ClinVar Miner

List of variants in gene PROM1 studied for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 869
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HGVS dbSNP gnomAD frequency
NM_006017.3(PROM1):c.2281-64C>T rs7675574 0.97983
NM_006017.3(PROM1):c.1578+69A>G rs6449212 0.96439
NM_006017.3(PROM1):c.784+64T>C rs2013854 0.74558
NM_006017.3(PROM1):c.303+6G>A rs2078622 0.39397
NM_006017.3(PROM1):c.2374-6T>C rs6449209 0.34571
NM_006017.3(PROM1):c.2582+43C>T rs11725522 0.22440
NM_006017.3(PROM1):c.2130+95del rs139574888 0.22404
NM_006017.3(PROM1):c.1455-46A>G rs17478107 0.22264
NM_006017.3(PROM1):c.*667A>C rs2240688 0.21643
NM_006017.3(PROM1):c.2281-6C>G rs3815344 0.20394
NM_006017.3(PROM1):c.1455-75G>A rs56413603 0.10611
NM_006017.3(PROM1):c.694+65T>C rs16892822 0.10138
NM_006017.3(PROM1):c.1003-35A>C rs2286458 0.09908
NM_006017.3(PROM1):c.1003-97T>C rs2286457 0.09763
NM_006017.3(PROM1):c.786G>A (p.Ala262=) rs2286455 0.09727
NM_006017.3(PROM1):c.510-48A>G rs7663999 0.09331
NM_006017.3(PROM1):c.129C>T (p.Thr43=) rs10033086 0.09038
NM_006017.3(PROM1):c.15C>T (p.Leu5=) rs10033189 0.06194
NM_006017.3(PROM1):c.1983+43T>C rs4698131 0.04287
NM_006017.3(PROM1):c.1983+14G>A rs4698436 0.04259
NM_006017.3(PROM1):c.1983+62T>G rs17387037 0.04127
NM_006017.3(PROM1):c.2373+84T>G rs2302167 0.03674
NM_006017.3(PROM1):c.228G>A (p.Leu76=) rs76963591 0.03578
NM_006017.3(PROM1):c.1768-5C>T rs55708318 0.03551
NM_006017.3(PROM1):c.2490-84del rs138197994 0.02591
NM_006017.3(PROM1):c.1767+92G>A rs73122449 0.02310
NM_006017.3(PROM1):c.2280+35G>A rs16892734 0.01986
NM_006017.3(PROM1):c.2280+49T>C rs114863236 0.01916
NM_006017.3(PROM1):c.631-14T>C rs16892824 0.01810
NM_006017.3(PROM1):c.2281-23T>G rs115060954 0.01780
NM_006017.3(PROM1):c.2131-75T>G rs115405803 0.01357
NM_006017.3(PROM1):c.2211+30C>T rs11726546 0.00990
NM_006017.3(PROM1):c.55T>G (p.Ser19Ala) rs189108830 0.00928
NM_006017.3(PROM1):c.1751A>G (p.His584Arg) rs140027620 0.00608
NM_006017.3(PROM1):c.1911+14G>A rs79077926 0.00565
NM_006017.3(PROM1):c.1683-3C>T rs143470288 0.00518
NM_006017.3(PROM1):c.1497C>T (p.Ile499=) rs113895168 0.00322
NM_006017.3(PROM1):c.2374-16G>A rs115191060 0.00310
NM_006017.3(PROM1):c.1977C>T (p.Asn659=) rs149028760 0.00222
NM_006017.3(PROM1):c.1579-6T>C rs181261277 0.00190
NM_006017.3(PROM1):c.2358C>T (p.Tyr786=) rs201963301 0.00175
NM_006017.3(PROM1):c.1345G>A (p.Val449Met) rs200620291 0.00152
NM_006017.3(PROM1):c.2211+7C>T rs372262346 0.00150
NM_006017.3(PROM1):c.868A>C (p.Ser290Arg) rs182096110 0.00128
NM_006017.3(PROM1):c.2454C>T (p.Tyr818=) rs147880953 0.00100
NM_006017.3(PROM1):c.103G>C (p.Glu35Gln) rs200290535 0.00095
NM_006017.3(PROM1):c.134A>G (p.Asp45Gly) rs201559220 0.00095
NM_006017.3(PROM1):c.1128G>A (p.Thr376=) rs200422423 0.00091
NM_006017.3(PROM1):c.714A>G (p.Gly238=) rs201662148 0.00088
NM_006017.3(PROM1):c.684A>G (p.Thr228=) rs370582316 0.00083
NM_006017.3(PROM1):c.1912A>G (p.Thr638Ala) rs201745632 0.00077
NM_006017.3(PROM1):c.1491G>T (p.Leu497Phe) rs200520976 0.00070
NM_006017.3(PROM1):c.1469G>A (p.Ser490Asn) rs201027172 0.00069
NM_006017.3(PROM1):c.1610A>G (p.Asp537Gly) rs200545555 0.00065
NM_006017.3(PROM1):c.1928C>G (p.Ala643Gly) rs62617075 0.00065
NM_006017.3(PROM1):c.2281-22C>G rs201106960 0.00058
NM_006017.3(PROM1):c.2284A>G (p.Ser762Gly) rs202029748 0.00058
NM_006017.3(PROM1):c.914C>T (p.Pro305Leu) rs142245630 0.00048
NM_006017.3(PROM1):c.2212-16T>G rs769587553 0.00045
NM_006017.3(PROM1):c.2253A>G (p.Glu751=) rs368580524 0.00044
NM_006017.3(PROM1):c.1983+17C>T rs371884800 0.00037
NM_006017.3(PROM1):c.2112C>T (p.Arg704=) rs375358457 0.00036
NM_006017.3(PROM1):c.630+19A>G rs371353564 0.00034
NM_006017.3(PROM1):c.1911+8G>A rs370302107 0.00033
NM_006017.3(PROM1):c.333A>G (p.Leu111=) rs182877482 0.00032
NM_006017.3(PROM1):c.1151G>C (p.Arg384Thr) rs200907523 0.00029
NM_006017.3(PROM1):c.1330C>T (p.Leu444=) rs368868012 0.00028
NM_006017.3(PROM1):c.1196G>A (p.Arg399His) rs201690959 0.00027
NM_006017.3(PROM1):c.604C>G (p.Arg202Gly) rs140872693 0.00026
NM_006017.3(PROM1):c.963G>T (p.Leu321Phe) rs202041422 0.00026
NM_006017.3(PROM1):c.1925C>T (p.Pro642Leu) rs555436815 0.00025
NM_006017.3(PROM1):c.1002+20C>T rs374224088 0.00024
NM_006017.3(PROM1):c.1780A>C (p.Ile594Leu) rs200507858 0.00022
NM_006017.3(PROM1):c.2271C>T (p.Ile757=) rs375986111 0.00022
NM_006017.3(PROM1):c.181A>G (p.Ile61Val) rs201701647 0.00021
NM_006017.3(PROM1):c.456C>G (p.Pro152=) rs377209685 0.00020
NM_006017.3(PROM1):c.678G>A (p.Ala226=) rs187116049 0.00020
NM_006017.3(PROM1):c.1945T>C (p.Ser649Pro) rs199641781 0.00019
NM_006017.3(PROM1):c.524A>G (p.Tyr175Cys) rs144688616 0.00019
NM_006017.3(PROM1):c.843C>T (p.His281=) rs374394451 0.00019
NM_006017.3(PROM1):c.277-14G>A rs368853623 0.00017
NM_006017.3(PROM1):c.1279T>C (p.Leu427=) rs200710798 0.00016
NM_006017.3(PROM1):c.1378G>A (p.Val460Met) rs200142945 0.00016
NM_006017.3(PROM1):c.303+10T>G rs181648802 0.00016
NM_006017.3(PROM1):c.2131-17G>C rs534835574 0.00015
NM_006017.3(PROM1):c.2590C>T (p.Gln864Ter) rs566891826 0.00015
NM_006017.3(PROM1):c.1077+6C>G rs146390632 0.00014
NM_006017.3(PROM1):c.2514-12T>C rs372124362 0.00014
NM_006017.3(PROM1):c.789C>G (p.Ile263Met) rs150322691 0.00014
NM_006017.3(PROM1):c.801A>G (p.Lys267=) rs186293194 0.00014
NM_006017.3(PROM1):c.2472G>A (p.Ser824=) rs372746499 0.00012
NM_006017.3(PROM1):c.2236A>C (p.Ile746Leu) rs370133548 0.00011
NM_006017.3(PROM1):c.2490-2A>G rs375813885 0.00011
NM_006017.3(PROM1):c.556C>T (p.Arg186Trp) rs369512467 0.00011
NM_006017.3(PROM1):c.731G>A (p.Arg244Gln) rs369815021 0.00011
