ClinVar Miner

List of variants in gene POT1 studied for familial melanoma

Included ClinVar conditions (19):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 1585
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HGVS dbSNP gnomAD frequency
NM_015450.3(POT1):c.1006+16A>G rs7794637 0.70871
NM_015450.3(POT1):c.702+9T>G rs6977407 0.60082
NM_015450.3(POT1):c.702+8A>T rs6959712 0.60081
NM_015450.3(POT1):c.1164-13C>T rs3815221 0.39790
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.-34T>C rs202009081 0.00044
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.9+10T>C rs369023903 0.00024
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.869+14A>G rs117288578 0.00021
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.1686+32A>G rs749702835 0.00011
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.9+6A>G rs750242979 0.00009
NM_015450.3(POT1):c.256-10A>G rs760102890 0.00008
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.1594+7T>G rs754448010 0.00006
NM_015450.3(POT1):c.1841A>G (p.Asn614Ser) rs202024401 0.00006
NM_015450.3(POT1):c.702+14G>A rs751694946 0.00006
NM_015450.3(POT1):c.702+16A>G rs758402124 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.10-18dup rs755200877 0.00004
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.1687-19C>G rs759093868 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.10-19C>T rs1199581727 0.00002
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.1369+5G>A rs1297963302 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.1594+6C>T rs1354299889 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.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.256-12C>T rs765836424 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.546+17A>C rs531577689 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.869+12G>A rs762326478 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.10-11T>C rs751375033 0.00001
NM_015450.3(POT1):c.10-16T>G rs757138902 0.00001
NM_015450.3(POT1):c.1006+11G>A rs1034797318 0.00001
NM_015450.3(POT1):c.1006+13A>G rs373911554 0.00001
NM_015450.3(POT1):c.1006+7C>G rs766684073 0.00001
NM_015450.3(POT1):c.1007-17A>G rs376637966 0.00001
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.1235A>C (p.Lys412Thr) rs1432715110 0.00001
NM_015450.3(POT1):c.124+15T>C rs368386396 0.00001
NM_015450.3(POT1):c.124+18T>C rs781611731 0.00001
NM_015450.3(POT1):c.1246A>G (p.Thr416Ala) rs761543329 0.00001
NM_015450.3(POT1):c.125-16T>C rs1349693683 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.1340T>C (p.Leu447Pro) rs1450240396 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.1369+10T>A rs773549874 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.1473A>G (p.Pro491=) rs1307654827 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+14T>C rs1046955164 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.1533C>G (p.Ser511=) rs1251342049 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.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.1595-17T>G rs760900938 0.00001
NM_015450.3(POT1):c.1597C>T (p.Leu533=) rs1490942458 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.1635C>G (p.Thr545=) rs1211488720 0.00001
NM_015450.3(POT1):c.1678A>G (p.Met560Val) rs1351302431 0.00001
NM_015450.3(POT1):c.1687-9A>G rs776461827 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.1791T>C (p.Ile597=) rs1462868950 0.00001
NM_015450.3(POT1):c.1793-12T>C rs777834542 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.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.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.256-16T>C rs1393767375 0.00001
NM_015450.3(POT1):c.264A>G (p.Val88=) rs1453961322 0.00001
NM_015450.3(POT1):c.268A>G (p.Lys90Glu) rs1554427012 0.00001
NM_015450.3(POT1):c.273G>A (p.Lys91=) rs748016795 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.306A>G (p.Ala102=) rs1182980873 0.00001
NM_015450.3(POT1):c.315G>A (p.Thr105=) rs377547236 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+11T>C rs769687451 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.547-11T>C rs776561506 0.00001
NM_015450.3(POT1):c.547-3C>A rs770890978 0.00001
NM_015450.3(POT1):c.547-6T>C rs1386166678 0.00001
NM_015450.3(POT1):c.547G>A (p.Val183Ile) rs1186225134 0.00001
NM_015450.3(POT1):c.549A>G (p.Val183=) rs758095637 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.701A>C (p.Lys234Thr) rs1482095774 0.00001
NM_015450.3(POT1):c.702+13A>G rs1207930929 0.00001
NM_015450.3(POT1):c.702+15G>A rs777840146 0.00001
NM_015450.3(POT1):c.703-20A>G rs575540246 0.00001
NM_015450.3(POT1):c.703-9A>G rs558549708 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.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.862C>T (p.Leu288=) rs199583149 0.00001
NM_015450.3(POT1):c.870-13C>G rs374223039 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.9+12T>C rs751575991 0.00001
NM_015450.3(POT1):c.9+8G>A rs767433441 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.949+10A>G rs1477548403 0.00001
NM_015450.3(POT1):c.949+9A>G rs777804331 0.00001
NM_015450.3(POT1):c.950-4dup rs1372768710 0.00001
NM_015450.3(POT1):c.950-5T>C rs750032192 0.00001
NM_015450.3(POT1):c.987T>C (p.Cys329=) rs765813344 0.00001
NM_015450.3(POT1):c.991C>T (p.Gln331Ter) rs531061783 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
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_?)del
