NM_015450.3(POT1):c.1884A>C (p.Thr628=)
|
rs17147565
|
0.03412
|
NM_015450.3(POT1):c.1687-5T>A
|
rs35062732
|
0.00699
|
NM_015450.3(POT1):c.903G>T (p.Gln301His)
|
rs116916706
|
0.00304
|
NM_015450.3(POT1):c.924A>G (p.Gln308=)
|
rs34398311
|
0.00206
|
NM_015450.3(POT1):c.751A>G (p.Met251Val)
|
rs148397357
|
0.00171
|
NM_015450.3(POT1):c.828G>A (p.Arg276=)
|
rs76496261
|
0.00106
|
NM_015450.3(POT1):c.1022A>G (p.Gln341Arg)
|
rs554325914
|
0.00098
|
NM_015450.3(POT1):c.1127A>G (p.Gln376Arg)
|
rs143635917
|
0.00042
|
NM_015450.3(POT1):c.846C>T (p.Asn282=)
|
rs142704514
|
0.00035
|
NM_015450.3(POT1):c.340A>G (p.Ile114Val)
|
rs146552802
|
0.00027
|
NM_015450.3(POT1):c.948A>G (p.Pro316=)
|
rs1453776479
|
0.00023
|
NM_015450.3(POT1):c.1228G>C (p.Asp410His)
|
rs79314063
|
0.00022
|
NM_015450.3(POT1):c.1227A>C (p.Pro409=)
|
rs552835784
|
0.00020
|
NM_015450.3(POT1):c.64A>G (p.Ile22Val)
|
rs375440229
|
0.00019
|
NM_015450.3(POT1):c.1023G>A (p.Gln341=)
|
rs147003926
|
0.00016
|
NM_015450.3(POT1):c.670G>A (p.Asp224Asn)
|
rs202187871
|
0.00012
|
NM_015450.3(POT1):c.813C>T (p.Tyr271=)
|
rs61756407
|
0.00011
|
NM_015450.3(POT1):c.1338G>A (p.Pro446=)
|
rs185651210
|
0.00010
|
NM_015450.3(POT1):c.771A>T (p.Thr257=)
|
rs762679439
|
0.00010
|
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.939C>T (p.Asp313=)
|
rs746756338
|
0.00006
|
NM_015450.3(POT1):c.526G>A (p.Gly176Arg)
|
rs774576173
|
0.00005
|
NM_015450.3(POT1):c.1087C>T (p.Arg363Ter)
|
rs756198077
|
0.00004
|
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.1283A>G (p.Asn428Ser)
|
rs747149913
|
0.00004
|
NM_015450.3(POT1):c.1401G>A (p.Ser467=)
|
rs775385144
|
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.1803G>A (p.Pro601=)
|
rs754981355
|
0.00004
|
NM_015450.3(POT1):c.1877A>T (p.Asp626Val)
|
rs545521975
|
0.00004
|
NM_015450.3(POT1):c.438G>A (p.Pro146=)
|
rs373691389
|
0.00004
|
NM_015450.3(POT1):c.703G>A (p.Val235Ile)
|
rs753638532
|
0.00004
|
NM_015450.3(POT1):c.879A>G (p.Glu293=)
|
rs759178052
|
0.00004
|
NM_015450.3(POT1):c.1071dup (p.Gln358fs)
|
rs750470470
|
0.00003
|
NM_015450.3(POT1):c.1077A>G (p.Gln359=)
|
rs539321499
|
0.00003
|
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.1665A>G (p.Leu555=)
|
rs776373931
|
0.00003
|
NM_015450.3(POT1):c.1742A>G (p.Lys581Arg)
|
rs201023336
|
0.00003
|
NM_015450.3(POT1):c.1797A>G (p.Ala599=)
|
rs752430203
|
0.00003
|
NM_015450.3(POT1):c.1810G>A (p.Glu604Lys)
|
rs753762757
|
0.00003
|
NM_015450.3(POT1):c.525C>T (p.Asp175=)
|
rs761930094
|
0.00003
|
NM_015450.3(POT1):c.576A>G (p.Pro192=)
|
rs1450319624
|
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.972C>T (p.Tyr324=)
|
rs758749502
|
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.1164-1G>A
|
rs866612394
|
0.00002
|
NM_015450.3(POT1):c.1183G>A (p.Gly395Ser)
|
rs757373061
|
0.00002
|
NM_015450.3(POT1):c.1284T>C (p.Asn428=)
|
rs141341950
|
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.141A>G (p.Val47=)
|
rs1056627672
|
0.00002
|
NM_015450.3(POT1):c.1440C>T (p.His480=)
|
rs777152247
|
0.00002
|
NM_015450.3(POT1):c.1568C>G (p.Ser523Trp)
|
rs139388603
|
0.00002
|
NM_015450.3(POT1):c.1569G>A (p.Ser523=)
|
rs773176095
|
0.00002
|
NM_015450.3(POT1):c.1606G>A (p.Val536Ile)
|
rs1174783791
|
0.00002
|
NM_015450.3(POT1):c.1807T>C (p.Leu603=)
|
rs375110259
|
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.567A>G (p.Thr189=)
|
rs763145744
|
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.747A>G (p.Gln249=)
|
rs35361862
|
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.950-3T>C
|
rs1345963992
|
0.00002
|
NM_015450.3(POT1):c.978A>G (p.Val326=)
|
rs143616208
|
0.00002
|
NM_015450.3(POT1):c.1007-1G>A
|
rs1584758519
|
0.00001
|
NM_015450.3(POT1):c.1007-5T>C
|
rs1584758541
|
0.00001
|
NM_015450.3(POT1):c.1021C>G (p.Gln341Glu)
|
rs767757297
|
0.00001
|
NM_015450.3(POT1):c.1032G>A (p.Glu344=)
|
rs1490433224
|
0.00001
|
NM_015450.3(POT1):c.1044A>G (p.Leu348=)
|
rs769209315
|
0.00001
|
NM_015450.3(POT1):c.1050C>T (p.Ala350=)
|
rs1199499328
|
0.00001
|
NM_015450.3(POT1):c.1067C>T (p.Ala356Val)
|
rs1342019926
|
0.00001
|
NM_015450.3(POT1):c.1074A>G (p.Gln358=)
|
rs779435986
|
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.1107T>C (p.Tyr369=)
|
rs762686878
|
0.00001
|
NM_015450.3(POT1):c.1120C>T (p.Leu374=)
|
rs148091643
|
0.00001
|
NM_015450.3(POT1):c.1122A>C (p.Leu374=)
|
rs143283657
|
0.00001
|
NM_015450.3(POT1):c.1130C>G (p.Ser377Cys)
|
rs776187798
|
0.00001
|
NM_015450.3(POT1):c.1164-3T>C
|
rs1322783514
|
0.00001
|
NM_015450.3(POT1):c.1167A>G (p.Gln389=)
|
rs775913689
|
0.00001
|
NM_015450.3(POT1):c.1185C>T (p.Gly395=)
|
rs538385307
|
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.1233C>T (p.Val411=)
|
rs376273583
|
0.00001
|
NM_015450.3(POT1):c.1234A>G (p.Lys412Glu)
|
rs371992419
|
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.1260T>C (p.Asp420=)
|
rs933280158
|
0.00001
|
NM_015450.3(POT1):c.1269C>T (p.Ile423=)
|
rs777159830
|
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.1359T>C (p.Leu453=)
|
rs201869790
|
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.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.1473A>G (p.Pro491=)
|
rs1307654827
|
0.00001
|
NM_015450.3(POT1):c.1481T>A (p.Ile494Lys)
|
rs774858551
|
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.1506-1G>A
|
rs1418539002
|
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.1545A>G (p.Leu515=)
|
rs1794704486
|
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.1566A>G (p.Thr522=)
|
rs746796357
|
0.00001
|
NM_015450.3(POT1):c.156G>A (p.Gln52=)
|
rs974132941
|
0.00001
|
NM_015450.3(POT1):c.1585G>A (p.Val529Met)
|
rs34973253
|
0.00001
|
NM_015450.3(POT1):c.1611C>T (p.Pro537=)
|
rs1480046591
|
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.1707A>C (p.Pro569=)
|
rs1218962425
|
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.1779A>G (p.Pro593=)
|
rs1584746381
|
0.00001
|
NM_015450.3(POT1):c.1814G>C (p.Cys605Ser)
