NM_002230.4(JUP):c.*853C>T
|
rs55919561
|
0.01530
|
NM_002230.4(JUP):c.*623G>A
|
rs55634776
|
0.01451
|
NM_002230.4(JUP):c.2047-14C>G
|
rs116666639
|
0.00819
|
NM_002230.4(JUP):c.1942G>A (p.Val648Ile)
|
rs143043662
|
0.00760
|
NM_002230.4(JUP):c.1563A>G (p.Ala521=)
|
rs149926974
|
0.00753
|
NM_002230.4(JUP):c.*1027G>C
|
rs147905567
|
0.00640
|
NM_002230.4(JUP):c.*2C>T
|
rs112879398
|
0.00630
|
NM_002230.4(JUP):c.*239G>A
|
rs115919416
|
0.00526
|
NM_002230.4(JUP):c.777C>T (p.Gly259=)
|
rs34890640
|
0.00507
|
NM_002230.4(JUP):c.-96G>A
|
rs552101358
|
0.00212
|
NM_002230.4(JUP):c.*21C>A
|
rs41275669
|
0.00146
|
NM_004415.4(DSP):c.2773C>T (p.Arg925Trp)
|
rs145933612
|
0.00143
|
NM_002230.4(JUP):c.*771G>C
|
rs569650118
|
0.00130
|
NM_002230.4(JUP):c.*787A>G
|
rs551870163
|
0.00125
|
NM_002230.4(JUP):c.*98C>T
|
rs112151379
|
0.00080
|
NM_002230.4(JUP):c.1054+7A>T
|
rs371988639
|
0.00049
|
NM_002230.4(JUP):c.297G>A (p.Ser99=)
|
rs200976464
|
0.00049
|
NM_004415.4(DSP):c.2683T>C (p.Tyr895His)
|
rs375891215
|
0.00043
|
NM_002230.4(JUP):c.1807G>T (p.Val603Leu)
|
rs200327969
|
0.00038
|
NM_002230.4(JUP):c.1366G>A (p.Val456Ile)
|
rs78437817
|
0.00036
|
NM_004415.4(DSP):c.2288A>G (p.Tyr763Cys)
|
rs113967308
|
0.00034
|
NM_002230.4(JUP):c.*339C>T
|
rs575041614
|
0.00031
|
NM_004415.4(DSP):c.273+5G>A
|
rs200473206
|
0.00031
|
NM_002230.4(JUP):c.486G>A (p.Ala162=)
|
rs113317262
|
0.00026
|
NM_004415.4(DSP):c.1696G>A (p.Ala566Thr)
|
rs148147581
|
0.00026
|
NM_002230.4(JUP):c.546G>A (p.Ser182=)
|
rs202038498
|
0.00023
|
NM_002230.4(JUP):c.2207C>T (p.Pro736Leu)
|
rs151178348
|
0.00022
|
NM_002230.4(JUP):c.2069A>G (p.Asn690Ser)
|
rs147628503
|
0.00019
|
NM_004415.4(DSP):c.6247C>T (p.Arg2083Cys)
|
rs370093129
|
0.00019
|
NM_002230.4(JUP):c.1377G>T (p.Leu459=)
|
rs147370522
|
0.00018
|
NM_002230.4(JUP):c.1582G>A (p.Val528Ile)
|
rs368271628
|
0.00018
|
NM_002230.4(JUP):c.2031G>A (p.Pro677=)
|
rs188888662
|
0.00018
|
NM_002230.4(JUP):c.1172G>A (p.Ser391Asn)
|
rs199826380
|
0.00016
|
NM_002230.4(JUP):c.2178C>T (p.Ile726=)
|
rs141295561
|
0.00016
|
NM_004415.4(DSP):c.-157G>A
|
rs886061742
|
0.00016
|
NM_004415.4(DSP):c.2468C>T (p.Ser823Leu)
|
rs141834182
|
0.00016
|
NM_004415.4(DSP):c.6479G>A (p.Arg2160Gln)
|
rs146642551
|
0.00016
|
NM_004415.4(DSP):c.8482G>A (p.Gly2828Ser)
|
rs369682599
|
0.00016
|
NM_002230.4(JUP):c.*413C>T
|
rs559600252
|
0.00015
|
NM_002230.4(JUP):c.2086+13C>T
|
rs199935213
|
0.00015
|
NM_002230.4(JUP):c.801C>T (p.Ala267=)
|
rs138397457
|
0.00014
|
NM_004415.4(DSP):c.1534A>G (p.Ile512Val)
|
rs202025438
|
0.00014
|
NM_004415.4(DSP):c.242G>A (p.Cys81Tyr)
|
rs140965835
|
0.00014
|
NM_004415.4(DSP):c.521G>T (p.Cys174Phe)
|
rs377507763
|
0.00014
|
NM_002230.4(JUP):c.545C>T (p.Ser182Leu)
|
rs145592971
|
0.00013
|
NM_004415.4(DSP):c.2552T>A (p.Leu851Gln)
|
rs111368396
|
0.00013
|
NM_004415.4(DSP):c.3562T>C (p.Tyr1188His)
|
rs141508330
|
0.00013
|
NM_002230.4(JUP):c.1959C>T (p.Ser653=)
|
rs375451560
|
0.00012
|
NM_004415.4(DSP):c.2134G>A (p.Val712Met)
|
rs397516922
|
0.00012
|
NM_004415.4(DSP):c.3600T>G (p.Asn1200Lys)
|
rs202049575
|
0.00012
|
NM_002230.4(JUP):c.352G>A (p.Glu118Lys)
|
rs149004293
|
0.00011
|
NM_002230.4(JUP):c.-55C>T
|
rs886052921
|
0.00010
|
NM_002230.4(JUP):c.1565C>T (p.Ala522Val)
|
rs1060502679
|
0.00010
|
NM_002230.4(JUP):c.608G>A (p.Arg203His)
|
rs200221163
|
0.00010
|
NM_002230.4(JUP):c.926A>G (p.Asn309Ser)
|
rs140606359
|
0.00010
|
NM_004415.4(DSP):c.3146C>T (p.Ser1049Leu)
|
rs751361395
|
0.00010
|
NM_004415.4(DSP):c.3922C>T (p.Arg1308Trp)
|
rs144641271
|
0.00010
|
NM_004415.4(DSP):c.6307A>G (p.Lys2103Glu)
|
rs149513743
|
0.00010
|
NM_002230.3(JUP):c.*1136C>T
|
rs539534709
|
0.00009
|
NM_002230.4(JUP):c.1372G>A (p.Ala458Thr)
|
rs139559495
|
0.00009
|
NM_002230.4(JUP):c.1862T>C (p.Ile621Thr)
|
rs752594411
|
0.00009
|
NM_002230.4(JUP):c.578T>C (p.Met193Thr)
|
rs139496777
|
0.00009
|
NM_002230.4(JUP):c.892G>A (p.Gly298Ser)
|
rs199597864
|
0.00009
|
NM_004415.4(DSP):c.2799G>C (p.Leu933Phe)
|
rs372922674
|
0.00009
|
NM_004415.4(DSP):c.424C>T (p.Leu142Phe)
|
rs373769397
|
0.00009
|
NM_002230.4(JUP):c.1982G>A (p.Arg661Gln)
|
rs555499592
|
0.00008
|
NM_002230.4(JUP):c.475G>T (p.Val159Leu)
|
rs782702266
|
0.00008
|
NM_002230.4(JUP):c.809T>A (p.Leu270Gln)
|
rs794729040
|
0.00008
|
NM_004415.4(DSP):c.107G>C (p.Gly36Ala)
|
rs778506459
|
0.00008
|
NM_004415.4(DSP):c.2125C>T (p.Leu709Phe)
|
rs1431507005
|
0.00008
|
NM_002230.4(JUP):c.1774-6C>T
|
rs375016135
|
0.00007
|
NM_002230.4(JUP):c.2030C>T (p.Pro677Leu)
|
rs782622653
|
0.00007
|
NM_002230.4(JUP):c.356C>T (p.Pro119Leu)
|
rs376123010
|
0.00007
|
NM_002230.4(JUP):c.427G>A (p.Ala143Thr)
|
rs375788626
|
0.00007
|
NM_002230.4(JUP):c.526C>T (p.Arg176Trp)
|
rs368336007
|
0.00007
|
NM_002230.4(JUP):c.529C>T (p.Arg177Trp)
|
rs148484473
|
0.00007
|
NM_002230.4(JUP):c.56C>T (p.Thr19Ile)
|
rs570878629
|
0.00007
|
NM_004415.4(DSP):c.2941A>G (p.Lys981Glu)
|
rs747580402
|
0.00007
|
NM_004415.4(DSP):c.5363A>G (p.Gln1788Arg)
|
rs139673146
|
0.00007
|
NM_004415.4(DSP):c.8172G>T (p.Gln2724His)
|
rs372569211
|
0.00007
|
NM_002230.4(JUP):c.*351G>A
|
rs782725604
|
0.00006
|
NM_002230.4(JUP):c.-51C>G
|
rs886052920
|
0.00006
|
NM_002230.4(JUP):c.1055-14del
|
rs140002183
|
0.00006
|
NM_002230.4(JUP):c.109G>A (p.Val37Ile)
|
rs150769772
|
0.00006
|
NM_002230.4(JUP):c.1909C>T (p.Arg637Cys)
|
rs531732438
|
0.00006
|
NM_002230.4(JUP):c.1912A>C (p.Asn638His)
|
rs782658008
|
0.00006
|
NM_002230.4(JUP):c.2167_2172del (p.Asp723_Tyr724del)
|
rs782439900
|
0.00006
|
NM_002230.4(JUP):c.530G>A (p.Arg177Gln)
|
rs371481933
|
0.00006
|
NM_002230.4(JUP):c.561C>T (p.Ala187=)
|
rs139552714
|
0.00006
|
NM_002230.4(JUP):c.568G>A (p.Val190Met)
|
rs370143312
|
0.00006
|
NM_002230.4(JUP):c.778G>A (p.Ala260Thr)
|
rs149623442
|
0.00006
|
NM_004415.4(DSP):c.2122G>A (p.Glu708Lys)
|
rs773113261
|
0.00006
|
NM_004415.4(DSP):c.3304G>A (p.Gly1102Ser)
|
rs2491079
|
0.00006
|
NM_004415.4(DSP):c.3836C>T (p.Ala1279Val)
|
rs753270443
|
0.00006
|
NM_004415.4(DSP):c.4022G>A (p.Arg1341His)
|
rs112242645
|
0.00006
|
NM_004415.4(DSP):c.4117A>G (p.Thr1373Ala)
|
rs200745877
|
0.00006
|
NM_004415.4(DSP):c.5197G>A (p.Asp1733Asn)
|
rs138588403
|
0.00006
|
NM_004415.4(DSP):c.6511A>G (p.Asn2171Asp)
|
rs149827779
|
0.00006
|
NM_002230.4(JUP):c.*728A>C
|
rs889216050
|
0.00005
|
NM_002230.4(JUP):c.*906A>C
|
rs569644513
|
0.00005
|
NM_002230.4(JUP):c.1039G>A (p.Ala347Thr)
|
rs782301706
|
0.00005
|
NM_002230.4(JUP):c.1130G>A (p.Arg377His)
|
rs794729044
|
0.00005
|
NM_002230.4(JUP):c.2102A>G (p.Tyr701Cys)
|
rs781857012
|
0.00005
|
NM_002230.4(JUP):c.412G>A (p.Glu138Lys)
|
rs150245906
|
0.00005
|
NM_002230.4(JUP):c.460G>A (p.Glu154Lys)
|
rs782765314
|
0.00005
|
NM_002230.4(JUP):c.989C>A (p.Thr330Asn)
|
rs782145797
|
0.00005
|
NM_002230.4(JUP):c.998G>A (p.Arg333His)
|
rs727503099
|
0.00005
|
NM_004415.4(DSP):c.3971A>T (p.Asn1324Ile)
|
rs749820299
|
0.00005
|
NM_004415.4(DSP):c.5285G>A (p.Arg1762Gln)
|
rs751849031
|
0.00005
|
NM_004415.4(DSP):c.6452G>A (p.Arg2151Gln)
|
rs367759510
|
0.00005
|
NM_004415.4(DSP):c.6718C>G (p.Gln2240Glu)
|
rs374262024
|
0.00005
|
NM_002230.4(JUP):c.*87G>A
|
rs375989026
|
0.00004
|
NM_002230.4(JUP):c.1035G>C (p.Lys345Asn)
|
rs150194093
|
0.00004
|
NM_002230.4(JUP):c.115A>G (p.Ser39Gly)
|
rs782211863
|
0.00004
|
NM_002230.4(JUP):c.1219G>A (p.Val407Ile)
|
rs370913228
|
0.00004
|
NM_002230.4(JUP):c.1280C>T (p.Thr427Met)
|
rs781982717
|
0.00004
|
NM_002230.4(JUP):c.1331G>A (p.Arg444His)
|
rs369507567
|
0.00004
|
NM_002230.4(JUP):c.1359G>T (p.Glu453Asp)
|
rs376608339
|
0.00004
|
NM_002230.4(JUP):c.1486C>A (p.Pro496Thr)
|
rs1220042864
|
0.00004
|
NM_002230.4(JUP):c.1550C>T (p.Pro517Leu)
|
rs781988240
|
0.00004
|
NM_002230.4(JUP):c.161C>T (p.Thr54Met)
|
rs782529328
|
0.00004
|
NM_002230.4(JUP):c.1653G>A (p.Thr551=)
|
rs782044013
|
0.00004
|
NM_002230.4(JUP):c.1715G>A (p.Arg572Gln)
|
rs397517298
|
0.00004
|
NM_002230.4(JUP):c.1806C>T (p.Arg602=)
|
rs781934535
|
0.00004
|
NM_002230.4(JUP):c.1880C>T (p.Ser627Leu)
|
rs781883243
|
0.00004
|
NM_002230.4(JUP):c.1882G>A (p.Ala628Thr)
|
rs730880114
|
0.00004
|
NM_002230.4(JUP):c.1902G>T (p.Leu634=)
|
rs145808264
|
0.00004
|
NM_002230.4(JUP):c.2104C>T (p.Arg702Cys)
|
rs545547083
|
0.00004
|
NM_002230.4(JUP):c.2105G>A (p.Arg702His)
|
rs200690479
|
0.00004
|
NM_002230.4(JUP):c.2122G>A (p.Asp708Asn)
|
rs781804177
|
0.00004
|
NM_002230.4(JUP):c.2128C>T (p.Pro710Ser)
|
rs782693565
|
0.00004
|
NM_002230.4(JUP):c.257G>A (p.Arg86Gln)
|
rs782341732
|
0.00004
|
NM_002230.4(JUP):c.321G>A (p.Glu107=)
|
rs781978743
|
0.00004
|
NM_002230.4(JUP):c.329C>T (p.Ala110Val)
|
rs782770278
|
0.00004
|
NM_002230.4(JUP):c.493A>G (p.Ile165Val)
|
rs782461741
|
0.00004
|
NM_002230.4(JUP):c.607C>T (p.Arg203Cys)
|
rs147354282
|
0.00004
|
NM_002230.4(JUP):c.624C>G (p.Ile208Met)
|
rs566435665
|
0.00004
|
NM_002230.4(JUP):c.746C>T (p.Thr249Met)
|
rs377612199
|
0.00004
|
NM_004415.4(DSP):c.137G>A (p.Gly46Asp)
|
rs140403872
|
0.00004
|
NM_004415.4(DSP):c.1418A>G (p.Gln473Arg)
|
rs746802503
|
0.00004
|
NM_004415.4(DSP):c.2622C>G (p.Ile874Met)
|
rs751067479
|
0.00004
|
NM_004415.4(DSP):c.2684A>G (p.Tyr895Cys)
|
rs367752002
|
0.00004
|
NM_004415.4(DSP):c.3134G>A (p.Arg1045Gln)
|
rs374263890
|
0.00004
|
NM_004415.4(DSP):c.3684A>C (p.Lys1228Asn)
|
rs765645957
|
0.00004
|
NM_004415.4(DSP):c.3863A>G (p.Lys1288Arg)
|
rs746482538
|
0.00004
|
NM_004415.4(DSP):c.3904C>T (p.Arg1302Cys)
|
rs775594375
|
0.00004
|
NM_004415.4(DSP):c.4199G>A (p.Arg1400Gln)
|
rs748109826
|
0.00004
|
NM_004415.4(DSP):c.4490G>A (p.Arg1497Gln)
|
rs727505037
|
0.00004
|
NM_004415.4(DSP):c.4997G>A (p.Arg1666Gln)
|
rs768577891
|
0.00004
|
NM_004415.4(DSP):c.5194G>A (p.Asp1732Asn)
|
rs780224658
|
0.00004
|
NM_004415.4(DSP):c.5795G>A (p.Arg1932His)
|
rs770522444
|
0.00004
|
NM_004415.4(DSP):c.5839T>C (p.Tyr1947His)
|
rs767259019
|
0.00004
|
NM_004415.4(DSP):c.596G>A (p.Arg199Lys)
|
rs143648545
|
0.00004
|
NM_004415.4(DSP):c.6595C>T (p.Leu2199Phe)
|
rs549451471
|
0.00004
|
NM_004415.4(DSP):c.7970C>T (p.Thr2657Ile)
|
rs1478775642
|
0.00004
|
NM_004415.4(DSP):c.8117A>T (p.Lys2706Met)
|
rs537588390
|
0.00004
|
NM_004415.4(DSP):c.8500C>T (p.Arg2834Cys)
|
rs753033333
|
0.00004
|
NM_004415.4(DSP):c.8590T>C (p.Phe2864Leu)
|
rs764514210
|
0.00004
|
NM_004415.4(DSP):c.939C>T (p.Ser313=)
|
rs766580649
|
0.00004
|
NM_002230.4(JUP):c.*567C>G
|
rs886052914
|
0.00003
|
NM_002230.4(JUP):c.*573C>T
|
rs886052913
|
0.00003
|
NM_002230.4(JUP):c.*670G>T
|
rs782166986
|
0.00003
|
NM_002230.4(JUP):c.1099C>G (p.Arg367Gly)
|
rs76416187
|
0.00003
|
NM_002230.4(JUP):c.1218C>T (p.Asn406=)
|
rs782565128
|
0.00003
|
NM_002230.4(JUP):c.1222C>T (p.Leu408Phe)
|
rs369755953
|
0.00003
|
NM_002230.4(JUP):c.1235C>T (p.Thr412Met)
|
rs782551865
|
0.00003
|
NM_002230.4(JUP):c.1379G>A (p.Arg460His)
|
rs397517296
|
0.00003
|
NM_002230.4(JUP):c.1430G>A (p.Arg477His)
|
rs781788038
|
0.00003
|
NM_002230.4(JUP):c.1439A>G (p.Tyr480Cys)
|
rs782756834
|
0.00003
|
NM_002230.4(JUP):c.1729C>T (p.Arg577Cys)
|
rs782354654
|
0.00003
|
NM_002230.4(JUP):c.1933G>A (p.Ala645Thr)
|
rs727504778
|
0.00003
|
NM_002230.4(JUP):c.1995C>T (p.Ser665=)
|
rs782094877
|
0.00003
|
NM_002230.4(JUP):c.1996G>A (p.Val666Met)
|
rs372369061
|
0.00003
|
NM_002230.4(JUP):c.2021A>G (p.Lys674Arg)
|
rs1914011596
|
0.00003
|
NM_002230.4(JUP):c.2189G>A (p.Ser730Asn)
|
rs782261124
|
0.00003
|
NM_002230.4(JUP):c.332C>T (p.Thr111Ile)
|
rs782080859
|
0.00003
|
NM_002230.4(JUP):c.467C>T (p.Pro156Leu)
|
rs782052422
|
0.00003
|
NM_002230.4(JUP):c.509C>T (p.Ser170Leu)
|
rs782284038
|
0.00003
|
NM_004415.4(DSP):c.1103T>C (p.Ile368Thr)
|
rs141163578
|
0.00003
|
NM_004415.4(DSP):c.1324T>G (p.Ser442Ala)
|
rs755492444
|
0.00003
|
NM_004415.4(DSP):c.1840G>A (p.Asp614Asn)
|
rs764951792
|
0.00003
|
NM_004415.4(DSP):c.2038G>A (p.Glu680Lys)
|
rs1186943530
|
0.00003
|
NM_004415.4(DSP):c.2345A>G (p.Asp782Gly)
|
rs557966264
|
0.00003
|
NM_004415.4(DSP):c.2540C>T (p.Pro847Leu)
|
rs727504657
|
0.00003
|
NM_004415.4(DSP):c.2566T>C (p.Phe856Leu)
|
rs779253041
|
0.00003
|
NM_004415.4(DSP):c.3153C>A (p.Asn1051Lys)
|
rs563387839
|
0.00003
|
NM_004415.4(DSP):c.3551G>A (p.Arg1184Gln)
|
rs147909031
|
0.00003
|
NM_004415.4(DSP):c.4081A>C (p.Ser1361Arg)
|
rs747326519
|
0.00003
|
NM_004415.4(DSP):c.4105G>A (p.Glu1369Lys)
|
rs141805096
|
0.00003
|
NM_004415.4(DSP):c.4492A>G (p.Lys1498Glu)
|
rs794728122
|
0.00003
|
NM_004415.4(DSP):c.578G>T (p.Gly193Val)
|
rs750350474
|
0.00003
|
NM_004415.4(DSP):c.5827A>G (p.Arg1943Gly)
|
rs140663822
|
0.00003
|
NM_004415.4(DSP):c.6187C>G (p.Arg2063Gly)
|
rs374090050
|
0.00003
|
NM_004415.4(DSP):c.7039A>G (p.Ile2347Val)
|
rs768837509
|
0.00003
|
NM_004415.4(DSP):c.7075A>G (p.Ile2359Val)
|
rs774087560
|
0.00003
|
NM_004415.4(DSP):c.7588A>T (p.Ile2530Phe)
|
rs397516958
|
0.00003
|
NM_004415.4(DSP):c.7915C>T (p.Arg2639Trp)
|
rs771553674
|
0.00003
|
NM_004415.4(DSP):c.8401C>G (p.Arg2801Gly)
|
rs760215987
|
0.00003
|
NM_004415.4(DSP):c.860A>G (p.Asn287Ser)
|
rs138872423
|
0.00003
|
NM_004415.4(DSP):c.997A>G (p.Ser333Gly)
|
rs773685575
|
0.00003
|
NM_002230.4(JUP):c.*316G>A
|
rs910457325
|
0.00002
|
NM_002230.4(JUP):c.1324A>T (p.Ile442Phe)
