NM_015450.3(POT1):c.64A>G (p.Ile22Val)
|
rs375440229
|
0.00019
|
NM_015450.3(POT1):c.670G>A (p.Asp224Asn)
|
rs202187871
|
0.00012
|
NM_015450.3(POT1):c.1217C>T (p.Thr406Ile)
|
rs143841721
|
0.00006
|
NM_015450.3(POT1):c.1416T>G (p.Ser472Arg)
|
rs146643991
|
0.00006
|
NM_015450.3(POT1):c.1841A>G (p.Asn614Ser)
|
rs202024401
|
0.00006
|
NM_015450.3(POT1):c.526G>A (p.Gly176Arg)
|
rs774576173
|
0.00005
|
NM_015450.3(POT1):c.1168G>A (p.Glu390Lys)
|
rs769997937
|
0.00004
|
NM_015450.3(POT1):c.1178A>G (p.His393Arg)
|
rs746416077
|
0.00004
|
NM_015450.3(POT1):c.1186G>A (p.Asp396Asn)
|
rs148956533
|
0.00004
|
NM_015450.3(POT1):c.1442A>G (p.Glu481Gly)
|
rs548024862
|
0.00004
|
NM_015450.3(POT1):c.1482A>G (p.Ile494Met)
|
rs764303246
|
0.00004
|
NM_015450.3(POT1):c.1877A>T (p.Asp626Val)
|
rs545521975
|
0.00004
|
NM_015450.3(POT1):c.703G>A (p.Val235Ile)
|
rs753638532
|
0.00004
|
NM_015450.3(POT1):c.1088G>A (p.Arg363Gln)
|
rs141407528
|
0.00003
|
NM_015450.3(POT1):c.1214C>T (p.Ala405Val)
|
rs904242272
|
0.00003
|
NM_015450.3(POT1):c.1256A>G (p.Tyr419Cys)
|
rs770213689
|
0.00003
|
NM_015450.3(POT1):c.1295G>A (p.Arg432Gln)
|
rs772590775
|
0.00003
|
NM_015450.3(POT1):c.1441G>A (p.Glu481Lys)
|
rs200494750
|
0.00003
|
NM_015450.3(POT1):c.1490C>A (p.Thr497Lys)
|
rs879897044
|
0.00003
|
NM_015450.3(POT1):c.1594G>C (p.Ala532Pro)
|
rs537377921
|
0.00003
|
NM_015450.3(POT1):c.1742A>G (p.Lys581Arg)
|
rs201023336
|
0.00003
|
NM_015450.3(POT1):c.1810G>A (p.Glu604Lys)
|
rs753762757
|
0.00003
|
NM_015450.3(POT1):c.71A>G (p.Asn24Ser)
|
rs372235657
|
0.00003
|
NM_015450.3(POT1):c.896C>T (p.Ala299Val)
|
rs913532816
|
0.00003
|
NM_015450.3(POT1):c.977T>C (p.Val326Ala)
|
rs75932146
|
0.00003
|
NM_015450.3(POT1):c.1142A>G (p.His381Arg)
|
rs1342448188
|
0.00002
|
NM_015450.3(POT1):c.1183G>A (p.Gly395Ser)
|
rs757373061
|
0.00002
|
NM_015450.3(POT1):c.1287A>C (p.Gln429His)
|
rs777842421
|
0.00002
|
NM_015450.3(POT1):c.1337C>T (p.Pro446Leu)
|
rs761176134
|
0.00002
|
NM_015450.3(POT1):c.1568C>G (p.Ser523Trp)
|
rs139388603
|
0.00002
|
NM_015450.3(POT1):c.1606G>A (p.Val536Ile)
|
rs1174783791
|
0.00002
|
NM_015450.3(POT1):c.1820T>C (p.Ile607Thr)
|
rs940749964
|
0.00002
|
NM_015450.3(POT1):c.1864T>C (p.Tyr622His)
|
rs188854542
|
0.00002
|
NM_015450.3(POT1):c.239G>A (p.Arg80His)
|
rs868664738
|
0.00002
|
NM_015450.3(POT1):c.30A>G (p.Ile10Met)
|
rs367937904
|
0.00002
|
NM_015450.3(POT1):c.439T>G (p.Ser147Ala)
|
rs766947417
|
0.00002
|
NM_015450.3(POT1):c.449T>C (p.Leu150Ser)
|
rs918544320
|
0.00002
|
NM_015450.3(POT1):c.623G>A (p.Ser208Asn)
|
rs776459318
|
0.00002
|
NM_015450.3(POT1):c.70A>G (p.Asn24Asp)
|
rs201796132
|
0.00002
|
NM_015450.3(POT1):c.763A>C (p.Asn255His)
|
rs1260902476
|
0.00002
|
NM_015450.3(POT1):c.769A>G (p.Thr257Ala)
|
rs763712423
|
0.00002
|
NM_015450.3(POT1):c.814G>A (p.Gly272Ser)
|
rs781279819
|
0.00002
|
NM_015450.3(POT1):c.1006+7C>G
|
rs766684073
|
0.00001
|
NM_015450.3(POT1):c.1007-1G>A
|
rs1584758519
|
0.00001
|
NM_015450.3(POT1):c.1021C>G (p.Gln341Glu)
|
rs767757297
|
0.00001
|
NM_015450.3(POT1):c.1067C>T (p.Ala356Val)
|
rs1342019926
|
0.00001
|
NM_015450.3(POT1):c.1082G>A (p.Arg361His)
|
rs778352298
|
0.00001
|
NM_015450.3(POT1):c.1084A>G (p.Ile362Val)
|
rs1460433561
|
0.00001
|
NM_015450.3(POT1):c.1106A>G (p.Tyr369Cys)
|
rs763905854
|
0.00001
|
NM_015450.3(POT1):c.1130C>G (p.Ser377Cys)
|
rs776187798
|
0.00001
|
NM_015450.3(POT1):c.1213G>A (p.Ala405Thr)
|
rs753851042
|
0.00001
|
NM_015450.3(POT1):c.1225C>T (p.Pro409Ser)
|
rs1230052693
|
0.00001
|
NM_015450.3(POT1):c.1234A>G (p.Lys412Glu)
|
rs371992419
|
0.00001
|
NM_015450.3(POT1):c.1235A>C (p.Lys412Thr)
|
rs1432715110
|
0.00001
|
NM_015450.3(POT1):c.1246A>G (p.Thr416Ala)
|
rs761543329
|
0.00001
|
NM_015450.3(POT1):c.1255T>C (p.Tyr419His)
|
rs773811344
|
0.00001
|
NM_015450.3(POT1):c.1279A>G (p.Lys427Glu)
|
rs771420212
|
0.00001
|
NM_015450.3(POT1):c.1315G>T (p.Val439Leu)
|
rs547000637
|
0.00001
|
NM_015450.3(POT1):c.1322A>G (p.Asn441Ser)
|
rs1477300313
|
0.00001
|
NM_015450.3(POT1):c.1333C>T (p.Leu445Phe)
|
rs1416672170
|
0.00001
|
NM_015450.3(POT1):c.1340T>C (p.Leu447Pro)
|
rs1450240396
|
0.00001
|
NM_015450.3(POT1):c.1363A>G (p.Ile455Val)
|
rs776965979
|
0.00001
|
NM_015450.3(POT1):c.1367A>C (p.Glu456Ala)
|
rs771226403
|
0.00001
|
NM_015450.3(POT1):c.1378C>G (p.Leu460Val)
|
rs772428072
|
0.00001
|
NM_015450.3(POT1):c.1391G>A (p.Cys464Tyr)
|
rs774285671
|
0.00001
|
NM_015450.3(POT1):c.1394A>G (p.Lys465Arg)
|
rs369417655
|
0.00001
|
NM_015450.3(POT1):c.1411A>C (p.Asn471His)
|
rs1562977912
|
0.00001
|
NM_015450.3(POT1):c.1459G>A (p.Asp487Asn)
|
rs1405688297
|
0.00001
|
NM_015450.3(POT1):c.145A>G (p.Ile49Val)
|
rs1345686360
|
0.00001
|
NM_015450.3(POT1):c.1468G>A (p.Ala490Thr)
|
rs1794871998
|
0.00001
|
NM_015450.3(POT1):c.1481T>A (p.Ile494Lys)
|
rs774858551
|
0.00001
|
NM_015450.3(POT1):c.148G>T (p.Val50Leu)
|
rs1688233518
|
0.00001
|
NM_015450.3(POT1):c.1492A>G (p.Ile498Val)
|
rs367607560
|
0.00001
|
NM_015450.3(POT1):c.1505+3A>G
|
rs1227070716
|
0.00001
|
NM_015450.3(POT1):c.1523G>A (p.Ser508Asn)
|
rs144522387
|
0.00001
|
NM_015450.3(POT1):c.1534A>G (p.Ile512Val)
|
rs1179111946
|
0.00001
|
NM_015450.3(POT1):c.1536A>G (p.Ile512Met)
|
rs765347563
|
0.00001
|
NM_015450.3(POT1):c.1555G>A (p.Val519Ile)
|
rs776873207
|
0.00001
|
NM_015450.3(POT1):c.1559A>G (p.Asp520Gly)
|
rs1370868219
|
0.00001
|
NM_015450.3(POT1):c.1562A>G (p.Lys521Arg)
|
rs1482392861
|
0.00001
|
NM_015450.3(POT1):c.1565C>T (p.Thr522Ile)
|
rs754745002
|
0.00001
|
NM_015450.3(POT1):c.1585G>A (p.Val529Met)
|
rs34973253
|
0.00001
|
NM_015450.3(POT1):c.1612C>G (p.Leu538Val)
|
rs768610116
|
0.00001
|
NM_015450.3(POT1):c.1617A>T (p.Gln539His)
|
rs973319258
|
0.00001
|
NM_015450.3(POT1):c.1630A>G (p.Met544Val)
|
rs762424988
|
0.00001
|
NM_015450.3(POT1):c.1678A>G (p.Met560Val)
|
rs1351302431
|
0.00001
|
NM_015450.3(POT1):c.1702A>G (p.Ile568Val)
|
rs150719673
|
0.00001
|
NM_015450.3(POT1):c.1717G>A (p.Val573Ile)
|
rs780379750
|
0.00001
|
NM_015450.3(POT1):c.1724T>C (p.Met575Thr)
|
rs1238381156
|
0.00001
|
NM_015450.3(POT1):c.1759A>G (p.Met587Val)
|
rs757479590
|
0.00001
|
NM_015450.3(POT1):c.175T>G (p.Cys59Gly)
|
rs1418472108
|
0.00001
|
NM_015450.3(POT1):c.1791T>C (p.Ile597=)
|
rs1462868950
|
0.00001
|
NM_015450.3(POT1):c.1832A>G (p.Asn611Ser)
|
rs376707680
|
0.00001
|
NM_015450.3(POT1):c.1865A>G (p.Tyr622Cys)
|
rs760062934
|
0.00001
|
NM_015450.3(POT1):c.1870A>G (p.Ile624Val)
|
rs1410012081
|
0.00001
|
NM_015450.3(POT1):c.1877A>G (p.Asp626Gly)
|
rs545521975
|
0.00001
|
NM_015450.3(POT1):c.197A>G (p.Tyr66Cys)
|
rs776085350
|
0.00001
|
NM_015450.3(POT1):c.19A>G (p.Thr7Ala)
|
rs1584792050
|
0.00001
|
NM_015450.3(POT1):c.211A>G (p.Ile71Val)
|
rs776844142
|
0.00001
