NM_004415.4(DSP):c.8472G>C (p.Gly2824=)
|
rs2744380
|
0.68624
|
NM_004415.4(DSP):c.1206G>A (p.Lys402=)
|
rs150422458
|
0.00185
|
NM_004415.4(DSP):c.2773C>T (p.Arg925Trp)
|
rs145933612
|
0.00143
|
NM_004415.4(DSP):c.6678T>A (p.Gly2226=)
|
rs149070106
|
0.00139
|
NM_004415.4(DSP):c.2346C>T (p.Asp782=)
|
rs139071827
|
0.00126
|
NM_004415.4(DSP):c.4065T>C (p.Tyr1355=)
|
rs148478829
|
0.00073
|
NM_004415.4(DSP):c.1574+14G>T
|
rs200443042
|
0.00048
|
NM_004415.4(DSP):c.8019C>T (p.Asp2673=)
|
rs144275591
|
0.00047
|
NM_004415.4(DSP):c.8301C>G (p.Thr2767=)
|
rs145362059
|
0.00046
|
NM_004415.4(DSP):c.2683T>C (p.Tyr895His)
|
rs375891215
|
0.00043
|
NM_004415.4(DSP):c.3123C>T (p.Leu1041=)
|
rs149929637
|
0.00042
|
NM_004415.4(DSP):c.5167G>C (p.Glu1723Gln)
|
rs142803672
|
0.00041
|
NM_004415.4(DSP):c.2288A>G (p.Tyr763Cys)
|
rs113967308
|
0.00034
|
NM_004415.4(DSP):c.273+5G>A
|
rs200473206
|
0.00031
|
NM_004415.4(DSP):c.1696G>A (p.Ala566Thr)
|
rs148147581
|
0.00026
|
NM_004415.4(DSP):c.-157G>A
|
rs886061742
|
0.00025
|
NM_004415.4(DSP):c.2422C>T (p.Arg808Cys)
|
rs150339369
|
0.00021
|
NM_004415.4(DSP):c.5035C>T (p.His1679Tyr)
|
rs762561997
|
0.00021
|
NM_004415.4(DSP):c.8467C>G (p.Pro2823Ala)
|
rs142717240
|
0.00020
|
NM_004415.4(DSP):c.1344G>A (p.Leu448=)
|
rs138226280
|
0.00019
|
NM_004415.4(DSP):c.6247C>T (p.Arg2083Cys)
|
rs370093129
|
0.00019
|
NM_004415.4(DSP):c.2468C>T (p.Ser823Leu)
|
rs141834182
|
0.00016
|
NM_004415.4(DSP):c.4775A>G (p.Lys1592Arg)
|
rs200421954
|
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_004415.4(DSP):c.943C>T (p.Arg315Cys)
|
rs200476515
|
0.00016
|
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.3862A>C (p.Lys1288Gln)
|
rs138907450
|
0.00014
|
NM_004415.4(DSP):c.521G>T (p.Cys174Phe)
|
rs377507763
|
0.00014
|
NM_004415.4(DSP):c.889G>A (p.Asp297Asn)
|
rs201930322
|
0.00014
|
NM_004415.4(DSP):c.*577G>A
|
rs886061755
|
0.00013
|
NM_004415.4(DSP):c.1575-15C>G
|
rs369184165
|
0.00013
|
NM_004415.4(DSP):c.251G>A (p.Arg84Gln)
|
rs373736975
|
0.00013
|
NM_004415.4(DSP):c.2552T>A (p.Leu851Gln)
|
rs111368396
|
0.00013
|
NM_004415.4(DSP):c.2774G>A (p.Arg925Gln)
|
rs139799237
|
0.00013
|
NM_004415.4(DSP):c.3562T>C (p.Tyr1188His)
|
rs141508330
|
0.00013
|
NM_004415.4(DSP):c.*289C>T
|
rs886061749
|
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_004415.4(DSP):c.7125G>A (p.Gly2375=)
|
rs141709096
|
0.00012
|
NM_004415.4(DSP):c.1483G>A (p.Val495Met)
|
rs372014020
|
0.00011
|
NM_004415.4(DSP):c.5744G>A (p.Arg1915His)
|
rs146617683
|
0.00011
|
NM_004415.4(DSP):c.6566G>A (p.Arg2189Gln)
|
rs766933370
|
0.00011
|
NM_004415.4(DSP):c.3146C>T (p.Ser1049Leu)
|
rs751361395
|
0.00010
|
NM_004415.4(DSP):c.3616T>A (p.Leu1206Ile)
|
rs151115778
|
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_004415.4(DSP):c.*58T>C
|
rs753281894
|
0.00009
|
NM_004415.4(DSP):c.2799G>C (p.Leu933Phe)
|
rs372922674
|
0.00009
|
NM_004415.4(DSP):c.4175G>A (p.Arg1392Gln)
|
rs201736018
|
0.00009
|
NM_004415.4(DSP):c.424C>T (p.Leu142Phe)
|
rs373769397
|
0.00009
|
NM_004415.4(DSP):c.5513G>A (p.Arg1838His)
|
rs377715841
|
0.00009
|
NM_004415.4(DSP):c.5523A>C (p.Ser1841=)
|
rs730882116
|
0.00009
|
NM_004415.4(DSP):c.5617C>T (p.Arg1873Cys)
|
rs144392839
|
0.00009
|
NM_004415.4(DSP):c.7852C>T (p.Pro2618Ser)
|
rs376005629
|
0.00009
|
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_004415.4(DSP):c.5316T>C (p.Asp1772=)
|
rs376186141
|
0.00008
|
NM_004415.4(DSP):c.7552G>A (p.Val2518Ile)
|
rs757394666
|
0.00008
|
NM_004415.4(DSP):c.2941A>G (p.Lys981Glu)
|
rs747580402
|
0.00007
|
NM_004415.4(DSP):c.3102C>T (p.Ile1034=)
|
rs569974617
|
0.00007
|
NM_004415.4(DSP):c.4901G>A (p.Arg1634Gln)
|
rs144106775
|
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_004415.4(DSP):c.2122G>A (p.Glu708Lys)
|
rs773113261
|
0.00006
|
NM_004415.4(DSP):c.259C>G (p.Leu87Val)
|
rs377652477
|
0.00006
|
NM_004415.4(DSP):c.3294C>G (p.Asp1098Glu)
|
rs535762713
|
0.00006
|
NM_004415.4(DSP):c.3304G>A (p.Gly1102Ser)
|
rs2491079
|
0.00006
|
NM_004415.4(DSP):c.3338G>A (p.Arg1113Gln)
|
rs768455823
|
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.4793T>A (p.Leu1598Gln)
|
rs369449858
|
0.00006
|
NM_004415.4(DSP):c.5197G>A (p.Asp1733Asn)
|
rs138588403
|
0.00006
|
NM_004415.4(DSP):c.5417C>G (p.Thr1806Ser)
|
rs149773722
|
0.00006
|
NM_004415.4(DSP):c.6188G>A (p.Arg2063Gln)
|
rs142927608
|
0.00006
|
NM_004415.4(DSP):c.6511A>G (p.Asn2171Asp)
|
rs149827779
|
0.00006
|
NM_004415.4(DSP):c.*62A>T
|
rs182788116
|
0.00005
|
NM_004415.4(DSP):c.2247A>G (p.Leu749=)
|
rs28763963
|
0.00005
|
NM_004415.4(DSP):c.3507C>T (p.Tyr1169=)
|
rs148894066
|
0.00005
|
NM_004415.4(DSP):c.3971A>T (p.Asn1324Ile)
|
rs749820299
|
0.00005
|
NM_004415.4(DSP):c.5063C>T (p.Ala1688Val)
|
rs372288373
|
0.00005
|
NM_004415.4(DSP):c.5221G>A (p.Ala1741Thr)
|
rs777773801
|
0.00005
|
NM_004415.4(DSP):c.5285G>A (p.Arg1762Gln)
|
rs751849031
|
0.00005
|
NM_004415.4(DSP):c.643G>A (p.Glu215Lys)
|
rs148095061
|
0.00005
|
NM_004415.4(DSP):c.6452G>A (p.Arg2151Gln)
|
rs367759510
|
0.00005
|
NM_004415.4(DSP):c.6565C>T (p.Arg2189Trp)
|
rs767661570
|
0.00005
|
NM_004415.4(DSP):c.6718C>G (p.Gln2240Glu)
|
rs374262024
|
0.00005
|
NM_004415.4(DSP):c.8255G>A (p.Arg2752Gln)
|
rs769706539
|
0.00005
|
NM_004415.4(DSP):c.8281G>A (p.Ala2761Thr)
|
rs376751288
|
0.00005
|
NM_004415.4(DSP):c.8462C>T (p.Ser2821Leu)
|
rs201826850
|
0.00005
|
NM_004415.4(DSP):c.8507G>A (p.Gly2836Glu)
|
rs764232504
|
0.00005
|
NM_004415.4(DSP):c.8524C>T (p.Arg2842Cys)
|
rs144850908
|
0.00005
|
NM_004415.4(DSP):c.916G>A (p.Ala306Thr)
|
rs368193211
|
0.00005
|
NM_004415.4(DSP):c.1222A>C (p.Asn408His)
|
rs142129767
|
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.1469G>A (p.Arg490His)
|
rs747815091
|
0.00004
|
NM_004415.4(DSP):c.2308G>A (p.Val770Ile)
|
rs1225927424
|
0.00004
|
NM_004415.4(DSP):c.2360A>G (p.Tyr787Cys)
|
rs778350289
|
0.00004
|
NM_004415.4(DSP):c.2622C>G (p.Ile874Met)
|
rs751067479
|
0.00004
|
NM_004415.4(DSP):c.264C>T (p.Ile88=)
|
rs727502997
|
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.4696C>G (p.Leu1566Val)
|
rs201785897
|
0.00004
|
NM_004415.4(DSP):c.4819G>A (p.Glu1607Lys)
|
rs750054075
|
0.00004
|
NM_004415.4(DSP):c.4996C>T (p.Arg1666Trp)
|
rs758312365
|
0.00004
|
NM_004415.4(DSP):c.4997G>A (p.Arg1666Gln)
|
rs768577891
|
0.00004
|
NM_004415.4(DSP):c.5173C>T (p.Arg1725Trp)
|
rs200336897
|
0.00004
|
NM_004415.4(DSP):c.5194G>A (p.Asp1732Asn)
|
rs780224658
|
0.00004
|
NM_004415.4(DSP):c.5222C>T (p.Ala1741Val)
|
rs749124581
|
0.00004
|
NM_004415.4(DSP):c.5522C>T (p.Ser1841Leu)
|
rs397516947
|
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.6442G>A (p.Ala2148Thr)
|
rs144539278
|
0.00004
|
NM_004415.4(DSP):c.6595C>T (p.Leu2199Phe)
|
rs549451471
|
0.00004
|
NM_004415.4(DSP):c.7738G>T (p.Asp2580Tyr)
|
rs371129517
|
0.00004
|
NM_004415.4(DSP):c.7970C>T (p.Thr2657Ile)
|
