NM_020433.5(JPH2):c.156C>T (p.Tyr52=)
|
rs1883790
|
0.86681
|
NM_020433.5(JPH2):c.379+36A>G
|
rs6031442
|
0.86287
|
NM_020433.5(JPH2):c.-393C>A
|
rs6031444
|
0.60982
|
NM_020433.5(JPH2):c.379+8538T>A
|
rs2064381
|
0.56659
|
NM_020433.5(JPH2):c.1289-89A>C
|
rs6073336
|
0.51040
|
NM_020433.5(JPH2):c.379+130T>C
|
rs6031441
|
0.42054
|
NM_020433.5(JPH2):c.379+279C>A
|
rs2092518
|
0.42042
|
NM_020433.5(JPH2):c.*14+269C>T
|
rs2867794
|
0.40853
|
NM_020433.5(JPH2):c.*14+173A>G
|
rs56170305
|
0.33284
|
NM_020433.5(JPH2):c.-401G>A
|
rs41279278
|
0.20507
|
NM_020433.5(JPH2):c.379+8605C>G
|
rs6130557
|
0.19687
|
NM_020433.5(JPH2):c.1169+123A>G
|
rs55825903
|
0.12105
|
NM_020433.5(JPH2):c.2010+40C>G
|
rs56061946
|
0.11470
|
NM_020433.4(JPH2):c.-974T>C
|
rs17755091
|
0.09671
|
NM_020433.5(JPH2):c.*258G>A
|
rs13043824
|
0.09303
|
NM_020433.5(JPH2):c.379+77C>T
|
rs75804573
|
0.08287
|
NM_020433.5(JPH2):c.*15-115A>C
|
rs116834259
|
0.02818
|
NM_020433.5(JPH2):c.379+8059T>C
|
rs111784271
|
0.02185
|
NM_020433.5(JPH2):c.1289-7C>T
|
rs116986535
|
0.02105
|
NM_020433.5(JPH2):c.380-105G>A
|
rs12480648
|
0.01885
|
NM_020433.5(JPH2):c.2010+245G>A
|
rs7267668
|
0.01363
|
NM_020433.5(JPH2):c.2010+89G>A
|
rs117011960
|
0.01070
|
NM_020433.5(JPH2):c.1513G>A (p.Gly505Ser)
|
rs140740776
|
0.01003
|
NM_020433.5(JPH2):c.379+8052T>C
|
rs74325346
|
0.01003
|
NM_020433.5(JPH2):c.2011-100C>G
|
rs111521448
|
0.00905
|
NM_020433.5(JPH2):c.1288+52C>T
|
rs115546872
|
0.00750
|
NM_020433.5(JPH2):c.*14+175A>G
|
rs398040671
|
0.00718
|
NM_020433.5(JPH2):c.661T>C (p.Phe221Leu)
|
rs558770240
|
0.00630
|
NM_020433.5(JPH2):c.*14+124C>T
|
rs115154926
|
0.00527
|
NM_020433.5(JPH2):c.380-141T>C
|
rs7360117
|
0.00513
|
NM_020433.5(JPH2):c.379+8507A>C
|
rs192094794
|
0.00439
|
NM_020433.5(JPH2):c.380-9C>G
|
rs111987307
|
0.00423
|
NM_020433.5(JPH2):c.*14+259C>T
|
rs565720270
|
0.00344
|
NM_020433.5(JPH2):c.562C>T (p.Pro188Ser)
|
rs574746149
|
0.00214
|
NM_020433.5(JPH2):c.1794C>A (p.Ser598=)
|
rs369883442
|
0.00212
|
NM_020433.5(JPH2):c.856A>G (p.Thr286Ala)
|
rs144022614
|
0.00183
|
NM_020433.5(JPH2):c.637C>T (p.Arg213Trp)
|
rs767328866
|
0.00145
|
NM_020433.5(JPH2):c.642G>A (p.Ala214=)
|
rs587780956
|
0.00145
|
NM_020433.5(JPH2):c.1971G>A (p.Glu657=)
|
rs142333841
|
0.00099
|
NM_020433.5(JPH2):c.1289-36G>C
|
rs184801349
|
0.00090
|
NM_020433.5(JPH2):c.1424G>A (p.Arg475His)
|
rs765754956
|
0.00079
|
