NM_003036.4(SKI):c.185C>G (p.Ala62Gly)
|
rs28384811
|
0.05253
|
NM_003036.4(SKI):c.99C>G (p.Gly33=)
|
rs200019352
|
0.01364
|
NM_003036.4(SKI):c.294C>T (p.Thr98=)
|
rs115746142
|
0.01188
|
NM_003036.4(SKI):c.456C>T (p.Arg152=)
|
rs149898447
|
0.00976
|
NM_003036.4(SKI):c.1211+11G>A
|
rs115186522
|
0.00934
|
NM_003036.4(SKI):c.1974C>T (p.Arg658=)
|
rs201895384
|
0.00623
|
NM_003036.4(SKI):c.1446G>A (p.Ala482=)
|
rs114345135
|
0.00570
|
NM_003036.4(SKI):c.1834C>T (p.Leu612=)
|
rs35833638
|
0.00418
|
NM_003036.4(SKI):c.1163C>T (p.Ala388Val)
|
rs75280988
|
0.00410
|
NM_003036.4(SKI):c.1410C>T (p.Pro470=)
|
rs150985728
|
0.00322
|
NM_003036.4(SKI):c.1527C>T (p.Ser509=)
|
rs111935632
|
0.00270
|
NM_003036.4(SKI):c.1211+19C>T
|
rs182600375
|
0.00178
|
NM_003036.4(SKI):c.2184G>C (p.Pro728=)
|
rs543584871
|
0.00167
|
NM_003036.4(SKI):c.1196C>T (p.Ala399Val)
|
rs141862996
|
0.00148
|
NM_003036.4(SKI):c.1338C>T (p.Leu446=)
|
rs148632347
|
0.00130
|
NM_003036.4(SKI):c.798C>T (p.Ala266=)
|
rs149642284
|
0.00097
|
NM_003036.4(SKI):c.1851G>A (p.Glu617=)
|
rs146789646
|
0.00091
|
NM_003036.4(SKI):c.216C>T (p.Pro72=)
|
rs756778048
|
0.00083
|
NM_003036.4(SKI):c.417C>T (p.Ile139=)
|
rs144874401
|
0.00076
|
NM_003036.4(SKI):c.1593T>C (p.Pro531=)
|
rs144279718
|
0.00065
|
NM_003036.4(SKI):c.1308C>T (p.Ala436=)
|
rs139034124
|
0.00064
|
NM_003036.4(SKI):c.1528G>A (p.Ala510Thr)
|
rs61735580
|
0.00056
|
NM_003036.4(SKI):c.1734C>T (p.Ser578=)
|
rs117443908
|
0.00046
|
NM_003036.4(SKI):c.1033G>A (p.Ala345Thr)
|
rs150934009
|
0.00035
|
NM_003036.4(SKI):c.516C>T (p.Pro172=)
|
rs182513685
|
0.00032
|
NM_003036.4(SKI):c.948G>A (p.Lys316=)
|
rs368128582
|
0.00032
|
NM_003036.4(SKI):c.312A>T (p.Val104=)
|
rs368195821
|
0.00029
|
NM_003036.4(SKI):c.1767+9G>C
|
rs181520853
|
0.00028
|
NM_003036.4(SKI):c.1302G>A (p.Pro434=)
|
rs111459205
|
0.00026
|
NM_003036.4(SKI):c.1384C>G (p.Pro462Ala)
|
rs199797772
|
0.00026
|
NM_003036.4(SKI):c.1321C>T (p.Arg441Trp)
|
rs201613746
|
0.00024
|
NM_003036.4(SKI):c.1474+15C>T
|
rs369979606
|
0.00023
|
NM_003036.4(SKI):c.2183C>T (p.Pro728Leu)
|
rs372950890
|
0.00023
|
NM_003036.4(SKI):c.2174A>C (p.Glu725Ala)
|
rs747798210
|
0.00019
|
NM_003036.4(SKI):c.1095+18G>A
|
rs748998967
|
0.00016
|
NM_003036.4(SKI):c.1440G>A (p.Ser480=)
|
rs185754530
|
0.00016
|
NM_003036.4(SKI):c.42C>T (p.His14=)
|
rs543603037
|
0.00016
|
NM_003036.4(SKI):c.799C>T (p.Leu267=)
|
rs140178396
|
0.00016
|
NM_003036.4(SKI):c.1254C>T (p.Asn418=)
|
rs536126761
|
0.00013
|
NM_003036.4(SKI):c.640A>G (p.Ser214Gly)
|
rs139179843
|
0.00013
|
NM_003036.4(SKI):c.1315G>A (p.Val439Ile)
|
rs575093513
|
0.00012
|
NM_003036.4(SKI):c.105G>A (p.Pro35=)
|
rs778180778
|
0.00011
|
NM_003036.4(SKI):c.1309G>A (p.Ala437Thr)
|
rs544709718
|
0.00011
|
NM_003036.4(SKI):c.1329C>T (p.Pro443=)
|
rs150033567
|
0.00011
|
NM_003036.4(SKI):c.1632C>T (p.His544=)
|
rs373914574
|
0.00011
|
NM_003036.4(SKI):c.970-5C>T
|
rs755318392
|
0.00011
|
NM_003036.4(SKI):c.2141G>A (p.Arg714His)
|
rs754486257
|
0.00010
|
NM_003036.4(SKI):c.1164G>A (p.Ala388=)
|
rs780171614
|
0.00009
|
NM_003036.4(SKI):c.1269G>A (p.Pro423=)
|
rs375600617
|
0.00009
|
NM_003036.4(SKI):c.1568C>T (p.Ser523Leu)
|
rs730880212
|
0.00009
|
NM_003036.4(SKI):c.897C>T (p.Arg299=)
|
rs773901705
|
0.00009
|
NM_003036.4(SKI):c.1109T>C (p.Val370Ala)
|
rs138088528
|
0.00008
|
NM_003036.4(SKI):c.170C>T (p.Ala57Val)
|
rs1389185868
|
0.00008
|
NM_003036.4(SKI):c.242C>A (p.Pro81Gln)
|
rs542659326
|
0.00008
|
NM_003036.4(SKI):c.1162G>A (p.Ala388Thr)
|
rs376736872
|
0.00006
|
NM_003036.4(SKI):c.1182C>T (p.Ser394=)
|
rs542616415
|
0.00006
|
NM_003036.4(SKI):c.1211+10C>T
|
rs200242660
|
0.00006
|
NM_003036.4(SKI):c.1271C>T (p.Pro424Leu)
|
rs764317955
|
0.00006
|
NM_003036.4(SKI):c.1710C>T (p.Arg570=)
|
rs766067033
|
0.00006
|
NM_003036.4(SKI):c.1923G>A (p.Leu641=)
|
rs199666240
|
0.00006
|
NM_003036.4(SKI):c.2056G>A (p.Ala686Thr)
|
rs756553942
|
0.00006
|
NM_003036.4(SKI):c.247C>T (p.Pro83Ser)
|
rs201590284
|
0.00006
|
NM_003036.4(SKI):c.360C>T (p.Arg120=)
|
rs375024753
|
0.00006
|
NM_003036.4(SKI):c.567G>C (p.Leu189=)
|
rs752411031
|
0.00006
|
NM_003036.4(SKI):c.1096-5G>A
|
rs566936949
|
0.00005
|
NM_003036.4(SKI):c.1212-15C>T
|
rs200904079
|
0.00005
|
NM_003036.4(SKI):c.1212-8C>T
|
rs370921440
|
0.00005
|
NM_003036.4(SKI):c.1242C>T (p.Ala414=)
|
rs757550300
|
0.00005
|
NM_003036.4(SKI):c.1263C>T (p.Leu421=)
|
rs773045410
|
0.00005
|
NM_003036.4(SKI):c.1636C>T (p.Arg546Trp)
|
rs774648274
|
0.00005
|
NM_003036.4(SKI):c.450C>T (p.Cys150=)
|
rs538703800
|
0.00005
|
NM_003036.4(SKI):c.994A>G (p.Ile332Val)
|
rs374264201
|
0.00005
|
NM_003036.4(SKI):c.1041C>T (p.Ser347=)
|
rs140745811
|
0.00004
|
NM_003036.4(SKI):c.1042G>A (p.Glu348Lys)
|
rs370217718
|
0.00004
|
NM_003036.4(SKI):c.1080C>T (p.Ala360=)
|
rs200557598
|
0.00004
|
NM_003036.4(SKI):c.1096-6C>T
|
rs201304370
|
0.00004
|
NM_003036.4(SKI):c.1258G>A (p.Ala420Thr)
|
rs771862077
|
0.00004
|
NM_003036.4(SKI):c.138C>T (p.Ala46=)
|
rs745527890
|
0.00004
|
NM_003036.4(SKI):c.1406C>T (p.Ala469Val)
|
rs746659856
|
0.00004
|
NM_003036.4(SKI):c.1456G>A (p.Val486Ile)
|
rs200717031
|
0.00004
|
NM_003036.4(SKI):c.1547C>T (p.Pro516Leu)
|
rs781193859
|
0.00004
|