rs1478775642
|
0.00004
|
NM_004415.4(DSP):c.8084T>A (p.Phe2695Tyr)
|
rs764994940
|
0.00004
|
NM_004415.4(DSP):c.8117A>T (p.Lys2706Met)
|
rs537588390
|
0.00004
|
NM_004415.4(DSP):c.8209G>C (p.Val2737Leu)
|
rs149123428
|
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_004415.4(DSP):c.*358A>T
|
rs886061752
|
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.1630A>C (p.Met544Leu)
|
rs201960323
|
0.00003
|
NM_004415.4(DSP):c.1743C>T (p.Ala581=)
|
rs139095230
|
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.2047G>A (p.Glu683Lys)
|
rs775181391
|
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.2546A>G (p.Tyr849Cys)
|
rs778636665
|
0.00003
|
NM_004415.4(DSP):c.2566T>C (p.Phe856Leu)
|
rs779253041
|
0.00003
|
NM_004415.4(DSP):c.256G>C (p.Glu86Gln)
|
rs764993760
|
0.00003
|
NM_004415.4(DSP):c.2720G>A (p.Arg907His)
|
rs774665110
|
0.00003
|
NM_004415.4(DSP):c.3153C>A (p.Asn1051Lys)
|
rs563387839
|
0.00003
|
NM_004415.4(DSP):c.3275C>T (p.Ser1092Leu)
|
rs755481878
|
0.00003
|
NM_004415.4(DSP):c.344A>G (p.Asn115Ser)
|
rs28763958
|
0.00003
|
NM_004415.4(DSP):c.3551G>A (p.Arg1184Gln)
|
rs147909031
|
0.00003
|
NM_004415.4(DSP):c.3760G>A (p.Val1254Ile)
|
rs778448699
|
0.00003
|
NM_004415.4(DSP):c.4019G>A (p.Arg1340His)
|
rs765247380
|
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.4373G>A (p.Arg1458Gln)
|
rs370063434
|
0.00003
|
NM_004415.4(DSP):c.4492A>G (p.Lys1498Glu)
|
rs794728122
|
0.00003
|
NM_004415.4(DSP):c.484C>T (p.Arg162Cys)
|
rs760711308
|
0.00003
|
NM_004415.4(DSP):c.485G>T (p.Arg162Leu)
|
rs397516944
|
0.00003
|
NM_004415.4(DSP):c.5019A>T (p.Glu1673Asp)
|
rs773113214
|
0.00003
|
NM_004415.4(DSP):c.5066T>C (p.Ile1689Thr)
|
rs869025394
|
0.00003
|
NM_004415.4(DSP):c.55C>A (p.Arg19Ser)
|
rs777340009
|
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.5899G>A (p.Val1967Met)
|
rs397516949
|
0.00003
|
NM_004415.4(DSP):c.6062C>G (p.Ala2021Gly)
|
rs760673242
|
0.00003
|
NM_004415.4(DSP):c.607G>A (p.Asp203Asn)
|
rs374100807
|
0.00003
|
NM_004415.4(DSP):c.6187C>G (p.Arg2063Gly)
|
rs374090050
|
0.00003
|
NM_004415.4(DSP):c.6248G>A (p.Arg2083His)
|
rs574637009
|
0.00003
|
NM_004415.4(DSP):c.6368G>A (p.Arg2123His)
|
rs142272846
|
0.00003
|
NM_004415.4(DSP):c.6935T>C (p.Val2312Ala)
|
rs886061748
|
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.7123G>A (p.Gly2375Arg)
|
rs376923069
|
0.00003
|
NM_004415.4(DSP):c.7588A>T (p.Ile2530Phe)
|
rs397516958
|
0.00003
|
NM_004415.4(DSP):c.7826T>C (p.Phe2609Ser)
|
rs397516959
|
0.00003
|
NM_004415.4(DSP):c.7915C>T (p.Arg2639Trp)
|
rs771553674
|
0.00003
|
NM_004415.4(DSP):c.8030A>G (p.Gln2677Arg)
|
rs749806703
|
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_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.1149A>G (p.Glu383=)
|
rs572980966
|
0.00002
|
NM_004415.4(DSP):c.130C>T (p.Arg44Trp)
|
rs1255744065
|
0.00002
|
NM_004415.4(DSP):c.1419+5G>C
|
rs1004508873
|
0.00002
|
NM_004415.4(DSP):c.1493C>T (p.Pro498Leu)
|
rs761051181
|
0.00002
|
NM_004415.4(DSP):c.1522G>A (p.Val508Met)
|
rs751537483
|
0.00002
|
NM_004415.4(DSP):c.1732A>C (p.Lys578Gln)
|
rs761478865
|
0.00002
|
NM_004415.4(DSP):c.1744G>A (p.Asp582Asn)
|
rs756671027
|
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.2000G>C (p.Trp667Ser)
|
rs760214732
|
0.00002
|
NM_004415.4(DSP):c.2027G>A (p.Arg676His)
|
rs777782794
|
0.00002
|
NM_004415.4(DSP):c.2046C>T (p.Cys682=)
|
rs771674559
|
0.00002
|
NM_004415.4(DSP):c.2234A>G (p.Glu745Gly)
|
rs969462343
|
0.00002
|
NM_004415.4(DSP):c.2329A>G (p.Ile777Val)
|
rs755860619
|
0.00002
|
NM_004415.4(DSP):c.2443A>G (p.Lys815Glu)
|
rs774638728
|
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.2771T>C (p.Met924Thr)
|
rs752816142
|
0.00002
|
NM_004415.4(DSP):c.3147G>A (p.Ser1049=)
|
rs756341143
|
0.00002
|
NM_004415.4(DSP):c.3303C>T (p.Tyr1101=)
|
rs372440854
|
0.00002
|
NM_004415.4(DSP):c.3766C>T (p.Leu1256Phe)
|
rs775080202
|
0.00002
|
NM_004415.4(DSP):c.3774C>A (p.Asp1258Glu)
|
rs748733750
|
0.00002
|
NM_004415.4(DSP):c.3800G>A (p.Arg1267Gln)
|
rs759698959
|
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.3912G>C (p.Glu1304Asp)
|
rs764189408
|
0.00002
|
NM_004415.4(DSP):c.3954G>A (p.Lys1318=)
|
rs866656949
|
0.00002
|
NM_004415.4(DSP):c.4233G>C (p.Arg1411Ser)
|
rs771721410
|
0.00002
|
NM_004415.4(DSP):c.4275G>T (p.Arg1425Ser)
|
rs763489227
|
0.00002
|
NM_004415.4(DSP):c.4466T>G (p.Leu1489Arg)
|
rs746782582
|
0.00002
|
NM_004415.4(DSP):c.4471G>A (p.Asp1491Asn)
|
rs768402359
|
0.00002
|
NM_004415.4(DSP):c.4478A>C (p.Glu1493Ala)
|
rs760433367
|
0.00002
|
NM_004415.4(DSP):c.449G>A (p.Arg150Gln)
|
rs587782940
|
0.00002
|
NM_004415.4(DSP):c.4514C>T (p.Ala1505Val)
|
rs375919492
|
0.00002
|
NM_004415.4(DSP):c.4565C>T (p.Thr1522Met)
|
rs375150075
|
0.00002
|
NM_004415.4(DSP):c.4610G>A (p.Arg1537His)
|
rs762135558
|
0.00002
|
NM_004415.4(DSP):c.4657G>A (p.Asp1553Asn)
|
rs730880084
|
0.00002
|
NM_004415.4(DSP):c.4670C>T (p.Thr1557Met)
|
rs747582734
|
0.00002
|
NM_004415.4(DSP):c.467T>A (p.Ile156Asn)
|
rs767692014
|
0.00002
|
NM_004415.4(DSP):c.4808G>A (p.Arg1603Lys)
|
rs869025393
|
0.00002
|
NM_004415.4(DSP):c.4867T>C (p.Ser1623Pro)
|
rs749679496
|
0.00002
|
NM_004415.4(DSP):c.4886G>T (p.Ser1629Ile)
|
rs200243976
|
0.00002
|
NM_004415.4(DSP):c.4991T>G (p.Leu1664Arg)
|
rs746139953
|
0.00002
|
NM_004415.4(DSP):c.5009A>G (p.Gln1670Arg)
|
rs1052973336
|
0.00002
|
NM_004415.4(DSP):c.5084G>A (p.Ser1695Asn)
|
rs758637843
|
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.5383T>A (p.Ser1795Thr)
|
rs764279057
|
0.00002
|
NM_004415.4(DSP):c.5726T>C (p.Ile1909Thr)
|
rs752360866
|
0.00002
|
NM_004415.4(DSP):c.5932A>G (p.Met1978Val)
|
rs770077556
|
0.00002
|
NM_004415.4(DSP):c.5935C>G (p.Gln1979Glu)
|
rs773436512
|
0.00002
|
NM_004415.4(DSP):c.6100G>A (p.Ala2034Thr)
|
rs1043978096
|
0.00002
|
NM_004415.4(DSP):c.6269A>G (p.Glu2090Gly)
|
rs755069593
|
0.00002
|
NM_004415.4(DSP):c.6397G>A (p.Gly2133Ser)
|
rs372393122
|
0.00002
|
NM_004415.4(DSP):c.6451C>T (p.Arg2151Trp)
|
rs181608152
|
0.00002
|
NM_004415.4(DSP):c.6476A>T (p.Tyr2159Phe)
|
rs1581822548
|
0.00002
|
NM_004415.4(DSP):c.6542T>C (p.Val2181Ala)
|
rs730880088
|
0.00002
|
NM_004415.4(DSP):c.668G>A (p.Gly223Asp)
|
rs199509943
|
0.00002
|
NM_004415.4(DSP):c.7117G>A (p.Ala2373Thr)
|
rs373965771
|
0.00002
|
NM_004415.4(DSP):c.7184G>A (p.Gly2395Asp)
|
rs777930834
|
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.7622G>A (p.Arg2541Lys)
|
rs142078450
|
0.00002
|
NM_004415.4(DSP):c.7883T>C (p.Leu2628Pro)
|
rs147484870
|
0.00002
|
NM_004415.4(DSP):c.7924G>A (p.Val2642Ile)
|
rs869025397
|
0.00002
|
NM_004415.4(DSP):c.8042A>C (p.Asp2681Ala)
|
rs746166372
|
0.00002
|
NM_004415.4(DSP):c.8044C>G (p.Gln2682Glu)
|
rs772365921
|
0.00002
|
NM_004415.4(DSP):c.8233A>G (p.Ile2745Val)
|
rs747284663
|
0.00002
|
NM_004415.4(DSP):c.82T>G (p.Tyr28Asp)
|
rs766454930
|
0.00002
|