|
rs142213474
|
0.00002
|
NM_002230.4(JUP):c.1354A>T (p.Thr452Ser)
|
rs794729045
|
0.00002
|
NM_002230.4(JUP):c.148G>A (p.Gly50Arg)
|
rs374008304
|
0.00002
|
NM_002230.4(JUP):c.1490T>G (p.Leu497Arg)
|
rs1327324458
|
0.00002
|
NM_002230.4(JUP):c.1513A>G (p.Ile505Val)
|
rs955019712
|
0.00002
|
NM_002230.4(JUP):c.1618C>T (p.Arg540Cys)
|
rs782455234
|
0.00002
|
NM_002230.4(JUP):c.1714C>T (p.Arg572Trp)
|
rs559297418
|
0.00002
|
NM_002230.4(JUP):c.1753A>G (p.Thr585Ala)
|
rs782653485
|
0.00002
|
NM_002230.4(JUP):c.1804C>T (p.Arg602Cys)
|
rs199511559
|
0.00002
|
NM_002230.4(JUP):c.1850C>T (p.Ala617Val)
|
rs782465804
|
0.00002
|
NM_002230.4(JUP):c.1865A>T (p.Asp622Val)
|
rs1021325325
|
0.00002
|
NM_002230.4(JUP):c.2153T>C (p.Met718Thr)
|
rs782336064
|
0.00002
|
NM_002230.4(JUP):c.2191G>A (p.Asp731Asn)
|
rs782647137
|
0.00002
|
NM_002230.4(JUP):c.2194G>A (p.Gly732Ser)
|
rs781885294
|
0.00002
|
NM_002230.4(JUP):c.2208G>A (p.Pro736=)
|
rs371508357
|
0.00002
|
NM_002230.4(JUP):c.274G>T (p.Gly92Cys)
|
rs781875765
|
0.00002
|
NM_002230.4(JUP):c.286G>A (p.Glu96Lys)
|
rs191683892
|
0.00002
|
NM_002230.4(JUP):c.436G>A (p.Glu146Lys)
|
rs146581757
|
0.00002
|
NM_002230.4(JUP):c.502C>G (p.Gln168Glu)
|
rs1322804388
|
0.00002
|
NM_002230.4(JUP):c.521C>T (p.Ala174Val)
|
rs146786437
|
0.00002
|
NM_002230.4(JUP):c.524C>T (p.Ser175Leu)
|
rs782435477
|
0.00002
|
NM_002230.4(JUP):c.533C>T (p.Ala178Val)
|
rs781976753
|
0.00002
|
NM_002230.4(JUP):c.572G>A (p.Arg191His)
|
rs143502391
|
0.00002
|
NM_002230.4(JUP):c.646C>T (p.Arg216Trp)
|
rs1490199319
|
0.00002
|
NM_002230.4(JUP):c.675G>A (p.Ser225=)
|
rs782063643
|
0.00002
|
NM_002230.4(JUP):c.682A>G (p.Ile228Val)
|
rs374566089
|
0.00002
|
NM_002230.4(JUP):c.694G>A (p.Val232Ile)
|
rs137989964
|
0.00002
|
NM_002230.4(JUP):c.833A>G (p.Asn278Ser)
|
rs541560189
|
0.00002
|
NM_002230.4(JUP):c.951G>C (p.Gln317His)
|
rs782215140
|
0.00002
|
NM_002230.4(JUP):c.964T>C (p.Tyr322His)
|
rs557075259
|
0.00002
|
NM_004415.4(DSP):c.1040T>C (p.Ile347Thr)
|
rs757208743
|
0.00002
|
NM_004415.4(DSP):c.104G>C (p.Gly35Ala)
|
rs202194206
|
0.00002
|
NM_004415.4(DSP):c.1419+5G>C
|
rs1004508873
|
0.00002
|
NM_004415.4(DSP):c.1732A>C (p.Lys578Gln)
|
rs761478865
|
0.00002
|
NM_004415.4(DSP):c.1816C>T (p.Arg606Trp)
|
rs372467697
|
0.00002
|
NM_004415.4(DSP):c.1903+4G>A
|
rs757726608
|
0.00002
|
NM_004415.4(DSP):c.2234A>G (p.Glu745Gly)
|
rs969462343
|
0.00002
|
NM_004415.4(DSP):c.2479A>T (p.Thr827Ser)
|
rs1009521297
|
0.00002
|
NM_004415.4(DSP):c.2674C>T (p.Arg892Cys)
|
rs750800025
|
0.00002
|
NM_004415.4(DSP):c.2719C>T (p.Arg907Cys)
|
rs749051278
|
0.00002
|
NM_004415.4(DSP):c.3835G>A (p.Ala1279Thr)
|
rs763915365
|
0.00002
|
NM_004415.4(DSP):c.384G>A (p.Met128Ile)
|
rs930440897
|
0.00002
|
NM_004415.4(DSP):c.3877A>G (p.Ile1293Val)
|
rs376555665
|
0.00002
|
NM_004415.4(DSP):c.4233G>C (p.Arg1411Ser)
|
rs771721410
|
0.00002
|
NM_004415.4(DSP):c.449G>A (p.Arg150Gln)
|
rs587782940
|
0.00002
|
NM_004415.4(DSP):c.4867T>C (p.Ser1623Pro)
|
rs749679496
|
0.00002
|
NM_004415.4(DSP):c.5009A>G (p.Gln1670Arg)
|
rs1052973336
|
0.00002
|
NM_004415.4(DSP):c.517A>T (p.Thr173Ser)
|
rs1372912970
|
0.00002
|
NM_004415.4(DSP):c.5183G>A (p.Arg1728Lys)
|
rs750854585
|
0.00002
|
NM_004415.4(DSP):c.5324G>T (p.Arg1775Ile)
|
rs34738426
|
0.00002
|
NM_004415.4(DSP):c.6397G>A (p.Gly2133Ser)
|
rs372393122
|
0.00002
|
NM_004415.4(DSP):c.6476A>T (p.Tyr2159Phe)
|
rs1581822548
|
0.00002
|
NM_004415.4(DSP):c.7200A>C (p.Glu2400Asp)
|
rs1209240894
|
0.00002
|
NM_004415.4(DSP):c.740C>T (p.Ala247Val)
|
rs544360130
|
0.00002
|
NM_004415.4(DSP):c.7924G>A (p.Val2642Ile)
|
rs869025397
|
0.00002
|
NM_004415.4(DSP):c.82T>G (p.Tyr28Asp)
|
rs766454930
|
0.00002
|
NM_004415.4(DSP):c.8536C>G (p.Arg2846Gly)
|
rs397516972
|
0.00002
|
NM_002230.4(JUP):c.*436G>A
|
rs886052915
|
0.00001
|
NM_002230.4(JUP):c.100G>A (p.Val34Met)
|
rs794729029
|
0.00001
|
NM_002230.4(JUP):c.1069C>G (p.Leu357Val)
|
rs1455055075
|
0.00001
|
NM_002230.4(JUP):c.107C>T (p.Ser36Phe)
|
rs1555607036
|
0.00001
|
NM_002230.4(JUP):c.1096C>A (p.Pro366Thr)
|
rs782690097
|
0.00001
|
NM_002230.4(JUP):c.1096C>G (p.Pro366Ala)
|
rs782690097
|
0.00001
|
NM_002230.4(JUP):c.1100G>T (p.Arg367Leu)
|
rs782067441
|
0.00001
|
NM_002230.4(JUP):c.1129C>A (p.Arg377Ser)
|
rs368564000
|
0.00001
|
NM_002230.4(JUP):c.1158+2_1158+4dup
|
rs782280458
|
0.00001
|
NM_002230.4(JUP):c.1204G>A (p.Val402Met)
|
rs782241125
|
0.00001
|
NM_002230.4(JUP):c.1213G>A (p.Val405Ile)
|
rs200019016
|
0.00001
|
NM_002230.4(JUP):c.1236G>A (p.Thr412=)
|
rs376391674
|
0.00001
|
NM_002230.4(JUP):c.1262A>G (p.Asn421Ser)
|
rs782135453
|
0.00001
|
NM_002230.4(JUP):c.1300G>A (p.Gly434Ser)
|
rs1555602250
|
0.00001
|
NM_002230.4(JUP):c.1308G>T (p.Glu436Asp)
|
rs782594495
|
0.00001
|
NM_002230.4(JUP):c.1330C>T (p.Arg444Cys)
|
rs781793865
|
0.00001
|
NM_002230.4(JUP):c.1333G>C (p.Ala445Pro)
|
rs782465430
|
0.00001
|
NM_002230.4(JUP):c.1336G>T (p.Gly446Cys)
|
rs781876461
|
0.00001
|
NM_002230.4(JUP):c.1347C>T (p.Asp449=)
|
rs763261901
|
0.00001
|
NM_002230.4(JUP):c.1355C>T (p.Thr452Met)
|
rs781888888
|
0.00001
|
NM_002230.4(JUP):c.136G>A (p.Asp46Asn)
|
rs782308879
|
0.00001
|
NM_002230.4(JUP):c.1378C>T (p.Arg460Cys)
|
rs782575391
|
0.00001
|
NM_002230.4(JUP):c.1391G>A (p.Ser464Asn)
|
rs1060502681
|
0.00001
|
NM_002230.4(JUP):c.1394G>A (p.Arg465His)
|
rs369486398
|
0.00001
|
NM_002230.4(JUP):c.1400C>T (p.Pro467Leu)
|
rs782667501
|
0.00001
|
NM_002230.4(JUP):c.151C>T (p.Arg51Cys)
|
rs782254006
|
0.00001
|
NM_002230.4(JUP):c.152G>A (p.Arg51His)
|
rs571707598
|
0.00001
|
NM_002230.4(JUP):c.1555C>G (p.Gln519Glu)
|
rs139454583
|
0.00001
|
NM_002230.4(JUP):c.1576C>T (p.Arg526Cys)
|
rs782309611
|
0.00001
|
NM_002230.4(JUP):c.1586A>T (p.Gln529Leu)
|
rs1914310860
|
0.00001
|
NM_002230.4(JUP):c.1606C>G (p.Gln536Glu)
|
rs782683108
|
0.00001
|
NM_002230.4(JUP):c.160A>G (p.Thr54Ala)
|
rs781784933
|
0.00001
|
NM_002230.4(JUP):c.1619G>T (p.Arg540Leu)
|
rs376881608
|
0.00001
|
NM_002230.4(JUP):c.1624G>A (p.Val542Ile)
|
rs571375136
|
0.00001
|
NM_002230.4(JUP):c.1631C>T (p.Ala544Val)
|
rs782762751
|
0.00001
|
NM_002230.4(JUP):c.1652C>T (p.Thr551Met)
|
rs1038719021
|
0.00001
|
NM_002230.4(JUP):c.1667T>C (p.Met556Thr)
|
rs781884735
|
0.00001
|
NM_002230.4(JUP):c.1730G>A (p.Arg577His)
|
rs373434456
|
0.00001
|
NM_002230.4(JUP):c.1744C>T (p.Arg582Trp)
|
rs782205755
|
0.00001
|
NM_002230.4(JUP):c.1760C>T (p.Pro587Leu)
|
rs782490959
|
0.00001
|
NM_002230.4(JUP):c.1780T>A (p.Tyr594Asn)
|
rs1555599033
|
0.00001
|
NM_002230.4(JUP):c.1787C>T (p.Ser596Leu)
|
rs940226194
|
0.00001
|
NM_002230.4(JUP):c.1805G>A (p.Arg602His)
|
rs909955430
|
0.00001
|
NM_002230.4(JUP):c.1815C>T (p.Ala605=)
|
rs543862977
|
0.00001
|
NM_002230.4(JUP):c.1854C>T (p.Ala618=)
|
rs782176670
|
0.00001
|
NM_002230.4(JUP):c.1868C>G (p.Ala623Gly)
|
rs782760341
|
0.00001
|
NM_002230.4(JUP):c.1873G>C (p.Gly625Arg)
|
rs1060502678
|
0.00001
|
NM_002230.4(JUP):c.1876G>A (p.Ala626Thr)
|
rs782547688
|
0.00001
|
NM_002230.4(JUP):c.1883C>T (p.Ala628Val)
|
rs1475273502
|
0.00001
|
NM_002230.4(JUP):c.1885C>T (p.Pro629Ser)
|
rs1188860546
|
0.00001
|
NM_002230.4(JUP):c.1916A>G (p.Glu639Gly)
|
rs1914057795
|
0.00001
|
NM_002230.4(JUP):c.1920C>T (p.Gly640=)
|
rs376699725
|
0.00001
|
NM_002230.4(JUP):c.192G>A (p.Gly64=)
|
rs141237794
|
0.00001
|
NM_002230.4(JUP):c.1990G>A (p.Val664Met)
|
rs782695128
|
0.00001
|
NM_002230.4(JUP):c.200C>T (p.Pro67Leu)
|
rs1427489722
|
0.00001
|
NM_002230.4(JUP):c.2060T>C (p.Ile687Thr)
|
rs1181838480
|
0.00001
|
NM_002230.4(JUP):c.2078A>G (p.Tyr693Cys)
|
rs782475413
|
0.00001
|
NM_002230.4(JUP):c.2084A>G (p.Asp695Gly)
|
rs781859850
|
0.00001
|
NM_002230.4(JUP):c.2087-5C>T
|
rs886052917
|
0.00001
|
NM_002230.4(JUP):c.2099C>T (p.Thr700Ile)
|
rs1913627808
|
0.00001
|
NM_002230.4(JUP):c.211G>T (p.Asp71Tyr)
|
rs781869872
|
0.00001
|
NM_002230.4(JUP):c.2132T>C (p.Leu711Pro)
|
rs782096012
|
0.00001
|
NM_002230.4(JUP):c.2149C>G (p.His717Asp)
|
rs1347008405
|
0.00001
|
NM_002230.4(JUP):c.2179G>A (p.Asp727Asn)
|
rs1285789744
|
0.00001
|
NM_002230.4(JUP):c.21G>C (p.Met7Ile)
|
rs782076076
|
0.00001
|
NM_002230.4(JUP):c.250C>T (p.Arg84Trp)
|
rs782306414
|
0.00001
|
NM_002230.4(JUP):c.251G>A (p.Arg84Gln)
|
rs782061304
|
0.00001
|
NM_002230.4(JUP):c.256C>T (p.Arg86Trp)
|
rs782240305
|
0.00001
|
NM_002230.4(JUP):c.266T>C (p.Met89Thr)
|
rs542745694
|
0.00001
|
NM_002230.4(JUP):c.285C>T (p.Gly95=)
|
rs1555605900
|
0.00001
|
NM_002230.4(JUP):c.296C>T (p.Ser99Leu)
|
rs554046226
|
0.00001
|
NM_002230.4(JUP):c.311C>A (p.Thr104Asn)
|
rs1185864978
|
0.00001
|
NM_002230.4(JUP):c.315G>C (p.Gln105His)
|
rs375489362
|
0.00001
|
NM_002230.4(JUP):c.335A>G (p.Asn112Ser)
|
rs372364561
|
0.00001
|
NM_002230.4(JUP):c.344G>A (p.Arg115Gln)
|
rs369722007
|
0.00001
|
NM_002230.4(JUP):c.374C>T (p.Ser125Leu)
|
rs782527770
|
0.00001
|
NM_002230.4(JUP):c.406G>A (p.Asp136Asn)
|
rs782392706
|
0.00001
|
NM_002230.4(JUP):c.424C>T (p.Arg142Cys)
|
rs199591001
|
0.00001
|
NM_002230.4(JUP):c.469-12T>C
|
rs782699765
|
0.00001
|
NM_002230.4(JUP):c.485C>T (p.Ala162Val)
|
rs369121094
|
0.00001
|
NM_002230.4(JUP):c.494T>C (p.Ile165Thr)
|
rs1254146503
|
0.00001
|
NM_002230.4(JUP):c.534C>T (p.Ala178=)
|
rs1916171269
|
0.00001
|
NM_002230.4(JUP):c.562G>A (p.Ala188Thr)
|
rs782585387
|
0.00001
|
NM_002230.4(JUP):c.571C>T (p.Arg191Cys)
|
rs781905238
|
0.00001
|
NM_002230.4(JUP):c.592G>A (p.Asp198Asn)
|
rs782799529
|
0.00001
|
NM_002230.4(JUP):c.601A>G (p.Thr201Ala)
|
rs781999758
|
0.00001
|
NM_002230.4(JUP):c.628C>T (p.His210Tyr)
|
rs1567818128
|
0.00001
|
NM_002230.4(JUP):c.647G>A (p.Arg216Gln)
|
rs782498980
|
0.00001
|
NM_002230.4(JUP):c.661G>A (p.Ala221Thr)
|
rs782076415
|
0.00001
|
NM_002230.4(JUP):c.674C>T (p.Ser225Leu)
|
rs782685734
|
0.00001
|
NM_002230.4(JUP):c.680G>A (p.Gly227Asp)
|
rs782010606
|
0.00001
|
NM_002230.4(JUP):c.697C>T (p.Arg233Cys)
|
rs529126058
|
0.00001
|
NM_002230.4(JUP):c.698G>A (p.Arg233His)
|
rs1304500107
|
0.00001
|
NM_002230.4(JUP):c.707+5C>A
|
rs375580484
|
0.00001
|
NM_002230.4(JUP):c.708-12C>G
|
rs781970079
|
0.00001
|
NM_002230.4(JUP):c.71C>T (p.Ser24Leu)
|
rs782460555
|
0.00001
|
NM_002230.4(JUP):c.764T>G (p.Leu255Arg)
|
rs878854482
|
0.00001
|
NM_002230.4(JUP):c.782A>G (p.Lys261Arg)
|
rs782527507
|
0.00001
|
NM_002230.4(JUP):c.788C>T (p.Ala263Val)
|
rs1287470595
|
0.00001
|
NM_002230.4(JUP):c.794G>A (p.Arg265His)
|
rs782440692
|
0.00001
|
NM_002230.4(JUP):c.818T>C (p.Met273Thr)
|
rs782091454
|
0.00001
|
NM_002230.4(JUP):c.849G>T (p.Lys283Asn)
|
rs794729054
|
0.00001
|
NM_002230.4(JUP):c.868G>A (p.Asp290Asn)
|
rs982161216
|
0.00001
|
NM_002230.4(JUP):c.884T>C (p.Leu295Pro)
|
rs1567815863
|
0.00001
|
NM_002230.4(JUP):c.88G>A (p.Ala30Thr)
|
rs782733459
|
0.00001
|
NM_002230.4(JUP):c.928G>A (p.Gly310Ser)
|
rs1597808505
|
0.00001
|
NM_002230.4(JUP):c.946G>A (p.Val316Met)
|
rs782285849
|
0.00001
|
NM_002230.4(JUP):c.950A>T (p.Gln317Leu)
|
rs782509792
|
0.00001
|
NM_002230.4(JUP):c.967A>G (p.Ser323Gly)
|
rs781857323
|
0.00001
|
NM_002230.4(JUP):c.997C>T (p.Arg333Cys)
|
rs782031185
|
0.00001
|
NM_004415.4(DSP):c.1012C>T (p.Leu338Phe)
|
rs774852168
|
0.00001
|
NM_004415.4(DSP):c.1016A>G (p.Asn339Ser)
|
rs746245682
|
0.00001
|
NM_004415.4(DSP):c.1045-3C>T
|
rs765077011
|
0.00001
|
NM_004415.4(DSP):c.1136T>C (p.Phe379Ser)
|
rs1064795084
|
0.00001
|
NM_004415.4(DSP):c.120G>A (p.Met40Ile)
|
rs1377575571
|
0.00001
|
NM_004415.4(DSP):c.1225A>T (p.Met409Leu)
|
rs890837021
|
0.00001
|
NM_004415.4(DSP):c.1262T>C (p.Leu421Pro)
|
rs763523373
|
0.00001
|
NM_004415.4(DSP):c.1268A>G (p.Lys423Arg)
|
rs1175321093
|
0.00001
|
NM_004415.4(DSP):c.1274G>A (p.Arg425Gln)
|
rs397516916
|
0.00001
|
NM_004415.4(DSP):c.1279A>G (p.Lys427Glu)
|
rs1430756602
|
0.00001
|
NM_004415.4(DSP):c.1283T>A (p.Ile428Asn)
|
rs760246407
|
0.00001
|
NM_004415.4(DSP):c.1291T>C (p.Tyr431His)
|
rs1039885114
|
0.00001
|
NM_004415.4(DSP):c.1297C>T (p.Arg433Cys)
|
rs767032884
|
0.00001
|
NM_004415.4(DSP):c.1323G>C (p.Lys441Asn)
|
rs1037212969
|
0.00001
|
NM_004415.4(DSP):c.1378C>G (p.Pro460Ala)
|
rs749422119
|
0.00001
|
NM_004415.4(DSP):c.1553T>G (p.Leu518Arg)
|
rs1758969230
|
0.00001
|
NM_004415.4(DSP):c.1564C>G (p.Leu522Val)
|
rs1230995902
|
0.00001
|
NM_004415.4(DSP):c.1574+3A>G
|
rs1231896749
|
0.00001
|
NM_004415.4(DSP):c.1671A>G (p.Ile557Met)
|
rs766505506
|
0.00001
|
NM_004415.4(DSP):c.1726T>C (p.Tyr576His)
|
rs1251859576
|
0.00001
|
NM_004415.4(DSP):c.1730T>C (p.Met577Thr)
|
rs141956992
|
0.00001
|
NM_004415.4(DSP):c.181A>G (p.Thr61Ala)
|
rs1380249575
|
0.00001
|
NM_004415.4(DSP):c.1901C>G (p.Thr634Arg)
|
rs139964486
|
0.00001
|
NM_004415.4(DSP):c.1960G>A (p.Val654Ile)
|
rs375629257
|
0.00001
|
NM_004415.4(DSP):c.2030G>A (p.Arg677Lys)
|
rs749238502
|
0.00001
|
NM_004415.4(DSP):c.2054G>C (p.Arg685Thr)
|
rs1212756552
|
0.00001
|
NM_004415.4(DSP):c.2081C>T (p.Ala694Val)
|
rs543446763
|
0.00001
|
NM_004415.4(DSP):c.2158G>T (p.Ala720Ser)
|
rs1180846023
|
0.00001
|
NM_004415.4(DSP):c.2192C>A (p.Ala731Asp)
|
rs1280322841
|
0.00001
|
NM_004415.4(DSP):c.2246T>C (p.Leu749Pro)
|
rs935504136
|
0.00001
|
NM_004415.4(DSP):c.2298-3C>T
|
rs1300722110
|
0.00001
|
