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.2073T>C (p.Phe691=)
|
rs6093935
|
0.33656
|
NM_020433.5(JPH2):c.*14+173A>G
|
rs56170305
|
0.33284
|
NM_020433.5(JPH2):c.1728C>G (p.Pro576=)
|
rs74352869
|
0.22485
|
NM_020433.5(JPH2):c.-401G>A
|
rs41279278
|
0.20507
|
NM_020433.5(JPH2):c.1186G>A (p.Ala396Thr)
|
rs3810510
|
0.19815
|
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.1179C>T (p.His393=)
|
rs7268512
|
0.08526
|
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.380-6C>T
|
rs201197277
|
0.00201
|
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.565G>A (p.Ala189Thr)
|
rs730880254
|
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.2010+11C>T
|
rs201615229
|
0.00051
|
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.1704C>T (p.Ser568=)
|
rs200892606
|
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.1731G>A (p.Glu577=)
|
rs530433203
|
0.00032
|
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.1808C>T (p.Pro603Leu)
|
rs199845988
|
0.00024
|
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.2052C>T (p.Asn684=)
|
rs779977095
|
0.00016
|
NM_020433.5(JPH2):c.1465G>A (p.Gly489Arg)
|
rs1446439010
|
0.00015
|
NM_020433.5(JPH2):c.579C>T (p.Pro193=)
|
rs534491843
|
0.00015
|
NM_020433.5(JPH2):c.1271C>T (p.Pro424Leu)
|
rs375446898
|
0.00013
|
NM_020433.5(JPH2):c.1357C>T (p.Pro453Ser)
|
rs556886570
|
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.1732C>A (p.Pro578Thr)
|
rs746846724
|
0.00010
|
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.702G>A (p.Glu234=)
|
rs539149173
|
0.00008
|
NM_020433.5(JPH2):c.829G>T (p.Ala277Ser)
|
rs368516996
|
0.00008
|
NM_020433.5(JPH2):c.996C>T (p.Pro332=)
|
rs754651910
|
0.00008
|
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.1272G>A (p.Pro424=)
|
rs113719056
|
0.00006
|
NM_020433.5(JPH2):c.1433C>T (p.Pro478Leu)
|
rs970525996
|
0.00006
|
NM_020433.5(JPH2):c.1486C>T (p.Arg496Trp)
|
rs863224775
|
0.00006
|
NM_020433.5(JPH2):c.1771G>A (p.Gly591Arg)
|
rs751914931
|
0.00006
|
NM_020433.5(JPH2):c.1977A>G (p.Ala659=)
|
rs148093975
|
0.00006
|
NM_020433.5(JPH2):c.349G>A (p.Gly117Ser)
|
rs1414551155
|
0.00006
|
NM_020433.5(JPH2):c.380-20C>T
|
rs779167207
|
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.819C>A (p.Ala273=)
|
rs753387666
|
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.1202C>T (p.Ala401Val)
|
rs774001072
|
0.00004
|
NM_020433.5(JPH2):c.1212C>T (p.Ala404=)
|
rs781376425
|
0.00004
|
NM_020433.5(JPH2):c.1246C>T (p.Arg416Cys)
|
rs794729025
|
0.00004
|
NM_020433.5(JPH2):c.1282C>T (p.Gln428Ter)
|
rs199896820
|
0.00004
|
NM_020433.5(JPH2):c.1348C>T (p.Leu450=)
|
rs932394965
|
0.00004
|
NM_020433.5(JPH2):c.1395G>A (p.Pro465=)
|
rs890379843
|
0.00004
|
NM_020433.5(JPH2):c.1476G>T (p.Pro492=)
|
rs892497789
|
0.00004
|
NM_020433.5(JPH2):c.1658C>T (p.Ala553Val)
|
rs200422043
|
0.00004
|
NM_020433.5(JPH2):c.1787C>T (p.Pro596Leu)
|
rs1376826403
|
0.00004
|
NM_020433.5(JPH2):c.1812G>T (p.Leu604=)
|
rs780290036
|
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.843C>T (p.Ala281=)
|
rs151305680
|
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.1288+15G>C
|
rs369115643
|
0.00003
|
NM_020433.5(JPH2):c.1363C>T (p.Arg455Trp)
|
rs767514641
|
0.00003
|
NM_020433.5(JPH2):c.1577C>T (p.Pro526Leu)
|
rs756327822
|
0.00003
|
NM_020433.5(JPH2):c.1582G>A (p.Glu528Lys)
|
rs794729026
|
0.00003
|
NM_020433.5(JPH2):c.1640C>T (p.Ala547Val)
|
rs772283505
|
0.00003
|
NM_020433.5(JPH2):c.1715G>A (p.Arg572His)
|
rs763423903
|
0.00003
|
NM_020433.5(JPH2):c.1720A>G (p.Thr574Ala)
|
rs773306912
|
0.00003
|
NM_020433.5(JPH2):c.1858G>A (p.Ala620Thr)
|
rs769284597
|
0.00003
|
NM_020433.5(JPH2):c.1867G>C (p.Glu623Gln)
|
rs750828996
|
0.00003
|
NM_020433.5(JPH2):c.1890A>G (p.Lys630=)
|
rs764093410
|
0.00003
|
NM_020433.5(JPH2):c.2011-15C>T
|
rs755656916
|
0.00003
|
NM_020433.5(JPH2):c.243C>T (p.Leu81=)
|
rs760086204
|
0.00003
|
NM_020433.5(JPH2):c.327C>A (p.Thr109=)
|
rs1245114185
|
0.00003
|
NM_020433.5(JPH2):c.379+20C>T
|
rs551866698
|
0.00003
|
NM_020433.5(JPH2):c.405C>T (p.Asn135=)
|
rs140538587
|
0.00003
|
NM_020433.5(JPH2):c.457G>A (p.Val153Met)
|
rs747722861
|
0.00003
|
NM_020433.5(JPH2):c.48G>T (p.Gly16=)
|
rs917953744
|
0.00003
|
NM_020433.5(JPH2):c.537T>C (p.Ser179=)
|
rs886038779
|
0.00003
|
NM_020433.5(JPH2):c.669G>A (p.Arg223=)
|
rs1169464584
|
0.00003
|
NM_020433.5(JPH2):c.77A>G (p.His26Arg)
|
rs141664528
|
0.00003
|
NM_020433.5(JPH2):c.8G>A (p.Gly3Glu)
|
rs746138065
|
0.00003
|
NM_020433.5(JPH2):c.943G>A (p.Glu315Lys)
|
rs768672949
|
0.00003
|
NM_020433.5(JPH2):c.1344C>T (p.Ser448=)
|
rs886038859
|
0.00002
|
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.159C>T (p.Thr53=)
|
rs773186875
|
0.00002
|
NM_020433.5(JPH2):c.1736C>T (p.Pro579Leu)
|
rs953353202
|
0.00002
|
NM_020433.5(JPH2):c.1772G>T (p.Gly591Val)
|
rs766721028
|
0.00002
|
NM_020433.5(JPH2):c.1777G>A (p.Glu593Lys)
|
rs1160134535
|
0.00002
|
NM_020433.5(JPH2):c.1790C>G (p.Ser597Trp)
|
rs775179837
|
0.00002
|
NM_020433.5(JPH2):c.1851G>A (p.Glu617=)
|
rs759468707
|
0.00002
|
NM_020433.5(JPH2):c.1863G>A (p.Lys621=)
|
rs754623679
|
0.00002
|
NM_020433.5(JPH2):c.1951A>G (p.Lys651Glu)
|
rs778410296
|
0.00002
|
NM_020433.5(JPH2):c.2055C>T (p.Ile685=)