NC_000007.13:g.(?_124464016)_(124537227_?)dup
NC_000007.13:g.(?_124475323)_(124475478_?)dup
NC_000007.13:g.(?_124482851)_(124483027_?)del
NC_000007.13:g.(?_124486986)_(124537227_?)del
NC_000007.13:g.(?_124491916)_(124537227_?)del
NC_000007.13:g.(?_124491926)_(124537227_?)del
NC_000007.13:g.(?_124499001)_(124511105_?)del
NC_000007.13:g.(?_124499001)_(124537227_?)dup
NC_000007.13:g.(?_124503394)_(124537227_?)del
NC_000007.13:g.(?_124510955)_(124511105_?)del
NC_000007.13:g.(?_124510955)_(124537227_?)del
NC_000007.13:g.(?_124532300)_(124537227_?)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
NM_015450.2:c.-154+5928_9+618dup
NM_015450.3(POT1):c.10-12C>T
NM_015450.3(POT1):c.10-13T>C rs2116630036
NM_015450.3(POT1):c.10-18T>C rs1796393719
NM_015450.3(POT1):c.10-1G>A rs976603098
NM_015450.3(POT1):c.10-2A>C rs1554434788
NM_015450.3(POT1):c.10-3T>C rs1796393484
NM_015450.3(POT1):c.10-6_10-3del
NM_015450.3(POT1):c.1003_1006+10del
NM_015450.3(POT1):c.1004C>T (p.Thr335Ile)
NM_015450.3(POT1):c.1006+15_1006+16inv
NM_015450.3(POT1):c.1006+2T>C rs1795183662
NM_015450.3(POT1):c.1006+3A>G rs2116483768
NM_015450.3(POT1):c.1006+4A>G rs1795183590
NM_015450.3(POT1):c.1006+7C>T rs766684073
NM_015450.3(POT1):c.1006+8dup
NM_015450.3(POT1):c.1006+9A>G rs757922302
NM_015450.3(POT1):c.1006+9_1006+10del rs764472102
NM_015450.3(POT1):c.1006A>T (p.Ile336Leu) rs1795183721
NM_015450.3(POT1):c.1007-11A>T rs2116468474
NM_015450.3(POT1):c.1007-11del rs1304104982
NM_015450.3(POT1):c.1007-16T>G rs2116468491
NM_015450.3(POT1):c.1007-19A>G
NM_015450.3(POT1):c.1007-20A>T
NM_015450.3(POT1):c.1007-35_1007-18del rs2116468506
NM_015450.3(POT1):c.1007-4A>G rs1361371744
NM_015450.3(POT1):c.1007-8C>A rs375482256
NM_015450.3(POT1):c.1007-8C>G rs375482256
NM_015450.3(POT1):c.1007-8C>T rs375482256
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.1014A>T (p.Thr338=) rs1554420707
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.1025A>T (p.Tyr342Phe)
NM_015450.3(POT1):c.1026T>G (p.Tyr342Ter)
NM_015450.3(POT1):c.102C>T (p.Pro34=) rs2116629600
NM_015450.3(POT1):c.1030G>A (p.Glu344Lys) rs951589289
NM_015450.3(POT1):c.1030G>T (p.Glu344Ter) rs951589289
NM_015450.3(POT1):c.1031A>G (p.Glu344Gly) rs2116468256
NM_015450.3(POT1):c.1035G>A (p.Arg345=) rs1426607411
NM_015450.3(POT1):c.1038A>G (p.Thr346=) rs762879798
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.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>G (p.Lys353=)
NM_015450.3(POT1):c.105A>G (p.Pro35=) rs1348510446
NM_015450.3(POT1):c.1060_1063del (p.Gln354fs)
NM_015450.3(POT1):c.1061A>G (p.Gln354Arg)
NM_015450.3(POT1):c.1062A>G (p.Gln354=) rs2116468064
NM_015450.3(POT1):c.1064A>G (p.Lys355Arg)
NM_015450.3(POT1):c.1065A>G (p.Lys355=)
NM_015450.3(POT1):c.1065A>T (p.Lys355Asn)
NM_015450.3(POT1):c.1065dup (p.Ala356fs) rs1225878757
NM_015450.3(POT1):c.1066G>A (p.Ala356Thr)
NM_015450.3(POT1):c.1068T>C (p.Ala356=)
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.1071T>C (p.Pro357=) rs1384754845
NM_015450.3(POT1):c.1071del (p.Gln358fs) rs1562981913
NM_015450.3(POT1):c.1072C>G (p.Gln358Glu) rs1562981898
NM_015450.3(POT1):c.1072C>T (p.Gln358Ter) 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.1078T>C (p.Tyr360His) rs1554420630
NM_015450.3(POT1):c.107A>G (p.Tyr36Cys) rs1057524691
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.1089A>G (p.Arg363=) rs2116467790
NM_015450.3(POT1):c.1090G>A (p.Ala364Thr) rs2116467771
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.1101G>A (p.Arg367=)
NM_015450.3(POT1):c.1104A>G (p.Ser368=) rs1381478448
NM_015450.3(POT1):c.1113C>T (p.Pro371=)
NM_015450.3(POT1):c.1114A>C (p.Arg372=)
NM_015450.3(POT1):c.1116A>G (p.Arg372=) rs1249442758
NM_015450.3(POT1):c.1117A>C (p.Arg373=)
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.111A>C (p.Leu37=) rs2116629559
NM_015450.3(POT1):c.1122A>G (p.Leu374=) rs143283657
NM_015450.3(POT1):c.1123T>A (p.Phe375Ile) rs1562981806
NM_015450.3(POT1):c.1126C>T (p.Gln376Ter)
NM_015450.3(POT1):c.1127A>C (p.Gln376Pro)
NM_015450.3(POT1):c.1129T>G (p.Ser377Ala)
NM_015450.3(POT1):c.1130C>T (p.Ser377Phe)
NM_015450.3(POT1):c.1131T>C (p.Ser377=)
NM_015450.3(POT1):c.1132G>A (p.Val378Ile)
NM_015450.3(POT1):c.1132G>C (p.Val378Leu) rs1245805221
NM_015450.3(POT1):c.1137A>G (p.Lys379=) rs2116467497
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.1146C>T (p.Cys382=)
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.1149T>C (p.Pro383=)
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.1159T>C (p.Leu387=) rs2116467339
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+11T>C
NM_015450.3(POT1):c.1163+13C>T
NM_015450.3(POT1):c.1163+14A>C
NM_015450.3(POT1):c.1163+14A>G
NM_015450.3(POT1):c.1163+14A>T
NM_015450.3(POT1):c.1163+17A>G rs746667001
NM_015450.3(POT1):c.1163+19_1163+20insTTCCATAATAC rs2116467251
NM_015450.3(POT1):c.1163+1G>A rs1562981766
NM_015450.3(POT1):c.1163+1G>C rs1562981766
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.1163+8T>C
NM_015450.3(POT1):c.1164-10A>G rs1554420179
NM_015450.3(POT1):c.1164-13C>A
NM_015450.3(POT1):c.1164-14G>A
NM_015450.3(POT1):c.1164-14_1164-13delinsAT
NM_015450.3(POT1):c.1164-16T>C
NM_015450.3(POT1):c.1164-17A>G rs2116462310
NM_015450.3(POT1):c.1164-19T>G rs1349709460
NM_015450.3(POT1):c.1164-3T>G
NM_015450.3(POT1):c.1164-4T>G rs1584757391
NM_015450.3(POT1):c.1164-6T>C