NM_004415.4(DSP):c.8374T>A (p.Ser2792Thr)
|
rs727504570
|
0.00002
|
NM_004415.4(DSP):c.8402G>A (p.Arg2801His)
|
rs763712887
|
0.00002
|
NM_004415.4(DSP):c.8536C>G (p.Arg2846Gly)
|
rs397516972
|
0.00002
|
NM_004415.4(DSP):c.*112A>G
|
rs141059005
|
0.00001
|
NM_004415.4(DSP):c.*137T>C
|
rs756543548
|
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.1051A>G (p.Met351Val)
|
rs1372435657
|
0.00001
|
NM_004415.4(DSP):c.106G>A (p.Gly36Ser)
|
rs1395509692
|
0.00001
|
NM_004415.4(DSP):c.1102A>T (p.Ile368Phe)
|
rs794728112
|
0.00001
|
NM_004415.4(DSP):c.1136T>C (p.Phe379Ser)
|
rs1064795084
|
0.00001
|
NM_004415.4(DSP):c.117G>T (p.Arg39Ser)
|
rs748578019
|
0.00001
|
NM_004415.4(DSP):c.1197C>G (p.Ile399Met)
|
rs375828592
|
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.136G>A (p.Gly46Ser)
|
rs371517189
|
0.00001
|
NM_004415.4(DSP):c.1378C>G (p.Pro460Ala)
|
rs749422119
|
0.00001
|
NM_004415.4(DSP):c.1465G>A (p.Glu489Lys)
|
rs904467199
|
0.00001
|
NM_004415.4(DSP):c.1468C>T (p.Arg490Cys)
|
rs781084693
|
0.00001
|
NM_004415.4(DSP):c.146C>G (p.Thr49Ser)
|
rs151153655
|
0.00001
|
NM_004415.4(DSP):c.1472G>A (p.Ser491Asn)
|
rs930342643
|
0.00001
|
NM_004415.4(DSP):c.1502T>C (p.Val501Ala)
|
rs544017143
|
0.00001
|
NM_004415.4(DSP):c.1553T>G (p.Leu518Arg)
|
rs1758969230
|
0.00001
|
NM_004415.4(DSP):c.1562A>C (p.Asp521Ala)
|
rs748790273
|
0.00001
|
NM_004415.4(DSP):c.1564C>G (p.Leu522Val)
|
rs1230995902
|
0.00001
|
NM_004415.4(DSP):c.1568C>T (p.Ser523Phe)
|
rs1276338018
|
0.00001
|
NM_004415.4(DSP):c.1574+3A>G
|
rs1231896749
|
0.00001
|
NM_004415.4(DSP):c.1582C>G (p.Gln528Glu)
|
rs1267435790
|
0.00001
|
NM_004415.4(DSP):c.1671A>G (p.Ile557Met)
|
rs766505506
|
0.00001
|
NM_004415.4(DSP):c.1714C>T (p.Arg572Trp)
|
rs796851273
|
0.00001
|
NM_004415.4(DSP):c.1715G>A (p.Arg572Gln)
|
rs370531666
|
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.1731G>A (p.Met577Ile)
|
rs794728101
|
0.00001
|
NM_004415.4(DSP):c.17G>A (p.Gly6Asp)
|
rs1339636876
|
0.00001
|
NM_004415.4(DSP):c.181A>G (p.Thr61Ala)
|
rs1380249575
|
0.00001
|
NM_004415.4(DSP):c.182C>T (p.Thr61Met)
|
rs200250096
|
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.197A>T (p.Gln66Leu)
|
rs794728152
|
0.00001
|
NM_004415.4(DSP):c.2023A>G (p.Ile675Val)
|
rs142619902
|
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.2071C>T (p.Leu691Phe)
|
rs1363445022
|
0.00001
|
NM_004415.4(DSP):c.2077C>G (p.Leu693Val)
|
rs1339486272
|
0.00001
|
NM_004415.4(DSP):c.2081C>T (p.Ala694Val)
|
rs543446763
|
0.00001
|
NM_004415.4(DSP):c.2131-5G>C
|
rs767939332
|
0.00001
|
NM_004415.4(DSP):c.2158G>T (p.Ala720Ser)
|
rs1180846023
|
0.00001
|
NM_004415.4(DSP):c.2186T>C (p.Met729Thr)
|
rs758200210
|
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.2260G>A (p.Glu754Lys)
|
rs730880080
|
0.00001
|
NM_004415.4(DSP):c.2298-3C>T
|
rs1300722110
|
0.00001
|
NM_004415.4(DSP):c.2372T>C (p.Leu791Pro)
|
rs1406788095
|
0.00001
|
NM_004415.4(DSP):c.2377G>A (p.Glu793Lys)
|
rs755067397
|
0.00001
|
NM_004415.4(DSP):c.2415A>C (p.Glu805Asp)
|
rs1554107530
|
0.00001
|
NM_004415.4(DSP):c.2423G>A (p.Arg808His)
|
rs372906646
|
0.00001
|
NM_004415.4(DSP):c.2482A>G (p.Met828Val)
|
rs1338201926
|
0.00001
|
NM_004415.4(DSP):c.249G>A (p.Met83Ile)
|
rs1426930663
|
0.00001
|
NM_004415.4(DSP):c.2510A>C (p.Gln837Pro)
|
rs1202933658
|
0.00001
|
NM_004415.4(DSP):c.2515C>T (p.His839Tyr)
|
rs1561693806
|
0.00001
|
NM_004415.4(DSP):c.2550_2552dup (p.Leu851dup)
|
rs730880373
|
0.00001
|
NM_004415.4(DSP):c.2609T>C (p.Ile870Thr)
|
rs534413559
|
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.2644G>A (p.Glu882Lys)
|
rs730880081
|
0.00001
|
NM_004415.4(DSP):c.265G>A (p.Val89Met)
|
rs766022243
|
0.00001
|
NM_004415.4(DSP):c.2689G>C (p.Ala897Pro)
|
rs1008407158
|
0.00001
|
NM_004415.4(DSP):c.2698A>G (p.Lys900Glu)
|
rs371493210
|
0.00001
|
NM_004415.4(DSP):c.2728G>A (p.Asp910Asn)
|
rs775080138
|
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.2878-4G>A
|
rs758303966
|
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.3221C>T (p.Ala1074Val)
|
rs745849763
|
0.00001
|
NM_004415.4(DSP):c.3277G>A (p.Ala1093Thr)
|
rs1185986064
|
0.00001
|
NM_004415.4(DSP):c.3343A>G (p.Thr1115Ala)
|
rs761524542
|
0.00001
|
NM_004415.4(DSP):c.3379T>C (p.Ser1127Pro)
|
rs1581815458
|
0.00001
|
NM_004415.4(DSP):c.3526G>T (p.Val1176Phe)
|
rs1261167694
|
0.00001
|
NM_004415.4(DSP):c.3530T>A (p.Leu1177Gln)
|
rs770489625
|
0.00001
|
NM_004415.4(DSP):c.3550C>T (p.Arg1184Trp)
|
rs761331634
|
0.00001
|
NM_004415.4(DSP):c.3601G>A (p.Glu1201Lys)
|
rs751566392
|
0.00001
|
NM_004415.4(DSP):c.3605A>T (p.Glu1202Val)
|
rs374266534
|
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.3740G>A (p.Arg1247Gln)
|
rs867067755
|
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.386G>A (p.Arg129Gln)
|
rs749155619
|
0.00001
|
NM_004415.4(DSP):c.38C>T (p.Thr13Ile)
|
rs201133637
|
0.00001
|
NM_004415.4(DSP):c.3905G>A (p.Arg1302His)
|
rs760691999
|
0.00001
|
NM_004415.4(DSP):c.3919G>A (p.Ala1307Thr)
|
rs367579811
|
0.00001
|
NM_004415.4(DSP):c.4021C>T (p.Arg1341Cys)
|
rs547568275
|
0.00001
|
NM_004415.4(DSP):c.4043T>G (p.Leu1348Arg)
|
rs767003564
|
0.00001
|
NM_004415.4(DSP):c.4046G>A (p.Ser1349Asn)
|
rs144465638
|
0.00001
|
NM_004415.4(DSP):c.4061A>G (p.Asn1354Ser)
|
rs746333083
|
0.00001
|
NM_004415.4(DSP):c.408T>G (p.Asp136Glu)
|
rs774188472
|
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.4433A>G (p.Asp1478Gly)
|
rs767339003
|
0.00001
|
NM_004415.4(DSP):c.4448T>C (p.Ile1483Thr)
|
rs745872344
|
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.4666A>G (p.Ile1556Val)
|
rs530647574
|
0.00001
|
NM_004415.4(DSP):c.4671G>A (p.Thr1557=)
|
rs367767551
|
0.00001
|
NM_004415.4(DSP):c.4684T>C (p.Ser1562Pro)
|
rs1394590334
|
0.00001
|
NM_004415.4(DSP):c.4735C>T (p.Arg1579Trp)
|
rs755868373
|
0.00001
|
NM_004415.4(DSP):c.4748C>G (p.Thr1583Ser)
|
rs778603023
|
0.00001
|
NM_004415.4(DSP):c.4754C>T (p.Ser1585Leu)
|
rs773622004
|
0.00001
|
NM_004415.4(DSP):c.479G>A (p.Arg160Gln)
|
rs752941845
|
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.4961T>C (p.Leu1654Pro)
|
rs749730642
|
0.00001
|
NM_004415.4(DSP):c.5014C>G (p.Gln1672Glu)
|
rs786205416
|
0.00001
|
NM_004415.4(DSP):c.5062G>A (p.Ala1688Thr)
|
rs757753880
|
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.5217C>T (p.Ser1739=)
|
rs748263306
|
0.00001
|
NM_004415.4(DSP):c.5242A>G (p.Thr1748Ala)
|
rs1315952619
|
0.00001
|
NM_004415.4(DSP):c.5283C>T (p.Asn1761=)
|
rs763355815
|
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.5412G>T (p.Gln1804His)
|
rs779809935
|
0.00001
|
NM_004415.4(DSP):c.5485C>G (p.Leu1829Val)
|
rs769284245
|
0.00001
|
NM_004415.4(DSP):c.5647T>C (p.Ser1883Pro)
|
rs1056652234
|
0.00001
|
NM_004415.4(DSP):c.5649G>A (p.Ser1883=)
|
rs760974941
|
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.5794C>T (p.Arg1932Cys)
|
rs748825632
