c.1788C>T (p.Asn596=)
|
rs1703861452
|
|
NM_006254.4(PRKCD):c.1797C>G (p.Ile599Met)
|
|
|
NM_006254.4(PRKCD):c.1801C>G (p.Pro601Ala)
|
rs1703861977
|
|
NM_006254.4(PRKCD):c.1805T>C (p.Phe602Ser)
|
|
|
NM_006254.4(PRKCD):c.1822T>C (p.Trp608Arg)
|
rs1703863535
|
|
NM_006254.4(PRKCD):c.1831C>A (p.Leu611Met)
|
|
|
NM_006254.4(PRKCD):c.1847T>G (p.Leu616Trp)
|
rs2107288493
|
|
NM_006254.4(PRKCD):c.1871T>C (p.Val624Ala)
|
rs782223641
|
|
NM_006254.4(PRKCD):c.1872+11C>G
|
|
|
NM_006254.4(PRKCD):c.1872+13G>A
|
|
|
NM_006254.4(PRKCD):c.1872+1G>A
|
rs782367516
|
|
NM_006254.4(PRKCD):c.187A>G (p.Ile63Val)
|
|
|
NM_006254.4(PRKCD):c.189C>T (p.Ile63=)
|
rs2107256827
|
|
NM_006254.4(PRKCD):c.201C>T (p.Arg67=)
|
|
|
NM_006254.4(PRKCD):c.214G>A (p.Val72Met)
|
rs151061939
|
|
NM_006254.4(PRKCD):c.250G>A (p.Val84Met)
|
|
|
NM_006254.4(PRKCD):c.250G>T (p.Val84Leu)
|
rs1327842167
|
|
NM_006254.4(PRKCD):c.266C>T (p.Ser89Leu)
|
|
|
NM_006254.4(PRKCD):c.271C>T (p.Leu91=)
|
rs79725471
|
|
NM_006254.4(PRKCD):c.280C>T (p.Arg94Cys)
|
rs963574725
|
|
NM_006254.4(PRKCD):c.285C>A (p.Cys95Ter)
|
rs2107257357
|
|
NM_006254.4(PRKCD):c.287A>G (p.Lys96Arg)
|
|
|
NM_006254.4(PRKCD):c.305C>T (p.Ala102Val)
|
rs2107257453
|
|
NM_006254.4(PRKCD):c.309G>A (p.Glu103=)
|
|
|
NM_006254.4(PRKCD):c.30C>A (p.Asn10Lys)
|
|
|
NM_006254.4(PRKCD):c.315+13C>T
|
|
|
NM_006254.4(PRKCD):c.315+17C>T
|
|
|
NM_006254.4(PRKCD):c.315+18C>T
|
|
|
NM_006254.4(PRKCD):c.315+19G>A
|
rs1703363074
|
|
NM_006254.4(PRKCD):c.315+7G>A
|
rs1559623472
|
|
NM_006254.4(PRKCD):c.315+8G>T
|
|
|
NM_006254.4(PRKCD):c.315G>A (p.Trp105Ter)
|
rs2107257487
|
|
NM_006254.4(PRKCD):c.316-7C>T
|
|
|
NM_006254.4(PRKCD):c.377-7T>A
|
rs372103939
|
|
NM_006254.4(PRKCD):c.389C>T (p.Ser130Phe)
|
|
|
NM_006254.4(PRKCD):c.405C>G (p.Asp135Glu)
|
rs200462015
|
|
NM_006254.4(PRKCD):c.417C>G (p.Phe139Leu)
|
rs56208295
|
|
NM_006254.4(PRKCD):c.420A>G (p.Pro140=)
|
rs2107262755
|
|
NM_006254.4(PRKCD):c.421A>G (p.Thr141Ala)
|
rs1703439359
|
|
NM_006254.4(PRKCD):c.422C>T (p.Thr141Met)
|
|
|
NM_006254.4(PRKCD):c.423G>A (p.Thr141=)
|
|
|
NM_006254.4(PRKCD):c.433C>T (p.Arg145Cys)
|
rs2107262808
|
|
NM_006254.4(PRKCD):c.442A>G (p.Ile148Val)
|
rs1559624784
|
|
NM_006254.4(PRKCD):c.446A>G (p.Lys149Arg)
|
rs74793932
|
|
NM_006254.4(PRKCD):c.44G>A (p.Gly15Asp)
|
rs369358922
|
|
NM_006254.4(PRKCD):c.458T>C (p.Ile153Thr)
|
rs370103982
|
|
NM_006254.4(PRKCD):c.474C>T (p.Asn158=)
|
|
|
NM_006254.4(PRKCD):c.486C>T (p.Ile162=)
|
|
|
NM_006254.4(PRKCD):c.488C>T (p.Ala163Val)
|
|
|
NM_006254.4(PRKCD):c.522G>A (p.Val174=)
|
|
|
NM_006254.4(PRKCD):c.531C>T (p.Asp177=)
|
rs1240610213
|
|
NM_006254.4(PRKCD):c.539+16G>A
|
|
|
NM_006254.4(PRKCD):c.540-17T>C
|
|
|
NM_006254.4(PRKCD):c.540-9G>C
|
|
|
NM_006254.4(PRKCD):c.544C>T (p.Leu182Phe)