NM_004415.4(DSP):c.2423G>A (p.Arg808His)
|
rs372906646
|
0.00001
|
NM_004415.4(DSP):c.2510A>C (p.Gln837Pro)
|
rs1202933658
|
0.00001
|
NM_004415.4(DSP):c.2550_2552dup (p.Leu851dup)
|
rs730880373
|
0.00001
|
NM_004415.4(DSP):c.2617C>G (p.Gln873Glu)
|
rs794728118
|
0.00001
|
NM_004415.4(DSP):c.2629A>C (p.Arg877=)
|
rs1581810753
|
0.00001
|
NM_004415.4(DSP):c.2630+3A>G
|
rs1174928581
|
0.00001
|
NM_004415.4(DSP):c.2689G>C (p.Ala897Pro)
|
rs1008407158
|
0.00001
|
NM_004415.4(DSP):c.273+3A>G
|
rs794728107
|
0.00001
|
NM_004415.4(DSP):c.2822G>A (p.Arg941Gln)
|
rs759869347
|
0.00001
|
NM_004415.4(DSP):c.2850T>G (p.Ile950Met)
|
rs727502999
|
0.00001
|
NM_004415.4(DSP):c.2858T>C (p.Leu953Pro)
|
rs745641212
|
0.00001
|
NM_004415.4(DSP):c.2872A>G (p.Ile958Val)
|
rs377116090
|
0.00001
|
NM_004415.4(DSP):c.2906C>T (p.Thr969Ile)
|
rs1265482489
|
0.00001
|
NM_004415.4(DSP):c.2924T>C (p.Leu975Pro)
|
rs1473895931
|
0.00001
|
NM_004415.4(DSP):c.2959T>A (p.Ser987Thr)
|
rs397516929
|
0.00001
|
NM_004415.4(DSP):c.2962C>T (p.Pro988Ser)
|
rs774742340
|
0.00001
|
NM_004415.4(DSP):c.2966C>T (p.Ser989Phe)
|
rs746346559
|
0.00001
|
NM_004415.4(DSP):c.2985G>A (p.Glu995=)
|
rs768858918
|
0.00001
|
NM_004415.4(DSP):c.2995G>A (p.Val999Ile)
|
rs1261418744
|
0.00001
|
NM_004415.4(DSP):c.2T>G (p.Met1Arg)
|
rs748738880
|
0.00001
|
NM_004415.4(DSP):c.3001G>T (p.Ala1001Ser)
|
rs1218975129
|
0.00001
|
NM_004415.4(DSP):c.3004C>T (p.Arg1002Trp)
|
rs772551736
|
0.00001
|
NM_004415.4(DSP):c.3025A>G (p.Arg1009Gly)
|
rs1413346143
|
0.00001
|
NM_004415.4(DSP):c.3059T>C (p.Met1020Thr)
|
rs773331618
|
0.00001
|
NM_004415.4(DSP):c.3067A>C (p.Ser1023Arg)
|
rs766388963
|
0.00001
|
NM_004415.4(DSP):c.3084G>A (p.Lys1028=)
|
rs964949139
|
0.00001
|
NM_004415.4(DSP):c.308G>A (p.Arg103Gln)
|
rs775015862
|
0.00001
|
NM_004415.4(DSP):c.314G>A (p.Arg105Gln)
|
rs762238621
|
0.00001
|
NM_004415.4(DSP):c.3277G>A (p.Ala1093Thr)
|
rs1185986064
|
0.00001
|
NM_004415.4(DSP):c.3379T>C (p.Ser1127Pro)
|
rs1581815458
|
0.00001
|
NM_004415.4(DSP):c.3550C>T (p.Arg1184Trp)
|
rs761331634
|
0.00001
|
NM_004415.4(DSP):c.3644A>G (p.Asn1215Ser)
|
rs777375223
|
0.00001
|
NM_004415.4(DSP):c.3649A>T (p.Thr1217Ser)
|
rs770484693
|
0.00001
|
NM_004415.4(DSP):c.364G>A (p.Asp122Asn)
|
rs756013600
|
0.00001
|
NM_004415.4(DSP):c.3680A>G (p.Gln1227Arg)
|
rs1458557680
|
0.00001
|
NM_004415.4(DSP):c.3742G>A (p.Asp1248Asn)
|
rs989348634
|
0.00001
|
NM_004415.4(DSP):c.3757A>C (p.Ile1253Leu)
|
rs924651718
|
0.00001
|
NM_004415.4(DSP):c.3820G>A (p.Ala1274Thr)
|
rs1285435504
|
0.00001
|
NM_004415.4(DSP):c.3838T>C (p.Cys1280Arg)
|
rs1473719755
|
0.00001
|
NM_004415.4(DSP):c.385C>T (p.Arg129Trp)
|
rs777763456
|
0.00001
|
NM_004415.4(DSP):c.38C>T (p.Thr13Ile)
|
rs201133637
|
0.00001
|
NM_004415.4(DSP):c.4046G>A (p.Ser1349Asn)
|
rs144465638
|
0.00001
|
NM_004415.4(DSP):c.4103C>T (p.Thr1368Ile)
|
rs530481219
|
0.00001
|
NM_004415.4(DSP):c.4112A>G (p.Asn1371Ser)
|
rs369649373
|
0.00001
|
NM_004415.4(DSP):c.4118C>T (p.Thr1373Ile)
|
rs762930286
|
0.00001
|
NM_004415.4(DSP):c.4142C>G (p.Thr1381Ser)
|
rs767174407
|
0.00001
|
NM_004415.4(DSP):c.4184T>A (p.Ile1395Lys)
|
rs1220191244
|
0.00001
|
NM_004415.4(DSP):c.423G>C (p.Arg141Ser)
|
rs771688614
|
0.00001
|
NM_004415.4(DSP):c.4303G>C (p.Ala1435Pro)
|
rs751972271
|
0.00001
|
NM_004415.4(DSP):c.4312T>C (p.Ser1438Pro)
|
rs1561698695
|
0.00001
|
NM_004415.4(DSP):c.431A>C (p.Gln144Pro)
|
rs768178768
|
0.00001
|
NM_004415.4(DSP):c.4358A>C (p.Gln1453Pro)
|
rs1464785832
|
0.00001
|
NM_004415.4(DSP):c.4457T>C (p.Leu1486Ser)
|
rs779863353
|
0.00001
|
NM_004415.4(DSP):c.4592A>C (p.Gln1531Pro)
|
rs1208037043
|
0.00001
|
NM_004415.4(DSP):c.4621G>A (p.Asp1541Asn)
|
rs750607476
|
0.00001
|
NM_004415.4(DSP):c.4625A>G (p.Tyr1542Cys)
|
rs1279142467
|
0.00001
|
NM_004415.4(DSP):c.4684T>C (p.Ser1562Pro)
|
rs1394590334
|
0.00001
|
NM_004415.4(DSP):c.4754C>T (p.Ser1585Leu)
|
rs773622004
|
0.00001
|
NM_004415.4(DSP):c.4841A>G (p.Asn1614Ser)
|
rs1759419529
|
0.00001
|
NM_004415.4(DSP):c.4862A>G (p.Gln1621Arg)
|
rs1226931552
|
0.00001
|
NM_004415.4(DSP):c.4916T>G (p.Val1639Gly)
|
rs1304994640
|
0.00001
|
NM_004415.4(DSP):c.5014C>G (p.Gln1672Glu)
|
rs786205416
|
0.00001
|
NM_004415.4(DSP):c.50T>G (p.Met17Arg)
|
rs559248100
|
0.00001
|
NM_004415.4(DSP):c.5120A>T (p.Gln1707Leu)
|
rs768870428
|
0.00001
|
NM_004415.4(DSP):c.5123C>T (p.Ser1708Phe)
|
rs372452104
|
0.00001
|
NM_004415.4(DSP):c.5153T>C (p.Leu1718Ser)
|
rs1278859783
|
0.00001
|
NM_004415.4(DSP):c.5186T>G (p.Leu1729Arg)
|
rs377344768
|
0.00001
|
NM_004415.4(DSP):c.5242A>G (p.Thr1748Ala)
|
rs1315952619
|
0.00001
|
NM_004415.4(DSP):c.5284C>T (p.Arg1762Trp)
|
rs766833113
|
0.00001
|
NM_004415.4(DSP):c.5396A>G (p.Gln1799Arg)
|
rs987386495
|
0.00001
|
NM_004415.4(DSP):c.5647T>C (p.Ser1883Pro)
|
rs1056652234
|
0.00001
|
NM_004415.4(DSP):c.5707C>A (p.Gln1903Lys)
|
rs794728103
|
0.00001
|
NM_004415.4(DSP):c.5752G>A (p.Glu1918Lys)
|
rs1352220803
|
0.00001
|
NM_004415.4(DSP):c.5779C>G (p.Gln1927Glu)
|
rs794728104
|
0.00001
|
NM_004415.4(DSP):c.582G>T (p.Trp194Cys)
|
rs1345570966
|
0.00001
|
NM_004415.4(DSP):c.5875T>C (p.Trp1959Arg)
|
rs1759501923
|
0.00001
|
NM_004415.4(DSP):c.5959G>A (p.Asp1987Asn)
|
rs759443302
|
0.00001
|
NM_004415.4(DSP):c.5984T>C (p.Leu1995Ser)
|
rs794728128
|
0.00001
|
NM_004415.4(DSP):c.599C>T (p.Ala200Val)
|
rs1337095425
|
0.00001
|
NM_004415.4(DSP):c.6002T>A (p.Val2001Glu)
|
rs926676669
|
0.00001
|
NM_004415.4(DSP):c.6059G>C (p.Gly2020Ala)
|
rs1327599046
|
0.00001
|
NM_004415.4(DSP):c.6137T>G (p.Val2046Gly)
|
rs746016404
|
0.00001
|
NM_004415.4(DSP):c.6141G>C (p.Met2047Ile)
|
rs374226658
|
0.00001
|
NM_004415.4(DSP):c.6233T>C (p.Ile2078Thr)
|
rs377035113
|
0.00001
|
NM_004415.4(DSP):c.6235G>C (p.Asp2079His)
|
rs992731463
|
0.00001
|
NM_004415.4(DSP):c.6259T>C (p.Tyr2087His)
|
rs780332266
|
0.00001
|
NM_004415.4(DSP):c.6325G>A (p.Glu2109Lys)
|
rs397516951
|
0.00001
|
NM_004415.4(DSP):c.6359C>T (p.Thr2120Ile)
|
rs1759528864
|
0.00001
|
NM_004415.4(DSP):c.6367C>T (p.Arg2123Cys)
|
rs372242085
|
0.00001
|
NM_004415.4(DSP):c.6403G>A (p.Val2135Ile)
|
rs1416815807
|
0.00001
|
NM_004415.4(DSP):c.6415A>G (p.Asn2139Asp)
|
rs762434061
|
0.00001
|
NM_004415.4(DSP):c.6547T>G (p.Tyr2183Asp)
|
rs763549172
|
0.00001
|
NM_004415.4(DSP):c.6587C>T (p.Thr2196Ile)
|
rs958098310
|
0.00001
|
NM_004415.4(DSP):c.6592C>G (p.Leu2198Val)
|
rs752057967
|
0.00001
|
NM_004415.4(DSP):c.664C>T (p.Arg222Trp)
|
rs1233981969
|
0.00001
|
NM_004415.4(DSP):c.6689C>T (p.Pro2230Leu)
|
rs759982048
|
0.00001
|
NM_004415.4(DSP):c.6733G>A (p.Glu2245Lys)
|
rs539763516
|
0.00001
|
NM_004415.4(DSP):c.677A>G (p.Asn226Ser)
|
rs921332894
|
0.00001
|
NM_004415.4(DSP):c.6859A>T (p.Thr2287Ser)
|
rs869025396
|
0.00001
|
NM_004415.4(DSP):c.6902T>C (p.Ile2301Thr)
|
rs772381363
|
0.00001
|
NM_004415.4(DSP):c.6947A>G (p.Tyr2316Cys)
|
rs765245807
|
0.00001
|
NM_004415.4(DSP):c.6956G>A (p.Gly2319Asp)
|
rs762943687
|
0.00001
|
NM_004415.4(DSP):c.695G>A (p.Arg232His)
|
rs749438581
|
0.00001
|
NM_004415.4(DSP):c.7162G>A (p.Val2388Ile)
|
rs370490538
|
0.00001
|
NM_004415.4(DSP):c.7172C>T (p.Ala2391Val)
|
rs879254351
|
0.00001
|
NM_004415.4(DSP):c.7193A>G (p.Asn2398Ser)
|
rs1251606363
|
0.00001
|
NM_004415.4(DSP):c.7279C>A (p.Leu2427Met)
|
rs555784793
|
0.00001
|
NM_004415.4(DSP):c.7341A>C (p.Lys2447Asn)
|
rs755448403
|
0.00001
|
NM_004415.4(DSP):c.7390C>T (p.Arg2464Cys)
|
rs778822920
|
0.00001
|
NM_004415.4(DSP):c.7433C>T (p.Ser2478Phe)
|
rs1759570987
|
0.00001
|
NM_004415.4(DSP):c.7451A>G (p.Lys2484Arg)
|
rs1346398330
|
0.00001
|
NM_004415.4(DSP):c.7501T>C (p.Cys2501Arg)
|
rs776405018
|
0.00001
|
NM_004415.4(DSP):c.7534G>T (p.Asp2512Tyr)
|
rs772574987
|
0.00001
|
NM_004415.4(DSP):c.764A>T (p.Tyr255Phe)
|
rs1490279963
|
0.00001
|
NM_004415.4(DSP):c.7694A>C (p.Asn2565Thr)
|
rs769572594
|
0.00001
|
NM_004415.4(DSP):c.7745T>G (p.Phe2582Cys)
|
rs751712837
|
0.00001
|
NM_004415.4(DSP):c.7778T>G (p.Ile2593Ser)
|
rs563272509
|
0.00001
|
NM_004415.4(DSP):c.7783A>G (p.Thr2595Ala)
|
rs1170072296
|
0.00001
|
NM_004415.4(DSP):c.7784C>T (p.Thr2595Ile)
|
rs772951950
|
0.00001
|
NM_004415.4(DSP):c.7810A>G (p.Ile2604Val)
|
rs1301635888
|
0.00001
|
NM_004415.4(DSP):c.7819A>G (p.Ser2607Gly)
|
rs1371480664
|
0.00001
|
NM_004415.4(DSP):c.7855A>G (p.Ile2619Val)
|
rs767630308
|
0.00001
|
NM_004415.4(DSP):c.7885G>A (p.Glu2629Lys)
|
rs756976948
|
0.00001
|
NM_004415.4(DSP):c.7994C>T (p.Thr2665Met)
|
rs151309106
|
0.00001
|
NM_004415.4(DSP):c.8014C>G (p.Gln2672Glu)
|
rs1064793890
|
0.00001
|
NM_004415.4(DSP):c.8015A>C (p.Gln2672Pro)
|
rs1060500612
|
0.00001
|
NM_004415.4(DSP):c.8032G>A (p.Gly2678Ser)
|
rs1371748682
|
0.00001
|
NM_004415.4(DSP):c.8050A>G (p.Met2684Val)
|
rs147801650
|
0.00001
|
NM_004415.4(DSP):c.8133G>T (p.Glu2711Asp)
|
rs375348086
|
0.00001
|
NM_004415.4(DSP):c.8137G>A (p.Val2713Met)
|
rs1219478425
|
0.00001
|
NM_004415.4(DSP):c.8159A>T (p.Tyr2720Phe)
|
rs367972703
|
0.00001
|
NM_004415.4(DSP):c.8162A>G (p.Glu2721Gly)
|
rs1324438820
|
0.00001
|
NM_004415.4(DSP):c.8210T>C (p.Val2737Ala)
|
rs794728155
|
0.00001
|
NM_004415.4(DSP):c.8216C>T (p.Pro2739Leu)
|
rs761527198
|
0.00001
|
NM_004415.4(DSP):c.8253C>G (p.Ile2751Met)
|
rs1165200201
|
0.00001
|
NM_004415.4(DSP):c.8330C>A (p.Pro2777His)
|
rs376273136
|
0.00001
|
NM_004415.4(DSP):c.8389A>G (p.Ile2797Val)
|
rs1040353645
|
0.00001
|
NM_004415.4(DSP):c.8404C>T (p.Leu2802Phe)
|
rs201271117
|
0.00001
|
NM_004415.4(DSP):c.844G>A (p.Glu282Lys)
|
rs397516966
|
0.00001
|
NM_004415.4(DSP):c.8476C>T (p.Arg2826Cys)
|
rs139969658
|
0.00001
|
NM_004415.4(DSP):c.8495G>T (p.Gly2832Val)
|
rs397516970
|
0.00001
|
NM_004415.4(DSP):c.8498C>G (p.Ser2833Cys)
|
rs767961179
|
0.00001
|
NM_004415.4(DSP):c.8566T>A (p.Ser2856Thr)
|
rs148550678
|
0.00001
|
NM_004415.4(DSP):c.8606T>C (p.Ile2869Thr)
|
rs1759656543
|
0.00001
|
NM_004415.4(DSP):c.917C>G (p.Ala306Gly)
|
rs1758833983
|
0.00001
|
NM_004415.4(DSP):c.946A>G (p.Met316Val)
|
rs201672777
|
0.00001
|
NM_004415.4(DSP):c.976C>T (p.Leu326Phe)
|
rs117961973
|
0.00001
|
NC_000006.11:g.(?_7542149)_(7542338_?)dup
|
|
|
NC_000006.11:g.(?_7542149)_(7880576_?)dup
|
|
|
NC_000006.11:g.(?_7579782)_(7581194_?)del
|
|
|
NC_000017.10:g.(?_39911986)_(39928116_?)dup
|
|
|
NM_002230.3(JUP):c.910_912dup (p.Leu304_Ile305insLeu)
|
rs1567812900
|
|
NM_002230.4(JUP):c.*1014C>T
|
rs1292357653
|
|
NM_002230.4(JUP):c.*1026G>A
|
rs187950810
|
|
NM_002230.4(JUP):c.*18C>T
|
rs200222165
|
|
NM_002230.4(JUP):c.*409C>G
|
rs1025065671
|
|
NM_002230.4(JUP):c.*497A>T
|
rs1913504384
|
|
NM_002230.4(JUP):c.*593C>T
|
rs1913479153
|
|
NM_002230.4(JUP):c.1000G>A (p.Val334Met)
|
|
|
NM_002230.4(JUP):c.1013T>C (p.Leu338Pro)
|
rs2143598327
|
|
NM_002230.4(JUP):c.1022G>A (p.Cys341Tyr)
|
rs1567812537
|
|
NM_002230.4(JUP):c.1028G>A (p.Ser343Asn)
|
rs1597808088
|
|
NM_002230.4(JUP):c.1036C>T (p.Pro346Ser)
|
|
|
NM_002230.4(JUP):c.1040C>T (p.Ala347Val)
|
rs1915466603
|
|
NM_002230.4(JUP):c.1046T>C (p.Val349Ala)
|
|
|
NM_002230.4(JUP):c.1049A>G (p.Glu350Gly)
|
rs1915464336
|
|
NM_002230.4(JUP):c.1054+3G>A
|
|
|
NM_002230.4(JUP):c.1055-3C>G
|
rs1597807473
|
|
NM_002230.4(JUP):c.1057G>A (p.Gly353Arg)
|
|
|
NM_002230.4(JUP):c.1072G>C (p.Gly358Arg)
|
rs1915435636
|
|
NM_002230.4(JUP):c.1082T>C (p.Leu361Pro)
|
rs2143593694
|
|
NM_002230.4(JUP):c.1085C>T (p.Thr362Ile)
|
rs1915432778
|
|
NM_002230.4(JUP):c.1088G>T (p.Ser363Ile)
|
rs2143593479
|
|
NM_002230.4(JUP):c.1096C>T (p.Pro366Ser)
|
|
|
NM_002230.4(JUP):c.1097C>T (p.Pro366Leu)
|
|
|
NM_002230.4(JUP):c.1099C>T (p.Arg367Cys)
|
|
|
NM_002230.4(JUP):c.1100G>A (p.Arg367His)
|
rs782067441
|
|
NM_002230.4(JUP):c.1129C>T (p.Arg377Cys)
|
rs368564000
|
|
NM_002230.4(JUP):c.1139C>T (p.Ser380Leu)
|
|
|
NM_002230.4(JUP):c.113GCA[1] (p.Ser39del)
|
rs113994176
|
|
NM_002230.4(JUP):c.113GCA[3] (p.Ser39dup)
|
rs113994176
|
|
NM_002230.4(JUP):c.114C>A (p.Ser38Arg)
|
rs782391511
|
|
NM_002230.4(JUP):c.1163G>A (p.Gly388Asp)
|
rs1555602470
|
|
NM_002230.4(JUP):c.1193A>G (p.Asn398Ser)
|
|
|
NM_002230.4(JUP):c.1207G>T (p.Asp403Tyr)
|
|
|
NM_002230.4(JUP):c.1212C>A (p.Asp404Glu)
|
rs1482026041
|
|
NM_002230.4(JUP):c.1218C>A (p.Asn406Lys)
|
|
|
NM_002230.4(JUP):c.121G>A (p.Gly41Ser)
|
|
|
NM_002230.4(JUP):c.122G>A (p.Gly41Asp)
|
|
|
NM_002230.4(JUP):c.1232C>T (p.Ala411Val)
|
rs1060502680
|
|
NM_002230.4(JUP):c.1241C>T (p.Thr414Ile)
|
|
|
NM_002230.4(JUP):c.1247C>T (p.Ser416Phe)
|
|
|
NM_002230.4(JUP):c.1268G>A (p.Ser423Asn)
|
|
|
NM_002230.4(JUP):c.127A>G (p.Met43Val)
|
rs1916678676
|
|
NM_002230.4(JUP):c.1283T>C (p.Leu428Pro)
|
|
|
NM_002230.4(JUP):c.129G>A (p.Met43Ile)
|
rs1555606996
|
|
NM_002230.4(JUP):c.1301G>A (p.Gly434Asp)
|
|
|
NM_002230.4(JUP):c.1306G>A (p.Glu436Lys)
|
rs1915172914
|
|
NM_002230.4(JUP):c.1312C>G (p.Leu438Val)
|
|
|
NM_002230.4(JUP):c.1318C>T (p.His440Tyr)
|
rs1555602228
|
|
NM_002230.4(JUP):c.1320T>A (p.His440Gln)
|
|
|
NM_002230.4(JUP):c.1322C>A (p.Ala441Asp)
|
|
|
NM_002230.4(JUP):c.1339G>A (p.Asp447Asn)
|
rs1915164389
|
|
NM_002230.4(JUP):c.133G>A (p.Glu45Lys)
|
|
|
NM_002230.4(JUP):c.1346A>G (p.Asp449Gly)
|
|
|
NM_002230.4(JUP):c.1346A>T (p.Asp449Val)
|
rs1174382765
|
|
NM_002230.4(JUP):c.1348G>A (p.Asp450Asn)