|
rs766020213
|
0.00001
|
NM_015450.3(POT1):c.1815C>T (p.Cys605=)
|
rs760056377
|
0.00001
|
NM_015450.3(POT1):c.1832A>G (p.Asn611Ser)
|
rs376707680
|
0.00001
|
NM_015450.3(POT1):c.183C>T (p.Leu61=)
|
rs1455799309
|
0.00001
|
NM_015450.3(POT1):c.1851T>C (p.Asp617=)
|
rs142059197
|
0.00001
|
NM_015450.3(POT1):c.1865A>G (p.Tyr622Cys)
|
rs760062934
|
0.00001
|
NM_015450.3(POT1):c.186T>C (p.Phe62=)
|
rs1376049205
|
0.00001
|
NM_015450.3(POT1):c.1870A>G (p.Ile624Val)
|
rs1410012081
|
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.231T>C (p.Asp77=)
|
rs1205715970
|
0.00001
|
NM_015450.3(POT1):c.233T>C (p.Ile78Thr)
|
rs947005337
|
0.00001
|
NM_015450.3(POT1):c.238C>T (p.Arg80Cys)
|
rs778692211
|
0.00001
|
NM_015450.3(POT1):c.264A>G (p.Val88=)
|
rs1453961322
|
0.00001
|
NM_015450.3(POT1):c.273G>A (p.Lys91=)
|
rs748016795
|
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.306A>G (p.Ala102=)
|
rs1182980873
|
0.00001
|
NM_015450.3(POT1):c.315G>A (p.Thr105=)
|
rs377547236
|
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.330G>A (p.Leu110=)
|
rs779926456
|
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.39C>T (p.Pro13=)
|
rs544201070
|
0.00001
|
NM_015450.3(POT1):c.409C>T (p.Arg137Cys)
|
rs765706794
|
0.00001
|
NM_015450.3(POT1):c.414T>C (p.Val138=)
|
rs1182822582
|
0.00001
|
NM_015450.3(POT1):c.43A>C (p.Asn15His)
|
rs1554434768
|
0.00001
|
NM_015450.3(POT1):c.447A>G (p.Thr149=)
|
rs1469228736
|
0.00001
|
NM_015450.3(POT1):c.448T>C (p.Leu150=)
|
rs1232926005
|
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.495T>C (p.Thr165=)
|
rs773138295
|
0.00001
|
NM_015450.3(POT1):c.498T>C (p.Cys166=)
|
rs1362261402
|
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.546+5A>G
|
rs977061425
|
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.588C>T (p.Val196=)
|
rs1584769909
|
0.00001
|
NM_015450.3(POT1):c.630C>T (p.Ile210=)
|
rs1188736928
|
0.00001
|
NM_015450.3(POT1):c.635G>A (p.Arg212Gln)
|
rs746903370
|
0.00001
|
NM_015450.3(POT1):c.639A>G (p.Leu213=)
|
rs1309356160
|
0.00001
|
NM_015450.3(POT1):c.651A>G (p.Thr217=)
|
rs142390029
|
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.669C>T (p.Tyr223=)
|
rs1307901642
|
0.00001
|
NM_015450.3(POT1):c.675C>T (p.Asn225=)
|
rs1050055964
|
0.00001
|
NM_015450.3(POT1):c.684T>C (p.His228=)
|
rs778643955
|
0.00001
|
NM_015450.3(POT1):c.688G>A (p.Ala230Thr)
|
rs1315178609
|
0.00001
|
NM_015450.3(POT1):c.720A>G (p.Arg240=)
|
rs766211616
|
0.00001
|
NM_015450.3(POT1):c.725A>G (p.Tyr242Cys)
|
rs1188122279
|
0.00001
|
NM_015450.3(POT1):c.72T>C (p.Asn24=)
|
rs774667836
|
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.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.862C>T (p.Leu288=)
|
rs199583149
|
0.00001
|
NM_015450.3(POT1):c.870-3T>C
|
rs1291756890
|
0.00001
|
NM_015450.3(POT1):c.87G>A (p.Val29=)
|
rs1481759760
|
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.899A>G (p.Asn300Ser)
|
rs573222502
|
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.933T>A (p.Pro311=)
|
rs1183874128
|
0.00001
|
NM_015450.3(POT1):c.936C>T (p.Asp312=)
|
rs35051558
|
0.00001
|
NM_015450.3(POT1):c.938A>T (p.Asp313Val)
|
rs1584764879
|
0.00001
|
NM_015450.3(POT1):c.987T>C (p.Cys329=)
|
rs765813344
|
0.00001
|
NM_015450.3(POT1):c.994C>T (p.Leu332=)
|
rs138223484
|
0.00001
|
NM_015450.3(POT1):c.996A>G (p.Leu332=)
|
rs1224859801
|
0.00001
|
NM_015450.3(POT1):c.-4A>G
|
|
|
NM_015450.3(POT1):c.10-2A>C
|
rs1554434788
|
|
NM_015450.3(POT1):c.10-3T>C
|
rs1796393484
|
|
NM_015450.3(POT1):c.10-5T>G
|
|
|
NM_015450.3(POT1):c.1003A>G (p.Thr335Ala)
|
|
|
NM_015450.3(POT1):c.1006+2T>C
|
rs1795183662
|
|
NM_015450.3(POT1):c.1006+3A>G
|
rs2116483768
|
|
NM_015450.3(POT1):c.1006+5G>A
|
|
|
NM_015450.3(POT1):c.1007-2_1009del
|
rs754005964
|
|
NM_015450.3(POT1):c.1008A>T (p.Ile336=)
|
|
|
NM_015450.3(POT1):c.1009C>T (p.Leu337Phe)
|
rs1795066742
|
|
NM_015450.3(POT1):c.100C>G (p.Pro34Ala)
|
|
|
NM_015450.3(POT1):c.100C>T (p.Pro34Ser)
|
|
|
NM_015450.3(POT1):c.1014A>G (p.Thr338=)
|
|
|
NM_015450.3(POT1):c.1016A>C (p.Asp339Ala)
|
|
|
NM_015450.3(POT1):c.1021C>T (p.Gln341Ter)
|
|
|
NM_015450.3(POT1):c.1023G>T (p.Gln341His)
|
|
|
NM_015450.3(POT1):c.1025A>G (p.Tyr342Cys)
|
|
|
NM_015450.3(POT1):c.1025A>T (p.Tyr342Phe)
|
|
|
NM_015450.3(POT1):c.1030G>A (p.Glu344Lys)
|
rs951589289
|
|
NM_015450.3(POT1):c.1035G>A (p.Arg345=)
|
rs1426607411
|
|
NM_015450.3(POT1):c.1036A>C (p.Thr346Pro)
|
|
|
NM_015450.3(POT1):c.1038A>G (p.Thr346=)
|
rs762879798
|
|
NM_015450.3(POT1):c.1040C>T (p.Pro347Leu)
|
rs775456070
|
|
NM_015450.3(POT1):c.1046G>A (p.Cys349Tyr)
|
|
|
NM_015450.3(POT1):c.104C>A (p.Pro35Gln)
|
|
|
NM_015450.3(POT1):c.1051A>C (p.Ile351Leu)
|
|
|
NM_015450.3(POT1):c.1059A>G (p.Lys353=)
|
|
|
NM_015450.3(POT1):c.105A>G (p.Pro35=)
|
rs1348510446
|
|
NM_015450.3(POT1):c.1062A>G (p.Gln354=)
|
rs2116468064
|
|
NM_015450.3(POT1):c.1065A>G (p.Lys355=)
|
|
|
NM_015450.3(POT1):c.1065_1067delinsGG (p.Ala356fs)
|
|
|
NM_015450.3(POT1):c.1065dup (p.Ala356fs)
|
rs1225878757
|
|
NM_015450.3(POT1):c.1068T>C (p.Ala356=)
|
|
|
NM_015450.3(POT1):c.1069C>G (p.Pro357Ala)
|
rs748578303
|
|
NM_015450.3(POT1):c.1071T>G (p.Pro357=)
|
|
|
NM_015450.3(POT1):c.1072CAA[1] (p.Gln359del)
|
rs1461765375
|
|
NM_015450.3(POT1):c.1076A>G (p.Gln359Arg)
|
|
|
NM_015450.3(POT1):c.1078T>C (p.Tyr360His)
|
rs1554420630
|
|
NM_015450.3(POT1):c.1079A>T (p.Tyr360Phe)
|
|
|
NM_015450.3(POT1):c.107A>G (p.Tyr36Cys)
|
rs1057524691
|
|
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.1088G>T (p.Arg363Leu)
|
|
|
NM_015450.3(POT1):c.1089A>T (p.Arg363=)
|
|
|
NM_015450.3(POT1):c.108T>G (p.Tyr36Ter)
|
|
|
NM_015450.3(POT1):c.1096T>C (p.Leu366=)
|
rs1554420623
|
|
NM_015450.3(POT1):c.1097T>C (p.Leu366Ser)
|
rs1554420620
|
|
NM_015450.3(POT1):c.1098G>A (p.Leu366=)
|
|
|
NM_015450.3(POT1):c.109C>A (p.Leu37Ile)
|
|
|
NM_015450.3(POT1):c.1100G>A (p.Arg367Lys)
|
|
|
NM_015450.3(POT1):c.1101G>A (p.Arg367=)