|
NM_015450.3(POT1):c.224A>G (p.Asn75Ser)
|
rs1044174795
|
0.00001
|
NM_015450.3(POT1):c.22A>G (p.Asn8Asp)
|
rs1454480268
|
0.00001
|
NM_015450.3(POT1):c.238C>T (p.Arg80Cys)
|
rs778692211
|
0.00001
|
NM_015450.3(POT1):c.280C>G (p.Gln94Glu)
|
rs587777474
|
0.00001
|
NM_015450.3(POT1):c.286A>G (p.Ile96Val)
|
rs778571153
|
0.00001
|
NM_015450.3(POT1):c.290C>A (p.Thr97Asn)
|
rs1436205180
|
0.00001
|
NM_015450.3(POT1):c.298G>A (p.Gly100Ser)
|
rs1377594973
|
0.00001
|
NM_015450.3(POT1):c.29T>C (p.Ile10Thr)
|
rs1397305271
|
0.00001
|
NM_015450.3(POT1):c.31T>C (p.Tyr11His)
|
rs1584792034
|
0.00001
|
NM_015450.3(POT1):c.323G>C (p.Gly108Ala)
|
rs1290433563
|
0.00001
|
NM_015450.3(POT1):c.335C>T (p.Ala112Val)
|
rs1795650931
|
0.00001
|
NM_015450.3(POT1):c.342C>G (p.Ile114Met)
|
rs989904335
|
0.00001
|
NM_015450.3(POT1):c.343A>C (p.Ile115Leu)
|
rs755644182
|
0.00001
|
NM_015450.3(POT1):c.344T>C (p.Ile115Thr)
|
rs749877603
|
0.00001
|
NM_015450.3(POT1):c.395T>C (p.Met132Thr)
|
rs564097106
|
0.00001
|
NM_015450.3(POT1):c.409C>T (p.Arg137Cys)
|
rs765706794
|
0.00001
|
NM_015450.3(POT1):c.43A>C (p.Asn15His)
|
rs1554434768
|
0.00001
|
NM_015450.3(POT1):c.44A>G (p.Asn15Ser)
|
rs764821384
|
0.00001
|
NM_015450.3(POT1):c.475A>G (p.Met159Val)
|
rs1449504013
|
0.00001
|
NM_015450.3(POT1):c.485T>A (p.Phe162Tyr)
|
rs1357083058
|
0.00001
|
NM_015450.3(POT1):c.512A>G (p.Lys171Arg)
|
rs1284442583
|
0.00001
|
NM_015450.3(POT1):c.535T>C (p.Phe179Leu)
|
rs775453323
|
0.00001
|
NM_015450.3(POT1):c.546G>A (p.Lys182=)
|
rs1280084769
|
0.00001
|
NM_015450.3(POT1):c.547-3C>A
|
rs770890978
|
0.00001
|
NM_015450.3(POT1):c.547G>A (p.Val183Ile)
|
rs1186225134
|
0.00001
|
NM_015450.3(POT1):c.557G>A (p.Gly186Asp)
|
rs1205880072
|
0.00001
|
NM_015450.3(POT1):c.563G>C (p.Arg188Thr)
|
rs1161774277
|
0.00001
|
NM_015450.3(POT1):c.635G>A (p.Arg212Gln)
|
rs746903370
|
0.00001
|
NM_015450.3(POT1):c.653T>C (p.Ile218Thr)
|
rs376770473
|
0.00001
|
NM_015450.3(POT1):c.657C>A (p.Asp219Glu)
|
rs1795515779
|
0.00001
|
NM_015450.3(POT1):c.688G>A (p.Ala230Thr)
|
rs1315178609
|
0.00001
|
NM_015450.3(POT1):c.701A>C (p.Lys234Thr)
|
rs1482095774
|
0.00001
|
NM_015450.3(POT1):c.725A>G (p.Tyr242Cys)
|
rs1188122279
|
0.00001
|
NM_015450.3(POT1):c.739A>G (p.Lys247Glu)
|
rs1360260625
|
0.00001
|
NM_015450.3(POT1):c.73G>A (p.Val25Ile)
|
rs375825837
|
0.00001
|
NM_015450.3(POT1):c.753G>A (p.Met251Ile)
|
rs1172142052
|
0.00001
|
NM_015450.3(POT1):c.768G>C (p.Gln256His)
|
rs577386630
|
0.00001
|
NM_015450.3(POT1):c.779G>C (p.Ser260Thr)
|
rs1323715274
|
0.00001
|
NM_015450.3(POT1):c.77A>G (p.Tyr26Cys)
|
rs1197625483
|
0.00001
|
NM_015450.3(POT1):c.841A>G (p.Ser281Gly)
|
rs780098976
|
0.00001
|
NM_015450.3(POT1):c.853G>A (p.Val285Met)
|
rs1795350062
|
0.00001
|
NM_015450.3(POT1):c.886A>G (p.Asn296Asp)
|
rs767877070
|
0.00001
|
NM_015450.3(POT1):c.889T>G (p.Leu297Val)
|
rs762044659
|
0.00001
|
NM_015450.3(POT1):c.898A>T (p.Asn300Tyr)
|
rs774946163
|
0.00001
|
NM_015450.3(POT1):c.913G>A (p.Val305Ile)
|
rs1444104997
|
0.00001
|
NM_015450.3(POT1):c.916A>G (p.Ile306Val)
|
rs1415345156
|
0.00001
|
NM_015450.3(POT1):c.923A>G (p.Gln308Arg)
|
rs1156231311
|
0.00001
|
NM_015450.3(POT1):c.938A>T (p.Asp313Val)
|
rs1584764879
|
0.00001
|
NC_000007.13:g.(?_124464010)_(124499172_?)dup
|
|
|
NC_000007.13:g.(?_124464016)_(124464148_?)del
|
|
|
NC_000007.13:g.(?_124464016)_(124465421_?)del
|
|
|
NC_000007.13:g.(?_124464016)_(124469416_?)del
|
|
|
NC_000007.13:g.(?_124464016)_(124511105_?)dup
|
|
|
NC_000007.13:g.(?_124464016)_(124537227_?)dup
|
|
|
NC_000007.13:g.(?_124499001)_(124537227_?)dup
|
|
|
NC_000007.13:g.(?_124532300)_(124537227_?)dup
|
|
|
NC_000007.14:g.(?_124823952)_(124871051_?)dup
|
|
|
NC_000007.14:g.(?_124823962)_(124827315_?)dup
|
|
|
NC_000007.14:g.(?_124823962)_(124859122_?)dup
|
|
|
NC_000007.14:g.(?_124835269)_(124897183_?)dup
|
|
|
NC_000007.14:g.(?_124840963)_(124842973_?)del
|
|
|
NC_000007.14:g.(?_124846932)_(124847008_?)del
|
|
|
NC_000007.14:g.(?_124863340)_(124863650_?)del
|
|
|
NC_000007.14:g.(?_124870905)_(124897179_?)del
|
|
|
NM_015450.3(POT1):c.10-3T>C
|
rs1796393484
|
|
NM_015450.3(POT1):c.1004C>T (p.Thr335Ile)
|
|
|
NM_015450.3(POT1):c.1006+3A>G
|
rs2116483768
|
|
NM_015450.3(POT1):c.1006+4A>G
|
rs1795183590
|
|
NM_015450.3(POT1):c.1006A>T (p.Ile336Leu)
|
rs1795183721
|
|
NM_015450.3(POT1):c.1007-16T>G
|
rs2116468491
|
|
NM_015450.3(POT1):c.1008A>G (p.Ile336Met)
|
rs2116468417
|
|
NM_015450.3(POT1):c.1009C>T (p.Leu337Phe)
|
rs1795066742
|
|
NM_015450.3(POT1):c.100C>A (p.Pro34Thr)
|
|
|
NM_015450.3(POT1):c.100C>G (p.Pro34Ala)
|
|
|
NM_015450.3(POT1):c.1013C>T (p.Thr338Ile)
|
rs1562981991
|
|
NM_015450.3(POT1):c.1013_1018del (p.Thr338_His340delinsAsn)
|
|
|
NM_015450.3(POT1):c.1015G>T (p.Asp339Tyr)
|
rs1795066512
|
|
NM_015450.3(POT1):c.1019A>G (p.His340Arg)
|
|
|
NM_015450.3(POT1):c.101C>G (p.Pro34Arg)
|
rs1796390766
|
|
NM_015450.3(POT1):c.101C>T (p.Pro34Leu)
|
rs1796390766
|
|
NM_015450.3(POT1):c.1021C>A (p.Gln341Lys)
|
|
|
NM_015450.3(POT1):c.1022A>C (p.Gln341Pro)
|
|
|
NM_015450.3(POT1):c.1023G>C (p.Gln341His)
|
|
|
NM_015450.3(POT1):c.1023G>T (p.Gln341His)
|
|
|
NM_015450.3(POT1):c.1025A>T (p.Tyr342Phe)
|
|
|
NM_015450.3(POT1):c.1030G>A (p.Glu344Lys)
|
rs951589289
|
|
NM_015450.3(POT1):c.1030G>C (p.Glu344Gln)
|
|
|
NM_015450.3(POT1):c.1031A>G (p.Glu344Gly)
|
rs2116468256
|
|
NM_015450.3(POT1):c.103C>G (p.Pro35Ala)
|
rs2116629585
|
|
NM_015450.3(POT1):c.1040C>T (p.Pro347Leu)
|
rs775456070
|
|
NM_015450.3(POT1):c.1042_1044del (p.Leu348del)
|
|
|
NM_015450.3(POT1):c.1046G>A (p.Cys349Tyr)
|
|
|
NM_015450.3(POT1):c.1049C>A (p.Ala350Asp)
|
|
|
NM_015450.3(POT1):c.1051A>G (p.Ile351Val)
|
rs2116468129
|
|
NM_015450.3(POT1):c.1059A>T (p.Lys353Asn)
|
|
|
NM_015450.3(POT1):c.1061A>G (p.Gln354Arg)
|
|
|
NM_015450.3(POT1):c.1064A>G (p.Lys355Arg)
|
|
|
NM_015450.3(POT1):c.1065A>T (p.Lys355Asn)
|
|
|
NM_015450.3(POT1):c.1066G>A (p.Ala356Thr)
|
|
|
NM_015450.3(POT1):c.1069C>G (p.Pro357Ala)
|
rs748578303
|
|
NM_015450.3(POT1):c.1069C>T (p.Pro357Ser)
|
|
|
NM_015450.3(POT1):c.1070C>T (p.Pro357Leu)
|
rs1795064258
|
|
NM_015450.3(POT1):c.1072C>G (p.Gln358Glu)
|
rs1562981898
|
|
NM_015450.3(POT1):c.1072CAA[1] (p.Gln359del)
|
rs1461765375
|
|
NM_015450.3(POT1):c.1076A>T (p.Gln359Leu)
|
rs755330949
|
|
NM_015450.3(POT1):c.1077A>T (p.Gln359His)
|
|
|
NM_015450.3(POT1):c.1078T>C (p.Tyr360His)
|
rs1554420630
|
|
NM_015450.3(POT1):c.107A>G (p.Tyr36Cys)
|
rs1057524691
|
|
NM_015450.3(POT1):c.107A>T (p.Tyr36Phe)
|
|
|
NM_015450.3(POT1):c.1081C>G (p.Arg361Gly)
|
rs372317646
|
|
NM_015450.3(POT1):c.1081C>T (p.Arg361Cys)
|
rs372317646
|
|
NM_015450.3(POT1):c.1082G>T (p.Arg361Leu)
|
rs778352298
|
|
NM_015450.3(POT1):c.1090G>A (p.Ala364Thr)