|
rs184307455
|
0.00002
|
NM_020433.5(JPH2):c.306C>T (p.Ser102=)
|
rs779455211
|
0.00002
|
NM_020433.5(JPH2):c.30T>C (p.Asp10=)
|
rs749155813
|
0.00002
|
NM_020433.5(JPH2):c.541G>A (p.Ala181Thr)
|
rs1304705938
|
0.00002
|
NM_020433.5(JPH2):c.612C>T (p.Leu204=)
|
rs922166422
|
0.00002
|
NM_020433.5(JPH2):c.633C>T (p.Ala211=)
|
rs1372602717
|
0.00002
|
NM_020433.5(JPH2):c.820G>A (p.Asp274Asn)
|
rs376694047
|
0.00002
|
NM_020433.5(JPH2):c.909C>T (p.Phe303=)
|
rs199637403
|
0.00002
|
NM_020433.5(JPH2):c.*15A>T
|
rs561604738
|
0.00001
|
NM_020433.5(JPH2):c.1041C>A (p.Val347=)
|
rs1035583608
|
0.00001
|
NM_020433.5(JPH2):c.1057C>T (p.Arg353Cys)
|
rs749245252
|
0.00001
|
NM_020433.5(JPH2):c.1132G>A (p.Ala378Thr)
|
rs770866282
|
0.00001
|
NM_020433.5(JPH2):c.1141C>T (p.Arg381Cys)
|
rs768172413
|
0.00001
|
NM_020433.5(JPH2):c.1142G>T (p.Arg381Leu)
|
rs746668155
|
0.00001
|
NM_020433.5(JPH2):c.1155G>A (p.Glu385=)
|
rs756604823
|
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.1203G>A (p.Ala401=)
|
rs138017620
|
0.00001
|
NM_020433.5(JPH2):c.1238A>G (p.Asn413Ser)
|
rs778937072
|
0.00001
|
NM_020433.5(JPH2):c.1240A>G (p.Ile414Val)
|
rs537544755
|
0.00001
|
NM_020433.5(JPH2):c.1247G>T (p.Arg416Leu)
|
rs190802013
|
0.00001
|
NM_020433.5(JPH2):c.1251T>G (p.Thr417=)
|
rs1336473590
|
0.00001
|
NM_020433.5(JPH2):c.1267G>T (p.Ala423Ser)
|
rs753716480
|
0.00001
|
NM_020433.5(JPH2):c.1289-8C>T
|
rs1487982810
|
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.1317G>A (p.Leu439=)
|
rs1339404249
|
0.00001
|
NM_020433.5(JPH2):c.1364G>A (p.Arg455Gln)
|
rs1216784399
|
0.00001
|
NM_020433.5(JPH2):c.1394C>T (p.Pro465Leu)
|
rs908189174
|
0.00001
|
NM_020433.5(JPH2):c.1430C>G (p.Thr477Ser)
|
rs1442070249
|
0.00001
|
NM_020433.5(JPH2):c.1431C>T (p.Thr477=)
|
rs1057524121
|
0.00001
|
NM_020433.5(JPH2):c.1436G>T (p.Arg479Leu)
|
rs1229570054
|
0.00001
|
NM_020433.5(JPH2):c.1460C>A (p.Pro487Gln)
|
rs1413584228
|
0.00001
|
NM_020433.5(JPH2):c.1461G>A (p.Pro487=)
|
rs781613132
|
0.00001
|
NM_020433.5(JPH2):c.1489C>T (p.Pro497Ser)
|
rs1413237923
|
0.00001
|
NM_020433.5(JPH2):c.1508A>G (p.Lys503Arg)
|
rs1457124939
|
0.00001
|
NM_020433.5(JPH2):c.1540G>A (p.Gly514Ser)
|
rs869025442
|
0.00001
|
NM_020433.5(JPH2):c.1551C>T (p.Ser517=)
|
rs1295638660
|
0.00001
|
NM_020433.5(JPH2):c.1568C>T (p.Ser523Leu)
|
rs1378737709
|
0.00001
|
NM_020433.5(JPH2):c.1589C>T (p.Ala530Val)
|
rs754961884
|
0.00001
|
NM_020433.5(JPH2):c.1603C>A (p.Pro535Thr)
|
rs908217758
|
0.00001
|
NM_020433.5(JPH2):c.1659G>A (p.Ala553=)
|
rs749392070
|
0.00001
|
NM_020433.5(JPH2):c.1662G>A (p.Pro554=)
|
rs748323930
|
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.168C>T (p.Ser56=)
|
rs748126772
|
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.1718C>T (p.Thr573Ile)
|
rs1316615185
|
0.00001
|
NM_020433.5(JPH2):c.1722G>A (p.Thr574=)
|
rs769828263
|
0.00001
|
NM_020433.5(JPH2):c.1727C>T (p.Pro576Leu)
|
rs1381167166
|
0.00001
|
NM_020433.5(JPH2):c.1729G>A (p.Glu577Lys)
|
rs181096982
|
0.00001
|
NM_020433.5(JPH2):c.1740C>A (p.Pro580=)
|
rs779868269
|
0.00001
|
NM_020433.5(JPH2):c.1750C>A (p.Gln584Lys)
|
rs730880253
|
0.00001
|
NM_020433.5(JPH2):c.1753C>T (p.Pro585Ser)
|
rs745760392
|
0.00001
|
NM_020433.5(JPH2):c.1758G>A (p.Glu586=)
|
rs753383507
|
0.00001
|
NM_020433.5(JPH2):c.1770C>T (p.Ser590=)
|
rs755757325
|
0.00001
|
NM_020433.5(JPH2):c.1781C>T (p.Ser594Phe)
|
rs1036911295
|
0.00001
|
NM_020433.5(JPH2):c.1788C>T (p.Pro596=)
|
rs760929264
|
0.00001
|
NM_020433.5(JPH2):c.1803C>T (p.Thr601=)
|
rs1060503799
|
0.00001
|
NM_020433.5(JPH2):c.1838A>G (p.Glu613Gly)
|
rs753914193
|
0.00001
|
NM_020433.5(JPH2):c.1846C>T (p.Arg616Cys)
|
rs543276833
|
0.00001
|
NM_020433.5(JPH2):c.1847G>T (p.Arg616Leu)
|
rs200081425
|
0.00001
|
NM_020433.5(JPH2):c.1862A>G (p.Lys621Arg)
|
rs2072184846
|
0.00001
|
NM_020433.5(JPH2):c.1901G>A (p.Arg634Lys)
|
rs759806993
|
0.00001
|
NM_020433.5(JPH2):c.1932G>A (p.Gly644=)
|
rs1037983273
|
0.00001
|
NM_020433.5(JPH2):c.1948G>A (p.Ala650Thr)
|
rs111319388
|
0.00001
|
NM_020433.5(JPH2):c.1982C>A (p.Ala661Glu)
|
rs1026714361
|
0.00001
|
NM_020433.5(JPH2):c.1990G>A (p.Ala664Thr)
|
rs886039086
|
0.00001
|
NM_020433.5(JPH2):c.1991C>T (p.Ala664Val)
|
rs766295044
|
0.00001
|
NM_020433.5(JPH2):c.220A>G (p.Ile74Val)
|
rs1197530646
|
0.00001
|
NM_020433.5(JPH2):c.226A>G (p.Thr76Ala)
|
rs764474492
|
0.00001
|
NM_020433.5(JPH2):c.252C>T (p.Gly84=)
|
rs763286384
|
0.00001
|
NM_020433.5(JPH2):c.277C>T (p.Arg93Cys)
|
rs747893109
|
0.00001
|
NM_020433.5(JPH2):c.278G>A (p.Arg93His)
|
rs1131692244
|
0.00001
|
NM_020433.5(JPH2):c.290G>A (p.Arg97Gln)
|
rs1188450169
|
0.00001
|
NM_020433.5(JPH2):c.302G>A (p.Ser101Asn)
|
rs1281048375
|
0.00001
|
NM_020433.5(JPH2):c.363G>A (p.Glu121=)
|
rs753073876
|
0.00001
|
NM_020433.5(JPH2):c.379+17G>A
|
rs765611071
|
0.00001
|
NM_020433.5(JPH2):c.379+19C>T
|
rs776341751
|
0.00001
|
NM_020433.5(JPH2):c.385T>G (p.Tyr129Asp)
|
rs777856415
|
0.00001
|
NM_020433.5(JPH2):c.406G>A (p.Gly136Ser)
|
rs767281714
|
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.515A>G (p.Asn172Ser)
|
rs1170915460
|
0.00001
|
NM_020433.5(JPH2):c.535T>C (p.Ser179Pro)
|
rs1272379812
|
0.00001
|