NM_003036.4(SKI):c.1619C>T (p.Ala540Val)
|
rs764786977
|
0.00004
|
NM_003036.4(SKI):c.1711G>A (p.Val571Met)
|
rs190373826
|
0.00004
|
NM_003036.4(SKI):c.1767+12G>A
|
rs772577806
|
0.00004
|
NM_003036.4(SKI):c.1906C>T (p.Arg636Cys)
|
rs143354709
|
0.00004
|
NM_003036.4(SKI):c.227T>C (p.Leu76Pro)
|
rs753070477
|
0.00004
|
NM_003036.4(SKI):c.543C>T (p.Asp181=)
|
rs766957830
|
0.00004
|
NM_003036.4(SKI):c.696G>A (p.Leu232=)
|
rs748272908
|
0.00004
|
NM_003036.4(SKI):c.726C>T (p.Ala242=)
|
rs139227600
|
0.00004
|
NM_003036.4(SKI):c.978T>G (p.Ser326=)
|
rs759010691
|
0.00004
|
NM_003036.4(SKI):c.1000C>T (p.Pro334Ser)
|
rs775433131
|
0.00003
|
NM_003036.4(SKI):c.1187A>G (p.His396Arg)
|
rs987527805
|
0.00003
|
NM_003036.4(SKI):c.1272G>A (p.Pro424=)
|
rs552946737
|
0.00003
|
NM_003036.4(SKI):c.142A>C (p.Lys48Gln)
|
rs946543006
|
0.00003
|
NM_003036.4(SKI):c.1556G>A (p.Arg519His)
|
rs376322470
|
0.00003
|
NM_003036.4(SKI):c.1573G>A (p.Val525Ile)
|
rs141961299
|
0.00003
|
NM_003036.4(SKI):c.1637G>A (p.Arg546Gln)
|
rs748681103
|
0.00003
|
NM_003036.4(SKI):c.1767+11C>T
|
rs202132957
|
0.00003
|
NM_003036.4(SKI):c.1817C>T (p.Thr606Met)
|
rs753862105
|
0.00003
|
NM_003036.4(SKI):c.1866G>A (p.Glu622=)
|
rs748886393
|
0.00003
|
NM_003036.4(SKI):c.1877A>T (p.Lys626Met)
|
rs774106502
|
0.00003
|
NM_003036.4(SKI):c.1935G>T (p.Arg645=)
|
rs751933078
|
0.00003
|
NM_003036.4(SKI):c.1999-19C>T
|
rs1367620764
|
0.00003
|
NM_003036.4(SKI):c.2112G>A (p.Glu704=)
|
rs1034542455
|
0.00003
|
NM_003036.4(SKI):c.2154G>T (p.Ala718=)
|
rs778456446
|
0.00003
|
NM_003036.4(SKI):c.336C>T (p.Cys112=)
|
rs752031916
|
0.00003
|
NM_003036.4(SKI):c.393G>A (p.Leu131=)
|
rs748004059
|
0.00003
|
NM_003036.4(SKI):c.593C>T (p.Pro198Leu)
|
rs1371410513
|
0.00003
|
NM_003036.4(SKI):c.844C>A (p.Arg282=)
|
rs753783431
|
0.00003
|
NM_003036.4(SKI):c.878G>A (p.Gly293Asp)
|
rs756571135
|
0.00003
|
NM_003036.4(SKI):c.915C>G (p.Asp305Glu)
|
rs900879745
|
0.00003
|
NM_003036.4(SKI):c.964C>T (p.Pro322Ser)
|
rs779317743
|
0.00003
|
NM_003036.4(SKI):c.970-7A>G
|
rs199634070
|
0.00003
|
NM_003036.4(SKI):c.1034C>T (p.Ala345Val)
|
rs201599402
|
0.00002
|
NM_003036.4(SKI):c.1059C>T (p.Ser353=)
|
rs375991331
|
0.00002
|
NM_003036.4(SKI):c.1069C>T (p.Arg357Trp)
|
rs370418830
|
0.00002
|
NM_003036.4(SKI):c.1081G>A (p.Gly361Ser)
|
rs759663808
|
0.00002
|
NM_003036.4(SKI):c.1118G>A (p.Arg373His)
|
rs768924434
|
0.00002
|
NM_003036.4(SKI):c.1153G>A (p.Ala385Thr)
|
rs758235470
|
0.00002
|
NM_003036.4(SKI):c.1211+17C>T
|
rs753878221
|
0.00002
|
NM_003036.4(SKI):c.1264G>A (p.Ala422Thr)
|
rs760579911
|
0.00002
|
NM_003036.4(SKI):c.1268C>T (p.Pro423Leu)
|
rs752779978
|
0.00002
|
NM_003036.4(SKI):c.1336C>T (p.Leu446Phe)
|
rs1464178129
|
0.00002
|
NM_003036.4(SKI):c.1382C>T (p.Thr461Ile)
|
rs141464453
|
0.00002
|
NM_003036.4(SKI):c.1400C>T (p.Thr467Met)
|
rs752151031
|
0.00002
|
NM_003036.4(SKI):c.1480T>A (p.Ser494Thr)
|
rs781304969
|
0.00002
|
NM_003036.4(SKI):c.1553C>T (p.Ala518Val)
|
rs776056360
|
0.00002
|
NM_003036.4(SKI):c.1569G>A (p.Ser523=)
|
rs767052019
|
0.00002
|
NM_003036.4(SKI):c.1596C>T (p.Ala532=)
|
rs752673852
|
0.00002
|
NM_003036.4(SKI):c.1599C>T (p.Asp533=)
|
rs758323266
|
0.00002
|
NM_003036.4(SKI):c.1654G>A (p.Gly552Ser)
|
rs1010245755
|
0.00002
|
NM_003036.4(SKI):c.1708C>T (p.Arg570Cys)
|
rs377517039
|
0.00002
|
NM_003036.4(SKI):c.190G>A (p.Val64Met)
|
rs754036418
|
0.00002
|
NM_003036.4(SKI):c.1967C>T (p.Ala656Val)
|
rs571976990
|
0.00002
|
NM_003036.4(SKI):c.2013G>A (p.Gln671=)
|
rs1040803635
|
0.00002
|
NM_003036.4(SKI):c.209C>T (p.Pro70Leu)
|
rs994969301
|
0.00002
|
NM_003036.4(SKI):c.2165G>A (p.Gly722Asp)
|
rs1488554459
|
0.00002
|
NM_003036.4(SKI):c.625C>A (p.Leu209Met)
|
rs771298442
|
0.00002
|
NM_003036.4(SKI):c.762C>T (p.Tyr254=)
|
rs56352201
|
0.00002
|
NM_003036.4(SKI):c.892G>T (p.Ala298Ser)
|
rs769113221
|
0.00002
|
NM_003036.4(SKI):c.930A>G (p.Lys310=)
|
rs751629802
|
0.00002
|
NM_003036.4(SKI):c.938A>G (p.Tyr313Cys)
|
rs767730615
|
0.00002
|
NM_003036.4(SKI):c.975C>T (p.Ser325=)
|
rs753145672
|
0.00002
|
NM_003036.4(SKI):c.985C>T (p.Pro329Ser)
|
rs770539313
|
0.00002
|
NM_003036.4(SKI):c.1005A>G (p.Lys335=)
|
rs1057524639
|
0.00001
|
NM_003036.4(SKI):c.1006A>G (p.Thr336Ala)
|
rs1347876005
|
0.00001
|
NM_003036.4(SKI):c.1070G>A (p.Arg357Gln)
|
rs200874294
|
0.00001
|
NM_003036.4(SKI):c.1117C>T (p.Arg373Cys)
|
rs749507746
|
0.00001
|
NM_003036.4(SKI):c.1152C>T (p.Pro384=)
|
rs200160702
|
0.00001
|
NM_003036.4(SKI):c.116C>T (p.Ser39Leu)
|
rs746485528
|
0.00001
|
NM_003036.4(SKI):c.1188C>T (p.His396=)
|
rs998931386
|
0.00001
|
NM_003036.4(SKI):c.1193C>T (p.Pro398Leu)
|
rs776248526
|
0.00001
|
NM_003036.4(SKI):c.1212-13C>G
|
rs754988590
|
0.00001
|
NM_003036.4(SKI):c.1243G>A (p.Val415Met)
|
rs770481744
|
0.00001
|
NM_003036.4(SKI):c.1247C>T (p.Ala416Val)
|
rs775044622
|
0.00001
|
NM_003036.4(SKI):c.1294A>G (p.Ser432Gly)
|
rs368739670
|
0.00001
|
NM_003036.4(SKI):c.129G>A (p.Ala43=)
|
rs1313492083
|
0.00001
|
NM_003036.4(SKI):c.1301C>T (p.Pro434Leu)
|
rs768068601
|
0.00001
|
NM_003036.4(SKI):c.1314C>T (p.Ala438=)
|
rs554715623
|
0.00001
|
NM_003036.4(SKI):c.1317C>T (p.Val439=)
|
rs1446526482
|
0.00001
|
NM_003036.4(SKI):c.1330G>A (p.Glu444Lys)