|
rs2116467771
|
|
NM_015450.3(POT1):c.1097T>C (p.Leu366Ser)
|
rs1554420620
|
|
NM_015450.3(POT1):c.1106A>T (p.Tyr369Phe)
|
|
|
NM_015450.3(POT1):c.1117A>G (p.Arg373Gly)
|
rs971657671
|
|
NM_015450.3(POT1):c.1119A>T (p.Arg373Ser)
|
rs2116467620
|
|
NM_015450.3(POT1):c.1123T>A (p.Phe375Ile)
|
rs1562981806
|
|
NM_015450.3(POT1):c.1124T>C (p.Phe375Ser)
|
|
|
NM_015450.3(POT1):c.1127A>C (p.Gln376Pro)
|
|
|
NM_015450.3(POT1):c.1128G>C (p.Gln376His)
|
|
|
NM_015450.3(POT1):c.1129T>G (p.Ser377Ala)
|
|
|
NM_015450.3(POT1):c.112A>C (p.Ser38Arg)
|
|
|
NM_015450.3(POT1):c.1130C>T (p.Ser377Phe)
|
|
|
NM_015450.3(POT1):c.1132G>A (p.Val378Ile)
|
|
|
NM_015450.3(POT1):c.1132G>C (p.Val378Leu)
|
rs1245805221
|
|
NM_015450.3(POT1):c.1138C>T (p.Leu380Phe)
|
|
|
NM_015450.3(POT1):c.1139T>C (p.Leu380Pro)
|
|
|
NM_015450.3(POT1):c.113G>A (p.Ser38Asn)
|
rs1796390486
|
|
NM_015450.3(POT1):c.1147C>A (p.Pro383Thr)
|
rs1243926615
|
|
NM_015450.3(POT1):c.1147C>T (p.Pro383Ser)
|
rs1243926615
|
|
NM_015450.3(POT1):c.114C>G (p.Ser38Arg)
|
rs1554434730
|
|
NM_015450.3(POT1):c.1150A>G (p.Lys384Glu)
|
rs2116467412
|
|
NM_015450.3(POT1):c.1151A>G (p.Lys384Arg)
|
|
|
NM_015450.3(POT1):c.1156C>A (p.His386Asn)
|
rs1168740597
|
|
NM_015450.3(POT1):c.1156C>G (p.His386Asp)
|
rs1168740597
|
|
NM_015450.3(POT1):c.115A>G (p.Lys39Glu)
|
|
|
NM_015450.3(POT1):c.1161G>T (p.Leu387Phe)
|
rs1584758342
|
|
NM_015450.3(POT1):c.1163+3_1163+6del
|
rs1407823530
|
|
NM_015450.3(POT1):c.1163+5G>A
|
rs1584758333
|
|
NM_015450.3(POT1):c.1163+6T>C
|
|
|
NM_015450.3(POT1):c.1164-10A>G
|
rs1554420179
|
|
NM_015450.3(POT1):c.1164-3T>G
|
|
|
NM_015450.3(POT1):c.1164-5T>A
|
|
|
NM_015450.3(POT1):c.1164-5T>C
|
|
|
NM_015450.3(POT1):c.1164G>T (p.Leu388=)
|
rs1405485811
|
|
NM_015450.3(POT1):c.1165C>G (p.Gln389Glu)
|
|
|
NM_015450.3(POT1):c.1166A>C (p.Gln389Pro)
|
|
|
NM_015450.3(POT1):c.116A>G (p.Lys39Arg)
|
rs2116629538
|
|
NM_015450.3(POT1):c.1171G>A (p.Val391Ile)
|
|
|
NM_015450.3(POT1):c.1171G>T (p.Val391Phe)
|
|
|
NM_015450.3(POT1):c.1172T>C (p.Val391Ala)
|
|
|
NM_015450.3(POT1):c.1172T>G (p.Val391Gly)
|
rs2116462193
|
|
NM_015450.3(POT1):c.1177C>T (p.His393Tyr)
|
|
|
NM_015450.3(POT1):c.1178A>C (p.His393Pro)
|
rs746416077
|
|
NM_015450.3(POT1):c.1178A>T (p.His393Leu)
|
|
|
NM_015450.3(POT1):c.1179T>G (p.His393Gln)
|
rs2116462148
|
|
NM_015450.3(POT1):c.117A>T (p.Lys39Asn)
|
|
|
NM_015450.3(POT1):c.1181A>G (p.Glu394Gly)
|
rs781625332
|
|
NM_015450.3(POT1):c.1184G>A (p.Gly395Asp)
|
rs1584757364
|
|
NM_015450.3(POT1):c.1187A>G (p.Asp396Gly)
|
rs1584757355
|
|
NM_015450.3(POT1):c.1192G>T (p.Asp398Tyr)
|
|
|
NM_015450.3(POT1):c.1193A>T (p.Asp398Val)
|
rs752802425
|
|
NM_015450.3(POT1):c.1195A>G (p.Ile399Val)
|
rs2116462060
|
|
NM_015450.3(POT1):c.1197A>G (p.Ile399Met)
|
rs1554420158
|
|
NM_015450.3(POT1):c.1198A>G (p.Ile400Val)
|
|
|
NM_015450.3(POT1):c.1199T>C (p.Ile400Thr)
|
rs1562980983
|
|
NM_015450.3(POT1):c.119G>A (p.Gly40Glu)
|
rs2116629512
|
|
NM_015450.3(POT1):c.119G>T (p.Gly40Val)
|
rs2116629512
|
|
NM_015450.3(POT1):c.11T>A (p.Val4Asp)
|
rs2116630010
|
|
NM_015450.3(POT1):c.1205A>G (p.Gln402Arg)
|
rs1646830386
|
|
NM_015450.3(POT1):c.1207G>A (p.Asp403Asn)
|
rs866261185
|
|
NM_015450.3(POT1):c.1207G>C (p.Asp403His)
|
|
|
NM_015450.3(POT1):c.1207G>T (p.Asp403Tyr)
|
|
|
NM_015450.3(POT1):c.120_124+1del
|
rs1796390112
|
|
NM_015450.3(POT1):c.1211G>A (p.Gly404Asp)
|
rs35536751
|
|
NM_015450.3(POT1):c.1213_1233dup (p.Ala405_Val411dup)
|
rs1795017954
|
|
NM_015450.3(POT1):c.1219A>G (p.Lys407Glu)
|
rs766397437
|
|
NM_015450.3(POT1):c.121A>G (p.Thr41Ala)
|
|
|
NM_015450.3(POT1):c.1221A>C (p.Lys407Asn)
|
rs2116461913
|
|
NM_015450.3(POT1):c.1223C>T (p.Thr408Ile)
|
rs2116461902
|
|
NM_015450.3(POT1):c.1228G>T (p.Asp410Tyr)
|
rs79314063
|
|
NM_015450.3(POT1):c.1229A>G (p.Asp410Gly)
|
rs1562980939
|
|
NM_015450.3(POT1):c.122C>T (p.Thr41Ile)
|
rs1563008415
|
|
NM_015450.3(POT1):c.1231G>A (p.Val411Ile)
|
rs1795018027
|
|
NM_015450.3(POT1):c.1236G>C (p.Lys412Asn)
|
|
|
NM_015450.3(POT1):c.1238T>C (p.Leu413Pro)
|
rs2116461785
|
|
NM_015450.3(POT1):c.123T>C (p.Thr41=)
|
rs1796390224
|
|
NM_015450.3(POT1):c.124+5G>T
|
rs1027069149
|
|
NM_015450.3(POT1):c.1241A>C (p.Gln414Pro)
|
|
|
NM_015450.3(POT1):c.1244A>G (p.Asn415Ser)
|
|
|
NM_015450.3(POT1):c.1247C>T (p.Thr416Ile)
|
rs1795017352
|
|
NM_015450.3(POT1):c.1249T>G (p.Ser417Ala)
|
rs1348018882
|
|
NM_015450.3(POT1):c.124G>A (p.Asp42Asn)
|
rs1358511734
|
|
NM_015450.3(POT1):c.125-19A>G
|
|
|
NM_015450.3(POT1):c.125-3C>A
|
rs1795856518
|
|
NM_015450.3(POT1):c.125-5T>C
|
|
|
NM_015450.3(POT1):c.1250C>T (p.Ser417Leu)
|
|
|
NM_015450.3(POT1):c.1253_1255del (p.Leu418del)
|
|
|
NM_015450.3(POT1):c.1255T>A (p.Tyr419Asn)
|
rs773811344
|
|
NM_015450.3(POT1):c.1258G>T (p.Asp420Tyr)
|
rs1795016740
|
|
NM_015450.3(POT1):c.1259A>T (p.Asp420Val)
|
rs1562980906
|
|
NM_015450.3(POT1):c.125A>G (p.Asp42Gly)
|
rs1562997283
|
|
NM_015450.3(POT1):c.125A>T (p.Asp42Val)
|
|
|
NM_015450.3(POT1):c.1262C>T (p.Ser421Leu)
|
rs1413163992
|
|
NM_015450.3(POT1):c.1267A>G (p.Ile423Val)
|
|
|
NM_015450.3(POT1):c.1270T>C (p.Trp424Arg)
|
rs1584757234
|
|
NM_015450.3(POT1):c.1271G>C (p.Trp424Ser)
|
|
|
NM_015450.3(POT1):c.1273A>G (p.Thr425Ala)
|
rs1173735920
|
|
NM_015450.3(POT1):c.1277C>G (p.Thr426Ser)
|
|
|
NM_015450.3(POT1):c.1280A>C (p.Lys427Thr)
|
rs1187946222
|
|
NM_015450.3(POT1):c.1282A>T (p.Asn428Tyr)
|
|
|
NM_015450.3(POT1):c.1283A>T (p.Asn428Ile)
|
|
|
NM_015450.3(POT1):c.1284T>A (p.Asn428Lys)
|
rs141341950
|
|
NM_015450.3(POT1):c.1285C>A (p.Gln429Lys)
|
rs1584757207
|
|
NM_015450.3(POT1):c.1286A>T (p.Gln429Leu)
|
rs2116461495
|
|
NM_015450.3(POT1):c.1289A>C (p.Lys430Thr)
|
rs2116461480
|
|
NM_015450.3(POT1):c.128A>G (p.Tyr43Cys)
|
rs1584777861
|
|
NM_015450.3(POT1):c.1291G>A (p.Gly431Arg)
|
|
|
NM_015450.3(POT1):c.1292G>A (p.Gly431Glu)
|
|
|
NM_015450.3(POT1):c.1299A>G (p.Lys433=)
|
|
|
NM_015450.3(POT1):c.1299A>T (p.Lys433Asn)
|
|
|
NM_015450.3(POT1):c.1300G>A (p.Val434Ile)
|
|
|
NM_015450.3(POT1):c.1300G>C (p.Val434Leu)
|
rs778955557
|
|
NM_015450.3(POT1):c.1301T>C (p.Val434Ala)
|
|
|
NM_015450.3(POT1):c.1303G>A (p.Ala435Thr)
|
rs567021227
|
|
NM_015450.3(POT1):c.1304_1306del (p.Ala435del)
|
rs1795014542
|
|
NM_015450.3(POT1):c.1309C>G (p.His437Asp)
|
|
|
NM_015450.3(POT1):c.130T>A (p.Cys44Ser)
|
rs1795856016
|
|
NM_015450.3(POT1):c.130T>G (p.Cys44Gly)
|
rs1795856016
|
|
NM_015450.3(POT1):c.1310A>G (p.His437Arg)
|
rs750331813
|
|
NM_015450.3(POT1):c.1315G>A (p.Val439Met)
|
rs547000637
|
|
NM_015450.3(POT1):c.131G>A (p.Cys44Tyr)
|
rs1260027166
|
|
NM_015450.3(POT1):c.131G>T (p.Cys44Phe)
|
rs1260027166
|
|
NM_015450.3(POT1):c.1322A>C (p.Asn441Thr)
|
rs1477300313
|
|