|
0.00001
|
NM_004415.4(DSP):c.5804A>G (p.Tyr1935Cys)
|
rs777048976
|
0.00001
|
NM_004415.4(DSP):c.5820T>C (p.Asp1940=)
|
rs763026647
|
0.00001
|
NM_004415.4(DSP):c.582G>T (p.Trp194Cys)
|
rs1345570966
|
0.00001
|
NM_004415.4(DSP):c.5833C>T (p.Arg1945Cys)
|
rs1456378645
|
0.00001
|
NM_004415.4(DSP):c.5834G>A (p.Arg1945His)
|
rs759516161
|
0.00001
|
NM_004415.4(DSP):c.5875T>C (p.Trp1959Arg)
|
rs1759501923
|
0.00001
|
NM_004415.4(DSP):c.5912T>C (p.Leu1971Pro)
|
rs397516950
|
0.00001
|
NM_004415.4(DSP):c.5959G>A (p.Asp1987Asn)
|
rs759443302
|
0.00001
|
NM_004415.4(DSP):c.5976C>A (p.Asp1992Glu)
|
rs763921000
|
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.6014C>T (p.Ala2005Val)
|
rs749925817
|
0.00001
|
NM_004415.4(DSP):c.6038G>A (p.Arg2013Gln)
|
rs557263443
|
0.00001
|
NM_004415.4(DSP):c.6059G>C (p.Gly2020Ala)
|
rs1327599046
|
0.00001
|
NM_004415.4(DSP):c.6112A>C (p.Lys2038Gln)
|
rs185846631
|
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.61G>A (p.Glu21Lys)
|
rs747956457
|
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.634G>A (p.Ala212Thr)
|
rs1028793473
|
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.6455G>T (p.Gly2152Val)
|
rs1040120840
|
0.00001
|
NM_004415.4(DSP):c.6497G>A (p.Arg2166Gln)
|
rs771692503
|
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.6880G>A (p.Ala2294Thr)
|
rs1422022096
|
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.6968T>C (p.Ile2323Thr)
|
rs777901747
|
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.721G>A (p.Asp241Asn)
|
rs868293429
|
0.00001
|
NM_004415.4(DSP):c.7235C>A (p.Thr2412Asn)
|
rs775399575
|
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.7396G>A (p.Val2466Met)
|
rs745862520
|
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.7551G>A (p.Val2517=)
|
rs754127386
|
0.00001
|
NM_004415.4(DSP):c.7562A>G (p.Asp2521Gly)
|
rs758490440
|
0.00001
|
NM_004415.4(DSP):c.7583A>G (p.Tyr2528Cys)
|
rs746932951
|
0.00001
|
NM_004415.4(DSP):c.7618G>A (p.Asp2540Asn)
|
rs761136328
|
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.7767A>G (p.Ser2589=)
|
rs755928079
|
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.7847C>T (p.Ser2616Leu)
|
rs571577908
|
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.7910T>C (p.Ile2637Thr)
|
rs1229128923
|
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.8053G>T (p.Ala2685Ser)
|
rs760754021
|
0.00001
|
NM_004415.4(DSP):c.809G>A (p.Arg270Gln)
|
rs1203795810
|
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.8152C>A (p.Leu2718Ile)
|
rs727504569
|
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.8197A>T (p.Thr2733Ser)
|
rs1157650702
|
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.8217G>A (p.Pro2739=)
|
rs755508926
|
0.00001
|
NM_004415.4(DSP):c.8221G>A (p.Val2741Met)
|
rs779485431
|
0.00001
|
NM_004415.4(DSP):c.8253C>G (p.Ile2751Met)
|
rs1165200201
|
0.00001
|
NM_004415.4(DSP):c.8278G>A (p.Ala2760Thr)
|
rs991726607
|
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.8529T>C (p.Ser2843=)
|
rs780005300
|
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
|
NM_004415.4(DSP):c.9C>T (p.Cys3=)
|
rs769032973
|
0.00001
|
NC_000006.11:g.(?_7542149)_(7542338_?)dup
|
|
|
NC_000006.11:g.(?_7579782)_(7581194_?)del
|
|
|
NM_004415.3(DSP):c.-260A>G
|
rs886061738
|
|
NM_004415.4(DSP):c.*203A>G
|
rs1198624922
|
|
NM_004415.4(DSP):c.*300C>A
|
rs886061750
|
|
NM_004415.4(DSP):c.*305C>A
|
rs886061751
|
|
NM_004415.4(DSP):c.*325A>G
|
rs1759669252
|
|
NM_004415.4(DSP):c.*384C>A
|
rs886061753
|
|
NM_004415.4(DSP):c.*386G>T
|
rs886061754
|
|
NM_004415.4(DSP):c.*43T>A
|
rs373414877
|
|
NM_004415.4(DSP):c.*598G>T
|
rs886061756
|
|
NM_004415.4(DSP):c.*5_*6dup
|
|
|
NM_004415.4(DSP):c.*681C>A
|
rs886061757
|
|
NM_004415.4(DSP):c.*762G>T
|
rs1759684939
|
|
NM_004415.4(DSP):c.-104G>A
|
rs1757981061
|
|
NM_004415.4(DSP):c.-179T>C
|
rs886061741
|
|
NM_004415.4(DSP):c.-190G>T
|
rs886061740
|
|
NM_004415.4(DSP):c.-228C>A
|
rs886061739
|
|
NM_004415.4(DSP):c.-36C>A
|
rs886061743
|
|
NM_004415.4(DSP):c.-70C>T
|
rs1757982573
|
|
NM_004415.4(DSP):c.-76C>T
|
rs377133467
|
|
NM_004415.4(DSP):c.1027G>A (p.Ala343Thr)
|
|
|
NM_004415.4(DSP):c.1035C>A (p.Asp345Glu)
|
|
|
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.1060C>G (p.Leu354Val)
|
|
|
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.107G>A (p.Gly36Asp)
|
|
|
NM_004415.4(DSP):c.1084C>T (p.Leu362Phe)
|
|
|
NM_004415.4(DSP):c.1089G>C (p.Gln363His)
|
|
|
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.1106A>T (p.Asp369Val)
|
|
|
NM_004415.4(DSP):c.1108G>C (p.Val370Leu)
|
|
|
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.1126G>C (p.Ala376Pro)
|
|
|
NM_004415.4(DSP):c.1132T>A (p.Tyr378Asn)
|
|
|
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.1159T>C (p.Ser387Pro)
|
|
|
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.1204A>G (p.Lys402Glu)
|
|
|
NM_004415.4(DSP):c.1216G>A (p.Asp406Asn)
|
rs1758911711
|
|
NM_004415.4(DSP):c.1222A>T (p.Asn408Tyr)
|
|
|
NM_004415.4(DSP):c.1223A>G (p.Asn408Ser)
|
|
|
NM_004415.4(DSP):c.1229C>A (p.Pro410His)
|
|
|
NM_004415.4(DSP):c.122A>G (p.Tyr41Cys)
|
|
|
NM_004415.4(DSP):c.1232T>C (p.Leu411Pro)
|
|
|
NM_004415.4(DSP):c.1236G>A (p.Gln412=)
|
|
|
NM_004415.4(DSP):c.123_125dup (p.Tyr42_Ser43insTyr)
|
|
|
NM_004415.4(DSP):c.1241T>A (p.Leu414Gln)
|
|
|
NM_004415.4(DSP):c.1256A>G (p.Lys419Arg)
|
|
|
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.127T>C (p.Ser43Pro)
|
|
|
NM_004415.4(DSP):c.1282A>G (p.Ile428Val)
|
|
|
NM_004415.4(DSP):c.128C>G (p.Ser43Cys)
|
|
|
NM_004415.4(DSP):c.128C>T (p.Ser43Phe)
|
rs1757997664
|
|
NM_004415.4(DSP):c.1294A>G (p.Lys432Glu)
|
|
|
NM_004415.4(DSP):c.1303G>A (p.Val435Met)
|
|
|
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.1325C>T (p.Ser442Phe)
|
rs1321159751
|
|
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.1341G>T (p.Gln447His)
|
|
|
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.1352G>T (p.Arg451Leu)
|
rs786204294
|
|
NM_004415.4(DSP):c.1357C>A (p.Pro453Thr)
|
|
|
NM_004415.4(DSP):c.1358C>T (p.Pro453Leu)
|
|
|
NM_004415.4(DSP):c.1370G>A (p.Ser457Asn)
|
|
|
NM_004415.4(DSP):c.1372A>T (p.Asn458Tyr)
|
|
|
NM_004415.4(DSP):c.1380C>T (p.Pro460=)
|
rs1451086273
|
|
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.1405T>G (p.Tyr469Asp)
|
|
|
NM_004415.4(DSP):c.1411C>A (p.Gln471Lys)
|
|
|
NM_004415.4(DSP):c.1414G>A (p.Asp472Asn)
|
rs2113674467
|
|
NM_004415.4(DSP):c.1419G>A (p.Gln473=)
|
|
|
NM_004415.4(DSP):c.1420-3C>T
|
rs786204296
|
|
NM_004415.4(DSP):c.1426G>A (p.Val476Met)
|
rs367987327
|
|
NM_004415.4(DSP):c.1426G>C (p.Val476Leu)
|
|
|
NM_004415.4(DSP):c.1426G>T (p.Val476Leu)
|
|
|
NM_004415.4(DSP):c.1434G>C (p.Lys478Asn)
|
|
|
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.1444T>G (p.Cys482Gly)
|
|
|
NM_004415.4(DSP):c.1445G>A (p.Cys482Tyr)
|
rs1472091469
|
|