NM_020433.5(JPH2):c.543C>T (p.Ala181=)
|
rs2072600286
|
0.00001
|
NM_020433.5(JPH2):c.559G>A (p.Gly187Ser)
|
rs869025440
|
0.00001
|
NM_020433.5(JPH2):c.575C>T (p.Ser192Leu)
|
rs1481973487
|
0.00001
|
NM_020433.5(JPH2):c.611T>G (p.Leu204Arg)
|
rs1369796322
|
0.00001
|
NM_020433.5(JPH2):c.620A>G (p.Asn207Ser)
|
rs976272461
|
0.00001
|
NM_020433.5(JPH2):c.641C>A (p.Ala214Glu)
|
rs952147058
|
0.00001
|
NM_020433.5(JPH2):c.655G>T (p.Gly219Cys)
|
rs1251565277
|
0.00001
|
NM_020433.5(JPH2):c.665A>G (p.Gln222Arg)
|
rs766395991
|
0.00001
|
NM_020433.5(JPH2):c.678G>C (p.Leu226=)
|
rs1414276112
|
0.00001
|
NM_020433.5(JPH2):c.687G>A (p.Lys229=)
|
rs1372719506
|
0.00001
|
NM_020433.5(JPH2):c.696C>T (p.Arg232=)
|
rs1419966903
|
0.00001
|
NM_020433.5(JPH2):c.714C>G (p.Ser238=)
|
rs772581238
|
0.00001
|
NM_020433.5(JPH2):c.723C>G (p.Ser241Arg)
|
rs587782952
|
0.00001
|
NM_020433.5(JPH2):c.72T>C (p.His24=)
|
rs754405775
|
0.00001
|
NM_020433.5(JPH2):c.769G>A (p.Ala257Thr)
|
rs866617430
|
0.00001
|
NM_020433.5(JPH2):c.782C>T (p.Ala261Val)
|
rs2072597044
|
0.00001
|
NM_020433.5(JPH2):c.810C>A (p.Ala270=)
|
rs779680763
|
0.00001
|
NM_020433.5(JPH2):c.833C>G (p.Pro278Arg)
|
rs1226206290
|
0.00001
|
NM_020433.5(JPH2):c.837C>T (p.Phe279=)
|
rs773521151
|
0.00001
|
NM_020433.5(JPH2):c.838G>A (p.Glu280Lys)
|
rs748282723
|
0.00001
|
NM_020433.5(JPH2):c.854C>A (p.Ala285Asp)
|
rs1252094258
|
0.00001
|
NM_020433.5(JPH2):c.915G>A (p.Val305=)
|
rs952136880
|
0.00001
|
NM_020433.5(JPH2):c.962A>G (p.Asn321Ser)
|
rs373731005
|
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
|
|
|
NC_000020.10:g.(?_42743436)_(42815345_?)dup
|
|
|
NC_000020.10:g.(?_42788248)_(42815355_?)del
|
|
|
NC_000020.10:g.(?_42814947)_(42815345_?)dup
|
|
|
NC_000020.11:g.(?_44186317)_(44186715_?)dup
|
|
|
NM_020433.4(JPH2):c.493_514delinsC (p.Ser165_Asn172delinsHis)
|
rs1555858801
|
|
NM_020433.5(JPH2):c.*14+15C>T
|
rs1057524316
|
|
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.-4T>A
|
|
|
NM_020433.5(JPH2):c.1004A>G (p.His335Arg)
|
|
|
NM_020433.5(JPH2):c.1011G>A (p.Glu337=)
|
|
|
NM_020433.5(JPH2):c.1013A>G (p.Glu338Gly)
|
|
|
NM_020433.5(JPH2):c.1016G>A (p.Gly339Asp)
|
|
|
NM_020433.5(JPH2):c.1017C>G (p.Gly339=)
|
|
|
NM_020433.5(JPH2):c.101G>A (p.Gly34Asp)
|
|
|
NM_020433.5(JPH2):c.1020G>A (p.Lys340=)
|
|
|
NM_020433.5(JPH2):c.1022A>G (p.Tyr341Cys)
|
|
|
NM_020433.5(JPH2):c.1025G>A (p.Arg342His)
|
|
|
NM_020433.5(JPH2):c.1041C>T (p.Val347=)
|
|
|
NM_020433.5(JPH2):c.1043A>G (p.Lys348Arg)
|
|
|
NM_020433.5(JPH2):c.1049C>A (p.Thr350Asn)
|
|
|
NM_020433.5(JPH2):c.1054C>T (p.Arg352Cys)
|
|
|
NM_020433.5(JPH2):c.1058G>A (p.Arg353His)
|
|
|
NM_020433.5(JPH2):c.1062G>C (p.Met354Ile)
|
rs546800323
|
|
NM_020433.5(JPH2):c.1066C>T (p.Gln356Ter)
|
|
|
NM_020433.5(JPH2):c.1068G>T (p.Gln356His)
|
|
|
NM_020433.5(JPH2):c.1073A>G (p.Lys358Arg)
|
|
|
NM_020433.5(JPH2):c.1077C>T (p.Ser359=)
|
|
|
NM_020433.5(JPH2):c.1079A>T (p.Asn360Ile)
|
|
|
NM_020433.5(JPH2):c.107G>A (p.Gly36Asp)
|
|
|
NM_020433.5(JPH2):c.1081A>C (p.Lys361Gln)
|
|
|
NM_020433.5(JPH2):c.1081A>G (p.Lys361Glu)
|
|
|
NM_020433.5(JPH2):c.1083G>T (p.Lys361Asn)
|
rs971528622
|
|
NM_020433.5(JPH2):c.1087C>T (p.Arg363Cys)
|
|
|
NM_020433.5(JPH2):c.1088G>A (p.Arg363His)
|
rs757549568
|
|
NM_020433.5(JPH2):c.1089C>T (p.Arg363=)
|
|
|
NM_020433.5(JPH2):c.108C>A (p.Gly36=)
|
|
|
NM_020433.5(JPH2):c.108C>T (p.Gly36=)
|
|
|
NM_020433.5(JPH2):c.1090C>T (p.Gln364Ter)
|
rs794729024
|
|
NM_020433.5(JPH2):c.109G>A (p.Glu37Lys)
|
|
|
NM_020433.5(JPH2):c.109G>C (p.Glu37Gln)
|
rs1427861059
|
|
NM_020433.5(JPH2):c.1103A>G (p.His368Arg)
|
|
|
NM_020433.5(JPH2):c.1106G>C (p.Ser369Thr)
|
rs1600857310
|
|
NM_020433.5(JPH2):c.1109T>C (p.Val370Ala)
|
|
|
NM_020433.5(JPH2):c.1115G>A (p.Gly372Asp)
|
|
|
NM_020433.5(JPH2):c.1123C>T (p.Arg375Cys)
|
rs1199319789
|
|
NM_020433.5(JPH2):c.1128C>A (p.Ala376=)
|
|
|
NM_020433.5(JPH2):c.1131T>A (p.Ala377=)
|
|
|
NM_020433.5(JPH2):c.1137C>T (p.Ile379=)
|
rs143158930
|
|
NM_020433.5(JPH2):c.1139C>A (p.Ala380Glu)
|
rs1216466447
|
|
NM_020433.5(JPH2):c.1139C>T (p.Ala380Val)
|
|
|
NM_020433.5(JPH2):c.1140G>A (p.Ala380=)
|
|
|
NM_020433.5(JPH2):c.1142G>A (p.Arg381His)
|
|
|
NM_020433.5(JPH2):c.1148_1156del (p.Lys383_Glu385del)
|
|
|
NM_020433.5(JPH2):c.1149G>A (p.Lys383=)
|
rs754243118
|
|
NM_020433.5(JPH2):c.114C>T (p.Tyr38=)
|
rs1555862424
|
|
NM_020433.5(JPH2):c.1161C>A (p.Ala387=)
|
rs368697672
|
|
NM_020433.5(JPH2):c.1161C>T (p.Ala387=)
|
|
|
NM_020433.5(JPH2):c.1162G>A (p.Ala388Thr)
|
|
|
NM_020433.5(JPH2):c.1169+11G>A
|
|
|
NM_020433.5(JPH2):c.1169+16G>A
|
rs375515254
|
|
NM_020433.5(JPH2):c.1169+16G>C
|
rs375515254
|
|
NM_020433.5(JPH2):c.1169+16G>T
|
|
|
NM_020433.5(JPH2):c.1169+18G>C
|
rs761686789
|
|
NM_020433.5(JPH2):c.1169+20G>T
|
|
|
NM_020433.5(JPH2):c.1169+248del
|
rs199566074
|
|
NM_020433.5(JPH2):c.1169+8A>G
|
rs1172047219
|
|
NM_020433.5(JPH2):c.1170-17C>A
|
|
|
NM_020433.5(JPH2):c.1170-278A>C
|
rs183116678
|
|
NM_020433.5(JPH2):c.1170-3T>C
|
|
|
NM_020433.5(JPH2):c.1171A>G (p.Thr391Ala)
|
|
|
NM_020433.5(JPH2):c.1173A>G (p.Thr391=)
|
|
|
NM_020433.5(JPH2):c.1180_1181del (p.Ala394fs)
|
|
|
NM_020433.5(JPH2):c.1181C>G (p.Ala394Gly)
|
rs764133875
|
|
