ClinVar Miner

List of variants in gene POT1 reported by Ambry Genetics

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 871
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HGVS dbSNP gnomAD frequency
NM_015450.3(POT1):c.1884A>C (p.Thr628=) rs17147565 0.03412
NM_015450.3(POT1):c.1687-5T>A rs35062732 0.00699
NM_015450.3(POT1):c.903G>T (p.Gln301His) rs116916706 0.00304
NM_015450.3(POT1):c.924A>G (p.Gln308=) rs34398311 0.00206
NM_015450.3(POT1):c.751A>G (p.Met251Val) rs148397357 0.00171
NM_015450.3(POT1):c.828G>A (p.Arg276=) rs76496261 0.00106
NM_015450.3(POT1):c.1022A>G (p.Gln341Arg) rs554325914 0.00098
NM_015450.3(POT1):c.1127A>G (p.Gln376Arg) rs143635917 0.00042
NM_015450.3(POT1):c.846C>T (p.Asn282=) rs142704514 0.00035
NM_015450.3(POT1):c.340A>G (p.Ile114Val) rs146552802 0.00027
NM_015450.3(POT1):c.948A>G (p.Pro316=) rs1453776479 0.00023
NM_015450.3(POT1):c.1228G>C (p.Asp410His) rs79314063 0.00022
NM_015450.3(POT1):c.1227A>C (p.Pro409=) rs552835784 0.00020
NM_015450.3(POT1):c.64A>G (p.Ile22Val) rs375440229 0.00019
NM_015450.3(POT1):c.1023G>A (p.Gln341=) rs147003926 0.00016
NM_015450.3(POT1):c.670G>A (p.Asp224Asn) rs202187871 0.00012
NM_015450.3(POT1):c.813C>T (p.Tyr271=) rs61756407 0.00011
NM_015450.3(POT1):c.1338G>A (p.Pro446=) rs185651210 0.00010
NM_015450.3(POT1):c.771A>T (p.Thr257=) rs762679439 0.00010
NM_015450.3(POT1):c.1217C>T (p.Thr406Ile) rs143841721 0.00006
NM_015450.3(POT1):c.1416T>G (p.Ser472Arg) rs146643991 0.00006
NM_015450.3(POT1):c.1841A>G (p.Asn614Ser) rs202024401 0.00006
NM_015450.3(POT1):c.939C>T (p.Asp313=) rs746756338 0.00006
NM_015450.3(POT1):c.526G>A (p.Gly176Arg) rs774576173 0.00005
NM_015450.3(POT1):c.1087C>T (p.Arg363Ter) rs756198077 0.00004
NM_015450.3(POT1):c.1168G>A (p.Glu390Lys) rs769997937 0.00004
NM_015450.3(POT1):c.1178A>G (p.His393Arg) rs746416077 0.00004
NM_015450.3(POT1):c.1186G>A (p.Asp396Asn) rs148956533 0.00004
NM_015450.3(POT1):c.1283A>G (p.Asn428Ser) rs747149913 0.00004
NM_015450.3(POT1):c.1401G>A (p.Ser467=) rs775385144 0.00004
NM_015450.3(POT1):c.1442A>G (p.Glu481Gly) rs548024862 0.00004
NM_015450.3(POT1):c.1482A>G (p.Ile494Met) rs764303246 0.00004
NM_015450.3(POT1):c.1803G>A (p.Pro601=) rs754981355 0.00004
NM_015450.3(POT1):c.1877A>T (p.Asp626Val) rs545521975 0.00004
NM_015450.3(POT1):c.438G>A (p.Pro146=) rs373691389 0.00004
NM_015450.3(POT1):c.703G>A (p.Val235Ile) rs753638532 0.00004
NM_015450.3(POT1):c.879A>G (p.Glu293=) rs759178052 0.00004
NM_015450.3(POT1):c.1071dup (p.Gln358fs) rs750470470 0.00003
NM_015450.3(POT1):c.1077A>G (p.Gln359=) rs539321499 0.00003
NM_015450.3(POT1):c.1088G>A (p.Arg363Gln) rs141407528 0.00003
NM_015450.3(POT1):c.1214C>T (p.Ala405Val) rs904242272 0.00003
NM_015450.3(POT1):c.1256A>G (p.Tyr419Cys) rs770213689 0.00003
NM_015450.3(POT1):c.1295G>A (p.Arg432Gln) rs772590775 0.00003
NM_015450.3(POT1):c.1441G>A (p.Glu481Lys) rs200494750 0.00003
NM_015450.3(POT1):c.1490C>A (p.Thr497Lys) rs879897044 0.00003
NM_015450.3(POT1):c.1594G>C (p.Ala532Pro) rs537377921 0.00003
NM_015450.3(POT1):c.1665A>G (p.Leu555=) rs776373931 0.00003
NM_015450.3(POT1):c.1742A>G (p.Lys581Arg) rs201023336 0.00003
NM_015450.3(POT1):c.1797A>G (p.Ala599=) rs752430203 0.00003
NM_015450.3(POT1):c.1810G>A (p.Glu604Lys) rs753762757 0.00003
NM_015450.3(POT1):c.525C>T (p.Asp175=) rs761930094 0.00003
NM_015450.3(POT1):c.576A>G (p.Pro192=) rs1450319624 0.00003
NM_015450.3(POT1):c.71A>G (p.Asn24Ser) rs372235657 0.00003
NM_015450.3(POT1):c.896C>T (p.Ala299Val) rs913532816 0.00003
NM_015450.3(POT1):c.972C>T (p.Tyr324=) rs758749502 0.00003
NM_015450.3(POT1):c.977T>C (p.Val326Ala) rs75932146 0.00003
NM_015450.3(POT1):c.1142A>G (p.His381Arg) rs1342448188 0.00002
NM_015450.3(POT1):c.1164-1G>A rs866612394 0.00002
NM_015450.3(POT1):c.1183G>A (p.Gly395Ser) rs757373061 0.00002
NM_015450.3(POT1):c.1284T>C (p.Asn428=) rs141341950 0.00002
NM_015450.3(POT1):c.1287A>C (p.Gln429His) rs777842421 0.00002
NM_015450.3(POT1):c.1337C>T (p.Pro446Leu) rs761176134 0.00002
NM_015450.3(POT1):c.141A>G (p.Val47=) rs1056627672 0.00002
NM_015450.3(POT1):c.1440C>T (p.His480=) rs777152247 0.00002
NM_015450.3(POT1):c.1568C>G (p.Ser523Trp) rs139388603 0.00002
NM_015450.3(POT1):c.1569G>A (p.Ser523=) rs773176095 0.00002
NM_015450.3(POT1):c.1606G>A (p.Val536Ile) rs1174783791 0.00002
NM_015450.3(POT1):c.1807T>C (p.Leu603=) rs375110259 0.00002
NM_015450.3(POT1):c.1864T>C (p.Tyr622His) rs188854542 0.00002
NM_015450.3(POT1):c.239G>A (p.Arg80His) rs868664738 0.00002
NM_015450.3(POT1):c.30A>G (p.Ile10Met) rs367937904 0.00002
NM_015450.3(POT1):c.439T>G (p.Ser147Ala) rs766947417 0.00002
NM_015450.3(POT1):c.449T>C (p.Leu150Ser) rs918544320 0.00002
NM_015450.3(POT1):c.567A>G (p.Thr189=) rs763145744 0.00002
NM_015450.3(POT1):c.623G>A (p.Ser208Asn) rs776459318 0.00002
NM_015450.3(POT1):c.70A>G (p.Asn24Asp) rs201796132 0.00002
NM_015450.3(POT1):c.747A>G (p.Gln249=) rs35361862 0.00002
NM_015450.3(POT1):c.763A>C (p.Asn255His) rs1260902476 0.00002
NM_015450.3(POT1):c.769A>G (p.Thr257Ala) rs763712423 0.00002
NM_015450.3(POT1):c.814G>A (p.Gly272Ser) rs781279819 0.00002
NM_015450.3(POT1):c.950-3T>C rs1345963992 0.00002
NM_015450.3(POT1):c.978A>G (p.Val326=) rs143616208 0.00002
NM_015450.3(POT1):c.1007-1G>A rs1584758519 0.00001
NM_015450.3(POT1):c.1007-5T>C rs1584758541 0.00001
NM_015450.3(POT1):c.1021C>G (p.Gln341Glu) rs767757297 0.00001
NM_015450.3(POT1):c.1032G>A (p.Glu344=) rs1490433224 0.00001
