NM_003036.4(SKI):c.456C>T (p.Arg152=)
|
rs149898447
|
0.00976
|
NM_003036.4(SKI):c.1446G>A (p.Ala482=)
|
rs114345135
|
0.00570
|
NM_003036.4(SKI):c.1163C>T (p.Ala388Val)
|
rs75280988
|
0.00410
|
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.216C>T (p.Pro72=)
|
rs756778048
|
0.00083
|
NM_003036.4(SKI):c.1593T>C (p.Pro531=)
|
rs144279718
|
0.00065
|
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.948G>A (p.Lys316=)
|
rs368128582
|
0.00032
|
NM_003036.4(SKI):c.312A>T (p.Val104=)
|
rs368195821
|
0.00029
|
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.2183C>T (p.Pro728Leu)
|
rs372950890
|
0.00023
|
NM_003036.4(SKI):c.2174A>C (p.Glu725Ala)
|
rs747798210
|
0.00019
|
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.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.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.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.450C>T (p.Cys150=)
|
rs538703800
|
0.00005
|
NM_003036.4(SKI):c.994A>G (p.Ile332Val)
|
rs374264201
|
0.00005
|
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.1406C>T (p.Ala469Val)
|
rs746659856
|
0.00004
|
NM_003036.4(SKI):c.1456G>A (p.Val486Ile)
|
rs200717031
|
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.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.1187A>G (p.His396Arg)
|
rs987527805
|
0.00003
|
NM_003036.4(SKI):c.1272G>A (p.Pro424=)
|
rs552946737
|
0.00003
|
NM_003036.4(SKI):c.1556G>A (p.Arg519His)
|
rs376322470
|
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.844C>A (p.Arg282=)
|
rs753783431
|
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.1153G>A (p.Ala385Thr)
|
rs758235470
|
0.00002
|
NM_003036.4(SKI):c.1211+17C>T
|
rs753878221
|
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.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.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.762C>T (p.Tyr254=)
|
rs56352201
|
0.00002
|
NM_003036.4(SKI):c.930A>G (p.Lys310=)
|
rs751629802
|
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.1070G>A (p.Arg357Gln)
|
rs200874294
|
0.00001
|
NM_003036.4(SKI):c.1152C>T (p.Pro384=)
|
rs200160702
|
0.00001
|
NM_003036.4(SKI):c.1188C>T (p.His396=)
|
rs998931386
|
0.00001
|
NM_003036.4(SKI):c.1212-13C>G
|
rs754988590
|
0.00001
|
NM_003036.4(SKI):c.129G>A (p.Ala43=)
|
rs1313492083
|
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.1339G>A (p.Ala447Thr)
|
rs1325458157
|
0.00001
|
NM_003036.4(SKI):c.1411G>T (p.Val471Leu)
|
rs745717087
|
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+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.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.1554G>A (p.Ala518=)
|
rs770050757
|
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.1735G>A (p.Ala579Thr)
|
rs370558210
|
0.00001
|
NM_003036.4(SKI):c.1739C>T (p.Ala580Val)
|
rs1397350089
|
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.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.2052G>T (p.Leu684=)
|
rs1271020892
|
0.00001
|
NM_003036.4(SKI):c.2058C>T (p.Ala686=)
|
rs1171554207
|
0.00001
|
NM_003036.4(SKI):c.2092C>T (p.Leu698=)
|
rs766929334
|
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.2172G>A (p.Ala724=)
|
rs879070309
|
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.405G>T (p.Ser135=)
|
rs769774481
|
0.00001
|
NM_003036.4(SKI):c.438C>T (p.Leu146=)
|
rs371061756
|
0.00001
|
NM_003036.4(SKI):c.480C>T (p.Ile160=)
|
rs952491836
|
0.00001
|
NM_003036.4(SKI):c.498C>T (p.Ile166=)
|
rs768733290
|
0.00001
|
NM_003036.4(SKI):c.553C>T (p.Leu185=)