NM_020433.5(JPH2):c.1185_1186delinsAA (p.Ala396Thr)
|
rs1060503798
|
|
NM_020433.5(JPH2):c.1188C>G (p.Ala396=)
|
|
|
NM_020433.5(JPH2):c.1207C>G (p.Gln403Glu)
|
rs955381296
|
|
NM_020433.5(JPH2):c.1212C>A (p.Ala404=)
|
|
|
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.1220C>A (p.Ala407Asp)
|
rs2072210950
|
|
NM_020433.5(JPH2):c.1227C>G (p.Asn409Lys)
|
rs869025441
|
|
NM_020433.5(JPH2):c.1232A>C (p.Glu411Ala)
|
|
|
NM_020433.5(JPH2):c.1235C>G (p.Ser412Cys)
|
rs1004964815
|
|
NM_020433.5(JPH2):c.1243G>T (p.Ala415Ser)
|
|
|
NM_020433.5(JPH2):c.1247G>A (p.Arg416His)
|
rs190802013
|
|
NM_020433.5(JPH2):c.1249A>G (p.Thr417Ala)
|
|
|
NM_020433.5(JPH2):c.1263G>T (p.Glu421Asp)
|
|
|
NM_020433.5(JPH2):c.1275C>A (p.Asp425Glu)
|
rs2145840509
|
|
NM_020433.5(JPH2):c.1288+10G>C
|
|
|
NM_020433.5(JPH2):c.1288+13A>G
|
|
|
NM_020433.5(JPH2):c.1288+19G>A
|
|
|
NM_020433.5(JPH2):c.1288+20G>A
|
|
|
NM_020433.5(JPH2):c.1288+4G>A
|
rs1012633542
|
|
NM_020433.5(JPH2):c.1288+6del
|
|
|
NM_020433.5(JPH2):c.1288+8_1288+36del
|
|
|
NM_020433.5(JPH2):c.1289-13G>C
|
|
|
NM_020433.5(JPH2):c.1289-34G>T
|
rs116625075
|
|
NM_020433.5(JPH2):c.1296A>G (p.Glu432=)
|
|
|
NM_020433.5(JPH2):c.1296del (p.Glu432fs)
|
|
|
NM_020433.5(JPH2):c.1309C>T (p.Arg437Trp)
|
|
|
NM_020433.5(JPH2):c.1311G>T (p.Arg437=)
|
|
|
NM_020433.5(JPH2):c.1314G>A (p.Leu438=)
|
|
|
NM_020433.5(JPH2):c.1321G>A (p.Glu441Lys)
|
|
|
NM_020433.5(JPH2):c.1322A>T (p.Glu441Val)
|
|
|
NM_020433.5(JPH2):c.1324A>G (p.Ile442Val)
|
|
|
NM_020433.5(JPH2):c.1326C>T (p.Ile442=)
|
rs2145838921
|
|
NM_020433.5(JPH2):c.1328T>C (p.Leu443Pro)
|
|
|
NM_020433.5(JPH2):c.1332G>T (p.Glu444Asp)
|
|
|
NM_020433.5(JPH2):c.1342A>G (p.Ser448Gly)
|
|
|
NM_020433.5(JPH2):c.1353G>A (p.Glu451=)
|
|
|
NM_020433.5(JPH2):c.1355C>T (p.Pro452Leu)
|
|
|
NM_020433.5(JPH2):c.1359C>T (p.Pro453=)
|
|
|
NM_020433.5(JPH2):c.1359_1388del (p.Asp454_Pro463del)
|
rs2145838837
|
|
NM_020433.5(JPH2):c.1360G>A (p.Asp454Asn)
|
|
|
NM_020433.5(JPH2):c.1361A>C (p.Asp454Ala)
|
|
|
NM_020433.5(JPH2):c.1363C>A (p.Arg455=)
|
|
|
NM_020433.5(JPH2):c.1367G>A (p.Gly456Asp)
|
|
|
NM_020433.5(JPH2):c.1374C>A (p.Gly458=)
|
|
|
NM_020433.5(JPH2):c.1374C>T (p.Gly458=)
|
|
|
NM_020433.5(JPH2):c.1375G>A (p.Ala459Thr)
|
|
|
NM_020433.5(JPH2):c.1375G>T (p.Ala459Ser)
|
|
|
NM_020433.5(JPH2):c.1376C>A (p.Ala459Glu)
|
|
|
NM_020433.5(JPH2):c.1379C>T (p.Ala460Val)
|
|
|
NM_020433.5(JPH2):c.1382G>A (p.Gly461Asp)
|
|
|
NM_020433.5(JPH2):c.1386C>T (p.Leu462=)
|
|
|
NM_020433.5(JPH2):c.1393C>T (p.Pro465Ser)
|
|
|
NM_020433.5(JPH2):c.1396C>T (p.Pro466Ser)
|
|
|
NM_020433.5(JPH2):c.1399C>G (p.Arg467Gly)
|
rs984065543
|
|
NM_020433.5(JPH2):c.1400G>A (p.Arg467His)
|
|
|
NM_020433.5(JPH2):c.1402G>A (p.Glu468Lys)
|
|
|
NM_020433.5(JPH2):c.1409C>T (p.Pro470Leu)
|
rs1312283242
|
|
NM_020433.5(JPH2):c.140A>C (p.Glu47Ala)
|
rs2072846446
|
|
NM_020433.5(JPH2):c.1410G>T (p.Pro470=)
|
rs751126526
|
|
NM_020433.5(JPH2):c.1414_1415delinsGG (p.Leu472Gly)
|
rs2145838792
|
|
NM_020433.5(JPH2):c.1417C>T (p.His473Tyr)
|
|
|
NM_020433.5(JPH2):c.1419C>T (p.His473=)
|
rs1471827464
|
|
NM_020433.5(JPH2):c.1423C>T (p.Arg475Cys)
|
|
|
NM_020433.5(JPH2):c.1430C>A (p.Thr477Asn)
|
|
|
NM_020433.5(JPH2):c.1435C>A (p.Arg479=)
|
rs1273688341
|
|
NM_020433.5(JPH2):c.1437G>T (p.Arg479=)
|
rs2145838750
|
|
NM_020433.5(JPH2):c.1438C>T (p.Pro480Ser)
|
|
|
NM_020433.5(JPH2):c.1440C>T (p.Pro480=)
|
|
|
NM_020433.5(JPH2):c.1441G>A (p.Glu481Lys)
|
|
|
NM_020433.5(JPH2):c.1442A>C (p.Glu481Ala)
|
|
|
NM_020433.5(JPH2):c.1445G>A (p.Gly482Asp)
|
|
|
NM_020433.5(JPH2):c.144G>A (p.Val48=)
|
|
|
NM_020433.5(JPH2):c.1452C>T (p.Ser484=)
|
|
|
NM_020433.5(JPH2):c.1454C>T (p.Pro485Leu)
|
rs1085307656
|
|
NM_020433.5(JPH2):c.1459C>T (p.Pro487Ser)
|
|
|
NM_020433.5(JPH2):c.1460C>T (p.Pro487Leu)
|
|
|
NM_020433.5(JPH2):c.1464C>A (p.Ala488=)
|
rs1060499997
|
|
NM_020433.5(JPH2):c.1464C>G (p.Ala488=)
|
|
|
NM_020433.5(JPH2):c.1472C>A (p.Pro491His)
|
|
|
NM_020433.5(JPH2):c.1473C>G (p.Pro491=)
|
|
|
NM_020433.5(JPH2):c.1477C>T (p.Gln493Ter)
|
rs2072190444
|
|
NM_020433.5(JPH2):c.147A>G (p.Ala49=)
|
|
|
NM_020433.5(JPH2):c.1487G>A (p.Arg496Gln)
|
rs1404072085
|
|
NM_020433.5(JPH2):c.1512C>T (p.Asp504=)
|
rs2145838656
|
|
NM_020433.5(JPH2):c.1513G>C (p.Gly505Arg)
|
rs140740776
|
|
NM_020433.5(JPH2):c.1516C>G (p.Leu506Val)
|
|
|
NM_020433.5(JPH2):c.1516C>T (p.Leu506=)
|
|
|
NM_020433.5(JPH2):c.1521G>A (p.Leu507=)
|
|
|
NM_020433.5(JPH2):c.1523G>A (p.Ser508Asn)
|
|
|
NM_020433.5(JPH2):c.1529G>A (p.Gly510Asp)
|
|
|
NM_020433.5(JPH2):c.1539C>T (p.Asn513=)
|
rs1377444830
|
|
NM_020433.5(JPH2):c.1550G>A (p.Ser517Asn)
|
|
|
NM_020433.5(JPH2):c.1551C>A (p.Ser517Arg)
|
rs1295638660
|
|
NM_020433.5(JPH2):c.1552G>A (p.Gly518Ser)
|
|
|
NM_020433.5(JPH2):c.1552G>T (p.Gly518Cys)
|
rs926337524
|
|
NM_020433.5(JPH2):c.1562G>A (p.Ser521Asn)
|
rs1057524375
|
|
NM_020433.5(JPH2):c.1563C>T (p.Ser521=)
|
|
|
NM_020433.5(JPH2):c.1573A>G (p.Thr525Ala)
|
|
|
NM_020433.5(JPH2):c.1581C>A (p.Ser527=)
|
|
|
NM_020433.5(JPH2):c.1587C>A (p.Gly529=)
|
rs780938930
|
|
NM_020433.5(JPH2):c.1598G>A (p.Arg533His)
|
|
|
NM_020433.5(JPH2):c.1603C>T (p.Pro535Ser)
|
rs908217758
|
|
NM_020433.5(JPH2):c.1622A>G (p.Glu541Gly)