NM_006017.3(PROM1):c.1194G>A (p.Gln398=) rs370217948 0.00010
NM_006017.3(PROM1):c.1577G>A (p.Arg526Gln) rs201692179 0.00010
NM_006017.3(PROM1):c.2485G>A (p.Asp829Asn) rs146434364 0.00010
NM_006017.3(PROM1):c.1454+4A>G rs749377148 0.00009
NM_006017.3(PROM1):c.1557C>A (p.Tyr519Ter) rs137853907 0.00009
NM_006017.3(PROM1):c.1767+18T>C rs375443778 0.00009
NM_006017.3(PROM1):c.2319C>T (p.Thr773=) rs185335345 0.00009
NM_006017.3(PROM1):c.2471C>T (p.Ser824Leu) rs575302651 0.00009
NM_006017.3(PROM1):c.376G>A (p.Val126Met) rs199556426 0.00009
NM_006017.3(PROM1):c.572G>A (p.Arg191Gln) rs753389458 0.00009
NM_006017.3(PROM1):c.1276dup (p.Thr426fs) rs747800874 0.00008
NM_006017.3(PROM1):c.1533G>A (p.Val511=) rs750722705 0.00008
NM_006017.3(PROM1):c.307G>T (p.Val103Phe) rs376610073 0.00008
NM_006017.3(PROM1):c.321A>C (p.Ala107=) rs371975235 0.00008
NM_006017.3(PROM1):c.335G>A (p.Cys112Tyr) rs111804339 0.00008
NM_006017.3(PROM1):c.383A>G (p.Tyr128Cys) rs113266999 0.00008
NM_006017.3(PROM1):c.85C>T (p.Pro29Ser) rs199533391 0.00008
NM_006017.3(PROM1):c.1179C>T (p.Ile393=) rs373804552 0.00007
NM_006017.3(PROM1):c.1576C>T (p.Arg526Trp) rs201870277 0.00007
NM_006017.3(PROM1):c.717C>T (p.Gly239=) rs763697898 0.00007
NM_006017.3(PROM1):c.1301+3G>A rs373623517 0.00006
NM_006017.3(PROM1):c.1339C>G (p.Leu447Val) rs1277076300 0.00006
NM_006017.3(PROM1):c.149G>A (p.Gly50Glu) rs772579915 0.00006
NM_006017.3(PROM1):c.1559C>T (p.Thr520Met) rs371416551 0.00006
NM_006017.3(PROM1):c.1683-14G>A rs371857360 0.00006
NM_006017.3(PROM1):c.1927G>A (p.Ala643Thr) rs748475864 0.00006
NM_006017.3(PROM1):c.2049A>T (p.Gln683His) rs759432430 0.00006
NM_006017.3(PROM1):c.2085A>G (p.Leu695=) rs773851520 0.00006
NM_006017.3(PROM1):c.2095G>A (p.Val699Ile) rs1271770492 0.00006
NM_006017.3(PROM1):c.2555A>G (p.Tyr852Cys) rs772737866 0.00006
NM_006017.3(PROM1):c.277-15C>T rs372599685 0.00006
NM_006017.3(PROM1):c.509+13T>C rs370170367 0.00006
NM_006017.3(PROM1):c.807G>A (p.Ala269=) rs140327426 0.00006
NM_006017.3(PROM1):c.848A>G (p.Gln283Arg) rs371887194 0.00006
NM_006017.3(PROM1):c.999G>A (p.Arg333=) rs748015445 0.00006
NM_006017.3(PROM1):c.1152G>C (p.Arg384Ser) rs201748228 0.00005
NM_006017.3(PROM1):c.1344C>T (p.Ile448=) rs147174580 0.00005
NM_006017.3(PROM1):c.1911+9C>T rs376992367 0.00005
NM_006017.3(PROM1):c.2340T>G (p.Asp780Glu) rs368089869 0.00005
NM_006017.3(PROM1):c.2582+9A>C rs200033458 0.00005
NM_006017.3(PROM1):c.540T>C (p.Asn180=) rs1259492360 0.00005
NM_006017.3(PROM1):c.718G>A (p.Gly240Arg) rs752543587 0.00005
NM_006017.3(PROM1):c.1011C>T (p.Pro337=) rs944075326 0.00004
NM_006017.3(PROM1):c.1077+17A>T rs748491065 0.00004
NM_006017.3(PROM1):c.1090C>T (p.Leu364Phe) rs201706973 0.00004
NM_006017.3(PROM1):c.1195C>T (p.Arg399Cys) rs770268627 0.00004
NM_006017.3(PROM1):c.1199T>C (p.Leu400Pro) rs140682455 0.00004
NM_006017.3(PROM1):c.1301+2T>C rs775957498 0.00004
NM_006017.3(PROM1):c.1407G>A (p.Pro469=) rs763710252 0.00004
NM_006017.3(PROM1):c.1525G>A (p.Ala509Thr) rs367572856 0.00004
NM_006017.3(PROM1):c.155T>C (p.Ile52Thr) rs778896066 0.00004
NM_006017.3(PROM1):c.1579-12A>C rs370183490 0.00004
NM_006017.3(PROM1):c.1632G>T (p.Gly544=) rs753308387 0.00004
NM_006017.3(PROM1):c.2076+16G>T rs374219790 0.00004
NM_006017.3(PROM1):c.2364C>T (p.Ile788=) rs551849678 0.00004
NM_006017.3(PROM1):c.2408T>C (p.Val803Ala) rs757702736 0.00004
NM_006017.3(PROM1):c.2596T>G (p.Ter866Gly) rs778935197 0.00004
NM_006017.3(PROM1):c.784+14A>G rs781143726 0.00004
NM_006017.3(PROM1):c.785-18C>T rs375709922 0.00004
NM_006017.3(PROM1):c.1003-6T>G rs398124215 0.00003
NM_006017.3(PROM1):c.116C>A (p.Thr39Lys) rs371982287 0.00003
NM_006017.3(PROM1):c.1405C>A (p.Pro469Thr) rs751216717 0.00003
NM_006017.3(PROM1):c.1450A>G (p.Met484Val) rs574974703 0.00003
NM_006017.3(PROM1):c.177G>C (p.Val59=) rs371957029 0.00003
NM_006017.3(PROM1):c.179A>G (p.His60Arg) rs186676979 0.00003
NM_006017.3(PROM1):c.1926C>T (p.Pro642=) rs765486588 0.00003
NM_006017.3(PROM1):c.1946C>T (p.Ser649Leu) rs761911901 0.00003
NM_006017.3(PROM1):c.1960C>G (p.Leu654Val) rs775428045 0.00003
NM_006017.3(PROM1):c.2076+12C>T rs200356026 0.00003
NM_006017.3(PROM1):c.2198C>T (p.Ser733Phe) rs767318720 0.00003
NM_006017.3(PROM1):c.232A>C (p.Lys78Gln) rs757074285 0.00003
NM_006017.3(PROM1):c.2446G>C (p.Ala816Pro) rs368515078 0.00003
NM_006017.3(PROM1):c.2478C>T (p.Asp826=) rs774262417 0.00003
NM_006017.3(PROM1):c.277-5T>A rs1353249383 0.00003
NM_006017.3(PROM1):c.303+15T>G rs754507135 0.00003
NM_006017.3(PROM1):c.533T>C (p.Val178Ala) rs780577834 0.00003
NM_006017.3(PROM1):c.652C>T (p.Gln218Ter) rs374017889 0.00003
NM_006017.3(PROM1):c.785-16G>T rs1393364833 0.00003
NM_006017.3(PROM1):c.808T>C (p.Leu270=) rs368615249 0.00003
NM_006017.3(PROM1):c.1041C>T (p.Asn347=) rs749224229 0.00002
NM_006017.3(PROM1):c.10G>A (p.Val4Ile) rs369512916 0.00002
NM_006017.3(PROM1):c.1238T>A (p.Val413Asp) rs563415711 0.00002
NM_006017.3(PROM1):c.124G>A (p.Glu42Lys) rs762631402 0.00002
NM_006017.3(PROM1):c.1276A>G (p.Thr426Ala) rs760172617 0.00002
NM_006017.3(PROM1):c.1300T>C (p.Trp434Arg) rs761560893 0.00002
NM_006017.3(PROM1):c.1377C>T (p.Gly459=) rs779072238 0.00002
NM_006017.3(PROM1):c.1384G>A (p.Gly462Ser) rs779901241 0.00002
NM_006017.3(PROM1):c.1406C>T (p.Pro469Leu) rs1292254467 0.00002
NM_006017.3(PROM1):c.1468A>T (p.Ser490Cys) rs536622788 0.00002
NM_006017.3(PROM1):c.1660C>G (p.Leu554Val) rs1229297607 0.00002
NM_006017.3(PROM1):c.1712G>A (p.Gly571Asp) rs745648882 0.00002
NM_006017.3(PROM1):c.1834G>A (p.Ala612Thr) rs771046422 0.00002