NM_015450.3(POT1):c.1164-7A>C rs1554420177
NM_015450.3(POT1):c.1164-9T>C rs2116462263
NM_015450.3(POT1):c.1164G>T (p.Leu388=) rs1405485811
NM_015450.3(POT1):c.1165C>G (p.Gln389Glu)
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>G (p.Val391Gly) rs2116462193
NM_015450.3(POT1):c.1176A>C (p.Pro392=) rs2116462173
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.118G>T (p.Gly40Ter) rs1796390355
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>C (p.Ile399=)
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.1209T>C (p.Asp403=)
NM_015450.3(POT1):c.120_124+1del rs1796390112
NM_015450.3(POT1):c.1211G>A (p.Gly404Asp) rs35536751
NM_015450.3(POT1):c.1211G>T (p.Gly404Val) 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.1222del (p.Thr408fs)
NM_015450.3(POT1):c.1223C>T (p.Thr408Ile) rs2116461902
NM_015450.3(POT1):c.1224C>A (p.Thr408=)
NM_015450.3(POT1):c.1224C>T (p.Thr408=)
NM_015450.3(POT1):c.1227A>G (p.Pro409=) rs552835784
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.1239A>G (p.Leu413=)
NM_015450.3(POT1):c.123T>C (p.Thr41=) rs1796390224
NM_015450.3(POT1):c.124+14C>T rs1482342821
NM_015450.3(POT1):c.124+18T>A rs781611731
NM_015450.3(POT1):c.124+18T>G
NM_015450.3(POT1):c.124+18_124+19del
NM_015450.3(POT1):c.124+19G>A
NM_015450.3(POT1):c.124+1G>C rs1563008413
NM_015450.3(POT1):c.124+2T>C rs2116629474
NM_015450.3(POT1):c.124+5G>T rs1027069149
NM_015450.3(POT1):c.124+7A>G rs769945908
NM_015450.3(POT1):c.1242A>G (p.Gln414=)
NM_015450.3(POT1):c.1244A>G (p.Asn415Ser)
NM_015450.3(POT1):c.1247C>T (p.Thr416Ile) rs1795017352
NM_015450.3(POT1):c.1248A>G (p.Thr416=) rs1584757270
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.125-11G>A rs2116567925
NM_015450.3(POT1):c.125-12del
NM_015450.3(POT1):c.125-19A>G
NM_015450.3(POT1):c.125-1G>T rs1795856406
NM_015450.3(POT1):c.125-2A>G rs1562997292
NM_015450.3(POT1):c.125-3C>A rs1795856518
NM_015450.3(POT1):c.125-3del rs1584777876
NM_015450.3(POT1):c.125-4C>T
NM_015450.3(POT1):c.125-5T>C
NM_015450.3(POT1):c.125-8T>C
NM_015450.3(POT1):c.1250C>T (p.Ser417Leu)
NM_015450.3(POT1):c.1251A>G (p.Ser417=) rs1554420121
NM_015450.3(POT1):c.1251del (p.Leu418fs)
NM_015450.3(POT1):c.1253_1255del (p.Leu418del)
NM_015450.3(POT1):c.1254A>G (p.Leu418=)
NM_015450.3(POT1):c.1255T>A (p.Tyr419Asn) rs773811344
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.1259A>T (p.Asp420Val) rs1562980906
NM_015450.3(POT1):c.125A>G (p.Asp42Gly) rs1562997283
NM_015450.3(POT1):c.1262C>A (p.Ser421Ter) rs1413163992
NM_015450.3(POT1):c.1262C>T (p.Ser421Leu) rs1413163992
NM_015450.3(POT1):c.1266A>G (p.Lys422=) rs1795016391
NM_015450.3(POT1):c.126T>C (p.Asp42=) rs1554429221
NM_015450.3(POT1):c.126T>G (p.Asp42Glu) rs1554429221
NM_015450.3(POT1):c.1272G>A (p.Trp424Ter) rs2116461581
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.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.1290A>G (p.Lys430=) rs1562980850
NM_015450.3(POT1):c.1291G>A (p.Gly431Arg)
NM_015450.3(POT1):c.1294C>T (p.Arg432Ter) rs758341603
NM_015450.3(POT1):c.1299A>G (p.Lys433=)
NM_015450.3(POT1):c.1299A>T (p.Lys433Asn)
NM_015450.3(POT1):c.129T>A (p.Tyr43Ter)
NM_015450.3(POT1):c.1300G>A (p.Val434Ile)
NM_015450.3(POT1):c.1300G>C (p.Val434Leu) rs778955557
NM_015450.3(POT1):c.1300del (p.Lys433_Val434insTer) rs1795015022
NM_015450.3(POT1):c.1301T>C (p.Val434Ala)
NM_015450.3(POT1):c.1302A>G (p.Val434=)
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.1305A>C (p.Ala435=) rs756111359
NM_015450.3(POT1):c.1305A>G (p.Ala435=) rs756111359
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.1317G>T (p.Val439=)
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.1322dup (p.Asn441fs) rs1358966427
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.1329T>C (p.Gly443=)
NM_015450.3(POT1):c.1332del (p.Leu445fs)
NM_015450.3(POT1):c.1334T>C (p.Leu445Pro) rs1795013633
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.133T>C (p.Ser45Pro) rs774755861
NM_015450.3(POT1):c.1340T>A (p.Leu447His) rs1450240396
NM_015450.3(POT1):c.1344A>G (p.Ser448=)
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.1348G>T (p.Glu450Ter) rs797045169
NM_015450.3(POT1):c.1350A>G (p.Glu450=) rs2116461086
NM_015450.3(POT1):c.1351T>C (p.Cys451Arg)
NM_015450.3(POT1):c.1356A>G (p.Leu452=) rs2116461050
NM_015450.3(POT1):c.1360T>C (p.Leu454=) rs1554420018
NM_015450.3(POT1):c.1361del (p.Leu453_Leu454insTer)
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.1369+10T>C rs773549874
NM_015450.3(POT1):c.1369+14G>A
NM_015450.3(POT1):c.1369+1_1369+5del rs750755822
NM_015450.3(POT1):c.1369+6A>C rs1562980753
NM_015450.3(POT1):c.1369+6A>G rs1562980753
NM_015450.3(POT1):c.1369+8A>G rs2116460933
NM_015450.3(POT1):c.1369+9T>C
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.1370-10C>T
NM_015450.3(POT1):c.1370-13A>G rs1225903679
NM_015450.3(POT1):c.1370-14_1370-11del
NM_015450.3(POT1):c.1370-17A>G
NM_015450.3(POT1):c.1370-3C>G rs1584753403
NM_015450.3(POT1):c.1370-4A>G
NM_015450.3(POT1):c.1370-6dup
NM_015450.3(POT1):c.1370-7T>C
NM_015450.3(POT1):c.1370-8C>T rs760977808
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.1377A>C (p.Thr459=)
NM_015450.3(POT1):c.1377A>G (p.Thr459=)
NM_015450.3(POT1):c.1379_1380del (p.Leu460fs) rs2116444583
NM_015450.3(POT1):c.137T>C (p.Val46Ala)
NM_015450.3(POT1):c.1381A>T (p.Ser461Cys) rs762019631
NM_015450.3(POT1):c.1381_1382del (p.Leu460_Ser461insTer) rs2116444559