|
rs1553667592
|
|
NM_006254.4(PRKCD):c.563A>G (p.Lys188Arg)
|
|
|
NM_006254.4(PRKCD):c.56C>T (p.Ala19Val)
|
rs2107253193
|
|
NM_006254.4(PRKCD):c.571+15A>G
|
|
|
NM_006254.4(PRKCD):c.571+17G>A
|
|
|
NM_006254.4(PRKCD):c.571+1G>A
|
|
|
NM_006254.4(PRKCD):c.571+2dup
|
rs2107263484
|
|
NM_006254.4(PRKCD):c.571+7G>A
|
|
|
NM_006254.4(PRKCD):c.571C>T (p.Gln191Ter)
|
rs576747810
|
|
NM_006254.4(PRKCD):c.572-6T>C
|
rs2107267620
|
|
NM_006254.4(PRKCD):c.576T>C (p.Cys192=)
|
|
|
NM_006254.4(PRKCD):c.578A>G (p.Asn193Ser)
|
rs2107267626
|
|
NM_006254.4(PRKCD):c.57C>A (p.Ala19=)
|
rs377115507
|
|
NM_006254.4(PRKCD):c.57C>G (p.Ala19=)
|
rs377115507
|
|
NM_006254.4(PRKCD):c.581C>T (p.Ala194Val)
|
rs1553668112
|
|
NM_006254.4(PRKCD):c.610A>T (p.Ile204Phe)
|
rs1575537929
|
|
NM_006254.4(PRKCD):c.618C>T (p.Gly206=)
|
|
|
NM_006254.4(PRKCD):c.642del (p.Asn214fs)
|
rs2107267894
|
|
NM_006254.4(PRKCD):c.646C>T (p.Arg216Trp)
|
rs782269447
|
|
NM_006254.4(PRKCD):c.651C>T (p.Asp217=)
|
rs2107267952
|
|
NM_006254.4(PRKCD):c.657+10G>T
|
|
|
NM_006254.4(PRKCD):c.657+14C>T
|
|
|
NM_006254.4(PRKCD):c.657+6C>G
|
rs1397485856
|
|
NM_006254.4(PRKCD):c.657+8T>C
|
|
|
NM_006254.4(PRKCD):c.658-11C>G
|
|
|
NM_006254.4(PRKCD):c.658-14A>G
|
|
|
NM_006254.4(PRKCD):c.658-19G>A
|
|
|
NM_006254.4(PRKCD):c.658-9del
|
|
|
NM_006254.4(PRKCD):c.660C>T (p.Phe220=)
|
|
|
NM_006254.4(PRKCD):c.663G>A (p.Gln221=)
|
|
|
NM_006254.4(PRKCD):c.671G>A (p.Arg224His)
|
rs1553668239
|
|
NM_006254.4(PRKCD):c.680T>C (p.Ile227Thr)
|
|
|
NM_006254.4(PRKCD):c.681C>T (p.Ile227=)
|
|
|
NM_006254.4(PRKCD):c.690G>A (p.Pro230=)
|
rs55865871
|
|
NM_006254.4(PRKCD):c.69G>A (p.Ala23=)
|
|
|
NM_006254.4(PRKCD):c.6G>A (p.Ala2=)
|
rs1273815639
|
|
NM_006254.4(PRKCD):c.703G>A (p.Val235Ile)
|
rs782573482
|
|
NM_006254.4(PRKCD):c.743G>A (p.Gly248Asp)
|
rs1703547897
|
|
NM_006254.4(PRKCD):c.744C>T (p.Gly248=)
|
rs147545646
|
|
NM_006254.4(PRKCD):c.750G>A (p.Leu250=)
|
rs2107269090
|
|
NM_006254.4(PRKCD):c.771G>A (p.Gln257=)
|
|
|
NM_006254.4(PRKCD):c.778A>C (p.Lys260Gln)
|
|
|
NM_006254.4(PRKCD):c.787+15G>A
|
|
|
NM_006254.4(PRKCD):c.787+15G>C
|
rs369696959
|
|
NM_006254.4(PRKCD):c.787+3G>A
|
|
|
NM_006254.4(PRKCD):c.788-12C>T
|
|
|
NM_006254.4(PRKCD):c.788-18G>A
|
|
|
NM_006254.4(PRKCD):c.788-19C>T
|
|
|
NM_006254.4(PRKCD):c.788-1G>T
|
|
|
NM_006254.4(PRKCD):c.788-3C>T
|
|
|
NM_006254.4(PRKCD):c.804G>A (p.Val268=)
|
|
|
NM_006254.4(PRKCD):c.818G>A (p.Arg273Gln)
|
|
|
NM_006254.4(PRKCD):c.820G>A (p.Glu274Lys)
|
rs1553668639
|
|
NM_006254.4(PRKCD):c.826G>T (p.Val276Leu)
|
rs1553668642
|
|
NM_006254.4(PRKCD):c.846C>A (p.Ile282=)
|
|
|
NM_006254.4(PRKCD):c.846C>T (p.Ile282=)
|
rs372028715
|
|
NM_006254.4(PRKCD):c.87C>T (p.Ala29=)
|
|
|
NM_006254.4(PRKCD):c.888+12C>T
|
|
|
