ClinVar Miner

List of variants in gene JPH2 reported as uncertain significance

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 593
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_020433.5(JPH2):c.1513G>A (p.Gly505Ser) rs140740776 0.01021
NM_020433.5(JPH2):c.661T>C (p.Phe221Leu) rs558770240 0.00596
NM_020433.5(JPH2):c.637C>T (p.Arg213Trp) rs767328866 0.00145
NM_020433.5(JPH2):c.565G>A (p.Ala189Thr) rs730880254 0.00099
NM_020433.5(JPH2):c.1424G>A (p.Arg475His) rs765754956 0.00079
NM_020433.5(JPH2):c.128A>G (p.Asn43Ser) rs138992849 0.00068
NM_020433.5(JPH2):c.572C>G (p.Pro191Arg) rs554853074 0.00048
NM_020433.5(JPH2):c.1380G>A (p.Ala460=) rs531877510 0.00044
NM_020433.5(JPH2):c.1204G>A (p.Glu402Lys) rs147407445 0.00038
NM_020433.5(JPH2):c.692G>A (p.Arg231Gln) rs761591158 0.00038
NM_020433.5(JPH2):c.1015G>A (p.Gly339Ser) rs368290474 0.00031
NM_020433.5(JPH2):c.*15A>T rs561604738 0.00028
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.1357C>T (p.Pro453Ser) rs556886570 0.00013
NM_020433.5(JPH2):c.1896G>C (p.Glu632Asp) rs367563723 0.00010
NM_020433.5(JPH2):c.1552G>A (p.Gly518Ser) rs926337524 0.00009
NM_020433.5(JPH2):c.1732C>A (p.Pro578Thr) rs746846724 0.00009
NM_020433.5(JPH2):c.829G>T (p.Ala277Ser) rs368516996 0.00008
NM_020433.5(JPH2):c.1565G>A (p.Arg522Gln) rs980412081 0.00007
NM_020433.5(JPH2):c.1826T>C (p.Leu609Pro) rs556546220 0.00007
NM_020433.5(JPH2):c.1375G>A (p.Ala459Thr) rs567872241 0.00006
NM_020433.5(JPH2):c.1420G>A (p.Glu474Lys) rs1033476644 0.00005
NM_020433.5(JPH2):c.1433C>T (p.Pro478Leu) rs970525996 0.00005
NM_020433.5(JPH2):c.1486C>T (p.Arg496Trp) rs863224775 0.00005
NM_020433.5(JPH2):c.1658C>T (p.Ala553Val) rs200422043 0.00005
NM_020433.5(JPH2):c.1894G>A (p.Glu632Lys) rs200149713 0.00005
NM_020433.5(JPH2):c.1958A>C (p.Lys653Thr) rs1015099481 0.00005
NM_020433.5(JPH2):c.349G>A (p.Gly117Ser) rs1414551155 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.1787C>T (p.Pro596Leu) rs1376826403 0.00004
NM_020433.5(JPH2):c.299C>T (p.Ser100Leu) rs145401873 0.00004
NM_020433.5(JPH2):c.57G>T (p.Glu19Asp) rs143695964 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.1180G>A (p.Ala394Thr) rs372515066 0.00003
NM_020433.5(JPH2):c.1246C>T (p.Arg416Cys) rs794729025 0.00003
NM_020433.5(JPH2):c.1282C>T (p.Gln428Ter) rs199896820 0.00003
NM_020433.5(JPH2):c.1363C>T (p.Arg455Trp) rs767514641 0.00003
NM_020433.5(JPH2):c.1441G>A (p.Glu481Lys) rs762695696 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.1598G>A (p.Arg533His) rs751409321 0.00003
NM_020433.5(JPH2):c.1624C>T (p.Arg542Cys) rs534764809 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.1937C>G (p.Thr646Ser) rs1600828763 0.00003
NM_020433.5(JPH2):c.1948G>A (p.Ala650Thr) rs111319388 0.00003
NM_020433.5(JPH2):c.2062G>A (p.Ala688Thr) rs540933939 0.00003
NM_020433.5(JPH2):c.2074G>A (p.Val692Ile) rs917413698 0.00003
NM_020433.5(JPH2):c.370G>A (p.Ala124Thr) rs150070513 0.00003
NM_020433.5(JPH2):c.379+8350T>A rs754053583 0.00003
NM_020433.5(JPH2):c.77A>G (p.His26Arg) rs141664528 0.00003
NM_020433.5(JPH2):c.838G>A (p.Glu280Lys) rs748282723 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.1025G>A (p.Arg342His) rs760723899 0.00002
NM_020433.5(JPH2):c.1162G>A (p.Ala388Thr) rs200356989 0.00002
NM_020433.5(JPH2):c.1240A>G (p.Ile414Val) rs537544755 0.00002
NM_020433.5(JPH2):c.1292C>T (p.Pro431Leu) rs1272859605 0.00002
NM_020433.5(JPH2):c.1379C>T (p.Ala460Val) rs1158370131 0.00002
NM_020433.5(JPH2):c.1550G>A (p.Ser517Asn) rs1372245047 0.00002
NM_020433.5(JPH2):c.1564C>T (p.Arg522Trp) rs770850932 0.00002
NM_020433.5(JPH2):c.1603C>A (p.Pro535Thr) rs908217758 0.00002