NM_015450.3(POT1):c.1324A>T (p.Asn442Tyr)
|
rs2116461234
|
|
NM_015450.3(POT1):c.1325A>G (p.Asn442Ser)
|
rs1195670739
|
|
NM_015450.3(POT1):c.1325A>T (p.Asn442Ile)
|
rs1195670739
|
|
NM_015450.3(POT1):c.1334T>C (p.Leu445Pro)
|
rs1795013633
|
|
NM_015450.3(POT1):c.1337C>A (p.Pro446Gln)
|
|
|
NM_015450.3(POT1):c.133T>C (p.Ser45Pro)
|
rs774755861
|
|
NM_015450.3(POT1):c.1340T>A (p.Leu447His)
|
rs1450240396
|
|
NM_015450.3(POT1):c.1345A>G (p.Asn449Asp)
|
rs763618701
|
|
NM_015450.3(POT1):c.1346A>G (p.Asn449Ser)
|
rs1584757117
|
|
NM_015450.3(POT1):c.1348G>A (p.Glu450Lys)
|
|
|
NM_015450.3(POT1):c.1351T>C (p.Cys451Arg)
|
|
|
NM_015450.3(POT1):c.1363A>T (p.Ile455Leu)
|
|
|
NM_015450.3(POT1):c.1364T>C (p.Ile455Thr)
|
|
|
NM_015450.3(POT1):c.1365A>G (p.Ile455Met)
|
|
|
NM_015450.3(POT1):c.1367A>G (p.Glu456Gly)
|
rs771226403
|
|
NM_015450.3(POT1):c.1368A>G (p.Glu456=)
|
|
|
NM_015450.3(POT1):c.1369+6A>G
|
rs1562980753
|
|
NM_015450.3(POT1):c.1369G>A (p.Gly457Arg)
|
|
|
NM_015450.3(POT1):c.136G>A (p.Val46Ile)
|
|
|
NM_015450.3(POT1):c.136G>T (p.Val46Phe)
|
rs2116567839
|
|
NM_015450.3(POT1):c.1370-3C>G
|
rs1584753403
|
|
NM_015450.3(POT1):c.1370-4A>G
|
|
|
NM_015450.3(POT1):c.1370-8_1370-6del
|
rs1158098049
|
|
NM_015450.3(POT1):c.1370-9T>C
|
|
|
NM_015450.3(POT1):c.1370G>T (p.Gly457Val)
|
|
|
NM_015450.3(POT1):c.1372G>A (p.Gly458Ser)
|
rs1794876267
|
|
NM_015450.3(POT1):c.1373G>A (p.Gly458Asp)
|
rs1562977976
|
|
NM_015450.3(POT1):c.137T>C (p.Val46Ala)
|
|
|
NM_015450.3(POT1):c.1381A>T (p.Ser461Cys)
|
rs762019631
|
|
NM_015450.3(POT1):c.1382G>A (p.Ser461Asn)
|
|
|
NM_015450.3(POT1):c.1383T>A (p.Ser461Arg)
|
|
|
NM_015450.3(POT1):c.1384G>A (p.Glu462Lys)
|
rs1794875781
|
|
NM_015450.3(POT1):c.1387A>C (p.Ile463Leu)
|
|
|
NM_015450.3(POT1):c.1393A>G (p.Lys465Glu)
|
rs1246723310
|
|
NM_015450.3(POT1):c.1394_1395delinsCT (p.Lys465Thr)
|
rs1794875251
|
|
NM_015450.3(POT1):c.1396C>G (p.Leu466Val)
|
rs958828560
|
|
NM_015450.3(POT1):c.1396C>T (p.Leu466Phe)
|
rs958828560
|
|
NM_015450.3(POT1):c.1397T>G (p.Leu466Arg)
|
|
|
NM_015450.3(POT1):c.13C>A (p.Pro5Thr)
|
rs1378378085
|
|
NM_015450.3(POT1):c.1400C>T (p.Ser467Leu)
|
rs1410842025
|
|
NM_015450.3(POT1):c.1404C>G (p.Asn468Lys)
|
rs1794874632
|
|
NM_015450.3(POT1):c.1410T>G (p.Phe470Leu)
|
|
|
NM_015450.3(POT1):c.1412A>G (p.Asn471Ser)
|
|
|
NM_015450.3(POT1):c.1414A>C (p.Ser472Arg)
|
rs769757327
|
|
NM_015450.3(POT1):c.1416T>A (p.Ser472Arg)
|
rs146643991
|
|
NM_015450.3(POT1):c.1417G>A (p.Val473Ile)
|
|
|
NM_015450.3(POT1):c.1417G>C (p.Val473Leu)
|
|
|
NM_015450.3(POT1):c.1424C>T (p.Pro475Leu)
|
rs2116444246
|
|
NM_015450.3(POT1):c.1426G>A (p.Val476Met)
|
|
|
NM_015450.3(POT1):c.142A>C (p.Thr48Pro)
|
|
|
NM_015450.3(POT1):c.142A>G (p.Thr48Ala)
|
rs1298555006
|
|
NM_015450.3(POT1):c.1430G>C (p.Arg477Thr)
|
|
|
NM_015450.3(POT1):c.1431A>T (p.Arg477Ser)
|
|
|
NM_015450.3(POT1):c.1435G>A (p.Gly479Ser)
|
|
|
NM_015450.3(POT1):c.1436G>A (p.Gly479Asp)
|
|
|
NM_015450.3(POT1):c.1436G>T (p.Gly479Val)
|
|
|
NM_015450.3(POT1):c.143C>T (p.Thr48Ile)
|
rs1002823146
|
|
NM_015450.3(POT1):c.1443A>C (p.Glu481Asp)
|
rs2116444128
|
|
NM_015450.3(POT1):c.1447C>G (p.Leu483Val)
|
|
|
NM_015450.3(POT1):c.1450G>A (p.Glu484Lys)
|
rs756511762
|
|
NM_015450.3(POT1):c.1457T>C (p.Leu486Ser)
|
|
|
NM_015450.3(POT1):c.1462C>A (p.Leu488Ile)
|
|
|
NM_015450.3(POT1):c.1465T>C (p.Ser489Pro)
|
rs2116443997
|
|
NM_015450.3(POT1):c.146T>C (p.Ile49Thr)
|
|
|
NM_015450.3(POT1):c.1474_1491del (p.Phe492_Thr497del)
|
rs1554418234
|
|
NM_015450.3(POT1):c.1480A>C (p.Ile494Leu)
|
rs1794871637
|
|
NM_015450.3(POT1):c.1481T>C (p.Ile494Thr)
|
rs774858551
|
|
NM_015450.3(POT1):c.1483C>G (p.Gln495Glu)
|
|
|
NM_015450.3(POT1):c.1486G>A (p.Gly496Arg)
|
|
|
NM_015450.3(POT1):c.1487G>A (p.Gly496Glu)
|
|
|
NM_015450.3(POT1):c.1488A>T (p.Gly496=)
|
|
|
NM_015450.3(POT1):c.1490C>T (p.Thr497Ile)
|
rs879897044
|
|
NM_015450.3(POT1):c.1494A>G (p.Ile498Met)
|
rs775892143
|
|
NM_015450.3(POT1):c.1501T>C (p.Tyr501His)
|
rs776299237
|
|
NM_015450.3(POT1):c.1502A>G (p.Tyr501Cys)
|
rs1226322093
|
|
NM_015450.3(POT1):c.1504G>A (p.Gly502Arg)
|
|
|
NM_015450.3(POT1):c.1506-5T>G
|
|
|
NM_015450.3(POT1):c.1506-8A>G
|
|
|
NM_015450.3(POT1):c.150G>A (p.Val50=)
|
rs1795855228
|
|
NM_015450.3(POT1):c.1514A>G (p.Gln505Arg)
|
rs1794705650
|
|
NM_015450.3(POT1):c.1517G>T (p.Cys506Phe)
|
|
|
NM_015450.3(POT1):c.151G>A (p.Asp51Asn)
|
rs1562997249
|
|
NM_015450.3(POT1):c.1523G>T (p.Ser508Ile)
|
rs144522387
|
|
NM_015450.3(POT1):c.1529G>A (p.Arg510Lys)
|
|
|
NM_015450.3(POT1):c.1531T>C (p.Ser511Pro)
|
rs1584749215
|
|
NM_015450.3(POT1):c.1531T>G (p.Ser511Ala)
|
|
|
NM_015450.3(POT1):c.1532C>T (p.Ser511Phe)
|
rs1554416456
|
|
NM_015450.3(POT1):c.1534A>T (p.Ile512Leu)
|
|
|
NM_015450.3(POT1):c.1535T>A (p.Ile512Lys)
|
|
|
NM_015450.3(POT1):c.1541A>T (p.Asn514Ile)
|
|
|
NM_015450.3(POT1):c.1546A>G (p.Asn516Asp)
|
rs1584749194
|
|
NM_015450.3(POT1):c.1549T>G (p.Ser517Ala)
|
|
|
NM_015450.3(POT1):c.1550C>T (p.Ser517Phe)
|
rs2116422122
|
|
NM_015450.3(POT1):c.1555G>T (p.Val519Phe)
|
rs776873207
|
|
NM_015450.3(POT1):c.155A>G (p.Gln52Arg)
|
rs1795854850
|
|
NM_015450.3(POT1):c.1560T>G (p.Asp520Glu)
|
rs2116422078
|
|
NM_015450.3(POT1):c.1564A>G (p.Thr522Ala)
|
rs2116422065
|
|
NM_015450.3(POT1):c.1568C>T (p.Ser523Leu)
|
rs139388603
|
|
NM_015450.3(POT1):c.1572G>T (p.Trp524Cys)
|
rs1794703569
|
|
NM_015450.3(POT1):c.1576C>T (p.Pro526Ser)
|
rs1794703492
|
|
NM_015450.3(POT1):c.1580C>T (p.Ser527Phe)
|
rs1562974651
|
|
NM_015450.3(POT1):c.1582T>A (p.Ser528Thr)
|
|
|
NM_015450.3(POT1):c.1583C>A (p.Ser528Tyr)
|
|
|
NM_015450.3(POT1):c.1583C>T (p.Ser528Phe)
|
|
|
NM_015450.3(POT1):c.1588G>C (p.Ala530Pro)
|
rs1180650416
|
|
NM_015450.3(POT1):c.1588G>T (p.Ala530Ser)
|
|
|
NM_015450.3(POT1):c.158C>T (p.Thr53Ile)
|
rs2116567708
|
|
NM_015450.3(POT1):c.1592_1594del (p.Glu531del)
|
rs1794702913
|
|
NM_015450.3(POT1):c.1594+3T>C
|
|
|
NM_015450.3(POT1):c.1594+4A>G
|
rs1197679328
|
|
NM_015450.3(POT1):c.1594G>A (p.Ala532Thr)
|
|
|
NM_015450.3(POT1):c.1603A>G (p.Ile535Val)
|
|
|
NM_015450.3(POT1):c.1606G>T (p.Val536Leu)
|
|
|
NM_015450.3(POT1):c.1607T>C (p.Val536Ala)
|
rs761551156
|
|
NM_015450.3(POT1):c.1608_1613del (p.Pro537_Leu538del)
|
rs1794654123
|
|
NM_015450.3(POT1):c.1609C>T (p.Pro537Ser)
|
|
|
NM_015450.3(POT1):c.160A>G (p.Asn54Asp)
|
rs1398488689
|
|
NM_015450.3(POT1):c.1610C>A (p.Pro537His)
|
rs774324805
|
|
NM_015450.3(POT1):c.1610C>T (p.Pro537Leu)
|
rs774324805
|
|
NM_015450.3(POT1):c.1612C>T (p.Leu538Phe)
|
|
|
NM_015450.3(POT1):c.1613T>G (p.Leu538Arg)
|
|
|
NM_015450.3(POT1):c.1616A>G (p.Gln539Arg)
|
rs1794653961
|
|
NM_015450.3(POT1):c.1617A>C (p.Gln539His)
|
|
|
NM_015450.3(POT1):c.1621G>A (p.Val541Met)
|
|
|