|
|
|
NM_020433.5(JPH2):c.1624C>T (p.Arg542Cys)
|
|
|
NM_020433.5(JPH2):c.1625G>A (p.Arg542His)
|
|
|
NM_020433.5(JPH2):c.1625G>T (p.Arg542Leu)
|
rs369279135
|
|
NM_020433.5(JPH2):c.1630G>A (p.Ala544Thr)
|
rs761535957
|
|
NM_020433.5(JPH2):c.1635C>T (p.Ile545=)
|
rs964166503
|
|
NM_020433.5(JPH2):c.1645C>T (p.Gln549Ter)
|
rs1260496472
|
|
NM_020433.5(JPH2):c.1648G>T (p.Ala550Ser)
|
|
|
NM_020433.5(JPH2):c.164C>T (p.Pro55Leu)
|
rs1060499996
|
|
NM_020433.5(JPH2):c.1652C>T (p.Pro551Leu)
|
|
|
NM_020433.5(JPH2):c.1653G>A (p.Pro551=)
|
|
|
NM_020433.5(JPH2):c.1655C>T (p.Pro552Leu)
|
rs876657833
|
|
NM_020433.5(JPH2):c.1661C>T (p.Pro554Leu)
|
|
|
NM_020433.5(JPH2):c.1665G>A (p.Ser555=)
|
rs398124357
|
|
NM_020433.5(JPH2):c.1666C>G (p.Arg556Gly)
|
|
|
NM_020433.5(JPH2):c.1666C>T (p.Arg556Trp)
|
|
|
NM_020433.5(JPH2):c.1674G>A (p.Pro558=)
|
|
|
NM_020433.5(JPH2):c.1674G>T (p.Pro558=)
|
|
|
NM_020433.5(JPH2):c.1676A>C (p.Glu559Ala)
|
|
|
NM_020433.5(JPH2):c.1677G>A (p.Glu559=)
|
|
|
NM_020433.5(JPH2):c.1682C>T (p.Ala561Val)
|
|
|
NM_020433.5(JPH2):c.1689C>G (p.Tyr563Ter)
|
|
|
NM_020433.5(JPH2):c.1689C>T (p.Tyr563=)
|
rs757000497
|
|
NM_020433.5(JPH2):c.1699C>T (p.His567Tyr)
|
|
|
NM_020433.5(JPH2):c.1699dup (p.His567fs)
|
|
|
NM_020433.5(JPH2):c.1712T>C (p.Val571Ala)
|
|
|
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.1725G>T (p.Pro575=)
|
rs1395732861
|
|
NM_020433.5(JPH2):c.1726C>T (p.Pro576Ser)
|
|
|
NM_020433.5(JPH2):c.1736C>G (p.Pro579Arg)
|
|
|
NM_020433.5(JPH2):c.1739C>A (p.Pro580His)
|
rs1162090571
|
|
NM_020433.5(JPH2):c.1739C>T (p.Pro580Leu)
|
|
|
NM_020433.5(JPH2):c.1747_1752dup (p.Gln584_Pro585insAspGln)
|
|
|
NM_020433.5(JPH2):c.1753CCCGAG[1] (p.585PE[1])
|
|
|
NM_020433.5(JPH2):c.1754C>T (p.Pro585Leu)
|
|
|
NM_020433.5(JPH2):c.1755C>T (p.Pro585=)
|
|
|
NM_020433.5(JPH2):c.1756G>A (p.Glu586Lys)
|
|
|
NM_020433.5(JPH2):c.1759_1779dup (p.Pro587_Glu593dup)
|
rs774773499
|
|
NM_020433.5(JPH2):c.1764G>A (p.Glu588=)
|
|
|
NM_020433.5(JPH2):c.176C>A (p.Thr59Asn)
|
|
|
NM_020433.5(JPH2):c.1772_1777dup (p.Ser592_Glu593insGlySer)
|
|
|
NM_020433.5(JPH2):c.1776C>T (p.Ser592=)
|
|
|
NM_020433.5(JPH2):c.1777G>C (p.Glu593Gln)
|
rs1160134535
|
|
NM_020433.5(JPH2):c.1778A>G (p.Glu593Gly)
|
rs1569180881
|
|
NM_020433.5(JPH2):c.1779G>A (p.Glu593=)
|
|
|
NM_020433.5(JPH2):c.1790C>T (p.Ser597Leu)
|
rs775179837
|
|
NM_020433.5(JPH2):c.1792_1797dup (p.Ser598_Pro599dup)
|
rs2145838238
|
|
NM_020433.5(JPH2):c.1795C>G (p.Pro599Ala)
|
|
|
NM_020433.5(JPH2):c.1795C>T (p.Pro599Ser)
|
|
|
NM_020433.5(JPH2):c.1796C>G (p.Pro599Arg)
|
|
|
NM_020433.5(JPH2):c.1796C>T (p.Pro599Leu)
|
|
|
NM_020433.5(JPH2):c.1799C>G (p.Ala600Gly)
|
rs1555853297
|
|
NM_020433.5(JPH2):c.1804G>A (p.Ala602Thr)
|
|
|
NM_020433.5(JPH2):c.1809G>A (p.Pro603=)
|
|
|
NM_020433.5(JPH2):c.1813C>G (p.Gln605Glu)
|
|
|
NM_020433.5(JPH2):c.1814A>G (p.Gln605Arg)
|
rs2145838201
|
|
NM_020433.5(JPH2):c.1817C>T (p.Ala606Val)
|
|
|
NM_020433.5(JPH2):c.1821C>A (p.Pro607=)
|
rs949299046
|
|
NM_020433.5(JPH2):c.1823C>A (p.Thr608Lys)
|
rs750776027
|
|
NM_020433.5(JPH2):c.1826T>C (p.Leu609Pro)
|
|
|
NM_020433.5(JPH2):c.1836C>A (p.Pro612=)
|
|
|
NM_020433.5(JPH2):c.1836C>G (p.Pro612=)
|
rs988341308
|
|
NM_020433.5(JPH2):c.1837G>A (p.Glu613Lys)
|
|
|
NM_020433.5(JPH2):c.1844C>T (p.Ala615Val)
|
|
|
NM_020433.5(JPH2):c.1845A>C (p.Ala615=)
|
|
|
NM_020433.5(JPH2):c.1851G>C (p.Glu617Asp)
|
rs759468707
|
|
NM_020433.5(JPH2):c.1853C>A (p.Thr618Asn)
|
|
|
NM_020433.5(JPH2):c.1857C>G (p.Pro619=)
|
|
|
NM_020433.5(JPH2):c.1857C>T (p.Pro619=)
|
|
|
NM_020433.5(JPH2):c.1861A>G (p.Lys621Glu)
|
|
|
NM_020433.5(JPH2):c.1871C>G (p.Pro624Arg)
|
|
|
NM_020433.5(JPH2):c.1872C>G (p.Pro624=)
|
|
|
NM_020433.5(JPH2):c.1879A>G (p.Ile627Val)
|
rs1259877706
|
|
NM_020433.5(JPH2):c.1882A>G (p.Ile628Val)
|
rs2145838095
|
|
NM_020433.5(JPH2):c.1888A>C (p.Lys630Gln)
|
rs1569180680
|
|
NM_020433.5(JPH2):c.1893C>T (p.Ala631=)
|
rs760865721
|
|
NM_020433.5(JPH2):c.1896G>A (p.Glu632=)
|
|
|
NM_020433.5(JPH2):c.1900A>G (p.Arg634Gly)
|
|
|
NM_020433.5(JPH2):c.1903G>C (p.Ala635Pro)
|
rs1409841420
|
|
NM_020433.5(JPH2):c.1904C>A (p.Ala635Asp)
|
rs2145838059
|
|
NM_020433.5(JPH2):c.1906A>G (p.Lys636Glu)
|
rs2145838058
|
|
NM_020433.5(JPH2):c.1911C>T (p.Ala637=)
|
|
|
NM_020433.5(JPH2):c.1917G>A (p.Lys639=)
|
|
|
NM_020433.5(JPH2):c.191G>A (p.Trp64Ter)
|
rs754529157
|
|
NM_020433.5(JPH2):c.1920dup (p.Glu641Ter)
|
rs2145838034
|
|
NM_020433.5(JPH2):c.1924G>A (p.Ala642Thr)
|
|
|
NM_020433.5(JPH2):c.1928G>C (p.Arg643Pro)
|
|
|
NM_020433.5(JPH2):c.1933C>T (p.Leu645=)
|
|
|
NM_020433.5(JPH2):c.1936A>G (p.Thr646Ala)
|
|
|
NM_020433.5(JPH2):c.1936A>T (p.Thr646Ser)
|
rs747762930
|
|
NM_020433.5(JPH2):c.1937C>G (p.Thr646Ser)
|
rs1600828763
|
|
NM_020433.5(JPH2):c.1942G>A (p.Ala648Thr)
|
|
|
NM_020433.5(JPH2):c.1944G>A (p.Ala648=)
|
|
|
NM_020433.5(JPH2):c.1948_1965dup (p.Ala650_Arg655dup)
|
rs1555853257
|
|
NM_020433.5(JPH2):c.1950C>A (p.Ala650=)
|
|
|
NM_020433.5(JPH2):c.1950C>G (p.Ala650=)
|
|
|
NM_020433.5(JPH2):c.1950C>T (p.Ala650=)
|
|
|
NM_020433.5(JPH2):c.1951AAG[2] (p.Lys653del)
|
rs111666278
|
|
NM_020433.5(JPH2):c.1958A>C (p.Lys653Thr)
|
|
|
NM_020433.5(JPH2):c.1961C>G (p.Ala654Gly)