|
rs753251990
|
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.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.970-10T>C
|
rs750601690
|
0.00001
|
NM_003036.4(SKI):c.970-11A>G
|
rs1640462475
|
0.00001
|
NM_003036.4(SKI):c.1025A>T (p.Gln342Leu)
|
rs377336741
|
|
NM_003036.4(SKI):c.1035G>A (p.Ala345=)
|
|
|
NM_003036.4(SKI):c.1041C>G (p.Ser347=)
|
|
|
NM_003036.4(SKI):c.1056G>A (p.Pro352=)
|
|
|
NM_003036.4(SKI):c.1057T>C (p.Ser353Pro)
|
|
|
NM_003036.4(SKI):c.1068G>T (p.Leu356=)
|
rs1057523408
|
|
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.1101G>T (p.Leu367=)
|
rs1411024116
|
|
NM_003036.4(SKI):c.1104C>T (p.Gly368=)
|
|
|
NM_003036.4(SKI):c.111T>C (p.Ala37=)
|
rs2100789581
|
|
NM_003036.4(SKI):c.1125C>A (p.Arg375=)
|
|
|
NM_003036.4(SKI):c.1128C>A (p.Leu376=)
|
|
|
NM_003036.4(SKI):c.1149C>G (p.Ser383=)
|
|
|
NM_003036.4(SKI):c.1152C>G (p.Pro384=)
|
rs200160702
|
|
NM_003036.4(SKI):c.117G>C (p.Ser39=)
|
|
|
NM_003036.4(SKI):c.1185A>G (p.Pro395=)
|
|
|
NM_003036.4(SKI):c.1194G>A (p.Pro398=)
|
|
|
NM_003036.4(SKI):c.1205G>A (p.Arg402Gln)
|
rs557289756
|
|
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.1212-6C>T
|
rs752765206
|
|
NM_003036.4(SKI):c.1212-7C>T
|
|
|
NM_003036.4(SKI):c.1230C>T (p.Ser410=)
|
|
|
NM_003036.4(SKI):c.123C>T (p.Arg41=)
|
|
|
NM_003036.4(SKI):c.1248G>A (p.Ala416=)
|
rs768317594
|
|
NM_003036.4(SKI):c.1248G>T (p.Ala416=)
|
|
|
NM_003036.4(SKI):c.1293C>T (p.Ser431=)
|
rs2100918389
|
|
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>T (p.Ala437=)
|
rs140889128
|
|
NM_003036.4(SKI):c.1325C>T (p.Ala442Val)
|
|
|
NM_003036.4(SKI):c.1326C>T (p.Ala442=)
|
|
|
NM_003036.4(SKI):c.1350C>T (p.Thr450=)
|
|
|
NM_003036.4(SKI):c.138C>G (p.Ala46=)
|
rs745527890
|
|
NM_003036.4(SKI):c.1410C>A (p.Pro470=)
|
|
|
NM_003036.4(SKI):c.1419C>T (p.Ala473=)
|
rs748183781
|
|
NM_003036.4(SKI):c.1449G>A (p.Glu483=)
|
|
|
NM_003036.4(SKI):c.144G>A (p.Lys48=)
|
|
|
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.1475-17C>T
|
|
|
NM_003036.4(SKI):c.1479C>T (p.Thr493=)
|
rs754922214
|
|
NM_003036.4(SKI):c.1482C>T (p.Ser494=)
|
|
|
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.1566C>G (p.Pro522=)
|
|
|
NM_003036.4(SKI):c.1569G>C (p.Ser523=)
|
rs767052019
|
|
NM_003036.4(SKI):c.1582G>C (p.Ala528Pro)
|
|
|
NM_003036.4(SKI):c.1587G>C (p.Ala529=)
|
rs542301067
|
|
NM_003036.4(SKI):c.1601C>T (p.Ala534Val)
|
|
|
NM_003036.4(SKI):c.1647G>C (p.Leu549=)
|
|
|
NM_003036.4(SKI):c.1653C>T (p.Gly551=)
|
|
|
NM_003036.4(SKI):c.1677A>G (p.Lys559=)
|
rs1569862103
|
|
NM_003036.4(SKI):c.1686C>T (p.Phe562=)
|
|
|
NM_003036.4(SKI):c.1710C>A (p.Arg570=)
|
|
|
NM_003036.4(SKI):c.1715A>G (p.Lys572Arg)
|
|
|
NM_003036.4(SKI):c.1728G>A (p.Lys576=)
|
|
|
NM_003036.4(SKI):c.1767+8G>A
|
rs755258323
|
|
NM_003036.4(SKI):c.1768-20G>T
|
rs375518657
|
|
NM_003036.4(SKI):c.1768-4C>G
|
|
|
NM_003036.4(SKI):c.1768-8G>T
|
|
|
NM_003036.4(SKI):c.1785C>G (p.Arg595=)
|
|
|
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.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.1863C>T (p.Ala621=)
|
rs200702159
|
|
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.1913A>G (p.Lys638Arg)
|
|
|
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.1965G>A (p.Glu655=)
|
rs1475570086
|
|
NM_003036.4(SKI):c.1971C>T (p.Gly657=)
|
rs878854598
|
|
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.1998+10T>C
|
|
|
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.2007C>G (p.Asp669Glu)
|
rs750838146
|
|
NM_003036.4(SKI):c.2007C>T (p.Asp669=)