NM_020433.5(JPH2):c.1652C>T (p.Pro551Leu) rs760091886 0.00002
NM_020433.5(JPH2):c.1736C>T (p.Pro579Leu) rs953353202 0.00002
NM_020433.5(JPH2):c.1756G>A (p.Glu586Lys) rs1244082467 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.1951A>G (p.Lys651Glu) rs778410296 0.00002
NM_020433.5(JPH2):c.541G>A (p.Ala181Thr) rs1304705938 0.00002
NM_020433.5(JPH2):c.547C>G (p.Pro183Ala) rs938498462 0.00002
NM_020433.5(JPH2):c.641C>A (p.Ala214Glu) rs952147058 0.00002
NM_020433.5(JPH2):c.-4T>A rs761140357 0.00001
NM_020433.5(JPH2):c.1043A>G (p.Lys348Arg) rs774311922 0.00001
NM_020433.5(JPH2):c.1057C>T (p.Arg353Cys) rs749245252 0.00001
NM_020433.5(JPH2):c.1062G>C (p.Met354Ile) rs546800323 0.00001
NM_020433.5(JPH2):c.1079A>T (p.Asn360Ile) rs1374929306 0.00001
NM_020433.5(JPH2):c.107G>A (p.Gly36Asp) rs761193216 0.00001
NM_020433.5(JPH2):c.1081A>G (p.Lys361Glu) rs1458411742 0.00001
NM_020433.5(JPH2):c.109G>A (p.Glu37Lys) rs1427861059 0.00001
NM_020433.5(JPH2):c.1132G>A (p.Ala378Thr) rs770866282 0.00001
NM_020433.5(JPH2):c.1139C>T (p.Ala380Val) rs1216466447 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.1169+5G>A rs766770510 0.00001
NM_020433.5(JPH2):c.1175G>A (p.Ser392Asn) rs148621426 0.00001
NM_020433.5(JPH2):c.1238A>G (p.Asn413Ser) rs778937072 0.00001
NM_020433.5(JPH2):c.1247G>T (p.Arg416Leu) rs190802013 0.00001
NM_020433.5(JPH2):c.1267G>T (p.Ala423Ser) rs753716480 0.00001
NM_020433.5(JPH2):c.1306C>T (p.Arg436Cys) rs1326977511 0.00001
NM_020433.5(JPH2):c.1309C>T (p.Arg437Trp) rs1398034376 0.00001
NM_020433.5(JPH2):c.1321G>A (p.Glu441Lys) rs1312945217 0.00001
NM_020433.5(JPH2):c.1324A>G (p.Ile442Val) rs1415885472 0.00001
NM_020433.5(JPH2):c.1364G>A (p.Arg455Gln) rs1216784399 0.00001
NM_020433.5(JPH2):c.1367G>A (p.Gly456Asp) rs1472501616 0.00001
NM_020433.5(JPH2):c.1394C>T (p.Pro465Leu) rs908189174 0.00001
NM_020433.5(JPH2):c.1396C>T (p.Pro466Ser) rs1168972813 0.00001
NM_020433.5(JPH2):c.1400G>A (p.Arg467His) rs1465565186 0.00001
NM_020433.5(JPH2):c.1409C>T (p.Pro470Leu) rs1312283242 0.00001
NM_020433.5(JPH2):c.1417C>T (p.His473Tyr) rs1308500935 0.00001
NM_020433.5(JPH2):c.1430C>G (p.Thr477Ser) rs1442070249 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.1465G>A (p.Gly489Arg) rs1446439010 0.00001
NM_020433.5(JPH2):c.1487G>A (p.Arg496Gln) rs1404072085 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.1523G>A (p.Ser508Asn) rs2072189970 0.00001
NM_020433.5(JPH2):c.1529G>A (p.Gly510Asp) rs1182932862 0.00001
NM_020433.5(JPH2):c.1540G>A (p.Gly514Ser) rs869025442 0.00001
NM_020433.5(JPH2):c.1568C>T (p.Ser523Leu) rs1378737709 0.00001
NM_020433.5(JPH2):c.1573A>G (p.Thr525Ala) rs1158318107 0.00001
NM_020433.5(JPH2):c.1589C>T (p.Ala530Val) rs754961884 0.00001
NM_020433.5(JPH2):c.1640C>T (p.Ala547Val) rs772283505 0.00001
NM_020433.5(JPH2):c.164C>T (p.Pro55Leu) rs1060499996 0.00001
NM_020433.5(JPH2):c.1666C>G (p.Arg556Gly) rs1339089624 0.00001
NM_020433.5(JPH2):c.1674G>A (p.Pro558=) rs779915700 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.1727C>T (p.Pro576Leu) rs1381167166 0.00001
NM_020433.5(JPH2):c.1729G>A (p.Glu577Lys) rs181096982 0.00001
NM_020433.5(JPH2):c.1753C>T (p.Pro585Ser) rs745760392 0.00001
NM_020433.5(JPH2):c.1754C>T (p.Pro585Leu) rs778570166 0.00001
NM_020433.5(JPH2):c.1781C>T (p.Ser594Phe) rs1036911295 0.00001
NM_020433.5(JPH2):c.1795C>G (p.Pro599Ala) rs745811880 0.00001
NM_020433.5(JPH2):c.1804G>A (p.Ala602Thr) rs1299492079 0.00001
NM_020433.5(JPH2):c.1813C>G (p.Gln605Glu) rs1269508635 0.00001
NM_020433.5(JPH2):c.1817C>T (p.Ala606Val) rs1198839461 0.00001