|
|
|
NM_015450.3(POT1):c.1102T>A (p.Ser368Thr)
|
|
|
NM_015450.3(POT1):c.1104A>G (p.Ser368=)
|
rs1381478448
|
|
NM_015450.3(POT1):c.1107del (p.Ser368_Tyr369insTer)
|
|
|
NM_015450.3(POT1):c.1112C>T (p.Pro371Leu)
|
|
|
NM_015450.3(POT1):c.1113C>T (p.Pro371=)
|
|
|
NM_015450.3(POT1):c.1113del (p.Arg372fs)
|
|
|
NM_015450.3(POT1):c.1116A>G (p.Arg372=)
|
rs1249442758
|
|
NM_015450.3(POT1):c.1117A>G (p.Arg373Gly)
|
rs971657671
|
|
NM_015450.3(POT1):c.1118G>A (p.Arg373Lys)
|
|
|
NM_015450.3(POT1):c.1119A>G (p.Arg373=)
|
|
|
NM_015450.3(POT1):c.1122A>G (p.Leu374=)
|
rs143283657
|
|
NM_015450.3(POT1):c.1124T>C (p.Phe375Ser)
|
|
|
NM_015450.3(POT1):c.112A>T (p.Ser38Cys)
|
|
|
NM_015450.3(POT1):c.1130C>A (p.Ser377Tyr)
|
|
|
NM_015450.3(POT1):c.1131T>A (p.Ser377=)
|
|
|
NM_015450.3(POT1):c.1132G>C (p.Val378Leu)
|
rs1245805221
|
|
NM_015450.3(POT1):c.1135A>T (p.Lys379Ter)
|
|
|
NM_015450.3(POT1):c.1139T>C (p.Leu380Pro)
|
|
|
NM_015450.3(POT1):c.113G>A (p.Ser38Asn)
|
rs1796390486
|
|
NM_015450.3(POT1):c.113G>T (p.Ser38Ile)
|
rs1796390486
|
|
NM_015450.3(POT1):c.1146C>T (p.Cys382=)
|
|
|
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.1153T>C (p.Cys385Arg)
|
|
|
NM_015450.3(POT1):c.1156C>A (p.His386Asn)
|
rs1168740597
|
|
NM_015450.3(POT1):c.1157A>G (p.His386Arg)
|
|
|
NM_015450.3(POT1):c.1161G>T (p.Leu387Phe)
|
rs1584758342
|
|
NM_015450.3(POT1):c.1163+1G>A
|
rs1562981766
|
|
NM_015450.3(POT1):c.1163+3_1163+6del
|
rs1407823530
|
|
NM_015450.3(POT1):c.1164-4T>G
|
rs1584757391
|
|
NM_015450.3(POT1):c.1164G>T (p.Leu388=)
|
rs1405485811
|
|
NM_015450.3(POT1):c.116A>G (p.Lys39Arg)
|
rs2116629538
|
|
NM_015450.3(POT1):c.1171G>A (p.Val391Ile)
|
|
|
NM_015450.3(POT1):c.1172T>C (p.Val391Ala)
|
|
|
NM_015450.3(POT1):c.1178A>T (p.His393Leu)
|
|
|
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.1186G>C (p.Asp396His)
|
|
|
NM_015450.3(POT1):c.1187A>G (p.Asp396Gly)
|
rs1584757355
|
|
NM_015450.3(POT1):c.1192G>T (p.Asp398Tyr)
|
|
|
NM_015450.3(POT1):c.1197A>G (p.Ile399Met)
|
rs1554420158
|
|
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>C (p.Gly40Ala)
|
|
|
NM_015450.3(POT1):c.1205A>G (p.Gln402Arg)
|
rs1646830386
|
|
NM_015450.3(POT1):c.1210G>A (p.Gly404Ser)
|
|
|
NM_015450.3(POT1):c.1211G>T (p.Gly404Val)
|
rs35536751
|
|
NM_015450.3(POT1):c.1219A>G (p.Lys407Glu)
|
rs766397437
|
|
NM_015450.3(POT1):c.1223C>T (p.Thr408Ile)
|
rs2116461902
|
|
NM_015450.3(POT1):c.1224C>T (p.Thr408=)
|
|
|
NM_015450.3(POT1):c.1227A>G (p.Pro409=)
|
rs552835784
|
|
NM_015450.3(POT1):c.1229A>G (p.Asp410Gly)
|
rs1562980939
|
|
NM_015450.3(POT1):c.1237C>T (p.Leu413=)
|
|
|
NM_015450.3(POT1):c.1239A>G (p.Leu413=)
|
|
|
NM_015450.3(POT1):c.124+1G>A
|
|
|
NM_015450.3(POT1):c.124+5G>T
|
rs1027069149
|
|
NM_015450.3(POT1):c.1244A>G (p.Asn415Ser)
|
|
|
NM_015450.3(POT1):c.1247C>T (p.Thr416Ile)
|
rs1795017352
|
|
NM_015450.3(POT1):c.125-2A>G
|
rs1562997292
|
|
NM_015450.3(POT1):c.125-3del
|
rs1584777876
|
|
NM_015450.3(POT1):c.1251A>G (p.Ser417=)
|
rs1554420121
|
|
NM_015450.3(POT1):c.1251del (p.Leu418fs)
|
|
|
NM_015450.3(POT1):c.1257T>C (p.Tyr419=)
|
rs1584757255
|
|
NM_015450.3(POT1):c.1258G>T (p.Asp420Tyr)
|
rs1795016740
|
|
NM_015450.3(POT1):c.125A>G (p.Asp42Gly)
|
rs1562997283
|
|
NM_015450.3(POT1):c.1262C>T (p.Ser421Leu)
|
rs1413163992
|
|
NM_015450.3(POT1):c.1263A>G (p.Ser421=)
|
|
|
NM_015450.3(POT1):c.1267A>G (p.Ile423Val)
|
|
|
NM_015450.3(POT1):c.1267A>T (p.Ile423Phe)
|
|
|
NM_015450.3(POT1):c.1268T>A (p.Ile423Asn)
|
|
|
NM_015450.3(POT1):c.126T>G (p.Asp42Glu)
|
rs1554429221
|
|
NM_015450.3(POT1):c.1270T>C (p.Trp424Arg)
|
rs1584757234
|
|
NM_015450.3(POT1):c.1273A>G (p.Thr425Ala)
|
rs1173735920
|
|
NM_015450.3(POT1):c.1274C>T (p.Thr425Ile)
|
|
|
NM_015450.3(POT1):c.1280A>C (p.Lys427Thr)
|
rs1187946222
|
|
NM_015450.3(POT1):c.1280A>G (p.Lys427Arg)
|
|
|
NM_015450.3(POT1):c.1285C>A (p.Gln429Lys)
|
rs1584757207
|
|
NM_015450.3(POT1):c.1285C>T (p.Gln429Ter)
|
|
|
NM_015450.3(POT1):c.1286A>G (p.Gln429Arg)
|
|
|
NM_015450.3(POT1):c.1287A>G (p.Gln429=)
|
|
|
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.1290A>G (p.Lys430=)
|
rs1562980850
|
|
NM_015450.3(POT1):c.1291G>A (p.Gly431Arg)
|
|
|
NM_015450.3(POT1):c.1293A>C (p.Gly431=)
|
|
|
NM_015450.3(POT1):c.1295G>C (p.Arg432Pro)
|
|
|
NM_015450.3(POT1):c.1300del (p.Lys433_Val434insTer)
|
rs1795015022
|
|
NM_015450.3(POT1):c.1303G>A (p.Ala435Thr)
|
rs567021227
|
|
NM_015450.3(POT1):c.1304C>G (p.Ala435Gly)
|
|
|
NM_015450.3(POT1):c.1305A>C (p.Ala435=)
|
rs756111359
|
|
NM_015450.3(POT1):c.1305A>G (p.Ala435=)
|
rs756111359
|
|
NM_015450.3(POT1):c.1305A>T (p.Ala435=)
|
rs756111359
|
|
NM_015450.3(POT1):c.1305del (p.Val436fs)
|
rs1584757180
|
|
NM_015450.3(POT1):c.1315G>A (p.Val439Met)
|
rs547000637
|
|
NM_015450.3(POT1):c.1319A>G (p.Lys440Arg)
|
|
|
NM_015450.3(POT1):c.1322A>C (p.Asn441Thr)
|
rs1477300313
|
|
NM_015450.3(POT1):c.1322dup (p.Asn441fs)
|
rs1358966427
|
|
NM_015450.3(POT1):c.1324A>T (p.Asn442Tyr)
|
rs2116461234
|
|
NM_015450.3(POT1):c.1327G>A (p.Gly443Ser)
|
|
|
NM_015450.3(POT1):c.1327G>T (p.Gly443Cys)
|
|
|
NM_015450.3(POT1):c.1329T>C (p.Gly443=)
|
|
|
NM_015450.3(POT1):c.132C>T (p.Cys44=)
|
|
|
NM_015450.3(POT1):c.1335C>T (p.Leu445=)
|
rs1584757150
|
|
NM_015450.3(POT1):c.1338G>T (p.Pro446=)
|
rs185651210
|
|
NM_015450.3(POT1):c.1340T>A (p.Leu447His)
|
rs1450240396
|
|
NM_015450.3(POT1):c.1348G>A (p.Glu450Lys)
|
|
|
NM_015450.3(POT1):c.1351T>C (p.Cys451Arg)
|
|
|
NM_015450.3(POT1):c.1353T>C (p.Cys451=)
|
|
|
NM_015450.3(POT1):c.1356A>G (p.Leu452=)
|
rs2116461050
|
|
NM_015450.3(POT1):c.1358T>G (p.Leu453Arg)
|
|
|
NM_015450.3(POT1):c.1360T>C (p.Leu454=)
|
rs1554420018
|
|
NM_015450.3(POT1):c.1361T>G (p.Leu454Trp)
|
|
|
NM_015450.3(POT1):c.1364T>C (p.Ile455Thr)
|
|
|
NM_015450.3(POT1):c.1369+1G>A
|
|
|
NM_015450.3(POT1):c.1369+1G>T
|
|
|
NM_015450.3(POT1):c.1369+1_1369+5del
|
rs750755822
|
|
NM_015450.3(POT1):c.1369G>A (p.Gly457Arg)
|
|
|