|
|
|
NM_002230.4(JUP):c.1351A>G (p.Ile451Val)
|
|
|
NM_002230.4(JUP):c.135G>C (p.Glu45Asp)
|
rs2143735253
|
|
NM_002230.4(JUP):c.1360C>T (p.Pro454Ser)
|
|
|
NM_002230.4(JUP):c.136G>T (p.Asp46Tyr)
|
|
|
NM_002230.4(JUP):c.1384C>T (p.Leu462Phe)
|
|
|
NM_002230.4(JUP):c.1393C>T (p.Arg465Cys)
|
|
|
NM_002230.4(JUP):c.1398C>A (p.His466Gln)
|
rs1555602097
|
|
NM_002230.4(JUP):c.1410G>C (p.Glu470Asp)
|
rs2143559758
|
|
NM_002230.4(JUP):c.1429C>T (p.Arg477Cys)
|
|
|
NM_002230.4(JUP):c.142G>C (p.Ala48Pro)
|
|
|
NM_002230.4(JUP):c.1432C>T (p.Leu478Phe)
|
|
|
NM_002230.4(JUP):c.143C>A (p.Ala48Asp)
|
rs2143735114
|
|
NM_002230.4(JUP):c.1442G>T (p.Gly481Val)
|
|
|
NM_002230.4(JUP):c.1455C>G (p.Ile485Met)
|
|
|
NM_002230.4(JUP):c.1469A>G (p.Asn490Ser)
|
|
|
NM_002230.4(JUP):c.1470C>G (p.Asn490Lys)
|
|
|
NM_002230.4(JUP):c.1481A>G (p.Gln494Arg)
|
rs2143558258
|
|
NM_002230.4(JUP):c.1482G>C (p.Gln494His)
|
rs1367975995
|
|
NM_002230.4(JUP):c.1495A>C (p.Lys499Gln)
|
rs782395614
|
|
NM_002230.4(JUP):c.1512G>T (p.Leu504Phe)
|
|
|
NM_002230.4(JUP):c.1525G>T (p.Ala509Ser)
|
rs1555599847
|
|
NM_002230.4(JUP):c.1534C>G (p.Pro512Ala)
|
|
|
NM_002230.4(JUP):c.1544A>G (p.His515Arg)
|
rs2143460147
|
|
NM_002230.4(JUP):c.1546G>A (p.Ala516Thr)
|
rs2143460021
|
|
NM_002230.4(JUP):c.1547C>A (p.Ala516Asp)
|
rs1255846046
|
|
NM_002230.4(JUP):c.1549C>T (p.Pro517Ser)
|
|
|
NM_002230.4(JUP):c.154C>A (p.Gln52Lys)
|
|
|
NM_002230.4(JUP):c.1556A>T (p.Gln519Leu)
|
rs1060502677
|
|
NM_002230.4(JUP):c.1563_1565dup (p.Ala522_Val523insAla)
|
|
|
NM_002230.4(JUP):c.1565C>A (p.Ala522Glu)
|
rs1060502679
|
|
NM_002230.4(JUP):c.1573C>T (p.Pro525Ser)
|
rs1914314355
|
|
NM_002230.4(JUP):c.1574C>T (p.Pro525Leu)
|
|
|
NM_002230.4(JUP):c.1576C>A (p.Arg526Ser)
|
rs782309611
|
|
NM_002230.4(JUP):c.1587A>G (p.Gln529=)
|
rs886052919
|
|
NM_002230.4(JUP):c.1597A>G (p.Lys533Glu)
|
|
|
NM_002230.4(JUP):c.1617G>A (p.Gln539=)
|
rs1012247750
|
|
NM_002230.4(JUP):c.1619G>A (p.Arg540His)
|
rs376881608
|
|
NM_002230.4(JUP):c.1622A>T (p.His541Leu)
|
rs782449369
|
|
NM_002230.4(JUP):c.1625T>C (p.Val542Ala)
|
rs2143457194
|
|
NM_002230.4(JUP):c.1634G>A (p.Gly545Asp)
|
|
|
NM_002230.4(JUP):c.1635C>T (p.Gly545=)
|
|
|
NM_002230.4(JUP):c.1642C>G (p.Gln548Glu)
|
|
|
NM_002230.4(JUP):c.1646C>A (p.Pro549His)
|
rs1555599683
|
|
NM_002230.4(JUP):c.1653+4T>A
|
|
|
NM_002230.4(JUP):c.1653+5G>C
|
|
|
NM_002230.4(JUP):c.1653G>T (p.Thr551=)
|
|
|
NM_002230.4(JUP):c.1654-7C>A
|
rs1395283149
|
|
NM_002230.4(JUP):c.1654G>A (p.Asp552Asn)
|
rs2143451579
|
|
NM_002230.4(JUP):c.1658G>C (p.Gly553Ala)
|
rs782759301
|
|
NM_002230.4(JUP):c.1658G>T (p.Gly553Val)
|
|
|
NM_002230.4(JUP):c.1688G>A (p.Cys563Tyr)
|
rs142006878
|
|
NM_002230.4(JUP):c.1694G>C (p.Gly565Ala)
|
|
|
NM_002230.4(JUP):c.1702C>T (p.His568Tyr)
|
rs794729048
|
|
NM_002230.4(JUP):c.1705A>C (p.Ile569Leu)
|
rs370101446
|
|
NM_002230.4(JUP):c.1705A>T (p.Ile569Phe)
|
rs370101446
|
|
NM_002230.4(JUP):c.1711G>A (p.Ala571Thr)
|
rs397517297
|
|
NM_002230.4(JUP):c.1711G>T (p.Ala571Ser)
|
rs397517297
|
|
NM_002230.4(JUP):c.1715G>T (p.Arg572Leu)
|
rs397517298
|
|
NM_002230.4(JUP):c.1717G>T (p.Asp573Tyr)
|
|
|
NM_002230.4(JUP):c.1718A>T (p.Asp573Val)
|
rs886052918
|
|
NM_002230.4(JUP):c.1725G>T (p.Met575Ile)
|
|
|
NM_002230.4(JUP):c.1738A>T (p.Ile580Phe)
|
|
|
NM_002230.4(JUP):c.1745G>A (p.Arg582Gln)
|
rs781828085
|
|
NM_002230.4(JUP):c.1759C>T (p.Pro587Ser)
|
|
|
NM_002230.4(JUP):c.1762C>G (p.Leu588Val)
|
|
|
NM_002230.4(JUP):c.1773+3G>A
|
rs1460748612
|
|
NM_002230.4(JUP):c.1774C>G (p.Leu592Val)
|
|
|
NM_002230.4(JUP):c.1778T>A (p.Leu593Gln)
|
|
|
NM_002230.4(JUP):c.1796A>G (p.Asn599Ser)
|
rs1257379135
|
|
NM_002230.4(JUP):c.1807G>A (p.Val603Met)
|
rs200327969
|
|
NM_002230.4(JUP):c.1816G>A (p.Gly606Arg)
|
|
|
NM_002230.4(JUP):c.1816G>C (p.Gly606Arg)
|
rs1371912642
|
|
NM_002230.4(JUP):c.1824G>A (p.Leu608=)
|
rs376043057
|
|
NM_002230.4(JUP):c.1825T>C (p.Cys609Arg)
|
|
|
NM_002230.4(JUP):c.1835C>G (p.Ala612Gly)
|
|
|
NM_002230.4(JUP):c.1842C>G (p.Asp614Glu)
|
rs2143427860
|
|
NM_002230.4(JUP):c.1849G>A (p.Ala617Thr)
|
rs397517299
|
|
NM_002230.4(JUP):c.185C>A (p.Thr62Asn)
|
rs1555606943
|
|
NM_002230.4(JUP):c.1870G>C (p.Glu624Gln)
|
rs2143426682
|
|
NM_002230.4(JUP):c.1871A>G (p.Glu624Gly)
|
rs1914071758
|
|
NM_002230.4(JUP):c.1876G>C (p.Ala626Pro)
|
rs782547688
|
|
NM_002230.4(JUP):c.188A>G (p.Gln63Arg)
|
|
|
NM_002230.4(JUP):c.1895A>G (p.Glu632Gly)
|
|
|
NM_002230.4(JUP):c.1910G>T (p.Arg637Leu)
|
|
|
NM_002230.4(JUP):c.1913A>C (p.Asn638Thr)
|
rs561484928
|
|
NM_002230.4(JUP):c.1914C>G (p.Asn638Lys)
|
|
|
NM_002230.4(JUP):c.1925-9T>A
|
rs2143420829
|
|
NM_002230.4(JUP):c.1927A>G (p.Thr643Ala)
|
rs2143420466
|
|
NM_002230.4(JUP):c.1927A>T (p.Thr643Ser)
|
rs2143420466
|
|
NM_002230.4(JUP):c.1934C>T (p.Ala645Val)
|
|
|
NM_002230.4(JUP):c.193G>A (p.Val65Met)
|
rs727503100
|
|
NM_002230.4(JUP):c.193G>T (p.Val65Leu)
|
rs727503100
|
|
NM_002230.4(JUP):c.1948T>C (p.Phe650Leu)
|
rs1208908708
|
|
NM_002230.4(JUP):c.1951C>T (p.Arg651Cys)
|
|
|
NM_002230.4(JUP):c.1954A>G (p.Ile652Val)
|
rs2143419427
|
|
NM_002230.4(JUP):c.1960G>A (p.Glu654Lys)
|
|
|
NM_002230.4(JUP):c.196C>T (p.Pro66Ser)
|
|
|
NM_002230.4(JUP):c.1972C>T (p.Pro658Ser)
|
|
|
NM_002230.4(JUP):c.1976A>G (p.Asp659Gly)
|
rs782124059
|
|
NM_002230.4(JUP):c.1979A>G (p.Tyr660Cys)
|
rs1555598672
|
|
NM_002230.4(JUP):c.197C>T (p.Pro66Leu)
|
|
|
NM_002230.4(JUP):c.1981C>T (p.Arg661Trp)
|
|
|
NM_002230.4(JUP):c.1987C>T (p.Arg663Cys)
|
|
|
NM_002230.4(JUP):c.1990G>C (p.Val664Leu)
|
rs782695128
|
|
NM_002230.4(JUP):c.1994C>T (p.Ser665Phe)
|
rs1555598615
|
|
NM_002230.4(JUP):c.1996G>T (p.Val666Leu)
|
rs372369061
|
|
NM_002230.4(JUP):c.1_6del (p.Met1_Glu2del)
|
rs1916704473
|
|
NM_002230.4(JUP):c.2002C>T (p.Leu668Phe)
|
|
|
NM_002230.4(JUP):c.2032G>A (p.Ala678Thr)
|
|
|
NM_002230.4(JUP):c.2035G>T (p.Ala679Ser)
|
|
|
NM_002230.4(JUP):c.2045C>T (p.Ala682Val)
|
|
|
NM_002230.4(JUP):c.2046T>C (p.Ala682=)
|
rs782632671
|
|
NM_002230.4(JUP):c.2055C>T (p.Ser685=)
|
rs1913708075
|
|
NM_002230.4(JUP):c.2073G>T (p.Glu691Asp)
|
rs1162219431
|
|
NM_002230.4(JUP):c.2078A>C (p.Tyr693Ser)
|
rs782475413
|
|
NM_002230.4(JUP):c.209-3del
|
rs560947371
|
|
NM_002230.4(JUP):c.209G>A (p.Gly70Asp)
|
|
|
NM_002230.4(JUP):c.2108C>G (p.Pro703Arg)
|
rs1008749253
|
|
NM_002230.4(JUP):c.2110A>G (p.Met704Val)
|
|
|
NM_002230.4(JUP):c.2112G>A (p.Met704Ile)
|
rs1555597505
|
|
NM_002230.4(JUP):c.2114A>T (p.Tyr705Phe)
|
|
|
NM_002230.4(JUP):c.2118dup (p.Ser707fs)
|
rs1913623011
|
|
NM_002230.4(JUP):c.2129C>A (p.Pro710His)
|
|
|
NM_002230.4(JUP):c.2137C>A (p.Pro713Thr)
|
rs1555597496
|
|
NM_002230.4(JUP):c.2138C>T (p.Pro713Leu)
|
|
|
NM_002230.4(JUP):c.2141T>C (p.Leu714Pro)
|
rs2143373822
|
|
NM_002230.4(JUP):c.2152A>G (p.Met718Val)
|
|
|
NM_002230.4(JUP):c.2156A>G (p.Asp719Gly)
|
rs1283154446
|
|
NM_002230.4(JUP):c.2158A>G (p.Met720Val)
|
|
|
NM_002230.4(JUP):c.2162A>G (p.Asp721Gly)
|
|
|
NM_002230.4(JUP):c.2185T>A (p.Tyr729Asn)
|
rs1555597428
|
|
NM_002230.4(JUP):c.2188A>G (p.Ser730Gly)
|
rs1009184280
|
|
NM_002230.4(JUP):c.2197C>T (p.Leu733Phe)
|
|
|
NM_002230.4(JUP):c.21G>A (p.Met7Ile)
|
rs782076076
|
|
NM_002230.4(JUP):c.2203C>T (p.Pro735Ser)
|
|
|
NM_002230.4(JUP):c.2204C>G (p.Pro735Arg)
|
rs782574785
|
|
NM_002230.4(JUP):c.2204C>T (p.Pro735Leu)
|
rs782574785
|
|
NM_002230.4(JUP):c.2215A>G (p.Thr739Ala)
|
|
|
NM_002230.4(JUP):c.2219C>T (p.Ala740Val)
|
|
|
NM_002230.4(JUP):c.2227A>G (p.Met743Val)
|
rs1913591137
|
|
NM_002230.4(JUP):c.2232G>A (p.Leu744=)
|
rs1913590161
|
|
NM_002230.4(JUP):c.226A>G (p.Met76Val)
|
rs782730235
|
|
NM_002230.4(JUP):c.228G>A (p.Met76Ile)
|
rs202091411
|
|
NM_002230.4(JUP):c.230C>T (p.Ser77Phe)
|
|
|
NM_002230.4(JUP):c.232A>G (p.Thr78Ala)
|
rs1916308035
|
|
NM_002230.4(JUP):c.238G>A (p.Ala80Thr)
|
|
|
NM_002230.4(JUP):c.248A>G (p.Lys83Arg)
|
|
|
NM_002230.4(JUP):c.250C>G (p.Arg84Gly)
|
rs782306414
|
|
NM_002230.4(JUP):c.253G>C (p.Val85Leu)
|
rs782425952
|
|
NM_002230.4(JUP):c.25C>G (p.Gln9Glu)
|
|
|
NM_002230.4(JUP):c.262_263delinsAA (p.Ala88Asn)
|
rs1916297521
|
|
NM_002230.4(JUP):c.266T>A (p.Met89Lys)
|
|
|
NM_002230.4(JUP):c.269G>T (p.Cys90Phe)
|
|
|
NM_002230.4(JUP):c.272C>T (p.Pro91Leu)
|
rs1567819889
|
|
NM_002230.4(JUP):c.275G>A (p.Gly92Asp)
|
rs782737074
|
|
NM_002230.4(JUP):c.278T>G (p.Val93Gly)
|
rs1916292032
|
|
NM_002230.4(JUP):c.289G>C (p.Asp97His)
|
rs2143696352
|
|
NM_002230.4(JUP):c.292A>G (p.Ser98Gly)
|
|
|
NM_002230.4(JUP):c.293G>A (p.Ser98Asn)
|
rs1555605891
|
|
NM_002230.4(JUP):c.298C>T (p.Leu100Phe)
|
rs1555605883
|
|
NM_002230.4(JUP):c.308C>G (p.Ala103Gly)
|
rs2143695852
|
|
NM_002230.4(JUP):c.315G>T (p.Gln105His)
|
|
|
NM_002230.4(JUP):c.328G>A (p.Ala110Thr)
|
rs1916275770
|
|
NM_002230.4(JUP):c.35A>G (p.Lys12Arg)
|
|
|
NM_002230.4(JUP):c.365T>C (p.Leu122Pro)
|
rs2143694308
|
|
NM_002230.4(JUP):c.375G>C (p.Ser125=)
|
rs111344340
|
|
NM_002230.4(JUP):c.379A>G (p.Ile127Val)
|
rs1205967739
|
|
NM_002230.4(JUP):c.389TCA[1] (p.Ile131del)
|
rs781818082
|
|
NM_002230.4(JUP):c.401A>T (p.Gln134Leu)
|
|
|
NM_002230.4(JUP):c.403G>C (p.Asp135His)
|
rs1555605721
|
|
NM_002230.4(JUP):c.406G>C (p.Asp136His)
|
rs782392706
|
|
NM_002230.4(JUP):c.406G>T (p.Asp136Tyr)
|
rs782392706
|
|
NM_002230.4(JUP):c.450_451delinsCA (p.Leu151Ile)
|
rs2143691917
|
|
NM_002230.4(JUP):c.455A>G (p.Asn152Ser)
|
rs1555605656
|
|
NM_002230.4(JUP):c.457G>A (p.Asp153Asn)
|
|
|
NM_002230.4(JUP):c.468+18C>G
|
|
|
NM_002230.4(JUP):c.468+4T>C
|
rs782412433
|
|
NM_002230.4(JUP):c.468G>A (p.Pro156=)
|
rs886037753
|
|
NM_002230.4(JUP):c.484G>A (p.Ala162Thr)
|
|
|
NM_002230.4(JUP):c.484G>T (p.Ala162Ser)
|
rs1555605437
|
|
NM_002230.4(JUP):c.487G>A (p.Ala163Thr)
|
rs782239920
|
|
NM_002230.4(JUP):c.49C>A (p.Gln17Lys)
|
|
|
NM_002230.4(JUP):c.500A>T (p.Asn167Ile)
|
rs2143684902
|
|
NM_002230.4(JUP):c.505C>G (p.Leu169Val)
|
rs1916178629
|
|
NM_002230.4(JUP):c.511AAG[1] (p.Lys172del)
|
rs2143684447
|
|
NM_002230.4(JUP):c.515A>G (p.Lys172Arg)
|
rs2143684482
|
|
NM_002230.4(JUP):c.519G>A (p.Glu173=)
|
rs1916176553
|
|
NM_002230.4(JUP):c.527G>T (p.Arg176Leu)
|
|
|
NM_002230.4(JUP):c.536T>A (p.Leu179Gln)
|
|
|
NM_002230.4(JUP):c.542G>T (p.Gly181Val)
|
rs1555605325
|
|
NM_002230.4(JUP):c.542_556dup (p.Gly181_Leu185dup)
|
rs1555605296
|
|
NM_002230.4(JUP):c.54G>C (p.Gln18His)
|
|
|
NM_002230.4(JUP):c.559G>A (p.Ala187Thr)
|
|
|
NM_002230.4(JUP):c.55A>G (p.Thr19Ala)
|
|
|
NM_002230.4(JUP):c.563C>G (p.Ala188Gly)
|
|
|
NM_002230.4(JUP):c.565G>C (p.Val189Leu)
|
|
|
NM_002230.4(JUP):c.568G>C (p.Val190Leu)
|
rs370143312
|
|
NM_002230.4(JUP):c.568G>T (p.Val190Leu)
|
rs370143312
|
|
NM_002230.4(JUP):c.579G>A (p.Met193Ile)
|
rs1916162051
|
|
NM_002230.4(JUP):c.593A>C (p.Asp198Ala)
|
rs1916158675
|
|
NM_002230.4(JUP):c.599A>C (p.Asp200Ala)
|
|
|
NM_002230.4(JUP):c.599A>G (p.Asp200Gly)
|
|
|
NM_002230.4(JUP):c.602C>T (p.Thr201Ile)
|
rs1916155693
|
|
NM_002230.4(JUP):c.605C>T (p.Ala202Val)
|
rs782337928
|
|
NM_002230.4(JUP):c.622A>G (p.Ile208Val)
|
|
|
NM_002230.4(JUP):c.626T>A (p.Leu209Gln)
|
|
|
NM_002230.4(JUP):c.631A>C (p.Asn211His)
|
|
|
NM_002230.4(JUP):c.631_633del (p.Asn211del)
|
rs1916151526
|
|
NM_002230.4(JUP):c.634C>G (p.Leu212Val)
|
|
|
NM_002230.4(JUP):c.643C>T (p.His215Tyr)
|
|
|
NM_002230.4(JUP):c.650A>G (p.Glu217Gly)
|
rs2143680736
|
|
NM_002230.4(JUP):c.652G>A (p.Gly218Arg)
|
rs1597823588
|
|
NM_002230.4(JUP):c.652G>C (p.Gly218Arg)
|
rs1597823588
|
|
NM_002230.4(JUP):c.664A>G (p.Ile222Val)
|
|
|
NM_002230.4(JUP):c.67G>A (p.Asp23Asn)
|
|
|
NM_002230.4(JUP):c.692T>C (p.Leu231Pro)
|
rs782109462
|
|
NM_002230.4(JUP):c.700A>G (p.Met234Val)
|
|
|
NM_002230.4(JUP):c.722C>T (p.Ser241Leu)
|
|
|
NM_002230.4(JUP):c.731T>C (p.Phe244Ser)
|
rs1915926866
|
|
NM_002230.4(JUP):c.73_88del (p.Gly25fs)
|
rs1916687478
|
|
NM_002230.4(JUP):c.743C>A (p.Thr248Asn)
|
|
|
NM_002230.4(JUP):c.745A>C (p.Thr249Pro)
|
rs2143652715
|
|
NM_002230.4(JUP):c.751C>T (p.His251Tyr)
|
|
|
NM_002230.4(JUP):c.754A>G (p.Asn252Asp)
|
rs1915923358
|
|
NM_002230.4(JUP):c.766T>C (p.Tyr256His)
|
rs1915921460
|
|
NM_002230.4(JUP):c.76A>C (p.Ile26Leu)
|
|
|
NM_002230.4(JUP):c.772G>C (p.Glu258Gln)
|
rs1915920461
|
|
NM_002230.4(JUP):c.790G>A (p.Val264Met)
|
|
|
NM_002230.4(JUP):c.796C>G (p.Leu266Val)
|
rs2143651347
|
|
NM_002230.4(JUP):c.805G>A (p.Gly269Arg)
|
rs1915915013
|
|
NM_002230.4(JUP):c.805G>C (p.Gly269Arg)
|
|
|
NM_002230.4(JUP):c.817A>T (p.Met273Leu)
|
rs2143650846
|
|
NM_002230.4(JUP):c.820G>A (p.Val274Met)
|
rs1555604537
|
|
NM_002230.4(JUP):c.839A>G (p.Asn280Ser)
|
|
|
NM_002230.4(JUP):c.83C>T (p.Ser28Leu)
|
rs782713414
|
|
NM_002230.4(JUP):c.856G>A (p.Ala286Thr)
|
rs1915907385
|
|
NM_002230.4(JUP):c.859A>G (p.Ile287Val)
|
rs1567815934
|
|
NM_002230.4(JUP):c.865_866delinsCT (p.Thr289Leu)
|
rs1915905294
|
|
NM_002230.4(JUP):c.871T>C (p.Cys291Arg)
|
rs2143649566
|
|
NM_002230.4(JUP):c.872G>A (p.Cys291Tyr)
|
rs1915903369
|
|
NM_002230.4(JUP):c.874C>G (p.Leu292Val)
|
rs1915903019
|
|
NM_002230.4(JUP):c.875T>C (p.Leu292Pro)
|
|
|
NM_002230.4(JUP):c.886G>T (p.Ala296Ser)
|
|
|
NM_002230.4(JUP):c.909+6C>A
|
|
|
NM_002230.4(JUP):c.909+6C>T
|
rs193922705
|
|