NM_015450.3(POT1):c.1624T>C (p.Phe542Leu)
|
rs1794653570
|
|
NM_015450.3(POT1):c.1631T>C (p.Met544Thr)
|
|
|
NM_015450.3(POT1):c.1632G>A (p.Met544Ile)
|
rs2116414980
|
|
NM_015450.3(POT1):c.1633A>G (p.Thr545Ala)
|
rs1794653233
|
|
NM_015450.3(POT1):c.1634C>T (p.Thr545Ile)
|
rs2116414961
|
|
NM_015450.3(POT1):c.163G>A (p.Val55Ile)
|
rs2116567668
|
|
NM_015450.3(POT1):c.1642C>G (p.Leu548Val)
|
rs2116414910
|
|
NM_015450.3(POT1):c.1643T>C (p.Leu548Pro)
|
rs1794652953
|
|
NM_015450.3(POT1):c.1646A>G (p.Asp549Gly)
|
|
|
NM_015450.3(POT1):c.1646A>T (p.Asp549Val)
|
rs2116414894
|
|
NM_015450.3(POT1):c.1646ATG[1] (p.Asp550del)
|
rs2116414852
|
|
NM_015450.3(POT1):c.1648G>A (p.Asp550Asn)
|
|
|
NM_015450.3(POT1):c.1648_1683dup (p.Asp550_Asp561dup)
|
rs1584747723
|
|
NM_015450.3(POT1):c.1649A>G (p.Asp550Gly)
|
rs1271777240
|
|
NM_015450.3(POT1):c.1649A>T (p.Asp550Val)
|
|
|
NM_015450.3(POT1):c.1650T>A (p.Asp550Glu)
|
|
|
NM_015450.3(POT1):c.1658G>A (p.Gly553Glu)
|
rs1584747757
|
|
NM_015450.3(POT1):c.1664T>C (p.Leu555Pro)
|
rs1584747751
|
|
NM_015450.3(POT1):c.166A>G (p.Lys56Glu)
|
rs2116567663
|
|
NM_015450.3(POT1):c.1672T>C (p.Tyr558His)
|
|
|
NM_015450.3(POT1):c.1673A>G (p.Tyr558Cys)
|
rs2116414736
|
|
NM_015450.3(POT1):c.1678A>C (p.Met560Leu)
|
rs1351302431
|
|
NM_015450.3(POT1):c.1678A>T (p.Met560Leu)
|
rs1351302431
|
|
NM_015450.3(POT1):c.1682A>G (p.Asp561Gly)
|
|
|
NM_015450.3(POT1):c.1685C>T (p.Ser562Phe)
|
rs1554415832
|
|
NM_015450.3(POT1):c.1686+3A>C
|
rs1794651306
|
|
NM_015450.3(POT1):c.1686+4A>G
|
rs907669138
|
|
NM_015450.3(POT1):c.1686+4_1686+7del
|
rs1584747718
|
|
NM_015450.3(POT1):c.1686+6T>G
|
rs1794651104
|
|
NM_015450.3(POT1):c.1686T>C (p.Ser562=)
|
|
|
NM_015450.3(POT1):c.1687G>T (p.Asp563Tyr)
|
|
|
NM_015450.3(POT1):c.1688A>G (p.Asp563Gly)
|
|
|
NM_015450.3(POT1):c.1689C>A (p.Asp563Glu)
|
|
|
NM_015450.3(POT1):c.1691A>G (p.Lys564Arg)
|
|
|
NM_015450.3(POT1):c.1692A>C (p.Lys564Asn)
|
|
|
NM_015450.3(POT1):c.1698C>A (p.Phe566Leu)
|
|
|
NM_015450.3(POT1):c.1701G>C (p.Gln567His)
|
rs1176534587
|
|
NM_015450.3(POT1):c.1702A>C (p.Ile568Leu)
|
rs150719673
|
|
NM_015450.3(POT1):c.1705C>A (p.Pro569Thr)
|
rs1388805721
|
|
NM_015450.3(POT1):c.1705C>T (p.Pro569Ser)
|
|
|
NM_015450.3(POT1):c.1709C>T (p.Ala570Val)
|
|
|
NM_015450.3(POT1):c.170T>C (p.Leu57Pro)
|
rs1584777819
|
|
NM_015450.3(POT1):c.1711T>G (p.Ser571Ala)
|
rs1794604371
|
|
NM_015450.3(POT1):c.1712C>T (p.Ser571Leu)
|
|
|
NM_015450.3(POT1):c.1714G>C (p.Glu572Gln)
|
rs1794604210
|
|
NM_015450.3(POT1):c.1726G>A (p.Asp576Asn)
|
rs1794603796
|
|
NM_015450.3(POT1):c.1727A>G (p.Asp576Gly)
|
|
|
NM_015450.3(POT1):c.1729G>T (p.Asp577Tyr)
|
rs764901825
|
|
NM_015450.3(POT1):c.172A>C (p.Thr58Pro)
|
|
|
NM_015450.3(POT1):c.172A>G (p.Thr58Ala)
|
|
|
NM_015450.3(POT1):c.1730A>G (p.Asp577Gly)
|
rs1794603644
|
|
NM_015450.3(POT1):c.1731T>A (p.Asp577Glu)
|
|
|
NM_015450.3(POT1):c.1732G>A (p.Asp578Asn)
|
rs886921453
|
|
NM_015450.3(POT1):c.1733A>G (p.Asp578Gly)
|
rs1794603429
|
|
NM_015450.3(POT1):c.1734C>A (p.Asp578Glu)
|
|
|
NM_015450.3(POT1):c.1734C>G (p.Asp578Glu)
|
rs1584746419
|
|
NM_015450.3(POT1):c.173C>T (p.Thr58Ile)
|
rs1795854315
|
|
NM_015450.3(POT1):c.1740G>T (p.Gln580His)
|
|
|
NM_015450.3(POT1):c.1741A>G (p.Lys581Glu)
|
rs1327511983
|
|
NM_015450.3(POT1):c.1743A>C (p.Lys581Asn)
|
rs2116407850
|
|
NM_015450.3(POT1):c.1744del (p.Ser582fs)
|
|
|
NM_015450.3(POT1):c.1745G>C (p.Ser582Thr)
|
|
|
NM_015450.3(POT1):c.1745G>T (p.Ser582Ile)
|
|
|
NM_015450.3(POT1):c.1746T>G (p.Ser582Arg)
|
rs1222395233
|
|
NM_015450.3(POT1):c.1747G>A (p.Val583Met)
|
|
|
NM_015450.3(POT1):c.1750G>A (p.Asp584Asn)
|
rs1794602770
|
|
NM_015450.3(POT1):c.1751A>C (p.Asp584Ala)
|
|
|
NM_015450.3(POT1):c.1751A>G (p.Asp584Gly)
|
rs2116407804
|
|
NM_015450.3(POT1):c.1753A>G (p.Met585Val)
|
rs1794602691
|
|
NM_015450.3(POT1):c.1755G>A (p.Met585Ile)
|
|
|
NM_015450.3(POT1):c.1755G>T (p.Met585Ile)
|
rs1794602607
|
|
NM_015450.3(POT1):c.1756A>G (p.Ile586Val)
|
rs1554415137
|
|
NM_015450.3(POT1):c.1756A>T (p.Ile586Phe)
|
rs1554415137
|
|
NM_015450.3(POT1):c.1757T>C (p.Ile586Thr)
|
rs1794602477
|
|
NM_015450.3(POT1):c.175T>C (p.Cys59Arg)
|
|
|
NM_015450.3(POT1):c.1760T>C (p.Met587Thr)
|
rs1794602336
|
|
NM_015450.3(POT1):c.1763A>G (p.Asp588Gly)
|
rs2116407741
|
|
NM_015450.3(POT1):c.1765A>G (p.Met589Val)
|
rs1794602270
|
|
NM_015450.3(POT1):c.1765_1766del (p.Met589fs)
|
rs771968149
|
|
NM_015450.3(POT1):c.1766T>C (p.Met589Thr)
|
rs1375637075
|
|
NM_015450.3(POT1):c.176G>A (p.Cys59Tyr)
|
rs763187597
|
|
NM_015450.3(POT1):c.176G>T (p.Cys59Phe)
|
rs763187597
|
|
NM_015450.3(POT1):c.1772G>A (p.Cys591Tyr)
|
|
|
NM_015450.3(POT1):c.1772G>T (p.Cys591Phe)
|
rs1794601957
|
|
NM_015450.3(POT1):c.1774C>T (p.Pro592Ser)
|
|
|
NM_015450.3(POT1):c.1775C>T (p.Pro592Leu)
|
rs1436064065
|
|
NM_015450.3(POT1):c.1777C>A (p.Pro593Thr)
|
rs1794601828
|
|
NM_015450.3(POT1):c.1777C>T (p.Pro593Ser)
|
|
|
NM_015450.3(POT1):c.1778C>T (p.Pro593Leu)
|
rs2116407652
|
|
NM_015450.3(POT1):c.1781G>A (p.Gly594Glu)
|
rs1794601658
|
|
NM_015450.3(POT1):c.1781_1782del (p.Gly594fs)
|
rs1562972380
|
|
NM_015450.3(POT1):c.1785A>G (p.Ile595Met)
|
rs1794601418
|
|
NM_015450.3(POT1):c.1792+1G>A
|
rs1562972354
|
|
NM_015450.3(POT1):c.1792G>A (p.Asp598Asn)
|
|
|
NM_015450.3(POT1):c.1792G>C (p.Asp598His)
|
|
|
NM_015450.3(POT1):c.1793-2A>G
|
|
|
NM_015450.3(POT1):c.1793-3T>G
|
rs2116403760
|
|
NM_015450.3(POT1):c.1793A>G (p.Asp598Gly)
|
rs1794572863
|
|
NM_015450.3(POT1):c.1793A>T (p.Asp598Val)
|
rs1794572863
|
|
NM_015450.3(POT1):c.1794del (p.Asp598fs)
|
rs2116403736
|
|
NM_015450.3(POT1):c.1795G>T (p.Ala599Ser)
|
|
|
NM_015450.3(POT1):c.1796C>T (p.Ala599Val)
|
|
|
NM_015450.3(POT1):c.1799A>G (p.Tyr600Cys)
|
|
|
NM_015450.3(POT1):c.17C>A (p.Ala6Glu)
|
|
|
NM_015450.3(POT1):c.1801C>A (p.Pro601Thr)
|
rs1584745610
|
|
NM_015450.3(POT1):c.1802C>T (p.Pro601Leu)
|
rs779050803
|
|
NM_015450.3(POT1):c.1805G>A (p.Trp602Ter)
|
rs996577534
|
|
NM_015450.3(POT1):c.1805G>T (p.Trp602Leu)
|
rs996577534
|
|
NM_015450.3(POT1):c.1807T>A (p.Leu603Met)
|
|
|
NM_015450.3(POT1):c.1817T>C (p.Phe606Ser)
|
rs1562971847
|
|
NM_015450.3(POT1):c.1819A>G (p.Ile607Val)
|
rs1554414706
|
|
NM_015450.3(POT1):c.181C>T (p.Leu61Phe)
|
rs1795853989
|
|
NM_015450.3(POT1):c.1823A>C (p.Lys608Thr)
|
|
|
NM_015450.3(POT1):c.1828T>C (p.Tyr610His)
|
rs1327415212
|
|
NM_015450.3(POT1):c.1828T>G (p.Tyr610Asp)
|
|
|
NM_015450.3(POT1):c.1829A>G (p.Tyr610Cys)
|
rs1363813360
|
|
NM_015450.3(POT1):c.182T>C (p.Leu61Pro)
|
rs1795853859
|
|
NM_015450.3(POT1):c.1830del (p.Ser609_Tyr610insTer)
|
|
|
NM_015450.3(POT1):c.1831A>G (p.Asn611Asp)
|
rs1794570957
|
|
NM_015450.3(POT1):c.1834G>A (p.Val612Ile)
|
rs1554414690
|
|
