ClinVar Miner

List of variants in gene POT1

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 635
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HGVS dbSNP
GRCh38/hg38 7q31.33(chr7:124967179-125033187)x1
NC_000007.13:g.(?_124464010)_(124499172_?)dup
NC_000007.14:g.(?_124823952)_(124871051_?)dup
NC_000007.14:g.(?_124823952)_(124897183_?)del
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.(?_124840963)_(124853148_?)del
NC_000007.14:g.(?_124846932)_(124847008_?)del
NC_000007.14:g.(?_124852966)_(124853144_?)del
NC_000007.14:g.(?_124863340)_(124863650_?)del
NC_000007.14:g.(?_124870905)_(124897179_?)del
NC_000007.14:g.(?_124892256)_(124892390_?)del
NC_000007.14:g.(?_124892256)_(124897173_?)del
NC_000007.14:g.(?_124892256)_(124897183_?)dup
NC_000007.14:g.124898104dup rs201066236
NC_000007.14:g.124898383del rs57468586
NM_015450.3(POT1):c.*1507A>G rs537858943
NM_015450.3(POT1):c.-153-187G>A rs33964002
NM_015450.3(POT1):c.-227+159T>C rs12706628
NM_015450.3(POT1):c.-304C>A rs139838633
NM_015450.3(POT1):c.-39-15_-39-12del rs199955944
NM_015450.3(POT1):c.-39-210T>G rs67585224
NM_015450.3(POT1):c.-40+162G>T rs74429678
NM_015450.3(POT1):c.10-1G>A rs976603098
NM_015450.3(POT1):c.10-2A>C rs1554434788
NM_015450.3(POT1):c.1006+16A>G rs7794637
NM_015450.3(POT1):c.1006+2T>C
NM_015450.3(POT1):c.1006+4A>G
NM_015450.3(POT1):c.1006+9A>G rs757922302
NM_015450.3(POT1):c.1006+9_1006+10del rs764472102
NM_015450.3(POT1):c.1007-1G>A rs1584758519
NM_015450.3(POT1):c.1007-205A>G rs7801661
NM_015450.3(POT1):c.1007-2_1009del rs754005964
NM_015450.3(POT1):c.1007-4A>G rs1361371744
NM_015450.3(POT1):c.1007-5T>C rs1584758541
NM_015450.3(POT1):c.1007-8C>A
NM_015450.3(POT1):c.1007-8C>T rs375482256
NM_015450.3(POT1):c.1013C>T (p.Thr338Ile) rs1562981991
NM_015450.3(POT1):c.1014A>T (p.Thr338=) rs1554420707
NM_015450.3(POT1):c.101C>G (p.Pro34Arg)
NM_015450.3(POT1):c.1021C>G (p.Gln341Glu) rs767757297
NM_015450.3(POT1):c.1022A>G (p.Gln341Arg) rs554325914
NM_015450.3(POT1):c.1023G>A (p.Gln341=) rs147003926
NM_015450.3(POT1):c.1030G>A (p.Glu344Lys) rs951589289
NM_015450.3(POT1):c.1032G>A (p.Glu344=) rs1490433224
NM_015450.3(POT1):c.1035G>A (p.Arg345=) rs1426607411
NM_015450.3(POT1):c.1050C>T (p.Ala350=) rs1199499328
NM_015450.3(POT1):c.1065dup (p.Ala356fs)
NM_015450.3(POT1):c.1067C>T (p.Ala356Val) rs1342019926
NM_015450.3(POT1):c.1069C>G (p.Pro357Ala) rs748578303
NM_015450.3(POT1):c.1070C>T (p.Pro357Leu)
NM_015450.3(POT1):c.1071del (p.Gln358fs) rs1562981913
NM_015450.3(POT1):c.1071dup (p.Gln358fs) rs750470470
NM_015450.3(POT1):c.1072C>G (p.Gln358Glu)
NM_015450.3(POT1):c.1072C>T (p.Gln358Ter)
NM_015450.3(POT1):c.1072_1074CAA[1] (p.Gln359del) rs1461765375
NM_015450.3(POT1):c.1074A>G (p.Gln358=) rs779435986
NM_015450.3(POT1):c.1077A>G (p.Gln359=) rs539321499
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.1081C>T (p.Arg361Cys) rs372317646
NM_015450.3(POT1):c.1082G>A (p.Arg361His) rs778352298
NM_015450.3(POT1):c.1082G>T (p.Arg361Leu)
NM_015450.3(POT1):c.1084A>G (p.Ile362Val) rs1460433561
NM_015450.3(POT1):c.1087C>T (p.Arg363Ter) rs756198077
NM_015450.3(POT1):c.1088G>A (p.Arg363Gln)
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.1104A>G (p.Ser368=) rs1381478448
NM_015450.3(POT1):c.1106A>G (p.Tyr369Cys) rs763905854
NM_015450.3(POT1):c.1107T>C (p.Tyr369=) rs762686878
NM_015450.3(POT1):c.1116A>G (p.Arg372=) rs1249442758
NM_015450.3(POT1):c.1120C>T (p.Leu374=) rs148091643
NM_015450.3(POT1):c.1122A>C (p.Leu374=) rs143283657
NM_015450.3(POT1):c.1123T>A (p.Phe375Ile) rs1562981806
NM_015450.3(POT1):c.1127A>G (p.Gln376Arg) rs143635917
NM_015450.3(POT1):c.1130C>G (p.Ser377Cys)