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.1389T>C (p.Ile463=) rs891347957
NM_015450.3(POT1):c.1392C>T (p.Cys464=)
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.1398C>A (p.Leu466=) rs1794875043
NM_015450.3(POT1):c.13C>A (p.Pro5Thr) rs1378378085
NM_015450.3(POT1):c.1400C>A (p.Ser467Ter) rs1410842025
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.1407G>A (p.Lys469=) rs1584753348
NM_015450.3(POT1):c.1410T>G (p.Phe470Leu)
NM_015450.3(POT1):c.1411_1414delinsTTTTT (p.Asn471fs) rs1794873983
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.1414_1415insT (p.Ser472fs) rs1794873824
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.1417G>A (p.Val473Ile)
NM_015450.3(POT1):c.1424C>T (p.Pro475Leu) rs2116444246
NM_015450.3(POT1):c.1425T>C (p.Pro475=)
NM_015450.3(POT1):c.1426G>A (p.Val476Met)
NM_015450.3(POT1):c.1426_1427insGCCGGGCGCGGTGGCTCGCGCCTGTAGTCCCAGCACGTCGGGAGGCCGAGGCGGGAGTATGGCGTGGACACGGGAACCGGANNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAATAGTGTAATTCCTG (p.Val476delinsGlyArgAlaArgTrpLeuAlaProValValProAlaArgArgGluAlaGluAlaGlyValTrpArgGlyHisGlyAsnArgXaaXaaXaaXaaLysLysLysLysLysLysLysTer)
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.1434T>C (p.Ser478=) rs1562977862
NM_015450.3(POT1):c.1435G>A (p.Gly479Ser)
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.1449G>A (p.Leu483=) rs2116444113
NM_015450.3(POT1):c.1450G>A (p.Glu484Lys) rs756511762
NM_015450.3(POT1):c.1452A>G (p.Glu484=) rs1457629286
NM_015450.3(POT1):c.1461C>T (p.Asp487=) rs2116444022
NM_015450.3(POT1):c.1465T>C (p.Ser489Pro) rs2116443997
NM_015450.3(POT1):c.146T>C (p.Ile49Thr)
NM_015450.3(POT1):c.1470A>G (p.Ala490=)
NM_015450.3(POT1):c.1474_1491del (p.Phe492_Thr497del) rs1554418234
NM_015450.3(POT1):c.1475_1476insA (p.Phe492fs)
NM_015450.3(POT1):c.147T>C (p.Ile49=)
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.1483C>T (p.Gln495Ter)
NM_015450.3(POT1):c.1487G>A (p.Gly496Glu)
NM_015450.3(POT1):c.1490C>T (p.Thr497Ile) rs879897044
NM_015450.3(POT1):c.1491A>G (p.Thr497=)
NM_015450.3(POT1):c.1494A>G (p.Ile498Met) rs775892143
NM_015450.3(POT1):c.1500C>T (p.His500=)
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.1502_1503del (p.Tyr501fs) rs2116443784
NM_015450.3(POT1):c.1504G>A (p.Gly502Arg)
NM_015450.3(POT1):c.1505+12T>C rs2116443639
NM_015450.3(POT1):c.1505+12_1505+13insTTTTA rs1234828035
NM_015450.3(POT1):c.1505+15T>G
NM_015450.3(POT1):c.1505+16T>C
NM_015450.3(POT1):c.1505+16T>G
NM_015450.3(POT1):c.1505+18G>T rs2116443568
NM_015450.3(POT1):c.1505+2T>C
NM_015450.3(POT1):c.1505+7T>C
NM_015450.3(POT1):c.1505+7_1505+8insTTTTC rs1584753220
NM_015450.3(POT1):c.1505+8G>A rs1364537881
NM_015450.3(POT1):c.1505+8G>T rs1364537881
NM_015450.3(POT1):c.1506-11A>G
NM_015450.3(POT1):c.1506-12del rs2116422381
NM_015450.3(POT1):c.1506-16_1506-13del rs781616553
NM_015450.3(POT1):c.1506-18T>C
NM_015450.3(POT1):c.1506-19T>C
NM_015450.3(POT1):c.1506-20C>G
NM_015450.3(POT1):c.1506-20_1506-19del
NM_015450.3(POT1):c.1506-4T>G
NM_015450.3(POT1):c.1506-5T>G
NM_015450.3(POT1):c.1506-8A>G
NM_015450.3(POT1):c.1506-9A>G rs2116422350
NM_015450.3(POT1):c.150G>A (p.Val50=) rs1795855228
NM_015450.3(POT1):c.1512A>G (p.Lys504=) rs2116422302
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.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.1527G>A (p.Leu509=)
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.1533C>T (p.Ser511=) rs1251342049
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.1548T>C (p.Asn516=)
NM_015450.3(POT1):c.1549T>G (p.Ser517Ala)
NM_015450.3(POT1):c.154C>T (p.Gln52Ter)
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.1566A>T (p.Thr522=) rs746796357
NM_015450.3(POT1):c.1568C>T (p.Ser523Leu) rs139388603
NM_015450.3(POT1):c.1571G>A (p.Trp524Ter)
NM_015450.3(POT1):c.1572G>A (p.Trp524Ter) rs1794703569
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.1583C>A (p.Ser528Tyr)
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.1590A>C (p.Ala530=) rs1482990952
NM_015450.3(POT1):c.1592_1594del (p.Glu531del) rs1794702913
NM_015450.3(POT1):c.1593del (p.Ala532fs) rs2116421906
NM_015450.3(POT1):c.1594+15C>T
NM_015450.3(POT1):c.1594+1G>A rs1794702760
NM_015450.3(POT1):c.1594+1G>C
NM_015450.3(POT1):c.1594+20C>T
NM_015450.3(POT1):c.1594+2T>C
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.1595-10C>G rs2116415305
NM_015450.3(POT1):c.1595-10C>T rs2116415305
NM_015450.3(POT1):c.1595-11del rs762511146
NM_015450.3(POT1):c.1595-11dup rs762511146
NM_015450.3(POT1):c.1595-12T>A
NM_015450.3(POT1):c.1595-14T>C
NM_015450.3(POT1):c.1595-14_1595-11dup
NM_015450.3(POT1):c.1595-17T>C
NM_015450.3(POT1):c.1595-18C>G rs1794655556
NM_015450.3(POT1):c.1595-1G>A
NM_015450.3(POT1):c.1595-2A>G rs2116415268
NM_015450.3(POT1):c.1595-4C>T rs1289966474
NM_015450.3(POT1):c.1595-5A>G rs1554415905
NM_015450.3(POT1):c.1595-8T>C rs1794655230
NM_015450.3(POT1):c.1596A>G (p.Ala532=) rs1584747825
NM_015450.3(POT1):c.1599G>A (p.Leu533=)
NM_015450.3(POT1):c.15A>G (p.Pro5=) rs764164330
NM_015450.3(POT1):c.1603A>G (p.Ile535Val)
NM_015450.3(POT1):c.1605T>C (p.Ile535=)
NM_015450.3(POT1):c.1606G>T (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.1608A>T (p.Val536=)
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.1613T>G (p.Leu538Arg)
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.1616A>G (p.Gln539Arg) rs1794653961