NM_015450.3(POT1):c.1044A>G (p.Leu348=) rs769209315 0.00001
NM_015450.3(POT1):c.1050C>T (p.Ala350=) rs1199499328 0.00001
NM_015450.3(POT1):c.1067C>T (p.Ala356Val) rs1342019926 0.00001
NM_015450.3(POT1):c.1074A>G (p.Gln358=) rs779435986 0.00001
NM_015450.3(POT1):c.1082G>A (p.Arg361His) rs778352298 0.00001
NM_015450.3(POT1):c.1084A>G (p.Ile362Val) rs1460433561 0.00001
NM_015450.3(POT1):c.1106A>G (p.Tyr369Cys) rs763905854 0.00001
NM_015450.3(POT1):c.1107T>C (p.Tyr369=) rs762686878 0.00001
NM_015450.3(POT1):c.1120C>T (p.Leu374=) rs148091643 0.00001
NM_015450.3(POT1):c.1122A>C (p.Leu374=) rs143283657 0.00001
NM_015450.3(POT1):c.1130C>G (p.Ser377Cys) rs776187798 0.00001
NM_015450.3(POT1):c.1164-3T>C rs1322783514 0.00001
NM_015450.3(POT1):c.1167A>G (p.Gln389=) rs775913689 0.00001
NM_015450.3(POT1):c.1185C>T (p.Gly395=) rs538385307 0.00001
NM_015450.3(POT1):c.1213G>A (p.Ala405Thr) rs753851042 0.00001
NM_015450.3(POT1):c.1225C>T (p.Pro409Ser) rs1230052693 0.00001
NM_015450.3(POT1):c.1233C>T (p.Val411=) rs376273583 0.00001
NM_015450.3(POT1):c.1234A>G (p.Lys412Glu) rs371992419 0.00001
NM_015450.3(POT1):c.1246A>G (p.Thr416Ala) rs761543329 0.00001
NM_015450.3(POT1):c.1255T>C (p.Tyr419His) rs773811344 0.00001
NM_015450.3(POT1):c.1260T>C (p.Asp420=) rs933280158 0.00001
NM_015450.3(POT1):c.1269C>T (p.Ile423=) rs777159830 0.00001
NM_015450.3(POT1):c.1279A>G (p.Lys427Glu) rs771420212 0.00001
NM_015450.3(POT1):c.1315G>T (p.Val439Leu) rs547000637 0.00001
NM_015450.3(POT1):c.1322A>G (p.Asn441Ser) rs1477300313 0.00001
NM_015450.3(POT1):c.1333C>T (p.Leu445Phe) rs1416672170 0.00001
NM_015450.3(POT1):c.1359T>C (p.Leu453=) rs201869790 0.00001
NM_015450.3(POT1):c.1363A>G (p.Ile455Val) rs776965979 0.00001
NM_015450.3(POT1):c.1367A>C (p.Glu456Ala) rs771226403 0.00001
NM_015450.3(POT1):c.1378C>G (p.Leu460Val) rs772428072 0.00001
NM_015450.3(POT1):c.1394A>G (p.Lys465Arg) rs369417655 0.00001
NM_015450.3(POT1):c.1411A>C (p.Asn471His) rs1562977912 0.00001
NM_015450.3(POT1):c.1459G>A (p.Asp487Asn) rs1405688297 0.00001
NM_015450.3(POT1):c.1473A>G (p.Pro491=) rs1307654827 0.00001
NM_015450.3(POT1):c.1481T>A (p.Ile494Lys) rs774858551 0.00001
NM_015450.3(POT1):c.1492A>G (p.Ile498Val) rs367607560 0.00001
NM_015450.3(POT1):c.1505+3A>G rs1227070716 0.00001
NM_015450.3(POT1):c.1506-1G>A rs1418539002 0.00001
NM_015450.3(POT1):c.1523G>A (p.Ser508Asn) rs144522387 0.00001
NM_015450.3(POT1):c.1534A>G (p.Ile512Val) rs1179111946 0.00001
NM_015450.3(POT1):c.1545A>G (p.Leu515=) rs1794704486 0.00001
NM_015450.3(POT1):c.1555G>A (p.Val519Ile) rs776873207 0.00001
NM_015450.3(POT1):c.1559A>G (p.Asp520Gly) rs1370868219 0.00001
NM_015450.3(POT1):c.1562A>G (p.Lys521Arg) rs1482392861 0.00001
NM_015450.3(POT1):c.1565C>T (p.Thr522Ile) rs754745002 0.00001
NM_015450.3(POT1):c.1566A>G (p.Thr522=) rs746796357 0.00001
NM_015450.3(POT1):c.156G>A (p.Gln52=) rs974132941 0.00001
NM_015450.3(POT1):c.1585G>A (p.Val529Met) rs34973253 0.00001
NM_015450.3(POT1):c.1611C>T (p.Pro537=) rs1480046591 0.00001
NM_015450.3(POT1):c.1612C>G (p.Leu538Val) rs768610116 0.00001
NM_015450.3(POT1):c.1617A>T (p.Gln539His) rs973319258 0.00001
NM_015450.3(POT1):c.1630A>G (p.Met544Val) rs762424988 0.00001
NM_015450.3(POT1):c.1678A>G (p.Met560Val) rs1351302431 0.00001
NM_015450.3(POT1):c.1702A>G (p.Ile568Val) rs150719673 0.00001
NM_015450.3(POT1):c.1707A>C (p.Pro569=) rs1218962425 0.00001
NM_015450.3(POT1):c.1717G>A (p.Val573Ile) rs780379750 0.00001
NM_015450.3(POT1):c.1724T>C (p.Met575Thr) rs1238381156 0.00001
NM_015450.3(POT1):c.1759A>G (p.Met587Val) rs757479590 0.00001
NM_015450.3(POT1):c.175T>G (p.Cys59Gly) rs1418472108 0.00001
NM_015450.3(POT1):c.1779A>G (p.Pro593=) rs1584746381 0.00001
NM_015450.3(POT1):c.1814G>C (p.Cys605Ser) rs766020213 0.00001
NM_015450.3(POT1):c.1815C>T (p.Cys605=) rs760056377 0.00001
NM_015450.3(POT1):c.1832A>G (p.Asn611Ser) rs376707680 0.00001
NM_015450.3(POT1):c.183C>T (p.Leu61=) rs1455799309 0.00001
NM_015450.3(POT1):c.1851T>C (p.Asp617=) rs142059197 0.00001
NM_015450.3(POT1):c.1865A>G (p.Tyr622Cys) rs760062934 0.00001
NM_015450.3(POT1):c.186T>C (p.Phe62=) rs1376049205 0.00001
NM_015450.3(POT1):c.1870A>G (p.Ile624Val) rs1410012081 0.00001
NM_015450.3(POT1):c.197A>G (p.Tyr66Cys) rs776085350 0.00001
NM_015450.3(POT1):c.19A>G (p.Thr7Ala) rs1584792050 0.00001
NM_015450.3(POT1):c.211A>G (p.Ile71Val) rs776844142 0.00001
NM_015450.3(POT1):c.224A>G (p.Asn75Ser) rs1044174795 0.00001
NM_015450.3(POT1):c.231T>C (p.Asp77=) rs1205715970 0.00001
NM_015450.3(POT1):c.233T>C (p.Ile78Thr) rs947005337 0.00001
NM_015450.3(POT1):c.238C>T (p.Arg80Cys) rs778692211 0.00001
NM_015450.3(POT1):c.264A>G (p.Val88=) rs1453961322 0.00001
NM_015450.3(POT1):c.273G>A (p.Lys91=) rs748016795 0.00001
NM_015450.3(POT1):c.290C>A (p.Thr97Asn) rs1436205180 0.00001
NM_015450.3(POT1):c.298G>A (p.Gly100Ser) rs1377594973 0.00001
NM_015450.3(POT1):c.29T>C (p.Ile10Thr) rs1397305271 0.00001
NM_015450.3(POT1):c.306A>G (p.Ala102=) rs1182980873 0.00001
NM_015450.3(POT1):c.315G>A (p.Thr105=) rs377547236 0.00001
NM_015450.3(POT1):c.31T>C (p.Tyr11His) rs1584792034 0.00001
NM_015450.3(POT1):c.323G>C (p.Gly108Ala) rs1290433563 0.00001
NM_015450.3(POT1):c.330G>A (p.Leu110=) rs779926456 0.00001
NM_015450.3(POT1):c.335C>T (p.Ala112Val) rs1795650931 0.00001
NM_015450.3(POT1):c.342C>G (p.Ile114Met) rs989904335 0.00001
NM_015450.3(POT1):c.343A>C (p.Ile115Leu) rs755644182 0.00001
NM_015450.3(POT1):c.344T>C (p.Ile115Thr) rs749877603 0.00001