NM_020433.5(JPH2):c.1837G>A (p.Glu613Lys) rs1354419576 0.00001
NM_020433.5(JPH2):c.1838A>G (p.Glu613Gly) rs753914193 0.00001
NM_020433.5(JPH2):c.1844C>T (p.Ala615Val) rs1397533355 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.1855C>G (p.Pro619Ala) rs749196483 0.00001
NM_020433.5(JPH2):c.1861A>G (p.Lys621Glu) rs780958669 0.00001
NM_020433.5(JPH2):c.1862A>G (p.Lys621Arg) rs2072184846 0.00001
NM_020433.5(JPH2):c.1879A>G (p.Ile627Val) rs1259877706 0.00001
NM_020433.5(JPH2):c.1901G>A (p.Arg634Lys) rs759806993 0.00001
NM_020433.5(JPH2):c.1903G>C (p.Ala635Pro) rs1409841420 0.00001
NM_020433.5(JPH2):c.1963C>T (p.Arg655Trp) rs1247189279 0.00001
NM_020433.5(JPH2):c.1982C>A (p.Ala661Glu) rs1026714361 0.00001
NM_020433.5(JPH2):c.1984G>T (p.Ala662Ser) rs1355406064 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.2011G>A (p.Val671Ile) rs1428142855 0.00001
NM_020433.5(JPH2):c.2015C>T (p.Pro672Leu) rs1304425572 0.00001
NM_020433.5(JPH2):c.2018A>G (p.Asn673Ser) rs781780252 0.00001
NM_020433.5(JPH2):c.2021C>T (p.Thr674Ile) rs1405034470 0.00001
NM_020433.5(JPH2):c.202A>C (p.Lys68Gln) rs758036911 0.00001
NM_020433.5(JPH2):c.2035A>G (p.Met679Val) rs747129040 0.00001
NM_020433.5(JPH2):c.2056G>A (p.Gly686Ser) rs778774256 0.00001
NM_020433.5(JPH2):c.2066T>C (p.Ile689Thr) rs2515716926 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.235C>T (p.Arg79Cys) rs753220253 0.00001
NM_020433.5(JPH2):c.236G>C (p.Arg79Pro) rs767968907 0.00001
NM_020433.5(JPH2):c.23T>C (p.Phe8Ser) rs2072848592 0.00001
NM_020433.5(JPH2):c.266G>A (p.Gly89Asp) rs1017359711 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.283G>A (p.Gly95Arg) rs1228478375 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.316T>C (p.Tyr106His) rs1165983913 0.00001
NM_020433.5(JPH2):c.350G>A (p.Gly117Asp) rs1289294595 0.00001
NM_020433.5(JPH2):c.363G>T (p.Glu121Asp) rs753073876 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.424G>A (p.Gly142Arg) rs765874503 0.00001
NM_020433.5(JPH2):c.443C>T (p.Pro148Leu) rs772582964 0.00001
NM_020433.5(JPH2):c.457G>A (p.Val153Met) rs747722861 0.00001
NM_020433.5(JPH2):c.458T>C (p.Val153Ala) rs776045429 0.00001
NM_020433.5(JPH2):c.466C>T (p.Arg156Cys) rs543732492 0.00001
NM_020433.5(JPH2):c.499C>A (p.Arg167Ser) rs1394260721 0.00001
NM_020433.5(JPH2):c.502A>G (p.Ser168Gly) rs869025439 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.559G>A (p.Gly187Ser) rs869025440 0.00001
NM_020433.5(JPH2):c.575C>T (p.Ser192Leu) rs1481973487 0.00001
NM_020433.5(JPH2):c.58G>C (p.Gly20Arg) rs988100071 0.00001
NM_020433.5(JPH2):c.590G>A (p.Arg197His) rs1258920337 0.00001
NM_020433.5(JPH2):c.595G>A (p.Gly199Ser) rs1368986559 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.622G>A (p.Ala208Thr) rs1297871218 0.00001
NM_020433.5(JPH2):c.629C>A (p.Ala210Glu) rs1377793632 0.00001
NM_020433.5(JPH2):c.643C>G (p.Pro215Ala) rs1454632859 0.00001
NM_020433.5(JPH2):c.646A>C (p.Lys216Gln) rs1485998965 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.723C>G (p.Ser241Arg) rs587782952 0.00001
NM_020433.5(JPH2):c.753C>G (p.Ser251Arg) rs749739988 0.00001
NM_020433.5(JPH2):c.758T>A (p.Leu253His) rs2072597253 0.00001
NM_020433.5(JPH2):c.769G>A (p.Ala257Thr) rs866617430 0.00001
NM_020433.5(JPH2):c.775G>A (p.Asp259Asn) rs1469514183 0.00001
NM_020433.5(JPH2):c.782C>T (p.Ala261Val) rs2072597044 0.00001
NM_020433.5(JPH2):c.799G>A (p.Gly267Arg) rs1335205916 0.00001
NM_020433.5(JPH2):c.833C>G (p.Pro278Arg) rs1226206290 0.00001
NM_020433.5(JPH2):c.854C>A (p.Ala285Asp) rs1252094258 0.00001
NM_020433.5(JPH2):c.874A>C (p.Met292Leu) rs753442824 0.00001