NM_015450.3(POT1):c.1370-3C>G
|
rs1584753403
|
|
NM_015450.3(POT1):c.1372G>A (p.Gly458Ser)
|
rs1794876267
|
|
NM_015450.3(POT1):c.1372G>T (p.Gly458Cys)
|
|
|
NM_015450.3(POT1):c.1373G>A (p.Gly458Asp)
|
rs1562977976
|
|
NM_015450.3(POT1):c.1373G>T (p.Gly458Val)
|
|
|
NM_015450.3(POT1):c.1377A>C (p.Thr459=)
|
|
|
NM_015450.3(POT1):c.1381A>G (p.Ser461Gly)
|
|
|
NM_015450.3(POT1):c.1383T>A (p.Ser461Arg)
|
|
|
NM_015450.3(POT1):c.1389T>C (p.Ile463=)
|
rs891347957
|
|
NM_015450.3(POT1):c.1393A>G (p.Lys465Glu)
|
rs1246723310
|
|
NM_015450.3(POT1):c.1396C>G (p.Leu466Val)
|
rs958828560
|
|
NM_015450.3(POT1):c.1398C>A (p.Leu466=)
|
rs1794875043
|
|
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.1402A>G (p.Asn468Asp)
|
|
|
NM_015450.3(POT1):c.1412A>G (p.Asn471Ser)
|
|
|
NM_015450.3(POT1):c.1413T>C (p.Asn471=)
|
|
|
NM_015450.3(POT1):c.1414A>C (p.Ser472Arg)
|
rs769757327
|
|
NM_015450.3(POT1):c.1414A>T (p.Ser472Cys)
|
|
|
NM_015450.3(POT1):c.1415G>A (p.Ser472Asn)
|
|
|
NM_015450.3(POT1):c.1416T>C (p.Ser472=)
|
rs146643991
|
|
NM_015450.3(POT1):c.1417G>A (p.Val473Ile)
|
|
|
NM_015450.3(POT1):c.1423C>G (p.Pro475Ala)
|
|
|
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>A (p.Arg477Lys)
|
|
|
NM_015450.3(POT1):c.1434T>C (p.Ser478=)
|
rs1562977862
|
|
NM_015450.3(POT1):c.1434T>G (p.Ser478=)
|
|
|
NM_015450.3(POT1):c.1435G>A (p.Gly479Ser)
|
|
|
NM_015450.3(POT1):c.143C>T (p.Thr48Ile)
|
rs1002823146
|
|
NM_015450.3(POT1):c.1446C>G (p.Asp482Glu)
|
|
|
NM_015450.3(POT1):c.1449G>A (p.Leu483=)
|
rs2116444113
|
|
NM_015450.3(POT1):c.1450G>A (p.Glu484Lys)
|
rs756511762
|
|
NM_015450.3(POT1):c.1470A>G (p.Ala490=)
|
|
|
NM_015450.3(POT1):c.147del (p.Ile49fs)
|
rs1064794328
|
|
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.1487G>A (p.Gly496Glu)
|
|
|
NM_015450.3(POT1):c.148G>A (p.Val50Met)
|
|
|
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.1494A>T (p.Ile498=)
|
|
|
NM_015450.3(POT1):c.1495C>T (p.His499Tyr)
|
|
|
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.150G>A (p.Val50=)
|
rs1795855228
|
|
NM_015450.3(POT1):c.150G>T (p.Val50=)
|
|
|
NM_015450.3(POT1):c.1513C>G (p.Gln505Glu)
|
|
|
NM_015450.3(POT1):c.1514A>G (p.Gln505Arg)
|
rs1794705650
|
|
NM_015450.3(POT1):c.1515G>A (p.Gln505=)
|
rs1794705540
|
|
NM_015450.3(POT1):c.1515G>C (p.Gln505His)
|
|
|
NM_015450.3(POT1):c.1516T>C (p.Cys506Arg)
|
|
|
NM_015450.3(POT1):c.1517G>A (p.Cys506Tyr)
|
|
|
NM_015450.3(POT1):c.1520C>T (p.Ser507Phe)
|
|
|
NM_015450.3(POT1):c.1523G>T (p.Ser508Ile)
|
rs144522387
|
|
NM_015450.3(POT1):c.1527G>C (p.Leu509Phe)
|
|
|
NM_015450.3(POT1):c.1530A>G (p.Arg510=)
|
|
|
NM_015450.3(POT1):c.1531T>C (p.Ser511Pro)
|
rs1584749215
|
|
NM_015450.3(POT1):c.1532C>T (p.Ser511Phe)
|
rs1554416456
|
|
NM_015450.3(POT1):c.1533C>T (p.Ser511=)
|
rs1251342049
|
|
NM_015450.3(POT1):c.1537C>A (p.Gln513Lys)
|
|
|
NM_015450.3(POT1):c.1548T>G (p.Asn516Lys)
|
|
|
NM_015450.3(POT1):c.1550C>A (p.Ser517Tyr)
|
|
|
NM_015450.3(POT1):c.1551C>T (p.Ser517=)
|
rs1447234373
|
|
NM_015450.3(POT1):c.1554G>A (p.Leu518=)
|
|
|
NM_015450.3(POT1):c.1555G>T (p.Val519Phe)
|
rs776873207
|
|
NM_015450.3(POT1):c.1564A>G (p.Thr522Ala)
|
rs2116422065
|
|
NM_015450.3(POT1):c.1568C>A (p.Ser523Ter)
|
|
|
NM_015450.3(POT1):c.1576C>T (p.Pro526Ser)
|
rs1794703492
|
|
NM_015450.3(POT1):c.1578T>G (p.Pro526=)
|
rs1584749147
|
|
NM_015450.3(POT1):c.1579del (p.Ser527fs)
|
|
|
NM_015450.3(POT1):c.1589C>A (p.Ala530Glu)
|
|
|
NM_015450.3(POT1):c.1590A>C (p.Ala530=)
|
rs1482990952
|
|
NM_015450.3(POT1):c.1590A>G (p.Ala530=)
|
|
|
NM_015450.3(POT1):c.1591G>A (p.Glu531Lys)
|
|
|
NM_015450.3(POT1):c.1594+3T>C
|
|
|
NM_015450.3(POT1):c.1595-4_1595-3del
|
|
|
NM_015450.3(POT1):c.1596A>G (p.Ala532=)
|
rs1584747825
|
|
NM_015450.3(POT1):c.15A>G (p.Pro5=)
|
rs764164330
|
|
NM_015450.3(POT1):c.1601G>A (p.Gly534Asp)
|
rs1413291646
|
|
NM_015450.3(POT1):c.1603A>G (p.Ile535Val)
|
|
|
NM_015450.3(POT1):c.1606G>C (p.Val536Leu)
|
|
|
NM_015450.3(POT1):c.1607T>C (p.Val536Ala)
|
rs761551156
|
|
NM_015450.3(POT1):c.1608A>G (p.Val536=)
|
rs1388335234
|
|
NM_015450.3(POT1):c.160A>G (p.Asn54Asp)
|
rs1398488689
|
|
NM_015450.3(POT1):c.1611C>G (p.Pro537=)
|
|
|
NM_015450.3(POT1):c.1614C>T (p.Leu538=)
|
rs969018798
|
|
NM_015450.3(POT1):c.1615C>T (p.Gln539Ter)
|
rs2116415082
|
|
NM_015450.3(POT1):c.1620T>C (p.Tyr540=)
|
|
|
NM_015450.3(POT1):c.1621G>A (p.Val541Met)
|
|
|
NM_015450.3(POT1):c.162T>C (p.Asn54=)
|
|
|
NM_015450.3(POT1):c.1634C>T (p.Thr545Ile)
|
rs2116414961
|
|
NM_015450.3(POT1):c.1635C>T (p.Thr545=)
|
rs1211488720
|
|
NM_015450.3(POT1):c.1638T>C (p.Phe546=)
|
rs2116414940
|
|
NM_015450.3(POT1):c.163G>A (p.Val55Ile)
|
rs2116567668
|
|
NM_015450.3(POT1):c.1641A>G (p.Thr547=)
|
rs2116414921
|
|
NM_015450.3(POT1):c.1647T>A (p.Asp549Glu)
|
|
|
NM_015450.3(POT1):c.1647T>C (p.Asp549=)
|
|
|
NM_015450.3(POT1):c.1648_1683dup (p.Asp550_Asp561dup)
|
rs1584747723
|
|
NM_015450.3(POT1):c.1653A>G (p.Gly551=)
|
rs745543835
|
|
NM_015450.3(POT1):c.1656A>C (p.Thr552=)
|
rs2116414814
|
|
NM_015450.3(POT1):c.1658G>A (p.Gly553Glu)
|
rs1584747757
|
|
NM_015450.3(POT1):c.1662A>C (p.Val554=)
|
rs1554415851
|
|
NM_015450.3(POT1):c.1662A>G (p.Val554=)
|
rs1554415851
|
|
NM_015450.3(POT1):c.1663C>T (p.Leu555=)
|
|
|
NM_015450.3(POT1):c.1664T>C (p.Leu555Pro)
|
rs1584747751
|
|
NM_015450.3(POT1):c.1672dup (p.Tyr558fs)
|
rs2116414744
|
|
NM_015450.3(POT1):c.1673A>G (p.Tyr558Cys)
|
rs2116414736
|
|
NM_015450.3(POT1):c.1677C>G (p.Leu559=)
|
|
|
NM_015450.3(POT1):c.1677C>T (p.Leu559=)
|
rs988850329
|
|
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.1680G>A (p.Met560Ile)
|
|
|
NM_015450.3(POT1):c.1682A>G (p.Asp561Gly)
|
|
|
NM_015450.3(POT1):c.1682del (p.Asp561fs)
|
|
|
NM_015450.3(POT1):c.1686+4A>G
|
rs907669138
|
|
NM_015450.3(POT1):c.1686+4_1686+7del
|
rs1584747718
|
|
NM_015450.3(POT1):c.1686T>A (p.Ser562=)
|
|
|
NM_015450.3(POT1):c.1687-2del
|
|
|
NM_015450.3(POT1):c.1687-4T>C
|
rs1794605002
|
|
