ClinVar Miner

List of variants in gene JPH2 studied for Cardiovascular phenotype

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Gene type:
ClinVar version:
Total variants: 399
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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.2073T>C (p.Phe691=) rs6093935 0.33656
NM_020433.5(JPH2):c.1728C>G (p.Pro576=) rs74352869 0.22485
NM_020433.5(JPH2):c.1186G>A (p.Ala396Thr) rs3810510 0.19815
NM_020433.5(JPH2):c.1179C>T (p.His393=) rs7268512 0.08526
NM_020433.5(JPH2):c.1513G>A (p.Gly505Ser) rs140740776 0.01003
NM_020433.5(JPH2):c.661T>C (p.Phe221Leu) rs558770240 0.00630
NM_020433.5(JPH2):c.562C>T (p.Pro188Ser) rs574746149 0.00214
NM_020433.5(JPH2):c.1794C>A (p.Ser598=) rs369883442 0.00212
NM_020433.5(JPH2):c.856A>G (p.Thr286Ala) rs144022614 0.00183
NM_020433.5(JPH2):c.637C>T (p.Arg213Trp) rs767328866 0.00145
NM_020433.5(JPH2):c.642G>A (p.Ala214=) rs587780956 0.00145
NM_020433.5(JPH2):c.1971G>A (p.Glu657=) rs142333841 0.00099
NM_020433.5(JPH2):c.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 0.00072
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.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.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.702G>A (p.Glu234=) rs539149173 0.00008
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.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.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.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.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.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.843C>T (p.Ala281=) rs151305680 0.00004
NM_020433.5(JPH2):c.1180G>A (p.Ala394Thr) rs372515066 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.1640C>T (p.Ala547Val) rs772283505 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.243C>T (p.Leu81=) rs760086204 0.00003
NM_020433.5(JPH2):c.327C>A (p.Thr109=) rs1245114185 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.1772G>T (p.Gly591Val) rs766721028 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.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.1041C>A (p.Val347=) rs1035583608 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.1267G>T (p.Ala423Ser) rs753716480 0.00001
NM_020433.5(JPH2):c.1292C>T (p.Pro431Leu) rs1272859605 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.1431C>T (p.Thr477=) rs1057524121 0.00001
NM_020433.5(JPH2):c.1436G>T (p.Arg479Leu) rs1229570054 0.00001
NM_020433.5(JPH2):c.1461G>A (p.Pro487=) rs781613132 0.00001
NM_020433.5(JPH2):c.1589C>T (p.Ala530Val) rs754961884 0.00001
NM_020433.5(JPH2):c.1662G>A (p.Pro554=) rs748323930 0.00001
NM_020433.5(JPH2):c.1671G>A (p.Glu557=) rs754665306 0.00001
NM_020433.5(JPH2):c.1722G>A (p.Thr574=) rs769828263 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.1781C>T (p.Ser594Phe) rs1036911295 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.1932G>A (p.Gly644=) rs1037983273 0.00001
NM_020433.5(JPH2):c.1948G>A (p.Ala650Thr) rs111319388 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.277C>T (p.Arg93Cys) rs747893109 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.421T>C (p.Tyr141His) rs387906897 0.00001
NM_020433.5(JPH2):c.443C>T (p.Pro148Leu) rs772582964 0.00001
NM_020433.5(JPH2):c.45C>T (p.Cys15=) rs748073251 0.00001
