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.1852A>G (p.Thr618Ala)
|
rs376612687
|
0.00017
|
NM_020433.5(JPH2):c.1465G>A (p.Gly489Arg)
|
rs1446439010
|
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.1732C>A (p.Pro578Thr)
|
rs746846724
|
0.00010
|
NM_020433.5(JPH2):c.1896G>C (p.Glu632Asp)
|
rs367563723
|
0.00010
|
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.1433C>T (p.Pro478Leu)
|
rs970525996
|
0.00006
|
NM_020433.5(JPH2):c.1486C>T (p.Arg496Trp)
|
rs863224775
|
0.00006
|
NM_020433.5(JPH2):c.349G>A (p.Gly117Ser)
|
rs1414551155
|
0.00006
|
NM_020433.5(JPH2):c.1420G>A (p.Glu474Lys)
|
rs1033476644
|
0.00005
|
NM_020433.5(JPH2):c.1894G>A (p.Glu632Lys)
|
rs200149713
|
0.00005
|
NM_020433.5(JPH2):c.1033G>C (p.Val345Leu)
|
rs748233107
|
0.00004
|
NM_020433.5(JPH2):c.1202C>T (p.Ala401Val)
|
rs774001072
|
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.2062G>A (p.Ala688Thr)
|
rs540933939
|
0.00004
|
NM_020433.5(JPH2):c.299C>T (p.Ser100Leu)
|
rs145401873
|
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.1363C>T (p.Arg455Trp)
|
rs767514641
|
0.00003
|
NM_020433.5(JPH2):c.1577C>T (p.Pro526Leu)
|
rs756327822
|
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.457G>A (p.Val153Met)
|
rs747722861
|
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.1564C>T (p.Arg522Trp)
|
rs770850932
|
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.1951A>G (p.Lys651Glu)
|
rs778410296
|
0.00002
|
NM_020433.5(JPH2):c.541G>A (p.Ala181Thr)
|
rs1304705938
|
0.00002
|
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.1175G>A (p.Ser392Asn)
|
rs148621426
|
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.1394C>T (p.Pro465Leu)
|
rs908189174
|
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.1508A>G (p.Lys503Arg)
|
rs1457124939
|
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.1690C>T (p.Gln564Ter)
|
rs1185542895
|
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.1781C>T (p.Ser594Phe)
|
rs1036911295
|
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.1862A>G (p.Lys621Arg)
|
rs2072184846
|
0.00001
|
NM_020433.5(JPH2):c.1901G>A (p.Arg634Lys)
|
rs759806993
|
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.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.277C>T (p.Arg93Cys)
|
rs747893109
|
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.385T>G (p.Tyr129Asp)
|
rs777856415
|
0.00001
|
NM_020433.5(JPH2):c.406G>A (p.Gly136Ser)
|
rs767281714
|
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.515A>G (p.Asn172Ser)
|
rs1170915460
|
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.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.723C>G (p.Ser241Arg)
|
rs587782952
|
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.833C>G (p.Pro278Arg)
|
rs1226206290
|
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.962A>G (p.Asn321Ser)
|
rs373731005
|
0.00001
|
NM_020433.5(JPH2):c.968G>A (p.Arg323His)
|
rs778739555
|
0.00001
|
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.1062G>C (p.Met354Ile)
|
rs546800323
|
|
NM_020433.5(JPH2):c.1079A>T (p.Asn360Ile)
|
|
|
NM_020433.5(JPH2):c.1083G>T (p.Lys361Asn)
|
rs971528622
|
|
NM_020433.5(JPH2):c.109G>A (p.Glu37Lys)
|
|
|
NM_020433.5(JPH2):c.109G>C (p.Glu37Gln)
|
rs1427861059
|
|
NM_020433.5(JPH2):c.1106G>C (p.Ser369Thr)
|
rs1600857310
|
|
NM_020433.5(JPH2):c.1115G>A (p.Gly372Asp)
|
|
|
NM_020433.5(JPH2):c.1123C>T (p.Arg375Cys)
|
rs1199319789
|
|
NM_020433.5(JPH2):c.1139C>A (p.Ala380Glu)
|
rs1216466447
|
|
NM_020433.5(JPH2):c.1142G>A (p.Arg381His)
|
|
|