NM_015450.3(POT1):c.1698C>G (p.Phe566Leu)
|
|
|
NM_015450.3(POT1):c.169C>T (p.Leu57=)
|
rs1795854453
|
|
NM_015450.3(POT1):c.1704T>C (p.Ile568=)
|
rs749834304
|
|
NM_015450.3(POT1):c.1705C>G (p.Pro569Ala)
|
rs1388805721
|
|
NM_015450.3(POT1):c.1708G>A (p.Ala570Thr)
|
|
|
NM_015450.3(POT1):c.1709C>T (p.Ala570Val)
|
|
|
NM_015450.3(POT1):c.1710A>G (p.Ala570=)
|
|
|
NM_015450.3(POT1):c.1711T>G (p.Ser571Ala)
|
rs1794604371
|
|
NM_015450.3(POT1):c.1713A>G (p.Ser571=)
|
|
|
NM_015450.3(POT1):c.1716A>T (p.Glu572Asp)
|
|
|
NM_015450.3(POT1):c.1717G>T (p.Val573Phe)
|
|
|
NM_015450.3(POT1):c.1729G>A (p.Asp577Asn)
|
|
|
NM_015450.3(POT1):c.1729G>T (p.Asp577Tyr)
|
rs764901825
|
|
NM_015450.3(POT1):c.172A>G (p.Thr58Ala)
|
|
|
NM_015450.3(POT1):c.1734C>G (p.Asp578Glu)
|
rs1584746419
|
|
NM_015450.3(POT1):c.1734C>T (p.Asp578=)
|
rs1584746419
|
|
NM_015450.3(POT1):c.1735C>A (p.Leu579Ile)
|
|
|
NM_015450.3(POT1):c.1739A>G (p.Gln580Arg)
|
|
|
NM_015450.3(POT1):c.1746T>C (p.Ser582=)
|
rs1222395233
|
|
NM_015450.3(POT1):c.1746T>G (p.Ser582Arg)
|
rs1222395233
|
|
NM_015450.3(POT1):c.1748T>C (p.Val583Ala)
|
|
|
NM_015450.3(POT1):c.1751A>C (p.Asp584Ala)
|
|
|
NM_015450.3(POT1):c.1753A>G (p.Met585Val)
|
rs1794602691
|
|
NM_015450.3(POT1):c.1755G>A (p.Met585Ile)
|
|
|
NM_015450.3(POT1):c.1756A>G (p.Ile586Val)
|
rs1554415137
|
|
NM_015450.3(POT1):c.1758C>A (p.Ile586=)
|
|
|
NM_015450.3(POT1):c.1758C>T (p.Ile586=)
|
|
|
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.1771T>C (p.Cys591Arg)
|
|
|
NM_015450.3(POT1):c.1775C>G (p.Pro592Arg)
|
|
|
NM_015450.3(POT1):c.1775C>T (p.Pro592Leu)
|
rs1436064065
|
|
NM_015450.3(POT1):c.1777C>T (p.Pro593Ser)
|
|
|
NM_015450.3(POT1):c.177C>A (p.Cys59Ter)
|
|
|
NM_015450.3(POT1):c.177C>T (p.Cys59=)
|
|
|
NM_015450.3(POT1):c.1781_1782del (p.Gly594fs)
|
rs1562972380
|
|
NM_015450.3(POT1):c.1782A>G (p.Gly594=)
|
rs751661236
|
|
NM_015450.3(POT1):c.1783A>G (p.Ile595Val)
|
|
|
NM_015450.3(POT1):c.1785A>G (p.Ile595Met)
|
rs1794601418
|
|
NM_015450.3(POT1):c.1789A>T (p.Ile597Phe)
|
|
|
NM_015450.3(POT1):c.1792+1G>A
|
rs1562972354
|
|
NM_015450.3(POT1):c.1793-20TTTTGT[4]
|
rs746035349
|
|
NM_015450.3(POT1):c.1793-4G>A
|
|
|
NM_015450.3(POT1):c.1793-4G>C
|
|
|
NM_015450.3(POT1):c.1795G>T (p.Ala599Ser)
|
|
|
NM_015450.3(POT1):c.1796C>A (p.Ala599Glu)
|
|
|
NM_015450.3(POT1):c.1797A>C (p.Ala599=)
|
rs752430203
|
|
NM_015450.3(POT1):c.1799A>G (p.Tyr600Cys)
|
|
|
NM_015450.3(POT1):c.179T>G (p.Leu60Arg)
|
rs1584777805
|
|
NM_015450.3(POT1):c.17C>A (p.Ala6Glu)
|
|
|
NM_015450.3(POT1):c.1800T>C (p.Tyr600=)
|
|
|
NM_015450.3(POT1):c.1801C>A (p.Pro601Thr)
|
rs1584745610
|
|
NM_015450.3(POT1):c.1801C>T (p.Pro601Ser)
|
rs1584745610
|
|
NM_015450.3(POT1):c.1802C>T (p.Pro601Leu)
|
rs779050803
|
|
NM_015450.3(POT1):c.1805G>T (p.Trp602Leu)
|
rs996577534
|
|
NM_015450.3(POT1):c.1809G>A (p.Leu603=)
|
rs1584745590
|
|
NM_015450.3(POT1):c.181_182delinsGAAACTATGAAGTTTCTTTAGTTTAAA (p.Leu61delinsGluThrMetLysPheLeuTer)
|
rs1584777802
|
|
NM_015450.3(POT1):c.1823A>G (p.Lys608Arg)
|
|
|
NM_015450.3(POT1):c.1827A>G (p.Ser609=)
|
|
|
NM_015450.3(POT1):c.1829A>G (p.Tyr610Cys)
|
rs1363813360
|
|
NM_015450.3(POT1):c.1830C>T (p.Tyr610=)
|
rs2116403498
|
|
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.183C>G (p.Leu61=)
|
rs1455799309
|
|
NM_015450.3(POT1):c.1842T>C (p.Asn614=)
|
|
|
NM_015450.3(POT1):c.1850A>C (p.Asp617Ala)
|
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.185T>G (p.Phe62Cys)
|
|
|
NM_015450.3(POT1):c.1860T>G (p.Ile620Met)
|
rs1584745529
|
|
NM_015450.3(POT1):c.1863C>T (p.Cys621=)
|
rs2116403353
|
|
NM_015450.3(POT1):c.1869G>A (p.Gln623=)
|
rs587777478
|
|
NM_015450.3(POT1):c.1869_1877delinsAATTTTGG (p.Phe625fs)
|
rs1584745506
|
|
NM_015450.3(POT1):c.1872T>A (p.Ile624=)
|
|
|
NM_015450.3(POT1):c.1872T>G (p.Ile624Met)
|
rs1794569508
|
|
NM_015450.3(POT1):c.1875T>G (p.Phe625Leu)
|
|
|
NM_015450.3(POT1):c.1881C>A (p.Thr627=)
|
rs1584745500
|
|
NM_015450.3(POT1):c.1884del (p.Val629fs)
|
|
|
NM_015450.3(POT1):c.188G>C (p.Ser63Thr)
|
rs1584777788
|
|
NM_015450.3(POT1):c.1890A>G (p.Ala630=)
|
|
|
NM_015450.3(POT1):c.1891G>A (p.Glu631Lys)
|
rs1584745486
|
|
NM_015450.3(POT1):c.1895A>G (p.Asp632Gly)
|
|
|
NM_015450.3(POT1):c.1896T>C (p.Asp632=)
|
|
|
NM_015450.3(POT1):c.1897G>T (p.Val633Leu)
|
|
|
NM_015450.3(POT1):c.1898del (p.Val633fs)
|
|
|
NM_015450.3(POT1):c.189T>C (p.Ser63=)
|
|
|
NM_015450.3(POT1):c.191G>A (p.Gly64Glu)
|
|
|
NM_015450.3(POT1):c.195C>A (p.Asn65Lys)
|
rs1584777781
|
|
NM_015450.3(POT1):c.1A>G (p.Met1Val)
|
rs1584510207
|
|
NM_015450.3(POT1):c.202G>A (p.Ala68Thr)
|
|
|
NM_015450.3(POT1):c.205C>T (p.Leu69Phe)
|
rs905571705
|
|
NM_015450.3(POT1):c.208C>T (p.Pro70Ser)
|
|
|
NM_015450.3(POT1):c.20C>A (p.Thr7Lys)
|
|
|
NM_015450.3(POT1):c.210A>G (p.Pro70=)
|
|
|
NM_015450.3(POT1):c.213A>C (p.Ile71=)
|
|
|
NM_015450.3(POT1):c.214A>G (p.Ile72Val)
|
|
|
NM_015450.3(POT1):c.223A>C (p.Asn75His)
|
|
|
NM_015450.3(POT1):c.226G>A (p.Gly76Arg)
|
rs1584777738
|
|
NM_015450.3(POT1):c.230A>G (p.Asp77Gly)
|
rs1795852217
|
|
NM_015450.3(POT1):c.232A>G (p.Ile78Val)
|
|
|
NM_015450.3(POT1):c.234T>A (p.Ile78=)
|
rs1554429191
|
|
NM_015450.3(POT1):c.235G>A (p.Val79Ile)
|
|
|
NM_015450.3(POT1):c.24T>G (p.Asn8Lys)
|
|
|
NM_015450.3(POT1):c.250C>T (p.Leu84=)
|
|
|
NM_015450.3(POT1):c.252G>A (p.Leu84=)
|
rs1584777703
|
|
NM_015450.3(POT1):c.253A>G (p.Lys85Glu)
|
|
|
NM_015450.3(POT1):c.254dup (p.Ile86fs)
|
|
|
NM_015450.3(POT1):c.255+1G>A
|
rs1584777699
|
|
NM_015450.3(POT1):c.255+1G>T
|
rs1584777699
|
|
NM_015450.3(POT1):c.255+5A>G
|
rs1584777694
|
|
NM_015450.3(POT1):c.255G>A (p.Lys85=)
|
rs747851551
|
|
NM_015450.3(POT1):c.256-3T>C
|
rs760801846
|
|
NM_015450.3(POT1):c.256-5C>A
|
|
|
NM_015450.3(POT1):c.260A>G (p.Gln87Arg)
|
|
|
NM_015450.3(POT1):c.261A>G (p.Gln87=)
|
|
|
NM_015450.3(POT1):c.266A>G (p.Tyr89Cys)
|
rs587777472
|
|
NM_015450.3(POT1):c.270A>G (p.Lys90=)
|
rs1795653104
|
|