NM_015450.3(POT1):c.113G>A (p.Ser38Asn)
NM_015450.3(POT1):c.1142A>G (p.His381Arg) rs1342448188
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.1147_1151del (p.Pro383fs) rs1554420583
NM_015450.3(POT1):c.114C>G (p.Ser38Arg) rs1554434730
NM_015450.3(POT1):c.1156C>A (p.His386Asn) rs1168740597
NM_015450.3(POT1):c.1156C>G (p.His386Asp)
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
NM_015450.3(POT1):c.1163+5G>A rs1584758333
NM_015450.3(POT1):c.1164-10A>G rs1554420179
NM_015450.3(POT1):c.1164-13C>T rs3815221
NM_015450.3(POT1):c.1164-171A>T rs4731221
NM_015450.3(POT1):c.1164-188A>T rs4728010
NM_015450.3(POT1):c.1164-1G>A rs866612394
NM_015450.3(POT1):c.1164-3T>C
NM_015450.3(POT1):c.1164-4T>G rs1584757391
NM_015450.3(POT1):c.1164-7A>C rs1554420177
NM_015450.3(POT1):c.1164G>T (p.Leu388=)
NM_015450.3(POT1):c.1168G>A (p.Glu390Lys) rs769997937
NM_015450.3(POT1):c.1178A>C (p.His393Pro)
NM_015450.3(POT1):c.1178A>G (p.His393Arg) rs746416077
NM_015450.3(POT1):c.1181A>G (p.Glu394Gly) rs781625332
NM_015450.3(POT1):c.1183G>A (p.Gly395Ser) rs757373061
NM_015450.3(POT1):c.1184G>A (p.Gly395Asp) rs1584757364
NM_015450.3(POT1):c.1185C>T (p.Gly395=) rs538385307
NM_015450.3(POT1):c.1186G>A (p.Asp396Asn) rs148956533
NM_015450.3(POT1):c.1187A>G (p.Asp396Gly) rs1584757355
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.1207G>A (p.Asp403Asn)
NM_015450.3(POT1):c.120_124+1del
NM_015450.3(POT1):c.1211G>T (p.Gly404Val) rs35536751
NM_015450.3(POT1):c.1213G>A (p.Ala405Thr) rs753851042
NM_015450.3(POT1):c.1214C>T (p.Ala405Val) rs904242272
NM_015450.3(POT1):c.1217C>T (p.Thr406Ile) rs143841721
NM_015450.3(POT1):c.1225C>T (p.Pro409Ser)
NM_015450.3(POT1):c.1227A>C (p.Pro409=) rs552835784
NM_015450.3(POT1):c.1228G>C (p.Asp410His) 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)
NM_015450.3(POT1):c.1233C>T (p.Val411=) rs376273583
NM_015450.3(POT1):c.123T>C (p.Thr41=)
NM_015450.3(POT1):c.124+1G>C rs1563008413
NM_015450.3(POT1):c.124+5G>T rs1027069149
NM_015450.3(POT1):c.124+7A>G rs769945908
NM_015450.3(POT1):c.1247C>T (p.Thr416Ile)
NM_015450.3(POT1):c.125-2A>G rs1562997292
NM_015450.3(POT1):c.125-3C>A
NM_015450.3(POT1):c.125-3del rs1584777876
NM_015450.3(POT1):c.1251A>G (p.Ser417=) rs1554420121
NM_015450.3(POT1):c.1255T>C (p.Tyr419His)
NM_015450.3(POT1):c.1256A>G (p.Tyr419Cys) rs770213689
NM_015450.3(POT1):c.1257T>C (p.Tyr419=) rs1584757255
NM_015450.3(POT1):c.1258G>T (p.Asp420Tyr)
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.1260T>C (p.Asp420=) rs933280158
NM_015450.3(POT1):c.1262C>T (p.Ser421Leu) rs1413163992
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.1280A>C (p.Lys427Thr) rs1187946222
NM_015450.3(POT1):c.1283A>G (p.Asn428Ser) rs747149913
NM_015450.3(POT1):c.1284T>A (p.Asn428Lys)
NM_015450.3(POT1):c.1284T>C (p.Asn428=) rs141341950
NM_015450.3(POT1):c.1285C>A (p.Gln429Lys) rs1584757207
NM_015450.3(POT1):c.1287A>C (p.Gln429His) rs777842421
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.1294C>T (p.Arg432Ter) rs758341603
NM_015450.3(POT1):c.1295G>A (p.Arg432Gln) rs772590775
NM_015450.3(POT1):c.1300G>C (p.Val434Leu)
NM_015450.3(POT1):c.1300del (p.Lys433_Val434insTer)
NM_015450.3(POT1):c.1303G>A (p.Ala435Thr) rs567021227
NM_015450.3(POT1):c.1304_1306del (p.Ala435del)
NM_015450.3(POT1):c.1305A>T (p.Ala435=) rs756111359
NM_015450.3(POT1):c.1305del (p.Val436fs) rs1584757180
NM_015450.3(POT1):c.130T>G (p.Cys44Gly)
NM_015450.3(POT1):c.1310A>G (p.His437Arg)
NM_015450.3(POT1):c.1315G>A (p.Val439Met) rs547000637
NM_015450.3(POT1):c.1315G>T (p.Val439Leu) rs547000637
NM_015450.3(POT1):c.131G>A (p.Cys44Tyr) rs1260027166
NM_015450.3(POT1):c.1322A>C (p.Asn441Thr) rs1477300313