NM_020433.5(JPH2):c.876G>A (p.Met292Ile) rs983963093 0.00001
NM_020433.5(JPH2):c.880G>A (p.Glu294Lys) rs763677478 0.00001
NM_020433.5(JPH2):c.931G>A (p.Gly311Ser) rs563382652 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.98A>G (p.Lys33Arg) rs573848816 0.00001
NC_000020.10:g.(?_42743436)_(42747283_?)dup
NC_000020.10:g.(?_42743436)_(42815345_?)del
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
NC_000020.11:g.44160273_44160294delinsG rs1555858801
NM_020433.5(JPH2):c.1004A>G (p.His335Arg) rs765561526
NM_020433.5(JPH2):c.1013A>C (p.Glu338Ala)
NM_020433.5(JPH2):c.1013A>G (p.Glu338Gly) rs2515744303
NM_020433.5(JPH2):c.1016G>A (p.Gly339Asp) rs2515744296
NM_020433.5(JPH2):c.101G>A (p.Gly34Asp) rs2515764734
NM_020433.5(JPH2):c.1022A>G (p.Tyr341Cys) rs2072592330
NM_020433.5(JPH2):c.1024C>T (p.Arg342Cys) rs1464750590
NM_020433.5(JPH2):c.1039G>A (p.Val347Ile) rs2515744263
NM_020433.5(JPH2):c.1049C>A (p.Thr350Asn) rs770813064
NM_020433.5(JPH2):c.104A>G (p.Gln35Arg)
NM_020433.5(JPH2):c.1054C>T (p.Arg352Cys) rs2515744232
NM_020433.5(JPH2):c.1055G>A (p.Arg352His) rs1273646828
NM_020433.5(JPH2):c.1066C>T (p.Gln356Ter) rs2072591553
NM_020433.5(JPH2):c.1068G>T (p.Gln356His) rs2515744211
NM_020433.5(JPH2):c.1073A>G (p.Lys358Arg) rs2515744204
NM_020433.5(JPH2):c.1081A>C (p.Lys361Gln) rs1458411742
NM_020433.5(JPH2):c.1083G>T (p.Lys361Asn) rs971528622
NM_020433.5(JPH2):c.1087C>T (p.Arg363Cys) rs751173523
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>C (p.Glu37Gln) rs1427861059
NM_020433.5(JPH2):c.1103A>G (p.His368Arg) rs2072480861
NM_020433.5(JPH2):c.1106G>C (p.Ser369Thr) rs1600857310
NM_020433.5(JPH2):c.1109T>C (p.Val370Ala) rs2515744116
NM_020433.5(JPH2):c.1111G>A (p.Glu371Lys)
NM_020433.5(JPH2):c.1115G>A (p.Gly372Asp) rs2515744102
NM_020433.5(JPH2):c.1123C>T (p.Arg375Cys) rs1199319789
NM_020433.5(JPH2):c.1126G>A (p.Ala376Thr)
NM_020433.5(JPH2):c.1135A>G (p.Ile379Val)
NM_020433.5(JPH2):c.1136T>C (p.Ile379Thr)
NM_020433.5(JPH2):c.1139C>A (p.Ala380Glu) rs1216466447
NM_020433.5(JPH2):c.1142G>A (p.Arg381His) rs746668155
NM_020433.5(JPH2):c.1148_1156del (p.Lys383_Glu385del) rs2072589790
NM_020433.5(JPH2):c.1170-3T>C rs2515719838
NM_020433.5(JPH2):c.1171A>G (p.Thr391Ala) rs2515719836
NM_020433.5(JPH2):c.1180_1181del (p.Ala394fs) rs2515719817
NM_020433.5(JPH2):c.1181C>G (p.Ala394Gly) rs764133875
NM_020433.5(JPH2):c.1207C>G (p.Gln403Glu) rs955381296
NM_020433.5(JPH2):c.1208A>G (p.Gln403Arg)
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.121T>C (p.Ser41Pro)
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) rs2072210824
NM_020433.5(JPH2):c.1235C>G (p.Ser412Cys) rs1004964815
NM_020433.5(JPH2):c.1243G>T (p.Ala415Ser) rs1214632905
NM_020433.5(JPH2):c.1247G>A (p.Arg416His) rs190802013
NM_020433.5(JPH2):c.1249A>G (p.Thr417Ala) rs2515719714
NM_020433.5(JPH2):c.1255G>T (p.Ala419Ser)
NM_020433.5(JPH2):c.1263G>T (p.Glu421Asp) rs2515719703
NM_020433.5(JPH2):c.1275C>A (p.Asp425Glu) rs2145840509
NM_020433.5(JPH2):c.1282C>A (p.Gln428Lys)
NM_020433.5(JPH2):c.1288+4G>A rs1012633542
NM_020433.5(JPH2):c.1288+6del rs2515719679
NM_020433.5(JPH2):c.1289G>A (p.Gly430Asp)
NM_020433.5(JPH2):c.1296del (p.Glu432fs) rs2515718635
NM_020433.5(JPH2):c.1322A>G (p.Glu441Gly)
NM_020433.5(JPH2):c.1322A>T (p.Glu441Val) rs2515718602
NM_020433.5(JPH2):c.1328T>C (p.Leu443Pro) rs1361995693
NM_020433.5(JPH2):c.1332G>T (p.Glu444Asp) rs2072192576
NM_020433.5(JPH2):c.1342A>G (p.Ser448Gly) rs1239253550
NM_020433.5(JPH2):c.1355C>T (p.Pro452Leu) rs2515718570
NM_020433.5(JPH2):c.1359_1388del (p.Asp454_Pro463del) rs2145838837
NM_020433.5(JPH2):c.1359dup (p.Asp454fs)