NM_015450.3(POT1):c.395T>C (p.Met132Thr) rs564097106 0.00001
NM_015450.3(POT1):c.39C>T (p.Pro13=) rs544201070 0.00001
NM_015450.3(POT1):c.409C>T (p.Arg137Cys) rs765706794 0.00001
NM_015450.3(POT1):c.414T>C (p.Val138=) rs1182822582 0.00001
NM_015450.3(POT1):c.43A>C (p.Asn15His) rs1554434768 0.00001
NM_015450.3(POT1):c.447A>G (p.Thr149=) rs1469228736 0.00001
NM_015450.3(POT1):c.448T>C (p.Leu150=) rs1232926005 0.00001
NM_015450.3(POT1):c.44A>G (p.Asn15Ser) rs764821384 0.00001
NM_015450.3(POT1):c.475A>G (p.Met159Val) rs1449504013 0.00001
NM_015450.3(POT1):c.485T>A (p.Phe162Tyr) rs1357083058 0.00001
NM_015450.3(POT1):c.495T>C (p.Thr165=) rs773138295 0.00001
NM_015450.3(POT1):c.498T>C (p.Cys166=) rs1362261402 0.00001
NM_015450.3(POT1):c.512A>G (p.Lys171Arg) rs1284442583 0.00001
NM_015450.3(POT1):c.535T>C (p.Phe179Leu) rs775453323 0.00001
NM_015450.3(POT1):c.546+5A>G rs977061425 0.00001
NM_015450.3(POT1):c.546G>A (p.Lys182=) rs1280084769 0.00001
NM_015450.3(POT1):c.547-3C>A rs770890978 0.00001
NM_015450.3(POT1):c.547G>A (p.Val183Ile) rs1186225134 0.00001
NM_015450.3(POT1):c.557G>A (p.Gly186Asp) rs1205880072 0.00001
NM_015450.3(POT1):c.563G>C (p.Arg188Thr) rs1161774277 0.00001
NM_015450.3(POT1):c.588C>T (p.Val196=) rs1584769909 0.00001
NM_015450.3(POT1):c.630C>T (p.Ile210=) rs1188736928 0.00001
NM_015450.3(POT1):c.635G>A (p.Arg212Gln) rs746903370 0.00001
NM_015450.3(POT1):c.639A>G (p.Leu213=) rs1309356160 0.00001
NM_015450.3(POT1):c.651A>G (p.Thr217=) rs142390029 0.00001
NM_015450.3(POT1):c.653T>C (p.Ile218Thr) rs376770473 0.00001
NM_015450.3(POT1):c.657C>A (p.Asp219Glu) rs1795515779 0.00001
NM_015450.3(POT1):c.669C>T (p.Tyr223=) rs1307901642 0.00001
NM_015450.3(POT1):c.675C>T (p.Asn225=) rs1050055964 0.00001
NM_015450.3(POT1):c.684T>C (p.His228=) rs778643955 0.00001
NM_015450.3(POT1):c.688G>A (p.Ala230Thr) rs1315178609 0.00001
NM_015450.3(POT1):c.720A>G (p.Arg240=) rs766211616 0.00001
NM_015450.3(POT1):c.725A>G (p.Tyr242Cys) rs1188122279 0.00001
NM_015450.3(POT1):c.72T>C (p.Asn24=) rs774667836 0.00001
NM_015450.3(POT1):c.73G>A (p.Val25Ile) rs375825837 0.00001
NM_015450.3(POT1):c.753G>A (p.Met251Ile) rs1172142052 0.00001
NM_015450.3(POT1):c.768G>C (p.Gln256His) rs577386630 0.00001
NM_015450.3(POT1):c.77A>G (p.Tyr26Cys) rs1197625483 0.00001
NM_015450.3(POT1):c.841A>G (p.Ser281Gly) rs780098976 0.00001
NM_015450.3(POT1):c.853G>A (p.Val285Met) rs1795350062 0.00001
NM_015450.3(POT1):c.862C>T (p.Leu288=) rs199583149 0.00001
NM_015450.3(POT1):c.870-3T>C rs1291756890 0.00001
NM_015450.3(POT1):c.87G>A (p.Val29=) rs1481759760 0.00001
NM_015450.3(POT1):c.886A>G (p.Asn296Asp) rs767877070 0.00001
NM_015450.3(POT1):c.889T>G (p.Leu297Val) rs762044659 0.00001
NM_015450.3(POT1):c.898A>T (p.Asn300Tyr) rs774946163 0.00001
NM_015450.3(POT1):c.899A>G (p.Asn300Ser) rs573222502 0.00001
NM_015450.3(POT1):c.913G>A (p.Val305Ile) rs1444104997 0.00001
NM_015450.3(POT1):c.916A>G (p.Ile306Val) rs1415345156 0.00001
NM_015450.3(POT1):c.923A>G (p.Gln308Arg) rs1156231311 0.00001
NM_015450.3(POT1):c.933T>A (p.Pro311=) rs1183874128 0.00001
NM_015450.3(POT1):c.936C>T (p.Asp312=) rs35051558 0.00001
NM_015450.3(POT1):c.938A>T (p.Asp313Val) rs1584764879 0.00001
NM_015450.3(POT1):c.987T>C (p.Cys329=) rs765813344 0.00001
NM_015450.3(POT1):c.994C>T (p.Leu332=) rs138223484 0.00001
NM_015450.3(POT1):c.996A>G (p.Leu332=) rs1224859801 0.00001
NM_015450.3(POT1):c.-4A>G
NM_015450.3(POT1):c.10-2A>C rs1554434788
NM_015450.3(POT1):c.10-3T>C rs1796393484
NM_015450.3(POT1):c.10-5T>G
NM_015450.3(POT1):c.1003A>G (p.Thr335Ala)
NM_015450.3(POT1):c.1006+2T>C rs1795183662
NM_015450.3(POT1):c.1006+3A>G rs2116483768
NM_015450.3(POT1):c.1006+5G>A
NM_015450.3(POT1):c.1007-2_1009del rs754005964
NM_015450.3(POT1):c.1008A>T (p.Ile336=)
NM_015450.3(POT1):c.1009C>T (p.Leu337Phe) rs1795066742
NM_015450.3(POT1):c.100C>G (p.Pro34Ala)
NM_015450.3(POT1):c.100C>T (p.Pro34Ser)
NM_015450.3(POT1):c.1014A>G (p.Thr338=)
NM_015450.3(POT1):c.1016A>C (p.Asp339Ala)
NM_015450.3(POT1):c.1021C>T (p.Gln341Ter)
NM_015450.3(POT1):c.1023G>T (p.Gln341His)
NM_015450.3(POT1):c.1025A>G (p.Tyr342Cys)
NM_015450.3(POT1):c.1025A>T (p.Tyr342Phe)
NM_015450.3(POT1):c.1030G>A (p.Glu344Lys) rs951589289
NM_015450.3(POT1):c.1035G>A (p.Arg345=) rs1426607411
NM_015450.3(POT1):c.1036A>C (p.Thr346Pro)
NM_015450.3(POT1):c.1038A>G (p.Thr346=) rs762879798
NM_015450.3(POT1):c.1040C>T (p.Pro347Leu) rs775456070
NM_015450.3(POT1):c.1046G>A (p.Cys349Tyr)
NM_015450.3(POT1):c.104C>A (p.Pro35Gln)
NM_015450.3(POT1):c.1051A>C (p.Ile351Leu)
NM_015450.3(POT1):c.1059A>G (p.Lys353=)
NM_015450.3(POT1):c.105A>G (p.Pro35=) rs1348510446
NM_015450.3(POT1):c.1062A>G (p.Gln354=) rs2116468064
NM_015450.3(POT1):c.1065A>G (p.Lys355=)
NM_015450.3(POT1):c.1065_1067delinsGG (p.Ala356fs)
NM_015450.3(POT1):c.1065dup (p.Ala356fs) rs1225878757
NM_015450.3(POT1):c.1068T>C (p.Ala356=)
NM_015450.3(POT1):c.1069C>G (p.Pro357Ala) rs748578303
NM_015450.3(POT1):c.1071T>G (p.Pro357=)
NM_015450.3(POT1):c.1072CAA[1] (p.Gln359del) rs1461765375
NM_015450.3(POT1):c.1076A>G (p.Gln359Arg)
NM_015450.3(POT1):c.1078T>C (p.Tyr360His) rs1554420630
NM_015450.3(POT1):c.1079A>T (p.Tyr360Phe)
NM_015450.3(POT1):c.107A>G (p.Tyr36Cys) rs1057524691
NM_015450.3(POT1):c.1081C>T (p.Arg361Cys) rs372317646
NM_015450.3(POT1):c.1082G>T (p.Arg361Leu) rs778352298
NM_015450.3(POT1):c.1088G>T (p.Arg363Leu)
NM_015450.3(POT1):c.1089A>T (p.Arg363=)
NM_015450.3(POT1):c.108T>G (p.Tyr36Ter)