|
rs750838146
|
|
NM_003036.4(SKI):c.200C>T (p.Ala67Val)
|
|
|
NM_003036.4(SKI):c.2043G>C (p.Arg681=)
|
rs2100925770
|
|
NM_003036.4(SKI):c.2061C>T (p.Asp687=)
|
|
|
NM_003036.4(SKI):c.2067G>A (p.Leu689=)
|
|
|
NM_003036.4(SKI):c.2069G>A (p.Arg690Gln)
|
|
|
NM_003036.4(SKI):c.207G>A (p.Glu69=)
|
|
|
NM_003036.4(SKI):c.2082C>T (p.Ala694=)
|
|
|
NM_003036.4(SKI):c.2091C>T (p.His697=)
|
rs1487847272
|
|
NM_003036.4(SKI):c.2103G>A (p.Val701=)
|
|
|
NM_003036.4(SKI):c.2109G>A (p.Lys703=)
|
|
|
NM_003036.4(SKI):c.2112_2113delinsAT (p.Glu704_Leu705=)
|
rs2100925995
|
|
NM_003036.4(SKI):c.2139C>T (p.Ala713=)
|
|
|
NM_003036.4(SKI):c.2142C>T (p.Arg714=)
|
rs1569868248
|
|
NM_003036.4(SKI):c.2153C>T (p.Ala718Val)
|
|
|
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.2175G>A (p.Glu725=)
|
rs1381348497
|
|
NM_003036.4(SKI):c.2184G>A (p.Pro728=)
|
|
|
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.231C>T (p.Pro77=)
|
rs1638568541
|
|
NM_003036.4(SKI):c.237C>G (p.Ile79Met)
|
|
|
NM_003036.4(SKI):c.261C>A (p.Pro87=)
|
rs1257107710
|
|
NM_003036.4(SKI):c.267C>T (p.Pro89=)
|
|
|
NM_003036.4(SKI):c.270C>T (p.Phe90=)
|
rs1436770788
|
|
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.282C>G (p.Ser94=)
|
|
|
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.342G>T (p.Val114=)
|
rs1057523880
|
|
NM_003036.4(SKI):c.351C>T (p.Gly117=)
|
rs781703488
|
|
NM_003036.4(SKI):c.360C>A (p.Arg120=)
|
|
|
NM_003036.4(SKI):c.381C>T (p.Leu127=)
|
rs371497152
|
|
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.417C>A (p.Ile139=)
|
rs144874401
|
|
NM_003036.4(SKI):c.420C>T (p.Asn140=)
|
rs1013962872
|
|
NM_003036.4(SKI):c.423G>C (p.Ala141=)
|
|
|
NM_003036.4(SKI):c.444C>T (p.Ile148=)
|
rs1391345174
|
|
NM_003036.4(SKI):c.453G>A (p.Ser151=)
|
|
|
NM_003036.4(SKI):c.468C>T (p.Asp156=)
|
|
|
NM_003036.4(SKI):c.489C>T (p.Val163=)
|
rs373291824
|
|
NM_003036.4(SKI):c.48G>A (p.Gly16=)
|
|
|
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.540G>C (p.Thr180=)
|
|
|
NM_003036.4(SKI):c.570C>T (p.Leu190=)
|
rs1253539827
|
|
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>T (p.Tyr195Phe)
|
rs1474048036
|
|
NM_003036.4(SKI):c.585C>T (p.Tyr195=)
|
|
|
NM_003036.4(SKI):c.612C>T (p.Ala204=)
|
rs2100790564
|
|
NM_003036.4(SKI):c.631C>T (p.Leu211=)
|
|
|
NM_003036.4(SKI):c.636G>A (p.Glu212=)
|
rs1461255065
|
|
NM_003036.4(SKI):c.654C>T (p.Val218=)
|
|
|
NM_003036.4(SKI):c.657C>T (p.Arg219=)
|
|
|
NM_003036.4(SKI):c.672C>T (p.Cys224=)
|
|
|
NM_003036.4(SKI):c.714C>T (p.Ser238=)
|
rs1569660010
|
|
NM_003036.4(SKI):c.717C>T (p.Ser239=)
|
|
|
NM_003036.4(SKI):c.720G>A (p.Pro240=)
|
rs1569660069
|
|
NM_003036.4(SKI):c.729C>T (p.Ala243=)
|
|
|
NM_003036.4(SKI):c.742C>T (p.Leu248=)
|
|
|
NM_003036.4(SKI):c.765G>C (p.Pro255=)
|
|
|
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.828C>T (p.Phe276=)
|
|
|
NM_003036.4(SKI):c.840C>T (p.Asn280=)
|
rs1423154745
|
|
NM_003036.4(SKI):c.84C>T (p.Ser28=)
|
|
|
NM_003036.4(SKI):c.858G>A (p.Leu286=)
|
|
|
NM_003036.4(SKI):c.867G>A (p.Gln289=)
|
|
|
NM_003036.4(SKI):c.903C>T (p.Gly301=)
|
|
|
NM_003036.4(SKI):c.915C>T (p.Asp305=)
|
rs900879745
|
|
NM_003036.4(SKI):c.921G>A (p.Val307=)
|
|
|
NM_003036.4(SKI):c.924G>A (p.Lys308=)
|
|
|
NM_003036.4(SKI):c.951C>T (p.Tyr317=)
|
|
|
NM_003036.4(SKI):c.963G>T (p.Val321=)
|
|
|
NM_003036.4(SKI):c.969+10C>T
|
|
|
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.987G>C (p.Pro329=)
|
|
|
NM_003036.4(SKI):c.99C>T (p.Gly33=)
|
|
|
NM_003036.4(SKI):c.9G>C (p.Ala3=)
|
|
|