NM_015450.3(POT1):c.161dup (p.Asn54fs) rs1554429205
NM_015450.3(POT1):c.1621G>A (p.Val541Met)
NM_015450.3(POT1):c.1623G>A (p.Val541=)
NM_015450.3(POT1):c.1624T>C (p.Phe542Leu) rs1794653570
NM_015450.3(POT1):c.1629_1632dup (p.Thr545fs)
NM_015450.3(POT1):c.1630dup (p.Met544fs)
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.1635C>T (p.Thr545=) rs1211488720
NM_015450.3(POT1):c.1638T>C (p.Phe546=) rs2116414940
NM_015450.3(POT1):c.1639_1679dup (p.Met560delinsIleHisLeuMetMetGluGlnGluTyrTer) rs1794651890
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.1642C>G (p.Leu548Val) rs2116414910
NM_015450.3(POT1):c.1643T>C (p.Leu548Pro) rs1794652953
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.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.1664T>C (p.Leu555Pro) rs1584747751
NM_015450.3(POT1):c.166A>G (p.Lys56Glu) rs2116567663
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.1682A>G (p.Asp561Gly)
NM_015450.3(POT1):c.1682del (p.Asp561fs)
NM_015450.3(POT1):c.1685C>T (p.Ser562Phe) rs1554415832
NM_015450.3(POT1):c.1686+11G>A
NM_015450.3(POT1):c.1686+11G>C
NM_015450.3(POT1):c.1686+13G>A rs1421979867
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.1686+6_1686+7insTT
NM_015450.3(POT1):c.1686+6dup
NM_015450.3(POT1):c.1686+7A>G rs1584747716
NM_015450.3(POT1):c.1687-11A>T
NM_015450.3(POT1):c.1687-15T>C rs2116408202
NM_015450.3(POT1):c.1687-18T>G
NM_015450.3(POT1):c.1687-19C>T
NM_015450.3(POT1):c.1687-1G>A rs587777473
NM_015450.3(POT1):c.1687-4T>C rs1794605002
NM_015450.3(POT1):c.1687-5T>G rs35062732
NM_015450.3(POT1):c.1687-6T>G rs1794605196
NM_015450.3(POT1):c.1687G>T (p.Asp563Tyr)
NM_015450.3(POT1):c.1688A>G (p.Asp563Gly)
NM_015450.3(POT1):c.1691A>G (p.Lys564Arg)
NM_015450.3(POT1):c.1692A>C (p.Lys564Asn)
NM_015450.3(POT1):c.1692A>G (p.Lys564=)
NM_015450.3(POT1):c.169C>T (p.Leu57=) rs1795854453
NM_015450.3(POT1):c.169_170dup (p.Leu57_Thr58insTer)
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.1704T>C (p.Ile568=) rs749834304
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.1722G>A (p.Leu574=)
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.1730A>G (p.Asp577Gly) rs1794603644
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.1734C>T (p.Asp578=) 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>C (p.Ser582=) rs1222395233
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.1758C>A (p.Ile586=)
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.1782A>C (p.Gly594=)
NM_015450.3(POT1):c.1782A>G (p.Gly594=) rs751661236
NM_015450.3(POT1):c.1785A>C (p.Ile595=)
NM_015450.3(POT1):c.1785A>G (p.Ile595Met) rs1794601418
NM_015450.3(POT1):c.1792+11A>C
NM_015450.3(POT1):c.1792+17T>A
NM_015450.3(POT1):c.1792+18A>G rs1419555046
NM_015450.3(POT1):c.1792+1G>A rs1562972354
NM_015450.3(POT1):c.1792+1G>T rs1562972354
NM_015450.3(POT1):c.1792+5G>T
NM_015450.3(POT1):c.1793-10_1793-6dup
NM_015450.3(POT1):c.1793-10_1793-8del rs2116403812
NM_015450.3(POT1):c.1793-11dup
NM_015450.3(POT1):c.1793-16G>T
NM_015450.3(POT1):c.1793-16_1793-13del
NM_015450.3(POT1):c.1793-17T>C
NM_015450.3(POT1):c.1793-17del rs770069410
NM_015450.3(POT1):c.1793-17dup
NM_015450.3(POT1):c.1793-20TTTTGT[2] rs746035349
NM_015450.3(POT1):c.1793-20TTTTGT[4] rs746035349
NM_015450.3(POT1):c.1793-3T>G rs2116403760
NM_015450.3(POT1):c.1793-4G>A
NM_015450.3(POT1):c.1793-5T>C
NM_015450.3(POT1):c.1793-6T>C
NM_015450.3(POT1):c.1793-7T>G
NM_015450.3(POT1):c.1793-9T>A
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.1794T>C (p.Asp598=) rs2116403728
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.1797A>C (p.Ala599=) rs752430203
NM_015450.3(POT1):c.1799A>G (p.Tyr600Cys)
NM_015450.3(POT1):c.1800T>C (p.Tyr600=)
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.1809G>A (p.Leu603=) rs1584745590
NM_015450.3(POT1):c.180G>T (p.Leu60=)
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.1827A>G (p.Ser609=)
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.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.1836C>T (p.Val612=)
NM_015450.3(POT1):c.1839A>C (p.Thr613=)
NM_015450.3(POT1):c.183C>G (p.Leu61=) rs1455799309
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.1860T>C (p.Ile620=) rs1584745529
NM_015450.3(POT1):c.1862G>T (p.Cys621Phe) rs2116403364
NM_015450.3(POT1):c.1863C>T (p.Cys621=) rs2116403353
NM_015450.3(POT1):c.1865A>C (p.Tyr622Ser) rs760062934
NM_015450.3(POT1):c.1869G>A (p.Gln623=) rs587777478
NM_015450.3(POT1):c.1869G>C (p.Gln623His) rs587777478
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.1881C>A (p.Thr627=) rs1584745500
NM_015450.3(POT1):c.1881C>G (p.Thr627=)
NM_015450.3(POT1):c.1882A>G (p.Thr628Ala) rs1260196051
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.1895A>T (p.Asp632Val)
NM_015450.3(POT1):c.1896T>G (p.Asp632Glu) rs2116403163
NM_015450.3(POT1):c.1899A>C (p.Val633=)
NM_015450.3(POT1):c.1901T>C (p.Ile634Thr) rs2116403131
NM_015450.3(POT1):c.1902C>A (p.Ile634=) rs1584745478
NM_015450.3(POT1):c.1902C>G (p.Ile634Met)
NM_015450.3(POT1):c.191del (p.Gly64fs) rs1795853533
NM_015450.3(POT1):c.192A>G (p.Gly64=)
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.208C>G (p.Pro70Ala)
NM_015450.3(POT1):c.208C>T (p.Pro70Ser)
NM_015450.3(POT1):c.212_213delinsCC (p.Ile71Thr)
NM_015450.3(POT1):c.212dup (p.Ile72fs) rs1795852638
NM_015450.3(POT1):c.217T>C (p.Tyr73His)