NM_015450.3(POT1):c.1096T>C (p.Leu366=) rs1554420623
NM_015450.3(POT1):c.1097T>C (p.Leu366Ser) rs1554420620
NM_015450.3(POT1):c.1098G>A (p.Leu366=)
NM_015450.3(POT1):c.109C>A (p.Leu37Ile)
NM_015450.3(POT1):c.1100G>A (p.Arg367Lys)
NM_015450.3(POT1):c.1101G>A (p.Arg367=)
NM_015450.3(POT1):c.1102T>A (p.Ser368Thr)
NM_015450.3(POT1):c.1104A>G (p.Ser368=) rs1381478448
NM_015450.3(POT1):c.1107del (p.Ser368_Tyr369insTer)
NM_015450.3(POT1):c.1112C>T (p.Pro371Leu)
NM_015450.3(POT1):c.1113C>T (p.Pro371=)
NM_015450.3(POT1):c.1113del (p.Arg372fs)
NM_015450.3(POT1):c.1116A>G (p.Arg372=) rs1249442758
NM_015450.3(POT1):c.1117A>G (p.Arg373Gly) rs971657671
NM_015450.3(POT1):c.1118G>A (p.Arg373Lys)
NM_015450.3(POT1):c.1119A>G (p.Arg373=)
NM_015450.3(POT1):c.1122A>G (p.Leu374=) rs143283657
NM_015450.3(POT1):c.1124T>C (p.Phe375Ser)
NM_015450.3(POT1):c.112A>T (p.Ser38Cys)
NM_015450.3(POT1):c.1130C>A (p.Ser377Tyr)
NM_015450.3(POT1):c.1131T>A (p.Ser377=)
NM_015450.3(POT1):c.1132G>C (p.Val378Leu) rs1245805221
NM_015450.3(POT1):c.1135A>T (p.Lys379Ter)
NM_015450.3(POT1):c.1139T>C (p.Leu380Pro)
NM_015450.3(POT1):c.113G>A (p.Ser38Asn) rs1796390486
NM_015450.3(POT1):c.113G>T (p.Ser38Ile) rs1796390486
NM_015450.3(POT1):c.1146C>T (p.Cys382=)
NM_015450.3(POT1):c.114C>G (p.Ser38Arg) rs1554434730
NM_015450.3(POT1):c.1150A>G (p.Lys384Glu) rs2116467412
NM_015450.3(POT1):c.1153T>C (p.Cys385Arg)
NM_015450.3(POT1):c.1156C>A (p.His386Asn) rs1168740597
NM_015450.3(POT1):c.1157A>G (p.His386Arg)
NM_015450.3(POT1):c.1161G>T (p.Leu387Phe) rs1584758342
NM_015450.3(POT1):c.1163+1G>A rs1562981766
NM_015450.3(POT1):c.1163+3_1163+6del rs1407823530
NM_015450.3(POT1):c.1164-4T>G rs1584757391
NM_015450.3(POT1):c.1164G>T (p.Leu388=) rs1405485811
NM_015450.3(POT1):c.116A>G (p.Lys39Arg) rs2116629538
NM_015450.3(POT1):c.1171G>A (p.Val391Ile)
NM_015450.3(POT1):c.1172T>C (p.Val391Ala)
NM_015450.3(POT1):c.1178A>T (p.His393Leu)
NM_015450.3(POT1):c.1181A>G (p.Glu394Gly) rs781625332
NM_015450.3(POT1):c.1184G>A (p.Gly395Asp) rs1584757364
NM_015450.3(POT1):c.1186G>C (p.Asp396His)
NM_015450.3(POT1):c.1187A>G (p.Asp396Gly) rs1584757355
NM_015450.3(POT1):c.1192G>T (p.Asp398Tyr)
NM_015450.3(POT1):c.1197A>G (p.Ile399Met) rs1554420158
NM_015450.3(POT1):c.1199T>C (p.Ile400Thr) rs1562980983
NM_015450.3(POT1):c.119G>A (p.Gly40Glu) rs2116629512
NM_015450.3(POT1):c.119G>C (p.Gly40Ala)
NM_015450.3(POT1):c.1205A>G (p.Gln402Arg) rs1646830386
NM_015450.3(POT1):c.1210G>A (p.Gly404Ser)
NM_015450.3(POT1):c.1211G>T (p.Gly404Val) rs35536751
NM_015450.3(POT1):c.1219A>G (p.Lys407Glu) rs766397437
NM_015450.3(POT1):c.1223C>T (p.Thr408Ile) rs2116461902
NM_015450.3(POT1):c.1224C>T (p.Thr408=)
NM_015450.3(POT1):c.1227A>G (p.Pro409=) rs552835784
NM_015450.3(POT1):c.1229A>G (p.Asp410Gly) rs1562980939
NM_015450.3(POT1):c.1237C>T (p.Leu413=)
NM_015450.3(POT1):c.1239A>G (p.Leu413=)
NM_015450.3(POT1):c.124+1G>A
NM_015450.3(POT1):c.124+5G>T rs1027069149
NM_015450.3(POT1):c.1244A>G (p.Asn415Ser)
NM_015450.3(POT1):c.1247C>T (p.Thr416Ile) rs1795017352
NM_015450.3(POT1):c.125-2A>G rs1562997292
NM_015450.3(POT1):c.125-3del rs1584777876
NM_015450.3(POT1):c.1251A>G (p.Ser417=) rs1554420121
NM_015450.3(POT1):c.1251del (p.Leu418fs)
NM_015450.3(POT1):c.1257T>C (p.Tyr419=) rs1584757255
NM_015450.3(POT1):c.1258G>T (p.Asp420Tyr) rs1795016740
NM_015450.3(POT1):c.125A>G (p.Asp42Gly) rs1562997283
NM_015450.3(POT1):c.1262C>T (p.Ser421Leu) rs1413163992
NM_015450.3(POT1):c.1263A>G (p.Ser421=)
NM_015450.3(POT1):c.1267A>G (p.Ile423Val)
NM_015450.3(POT1):c.1267A>T (p.Ile423Phe)
NM_015450.3(POT1):c.1268T>A (p.Ile423Asn)
NM_015450.3(POT1):c.126T>G (p.Asp42Glu) rs1554429221
NM_015450.3(POT1):c.1270T>C (p.Trp424Arg) rs1584757234
NM_015450.3(POT1):c.1273A>G (p.Thr425Ala) rs1173735920
NM_015450.3(POT1):c.1274C>T (p.Thr425Ile)
NM_015450.3(POT1):c.1280A>C (p.Lys427Thr) rs1187946222
NM_015450.3(POT1):c.1280A>G (p.Lys427Arg)
NM_015450.3(POT1):c.1285C>A (p.Gln429Lys) rs1584757207
NM_015450.3(POT1):c.1285C>T (p.Gln429Ter)
NM_015450.3(POT1):c.1286A>G (p.Gln429Arg)
NM_015450.3(POT1):c.1287A>G (p.Gln429=)
NM_015450.3(POT1):c.1289A>C (p.Lys430Thr) rs2116461480
NM_015450.3(POT1):c.128A>G (p.Tyr43Cys) rs1584777861
NM_015450.3(POT1):c.1290A>G (p.Lys430=) rs1562980850
NM_015450.3(POT1):c.1291G>A (p.Gly431Arg)
NM_015450.3(POT1):c.1293A>C (p.Gly431=)
NM_015450.3(POT1):c.1295G>C (p.Arg432Pro)
NM_015450.3(POT1):c.1300del (p.Lys433_Val434insTer) rs1795015022
NM_015450.3(POT1):c.1303G>A (p.Ala435Thr) rs567021227
NM_015450.3(POT1):c.1304C>G (p.Ala435Gly)
NM_015450.3(POT1):c.1305A>C (p.Ala435=) rs756111359
NM_015450.3(POT1):c.1305A>G (p.Ala435=) rs756111359
NM_015450.3(POT1):c.1305A>T (p.Ala435=) rs756111359
NM_015450.3(POT1):c.1305del (p.Val436fs) rs1584757180
NM_015450.3(POT1):c.1315G>A (p.Val439Met) rs547000637
NM_015450.3(POT1):c.1319A>G (p.Lys440Arg)
NM_015450.3(POT1):c.1322A>C (p.Asn441Thr) rs1477300313
NM_015450.3(POT1):c.1322dup (p.Asn441fs) rs1358966427
NM_015450.3(POT1):c.1324A>T (p.Asn442Tyr) rs2116461234
NM_015450.3(POT1):c.1327G>A (p.Gly443Ser)
NM_015450.3(POT1):c.1327G>T (p.Gly443Cys)
NM_015450.3(POT1):c.1329T>C (p.Gly443=)
NM_015450.3(POT1):c.132C>T (p.Cys44=)
NM_015450.3(POT1):c.1335C>T (p.Leu445=) rs1584757150
NM_015450.3(POT1):c.1338G>T (p.Pro446=) rs185651210
NM_015450.3(POT1):c.1340T>A (p.Leu447His) rs1450240396
NM_015450.3(POT1):c.1348G>A (p.Glu450Lys)
NM_015450.3(POT1):c.1351T>C (p.Cys451Arg)
NM_015450.3(POT1):c.1353T>C (p.Cys451=)