NM_015450.3(POT1):c.1322A>G (p.Asn441Ser) rs1477300313
NM_015450.3(POT1):c.1333C>T (p.Leu445Phe) rs1416672170
NM_015450.3(POT1):c.1335C>T (p.Leu445=) rs1584757150
NM_015450.3(POT1):c.1337C>T (p.Pro446Leu)
NM_015450.3(POT1):c.1338G>A (p.Pro446=) rs185651210
NM_015450.3(POT1):c.1338G>T (p.Pro446=) rs185651210
NM_015450.3(POT1):c.133T>C (p.Ser45Pro)
NM_015450.3(POT1):c.1340T>A (p.Leu447His)
NM_015450.3(POT1):c.1340T>C (p.Leu447Pro)
NM_015450.3(POT1):c.1346A>G (p.Asn449Ser) rs1584757117
NM_015450.3(POT1):c.1348G>T (p.Glu450Ter) rs797045169
NM_015450.3(POT1):c.1359T>C (p.Leu453=) rs201869790
NM_015450.3(POT1):c.1360T>C (p.Leu454=) rs1554420018
NM_015450.3(POT1):c.1363A>G (p.Ile455Val) rs776965979
NM_015450.3(POT1):c.1367A>C (p.Glu456Ala) rs771226403
NM_015450.3(POT1):c.1369+10T>A rs773549874
NM_015450.3(POT1):c.1369+10T>C rs773549874
NM_015450.3(POT1):c.1369+158A>G rs3213667
NM_015450.3(POT1):c.1369+1_1369+5del
NM_015450.3(POT1):c.1369+6A>C rs1562980753
NM_015450.3(POT1):c.1369+6A>G
NM_015450.3(POT1):c.1370-150A>G rs141885512
NM_015450.3(POT1):c.1370-3C>G rs1584753403
NM_015450.3(POT1):c.1370-8C>T rs760977808
NM_015450.3(POT1):c.1370-8_1370-6del rs1158098049
NM_015450.3(POT1):c.1372G>A (p.Gly458Ser)
NM_015450.3(POT1):c.1381A>T (p.Ser461Cys) rs762019631
NM_015450.3(POT1):c.1393A>G (p.Lys465Glu) rs1246723310
NM_015450.3(POT1):c.1394A>G (p.Lys465Arg) rs369417655
NM_015450.3(POT1):c.13C>A (p.Pro5Thr)
NM_015450.3(POT1):c.1400C>A (p.Ser467Ter)
NM_015450.3(POT1):c.1400C>T (p.Ser467Leu) rs1410842025
NM_015450.3(POT1):c.1401G>A (p.Ser467=) rs775385144
NM_015450.3(POT1):c.1404C>G (p.Asn468Lys)
NM_015450.3(POT1):c.1407G>A (p.Lys469=) rs1584753348
NM_015450.3(POT1):c.1411A>C (p.Asn471His) rs1562977912
NM_015450.3(POT1):c.1411_1414delinsTTTTT (p.Asn471fs)
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.1416T>C (p.Ser472=) rs146643991
NM_015450.3(POT1):c.1416T>G (p.Ser472Arg) rs146643991
NM_015450.3(POT1):c.141A>G (p.Val47=) rs1056627672
NM_015450.3(POT1):c.1441G>A (p.Glu481Lys) rs200494750
NM_015450.3(POT1):c.1442A>G (p.Glu481Gly) rs548024862
NM_015450.3(POT1):c.145A>G (p.Ile49Val) rs1345686360
NM_015450.3(POT1):c.1474_1491del (p.Phe492_Thr497del) rs1554418234
NM_015450.3(POT1):c.147del (p.Ile49fs) rs1064794328
NM_015450.3(POT1):c.1481T>A (p.Ile494Lys) rs774858551
NM_015450.3(POT1):c.1481T>C (p.Ile494Thr) rs774858551
NM_015450.3(POT1):c.1482A>G (p.Ile494Met) rs764303246
NM_015450.3(POT1):c.1490C>A (p.Thr497Lys) rs879897044
NM_015450.3(POT1):c.1490C>T (p.Thr497Ile)
NM_015450.3(POT1):c.1492A>G (p.Ile498Val) rs367607560
NM_015450.3(POT1):c.1494A>G (p.Ile498Met)
NM_015450.3(POT1):c.1505+3A>G rs1227070716
NM_015450.3(POT1):c.1505+7_1505+8insTTTTC rs1584753220
NM_015450.3(POT1):c.1505+8G>A rs1364537881
NM_015450.3(POT1):c.1506-191C>T rs35184624
NM_015450.3(POT1):c.1516dup (p.Cys506fs) rs1584749232
NM_015450.3(POT1):c.1518T>A (p.Cys506Ter) rs1554416461
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.1531T>C (p.Ser511Pro) rs1584749215
NM_015450.3(POT1):c.1532C>T (p.Ser511Phe) rs1554416456
NM_015450.3(POT1):c.1534A>G (p.Ile512Val) rs1179111946
NM_015450.3(POT1):c.1536A>C (p.Ile512=) rs765347563
NM_015450.3(POT1):c.1536A>G (p.Ile512Met) rs765347563
NM_015450.3(POT1):c.1546A>G (p.Asn516Asp) rs1584749194
NM_015450.3(POT1):c.1551C>T (p.Ser517=) rs1447234373
NM_015450.3(POT1):c.1555G>A (p.Val519Ile) rs776873207
NM_015450.3(POT1):c.1555G>T (p.Val519Phe) rs776873207
NM_015450.3(POT1):c.1559A>G (p.Asp520Gly) rs1370868219
NM_015450.3(POT1):c.1562A>G (p.Lys521Arg) rs1482392861
NM_015450.3(POT1):c.1565C>T (p.Thr522Ile) rs754745002
