NM_006017.3(PROM1):c.1768-5C>T
|
rs55708318
|
0.03551
|
NM_006017.3(PROM1):c.631-14T>C
|
rs16892824
|
0.01810
|
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.*684C>T
|
rs140362696
|
0.00496
|
NM_006017.3(PROM1):c.1497C>T (p.Ile499=)
|
rs113895168
|
0.00322
|
NM_006017.3(PROM1):c.1977C>T (p.Asn659=)
|
rs149028760
|
0.00222
|
NM_006017.3(PROM1):c.-25T>A
|
rs149845694
|
0.00194
|
NM_006017.3(PROM1):c.1579-6T>C
|
rs181261277
|
0.00190
|
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.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.1330C>T (p.Leu444=)
|
rs368868012
|
0.00028
|
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.1002+20C>T
|
rs374224088
|
0.00024
|
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.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.303+10T>G
|
rs181648802
|
0.00016
|
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.801A>G (p.Lys267=)
|
rs186293194
|
0.00014
|
NM_006017.3(PROM1):c.2472G>A (p.Ser824=)
|
rs372746499
|
0.00012
|
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.2485G>A (p.Asp829Asn)
|
rs146434364
|
0.00010
|
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.376G>A (p.Val126Met)
|
rs199556426
|
0.00009
|
NM_006017.3(PROM1):c.321A>C (p.Ala107=)
|
rs371975235
|
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.1683-14G>A
|
rs371857360
|
0.00006
|
NM_006017.3(PROM1):c.2085A>G (p.Leu695=)
|
rs773851520
|
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.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.2582+9A>C
|
rs200033458
|
0.00005
|
NM_006017.3(PROM1):c.540T>C (p.Asn180=)
|
rs1259492360
|
0.00005
|
NM_006017.3(PROM1):c.*1052G>A
|
rs577484119
|
0.00004
|
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.1195C>T (p.Arg399Cys)
|
rs770268627
|
0.00004
|
NM_006017.3(PROM1):c.1199T>C (p.Leu400Pro)
|
rs140682455
|
0.00004
|
NM_006017.3(PROM1):c.1407G>A (p.Pro469=)
|
rs763710252
|
0.00004
|
NM_006017.3(PROM1):c.1579-12A>C
|
rs370183490
|
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.784+14A>G
|
rs781143726
|
0.00004
|
NM_006017.3(PROM1):c.785-18C>T
|
rs375709922
|
0.00004
|
NM_006017.3(PROM1):c.1301+10T>A
|
rs192338518
|
0.00003
|
NM_006017.3(PROM1):c.1301+11C>A
|
rs189953160
|
0.00003
|
NM_006017.3(PROM1):c.177G>C (p.Val59=)
|
rs371957029
|
0.00003
|
NM_006017.3(PROM1):c.1926C>T (p.Pro642=)
|
rs765486588
|
0.00003
|
NM_006017.3(PROM1):c.2076+12C>T
|
rs200356026
|
0.00003
|
NM_006017.3(PROM1):c.2478C>T (p.Asp826=)
|
rs774262417
|
0.00003
|
NM_006017.3(PROM1):c.276+15G>T
|
rs766012920
|
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.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.1377C>T (p.Gly459=)
|
rs779072238
|
0.00002
|
NM_006017.3(PROM1):c.1468A>T (p.Ser490Cys)
|
rs536622788
|
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.2578A>G (p.Thr860Ala)
|
rs747844753
|
0.00002
|
NM_006017.3(PROM1):c.276+11A>G
