NM_006258.4(PRKG1):c.1001+223G>A
|
rs7097336
|
0.99847
|
NM_006258.4(PRKG1):c.1313+194T>C
|
rs1194516
|
0.89799
|
NM_006258.4(PRKG1):c.762+113C>T
|
rs10823860
|
0.75789
|
NM_006258.4(PRKG1):c.762+256C>A
|
rs7083138
|
0.75786
|
NM_006258.4(PRKG1):c.762+146G>A
|
rs7081919
|
0.75582
|
NM_006258.4(PRKG1):c.1076+31C>A
|
rs10824173
|
0.74535
|
NM_006258.4(PRKG1):c.1710-252G>A
|
rs7916242
|
0.61859
|
NM_006258.4(PRKG1):c.*253_*254insG
|
rs5784918
|
0.48078
|
NM_006258.4(PRKG1):c.1962+29G>A
|
rs10762675
|
0.47979
|
NM_006258.4(PRKG1):c.1173+239A>G
|
rs10824300
|
0.46905
|
NM_006258.4(PRKG1):c.840+62C>T
|
rs12778630
|
0.38605
|
NM_006258.4(PRKG1):c.763-296A>G
|
rs1904008
|
0.38426
|
NM_006258.4(PRKG1):c.763-291A>C
|
rs1904009
|
0.38422
|
NM_006258.4(PRKG1):c.936-216C>T
|
rs34582712
|
0.33197
|
NM_006258.4(PRKG1):c.762+274G>T
|
rs34873454
|
0.27250
|
NM_006258.4(PRKG1):c.*157C>T
|
rs1881597
|
0.26778
|
NM_006258.4(PRKG1):c.762+132A>G
|
rs11000040
|
0.20928
|
NM_006258.4(PRKG1):c.936-61A>T
|
rs17642863
|
0.16867
|
NM_006258.4(PRKG1):c.1001+206T>C
|
rs58118931
|
0.15673
|
NM_006258.4(PRKG1):c.1896-149G>A
|
rs41281544
|
0.14100
|
NM_006258.4(PRKG1):c.936-295C>A
|
rs77138124
|
0.12074
|
NM_006258.4(PRKG1):c.1896-263G>A
|
rs16928983
|
0.11275
|
NM_001098512.3(PRKG1):c.267-79022C>T
|
rs12264657
|
0.09404
|
NM_006258.4(PRKG1):c.1314-195C>T
|
rs16928725
|
0.07297
|
NM_006258.4(PRKG1):c.1002-65C>T
|
rs73344945
|
0.05135
|
NM_006258.4(PRKG1):c.1895+170A>G
|
rs11001464
|
0.04558
|
NM_006258.4(PRKG1):c.935+262C>T
|
rs17560996
|
0.03825
|
NM_006258.4(PRKG1):c.1962+255A>T
|
rs57197814
|
0.03664
|
NM_006258.4(PRKG1):c.936-170G>T
|
rs16927140
|
0.03308
|
NM_006258.4(PRKG1):c.1076+125A>C
|
rs7897308
|
0.03249
|
NM_006258.4(PRKG1):c.1076+114G>C
|
rs7908413
|
0.03248
|
NM_006258.4(PRKG1):c.1403+101A>C
|
rs79637161
|
0.03157
|
NM_006258.4(PRKG1):c.1173+214C>A
|
rs79543394
|
0.03148
|
NM_006258.4(PRKG1):c.1173+215T>A
|
rs77530078
|
0.03146
|
NM_006258.4(PRKG1):c.312-170del
|
rs75959880
|
0.03074
|
NM_006258.4(PRKG1):c.1174-217T>C
|
rs74135384
|
0.02747
|
NM_001098512.3(PRKG1):c.-144C>A
|
rs114234235
|
0.02572
|
NM_006258.4(PRKG1):c.1404-113G>C
|
rs78346962
|
0.02518
|
NM_006258.4(PRKG1):c.762+104A>T
|
rs74135025
|
0.02506
|
NM_006258.4(PRKG1):c.1403+28A>G
|
rs76977136
|
0.02474
|
NM_006258.4(PRKG1):c.1174-146G>C
|
rs16928684
|
0.02468
|
NM_006258.4(PRKG1):c.1174-290C>T
|
rs16928683
|
0.02466
|
NM_006258.4(PRKG1):c.1313+114C>A
|
rs74349227
|
0.02452
|