NM_020433.5(JPH2):c.1360G>A (p.Asp454Asn) rs899891263
NM_020433.5(JPH2):c.1361A>C (p.Asp454Ala) rs2072192146
NM_020433.5(JPH2):c.1375G>T (p.Ala459Ser) rs567872241
NM_020433.5(JPH2):c.1376C>A (p.Ala459Glu) rs2515718525
NM_020433.5(JPH2):c.1382G>A (p.Gly461Asp) rs2145838846
NM_020433.5(JPH2):c.1393C>T (p.Pro465Ser) rs2515718501
NM_020433.5(JPH2):c.1399C>G (p.Arg467Gly) rs984065543
NM_020433.5(JPH2):c.13C>T (p.Arg5Cys)
NM_020433.5(JPH2):c.1402G>A (p.Glu468Lys) rs952605949
NM_020433.5(JPH2):c.1404G>C (p.Glu468Asp) rs1161692727
NM_020433.5(JPH2):c.140A>C (p.Glu47Ala) rs2072846446
NM_020433.5(JPH2):c.1414_1415delinsGG (p.Leu472Gly) rs2145838792
NM_020433.5(JPH2):c.1423C>T (p.Arg475Cys) rs1182860707
NM_020433.5(JPH2):c.1426G>T (p.Glu476Ter)
NM_020433.5(JPH2):c.1430C>A (p.Thr477Asn) rs1442070249
NM_020433.5(JPH2):c.1435C>T (p.Arg479Trp)
NM_020433.5(JPH2):c.1438C>T (p.Pro480Ser) rs2515718419
NM_020433.5(JPH2):c.1442A>C (p.Glu481Ala) rs2515718418
NM_020433.5(JPH2):c.1445G>A (p.Gly482Asp) rs2515718413
NM_020433.5(JPH2):c.1454C>T (p.Pro485Leu) rs1085307656
NM_020433.5(JPH2):c.1459C>T (p.Pro487Ser) rs919085890
NM_020433.5(JPH2):c.1460C>T (p.Pro487Leu) rs1413584228
NM_020433.5(JPH2):c.1464C>A (p.Ala488=) rs1060499997
NM_020433.5(JPH2):c.1469C>T (p.Thr490Met)
NM_020433.5(JPH2):c.1472C>A (p.Pro491His) rs2515718355
NM_020433.5(JPH2):c.1477C>T (p.Gln493Ter) rs2072190444
NM_020433.5(JPH2):c.1492A>G (p.Arg498Gly)
NM_020433.5(JPH2):c.14G>A (p.Arg5His)
NM_020433.5(JPH2):c.1507A>G (p.Lys503Glu)
NM_020433.5(JPH2):c.1513G>C (p.Gly505Arg) rs140740776
NM_020433.5(JPH2):c.1516C>G (p.Leu506Val) rs772755219
NM_020433.5(JPH2):c.1551C>A (p.Ser517Arg) rs1295638660
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.1580C>G (p.Ser527Cys)
NM_020433.5(JPH2):c.1580C>T (p.Ser527Phe) rs1025220345
NM_020433.5(JPH2):c.1594C>T (p.Arg532Cys)
NM_020433.5(JPH2):c.1597C>G (p.Arg533Gly)
NM_020433.5(JPH2):c.1603C>T (p.Pro535Ser) rs908217758
NM_020433.5(JPH2):c.1607C>G (p.Ala536Gly)
NM_020433.5(JPH2):c.1616C>A (p.Ala539Asp)
NM_020433.5(JPH2):c.1616C>T (p.Ala539Val)
NM_020433.5(JPH2):c.1622A>G (p.Glu541Gly) rs879432950
NM_020433.5(JPH2):c.1625G>A (p.Arg542His) rs369279135
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.1645C>T (p.Gln549Ter) rs1260496472
NM_020433.5(JPH2):c.1648G>T (p.Ala550Ser) rs1215179808
NM_020433.5(JPH2):c.1655C>T (p.Pro552Leu) rs876657833
NM_020433.5(JPH2):c.1661C>T (p.Pro554Leu) rs777795267
NM_020433.5(JPH2):c.1665G>A (p.Ser555=) rs398124357
NM_020433.5(JPH2):c.1666C>T (p.Arg556Trp) rs1339089624
NM_020433.5(JPH2):c.1667G>A (p.Arg556Gln) rs780999986
NM_020433.5(JPH2):c.1676A>C (p.Glu559Ala) rs2515718043
NM_020433.5(JPH2):c.1677G>C (p.Glu559Asp) rs758352249
NM_020433.5(JPH2):c.1682C>T (p.Ala561Val) rs749992945
NM_020433.5(JPH2):c.1689C>G (p.Tyr563Ter) rs757000497
NM_020433.5(JPH2):c.1693G>A (p.Gly565Ser)
NM_020433.5(JPH2):c.1694G>A (p.Gly565Asp)
NM_020433.5(JPH2):c.1699C>G (p.His567Asp)
NM_020433.5(JPH2):c.1699C>T (p.His567Tyr) rs753473501
NM_020433.5(JPH2):c.1699dup (p.His567fs) rs2515718025
NM_020433.5(JPH2):c.1712T>C (p.Val571Ala) rs2072187674
NM_020433.5(JPH2):c.1714C>T (p.Arg572Cys) rs377366285
NM_020433.5(JPH2):c.1717A>T (p.Thr573Ser)
NM_020433.5(JPH2):c.1724C>T (p.Pro575Leu) rs1310645221
NM_020433.5(JPH2):c.1726C>T (p.Pro576Ser) rs956983036
NM_020433.5(JPH2):c.1736C>G (p.Pro579Arg) rs953353202
NM_020433.5(JPH2):c.1739C>A (p.Pro580His) rs1162090571
NM_020433.5(JPH2):c.1739C>T (p.Pro580Leu) rs1162090571
NM_020433.5(JPH2):c.1747_1752dup (p.Gln584_Pro585insAspGln) rs1803071834
NM_020433.5(JPH2):c.1750C>A (p.Gln584Lys) rs730880253