NM_015450.3(POT1):c.1566A>G (p.Thr522=) rs746796357
NM_015450.3(POT1):c.1568C>G (p.Ser523Trp) rs139388603
NM_015450.3(POT1):c.1568C>T (p.Ser523Leu)
NM_015450.3(POT1):c.1569G>A (p.Ser523=) rs773176095
NM_015450.3(POT1):c.1572G>T (p.Trp524Cys)
NM_015450.3(POT1):c.1576C>T (p.Pro526Ser)
NM_015450.3(POT1):c.1578T>G (p.Pro526=) rs1584749147
NM_015450.3(POT1):c.1580C>T (p.Ser527Phe) rs1562974651
NM_015450.3(POT1):c.1585G>A (p.Val529Met) rs34973253
NM_015450.3(POT1):c.1590A>C (p.Ala530=) rs1482990952
NM_015450.3(POT1):c.1592_1594del (p.Glu531del)
NM_015450.3(POT1):c.1594+1G>A
NM_015450.3(POT1):c.1594+41T>A rs10263573
NM_015450.3(POT1):c.1594+6C>T rs1354299889
NM_015450.3(POT1):c.1594+7T>G rs754448010
NM_015450.3(POT1):c.1594G>C (p.Ala532Pro) rs537377921
NM_015450.3(POT1):c.1595-111A>G rs10244817
NM_015450.3(POT1):c.1595-17dup rs762511146
NM_015450.3(POT1):c.1595-5A>G rs1554415905
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.1606G>A (p.Val536Ile) rs1174783791
NM_015450.3(POT1):c.1607T>C (p.Val536Ala)
NM_015450.3(POT1):c.1610C>T (p.Pro537Leu)
NM_015450.3(POT1):c.1612C>G (p.Leu538Val) rs768610116
NM_015450.3(POT1):c.1614C>T (p.Leu538=) rs969018798
NM_015450.3(POT1):c.1616A>G (p.Gln539Arg)
NM_015450.3(POT1):c.1617A>T (p.Gln539His) rs973319258
NM_015450.3(POT1):c.161dup (p.Asn54fs) rs1554429205
NM_015450.3(POT1):c.1624T>C (p.Phe542Leu)
NM_015450.3(POT1):c.1630A>G (p.Met544Val) rs762424988
NM_015450.3(POT1):c.1639_1679dup (p.Met560delinsIleHisLeuMetMetGluGlnGluTyrTer)
NM_015450.3(POT1):c.1643T>C (p.Leu548Pro)
NM_015450.3(POT1):c.1648_1683dup (p.Asp550_Asp561dup) rs1584747723
NM_015450.3(POT1):c.1649A>G (p.Asp550Gly)
NM_015450.3(POT1):c.1653A>G (p.Gly551=) rs745543835
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.1664T>C (p.Leu555Pro) rs1584747751
NM_015450.3(POT1):c.1678A>G (p.Met560Val)
NM_015450.3(POT1):c.1685C>T (p.Ser562Phe) rs1554415832
NM_015450.3(POT1):c.1686+3A>C
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
NM_015450.3(POT1):c.1686+7A>G rs1584747716
NM_015450.3(POT1):c.1687-1G>A rs587777473
NM_015450.3(POT1):c.1687-5T>A rs35062732
NM_015450.3(POT1):c.1687-5T>G rs35062732
NM_015450.3(POT1):c.1687-6T>G
NM_015450.3(POT1):c.1687-98T>G rs10250202
NM_015450.3(POT1):c.1687-9A>G rs776461827
NM_015450.3(POT1):c.1702A>C (p.Ile568Leu)
NM_015450.3(POT1):c.1702A>G (p.Ile568Val) rs150719673
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.1707A>C (p.Pro569=) rs1218962425
NM_015450.3(POT1):c.170T>C (p.Leu57Pro) rs1584777819
NM_015450.3(POT1):c.1717G>A (p.Val573Ile)
NM_015450.3(POT1):c.1724T>C (p.Met575Thr)
NM_015450.3(POT1):c.1726G>A (p.Asp576Asn)
NM_015450.3(POT1):c.1729G>T (p.Asp577Tyr) rs764901825
NM_015450.3(POT1):c.1730A>G (p.Asp577Gly)
NM_015450.3(POT1):c.1733A>G (p.Asp578Gly)
NM_015450.3(POT1):c.1734C>G (p.Asp578Glu) rs1584746419
NM_015450.3(POT1):c.1741A>G (p.Lys581Glu)
NM_015450.3(POT1):c.1742A>G (p.Lys581Arg) rs201023336
NM_015450.3(POT1):c.1746T>C (p.Ser582=) rs1222395233
NM_015450.3(POT1):c.1756A>G (p.Ile586Val) rs1554415137
NM_015450.3(POT1):c.1757T>C (p.Ile586Thr)
NM_015450.3(POT1):c.1759A>G (p.Met587Val)
NM_015450.3(POT1):c.1760T>C (p.Met587Thr)
NM_015450.3(POT1):c.1763_1764AT[1] (p.Met589fs) rs771968149
NM_015450.3(POT1):c.1765A>G (p.Met589Val)
NM_015450.3(POT1):c.1766T>C (p.Met589Thr) rs1375637075
NM_015450.3(POT1):c.176G>T (p.Cys59Phe)
NM_015450.3(POT1):c.1779A>G (p.Pro593=) rs1584746381
NM_015450.3(POT1):c.1781G>A (p.Gly594Glu)
NM_015450.3(POT1):c.1781_1782del (p.Gly594fs) rs1562972380
NM_015450.3(POT1):c.1792+1G>A
NM_015450.3(POT1):c.1792+1G>T rs1562972354
NM_015450.3(POT1):c.1792+209T>A rs2301930
NM_015450.3(POT1):c.1793A>G (p.Asp598Gly)