NM_015450.3(POT1):c.1356A>G (p.Leu452=) rs2116461050
NM_015450.3(POT1):c.1358T>G (p.Leu453Arg)
NM_015450.3(POT1):c.1360T>C (p.Leu454=) rs1554420018
NM_015450.3(POT1):c.1361T>G (p.Leu454Trp)
NM_015450.3(POT1):c.1364T>C (p.Ile455Thr)
NM_015450.3(POT1):c.1369+1G>A
NM_015450.3(POT1):c.1369+1G>T
NM_015450.3(POT1):c.1369+1_1369+5del rs750755822
NM_015450.3(POT1):c.1369G>A (p.Gly457Arg)
NM_015450.3(POT1):c.1370-3C>G rs1584753403
NM_015450.3(POT1):c.1372G>A (p.Gly458Ser) rs1794876267
NM_015450.3(POT1):c.1372G>T (p.Gly458Cys)
NM_015450.3(POT1):c.1373G>A (p.Gly458Asp) rs1562977976
NM_015450.3(POT1):c.1373G>T (p.Gly458Val)
NM_015450.3(POT1):c.1377A>C (p.Thr459=)
NM_015450.3(POT1):c.1381A>G (p.Ser461Gly)
NM_015450.3(POT1):c.1383T>A (p.Ser461Arg)
NM_015450.3(POT1):c.1389T>C (p.Ile463=) rs891347957
NM_015450.3(POT1):c.1393A>G (p.Lys465Glu) rs1246723310
NM_015450.3(POT1):c.1396C>G (p.Leu466Val) rs958828560
NM_015450.3(POT1):c.1398C>A (p.Leu466=) rs1794875043
NM_015450.3(POT1):c.13C>A (p.Pro5Thr) rs1378378085
NM_015450.3(POT1):c.1400C>T (p.Ser467Leu) rs1410842025
NM_015450.3(POT1):c.1402A>G (p.Asn468Asp)
NM_015450.3(POT1):c.1412A>G (p.Asn471Ser)
NM_015450.3(POT1):c.1413T>C (p.Asn471=)
NM_015450.3(POT1):c.1414A>C (p.Ser472Arg) rs769757327
NM_015450.3(POT1):c.1414A>T (p.Ser472Cys)
NM_015450.3(POT1):c.1415G>A (p.Ser472Asn)
NM_015450.3(POT1):c.1416T>C (p.Ser472=) rs146643991
NM_015450.3(POT1):c.1417G>A (p.Val473Ile)
NM_015450.3(POT1):c.1423C>G (p.Pro475Ala)
NM_015450.3(POT1):c.1426G>A (p.Val476Met)
NM_015450.3(POT1):c.142A>C (p.Thr48Pro)
NM_015450.3(POT1):c.142A>G (p.Thr48Ala) rs1298555006
NM_015450.3(POT1):c.1430G>A (p.Arg477Lys)
NM_015450.3(POT1):c.1434T>C (p.Ser478=) rs1562977862
NM_015450.3(POT1):c.1434T>G (p.Ser478=)
NM_015450.3(POT1):c.1435G>A (p.Gly479Ser)
NM_015450.3(POT1):c.143C>T (p.Thr48Ile) rs1002823146
NM_015450.3(POT1):c.1446C>G (p.Asp482Glu)
NM_015450.3(POT1):c.1449G>A (p.Leu483=) rs2116444113
NM_015450.3(POT1):c.1450G>A (p.Glu484Lys) rs756511762
NM_015450.3(POT1):c.1470A>G (p.Ala490=)
NM_015450.3(POT1):c.147del (p.Ile49fs) rs1064794328
NM_015450.3(POT1):c.1480A>C (p.Ile494Leu) rs1794871637
NM_015450.3(POT1):c.1481T>C (p.Ile494Thr) rs774858551
NM_015450.3(POT1):c.1487G>A (p.Gly496Glu)
NM_015450.3(POT1):c.148G>A (p.Val50Met)
NM_015450.3(POT1):c.1490C>T (p.Thr497Ile) rs879897044
NM_015450.3(POT1):c.1494A>G (p.Ile498Met) rs775892143
NM_015450.3(POT1):c.1494A>T (p.Ile498=)
NM_015450.3(POT1):c.1495C>T (p.His499Tyr)
NM_015450.3(POT1):c.1501T>C (p.Tyr501His) rs776299237
NM_015450.3(POT1):c.1502A>G (p.Tyr501Cys) rs1226322093
NM_015450.3(POT1):c.1504G>A (p.Gly502Arg)
NM_015450.3(POT1):c.150G>A (p.Val50=) rs1795855228
NM_015450.3(POT1):c.150G>T (p.Val50=)
NM_015450.3(POT1):c.1513C>G (p.Gln505Glu)
NM_015450.3(POT1):c.1514A>G (p.Gln505Arg) rs1794705650
NM_015450.3(POT1):c.1515G>A (p.Gln505=) rs1794705540
NM_015450.3(POT1):c.1515G>C (p.Gln505His)
NM_015450.3(POT1):c.1516T>C (p.Cys506Arg)
NM_015450.3(POT1):c.1517G>A (p.Cys506Tyr)
NM_015450.3(POT1):c.1520C>T (p.Ser507Phe)
NM_015450.3(POT1):c.1523G>T (p.Ser508Ile) rs144522387
NM_015450.3(POT1):c.1527G>C (p.Leu509Phe)
NM_015450.3(POT1):c.1530A>G (p.Arg510=)
NM_015450.3(POT1):c.1531T>C (p.Ser511Pro) rs1584749215
NM_015450.3(POT1):c.1532C>T (p.Ser511Phe) rs1554416456
NM_015450.3(POT1):c.1533C>T (p.Ser511=) rs1251342049
NM_015450.3(POT1):c.1537C>A (p.Gln513Lys)
NM_015450.3(POT1):c.1548T>G (p.Asn516Lys)
NM_015450.3(POT1):c.1550C>A (p.Ser517Tyr)
NM_015450.3(POT1):c.1551C>T (p.Ser517=) rs1447234373
NM_015450.3(POT1):c.1554G>A (p.Leu518=)
NM_015450.3(POT1):c.1555G>T (p.Val519Phe) rs776873207
NM_015450.3(POT1):c.1564A>G (p.Thr522Ala) rs2116422065
NM_015450.3(POT1):c.1568C>A (p.Ser523Ter)
NM_015450.3(POT1):c.1576C>T (p.Pro526Ser) rs1794703492
NM_015450.3(POT1):c.1578T>G (p.Pro526=) rs1584749147
NM_015450.3(POT1):c.1579del (p.Ser527fs)
NM_015450.3(POT1):c.1589C>A (p.Ala530Glu)
NM_015450.3(POT1):c.1590A>C (p.Ala530=) rs1482990952
NM_015450.3(POT1):c.1590A>G (p.Ala530=)
NM_015450.3(POT1):c.1591G>A (p.Glu531Lys)
NM_015450.3(POT1):c.1594+3T>C
NM_015450.3(POT1):c.1595-4_1595-3del
NM_015450.3(POT1):c.1596A>G (p.Ala532=) rs1584747825
NM_015450.3(POT1):c.15A>G (p.Pro5=) rs764164330
NM_015450.3(POT1):c.1601G>A (p.Gly534Asp) rs1413291646
NM_015450.3(POT1):c.1603A>G (p.Ile535Val)
NM_015450.3(POT1):c.1606G>C (p.Val536Leu)
NM_015450.3(POT1):c.1607T>C (p.Val536Ala) rs761551156
NM_015450.3(POT1):c.1608A>G (p.Val536=) rs1388335234
NM_015450.3(POT1):c.160A>G (p.Asn54Asp) rs1398488689
NM_015450.3(POT1):c.1611C>G (p.Pro537=)
NM_015450.3(POT1):c.1614C>T (p.Leu538=) rs969018798
NM_015450.3(POT1):c.1615C>T (p.Gln539Ter) rs2116415082
NM_015450.3(POT1):c.1620T>C (p.Tyr540=)
NM_015450.3(POT1):c.1621G>A (p.Val541Met)
NM_015450.3(POT1):c.162T>C (p.Asn54=)
NM_015450.3(POT1):c.1634C>T (p.Thr545Ile) rs2116414961
NM_015450.3(POT1):c.1635C>T (p.Thr545=) rs1211488720
NM_015450.3(POT1):c.1638T>C (p.Phe546=) rs2116414940
NM_015450.3(POT1):c.163G>A (p.Val55Ile) rs2116567668
NM_015450.3(POT1):c.1641A>G (p.Thr547=) rs2116414921
NM_015450.3(POT1):c.1647T>A (p.Asp549Glu)
NM_015450.3(POT1):c.1647T>C (p.Asp549=)
NM_015450.3(POT1):c.1648_1683dup (p.Asp550_Asp561dup) rs1584747723
NM_015450.3(POT1):c.1653A>G (p.Gly551=) rs745543835
NM_015450.3(POT1):c.1656A>C (p.Thr552=) rs2116414814
NM_015450.3(POT1):c.1658G>A (p.Gly553Glu) rs1584747757
NM_015450.3(POT1):c.1662A>C (p.Val554=) rs1554415851
NM_015450.3(POT1):c.1662A>G (p.Val554=) rs1554415851