NM_006258.4(PRKG1):c.1709+178G>A
|
rs16928850
|
0.02385
|
NM_001098512.3(PRKG1):c.-359del
|
rs201938144
|
0.02272
|
NM_001098512.3(PRKG1):c.-152A>G
|
rs111417107
|
0.02001
|
NM_006258.4(PRKG1):c.1546-52T>A
|
rs11001441
|
0.01950
|
NM_006258.4(PRKG1):c.936-70T>C
|
rs115286711
|
0.01937
|
NM_006258.4(PRKG1):c.593-192A>C
|
rs16913410
|
0.01680
|
NM_006258.4(PRKG1):c.1963-151A>G
|
rs9664313
|
0.01665
|
NM_006258.4(PRKG1):c.841-58T>C
|
rs111827370
|
0.01440
|
NM_006258.4(PRKG1):c.1404-308C>T
|
rs74133304
|
0.01319
|
NM_006258.4(PRKG1):c.479-188T>C
|
rs146748408
|
0.01284
|
NM_006258.4(PRKG1):c.763-283A>G
|
rs143782674
|
0.01224
|
NM_006258.4(PRKG1):c.1546-201C>T
|
rs114298342
|
0.01084
|
NM_006258.4(PRKG1):c.936-167A>G
|
rs7077884
|
0.00999
|
NM_006258.4(PRKG1):c.1002-190C>T
|
rs41436851
|
0.00918
|
NM_006258.4(PRKG1):c.1546-284G>C
|
rs139929867
|
0.00827
|
NM_001098512.3(PRKG1):c.267-78848C>G
|
rs541141424
|
0.00782
|
NM_006258.4(PRKG1):c.1077-208G>A
|
rs115808289
|
0.00759
|
NM_006258.4(PRKG1):c.1963-92A>C
|
rs11001486
|
0.00733
|
NM_006258.4(PRKG1):c.762+158G>A
|
rs146613422
|
0.00692
|
NM_006258.4(PRKG1):c.1001+136G>A
|
rs79969716
|
0.00667
|
NM_006258.4(PRKG1):c.592+174A>C
|
rs190288401
|
0.00625
|
NM_006258.4(PRKG1):c.479-198G>T
|
rs530698092
|
0.00550
|
NM_006258.4(PRKG1):c.479-197T>C
|
rs544043034
|
0.00549
|
NM_006258.4(PRKG1):c.1313+62C>G
|
rs144203862
|
0.00492
|
NM_006258.4(PRKG1):c.592+37G>A
|
rs140578998
|
0.00491
|
NM_001098512.3(PRKG1):c.266+134C>A
|
rs183264171
|
0.00489
|
NM_006258.4(PRKG1):c.1962+154C>A
|
rs114131500
|
0.00463
|
NM_006258.4(PRKG1):c.478+304C>T
|
rs115175554
|
0.00444
|
NM_006258.4(PRKG1):c.426C>T (p.Asp142=)
|
rs55754654
|
0.00439
|
NM_006258.4(PRKG1):c.312-278C>T
|
rs185757884
|
0.00392
|
NM_006258.4(PRKG1):c.1962+246C>A
|
rs189446419
|
0.00325
|
NM_006258.4(PRKG1):c.593-216C>T
|
rs150113730
|
0.00309
|
NM_001098512.3(PRKG1):c.-75C>A
|
rs559862615
|
0.00285
|
NM_001098512.3(PRKG1):c.266+35C>T
|
rs12221331
|
0.00214
|
NM_006258.4(PRKG1):c.906A>C (p.Gly302=)
|
rs145917628
|
0.00185
|
NM_006258.4(PRKG1):c.312-174T>G
|
rs567582035
|
0.00165
|
NM_006258.4(PRKG1):c.1299C>T (p.Ser433=)
|
rs145035655
|
0.00127
|
NM_006258.4(PRKG1):c.1071A>G (p.Lys357=)
|
rs75650199
|
0.00097
|
NM_006258.4(PRKG1):c.-30A>G
|
rs199796018
|
0.00064
|
NM_001098512.3(PRKG1):c.39G>A (p.Met13Ile)
|
rs202017913
|
0.00060
|
NM_006258.4(PRKG1):c.1545+44T>C
|
rs2303567
|
0.00053
|
NM_006258.4(PRKG1):c.1963-16T>G
|
rs376174664
|
0.00052
|