NM_002230.4(JUP):c.926A>T (p.Asn309Ile)
|
rs140606359
|
|
NM_002230.4(JUP):c.931G>A (p.Gly311Arg)
|
rs1915488679
|
|
NM_002230.4(JUP):c.941C>G (p.Ala314Gly)
|
rs201214805
|
|
NM_002230.4(JUP):c.947T>G (p.Val316Gly)
|
rs1915485566
|
|
NM_002230.4(JUP):c.952A>G (p.Ile318Val)
|
|
|
NM_002230.4(JUP):c.958C>A (p.Arg320Ser)
|
|
|
NM_002230.4(JUP):c.959G>A (p.Arg320His)
|
rs781965392
|
|
NM_002230.4(JUP):c.959G>T (p.Arg320Leu)
|
|
|
NM_002230.4(JUP):c.970T>A (p.Tyr324Asn)
|
|
|
NM_002230.4(JUP):c.970T>C (p.Tyr324His)
|
|
|
NM_002230.4(JUP):c.973G>A (p.Glu325Lys)
|
rs781974007
|
|
NM_002230.4(JUP):c.98G>T (p.Cys33Phe)
|
|
|
NM_002230.4(JUP):c.995G>A (p.Ser332Asn)
|
rs1915476254
|
|
NM_004415.4(DSP):c.-70C>T
|
rs1757982573
|
|
NM_004415.4(DSP):c.1027G>A (p.Ala343Thr)
|
|
|
NM_004415.4(DSP):c.1044+3A>C
|
rs765089914
|
|
NM_004415.4(DSP):c.1044+3A>G
|
rs765089914
|
|
NM_004415.4(DSP):c.1044+5G>T
|
|
|
NM_004415.4(DSP):c.1044G>A (p.Glu348=)
|
rs1758868593
|
|
NM_004415.4(DSP):c.1045G>C (p.Ala349Pro)
|
|
|
NM_004415.4(DSP):c.1052T>G (p.Met351Arg)
|
|
|
NM_004415.4(DSP):c.1054G>A (p.Asp352Asn)
|
|
|
NM_004415.4(DSP):c.1056_1061del (p.Asp352_Leu354delinsGlu)
|
rs1758892954
|
|
NM_004415.4(DSP):c.1058C>G (p.Thr353Ser)
|
|
|
NM_004415.4(DSP):c.1061T>C (p.Leu354Pro)
|
|
|
NM_004415.4(DSP):c.1061T>G (p.Leu354Arg)
|
|
|
NM_004415.4(DSP):c.1066A>G (p.Thr356Ala)
|
|
|
NM_004415.4(DSP):c.1066A>T (p.Thr356Ser)
|
rs1052446501
|
|
NM_004415.4(DSP):c.1067C>A (p.Thr356Lys)
|
rs780626687
|
|
NM_004415.4(DSP):c.1067C>T (p.Thr356Met)
|
rs780626687
|
|
NM_004415.4(DSP):c.1074G>C (p.Trp358Cys)
|
rs1758893971
|
|
NM_004415.4(DSP):c.1084C>T (p.Leu362Phe)
|
|
|
NM_004415.4(DSP):c.1094C>G (p.Thr365Ser)
|
rs754577019
|
|
NM_004415.4(DSP):c.1102A>G (p.Ile368Val)
|
rs794728112
|
|
NM_004415.4(DSP):c.110C>G (p.Thr37Ser)
|
|
|
NM_004415.4(DSP):c.1112A>C (p.His371Pro)
|
rs397516912
|
|
NM_004415.4(DSP):c.1112A>G (p.His371Arg)
|
rs397516912
|
|
NM_004415.4(DSP):c.1112A>T (p.His371Leu)
|
|
|
NM_004415.4(DSP):c.1115T>C (p.Leu372Pro)
|
rs1758895792
|
|
NM_004415.4(DSP):c.1135T>A (p.Phe379Ile)
|
rs757853478
|
|
NM_004415.4(DSP):c.1142T>C (p.Phe381Ser)
|
rs1209991251
|
|
NM_004415.4(DSP):c.1165G>A (p.Glu389Lys)
|
rs1758909720
|
|
NM_004415.4(DSP):c.1181G>C (p.Gly394Ala)
|
|
|
NM_004415.4(DSP):c.1184T>C (p.Leu395Pro)
|
|
|
NM_004415.4(DSP):c.1201A>G (p.Lys401Glu)
|
|
|
NM_004415.4(DSP):c.1216G>A (p.Asp406Asn)
|
rs1758911711
|
|
NM_004415.4(DSP):c.123_125dup (p.Tyr42_Ser43insTyr)
|
|
|
NM_004415.4(DSP):c.125A>G (p.Tyr42Cys)
|
|
|
NM_004415.4(DSP):c.1266+3A>G
|
|
|
NM_004415.4(DSP):c.1266+6G>A
|
rs73375345
|
|
NM_004415.4(DSP):c.1266G>C (p.Glu422Asp)
|
rs1758913797
|
|
NM_004415.4(DSP):c.1274G>T (p.Arg425Leu)
|
rs397516916
|
|
NM_004415.4(DSP):c.1282A>G (p.Ile428Val)
|
|
|
NM_004415.4(DSP):c.1308G>C (p.Gln436His)
|
rs1057522715
|
|
NM_004415.4(DSP):c.1310A>G (p.Asn437Ser)
|
rs2113674233
|
|
NM_004415.4(DSP):c.1331A>C (p.Lys444Thr)
|
rs1554106843
|
|
NM_004415.4(DSP):c.1333A>G (p.Ile445Val)
|
|
|
NM_004415.4(DSP):c.1335T>G (p.Ile445Met)
|
rs898213877
|
|
NM_004415.4(DSP):c.133C>T (p.Arg45Cys)
|
|
|
NM_004415.4(DSP):c.1350_1351insTTA (p.Pro450_Arg451insLeu)
|
rs1581802595
|
|
NM_004415.4(DSP):c.1351C>T (p.Arg451Cys)
|
rs1057518309
|
|
NM_004415.4(DSP):c.1352G>A (p.Arg451His)
|
rs786204294
|
|
NM_004415.4(DSP):c.1352G>C (p.Arg451Pro)
|
|
|
NM_004415.4(DSP):c.1357C>A (p.Pro453Thr)
|
|
|
NM_004415.4(DSP):c.1372A>T (p.Asn458Tyr)
|
|
|
NM_004415.4(DSP):c.1382T>C (p.Ile461Thr)
|
rs1554106853
|
|
NM_004415.4(DSP):c.1392A>C (p.Arg464Ser)
|
rs1403332231
|
|
NM_004415.4(DSP):c.1396C>T (p.Leu466Phe)
|
|
|
NM_004415.4(DSP):c.1397T>C (p.Leu466Pro)
|
rs727504661
|
|
NM_004415.4(DSP):c.1414G>A (p.Asp472Asn)
|
rs2113674467
|
|
NM_004415.4(DSP):c.1420-3C>T
|
rs786204296
|
|
NM_004415.4(DSP):c.1435G>C (p.Gly479Arg)
|
rs1288305110
|
|
NM_004415.4(DSP):c.1441G>A (p.Glu481Lys)
|
rs1758958794
|
|
NM_004415.4(DSP):c.1444T>C (p.Cys482Arg)
|
rs746816016
|
|
NM_004415.4(DSP):c.1445G>A (p.Cys482Tyr)
|
rs1472091469
|
|
NM_004415.4(DSP):c.1460A>G (p.Asn487Ser)
|
|
|
NM_004415.4(DSP):c.1483G>T (p.Val495Leu)
|
rs372014020
|
|
NM_004415.4(DSP):c.1483_1485delinsTTT (p.Val495Phe)
|
rs1064795582
|
|
NM_004415.4(DSP):c.1484T>G (p.Val495Gly)
|
rs727504518
|
|
NM_004415.4(DSP):c.1487C>G (p.Thr496Arg)
|
rs374283517
|
|
NM_004415.4(DSP):c.1492C>G (p.Pro498Ala)
|
rs1581803474
|
|
NM_004415.4(DSP):c.1492C>T (p.Pro498Ser)
|
rs1581803474
|
|
NM_004415.4(DSP):c.14G>C (p.Gly5Ala)
|
rs1757989474
|
|
NM_004415.4(DSP):c.1504G>A (p.Asp502Asn)
|
rs750547425
|
|
NM_004415.4(DSP):c.1509G>A (p.Met503Ile)
|
|
|
NM_004415.4(DSP):c.1513G>A (p.Val505Ile)
|
|
|
NM_004415.4(DSP):c.1529T>C (p.Leu510Pro)
|
rs2113675644
|
|
NM_004415.4(DSP):c.1548C>G (p.Asn516Lys)
|
rs1407207091
|
|
NM_004415.4(DSP):c.1555G>T (p.Ala519Ser)
|
rs2113675699
|
|
NM_004415.4(DSP):c.1556C>T (p.Ala519Val)
|
rs1395532173
|
|
NM_004415.4(DSP):c.1558G>T (p.Val520Leu)
|
rs777545428
|
|
NM_004415.4(DSP):c.1561G>A (p.Asp521Asn)
|
rs1449447405
|
|
NM_004415.4(DSP):c.1565T>C (p.Leu522Pro)
|
rs955640904
|
|
NM_004415.4(DSP):c.1574+5G>A
|
rs2113675801
|
|
NM_004415.4(DSP):c.1574A>G (p.Lys525Arg)
|
|
|
NM_004415.4(DSP):c.1575-4_1575-3del
|
rs1759008080
|
|
NM_004415.4(DSP):c.1577T>C (p.Ile526Thr)
|
rs1561689358
|
|
NM_004415.4(DSP):c.158C>T (p.Ser53Leu)
|
rs1398517175
|
|
NM_004415.4(DSP):c.1603G>C (p.Ala535Pro)
|
rs777088675
|
|
NM_004415.4(DSP):c.1615C>A (p.Gln539Lys)
|
rs727504498
|
|
NM_004415.4(DSP):c.1619T>C (p.Leu540Pro)
|
|
|
NM_004415.4(DSP):c.1624A>G (p.Ile542Val)
|
rs2113677376
|
|
NM_004415.4(DSP):c.162C>G (p.Asp54Glu)
|
|
|
NM_004415.4(DSP):c.1660A>G (p.Met554Val)
|
|
|
NM_004415.4(DSP):c.1670T>C (p.Ile557Thr)
|
rs1759012793
|
|
NM_004415.4(DSP):c.1675A>G (p.Lys559Glu)
|
|
|
NM_004415.4(DSP):c.169T>C (p.Cys57Arg)
|
|
|
NM_004415.4(DSP):c.170+15G>A
|
|
|
NM_004415.4(DSP):c.170+2dup
|
rs2113629250
|
|
NM_004415.4(DSP):c.170+5G>A
|
rs727502996
|
|
NM_004415.4(DSP):c.170+5G>C
|
rs727502996
|
|
NM_004415.4(DSP):c.170+5del
|
rs1554104240
|
|
NM_004415.4(DSP):c.170+5dup
|
|
|
NM_004415.4(DSP):c.1700A>G (p.Lys567Arg)
|
rs2113677553
|
|
NM_004415.4(DSP):c.1702-13T>A
|
rs771235236
|
|
NM_004415.4(DSP):c.1702-16_1702-15delinsCT
|
|
|
NM_004415.4(DSP):c.171-3dup
|
rs1554105600
|
|
NM_004415.4(DSP):c.1711A>G (p.Met571Val)
|
|
|
NM_004415.4(DSP):c.1712T>C (p.Met571Thr)
|
|
|
NM_004415.4(DSP):c.1729A>C (p.Met577Leu)
|
rs764127243
|
|
NM_004415.4(DSP):c.1737_1738delinsTT (p.Ile580Leu)
|
|
|
NM_004415.4(DSP):c.1775G>T (p.Arg592Ile)
|
rs1759048949
|
|
NM_004415.4(DSP):c.178G>A (p.Gly60Ser)
|
rs982933033
|
|
NM_004415.4(DSP):c.17G>C (p.Gly6Ala)
|
rs1339636876
|
|
NM_004415.4(DSP):c.1815_1820dup (p.Lys607_Ile608insArgLys)
|
|
|
NM_004415.4(DSP):c.1847A>G (p.Gln616Arg)
|
|
|
NM_004415.4(DSP):c.1852C>T (p.His618Tyr)
|
|
|
NM_004415.4(DSP):c.1865T>G (p.Leu622Arg)
|
rs1554107098
|
|
NM_004415.4(DSP):c.186G>A (p.Met62Ile)
|
rs1758488135
|
|
NM_004415.4(DSP):c.1870A>G (p.Ile624Val)
|
rs1759053122
|
|
NM_004415.4(DSP):c.1873C>G (p.Gln625Glu)
|
rs876657638
|
|
NM_004415.4(DSP):c.1880C>T (p.Pro627Leu)
|
rs2113679213
|
|
NM_004415.4(DSP):c.1901C>A (p.Thr634Lys)
|
rs139964486
|
|
NM_004415.4(DSP):c.1901C>T (p.Thr634Ile)
|
|
|
NM_004415.4(DSP):c.1902A>G (p.Thr634=)
|
rs1759054491
|
|
NM_004415.4(DSP):c.1903+11G>T
|
|
|
NM_004415.4(DSP):c.1903+3C>T
|
rs754326012
|
|
NM_004415.4(DSP):c.1903+3del
|
rs1064793548
|
|
NM_004415.4(DSP):c.1904T>C (p.Val635Ala)
|
|
|
NM_004415.4(DSP):c.1913C>T (p.Thr638Ile)
|
|
|
NM_004415.4(DSP):c.1945G>A (p.Val649Ile)
|
rs2113679772
|
|
NM_004415.4(DSP):c.194A>G (p.His65Arg)
|
rs771190708
|
|
NM_004415.4(DSP):c.194A>T (p.His65Leu)
|
rs771190708
|
|
NM_004415.4(DSP):c.1950C>A (p.Asn650Lys)
|
|
|
NM_004415.4(DSP):c.1963A>G (p.Ile655Val)
|
|
|
NM_004415.4(DSP):c.1964T>A (p.Ile655Asn)
|
|
|
NM_004415.4(DSP):c.1968A>T (p.Glu656Asp)
|
rs2113679857
|
|
NM_004415.4(DSP):c.1970C>A (p.Thr657Asn)
|
|
|
NM_004415.4(DSP):c.1970C>T (p.Thr657Ile)
|
rs1014373689
|
|
NM_004415.4(DSP):c.1975A>G (p.Arg659Gly)
|
|
|
NM_004415.4(DSP):c.1976_1987del (p.Arg659_Asp662del)
|
rs1554107128
|
|
NM_004415.4(DSP):c.1985A>G (p.Asp662Gly)
|
|
|
NM_004415.4(DSP):c.1993G>A (p.Glu665Lys)
|
rs2113679925
|
|
NM_004415.4(DSP):c.1996A>G (p.Thr666Ala)
|
|
|
NM_004415.4(DSP):c.2002A>T (p.Met668Leu)
|
|
|
NM_004415.4(DSP):c.2006T>C (p.Leu669Pro)
|
|
|
NM_004415.4(DSP):c.2012A>G (p.Glu671Gly)
|
rs758530970
|
|
NM_004415.4(DSP):c.201C>A (p.Asn67Lys)
|
|
|
NM_004415.4(DSP):c.2023A>T (p.Ile675Phe)
|
rs142619902
|
|
NM_004415.4(DSP):c.2042A>G (p.His681Arg)
|
|
|
NM_004415.4(DSP):c.2047G>C (p.Glu683Gln)
|
|
|
NM_004415.4(DSP):c.2050G>T (p.Gly684Cys)
|
rs1759071281
|
|
NM_004415.4(DSP):c.2055G>T (p.Arg685Ser)
|
|
|
NM_004415.4(DSP):c.2075C>T (p.Pro692Leu)
|
rs1561690890
|
|
NM_004415.4(DSP):c.2080G>A (p.Ala694Thr)
|
rs2113680169
|
|
NM_004415.4(DSP):c.2084A>G (p.Asp695Gly)
|
rs2113680188
|
|
NM_004415.4(DSP):c.20C>T (p.Ser7Phe)
|
|
|
NM_004415.4(DSP):c.2107A>G (p.Thr703Ala)
|
|
|
NM_004415.4(DSP):c.2119A>G (p.Asn707Asp)
|
rs756272327
|
|
NM_004415.4(DSP):c.2135T>C (p.Val712Ala)
|
rs2113682966
|
|
NM_004415.4(DSP):c.2139G>T (p.Gln713His)
|
|
|
NM_004415.4(DSP):c.2146T>G (p.Ser716Ala)
|
rs1759149630
|
|
NM_004415.4(DSP):c.2153C>T (p.Ala718Val)
|
rs764290255
|
|
NM_004415.4(DSP):c.2161G>A (p.Glu721Lys)
|
rs963374775
|
|
NM_004415.4(DSP):c.2164G>T (p.Val722Phe)
|
rs1581808686
|
|
NM_004415.4(DSP):c.2176C>G (p.Leu726Val)
|
rs1759151851
|
|
NM_004415.4(DSP):c.2188C>T (p.Leu730Phe)
|
rs2113683126
|
|
NM_004415.4(DSP):c.2196C>G (p.Asn732Lys)
|
rs1424884336
|
|
NM_004415.4(DSP):c.2197T>C (p.Phe733Leu)
|
|
|
NM_004415.4(DSP):c.2199C>G (p.Phe733Leu)
|
rs1306942907
|
|
NM_004415.4(DSP):c.2201G>A (p.Arg734Lys)
|
rs1561692443
|
|
NM_004415.4(DSP):c.2204G>A (p.Gly735Asp)
|
|
|
NM_004415.4(DSP):c.2204G>T (p.Gly735Val)
|
rs1759154089
|
|
NM_004415.4(DSP):c.2234A>C (p.Glu745Ala)
|
rs969462343
|
|
NM_004415.4(DSP):c.2275G>T (p.Val759Phe)
|
|
|
NM_004415.4(DSP):c.227A>G (p.Gln76Arg)
|
rs1581790962
|
|
NM_004415.4(DSP):c.2297+5A>G
|
|
|
NM_004415.4(DSP):c.2301A>C (p.Leu767Phe)
|
rs1759176601
|
|
NM_004415.4(DSP):c.2314G>C (p.Ala772Pro)
|
rs766440842
|
|
NM_004415.4(DSP):c.2317C>G (p.Leu773Val)
|
|
|
NM_004415.4(DSP):c.2321T>A (p.Leu774His)
|
|
|
NM_004415.4(DSP):c.232T>G (p.Cys78Gly)
|
rs1758490063
|
|
NM_004415.4(DSP):c.2333T>C (p.Leu778Pro)
|
rs1337668206
|
|
NM_004415.4(DSP):c.2338A>G (p.Thr780Ala)
|
|
|
NM_004415.4(DSP):c.2344G>T (p.Asp782Tyr)
|
rs2113684062
|
|
NM_004415.4(DSP):c.2360A>C (p.Tyr787Ser)
|
rs778350289
|
|
NM_004415.4(DSP):c.238G>A (p.Asp80Asn)
|
rs1453492594
|
|
NM_004415.4(DSP):c.2404G>A (p.Asp802Asn)
|
rs770105310
|
|
NM_004415.4(DSP):c.2404G>C (p.Asp802His)
|
|
|
NM_004415.4(DSP):c.2408A>C (p.Lys803Thr)
|
rs1759183296
|
|
NM_004415.4(DSP):c.2411T>C (p.Val804Ala)
|
|
|
NM_004415.4(DSP):c.242G>T (p.Cys81Phe)
|
rs140965835
|
|
NM_004415.4(DSP):c.2432T>C (p.Leu811Pro)
|
rs869025391
|
|
NM_004415.4(DSP):c.2432T>G (p.Leu811Arg)
|
rs869025391
|
|
NM_004415.4(DSP):c.2435A>T (p.Lys812Met)
|
rs1268969488
|
|
NM_004415.4(DSP):c.2436+6T>C
|
|
|
NM_004415.4(DSP):c.2436G>A (p.Lys812=)
|
|
|
NM_004415.4(DSP):c.2437A>C (p.Lys813Gln)
|
rs1395903631
|
|
NM_004415.4(DSP):c.2437A>G (p.Lys813Glu)
|
rs1395903631
|
|
NM_004415.4(DSP):c.2441T>C (p.Ile814Thr)
|
rs1393048121
|
|
NM_004415.4(DSP):c.248T>C (p.Met83Thr)
|
rs2113653951
|
|
NM_004415.4(DSP):c.2504C>T (p.Ala835Val)
|
|
|
NM_004415.4(DSP):c.2507A>G (p.Gln836Arg)
|
rs1554107616
|
|
NM_004415.4(DSP):c.250C>G (p.Arg84Gly)
|
rs768521444
|
|
NM_004415.4(DSP):c.2511G>C (p.Gln837His)
|
rs2113685122
|
|
NM_004415.4(DSP):c.2548G>A (p.Asp850Asn)
|
rs1554107626
|
|
NM_004415.4(DSP):c.2564A>T (p.Lys855Met)
|
rs2113685253
|
|
NM_004415.4(DSP):c.2570G>A (p.Gly857Asp)
|
|
|
NM_004415.4(DSP):c.2572G>A (p.Glu858Lys)
|
rs1759209717
|
|
NM_004415.4(DSP):c.2582C>T (p.Thr861Ile)
|
rs1759210367
|
|
NM_004415.4(DSP):c.2596C>A (p.Arg866Ser)
|
rs142429411
|
|
NM_004415.4(DSP):c.2606G>A (p.Arg869Lys)
|
|
|
NM_004415.4(DSP):c.2608A>T (p.Ile870Leu)
|
rs1561693971
|
|
NM_004415.4(DSP):c.2611G>A (p.Asp871Asn)
|
|
|
NM_004415.4(DSP):c.2623G>A (p.Asp875Asn)
|
rs200338012
|
|
NM_004415.4(DSP):c.2628T>G (p.Phe876Leu)
|
|
|
NM_004415.4(DSP):c.262A>G (p.Ile88Val)
|
rs1581791030
|
|
NM_004415.4(DSP):c.2630+5G>C
|
|
|
NM_004415.4(DSP):c.2631-13dup
|
rs1455610668
|
|
NM_004415.4(DSP):c.2631-3C>T
|
rs1041054817
|
|
NM_004415.4(DSP):c.2631-6C>G
|
rs1759237205
|
|
NM_004415.4(DSP):c.2650C>G (p.Gln884Glu)
|
|
|
NM_004415.4(DSP):c.2665A>G (p.Arg889Gly)
|
|
|
NM_004415.4(DSP):c.2680A>T (p.Asn894Tyr)
|
rs1060500614
|
|
NM_004415.4(DSP):c.2695T>C (p.Cys899Arg)
|
rs2113686590
|
|
NM_004415.4(DSP):c.2700G>T (p.Lys900Asn)
|
|
|
NM_004415.4(DSP):c.2703G>T (p.Trp901Cys)
|
rs1057519251
|
|
NM_004415.4(DSP):c.2704C>T (p.Leu902Phe)
|
rs1443682154
|
|
NM_004415.4(DSP):c.273+10_273+11insGTGCAG
|
|
|
NM_004415.4(DSP):c.274-8_274-7delinsAT
|
rs1561680554
|
|
NM_004415.4(DSP):c.2744T>A (p.Met915Lys)
|
rs750869761
|
|
NM_004415.4(DSP):c.2758T>C (p.Ser920Pro)
|
rs373804924
|
|
NM_004415.4(DSP):c.2759C>T (p.Ser920Phe)
|