NM_020433.5(JPH2):c.128A>G (p.Asn43Ser)
|
rs138992849
|
0.00072
|
NM_020433.5(JPH2):c.2011-17C>T
|
rs375414020
|
0.00051
|
NM_020433.5(JPH2):c.572C>G (p.Pro191Arg)
|
rs554853074
|
0.00048
|
NM_020433.5(JPH2):c.1137C>A (p.Ile379=)
|
rs143158930
|
0.00046
|
NM_020433.5(JPH2):c.1380G>A (p.Ala460=)
|
rs531877510
|
0.00044
|
NM_020433.5(JPH2):c.692G>A (p.Arg231Gln)
|
rs761591158
|
0.00039
|
NM_020433.5(JPH2):c.1204G>A (p.Glu402Lys)
|
rs147407445
|
0.00038
|
NM_020433.5(JPH2):c.1410G>A (p.Pro470=)
|
rs751126526
|
0.00036
|
NM_020433.5(JPH2):c.1015G>A (p.Gly339Ser)
|
rs368290474
|
0.00035
|
NM_020433.5(JPH2):c.780C>T (p.Ala260=)
|
rs199840543
|
0.00034
|
NM_020433.5(JPH2):c.783G>C (p.Ala261=)
|
rs201085317
|
0.00034
|
NM_020433.5(JPH2):c.1107T>C (p.Ser369=)
|
rs148311735
|
0.00033
|
NM_020433.5(JPH2):c.1566G>A (p.Arg522=)
|
rs559143345
|
0.00031
|
NM_020433.5(JPH2):c.648G>A (p.Lys216=)
|
rs796219248
|
0.00029
|
NM_020433.5(JPH2):c.1233G>A (p.Glu411=)
|
rs143061111
|
0.00026
|
NM_020433.5(JPH2):c.379+12T>G
|
rs763058686
|
0.00023
|
NM_020433.5(JPH2):c.483G>A (p.Thr161=)
|
rs746384802
|
0.00023
|
NM_020433.5(JPH2):c.1852A>G (p.Thr618Ala)
|
rs376612687
|
0.00017
|
NM_020433.5(JPH2):c.1271C>T (p.Pro424Leu)
|
rs375446898
|
0.00013
|
NM_020433.5(JPH2):c.1581C>G (p.Ser527=)
|
rs752533344
|
0.00011
|
NM_020433.5(JPH2):c.735T>C (p.Arg245=)
|
rs569709682
|
0.00011
|
NM_020433.5(JPH2):c.1896G>C (p.Glu632Asp)
|
rs367563723
|
0.00010
|
NM_020433.5(JPH2):c.*3G>A
|
rs200730588
|
0.00009
|
NM_020433.5(JPH2):c.1169+10C>T
|
rs372219237
|
0.00009
|
NM_020433.5(JPH2):c.1565G>A (p.Arg522Gln)
|
rs980412081
|
0.00007
|
NM_020433.5(JPH2):c.582C>T (p.Ala194=)
|
rs565885872
|
0.00007
|
NM_020433.5(JPH2):c.1185G>A (p.Lys395=)
|
rs760586009
|
0.00006
|
NM_020433.5(JPH2):c.1433C>T (p.Pro478Leu)
|
rs970525996
|
0.00006
|
NM_020433.5(JPH2):c.1771G>A (p.Gly591Arg)
|
rs751914931
|
0.00006
|
NM_020433.5(JPH2):c.861C>T (p.Thr287=)
|
rs565508885
|
0.00006
|
NM_020433.5(JPH2):c.1420G>A (p.Glu474Lys)
|
rs1033476644
|
0.00005
|
NM_020433.5(JPH2):c.1894G>A (p.Glu632Lys)
|
rs200149713
|
0.00005
|
NM_020433.5(JPH2):c.1033G>C (p.Val345Leu)
|
rs748233107
|
0.00004
|
NM_020433.5(JPH2):c.1149G>T (p.Lys383Asn)
|
rs754243118
|
0.00004
|
NM_020433.5(JPH2):c.1246C>T (p.Arg416Cys)
|
rs794729025
|
0.00004
|
NM_020433.5(JPH2):c.1348C>T (p.Leu450=)
|
rs932394965
|
0.00004
|
NM_020433.5(JPH2):c.1658C>T (p.Ala553Val)