NM_015450.3(POT1):c.1663C>T (p.Leu555=)
NM_015450.3(POT1):c.1664T>C (p.Leu555Pro) rs1584747751
NM_015450.3(POT1):c.1672dup (p.Tyr558fs) rs2116414744
NM_015450.3(POT1):c.1673A>G (p.Tyr558Cys) rs2116414736
NM_015450.3(POT1):c.1677C>G (p.Leu559=)
NM_015450.3(POT1):c.1677C>T (p.Leu559=) rs988850329
NM_015450.3(POT1):c.1678A>C (p.Met560Leu) rs1351302431
NM_015450.3(POT1):c.1678A>T (p.Met560Leu) rs1351302431
NM_015450.3(POT1):c.1680G>A (p.Met560Ile)
NM_015450.3(POT1):c.1682A>G (p.Asp561Gly)
NM_015450.3(POT1):c.1682del (p.Asp561fs)
NM_015450.3(POT1):c.1686+4A>G rs907669138
NM_015450.3(POT1):c.1686+4_1686+7del rs1584747718
NM_015450.3(POT1):c.1686T>A (p.Ser562=)
NM_015450.3(POT1):c.1687-2del
NM_015450.3(POT1):c.1687-4T>C rs1794605002
NM_015450.3(POT1):c.1698C>G (p.Phe566Leu)
NM_015450.3(POT1):c.169C>T (p.Leu57=) rs1795854453
NM_015450.3(POT1):c.1704T>C (p.Ile568=) rs749834304
NM_015450.3(POT1):c.1705C>G (p.Pro569Ala) rs1388805721
NM_015450.3(POT1):c.1708G>A (p.Ala570Thr)
NM_015450.3(POT1):c.1709C>T (p.Ala570Val)
NM_015450.3(POT1):c.1710A>G (p.Ala570=)
NM_015450.3(POT1):c.1711T>G (p.Ser571Ala) rs1794604371
NM_015450.3(POT1):c.1713A>G (p.Ser571=)
NM_015450.3(POT1):c.1716A>T (p.Glu572Asp)
NM_015450.3(POT1):c.1717G>T (p.Val573Phe)
NM_015450.3(POT1):c.1729G>A (p.Asp577Asn)
NM_015450.3(POT1):c.1729G>T (p.Asp577Tyr) rs764901825
NM_015450.3(POT1):c.172A>G (p.Thr58Ala)
NM_015450.3(POT1):c.1734C>G (p.Asp578Glu) rs1584746419
NM_015450.3(POT1):c.1734C>T (p.Asp578=) rs1584746419
NM_015450.3(POT1):c.1735C>A (p.Leu579Ile)
NM_015450.3(POT1):c.1739A>G (p.Gln580Arg)
NM_015450.3(POT1):c.1746T>C (p.Ser582=) rs1222395233
NM_015450.3(POT1):c.1746T>G (p.Ser582Arg) rs1222395233
NM_015450.3(POT1):c.1748T>C (p.Val583Ala)
NM_015450.3(POT1):c.1751A>C (p.Asp584Ala)
NM_015450.3(POT1):c.1753A>G (p.Met585Val) rs1794602691
NM_015450.3(POT1):c.1755G>A (p.Met585Ile)
NM_015450.3(POT1):c.1756A>G (p.Ile586Val) rs1554415137
NM_015450.3(POT1):c.1758C>A (p.Ile586=)
NM_015450.3(POT1):c.1758C>T (p.Ile586=)
NM_015450.3(POT1):c.1765A>G (p.Met589Val) rs1794602270
NM_015450.3(POT1):c.1765_1766del (p.Met589fs) rs771968149
NM_015450.3(POT1):c.1766T>C (p.Met589Thr) rs1375637075
NM_015450.3(POT1):c.176G>A (p.Cys59Tyr) rs763187597
NM_015450.3(POT1):c.1771T>C (p.Cys591Arg)
NM_015450.3(POT1):c.1775C>G (p.Pro592Arg)
NM_015450.3(POT1):c.1775C>T (p.Pro592Leu) rs1436064065
NM_015450.3(POT1):c.1777C>T (p.Pro593Ser)
NM_015450.3(POT1):c.177C>A (p.Cys59Ter)
NM_015450.3(POT1):c.177C>T (p.Cys59=)
NM_015450.3(POT1):c.1781_1782del (p.Gly594fs) rs1562972380
NM_015450.3(POT1):c.1782A>G (p.Gly594=) rs751661236
NM_015450.3(POT1):c.1783A>G (p.Ile595Val)
NM_015450.3(POT1):c.1785A>G (p.Ile595Met) rs1794601418
NM_015450.3(POT1):c.1789A>T (p.Ile597Phe)
NM_015450.3(POT1):c.1792+1G>A rs1562972354
NM_015450.3(POT1):c.1793-20TTTTGT[4] rs746035349
NM_015450.3(POT1):c.1793-4G>A
NM_015450.3(POT1):c.1793-4G>C
NM_015450.3(POT1):c.1795G>T (p.Ala599Ser)
NM_015450.3(POT1):c.1796C>A (p.Ala599Glu)
NM_015450.3(POT1):c.1797A>C (p.Ala599=) rs752430203
NM_015450.3(POT1):c.1799A>G (p.Tyr600Cys)
NM_015450.3(POT1):c.179T>G (p.Leu60Arg) rs1584777805
NM_015450.3(POT1):c.17C>A (p.Ala6Glu)
NM_015450.3(POT1):c.1800T>C (p.Tyr600=)
NM_015450.3(POT1):c.1801C>A (p.Pro601Thr) rs1584745610
NM_015450.3(POT1):c.1801C>T (p.Pro601Ser) rs1584745610
NM_015450.3(POT1):c.1802C>T (p.Pro601Leu) rs779050803
NM_015450.3(POT1):c.1805G>T (p.Trp602Leu) rs996577534
NM_015450.3(POT1):c.1809G>A (p.Leu603=) rs1584745590
NM_015450.3(POT1):c.181_182delinsGAAACTATGAAGTTTCTTTAGTTTAAA (p.Leu61delinsGluThrMetLysPheLeuTer) rs1584777802
NM_015450.3(POT1):c.1823A>G (p.Lys608Arg)
NM_015450.3(POT1):c.1827A>G (p.Ser609=)
NM_015450.3(POT1):c.1829A>G (p.Tyr610Cys) rs1363813360
NM_015450.3(POT1):c.1830C>T (p.Tyr610=) rs2116403498
NM_015450.3(POT1):c.1831A>G (p.Asn611Asp) rs1794570957
NM_015450.3(POT1):c.1834G>A (p.Val612Ile) rs1554414690
NM_015450.3(POT1):c.1834G>C (p.Val612Leu) rs1554414690
NM_015450.3(POT1):c.183C>G (p.Leu61=) rs1455799309
NM_015450.3(POT1):c.1842T>C (p.Asn614=)
NM_015450.3(POT1):c.1850A>C (p.Asp617Ala) rs907969253
NM_015450.3(POT1):c.1851T>A (p.Asp617Glu) rs142059197
NM_015450.3(POT1):c.1851_1852del (p.Asp617fs) rs758673417
NM_015450.3(POT1):c.1858_1860del (p.Ile620del) rs1193436506
NM_015450.3(POT1):c.185T>G (p.Phe62Cys)
NM_015450.3(POT1):c.1860T>G (p.Ile620Met) rs1584745529
NM_015450.3(POT1):c.1863C>T (p.Cys621=) rs2116403353
NM_015450.3(POT1):c.1869G>A (p.Gln623=) rs587777478
NM_015450.3(POT1):c.1869_1877delinsAATTTTGG (p.Phe625fs) rs1584745506
NM_015450.3(POT1):c.1872T>A (p.Ile624=)
NM_015450.3(POT1):c.1872T>G (p.Ile624Met) rs1794569508
NM_015450.3(POT1):c.1875T>G (p.Phe625Leu)
NM_015450.3(POT1):c.1881C>A (p.Thr627=) rs1584745500
NM_015450.3(POT1):c.1884del (p.Val629fs)
NM_015450.3(POT1):c.188G>C (p.Ser63Thr) rs1584777788
NM_015450.3(POT1):c.1890A>G (p.Ala630=)
NM_015450.3(POT1):c.1891G>A (p.Glu631Lys) rs1584745486
NM_015450.3(POT1):c.1895A>G (p.Asp632Gly)
NM_015450.3(POT1):c.1896T>C (p.Asp632=)
NM_015450.3(POT1):c.1897G>T (p.Val633Leu)
NM_015450.3(POT1):c.1898del (p.Val633fs)
NM_015450.3(POT1):c.189T>C (p.Ser63=)
NM_015450.3(POT1):c.191G>A (p.Gly64Glu)
NM_015450.3(POT1):c.195C>A (p.Asn65Lys) rs1584777781
NM_015450.3(POT1):c.1A>G (p.Met1Val) rs1584510207
NM_015450.3(POT1):c.202G>A (p.Ala68Thr)
NM_015450.3(POT1):c.205C>T (p.Leu69Phe) rs905571705
NM_015450.3(POT1):c.208C>T (p.Pro70Ser)