rs1481929065
|
|
NM_004415.4(DSP):c.2772G>T (p.Met924Ile)
|
|
|
NM_004415.4(DSP):c.2777T>C (p.Phe926Ser)
|
|
|
NM_004415.4(DSP):c.2789A>C (p.Gln930Pro)
|
|
|
NM_004415.4(DSP):c.2790G>C (p.Gln930His)
|
rs2113686814
|
|
NM_004415.4(DSP):c.2794-17T>G
|
|
|
NM_004415.4(DSP):c.279G>C (p.Leu93Phe)
|
rs1447901875
|
|
NM_004415.4(DSP):c.2818A>G (p.Lys940Glu)
|
rs2113687560
|
|
NM_004415.4(DSP):c.2821C>G (p.Arg941Gly)
|
rs730880082
|
|
NM_004415.4(DSP):c.2825A>T (p.Asp942Val)
|
|
|
NM_004415.4(DSP):c.284A>T (p.Tyr95Phe)
|
|
|
NM_004415.4(DSP):c.2867A>G (p.Asn956Ser)
|
|
|
NM_004415.4(DSP):c.286G>A (p.Gly96Arg)
|
rs2113657461
|
|
NM_004415.4(DSP):c.2877+6T>A
|
rs1331983690
|
|
NM_004415.4(DSP):c.2879A>G (p.Asp960Gly)
|
|
|
NM_004415.4(DSP):c.2887C>T (p.Leu963Phe)
|
rs779931043
|
|
NM_004415.4(DSP):c.2893C>G (p.Leu965Val)
|
rs1239813518
|
|
NM_004415.4(DSP):c.2894T>C (p.Leu965Pro)
|
rs1581813405
|
|
NM_004415.4(DSP):c.289G>A (p.Asp97Asn)
|
|
|
NM_004415.4(DSP):c.2932A>G (p.Ile978Val)
|
rs780823789
|
|
NM_004415.4(DSP):c.2936C>G (p.Pro979Arg)
|
rs1759288530
|
|
NM_004415.4(DSP):c.2948C>T (p.Thr983Ile)
|
rs1040862892
|
|
NM_004415.4(DSP):c.2950A>G (p.Met984Val)
|
rs868110541
|
|
NM_004415.4(DSP):c.2963C>T (p.Pro988Leu)
|
rs2113689067
|
|
NM_004415.4(DSP):c.2986-3A>C
|
|
|
NM_004415.4(DSP):c.2986G>T (p.Ala996Ser)
|
rs1254054471
|
|
NM_004415.4(DSP):c.2990C>T (p.Ala997Val)
|
|
|
NM_004415.4(DSP):c.2998_3012del (p.His1000_Ile1004del)
|
|
|
NM_004415.4(DSP):c.3005G>C (p.Arg1002Pro)
|
rs371234425
|
|
NM_004415.4(DSP):c.3010A>G (p.Ile1004Val)
|
rs1561696251
|
|
NM_004415.4(DSP):c.3019C>T (p.Leu1007Phe)
|
rs1018173692
|
|
NM_004415.4(DSP):c.3023C>T (p.Thr1008Ile)
|
rs1334187363
|
|
NM_004415.4(DSP):c.3026G>T (p.Arg1009Ile)
|
rs1759318084
|
|
NM_004415.4(DSP):c.3046T>G (p.Phe1016Val)
|
rs1561696335
|
|
NM_004415.4(DSP):c.304A>C (p.Thr102Pro)
|
|
|
NM_004415.4(DSP):c.3068G>A (p.Ser1023Asn)
|
rs2113690096
|
|
NM_004415.4(DSP):c.3070T>G (p.Leu1024Val)
|
rs1474315262
|
|
NM_004415.4(DSP):c.307C>G (p.Arg103Gly)
|
|
|
NM_004415.4(DSP):c.3080T>C (p.Leu1027Pro)
|
|
|
NM_004415.4(DSP):c.3102C>G (p.Ile1034Met)
|
rs569974617
|
|
NM_004415.4(DSP):c.3103G>A (p.Glu1035Lys)
|
rs760307890
|
|
NM_004415.4(DSP):c.3134G>C (p.Arg1045Pro)
|
rs374263890
|
|
NM_004415.4(DSP):c.3140C>T (p.Ala1047Val)
|
rs397516931
|
|
NM_004415.4(DSP):c.3144C>G (p.Asn1048Lys)
|
|
|
NM_004415.4(DSP):c.3157A>G (p.Asn1053Asp)
|
|
|
NM_004415.4(DSP):c.3163A>G (p.Asn1055Asp)
|
|
|
NM_004415.4(DSP):c.3184C>A (p.Leu1062Met)
|
rs2113691218
|
|
NM_004415.4(DSP):c.3190A>G (p.Lys1064Glu)
|
rs1383448057
|
|
NM_004415.4(DSP):c.31A>G (p.Ile11Val)
|
|
|
NM_004415.4(DSP):c.3230C>T (p.Ala1077Val)
|
rs1257696096
|
|
NM_004415.4(DSP):c.3238G>A (p.Glu1080Lys)
|
rs1759345464
|
|
NM_004415.4(DSP):c.3243G>T (p.Glu1081Asp)
|
|
|
NM_004415.4(DSP):c.3259G>A (p.Glu1087Lys)
|
rs1561697118
|
|
NM_004415.4(DSP):c.3263T>C (p.Leu1088Pro)
|
|
|
NM_004415.4(DSP):c.328T>C (p.Cys110Arg)
|
rs1554105823
|
|
NM_004415.4(DSP):c.3296A>G (p.Lys1099Arg)
|
|
|
NM_004415.4(DSP):c.3298T>C (p.Cys1100Arg)
|
rs757539604
|
|
NM_004415.4(DSP):c.3298T>G (p.Cys1100Gly)
|
rs757539604
|
|
NM_004415.4(DSP):c.3310A>C (p.Ile1104Leu)
|
|
|
NM_004415.4(DSP):c.3310A>T (p.Ile1104Leu)
|
rs2113691466
|
|
NM_004415.4(DSP):c.3312A>G (p.Ile1104Met)
|
|
|
NM_004415.4(DSP):c.3319C>T (p.Leu1107Phe)
|
rs1759348638
|
|
NM_004415.4(DSP):c.3325G>A (p.Glu1109Lys)
|
rs367763339
|
|
NM_004415.4(DSP):c.3340C>A (p.Leu1114Met)
|
|
|
NM_004415.4(DSP):c.3344C>T (p.Thr1115Ile)
|
rs1393151720
|
|
NM_004415.4(DSP):c.3346_3354del (p.Tyr1116_Ile1118del)
|
|
|
NM_004415.4(DSP):c.3368GAA[2] (p.Arg1125del)
|
rs1405952840
|
|
NM_004415.4(DSP):c.3371G>A (p.Arg1124Lys)
|
|
|
NM_004415.4(DSP):c.3399C>G (p.Asp1133Glu)
|
|
|
NM_004415.4(DSP):c.3401A>C (p.Gln1134Pro)
|
rs2113691687
|
|
NM_004415.4(DSP):c.3404A>C (p.Gln1135Pro)
|
rs754250788
|
|
NM_004415.4(DSP):c.3408_3409delinsAG (p.Asn1137Asp)
|
rs1759352206
|
|
NM_004415.4(DSP):c.3458T>G (p.Leu1153Arg)
|
rs1554108085
|
|
NM_004415.4(DSP):c.3465G>C (p.Trp1155Cys)
|
rs1759354150
|
|
NM_004415.4(DSP):c.3469A>C (p.Lys1157Gln)
|
rs1759354483
|
|
NM_004415.4(DSP):c.346G>A (p.Asp116Asn)
|
|
|
NM_004415.4(DSP):c.3485A>C (p.Lys1162Thr)
|
|
|
NM_004415.4(DSP):c.3492C>G (p.Ile1164Met)
|
rs1561697488
|
|
NM_004415.4(DSP):c.3497A>G (p.Glu1166Gly)
|
rs2113691892
|
|
NM_004415.4(DSP):c.3499_3501del (p.Lys1167del)
|
rs1554108091
|
|
NM_004415.4(DSP):c.3504G>T (p.Glu1168Asp)
|
rs1490403808
|
|
NM_004415.4(DSP):c.3505T>A (p.Tyr1169Asn)
|
rs2113691917
|
|
NM_004415.4(DSP):c.3508G>A (p.Glu1170Lys)
|
rs139582608
|
|
NM_004415.4(DSP):c.3508G>C (p.Glu1170Gln)
|
|
|
NM_004415.4(DSP):c.350A>G (p.Gln117Arg)
|
|
|
NM_004415.4(DSP):c.3518G>T (p.Arg1173Met)
|
|
|
NM_004415.4(DSP):c.3524G>A (p.Arg1175Lys)
|
rs1759357066
|
|
NM_004415.4(DSP):c.3526G>A (p.Val1176Ile)
|
|
|
NM_004415.4(DSP):c.3527T>C (p.Val1176Ala)
|
rs1759357469
|
|
NM_004415.4(DSP):c.3538G>A (p.Glu1180Lys)
|
|
|
NM_004415.4(DSP):c.3548C>T (p.Thr1183Ile)
|
|
|
NM_004415.4(DSP):c.3555G>C (p.Lys1185Asn)
|
|
|
NM_004415.4(DSP):c.3559G>A (p.Glu1187Lys)
|
rs1759359375
|
|
NM_004415.4(DSP):c.3565G>A (p.Glu1189Lys)
|
rs866149042
|
|
NM_004415.4(DSP):c.3573G>T (p.Glu1191Asp)
|
rs750659892
|
|
NM_004415.4(DSP):c.3574C>G (p.Leu1192Val)
|
rs1554108118
|
|
NM_004415.4(DSP):c.3578C>A (p.Ala1193Glu)
|
|
|
NM_004415.4(DSP):c.3596A>G (p.Tyr1199Cys)
|
|
|
NM_004415.4(DSP):c.35A>G (p.Asn12Ser)
|
rs1239489755
|
|
NM_004415.4(DSP):c.3608T>C (p.Met1203Thr)
|
|
|
NM_004415.4(DSP):c.3609_3610delinsAG (p.Met1203_Ser1204delinsIleGly)
|
rs1759361326
|
|
NM_004415.4(DSP):c.3616T>G (p.Leu1206Val)
|
rs151115778
|
|
NM_004415.4(DSP):c.3629A>G (p.Tyr1210Cys)
|
|
|
NM_004415.4(DSP):c.3680A>C (p.Gln1227Pro)
|
rs1458557680
|
|
NM_004415.4(DSP):c.3684A>T (p.Lys1228Asn)
|
|
|
NM_004415.4(DSP):c.3687_3689dup (p.Glu1229dup)
|
rs1561697838
|
|
NM_004415.4(DSP):c.3692A>C (p.Asp1231Ala)
|
rs1581816117
|
|
NM_004415.4(DSP):c.3712C>A (p.Gln1238Lys)
|
rs767519046
|
|
NM_004415.4(DSP):c.3712C>G (p.Gln1238Glu)
|
rs767519046
|
|
NM_004415.4(DSP):c.3720T>A (p.Asp1240Glu)
|
rs1759365530
|
|
NM_004415.4(DSP):c.3730A>G (p.Arg1244Gly)
|
rs2113692494
|
|
NM_004415.4(DSP):c.3742G>C (p.Asp1248His)
|
rs989348634
|
|
NM_004415.4(DSP):c.3763A>G (p.Arg1255Gly)
|
rs1477870659
|
|
NM_004415.4(DSP):c.3764G>A (p.Arg1255Lys)
|
rs777407386
|
|
NM_004415.4(DSP):c.3770A>G (p.Asn1257Ser)
|
rs1561697968
|
|
NM_004415.4(DSP):c.3775A>G (p.Ser1259Gly)
|
rs770172294
|
|
NM_004415.4(DSP):c.3778A>T (p.Ile1260Phe)
|
|
|
NM_004415.4(DSP):c.3788C>A (p.Ala1263Asp)
|
rs1359308406
|
|
NM_004415.4(DSP):c.3788C>T (p.Ala1263Val)
|
|
|
NM_004415.4(DSP):c.3794A>G (p.Glu1265Gly)
|
|
|
NM_004415.4(DSP):c.37A>G (p.Thr13Ala)
|
|
|
NM_004415.4(DSP):c.3806G>A (p.Arg1269Gln)
|
rs876657795
|
|
NM_004415.4(DSP):c.3811G>A (p.Glu1271Lys)
|
rs2113692719
|
|
NM_004415.4(DSP):c.3815A>G (p.Glu1272Gly)
|
|
|
NM_004415.4(DSP):c.3820G>C (p.Ala1274Pro)
|
rs1285435504
|
|
NM_004415.4(DSP):c.3820G>T (p.Ala1274Ser)
|
rs1285435504
|
|
NM_004415.4(DSP):c.3842G>A (p.Gly1281Asp)
|
rs757029634
|
|
NM_004415.4(DSP):c.3845C>T (p.Ser1282Phe)
|
rs778780656
|
|
NM_004415.4(DSP):c.3854T>G (p.Met1285Arg)
|
rs1759372184
|
|
NM_004415.4(DSP):c.3864G>T (p.Lys1288Asn)
|
rs768166626
|
|
NM_004415.4(DSP):c.3880G>A (p.Glu1294Lys)
|
|
|
NM_004415.4(DSP):c.3896T>C (p.Met1299Thr)
|
rs1432542467
|
|
NM_004415.4(DSP):c.3897G>C (p.Met1299Ile)
|
rs2113692906
|
|
NM_004415.4(DSP):c.389A>G (p.Gln130Arg)
|
|
|
NM_004415.4(DSP):c.3902A>T (p.Gln1301Leu)
|
rs2113692916
|
|
NM_004415.4(DSP):c.3919_3920delinsTT (p.Ala1307Phe)
|
|
|
NM_004415.4(DSP):c.3923G>T (p.Arg1308Leu)
|
rs184154918
|
|
NM_004415.4(DSP):c.3932A>C (p.Gln1311Pro)
|
|
|
NM_004415.4(DSP):c.3934T>C (p.Ser1312Pro)
|
|
|
NM_004415.4(DSP):c.394G>A (p.Gly132Ser)
|
rs1064796573
|
|
NM_004415.4(DSP):c.3953A>G (p.Lys1318Arg)
|
|
|
NM_004415.4(DSP):c.3956C>T (p.Thr1319Ile)
|
rs138599871
|
|
NM_004415.4(DSP):c.3958A>G (p.Ile1320Val)
|
|
|
NM_004415.4(DSP):c.3964G>A (p.Asp1322Asn)
|
rs1759376700
|
|
NM_004415.4(DSP):c.3971A>G (p.Asn1324Ser)
|
|
|
NM_004415.4(DSP):c.397C>G (p.Gln133Glu)
|
|
|
NM_004415.4(DSP):c.3982G>C (p.Glu1328Gln)
|
rs746208168
|
|
NM_004415.4(DSP):c.3997G>A (p.Glu1333Lys)
|
rs2113693124
|
|
NM_004415.4(DSP):c.4002T>G (p.Phe1334Leu)
|
rs1759378577
|
|
NM_004415.4(DSP):c.4013C>A (p.Ala1338Asp)
|
rs2113693177
|
|
NM_004415.4(DSP):c.4016A>G (p.Lys1339Arg)
|
rs1759379431
|
|
NM_004415.4(DSP):c.4034A>C (p.Glu1345Ala)
|
rs201964660
|
|
NM_004415.4(DSP):c.4034A>G (p.Glu1345Gly)
|
rs201964660
|
|
NM_004415.4(DSP):c.4042C>G (p.Leu1348Val)
|
|
|
NM_004415.4(DSP):c.4055G>A (p.Arg1352Lys)
|
rs757808893
|
|
NM_004415.4(DSP):c.4069GAG[1] (p.Glu1358del)
|
rs777457799
|
|
NM_004415.4(DSP):c.4071G>C (p.Glu1357Asp)
|
rs569786610
|
|
NM_004415.4(DSP):c.4072G>A (p.Glu1358Lys)
|
|
|
NM_004415.4(DSP):c.4077C>G (p.Ile1359Met)
|
|
|
NM_004415.4(DSP):c.4090A>C (p.Asn1364His)
|
|
|
NM_004415.4(DSP):c.4099G>A (p.Glu1367Lys)
|
rs1759383897
|
|
NM_004415.4(DSP):c.4107_4108delinsTG (p.Glu1369_Ile1370delinsAspVal)
|
rs1759384287
|
|
NM_004415.4(DSP):c.4109T>A (p.Ile1370Asn)
|
rs1759384359
|
|
NM_004415.4(DSP):c.4130T>A (p.Ile1377Asn)
|
rs1215591946
|
|
NM_004415.4(DSP):c.4145T>C (p.Met1382Thr)
|
|
|
NM_004415.4(DSP):c.416A>T (p.Gln139Leu)
|
rs1385183881
|
|
NM_004415.4(DSP):c.4172A>C (p.Tyr1391Ser)
|
rs727504547
|
|
NM_004415.4(DSP):c.418A>G (p.Lys140Glu)
|
|
|
NM_004415.4(DSP):c.4195A>G (p.Thr1399Ala)
|
rs1561698547
|
|
NM_004415.4(DSP):c.4202A>T (p.Glu1401Val)
|
rs1759389046
|
|
NM_004415.4(DSP):c.4204A>G (p.Asn1402Asp)
|
|
|
NM_004415.4(DSP):c.4216T>C (p.Ser1406Pro)
|
|
|
NM_004415.4(DSP):c.422+3A>G
|
rs1758564707
|
|
NM_004415.4(DSP):c.4226_4228del (p.Ile1409del)
|
rs746639284
|
|
NM_004415.4(DSP):c.422G>A (p.Arg141Lys)
|
|
|
NM_004415.4(DSP):c.422G>C (p.Arg141Thr)
|
rs969373062
|
|
NM_004415.4(DSP):c.423-6T>G
|
|
|
NM_004415.4(DSP):c.4233G>T (p.Arg1411Ser)
|
rs771721410
|
|
NM_004415.4(DSP):c.423G>T (p.Arg141Ser)
|
|
|
NM_004415.4(DSP):c.4261G>A (p.Glu1421Lys)
|
rs769965019
|
|
NM_004415.4(DSP):c.4267C>A (p.Leu1423Ile)
|
|
|
NM_004415.4(DSP):c.4276G>A (p.Val1426Met)
|
rs1759393186
|
|
NM_004415.4(DSP):c.4289T>C (p.Ile1430Thr)
|
|
|
NM_004415.4(DSP):c.428T>C (p.Leu143Pro)
|
rs746545985
|
|
NM_004415.4(DSP):c.4293A>T (p.Gln1431His)
|
|
|
NM_004415.4(DSP):c.4304C>T (p.Ala1435Val)
|
rs1164622831
|
|
NM_004415.4(DSP):c.4337A>G (p.Gln1446Arg)
|
|
|
NM_004415.4(DSP):c.4351C>G (p.Leu1451Val)
|
|
|
NM_004415.4(DSP):c.4352T>C (p.Leu1451Pro)
|
rs1554108296
|
|
NM_004415.4(DSP):c.4360G>A (p.Val1454Ile)
|
|
|
NM_004415.4(DSP):c.4369A>T (p.Met1457Leu)
|
|
|
NM_004415.4(DSP):c.4371G>C (p.Met1457Ile)
|
rs1169630255
|
|
NM_004415.4(DSP):c.4379A>G (p.Glu1460Gly)
|
rs1759396646
|
|
NM_004415.4(DSP):c.4385_4386delinsTT (p.Ser1462Ile)
|
rs730880090
|
|
NM_004415.4(DSP):c.4396A>G (p.Lys1466Glu)
|
rs1561698838
|
|
NM_004415.4(DSP):c.439G>C (p.Glu147Gln)
|
|
|
NM_004415.4(DSP):c.4409A>G (p.Asp1470Gly)
|
|
|
NM_004415.4(DSP):c.4415C>A (p.Ala1472Asp)
|
rs1272181488
|
|
NM_004415.4(DSP):c.4415C>T (p.Ala1472Val)
|
|
|
NM_004415.4(DSP):c.441G>C (p.Glu147Asp)
|
|
|
NM_004415.4(DSP):c.4426A>G (p.Ile1476Val)
|
|
|
NM_004415.4(DSP):c.4445A>C (p.Glu1482Ala)
|
|
|
NM_004415.4(DSP):c.4449A>G (p.Ile1483Met)
|
rs1308817559
|
|
NM_004415.4(DSP):c.4451A>G (p.Glu1484Gly)
|
|
|
NM_004415.4(DSP):c.4468A>G (p.Ile1490Val)
|
|
|
NM_004415.4(DSP):c.4472A>G (p.Asp1491Gly)
|
rs397516938
|
|
NM_004415.4(DSP):c.44G>A (p.Gly15Asp)
|
rs1265161836
|
|
NM_004415.4(DSP):c.4501G>A (p.Glu1501Lys)
|
|
|
NM_004415.4(DSP):c.4502A>G (p.Glu1501Gly)
|
rs1759403946
|
|
NM_004415.4(DSP):c.4514C>A (p.Ala1505Glu)
|
|
|
NM_004415.4(DSP):c.4521A>T (p.Leu1507Phe)
|
rs1060500611
|
|
NM_004415.4(DSP):c.4523A>G (p.Gln1508Arg)
|
rs1759404972
|
|
NM_004415.4(DSP):c.4527_4559del (p.Arg1509_Ser1519del)
|
rs397516939
|
|
NM_004415.4(DSP):c.4532A>G (p.Gln1511Arg)
|
|
|
NM_004415.4(DSP):c.4533G>C (p.Gln1511His)
|
rs2113694339
|
|
NM_004415.4(DSP):c.4539C>A (p.Asp1513Glu)
|
rs1759406088
|
|
NM_004415.4(DSP):c.4541T>C (p.Leu1514Pro)
|
rs1173680775
|
|
NM_004415.4(DSP):c.4552A>G (p.Asn1518Asp)
|
|
|
NM_004415.4(DSP):c.4558A>G (p.Ser1520Gly)
|
rs780953141
|
|
NM_004415.4(DSP):c.4564A>T (p.Thr1522Ser)
|
rs1759406838
|
|
NM_004415.4(DSP):c.4571C>A (p.Thr1524Lys)
|
rs397516941
|
|
NM_004415.4(DSP):c.4571C>T (p.Thr1524Ile)
|
rs397516941
|
|
NM_004415.4(DSP):c.458A>G (p.Tyr153Cys)
|
rs1758601898
|
|
NM_004415.4(DSP):c.4593G>C (p.Gln1531His)
|
|
|
NM_004415.4(DSP):c.4595A>G (p.Glu1532Gly)
|
rs1759408509
|
|
NM_004415.4(DSP):c.4625A>C (p.Tyr1542Ser)
|
|
|
NM_004415.4(DSP):c.4628A>G (p.Glu1543Gly)
|
|
|
NM_004415.4(DSP):c.4629A>C (p.Glu1543Asp)
|
rs1759410036
|
|
NM_004415.4(DSP):c.4647G>C (p.Arg1549Ser)
|
rs2113694603
|
|
NM_004415.4(DSP):c.4648A>G (p.Thr1550Ala)
|
rs375917565
|
|
NM_004415.4(DSP):c.4649C>G (p.Thr1550Ser)
|
rs928167721
|
|
NM_004415.4(DSP):c.466A>C (p.Ile156Leu)
|
|
|
NM_004415.4(DSP):c.4672C>T (p.Arg1558Trp)
|
|
|
NM_004415.4(DSP):c.4679A>G (p.Gln1560Arg)
|
rs796530013
|
|
NM_004415.4(DSP):c.4683C>G (p.Asn1561Lys)
|
|
|