NM_004415.4(DSP):c.1460A>G (p.Asn487Ser)
|
|
|
NM_004415.4(DSP):c.1463A>G (p.Asn488Ser)
|
|
|
NM_004415.4(DSP):c.146C>T (p.Thr49Ile)
|
rs151153655
|
|
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>C (p.Val495Ala)
|
rs727504518
|
|
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.1489G>A (p.Gly497Ser)
|
|
|
NM_004415.4(DSP):c.148G>C (p.Asp50His)
|
|
|
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.1493C>G (p.Pro498Arg)
|
|
|
NM_004415.4(DSP):c.14G>C (p.Gly5Ala)
|
rs1757989474
|
|
NM_004415.4(DSP):c.1502T>A (p.Val501Asp)
|
|
|
NM_004415.4(DSP):c.1504G>A (p.Asp502Asn)
|
rs750547425
|
|
NM_004415.4(DSP):c.1509G>A (p.Met503Ile)
|
|
|
NM_004415.4(DSP):c.1511T>G (p.Leu504Arg)
|
|
|
NM_004415.4(DSP):c.1513G>A (p.Val505Ile)
|
|
|
NM_004415.4(DSP):c.1529T>C (p.Leu510Pro)
|
rs2113675644
|
|
NM_004415.4(DSP):c.1532T>G (p.Ile511Ser)
|
|
|
NM_004415.4(DSP):c.1544C>T (p.Pro515Leu)
|
rs730880079
|
|
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.1563C>A (p.Asp521Glu)
|
rs113378925
|
|
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.1597A>G (p.Ile533Val)
|
|
|
NM_004415.4(DSP):c.1603G>A (p.Ala535Thr)
|
rs777088675
|
|
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.1664T>C (p.Ile555Thr)
|
|
|
NM_004415.4(DSP):c.1670T>C (p.Ile557Thr)
|
rs1759012793
|
|
NM_004415.4(DSP):c.1672G>C (p.Glu558Gln)
|
|
|
NM_004415.4(DSP):c.1675A>G (p.Lys559Glu)
|
|
|
NM_004415.4(DSP):c.1679T>C (p.Ile560Thr)
|
|
|
NM_004415.4(DSP):c.1682G>C (p.Arg561Thr)
|
|
|
NM_004415.4(DSP):c.1695C>G (p.Ile565Met)
|
|
|
NM_004415.4(DSP):c.1699A>C (p.Lys567Gln)
|
|
|
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.1702-15C>A
|
|
|
NM_004415.4(DSP):c.1702-16_1702-15delinsCT
|
|
|
NM_004415.4(DSP):c.1705A>G (p.Lys569Glu)
|
|
|
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.1817G>A (p.Arg606Gln)
|
rs576661499
|
|
NM_004415.4(DSP):c.1840G>C (p.Asp614His)
|
|
|
NM_004415.4(DSP):c.1847A>G (p.Gln616Arg)
|
|
|
NM_004415.4(DSP):c.1848G>A (p.Gln616=)
|
rs1215425090
|
|
NM_004415.4(DSP):c.1852C>T (p.His618Tyr)
|
|
|
NM_004415.4(DSP):c.1855T>C (p.Tyr619His)
|
|
|
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.1928A>G (p.His643Arg)
|
rs1759064128
|
|
NM_004415.4(DSP):c.1942G>T (p.Asp648Tyr)
|
rs200409452
|
|
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.1952A>G (p.His651Arg)
|
rs1759065265
|
|
NM_004415.4(DSP):c.1954A>G (p.Asn652Asp)
|
|
|
NM_004415.4(DSP):c.1957A>G (p.Lys653Glu)
|
|
|
NM_004415.4(DSP):c.1963A>G (p.Ile655Val)
|
|
|
NM_004415.4(DSP):c.1964T>A (p.Ile655Asn)
|
|
|
NM_004415.4(DSP):c.1964T>C (p.Ile655Thr)
|
|
|
NM_004415.4(DSP):c.1965T>G (p.Ile655Met)
|
|
|
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.1A>G (p.Met1Val)
|
rs1131691557
|
|
NM_004415.4(DSP):c.2002A>G (p.Met668Val)
|
|
|
NM_004415.4(DSP):c.2002A>T (p.Met668Leu)
|
|
|
NM_004415.4(DSP):c.2006T>C (p.Leu669Pro)
|
|
|
NM_004415.4(DSP):c.2008A>G (p.Met670Val)
|
|
|
NM_004415.4(DSP):c.2012A>G (p.Glu671Gly)
|
rs758530970
|
|
NM_004415.4(DSP):c.2014C>A (p.Leu672Met)
|
|
|
NM_004415.4(DSP):c.201C>A (p.Asn67Lys)
|
|
|
NM_004415.4(DSP):c.2023A>T (p.Ile675Phe)
|
rs142619902
|
|
NM_004415.4(DSP):c.2033A>G (p.Gln678Arg)
|
|
|
NM_004415.4(DSP):c.2036T>C (p.Ile679Thr)
|
rs1561690811
|
|
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.2087A>G (p.Gln696Arg)
|
rs1759072711
|
|
NM_004415.4(DSP):c.20C>T (p.Ser7Phe)
|
|
|
NM_004415.4(DSP):c.2106C>T (p.Ile702=)
|
|
|
NM_004415.4(DSP):c.2107A>G (p.Thr703Ala)
|
|
|
NM_004415.4(DSP):c.2110G>A (p.Val704Met)
|
|
|
NM_004415.4(DSP):c.2119A>G (p.Asn707Asp)
|
rs756272327
|
|
NM_004415.4(DSP):c.2130+5G>A
|
|
|
NM_004415.4(DSP):c.2134G>T (p.Val712Leu)
|
rs397516922
|
|
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.2152G>A (p.Ala718Thr)
|
|
|
NM_004415.4(DSP):c.2153C>T (p.Ala718Val)
|
rs764290255
|
|
NM_004415.4(DSP):c.2156T>C (p.Ile719Thr)
|
|
|
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.2182G>C (p.Asp728His)
|
rs794728116
|
|
NM_004415.4(DSP):c.2188C>T (p.Leu730Phe)
|
rs2113683126
|
|
NM_004415.4(DSP):c.2191G>A (p.Ala731Thr)
|
|
|
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.2218T>C (p.Cys740Arg)
|
|
|
NM_004415.4(DSP):c.2229G>T (p.Gln743His)
|
|
|
NM_004415.4(DSP):c.2234A>C (p.Glu745Ala)
|
rs969462343
|
|
NM_004415.4(DSP):c.2239T>C (p.Phe747Leu)
|
|
|
NM_004415.4(DSP):c.2239T>G (p.Phe747Val)
|
|
|
NM_004415.4(DSP):c.2259G>A (p.Leu753=)
|
rs1759156637
|
|
NM_004415.4(DSP):c.2275G>T (p.Val759Phe)
|
|
|
NM_004415.4(DSP):c.2278A>T (p.Thr760Ser)
|
|
|
NM_004415.4(DSP):c.2279C>A (p.Thr760Lys)
|
|
|
NM_004415.4(DSP):c.227A>G (p.Gln76Arg)
|
rs1581790962
|
|
NM_004415.4(DSP):c.2282A>G (p.Asp761Gly)
|
|
|
NM_004415.4(DSP):c.2297+5A>G
|
|
|
NM_004415.4(DSP):c.2299T>G (p.Leu767Val)
|
rs1561692940
|
|
NM_004415.4(DSP):c.2301A>C (p.Leu767Phe)
|
rs1759176601
|
|
NM_004415.4(DSP):c.2307A>C (p.Thr769=)
|
|
|
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.233G>T (p.Cys78Phe)
|
|
|
NM_004415.4(DSP):c.2344G>T (p.Asp782Tyr)
|
rs2113684062
|
|
NM_004415.4(DSP):c.2347A>G (p.Met783Val)
|
|
|
NM_004415.4(DSP):c.2356G>A (p.Val786Ile)
|
|
|
NM_004415.4(DSP):c.2359T>A (p.Tyr787Asn)
|
|
|
NM_004415.4(DSP):c.2360A>C (p.Tyr787Ser)
|
rs778350289
|
|
NM_004415.4(DSP):c.2368A>G (p.Arg790Gly)
|
|
|
NM_004415.4(DSP):c.2386A>G (p.Thr796Ala)
|
rs1554107526
|
|
NM_004415.4(DSP):c.2389G>C (p.Val797Leu)
|
|
|
NM_004415.4(DSP):c.238G>A (p.Asp80Asn)
|
rs1453492594
|
|
NM_004415.4(DSP):c.2393G>T (p.Cys798Phe)
|
|
|
NM_004415.4(DSP):c.23A>T (p.His8Leu)
|
|
|
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.243C>T (p.Cys81=)
|
rs947998304
|
|
NM_004415.4(DSP):c.2441T>C (p.Ile814Thr)
|
rs1393048121
|
|
NM_004415.4(DSP):c.2461A>C (p.Lys821Gln)
|
|
|
NM_004415.4(DSP):c.2462A>G (p.Lys821Arg)
|
|
|
NM_004415.4(DSP):c.2466G>C (p.Lys822Asn)
|
|
|
NM_004415.4(DSP):c.248T>C (p.Met83Thr)
|
rs2113653951
|
|
NM_004415.4(DSP):c.24C>A (p.His8Gln)
|
|
|
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.2522A>G (p.Gln841Arg)
|
|
|
NM_004415.4(DSP):c.253G>A (p.Ala85Thr)
|
|
|
NM_004415.4(DSP):c.2543T>C (p.Leu848Pro)
|
|
|
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.2575A>G (p.Lys859Glu)
|
rs1759209975
|
|
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.2597G>T (p.Arg866Leu)
|
|
|
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.2615A>G (p.Lys872Arg)
|
|
|
NM_004415.4(DSP):c.2623G>A (p.Asp875Asn)
|
rs200338012
|
|
NM_004415.4(DSP):c.2626T>A (p.Phe876Ile)
|
|
|
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.2630+6C>T
|
|
|
NM_004415.4(DSP):c.2631-13dup
|
rs1455610668
|
|
NM_004415.4(DSP):c.2631-14C>G
|
|
|
NM_004415.4(DSP):c.2631-3C>T
|
rs1041054817
|
|
NM_004415.4(DSP):c.2631-6C>G
|
rs1759237205
|
|
NM_004415.4(DSP):c.2631-7C>G
|
|
|
NM_004415.4(DSP):c.2637G>C (p.Trp879Cys)
|
|
|
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.270G>C (p.Gln90His)
|
|
|