NM_006017.3(PROM1):c.1954T>C (p.Tyr652His) rs768320190 0.00002
NM_006017.3(PROM1):c.1982T>C (p.Leu661Ser) rs372632641 0.00002
NM_006017.3(PROM1):c.199C>G (p.Gln67Glu) rs751460221 0.00002
NM_006017.3(PROM1):c.2111G>A (p.Arg704His) rs771239030 0.00002
NM_006017.3(PROM1):c.2131-18T>C rs550565365 0.00002
NM_006017.3(PROM1):c.2199T>C (p.Ser733=) rs898994438 0.00002
NM_006017.3(PROM1):c.2272G>A (p.Glu758Lys) rs371004406 0.00002
NM_006017.3(PROM1):c.2435C>T (p.Ala812Val) rs371444761 0.00002
NM_006017.3(PROM1):c.2450A>G (p.Lys817Arg) rs1231060253 0.00002
NM_006017.3(PROM1):c.2521A>G (p.Asn841Asp) rs752489889 0.00002
NM_006017.3(PROM1):c.2578A>G (p.Thr860Ala) rs747844753 0.00002
NM_006017.3(PROM1):c.262A>T (p.Ile88Phe) rs754495780 0.00002
NM_006017.3(PROM1):c.268T>A (p.Tyr90Asn) rs1346916111 0.00002
NM_006017.3(PROM1):c.276+11A>G rs1277587152 0.00002
NM_006017.3(PROM1):c.303+1G>A rs777673930 0.00002
NM_006017.3(PROM1):c.323G>A (p.Gly108Glu) rs771963436 0.00002
NM_006017.3(PROM1):c.557G>A (p.Arg186Gln) rs542759235 0.00002
NM_006017.3(PROM1):c.630+10A>G rs376682773 0.00002
NM_006017.3(PROM1):c.645A>G (p.Ile215Met) rs770248840 0.00002
NM_006017.3(PROM1):c.661A>C (p.Thr221Pro) rs532183630 0.00002
NM_006017.3(PROM1):c.792G>A (p.Lys264=) rs776605111 0.00002
NM_006017.3(PROM1):c.806C>T (p.Ala269Val) rs770901015 0.00002
NM_006017.3(PROM1):c.83C>A (p.Ala28Asp) rs200267954 0.00002
NM_006017.3(PROM1):c.876C>A (p.Thr292=) rs373899516 0.00002
NM_006017.3(PROM1):c.896G>A (p.Arg299Gln) rs748149698 0.00002
NM_006017.3(PROM1):c.1003-11T>C rs1469558153 0.00001
NM_006017.3(PROM1):c.1022A>G (p.Glu341Gly) rs977371695 0.00001
NM_006017.3(PROM1):c.1033G>A (p.Val345Ile) rs911295313 0.00001
NM_006017.3(PROM1):c.1042G>A (p.Val348Ile) rs542468979 0.00001
NM_006017.3(PROM1):c.1077+3A>T rs1239478035 0.00001
NM_006017.3(PROM1):c.1077G>T (p.Gln359His) rs1188471895 0.00001
NM_006017.3(PROM1):c.1078-16T>C rs751300536 0.00001
NM_006017.3(PROM1):c.1105G>A (p.Asp369Asn) rs776022469 0.00001
NM_006017.3(PROM1):c.1127C>T (p.Thr376Met) rs746672684 0.00001
NM_006017.3(PROM1):c.1135G>A (p.Val379Ile) rs1329126414 0.00001
NM_006017.3(PROM1):c.1142-1G>A rs752619497 0.00001
NM_006017.3(PROM1):c.1147A>G (p.Lys383Glu) rs765104872 0.00001
NM_006017.3(PROM1):c.1157T>A (p.Leu386Ter) rs886037880 0.00001
NM_006017.3(PROM1):c.1163C>A (p.Ser388Tyr) rs267600054 0.00001
NM_006017.3(PROM1):c.1166T>C (p.Ile389Thr) rs760353791 0.00001
NM_006017.3(PROM1):c.1182C>T (p.Asp394=) rs769140245 0.00001
NM_006017.3(PROM1):c.1184A>G (p.Asn395Ser) rs749726796 0.00001
NM_006017.3(PROM1):c.1209_1229del (p.Gln403_Ser410delinsHis) rs777497868 0.00001
NM_006017.3(PROM1):c.1221A>G (p.Ser407=) rs1382801591 0.00001
NM_006017.3(PROM1):c.1301G>A (p.Trp434Ter) rs1461400697 0.00001
NM_006017.3(PROM1):c.1302G>A (p.Trp434Ter) rs1340013236 0.00001
NM_006017.3(PROM1):c.1320C>T (p.Val440=) rs765602610 0.00001
NM_006017.3(PROM1):c.1327T>C (p.Ser443Pro) rs1725583230 0.00001
NM_006017.3(PROM1):c.132A>T (p.Gln44His) rs1743832907 0.00001
NM_006017.3(PROM1):c.1385G>T (p.Gly462Val) rs1209718198 0.00001
NM_006017.3(PROM1):c.1414C>T (p.Arg472Ter) rs761152494 0.00001
NM_006017.3(PROM1):c.1434C>T (p.Thr478=) rs761939598 0.00001
NM_006017.3(PROM1):c.1435G>A (p.Gly479Arg) rs774504919 0.00001
NM_006017.3(PROM1):c.1486A>G (p.Ile496Val) rs776578619 0.00001
NM_006017.3(PROM1):c.152C>T (p.Pro51Leu) rs1174298048 0.00001
NM_006017.3(PROM1):c.1560G>A (p.Thr520=) rs775841074 0.00001
NM_006017.3(PROM1):c.1569A>C (p.Glu523Asp) rs769133658 0.00001
NM_006017.3(PROM1):c.1578+7A>G rs771473951 0.00001
NM_006017.3(PROM1):c.1578+9G>C rs747638667 0.00001
NM_006017.3(PROM1):c.1579-1G>C rs372513650 0.00001
NM_006017.3(PROM1):c.1579-2A>C rs1472802723 0.00001
NM_006017.3(PROM1):c.1593C>T (p.Pro531=) rs1722872127 0.00001
NM_006017.3(PROM1):c.1615G>A (p.Glu539Lys) rs540003024 0.00001
NM_006017.3(PROM1):c.1616A>T (p.Glu539Val) rs866140263 0.00001
NM_006017.3(PROM1):c.1651A>G (p.Lys551Glu) rs760815481 0.00001
NM_006017.3(PROM1):c.165C>T (p.Leu55=) rs1185502209 0.00001
NM_006017.3(PROM1):c.1697A>T (p.Asn566Ile) rs376676164 0.00001
NM_006017.3(PROM1):c.1710C>T (p.Tyr570=) rs201644238 0.00001
NM_006017.3(PROM1):c.1711G>A (p.Gly571Ser) rs953440200 0.00001
NM_006017.3(PROM1):c.1717C>T (p.Leu573Phe) rs886059201 0.00001
NM_006017.3(PROM1):c.1722C>T (p.His574=) rs769250596 0.00001
NM_006017.3(PROM1):c.1730A>G (p.Asn577Ser) rs1448174401 0.00001
NM_006017.3(PROM1):c.1738A>C (p.Asn580His) rs199674847 0.00001
NM_006017.3(PROM1):c.1739A>G (p.Asn580Ser) rs1721701534 0.00001
NM_006017.3(PROM1):c.1746T>G (p.Ser582Arg) rs781323323 0.00001
NM_006017.3(PROM1):c.1768-16C>T rs1405763627 0.00001
NM_006017.3(PROM1):c.1778G>A (p.Ser593Asn) rs1371269052 0.00001
NM_006017.3(PROM1):c.1856A>G (p.Gln619Arg) rs905919709 0.00001
NM_006017.3(PROM1):c.1953A>G (p.Ala651=) rs774705029 0.00001
NM_006017.3(PROM1):c.1983+18G>A rs767494089 0.00001
NM_006017.3(PROM1):c.1984-10C>G rs1720536932 0.00001
NM_006017.3(PROM1):c.1984-1G>T rs373680665 0.00001
NM_006017.3(PROM1):c.1984C>A (p.Pro662Thr) rs1171955918 0.00001
NM_006017.3(PROM1):c.1995T>C (p.Asn665=) rs750885395 0.00001
NM_006017.3(PROM1):c.203C>T (p.Pro68Leu) rs374498717 0.00001
NM_006017.3(PROM1):c.205C>T (p.Arg69Cys) rs769617038 0.00001
NM_006017.3(PROM1):c.2062A>G (p.Ile688Val) rs760554830 0.00001
NM_006017.3(PROM1):c.2076+17T>C rs781437553 0.00001
NM_006017.3(PROM1):c.2078G>A (p.Ser693Asn) rs773202851 0.00001
NM_006017.3(PROM1):c.2092A>G (p.Ser698Gly) rs1719817368 0.00001
NM_006017.3(PROM1):c.2099A>G (p.Lys700Arg) rs1433125980 0.00001