NM_006254.4(PRKCD):c.888+19G>A
|
|
|
NM_006254.4(PRKCD):c.889-11T>C
|
|
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NM_006254.4(PRKCD):c.889-20C>A
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rs369329996
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NM_006254.4(PRKCD):c.889-20C>G
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rs369329996
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NM_006254.4(PRKCD):c.889-4C>T
|
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NM_006254.4(PRKCD):c.88G>A (p.Val30Met)
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rs1703300399
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NM_006254.4(PRKCD):c.892G>A (p.Ala298Thr)
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rs2107275432
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NM_006254.4(PRKCD):c.896C>T (p.Ser299Phe)
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rs1703646229
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NM_006254.4(PRKCD):c.902G>T (p.Arg301Ile)
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rs2107275476
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NM_006254.4(PRKCD):c.90G>A (p.Val30=)
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rs1437451277
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NM_006254.4(PRKCD):c.90G>C (p.Val30=)
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rs1437451277
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NM_006254.4(PRKCD):c.912A>G (p.Ser304=)
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rs529176751
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NM_006254.4(PRKCD):c.915C>A (p.Ala305=)
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rs201862364
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NM_006254.4(PRKCD):c.932G>A (p.Gly311Glu)
|
rs2107275603
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NM_006254.4(PRKCD):c.939T>C (p.Tyr313=)
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|
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NM_006254.4(PRKCD):c.940C>G (p.Gln314Glu)
|
rs1553668823
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NM_006254.4(PRKCD):c.975G>A (p.Glu325=)
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|
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NM_006254.4(PRKCD):c.985+12T>G
|
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NM_006254.4(PRKCD):c.985+18G>A
|
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NM_006254.4(PRKCD):c.985+19C>T
|
|
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NM_006254.4(PRKCD):c.986-12T>A
|
|
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NM_006254.4(PRKCD):c.998C>A (p.Thr333Asn)
|
rs1703664468
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