ClinVar Miner

List of variants in gene JPH2

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Gene type:
ClinVar version:
Total variants: 826
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HGVS dbSNP gnomAD frequency
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
NM_020433.5(JPH2):c.869C>T (p.Thr290Ile) rs757257639
NM_020433.5(JPH2):c.874A>C (p.Met292Leu)
NM_020433.5(JPH2):c.875T>C (p.Met292Thr) rs1380514288
NM_020433.5(JPH2):c.876G>A (p.Met292Ile)
NM_020433.5(JPH2):c.877G>T (p.Gly293Cys) rs1359821067
NM_020433.5(JPH2):c.880G>A (p.Glu294Lys)
NM_020433.5(JPH2):c.887A>C (p.Lys296Thr) rs1600857521
NM_020433.5(JPH2):c.891C>T (p.Asn297=) rs796364747
NM_020433.5(JPH2):c.897A>G (p.Lys299=)
NM_020433.5(JPH2):c.899G>A (p.Arg300His)
NM_020433.5(JPH2):c.899G>C (p.Arg300Pro) rs2072594403
NM_020433.5(JPH2):c.902C>T (p.Ser301Leu)
NM_020433.5(JPH2):c.903G>A (p.Ser301=)
NM_020433.5(JPH2):c.910G>T (p.Gly304Cys) rs2072594160
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
NM_020433.5(JPH2):c.930T>C (p.Ser310=)
NM_020433.5(JPH2):c.931G>A (p.Gly311Ser)
NM_020433.5(JPH2):c.933C>T (p.Gly311=)
NM_020433.5(JPH2):c.942C>T (p.Tyr314=) rs1555858688
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
NM_020433.5(JPH2):c.958G>A (p.Asp320Asn) rs2072593559
NM_020433.5(JPH2):c.963C>T (p.Asn321=)
NM_020433.5(JPH2):c.967C>A (p.Arg323Ser)
NM_020433.5(JPH2):c.972C>T (p.His324=) rs757316297
NM_020433.5(JPH2):c.975_976delinsAC (p.Tyr326His)
NM_020433.5(JPH2):c.985A>G (p.Thr329Ala) rs1555858673
NM_020433.5(JPH2):c.986C>A (p.Thr329Asn) rs1555858670
NM_020433.5(JPH2):c.98A>G (p.Lys33Arg) rs573848816
NM_020433.5(JPH2):c.999C>T (p.Asp333=)
NM_020433.5(JPH2):c.9G>A (p.Gly3=)

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