|
rs747693633
|
0.00001
|
NM_003036.4(SKI):c.1339G>A (p.Ala447Thr)
|
rs1325458157
|
0.00001
|
NM_003036.4(SKI):c.1411G>T (p.Val471Leu)
|
rs745717087
|
0.00001
|
NM_003036.4(SKI):c.1417G>A (p.Ala473Thr)
|
rs371772366
|
0.00001
|
NM_003036.4(SKI):c.1420C>G (p.Pro474Ala)
|
rs1057518494
|
0.00001
|
NM_003036.4(SKI):c.1422A>T (p.Pro474=)
|
rs772286488
|
0.00001
|
NM_003036.4(SKI):c.1428G>C (p.Glu476Asp)
|
rs776816870
|
0.00001
|
NM_003036.4(SKI):c.1474+4C>T
|
rs780930093
|
0.00001
|
NM_003036.4(SKI):c.1474+8T>A
|
rs1249714928
|
0.00001
|
NM_003036.4(SKI):c.1475-5C>T
|
rs1640509294
|
0.00001
|
NM_003036.4(SKI):c.1476C>T (p.Phe492=)
|
rs1006090345
|
0.00001
|
NM_003036.4(SKI):c.1485C>T (p.Ser495=)
|
rs964817956
|
0.00001
|
NM_003036.4(SKI):c.149A>T (p.Glu50Val)
|
rs1158589836
|
0.00001
|
NM_003036.4(SKI):c.1505C>T (p.Pro502Leu)
|
rs1057520161
|
0.00001
|
NM_003036.4(SKI):c.1506G>A (p.Pro502=)
|
rs975738197
|
0.00001
|
NM_003036.4(SKI):c.1521C>T (p.Ser507=)
|
rs1430227962
|
0.00001
|
NM_003036.4(SKI):c.1530C>T (p.Ala510=)
|
rs1216089588
|
0.00001
|
NM_003036.4(SKI):c.1548G>A (p.Pro516=)
|
rs1239990628
|
0.00001
|
NM_003036.4(SKI):c.1554G>A (p.Ala518=)
|
rs770050757
|
0.00001
|
NM_003036.4(SKI):c.1562T>C (p.Leu521Pro)
|
rs1161295504
|
0.00001
|
NM_003036.4(SKI):c.1572C>T (p.Ala524=)
|
rs1285131836
|
0.00001
|
NM_003036.4(SKI):c.1620G>A (p.Ala540=)
|
rs529842293
|
0.00001
|
NM_003036.4(SKI):c.163G>C (p.Ala55Pro)
|
rs769506718
|
0.00001
|
NM_003036.4(SKI):c.1700T>C (p.Val567Ala)
|
rs887731777
|
0.00001
|
NM_003036.4(SKI):c.1735G>A (p.Ala579Thr)
|
rs370558210
|
0.00001
|
NM_003036.4(SKI):c.1739C>T (p.Ala580Val)
|
rs1397350089
|
0.00001
|
NM_003036.4(SKI):c.173C>G (p.Ala58Gly)
|
rs1638564960
|
0.00001
|
NM_003036.4(SKI):c.1767+6C>T
|
rs780191562
|
0.00001
|
NM_003036.4(SKI):c.1767+7G>A
|
rs199962561
|
0.00001
|
NM_003036.4(SKI):c.1768-4C>T
|
rs200246585
|
0.00001
|
NM_003036.4(SKI):c.1795A>G (p.Lys599Glu)
|
rs761706108
|
0.00001
|
NM_003036.4(SKI):c.1797G>A (p.Lys599=)
|
rs767488534
|
0.00001
|
NM_003036.4(SKI):c.1833C>T (p.Asn611=)
|
rs1557853907
|
0.00001
|
NM_003036.4(SKI):c.1860C>T (p.Arg620=)
|
rs1002513362
|
0.00001
|
NM_003036.4(SKI):c.1878G>A (p.Lys626=)
|
rs761614569
|
0.00001
|
NM_003036.4(SKI):c.1914G>A (p.Lys638=)
|
rs752864137
|
0.00001
|
NM_003036.4(SKI):c.1998+9G>A
|
rs533071160
|
0.00001
|
NM_003036.4(SKI):c.1999-11C>T
|
rs1022360604
|
0.00001
|
NM_003036.4(SKI):c.1999-18C>T
|
rs762184119
|
0.00001
|
NM_003036.4(SKI):c.1999-9C>T
|
rs369496789
|
0.00001
|
NM_003036.4(SKI):c.2014G>A (p.Val672Met)
|
rs1339249855
|
0.00001
|
NM_003036.4(SKI):c.2026C>T (p.His676Tyr)
|
rs1376096484
|
0.00001
|
NM_003036.4(SKI):c.2029G>A (p.Ala677Thr)
|
rs1254335229
|
0.00001
|
NM_003036.4(SKI):c.2040C>G (p.Asp680Glu)
|
rs557791923
|
0.00001
|
NM_003036.4(SKI):c.2052G>T (p.Leu684=)
|
rs1271020892
|
0.00001
|
NM_003036.4(SKI):c.2057C>A (p.Ala686Asp)
|
rs1216955747
|
0.00001
|
NM_003036.4(SKI):c.2058C>T (p.Ala686=)
|
rs1171554207
|
0.00001
|
NM_003036.4(SKI):c.2074C>T (p.Arg692Cys)
|
rs1341756519
|
0.00001
|
NM_003036.4(SKI):c.2084G>A (p.Arg695Gln)
|
rs1038419071
|
0.00001
|
NM_003036.4(SKI):c.2092C>T (p.Leu698=)
|
rs766929334
|
0.00001
|
NM_003036.4(SKI):c.2128T>C (p.Trp710Arg)
|
rs863223728
|
0.00001
|
NM_003036.4(SKI):c.2133G>A (p.Pro711=)
|
rs1640594973
|
0.00001
|
NM_003036.4(SKI):c.2138C>T (p.Ala713Val)
|
rs1160688025
|
0.00001
|
NM_003036.4(SKI):c.2154G>A (p.Ala718=)
|
rs778456446
|
0.00001
|
NM_003036.4(SKI):c.2168C>A (p.Ala723Asp)
|
rs1264586139
|
0.00001
|
NM_003036.4(SKI):c.2171C>T (p.Ala724Val)
|
rs1553201577
|
0.00001
|
NM_003036.4(SKI):c.2172G>A (p.Ala724=)
|
rs879070309
|
0.00001
|
NM_003036.4(SKI):c.2175G>C (p.Glu725Asp)
|
rs1381348497
|
0.00001
|
NM_003036.4(SKI):c.235A>G (p.Ile79Val)
|
rs1638568678
|
0.00001
|
NM_003036.4(SKI):c.258G>C (p.Leu86=)
|
rs780679449
|
0.00001
|
NM_003036.4(SKI):c.300C>T (p.Arg100=)
|
rs1286311989
|
0.00001
|
NM_003036.4(SKI):c.324G>A (p.Glu108=)
|
rs201144990
|
0.00001
|
NM_003036.4(SKI):c.330C>T (p.Ile110=)
|
rs764373577
|
0.00001
|
NM_003036.4(SKI):c.340G>A (p.Val114Met)
|
rs1165144413
|
0.00001
|
NM_003036.4(SKI):c.405G>T (p.Ser135=)
|
rs769774481
|
0.00001
|
NM_003036.4(SKI):c.435G>C (p.Glu145Asp)
|
rs1221007732
|
0.00001
|
NM_003036.4(SKI):c.438C>T (p.Leu146=)
|
rs371061756
|
0.00001
|
NM_003036.4(SKI):c.45G>A (p.Pro15=)
|
rs762947696
|
0.00001
|
NM_003036.4(SKI):c.461C>T (p.Thr154Met)
|
rs1275592565
|
0.00001
|
NM_003036.4(SKI):c.464C>G (p.Ala155Gly)
|
rs559020511
|
0.00001
|
NM_003036.4(SKI):c.471G>A (p.Gln157=)
|
rs569206617
|
0.00001
|
NM_003036.4(SKI):c.480C>T (p.Ile160=)
|
rs952491836
|
0.00001
|
NM_003036.4(SKI):c.495C>T (p.Gly165=)
|
rs749438586
|
0.00001
|
NM_003036.4(SKI):c.498C>T (p.Ile166=)
|
rs768733290
|
0.00001
|
NM_003036.4(SKI):c.504C>T (p.Pro168=)
|
rs774588048
|
0.00001
|
NM_003036.4(SKI):c.553C>T (p.Leu185=)
|
rs753251990
|
0.00001
|
NM_003036.4(SKI):c.562G>A (p.Ala188Thr)
|
rs377092419
|
0.00001
|
NM_003036.4(SKI):c.611C>T (p.Ala204Val)
|
rs772336192
|
0.00001
|
NM_003036.4(SKI):c.648C>G (p.Arg216=)
|
rs1398417113
|
0.00001
|
NM_003036.4(SKI):c.663C>T (p.Tyr221=)
|
rs762684190
|
0.00001
|
NM_003036.4(SKI):c.691C>T (p.Leu231=)