NM_006017.3(PROM1):c.2110C>T (p.Arg704Cys) rs1302809734 0.00001
NM_006017.3(PROM1):c.2115A>G (p.Thr705=) rs758987229 0.00001
NM_006017.3(PROM1):c.2130+15T>C rs1217220707 0.00001
NM_006017.3(PROM1):c.2130+2del rs768303070 0.00001
NM_006017.3(PROM1):c.2151A>G (p.Leu717=) rs561864815 0.00001
NM_006017.3(PROM1):c.220+1G>C rs779454059 0.00001
NM_006017.3(PROM1):c.220+7G>A rs768718033 0.00001
NM_006017.3(PROM1):c.2213A>C (p.Glu738Ala) rs944223905 0.00001
NM_006017.3(PROM1):c.2281-10A>G rs775407190 0.00001
NM_006017.3(PROM1):c.2281-3del rs1718769525 0.00001
NM_006017.3(PROM1):c.2296G>T (p.Ala766Ser) rs1468615991 0.00001
NM_006017.3(PROM1):c.2300C>T (p.Ser767Leu) rs369831677 0.00001
NM_006017.3(PROM1):c.2309C>A (p.Pro770His) rs568361529 0.00001
NM_006017.3(PROM1):c.2327A>T (p.Asp776Val) rs1033920857 0.00001
NM_006017.3(PROM1):c.2374-10T>G rs1717565502 0.00001
NM_006017.3(PROM1):c.2384G>T (p.Trp795Leu) rs1270591286 0.00001
NM_006017.3(PROM1):c.2387T>A (p.Phe796Tyr) rs376134203 0.00001
NM_006017.3(PROM1):c.2421G>A (p.Pro807=) rs1168993426 0.00001
NM_006017.3(PROM1):c.245A>G (p.Lys82Arg) rs953508617 0.00001
NM_006017.3(PROM1):c.247G>A (p.Ala83Thr) rs200528560 0.00001
NM_006017.3(PROM1):c.2481G>A (p.Val827=) rs1423192339 0.00001
NM_006017.3(PROM1):c.2484C>T (p.Tyr828=) rs768616945 0.00001
NM_006017.3(PROM1):c.2489+13G>A rs1176549155 0.00001
NM_006017.3(PROM1):c.2489+19A>G rs752012414 0.00001
NM_006017.3(PROM1):c.2489+7A>G rs775630400 0.00001
NM_006017.3(PROM1):c.2489+9G>A rs1405241445 0.00001
NM_006017.3(PROM1):c.2490-18C>T rs1341829152 0.00001
NM_006017.3(PROM1):c.2551G>A (p.Val851Ile) rs201910962 0.00001
NM_006017.3(PROM1):c.279A>G (p.Pro93=) rs1272122853 0.00001
NM_006017.3(PROM1):c.303+1G>T rs777673930 0.00001
NM_006017.3(PROM1):c.313T>C (p.Tyr105His) rs929586700 0.00001
NM_006017.3(PROM1):c.314A>G (p.Tyr105Cys) rs570279948 0.00001
NM_006017.3(PROM1):c.356T>G (p.Phe119Cys) rs758752833 0.00001
NM_006017.3(PROM1):c.361A>T (p.Ile121Phe) rs765642019 0.00001
NM_006017.3(PROM1):c.370C>G (p.Pro124Ala) rs766545681 0.00001
NM_006017.3(PROM1):c.401G>A (p.Arg134His) rs749128711 0.00001
NM_006017.3(PROM1):c.444G>A (p.Lys148=) rs1190167770 0.00001
NM_006017.3(PROM1):c.505A>G (p.Ile169Val) rs761899407 0.00001
NM_006017.3(PROM1):c.522C>G (p.Phe174Leu) rs1479926378 0.00001
NM_006017.3(PROM1):c.559A>G (p.Ile187Val) rs376885208 0.00001
NM_006017.3(PROM1):c.585T>C (p.Asp195=) rs1190746994 0.00001
NM_006017.3(PROM1):c.605G>A (p.Arg202Gln) rs200352674 0.00001
NM_006017.3(PROM1):c.631-17G>A rs760544667 0.00001
NM_006017.3(PROM1):c.677C>T (p.Ala226Val) rs376198840 0.00001
NM_006017.3(PROM1):c.6C>G (p.Ala2=) rs1169051313 0.00001
NM_006017.3(PROM1):c.706G>A (p.Val236Met) rs536161084 0.00001
NM_006017.3(PROM1):c.730C>T (p.Arg244Ter) rs373331232 0.00001
NM_006017.3(PROM1):c.743A>G (p.Asn248Ser) rs201268754 0.00001
NM_006017.3(PROM1):c.751C>G (p.Pro251Ala) rs768744555 0.00001
NM_006017.3(PROM1):c.785-17G>A rs574658646 0.00001
NM_006017.3(PROM1):c.895C>T (p.Arg299Trp) rs200809630 0.00001
NM_006017.3(PROM1):c.89A>G (p.Lys30Arg) rs767532343 0.00001
NM_006017.3(PROM1):c.908A>G (p.Asn303Ser) rs1205174347 0.00001
NM_006017.3(PROM1):c.970A>G (p.Ser324Gly) rs766654108 0.00001
NM_006017.3(PROM1):c.97A>G (p.Asn33Asp) rs761208782 0.00001
NM_006017.3(PROM1):c.9C>T (p.Leu3=) rs781658379 0.00001
GRCh37/hg19 4p15.32(chr4:16042466-16135616)x1
NC_000004.11:g.(?_15972690)_(15972725_?)dup
NC_000004.11:g.(?_15985866)_(15986004_?)del
NC_000004.11:g.(?_15985866)_(15989359_?)del
NC_000004.11:g.(?_15987363)_(15989359_?)dup
NC_000004.11:g.(?_15993851)_(15994034_?)del
NC_000004.11:g.(?_15993851)_(15995714_?)del
NC_000004.11:g.(?_16014878)_(16014981_?)del
NC_000004.11:g.(?_16017769)_(16017883_?)del
NC_000004.11:g.(?_16034907)_(16037404_?)del
NC_000004.11:g.(?_16034927)_(16050534_?)dup
NC_000004.11:g.(?_16077290)_(16077529_?)del
NC_000004.12:g.(?_15992248)_(15994071_?)del
NC_000004.12:g.(?_15992248)_(15998488_?)del
NC_000004.12:g.(?_16016166)_(16075906_?)dup
NC_000004.12:g.(?_16048828)_(16075906_?)del
NC_000004.12:g.(?_16075687)_(16075906_?)del
NM_006017.3(PROM1):c.1000C>T (p.Gln334Ter)
NM_006017.3(PROM1):c.1002+12T>C
NM_006017.3(PROM1):c.1002+13G>C
NM_006017.3(PROM1):c.1002G>A (p.Gln334=) rs1275031408
NM_006017.3(PROM1):c.1003-126_1008del
NM_006017.3(PROM1):c.1005T>G (p.Leu335=)
NM_006017.3(PROM1):c.1010C>G (p.Pro337Arg)
NM_006017.3(PROM1):c.1012G>A (p.Val338Met)
NM_006017.3(PROM1):c.1027G>A (p.Asp343Asn)
NM_006017.3(PROM1):c.102T>C (p.Tyr34=)
NM_006017.3(PROM1):c.1030A>G (p.Asn344Asp) rs201244531
NM_006017.3(PROM1):c.1036A>G (p.Asn346Asp) rs1414948996
NM_006017.3(PROM1):c.1044T>C (p.Val348=)
NM_006017.3(PROM1):c.1047T>C (p.Leu349=) rs2149291357
NM_006017.3(PROM1):c.1052C>T (p.Thr351Ile) rs2149291296
NM_006017.3(PROM1):c.1070T>A (p.Val357Asp) rs2149291244
NM_006017.3(PROM1):c.1071C>T (p.Val357=)
NM_006017.3(PROM1):c.1074_1076dup (p.Gln359dup) rs2149291195
NM_006017.3(PROM1):c.1077+15A>G rs2149291022
NM_006017.3(PROM1):c.1077+1G>C rs745495162
NM_006017.3(PROM1):c.1077+8T>G
NM_006017.3(PROM1):c.1078-20T>C
NM_006017.3(PROM1):c.1078-3del
NM_006017.3(PROM1):c.1085A>G (p.Gln362Arg) rs2149273562
NM_006017.3(PROM1):c.108G>A (p.Leu36=) rs1201865936
NM_006017.3(PROM1):c.1099A>G (p.Ile367Val)
NM_006017.3(PROM1):c.1108A>G (p.Arg370Gly)
NM_006017.3(PROM1):c.1116A>G (p.Gln372=)
NM_006017.3(PROM1):c.1117C>T (p.Arg373Cys) rs137853006
NM_006017.3(PROM1):c.1118G>A (p.Arg373His)
NM_006017.3(PROM1):c.111T>A (p.Pro37=) rs2149586204
NM_006017.3(PROM1):c.1134C>T (p.Val378=)
NM_006017.3(PROM1):c.1136T>C (p.Val379Ala) rs752643119