NM_015450.3(POT1):c.1797A>G (p.Ala599=) rs752430203
NM_015450.3(POT1):c.179T>G (p.Leu60Arg) rs1584777805
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.1803G>A (p.Pro601=) rs754981355
NM_015450.3(POT1):c.1805G>A (p.Trp602Ter)
NM_015450.3(POT1):c.1807T>C (p.Leu603=) rs375110259
NM_015450.3(POT1):c.1810G>A (p.Glu604Lys) rs753762757
NM_015450.3(POT1):c.1812A>G (p.Glu604=) rs1584745582
NM_015450.3(POT1):c.1814G>C (p.Cys605Ser) rs766020213
NM_015450.3(POT1):c.1815C>T (p.Cys605=) rs760056377
NM_015450.3(POT1):c.1819A>G (p.Ile607Val) rs1554414706
NM_015450.3(POT1):c.181C>T (p.Leu61Phe)
NM_015450.3(POT1):c.181_182delinsGAAACTATGAAGTTTCTTTAGTTTAAA (p.Leu61delinsGluThrMetLysPheLeuTer) rs1584777802
NM_015450.3(POT1):c.1820T>C (p.Ile607Thr)
NM_015450.3(POT1):c.1829A>G (p.Tyr610Cys) rs1363813360
NM_015450.3(POT1):c.1832A>G (p.Asn611Ser) rs376707680
NM_015450.3(POT1):c.1834G>A (p.Val612Ile) rs1554414690
NM_015450.3(POT1):c.183C>T (p.Leu61=) rs1455799309
NM_015450.3(POT1):c.1841A>G (p.Asn614Ser) rs202024401
NM_015450.3(POT1):c.1844G>C (p.Gly615Ala)
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.1860T>G (p.Ile620Met) rs1584745529
NM_015450.3(POT1):c.1864T>C (p.Tyr622His) rs188854542
NM_015450.3(POT1):c.1865A>G (p.Tyr622Cys) rs760062934
NM_015450.3(POT1):c.1869G>C (p.Gln623His) rs587777478
NM_015450.3(POT1):c.1869_1877delinsAATTTTGG (p.Phe625fs) rs1584745506
NM_015450.3(POT1):c.186T>C (p.Phe62=) rs1376049205
NM_015450.3(POT1):c.1870A>G (p.Ile624Val) rs1410012081
NM_015450.3(POT1):c.1871T>C (p.Ile624Thr) rs1554414645
NM_015450.3(POT1):c.1880C>A (p.Thr627Asn) rs1584745502
NM_015450.3(POT1):c.1881C>A (p.Thr627=) rs1584745500
NM_015450.3(POT1):c.1882A>G (p.Thr628Ala) rs1260196051
NM_015450.3(POT1):c.1884A>C (p.Thr628=) rs17147565
NM_015450.3(POT1):c.188G>C (p.Ser63Thr) rs1584777788
NM_015450.3(POT1):c.1891G>A (p.Glu631Lys) rs1584745486
NM_015450.3(POT1):c.1902C>A (p.Ile634=) rs1584745478
NM_015450.3(POT1):c.191del (p.Gly64fs)
NM_015450.3(POT1):c.195C>A (p.Asn65Lys) rs1584777781
NM_015450.3(POT1):c.197A>G (p.Tyr66Cys) rs776085350
NM_015450.3(POT1):c.19A>G (p.Thr7Ala) rs1584792050
NM_015450.3(POT1):c.1A>G (p.Met1Val) rs1584510207
NM_015450.3(POT1):c.205C>T (p.Leu69Phe) rs905571705
NM_015450.3(POT1):c.211A>G (p.Ile71Val) rs776844142
NM_015450.3(POT1):c.212dup (p.Ile72fs)
NM_015450.3(POT1):c.21A>T (p.Thr7=) rs1584792046
NM_015450.3(POT1):c.224A>G (p.Asn75Ser) rs1044174795
NM_015450.3(POT1):c.226G>A (p.Gly76Arg) rs1584777738
NM_015450.3(POT1):c.230A>G (p.Asp77Gly)
NM_015450.3(POT1):c.231T>C (p.Asp77=) rs1205715970
NM_015450.3(POT1):c.233T>C (p.Ile78Thr) rs947005337
NM_015450.3(POT1):c.234T>A (p.Ile78=) rs1554429191
NM_015450.3(POT1):c.238C>T (p.Arg80Cys) rs778692211
NM_015450.3(POT1):c.239G>A (p.Arg80His) rs868664738
NM_015450.3(POT1):c.240C>T (p.Arg80=) rs1554429181
NM_015450.3(POT1):c.246C>T (p.His82=) rs1554429176
NM_015450.3(POT1):c.252G>A (p.Leu84=) rs1584777703
NM_015450.3(POT1):c.255+1G>A rs1584777699
NM_015450.3(POT1):c.255+218A>G rs140769533
NM_015450.3(POT1):c.255+5A>G rs1584777694
NM_015450.3(POT1):c.255G>A (p.Lys85=) rs747851551
NM_015450.3(POT1):c.256-10A>T rs760102890
NM_015450.3(POT1):c.256-3T>C rs760801846
NM_015450.3(POT1):c.256-64G>A rs115093434
NM_015450.3(POT1):c.259C>G (p.Gln87Glu)
NM_015450.3(POT1):c.264A>G (p.Val88=) rs1453961322
NM_015450.3(POT1):c.265T>C (p.Tyr89His) rs1131691746
NM_015450.3(POT1):c.266A>G (p.Tyr89Cys) rs587777472
NM_015450.3(POT1):c.268A>G (p.Lys90Glu) rs1554427012
NM_015450.3(POT1):c.272A>C (p.Lys91Thr) rs1283293522
NM_015450.3(POT1):c.280C>G (p.Gln94Glu) rs587777474
NM_015450.3(POT1):c.281_282del (p.Gln94fs) rs1397398300