|
|
|
NM_020433.5(JPH2):c.1961C>T (p.Ala654Val)
|
rs1175261037
|
|
NM_020433.5(JPH2):c.1962dup (p.Arg655fs)
|
rs2072183597
|
|
NM_020433.5(JPH2):c.1963C>T (p.Arg655Trp)
|
|
|
NM_020433.5(JPH2):c.1964G>A (p.Arg655Gln)
|
rs1569180563
|
|
NM_020433.5(JPH2):c.1975G>A (p.Ala659Thr)
|
rs1600828677
|
|
NM_020433.5(JPH2):c.1982C>T (p.Ala661Val)
|
|
|
NM_020433.5(JPH2):c.1984G>T (p.Ala662Ser)
|
|
|
NM_020433.5(JPH2):c.1987G>C (p.Glu663Gln)
|
rs886039170
|
|
NM_020433.5(JPH2):c.1989G>A (p.Glu663=)
|
rs995204674
|
|
NM_020433.5(JPH2):c.1990G>T (p.Ala664Ser)
|
|
|
NM_020433.5(JPH2):c.1991C>A (p.Ala664Glu)
|
rs766295044
|
|
NM_020433.5(JPH2):c.1992G>A (p.Ala664=)
|
rs781384540
|
|
NM_020433.5(JPH2):c.1995GGTGGA[3] (p.666VE[3])
|
rs763064503
|
|
NM_020433.5(JPH2):c.2006_2010+1dup
|
rs2072182869
|
|
NM_020433.5(JPH2):c.2010+12G>A
|
|
|
NM_020433.5(JPH2):c.2010+146G>C
|
rs6103631
|
|
NM_020433.5(JPH2):c.2010+5G>C
|
|
|
NM_020433.5(JPH2):c.2010+8T>C
|
|
|
NM_020433.5(JPH2):c.2011G>A (p.Val671Ile)
|
|
|
NM_020433.5(JPH2):c.2013C>G (p.Val671=)
|
|
|
NM_020433.5(JPH2):c.2015C>T (p.Pro672Leu)
|
|
|
NM_020433.5(JPH2):c.2018A>G (p.Asn673Ser)
|
rs781780252
|
|
NM_020433.5(JPH2):c.2021C>T (p.Thr674Ile)
|
|
|
NM_020433.5(JPH2):c.202A>C (p.Lys68Gln)
|
|
|
NM_020433.5(JPH2):c.2035A>G (p.Met679Val)
|
|
|
NM_020433.5(JPH2):c.2044CTG[1] (p.Leu683del)
|
rs2072175115
|
|
NM_020433.5(JPH2):c.2056G>A (p.Gly686Ser)
|
|
|
NM_020433.5(JPH2):c.205C>T (p.Arg69Trp)
|
|
|
NM_020433.5(JPH2):c.2066T>C (p.Ile689Thr)
|
|
|
NM_020433.5(JPH2):c.2070C>T (p.Leu690=)
|
|
|
NM_020433.5(JPH2):c.2070_2071del (p.Phe691fs)
|
|
|
NM_020433.5(JPH2):c.2073_2074inv (p.Val692Ile)
|
|
|
NM_020433.5(JPH2):c.2074G>A (p.Val692Ile)
|
|
|
NM_020433.5(JPH2):c.2077C>G (p.His693Asp)
|
|
|
NM_020433.5(JPH2):c.2078A>T (p.His693Leu)
|
|
|
NM_020433.5(JPH2):c.2083_2084del (p.Leu695fs)
|
|
|
NM_020433.5(JPH2):c.2085G>T (p.Leu695=)
|
|
|
NM_020433.5(JPH2):c.211G>T (p.Gly71Trp)
|
|
|
NM_020433.5(JPH2):c.216G>T (p.Leu72=)
|
rs1204338991
|
|
NM_020433.5(JPH2):c.222A>G (p.Ile74Met)
|
rs2145906046
|
|
NM_020433.5(JPH2):c.229A>G (p.Lys77Glu)
|
rs2072844538
|
|
NM_020433.5(JPH2):c.234G>T (p.Gly78=)
|
|
|
NM_020433.5(JPH2):c.235C>A (p.Arg79Ser)
|
|
|
NM_020433.5(JPH2):c.235C>T (p.Arg79Cys)
|
|
|
NM_020433.5(JPH2):c.236G>C (p.Arg79Pro)
|
|
|
NM_020433.5(JPH2):c.23T>C (p.Phe8Ser)
|
rs2072848592
|
|
NM_020433.5(JPH2):c.245A>G (p.Tyr82Cys)
|
rs774330827
|
|
NM_020433.5(JPH2):c.249G>A (p.Lys83=)
|
|
|
NM_020433.5(JPH2):c.253G>A (p.Glu85Lys)
|
|
|
NM_020433.5(JPH2):c.255G>A (p.Glu85=)
|
|
|
NM_020433.5(JPH2):c.266G>A (p.Gly89Asp)
|
|
|
NM_020433.5(JPH2):c.272A>G (p.Lys91Arg)
|
|
|
NM_020433.5(JPH2):c.282C>T (p.Tyr94=)
|
|
|
NM_020433.5(JPH2):c.283G>A (p.Gly95Arg)
|
|
|
NM_020433.5(JPH2):c.289C>T (p.Arg97Trp)
|
rs746943770
|
|
NM_020433.5(JPH2):c.291G>T (p.Arg97=)
|
|
|
NM_020433.5(JPH2):c.296G>A (p.Ser99Asn)
|
|
|
NM_020433.5(JPH2):c.296G>C (p.Ser99Thr)
|
|
|
NM_020433.5(JPH2):c.300A>C (p.Ser100=)
|
|
|
NM_020433.5(JPH2):c.301A>C (p.Ser101Arg)
|
rs1600482909
|
|
NM_020433.5(JPH2):c.303C>T (p.Ser101=)
|
|
|
NM_020433.5(JPH2):c.304A>T (p.Ser102Cys)
|
|
|
NM_020433.5(JPH2):c.306C>A (p.Ser102Arg)
|
|
|
NM_020433.5(JPH2):c.307G>A (p.Gly103Ser)
|
rs530754608
|
|
NM_020433.5(JPH2):c.307G>T (p.Gly103Cys)
|
|
|
NM_020433.5(JPH2):c.316T>C (p.Tyr106His)
|
|
|
NM_020433.5(JPH2):c.323G>A (p.Gly108Asp)
|
rs2145905825
|
|
NM_020433.5(JPH2):c.327C>T (p.Thr109=)
|
|
|
NM_020433.5(JPH2):c.338G>T (p.Gly113Val)
|
rs2145905804
|
|
NM_020433.5(JPH2):c.348C>T (p.Asp116=)
|
|
|
NM_020433.5(JPH2):c.349G>T (p.Gly117Cys)
|
rs1414551155
|
|
NM_020433.5(JPH2):c.349_351del (p.Gly117del)
|
rs1351653670
|
|
NM_020433.5(JPH2):c.350G>A (p.Gly117Asp)
|
rs1289294595
|
|
NM_020433.5(JPH2):c.35G>A (p.Gly12Glu)
|
|
|
NM_020433.5(JPH2):c.360C>T (p.Thr120=)
|
|
|
NM_020433.5(JPH2):c.361G>A (p.Glu121Lys)
|
rs1569226231
|
|
NM_020433.5(JPH2):c.363G>T (p.Glu121Asp)
|
|
|
NM_020433.5(JPH2):c.364dup (p.Thr122fs)
|
rs2145905725
|
|
NM_020433.5(JPH2):c.370G>A (p.Ala124Thr)
|
|
|
NM_020433.5(JPH2):c.373G>A (p.Asp125Asn)
|
|
|
NM_020433.5(JPH2):c.376G>A (p.Gly126Arg)
|
rs876657834
|
|
NM_020433.5(JPH2):c.379+12T>C
|
|
|
NM_020433.5(JPH2):c.379+13G>A
|
|
|
NM_020433.5(JPH2):c.379+8350T>A
|
|
|
NM_020433.5(JPH2):c.379+9A>G
|
|
|
NM_020433.5(JPH2):c.380-16C>T
|
|
|
NM_020433.5(JPH2):c.380-18C>T
|
rs559155501
|
|
NM_020433.5(JPH2):c.380-19G>T
|
|
|
NM_020433.5(JPH2):c.384G>A (p.Thr128=)
|
|
|
NM_020433.5(JPH2):c.409A>T (p.Met137Leu)
|
|
|
NM_020433.5(JPH2):c.416A>G (p.His139Arg)
|
|
|
NM_020433.5(JPH2):c.421T>A (p.Tyr141Asn)
|
|
|
NM_020433.5(JPH2):c.424G>A (p.Gly142Arg)
|
|
|
NM_020433.5(JPH2):c.424G>T (p.Gly142Ter)
|
rs765874503
|
|
NM_020433.5(JPH2):c.430C>T (p.Arg144Cys)
|
|
|
NM_020433.5(JPH2):c.431G>A (p.Arg144His)
|
rs1167554487
|
|
NM_020433.5(JPH2):c.435G>A (p.Gln145=)
|
rs2145879710
|
|
NM_020433.5(JPH2):c.436A>G (p.Ser146Gly)
|
rs1600858194
|
|
NM_020433.5(JPH2):c.438C>A (p.Ser146Arg)
|
rs762464432
|
|
NM_020433.5(JPH2):c.439G>A (p.Val147Met)
|
rs1012335909
|
|
NM_020433.5(JPH2):c.448G>C (p.Gly150Arg)
|
rs1231304653
|
|
NM_020433.5(JPH2):c.456C>T (p.Ala152=)
|
|
|
NM_020433.5(JPH2):c.464T>C (p.Val155Ala)