NM_020433.5(JPH2):c.1753CCCGAG[1] (p.585PE[1]) rs2515717918
NM_020433.5(JPH2):c.1759_1779dup (p.Pro587_Glu593dup) rs774773499
NM_020433.5(JPH2):c.176C>A (p.Thr59Asn) rs1171742766
NM_020433.5(JPH2):c.1772_1777dup (p.Ser592_Glu593insGlySer) rs761938315
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.1780_1839del (p.Ser594_Glu613del)
NM_020433.5(JPH2):c.1784C>T (p.Ala595Val)
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.1793C>T (p.Ser598Phe) rs753491973
NM_020433.5(JPH2):c.1795C>T (p.Pro599Ser) rs745811880
NM_020433.5(JPH2):c.1796C>G (p.Pro599Arg) rs770986432
NM_020433.5(JPH2):c.1796C>T (p.Pro599Leu) rs770986432
NM_020433.5(JPH2):c.1798G>A (p.Ala600Thr)
NM_020433.5(JPH2):c.1799C>G (p.Ala600Gly) rs1555853297
NM_020433.5(JPH2):c.179T>G (p.Phe60Cys)
NM_020433.5(JPH2):c.1802C>T (p.Thr601Ile) rs2515717864
NM_020433.5(JPH2):c.1814A>G (p.Gln605Arg) rs2145838201
NM_020433.5(JPH2):c.1823C>A (p.Thr608Lys) rs750776027
NM_020433.5(JPH2):c.1823C>G (p.Thr608Arg)
NM_020433.5(JPH2):c.1851G>C (p.Glu617Asp) rs759468707
NM_020433.5(JPH2):c.1853C>A (p.Thr618Asn) rs771037700
NM_020433.5(JPH2):c.1871C>G (p.Pro624Arg) rs2515717757
NM_020433.5(JPH2):c.1882A>G (p.Ile628Val) rs2145838095
NM_020433.5(JPH2):c.1886C>G (p.Pro629Arg)
NM_020433.5(JPH2):c.1888A>C (p.Lys630Gln) rs1569180680
NM_020433.5(JPH2):c.1900A>G (p.Arg634Gly) rs2515717734
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.1924G>A (p.Ala642Thr) rs2515717710
NM_020433.5(JPH2):c.1928G>C (p.Arg643Pro) rs1290050085
NM_020433.5(JPH2):c.1936A>G (p.Thr646Ala) rs747762930
NM_020433.5(JPH2):c.1936A>T (p.Thr646Ser) rs747762930
NM_020433.5(JPH2):c.1942G>A (p.Ala648Thr) rs2072183941
NM_020433.5(JPH2):c.1948_1965dup (p.Ala650_Arg655dup) rs1555853257
NM_020433.5(JPH2):c.1951AAG[2] (p.Lys653del) rs111666278
NM_020433.5(JPH2):c.1961C>G (p.Ala654Gly) rs1175261037
NM_020433.5(JPH2):c.1961C>T (p.Ala654Val) rs1175261037
NM_020433.5(JPH2):c.1962dup (p.Arg655fs) rs2072183597
NM_020433.5(JPH2):c.1964G>A (p.Arg655Gln) rs1569180563
NM_020433.5(JPH2):c.1972G>T (p.Ala658Ser) rs2515717639
NM_020433.5(JPH2):c.1975G>A (p.Ala659Thr) rs1600828677
NM_020433.5(JPH2):c.1982C>T (p.Ala661Val) rs1026714361
NM_020433.5(JPH2):c.1987G>C (p.Glu663Gln) rs886039170
NM_020433.5(JPH2):c.1990G>T (p.Ala664Ser) rs886039086
NM_020433.5(JPH2):c.1991C>A (p.Ala664Glu) rs766295044
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+5G>C rs2515717586
NM_020433.5(JPH2):c.2011-5C>G
NM_020433.5(JPH2):c.2023dup (p.Ile675fs)
NM_020433.5(JPH2):c.2044CTG[1] (p.Leu683del) rs2072175115
NM_020433.5(JPH2):c.2045T>C (p.Leu682Pro)
NM_020433.5(JPH2):c.205C>T (p.Arg69Trp) rs2515764387
NM_020433.5(JPH2):c.2066T>A (p.Ile689Asn) rs2515716926
NM_020433.5(JPH2):c.2070_2071del (p.Phe691fs) rs2515716919
NM_020433.5(JPH2):c.2073_2074inv (p.Val692Ile)
NM_020433.5(JPH2):c.2077C>G (p.His693Asp) rs2515716904
NM_020433.5(JPH2):c.2078A>T (p.His693Leu) rs2072174687
NM_020433.5(JPH2):c.2083_2084del (p.Leu695fs) rs2515716895
NM_020433.5(JPH2):c.211G>T (p.Gly71Trp) rs2072844994
NM_020433.5(JPH2):c.221T>C (p.Ile74Thr)
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.235C>A (p.Arg79Ser) rs753220253
NM_020433.5(JPH2):c.245A>G (p.Tyr82Cys) rs774330827
NM_020433.5(JPH2):c.250G>A (p.Gly84Ser)
NM_020433.5(JPH2):c.253G>A (p.Glu85Lys) rs2515764210
NM_020433.5(JPH2):c.272A>G (p.Lys91Arg) rs2072843641
NM_020433.5(JPH2):c.278G>T (p.Arg93Leu) rs1131692244
NM_020433.5(JPH2):c.286A>G (p.Ile96Val)
NM_020433.5(JPH2):c.289C>T (p.Arg97Trp) rs746943770
NM_020433.5(JPH2):c.296G>A (p.Ser99Asn) rs2515764096
NM_020433.5(JPH2):c.296G>C (p.Ser99Thr) rs2515764096