|
rs1191109372
|
0.00001
|
NM_003036.4(SKI):c.699G>T (p.Val233=)
|
rs1174147537
|
0.00001
|
NM_003036.4(SKI):c.702C>G (p.Pro234=)
|
rs1057523205
|
0.00001
|
NM_003036.4(SKI):c.72C>T (p.Phe24=)
|
rs953342598
|
0.00001
|
NM_003036.4(SKI):c.75C>T (p.His25=)
|
rs1486448334
|
0.00001
|
NM_003036.4(SKI):c.795G>C (p.Lys265Asn)
|
rs1457407953
|
0.00001
|
NM_003036.4(SKI):c.81C>T (p.Ser27=)
|
rs755325222
|
0.00001
|
NM_003036.4(SKI):c.900C>A (p.Leu300=)
|
rs747649658
|
0.00001
|
NM_003036.4(SKI):c.906C>T (p.Arg302=)
|
rs772758586
|
0.00001
|
NM_003036.4(SKI):c.918C>T (p.Asp306=)
|
rs776475482
|
0.00001
|
NM_003036.4(SKI):c.919G>A (p.Val307Met)
|
rs775192483
|
0.00001
|
NM_003036.4(SKI):c.923A>G (p.Lys308Arg)
|
rs1276404635
|
0.00001
|
NM_003036.4(SKI):c.925G>A (p.Glu309Lys)
|
rs1553190080
|
0.00001
|
NM_003036.4(SKI):c.942C>T (p.Gly314=)
|
rs1245622958
|
0.00001
|
NM_003036.4(SKI):c.970-10T>C
|
rs750601690
|
0.00001
|
NM_003036.4(SKI):c.970-11A>G
|
rs1640462475
|
0.00001
|
NM_003036.4(SKI):c.974C>T (p.Ser325Phe)
|
rs779414606
|
0.00001
|
NM_003036.4(SKI):c.986C>T (p.Pro329Leu)
|
rs1407167491
|
0.00001
|
NC_000001.10:g.(?_2234397)_(2238204_?)dup
|
|
|
NM_003036.4(SKI):c.100G>A (p.Gly34Ser)
|
rs387907306
|
|
NM_003036.4(SKI):c.100G>T (p.Gly34Cys)
|
rs387907306
|
|
NM_003036.4(SKI):c.1015A>G (p.Thr339Ala)
|
|
|
NM_003036.4(SKI):c.1019C>T (p.Ser340Phe)
|
rs557788926
|
|
NM_003036.4(SKI):c.101G>A (p.Gly34Asp)
|
rs387907305
|
|
NM_003036.4(SKI):c.101G>T (p.Gly34Val)
|
rs387907305
|
|
NM_003036.4(SKI):c.1025A>T (p.Gln342Leu)
|
rs377336741
|
|
NM_003036.4(SKI):c.1030C>T (p.Pro344Ser)
|
|
|
NM_003036.4(SKI):c.1035G>A (p.Ala345=)
|
|
|
NM_003036.4(SKI):c.103C>G (p.Pro35Ala)
|
|
|
NM_003036.4(SKI):c.103C>T (p.Pro35Ser)
|
rs397514590
|
|
NM_003036.4(SKI):c.1041C>G (p.Ser347=)
|
|
|
NM_003036.4(SKI):c.1043A>C (p.Glu348Ala)
|
|
|
NM_003036.4(SKI):c.104C>A (p.Pro35Gln)
|
rs397514589
|
|
NM_003036.4(SKI):c.104C>G (p.Pro35Arg)
|
rs397514589
|
|
NM_003036.4(SKI):c.1054C>A (p.Pro352Thr)
|
rs755862763
|
|
NM_003036.4(SKI):c.1055C>T (p.Pro352Leu)
|
|
|
NM_003036.4(SKI):c.1056G>A (p.Pro352=)
|
|
|
NM_003036.4(SKI):c.1057T>C (p.Ser353Pro)
|
|
|
NM_003036.4(SKI):c.1061G>T (p.Ser354Ile)
|
|
|
NM_003036.4(SKI):c.1067T>A (p.Leu356Gln)
|
rs1640467596
|
|
NM_003036.4(SKI):c.1068G>T (p.Leu356=)
|
rs1057523408
|
|
NM_003036.4(SKI):c.106G>C (p.Ala36Pro)
|
rs2100789569
|
|
NM_003036.4(SKI):c.1076T>C (p.Leu359Ser)
|
|
|
NM_003036.4(SKI):c.1087T>A (p.Ser363Thr)
|
|
|
NM_003036.4(SKI):c.1091A>T (p.Asn364Ile)
|
rs763338270
|
|
NM_003036.4(SKI):c.1095+10G>A
|
|
|
NM_003036.4(SKI):c.1095+11G>A
|
|
|
NM_003036.4(SKI):c.1095+17C>T
|
|
|
NM_003036.4(SKI):c.1095+20G>T
|
|
|
NM_003036.4(SKI):c.1095+5T>C
|
rs2100916508
|
|
NM_003036.4(SKI):c.1095+6G>A
|
|
|
NM_003036.4(SKI):c.1095G>A (p.Lys365=)
|
|
|
NM_003036.4(SKI):c.1096-15A>G
|
|
|
NM_003036.4(SKI):c.1096-6C>G
|
|
|
NM_003036.4(SKI):c.1096-8C>G
|
|
|
NM_003036.4(SKI):c.1096A>C (p.Ser366Arg)
|
rs1269741981
|
|
NM_003036.4(SKI):c.10G>C (p.Ala4Pro)
|
rs1638560343
|
|
NM_003036.4(SKI):c.1101G>T (p.Leu367=)
|
rs1411024116
|
|
NM_003036.4(SKI):c.1104C>T (p.Gly368=)
|
|
|
NM_003036.4(SKI):c.1114C>T (p.Pro372Ser)
|
|
|
NM_003036.4(SKI):c.1117C>G (p.Arg373Gly)
|
rs749507746
|
|
NM_003036.4(SKI):c.111T>C (p.Ala37=)
|
rs2100789581
|
|
NM_003036.4(SKI):c.1123C>T (p.Arg375Cys)
|
rs1038237858
|
|
NM_003036.4(SKI):c.1125C>A (p.Arg375=)
|
|
|
NM_003036.4(SKI):c.1126C>T (p.Leu376Phe)
|
|
|
NM_003036.4(SKI):c.1128C>A (p.Leu376=)
|
|
|
NM_003036.4(SKI):c.1149C>G (p.Ser383=)
|
|
|
NM_003036.4(SKI):c.1150C>T (p.Pro384Ser)
|
rs1242691039
|
|
NM_003036.4(SKI):c.1152C>G (p.Pro384=)
|
rs200160702
|
|
NM_003036.4(SKI):c.1166G>T (p.Ser389Ile)
|
|
|
NM_003036.4(SKI):c.1177C>T (p.Leu393Phe)
|
|
|
NM_003036.4(SKI):c.117G>C (p.Ser39=)
|
|
|
NM_003036.4(SKI):c.1185A>G (p.Pro395=)
|
|
|
NM_003036.4(SKI):c.1189C>T (p.Leu397Phe)
|
rs371268096
|
|
NM_003036.4(SKI):c.1192C>T (p.Pro398Ser)
|
rs1640476669
|
|
NM_003036.4(SKI):c.1194G>A (p.Pro398=)
|
|
|
NM_003036.4(SKI):c.11C>T (p.Ala4Val)
|
rs1085307767
|
|
NM_003036.4(SKI):c.1205G>A (p.Arg402Gln)
|
rs557289756
|
|
NM_003036.4(SKI):c.1208A>C (p.Asp403Ala)
|
|
|
NM_003036.4(SKI):c.1211+2T>G
|
|
|
NM_003036.4(SKI):c.1211+8G>C
|
rs1411361590
|
|
NM_003036.4(SKI):c.1211+9G>T
|
|
|
NM_003036.4(SKI):c.1212-16C>T
|
|
|
NM_003036.4(SKI):c.1212-3C>T
|
|
|
NM_003036.4(SKI):c.1212-6C>T
|
rs752765206
|
|
NM_003036.4(SKI):c.1212-7C>T
|
|
|
NM_003036.4(SKI):c.1215C>G (p.Phe405Leu)
|
rs2100918174
|
|
NM_003036.4(SKI):c.1230C>T (p.Ser410=)
|
|
|
NM_003036.4(SKI):c.123C>G (p.Arg41=)
|
rs1233566903
|
|
NM_003036.4(SKI):c.123C>T (p.Arg41=)
|
|
|
NM_003036.4(SKI):c.1240G>T (p.Ala414Ser)
|
|
|
NM_003036.4(SKI):c.1248G>A (p.Ala416=)
|
rs768317594
|
|
NM_003036.4(SKI):c.1248G>T (p.Ala416=)
|
|
|
NM_003036.4(SKI):c.1255G>A (p.Val419Met)
|
|
|
NM_003036.4(SKI):c.1293C>T (p.Ser431=)
|
rs2100918389
|
|
NM_003036.4(SKI):c.1298C>G (p.Pro433Arg)
|
|
|
NM_003036.4(SKI):c.1298C>T (p.Pro433Leu)
|
rs748787050
|
|
NM_003036.4(SKI):c.1298del (p.Pro433fs)
|
|
|
NM_003036.4(SKI):c.1306G>A (p.Ala436Thr)
|
rs1247637685
|
|
NM_003036.4(SKI):c.1307C>T (p.Ala436Val)
|
|
|
NM_003036.4(SKI):c.1308C>A (p.Ala436=)