NM_004415.4(DSP):c.2719C>A (p.Arg907Ser)
|
rs749051278
|
|
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.2765C>T (p.Thr922Ile)
|
rs755099716
|
|
NM_004415.4(DSP):c.2772G>T (p.Met924Ile)
|
|
|
NM_004415.4(DSP):c.2774G>T (p.Arg925Leu)
|
|
|
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.2793+6A>G
|
|
|
NM_004415.4(DSP):c.2793+6_2793+7insCAAAAAGA
|
|
|
NM_004415.4(DSP):c.2794-17T>G
|
|
|
NM_004415.4(DSP):c.279G>C (p.Leu93Phe)
|
rs1447901875
|
|
NM_004415.4(DSP):c.2807A>G (p.Glu936Gly)
|
|
|
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.2846A>C (p.Lys949Thr)
|
|
|
NM_004415.4(DSP):c.2848A>T (p.Ile950Phe)
|
|
|
NM_004415.4(DSP):c.284A>T (p.Tyr95Phe)
|
|
|
NM_004415.4(DSP):c.2857C>G (p.Leu953Val)
|
|
|
NM_004415.4(DSP):c.2861G>T (p.Cys954Phe)
|
|
|
NM_004415.4(DSP):c.2863G>A (p.Ala955Thr)
|
rs190421916
|
|
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.2891A>T (p.Gln964Leu)
|
|
|
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.2915T>A (p.Leu972Gln)
|
|
|
NM_004415.4(DSP):c.2917G>C (p.Glu973Gln)
|
|
|
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.293G>C (p.Gly98Ala)
|
|
|
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.2952G>A (p.Met984Ile)
|
|
|
NM_004415.4(DSP):c.2963C>T (p.Pro988Leu)
|
rs2113689067
|
|
NM_004415.4(DSP):c.297A>G (p.Ile99Met)
|
|
|
NM_004415.4(DSP):c.2986-3A>C
|
|
|
NM_004415.4(DSP):c.2986G>T (p.Ala996Ser)
|
rs1254054471
|
|
NM_004415.4(DSP):c.298C>A (p.Gln100Lys)
|
|
|
NM_004415.4(DSP):c.2990C>T (p.Ala997Val)
|
|
|
NM_004415.4(DSP):c.2994T>G (p.Asp998Glu)
|
rs755610951
|
|
NM_004415.4(DSP):c.2998C>G (p.His1000Asp)
|
|
|
NM_004415.4(DSP):c.2998C>T (p.His1000Tyr)
|
|
|
NM_004415.4(DSP):c.2998_3012del (p.His1000_Ile1004del)
|
|
|
NM_004415.4(DSP):c.299A>G (p.Gln100Arg)
|
|
|
NM_004415.4(DSP):c.299A>T (p.Gln100Leu)
|
|
|
NM_004415.4(DSP):c.3005G>A (p.Arg1002Gln)
|
rs371234425
|
|
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.3075A>C (p.Glu1025Asp)
|
|
|
NM_004415.4(DSP):c.307C>G (p.Arg103Gly)
|
|
|
NM_004415.4(DSP):c.307C>T (p.Arg103Trp)
|
rs375028675
|
|
NM_004415.4(DSP):c.3080T>C (p.Leu1027Pro)
|
|
|
NM_004415.4(DSP):c.3101T>A (p.Ile1034Asn)
|
|
|
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.3103G>C (p.Glu1035Gln)
|
|
|
NM_004415.4(DSP):c.3120G>C (p.Glu1040Asp)
|
|
|
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.3162_3164del (p.Lys1054del)
|
|
|
NM_004415.4(DSP):c.3163A>G (p.Asn1055Asp)
|
|
|
NM_004415.4(DSP):c.3166A>C (p.Lys1056Gln)
|
|
|
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.3221C>A (p.Ala1074Glu)
|
rs745849763
|
|
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.323A>T (p.Asp108Val)
|
|
|
NM_004415.4(DSP):c.3241G>A (p.Glu1081Lys)
|
|
|
NM_004415.4(DSP):c.3242A>T (p.Glu1081Val)
|
|
|
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.329G>C (p.Cys110Ser)
|
|
|
NM_004415.4(DSP):c.3304G>C (p.Gly1102Arg)
|
|
|
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>A (p.Leu1107Ile)
|
|
|
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.3332T>G (p.Ile1111Ser)
|
|
|
NM_004415.4(DSP):c.3340C>A (p.Leu1114Met)
|
|
|
NM_004415.4(DSP):c.3344C>T (p.Thr1115Ile)
|
rs1393151720
|
|
NM_004415.4(DSP):c.3346T>C (p.Tyr1116His)
|
rs1581815394
|
|
NM_004415.4(DSP):c.3346_3354del (p.Tyr1116_Ile1118del)
|
|
|
NM_004415.4(DSP):c.3347A>T (p.Tyr1116Phe)
|
|
|
NM_004415.4(DSP):c.3351G>T (p.Glu1117Asp)
|
|
|
NM_004415.4(DSP):c.3352A>G (p.Ile1118Val)
|
|
|
NM_004415.4(DSP):c.3368GAA[2] (p.Arg1125del)
|
rs1405952840
|
|
NM_004415.4(DSP):c.3371G>A (p.Arg1124Lys)
|
|
|
NM_004415.4(DSP):c.3380C>T (p.Ser1127Phe)
|
|
|
NM_004415.4(DSP):c.3389A>G (p.Asp1130Gly)
|
rs886061746
|
|
NM_004415.4(DSP):c.3393A>G (p.Arg1131=)
|
|
|
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.3416A>G (p.Tyr1139Cys)
|
|
|
NM_004415.4(DSP):c.3423A>C (p.Gln1141His)
|
rs759288257
|
|
NM_004415.4(DSP):c.3424C>T (p.Leu1142=)
|
rs779251147
|
|
NM_004415.4(DSP):c.3443G>A (p.Cys1148Tyr)
|
|
|
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.3494A>T (p.Lys1165Met)
|
|
|
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.3501G>A (p.Lys1167=)
|
|
|
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.3512T>C (p.Ile1171Thr)
|
rs762449180
|
|
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.3529C>A (p.Leu1177Ile)
|
|
|
NM_004415.4(DSP):c.3538G>A (p.Glu1180Lys)
|
|
|
NM_004415.4(DSP):c.3541G>A (p.Glu1181Lys)
|
|
|
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.3563A>G (p.Tyr1188Cys)
|
|
|
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.3592C>T (p.His1198Tyr)
|
|
|
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.3609G>A (p.Met1203Ile)
|
|
|
NM_004415.4(DSP):c.3609_3610delinsAG (p.Met1203_Ser1204delinsIleGly)
|
rs1759361326
|
|
NM_004415.4(DSP):c.3610A>G (p.Ser1204Gly)
|
|
|
NM_004415.4(DSP):c.3616T>G (p.Leu1206Val)
|
rs151115778
|
|
NM_004415.4(DSP):c.361C>A (p.Leu121Ile)
|
|
|
NM_004415.4(DSP):c.3625A>C (p.Lys1209Gln)
|
rs1283110287
|
|
NM_004415.4(DSP):c.3627G>C (p.Lys1209Asn)
|
|
|
NM_004415.4(DSP):c.3629A>G (p.Tyr1210Cys)
|
|
|
NM_004415.4(DSP):c.3640A>G (p.Ile1214Val)
|
|
|
NM_004415.4(DSP):c.3643A>G (p.Asn1215Asp)
|
|
|
NM_004415.4(DSP):c.3656C>A (p.Thr1219Asn)
|
|
|
NM_004415.4(DSP):c.3672A>G (p.Ile1224Met)
|
|
|
NM_004415.4(DSP):c.3673T>C (p.Ser1225Pro)
|
|
|
NM_004415.4(DSP):c.3680A>C (p.Gln1227Pro)
|
rs1458557680
|
|
NM_004415.4(DSP):c.3684A>T (p.Lys1228Asn)
|
|
|
NM_004415.4(DSP):c.3685G>A (p.Glu1229Lys)
|
|
|
NM_004415.4(DSP):c.3687_3689dup (p.Glu1229dup)
|
rs1561697838
|
|
NM_004415.4(DSP):c.3691G>A (p.Asp1231Asn)
|
|
|
NM_004415.4(DSP):c.3692A>C (p.Asp1231Ala)
|
rs1581816117
|
|
NM_004415.4(DSP):c.36C>T (p.Asn12=)
|
rs886061744
|
|
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.3716T>C (p.Leu1239Pro)
|
|
|
NM_004415.4(DSP):c.3720T>A (p.Asp1240Glu)
|
rs1759365530
|
|
NM_004415.4(DSP):c.372G>C (p.Leu124Phe)
|
|
|
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.3746T>C (p.Leu1249Pro)
|
|
|
NM_004415.4(DSP):c.374T>A (p.Ile125Asn)
|
|
|
NM_004415.4(DSP):c.3757A>T (p.Ile1253Phe)
|
|
|
NM_004415.4(DSP):c.3760G>T (p.Val1254Phe)
|
|
|
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.3777C>T (p.Ser1259=)
|
|
|
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.379G>A (p.Glu127Lys)
|
|
|
NM_004415.4(DSP):c.37A>G (p.Thr13Ala)
|
|
|
NM_004415.4(DSP):c.37_38del (p.Thr13fs)
|
|
|
NM_004415.4(DSP):c.3805C>G (p.Arg1269Gly)
|
|
|
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.3826C>G (p.Gln1276Glu)
|
|
|
NM_004415.4(DSP):c.3830A>G (p.Gln1277Arg)
|
|
|
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.3898C>G (p.Gln1300Glu)
|
|
|
NM_004415.4(DSP):c.389A>G (p.Gln130Arg)
|
|
|
NM_004415.4(DSP):c.3902A>T (p.Gln1301Leu)
|
rs2113692916
|
|
NM_004415.4(DSP):c.3913G>A (p.Asp1305Asn)
|
|
|
NM_004415.4(DSP):c.3919_3920delinsTT (p.Ala1307Phe)
|
|
|
NM_004415.4(DSP):c.3923G>C (p.Arg1308Pro)