NM_015450.3(POT1):c.279_280del (p.Gln94fs)
|
rs2116542675
|
|
NM_015450.3(POT1):c.27T>C (p.Tyr9=)
|
|
|
NM_015450.3(POT1):c.282G>C (p.Gln94His)
|
rs948259490
|
|
NM_015450.3(POT1):c.286A>T (p.Ile96Phe)
|
|
|
NM_015450.3(POT1):c.28A>C (p.Ile10Leu)
|
rs1584792042
|
|
NM_015450.3(POT1):c.295T>C (p.Ser99Pro)
|
|
|
NM_015450.3(POT1):c.297T>C (p.Ser99=)
|
|
|
NM_015450.3(POT1):c.2dup (p.Met1fs)
|
|
|
NM_015450.3(POT1):c.308C>G (p.Ser103Cys)
|
|
|
NM_015450.3(POT1):c.314C>T (p.Thr105Met)
|
rs1554426994
|
|
NM_015450.3(POT1):c.318del (p.Phe106fs)
|
|
|
NM_015450.3(POT1):c.320A>C (p.Glu107Ala)
|
|
|
NM_015450.3(POT1):c.323G>A (p.Gly108Glu)
|
rs1290433563
|
|
NM_015450.3(POT1):c.334G>A (p.Ala112Thr)
|
|
|
NM_015450.3(POT1):c.336C>A (p.Ala112=)
|
rs1584773064
|
|
NM_015450.3(POT1):c.339T>C (p.Pro113=)
|
|
|
NM_015450.3(POT1):c.33T>C (p.Tyr11=)
|
|
|
NM_015450.3(POT1):c.33_34dup (p.Thr12fs)
|
|
|
NM_015450.3(POT1):c.342C>T (p.Ile114=)
|
rs989904335
|
|
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>T (p.Arg117Cys)
|
rs780936436
|
|
NM_015450.3(POT1):c.34A>G (p.Thr12Ala)
|
|
|
NM_015450.3(POT1):c.350G>A (p.Arg117His)
|
rs1385542313
|
|
NM_015450.3(POT1):c.352A>G (p.Thr118Ala)
|
|
|
NM_015450.3(POT1):c.355T>C (p.Ser119Pro)
|
|
|
NM_015450.3(POT1):c.359G>C (p.Ser120Thr)
|
|
|
NM_015450.3(POT1):c.360C>A (p.Ser120Arg)
|
|
|
NM_015450.3(POT1):c.363G>A (p.Lys121=)
|
|
|
NM_015450.3(POT1):c.375C>T (p.Phe125=)
|
rs1584773021
|
|
NM_015450.3(POT1):c.376A>G (p.Thr126Ala)
|
|
|
NM_015450.3(POT1):c.37C>T (p.Pro13Ser)
|
rs1584792028
|
|
NM_015450.3(POT1):c.384G>A (p.Glu128=)
|
|
|
NM_015450.3(POT1):c.385G>A (p.Asp129Asn)
|
rs1795649242
|
|
NM_015450.3(POT1):c.388C>T (p.His130Tyr)
|
rs1554426951
|
|
NM_015450.3(POT1):c.390C>T (p.His130=)
|
|
|
NM_015450.3(POT1):c.403G>A (p.Ala135Thr)
|
|
|
NM_015450.3(POT1):c.410G>T (p.Arg137Leu)
|
|
|
NM_015450.3(POT1):c.415T>G (p.Trp139Gly)
|
|
|
NM_015450.3(POT1):c.42G>T (p.Leu14=)
|
rs1584792022
|
|
NM_015450.3(POT1):c.432G>A (p.Met144Ile)
|
|
|
NM_015450.3(POT1):c.437C>T (p.Pro146Leu)
|
rs1554426915
|
|
NM_015450.3(POT1):c.438G>T (p.Pro146=)
|
|
|
NM_015450.3(POT1):c.441T>A (p.Ser147=)
|
|
|
NM_015450.3(POT1):c.441T>C (p.Ser147=)
|
rs760889677
|
|
NM_015450.3(POT1):c.446C>T (p.Thr149Ile)
|
|
|
NM_015450.3(POT1):c.461G>A (p.Cys154Tyr)
|
|
|
NM_015450.3(POT1):c.463G>A (p.Asp155Asn)
|
rs1562993312
|
|
NM_015450.3(POT1):c.463G>C (p.Asp155His)
|
|
|
NM_015450.3(POT1):c.466G>A (p.Val156Ile)
|
rs1795646926
|
|
NM_015450.3(POT1):c.46C>A (p.Gln16Lys)
|
|
|
NM_015450.3(POT1):c.479A>G (p.Gln160Arg)
|
rs1584772936
|
|
NM_015450.3(POT1):c.480G>A (p.Gln160=)
|
rs2116541535
|
|
NM_015450.3(POT1):c.483T>G (p.Tyr161Ter)
|
|
|
NM_015450.3(POT1):c.486T>C (p.Phe162=)
|
|
|
NM_015450.3(POT1):c.490C>G (p.Leu164Val)
|
|
|
NM_015450.3(POT1):c.492G>C (p.Leu164=)
|
|
|
NM_015450.3(POT1):c.495T>G (p.Thr165=)
|
|
|
NM_015450.3(POT1):c.499C>T (p.Gln167Ter)
|
|
|
NM_015450.3(POT1):c.4T>A (p.Ser2Thr)
|
|
|
NM_015450.3(POT1):c.505T>C (p.Leu169=)
|
|
|
NM_015450.3(POT1):c.508G>A (p.Gly170Ser)
|
rs1584772921
|
|
NM_015450.3(POT1):c.515C>G (p.Ala172Gly)
|
|
|
NM_015450.3(POT1):c.515C>T (p.Ala172Val)
|
|
|
NM_015450.3(POT1):c.516A>C (p.Ala172=)
|
|
|
NM_015450.3(POT1):c.516A>G (p.Ala172=)
|
rs767849387
|
|
NM_015450.3(POT1):c.51T>A (p.Leu17=)
|
|
|
NM_015450.3(POT1):c.51T>G (p.Leu17=)
|
|
|
NM_015450.3(POT1):c.527G>A (p.Gly176Glu)
|
|
|
NM_015450.3(POT1):c.527G>C (p.Gly176Ala)
|
|
|
NM_015450.3(POT1):c.529G>A (p.Ala177Thr)
|
rs1795645494
|
|
NM_015450.3(POT1):c.531A>G (p.Ala177=)
|
|
|
NM_015450.3(POT1):c.533C>T (p.Ser178Leu)
|
rs1584772907
|
|
NM_015450.3(POT1):c.534A>G (p.Ser178=)
|
rs146150652
|
|
NM_015450.3(POT1):c.534A>T (p.Ser178=)
|
|
|
NM_015450.3(POT1):c.53A>G (p.Lys18Arg)
|
rs1584792012
|
|
NM_015450.3(POT1):c.541C>T (p.Leu181=)
|
|
|
NM_015450.3(POT1):c.546+2T>C
|
|
|
NM_015450.3(POT1):c.546+3A>G
|
|
|
NM_015450.3(POT1):c.546+4C>A
|
rs1795644961
|
|
NM_015450.3(POT1):c.547-3C>T
|
rs770890978
|
|
NM_015450.3(POT1):c.547G>C (p.Val183Leu)
|
|
|
NM_015450.3(POT1):c.54G>A (p.Lys18=)
|
|
|
NM_015450.3(POT1):c.550T>C (p.Trp184Arg)
|
rs2116526752
|
|
NM_015450.3(POT1):c.552G>A (p.Trp184Ter)
|
rs1202302799
|
|
NM_015450.3(POT1):c.558C>A (p.Gly186=)
|
|
|
NM_015450.3(POT1):c.558C>T (p.Gly186=)
|
rs751607119
|
|
NM_015450.3(POT1):c.559A>G (p.Thr187Ala)
|
rs1562990976
|
|
NM_015450.3(POT1):c.56G>A (p.Gly19Asp)
|
|
|
NM_015450.3(POT1):c.56G>T (p.Gly19Val)
|
|
|
NM_015450.3(POT1):c.570A>G (p.Pro190=)
|
rs1584769931
|
|
NM_015450.3(POT1):c.571T>C (p.Phe191Leu)
|
|
|
NM_015450.3(POT1):c.575C>T (p.Pro192Leu)
|
|
|
NM_015450.3(POT1):c.577T>C (p.Ser193Pro)
|
rs752854457
|
|
NM_015450.3(POT1):c.579T>C (p.Ser193=)
|
|
|
NM_015450.3(POT1):c.579T>G (p.Ser193=)
|
rs1308025357
|
|
NM_015450.3(POT1):c.580T>G (p.Trp194Gly)
|
|
|
NM_015450.3(POT1):c.586G>A (p.Val196Ile)
|
|
|
NM_015450.3(POT1):c.58G>T (p.Gly20Cys)
|
rs1796391890
|
|
NM_015450.3(POT1):c.591A>G (p.Leu197=)
|
|
|
NM_015450.3(POT1):c.592A>C (p.Ile198Leu)
|
rs1554425771
|
|
NM_015450.3(POT1):c.598G>A (p.Asp200Asn)
|
rs764943552
|
|
NM_015450.3(POT1):c.601C>G (p.Leu201Val)
|
rs2116526207
|
|
NM_015450.3(POT1):c.609T>C (p.Leu203=)
|
|
|
NM_015450.3(POT1):c.617A>G (p.Asp206Gly)
|
rs1562990934
|
|
NM_015450.3(POT1):c.618T>C (p.Asp206=)
|
rs1170213047
|
|
NM_015450.3(POT1):c.619T>A (p.Leu207Ile)
|
|
|
NM_015450.3(POT1):c.626A>T (p.His209Leu)
|
|
|
NM_015450.3(POT1):c.631dup (p.His211fs)
|
rs2116525878
|
|
NM_015450.3(POT1):c.634C>T (p.Arg212Trp)
|
rs1444551164
|
|
NM_015450.3(POT1):c.636G>C (p.Arg212=)
|
rs1554425745
|
|
NM_015450.3(POT1):c.642A>G (p.Gln214=)
|
rs1479799328
|
|
NM_015450.3(POT1):c.644A>C (p.Asn215Thr)
|
rs1795516349
|
|
NM_015450.3(POT1):c.649A>T (p.Thr217Ser)
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NM_015450.3(POT1):c.650C>A (p.Thr217Lys)
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NM_015450.3(POT1):c.652A>G (p.Ile218Val)