|
rs1277587152
|
0.00002
|
NM_006017.3(PROM1):c.630+10A>G
|
rs376682773
|
0.00002
|
NM_006017.3(PROM1):c.792G>A (p.Lys264=)
|
rs776605111
|
0.00002
|
NM_006017.3(PROM1):c.876C>A (p.Thr292=)
|
rs373899516
|
0.00002
|
NM_006017.3(PROM1):c.1003-11T>C
|
rs1469558153
|
0.00001
|
NM_006017.3(PROM1):c.1042G>A (p.Val348Ile)
|
rs542468979
|
0.00001
|
NM_006017.3(PROM1):c.1078-16T>C
|
rs751300536
|
0.00001
|
NM_006017.3(PROM1):c.1182C>T (p.Asp394=)
|
rs769140245
|
0.00001
|
NM_006017.3(PROM1):c.1221A>G (p.Ser407=)
|
rs1382801591
|
0.00001
|
NM_006017.3(PROM1):c.1320C>T (p.Val440=)
|
rs765602610
|
0.00001
|
NM_006017.3(PROM1):c.1434C>T (p.Thr478=)
|
rs761939598
|
0.00001
|
NM_006017.3(PROM1):c.1560G>A (p.Thr520=)
|
rs775841074
|
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.1593C>T (p.Pro531=)
|
rs1722872127
|
0.00001
|
NM_006017.3(PROM1):c.165C>T (p.Leu55=)
|
rs1185502209
|
0.00001
|
NM_006017.3(PROM1):c.1710C>T (p.Tyr570=)
|
rs201644238
|
0.00001
|
NM_006017.3(PROM1):c.1722C>T (p.His574=)
|
rs769250596
|
0.00001
|
NM_006017.3(PROM1):c.1738A>C (p.Asn580His)
|
rs199674847
|
0.00001
|
NM_006017.3(PROM1):c.1768-16C>T
|
rs1405763627
|
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.1995T>C (p.Asn665=)
|
rs750885395
|
0.00001
|
NM_006017.3(PROM1):c.2076+17T>C
|
rs781437553
|
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.2151A>G (p.Leu717=)
|
rs561864815
|
0.00001
|
NM_006017.3(PROM1):c.220+7G>A
|
rs768718033
|
0.00001
|
NM_006017.3(PROM1):c.2281-10A>G
|
rs775407190
|
0.00001
|
NM_006017.3(PROM1):c.2309C>A (p.Pro770His)
|
rs568361529
|
0.00001
|
NM_006017.3(PROM1):c.2374-10T>G
|
rs1717565502
|
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.444G>A (p.Lys148=)
|
rs1190167770
|
0.00001
|
NM_006017.3(PROM1):c.585T>C (p.Asp195=)
|
rs1190746994
|
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.785-17G>A
|
rs574658646
|
0.00001
|
NM_006017.3(PROM1):c.9C>T (p.Leu3=)
|
rs781658379
|
0.00001
|
NM_006017.3(PROM1):c.*84del
|
rs112952685
|
|
NM_006017.3(PROM1):c.1002+12T>C
|
|
|
NM_006017.3(PROM1):c.1002+13G>C
|
|
|
NM_006017.3(PROM1):c.1005T>G (p.Leu335=)
|
|
|
NM_006017.3(PROM1):c.102T>C (p.Tyr34=)
|
|
|
NM_006017.3(PROM1):c.1044T>C (p.Val348=)
|
|
|
NM_006017.3(PROM1):c.1047T>C (p.Leu349=)
|
rs2149291357
|
|
NM_006017.3(PROM1):c.1071C>T (p.Val357=)
|
|
|
NM_006017.3(PROM1):c.1077+8T>G
|
|
|
NM_006017.3(PROM1):c.1078-20T>C
|
|
|
NM_006017.3(PROM1):c.108G>A (p.Leu36=)
|
rs1201865936
|
|
NM_006017.3(PROM1):c.1116A>G (p.Gln372=)
|
|
|
NM_006017.3(PROM1):c.111T>A (p.Pro37=)
|
rs2149586204
|
|
NM_006017.3(PROM1):c.1134C>T (p.Val378=)
|
|
|
NM_006017.3(PROM1):c.1141+11_1141+12del
|
rs775941560
|
|
NM_006017.3(PROM1):c.1142-14A>G
|
|
|
NM_006017.3(PROM1):c.11T>C (p.Val4Ala)
|
rs1743863519
|
|
NM_006017.3(PROM1):c.1209G>A (p.Gln403=)
|
|
|
NM_006017.3(PROM1):c.1218C>G (p.Leu406=)
|
rs886059203
|
|
NM_006017.3(PROM1):c.1260C>T (p.Ile420=)