|
|
|
NM_003036.4(SKI):c.1308C>G (p.Ala436=)
|
rs139034124
|
|
NM_003036.4(SKI):c.1311C>G (p.Ala437=)
|
rs140889128
|
|
NM_003036.4(SKI):c.1311C>T (p.Ala437=)
|
rs140889128
|
|
NM_003036.4(SKI):c.1315G>T (p.Val439Phe)
|
rs575093513
|
|
NM_003036.4(SKI):c.1322G>A (p.Arg441Gln)
|
|
|
NM_003036.4(SKI):c.1325C>T (p.Ala442Val)
|
|
|
NM_003036.4(SKI):c.1326C>T (p.Ala442=)
|
|
|
NM_003036.4(SKI):c.1327C>G (p.Pro443Ala)
|
rs1569860183
|
|
NM_003036.4(SKI):c.1328C>T (p.Pro443Leu)
|
rs1640493986
|
|
NM_003036.4(SKI):c.1346G>C (p.Cys449Ser)
|
rs2100918643
|
|
NM_003036.4(SKI):c.1350C>T (p.Thr450=)
|
|
|
NM_003036.4(SKI):c.1354C>A (p.Pro452Thr)
|
rs1417738788
|
|
NM_003036.4(SKI):c.1363C>T (p.Arg455Trp)
|
rs1640495570
|
|
NM_003036.4(SKI):c.1376T>G (p.Val459Gly)
|
|
|
NM_003036.4(SKI):c.137C>T (p.Ala46Val)
|
|
|
NM_003036.4(SKI):c.1388G>A (p.Gly463Glu)
|
rs1640496768
|
|
NM_003036.4(SKI):c.138C>G (p.Ala46=)
|
rs745527890
|
|
NM_003036.4(SKI):c.1391C>T (p.Ala464Val)
|
|
|
NM_003036.4(SKI):c.1394C>T (p.Pro465Leu)
|
|
|
NM_003036.4(SKI):c.139T>G (p.Tyr47Asp)
|
|
|
NM_003036.4(SKI):c.1408C>T (p.Pro470Ser)
|
|
|
NM_003036.4(SKI):c.1410C>A (p.Pro470=)
|
|
|
NM_003036.4(SKI):c.1411G>A (p.Val471Met)
|
rs745717087
|
|
NM_003036.4(SKI):c.1415C>T (p.Ala472Val)
|
|
|
NM_003036.4(SKI):c.1418C>T (p.Ala473Val)
|
rs1198385228
|
|
NM_003036.4(SKI):c.1419C>T (p.Ala473=)
|
rs748183781
|
|
NM_003036.4(SKI):c.1434G>C (p.Lys478Asn)
|
|
|
NM_003036.4(SKI):c.1439CGGAGG[1] (p.Ala482_Glu483del)
|
rs762410895
|
|
NM_003036.4(SKI):c.1449G>A (p.Glu483=)
|
|
|
NM_003036.4(SKI):c.144G>A (p.Lys48=)
|
|
|
NM_003036.4(SKI):c.1469A>G (p.Glu490Gly)
|
|
|
NM_003036.4(SKI):c.1474+14G>A
|
rs780072344
|
|
NM_003036.4(SKI):c.1474+19C>G
|
rs2100919153
|
|
NM_003036.4(SKI):c.1474+7del
|
rs1640502180
|
|
NM_003036.4(SKI):c.1474+8_1474+9del
|
|
|
NM_003036.4(SKI):c.1475-17C>T
|
|
|
NM_003036.4(SKI):c.1475T>C (p.Phe492Ser)
|
|
|
NM_003036.4(SKI):c.1477A>T (p.Thr493Ser)
|
|
|
NM_003036.4(SKI):c.1478CCT[2] (p.Ser495del)
|
|
|
NM_003036.4(SKI):c.1479C>T (p.Thr493=)
|
rs754922214
|
|
NM_003036.4(SKI):c.1482C>T (p.Ser494=)
|
|
|
NM_003036.4(SKI):c.1485_1487del (p.Leu496del)
|
rs1640510054
|
|
NM_003036.4(SKI):c.1488G>C (p.Leu496Phe)
|
|
|
NM_003036.4(SKI):c.1493C>T (p.Ser498Leu)
|
|
|
NM_003036.4(SKI):c.1505C>G (p.Pro502Arg)
|
|
|
NM_003036.4(SKI):c.1512T>G (p.Phe504Leu)
|
|
|
NM_003036.4(SKI):c.1514C>T (p.Thr505Ile)
|
|
|
NM_003036.4(SKI):c.1528G>T (p.Ala510Ser)
|
|
|
NM_003036.4(SKI):c.1539G>T (p.Leu513=)
|
|
|
NM_003036.4(SKI):c.1555C>T (p.Arg519Cys)
|
rs775800782
|
|
NM_003036.4(SKI):c.1556G>T (p.Arg519Leu)
|
rs376322470
|
|
NM_003036.4(SKI):c.1564C>T (p.Pro522Ser)
|
rs774937962
|
|
NM_003036.4(SKI):c.1566C>G (p.Pro522=)
|
|
|
NM_003036.4(SKI):c.1567T>G (p.Ser523Ala)
|
|
|
NM_003036.4(SKI):c.1569G>C (p.Ser523=)
|
rs767052019
|
|
NM_003036.4(SKI):c.157A>C (p.Lys53Gln)
|
|
|
NM_003036.4(SKI):c.1581TGC[1] (p.Ala530del)
|
rs863223725
|
|
NM_003036.4(SKI):c.1582G>C (p.Ala528Pro)
|
|
|
NM_003036.4(SKI):c.1582G>T (p.Ala528Ser)
|
|
|
NM_003036.4(SKI):c.1587G>C (p.Ala529=)
|
rs542301067
|
|
NM_003036.4(SKI):c.1589C>T (p.Ala530Val)
|
|
|
NM_003036.4(SKI):c.1592C>T (p.Pro531Leu)
|
|
|
NM_003036.4(SKI):c.1601C>T (p.Ala534Val)
|
|
|
NM_003036.4(SKI):c.160G>A (p.Glu54Lys)
|
|
|
NM_003036.4(SKI):c.1637G>T (p.Arg546Leu)
|
|
|
NM_003036.4(SKI):c.163G>A (p.Ala55Thr)
|
rs769506718
|
|
NM_003036.4(SKI):c.1642G>T (p.Ala548Ser)
|
rs1434790266
|
|
NM_003036.4(SKI):c.1647G>C (p.Leu549=)
|
|
|
NM_003036.4(SKI):c.164C>T (p.Ala55Val)
|
|
|
NM_003036.4(SKI):c.1651G>T (p.Gly551Cys)
|
rs1225179301
|
|
NM_003036.4(SKI):c.1653C>T (p.Gly551=)
|
|
|
NM_003036.4(SKI):c.1654G>C (p.Gly552Arg)
|
|
|
NM_003036.4(SKI):c.1677A>G (p.Lys559=)
|
rs1569862103
|
|
NM_003036.4(SKI):c.1686C>T (p.Phe562=)
|
|
|
NM_003036.4(SKI):c.1690C>G (p.His564Asp)
|
rs1640518223
|
|
NM_003036.4(SKI):c.1706T>C (p.Met569Thr)
|
|
|
NM_003036.4(SKI):c.1710C>A (p.Arg570=)
|
|
|
NM_003036.4(SKI):c.1715A>G (p.Lys572Arg)
|
|
|
NM_003036.4(SKI):c.1726A>C (p.Lys576Gln)
|
|
|
NM_003036.4(SKI):c.1728G>A (p.Lys576=)
|
|
|
NM_003036.4(SKI):c.1738G>A (p.Ala580Thr)
|
rs1640519904
|
|
NM_003036.4(SKI):c.173_178dup (p.Ala59_Val60insAlaAla)
|
|
|
NM_003036.4(SKI):c.1741C>G (p.Leu581Val)
|
|
|
NM_003036.4(SKI):c.1751A>G (p.Lys584Arg)
|
rs1569862379
|
|
NM_003036.4(SKI):c.1754G>A (p.Arg585His)
|
rs1251950898
|
|
NM_003036.4(SKI):c.1767+1G>C
|
|
|
NM_003036.4(SKI):c.1767+8G>A
|
rs755258323
|
|
NM_003036.4(SKI):c.1768-20G>T
|
rs375518657
|
|
NM_003036.4(SKI):c.1768-3C>T
|
|
|
NM_003036.4(SKI):c.1768-4C>G
|
|
|
NM_003036.4(SKI):c.1768-8G>T
|
|
|
NM_003036.4(SKI):c.1774G>C (p.Glu592Gln)
|
rs1569865485
|
|
NM_003036.4(SKI):c.1775_1789del (p.Glu592_Val596del)
|
rs1640564388
|
|
NM_003036.4(SKI):c.1784G>T (p.Arg595Leu)
|
|
|
NM_003036.4(SKI):c.1785C>G (p.Arg595=)
|
|
|
NM_003036.4(SKI):c.1786G>T (p.Val596Leu)
|
rs774196267
|
|
NM_003036.4(SKI):c.178G>C (p.Val60Leu)
|
|
|
NM_003036.4(SKI):c.1807C>T (p.Arg603Trp)
|
rs1640565489
|
|
NM_003036.4(SKI):c.1818G>A (p.Thr606=)
|
rs377110260
|
|
NM_003036.4(SKI):c.1827G>A (p.Lys609=)
|
rs1324710541
|
|
NM_003036.4(SKI):c.1828C>T (p.Arg610Cys)
|
rs863223727
|
|