|
rs200422043
|
0.00004
|
NM_020433.5(JPH2):c.1974C>T (p.Ala658=)
|
rs554320907
|
0.00004
|
NM_020433.5(JPH2):c.2062G>A (p.Ala688Thr)
|
rs540933939
|
0.00004
|
NM_020433.5(JPH2):c.299C>T (p.Ser100Leu)
|
rs145401873
|
0.00004
|
NM_020433.5(JPH2):c.531G>A (p.Pro177=)
|
rs1057522198
|
0.00004
|
NM_020433.5(JPH2):c.576G>A (p.Ser192=)
|
rs1397018944
|
0.00004
|
NM_020433.5(JPH2):c.601G>A (p.Ala201Thr)
|
rs953581894
|
0.00004
|
NM_020433.5(JPH2):c.1078A>C (p.Asn360His)
|
rs747676827
|
0.00003
|
NM_020433.5(JPH2):c.1170-11T>C
|
rs376052338
|
0.00003
|
NM_020433.5(JPH2):c.1180G>A (p.Ala394Thr)
|
rs372515066
|
0.00003
|
NM_020433.5(JPH2):c.1582G>A (p.Glu528Lys)
|
rs794729026
|
0.00003
|
NM_020433.5(JPH2):c.1720A>G (p.Thr574Ala)
|
rs773306912
|
0.00003
|
NM_020433.5(JPH2):c.8G>A (p.Gly3Glu)
|
rs746138065
|
0.00003
|
NM_020433.5(JPH2):c.1497C>A (p.Pro499=)
|
rs1441785257
|
0.00002
|
NM_020433.5(JPH2):c.1564C>T (p.Arg522Trp)
|
rs770850932
|
0.00002
|
NM_020433.5(JPH2):c.1772G>T (p.Gly591Val)
|
rs766721028
|
0.00002
|
NM_020433.5(JPH2):c.1851G>A (p.Glu617=)
|
rs759468707
|
0.00002
|
NM_020433.5(JPH2):c.1951A>G (p.Lys651Glu)
|
rs778410296
|
0.00002
|
NM_020433.5(JPH2):c.820G>A (p.Asp274Asn)
|
rs376694047
|
0.00002
|
NM_020433.5(JPH2):c.*15A>T
|
rs561604738
|
0.00001
|
NM_020433.5(JPH2):c.1169+5G>A
|
rs766770510
|
0.00001
|
NM_020433.5(JPH2):c.1175G>A (p.Ser392Asn)
|
rs148621426
|
0.00001
|
NM_020433.5(JPH2):c.1240A>G (p.Ile414Val)
|
rs537544755
|
0.00001
|
NM_020433.5(JPH2):c.1289-9C>T
|
rs936894679
|
0.00001
|
NM_020433.5(JPH2):c.1292C>T (p.Pro431Leu)
|
rs1272859605
|
0.00001
|
NM_020433.5(JPH2):c.1293G>A (p.Pro431=)
|
rs2072193158
|
0.00001
|
NM_020433.5(JPH2):c.1306C>T (p.Arg436Cys)
|
rs1326977511
|
0.00001
|
NM_020433.5(JPH2):c.1489C>T (p.Pro497Ser)
|
rs1413237923
|
0.00001
|
NM_020433.5(JPH2):c.1568C>T (p.Ser523Leu)
|
rs1378737709
|
0.00001
|
NM_020433.5(JPH2):c.1667G>A (p.Arg556Gln)
|
rs780999986
|
0.00001
|
NM_020433.5(JPH2):c.1671G>A (p.Glu557=)
|
rs754665306
|
0.00001
|
NM_020433.5(JPH2):c.1690C>T (p.Gln564Ter)
|
rs1185542895
|
0.00001
|
NM_020433.5(JPH2):c.169G>A (p.Gly57Arg)
|
rs1288721821
|
0.00001
|
NM_020433.5(JPH2):c.1750C>A (p.Gln584Lys)
|
rs730880253
|
0.00001
|
NM_020433.5(JPH2):c.1847G>T (p.Arg616Leu)
|
rs200081425
|
0.00001
|
NM_020433.5(JPH2):c.226A>G (p.Thr76Ala)
|
rs764474492
|
0.00001
|
NM_020433.5(JPH2):c.278G>A (p.Arg93His)
|