NM_015450.3(POT1):c.20C>A (p.Thr7Lys)
NM_015450.3(POT1):c.210A>G (p.Pro70=)
NM_015450.3(POT1):c.213A>C (p.Ile71=)
NM_015450.3(POT1):c.214A>G (p.Ile72Val)
NM_015450.3(POT1):c.223A>C (p.Asn75His)
NM_015450.3(POT1):c.226G>A (p.Gly76Arg) rs1584777738
NM_015450.3(POT1):c.230A>G (p.Asp77Gly) rs1795852217
NM_015450.3(POT1):c.232A>G (p.Ile78Val)
NM_015450.3(POT1):c.234T>A (p.Ile78=) rs1554429191
NM_015450.3(POT1):c.235G>A (p.Val79Ile)
NM_015450.3(POT1):c.24T>G (p.Asn8Lys)
NM_015450.3(POT1):c.250C>T (p.Leu84=)
NM_015450.3(POT1):c.252G>A (p.Leu84=) rs1584777703
NM_015450.3(POT1):c.253A>G (p.Lys85Glu)
NM_015450.3(POT1):c.254dup (p.Ile86fs)
NM_015450.3(POT1):c.255+1G>A rs1584777699
NM_015450.3(POT1):c.255+1G>T rs1584777699
NM_015450.3(POT1):c.255+5A>G rs1584777694
NM_015450.3(POT1):c.255G>A (p.Lys85=) rs747851551
NM_015450.3(POT1):c.256-3T>C rs760801846
NM_015450.3(POT1):c.256-5C>A
NM_015450.3(POT1):c.260A>G (p.Gln87Arg)
NM_015450.3(POT1):c.261A>G (p.Gln87=)
NM_015450.3(POT1):c.266A>G (p.Tyr89Cys) rs587777472
NM_015450.3(POT1):c.270A>G (p.Lys90=) rs1795653104
NM_015450.3(POT1):c.279_280del (p.Gln94fs) rs2116542675
NM_015450.3(POT1):c.27T>C (p.Tyr9=)
NM_015450.3(POT1):c.282G>C (p.Gln94His) rs948259490
NM_015450.3(POT1):c.286A>T (p.Ile96Phe)
NM_015450.3(POT1):c.28A>C (p.Ile10Leu) rs1584792042
NM_015450.3(POT1):c.295T>C (p.Ser99Pro)
NM_015450.3(POT1):c.297T>C (p.Ser99=)
NM_015450.3(POT1):c.2dup (p.Met1fs)
NM_015450.3(POT1):c.308C>G (p.Ser103Cys)
NM_015450.3(POT1):c.314C>T (p.Thr105Met) rs1554426994
NM_015450.3(POT1):c.318del (p.Phe106fs)
NM_015450.3(POT1):c.320A>C (p.Glu107Ala)
NM_015450.3(POT1):c.323G>A (p.Gly108Glu) rs1290433563
NM_015450.3(POT1):c.334G>A (p.Ala112Thr)
NM_015450.3(POT1):c.336C>A (p.Ala112=) rs1584773064
NM_015450.3(POT1):c.339T>C (p.Pro113=)
NM_015450.3(POT1):c.33T>C (p.Tyr11=)
NM_015450.3(POT1):c.33_34dup (p.Thr12fs)
NM_015450.3(POT1):c.342C>T (p.Ile114=) rs989904335
NM_015450.3(POT1):c.346C>T (p.Pro116Ser) rs1795650286
NM_015450.3(POT1):c.347C>T (p.Pro116Leu) rs1554426966
NM_015450.3(POT1):c.349C>T (p.Arg117Cys) rs780936436
NM_015450.3(POT1):c.34A>G (p.Thr12Ala)
NM_015450.3(POT1):c.350G>A (p.Arg117His) rs1385542313
NM_015450.3(POT1):c.352A>G (p.Thr118Ala)
NM_015450.3(POT1):c.355T>C (p.Ser119Pro)
NM_015450.3(POT1):c.359G>C (p.Ser120Thr)
NM_015450.3(POT1):c.360C>A (p.Ser120Arg)
NM_015450.3(POT1):c.363G>A (p.Lys121=)
NM_015450.3(POT1):c.375C>T (p.Phe125=) rs1584773021
NM_015450.3(POT1):c.376A>G (p.Thr126Ala)
NM_015450.3(POT1):c.37C>T (p.Pro13Ser) rs1584792028
NM_015450.3(POT1):c.384G>A (p.Glu128=)
NM_015450.3(POT1):c.385G>A (p.Asp129Asn) rs1795649242
NM_015450.3(POT1):c.388C>T (p.His130Tyr) rs1554426951
NM_015450.3(POT1):c.390C>T (p.His130=)
NM_015450.3(POT1):c.403G>A (p.Ala135Thr)
NM_015450.3(POT1):c.410G>T (p.Arg137Leu)
NM_015450.3(POT1):c.415T>G (p.Trp139Gly)
NM_015450.3(POT1):c.42G>T (p.Leu14=) rs1584792022
NM_015450.3(POT1):c.432G>A (p.Met144Ile)
NM_015450.3(POT1):c.437C>T (p.Pro146Leu) rs1554426915
NM_015450.3(POT1):c.438G>T (p.Pro146=)
NM_015450.3(POT1):c.441T>A (p.Ser147=)
NM_015450.3(POT1):c.441T>C (p.Ser147=) rs760889677
NM_015450.3(POT1):c.446C>T (p.Thr149Ile)
NM_015450.3(POT1):c.461G>A (p.Cys154Tyr)
NM_015450.3(POT1):c.463G>A (p.Asp155Asn) rs1562993312
NM_015450.3(POT1):c.463G>C (p.Asp155His)
NM_015450.3(POT1):c.466G>A (p.Val156Ile) rs1795646926
NM_015450.3(POT1):c.46C>A (p.Gln16Lys)
NM_015450.3(POT1):c.479A>G (p.Gln160Arg) rs1584772936
NM_015450.3(POT1):c.480G>A (p.Gln160=) rs2116541535
NM_015450.3(POT1):c.483T>G (p.Tyr161Ter)
NM_015450.3(POT1):c.486T>C (p.Phe162=)
NM_015450.3(POT1):c.490C>G (p.Leu164Val)
NM_015450.3(POT1):c.492G>C (p.Leu164=)
NM_015450.3(POT1):c.495T>G (p.Thr165=)
NM_015450.3(POT1):c.499C>T (p.Gln167Ter)
NM_015450.3(POT1):c.4T>A (p.Ser2Thr)
NM_015450.3(POT1):c.505T>C (p.Leu169=)
NM_015450.3(POT1):c.508G>A (p.Gly170Ser) rs1584772921
NM_015450.3(POT1):c.515C>G (p.Ala172Gly)
NM_015450.3(POT1):c.515C>T (p.Ala172Val)
NM_015450.3(POT1):c.516A>C (p.Ala172=)
NM_015450.3(POT1):c.516A>G (p.Ala172=) rs767849387
NM_015450.3(POT1):c.51T>A (p.Leu17=)
NM_015450.3(POT1):c.51T>G (p.Leu17=)
NM_015450.3(POT1):c.527G>A (p.Gly176Glu)
NM_015450.3(POT1):c.527G>C (p.Gly176Ala)
NM_015450.3(POT1):c.529G>A (p.Ala177Thr) rs1795645494
NM_015450.3(POT1):c.531A>G (p.Ala177=)
NM_015450.3(POT1):c.533C>T (p.Ser178Leu) rs1584772907
NM_015450.3(POT1):c.534A>G (p.Ser178=) rs146150652
NM_015450.3(POT1):c.534A>T (p.Ser178=)
NM_015450.3(POT1):c.53A>G (p.Lys18Arg) rs1584792012
NM_015450.3(POT1):c.541C>T (p.Leu181=)
NM_015450.3(POT1):c.546+2T>C
NM_015450.3(POT1):c.546+3A>G
NM_015450.3(POT1):c.546+4C>A rs1795644961
NM_015450.3(POT1):c.547-3C>T rs770890978
NM_015450.3(POT1):c.547G>C (p.Val183Leu)
NM_015450.3(POT1):c.54G>A (p.Lys18=)
NM_015450.3(POT1):c.550T>C (p.Trp184Arg) rs2116526752
NM_015450.3(POT1):c.552G>A (p.Trp184Ter) rs1202302799
NM_015450.3(POT1):c.558C>A (p.Gly186=)
NM_015450.3(POT1):c.558C>T (p.Gly186=) rs751607119
NM_015450.3(POT1):c.559A>G (p.Thr187Ala) rs1562990976
NM_015450.3(POT1):c.56G>A (p.Gly19Asp)
NM_015450.3(POT1):c.56G>T (p.Gly19Val)
NM_015450.3(POT1):c.570A>G (p.Pro190=) rs1584769931
NM_015450.3(POT1):c.571T>C (p.Phe191Leu)
NM_015450.3(POT1):c.575C>T (p.Pro192Leu)
NM_015450.3(POT1):c.577T>C (p.Ser193Pro) rs752854457
NM_015450.3(POT1):c.579T>C (p.Ser193=)
NM_015450.3(POT1):c.579T>G (p.Ser193=) rs1308025357
NM_015450.3(POT1):c.580T>G (p.Trp194Gly)
NM_015450.3(POT1):c.586G>A (p.Val196Ile)