NM_003036.4(SKI):c.182C>T (p.Pro61Leu)
|
rs1557806444
|
|
NM_003036.4(SKI):c.183G>C (p.Pro61=)
|
rs774187595
|
|
NM_003036.4(SKI):c.183G>T (p.Pro61=)
|
|
|
NM_003036.4(SKI):c.1848C>A (p.Ile616=)
|
rs1044806468
|
|
NM_003036.4(SKI):c.1848C>G (p.Ile616Met)
|
rs1044806468
|
|
NM_003036.4(SKI):c.184G>T (p.Ala62Ser)
|
|
|
NM_003036.4(SKI):c.1861G>A (p.Ala621Thr)
|
|
|
NM_003036.4(SKI):c.1863C>T (p.Ala621=)
|
rs200702159
|
|
NM_003036.4(SKI):c.1866G>C (p.Glu622Asp)
|
|
|
NM_003036.4(SKI):c.1871AGA[2] (p.Lys626del)
|
rs863223726
|
|
NM_003036.4(SKI):c.1879A>G (p.Met627Val)
|
rs2100924200
|
|
NM_003036.4(SKI):c.1887G>A (p.Glu629=)
|
rs771953750
|
|
NM_003036.4(SKI):c.1890C>A (p.Ala630=)
|
rs773151547
|
|
NM_003036.4(SKI):c.1890C>T (p.Ala630=)
|
rs773151547
|
|
NM_003036.4(SKI):c.189G>A (p.Pro63=)
|
|
|
NM_003036.4(SKI):c.1901G>A (p.Arg634Gln)
|
|
|
NM_003036.4(SKI):c.190_191delinsTC (p.Val64Ser)
|
|
|
NM_003036.4(SKI):c.1913A>G (p.Lys638Arg)
|
|
|
NM_003036.4(SKI):c.1918G>A (p.Glu640Lys)
|
rs1640570925
|
|
NM_003036.4(SKI):c.191_196dup (p.Val64_Pro65dup)
|
rs1553189874
|
|
NM_003036.4(SKI):c.1923G>T (p.Leu641=)
|
rs199666240
|
|
NM_003036.4(SKI):c.1932G>A (p.Ala644=)
|
rs1057521646
|
|
NM_003036.4(SKI):c.1942C>G (p.Arg648Gly)
|
rs555623960
|
|
NM_003036.4(SKI):c.1950C>T (p.Cys650=)
|
|
|
NM_003036.4(SKI):c.195_196delinsAC (p.Ala66Pro)
|
|
|
NM_003036.4(SKI):c.1965G>A (p.Glu655=)
|
rs1475570086
|
|
NM_003036.4(SKI):c.1966_1967insTCCCAGCCGGAAAGGCCTTGGAGCAGAAGCCAGGCCCGGGACCACGTTCCGTGCGTGCCCCCCCGA (p.Ala656delinsValProAlaGlyLysAlaLeuGluGlnLysProGlyProGlyProArgSerValArgAlaProProThr)
|
|
|
NM_003036.4(SKI):c.196G>A (p.Ala66Thr)
|
|
|
NM_003036.4(SKI):c.196G>C (p.Ala66Pro)
|
rs1212316098
|
|
NM_003036.4(SKI):c.1971C>T (p.Gly657=)
|
rs878854598
|
|
NM_003036.4(SKI):c.1972C>T (p.Arg658Cys)
|
|
|
NM_003036.4(SKI):c.1977G>A (p.Leu659=)
|
rs1298626276
|
|
NM_003036.4(SKI):c.1981G>A (p.Ala661Thr)
|
|
|
NM_003036.4(SKI):c.1983C>T (p.Ala661=)
|
rs973734662
|
|
NM_003036.4(SKI):c.1993G>A (p.Ala665Thr)
|
rs1569866460
|
|
NM_003036.4(SKI):c.1998+10T>C
|
|
|
NM_003036.4(SKI):c.1998+1G>T
|
|
|
NM_003036.4(SKI):c.1998+6C>T
|
rs1265118842
|
|
NM_003036.4(SKI):c.1999-12G>T
|
|
|
NM_003036.4(SKI):c.1999-14C>G
|
|
|
NM_003036.4(SKI):c.1999-14C>T
|
|
|
NM_003036.4(SKI):c.1999-7C>T
|
|
|
NM_003036.4(SKI):c.1999-9C>G
|
rs369496789
|
|
NM_003036.4(SKI):c.199_200delinsAA (p.Ala67Asn)
|
|
|
NM_003036.4(SKI):c.2006A>G (p.Asp669Gly)
|
|
|
NM_003036.4(SKI):c.2007C>G (p.Asp669Glu)
|
rs750838146
|
|
NM_003036.4(SKI):c.2007C>T (p.Asp669=)
|
rs750838146
|
|
NM_003036.4(SKI):c.2009T>G (p.Leu670Arg)
|
rs1060502673
|
|
NM_003036.4(SKI):c.200C>T (p.Ala67Val)
|
|
|
NM_003036.4(SKI):c.2011C>G (p.Gln671Glu)
|
|
|
NM_003036.4(SKI):c.2027A>G (p.His676Arg)
|
|
|
NM_003036.4(SKI):c.2028C>G (p.His676Gln)
|
rs1203179478
|
|
NM_003036.4(SKI):c.2032G>A (p.Glu678Lys)
|
|
|
NM_003036.4(SKI):c.2043G>C (p.Arg681=)
|
rs2100925770
|
|
NM_003036.4(SKI):c.2053C>T (p.Arg685Trp)
|
|
|
NM_003036.4(SKI):c.2057C>G (p.Ala686Gly)
|
|
|
NM_003036.4(SKI):c.2057_2071dup (p.Arg690_Glu691insAlaAspLeuLeuArg)
|
rs2100925789
|
|
NM_003036.4(SKI):c.205G>C (p.Glu69Gln)
|
|
|
NM_003036.4(SKI):c.2061C>A (p.Asp687Glu)
|
rs1021794039
|
|
NM_003036.4(SKI):c.2061C>T (p.Asp687=)
|
|
|
NM_003036.4(SKI):c.2067G>A (p.Leu689=)
|
|
|
NM_003036.4(SKI):c.2068C>T (p.Arg690Trp)
|
|
|
NM_003036.4(SKI):c.2069G>A (p.Arg690Gln)
|
|
|
NM_003036.4(SKI):c.206A>G (p.Glu69Gly)
|
|
|
NM_003036.4(SKI):c.2076C>T (p.Arg692=)
|
|
|
NM_003036.4(SKI):c.207G>A (p.Glu69=)
|
|
|
NM_003036.4(SKI):c.2081C>T (p.Ala694Val)
|
|
|
NM_003036.4(SKI):c.2082C>T (p.Ala694=)
|
|
|
NM_003036.4(SKI):c.2083C>T (p.Arg695Trp)
|
rs1347331671
|
|
NM_003036.4(SKI):c.2091C>T (p.His697=)
|
rs1487847272
|
|
NM_003036.4(SKI):c.2092C>G (p.Leu698Val)
|
rs766929334
|
|
NM_003036.4(SKI):c.2103G>A (p.Val701=)
|
|
|
NM_003036.4(SKI):c.2109G>A (p.Lys703=)
|
|
|
NM_003036.4(SKI):c.2111A>G (p.Glu704Gly)
|
rs1553201549
|
|
NM_003036.4(SKI):c.2112_2113delinsAT (p.Glu704_Leu705=)
|
rs2100925995
|
|
NM_003036.4(SKI):c.2120A>G (p.Glu707Gly)
|
rs2100926034
|
|
NM_003036.4(SKI):c.2139C>T (p.Ala713=)
|
|
|
NM_003036.4(SKI):c.2141G>T (p.Arg714Leu)
|
|
|
NM_003036.4(SKI):c.2142C>T (p.Arg714=)
|
rs1569868248
|
|
NM_003036.4(SKI):c.2144C>T (p.Pro715Leu)
|
rs1640595714
|
|
NM_003036.4(SKI):c.2146G>A (p.Glu716Lys)
|
rs1640595885
|
|
NM_003036.4(SKI):c.214C>T (p.Pro72Ser)
|
|
|
NM_003036.4(SKI):c.2152_*3dup (p.Ala717_Ter729=)
|
rs1557854927
|
|
NM_003036.4(SKI):c.2153C>G (p.Ala718Gly)
|
rs863223721
|
|
NM_003036.4(SKI):c.2153C>T (p.Ala718Val)
|
|
|
NM_003036.4(SKI):c.2154_*4dup (p.Ala718_Ter729=)
|
rs1308786369
|
|
NM_003036.4(SKI):c.2165G>T (p.Gly722Val)
|
rs1488554459
|
|
NM_003036.4(SKI):c.2166C>T (p.Gly722=)
|
|
|
NM_003036.4(SKI):c.2169T>G (p.Ala723=)
|
|
|
NM_003036.4(SKI):c.2172G>C (p.Ala724=)
|
rs879070309
|
|
NM_003036.4(SKI):c.2173G>C (p.Glu725Gln)
|
rs1640597058
|
|
NM_003036.4(SKI):c.2174A>G (p.Glu725Gly)
|
|
|
NM_003036.4(SKI):c.2175G>A (p.Glu725=)
|
rs1381348497
|
|
NM_003036.4(SKI):c.217G>A (p.Val73Met)
|
|
|
NM_003036.4(SKI):c.2182C>G (p.Pro728Ala)
|
|
|
NM_003036.4(SKI):c.2184G>A (p.Pro728=)
|
|
|
NM_003036.4(SKI):c.2185del (p.Ter729ArgextTer?)