rs1131692244
|
0.00001
|
NM_020433.5(JPH2):c.412C>A (p.Arg138Ser)
|
rs1312146372
|
0.00001
|
NM_020433.5(JPH2):c.421T>C (p.Tyr141His)
|
rs387906897
|
0.00001
|
NM_020433.5(JPH2):c.443C>T (p.Pro148Leu)
|
rs772582964
|
0.00001
|
NM_020433.5(JPH2):c.458T>C (p.Val153Ala)
|
rs776045429
|
0.00001
|
NM_020433.5(JPH2):c.45C>T (p.Cys15=)
|
rs748073251
|
0.00001
|
NM_020433.5(JPH2):c.611T>G (p.Leu204Arg)
|
rs1369796322
|
0.00001
|
NM_020433.5(JPH2):c.641C>A (p.Ala214Glu)
|
rs952147058
|
0.00001
|
NM_020433.5(JPH2):c.723C>G (p.Ser241Arg)
|
rs587782952
|
0.00001
|
NM_020433.5(JPH2):c.810C>A (p.Ala270=)
|
rs779680763
|
0.00001
|
NM_020433.5(JPH2):c.837C>T (p.Phe279=)
|
rs773521151
|
0.00001
|
NM_020433.5(JPH2):c.968G>A (p.Arg323His)
|
rs778739555
|
0.00001
|
NM_020433.5(JPH2):c.978T>C (p.Tyr326=)
|
rs777461348
|
0.00001
|
GRCh37/hg19 20q13.12(chr20:42801971-42821839)x3
|
|
|
NM_020433.5(JPH2):c.*14+169GC[3]
|
rs1555853088
|
|
NM_020433.5(JPH2):c.*14+169GC[4]
|
rs1555853088
|
|
NM_020433.5(JPH2):c.*14+173AC[13]
|
rs3037626
|
|
NM_020433.5(JPH2):c.*14+173AC[18]
|
rs3037626
|
|
NM_020433.5(JPH2):c.*14+173AC[19]
|
rs3037626
|
|
NM_020433.5(JPH2):c.*14+173AC[20]
|
rs3037626
|
|
NM_020433.5(JPH2):c.*14+173AC[21]
|
rs3037626
|
|
NM_020433.5(JPH2):c.*14+173AC[23]
|
rs3037626
|
|
NM_020433.5(JPH2):c.-450G>C
|
rs2235808
|
|
NM_020433.5(JPH2):c.1013A>G (p.Glu338Gly)
|
|
|
NM_020433.5(JPH2):c.1025G>A (p.Arg342His)
|
|
|
NM_020433.5(JPH2):c.1088G>A (p.Arg363His)
|
rs757549568
|
|
NM_020433.5(JPH2):c.1090C>T (p.Gln364Ter)
|
rs794729024
|
|
NM_020433.5(JPH2):c.109G>A (p.Glu37Lys)
|
|
|
NM_020433.5(JPH2):c.1169+248del
|
rs199566074
|
|
NM_020433.5(JPH2):c.1170-278A>C
|
rs183116678
|
|
NM_020433.5(JPH2):c.1185_1186delinsAA (p.Ala396Thr)
|
rs1060503798
|
|
NM_020433.5(JPH2):c.1213G>A (p.Ala405Thr)
|
rs557878787
|
|
NM_020433.5(JPH2):c.1213G>T (p.Ala405Ser)
|
rs557878787
|
|
NM_020433.5(JPH2):c.1247G>A (p.Arg416His)
|
rs190802013
|
|
NM_020433.5(JPH2):c.1275C>A (p.Asp425Glu)
|
rs2145840509
|
|
NM_020433.5(JPH2):c.1289-34G>T
|
rs116625075
|
|
NM_020433.5(JPH2):c.1375G>A (p.Ala459Thr)
|
|
|
NM_020433.5(JPH2):c.1414_1415delinsGG (p.Leu472Gly)
|
rs2145838792
|
|
NM_020433.5(JPH2):c.1454C>T (p.Pro485Leu)
|
rs1085307656
|
|
NM_020433.5(JPH2):c.1464C>A (p.Ala488=)
|
rs1060499997
|
|
NM_020433.5(JPH2):c.1487G>A (p.Arg496Gln)
|
rs1404072085
|
|
NM_020433.5(JPH2):c.1551C>A (p.Ser517Arg)
|