NM_006258.4(PRKG1):c.675C>T (p.Thr225=)
|
rs142166726
|
0.00050
|
NM_006258.4(PRKG1):c.1002-10C>T
|
rs374171830
|
0.00031
|
NM_006258.4(PRKG1):c.1466A>T (p.Tyr489Phe)
|
rs149710600
|
0.00027
|
NM_006258.4(PRKG1):c.1002-9G>A
|
rs200218082
|
0.00022
|
NM_006258.4(PRKG1):c.893C>T (p.Thr298Ile)
|
rs140716870
|
0.00022
|
NM_006258.4(PRKG1):c.810G>C (p.Gly270=)
|
rs151055252
|
0.00016
|
NM_006258.4(PRKG1):c.1017G>A (p.Leu339=)
|
rs187636159
|
0.00012
|
NM_006258.4(PRKG1):c.790A>G (p.Ile264Val)
|
rs56082459
|
0.00012
|
NM_006258.4(PRKG1):c.1026G>A (p.Gly342=)
|
rs374834674
|
0.00011
|
NM_006258.4(PRKG1):c.1662C>T (p.Ala554=)
|
rs374202731
|
0.00011
|
NM_006258.4(PRKG1):c.2043A>T (p.Gly681=)
|
rs146785168
|
0.00011
|
NM_006258.4(PRKG1):c.839C>T (p.Thr280Met)
|
rs376134488
|
0.00011
|
NM_006258.4(PRKG1):c.1174-9T>G
|
rs372515971
|
0.00008
|
NM_006258.4(PRKG1):c.1092G>A (p.Ala364=)
|
rs373675576
|
0.00007
|
NM_006258.4(PRKG1):c.63G>A (p.Arg21=)
|
rs143805509
|
0.00007
|
NM_006258.4(PRKG1):c.980C>A (p.Thr327Asn)
|
rs138485549
|
0.00007
|
NM_006258.4(PRKG1):c.2014G>A (p.Asp672Asn)
|
rs142375882
|
0.00006
|
NM_006258.4(PRKG1):c.30G>A (p.Ala10=)
|
rs768867882
|
0.00006
|
NM_006258.4(PRKG1):c.1867A>T (p.Asn623Tyr)
|
rs201720423
|
0.00005
|
NM_006258.4(PRKG1):c.1228C>T (p.Arg410Cys)
|
rs377519440
|
0.00004
|
NM_006258.4(PRKG1):c.123G>A (p.Lys41=)
|
rs146681875
|
0.00004
|
NM_006258.4(PRKG1):c.1264C>T (p.Arg422Cys)
|
rs147351459
|
0.00004
|
NM_006258.4(PRKG1):c.1423A>G (p.Thr475Ala)
|
rs140630065
|
0.00004
|
NM_006258.4(PRKG1):c.1988A>G (p.Asn663Ser)
|
rs766915028
|
0.00004
|
NM_006258.4(PRKG1):c.421A>C (p.Lys141Gln)
|
rs761759814
|
0.00004
|
NM_006258.4(PRKG1):c.1102G>A (p.Ala368Thr)
|
rs755634503
|
0.00003
|
NM_006258.4(PRKG1):c.1229G>A (p.Arg410His)
|
rs201147665
|
0.00003
|
NM_006258.4(PRKG1):c.165A>T (p.Pro55=)
|
rs761986596
|
0.00003
|
NM_006258.4(PRKG1):c.2042G>C (p.Gly681Ala)
|
rs750949508
|
0.00002
|
NM_006258.4(PRKG1):c.299C>G (p.Pro100Arg)
|
rs763629518
|
0.00002
|
NM_006258.4(PRKG1):c.586G>A (p.Val196Ile)
|
rs777385159
|
0.00002
|
NM_006258.4(PRKG1):c.622G>A (p.Asp208Asn)
|
rs760798881
|
0.00002
|
NM_006258.4(PRKG1):c.777T>C (p.Asn259=)
|
rs774710312
|
0.00002
|
NM_006258.4(PRKG1):c.841-9T>C
|
rs553608826
|
0.00002
|
NM_006258.4(PRKG1):c.854G>A (p.Arg285His)
|
rs765812630
|
0.00002
|
NM_006258.4(PRKG1):c.1016T>C (p.Leu339Ser)
|
rs775720873
|
0.00001
|
NM_006258.4(PRKG1):c.1106A>G (p.Asn369Ser)
|
rs775372704
|
0.00001
|
NM_006258.4(PRKG1):c.170C>T (p.Thr57Ile)