NM_020433.5(JPH2):c.29A>G (p.Asp10Gly)
NM_020433.5(JPH2):c.304A>T (p.Ser102Cys) rs1378910974
NM_020433.5(JPH2):c.306C>A (p.Ser102Arg) rs779455211
NM_020433.5(JPH2):c.307G>A (p.Gly103Ser) rs530754608
NM_020433.5(JPH2):c.307G>T (p.Gly103Cys) rs530754608
NM_020433.5(JPH2):c.317A>G (p.Tyr106Cys)
NM_020433.5(JPH2):c.323G>A (p.Gly108Asp) rs2145905825
NM_020433.5(JPH2):c.326C>T (p.Thr109Ile) rs1250442339
NM_020433.5(JPH2):c.338G>T (p.Gly113Val) rs2145905804
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.353A>G (p.Tyr118Cys)
NM_020433.5(JPH2):c.35G>A (p.Gly12Glu) rs2515765003
NM_020433.5(JPH2):c.361G>A (p.Glu121Lys) rs1569226231
NM_020433.5(JPH2):c.364dup (p.Thr122fs) rs2145905725
NM_020433.5(JPH2):c.373G>A (p.Asp125Asn) rs372627882
NM_020433.5(JPH2):c.376G>A (p.Gly126Arg) rs876657834
NM_020433.5(JPH2):c.379G>T (p.Gly127Trp)
NM_020433.5(JPH2):c.380-5C>T rs1257347992
NM_020433.5(JPH2):c.38C>T (p.Ala13Val)
NM_020433.5(JPH2):c.392G>A (p.Gly131Asp)
NM_020433.5(JPH2):c.409A>T (p.Met137Leu) rs1353491705
NM_020433.5(JPH2):c.416A>G (p.His139Arg) rs2072601799
NM_020433.5(JPH2):c.421T>A (p.Tyr141Asn) rs387906897
NM_020433.5(JPH2):c.424G>T (p.Gly142Ter) rs765874503
NM_020433.5(JPH2):c.430C>T (p.Arg144Cys) rs2515745317
NM_020433.5(JPH2):c.431G>A (p.Arg144His) rs1167554487
NM_020433.5(JPH2):c.434A>G (p.Gln145Arg)
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.439G>T (p.Val147Leu)
NM_020433.5(JPH2):c.448G>C (p.Gly150Arg) rs1231304653
NM_020433.5(JPH2):c.464T>C (p.Val155Ala) rs2072601326
NM_020433.5(JPH2):c.470C>T (p.Ser157Leu) rs772526418
NM_020433.5(JPH2):c.473C>G (p.Pro158Arg)
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) rs894217949
NM_020433.5(JPH2):c.479G>A (p.Arg160His) rs1296009403
NM_020433.5(JPH2):c.494C>A (p.Ser165Tyr) rs387906898
NM_020433.5(JPH2):c.497T>G (p.Leu166Arg) rs876657835
NM_020433.5(JPH2):c.499C>T (p.Arg167Cys) rs1394260721
NM_020433.5(JPH2):c.502A>C (p.Ser168Arg) rs869025439
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) rs1250267129
NM_020433.5(JPH2):c.511_516dup (p.Ser171_Asn172dup) rs864309612
NM_020433.5(JPH2):c.512G>A (p.Ser171Asn)
NM_020433.5(JPH2):c.517G>C (p.Gly173Arg) rs757693348
NM_020433.5(JPH2):c.517G>T (p.Gly173Cys) rs757693348
NM_020433.5(JPH2):c.521C>T (p.Thr174Met) rs1176695858
NM_020433.5(JPH2):c.523G>C (p.Val175Leu)
NM_020433.5(JPH2):c.52T>A (p.Trp18Arg) rs1488866517
NM_020433.5(JPH2):c.532G>A (p.Asp178Asn) rs1600858066
NM_020433.5(JPH2):c.535T>G (p.Ser179Ala)
NM_020433.5(JPH2):c.539C>T (p.Pro180Leu) rs2072600381
NM_020433.5(JPH2):c.541del (p.Ala181fs) rs1600857997
NM_020433.5(JPH2):c.553T>G (p.Ser185Ala)
NM_020433.5(JPH2):c.560G>A (p.Gly187Asp) rs1369776361
NM_020433.5(JPH2):c.560del (p.Gly187fs) rs2072600102
NM_020433.5(JPH2):c.566C>T (p.Ala189Val)
NM_020433.5(JPH2):c.574T>G (p.Ser192Ala)
NM_020433.5(JPH2):c.575C>G (p.Ser192Trp)
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) rs1186898677
NM_020433.5(JPH2):c.586C>T (p.Pro196Ser)
NM_020433.5(JPH2):c.589C>T (p.Arg197Cys) rs2072599611
NM_020433.5(JPH2):c.58G>A (p.Gly20Arg) rs988100071
NM_020433.5(JPH2):c.58G>T (p.Gly20Trp) rs988100071
NM_020433.5(JPH2):c.590G>C (p.Arg197Pro)
NM_020433.5(JPH2):c.590G>T (p.Arg197Leu) rs1258920337
NM_020433.5(JPH2):c.591_593dup (p.Gly199_Phe200insGly) rs1168246539
NM_020433.5(JPH2):c.596G>A (p.Gly199Asp) rs2072599448
NM_020433.5(JPH2):c.598T>G (p.Phe200Val) rs2515745055
NM_020433.5(JPH2):c.599T>C (p.Phe200Ser) rs2515745052
NM_020433.5(JPH2):c.5G>A (p.Ser2Asn) rs771997292
NM_020433.5(JPH2):c.601_602delinsTT (p.Ala201Leu) rs2515745046
NM_020433.5(JPH2):c.607A>G (p.Ser203Gly) rs2145879448
