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
|
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NM_006017.3(PROM1):c.630G>A (p.Glu210=)
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NM_006017.3(PROM1):c.631-10_631-8del
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NM_006017.3(PROM1):c.631-13G>T
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NM_006017.3(PROM1):c.631C>T (p.Gln211Ter)
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rs1730695660
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NM_006017.3(PROM1):c.642T>A (p.Tyr214Ter)
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rs368213921
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NM_006017.3(PROM1):c.642T>C (p.Tyr214=)
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rs368213921
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NM_006017.3(PROM1):c.649G>A (p.Ala217Thr)
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NM_006017.3(PROM1):c.65A>G (p.Gln22Arg)
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NM_006017.3(PROM1):c.660C>G (p.Asn220Lys)
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NM_006017.3(PROM1):c.663T>C (p.Thr221=)
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NM_006017.3(PROM1):c.671A>G (p.Asp224Gly)
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NM_006017.3(PROM1):c.673A>C (p.Lys225Gln)
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rs2149336811
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NM_006017.3(PROM1):c.694+20_694+21del
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rs2149336548
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NM_006017.3(PROM1):c.694+3G>T
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NM_006017.3(PROM1):c.694+81G>A
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rs17478336
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NM_006017.3(PROM1):c.695-10T>C
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NM_006017.3(PROM1):c.695-10T>G
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rs2149332361
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NM_006017.3(PROM1):c.695-11T>G
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rs2149332377
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NM_006017.3(PROM1):c.695-13T>C
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NM_006017.3(PROM1):c.695-16G>C
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rs779849808
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NM_006017.3(PROM1):c.695-6A>G
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rs898988422
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NM_006017.3(PROM1):c.695G>T (p.Ser232Ile)
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rs370143425
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NM_006017.3(PROM1):c.728A>C (p.Asp243Ala)
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rs766737247
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NM_006017.3(PROM1):c.731G>C (p.Arg244Pro)
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NM_006017.3(PROM1):c.731G>T (p.Arg244Leu)
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rs369815021
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NM_006017.3(PROM1):c.736A>G (p.Arg246Gly)
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NM_006017.3(PROM1):c.750C>A (p.Ile250=)
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rs1047014321
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NM_006017.3(PROM1):c.752C>T (p.Pro251Leu)
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NM_006017.3(PROM1):c.754del (p.Val252fs)
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rs2149331785
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NM_006017.3(PROM1):c.756T>A (p.Val252=)
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rs2149331758
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NM_006017.3(PROM1):c.759T>C (p.Leu253=)
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NM_006017.3(PROM1):c.768T>C (p.Ile256=)
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NM_006017.3(PROM1):c.76A>G (p.Thr26Ala)
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NM_006017.3(PROM1):c.770A>G (p.Lys257Arg)
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NM_006017.3(PROM1):c.772T>A (p.Ser258Thr)
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NM_006017.3(PROM1):c.781A>G (p.Thr261Ala)
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NM_006017.3(PROM1):c.782C>T (p.Thr261Ile)
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NM_006017.3(PROM1):c.784+1G>A
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rs745704627
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NM_006017.3(PROM1):c.784+2T>C
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rs1578085426
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NM_006017.3(PROM1):c.784+9T>C
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NM_006017.3(PROM1):c.789C>A (p.Ile263=)
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NM_006017.3(PROM1):c.813G>A (p.Glu271=)
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NM_006017.3(PROM1):c.818T>A (p.Met273Lys)
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rs752090916
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NM_006017.3(PROM1):c.835A>G (p.Ser279Gly)
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rs934667000
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NM_006017.3(PROM1):c.83C>T (p.Ala28Val)
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rs200267954
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|
NM_006017.3(PROM1):c.847C>A (p.Gln283Lys)
|
rs1728983975
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|
NM_006017.3(PROM1):c.859C>T (p.Leu287Phe)
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NM_006017.3(PROM1):c.869del (p.Ser290fs)
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rs1355802816
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NM_006017.3(PROM1):c.879C>A (p.Ser293Arg)
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rs148242593
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NM_006017.3(PROM1):c.879C>T (p.Ser293=)
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rs148242593
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|
NM_006017.3(PROM1):c.880G>A (p.Val294Met)
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rs777036344
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NM_006017.3(PROM1):c.880G>C (p.Val294Leu)
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|
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NM_006017.3(PROM1):c.888T>A (p.Thr296=)
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rs2149304790
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NM_006017.3(PROM1):c.891C>T (p.Ser297=)
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rs2149304749
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|
NM_006017.3(PROM1):c.893T>A (p.Leu298Gln)
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|
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NM_006017.3(PROM1):c.906C>T (p.Leu302=)
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rs1578055879
|
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NM_006017.3(PROM1):c.916C>T (p.Leu306=)
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NM_006017.3(PROM1):c.918G>A (p.Leu306=)
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NM_006017.3(PROM1):c.91G>C (p.Ala31Pro)
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|
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NM_006017.3(PROM1):c.921C>T (p.Cys307=)
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rs1578055689
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NM_006017.3(PROM1):c.935C>T (p.Ser312Leu)
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NM_006017.3(PROM1):c.937A>G (p.Ser313Gly)
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NM_006017.3(PROM1):c.950A>G (p.Asn317Ser)
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rs1728947654
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NM_006017.3(PROM1):c.958A>G (p.Arg320Gly)
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rs1043647793
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NM_006017.3(PROM1):c.963G>A (p.Leu321=)
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rs202041422
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NM_006017.3(PROM1):c.967C>T (p.Leu323=)
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rs2149303982
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NM_006017.3(PROM1):c.96G>T (p.Trp32Cys)
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rs794726926
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NM_006017.3(PROM1):c.971G>A (p.Ser324Asn)
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rs1728938088
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NM_006017.3(PROM1):c.980A>G (p.Asn327Ser)
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NM_006017.3(PROM1):c.981_987delinsCTGGCTTAGAG (p.Ser328fs)
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rs1578054973
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