NM_015450.3(POT1):c.1834G>C (p.Val612Leu)
|
rs1554414690
|
|
NM_015450.3(POT1):c.1844G>C (p.Gly615Ala)
|
rs1794570589
|
|
NM_015450.3(POT1):c.1847C>G (p.Thr616Arg)
|
|
|
NM_015450.3(POT1):c.1850A>C (p.Asp617Ala)
|
rs907969253
|
|
NM_015450.3(POT1):c.1850A>T (p.Asp617Val)
|
rs907969253
|
|
NM_015450.3(POT1):c.1851T>A (p.Asp617Glu)
|
rs142059197
|
|
NM_015450.3(POT1):c.1851_1852del (p.Asp617fs)
|
rs758673417
|
|
NM_015450.3(POT1):c.1858_1860del (p.Ile620del)
|
rs1193436506
|
|
NM_015450.3(POT1):c.1862G>T (p.Cys621Phe)
|
rs2116403364
|
|
NM_015450.3(POT1):c.1865A>C (p.Tyr622Ser)
|
rs760062934
|
|
NM_015450.3(POT1):c.1871T>C (p.Ile624Thr)
|
rs1554414645
|
|
NM_015450.3(POT1):c.1872T>G (p.Ile624Met)
|
rs1794569508
|
|
NM_015450.3(POT1):c.1875T>G (p.Phe625Leu)
|
|
|
NM_015450.3(POT1):c.1875_1877delinsGG (p.Phe625fs)
|
|
|
NM_015450.3(POT1):c.1878C>G (p.Asp626Glu)
|
|
|
NM_015450.3(POT1):c.1880C>A (p.Thr627Asn)
|
rs1584745502
|
|
NM_015450.3(POT1):c.1880C>T (p.Thr627Ile)
|
|
|
NM_015450.3(POT1):c.1882A>G (p.Thr628Ala)
|
rs1260196051
|
|
NM_015450.3(POT1):c.1883C>T (p.Thr628Ile)
|
|
|
NM_015450.3(POT1):c.1885G>C (p.Val629Leu)
|
rs747028178
|
|
NM_015450.3(POT1):c.1889C>G (p.Ala630Gly)
|
|
|
NM_015450.3(POT1):c.188G>C (p.Ser63Thr)
|
rs1584777788
|
|
NM_015450.3(POT1):c.188G>T (p.Ser63Ile)
|
rs1584777788
|
|
NM_015450.3(POT1):c.1891G>A (p.Glu631Lys)
|
rs1584745486
|
|
NM_015450.3(POT1):c.1891G>C (p.Glu631Gln)
|
|
|
NM_015450.3(POT1):c.1895A>T (p.Asp632Val)
|
|
|
NM_015450.3(POT1):c.1896T>G (p.Asp632Glu)
|
rs2116403163
|
|
NM_015450.3(POT1):c.1901T>C (p.Ile634Thr)
|
rs2116403131
|
|
NM_015450.3(POT1):c.1902C>G (p.Ile634Met)
|
|
|
NM_015450.3(POT1):c.191G>A (p.Gly64Glu)
|
|
|
NM_015450.3(POT1):c.205C>T (p.Leu69Phe)
|
rs905571705
|
|
NM_015450.3(POT1):c.208C>G (p.Pro70Ala)
|
|
|
NM_015450.3(POT1):c.208C>T (p.Pro70Ser)
|
|
|
NM_015450.3(POT1):c.20C>A (p.Thr7Lys)
|
|
|
NM_015450.3(POT1):c.212_213delinsCC (p.Ile71Thr)
|
|
|
NM_015450.3(POT1):c.217T>C (p.Tyr73His)
|
|
|
NM_015450.3(POT1):c.220A>G (p.Lys74Glu)
|
|
|
NM_015450.3(POT1):c.223A>C (p.Asn75His)
|
|
|
NM_015450.3(POT1):c.229G>C (p.Asp77His)
|
|
|
NM_015450.3(POT1):c.229G>T (p.Asp77Tyr)
|
rs1795852296
|
|
NM_015450.3(POT1):c.22A>T (p.Asn8Tyr)
|
rs1454480268
|
|
NM_015450.3(POT1):c.230A>G (p.Asp77Gly)
|
rs1795852217
|
|
NM_015450.3(POT1):c.239G>T (p.Arg80Leu)
|
|
|
NM_015450.3(POT1):c.255+3A>G
|
rs2116567176
|
|
NM_015450.3(POT1):c.255+5A>G
|
rs1584777694
|
|
NM_015450.3(POT1):c.255+6A>G
|
|
|
NM_015450.3(POT1):c.259C>G (p.Gln87Glu)
|
rs1378521195
|
|
NM_015450.3(POT1):c.265T>A (p.Tyr89Asn)
|
rs1131691746
|
|
NM_015450.3(POT1):c.266A>G (p.Tyr89Cys)
|
rs587777472
|
|
NM_015450.3(POT1):c.26A>T (p.Tyr9Phe)
|
rs2116629933
|
|
NM_015450.3(POT1):c.270A>C (p.Lys90Asn)
|
|
|
NM_015450.3(POT1):c.272A>C (p.Lys91Thr)
|
rs1283293522
|
|
NM_015450.3(POT1):c.272A>G (p.Lys91Arg)
|
|
|
NM_015450.3(POT1):c.274_276del (p.Glu92del)
|
rs1795652851
|
|
NM_015450.3(POT1):c.277A>G (p.Thr93Ala)
|
|
|
NM_015450.3(POT1):c.278C>T (p.Thr93Ile)
|
rs2116542690
|
|
NM_015450.3(POT1):c.281A>G (p.Gln94Arg)
|
rs1795652696
|
|
NM_015450.3(POT1):c.282G>C (p.Gln94His)
|
rs948259490
|
|
NM_015450.3(POT1):c.283G>T (p.Gly95Cys)
|
rs797045168
|
|
NM_015450.3(POT1):c.28A>C (p.Ile10Leu)
|
rs1584792042
|
|
NM_015450.3(POT1):c.28A>G (p.Ile10Val)
|
|
|
NM_015450.3(POT1):c.290C>T (p.Thr97Ile)
|
rs1436205180
|
|
NM_015450.3(POT1):c.292A>C (p.Ser98Arg)
|
rs2116542562
|
|
NM_015450.3(POT1):c.292A>G (p.Ser98Gly)
|
|
|
NM_015450.3(POT1):c.295T>C (p.Ser99Pro)
|
|
|
NM_015450.3(POT1):c.299G>C (p.Gly100Ala)
|
|
|
NM_015450.3(POT1):c.308C>T (p.Ser103Phe)
|
rs2116542498
|
|
NM_015450.3(POT1):c.313A>G (p.Thr105Ala)
|
rs1795651629
|
|
NM_015450.3(POT1):c.314C>T (p.Thr105Met)
|
rs1554426994
|
|
NM_015450.3(POT1):c.317T>G (p.Phe106Cys)
|
rs2116542450
|
|
NM_015450.3(POT1):c.318T>G (p.Phe106Leu)
|
|
|
NM_015450.3(POT1):c.323G>A (p.Gly108Glu)
|
rs1290433563
|
|
NM_015450.3(POT1):c.32A>G (p.Tyr11Cys)
|
|
|
NM_015450.3(POT1):c.330G>C (p.Leu110Phe)
|
|
|
NM_015450.3(POT1):c.331G>A (p.Gly111Arg)
|
rs1554426987
|
|
NM_015450.3(POT1):c.338C>G (p.Pro113Arg)
|
|
|
NM_015450.3(POT1):c.338C>T (p.Pro113Leu)
|
rs1554426986
|
|
NM_015450.3(POT1):c.340A>C (p.Ile114Leu)
|
rs146552802
|
|
NM_015450.3(POT1):c.341T>A (p.Ile114Asn)
|
|
|
NM_015450.3(POT1):c.346C>T (p.Pro116Ser)
|
rs1795650286
|
|
NM_015450.3(POT1):c.347C>T (p.Pro116Leu)
|
rs1554426966
|
|
NM_015450.3(POT1):c.349C>A (p.Arg117Ser)
|
|
|
NM_015450.3(POT1):c.349C>G (p.Arg117Gly)
|
|
|
NM_015450.3(POT1):c.350G>A (p.Arg117His)
|
rs1385542313
|
|
NM_015450.3(POT1):c.350G>T (p.Arg117Leu)
|
rs1385542313
|
|
NM_015450.3(POT1):c.352A>G (p.Thr118Ala)
|
|
|
NM_015450.3(POT1):c.353C>T (p.Thr118Ile)
|
|
|
NM_015450.3(POT1):c.358A>G (p.Ser120Gly)
|
|
|
NM_015450.3(POT1):c.359G>C (p.Ser120Thr)
|
|
|
NM_015450.3(POT1):c.363G>C (p.Lys121Asn)
|
rs1473942617
|
|
NM_015450.3(POT1):c.365A>G (p.Tyr122Cys)
|
rs1562993384
|
|
NM_015450.3(POT1):c.376A>G (p.Thr126Ala)
|
|
|
NM_015450.3(POT1):c.385G>A (p.Asp129Asn)
|
rs1795649242
|
|
NM_015450.3(POT1):c.386A>G (p.Asp129Gly)
|
rs2116542079
|
|
NM_015450.3(POT1):c.386A>T (p.Asp129Val)
|
|
|
NM_015450.3(POT1):c.38C>A (p.Pro13His)
|
|
|
NM_015450.3(POT1):c.396G>A (p.Met132Ile)
|
rs2116542026
|
|
NM_015450.3(POT1):c.398T>G (p.Val133Gly)
|
|
|
NM_015450.3(POT1):c.3G>T (p.Met1Ile)
|
|
|
NM_015450.3(POT1):c.406T>G (p.Leu136Val)
|
|
|
NM_015450.3(POT1):c.410G>A (p.Arg137His)
|
rs587777475
|
|
NM_015450.3(POT1):c.410G>T (p.Arg137Leu)
|
|
|
NM_015450.3(POT1):c.418G>A (p.Ala140Thr)
|
rs1554426928
|
|
NM_015450.3(POT1):c.424A>T (p.Thr142Ser)
|
rs1795648162
|
|
NM_015450.3(POT1):c.425C>T (p.Thr142Ile)
|
rs1554426922
|
|
NM_015450.3(POT1):c.428A>G (p.His143Arg)
|
|
|
NM_015450.3(POT1):c.431T>C (p.Met144Thr)
|
rs1795647984
|
|
NM_015450.3(POT1):c.432G>A (p.Met144Ile)
|
|
|
NM_015450.3(POT1):c.437C>A (p.Pro146Gln)
|
|
|
NM_015450.3(POT1):c.437C>G (p.Pro146Arg)
|
|
|
NM_015450.3(POT1):c.437C>T (p.Pro146Leu)
|
rs1554426915
|
|
NM_015450.3(POT1):c.451C>G (p.Leu151Val)
|
|
|
NM_015450.3(POT1):c.452T>G (p.Leu151Arg)
|
rs1795647226
|
|
NM_015450.3(POT1):c.463G>A (p.Asp155Asn)
|
rs1562993312
|
|
NM_015450.3(POT1):c.463G>C (p.Asp155His)
|
|
|
NM_015450.3(POT1):c.464A>G (p.Asp155Gly)
|
rs1584772950
|
|
NM_015450.3(POT1):c.465T>A (p.Asp155Glu)
|
|
|
NM_015450.3(POT1):c.466G>A (p.Val156Ile)
|
rs1795646926
|
|
NM_015450.3(POT1):c.466G>C (p.Val156Leu)
|
|
|
NM_015450.3(POT1):c.467T>C (p.Val156Ala)
|
rs2116541631
|
|
NM_015450.3(POT1):c.46C>A (p.Gln16Lys)
|
|
|
NM_015450.3(POT1):c.471G>C (p.Gln157His)
|
rs1795646837
|
|
NM_015450.3(POT1):c.472C>A (p.Pro158Thr)
|
|
|
NM_015450.3(POT1):c.475A>C (p.Met159Leu)
|
rs1449504013
|
|
NM_015450.3(POT1):c.476T>C (p.Met159Thr)