NM_020433.5(JPH2):c.611T>A (p.Leu204His) rs1369796322
NM_020433.5(JPH2):c.614T>A (p.Leu205Gln)
NM_020433.5(JPH2):c.617C>T (p.Ala206Val) rs2515745014
NM_020433.5(JPH2):c.624C>G (p.Ala208=) rs398124358
NM_020433.5(JPH2):c.625_645del (p.Glu209_Pro215del)
NM_020433.5(JPH2):c.62G>A (p.Gly21Glu) rs2072847837
NM_020433.5(JPH2):c.62del (p.Gly21fs) rs1206579645
NM_020433.5(JPH2):c.632C>T (p.Ala211Val) rs2515744983
NM_020433.5(JPH2):c.640_641delinsTT (p.Ala214Leu)
NM_020433.5(JPH2):c.647A>T (p.Lys216Met)
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) rs2072598641
NM_020433.5(JPH2):c.655G>A (p.Gly219Ser) rs1251565277
NM_020433.5(JPH2):c.658C>G (p.Leu220Val) rs2072598539
NM_020433.5(JPH2):c.658C>T (p.Leu220Phe) rs2072598539
NM_020433.5(JPH2):c.673G>A (p.Ala225Thr) rs1456694324
NM_020433.5(JPH2):c.674C>T (p.Ala225Val) rs2515744886
NM_020433.5(JPH2):c.676C>A (p.Leu226Met) rs1311537181
NM_020433.5(JPH2):c.67G>A (p.Ala23Thr) rs2515764845
NM_020433.5(JPH2):c.680T>G (p.Leu227Arg) rs1371285650
NM_020433.5(JPH2):c.683G>A (p.Gly228Asp) rs2072598239
NM_020433.5(JPH2):c.685A>G (p.Lys229Glu) rs2515744859
NM_020433.5(JPH2):c.686A>G (p.Lys229Arg) rs1460713621
NM_020433.5(JPH2):c.68C>T (p.Ala23Val) rs780867789
NM_020433.5(JPH2):c.694C>T (p.Arg232Cys) rs1002693181
NM_020433.5(JPH2):c.697G>T (p.Ala233Ser)
NM_020433.5(JPH2):c.700G>A (p.Glu234Lys) rs13041770
NM_020433.5(JPH2):c.713C>T (p.Ser238Phe) rs2072597802
NM_020433.5(JPH2):c.718G>T (p.Gly240Cys) rs2145879251
NM_020433.5(JPH2):c.719G>A (p.Gly240Asp)
NM_020433.5(JPH2):c.736G>A (p.Val246Ile) rs1326771127
NM_020433.5(JPH2):c.739A>G (p.Ser247Gly) rs2515744788
NM_020433.5(JPH2):c.749A>G (p.Lys250Arg) rs1162511975
NM_020433.5(JPH2):c.752G>A (p.Ser251Asn) rs2072597318
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.76C>T (p.His26Tyr) rs1223183088
NM_020433.5(JPH2):c.791C>G (p.Ala264Gly) rs2515744702
NM_020433.5(JPH2):c.793A>G (p.Ser265Gly) rs2515744698
NM_020433.5(JPH2):c.795C>G (p.Ser265Arg) rs1555858729
NM_020433.5(JPH2):c.800G>A (p.Gly267Glu) rs2515744691
NM_020433.5(JPH2):c.810_830del (p.Glu271_Ala277del) rs1308789253
NM_020433.5(JPH2):c.817G>A (p.Ala273Thr) rs371565133
NM_020433.5(JPH2):c.817G>T (p.Ala273Ser) rs371565133
NM_020433.5(JPH2):c.818C>T (p.Ala273Val) rs2515744667
NM_020433.5(JPH2):c.823G>A (p.Glu275Lys) rs760374920
NM_020433.5(JPH2):c.823G>C (p.Glu275Gln) rs760374920
NM_020433.5(JPH2):c.826G>A (p.Ala276Thr)
NM_020433.5(JPH2):c.852C>A (p.Asp284Glu) rs747209399
NM_020433.5(JPH2):c.854C>G (p.Ala285Gly) rs1252094258
NM_020433.5(JPH2):c.856ACC[2] (p.Thr288del)
NM_020433.5(JPH2):c.862A>G (p.Thr288Ala) rs2515744527
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.875T>A (p.Met292Lys)
NM_020433.5(JPH2):c.875T>C (p.Met292Thr) rs1380514288
NM_020433.5(JPH2):c.877G>T (p.Gly293Cys) rs1359821067
NM_020433.5(JPH2):c.887A>C (p.Lys296Thr) rs1600857521
NM_020433.5(JPH2):c.899G>A (p.Arg300His) rs2072594403
NM_020433.5(JPH2):c.899G>C (p.Arg300Pro) rs2072594403
NM_020433.5(JPH2):c.902C>T (p.Ser301Leu) rs1475520393
NM_020433.5(JPH2):c.910G>T (p.Gly304Cys) rs2072594160
NM_020433.5(JPH2):c.916A>G (p.Ser306Gly) rs2072594051
NM_020433.5(JPH2):c.918C>A (p.Ser306Arg)
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.937C>T (p.Arg313Cys)
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.958G>T (p.Asp320Tyr)
NM_020433.5(JPH2):c.967C>A (p.Arg323Ser) rs745718761
NM_020433.5(JPH2):c.975_976delinsAC (p.Tyr326His) rs2515744368
NM_020433.5(JPH2):c.985A>G (p.Thr329Ala) rs1555858673
NM_020433.5(JPH2):c.986C>A (p.Thr329Asn) rs1555858670

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.