|
|
|
NM_006017.3(PROM1):c.1263C>T (p.His421=)
|
rs2149249352
|
|
NM_006017.3(PROM1):c.1301+10_1301+11delinsAA
|
rs2149248888
|
|
NM_006017.3(PROM1):c.1301+11C>T
|
rs189953160
|
|
NM_006017.3(PROM1):c.1302-4C>T
|
rs2149236238
|
|
NM_006017.3(PROM1):c.1302-6C>T
|
rs372683691
|
|
NM_006017.3(PROM1):c.1315C>T (p.Leu439=)
|
|
|
NM_006017.3(PROM1):c.1333C>T (p.Leu445=)
|
|
|
NM_006017.3(PROM1):c.1341C>T (p.Leu447=)
|
|
|
NM_006017.3(PROM1):c.1344C>A (p.Ile448=)
|
rs147174580
|
|
NM_006017.3(PROM1):c.1383C>T (p.Cys461=)
|
|
|
NM_006017.3(PROM1):c.1386C>T (p.Gly462=)
|
rs756075405
|
|
NM_006017.3(PROM1):c.1392C>T (p.Asp464=)
|
rs1725562698
|
|
NM_006017.3(PROM1):c.1410C>A (p.Thr470=)
|
rs754115347
|
|
NM_006017.3(PROM1):c.1422T>C (p.Cys474=)
|
|
|
NM_006017.3(PROM1):c.1440C>T (p.Gly480=)
|
|
|
NM_006017.3(PROM1):c.1454+10T>C
|
|
|
NM_006017.3(PROM1):c.1455-20A>G
|
|
|
NM_006017.3(PROM1):c.1551A>G (p.Glu517=)
|
|
|
NM_006017.3(PROM1):c.1578+13T>C
|
rs2149186734
|
|
NM_006017.3(PROM1):c.1578+18C>T
|
|
|
NM_006017.3(PROM1):c.1579-16del
|
rs772922223
|
|
NM_006017.3(PROM1):c.1584G>A (p.Leu528=)
|
|
|
NM_006017.3(PROM1):c.158G>A (p.Gly53Asp)
|
rs755064227
|
|
NM_006017.3(PROM1):c.1596C>T (p.Tyr532=)
|
rs1560442112
|
|
NM_006017.3(PROM1):c.15C>G (p.Leu5=)
|
rs10033189
|
|
NM_006017.3(PROM1):c.1638A>G (p.Leu546=)
|
|
|
NM_006017.3(PROM1):c.1659G>A (p.Lys553=)
|
|
|
NM_006017.3(PROM1):c.1682+19T>C
|
|
|
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.1716T>C (p.Thr572=)
|
rs772552632
|
|
NM_006017.3(PROM1):c.1731C>T (p.Asn577=)
|
|
|
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+6T>G
|
|
|
NM_006017.3(PROM1):c.1768-4G>A
|
rs766013910
|
|
NM_006017.3(PROM1):c.1768-4G>T
|
rs766013910
|
|
NM_006017.3(PROM1):c.18C>A (p.Gly6=)
|
rs2149586818
|
|
NM_006017.3(PROM1):c.1911+18A>G
|
|
|
NM_006017.3(PROM1):c.1960C>T (p.Leu654=)
|
|
|
NM_006017.3(PROM1):c.1962A>G (p.Leu654=)
|
rs2149113246
|
|
NM_006017.3(PROM1):c.1983+14G>C
|
|
|
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.2028T>A (p.Thr676=)
|
rs1441995279
|
|
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.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.2077-14_2077-13del
|
|
|
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.2094C>A (p.Ser698Arg)
|
rs199727800
|
|
NM_006017.3(PROM1):c.2094C>T (p.Ser698=)
|
rs199727800
|
|
NM_006017.3(PROM1):c.2130+15dup
|
rs746459881
|
|
NM_006017.3(PROM1):c.2131-16_2131-15del
|
rs2149081198
|
|
NM_006017.3(PROM1):c.2136A>G (p.Arg712=)
|
rs2149081072
|
|
NM_006017.3(PROM1):c.216A>G (p.Pro72=)
|
|
|
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.221-11T>C
|
|
|
NM_006017.3(PROM1):c.221-16G>A
|
rs1203173727
|
|
NM_006017.3(PROM1):c.221-9T>C
|
|
|
NM_006017.3(PROM1):c.2212-4C>G
|
rs2149079096
|
|
NM_006017.3(PROM1):c.2238A>T (p.Ile746=)
|
rs2149078764
|
|
NM_006017.3(PROM1):c.2280+19A>G
|