|
rs2072601326
|
|
NM_020433.5(JPH2):c.466C>T (p.Arg156Cys)
|
rs543732492
|
|
NM_020433.5(JPH2):c.468C>G (p.Arg156=)
|
rs553395930
|
|
NM_020433.5(JPH2):c.470C>T (p.Ser157Leu)
|
|
|
NM_020433.5(JPH2):c.471G>A (p.Ser157=)
|
|
|
NM_020433.5(JPH2):c.473C>T (p.Pro158Leu)
|
rs1375422053
|
|
NM_020433.5(JPH2):c.476T>A (p.Leu159Gln)
|
rs886038834
|
|
NM_020433.5(JPH2):c.478C>T (p.Arg160Cys)
|
|
|
NM_020433.5(JPH2):c.479G>A (p.Arg160His)
|
|
|
NM_020433.5(JPH2):c.482C>A (p.Thr161Lys)
|
rs587782951
|
|
NM_020433.5(JPH2):c.492G>A (p.Ser164=)
|
|
|
NM_020433.5(JPH2):c.494C>T (p.Ser165Phe)
|
rs387906898
|
|
NM_020433.5(JPH2):c.495C>T (p.Ser165=)
|
rs2072600997
|
|
NM_020433.5(JPH2):c.497T>G (p.Leu166Arg)
|
rs876657835
|
|
NM_020433.5(JPH2):c.498G>A (p.Leu166=)
|
|
|
NM_020433.5(JPH2):c.499C>A (p.Arg167Ser)
|
|
|
NM_020433.5(JPH2):c.499C>T (p.Arg167Cys)
|
|
|
NM_020433.5(JPH2):c.502A>C (p.Ser168Arg)
|
rs869025439
|
|
NM_020433.5(JPH2):c.502A>G (p.Ser168Gly)
|
rs869025439
|
|
NM_020433.5(JPH2):c.504C>T (p.Ser168=)
|
rs2072600851
|
|
NM_020433.5(JPH2):c.505G>A (p.Glu169Lys)
|
rs2072600840
|
|
NM_020433.5(JPH2):c.505G>C (p.Glu169Gln)
|
rs2072600840
|
|
NM_020433.5(JPH2):c.50G>T (p.Gly17Val)
|
|
|
NM_020433.5(JPH2):c.511_516dup (p.Ser171_Asn172dup)
|
rs864309612
|
|
NM_020433.5(JPH2):c.517G>C (p.Gly173Arg)
|
rs757693348
|
|
NM_020433.5(JPH2):c.517G>T (p.Gly173Cys)
|
|
|
NM_020433.5(JPH2):c.519C>A (p.Gly173=)
|
|
|
NM_020433.5(JPH2):c.521C>T (p.Thr174Met)
|
|
|
NM_020433.5(JPH2):c.522G>T (p.Thr174=)
|
|
|
NM_020433.5(JPH2):c.525G>A (p.Val175=)
|
|
|
NM_020433.5(JPH2):c.528C>T (p.Ala176=)
|
|
|
NM_020433.5(JPH2):c.52T>A (p.Trp18Arg)
|
|
|
NM_020433.5(JPH2):c.532G>A (p.Asp178Asn)
|
rs1600858066
|
|
NM_020433.5(JPH2):c.534C>T (p.Asp178=)
|
|
|
NM_020433.5(JPH2):c.539C>T (p.Pro180Leu)
|
rs2072600381
|
|
NM_020433.5(JPH2):c.540C>G (p.Pro180=)
|
|
|
NM_020433.5(JPH2):c.541del (p.Ala181fs)
|
rs1600857997
|
|
NM_020433.5(JPH2):c.546G>C (p.Ser182=)
|
rs1367650645
|
|
NM_020433.5(JPH2):c.547C>G (p.Pro183Ala)
|
|
|
NM_020433.5(JPH2):c.549G>A (p.Pro183=)
|
|
|
NM_020433.5(JPH2):c.549G>T (p.Pro183=)
|
rs1241788627
|
|
NM_020433.5(JPH2):c.558C>T (p.Asp186=)
|
|
|
NM_020433.5(JPH2):c.560G>A (p.Gly187Asp)
|
|
|
NM_020433.5(JPH2):c.560del (p.Gly187fs)
|
|
|
NM_020433.5(JPH2):c.564C>T (p.Pro188=)
|
|
|
NM_020433.5(JPH2):c.567G>A (p.Ala189=)
|
|
|
NM_020433.5(JPH2):c.57G>T (p.Glu19Asp)
|
|
|
NM_020433.5(JPH2):c.580G>T (p.Ala194Ser)
|
rs914203878
|
|
NM_020433.5(JPH2):c.584T>C (p.Ile195Thr)
|
rs1555858785
|
|
NM_020433.5(JPH2):c.586C>G (p.Pro196Ala)
|
|
|
NM_020433.5(JPH2):c.589C>T (p.Arg197Cys)
|
|
|
NM_020433.5(JPH2):c.58G>A (p.Gly20Arg)
|
rs988100071
|
|
NM_020433.5(JPH2):c.58G>C (p.Gly20Arg)
|
|
|
NM_020433.5(JPH2):c.58G>T (p.Gly20Trp)
|
|
|
NM_020433.5(JPH2):c.590G>A (p.Arg197His)
|
|
|
NM_020433.5(JPH2):c.590G>T (p.Arg197Leu)
|
rs1258920337
|
|
NM_020433.5(JPH2):c.591_593dup (p.Gly199_Phe200insGly)
|
|
|
NM_020433.5(JPH2):c.595G>A (p.Gly199Ser)
|
|
|
NM_020433.5(JPH2):c.596G>A (p.Gly199Asp)
|
rs2072599448
|
|
NM_020433.5(JPH2):c.598T>G (p.Phe200Val)
|
|
|
NM_020433.5(JPH2):c.599T>C (p.Phe200Ser)
|
|
|
NM_020433.5(JPH2):c.5G>A (p.Ser2Asn)
|
|
|
NM_020433.5(JPH2):c.601_602delinsTT (p.Ala201Leu)
|
|
|
NM_020433.5(JPH2):c.607A>G (p.Ser203Gly)
|
rs2145879448
|
|
NM_020433.5(JPH2):c.611T>A (p.Leu204His)
|
|
|
NM_020433.5(JPH2):c.617C>T (p.Ala206Val)
|
|
|
NM_020433.5(JPH2):c.618C>A (p.Ala206=)
|
|
|
NM_020433.5(JPH2):c.622G>A (p.Ala208Thr)
|
|
|
NM_020433.5(JPH2):c.624C>G (p.Ala208=)
|
rs398124358
|
|
NM_020433.5(JPH2):c.624C>T (p.Ala208=)
|
rs398124358
|
|
NM_020433.5(JPH2):c.627G>A (p.Glu209=)
|
|
|
NM_020433.5(JPH2):c.629C>A (p.Ala210Glu)
|
|
|
NM_020433.5(JPH2):c.62G>A (p.Gly21Glu)
|
rs2072847837
|
|
NM_020433.5(JPH2):c.630G>A (p.Ala210=)
|
|
|
NM_020433.5(JPH2):c.630G>T (p.Ala210=)
|
|
|
NM_020433.5(JPH2):c.632C>T (p.Ala211Val)
|
|
|
NM_020433.5(JPH2):c.643C>G (p.Pro215Ala)
|
|
|
NM_020433.5(JPH2):c.646A>C (p.Lys216Gln)
|
|
|
NM_020433.5(JPH2):c.649G>A (p.Gly217Ser)
|
rs1346458604
|
|
NM_020433.5(JPH2):c.649G>T (p.Gly217Cys)
|
rs1346458604
|
|
NM_020433.5(JPH2):c.650_651delinsCT (p.Gly217Ala)
|
rs2145879374
|
|
NM_020433.5(JPH2):c.652G>A (p.Gly218Ser)
|
|
|
NM_020433.5(JPH2):c.655G>A (p.Gly219Ser)
|
|
|
NM_020433.5(JPH2):c.658C>G (p.Leu220Val)
|
|
|
NM_020433.5(JPH2):c.658C>T (p.Leu220Phe)
|
|
|
NM_020433.5(JPH2):c.673G>A (p.Ala225Thr)
|
rs1456694324
|
|
NM_020433.5(JPH2):c.676C>A (p.Leu226Met)
|
|
|
NM_020433.5(JPH2):c.67G>A (p.Ala23Thr)
|
|
|
NM_020433.5(JPH2):c.680T>G (p.Leu227Arg)
|
|
|
NM_020433.5(JPH2):c.683G>A (p.Gly228Asp)
|
|
|
NM_020433.5(JPH2):c.686A>G (p.Lys229Arg)
|
|
|
NM_020433.5(JPH2):c.688C>T (p.Leu230=)
|
|
|
NM_020433.5(JPH2):c.68C>T (p.Ala23Val)
|
|
|
NM_020433.5(JPH2):c.694C>T (p.Arg232Cys)
|
rs1002693181
|
|
NM_020433.5(JPH2):c.700G>A (p.Glu234Lys)
|
rs13041770
|
|
NM_020433.5(JPH2):c.705G>A (p.Ser235=)
|
|
|
NM_020433.5(JPH2):c.711G>C (p.Thr237=)
|
|
|
NM_020433.5(JPH2):c.713C>T (p.Ser238Phe)
|
|
|
NM_020433.5(JPH2):c.715G>C (p.Val239Leu)
|
|
|
NM_020433.5(JPH2):c.717G>A (p.Val239=)
|
rs1555858753
|
|
NM_020433.5(JPH2):c.718G>T (p.Gly240Cys)
|
rs2145879251
|
|