NM_015450.3(POT1):c.217del (p.Tyr73fs)
NM_015450.3(POT1):c.220A>G (p.Lys74Glu)
NM_015450.3(POT1):c.222A>G (p.Lys74=)
NM_015450.3(POT1):c.223A>C (p.Asn75His)
NM_015450.3(POT1):c.224del (p.Asn75fs)
NM_015450.3(POT1):c.224dup (p.Asn75fs) rs2116567355
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.234T>A (p.Ile78=) rs1554429191
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.250C>T (p.Leu84=)
NM_015450.3(POT1):c.252G>A (p.Leu84=) rs1584777703
NM_015450.3(POT1):c.255+11T>C rs2116567164
NM_015450.3(POT1):c.255+12A>G
NM_015450.3(POT1):c.255+15G>A
NM_015450.3(POT1):c.255+15G>T
NM_015450.3(POT1):c.255+19A>G rs2116567149
NM_015450.3(POT1):c.255+1G>A rs1584777699
NM_015450.3(POT1):c.255+1G>T rs1584777699
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.255G>A (p.Lys85=) rs747851551
NM_015450.3(POT1):c.256-10A>T rs760102890
NM_015450.3(POT1):c.256-11T>C
NM_015450.3(POT1):c.256-15G>A rs1795654662
NM_015450.3(POT1):c.256-19C>T
NM_015450.3(POT1):c.256-20A>G rs2116542940
NM_015450.3(POT1):c.256-3T>C rs760801846
NM_015450.3(POT1):c.256-5C>A
NM_015450.3(POT1):c.256-6T>C rs771143778
NM_015450.3(POT1):c.258T>C (p.Ile86=)
NM_015450.3(POT1):c.258dup (p.Gln87fs) rs1230015941
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.265_273delinsAATCTT (p.Tyr89_Lys91delinsAsnLeu)
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.270A>G (p.Lys90=) rs1795653104
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.279T>G (p.Thr93=) rs2116542682
NM_015450.3(POT1):c.279_280del (p.Gln94fs) rs2116542675
NM_015450.3(POT1):c.27T>C (p.Tyr9=)
NM_015450.3(POT1):c.281A>G (p.Gln94Arg) rs1795652696
NM_015450.3(POT1):c.281_282del (p.Gln94fs) rs1397398300
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.285_286insCT (p.Ile96fs) rs1795652293
NM_015450.3(POT1):c.288C>A (p.Ile96=) rs2116542595
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.291C>T (p.Thr97=) rs1463377098
NM_015450.3(POT1):c.292A>C (p.Ser98Arg) rs2116542562
NM_015450.3(POT1):c.295T>C (p.Ser99Pro)
NM_015450.3(POT1):c.297T>C (p.Ser99=)
NM_015450.3(POT1):c.299G>C (p.Gly100Ala)
NM_015450.3(POT1):c.2T>C (p.Met1Thr) rs2116643224
NM_015450.3(POT1):c.2_9dup (p.Val4fs) rs1796511665
NM_015450.3(POT1):c.2del (p.Met1fs)
NM_015450.3(POT1):c.308C>T (p.Ser103Phe) rs2116542498
NM_015450.3(POT1):c.309T>A (p.Ser103=)
NM_015450.3(POT1):c.30A>T (p.Ile10=) rs367937904
NM_015450.3(POT1):c.312_369dup (p.Asn124delinsAspValTer)
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.315G>T (p.Thr105=) rs377547236
NM_015450.3(POT1):c.317T>G (p.Phe106Cys) rs2116542450
NM_015450.3(POT1):c.323G>A (p.Gly108Glu) rs1290433563
NM_015450.3(POT1):c.324A>G (p.Gly108=)
NM_015450.3(POT1):c.327T>C (p.Thr109=)
NM_015450.3(POT1):c.329dup (p.Leu110fs) rs2116542410
NM_015450.3(POT1):c.32A>G (p.Tyr11Cys)
NM_015450.3(POT1):c.331G>A (p.Gly111Arg) rs1554426987
NM_015450.3(POT1):c.336C>A (p.Ala112=) rs1584773064
NM_015450.3(POT1):c.336C>T (p.Ala112=)
NM_015450.3(POT1):c.338C>G (p.Pro113Arg)
NM_015450.3(POT1):c.338C>T (p.Pro113Leu) rs1554426986
NM_015450.3(POT1):c.33T>G (p.Tyr11Ter)
NM_015450.3(POT1):c.340A>C (p.Ile114Leu) rs146552802
NM_015450.3(POT1):c.341T>A (p.Ile114Asn)
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>A (p.Arg117Ser)
NM_015450.3(POT1):c.349C>G (p.Arg117Gly)
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.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.359G>C (p.Ser120Thr)
NM_015450.3(POT1):c.363G>A (p.Lys121=)
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.366T>C (p.Tyr122=) rs2116542176
NM_015450.3(POT1):c.36_37dup (p.Pro13fs)
NM_015450.3(POT1):c.371del (p.Asn124fs)
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.376A>G (p.Thr126Ala)
NM_015450.3(POT1):c.381T>C (p.Thr127=) rs2116542100
NM_015450.3(POT1):c.384G>A (p.Glu128=)
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.399A>T (p.Val133=) rs2116542001
NM_015450.3(POT1):c.3G>A (p.Met1Ile)
NM_015450.3(POT1):c.402A>G (p.Glu134=)
NM_015450.3(POT1):c.405C>A (p.Ala135=) rs2116541988
NM_015450.3(POT1):c.405C>T (p.Ala135=)
NM_015450.3(POT1):c.406T>G (p.Leu136Val)
NM_015450.3(POT1):c.40C>T (p.Leu14=)
NM_015450.3(POT1):c.410G>A (p.Arg137His) rs587777475
NM_015450.3(POT1):c.411T>G (p.Arg137=) rs2116541924
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.42G>T (p.Leu14=) rs1584792022
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.43_58del (p.Asn15fs) rs1796391959
NM_015450.3(POT1):c.441T>C (p.Ser147=) rs760889677
NM_015450.3(POT1):c.449T>G (p.Leu150Ter) rs918544320
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>A (p.Gln157=) rs1795646837
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.480G>A (p.Gln160=) rs2116541535
NM_015450.3(POT1):c.481T>C (p.Tyr161His) rs1795646570
NM_015450.3(POT1):c.486T>C (p.Phe162=)
NM_015450.3(POT1):c.488A>T (p.Asp163Val)
NM_015450.3(POT1):c.489C>T (p.Asp163=)
NM_015450.3(POT1):c.490C>T (p.Leu164=)
NM_015450.3(POT1):c.492G>A (p.Leu164=)
NM_015450.3(POT1):c.494C>A (p.Thr165Asn)
NM_015450.3(POT1):c.505T>C (p.Leu169=)
NM_015450.3(POT1):c.506T>C (p.Leu169Ser)
NM_015450.3(POT1):c.507G>A (p.Leu169=) rs2116541438
NM_015450.3(POT1):c.508G>A (p.Gly170Ser) rs1584772921
NM_015450.3(POT1):c.510C>A (p.Gly170=) rs2116541411
NM_015450.3(POT1):c.515C>T (p.Ala172Val)
NM_015450.3(POT1):c.516A>G (p.Ala172=) rs767849387
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.529G>A (p.Ala177Thr) rs1795645494