rs1719199588
|
|
NM_006017.3(PROM1):c.2280+8G>A
|
rs2149078265
|
|
NM_006017.3(PROM1):c.2281-16G>A
|
rs763535090
|
|
NM_006017.3(PROM1):c.2281-6C>A
|
|
|
NM_006017.3(PROM1):c.2281-6C>T
|
|
|
NM_006017.3(PROM1):c.2281-8C>T
|
rs368862821
|
|
NM_006017.3(PROM1):c.22C>T (p.Leu8=)
|
|
|
NM_006017.3(PROM1):c.2301G>A (p.Ser767=)
|
|
|
NM_006017.3(PROM1):c.2325A>G (p.Leu775=)
|
|
|
NM_006017.3(PROM1):c.2374-13T>A
|
rs773542265
|
|
NM_006017.3(PROM1):c.2374-19_2374-17del
|
|
|
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.2374-8T>C
|
|
|
NM_006017.3(PROM1):c.2436G>A (p.Ala812=)
|
|
|
NM_006017.3(PROM1):c.2458C>G (p.Arg820Gly)
|
rs755446696
|
|
NM_006017.3(PROM1):c.2489+18C>T
|
|
|
NM_006017.3(PROM1):c.2489+20C>T
|
|
|
NM_006017.3(PROM1):c.2490-11G>A
|
rs1404233284
|
|
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.2513+11T>A
|
|
|
NM_006017.3(PROM1):c.2513+19A>G
|
rs1577792083
|
|
NM_006017.3(PROM1):c.2514-4A>G
|
rs1236769724
|
|
NM_006017.3(PROM1):c.2582+16G>A
|
|
|
NM_006017.3(PROM1):c.2582+8A>C
|
rs2149032095
|
|
NM_006017.3(PROM1):c.25T>C (p.Leu9=)
|
|
|
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.303+14C>A
|
|
|
NM_006017.3(PROM1):c.304-12_304-9del
|
|
|
NM_006017.3(PROM1):c.304-98_304-94dup
|
rs60492380
|
|
NM_006017.3(PROM1):c.333A>C (p.Leu111=)
|
rs182877482
|
|
NM_006017.3(PROM1):c.348G>A (p.Gly116=)
|
|
|
NM_006017.3(PROM1):c.349C>T (p.Leu117=)
|
rs2149382223
|
|
NM_006017.3(PROM1):c.381G>A (p.Gly127=)
|
|
|
NM_006017.3(PROM1):c.42C>T (p.Cys14=)
|
|
|
NM_006017.3(PROM1):c.471C>T (p.Cys157=)
|
|
|
NM_006017.3(PROM1):c.477A>G (p.Ala159=)
|
rs993866138
|
|
NM_006017.3(PROM1):c.509+10A>G
|
rs2149381092
|
|
NM_006017.3(PROM1):c.509+8C>T
|
rs1686890857
|
|
NM_006017.3(PROM1):c.509+9_509+10del
|
rs2149381107
|
|
NM_006017.3(PROM1):c.510-20C>T
|
rs1185523887
|
|
NM_006017.3(PROM1):c.510-20CT[2]
|
|
|
NM_006017.3(PROM1):c.600C>T (p.Asp200=)
|
|
|
NM_006017.3(PROM1):c.603G>A (p.Leu201=)
|
|
|
NM_006017.3(PROM1):c.613T>C (p.Leu205=)
|
rs1245668116
|
|
NM_006017.3(PROM1):c.630+16T>C
|
|
|
NM_006017.3(PROM1):c.630+8C>A
|
rs1730931644
|
|
NM_006017.3(PROM1):c.631-13G>T
|
|
|
NM_006017.3(PROM1):c.642T>C (p.Tyr214=)
|
rs368213921
|
|
NM_006017.3(PROM1):c.663T>C (p.Thr221=)
|
|
|
NM_006017.3(PROM1):c.694+20_694+21del
|
rs2149336548
|
|
NM_006017.3(PROM1):c.695-10T>C
|
|
|
NM_006017.3(PROM1):c.695-10T>G
|
rs2149332361
|
|
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.750C>A (p.Ile250=)
|
rs1047014321
|
|
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.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.888T>A (p.Thr296=)
|
rs2149304790
|
|
NM_006017.3(PROM1):c.891C>T (p.Ser297=)
|
rs2149304749
|
|
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.921C>T (p.Cys307=)
|
rs1578055689
|
|
NM_006017.3(PROM1):c.963G>A (p.Leu321=)
|
rs202041422
|
|
NM_006017.3(PROM1):c.967C>T (p.Leu323=)
|
rs2149303982
|
|