rs1295638660
|
|
NM_020433.5(JPH2):c.1562G>A (p.Ser521Asn)
|
rs1057524375
|
|
NM_020433.5(JPH2):c.1655C>T (p.Pro552Leu)
|
rs876657833
|
|
NM_020433.5(JPH2):c.1665G>A (p.Ser555=)
|
rs398124357
|
|
NM_020433.5(JPH2):c.1674G>A (p.Pro558=)
|
|
|
NM_020433.5(JPH2):c.1714C>T (p.Arg572Cys)
|
rs377366285
|
|
NM_020433.5(JPH2):c.1724C>T (p.Pro575Leu)
|
rs1310645221
|
|
NM_020433.5(JPH2):c.1739C>A (p.Pro580His)
|
rs1162090571
|
|
NM_020433.5(JPH2):c.1739C>T (p.Pro580Leu)
|
|
|
NM_020433.5(JPH2):c.1759_1779dup (p.Pro587_Glu593dup)
|
rs774773499
|
|
NM_020433.5(JPH2):c.1826T>C (p.Leu609Pro)
|
|
|
NM_020433.5(JPH2):c.1851G>C (p.Glu617Asp)
|
rs759468707
|
|
NM_020433.5(JPH2):c.1903G>C (p.Ala635Pro)
|
rs1409841420
|
|
NM_020433.5(JPH2):c.1937C>G (p.Thr646Ser)
|
rs1600828763
|
|
NM_020433.5(JPH2):c.1951AAG[2] (p.Lys653del)
|
rs111666278
|
|
NM_020433.5(JPH2):c.1975G>A (p.Ala659Thr)
|
rs1600828677
|
|
NM_020433.5(JPH2):c.1995GGTGGA[3] (p.666VE[3])
|
rs763064503
|
|
NM_020433.5(JPH2):c.2010+146G>C
|
rs6103631
|
|
NM_020433.5(JPH2):c.2066T>C (p.Ile689Thr)
|
|
|
NM_020433.5(JPH2):c.222A>G (p.Ile74Met)
|
rs2145906046
|
|
NM_020433.5(JPH2):c.236G>C (p.Arg79Pro)
|
|
|
NM_020433.5(JPH2):c.23T>C (p.Phe8Ser)
|
rs2072848592
|
|
NM_020433.5(JPH2):c.323G>A (p.Gly108Asp)
|
rs2145905825
|
|
NM_020433.5(JPH2):c.338G>T (p.Gly113Val)
|
rs2145905804
|
|
NM_020433.5(JPH2):c.350G>A (p.Gly117Asp)
|
rs1289294595
|
|
NM_020433.5(JPH2):c.424G>T (p.Gly142Ter)
|
rs765874503
|
|
NM_020433.5(JPH2):c.431G>A (p.Arg144His)
|
rs1167554487
|
|
NM_020433.5(JPH2):c.448G>C (p.Gly150Arg)
|
rs1231304653
|
|
NM_020433.5(JPH2):c.468C>G (p.Arg156=)
|
rs553395930
|
|
NM_020433.5(JPH2):c.470C>T (p.Ser157Leu)
|
|
|
NM_020433.5(JPH2):c.505G>C (p.Glu169Gln)
|
rs2072600840
|
|
NM_020433.5(JPH2):c.517G>C (p.Gly173Arg)
|
rs757693348
|
|
NM_020433.5(JPH2):c.541del (p.Ala181fs)
|
rs1600857997
|
|
NM_020433.5(JPH2):c.584T>C (p.Ile195Thr)
|
rs1555858785
|
|
NM_020433.5(JPH2):c.624C>G (p.Ala208=)
|
rs398124358
|
|
NM_020433.5(JPH2):c.649G>T (p.Gly217Cys)
|
rs1346458604
|
|
NM_020433.5(JPH2):c.673G>A (p.Ala225Thr)
|
rs1456694324
|
|
NM_020433.5(JPH2):c.694C>T (p.Arg232Cys)
|
rs1002693181
|
|
NM_020433.5(JPH2):c.910G>T (p.Gly304Cys)
|
rs2072594160
|
|
NM_020433.5(JPH2):c.919G>A (p.Glu307Lys)
|
rs866434937
|
|
NM_020433.5(JPH2):c.944A>G (p.Glu315Gly)
|
rs1339779323
|
|
NM_020433.5(JPH2):c.985A>G (p.Thr329Ala)
|
rs1555858673
|
|