|
rs758888287
|
0.00001
|
NM_006258.4(PRKG1):c.1710C>T (p.Ser570=)
|
rs200610874
|
0.00001
|
NM_006258.4(PRKG1):c.1750A>G (p.Ile584Val)
|
rs1842176037
|
0.00001
|
NM_006258.4(PRKG1):c.1936A>G (p.Thr646Ala)
|
rs1057524623
|
0.00001
|
NM_006258.4(PRKG1):c.2016T>C (p.Asp672=)
|
rs781473103
|
0.00001
|
NM_006258.4(PRKG1):c.2052A>G (p.Ile684Met)
|
rs374752370
|
0.00001
|
NM_006258.4(PRKG1):c.259G>A (p.Asp87Asn)
|
rs1282024063
|
0.00001
|
NM_006258.4(PRKG1):c.378G>C (p.Gln126His)
|
rs749508576
|
0.00001
|
NM_006258.4(PRKG1):c.395A>G (p.Asp132Gly)
|
rs140871298
|
0.00001
|
NM_006258.4(PRKG1):c.449A>C (p.Asp150Ala)
|
rs775427696
|
0.00001
|
NM_006258.4(PRKG1):c.450C>T (p.Asp150=)
|
rs368286950
|
0.00001
|
NM_006258.4(PRKG1):c.473T>C (p.Met158Thr)
|
rs767973721
|
0.00001
|
NM_006258.4(PRKG1):c.478+10G>T
|
rs763995628
|
0.00001
|
NM_006258.4(PRKG1):c.619A>G (p.Ile207Val)
|
rs1235083176
|
0.00001
|
NM_006258.4(PRKG1):c.935+5G>A
|
rs80293383
|
0.00001
|
GRCh37/hg19 10q21.1(chr10:53204509-53211991)x1
|
|
|
GRCh37/hg19 10q21.1(chr10:53269467-53318238)x1
|
|
|
GRCh37/hg19 10q21.1(chr10:53699753-53701052)x1
|
|
|
GRCh37/hg19 10q21.1(chr10:53825576-53983258)x3
|
|
|
GRCh37/hg19 10q21.1(chr10:54012974-54017651)x1
|
|
|
GRCh37/hg19 10q21.1(chr10:54016062-54019620)x0
|
|
|
GRCh37/hg19 10q21.1(chr10:54016062-54024195)x3
|
|
|
GRCh37/hg19 10q21.1(chr10:54016062-54028464)x1
|
|
|
GRCh37/hg19 10q21.1(chr10:54016099-54019620)x1
|
|
|
NC_000010.11:g.50990877del
|
rs111693383
|
|
NC_000010.11:g.50990877dup
|
rs111693383
|
|
NM_001098512.3(PRKG1):c.-345A>G
|
rs186127402
|
|
NM_001098512.3(PRKG1):c.-474C>T
|
rs2248908
|
|
NM_001098512.3(PRKG1):c.-49_-48insTGC
|
rs35361017
|
|
NM_001098512.3(PRKG1):c.-68GCC[12]
|
rs79957958
|
|
NM_001098512.3(PRKG1):c.-68GCC[13]
|
rs79957958
|
|
NM_001098512.3(PRKG1):c.-68GCC[15]
|
rs79957958
|
|
NM_001098512.3(PRKG1):c.-68GCC[8]
|
rs79957958
|
|
NM_001098512.3(PRKG1):c.246G>C (p.Arg82=)
|
rs1554828392
|
|
NM_001098512.3(PRKG1):c.266+52G>C
|
rs555654395
|
|
NM_006258.4(PRKG1):c.1000G>A (p.Asp334Asn)
|
rs2132635326
|
|
NM_006258.4(PRKG1):c.1001+6447A>T
|
rs2132648423
|
|
NM_006258.4(PRKG1):c.1067C>T (p.Ala356Val)
|
|
|
NM_006258.4(PRKG1):c.1076+19_1076+20insTGGCCTT
|
rs146504019
|
|
NM_006258.4(PRKG1):c.1076+22785T>C
|
|
|
NM_006258.4(PRKG1):c.1144G>A (p.Gly382Arg)
|
rs1554821529
|
|
NM_006258.4(PRKG1):c.1174-122_1174-121del
|
rs145585088
|
|
NM_006258.4(PRKG1):c.1174-84G>T
|
rs10454466
|
|
NM_006258.4(PRKG1):c.1190A>G (p.Glu397Gly)