NM_004415.4(DSP):c.4685C>G (p.Ser1562Cys)
|
|
|
NM_004415.4(DSP):c.4712A>C (p.Gln1571Pro)
|
|
|
NM_004415.4(DSP):c.4750G>T (p.Ala1584Ser)
|
rs191778417
|
|
NM_004415.4(DSP):c.4751C>T (p.Ala1584Val)
|
|
|
NM_004415.4(DSP):c.475C>T (p.Pro159Ser)
|
rs1758602932
|
|
NM_004415.4(DSP):c.4763_4765del (p.Ser1588del)
|
rs1010996982
|
|
NM_004415.4(DSP):c.4766G>T (p.Cys1589Phe)
|
|
|
NM_004415.4(DSP):c.4769A>G (p.Lys1590Arg)
|
rs2113694864
|
|
NM_004415.4(DSP):c.476C>G (p.Pro159Arg)
|
|
|
NM_004415.4(DSP):c.4780C>G (p.Leu1594Val)
|
rs149463707
|
|
NM_004415.4(DSP):c.4786G>A (p.Glu1596Lys)
|
|
|
NM_004415.4(DSP):c.47G>C (p.Arg16Pro)
|
rs752387234
|
|
NM_004415.4(DSP):c.4820A>G (p.Glu1607Gly)
|
rs1364445729
|
|
NM_004415.4(DSP):c.4826C>A (p.Ala1609Asp)
|
|
|
NM_004415.4(DSP):c.4835T>C (p.Ile1612Thr)
|
rs1581818435
|
|
NM_004415.4(DSP):c.4837A>T (p.Thr1613Ser)
|
|
|
NM_004415.4(DSP):c.4847C>T (p.Thr1616Ile)
|
rs1759419853
|
|
NM_004415.4(DSP):c.484C>G (p.Arg162Gly)
|
rs760711308
|
|
NM_004415.4(DSP):c.485G>A (p.Arg162His)
|
rs397516944
|
|
NM_004415.4(DSP):c.4868C>G (p.Ser1623Cys)
|
rs908086952
|
|
NM_004415.4(DSP):c.4870A>G (p.Ile1624Val)
|
|
|
NM_004415.4(DSP):c.4886G>A (p.Ser1629Asn)
|
|
|
NM_004415.4(DSP):c.4888G>A (p.Glu1630Lys)
|
rs2113695154
|
|
NM_004415.4(DSP):c.4893T>G (p.Asp1631Glu)
|
rs775633446
|
|
NM_004415.4(DSP):c.4894G>A (p.Asp1632Asn)
|
rs747279731
|
|
NM_004415.4(DSP):c.4900C>T (p.Arg1634Trp)
|
rs973569441
|
|
NM_004415.4(DSP):c.4901G>T (p.Arg1634Leu)
|
rs144106775
|
|
NM_004415.4(DSP):c.4916T>C (p.Val1639Ala)
|
|
|
NM_004415.4(DSP):c.4946G>A (p.Arg1649Lys)
|
rs2113695278
|
|
NM_004415.4(DSP):c.4948A>G (p.Thr1650Ala)
|
rs2113695282
|
|
NM_004415.4(DSP):c.494G>A (p.Ser165Asn)
|
|
|
NM_004415.4(DSP):c.4954G>C (p.Glu1652Gln)
|
rs267601119
|
|
NM_004415.4(DSP):c.4973C>T (p.Ser1658Phe)
|
rs202084959
|
|
NM_004415.4(DSP):c.497C>T (p.Ser166Phe)
|
rs1060500620
|
|
NM_004415.4(DSP):c.4999C>A (p.Gln1667Lys)
|
|
|
NM_004415.4(DSP):c.5006T>C (p.Leu1669Pro)
|
rs776712810
|
|
NM_004415.4(DSP):c.5037C>G (p.His1679Gln)
|
|
|
NM_004415.4(DSP):c.505G>A (p.Gly169Ser)
|
rs1184706017
|
|
NM_004415.4(DSP):c.5065A>C (p.Ile1689Leu)
|
rs1043797322
|
|
NM_004415.4(DSP):c.506G>A (p.Gly169Asp)
|
rs1758605175
|
|
NM_004415.4(DSP):c.5075_5080del (p.Lys1692_Ser1693del)
|
|
|
NM_004415.4(DSP):c.5090A>T (p.Asn1697Ile)
|
rs2113695564
|
|
NM_004415.4(DSP):c.50T>C (p.Met17Thr)
|
rs559248100
|
|
NM_004415.4(DSP):c.5101A>G (p.Ile1701Val)
|
rs794728154
|
|
NM_004415.4(DSP):c.5107A>G (p.Ile1703Val)
|
rs868035157
|
|
NM_004415.4(DSP):c.5108T>A (p.Ile1703Asn)
|
rs794728123
|
|
NM_004415.4(DSP):c.5110G>A (p.Glu1704Lys)
|
rs1312263432
|
|
NM_004415.4(DSP):c.5123C>G (p.Ser1708Cys)
|
rs372452104
|
|
NM_004415.4(DSP):c.512_513delinsAA (p.Gly171Glu)
|
rs1758605814
|
|
NM_004415.4(DSP):c.5161GAA[2] (p.Glu1723del)
|
rs730880091
|
|
NM_004415.4(DSP):c.5171T>C (p.Leu1724Pro)
|
rs2113695726
|
|
NM_004415.4(DSP):c.5174G>A (p.Arg1725Gln)
|
rs1759434677
|
|
NM_004415.4(DSP):c.5188G>A (p.Glu1730Lys)
|
rs794727382
|
|
NM_004415.4(DSP):c.5212C>G (p.Arg1738Gly)
|
rs794728124
|
|
NM_004415.4(DSP):c.5227A>G (p.Ser1743Gly)
|
rs1759437499
|
|
NM_004415.4(DSP):c.5245A>G (p.Ile1749Val)
|
rs1279085997
|
|
NM_004415.4(DSP):c.5249T>G (p.Leu1750Trp)
|
rs1759438511
|
|
NM_004415.4(DSP):c.526A>G (p.Ser176Gly)
|
rs1426245453
|
|
NM_004415.4(DSP):c.5283C>A (p.Asn1761Lys)
|
rs763355815
|
|
NM_004415.4(DSP):c.5303G>T (p.Gly1768Val)
|
rs2113696049
|
|
NM_004415.4(DSP):c.5305C>A (p.Leu1769Met)
|
rs946445410
|
|
NM_004415.4(DSP):c.5308A>G (p.Ile1770Val)
|
rs2113696065
|
|
NM_004415.4(DSP):c.5309T>C (p.Ile1770Thr)
|
|
|
NM_004415.4(DSP):c.5318T>C (p.Leu1773Ser)
|
rs2113696090
|
|
NM_004415.4(DSP):c.5322G>C (p.Gln1774His)
|
|
|
NM_004415.4(DSP):c.5327A>G (p.Glu1776Gly)
|
rs1363204936
|
|
NM_004415.4(DSP):c.535G>A (p.Gly179Ser)
|
rs774829433
|
|
NM_004415.4(DSP):c.5363A>C (p.Gln1788Pro)
|
rs139673146
|
|
NM_004415.4(DSP):c.5371G>A (p.Ala1791Thr)
|
rs2113696199
|
|
NM_004415.4(DSP):c.5380-1G>C
|
rs1759474600
|
|
NM_004415.4(DSP):c.5384C>A (p.Ser1795Tyr)
|
|
|
NM_004415.4(DSP):c.5414G>T (p.Cys1805Phe)
|
rs768161038
|
|
NM_004415.4(DSP):c.5439G>C (p.Glu1813Asp)
|
rs1759477469
|
|
NM_004415.4(DSP):c.5441G>A (p.Ser1814Asn)
|
rs730880085
|
|
NM_004415.4(DSP):c.5442C>A (p.Ser1814Arg)
|
rs2113697874
|
|
NM_004415.4(DSP):c.5483G>C (p.Arg1828Thr)
|
|
|
NM_004415.4(DSP):c.5489A>T (p.Gln1830Leu)
|
|
|
NM_004415.4(DSP):c.5512C>T (p.Arg1838Cys)
|
rs756481791
|
|
NM_004415.4(DSP):c.5513G>T (p.Arg1838Leu)
|
rs377715841
|
|
NM_004415.4(DSP):c.5516C>T (p.Ala1839Val)
|
|
|
NM_004415.4(DSP):c.5521T>C (p.Ser1841Pro)
|
|
|
NM_004415.4(DSP):c.5538A>C (p.Glu1846Asp)
|
|
|
NM_004415.4(DSP):c.5548A>C (p.Lys1850Gln)
|
|
|
NM_004415.4(DSP):c.5555G>T (p.Arg1852Leu)
|
|
|
NM_004415.4(DSP):c.5560G>C (p.Glu1854Gln)
|
|
|
NM_004415.4(DSP):c.5563T>C (p.Cys1855Arg)
|
rs1453126950
|
|
NM_004415.4(DSP):c.557A>G (p.His186Arg)
|
rs1033990351
|
|
NM_004415.4(DSP):c.557A>T (p.His186Leu)
|
rs1033990351
|
|
NM_004415.4(DSP):c.5584A>T (p.Asn1862Tyr)
|
rs2113698216
|
|
NM_004415.4(DSP):c.5587G>A (p.Asp1863Asn)
|
|
|
NM_004415.4(DSP):c.5590C>A (p.Leu1864Met)
|
|
|
NM_004415.4(DSP):c.5609A>G (p.Gln1870Arg)
|
|
|
NM_004415.4(DSP):c.5618G>T (p.Arg1873Leu)
|
rs776088292
|
|
NM_004415.4(DSP):c.5620A>G (p.Lys1874Glu)
|
|
|
NM_004415.4(DSP):c.5633T>C (p.Ile1878Thr)
|
rs1581820615
|
|
NM_004415.4(DSP):c.5635A>G (p.Arg1879Gly)
|
rs1759488201
|
|
NM_004415.4(DSP):c.5642T>C (p.Ile1881Thr)
|
rs1192963820
|
|
NM_004415.4(DSP):c.5659A>G (p.Lys1887Glu)
|
|
|
NM_004415.4(DSP):c.5664T>A (p.Ser1888Arg)
|
|
|
NM_004415.4(DSP):c.5673GAA[1] (p.Lys1892del)
|
|
|
NM_004415.4(DSP):c.5674A>G (p.Lys1892Glu)
|
|
|
NM_004415.4(DSP):c.5678A>G (p.Asn1893Ser)
|
rs2113698496
|
|
NM_004415.4(DSP):c.5680A>C (p.Ser1894Arg)
|
|
|
NM_004415.4(DSP):c.5681G>C (p.Ser1894Thr)
|
|
|
NM_004415.4(DSP):c.5683C>G (p.Leu1895Val)
|
rs1159494439
|
|
NM_004415.4(DSP):c.5688_5690del (p.Arg1896del)
|
rs1561701244
|
|
NM_004415.4(DSP):c.568G>A (p.Glu190Lys)
|
rs1758608184
|
|
NM_004415.4(DSP):c.5697C>G (p.Ile1899Met)
|
|
|
NM_004415.4(DSP):c.56G>A (p.Arg19His)
|
rs1757992558
|
|
NM_004415.4(DSP):c.5738G>C (p.Cys1913Ser)
|
rs755250746
|
|
NM_004415.4(DSP):c.5743C>T (p.Arg1915Cys)
|
rs1461028383
|
|
NM_004415.4(DSP):c.5765G>A (p.Arg1922Lys)
|
rs1235630592
|
|
NM_004415.4(DSP):c.5767G>C (p.Glu1923Gln)
|
rs397516948
|
|
NM_004415.4(DSP):c.576G>A (p.Leu192=)
|
rs1758608540
|
|
NM_004415.4(DSP):c.576G>T (p.Leu192Phe)
|
rs1758608540
|
|
NM_004415.4(DSP):c.5789C>G (p.Thr1930Arg)
|
rs794728126
|
|
NM_004415.4(DSP):c.5821A>G (p.Lys1941Glu)
|
rs794728127
|
|
NM_004415.4(DSP):c.5828G>T (p.Arg1943Ile)
|
|
|
NM_004415.4(DSP):c.5869T>C (p.Cys1957Arg)
|
rs2113698961
|
|
NM_004415.4(DSP):c.5874G>C (p.Glu1958Asp)
|
|
|
NM_004415.4(DSP):c.5887A>G (p.Thr1963Ala)
|
|
|
NM_004415.4(DSP):c.5896C>G (p.Leu1966Val)
|
rs1554108700
|
|
NM_004415.4(DSP):c.5918A>G (p.Lys1973Arg)
|
rs376397314
|
|
NM_004415.4(DSP):c.5920A>G (p.Lys1974Glu)
|
rs1561701683
|
|
NM_004415.4(DSP):c.5922G>C (p.Lys1974Asn)
|
rs193059393
|
|
NM_004415.4(DSP):c.5924T>C (p.Val1975Ala)
|
rs1759505693
|
|
NM_004415.4(DSP):c.5933T>C (p.Met1978Thr)
|
rs1322656621
|
|
NM_004415.4(DSP):c.5942A>G (p.Tyr1981Cys)
|
rs1085307622
|
|
NM_004415.4(DSP):c.596G>T (p.Arg199Met)
|
|
|
NM_004415.4(DSP):c.597+2_597+5dup
|
rs765558005
|
|
NM_004415.4(DSP):c.597+4A>C
|
|
|
NM_004415.4(DSP):c.5978A>G (p.Lys1993Arg)
|
rs1561701766
|
|
NM_004415.4(DSP):c.5G>C (p.Ser2Thr)
|
|
|
NM_004415.4(DSP):c.6010G>C (p.Val2004Leu)
|
|
|
NM_004415.4(DSP):c.6011T>C (p.Val2004Ala)
|
rs1759511205
|
|
NM_004415.4(DSP):c.6013G>A (p.Ala2005Thr)
|
|
|
NM_004415.4(DSP):c.6041G>C (p.Gly2014Ala)
|
rs1470983327
|
|
NM_004415.4(DSP):c.6046G>A (p.Gly2016Arg)
|
rs1759513408
|
|
NM_004415.4(DSP):c.6055G>A (p.Ala2019Thr)
|
rs771974957
|
|
NM_004415.4(DSP):c.6067G>C (p.Ala2023Pro)
|
rs776533737
|
|
NM_004415.4(DSP):c.6067G>T (p.Ala2023Ser)
|
rs776533737
|
|
NM_004415.4(DSP):c.6073C>T (p.Pro2025Ser)
|
rs1759514545
|
|
NM_004415.4(DSP):c.6088T>C (p.Ser2030Pro)
|
rs1759514959
|
|
NM_004415.4(DSP):c.6089C>A (p.Ser2030Tyr)
|
rs867842357
|
|
NM_004415.4(DSP):c.6104A>C (p.Lys2035Thr)
|
|
|
NM_004415.4(DSP):c.6106A>G (p.Arg2036Gly)
|
rs2113699558
|
|
NM_004415.4(DSP):c.6118A>G (p.Ile2040Val)
|
|
|
NM_004415.4(DSP):c.612G>C (p.Met204Ile)
|
rs1021314728
|
|
NM_004415.4(DSP):c.612G>T (p.Met204Ile)
|
|
|
NM_004415.4(DSP):c.6134C>G (p.Thr2045Arg)
|
rs1759516546
|
|
NM_004415.4(DSP):c.6146T>G (p.Leu2049Arg)
|
rs1759516965
|
|
NM_004415.4(DSP):c.6160G>A (p.Ala2054Thr)
|
rs1759517531
|
|
NM_004415.4(DSP):c.616G>A (p.Ala206Thr)
|
rs794728109
|
|
NM_004415.4(DSP):c.6179A>T (p.Asp2060Val)
|
|
|
NM_004415.4(DSP):c.6181C>T (p.Pro2061Ser)
|
rs1561702055
|
|
NM_004415.4(DSP):c.6187C>T (p.Arg2063Trp)
|
rs374090050
|
|
NM_004415.4(DSP):c.6203C>G (p.Thr2068Ser)
|
|
|
NM_004415.4(DSP):c.6208G>C (p.Asp2070His)
|
|
|
NM_004415.4(DSP):c.620G>C (p.Trp207Ser)
|
rs1445705079
|
|
NM_004415.4(DSP):c.6224G>T (p.Arg2075Leu)
|
|
|
NM_004415.4(DSP):c.6247C>G (p.Arg2083Gly)
|
rs370093129
|
|
NM_004415.4(DSP):c.6275C>T (p.Ala2092Val)
|
rs876657796
|
|
NM_004415.4(DSP):c.6278T>C (p.Ile2093Thr)
|
|
|
NM_004415.4(DSP):c.6295_6296delinsAT (p.Pro2099Ile)
|
rs587782942
|
|
NM_004415.4(DSP):c.6328G>T (p.Ala2110Ser)
|
|
|
NM_004415.4(DSP):c.6353G>C (p.Arg2118Thr)
|
|
|
NM_004415.4(DSP):c.6361G>A (p.Gly2121Arg)
|
rs368227724
|
|
NM_004415.4(DSP):c.6364A>G (p.Met2122Val)
|
|
|
NM_004415.4(DSP):c.6409C>A (p.Pro2137Thr)
|
rs2113700303
|
|
NM_004415.4(DSP):c.6422T>G (p.Val2141Gly)
|
rs1759532262
|
|
NM_004415.4(DSP):c.6454G>C (p.Gly2152Arg)
|
|
|
NM_004415.4(DSP):c.6460A>G (p.Ile2154Val)
|
|
|
NM_004415.4(DSP):c.6461T>C (p.Ile2154Thr)
|
rs2113700418
|
|
NM_004415.4(DSP):c.6470A>G (p.Asp2157Gly)
|
rs2113700447
|
|
NM_004415.4(DSP):c.6475T>C (p.Tyr2159His)
|
|
|
NM_004415.4(DSP):c.647A>C (p.Gln216Pro)
|
rs1758736357
|
|
NM_004415.4(DSP):c.6485T>C (p.Leu2162Pro)
|
|
|
NM_004415.4(DSP):c.6494C>T (p.Pro2165Leu)
|
rs1759535966
|
|
NM_004415.4(DSP):c.64T>C (p.Ser22Pro)
|
rs2113628752
|
|
NM_004415.4(DSP):c.6505C>G (p.Gln2169Glu)
|
rs1561702645
|
|
NM_004415.4(DSP):c.6512A>C (p.Asn2171Thr)
|
|
|
NM_004415.4(DSP):c.6526G>A (p.Val2176Ile)
|
rs746533703
|
|
NM_004415.4(DSP):c.6526G>C (p.Val2176Leu)
|
rs746533703
|
|
NM_004415.4(DSP):c.6530C>A (p.Thr2177Asn)
|
|
|
NM_004415.4(DSP):c.6545G>T (p.Ser2182Ile)
|
|
|
NM_004415.4(DSP):c.6547T>C (p.Tyr2183His)
|
rs763549172
|
|
NM_004415.4(DSP):c.6551T>A (p.Val2184Glu)
|
|
|
NM_004415.4(DSP):c.6569G>T (p.Cys2190Phe)
|
rs1276738564
|
|
NM_004415.4(DSP):c.6577G>A (p.Glu2193Lys)
|
rs397516952
|
|
NM_004415.4(DSP):c.6586A>G (p.Thr2196Ala)
|
rs2113700741
|
|
NM_004415.4(DSP):c.6595C>G (p.Leu2199Val)
|
|
|
NM_004415.4(DSP):c.65C>G (p.Ser22Cys)
|
|
|
NM_004415.4(DSP):c.6620G>C (p.Ser2207Thr)
|
|
|
NM_004415.4(DSP):c.663C>G (p.His221Gln)
|
rs1561683654
|
|
NM_004415.4(DSP):c.665G>T (p.Arg222Leu)
|
|
|
NM_004415.4(DSP):c.6667G>A (p.Val2223Ile)
|
|
|
NM_004415.4(DSP):c.6701A>T (p.Asn2234Ile)
|
|
|
NM_004415.4(DSP):c.6718C>A (p.Gln2240Lys)
|
rs374262024
|
|
NM_004415.4(DSP):c.6765G>T (p.Gln2255His)
|
rs766183320
|
|
NM_004415.4(DSP):c.6769T>G (p.Ser2257Ala)
|
rs1759547079
|
|
NM_004415.4(DSP):c.6776G>T (p.Cys2259Phe)
|
rs754635738
|
|
NM_004415.4(DSP):c.6778A>G (p.Ile2260Val)
|
|
|
NM_004415.4(DSP):c.6818G>A (p.Gly2273Asp)
|
|
|
NM_004415.4(DSP):c.6826G>A (p.Glu2276Lys)
|
|
|
NM_004415.4(DSP):c.6827A>G (p.Glu2276Gly)
|
|
|
NM_004415.4(DSP):c.682A>G (p.Ile228Val)
|
rs934038992
|
|
NM_004415.4(DSP):c.6853C>A (p.Pro2285Thr)
|
rs377085222
|
|
NM_004415.4(DSP):c.6859A>G (p.Thr2287Ala)
|
|
|
NM_004415.4(DSP):c.685G>A (p.Gly229Ser)
|
rs376185352
|
|
NM_004415.4(DSP):c.685G>T (p.Gly229Cys)
|
|
|
NM_004415.4(DSP):c.6895G>A (p.Gly2299Ser)
|
rs1561703092
|
|
NM_004415.4(DSP):c.6896G>C (p.Gly2299Ala)
|
|
|
NM_004415.4(DSP):c.6946T>C (p.Tyr2316His)
|
|
|
NM_004415.4(DSP):c.694C>T (p.Arg232Cys)
|
rs777847026
|
|
NM_004415.4(DSP):c.6950A>G (p.Lys2317Arg)
|
|
|
NM_004415.4(DSP):c.6955G>A (p.Gly2319Ser)
|
|
|
NM_004415.4(DSP):c.6967A>C (p.Ile2323Leu)
|
rs1759554116
|
|
NM_004415.4(DSP):c.6974T>G (p.Phe2325Cys)
|
rs1349503429
|
|
NM_004415.4(DSP):c.7009A>G (p.Thr2337Ala)
|
|
|
NM_004415.4(DSP):c.7021G>A (p.Asp2341Asn)
|
rs200314271
|
|
NM_004415.4(DSP):c.7031C>G (p.Thr2344Arg)
|
|
|
NM_004415.4(DSP):c.7034G>T (p.Gly2345Val)
|
|
|
NM_004415.4(DSP):c.7045T>C (p.Ser2349Pro)
|
|
|
NM_004415.4(DSP):c.7069G>C (p.Glu2357Gln)
|
|
|
NM_004415.4(DSP):c.7084G>A (p.Gly2362Ser)
|
|
|
NM_004415.4(DSP):c.7093A>G (p.Ile2365Val)
|
|
|
NM_004415.4(DSP):c.7105G>A (p.Glu2369Lys)
|
|
|
NM_004415.4(DSP):c.7120A>G (p.Thr2374Ala)
|
rs1759559299
|
|
NM_004415.4(DSP):c.7123G>C (p.Gly2375Arg)
|
rs376923069
|
|
NM_004415.4(DSP):c.7129_7152del (p.Ile2377_His2384del)
|
rs2113701695
|
|
NM_004415.4(DSP):c.7163T>C (p.Val2388Ala)
|
|
|
NM_004415.4(DSP):c.716A>G (p.Lys239Arg)
|
|
|
NM_004415.4(DSP):c.7179G>T (p.Lys2393Asn)
|
rs1759561425
|
|
NM_004415.4(DSP):c.7183G>A (p.Gly2395Ser)
|
|
|
NM_004415.4(DSP):c.7186T>A (p.Tyr2396Asn)
|
rs863225268
|
|
NM_004415.4(DSP):c.71C>T (p.Pro24Leu)