|
|
|
NM_015450.3(POT1):c.479A>G (p.Gln160Arg)
|
rs1584772936
|
|
NM_015450.3(POT1):c.481T>C (p.Tyr161His)
|
rs1795646570
|
|
NM_015450.3(POT1):c.488A>T (p.Asp163Val)
|
|
|
NM_015450.3(POT1):c.494C>A (p.Thr165Asn)
|
|
|
NM_015450.3(POT1):c.506T>C (p.Leu169Ser)
|
|
|
NM_015450.3(POT1):c.508G>A (p.Gly170Ser)
|
rs1584772921
|
|
NM_015450.3(POT1):c.515C>T (p.Ala172Val)
|
|
|
NM_015450.3(POT1):c.521T>G (p.Val174Gly)
|
rs2116541364
|
|
NM_015450.3(POT1):c.525_526insCCA (p.Asp175_Gly176insPro)
|
|
|
NM_015450.3(POT1):c.527G>C (p.Gly176Ala)
|
|
|
NM_015450.3(POT1):c.529G>A (p.Ala177Thr)
|
rs1795645494
|
|
NM_015450.3(POT1):c.533C>T (p.Ser178Leu)
|
rs1584772907
|
|
NM_015450.3(POT1):c.53A>G (p.Lys18Arg)
|
rs1584792012
|
|
NM_015450.3(POT1):c.546+3A>G
|
|
|
NM_015450.3(POT1):c.546+4C>A
|
rs1795644961
|
|
NM_015450.3(POT1):c.546+4C>G
|
rs1795644961
|
|
NM_015450.3(POT1):c.546+6T>G
|
|
|
NM_015450.3(POT1):c.546G>C (p.Lys182Asn)
|
|
|
NM_015450.3(POT1):c.547-10C>G
|
rs1413025095
|
|
NM_015450.3(POT1):c.547-13T>G
|
|
|
NM_015450.3(POT1):c.547-14C>G
|
|
|
NM_015450.3(POT1):c.547-3C>T
|
rs770890978
|
|
NM_015450.3(POT1):c.548T>C (p.Val183Ala)
|
|
|
NM_015450.3(POT1):c.54G>T (p.Lys18Asn)
|
|
|
NM_015450.3(POT1):c.550T>C (p.Trp184Arg)
|
rs2116526752
|
|
NM_015450.3(POT1):c.551G>C (p.Trp184Ser)
|
|
|
NM_015450.3(POT1):c.552G>C (p.Trp184Cys)
|
|
|
NM_015450.3(POT1):c.554A>T (p.Asp185Val)
|
|
|
NM_015450.3(POT1):c.554_555delinsCA (p.Asp185Ala)
|
rs1584769974
|
|
NM_015450.3(POT1):c.556G>A (p.Gly186Ser)
|
|
|
NM_015450.3(POT1):c.557G>C (p.Gly186Ala)
|
|
|
NM_015450.3(POT1):c.557G>T (p.Gly186Val)
|
|
|
NM_015450.3(POT1):c.559A>G (p.Thr187Ala)
|
rs1562990976
|
|
NM_015450.3(POT1):c.55G>A (p.Gly19Ser)
|
|
|
NM_015450.3(POT1):c.560C>G (p.Thr187Ser)
|
rs1562990972
|
|
NM_015450.3(POT1):c.562A>G (p.Arg188Gly)
|
|
|
NM_015450.3(POT1):c.566C>T (p.Thr189Ile)
|
rs1795518878
|
|
NM_015450.3(POT1):c.56G>A (p.Gly19Asp)
|
|
|
NM_015450.3(POT1):c.56G>T (p.Gly19Val)
|
|
|
NM_015450.3(POT1):c.571T>C (p.Phe191Leu)
|
|
|
NM_015450.3(POT1):c.574C>G (p.Pro192Ala)
|
|
|
NM_015450.3(POT1):c.577T>C (p.Ser193Pro)
|
rs752854457
|
|
NM_015450.3(POT1):c.582G>C (p.Trp194Cys)
|
rs2116526346
|
|
NM_015450.3(POT1):c.585A>G (p.Arg195=)
|
|
|
NM_015450.3(POT1):c.587T>C (p.Val196Ala)
|
rs2116526306
|
|
NM_015450.3(POT1):c.58G>C (p.Gly20Arg)
|
|
|
NM_015450.3(POT1):c.58G>T (p.Gly20Cys)
|
rs1796391890
|
|
NM_015450.3(POT1):c.591A>C (p.Leu197Phe)
|
rs1795518187
|
|
NM_015450.3(POT1):c.592A>C (p.Ile198Leu)
|
rs1554425771
|
|
NM_015450.3(POT1):c.596A>G (p.Gln199Arg)
|
|
|
NM_015450.3(POT1):c.598G>A (p.Asp200Asn)
|
rs764943552
|
|
NM_015450.3(POT1):c.598_606dup (p.Asp200_Val202dup)
|
rs1554425767
|
|
NM_015450.3(POT1):c.59G>A (p.Gly20Asp)
|
|
|
NM_015450.3(POT1):c.5C>T (p.Ser2Phe)
|
|
|
NM_015450.3(POT1):c.600C>A (p.Asp200Glu)
|
|
|
NM_015450.3(POT1):c.601C>G (p.Leu201Val)
|
rs2116526207
|
|
NM_015450.3(POT1):c.605T>C (p.Val202Ala)
|
|
|
NM_015450.3(POT1):c.607C>A (p.Leu203Ile)
|
|
|
NM_015450.3(POT1):c.608T>G (p.Leu203Arg)
|
rs1562990940
|
|
NM_015450.3(POT1):c.610G>A (p.Glu204Lys)
|
|
|
NM_015450.3(POT1):c.613G>A (p.Gly205Ser)
|
rs2116526101
|
|
NM_015450.3(POT1):c.616G>T (p.Asp206Tyr)
|
rs1369381243
|
|
NM_015450.3(POT1):c.617A>G (p.Asp206Gly)
|
rs1562990934
|
|
NM_015450.3(POT1):c.619T>A (p.Leu207Ile)
|
|
|
NM_015450.3(POT1):c.619T>G (p.Leu207Val)
|
rs1410922436
|
|
NM_015450.3(POT1):c.61A>G (p.Thr21Ala)
|
|
|
NM_015450.3(POT1):c.628A>G (p.Ile210Val)
|
|
|
NM_015450.3(POT1):c.629T>A (p.Ile210Asn)
|
rs1795517138
|
|
NM_015450.3(POT1):c.62C>T (p.Thr21Ile)
|
|
|
NM_015450.3(POT1):c.632A>G (p.His211Arg)
|
|
|
NM_015450.3(POT1):c.634C>A (p.Arg212=)
|
|
|
NM_015450.3(POT1):c.634C>T (p.Arg212Trp)
|
rs1444551164
|
|
NM_015450.3(POT1):c.641A>G (p.Gln214Arg)
|
rs2116525724
|
|
NM_015450.3(POT1):c.644A>C (p.Asn215Thr)
|
rs1795516349
|
|
NM_015450.3(POT1):c.645T>A (p.Asn215Lys)
|
|
|
NM_015450.3(POT1):c.649A>G (p.Thr217Ala)
|
rs1795516265
|
|
NM_015450.3(POT1):c.652A>C (p.Ile218Leu)
|
rs1795515981
|
|
NM_015450.3(POT1):c.652A>G (p.Ile218Val)
|
rs1795515981
|
|
NM_015450.3(POT1):c.655G>T (p.Asp219Tyr)
|
|
|
NM_015450.3(POT1):c.658A>T (p.Ile220Phe)
|
rs2116525545
|
|
NM_015450.3(POT1):c.665T>A (p.Val222Asp)
|
|
|
NM_015450.3(POT1):c.667T>C (p.Tyr223His)
|
|
|
NM_015450.3(POT1):c.668A>G (p.Tyr223Cys)
|
rs1795515617
|
|
NM_015450.3(POT1):c.672_674dup (p.Asn225dup)
|
rs1795515373
|
|
NM_015450.3(POT1):c.674A>G (p.Asn225Ser)
|
|
|
NM_015450.3(POT1):c.675C>A (p.Asn225Lys)
|
rs1050055964
|
|
NM_015450.3(POT1):c.676C>A (p.His226Asn)
|
rs1225635203
|
|
NM_015450.3(POT1):c.676C>T (p.His226Tyr)
|
|
|
NM_015450.3(POT1):c.682C>T (p.His228Tyr)
|
rs1795515109
|
|
NM_015450.3(POT1):c.683A>C (p.His228Pro)
|
|
|
NM_015450.3(POT1):c.683A>G (p.His228Arg)
|
rs1584769814
|
|
NM_015450.3(POT1):c.686T>C (p.Val229Ala)
|
rs1795514833
|
|
NM_015450.3(POT1):c.688G>T (p.Ala230Ser)
|
rs1315178609
|
|
NM_015450.3(POT1):c.68T>C (p.Val23Ala)
|
|
|
NM_015450.3(POT1):c.692G>A (p.Arg231Lys)
|
|
|
NM_015450.3(POT1):c.693A>T (p.Arg231Ser)
|
rs1795514618
|
|
NM_015450.3(POT1):c.695C>A (p.Ser232Tyr)
|
|
|
NM_015450.3(POT1):c.700A>G (p.Lys234Glu)
|
rs1795514285
|
|
NM_015450.3(POT1):c.702+10A>G
|
|
|
NM_015450.3(POT1):c.702+4A>G
|
rs1795514122
|
|
NM_015450.3(POT1):c.702+5T>C
|
rs1370505940
|
|
NM_015450.3(POT1):c.702+6G>A
|
rs1795513966
|
|
NM_015450.3(POT1):c.702+8A>G
|
|
|
NM_015450.3(POT1):c.703-1218C>T
|
|
|
NM_015450.3(POT1):c.703-3T>G
|
rs1584765787
|
|
NM_015450.3(POT1):c.703G>T (p.Val235Phe)
|
|
|
NM_015450.3(POT1):c.706G>A (p.Gly236Arg)
|
|
|
NM_015450.3(POT1):c.709A>C (p.Ser237Arg)
|
rs1554424059
|
|
NM_015450.3(POT1):c.711_712delinsAC (p.Ser237_Phe238delinsArgLeu)
|
rs1795355784
|
|
NM_015450.3(POT1):c.712T>C (p.Phe238Leu)
|
rs1795355725
|
|
NM_015450.3(POT1):c.716T>G (p.Leu239Arg)
|
rs1554424050
|
|
NM_015450.3(POT1):c.719G>A (p.Arg240Lys)
|
|
|
NM_015450.3(POT1):c.721A>C (p.Ile241Leu)
|
|
|
NM_015450.3(POT1):c.721A>G (p.Ile241Val)
|
|
|
NM_015450.3(POT1):c.72T>A (p.Asn24Lys)
|
rs774667836
|
|
NM_015450.3(POT1):c.730C>T (p.Leu244Phe)
|
|
|
NM_015450.3(POT1):c.737C>G (p.Thr246Ser)
|
|
|
NM_015450.3(POT1):c.740A>G (p.Lys247Arg)
|
rs1795354672
|
|
NM_015450.3(POT1):c.747A>C (p.Gln249His)
|
rs35361862
|
|
NM_015450.3(POT1):c.753G>C (p.Met251Ile)
|
rs1172142052
|
|
NM_015450.3(POT1):c.755A>C (p.Asn252Thr)
|
rs1584765721
|
|
NM_015450.3(POT1):c.755A>G (p.Asn252Ser)
|
|
|
NM_015450.3(POT1):c.759A>C (p.Ser253=)
|
|
|
NM_015450.3(POT1):c.759A>G (p.Ser253=)
|
|
|
NM_015450.3(POT1):c.76T>C (p.Tyr26His)
|
rs2116629689
|
|
NM_015450.3(POT1):c.772A>T (p.Met258Leu)
|
|
|
NM_015450.3(POT1):c.773T>C (p.Met258Thr)
|
rs1584765693
|
|