NM_020433.5(JPH2):c.720T>C (p.Gly240=)
|
|
|
NM_020433.5(JPH2):c.732C>T (p.Ser244=)
|
|
|
NM_020433.5(JPH2):c.736G>A (p.Val246Ile)
|
|
|
NM_020433.5(JPH2):c.738C>G (p.Val246=)
|
|
|
NM_020433.5(JPH2):c.739A>G (p.Ser247Gly)
|
|
|
NM_020433.5(JPH2):c.747T>C (p.Leu249=)
|
|
|
NM_020433.5(JPH2):c.752G>A (p.Ser251Asn)
|
|
|
NM_020433.5(JPH2):c.753C>G (p.Ser251Arg)
|
|
|
NM_020433.5(JPH2):c.754G>A (p.Asp252Asn)
|
rs777934295
|
|
NM_020433.5(JPH2):c.756C>A (p.Asp252Glu)
|
rs2145879184
|
|
NM_020433.5(JPH2):c.758T>A (p.Leu253His)
|
|
|
NM_020433.5(JPH2):c.759C>T (p.Leu253=)
|
|
|
NM_020433.5(JPH2):c.765G>T (p.Ser255=)
|
|
|
NM_020433.5(JPH2):c.774C>T (p.Ser258=)
|
|
|
NM_020433.5(JPH2):c.775G>A (p.Asp259Asn)
|
|
|
NM_020433.5(JPH2):c.789C>T (p.Thr263=)
|
rs1341184691
|
|
NM_020433.5(JPH2):c.791C>G (p.Ala264Gly)
|
|
|
NM_020433.5(JPH2):c.793A>G (p.Ser265Gly)
|
|
|
NM_020433.5(JPH2):c.795C>G (p.Ser265Arg)
|
rs1555858729
|
|
NM_020433.5(JPH2):c.800G>A (p.Gly267Glu)
|
|
|
NM_020433.5(JPH2):c.810_830del (p.Glu271_Ala277del)
|
rs1308789253
|
|
NM_020433.5(JPH2):c.817G>A (p.Ala273Thr)
|
|
|
NM_020433.5(JPH2):c.817G>T (p.Ala273Ser)
|
|
|
NM_020433.5(JPH2):c.818C>T (p.Ala273Val)
|
|
|
NM_020433.5(JPH2):c.823G>A (p.Glu275Lys)
|
|
|
NM_020433.5(JPH2):c.823G>C (p.Glu275Gln)
|
|
|
NM_020433.5(JPH2):c.831A>G (p.Ala277=)
|
|
|
NM_020433.5(JPH2):c.843C>A (p.Ala281=)
|
|
|
NM_020433.5(JPH2):c.846T>C (p.Asp282=)
|
rs976324787
|
|
NM_020433.5(JPH2):c.849C>T (p.Ile283=)
|
|
|
NM_020433.5(JPH2):c.852C>A (p.Asp284Glu)
|
rs747209399
|
|
NM_020433.5(JPH2):c.852C>T (p.Asp284=)
|
|
|
NM_020433.5(JPH2):c.862A>G (p.Thr288Ala)
|
|
|
NM_020433.5(JPH2):c.869C>G (p.Thr290Ser)
|
rs757257639
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NM_020433.5(JPH2):c.869C>T (p.Thr290Ile)
|
rs757257639
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NM_020433.5(JPH2):c.874A>C (p.Met292Leu)
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NM_020433.5(JPH2):c.875T>C (p.Met292Thr)
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rs1380514288
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NM_020433.5(JPH2):c.876G>A (p.Met292Ile)
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NM_020433.5(JPH2):c.877G>T (p.Gly293Cys)
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rs1359821067
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NM_020433.5(JPH2):c.880G>A (p.Glu294Lys)
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NM_020433.5(JPH2):c.887A>C (p.Lys296Thr)
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rs1600857521
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NM_020433.5(JPH2):c.891C>T (p.Asn297=)
|
rs796364747
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NM_020433.5(JPH2):c.897A>G (p.Lys299=)
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NM_020433.5(JPH2):c.899G>A (p.Arg300His)
|
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NM_020433.5(JPH2):c.899G>C (p.Arg300Pro)
|
rs2072594403
|
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NM_020433.5(JPH2):c.902C>T (p.Ser301Leu)
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NM_020433.5(JPH2):c.903G>A (p.Ser301=)
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NM_020433.5(JPH2):c.910G>T (p.Gly304Cys)
|
rs2072594160
|
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NM_020433.5(JPH2):c.915G>C (p.Val305=)
|
|
|
NM_020433.5(JPH2):c.916A>G (p.Ser306Gly)
|
rs2072594051
|
|
NM_020433.5(JPH2):c.919G>A (p.Glu307Lys)
|
rs866434937
|
|
NM_020433.5(JPH2):c.92G>A (p.Gly31Asp)
|
rs1569226648
|
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NM_020433.5(JPH2):c.930T>C (p.Ser310=)
|
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NM_020433.5(JPH2):c.931G>A (p.Gly311Ser)
|
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NM_020433.5(JPH2):c.933C>T (p.Gly311=)
|
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NM_020433.5(JPH2):c.942C>T (p.Tyr314=)
|
rs1555858688
|
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NM_020433.5(JPH2):c.944A>G (p.Glu315Gly)
|
rs1339779323
|
|
NM_020433.5(JPH2):c.946G>A (p.Gly316Ser)
|
rs2145878846
|
|
NM_020433.5(JPH2):c.949G>A (p.Glu317Lys)
|
rs1054295023
|
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NM_020433.5(JPH2):c.958G>A (p.Asp320Asn)
|
rs2072593559
|
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NM_020433.5(JPH2):c.963C>T (p.Asn321=)
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NM_020433.5(JPH2):c.967C>A (p.Arg323Ser)
|
|
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NM_020433.5(JPH2):c.972C>T (p.His324=)
|
rs757316297
|
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NM_020433.5(JPH2):c.975_976delinsAC (p.Tyr326His)
|
|
|
NM_020433.5(JPH2):c.985A>G (p.Thr329Ala)
|
rs1555858673
|
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NM_020433.5(JPH2):c.986C>A (p.Thr329Asn)
|
rs1555858670
|
|
NM_020433.5(JPH2):c.98A>G (p.Lys33Arg)
|
rs573848816
|
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NM_020433.5(JPH2):c.999C>T (p.Asp333=)
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|
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NM_020433.5(JPH2):c.9G>A (p.Gly3=)
|
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