NM_006017.3(PROM1):c.1139C>T (p.Ala380Val) rs1369542308
NM_006017.3(PROM1):c.1141+11_1141+12del rs775941560
NM_006017.3(PROM1):c.1141G>A (p.Gly381Ser)
NM_006017.3(PROM1):c.1142-14A>G
NM_006017.3(PROM1):c.1142-17G>T rs7678033
NM_006017.3(PROM1):c.1142G>A (p.Gly381Asp)
NM_006017.3(PROM1):c.1142G>T (p.Gly381Val)
NM_006017.3(PROM1):c.1150A>G (p.Arg384Gly) rs2149250384
NM_006017.3(PROM1):c.1154T>C (p.Val385Ala)
NM_006017.3(PROM1):c.1162T>C (p.Ser388Pro)
NM_006017.3(PROM1):c.1177_1178del (p.Ile393fs) rs746174328
NM_006017.3(PROM1):c.1178T>G (p.Ile393Ser) rs773039992
NM_006017.3(PROM1):c.1179C>G (p.Ile393Met)
NM_006017.3(PROM1):c.1187dup (p.Thr397fs)
NM_006017.3(PROM1):c.1189A>C (p.Thr397Pro) rs2149250062
NM_006017.3(PROM1):c.1204A>C (p.Ile402Leu) rs1726218291
NM_006017.3(PROM1):c.1204A>G (p.Ile402Val) rs1726218291
NM_006017.3(PROM1):c.1209G>A (p.Gln403=)
NM_006017.3(PROM1):c.1210G>A (p.Asp404Asn)
NM_006017.3(PROM1):c.1218C>G (p.Leu406=) rs886059203
NM_006017.3(PROM1):c.1234T>C (p.Tyr412His)
NM_006017.3(PROM1):c.1234_1239del (p.Tyr412_Val413del) rs1726202525
NM_006017.3(PROM1):c.1234del (p.Tyr412fs) rs1460604134
NM_006017.3(PROM1):c.1258A>G (p.Ile420Val)
NM_006017.3(PROM1):c.1260C>T (p.Ile420=)
NM_006017.3(PROM1):c.1263C>T (p.His421=) rs2149249352
NM_006017.3(PROM1):c.1272A>T (p.Leu424Phe) rs753768737
NM_006017.3(PROM1):c.1273C>T (p.Pro425Ser)
NM_006017.3(PROM1):c.1279T>A (p.Leu427Met) rs200710798
NM_006017.3(PROM1):c.1282dup (p.Glu428fs) rs2149249120
NM_006017.3(PROM1):c.1287G>C (p.Glu429Asp) rs2149249086
NM_006017.3(PROM1):c.1289A>C (p.Tyr430Ser) rs1324976779
NM_006017.3(PROM1):c.1301+10_1301+11delinsAA rs2149248888
NM_006017.3(PROM1):c.1301+11C>T rs189953160
NM_006017.3(PROM1):c.1301+1G>A
NM_006017.3(PROM1):c.1302-4C>T rs2149236238
NM_006017.3(PROM1):c.1302-6C>T rs372683691
NM_006017.3(PROM1):c.1309G>A (p.Gly437Ser) rs1725586921
NM_006017.3(PROM1):c.1315C>T (p.Leu439=)
NM_006017.3(PROM1):c.1333C>T (p.Leu445=)
NM_006017.3(PROM1):c.1337C>A (p.Thr446Asn) rs1346289528
NM_006017.3(PROM1):c.133G>A (p.Asp45Asn) rs2149586099
NM_006017.3(PROM1):c.1341C>T (p.Leu447=)
NM_006017.3(PROM1):c.1344C>A (p.Ile448=) rs147174580
NM_006017.3(PROM1):c.1354dup (p.Tyr452fs) rs543698823
NM_006017.3(PROM1):c.1360C>G (p.Leu454Val)
NM_006017.3(PROM1):c.1373G>A (p.Cys458Tyr)
NM_006017.3(PROM1):c.1383C>T (p.Cys461=)
NM_006017.3(PROM1):c.1386C>T (p.Gly462=) rs756075405
NM_006017.3(PROM1):c.1388A>G (p.Tyr463Cys)
NM_006017.3(PROM1):c.1392C>T (p.Asp464=) rs1725562698
NM_006017.3(PROM1):c.139del (p.His47fs) rs747512450
NM_006017.3(PROM1):c.1403C>T (p.Thr468Ile)
NM_006017.3(PROM1):c.140A>G (p.His47Arg)
NM_006017.3(PROM1):c.1410C>A (p.Thr470=) rs754115347
NM_006017.3(PROM1):c.1414_1415insTCC (p.Thr471_Arg472insLeu)
NM_006017.3(PROM1):c.1415G>A (p.Arg472Gln)
NM_006017.3(PROM1):c.1422T>C (p.Cys474=)
NM_006017.3(PROM1):c.1423_1424del (p.Val475fs) rs1386427036
NM_006017.3(PROM1):c.1424T>A (p.Val475Asp) rs2149234796
NM_006017.3(PROM1):c.1440C>T (p.Gly480=)
NM_006017.3(PROM1):c.1441G>T (p.Val481Phe) rs982634579
NM_006017.3(PROM1):c.1444T>G (p.Phe482Val)
NM_006017.3(PROM1):c.1454+10T>C
NM_006017.3(PROM1):c.1454+15CT[2] rs143998754
NM_006017.3(PROM1):c.1455-1G>A rs1723543163
NM_006017.3(PROM1):c.1455-20A>G
NM_006017.3(PROM1):c.1455-4C>A rs1577944546
NM_006017.3(PROM1):c.1463_1466delinsC (p.Gly488_Leu489delinsAla) rs2149188387
NM_006017.3(PROM1):c.1474C>G (p.Leu492Val)
NM_006017.3(PROM1):c.1494G>C (p.Met498Ile)
NM_006017.3(PROM1):c.1495A>G (p.Ile499Val) rs1055784097
NM_006017.3(PROM1):c.1500del (p.Ile500fs) rs1482618215
NM_006017.3(PROM1):c.1526C>A (p.Ala509Glu) rs2149187758
NM_006017.3(PROM1):c.1528A>T (p.Asn510Tyr) rs1723517670
NM_006017.3(PROM1):c.1537A>G (p.Lys513Glu)
NM_006017.3(PROM1):c.1539del (p.Lys513fs)
NM_006017.3(PROM1):c.1551A>G (p.Glu517=)
NM_006017.3(PROM1):c.1555T>G (p.Tyr519Asp)
NM_006017.3(PROM1):c.1559C>G (p.Thr520Arg)
NM_006017.3(PROM1):c.1563C>A (p.Ser521Arg) rs919737536
NM_006017.3(PROM1):c.1564A>G (p.Lys522Glu)
NM_006017.3(PROM1):c.1572A>C (p.Leu524Phe)
NM_006017.3(PROM1):c.1578+13T>C rs2149186734
NM_006017.3(PROM1):c.1578+18C>T
NM_006017.3(PROM1):c.1578+1G>A rs1553901823
NM_006017.3(PROM1):c.1578G>A (p.Arg526=) rs1723490529
NM_006017.3(PROM1):c.1579-16del rs772922223
NM_006017.3(PROM1):c.1579-3T>C
NM_006017.3(PROM1):c.1579-3T>G rs1355865032
NM_006017.3(PROM1):c.1584G>A (p.Leu528=)
NM_006017.3(PROM1):c.1589C>T (p.Thr530Ile) rs1722873448
NM_006017.3(PROM1):c.158G>A (p.Gly53Asp) rs755064227
NM_006017.3(PROM1):c.1591C>T (p.Pro531Ser) rs768200385
NM_006017.3(PROM1):c.1596C>T (p.Tyr532=) rs1560442112
NM_006017.3(PROM1):c.1599A>C (p.Leu533Phe)
NM_006017.3(PROM1):c.15C>G (p.Leu5=) rs10033189
NM_006017.3(PROM1):c.1603A>C (p.Asn535His) rs1577928508
NM_006017.3(PROM1):c.1605T>G (p.Asn535Lys)
NM_006017.3(PROM1):c.160A>G (p.Ile54Val)
NM_006017.3(PROM1):c.1611C>G (p.Asp537Glu) rs1722864414
NM_006017.3(PROM1):c.161T>C (p.Ile54Thr)
NM_006017.3(PROM1):c.1622A>G (p.Tyr541Cys)
NM_006017.3(PROM1):c.1628_1629del (p.Ser543fs) rs1295259849
NM_006017.3(PROM1):c.162T>G (p.Ile54Met)
NM_006017.3(PROM1):c.1638A>G (p.Leu546=)
NM_006017.3(PROM1):c.1645_1648del (p.Lys549fs) rs1722855407
NM_006017.3(PROM1):c.1648_1651del (p.Ser550fs) rs2149169604
NM_006017.3(PROM1):c.1655T>C (p.Met552Thr)
NM_006017.3(PROM1):c.1656G>A (p.Met552Ile) rs1722852636
NM_006017.3(PROM1):c.1663A>C (p.Thr555Pro) rs767236230
NM_006017.3(PROM1):c.1682+19T>C
NM_006017.3(PROM1):c.1682+3A>G rs1326022839
NM_006017.3(PROM1):c.1683-18C>T rs750658460
NM_006017.3(PROM1):c.1683-5C>T
NM_006017.3(PROM1):c.1683-8T>A rs1721723050