|
|
|
NM_004415.4(DSP):c.3923G>T (p.Arg1308Leu)
|
rs184154918
|
|
NM_004415.4(DSP):c.3929A>C (p.Lys1310Thr)
|
|
|
NM_004415.4(DSP):c.3932A>C (p.Gln1311Pro)
|
|
|
NM_004415.4(DSP):c.3934T>C (p.Ser1312Pro)
|
|
|
NM_004415.4(DSP):c.3941A>G (p.Glu1314Gly)
|
|
|
NM_004415.4(DSP):c.3947C>G (p.Ala1316Gly)
|
|
|
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>G (p.Thr1319Ser)
|
rs138599871
|
|
NM_004415.4(DSP):c.3956C>T (p.Thr1319Ile)
|
rs138599871
|
|
NM_004415.4(DSP):c.3958A>G (p.Ile1320Val)
|
|
|
NM_004415.4(DSP):c.3962A>G (p.Gln1321Arg)
|
|
|
NM_004415.4(DSP):c.3964G>A (p.Asp1322Asn)
|
rs1759376700
|
|
NM_004415.4(DSP):c.3970A>T (p.Asn1324Tyr)
|
|
|
NM_004415.4(DSP):c.3971A>G (p.Asn1324Ser)
|
|
|
NM_004415.4(DSP):c.397C>G (p.Gln133Glu)
|
|
|
NM_004415.4(DSP):c.3982G>A (p.Glu1328Lys)
|
rs746208168
|
|
NM_004415.4(DSP):c.3982G>C (p.Glu1328Gln)
|
rs746208168
|
|
NM_004415.4(DSP):c.3992A>G (p.Lys1331Arg)
|
|
|
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.4003C>G (p.Gln1335Glu)
|
|
|
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.4018C>G (p.Arg1340Gly)
|
rs768628788
|
|
NM_004415.4(DSP):c.4018C>T (p.Arg1340Cys)
|
rs768628788
|
|
NM_004415.4(DSP):c.4022G>T (p.Arg1341Leu)
|
|
|
NM_004415.4(DSP):c.4028A>G (p.Glu1343Gly)
|
|
|
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.4068T>G (p.Asp1356Glu)
|
|
|
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.408T>A (p.Asp136Glu)
|
|
|
NM_004415.4(DSP):c.4090A>C (p.Asn1364His)
|
|
|
NM_004415.4(DSP):c.4094A>T (p.Gln1365Leu)
|
|
|
NM_004415.4(DSP):c.4099G>A (p.Glu1367Lys)
|
rs1759383897
|
|
NM_004415.4(DSP):c.40C>A (p.Leu14Met)
|
|
|
NM_004415.4(DSP):c.40C>G (p.Leu14Val)
|
|
|
NM_004415.4(DSP):c.4102A>G (p.Thr1368Ala)
|
|
|
NM_004415.4(DSP):c.4107G>C (p.Glu1369Asp)
|
|
|
NM_004415.4(DSP):c.4107G>T (p.Glu1369Asp)
|
|
|
NM_004415.4(DSP):c.4107_4108delinsTG (p.Glu1369_Ile1370delinsAspVal)
|
rs1759384287
|
|
NM_004415.4(DSP):c.4108A>G (p.Ile1370Val)
|
|
|
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.4153G>A (p.Glu1385Lys)
|
|
|
NM_004415.4(DSP):c.4156G>A (p.Glu1386Lys)
|
rs397516935
|
|
NM_004415.4(DSP):c.4163C>A (p.Thr1388Asn)
|
|
|
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.4184T>C (p.Ile1395Thr)
|
|
|
NM_004415.4(DSP):c.418A>G (p.Lys140Glu)
|
|
|
NM_004415.4(DSP):c.4190A>G (p.Asn1397Ser)
|
|
|
NM_004415.4(DSP):c.4195A>G (p.Thr1399Ala)
|
rs1561698547
|
|
NM_004415.4(DSP):c.4196C>T (p.Thr1399Ile)
|
|
|
NM_004415.4(DSP):c.4198C>G (p.Arg1400Gly)
|
|
|
NM_004415.4(DSP):c.4202A>T (p.Glu1401Val)
|
rs1759389046
|
|
NM_004415.4(DSP):c.4204A>G (p.Asn1402Asp)
|
|
|
NM_004415.4(DSP):c.4211G>A (p.Ser1404Asn)
|
rs1759389281
|
|
NM_004415.4(DSP):c.4216T>C (p.Ser1406Pro)
|
|
|
NM_004415.4(DSP):c.422+3A>G
|
rs1758564707
|
|
NM_004415.4(DSP):c.4225A>G (p.Ile1409Val)
|
|
|
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.423-9del
|
|
|
NM_004415.4(DSP):c.4233G>T (p.Arg1411Ser)
|
rs771721410
|
|
NM_004415.4(DSP):c.4237A>G (p.Lys1413Glu)
|
|
|
NM_004415.4(DSP):c.423G>T (p.Arg141Ser)
|
|
|
NM_004415.4(DSP):c.4252C>G (p.Gln1418Glu)
|
|
|
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.4283A>G (p.Glu1428Gly)
|
|
|
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.4295A>C (p.Gln1432Pro)
|
rs2113693777
|
|
NM_004415.4(DSP):c.4304C>T (p.Ala1435Val)
|
rs1164622831
|
|
NM_004415.4(DSP):c.4332A>C (p.Lys1444Asn)
|
rs1374798133
|
|
NM_004415.4(DSP):c.4337A>G (p.Gln1446Arg)
|
|
|
NM_004415.4(DSP):c.4348G>A (p.Glu1450Lys)
|
|
|
NM_004415.4(DSP):c.4351C>G (p.Leu1451Val)
|
|
|
NM_004415.4(DSP):c.4352T>C (p.Leu1451Pro)
|
rs1554108296
|
|
NM_004415.4(DSP):c.4355G>A (p.Arg1452Lys)
|
|
|
NM_004415.4(DSP):c.4355G>T (p.Arg1452Ile)
|
|
|
NM_004415.4(DSP):c.4360G>A (p.Val1454Ile)
|
|
|
NM_004415.4(DSP):c.4363A>C (p.Thr1455Pro)
|
|
|
NM_004415.4(DSP):c.4369A>T (p.Met1457Leu)
|
|
|
NM_004415.4(DSP):c.4371G>C (p.Met1457Ile)
|
rs1169630255
|
|
NM_004415.4(DSP):c.4373G>T (p.Arg1458Leu)
|
rs370063434
|
|
NM_004415.4(DSP):c.4375A>G (p.Thr1459Ala)
|
|
|
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.4408G>A (p.Asp1470Asn)
|
|
|
NM_004415.4(DSP):c.4409A>G (p.Asp1470Gly)
|
|
|
NM_004415.4(DSP):c.4414G>A (p.Ala1472Thr)
|
|
|
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.4424C>T (p.Thr1475Ile)
|
|
|
NM_004415.4(DSP):c.4426A>G (p.Ile1476Val)
|
|
|
NM_004415.4(DSP):c.4445A>C (p.Glu1482Ala)
|
|
|
NM_004415.4(DSP):c.4447A>G (p.Ile1483Val)
|
|
|
NM_004415.4(DSP):c.4449A>G (p.Ile1483Met)
|
rs1308817559
|
|
NM_004415.4(DSP):c.4451A>G (p.Glu1484Gly)
|
|
|
NM_004415.4(DSP):c.445A>T (p.Met149Leu)
|
|
|
NM_004415.4(DSP):c.4468A>G (p.Ile1490Val)
|
|
|
NM_004415.4(DSP):c.4471G>C (p.Asp1491His)
|
|
|
NM_004415.4(DSP):c.4472A>G (p.Asp1491Gly)
|
rs397516938
|
|
NM_004415.4(DSP):c.4487A>T (p.Asp1496Val)
|
|
|
NM_004415.4(DSP):c.4490G>C (p.Arg1497Pro)
|
|
|
NM_004415.4(DSP):c.4499T>C (p.Leu1500Pro)
|
|
|
NM_004415.4(DSP):c.449G>T (p.Arg150Leu)
|
|
|
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.4534T>G (p.Tyr1512Asp)
|
|
|
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.4558A>T (p.Ser1520Cys)
|
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.4600G>C (p.Glu1534Gln)
|
|
|
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.4632G>T (p.Arg1544Ser)
|
|
|
NM_004415.4(DSP):c.4636T>C (p.Ser1546Pro)
|
rs1280704171
|
|
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.4673G>A (p.Arg1558Gln)
|
|
|
NM_004415.4(DSP):c.4677C>G (p.Phe1559Leu)
|
|
|
NM_004415.4(DSP):c.4678C>G (p.Gln1560Glu)
|
|
|
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.468C>T (p.Ile156=)
|
|
|
NM_004415.4(DSP):c.4696CTGCAG[1] (p.1566LQ[1])
|
rs1379223945
|
|
NM_004415.4(DSP):c.469A>T (p.Ser157Cys)
|
|
|
NM_004415.4(DSP):c.4712A>C (p.Gln1571Pro)
|
|
|
NM_004415.4(DSP):c.4717G>A (p.Val1573Met)
|
rs370171270
|
|
NM_004415.4(DSP):c.4723G>A (p.Glu1575Lys)
|
rs727503002
|
|
NM_004415.4(DSP):c.472G>A (p.Val158Ile)
|
|
|
NM_004415.4(DSP):c.4745G>T (p.Arg1582Met)
|
|
|
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.4783G>C (p.Glu1595Gln)
|
|
|
NM_004415.4(DSP):c.4786G>A (p.Glu1596Lys)
|
|
|
NM_004415.4(DSP):c.4787A>G (p.Glu1596Gly)
|
rs2113694907
|
|
NM_004415.4(DSP):c.4792C>A (p.Leu1598Met)
|
|
|
NM_004415.4(DSP):c.47G>A (p.Arg16His)
|
rs752387234
|
|
NM_004415.4(DSP):c.47G>C (p.Arg16Pro)
|
rs752387234
|
|
NM_004415.4(DSP):c.4801A>G (p.Met1601Val)
|
|
|
NM_004415.4(DSP):c.4807A>T (p.Arg1603Trp)
|
|
|
NM_004415.4(DSP):c.4820A>G (p.Glu1607Gly)
|
rs1364445729
|
|
NM_004415.4(DSP):c.4826C>A (p.Ala1609Asp)
|
|
|
NM_004415.4(DSP):c.4826C>T (p.Ala1609Val)
|
|
|
NM_004415.4(DSP):c.4835T>C (p.Ile1612Thr)
|
rs1581818435
|
|
NM_004415.4(DSP):c.4837A>T (p.Thr1613Ser)
|
|
|
NM_004415.4(DSP):c.4840A>G (p.Asn1614Asp)
|
|
|
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.4856T>C (p.Leu1619Pro)
|
|
|
NM_004415.4(DSP):c.4857G>C (p.Leu1619=)
|
rs373385083
|