NM_015450.3(POT1):c.533C>T (p.Ser178Leu) rs1584772907
NM_015450.3(POT1):c.533del (p.Ser178fs)
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.546+12T>C
NM_015450.3(POT1):c.546+18C>G
NM_015450.3(POT1):c.546+1G>A rs1795645080
NM_015450.3(POT1):c.546+20G>A
NM_015450.3(POT1):c.546+2T>G
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.546+7A>G rs2116541179
NM_015450.3(POT1):c.546G>C (p.Lys182Asn)
NM_015450.3(POT1):c.547-10C>G rs1413025095
NM_015450.3(POT1):c.547-10C>T rs1413025095
NM_015450.3(POT1):c.547-12C>G
NM_015450.3(POT1):c.547-12C>T
NM_015450.3(POT1):c.547-13T>G
NM_015450.3(POT1):c.547-14C>A
NM_015450.3(POT1):c.547-14C>G
NM_015450.3(POT1):c.547-15A>C rs769778931
NM_015450.3(POT1):c.547-15A>G
NM_015450.3(POT1):c.547-16T>A
NM_015450.3(POT1):c.547-16T>C rs369396080
NM_015450.3(POT1):c.547-17C>G
NM_015450.3(POT1):c.547-20A>G rs1419463013
NM_015450.3(POT1):c.547-3C>T rs770890978
NM_015450.3(POT1):c.547-4G>A rs746483447
NM_015450.3(POT1):c.547-7A>G
NM_015450.3(POT1):c.547-7A>T
NM_015450.3(POT1):c.549A>T (p.Val183=)
NM_015450.3(POT1):c.550T>C (p.Trp184Arg) rs2116526752
NM_015450.3(POT1):c.552G>C (p.Trp184Cys)
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.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.55G>A (p.Gly19Ser)
NM_015450.3(POT1):c.560C>G (p.Thr187Ser) rs1562990972
NM_015450.3(POT1):c.561C>A (p.Thr187=) rs1293186024
NM_015450.3(POT1):c.561C>G (p.Thr187=) rs1293186024
NM_015450.3(POT1):c.561C>T (p.Thr187=) rs1293186024
NM_015450.3(POT1):c.562A>G (p.Arg188Gly)
NM_015450.3(POT1):c.562_563del (p.Arg188fs) rs2116526564
NM_015450.3(POT1):c.566C>T (p.Thr189Ile) rs1795518878
NM_015450.3(POT1):c.567_568del (p.Pro190fs)
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.574C>G (p.Pro192Ala)
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.582G>A (p.Trp194Ter)
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.5C>T (p.Ser2Phe)
NM_015450.3(POT1):c.601C>G (p.Leu201Val) rs2116526207
NM_015450.3(POT1):c.605T>C (p.Val202Ala)
NM_015450.3(POT1):c.608T>G (p.Leu203Arg) rs1562990940
NM_015450.3(POT1):c.609T>G (p.Leu203=)
NM_015450.3(POT1):c.60T>C (p.Gly20=)
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.618T>C (p.Asp206=) rs1170213047
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.621A>G (p.Leu207=)
NM_015450.3(POT1):c.627C>T (p.His209=) rs2116525937
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.630C>A (p.Ile210=)
NM_015450.3(POT1):c.631dup (p.His211fs) rs2116525878
NM_015450.3(POT1):c.632A>G (p.His211Arg)
NM_015450.3(POT1):c.634C>T (p.Arg212Trp) rs1444551164
NM_015450.3(POT1):c.636G>A (p.Arg212=) rs1554425745
NM_015450.3(POT1):c.636G>C (p.Arg212=) rs1554425745
NM_015450.3(POT1):c.641A>G (p.Gln214Arg) rs2116525724
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.645T>A (p.Asn215Lys)
NM_015450.3(POT1):c.648G>A (p.Leu216=) rs2116525658
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.654A>T (p.Ile218=)
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.669C>G (p.Tyr223Ter) rs1307901642
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.697C>T (p.Leu233=) rs1554425714
NM_015450.3(POT1):c.700A>G (p.Lys234Glu) rs1795514285
NM_015450.3(POT1):c.702+10A>G
NM_015450.3(POT1):c.702+11G>A
NM_015450.3(POT1):c.702+11G>T rs1795512864
NM_015450.3(POT1):c.702+1G>A rs2116525031
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+7del rs2116524985
NM_015450.3(POT1):c.702+8A>G
NM_015450.3(POT1):c.702+8_702+9delinsTG rs36069303
NM_015450.3(POT1):c.702+9T>A rs6977407
NM_015450.3(POT1):c.702+9_702+10insG rs2116524893
NM_015450.3(POT1):c.703-1218C>T
NM_015450.3(POT1):c.703-12T>C
NM_015450.3(POT1):c.703-14G>C
NM_015450.3(POT1):c.703-16A>G
NM_015450.3(POT1):c.703-18A>G
NM_015450.3(POT1):c.703-19C>G
NM_015450.3(POT1):c.703-1G>A rs2116505401
NM_015450.3(POT1):c.703-2A>C rs1795356111
NM_015450.3(POT1):c.703-2A>T
NM_015450.3(POT1):c.703-3T>G rs1584765787
NM_015450.3(POT1):c.703-3del rs1584765789
NM_015450.3(POT1):c.703-3dup rs1584765789
NM_015450.3(POT1):c.706G>A (p.Gly236Arg)
NM_015450.3(POT1):c.709A>C (p.Ser237Arg) rs1554424059
NM_015450.3(POT1):c.711C>T (p.Ser237=) rs1455456209
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.717T>C (p.Leu239=) rs1584765768
NM_015450.3(POT1):c.719del (p.Arg240fs) rs2116505279
NM_015450.3(POT1):c.721A>G (p.Ile241Val)
NM_015450.3(POT1):c.723C>T (p.Ile241=) rs371599223
NM_015450.3(POT1):c.729C>T (p.Ser243=) rs2116505184
NM_015450.3(POT1):c.72T>A (p.Asn24Lys) rs774667836
NM_015450.3(POT1):c.735T>C (p.His245=) rs2116505155
NM_015450.3(POT1):c.737C>G (p.Thr246Ser)
NM_015450.3(POT1):c.739A>T (p.Lys247Ter)
NM_015450.3(POT1):c.740A>G (p.Lys247Arg) rs1795354672
NM_015450.3(POT1):c.741A>G (p.Lys247=) rs2116505118
NM_015450.3(POT1):c.744_745insA (p.Gln249fs) rs2116505095
NM_015450.3(POT1):c.747A>C (p.Gln249His) rs35361862
NM_015450.3(POT1):c.750A>C (p.Ser250=) rs1463033972
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.759A>C (p.Ser253=)
NM_015450.3(POT1):c.759A>G (p.Ser253=)
NM_015450.3(POT1):c.766C>T (p.Gln256Ter)
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.777_781del (p.Leu259fs) rs2116504894
NM_015450.3(POT1):c.779G>A (p.Ser260Asn) rs1323715274
NM_015450.3(POT1):c.782T>G (p.Leu261Ter) rs1795353084
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.800G>A (p.Gly267Glu) rs2116504781
NM_015450.3(POT1):c.801A>G (p.Gly267=) rs1554423995