NM_015450.3(POT1):c.282G>C (p.Gln94His)
NM_015450.3(POT1):c.283G>T (p.Gly95Cys) rs797045168
NM_015450.3(POT1):c.286A>G (p.Ile96Val) rs778571153
NM_015450.3(POT1):c.28A>C (p.Ile10Leu) rs1584792042
NM_015450.3(POT1):c.290C>A (p.Thr97Asn) rs1436205180
NM_015450.3(POT1):c.291C>T (p.Thr97=) rs1463377098
NM_015450.3(POT1):c.298G>A (p.Gly100Ser)
NM_015450.3(POT1):c.2_9dup (p.Val4fs)
NM_015450.3(POT1):c.30A>G (p.Ile10Met)
NM_015450.3(POT1):c.313A>G (p.Thr105Ala)
NM_015450.3(POT1):c.314C>T (p.Thr105Met) rs1554426994
NM_015450.3(POT1):c.315G>A (p.Thr105=) rs377547236
NM_015450.3(POT1):c.315G>T (p.Thr105=) rs377547236
NM_015450.3(POT1):c.31T>C (p.Tyr11His) rs1584792034
NM_015450.3(POT1):c.323G>C (p.Gly108Ala) rs1290433563
NM_015450.3(POT1):c.331G>A (p.Gly111Arg) rs1554426987
NM_015450.3(POT1):c.335C>T (p.Ala112Val)
NM_015450.3(POT1):c.336C>A (p.Ala112=) rs1584773064
NM_015450.3(POT1):c.338C>T (p.Pro113Leu) rs1554426986
NM_015450.3(POT1):c.340A>G (p.Ile114Val) rs146552802
NM_015450.3(POT1):c.343A>C (p.Ile115Leu) rs755644182
NM_015450.3(POT1):c.344T>C (p.Ile115Thr)
NM_015450.3(POT1):c.346C>T (p.Pro116Ser)
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.350G>A (p.Arg117His) rs1385542313
NM_015450.3(POT1):c.363G>C (p.Lys121Asn)
NM_015450.3(POT1):c.365A>G (p.Tyr122Cys) rs1562993384
NM_015450.3(POT1):c.373_374del (p.Phe125fs) rs1584773024
NM_015450.3(POT1):c.375C>T (p.Phe125=) rs1584773021
NM_015450.3(POT1):c.37C>T (p.Pro13Ser) rs1584792028
NM_015450.3(POT1):c.385G>A (p.Asp129Asn)
NM_015450.3(POT1):c.388C>T (p.His130Tyr) rs1554426951
NM_015450.3(POT1):c.395T>C (p.Met132Thr)
NM_015450.3(POT1):c.39C>T (p.Pro13=) rs544201070
NM_015450.3(POT1):c.409C>T (p.Arg137Cys) rs765706794
NM_015450.3(POT1):c.410G>A (p.Arg137His) rs587777475
NM_015450.3(POT1):c.414T>C (p.Val138=) rs1182822582
NM_015450.3(POT1):c.418G>A (p.Ala140Thr) rs1554426928
NM_015450.3(POT1):c.424A>T (p.Thr142Ser)
NM_015450.3(POT1):c.425C>T (p.Thr142Ile) rs1554426922
NM_015450.3(POT1):c.42G>T (p.Leu14=) rs1584792022
NM_015450.3(POT1):c.437C>T (p.Pro146Leu) rs1554426915
NM_015450.3(POT1):c.438G>A (p.Pro146=) rs373691389
NM_015450.3(POT1):c.439T>G (p.Ser147Ala)
NM_015450.3(POT1):c.43A>C (p.Asn15His) rs1554434768
NM_015450.3(POT1):c.43_58del (p.Asn15fs)
NM_015450.3(POT1):c.447A>G (p.Thr149=) rs1469228736
NM_015450.3(POT1):c.448T>C (p.Leu150=) rs1232926005
NM_015450.3(POT1):c.449T>C (p.Leu150Ser) rs918544320
NM_015450.3(POT1):c.449T>G (p.Leu150Ter)
NM_015450.3(POT1):c.463G>A (p.Asp155Asn) rs1562993312
NM_015450.3(POT1):c.464A>G (p.Asp155Gly) rs1584772950
NM_015450.3(POT1):c.471G>C (p.Gln157His)
NM_015450.3(POT1):c.475A>C (p.Met159Leu)
NM_015450.3(POT1):c.475A>G (p.Met159Val) rs1449504013
NM_015450.3(POT1):c.479A>G (p.Gln160Arg) rs1584772936
NM_015450.3(POT1):c.481T>C (p.Tyr161His)
NM_015450.3(POT1):c.485T>A (p.Phe162Tyr) rs1357083058
NM_015450.3(POT1):c.495T>C (p.Thr165=) rs773138295
NM_015450.3(POT1):c.498T>C (p.Cys166=) rs1362261402
NM_015450.3(POT1):c.508G>A (p.Gly170Ser) rs1584772921
NM_015450.3(POT1):c.512A>G (p.Lys171Arg) rs1284442583
NM_015450.3(POT1):c.516A>G (p.Ala172=) rs767849387
NM_015450.3(POT1):c.525C>T (p.Asp175=) rs761930094
NM_015450.3(POT1):c.526G>A (p.Gly176Arg) rs774576173
NM_015450.3(POT1):c.529G>A (p.Ala177Thr)
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.53A>G (p.Lys18Arg) rs1584792012
NM_015450.3(POT1):c.546+1G>A
NM_015450.3(POT1):c.546+208G>A rs4397336
NM_015450.3(POT1):c.546+5A>G
NM_015450.3(POT1):c.546G>A (p.Lys182=) rs1280084769
NM_015450.3(POT1):c.547-10C>G
NM_015450.3(POT1):c.547-222C>A rs67084428
NM_015450.3(POT1):c.547-3C>A rs770890978
NM_015450.3(POT1):c.547-3C>T