|
|
|
NM_003036.4(SKI):c.2186_*9dup (p.Ter729=)
|
rs1640597997
|
|
NM_003036.4(SKI):c.219G>A (p.Val73=)
|
rs1638568131
|
|
NM_003036.4(SKI):c.220C>G (p.Leu74Val)
|
|
|
NM_003036.4(SKI):c.225C>T (p.His75=)
|
rs1553189880
|
|
NM_003036.4(SKI):c.228G>A (p.Leu76=)
|
rs1297091418
|
|
NM_003036.4(SKI):c.229C>T (p.Pro77Ser)
|
rs1370601989
|
|
NM_003036.4(SKI):c.22C>G (p.Arg8Gly)
|
rs1254990952
|
|
NM_003036.4(SKI):c.231C>T (p.Pro77=)
|
rs1638568541
|
|
NM_003036.4(SKI):c.237C>G (p.Ile79Met)
|
|
|
NM_003036.4(SKI):c.240GCC[5] (p.Pro84dup)
|
rs746731483
|
|
NM_003036.4(SKI):c.241C>G (p.Pro81Ala)
|
rs778291636
|
|
NM_003036.4(SKI):c.248C>T (p.Pro83Leu)
|
rs1060502672
|
|
NM_003036.4(SKI):c.254T>G (p.Val85Gly)
|
|
|
NM_003036.4(SKI):c.261C>A (p.Pro87=)
|
rs1257107710
|
|
NM_003036.4(SKI):c.265C>T (p.Pro89Ser)
|
rs1638569809
|
|
NM_003036.4(SKI):c.267C>T (p.Pro89=)
|
|
|
NM_003036.4(SKI):c.270C>T (p.Phe90=)
|
rs1436770788
|
|
NM_003036.4(SKI):c.271T>G (p.Phe91Val)
|
rs1638570021
|
|
NM_003036.4(SKI):c.272T>G (p.Phe91Cys)
|
|
|
NM_003036.4(SKI):c.278C>T (p.Pro93Leu)
|
rs749071609
|
|
NM_003036.4(SKI):c.279G>A (p.Pro93=)
|
rs1638570161
|
|
NM_003036.4(SKI):c.27C>A (p.Gly9=)
|
rs1476360335
|
|
NM_003036.4(SKI):c.280_291del (p.Ser94_Ser97del)
|
rs398122914
|
|
NM_003036.4(SKI):c.282C>G (p.Ser94=)
|
|
|
NM_003036.4(SKI):c.283_291del (p.Asp95_Ser97del)
|
rs398122889
|
|
NM_003036.4(SKI):c.304G>A (p.Glu102Lys)
|
rs1638570854
|
|
NM_003036.4(SKI):c.311T>C (p.Val104Ala)
|
rs886039149
|
|
NM_003036.4(SKI):c.312A>G (p.Val104=)
|
rs368195821
|
|
NM_003036.4(SKI):c.313C>T (p.Leu105=)
|
|
|
NM_003036.4(SKI):c.318A>G (p.Glu106=)
|
rs564817940
|
|
NM_003036.4(SKI):c.320G>A (p.Gly107Asp)
|
|
|
NM_003036.4(SKI):c.342G>T (p.Val114=)
|
rs1057523880
|
|
NM_003036.4(SKI):c.347G>A (p.Gly116Glu)
|
rs387907303
|
|
NM_003036.4(SKI):c.349G>A (p.Gly117Ser)
|
rs869312901
|
|
NM_003036.4(SKI):c.349G>C (p.Gly117Arg)
|
rs869312901
|
|
NM_003036.4(SKI):c.350G>A (p.Gly117Asp)
|
rs2100790073
|
|
NM_003036.4(SKI):c.351C>T (p.Gly117=)
|
rs781703488
|
|
NM_003036.4(SKI):c.352G>A (p.Glu118Lys)
|
rs869025525
|
|
NM_003036.4(SKI):c.358C>T (p.Arg120Cys)
|
rs1569658411
|
|
NM_003036.4(SKI):c.35A>T (p.Gln12Leu)
|
|
|
NM_003036.4(SKI):c.360C>A (p.Arg120=)
|
|
|
NM_003036.4(SKI):c.36G>C (p.Gln12His)
|
|
|
NM_003036.4(SKI):c.381C>T (p.Leu127=)
|
rs371497152
|
|
NM_003036.4(SKI):c.383A>T (p.Asn128Ile)
|
|
|
NM_003036.4(SKI):c.399C>T (p.Asp133=)
|
rs937379586
|
|
NM_003036.4(SKI):c.405_406delinsTT (p.Ser135_Leu136=)
|
rs2100790167
|
|
NM_003036.4(SKI):c.414G>T (p.Gln138His)
|
|
|
NM_003036.4(SKI):c.417C>A (p.Ile139=)
|
rs144874401
|
|
NM_003036.4(SKI):c.419A>C (p.Asn140Thr)
|
rs2100790187
|
|
NM_003036.4(SKI):c.420C>T (p.Asn140=)
|
rs1013962872
|
|
NM_003036.4(SKI):c.423G>C (p.Ala141=)
|
|
|
NM_003036.4(SKI):c.433G>A (p.Glu145Lys)
|
|
|
NM_003036.4(SKI):c.442A>G (p.Ile148Val)
|
|
|
NM_003036.4(SKI):c.444C>T (p.Ile148=)
|
rs1391345174
|
|
NM_003036.4(SKI):c.452C>G (p.Ser151Trp)
|
|
|
NM_003036.4(SKI):c.453G>A (p.Ser151=)
|
|
|
NM_003036.4(SKI):c.459C>T (p.Cys153=)
|
rs1638575263
|
|
NM_003036.4(SKI):c.463G>T (p.Ala155Ser)
|
rs867726673
|
|
NM_003036.4(SKI):c.468C>T (p.Asp156=)
|
|
|
NM_003036.4(SKI):c.471G>C (p.Gln157His)
|
|
|
NM_003036.4(SKI):c.487G>A (p.Val163Ile)
|
rs878854599
|
|
NM_003036.4(SKI):c.489C>T (p.Val163=)
|
rs373291824
|
|
NM_003036.4(SKI):c.48G>A (p.Gly16=)
|
|
|
NM_003036.4(SKI):c.493G>A (p.Gly165Ser)
|
rs1569658999
|
|
NM_003036.4(SKI):c.516C>G (p.Pro172=)
|
rs182513685
|
|
NM_003036.4(SKI):c.51G>A (p.Leu17=)
|
rs763997001
|
|
NM_003036.4(SKI):c.522C>T (p.Cys174=)
|
|
|
NM_003036.4(SKI):c.525G>A (p.Gly175=)
|
|
|
NM_003036.4(SKI):c.525G>T (p.Gly175=)
|
|
|
NM_003036.4(SKI):c.528C>T (p.Leu176=)
|
|
|
NM_003036.4(SKI):c.531C>T (p.Ile177=)
|
rs1286351303
|
|
NM_003036.4(SKI):c.539C>T (p.Thr180Met)
|
rs863223722
|
|
NM_003036.4(SKI):c.540G>C (p.Thr180=)
|
|
|
NM_003036.4(SKI):c.547G>A (p.Glu183Lys)
|
rs1290478159
|
|
NM_003036.4(SKI):c.570C>T (p.Leu190=)
|
rs1253539827
|
|
NM_003036.4(SKI):c.572A>G (p.Tyr191Cys)
|
rs758199656
|
|
NM_003036.4(SKI):c.574G>A (p.Gly192Ser)
|
rs1638578159
|
|
NM_003036.4(SKI):c.57G>A (p.Lys19=)
|
|
|
NM_003036.4(SKI):c.581C>A (p.Ala194Asp)
|
rs746882046
|
|
NM_003036.4(SKI):c.584A>G (p.Tyr195Cys)
|
rs1474048036
|
|