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>A (p.Ser270Asn) rs587777477
NM_015450.3(POT1):c.809G>C (p.Ser270Thr)
NM_015450.3(POT1):c.812dup (p.Tyr271Ter)
NM_015450.3(POT1):c.814G>T (p.Gly272Cys) rs781279819
NM_015450.3(POT1):c.815G>T (p.Gly272Val) rs1795351848
NM_015450.3(POT1):c.816T>C (p.Gly272=) rs2116504647
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.818G>A (p.Arg273Gln) rs587777476
NM_015450.3(POT1):c.818G>T (p.Arg273Leu) rs587777476
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.822A>C (p.Gly274=) rs1584765621
NM_015450.3(POT1):c.822A>G (p.Gly274=) rs1584765621
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.831C>A (p.Val277=) rs2116504500
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.837A>G (p.Pro279=) rs749530809
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.848_849del (p.Asn282_Ser283insTer)
NM_015450.3(POT1):c.849T>C (p.Ser283=) rs750223464
NM_015450.3(POT1):c.851A>G (p.Asp284Gly)
NM_015450.3(POT1):c.851A>T (p.Asp284Val)
NM_015450.3(POT1):c.854_855del (p.Val285fs)
NM_015450.3(POT1):c.856G>A (p.Asp286Asn) rs1460322063
NM_015450.3(POT1):c.861A>G (p.Gln287=)
NM_015450.3(POT1):c.863T>G (p.Leu288Arg)
NM_015450.3(POT1):c.867A>G (p.Lys289=)
NM_015450.3(POT1):c.869+13T>C
NM_015450.3(POT1):c.869+14del
NM_015450.3(POT1):c.869+17del
NM_015450.3(POT1):c.869+19G>C
NM_015450.3(POT1):c.869+1G>T
NM_015450.3(POT1):c.869+20A>C
NM_015450.3(POT1):c.869+20A>G
NM_015450.3(POT1):c.869+4A>T rs2116504239
NM_015450.3(POT1):c.869+4del rs1445280218
NM_015450.3(POT1):c.869+6C>A
NM_015450.3(POT1):c.869+8T>C rs2116504224
NM_015450.3(POT1):c.869A>T (p.Lys290Met) rs1795349533
NM_015450.3(POT1):c.870-13C>A
NM_015450.3(POT1):c.870-14T>A
NM_015450.3(POT1):c.870-18G>A rs1795319683
NM_015450.3(POT1):c.870-18G>C rs1795319683
NM_015450.3(POT1):c.870-20T>A rs2116501262
NM_015450.3(POT1):c.870-3T>G
NM_015450.3(POT1):c.870-4A>G rs2116501208
NM_015450.3(POT1):c.870-7A>C
NM_015450.3(POT1):c.870-7A>G rs372566252
NM_015450.3(POT1):c.870-7A>T rs372566252
NM_015450.3(POT1):c.870-9C>A rs1584764978
NM_015450.3(POT1):c.870-9C>G
NM_015450.3(POT1):c.870G>A (p.Lys290=)
NM_015450.3(POT1):c.873_885del (p.Asp291fs) rs2116501128
NM_015450.3(POT1):c.877G>A (p.Glu293Lys)
NM_015450.3(POT1):c.878A>T (p.Glu293Val)
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.882T>G (p.Ser294=)
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.892del (p.Thr298fs)
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+10T>A rs369023903
NM_015450.3(POT1):c.9+11A>G
NM_015450.3(POT1):c.9+12T>G rs751575991
NM_015450.3(POT1):c.9+16G>A
NM_015450.3(POT1):c.9+1G>A
NM_015450.3(POT1):c.9+20A>C rs2116643046
NM_015450.3(POT1):c.9+3A>G rs372320290
NM_015450.3(POT1):c.9+4A>C
NM_015450.3(POT1):c.9+4A>G rs2116643174
NM_015450.3(POT1):c.9+4_9+6del rs1442340607
NM_015450.3(POT1):c.9+5G>T
NM_015450.3(POT1):c.9+7T>C rs1003931714
NM_015450.3(POT1):c.9+8G>T rs767433441
NM_015450.3(POT1):c.901C>A (p.Gln301Lys) rs763135130
NM_015450.3(POT1):c.903G>C (p.Gln301His) rs116916706
NM_015450.3(POT1):c.908C>T (p.Ser303Leu) rs1795316757
NM_015450.3(POT1):c.909A>G (p.Ser303=)
NM_015450.3(POT1):c.910G>C (p.Asp304His)
NM_015450.3(POT1):c.910dup (p.Asp304fs)
NM_015450.3(POT1):c.911A>T (p.Asp304Val)
NM_015450.3(POT1):c.912T>A (p.Asp304Glu) rs2116500951
NM_015450.3(POT1):c.916A>T (p.Ile306Phe) rs1415345156
NM_015450.3(POT1):c.921T>A (p.Cys307Ter)
NM_015450.3(POT1):c.925T>C (p.Ser309Pro) rs1584764901
NM_015450.3(POT1):c.926C>G (p.Ser309Ter) rs746091720
NM_015450.3(POT1):c.927A>G (p.Ser309=) rs2116500882
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.93C>A (p.Phe31Leu) rs1584791969
NM_015450.3(POT1):c.93C>T (p.Phe31=) 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.942C>T (p.Ser314=) rs1554423491
NM_015450.3(POT1):c.945T>C (p.Phe315=)
NM_015450.3(POT1):c.949+14T>G
NM_015450.3(POT1):c.949+15T>C rs934805114
NM_015450.3(POT1):c.949+19A>C
NM_015450.3(POT1):c.949+1G>C
NM_015450.3(POT1):c.949+20T>C
NM_015450.3(POT1):c.949+2T>G rs2116500720
NM_015450.3(POT1):c.949+5G>A rs1795315062
NM_015450.3(POT1):c.949+7A>G
NM_015450.3(POT1):c.949+9_949+11dup
NM_015450.3(POT1):c.949A>G (p.Ser317Gly) rs1554423487
NM_015450.3(POT1):c.950-10C>A rs932001885
NM_015450.3(POT1):c.950-17C>G
NM_015450.3(POT1):c.950-17C>T
NM_015450.3(POT1):c.950-18del
NM_015450.3(POT1):c.950-19del rs755201498
NM_015450.3(POT1):c.950-6_950-5del rs983350793
NM_015450.3(POT1):c.950-7T>C rs201230597
NM_015450.3(POT1):c.950-8T>G rs1370674454
NM_015450.3(POT1):c.950-915C>T
NM_015450.3(POT1):c.950G>C (p.Ser317Thr)
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>C (p.Gly319=) rs1301910586
NM_015450.3(POT1):c.957A>G (p.Gly319=)
NM_015450.3(POT1):c.957A>T (p.Gly319=) rs1301910586
NM_015450.3(POT1):c.960A>T (p.Ser320=)
NM_015450.3(POT1):c.961G>C (p.Val321Leu) rs764369599
NM_015450.3(POT1):c.962T>C (p.Val321Ala)
NM_015450.3(POT1):c.963A>G (p.Val321=)
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.966A>G (p.Ser322=) rs1350554685
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.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.986G>T (p.Cys329Phe)
NM_015450.3(POT1):c.989A>G (p.Gln330Arg) rs2116483950
NM_015450.3(POT1):c.990A>G (p.Gln330=)
NM_015450.3(POT1):c.992A>G (p.Gln331Arg) rs1795184096
NM_015450.3(POT1):c.995T>C (p.Leu332Pro)
Single allele

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