NM_015450.3(POT1):c.547G>A (p.Val183Ile) rs1186225134
NM_015450.3(POT1):c.552G>A (p.Trp184Ter) rs1202302799
NM_015450.3(POT1):c.554_555delinsCA (p.Asp185Ala) rs1584769974
NM_015450.3(POT1):c.557G>A (p.Gly186Asp) rs1205880072
NM_015450.3(POT1):c.559A>G (p.Thr187Ala)
NM_015450.3(POT1):c.560C>G (p.Thr187Ser) rs1562990972
NM_015450.3(POT1):c.563G>C (p.Arg188Thr) rs1161774277
NM_015450.3(POT1):c.570A>G (p.Pro190=) rs1584769931
NM_015450.3(POT1):c.576A>G (p.Pro192=) rs1450319624
NM_015450.3(POT1):c.577T>C (p.Ser193Pro) rs752854457
NM_015450.3(POT1):c.579T>G (p.Ser193=) rs1308025357
NM_015450.3(POT1):c.588C>T (p.Val196=) rs1584769909
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.598_606dup (p.Asp200_Val202dup) rs1554425767
NM_015450.3(POT1):c.608T>G (p.Leu203Arg) rs1562990940
NM_015450.3(POT1):c.616G>T (p.Asp206Tyr)
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.623G>A (p.Ser208Asn) rs776459318
NM_015450.3(POT1):c.630C>T (p.Ile210=) rs1188736928
NM_015450.3(POT1):c.635G>A (p.Arg212Gln) rs746903370
NM_015450.3(POT1):c.636G>C (p.Arg212=) rs1554425745
NM_015450.3(POT1):c.639A>G (p.Leu213=) rs1309356160
NM_015450.3(POT1):c.642A>G (p.Gln214=) rs1479799328
NM_015450.3(POT1):c.644A>C (p.Asn215Thr)
NM_015450.3(POT1):c.64A>G (p.Ile22Val) rs375440229
NM_015450.3(POT1):c.653T>C (p.Ile218Thr) rs376770473
NM_015450.3(POT1):c.657C>A (p.Asp219Glu)
NM_015450.3(POT1):c.668A>G (p.Tyr223Cys)
NM_015450.3(POT1):c.669C>T (p.Tyr223=) rs1307901642
NM_015450.3(POT1):c.670G>A (p.Asp224Asn) rs202187871
NM_015450.3(POT1):c.671A>G (p.Asp224Gly) rs1584769825
NM_015450.3(POT1):c.672_674dup (p.Asn225dup)
NM_015450.3(POT1):c.675C>A (p.Asn225Lys) rs1050055964
NM_015450.3(POT1):c.675C>T (p.Asn225=) rs1050055964
NM_015450.3(POT1):c.682C>T (p.His228Tyr)
NM_015450.3(POT1):c.683A>G (p.His228Arg) rs1584769814
NM_015450.3(POT1):c.684T>C (p.His228=) rs778643955
NM_015450.3(POT1):c.686T>C (p.Val229Ala)
NM_015450.3(POT1):c.688G>A (p.Ala230Thr) rs1315178609
NM_015450.3(POT1):c.693A>T (p.Arg231Ser)
NM_015450.3(POT1):c.697C>T (p.Leu233=) rs1554425714
NM_015450.3(POT1):c.700A>G (p.Lys234Glu)
NM_015450.3(POT1):c.702+4A>G
NM_015450.3(POT1):c.702+5T>C rs1370505940
NM_015450.3(POT1):c.702+8A>T rs6959712
NM_015450.3(POT1):c.702+8_702+9delinsTG rs36069303
NM_015450.3(POT1):c.702+9T>G rs6977407
NM_015450.3(POT1):c.703-233G>A rs150979715
NM_015450.3(POT1):c.703-3T>G rs1584765787
NM_015450.3(POT1):c.703-8dup rs1584765789
NM_015450.3(POT1):c.703G>A (p.Val235Ile) rs753638532
NM_015450.3(POT1):c.709A>C (p.Ser237Arg) rs1554424059
NM_015450.3(POT1):c.711_712delinsAC (p.Ser237_Phe238delinsArgLeu)
NM_015450.3(POT1):c.716T>G (p.Leu239Arg) rs1554424050
NM_015450.3(POT1):c.717T>C (p.Leu239=) rs1584765768
NM_015450.3(POT1):c.71A>G (p.Asn24Ser) rs372235657
NM_015450.3(POT1):c.720A>G (p.Arg240=) rs766211616
NM_015450.3(POT1):c.723C>T (p.Ile241=) rs371599223
NM_015450.3(POT1):c.725A>G (p.Tyr242Cys)
NM_015450.3(POT1):c.73G>A (p.Val25Ile) rs375825837
NM_015450.3(POT1):c.747A>G (p.Gln249=) rs35361862
NM_015450.3(POT1):c.750A>C (p.Ser250=) rs1463033972
NM_015450.3(POT1):c.751A>G (p.Met251Val) rs148397357
NM_015450.3(POT1):c.753G>A (p.Met251Ile)
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.763A>C (p.Asn255His) rs1260902476
NM_015450.3(POT1):c.768G>C (p.Gln256His) rs577386630
NM_015450.3(POT1):c.771A>T (p.Thr257=) rs762679439
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.779G>C (p.Ser260Thr)
NM_015450.3(POT1):c.77A>G (p.Tyr26Cys) rs1197625483
NM_015450.3(POT1):c.790C>T (p.His264Tyr)
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.799G>A (p.Gly267Arg) rs1131691987