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rs1795515981
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NM_015450.3(POT1):c.655G>T (p.Asp219Tyr)
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NM_015450.3(POT1):c.664G>A (p.Val222Ile)
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NM_015450.3(POT1):c.667T>C (p.Tyr223His)
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NM_015450.3(POT1):c.668A>G (p.Tyr223Cys)
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rs1795515617
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NM_015450.3(POT1):c.671A>G (p.Asp224Gly)
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rs1584769825
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NM_015450.3(POT1):c.674A>G (p.Asn225Ser)
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NM_015450.3(POT1):c.675C>A (p.Asn225Lys)
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rs1050055964
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NM_015450.3(POT1):c.676C>T (p.His226Tyr)
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NM_015450.3(POT1):c.677A>G (p.His226Arg)
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rs2116525298
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NM_015450.3(POT1):c.678T>C (p.His226=)
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NM_015450.3(POT1):c.690A>G (p.Ala230=)
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NM_015450.3(POT1):c.691del (p.Arg231fs)
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NM_015450.3(POT1):c.692G>A (p.Arg231Lys)
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NM_015450.3(POT1):c.693A>T (p.Arg231Ser)
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rs1795514618
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NM_015450.3(POT1):c.702+1G>A
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rs2116525031
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NM_015450.3(POT1):c.702+5T>C
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rs1370505940
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NM_015450.3(POT1):c.703-3T>G
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rs1584765787
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NM_015450.3(POT1):c.703-3del
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rs1584765789
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NM_015450.3(POT1):c.703G>T (p.Val235Phe)
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NM_015450.3(POT1):c.704T>C (p.Val235Ala)
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NM_015450.3(POT1):c.708A>G (p.Gly236=)
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NM_015450.3(POT1):c.711C>T (p.Ser237=)
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rs1455456209
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NM_015450.3(POT1):c.721A>G (p.Ile241Val)
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NM_015450.3(POT1):c.723C>G (p.Ile241Met)
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NM_015450.3(POT1):c.723C>T (p.Ile241=)
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rs371599223
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NM_015450.3(POT1):c.729C>T (p.Ser243=)
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rs2116505184
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NM_015450.3(POT1):c.740A>G (p.Lys247Arg)
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rs1795354672
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NM_015450.3(POT1):c.741A>G (p.Lys247=)
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rs2116505118
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NM_015450.3(POT1):c.753G>T (p.Met251Ile)
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NM_015450.3(POT1):c.755A>G (p.Asn252Ser)
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NM_015450.3(POT1):c.759A>G (p.Ser253=)
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NM_015450.3(POT1):c.75C>A (p.Val25=)
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NM_015450.3(POT1):c.762G>A (p.Glu254=)
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NM_015450.3(POT1):c.773T>C (p.Met258Thr)
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rs1584765693
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NM_015450.3(POT1):c.779G>A (p.Ser260Asn)
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rs1323715274
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NM_015450.3(POT1):c.780T>C (p.Ser260=)
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NM_015450.3(POT1):c.790C>G (p.His264Asp)
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NM_015450.3(POT1):c.793C>G (p.Leu265Val)
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NM_015450.3(POT1):c.797A>G (p.His266Arg)
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rs1584765678
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NM_015450.3(POT1):c.798T>C (p.His266=)
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NM_015450.3(POT1):c.79G>C (p.Gly27Arg)
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rs1584791977
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NM_015450.3(POT1):c.7T>C (p.Leu3=)
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rs1584510203
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NM_015450.3(POT1):c.800G>A (p.Gly267Glu)
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rs2116504781
|
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NM_015450.3(POT1):c.801A>G (p.Gly267=)
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rs1554423995
|
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NM_015450.3(POT1):c.806C>G (p.Thr269Ser)
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|
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NM_015450.3(POT1):c.809G>A (p.Ser270Asn)
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rs587777477
|
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NM_015450.3(POT1):c.814G>C (p.Gly272Arg)