NM_020433.5(JPH2):c.535T>C (p.Ser179Pro) rs1272379812 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.665A>G (p.Gln222Arg) rs766395991 0.00001
NM_020433.5(JPH2):c.687G>A (p.Lys229=) rs1372719506 0.00001
NM_020433.5(JPH2):c.72T>C (p.His24=) rs754405775 0.00001
NM_020433.5(JPH2):c.810C>A (p.Ala270=) rs779680763 0.00001
NM_020433.5(JPH2):c.838G>A (p.Glu280Lys) rs748282723 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
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.1016G>A (p.Gly339Asp)
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.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.1087C>T (p.Arg363Cys)
NM_020433.5(JPH2):c.1088G>A (p.Arg363His) rs757549568
NM_020433.5(JPH2):c.1103A>G (p.His368Arg)
NM_020433.5(JPH2):c.1109T>C (p.Val370Ala)
NM_020433.5(JPH2):c.1115G>A (p.Gly372Asp)
NM_020433.5(JPH2):c.1128C>A (p.Ala376=)
NM_020433.5(JPH2):c.1139C>T (p.Ala380Val)
NM_020433.5(JPH2):c.1142G>A (p.Arg381His)
NM_020433.5(JPH2):c.1148_1156del (p.Lys383_Glu385del)
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.1171A>G (p.Thr391Ala)
NM_020433.5(JPH2):c.1185_1186delinsAA (p.Ala396Thr) rs1060503798
NM_020433.5(JPH2):c.1213G>A (p.Ala405Thr) rs557878787
NM_020433.5(JPH2):c.1213G>T (p.Ala405Ser) rs557878787
NM_020433.5(JPH2):c.1232A>C (p.Glu411Ala)
NM_020433.5(JPH2):c.1243G>T (p.Ala415Ser)
NM_020433.5(JPH2):c.1249A>G (p.Thr417Ala)
NM_020433.5(JPH2):c.1296A>G (p.Glu432=)
NM_020433.5(JPH2):c.1309C>T (p.Arg437Trp)
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.1328T>C (p.Leu443Pro)
NM_020433.5(JPH2):c.1353G>A (p.Glu451=)
NM_020433.5(JPH2):c.1359C>T (p.Pro453=)
NM_020433.5(JPH2):c.1360G>A (p.Asp454Asn)
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.1396C>T (p.Pro466Ser)
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.1417C>T (p.His473Tyr)
NM_020433.5(JPH2):c.1419C>T (p.His473=) rs1471827464
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.1452C>T (p.Ser484=)
NM_020433.5(JPH2):c.1460C>T (p.Pro487Leu)
NM_020433.5(JPH2):c.1464C>G (p.Ala488=)
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.1521G>A (p.Leu507=)
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.1563C>T (p.Ser521=)
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.1648G>T (p.Ala550Ser)
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.1666C>G (p.Arg556Gly)
NM_020433.5(JPH2):c.1666C>T (p.Arg556Trp)
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.1699dup (p.His567fs)
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.1736C>G (p.Pro579Arg)
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.1772_1777dup (p.Ser592_Glu593insGlySer)
NM_020433.5(JPH2):c.1776C>T (p.Ser592=)
NM_020433.5(JPH2):c.1778A>G (p.Glu593Gly) rs1569180881
NM_020433.5(JPH2):c.1779G>A (p.Glu593=)
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.1823C>A (p.Thr608Lys) rs750776027
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.1853C>A (p.Thr618Asn)
NM_020433.5(JPH2):c.1857C>T (p.Pro619=)
NM_020433.5(JPH2):c.1861A>G (p.Lys621Glu)
NM_020433.5(JPH2):c.1900A>G (p.Arg634Gly)
NM_020433.5(JPH2):c.1903G>C (p.Ala635Pro) rs1409841420
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.1937C>G (p.Thr646Ser) rs1600828763
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.1964G>A (p.Arg655Gln) rs1569180563
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.1990G>T (p.Ala664Ser)