NM_006017.3(PROM1):c.1695A>C (p.Lys565Asn)
NM_006017.3(PROM1):c.1697A>G (p.Asn566Ser) rs376676164
NM_006017.3(PROM1):c.1697dup (p.Asn566fs) rs762078182
NM_006017.3(PROM1):c.169G>A (p.Glu57Lys)
NM_006017.3(PROM1):c.16G>A (p.Gly6Ser)
NM_006017.3(PROM1):c.1705A>C (p.Thr569Pro) rs775023806
NM_006017.3(PROM1):c.1709_1710insAA (p.Tyr570Ter) rs1721714409
NM_006017.3(PROM1):c.1709dup (p.Tyr570Ter)
NM_006017.3(PROM1):c.1710C>A (p.Tyr570Ter) rs201644238
NM_006017.3(PROM1):c.1716T>C (p.Thr572=) rs772552632
NM_006017.3(PROM1):c.1718T>A (p.Leu573His) rs748466005
NM_006017.3(PROM1):c.1731C>T (p.Asn577=)
NM_006017.3(PROM1):c.1744del (p.Ser582fs)
NM_006017.3(PROM1):c.1748A>G (p.Glu583Gly)
NM_006017.3(PROM1):c.1760T>C (p.Ile587Thr) rs1721695203
NM_006017.3(PROM1):c.1767+14G>A
NM_006017.3(PROM1):c.1767+14G>T
NM_006017.3(PROM1):c.1767+17A>T
NM_006017.3(PROM1):c.1767+1G>A rs1464894081
NM_006017.3(PROM1):c.1767+3A>G
NM_006017.3(PROM1):c.1767G>A (p.Glu589=)
NM_006017.3(PROM1):c.1767G>T (p.Glu589Asp)
NM_006017.3(PROM1):c.1768-4G>A rs766013910
NM_006017.3(PROM1):c.1768-4G>T rs766013910
NM_006017.3(PROM1):c.1768C>T (p.His590Tyr) rs2149123828
NM_006017.3(PROM1):c.1784G>A (p.Ser595Asn) rs1721282660
NM_006017.3(PROM1):c.1789G>A (p.Glu597Lys) rs2149123669
NM_006017.3(PROM1):c.178C>T (p.His60Tyr)
NM_006017.3(PROM1):c.1796A>T (p.Glu599Val) rs1721280933
NM_006017.3(PROM1):c.1799G>T (p.Ser600Ile)
NM_006017.3(PROM1):c.1806G>A (p.Lys602=)
NM_006017.3(PROM1):c.1811A>G (p.Asn604Ser)
NM_006017.3(PROM1):c.1813C>G (p.Leu605Val)
NM_006017.3(PROM1):c.1817dup (p.Asn606fs)
NM_006017.3(PROM1):c.1820T>A (p.Ile607Asn)
NM_006017.3(PROM1):c.1827G>T (p.Leu609=)
NM_006017.3(PROM1):c.1834G>C (p.Ala612Pro) rs771046422
NM_006017.3(PROM1):c.1838C>T (p.Ala613Val)
NM_006017.3(PROM1):c.1849A>C (p.Asn617His) rs373833725
NM_006017.3(PROM1):c.1855C>T (p.Gln619Ter)
NM_006017.3(PROM1):c.1863T>G (p.Phe621Leu) rs1721260963
NM_006017.3(PROM1):c.1874G>T (p.Gly625Val)
NM_006017.3(PROM1):c.1877T>G (p.Ile626Arg)
NM_006017.3(PROM1):c.1882A>G (p.Arg628Gly)
NM_006017.3(PROM1):c.1887_1890del (p.Met629fs) rs1459317703
NM_006017.3(PROM1):c.18C>A (p.Gly6=) rs2149586818
NM_006017.3(PROM1):c.1901A>G (p.Tyr634Cys)
NM_006017.3(PROM1):c.1906G>T (p.Ala636Ser) rs2149122375
NM_006017.3(PROM1):c.1911+18A>G
NM_006017.3(PROM1):c.1911+1G>A
NM_006017.3(PROM1):c.1911+4T>C
NM_006017.3(PROM1):c.1922C>A (p.Ser641Tyr)
NM_006017.3(PROM1):c.1922C>T (p.Ser641Phe) rs2149113732
NM_006017.3(PROM1):c.1927G>T (p.Ala643Ser) rs748475864
NM_006017.3(PROM1):c.1931G>A (p.Gly644Glu)
NM_006017.3(PROM1):c.1939C>T (p.Leu647Phe) rs1383090074
NM_006017.3(PROM1):c.1946C>A (p.Ser649Ter) rs761911901
NM_006017.3(PROM1):c.1951G>T (p.Ala651Ser)
NM_006017.3(PROM1):c.1956T>G (p.Tyr652Ter) rs2149113303
NM_006017.3(PROM1):c.1960C>T (p.Leu654=)
NM_006017.3(PROM1):c.1962A>G (p.Leu654=) rs2149113246
NM_006017.3(PROM1):c.1965A>C (p.Glu655Asp)
NM_006017.3(PROM1):c.1966G>A (p.Ala656Thr)
NM_006017.3(PROM1):c.1970A>G (p.Lys657Arg)
NM_006017.3(PROM1):c.1983+14G>C
NM_006017.3(PROM1):c.1983+5G>T rs1560421595
NM_006017.3(PROM1):c.1984-14T>C rs757998973
NM_006017.3(PROM1):c.1984-20G>C
NM_006017.3(PROM1):c.1984-8T>C
NM_006017.3(PROM1):c.1989A>G (p.Pro663=)
NM_006017.3(PROM1):c.199C>T (p.Gln67Ter) rs751460221
NM_006017.3(PROM1):c.1A>G (p.Met1Val) rs748974608
NM_006017.3(PROM1):c.2011A>T (p.Lys671Ter)
NM_006017.3(PROM1):c.2019T>A (p.Asp673Glu)
NM_006017.3(PROM1):c.2020G>A (p.Ala674Thr)
NM_006017.3(PROM1):c.2020G>T (p.Ala674Ser) rs775321230
NM_006017.3(PROM1):c.2021C>T (p.Ala674Val) rs1203615168
NM_006017.3(PROM1):c.2023C>T (p.Gln675Ter) rs1324631413
NM_006017.3(PROM1):c.2028T>A (p.Thr676=) rs1441995279
NM_006017.3(PROM1):c.2042A>G (p.His681Arg)
NM_006017.3(PROM1):c.2043C>T (p.His681=) rs753006062
NM_006017.3(PROM1):c.2046G>A (p.Gln682=)
NM_006017.3(PROM1):c.204G>A (p.Pro68=)
NM_006017.3(PROM1):c.2050C>G (p.Arg684Gly) rs530749007
NM_006017.3(PROM1):c.2050C>T (p.Arg684Ter) rs530749007
NM_006017.3(PROM1):c.206G>A (p.Arg69His)
NM_006017.3(PROM1):c.2076+11_2076+14del
NM_006017.3(PROM1):c.2076+13G>A
NM_006017.3(PROM1):c.2076+14A>G
NM_006017.3(PROM1):c.2076+7G>A
NM_006017.3(PROM1):c.2076+80C>T rs2240685
NM_006017.3(PROM1):c.2077-14_2077-13del
NM_006017.3(PROM1):c.2077-15T>C
NM_006017.3(PROM1):c.2077-17_2077-15del rs771315260
NM_006017.3(PROM1):c.2077-19A>G rs2149091441
NM_006017.3(PROM1):c.2077-521A>T
NM_006017.3(PROM1):c.2080A>G (p.Thr694Ala)
NM_006017.3(PROM1):c.2094C>A (p.Ser698Arg) rs199727800
NM_006017.3(PROM1):c.2094C>T (p.Ser698=) rs199727800
NM_006017.3(PROM1):c.20C>T (p.Ser7Phe)
NM_006017.3(PROM1):c.2104C>G (p.Leu702Val) rs1183106670
NM_006017.3(PROM1):c.2113A>G (p.Thr705Ala)
NM_006017.3(PROM1):c.2130+15dup rs746459881
NM_006017.3(PROM1):c.2130+1G>C rs1719804501
NM_006017.3(PROM1):c.2130+3A>G
NM_006017.3(PROM1):c.2130+95G>A rs2191004
NM_006017.3(PROM1):c.2130G>A (p.Leu710=) rs1490681961
NM_006017.3(PROM1):c.2131-16_2131-15del rs2149081198
NM_006017.3(PROM1):c.2131-1G>A rs1577845276
NM_006017.3(PROM1):c.2136A>G (p.Arg712=) rs2149081072
NM_006017.3(PROM1):c.2167G>A (p.Ala723Thr) rs755083222
NM_006017.3(PROM1):c.2167G>T (p.Ala723Ser)
NM_006017.3(PROM1):c.216A>G (p.Pro72=)
NM_006017.3(PROM1):c.2170C>T (p.Gln724Ter) rs1719307363
NM_006017.3(PROM1):c.2181C>G (p.Ile727Met) rs1719302246
NM_006017.3(PROM1):c.2194T>A (p.Ser732Thr)
NM_006017.3(PROM1):c.2196del (p.Ser733fs) rs1381481518
NM_006017.3(PROM1):c.2198_2199del (p.Ser733fs) rs1177575798
NM_006017.3(PROM1):c.220+10G>A rs1369088122
NM_006017.3(PROM1):c.220+19G>A rs1023560480
NM_006017.3(PROM1):c.220+20A>C