NM_003036.4(SKI):c.584A>T (p.Tyr195Phe)
|
rs1474048036
|
|
NM_003036.4(SKI):c.585C>T (p.Tyr195=)
|
|
|
NM_003036.4(SKI):c.587C>T (p.Pro196Leu)
|
rs1638578545
|
|
NM_003036.4(SKI):c.599A>G (p.Lys200Arg)
|
|
|
NM_003036.4(SKI):c.59C>T (p.Thr20Met)
|
rs1060502671
|
|
NM_003036.4(SKI):c.602A>G (p.Lys201Arg)
|
rs2100790534
|
|
NM_003036.4(SKI):c.612C>T (p.Ala204=)
|
rs2100790564
|
|
NM_003036.4(SKI):c.613G>A (p.Ala205Thr)
|
rs2100790567
|
|
NM_003036.4(SKI):c.622G>C (p.Ala208Pro)
|
rs761138564
|
|
NM_003036.4(SKI):c.623C>T (p.Ala208Val)
|
rs1276237576
|
|
NM_003036.4(SKI):c.628G>T (p.Gly210Cys)
|
|
|
NM_003036.4(SKI):c.62T>G (p.Leu21Arg)
|
rs869312902
|
|
NM_003036.4(SKI):c.631C>T (p.Leu211=)
|
|
|
NM_003036.4(SKI):c.636G>A (p.Glu212=)
|
rs1461255065
|
|
NM_003036.4(SKI):c.637C>T (p.Leu213Phe)
|
|
|
NM_003036.4(SKI):c.638_895del (p.Leu213_Ala298del)
|
rs1553189986
|
|
NM_003036.4(SKI):c.647G>T (p.Arg216Leu)
|
|
|
NM_003036.4(SKI):c.654C>T (p.Val218=)
|
|
|
NM_003036.4(SKI):c.655C>T (p.Arg219Cys)
|
rs1226163559
|
|
NM_003036.4(SKI):c.657C>T (p.Arg219=)
|
|
|
NM_003036.4(SKI):c.672C>T (p.Cys224=)
|
|
|
NM_003036.4(SKI):c.687G>C (p.Lys229Asn)
|
rs750391739
|
|
NM_003036.4(SKI):c.68A>C (p.Gln23Pro)
|
rs1557806222
|
|
NM_003036.4(SKI):c.6GGC[4] (p.Ala5dup)
|
rs1638560188
|
|
NM_003036.4(SKI):c.714C>T (p.Ser238=)
|
rs1569660010
|
|
NM_003036.4(SKI):c.717C>T (p.Ser239=)
|
|
|
NM_003036.4(SKI):c.718C>G (p.Pro240Ala)
|
|
|
NM_003036.4(SKI):c.720G>A (p.Pro240=)
|
rs1569660069
|
|
NM_003036.4(SKI):c.723C>A (p.Ser241Arg)
|
|
|
NM_003036.4(SKI):c.723C>G (p.Ser241Arg)
|
rs2100790799
|
|
NM_003036.4(SKI):c.729C>T (p.Ala243=)
|
|
|
NM_003036.4(SKI):c.742C>T (p.Leu248=)
|
|
|
NM_003036.4(SKI):c.757A>T (p.Met253Leu)
|
rs767352419
|
|
NM_003036.4(SKI):c.759G>T (p.Met253Ile)
|
|
|
NM_003036.4(SKI):c.763C>T (p.Pro255Ser)
|
|
|
NM_003036.4(SKI):c.765G>C (p.Pro255=)
|
|
|
NM_003036.4(SKI):c.767C>T (p.Pro256Leu)
|
rs2100790888
|
|
NM_003036.4(SKI):c.768G>A (p.Pro256=)
|
rs1057521232
|
|
NM_003036.4(SKI):c.768G>T (p.Pro256=)
|
|
|
NM_003036.4(SKI):c.777C>T (p.Phe259=)
|
rs2100790901
|
|
NM_003036.4(SKI):c.780G>A (p.Val260=)
|
|
|
NM_003036.4(SKI):c.786C>T (p.His262=)
|
|
|
NM_003036.4(SKI):c.789G>T (p.Ser263=)
|
|
|
NM_003036.4(SKI):c.827T>A (p.Phe276Tyr)
|
rs1557807366
|
|
NM_003036.4(SKI):c.828C>T (p.Phe276=)
|
|
|
NM_003036.4(SKI):c.82T>A (p.Ser28Thr)
|
|
|
NM_003036.4(SKI):c.83C>T (p.Ser28Phe)
|
rs1569656949
|
|
NM_003036.4(SKI):c.840C>G (p.Asn280Lys)
|
|
|
NM_003036.4(SKI):c.840C>T (p.Asn280=)
|
rs1423154745
|
|
NM_003036.4(SKI):c.847G>A (p.Ala283Thr)
|
|
|
NM_003036.4(SKI):c.848C>T (p.Ala283Val)
|
|
|
NM_003036.4(SKI):c.84C>T (p.Ser28=)
|
|
|
NM_003036.4(SKI):c.853A>T (p.Ile285Phe)
|
rs2100791027
|
|
NM_003036.4(SKI):c.858G>A (p.Leu286=)
|
|
|
NM_003036.4(SKI):c.863G>T (p.Ser288Ile)
|
rs2100791046
|
|
NM_003036.4(SKI):c.867G>A (p.Gln289=)
|
|
|
NM_003036.4(SKI):c.872A>G (p.Tyr291Cys)
|
rs1638585706
|
|
NM_003036.4(SKI):c.879C>T (p.Gly293=)
|
rs543890429
|
|
NM_003036.4(SKI):c.896G>C (p.Arg299Pro)
|
rs1482824984
|
|
NM_003036.4(SKI):c.898C>T (p.Leu300Phe)
|
rs1569660908
|
|
NM_003036.4(SKI):c.89G>A (p.Ser30Asn)
|
|
|
NM_003036.4(SKI):c.8C>A (p.Ala3Glu)
|
|
|
NM_003036.4(SKI):c.8C>G (p.Ala3Gly)
|
rs1553189801
|
|
NM_003036.4(SKI):c.8C>T (p.Ala3Val)
|
rs1553189801
|
|
NM_003036.4(SKI):c.901G>C (p.Gly301Arg)
|
|
|
NM_003036.4(SKI):c.903C>T (p.Gly301=)
|
|
|
NM_003036.4(SKI):c.915C>T (p.Asp305=)
|
rs900879745
|
|
NM_003036.4(SKI):c.91T>C (p.Ser31Pro)
|
rs1569656981
|
|
NM_003036.4(SKI):c.921G>A (p.Val307=)
|
|
|
NM_003036.4(SKI):c.924G>A (p.Lys308=)
|
|
|
NM_003036.4(SKI):c.937T>A (p.Tyr313Asn)
|
|
|
NM_003036.4(SKI):c.937T>G (p.Tyr313Asp)
|
|
|
NM_003036.4(SKI):c.94C>G (p.Leu32Val)
|
rs387907304
|
|
NM_003036.4(SKI):c.951C>T (p.Tyr317=)
|
|
|
NM_003036.4(SKI):c.963G>T (p.Val321=)
|
|
|
NM_003036.4(SKI):c.968G>T (p.Arg323Leu)
|
rs1638589251
|
|
NM_003036.4(SKI):c.969+10C>T
|
|
|
NM_003036.4(SKI):c.969G>C (p.Arg323=)
|
rs747642639
|
|
NM_003036.4(SKI):c.970-13dup
|
|
|
NM_003036.4(SKI):c.970-19A>G
|
|
|
NM_003036.4(SKI):c.970-4G>A
|
|
|
NM_003036.4(SKI):c.972CTC[1] (p.Ser326del)
|
|
|
NM_003036.4(SKI):c.983C>T (p.Pro328Leu)
|
|
|
NM_003036.4(SKI):c.987G>C (p.Pro329=)
|
|
|
NM_003036.4(SKI):c.99C>T (p.Gly33=)
|
|
|
NM_003036.4(SKI):c.9G>C (p.Ala3=)
|
|
|