|
|
|
NM_006258.4(PRKG1):c.1232A>G (p.His411Arg)
|
rs2132432761
|
|
NM_006258.4(PRKG1):c.1403+285_1403+286insACAG
|
rs143147791
|
|
NM_006258.4(PRKG1):c.1528C>A (p.Arg510=)
|
|
|
NM_006258.4(PRKG1):c.1528C>G (p.Arg510Gly)
|
rs1564544146
|
|
NM_006258.4(PRKG1):c.1545+27G>T
|
rs7912782
|
|
NM_006258.4(PRKG1):c.1546-141_1546-137dup
|
rs200218300
|
|
NM_006258.4(PRKG1):c.1559T>G (p.Phe520Cys)
|
|
|
NM_006258.4(PRKG1):c.1584G>A (p.Lys528=)
|
|
|
NM_006258.4(PRKG1):c.1674A>C (p.Ser558=)
|
rs1564544689
|
|
NM_006258.4(PRKG1):c.1742C>T (p.Thr581Ile)
|
|
|
NM_006258.4(PRKG1):c.1858A>T (p.Asn620Tyr)
|
rs2132460377
|
|
NM_006258.4(PRKG1):c.1962+40G>A
|
rs147550708
|
|
NM_006258.4(PRKG1):c.1968A>G (p.Ala656=)
|
rs564599393
|
|
NM_006258.4(PRKG1):c.1993G>T (p.Asp665Tyr)
|
rs2132469736
|
|
NM_006258.4(PRKG1):c.2005G>A (p.Glu669Lys)
|
rs2132469753
|
|
NM_006258.4(PRKG1):c.2011_2013del (p.Asn671del)
|
rs773730432
|
|
NM_006258.4(PRKG1):c.211G>A (p.Glu71Lys)
|
rs2132804640
|
|
NM_006258.4(PRKG1):c.226C>A (p.Arg76=)
|
rs919667557
|
|
NM_006258.4(PRKG1):c.226C>T (p.Arg76Trp)
|
rs919667557
|
|
NM_006258.4(PRKG1):c.312-170G>T
|
rs3740292
|
|
NM_006258.4(PRKG1):c.319G>C (p.Asp107His)
|
rs751916382
|
|
NM_006258.4(PRKG1):c.389T>C (p.Ile130Thr)
|
rs771121101
|
|
NM_006258.4(PRKG1):c.421A>G (p.Lys141Glu)
|
rs761759814
|
|
NM_006258.4(PRKG1):c.478+163_478+166del
|
rs142371458
|
|
NM_006258.4(PRKG1):c.522C>T (p.Thr174=)
|
rs369697050
|
|
NM_006258.4(PRKG1):c.542T>C (p.Phe181Ser)
|
rs141293448
|
|
NM_006258.4(PRKG1):c.546G>A (p.Gly182=)
|
rs73336216
|
|
NM_006258.4(PRKG1):c.553G>A (p.Ala185Thr)
|
rs1554812434
|
|
NM_006258.4(PRKG1):c.568T>C (p.Cys190Arg)
|
rs1554812441
|
|
NM_006258.4(PRKG1):c.575G>A (p.Arg192Gln)
|
rs397515330
|
|
NM_006258.4(PRKG1):c.5G>A (p.Gly2Asp)
|
rs1843898285
|
|
NM_006258.4(PRKG1):c.610C>T (p.Leu204Phe)
|
rs1839257214
|
|
NM_006258.4(PRKG1):c.620T>C (p.Ile207Thr)
|
|
|
NM_006258.4(PRKG1):c.683T>C (p.Met228Thr)
|
rs1468952215
|
|
NM_006258.4(PRKG1):c.699-118del
|
rs34697221
|
|
NM_006258.4(PRKG1):c.699-118dup
|
rs34697221
|
|
NM_006258.4(PRKG1):c.699-119_699-118dup
|
rs34697221
|
|
NM_006258.4(PRKG1):c.762+1165_762+1166insATATATATATATATATTTTTT
|
|
|
NM_006258.4(PRKG1):c.762+1165_762+1166insATATATATATATATTTTTT
|
|
|
NM_006258.4(PRKG1):c.762+1221G>A
|
|
|
NM_006258.4(PRKG1):c.80A>T (p.Glu27Val)
|
|
|
NM_006258.4(PRKG1):c.840+5G>T
|
rs1064796485
|
|
NM_006258.4(PRKG1):c.910T>A (p.Trp304Arg)
|
|
|
NM_006258.4(PRKG1):c.958G>C (p.Val320Leu)
|
|
|