NM_020433.5(JPH2):c.1148_1156del (p.Lys383_Glu385del)
|
|
|
NM_020433.5(JPH2):c.1162G>A (p.Ala388Thr)
|
|
|
NM_020433.5(JPH2):c.1170-3T>C
|
|
|
NM_020433.5(JPH2):c.1171A>G (p.Thr391Ala)
|
|
|
NM_020433.5(JPH2):c.1180_1181del (p.Ala394fs)
|
|
|
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.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.1235C>G (p.Ser412Cys)
|
rs1004964815
|
|
NM_020433.5(JPH2):c.1247G>A (p.Arg416His)
|
rs190802013
|
|
NM_020433.5(JPH2):c.1263G>T (p.Glu421Asp)
|
|
|
NM_020433.5(JPH2):c.1288+4G>A
|
rs1012633542
|
|
NM_020433.5(JPH2):c.1288+6del
|
|
|
NM_020433.5(JPH2):c.1296del (p.Glu432fs)
|
|
|
NM_020433.5(JPH2):c.1309C>T (p.Arg437Trp)
|
|
|
NM_020433.5(JPH2):c.1332G>T (p.Glu444Asp)
|
|
|
NM_020433.5(JPH2):c.1342A>G (p.Ser448Gly)
|
|
|
NM_020433.5(JPH2):c.1355C>T (p.Pro452Leu)
|
|
|
NM_020433.5(JPH2):c.1359_1388del (p.Asp454_Pro463del)
|
rs2145838837
|
|
NM_020433.5(JPH2):c.1361A>C (p.Asp454Ala)
|
|
|
NM_020433.5(JPH2):c.1367G>A (p.Gly456Asp)
|
|
|
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.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.1409C>T (p.Pro470Leu)
|
rs1312283242
|
|
NM_020433.5(JPH2):c.140A>C (p.Glu47Ala)
|
rs2072846446
|
|
NM_020433.5(JPH2):c.1430C>A (p.Thr477Asn)
|
|
|
NM_020433.5(JPH2):c.1442A>C (p.Glu481Ala)
|
|
|
NM_020433.5(JPH2):c.1445G>A (p.Gly482Asp)
|
|
|
NM_020433.5(JPH2):c.1459C>T (p.Pro487Ser)
|
|
|
NM_020433.5(JPH2):c.1464C>A (p.Ala488=)
|
rs1060499997
|
|
NM_020433.5(JPH2):c.1477C>T (p.Gln493Ter)
|
rs2072190444
|
|
NM_020433.5(JPH2):c.1487G>A (p.Arg496Gln)
|
rs1404072085
|
|
NM_020433.5(JPH2):c.1513G>C (p.Gly505Arg)
|
rs140740776
|
|
NM_020433.5(JPH2):c.1516C>G (p.Leu506Val)
|
|
|
NM_020433.5(JPH2):c.1529G>A (p.Gly510Asp)
|
|
|
NM_020433.5(JPH2):c.1552G>A (p.Gly518Ser)
|
|
|
NM_020433.5(JPH2):c.1552G>T (p.Gly518Cys)
|
rs926337524
|
|
NM_020433.5(JPH2):c.1573A>G (p.Thr525Ala)
|
|
|
NM_020433.5(JPH2):c.1598G>A (p.Arg533His)
|
|
|
NM_020433.5(JPH2):c.1624C>T (p.Arg542Cys)
|
|
|
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.164C>T (p.Pro55Leu)
|
rs1060499996
|
|
NM_020433.5(JPH2):c.1652C>T (p.Pro551Leu)
|
|
|
NM_020433.5(JPH2):c.1666C>G (p.Arg556Gly)
|
|
|
NM_020433.5(JPH2):c.1682C>T (p.Ala561Val)
|
|
|
NM_020433.5(JPH2):c.1699C>T (p.His567Tyr)
|
|
|
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.1726C>T (p.Pro576Ser)
|
|
|
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.1759_1779dup (p.Pro587_Glu593dup)
|
rs774773499
|
|
NM_020433.5(JPH2):c.176C>A (p.Thr59Asn)
|
|
|
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.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.1814A>G (p.Gln605Arg)
|
rs2145838201
|
|
NM_020433.5(JPH2):c.1817C>T (p.Ala606Val)
|
|
|
NM_020433.5(JPH2):c.1823C>A (p.Thr608Lys)
|
rs750776027
|
|
NM_020433.5(JPH2):c.1826T>C (p.Leu609Pro)
|
|
|
NM_020433.5(JPH2):c.1871C>G (p.Pro624Arg)
|
|
|
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.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.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.1948_1965dup (p.Ala650_Arg655dup)
|
rs1555853257
|
|
NM_020433.5(JPH2):c.1951AAG[2] (p.Lys653del)
|
rs111666278
|
|
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.1975G>A (p.Ala659Thr)
|
rs1600828677
|
|
NM_020433.5(JPH2):c.1991C>A (p.Ala664Glu)
|
rs766295044
|
|
NM_020433.5(JPH2):c.2006_2010+1dup
|
rs2072182869
|
|
NM_020433.5(JPH2):c.2018A>G (p.Asn673Ser)
|
rs781780252
|
|
NM_020433.5(JPH2):c.2021C>T (p.Thr674Ile)
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|
|