|
rs978383808
|
|
NM_004415.4(DSP):c.7204A>G (p.Ser2402Gly)
|
|
|
NM_004415.4(DSP):c.7213C>T (p.Leu2405Phe)
|
rs774401264
|
|
NM_004415.4(DSP):c.7223C>A (p.Pro2408Gln)
|
rs2113701876
|
|
NM_004415.4(DSP):c.7246T>C (p.Phe2416Leu)
|
rs2113701908
|
|
NM_004415.4(DSP):c.7249G>A (p.Asp2417Asn)
|
|
|
NM_004415.4(DSP):c.726+5T>G
|
|
|
NM_004415.4(DSP):c.7268A>G (p.Asn2423Ser)
|
|
|
NM_004415.4(DSP):c.726G>A (p.Leu242=)
|
|
|
NM_004415.4(DSP):c.727C>T (p.Arg243Cys)
|
rs1191710190
|
|
NM_004415.4(DSP):c.7284A>G (p.Gln2428=)
|
rs1759565168
|
|
NM_004415.4(DSP):c.7290A>C (p.Lys2430Asn)
|
|
|
NM_004415.4(DSP):c.7305G>C (p.Lys2435Asn)
|
rs1554108998
|
|
NM_004415.4(DSP):c.7322T>C (p.Leu2441Pro)
|
|
|
NM_004415.4(DSP):c.7327C>T (p.Leu2443Phe)
|
rs864309585
|
|
NM_004415.4(DSP):c.7339A>G (p.Lys2447Glu)
|
rs1759567175
|
|
NM_004415.4(DSP):c.7346A>C (p.Lys2449Thr)
|
rs1581823888
|
|
NM_004415.4(DSP):c.7347GAA[1] (p.Lys2451del)
|
rs766860183
|
|
NM_004415.4(DSP):c.7360C>G (p.Gln2454Glu)
|
rs373890201
|
|
NM_004415.4(DSP):c.7370A>C (p.Gln2457Pro)
|
rs1206306343
|
|
NM_004415.4(DSP):c.7372A>G (p.Lys2458Glu)
|
rs1759568876
|
|
NM_004415.4(DSP):c.7381C>T (p.Leu2461Phe)
|
rs201863784
|
|
NM_004415.4(DSP):c.7382T>A (p.Leu2461His)
|
|
|
NM_004415.4(DSP):c.7385G>A (p.Arg2462Lys)
|
|
|
NM_004415.4(DSP):c.73G>T (p.Asp25Tyr)
|
rs2113628779
|
|
NM_004415.4(DSP):c.7418C>T (p.Thr2473Ile)
|
rs1389902511
|
|
NM_004415.4(DSP):c.7420A>T (p.Asn2474Tyr)
|
|
|
NM_004415.4(DSP):c.7421A>G (p.Asn2474Ser)
|
rs1759570598
|
|
NM_004415.4(DSP):c.742A>G (p.Ile248Val)
|
|
|
NM_004415.4(DSP):c.743T>C (p.Ile248Thr)
|
rs1455602530
|
|
NM_004415.4(DSP):c.7456G>A (p.Gly2486Ser)
|
|
|
NM_004415.4(DSP):c.7460T>C (p.Leu2487Pro)
|
rs1759571794
|
|
NM_004415.4(DSP):c.7477T>G (p.Phe2493Val)
|
rs138798656
|
|
NM_004415.4(DSP):c.7480A>G (p.Lys2494Glu)
|
|
|
NM_004415.4(DSP):c.7481A>G (p.Lys2494Arg)
|
|
|
NM_004415.4(DSP):c.7499A>G (p.Glu2500Gly)
|
|
|
NM_004415.4(DSP):c.7503_7508del (p.Cys2501_Glu2502del)
|
rs1473818298
|
|
NM_004415.4(DSP):c.7526C>T (p.Thr2509Met)
|
|
|
NM_004415.4(DSP):c.7528G>A (p.Gly2510Arg)
|
|
|
NM_004415.4(DSP):c.7534G>C (p.Asp2512His)
|
|
|
NM_004415.4(DSP):c.7541C>T (p.Ser2514Phe)
|
|
|
NM_004415.4(DSP):c.7543_7544delinsCGTGGTATCTGGGAGGCCTACAAGAAGGGCCTAATTGATTATGAAACCTTCAAAGAACTGTGTGAGCAGGAATGTGAATGGGAAGAAATAACCATCACGGGATCAGATGGCTCCCGTGGTAA (p.Thr2515delinsArgGlyIleTrpGluAlaTyrLysLysGlyLeuIleAspTyrGluThrPheLysGluLeuCysGluGlnGluCysGluTrpGluGluIleThrIleThrGlySerAspGlySerArgGlyAsn)
|
rs2113702542
|
|
NM_004415.4(DSP):c.7579C>G (p.Gln2527Glu)
|
rs2113702673
|
|
NM_004415.4(DSP):c.7582T>G (p.Tyr2528Asp)
|
rs2113702680
|
|
NM_004415.4(DSP):c.7585G>A (p.Asp2529Asn)
|
rs1759581655
|
|
NM_004415.4(DSP):c.7588A>G (p.Ile2530Val)
|
rs397516958
|
|
NM_004415.4(DSP):c.7598C>G (p.Ala2533Gly)
|
|
|
NM_004415.4(DSP):c.7604A>G (p.Asp2535Gly)
|
rs1759583033
|
|
NM_004415.4(DSP):c.7610G>A (p.Gly2537Asp)
|
|
|
NM_004415.4(DSP):c.7610G>T (p.Gly2537Val)
|
|
|
NM_004415.4(DSP):c.7618G>C (p.Asp2540His)
|
|
|
NM_004415.4(DSP):c.7619A>T (p.Asp2540Val)
|
|
|
NM_004415.4(DSP):c.7620C>A (p.Asp2540Glu)
|
rs2113702817
|
|
NM_004415.4(DSP):c.762G>T (p.Glu254Asp)
|
rs1406835654
|
|
NM_004415.4(DSP):c.7633G>T (p.Asp2545Tyr)
|
|
|
NM_004415.4(DSP):c.7635T>G (p.Asp2545Glu)
|
rs1759584844
|
|
NM_004415.4(DSP):c.7636C>G (p.Gln2546Glu)
|
|
|
NM_004415.4(DSP):c.7642C>G (p.Arg2548Gly)
|
|
|
NM_004415.4(DSP):c.7646C>T (p.Ser2549Phe)
|
|
|
NM_004415.4(DSP):c.7657A>G (p.Ser2553Gly)
|
rs769601021
|
|
NM_004415.4(DSP):c.7675G>A (p.Asp2559Asn)
|
rs2113702999
|
|
NM_004415.4(DSP):c.7679T>C (p.Met2560Thr)
|
|
|
NM_004415.4(DSP):c.7685_7687del (p.Ser2562del)
|
rs762495630
|
|
NM_004415.4(DSP):c.7689G>C (p.Leu2563Phe)
|
|
|
NM_004415.4(DSP):c.7689_7694dup (p.Lys2564_Asn2565insLysLys)
|
rs1554109062
|
|
NM_004415.4(DSP):c.769A>G (p.Asn257Asp)
|
rs1758773914
|
|
NM_004415.4(DSP):c.7706C>A (p.Thr2569Asn)
|
|
|
NM_004415.4(DSP):c.7708A>G (p.Ser2570Gly)
|
rs1456123705
|
|
NM_004415.4(DSP):c.7716C>T (p.Ser2572=)
|
rs773824736
|
|
NM_004415.4(DSP):c.7718T>C (p.Met2573Thr)
|
rs1759589574
|
|
NM_004415.4(DSP):c.7735G>C (p.Asp2579His)
|
rs750744914
|
|
NM_004415.4(DSP):c.7736A>T (p.Asp2579Val)
|
|
|
NM_004415.4(DSP):c.7754C>T (p.Ser2585Phe)
|
rs1018344778
|
|
NM_004415.4(DSP):c.7756C>G (p.Arg2586Gly)
|
rs1420689736
|
|
NM_004415.4(DSP):c.776T>C (p.Leu259Pro)
|
rs1758774627
|
|
NM_004415.4(DSP):c.777+5G>A
|
|
|
NM_004415.4(DSP):c.778-11C>A
|
|
|
NM_004415.4(DSP):c.778-12C>T
|
|
|
NM_004415.4(DSP):c.778-4G>C
|
rs1296932263
|
|
NM_004415.4(DSP):c.778-6G>A
|
|
|
NM_004415.4(DSP):c.781G>A (p.Ala261Thr)
|
rs967465931
|
|
NM_004415.4(DSP):c.7820G>T (p.Ser2607Ile)
|
|
|
NM_004415.4(DSP):c.7823C>A (p.Ser2608Tyr)
|
rs777066674
|
|
NM_004415.4(DSP):c.7832A>T (p.Asp2611Val)
|
|
|
NM_004415.4(DSP):c.7837C>G (p.Leu2613Val)
|
rs1286275087
|
|
NM_004415.4(DSP):c.7845A>C (p.Glu2615Asp)
|
rs1367058874
|
|
NM_004415.4(DSP):c.7861G>A (p.Ala2621Thr)
|
rs1554109107
|
|
NM_004415.4(DSP):c.7868T>G (p.Phe2623Cys)
|
|
|
NM_004415.4(DSP):c.7886A>G (p.Glu2629Gly)
|
|
|
NM_004415.4(DSP):c.7894T>C (p.Ser2632Pro)
|
|
|
NM_004415.4(DSP):c.7907G>A (p.Gly2636Asp)
|
rs1759605211
|
|
NM_004415.4(DSP):c.7909A>G (p.Ile2637Val)
|
rs1759605309
|
|
NM_004415.4(DSP):c.7911A>G (p.Ile2637Met)
|
rs2113703589
|
|
NM_004415.4(DSP):c.7920C>T (p.Gly2640=)
|
|
|
NM_004415.4(DSP):c.7927G>A (p.Asp2643Asn)
|
|
|
NM_004415.4(DSP):c.7942C>G (p.Gln2648Glu)
|
rs2113703697
|
|
NM_004415.4(DSP):c.795G>C (p.Arg265Ser)
|
|
|
NM_004415.4(DSP):c.796A>C (p.Met266Leu)
|
rs1758827543
|
|
NM_004415.4(DSP):c.7987C>G (p.Pro2663Ala)
|
|
|
NM_004415.4(DSP):c.7991C>A (p.Thr2664Asn)
|
rs1759611499
|
|
NM_004415.4(DSP):c.8000A>G (p.Gln2667Arg)
|
|
|
NM_004415.4(DSP):c.801T>A (p.Asp267Glu)
|
|
|
NM_004415.4(DSP):c.8052G>A (p.Met2684Ile)
|
rs1408242511
|
|
NM_004415.4(DSP):c.8071G>C (p.Ala2691Pro)
|
rs1006955897
|
|
NM_004415.4(DSP):c.8084T>G (p.Phe2695Cys)
|
rs764994940
|
|
NM_004415.4(DSP):c.8085C>A (p.Phe2695Leu)
|
rs1759617585
|
|
NM_004415.4(DSP):c.8093T>C (p.Phe2698Ser)
|
rs1759618009
|
|
NM_004415.4(DSP):c.8101G>A (p.Val2701Met)
|
rs1561704928
|
|
NM_004415.4(DSP):c.8121G>T (p.Met2707Ile)
|
rs2113704161
|
|
NM_004415.4(DSP):c.8122T>A (p.Ser2708Thr)
|
rs924262414
|
|
NM_004415.4(DSP):c.8138T>G (p.Val2713Gly)
|
rs1759621076
|
|
NM_004415.4(DSP):c.8149T>C (p.Trp2717Arg)
|
rs1554109176
|
|
NM_004415.4(DSP):c.8152C>G (p.Leu2718Val)
|
|
|
NM_004415.4(DSP):c.8159A>G (p.Tyr2720Cys)
|
rs367972703
|
|
NM_004415.4(DSP):c.8165C>G (p.Ala2722Gly)
|
|
|
NM_004415.4(DSP):c.8171A>G (p.Gln2724Arg)
|
rs1759623133
|
|
NM_004415.4(DSP):c.8188del (p.Gln2730fs)
|
rs886038929
|
|
NM_004415.4(DSP):c.8195T>G (p.Leu2732Arg)
|
|
|
NM_004415.4(DSP):c.8197A>C (p.Thr2733Pro)
|
|
|
NM_004415.4(DSP):c.8201G>A (p.Gly2734Glu)
|
rs1561705241
|
|
NM_004415.4(DSP):c.8207T>A (p.Leu2736His)
|
rs1759625908
|
|
NM_004415.4(DSP):c.8216C>G (p.Pro2739Arg)
|
rs761527198
|
|
NM_004415.4(DSP):c.8218G>C (p.Glu2740Gln)
|
|
|
NM_004415.4(DSP):c.8230A>G (p.Arg2744Gly)
|
rs1198357388
|
|
NM_004415.4(DSP):c.8242G>A (p.Glu2748Lys)
|
|
|
NM_004415.4(DSP):c.8249C>T (p.Ala2750Val)
|
|
|
NM_004415.4(DSP):c.8252T>C (p.Ile2751Thr)
|
|
|
NM_004415.4(DSP):c.8252T>G (p.Ile2751Ser)
|
|
|
NM_004415.4(DSP):c.8255G>C (p.Arg2752Pro)
|
rs769706539
|
|
NM_004415.4(DSP):c.8257A>C (p.Lys2753Gln)
|
rs1554109205
|
|
NM_004415.4(DSP):c.8272G>A (p.Gly2758Ser)
|
|
|
NM_004415.4(DSP):c.8275C>T (p.Arg2759Cys)
|
rs148254632
|
|
NM_004415.4(DSP):c.8276G>A (p.Arg2759His)
|
rs936541705
|
|
NM_004415.4(DSP):c.8284C>T (p.Gln2762Ter)
|
rs376703565
|
|
NM_004415.4(DSP):c.8288G>A (p.Arg2763Lys)
|
|
|
NM_004415.4(DSP):c.8291_8292insTGCT (p.Gln2765fs)
|
rs756925801
|
|
NM_004415.4(DSP):c.8296G>A (p.Asp2766Asn)
|
rs1759633378
|
|
NM_004415.4(DSP):c.8299A>G (p.Thr2767Ala)
|
rs1304137526
|
|
NM_004415.4(DSP):c.8300C>G (p.Thr2767Ser)
|
|
|
NM_004415.4(DSP):c.8300C>T (p.Thr2767Ile)
|
rs34884895
|
|
NM_004415.4(DSP):c.8304C>G (p.Ser2768Arg)
|
|
|
NM_004415.4(DSP):c.8316A>C (p.Lys2772Asn)
|
|
|
NM_004415.4(DSP):c.8319C>G (p.Ile2773Met)
|
|
|
NM_004415.4(DSP):c.8319_8341del (p.Leu2774fs)
|
rs2113704840
|
|
NM_004415.4(DSP):c.8330C>T (p.Pro2777Leu)
|
|
|
NM_004415.4(DSP):c.8342T>C (p.Leu2781Ser)
|
|
|
NM_004415.4(DSP):c.8346A>T (p.Lys2782Asn)
|
|
|
NM_004415.4(DSP):c.8363C>T (p.Ala2788Val)
|
rs748307773
|
|
NM_004415.4(DSP):c.836C>T (p.Thr279Met)
|
rs1758829264
|
|
NM_004415.4(DSP):c.8371C>G (p.Arg2791Gly)
|
rs867430601
|
|
NM_004415.4(DSP):c.8371C>T (p.Arg2791Cys)
|
rs867430601
|
|
NM_004415.4(DSP):c.8386G>A (p.Asp2796Asn)
|
|
|
NM_004415.4(DSP):c.8386G>C (p.Asp2796His)
|
|
|
NM_004415.4(DSP):c.8387A>G (p.Asp2796Gly)
|
|
|
NM_004415.4(DSP):c.8387A>T (p.Asp2796Val)
|
rs888716643
|
|
NM_004415.4(DSP):c.8390del (p.Ile2797fs)
|
|
|
NM_004415.4(DSP):c.8392A>T (p.Thr2798Ser)
|
rs771976131
|
|
NM_004415.4(DSP):c.8396G>C (p.Gly2799Ala)
|
|
|
NM_004415.4(DSP):c.8401C>T (p.Arg2801Cys)
|
rs760215987
|
|
NM_004415.4(DSP):c.8414C>G (p.Ala2805Gly)
|
|
|
NM_004415.4(DSP):c.8417C>T (p.Ala2806Val)
|
|
|
NM_004415.4(DSP):c.8426C>T (p.Ser2809Leu)
|
|
|
NM_004415.4(DSP):c.8438T>C (p.Leu2813Ser)
|
|
|
NM_004415.4(DSP):c.8440C>A (p.Pro2814Thr)
|
rs1303168294
|
|
NM_004415.4(DSP):c.8442dup (p.Ser2815fs)
|
rs1554109247
|
|
NM_004415.4(DSP):c.8450A>G (p.Tyr2817Cys)
|
|
|
NM_004415.4(DSP):c.8450ACA[1] (p.Asn2818del)
|
|
|
NM_004415.4(DSP):c.8455A>G (p.Met2819Val)
|
rs138329459
|
|
NM_004415.4(DSP):c.8462_8463del (p.Ser2821fs)
|
rs2113705206
|
|
NM_004415.4(DSP):c.8468C>T (p.Pro2823Leu)
|
rs1404710139
|
|
NM_004415.4(DSP):c.8469_8487del (p.Gly2824fs)
|
rs2113705210
|
|
NM_004415.4(DSP):c.8471_8483del (p.Gly2824fs)
|
rs1759642975
|
|
NM_004415.4(DSP):c.8472_8495del (p.2827SGSR[3])
|
rs1267022420
|
|
NM_004415.4(DSP):c.8476C>A (p.Arg2826Ser)
|
rs139969658
|
|
NM_004415.4(DSP):c.8480C>T (p.Ser2827Phe)
|
rs746773800
|
|
NM_004415.4(DSP):c.8482G>C (p.Gly2828Arg)
|
rs369682599
|
|
NM_004415.4(DSP):c.8484_8507del (p.2827SGSR[3])
|
|
|
NM_004415.4(DSP):c.8486C>G (p.Ser2829Cys)
|
rs2113705415
|
|
NM_004415.4(DSP):c.8488C>A (p.Arg2830Ser)
|
rs1354218745
|
|
NM_004415.4(DSP):c.8488C>T (p.Arg2830Cys)
|
rs1354218745
|
|
NM_004415.4(DSP):c.848T>G (p.Ile283Ser)
|
|
|
NM_004415.4(DSP):c.8493_8504dup (p.2827_2830SGSR[6])
|
rs748194022
|
|
NM_004415.4(DSP):c.8493_8516del (p.2827_2830SGSR[3])
|
rs1554109280
|
|
NM_004415.4(DSP):c.8496ATCTCGCTCCGG[3] (p.2827SGSR[6])
|
rs397516971
|
|
NM_004415.4(DSP):c.8496_8500dup (p.Arg2834fs)
|
|
|
NM_004415.4(DSP):c.8506G>A (p.Gly2836Arg)
|
|
|
NM_004415.4(DSP):c.8513G>A (p.Arg2838His)
|
rs930055191
|
|
NM_004415.4(DSP):c.8516C>T (p.Ser2839Phe)
|
rs750438076
|
|
NM_004415.4(DSP):c.8524C>G (p.Arg2842Gly)
|
|
|
NM_004415.4(DSP):c.8525G>A (p.Arg2842His)
|
|
|
NM_004415.4(DSP):c.852G>A (p.Met284Ile)
|
rs794728110
|
|
NM_004415.4(DSP):c.8531G>T (p.Gly2844Val)
|
rs374137476
|
|
NM_004415.4(DSP):c.8536C>T (p.Arg2846Trp)
|
|
|
NM_004415.4(DSP):c.8552A>G (p.Asp2851Gly)
|
|
|
NM_004415.4(DSP):c.8573A>G (p.Tyr2858Cys)
|
rs1759654706
|
|
NM_004415.4(DSP):c.8577_8588del (p.2858YS[1])
|
rs2113705755
|
|
NM_004415.4(DSP):c.8579A>G (p.Tyr2860Cys)
|
|
|
NM_004415.4(DSP):c.8583del (p.Tyr2862fs)
|
rs765683790
|
|
NM_004415.4(DSP):c.8588C>T (p.Ser2863Leu)
|
|
|
NM_004415.4(DSP):c.8596AGT[1] (p.Ser2868del)
|
|
|
NM_004415.4(DSP):c.859A>C (p.Asn287His)
|
rs1554106503
|
|
NM_004415.4(DSP):c.8602T>A (p.Ser2868Thr)
|
rs1554109346
|
|
NM_004415.4(DSP):c.860A>C (p.Asn287Thr)
|
|
|
NM_004415.4(DSP):c.865T>C (p.Cys289Arg)
|
|
|
NM_004415.4(DSP):c.868G>A (p.Glu290Lys)
|
rs397516974
|
|
NM_004415.4(DSP):c.868GAG[5] (p.Glu293dup)
|
rs1561685368
|
|
NM_004415.4(DSP):c.889G>C (p.Asp297His)
|
rs201930322
|
|
NM_004415.4(DSP):c.889G>T (p.Asp297Tyr)
|
rs201930322
|
|
NM_004415.4(DSP):c.892T>G (p.Trp298Gly)
|
|
|
NM_004415.4(DSP):c.8G>A (p.Cys3Tyr)
|
rs760993985
|
|
NM_004415.4(DSP):c.905A>T (p.Asn302Ile)
|
|
|
NM_004415.4(DSP):c.910A>C (p.Asn304His)
|
rs2113669485
|
|
NM_004415.4(DSP):c.913A>G (p.Ile305Val)
|
rs17604693
|
|
NM_004415.4(DSP):c.922A>C (p.Lys308Gln)
|
rs1060500617
|
|
NM_004415.4(DSP):c.931G>C (p.Ala311Pro)
|
|
|
NM_004415.4(DSP):c.935_937del (p.Phe312del)
|
rs794728138
|
|
NM_004415.4(DSP):c.939+2_939+3insCC
|
rs2113669596
|
|
NM_004415.4(DSP):c.939+4A>C
|
|
|
NM_004415.4(DSP):c.940-7T>G
|
rs1368622056
|
|
NM_004415.4(DSP):c.944G>C (p.Arg315Pro)
|
|
|
NM_004415.4(DSP):c.944_945delinsAA (p.Arg315Gln)
|
|
|
NM_004415.4(DSP):c.94A>G (p.Ser32Gly)
|
rs2113628871
|
|
NM_004415.4(DSP):c.950G>C (p.Ser317Thr)
|
|
|
NM_004415.4(DSP):c.954A>C (p.Gln318His)
|
rs1023875624
|
|
NM_004415.4(DSP):c.955C>G (p.Leu319Val)
|
rs777852039
|
|
NM_004415.4(DSP):c.956T>C (p.Leu319Pro)
|
|
|
NM_004415.4(DSP):c.962T>A (p.Val321Asp)
|
|
|
NM_004415.4(DSP):c.968A>G (p.Glu323Gly)
|
rs1064795408
|
|
NM_004415.4(DSP):c.969_974del (p.322KE[1])
|
|
|
NM_004415.4(DSP):c.979A>G (p.Asn327Asp)
|
rs794727915
|
|
NM_004415.4(DSP):c.97G>A (p.Gly33Ser)
|
rs1581777550
|
|
NM_004415.4(DSP):c.986T>C (p.Leu329Pro)
|
|
|
NM_004415.4(DSP):c.992A>C (p.Gln331Pro)
|
rs746517026
|
|
NM_004415.4(DSP):c.998G>C (p.Ser333Thr)
|
rs749695729
|
|