NM_006017.3(PROM1):c.220+2T>A rs2149585436
NM_006017.3(PROM1):c.220+6T>G rs2149585402
NM_006017.3(PROM1):c.2207T>C (p.Ile736Thr)
NM_006017.3(PROM1):c.221-11T>C
NM_006017.3(PROM1):c.221-16G>A rs1203173727
NM_006017.3(PROM1):c.221-1_223dup rs1734568558
NM_006017.3(PROM1):c.221-20T>G rs1018149966
NM_006017.3(PROM1):c.221-5del rs749014145
NM_006017.3(PROM1):c.221-9T>C
NM_006017.3(PROM1):c.2211+1G>A rs1719285721
NM_006017.3(PROM1):c.2211+2T>C
NM_006017.3(PROM1):c.2211+6C>T rs1719282656
NM_006017.3(PROM1):c.2212-1G>A
NM_006017.3(PROM1):c.2212-4C>G rs2149079096
NM_006017.3(PROM1):c.2215del (p.Thr739fs) rs2149078995
NM_006017.3(PROM1):c.2231G>C (p.Arg744Thr)
NM_006017.3(PROM1):c.2238A>T (p.Ile746=) rs2149078764
NM_006017.3(PROM1):c.2250del (p.Phe750fs)
NM_006017.3(PROM1):c.2258A>G (p.Tyr753Cys) rs769950356
NM_006017.3(PROM1):c.2269A>T (p.Ile757Phe)
NM_006017.3(PROM1):c.2280+19A>G rs1719199588
NM_006017.3(PROM1):c.2280+1G>A rs2149078329
NM_006017.3(PROM1):c.2280+4A>T
NM_006017.3(PROM1):c.2280+8G>A rs2149078265
NM_006017.3(PROM1):c.2281-16G>A rs763535090
NM_006017.3(PROM1):c.2281-2A>G rs1718768311
NM_006017.3(PROM1):c.2281-4del rs750359030
NM_006017.3(PROM1):c.2281-4dup
NM_006017.3(PROM1):c.2281-5C>G rs777654968
NM_006017.3(PROM1):c.2281-6C>A
NM_006017.3(PROM1):c.2281-6C>T
NM_006017.3(PROM1):c.2281-7_2281-6delinsAG rs1718776025
NM_006017.3(PROM1):c.2281-8C>A
NM_006017.3(PROM1):c.2281-8C>T rs368862821
NM_006017.3(PROM1):c.2284A>C (p.Ser762Arg)
NM_006017.3(PROM1):c.2296G>A (p.Ala766Thr) rs1468615991
NM_006017.3(PROM1):c.2299T>A (p.Ser767Thr)
NM_006017.3(PROM1):c.22C>T (p.Leu8=)
NM_006017.3(PROM1):c.2301G>A (p.Ser767=)
NM_006017.3(PROM1):c.2305A>T (p.Lys769Ter) rs2149068325
NM_006017.3(PROM1):c.2315C>T (p.Ala772Val)
NM_006017.3(PROM1):c.2320G>A (p.Ala774Thr) rs398124216
NM_006017.3(PROM1):c.2325A>G (p.Leu775=)
NM_006017.3(PROM1):c.2329dup (p.Thr777fs) rs2149068027
NM_006017.3(PROM1):c.2330C>T (p.Thr777Ile)
NM_006017.3(PROM1):c.2335G>A (p.Val779Ile)
NM_006017.3(PROM1):c.2351G>A (p.Cys784Tyr)
NM_006017.3(PROM1):c.2362_2372del (p.Ile788fs) rs778618612
NM_006017.3(PROM1):c.2373+5G>T rs2149067614
NM_006017.3(PROM1):c.2374-13T>A rs773542265
NM_006017.3(PROM1):c.2374-14dup rs370477050
NM_006017.3(PROM1):c.2374-19_2374-17del
NM_006017.3(PROM1):c.2374-4C>A
NM_006017.3(PROM1):c.2374-5C>T
NM_006017.3(PROM1):c.2374-5dup rs34269395
NM_006017.3(PROM1):c.2374-6_2374-5insTC rs1717558920
NM_006017.3(PROM1):c.2374-6delinsCC rs398124217
NM_006017.3(PROM1):c.2374-8T>C
NM_006017.3(PROM1):c.2383T>C (p.Trp795Arg)
NM_006017.3(PROM1):c.238T>G (p.Leu80Val)
NM_006017.3(PROM1):c.2401G>A (p.Ala801Thr) rs1461675875
NM_006017.3(PROM1):c.2401G>T (p.Ala801Ser)
NM_006017.3(PROM1):c.2407G>T (p.Val803Leu)
NM_006017.3(PROM1):c.2409del (p.Leu805fs)
NM_006017.3(PROM1):c.2414dup (p.Leu805fs) rs1717541693
NM_006017.3(PROM1):c.2419C>T (p.Pro807Ser)
NM_006017.3(PROM1):c.241C>T (p.Gln81Ter)
NM_006017.3(PROM1):c.2436G>A (p.Ala812=)
NM_006017.3(PROM1):c.2453A>G (p.Tyr818Cys)
NM_006017.3(PROM1):c.2456A>G (p.Tyr819Cys)
NM_006017.3(PROM1):c.2458C>G (p.Arg820Gly) rs755446696
NM_006017.3(PROM1):c.2458C>T (p.Arg820Cys) rs755446696
NM_006017.3(PROM1):c.2461C>T (p.Arg821Ter) rs766357803
NM_006017.3(PROM1):c.2462G>A (p.Arg821Gln)
NM_006017.3(PROM1):c.2479G>A (p.Val827Met) rs866191488
NM_006017.3(PROM1):c.2480T>C (p.Val827Ala) rs886059198
NM_006017.3(PROM1):c.2489+18C>T
NM_006017.3(PROM1):c.2489+1G>A
NM_006017.3(PROM1):c.2489+20C>T
NM_006017.3(PROM1):c.2490-11G>A rs1404233284
NM_006017.3(PROM1):c.2490-12dup
NM_006017.3(PROM1):c.2490-17T>C
NM_006017.3(PROM1):c.2490-20C>T
NM_006017.3(PROM1):c.2490-7T>C rs1717321830
NM_006017.3(PROM1):c.2500A>G (p.Ile834Val)
NM_006017.3(PROM1):c.2501T>C (p.Ile834Thr)
NM_006017.3(PROM1):c.2513+11T>A
NM_006017.3(PROM1):c.2513+19A>G rs1577792083
NM_006017.3(PROM1):c.2513+3A>T rs1212167770
NM_006017.3(PROM1):c.2513+4A>C
NM_006017.3(PROM1):c.2513A>T (p.Asn838Ile)
NM_006017.3(PROM1):c.2514-4A>G rs1236769724
NM_006017.3(PROM1):c.2515A>G (p.Met839Val) rs2149032694
NM_006017.3(PROM1):c.2516T>C (p.Met839Thr) rs758726922
NM_006017.3(PROM1):c.2531A>G (p.Asn844Ser)
NM_006017.3(PROM1):c.2534G>C (p.Gly845Ala)
NM_006017.3(PROM1):c.2534G>T (p.Gly845Val)
NM_006017.3(PROM1):c.2537A>C (p.Tyr846Ser)
NM_006017.3(PROM1):c.253G>T (p.Glu85Ter) rs1734559010
NM_006017.3(PROM1):c.2545G>A (p.Asp849Asn)
NM_006017.3(PROM1):c.2549A>G (p.His850Arg)
NM_006017.3(PROM1):c.2553A>G (p.Val851=)
NM_006017.3(PROM1):c.2572G>T (p.Val858Phe)
NM_006017.3(PROM1):c.2575A>G (p.Met859Val)
NM_006017.3(PROM1):c.2576T>A (p.Met859Lys) rs1241742160
NM_006017.3(PROM1):c.2579C>T (p.Thr860Ile)
NM_006017.3(PROM1):c.2582+16G>A
NM_006017.3(PROM1):c.2582+8A>C rs2149032095
NM_006017.3(PROM1):c.2583-10dup
NM_006017.3(PROM1):c.2593C>A (p.His865Asn) rs748272325
NM_006017.3(PROM1):c.25T>C (p.Leu9=)
NM_006017.3(PROM1):c.260A>G (p.Lys87Arg)
NM_006017.3(PROM1):c.272A>G (p.Asp91Gly)
NM_006017.3(PROM1):c.276+17G>T
NM_006017.3(PROM1):c.277-14G>T rs368853623
NM_006017.3(PROM1):c.277-19C>A
NM_006017.3(PROM1):c.295G>T (p.Gly99Cys)
NM_006017.3(PROM1):c.303+14C>A
NM_006017.3(PROM1):c.303+1G>C
NM_006017.3(PROM1):c.304-12_304-9del
NM_006017.3(PROM1):c.304-98_304-94dup rs60492380
NM_006017.3(PROM1):c.304-98_304-95dup rs60492380
NM_006017.3(PROM1):c.304-98_304-97dup rs60492380
NM_006017.3(PROM1):c.304-98dup rs60492380
NM_006017.3(PROM1):c.333A>C (p.Leu111=) rs182877482
NM_006017.3(PROM1):c.341T>A (p.Val114Asp)
NM_006017.3(PROM1):c.347G>T (p.Gly116Val)
NM_006017.3(PROM1):c.348G>A (p.Gly116=)
NM_006017.3(PROM1):c.349C>T (p.Leu117=) rs2149382223