NM_020433.5(JPH2):c.1992G>A (p.Ala664=) rs781384540
NM_020433.5(JPH2):c.2010+5G>C
NM_020433.5(JPH2):c.2011G>A (p.Val671Ile)
NM_020433.5(JPH2):c.2015C>T (p.Pro672Leu)
NM_020433.5(JPH2):c.202A>C (p.Lys68Gln)
NM_020433.5(JPH2):c.2056G>A (p.Gly686Ser)
NM_020433.5(JPH2):c.205C>T (p.Arg69Trp)
NM_020433.5(JPH2):c.2073_2074inv (p.Val692Ile)
NM_020433.5(JPH2):c.2074G>A (p.Val692Ile)
NM_020433.5(JPH2):c.2078A>T (p.His693Leu)
NM_020433.5(JPH2):c.2083_2084del (p.Leu695fs)
NM_020433.5(JPH2):c.216G>T (p.Leu72=) rs1204338991
NM_020433.5(JPH2):c.234G>T (p.Gly78=)
NM_020433.5(JPH2):c.235C>A (p.Arg79Ser)
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.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.291G>T (p.Arg97=)
NM_020433.5(JPH2):c.303C>T (p.Ser101=)
NM_020433.5(JPH2):c.304A>T (p.Ser102Cys)
NM_020433.5(JPH2):c.307G>T (p.Gly103Cys)
NM_020433.5(JPH2):c.316T>C (p.Tyr106His)
NM_020433.5(JPH2):c.348C>T (p.Asp116=)
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.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.370G>A (p.Ala124Thr)
NM_020433.5(JPH2):c.373G>A (p.Asp125Asn)
NM_020433.5(JPH2):c.384G>A (p.Thr128=)
NM_020433.5(JPH2):c.421T>A (p.Tyr141Asn)
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.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.470C>T (p.Ser157Leu)
NM_020433.5(JPH2):c.476T>A (p.Leu159Gln) rs886038834
NM_020433.5(JPH2):c.479G>A (p.Arg160His)
NM_020433.5(JPH2):c.499C>T (p.Arg167Cys)
NM_020433.5(JPH2):c.50G>T (p.Gly17Val)
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.540C>G (p.Pro180=)
NM_020433.5(JPH2):c.547C>G (p.Pro183Ala)
NM_020433.5(JPH2):c.549G>A (p.Pro183=)
NM_020433.5(JPH2):c.560G>A (p.Gly187Asp)
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.589C>T (p.Arg197Cys)
NM_020433.5(JPH2):c.58G>C (p.Gly20Arg)
NM_020433.5(JPH2):c.58G>T (p.Gly20Trp)
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.599T>C (p.Phe200Ser)
NM_020433.5(JPH2):c.618C>A (p.Ala206=)
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.629C>A (p.Ala210Glu)
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.649G>A (p.Gly217Ser) rs1346458604
NM_020433.5(JPH2):c.652G>A (p.Gly218Ser)
NM_020433.5(JPH2):c.655G>A (p.Gly219Ser)
NM_020433.5(JPH2):c.658C>T (p.Leu220Phe)
NM_020433.5(JPH2):c.67G>A (p.Ala23Thr)
NM_020433.5(JPH2):c.688C>T (p.Leu230=)
NM_020433.5(JPH2):c.68C>T (p.Ala23Val)
NM_020433.5(JPH2):c.705G>A (p.Ser235=)
NM_020433.5(JPH2):c.713C>T (p.Ser238Phe)
NM_020433.5(JPH2):c.715G>C (p.Val239Leu)
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.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.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.775G>A (p.Asp259Asn)
NM_020433.5(JPH2):c.791C>G (p.Ala264Gly)
NM_020433.5(JPH2):c.800G>A (p.Gly267Glu)
NM_020433.5(JPH2):c.817G>A (p.Ala273Thr)
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.852C>A (p.Asp284Glu) rs747209399
NM_020433.5(JPH2):c.862A>G (p.Thr288Ala)
NM_020433.5(JPH2):c.869C>T (p.Thr290Ile) rs757257639
NM_020433.5(JPH2):c.897A>G (p.Lys299=)
NM_020433.5(JPH2):c.903G>A (p.Ser301=)
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.933C>T (p.Gly311=)
NM_020433.5(JPH2):c.949G>A (p.Glu317Lys) rs1054295023
NM_020433.5(JPH2):c.972C>T (p.His324=) rs757316297
NM_020433.5(JPH2):c.9G>A (p.Gly3=)

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