NM_015450.3(POT1):c.58G>T (p.Gly20Cys) rs1796391890
NM_015450.3(POT1):c.591A>G (p.Leu197=)
NM_015450.3(POT1):c.592A>C (p.Ile198Leu) rs1554425771
NM_015450.3(POT1):c.598G>A (p.Asp200Asn) rs764943552
NM_015450.3(POT1):c.601C>G (p.Leu201Val) rs2116526207
NM_015450.3(POT1):c.609T>C (p.Leu203=)
NM_015450.3(POT1):c.617A>G (p.Asp206Gly) rs1562990934
NM_015450.3(POT1):c.618T>C (p.Asp206=) rs1170213047
NM_015450.3(POT1):c.619T>A (p.Leu207Ile)
NM_015450.3(POT1):c.626A>T (p.His209Leu)
NM_015450.3(POT1):c.631dup (p.His211fs) rs2116525878
NM_015450.3(POT1):c.634C>T (p.Arg212Trp) rs1444551164
NM_015450.3(POT1):c.636G>C (p.Arg212=) rs1554425745
NM_015450.3(POT1):c.642A>G (p.Gln214=) rs1479799328
NM_015450.3(POT1):c.644A>C (p.Asn215Thr) rs1795516349
NM_015450.3(POT1):c.649A>T (p.Thr217Ser)
NM_015450.3(POT1):c.650C>A (p.Thr217Lys)
NM_015450.3(POT1):c.652A>G (p.Ile218Val) rs1795515981
NM_015450.3(POT1):c.655G>T (p.Asp219Tyr)
NM_015450.3(POT1):c.664G>A (p.Val222Ile)
NM_015450.3(POT1):c.667T>C (p.Tyr223His)
NM_015450.3(POT1):c.668A>G (p.Tyr223Cys) rs1795515617
NM_015450.3(POT1):c.671A>G (p.Asp224Gly) rs1584769825
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>T (p.His226Tyr)
NM_015450.3(POT1):c.677A>G (p.His226Arg) rs2116525298
NM_015450.3(POT1):c.678T>C (p.His226=)
NM_015450.3(POT1):c.690A>G (p.Ala230=)
NM_015450.3(POT1):c.691del (p.Arg231fs)
NM_015450.3(POT1):c.692G>A (p.Arg231Lys)
NM_015450.3(POT1):c.693A>T (p.Arg231Ser) rs1795514618
NM_015450.3(POT1):c.702+1G>A rs2116525031
NM_015450.3(POT1):c.702+5T>C rs1370505940
NM_015450.3(POT1):c.703-3T>G rs1584765787
NM_015450.3(POT1):c.703-3del rs1584765789
NM_015450.3(POT1):c.703G>T (p.Val235Phe)
NM_015450.3(POT1):c.704T>C (p.Val235Ala)
NM_015450.3(POT1):c.708A>G (p.Gly236=)
NM_015450.3(POT1):c.711C>T (p.Ser237=) rs1455456209
NM_015450.3(POT1):c.721A>G (p.Ile241Val)
NM_015450.3(POT1):c.723C>G (p.Ile241Met)
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.740A>G (p.Lys247Arg) rs1795354672
NM_015450.3(POT1):c.741A>G (p.Lys247=) rs2116505118
NM_015450.3(POT1):c.753G>T (p.Met251Ile)
NM_015450.3(POT1):c.755A>G (p.Asn252Ser)
NM_015450.3(POT1):c.759A>G (p.Ser253=)
NM_015450.3(POT1):c.75C>A (p.Val25=)
NM_015450.3(POT1):c.762G>A (p.Glu254=)
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.780T>C (p.Ser260=)
NM_015450.3(POT1):c.790C>G (p.His264Asp)
NM_015450.3(POT1):c.793C>G (p.Leu265Val)
NM_015450.3(POT1):c.797A>G (p.His266Arg) rs1584765678
NM_015450.3(POT1):c.798T>C (p.His266=)
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.800G>A (p.Gly267Glu) rs2116504781
NM_015450.3(POT1):c.801A>G (p.Gly267=) rs1554423995
NM_015450.3(POT1):c.806C>G (p.Thr269Ser)
NM_015450.3(POT1):c.809G>A (p.Ser270Asn) rs587777477
NM_015450.3(POT1):c.814G>C (p.Gly272Arg)
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.823A>G (p.Ile275Val) rs1584765612
NM_015450.3(POT1):c.826A>G (p.Arg276Gly) rs2116504536
NM_015450.3(POT1):c.828G>T (p.Arg276Ser) rs76496261
NM_015450.3(POT1):c.831C>A (p.Val277=) rs2116504500
NM_015450.3(POT1):c.834G>C (p.Leu278Phe)
NM_015450.3(POT1):c.834G>T (p.Leu278Phe) rs754958636
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.847T>G (p.Ser283Ala) rs1584765580
NM_015450.3(POT1):c.848_849del (p.Asn282_Ser283insTer)
NM_015450.3(POT1):c.856G>A (p.Asp286Asn) rs1460322063
NM_015450.3(POT1):c.85G>C (p.Val29Leu)
NM_015450.3(POT1):c.865A>G (p.Lys289Glu)
NM_015450.3(POT1):c.869+4del rs1445280218
NM_015450.3(POT1):c.870-4A>G rs2116501208
NM_015450.3(POT1):c.870-4A>T
NM_015450.3(POT1):c.870-57_882dup
NM_015450.3(POT1):c.871G>A (p.Asp291Asn)
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.887del (p.Asn296fs)
NM_015450.3(POT1):c.894A>G (p.Thr298=)
NM_015450.3(POT1):c.895G>A (p.Ala299Thr) rs149273459
NM_015450.3(POT1):c.898A>G (p.Asn300Asp)
NM_015450.3(POT1):c.9+1G>A
NM_015450.3(POT1):c.9+3A>G rs372320290
NM_015450.3(POT1):c.9+4_9+6del rs1442340607
NM_015450.3(POT1):c.902A>G (p.Gln301Arg)
NM_015450.3(POT1):c.905A>G (p.His302Arg)
NM_015450.3(POT1):c.908C>T (p.Ser303Leu) rs1795316757
NM_015450.3(POT1):c.90G>A (p.Lys30=)
NM_015450.3(POT1):c.923A>T (p.Gln308Leu)
NM_015450.3(POT1):c.925T>C (p.Ser309Pro) rs1584764901
NM_015450.3(POT1):c.92T>G (p.Phe31Cys)
NM_015450.3(POT1):c.936C>G (p.Asp312Glu) rs35051558
NM_015450.3(POT1):c.937G>A (p.Asp313Asn) rs770779418
NM_015450.3(POT1):c.937G>T (p.Asp313Tyr) rs770779418
NM_015450.3(POT1):c.940A>G (p.Ser314Gly)
NM_015450.3(POT1):c.945T>C (p.Phe315=)
NM_015450.3(POT1):c.949+4A>G
NM_015450.3(POT1):c.949A>C (p.Ser317Arg) rs1554423487
NM_015450.3(POT1):c.949A>G (p.Ser317Gly) rs1554423487
NM_015450.3(POT1):c.950-1G>A
NM_015450.3(POT1):c.950G>A (p.Ser317Asn)
NM_015450.3(POT1):c.954_955dup (p.Gly319fs)
NM_015450.3(POT1):c.957A>T (p.Gly319=) rs1301910586
NM_015450.3(POT1):c.966A>G (p.Ser322=) rs1350554685
NM_015450.3(POT1):c.970T>G (p.Tyr324Asp)
NM_015450.3(POT1):c.973G>A (p.Glu325Lys) rs1554421987
NM_015450.3(POT1):c.975G>A (p.Glu325=)
NM_015450.3(POT1):c.976G>A (p.Val326Ile) rs1407472208
NM_015450.3(POT1):c.976G>C (p.Val326Leu)
NM_015450.3(POT1):c.982A>G (p.Arg328Gly) rs1795184644
NM_015450.3(POT1):c.984A>G (p.Arg328=)
NM_015450.3(POT1):c.984A>T (p.Arg328Ser) rs1584761529
NM_015450.3(POT1):c.986G>A (p.Cys329Tyr) rs1472832603
NM_015450.3(POT1):c.989A>G (p.Gln330Arg) rs2116483950
NM_015450.3(POT1):c.98A>C (p.Lys33Thr)
NM_015450.3(POT1):c.995T>C (p.Leu332Pro)
NM_015450.3(POT1):c.99G>T (p.Lys33Asn)

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