NM_006017.3(PROM1):c.369G>A (p.Met123Ile)
NM_006017.3(PROM1):c.371C>T (p.Pro124Leu)
NM_006017.3(PROM1):c.381G>A (p.Gly127=)
NM_006017.3(PROM1):c.386dup (p.Phe130fs) rs1733210295
NM_006017.3(PROM1):c.389T>C (p.Phe130Ser) rs1560533404
NM_006017.3(PROM1):c.392G>T (p.Cys131Phe) rs773950219
NM_006017.3(PROM1):c.3G>A (p.Met1Ile)
NM_006017.3(PROM1):c.400C>G (p.Arg134Gly)
NM_006017.3(PROM1):c.401G>C (p.Arg134Pro) rs749128711
NM_006017.3(PROM1):c.406T>A (p.Cys136Ser) rs2149381800
NM_006017.3(PROM1):c.414A>T (p.Lys138Asn) rs971343108
NM_006017.3(PROM1):c.425A>G (p.Glu142Gly) rs1733199051
NM_006017.3(PROM1):c.429G>T (p.Met143Ile)
NM_006017.3(PROM1):c.42C>G (p.Cys14Trp)
NM_006017.3(PROM1):c.42C>T (p.Cys14=)
NM_006017.3(PROM1):c.436C>T (p.Arg146Ter) rs780697796
NM_006017.3(PROM1):c.439C>G (p.Gln147Glu)
NM_006017.3(PROM1):c.43G>A (p.Gly15Arg)
NM_006017.3(PROM1):c.442A>T (p.Lys148Ter) rs2149381577
NM_006017.3(PROM1):c.471C>T (p.Cys157=)
NM_006017.3(PROM1):c.475G>A (p.Ala159Thr) rs1733179048
NM_006017.3(PROM1):c.477A>G (p.Ala159=) rs993866138
NM_006017.3(PROM1):c.478A>G (p.Ile160Val) rs902101079
NM_006017.3(PROM1):c.493A>G (p.Ile165Val)
NM_006017.3(PROM1):c.509+10A>G rs2149381092
NM_006017.3(PROM1):c.509+5G>A
NM_006017.3(PROM1):c.509+8C>T rs1686890857
NM_006017.3(PROM1):c.509+9_509+10del rs2149381107
NM_006017.3(PROM1):c.50C>A (p.Ser17Tyr) rs375970590
NM_006017.3(PROM1):c.510-20C>T rs1185523887
NM_006017.3(PROM1):c.510-20CT[2]
NM_006017.3(PROM1):c.510C>A (p.Ser170Arg)
NM_006017.3(PROM1):c.521T>C (p.Phe174Ser) rs1253500500
NM_006017.3(PROM1):c.532G>A (p.Val178Met) rs1340984327
NM_006017.3(PROM1):c.544C>T (p.Gln182Ter)
NM_006017.3(PROM1):c.554C>T (p.Thr185Ile)
NM_006017.3(PROM1):c.562A>G (p.Lys188Glu) rs1730955261
NM_006017.3(PROM1):c.599A>G (p.Asp200Gly) rs765051915
NM_006017.3(PROM1):c.59G>T (p.Gly20Val)
NM_006017.3(PROM1):c.600C>T (p.Asp200=)
NM_006017.3(PROM1):c.603G>A (p.Leu201=)
NM_006017.3(PROM1):c.605G>T (p.Arg202Leu) rs200352674
NM_006017.3(PROM1):c.613T>C (p.Leu205=) rs1245668116
NM_006017.3(PROM1):c.614T>C (p.Leu205Ser)
NM_006017.3(PROM1):c.622del (p.Thr208fs) rs766246531
NM_006017.3(PROM1):c.630+16T>C
NM_006017.3(PROM1):c.630+1G>A
NM_006017.3(PROM1):c.630+1del
NM_006017.3(PROM1):c.630+8C>A rs1730931644
NM_006017.3(PROM1):c.630G>A (p.Glu210=)
NM_006017.3(PROM1):c.631-10_631-8del
NM_006017.3(PROM1):c.631-13G>T
NM_006017.3(PROM1):c.631C>T (p.Gln211Ter) rs1730695660
NM_006017.3(PROM1):c.642T>A (p.Tyr214Ter) rs368213921
NM_006017.3(PROM1):c.642T>C (p.Tyr214=) rs368213921
NM_006017.3(PROM1):c.649G>A (p.Ala217Thr)
NM_006017.3(PROM1):c.65A>G (p.Gln22Arg)
NM_006017.3(PROM1):c.660C>G (p.Asn220Lys)
NM_006017.3(PROM1):c.663T>C (p.Thr221=)
NM_006017.3(PROM1):c.671A>G (p.Asp224Gly)
NM_006017.3(PROM1):c.673A>C (p.Lys225Gln) rs2149336811
NM_006017.3(PROM1):c.694+20_694+21del rs2149336548
NM_006017.3(PROM1):c.694+3G>T
NM_006017.3(PROM1):c.694+81G>A rs17478336
NM_006017.3(PROM1):c.695-10T>C
NM_006017.3(PROM1):c.695-10T>G rs2149332361
NM_006017.3(PROM1):c.695-11T>G rs2149332377
NM_006017.3(PROM1):c.695-13T>C
NM_006017.3(PROM1):c.695-16G>C rs779849808
NM_006017.3(PROM1):c.695-6A>G rs898988422
NM_006017.3(PROM1):c.695G>T (p.Ser232Ile) rs370143425
NM_006017.3(PROM1):c.728A>C (p.Asp243Ala) rs766737247
NM_006017.3(PROM1):c.731G>C (p.Arg244Pro)
NM_006017.3(PROM1):c.731G>T (p.Arg244Leu) rs369815021
NM_006017.3(PROM1):c.736A>G (p.Arg246Gly)
NM_006017.3(PROM1):c.750C>A (p.Ile250=) rs1047014321
NM_006017.3(PROM1):c.752C>T (p.Pro251Leu)
NM_006017.3(PROM1):c.754del (p.Val252fs) rs2149331785
NM_006017.3(PROM1):c.756T>A (p.Val252=) rs2149331758
NM_006017.3(PROM1):c.759T>C (p.Leu253=)
NM_006017.3(PROM1):c.768T>C (p.Ile256=)
NM_006017.3(PROM1):c.76A>G (p.Thr26Ala)
NM_006017.3(PROM1):c.770A>G (p.Lys257Arg)
NM_006017.3(PROM1):c.772T>A (p.Ser258Thr)
NM_006017.3(PROM1):c.781A>G (p.Thr261Ala)
NM_006017.3(PROM1):c.782C>T (p.Thr261Ile)
NM_006017.3(PROM1):c.784+1G>A rs745704627
NM_006017.3(PROM1):c.784+2T>C rs1578085426
NM_006017.3(PROM1):c.784+9T>C
NM_006017.3(PROM1):c.789C>A (p.Ile263=)
NM_006017.3(PROM1):c.813G>A (p.Glu271=)
NM_006017.3(PROM1):c.818T>A (p.Met273Lys) rs752090916
NM_006017.3(PROM1):c.835A>G (p.Ser279Gly) rs934667000
NM_006017.3(PROM1):c.83C>T (p.Ala28Val) rs200267954
NM_006017.3(PROM1):c.847C>A (p.Gln283Lys) rs1728983975
NM_006017.3(PROM1):c.859C>T (p.Leu287Phe)
NM_006017.3(PROM1):c.869del (p.Ser290fs) rs1355802816
NM_006017.3(PROM1):c.879C>A (p.Ser293Arg) rs148242593
NM_006017.3(PROM1):c.879C>T (p.Ser293=) rs148242593
NM_006017.3(PROM1):c.880G>A (p.Val294Met) rs777036344
NM_006017.3(PROM1):c.880G>C (p.Val294Leu)
NM_006017.3(PROM1):c.888T>A (p.Thr296=) rs2149304790
NM_006017.3(PROM1):c.891C>T (p.Ser297=) rs2149304749
NM_006017.3(PROM1):c.893T>A (p.Leu298Gln)
NM_006017.3(PROM1):c.906C>T (p.Leu302=) rs1578055879
NM_006017.3(PROM1):c.916C>T (p.Leu306=)
NM_006017.3(PROM1):c.918G>A (p.Leu306=)
NM_006017.3(PROM1):c.91G>C (p.Ala31Pro)
NM_006017.3(PROM1):c.921C>T (p.Cys307=) rs1578055689
NM_006017.3(PROM1):c.935C>T (p.Ser312Leu)
NM_006017.3(PROM1):c.937A>G (p.Ser313Gly)
NM_006017.3(PROM1):c.950A>G (p.Asn317Ser) rs1728947654
NM_006017.3(PROM1):c.958A>G (p.Arg320Gly) rs1043647793
NM_006017.3(PROM1):c.963G>A (p.Leu321=) rs202041422
NM_006017.3(PROM1):c.967C>T (p.Leu323=) rs2149303982
NM_006017.3(PROM1):c.96G>T (p.Trp32Cys) rs794726926
NM_006017.3(PROM1):c.971G>A (p.Ser324Asn) rs1728938088
NM_006017.3(PROM1):c.980A>G (p.Asn327Ser)
NM_006017.3(PROM1):c.981_987delinsCTGGCTTAGAG (p.Ser328fs) rs1578054973

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