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NM_015450.3(POT1):c.817C>T (p.Arg273Trp)
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rs1554423983
|
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NM_015450.3(POT1):c.818G>A (p.Arg273Gln)
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rs587777476
|
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NM_015450.3(POT1):c.823A>G (p.Ile275Val)
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rs1584765612
|
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NM_015450.3(POT1):c.826A>G (p.Arg276Gly)
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rs2116504536
|
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NM_015450.3(POT1):c.828G>T (p.Arg276Ser)
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rs76496261
|
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NM_015450.3(POT1):c.831C>A (p.Val277=)
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rs2116504500
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NM_015450.3(POT1):c.834G>C (p.Leu278Phe)
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NM_015450.3(POT1):c.834G>T (p.Leu278Phe)
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rs754958636
|
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NM_015450.3(POT1):c.837A>G (p.Pro279=)
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rs749530809
|
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NM_015450.3(POT1):c.839A>G (p.Glu280Gly)
|
rs1562987653
|
|
NM_015450.3(POT1):c.847T>G (p.Ser283Ala)
|
rs1584765580
|
|
NM_015450.3(POT1):c.848_849del (p.Asn282_Ser283insTer)
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|
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NM_015450.3(POT1):c.856G>A (p.Asp286Asn)
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rs1460322063
|
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NM_015450.3(POT1):c.85G>C (p.Val29Leu)
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|
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NM_015450.3(POT1):c.865A>G (p.Lys289Glu)
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|
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NM_015450.3(POT1):c.869+4del
|
rs1445280218
|
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NM_015450.3(POT1):c.870-4A>G
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rs2116501208
|
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NM_015450.3(POT1):c.870-4A>T
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NM_015450.3(POT1):c.870-57_882dup
|
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NM_015450.3(POT1):c.871G>A (p.Asp291Asn)
|
|
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NM_015450.3(POT1):c.87G>C (p.Val29=)
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rs1481759760
|
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NM_015450.3(POT1):c.882T>C (p.Ser294=)
|
rs1584764961
|
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NM_015450.3(POT1):c.882T>G (p.Ser294=)
|
|
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NM_015450.3(POT1):c.883G>C (p.Ala295Pro)
|
rs1584764955
|
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NM_015450.3(POT1):c.885A>T (p.Ala295=)
|
rs1584764945
|
|
NM_015450.3(POT1):c.887del (p.Asn296fs)
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|
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NM_015450.3(POT1):c.894A>G (p.Thr298=)
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|
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NM_015450.3(POT1):c.895G>A (p.Ala299Thr)
|
rs149273459
|
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NM_015450.3(POT1):c.898A>G (p.Asn300Asp)
|
|
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NM_015450.3(POT1):c.9+1G>A
|
|
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NM_015450.3(POT1):c.9+3A>G
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rs372320290
|
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NM_015450.3(POT1):c.9+4_9+6del
|
rs1442340607
|
|
NM_015450.3(POT1):c.902A>G (p.Gln301Arg)
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|
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NM_015450.3(POT1):c.905A>G (p.His302Arg)
|
|
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NM_015450.3(POT1):c.908C>T (p.Ser303Leu)
|
rs1795316757
|
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NM_015450.3(POT1):c.90G>A (p.Lys30=)
|
|
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NM_015450.3(POT1):c.923A>T (p.Gln308Leu)
|
|
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NM_015450.3(POT1):c.925T>C (p.Ser309Pro)
|
rs1584764901
|
|
NM_015450.3(POT1):c.92T>G (p.Phe31Cys)
|
|
|
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.940A>G (p.Ser314Gly)
|
|
|
NM_015450.3(POT1):c.945T>C (p.Phe315=)
|
|
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NM_015450.3(POT1):c.949+4A>G
|
|
|
NM_015450.3(POT1):c.949A>C (p.Ser317Arg)
|
rs1554423487
|
|
NM_015450.3(POT1):c.949A>G (p.Ser317Gly)
|
rs1554423487
|
|
NM_015450.3(POT1):c.950-1G>A
|
|
|
NM_015450.3(POT1):c.950G>A (p.Ser317Asn)
|
|
|
NM_015450.3(POT1):c.954_955dup (p.Gly319fs)
|
|
|
NM_015450.3(POT1):c.957A>T (p.Gly319=)
|
rs1301910586
|
|
NM_015450.3(POT1):c.966A>G (p.Ser322=)
|
rs1350554685
|
|
NM_015450.3(POT1):c.970T>G (p.Tyr324Asp)
|
|
|
NM_015450.3(POT1):c.973G>A (p.Glu325Lys)
|
rs1554421987
|
|
NM_015450.3(POT1):c.975G>A (p.Glu325=)
|
|
|
NM_015450.3(POT1):c.976G>A (p.Val326Ile)
|
rs1407472208
|
|
NM_015450.3(POT1):c.976G>C (p.Val326Leu)
|
|
|
NM_015450.3(POT1):c.982A>G (p.Arg328Gly)
|
rs1795184644
|
|
NM_015450.3(POT1):c.984A>G (p.Arg328=)
|
|
|
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.989A>G (p.Gln330Arg)
|
rs2116483950
|
|
NM_015450.3(POT1):c.98A>C (p.Lys33Thr)
|
|
|
NM_015450.3(POT1):c.995T>C (p.Leu332Pro)
|
|
|
NM_015450.3(POT1):c.99G>T (p.Lys33Asn)
|
|
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