NM_020433.5(JPH2):c.2035A>G (p.Met679Val)
|
|
|
NM_020433.5(JPH2):c.2044CTG[1] (p.Leu683del)
|
rs2072175115
|
|
NM_020433.5(JPH2):c.2066T>C (p.Ile689Thr)
|
|
|
NM_020433.5(JPH2):c.2073_2074inv (p.Val692Ile)
|
|
|
NM_020433.5(JPH2):c.2077C>G (p.His693Asp)
|
|
|
NM_020433.5(JPH2):c.211G>T (p.Gly71Trp)
|
|
|
NM_020433.5(JPH2):c.229A>G (p.Lys77Glu)
|
rs2072844538
|
|
NM_020433.5(JPH2):c.235C>T (p.Arg79Cys)
|
|
|
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.266G>A (p.Gly89Asp)
|
|
|
NM_020433.5(JPH2):c.289C>T (p.Arg97Trp)
|
rs746943770
|
|
NM_020433.5(JPH2):c.296G>A (p.Ser99Asn)
|
|
|
NM_020433.5(JPH2):c.296G>C (p.Ser99Thr)
|
|
|
NM_020433.5(JPH2):c.306C>A (p.Ser102Arg)
|
|
|
NM_020433.5(JPH2):c.307G>A (p.Gly103Ser)
|
rs530754608
|
|
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.361G>A (p.Glu121Lys)
|
rs1569226231
|
|
NM_020433.5(JPH2):c.364dup (p.Thr122fs)
|
rs2145905725
|
|
NM_020433.5(JPH2):c.376G>A (p.Gly126Arg)
|
rs876657834
|
|
NM_020433.5(JPH2):c.409A>T (p.Met137Leu)
|
|
|
NM_020433.5(JPH2):c.416A>G (p.His139Arg)
|
|
|
NM_020433.5(JPH2):c.424G>A (p.Gly142Arg)
|
|
|
NM_020433.5(JPH2):c.436A>G (p.Ser146Gly)
|
rs1600858194
|
|
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.464T>C (p.Val155Ala)
|
rs2072601326
|
|
NM_020433.5(JPH2):c.466C>T (p.Arg156Cys)
|
rs543732492
|
|
NM_020433.5(JPH2):c.470C>T (p.Ser157Leu)
|
|
|
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.499C>A (p.Arg167Ser)
|
|
|
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.511_516dup (p.Ser171_Asn172dup)
|
rs864309612
|
|
NM_020433.5(JPH2):c.517G>C (p.Gly173Arg)
|
rs757693348
|
|
NM_020433.5(JPH2):c.521C>T (p.Thr174Met)
|
|
|
NM_020433.5(JPH2):c.532G>A (p.Asp178Asn)
|
rs1600858066
|
|
NM_020433.5(JPH2):c.539C>T (p.Pro180Leu)
|
rs2072600381
|
|
NM_020433.5(JPH2):c.547C>G (p.Pro183Ala)
|
|
|
NM_020433.5(JPH2):c.560del (p.Gly187fs)
|
|
|
NM_020433.5(JPH2):c.57G>T (p.Glu19Asp)
|
|
|
NM_020433.5(JPH2):c.580G>T (p.Ala194Ser)
|
rs914203878
|
|
NM_020433.5(JPH2):c.586C>G (p.Pro196Ala)
|
|
|
NM_020433.5(JPH2):c.590G>A (p.Arg197His)
|
|
|
NM_020433.5(JPH2):c.590G>T (p.Arg197Leu)
|
rs1258920337
|
|
NM_020433.5(JPH2):c.596G>A (p.Gly199Asp)
|
rs2072599448
|
|
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.622G>A (p.Ala208Thr)
|
|
|
NM_020433.5(JPH2):c.62G>A (p.Gly21Glu)
|
rs2072847837
|
|
NM_020433.5(JPH2):c.646A>C (p.Lys216Gln)
|
|
|
NM_020433.5(JPH2):c.649G>A (p.Gly217Ser)
|
rs1346458604
|
|
NM_020433.5(JPH2):c.650_651delinsCT (p.Gly217Ala)
|
rs2145879374
|
|
NM_020433.5(JPH2):c.658C>G (p.Leu220Val)
|
|
|
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.700G>A (p.Glu234Lys)
|
rs13041770
|
|
NM_020433.5(JPH2):c.718G>T (p.Gly240Cys)
|
rs2145879251
|
|
NM_020433.5(JPH2):c.739A>G (p.Ser247Gly)
|
|
|
NM_020433.5(JPH2):c.756C>A (p.Asp252Glu)
|
rs2145879184
|
|
NM_020433.5(JPH2):c.775G>A (p.Asp259Asn)
|
|
|
NM_020433.5(JPH2):c.793A>G (p.Ser265Gly)
|
|
|
NM_020433.5(JPH2):c.795C>G (p.Ser265Arg)
|
rs1555858729
|
|
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.852C>A (p.Asp284Glu)
|
rs747209399
|
|
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.887A>C (p.Lys296Thr)
|
rs1600857521
|
|
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.92G>A (p.Gly31Asp)
|
rs1569226648
|
|
NM_020433.5(JPH2):c.931G>A (p.Gly311Ser)
|
|
|
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.967C>A (p.Arg323Ser)
|
|
|
NM_020433.5(JPH2):c.975_976delinsAC (p.Tyr326His)
|
|
|
NM_020433.5(JPH2):c.986C>A (p.Thr329Asn)
|
rs1555858670
|
|
NM_020433.5(JPH2):c.98A>G (p.Lys33Arg)
|
rs573848816
|
|