NM_015450.3(POT1):c.779G>A (p.Ser260Asn)
|
rs1323715274
|
|
NM_015450.3(POT1):c.785A>G (p.Glu262Gly)
|
|
|
NM_015450.3(POT1):c.788T>C (p.Phe263Ser)
|
rs2116504855
|
|
NM_015450.3(POT1):c.790C>G (p.His264Asp)
|
|
|
NM_015450.3(POT1):c.790C>T (p.His264Tyr)
|
rs1795352779
|
|
NM_015450.3(POT1):c.796C>G (p.His266Asp)
|
rs2116504827
|
|
NM_015450.3(POT1):c.796C>T (p.His266Tyr)
|
|
|
NM_015450.3(POT1):c.796_798del (p.His266del)
|
|
|
NM_015450.3(POT1):c.797A>C (p.His266Pro)
|
|
|
NM_015450.3(POT1):c.797A>G (p.His266Arg)
|
rs1584765678
|
|
NM_015450.3(POT1):c.797A>T (p.His266Leu)
|
rs1584765678
|
|
NM_015450.3(POT1):c.798T>A (p.His266Gln)
|
rs1554424006
|
|
NM_015450.3(POT1):c.79G>C (p.Gly27Arg)
|
rs1584791977
|
|
NM_015450.3(POT1):c.79G>T (p.Gly27Cys)
|
|
|
NM_015450.3(POT1):c.800G>A (p.Gly267Glu)
|
rs2116504781
|
|
NM_015450.3(POT1):c.802G>A (p.Gly268Ser)
|
|
|
NM_015450.3(POT1):c.803G>C (p.Gly268Ala)
|
|
|
NM_015450.3(POT1):c.803G>T (p.Gly268Val)
|
|
|
NM_015450.3(POT1):c.805A>G (p.Thr269Ala)
|
|
|
NM_015450.3(POT1):c.806C>G (p.Thr269Ser)
|
|
|
NM_015450.3(POT1):c.806C>T (p.Thr269Ile)
|
rs932030885
|
|
NM_015450.3(POT1):c.809G>C (p.Ser270Thr)
|
|
|
NM_015450.3(POT1):c.810T>A (p.Ser270Arg)
|
|
|
NM_015450.3(POT1):c.814G>T (p.Gly272Cys)
|
rs781279819
|
|
NM_015450.3(POT1):c.815G>A (p.Gly272Asp)
|
|
|
NM_015450.3(POT1):c.815G>T (p.Gly272Val)
|
rs1795351848
|
|
NM_015450.3(POT1):c.817C>G (p.Arg273Gly)
|
rs1554423983
|
|
NM_015450.3(POT1):c.817C>T (p.Arg273Trp)
|
rs1554423983
|
|
NM_015450.3(POT1):c.819G>A (p.Arg273=)
|
|
|
NM_015450.3(POT1):c.820G>A (p.Gly274Arg)
|
rs1296966928
|
|
NM_015450.3(POT1):c.821G>A (p.Gly274Glu)
|
|
|
NM_015450.3(POT1):c.821G>T (p.Gly274Val)
|
rs1450862341
|
|
NM_015450.3(POT1):c.823A>G (p.Ile275Val)
|
rs1584765612
|
|
NM_015450.3(POT1):c.826A>G (p.Arg276Gly)
|
rs2116504536
|
|
NM_015450.3(POT1):c.827G>A (p.Arg276Lys)
|
|
|
NM_015450.3(POT1):c.828G>T (p.Arg276Ser)
|
rs76496261
|
|
NM_015450.3(POT1):c.829G>A (p.Val277Ile)
|
|
|
NM_015450.3(POT1):c.834G>T (p.Leu278Phe)
|
rs754958636
|
|
NM_015450.3(POT1):c.835C>G (p.Pro279Ala)
|
|
|
NM_015450.3(POT1):c.836C>T (p.Pro279Leu)
|
rs2116504451
|
|
NM_015450.3(POT1):c.839A>G (p.Glu280Gly)
|
rs1562987653
|
|
NM_015450.3(POT1):c.842G>A (p.Ser281Asn)
|
rs1795350489
|
|
NM_015450.3(POT1):c.846C>G (p.Asn282Lys)
|
rs142704514
|
|
NM_015450.3(POT1):c.847T>C (p.Ser283Pro)
|
rs1584765580
|
|
NM_015450.3(POT1):c.847T>G (p.Ser283Ala)
|
rs1584765580
|
|
NM_015450.3(POT1):c.848C>A (p.Ser283Tyr)
|
|
|
NM_015450.3(POT1):c.850G>A (p.Asp284Asn)
|
|
|
NM_015450.3(POT1):c.851A>G (p.Asp284Gly)
|
|
|
NM_015450.3(POT1):c.851A>T (p.Asp284Val)
|
|
|
NM_015450.3(POT1):c.853G>C (p.Val285Leu)
|
|
|
NM_015450.3(POT1):c.856G>A (p.Asp286Asn)
|
rs1460322063
|
|
NM_015450.3(POT1):c.861A>T (p.Gln287His)
|
|
|
NM_015450.3(POT1):c.863T>G (p.Leu288Arg)
|
|
|
NM_015450.3(POT1):c.869+4A>T
|
rs2116504239
|
|
NM_015450.3(POT1):c.869+6C>A
|
|
|
NM_015450.3(POT1):c.869+6C>G
|
|
|
NM_015450.3(POT1):c.869A>T (p.Lys290Met)
|
rs1795349533
|
|
NM_015450.3(POT1):c.870-3T>G
|
|
|
NM_015450.3(POT1):c.870-57_882dup
|
|
|
NM_015450.3(POT1):c.870-7A>G
|
rs372566252
|
|
NM_015450.3(POT1):c.870G>C (p.Lys290Asn)
|
|
|
NM_015450.3(POT1):c.877G>A (p.Glu293Lys)
|
|
|
NM_015450.3(POT1):c.878A>T (p.Glu293Val)
|
|
|
NM_015450.3(POT1):c.883G>C (p.Ala295Pro)
|
rs1584764955
|
|
NM_015450.3(POT1):c.887A>G (p.Asn296Ser)
|
|
|
NM_015450.3(POT1):c.895G>A (p.Ala299Thr)
|
rs149273459
|
|
NM_015450.3(POT1):c.898A>C (p.Asn300His)
|
|
|
NM_015450.3(POT1):c.89A>C (p.Lys30Thr)
|
|
|
NM_015450.3(POT1):c.89A>G (p.Lys30Arg)
|
|
|
NM_015450.3(POT1):c.8T>C (p.Leu3Ser)
|
rs1221048621
|
|
NM_015450.3(POT1):c.9+3A>G
|
rs372320290
|
|
NM_015450.3(POT1):c.9+4_9+6del
|
rs1442340607
|
|
NM_015450.3(POT1):c.9+5G>T
|
|
|
NM_015450.3(POT1):c.901C>A (p.Gln301Lys)
|
rs763135130
|
|
NM_015450.3(POT1):c.904C>T (p.His302Tyr)
|
|
|
NM_015450.3(POT1):c.908C>T (p.Ser303Leu)
|
rs1795316757
|
|
NM_015450.3(POT1):c.910G>C (p.Asp304His)
|
|
|
NM_015450.3(POT1):c.911A>T (p.Asp304Val)
|
|
|
NM_015450.3(POT1):c.912T>A (p.Asp304Glu)
|
rs2116500951
|
|
NM_015450.3(POT1):c.913G>C (p.Val305Leu)
|
|
|
NM_015450.3(POT1):c.916A>T (p.Ile306Phe)
|
rs1415345156
|
|
NM_015450.3(POT1):c.91T>C (p.Phe31Leu)
|
|
|
NM_015450.3(POT1):c.925T>C (p.Ser309Pro)
|
rs1584764901
|
|
NM_015450.3(POT1):c.926C>T (p.Ser309Leu)
|
|
|
NM_015450.3(POT1):c.929A>T (p.Glu310Val)
|
|
|
NM_015450.3(POT1):c.92T>C (p.Phe31Ser)
|
rs1489113369
|
|
NM_015450.3(POT1):c.930A>C (p.Glu310Asp)
|
|
|
NM_015450.3(POT1):c.932C>G (p.Pro311Arg)
|
rs1795315950
|
|
NM_015450.3(POT1):c.934G>C (p.Asp312His)
|
rs2116500833
|
|
NM_015450.3(POT1):c.936C>G (p.Asp312Glu)
|
rs35051558
|
|
NM_015450.3(POT1):c.937G>A (p.Asp313Asn)
|
rs770779418
|
|
NM_015450.3(POT1):c.937G>T (p.Asp313Tyr)
|
rs770779418
|
|
NM_015450.3(POT1):c.938A>G (p.Asp313Gly)
|
|
|
NM_015450.3(POT1):c.93C>A (p.Phe31Leu)
|
rs1584791969
|
|
NM_015450.3(POT1):c.940A>G (p.Ser314Gly)
|
|
|
NM_015450.3(POT1):c.941G>A (p.Ser314Asn)
|
rs2116500770
|
|
NM_015450.3(POT1):c.949+5G>A
|
rs1795315062
|
|
NM_015450.3(POT1):c.949A>G (p.Ser317Gly)
|
rs1554423487
|
|
NM_015450.3(POT1):c.950-17C>G
|
|
|
NM_015450.3(POT1):c.950-915C>T
|
|
|
NM_015450.3(POT1):c.950G>C (p.Ser317Thr)
|
|
|
NM_015450.3(POT1):c.952T>C (p.Ser318Pro)
|
|
|
NM_015450.3(POT1):c.953C>G (p.Ser318Cys)
|
rs1795185799
|
|
NM_015450.3(POT1):c.953C>T (p.Ser318Phe)
|
rs1795185799
|
|
NM_015450.3(POT1):c.955G>A (p.Gly319Arg)
|
|
|
NM_015450.3(POT1):c.956G>T (p.Gly319Val)
|
|
|
NM_015450.3(POT1):c.957A>G (p.Gly319=)
|
|
|
NM_015450.3(POT1):c.961G>C (p.Val321Leu)
|
rs764369599
|
|
NM_015450.3(POT1):c.962T>C (p.Val321Ala)
|
|
|
NM_015450.3(POT1):c.964T>A (p.Ser322Thr)
|
rs1795185450
|
|
NM_015450.3(POT1):c.964T>C (p.Ser322Pro)
|
rs1795185450
|
|
NM_015450.3(POT1):c.965C>T (p.Ser322Leu)
|
rs2116484197
|
|
NM_015450.3(POT1):c.968_970del (p.Leu323del)
|
rs1795185212
|
|
NM_015450.3(POT1):c.969A>T (p.Leu323Phe)
|
rs1166926609
|
|
NM_015450.3(POT1):c.971A>G (p.Tyr324Cys)
|
|
|
NM_015450.3(POT1):c.973G>A (p.Glu325Lys)
|
rs1554421987
|
|
NM_015450.3(POT1):c.974A>G (p.Glu325Gly)
|
rs2116484092
|
|
NM_015450.3(POT1):c.976G>A (p.Val326Ile)
|
rs1407472208
|
|
NM_015450.3(POT1):c.97A>G (p.Lys33Glu)
|
rs749815652
|
|
NM_015450.3(POT1):c.982A>G (p.Arg328Gly)
|
rs1795184644
|
|
NM_015450.3(POT1):c.983G>T (p.Arg328Ile)
|
|
|
NM_015450.3(POT1):c.984A>T (p.Arg328Ser)
|
rs1584761529
|
|
NM_015450.3(POT1):c.986G>A (p.Cys329Tyr)
|
rs1472832603
|
|
NM_015450.3(POT1):c.986G>T (p.Cys329Phe)
|
|
|
NM_015450.3(POT1):c.989A>G (p.Gln330Arg)
|
rs2116483950
|
|
NM_015450.3(POT1):c.992A>G (p.Gln331Arg)
|
rs1795184096
|
|
NM_015450.3(POT1):c.995T>C (p.Leu332Pro)
|
|
|
Single allele
|
|
|