NM_015450.3(POT1):c.79G>C (p.Gly27Arg) rs1584791977
NM_015450.3(POT1):c.7T>C (p.Leu3=) rs1584510203
NM_015450.3(POT1):c.801A>G (p.Gly267=) rs1554423995
NM_015450.3(POT1):c.809G>A (p.Ser270Asn) rs587777477
NM_015450.3(POT1):c.813C>T (p.Tyr271=) rs61756407
NM_015450.3(POT1):c.814G>A (p.Gly272Ser) rs781279819
NM_015450.3(POT1):c.817C>T (p.Arg273Trp) rs1554423983
NM_015450.3(POT1):c.818G>A (p.Arg273Gln) rs587777476
NM_015450.3(POT1):c.818G>T (p.Arg273Leu) rs587777476
NM_015450.3(POT1):c.821G>T (p.Gly274Val)
NM_015450.3(POT1):c.822A>C (p.Gly274=) rs1584765621
NM_015450.3(POT1):c.823A>G (p.Ile275Val) rs1584765612
NM_015450.3(POT1):c.828G>A (p.Arg276=) rs76496261
NM_015450.3(POT1):c.828G>T (p.Arg276Ser)
NM_015450.3(POT1):c.839A>G (p.Glu280Gly) rs1562987653
NM_015450.3(POT1):c.841A>G (p.Ser281Gly) rs780098976
NM_015450.3(POT1):c.846C>T (p.Asn282=) rs142704514
NM_015450.3(POT1):c.847T>G (p.Ser283Ala) rs1584765580
NM_015450.3(POT1):c.856G>A (p.Asp286Asn)
NM_015450.3(POT1):c.862C>T (p.Leu288=) rs199583149
NM_015450.3(POT1):c.869A>T (p.Lys290Met)
NM_015450.3(POT1):c.870-33A>G rs7784168
NM_015450.3(POT1):c.870-3T>C rs1291756890
NM_015450.3(POT1):c.870-7A>G rs372566252
NM_015450.3(POT1):c.870-9C>A rs1584764978
NM_015450.3(POT1):c.879A>G (p.Glu293=) rs759178052
NM_015450.3(POT1):c.87G>A (p.Val29=) rs1481759760
NM_015450.3(POT1):c.87G>C (p.Val29=) rs1481759760
NM_015450.3(POT1):c.882T>C (p.Ser294=) rs1584764961
NM_015450.3(POT1):c.883G>C (p.Ala295Pro) rs1584764955
NM_015450.3(POT1):c.885A>T (p.Ala295=) rs1584764945
NM_015450.3(POT1):c.886A>G (p.Asn296Asp) rs767877070
NM_015450.3(POT1):c.889T>G (p.Leu297Val) rs762044659
NM_015450.3(POT1):c.895G>A (p.Ala299Thr) rs149273459
NM_015450.3(POT1):c.896C>T (p.Ala299Val)
NM_015450.3(POT1):c.898A>T (p.Asn300Tyr)
NM_015450.3(POT1):c.899A>G (p.Asn300Ser) rs573222502
NM_015450.3(POT1):c.9+10T>C rs369023903
NM_015450.3(POT1):c.9+179A>G rs115367394
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+6A>G rs750242979
NM_015450.3(POT1):c.9+7T>C rs1003931714
NM_015450.3(POT1):c.9+8G>A rs767433441
NM_015450.3(POT1):c.903G>T (p.Gln301His) rs116916706
NM_015450.3(POT1):c.908C>T (p.Ser303Leu)
NM_015450.3(POT1):c.913G>A (p.Val305Ile) rs1444104997
NM_015450.3(POT1):c.916A>G (p.Ile306Val)
NM_015450.3(POT1):c.916A>T (p.Ile306Phe) rs1415345156
NM_015450.3(POT1):c.924A>G (p.Gln308=) rs34398311
NM_015450.3(POT1):c.925T>C (p.Ser309Pro) rs1584764901
NM_015450.3(POT1):c.926C>G (p.Ser309Ter)
NM_015450.3(POT1):c.936C>G (p.Asp312Glu)
NM_015450.3(POT1):c.936C>T (p.Asp312=) rs35051558
NM_015450.3(POT1):c.937G>T (p.Asp313Tyr) rs770779418
NM_015450.3(POT1):c.938A>T (p.Asp313Val) rs1584764879
NM_015450.3(POT1):c.939C>T (p.Asp313=) rs746756338
NM_015450.3(POT1):c.93C>T (p.Phe31=) rs1584791969
NM_015450.3(POT1):c.942C>T (p.Ser314=) rs1554423491
NM_015450.3(POT1):c.948A>G (p.Pro316=) rs1453776479
NM_015450.3(POT1):c.949+10A>G rs1477548403
NM_015450.3(POT1):c.949+171dup rs34904451
NM_015450.3(POT1):c.949+5G>A
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.950-10C>T rs932001885
NM_015450.3(POT1):c.966A>G (p.Ser322=) rs1350554685
NM_015450.3(POT1):c.968_970del (p.Leu323del)
NM_015450.3(POT1):c.972C>T (p.Tyr324=) rs758749502
NM_015450.3(POT1):c.973G>A (p.Glu325Lys) rs1554421987
NM_015450.3(POT1):c.976G>A (p.Val326Ile)
NM_015450.3(POT1):c.977T>C (p.Val326Ala) rs75932146
NM_015450.3(POT1):c.978A>G (p.Val326=) rs143616208
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.991C>T (p.Gln331Ter) rs531061783
NM_015450.3(POT1):c.994C>T (p.Leu332=) rs138223484
NM_015450.3(POT1):c.996A>G (p.Leu332=) rs1224859801
Single allele

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