|
NM_004415.4(DSP):c.485G>A (p.Arg162His)
|
rs397516944
|
|
NM_004415.4(DSP):c.4864G>T (p.Ala1622Ser)
|
|
|
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.4912G>A (p.Asp1638Asn)
|
rs2113695205
|
|
NM_004415.4(DSP):c.4916T>C (p.Val1639Ala)
|
|
|
NM_004415.4(DSP):c.4946G>A (p.Arg1649Lys)
|
rs2113695278
|
|
NM_004415.4(DSP):c.4946G>T (p.Arg1649Met)
|
|
|
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.4958A>G (p.Glu1653Gly)
|
|
|
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.4984G>A (p.Glu1662Lys)
|
|
|
NM_004415.4(DSP):c.4986G>C (p.Glu1662Asp)
|
|
|
NM_004415.4(DSP):c.4994G>C (p.Arg1665Thr)
|
rs1290867734
|
|
NM_004415.4(DSP):c.4999C>A (p.Gln1667Lys)
|
|
|
NM_004415.4(DSP):c.5006T>C (p.Leu1669Pro)
|
rs776712810
|
|
NM_004415.4(DSP):c.502G>A (p.Gly168Ser)
|
rs1308747530
|
|
NM_004415.4(DSP):c.5037C>G (p.His1679Gln)
|
|
|
NM_004415.4(DSP):c.505G>A (p.Gly169Ser)
|
rs1184706017
|
|
NM_004415.4(DSP):c.505G>T (p.Gly169Cys)
|
|
|
NM_004415.4(DSP):c.5061G>C (p.Lys1687Asn)
|
rs754404501
|
|
NM_004415.4(DSP):c.5064G>A (p.Ala1688=)
|
rs886061747
|
|
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.5095A>C (p.Ser1699Arg)
|
|
|
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.5120A>G (p.Gln1707Arg)
|
|
|
NM_004415.4(DSP):c.5123C>G (p.Ser1708Cys)
|
rs372452104
|
|
NM_004415.4(DSP):c.5125C>T (p.Leu1709Phe)
|
rs1759432908
|
|
NM_004415.4(DSP):c.512G>A (p.Gly171Asp)
|
|
|
NM_004415.4(DSP):c.512G>T (p.Gly171Val)
|
|
|
NM_004415.4(DSP):c.512_513delinsAA (p.Gly171Glu)
|
rs1758605814
|
|
NM_004415.4(DSP):c.5135A>T (p.Asn1712Ile)
|
rs1759433132
|
|
NM_004415.4(DSP):c.5156T>C (p.Met1719Thr)
|
|
|
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.5191T>A (p.Tyr1731Asn)
|
|
|
NM_004415.4(DSP):c.5212C>G (p.Arg1738Gly)
|
rs794728124
|
|
NM_004415.4(DSP):c.5225A>G (p.Asp1742Gly)
|
|
|
NM_004415.4(DSP):c.5227A>G (p.Ser1743Gly)
|
rs1759437499
|
|
NM_004415.4(DSP):c.5228G>A (p.Ser1743Asn)
|
|
|
NM_004415.4(DSP):c.5234A>C (p.Lys1745Thr)
|
|
|
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.5291T>A (p.Leu1764Gln)
|
rs767885673
|
|
NM_004415.4(DSP):c.5291T>C (p.Leu1764Pro)
|
rs767885673
|
|
NM_004415.4(DSP):c.52A>C (p.Ile18Leu)
|
|
|
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.5313T>G (p.Asn1771Lys)
|
|
|
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.5339T>G (p.Leu1780Trp)
|
|
|
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.5379+4T>C
|
|
|
NM_004415.4(DSP):c.5380-12C>A
|
|
|
NM_004415.4(DSP):c.5380-1G>C
|
rs1759474600
|
|
NM_004415.4(DSP):c.5380-20_5380-13del
|
|
|
NM_004415.4(DSP):c.5380-4C>G
|
rs756405593
|
|
NM_004415.4(DSP):c.5384C>A (p.Ser1795Tyr)
|
|
|
NM_004415.4(DSP):c.5391G>A (p.Arg1797=)
|
rs778745098
|
|
NM_004415.4(DSP):c.5399A>G (p.Glu1800Gly)
|
|
|
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.5475C>A (p.Asp1825Glu)
|
|
|
NM_004415.4(DSP):c.5479G>A (p.Ala1827Thr)
|
rs747643627
|
|
NM_004415.4(DSP):c.5483G>C (p.Arg1828Thr)
|
|
|
NM_004415.4(DSP):c.5489A>T (p.Gln1830Leu)
|
|
|
NM_004415.4(DSP):c.54C>G (p.Ile18Met)
|
|
|
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.5528T>C (p.Leu1843Pro)
|
|
|
NM_004415.4(DSP):c.5538A>C (p.Glu1846Asp)
|
|
|
NM_004415.4(DSP):c.5542A>C (p.Arg1848=)
|
|
|
NM_004415.4(DSP):c.5542A>G (p.Arg1848Gly)
|
rs886038805
|
|
NM_004415.4(DSP):c.5544G>A (p.Arg1848=)
|
rs727503004
|
|
NM_004415.4(DSP):c.5548A>C (p.Lys1850Gln)
|
|
|
NM_004415.4(DSP):c.5554C>A (p.Arg1852Ser)
|
|
|
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>G (p.Asn1862Asp)
|
|
|
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.55C>G (p.Arg19Gly)
|
|
|
NM_004415.4(DSP):c.55C>T (p.Arg19Cys)
|
rs777340009
|
|
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.5629G>A (p.Ala1877Thr)
|
|
|
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.5638A>C (p.Lys1880Gln)
|
|
|
NM_004415.4(DSP):c.5642T>C (p.Ile1881Thr)
|
rs1192963820
|
|
NM_004415.4(DSP):c.5659A>G (p.Lys1887Glu)
|
|
|
NM_004415.4(DSP):c.5663G>A (p.Ser1888Asn)
|
|
|
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.5675A>C (p.Lys1892Thr)
|
|
|
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.5687G>C (p.Arg1896Thr)
|
|
|
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.5692G>A (p.Glu1898Lys)
|
rs1759492368
|
|
NM_004415.4(DSP):c.5692G>C (p.Glu1898Gln)
|
|
|
NM_004415.4(DSP):c.5697C>G (p.Ile1899Met)
|
|
|
NM_004415.4(DSP):c.56G>A (p.Arg19His)
|
rs1757992558
|
|
NM_004415.4(DSP):c.5711C>T (p.Ala1904Val)
|
rs1473162721
|
|
NM_004415.4(DSP):c.5721G>C (p.Lys1907Asn)
|
|
|
NM_004415.4(DSP):c.572G>A (p.Cys191Tyr)
|
|
|
NM_004415.4(DSP):c.5733G>A (p.Glu1911=)
|
|
|
NM_004415.4(DSP):c.5736G>T (p.Arg1912Ser)
|
rs371873840
|
|
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.5785G>A (p.Glu1929Lys)
|
|
|
NM_004415.4(DSP):c.5788_5793del (p.Thr1930_Glu1931del)
|
|
|
NM_004415.4(DSP):c.5789C>G (p.Thr1930Arg)
|
rs794728126
|
|
NM_004415.4(DSP):c.5801G>A (p.Arg1934Gln)
|
|
|
NM_004415.4(DSP):c.5801G>T (p.Arg1934Leu)
|
|
|
NM_004415.4(DSP):c.5808G>C (p.Gln1936His)
|
|
|
NM_004415.4(DSP):c.5812G>C (p.Glu1938Gln)
|
|
|
NM_004415.4(DSP):c.5819A>T (p.Asp1940Val)
|
rs1430290356
|
|
NM_004415.4(DSP):c.5821A>G (p.Lys1941Glu)
|
rs794728127
|
|
NM_004415.4(DSP):c.5828G>T (p.Arg1943Ile)
|
|
|
NM_004415.4(DSP):c.5837C>T (p.Pro1946Leu)
|
|
|
NM_004415.4(DSP):c.583A>G (p.Met195Val)
|
|
|
NM_004415.4(DSP):c.5840A>G (p.Tyr1947Cys)
|
|
|
NM_004415.4(DSP):c.5869T>C (p.Cys1957Arg)
|
rs2113698961
|
|
NM_004415.4(DSP):c.5874G>C (p.Glu1958Asp)
|
|
|
NM_004415.4(DSP):c.587G>A (p.Arg196Lys)
|
|
|
NM_004415.4(DSP):c.5882T>C (p.Val1961Ala)
|
|
|
NM_004415.4(DSP):c.5884G>A (p.Asp1962Asn)
|
|
|
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.5961C>G (p.Asp1987Glu)
|
|
|
NM_004415.4(DSP):c.5969C>T (p.Thr1990Ile)
|
|
|
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.5972T>C (p.Leu1991Ser)
|
|
|
NM_004415.4(DSP):c.5974G>A (p.Asp1992Asn)
|
|
|
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.6013G>C (p.Ala2005Pro)
|
|
|
NM_004415.4(DSP):c.6037C>T (p.Arg2013Trp)
|
|
|
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.6055G>T (p.Ala2019Ser)
|
rs771974957
|
|
NM_004415.4(DSP):c.6058G>A (p.Gly2020Arg)
|
|
|
NM_004415.4(DSP):c.6062C>A (p.Ala2021Glu)
|
|
|
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.6079G>A (p.Glu2027Lys)
|
|
|
NM_004415.4(DSP):c.6085T>A (p.Tyr2029Asn)
|
|
|
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.6149A>C (p.Glu2050Ala)
|
|
|
NM_004415.4(DSP):c.6151G>A (p.Ala2051Thr)
|
|
|
NM_004415.4(DSP):c.6160G>A (p.Ala2054Thr)
|
rs1759517531
|
|
NM_004415.4(DSP):c.6166G>C (p.Gly2056Arg)
|
rs780274878
|
|
NM_004415.4(DSP):c.616G>A (p.Ala206Thr)
|
rs794728109
|
|
NM_004415.4(DSP):c.6176T>C (p.Ile2059Thr)
|
|
|
NM_004415.4(DSP):c.6179A>T (p.Asp2060Val)
|
|
|
NM_004415.4(DSP):c.6181C>T (p.Pro2061Ser)
|
rs1561702055
|
|
NM_004415.4(DSP):c.6185A>G (p.His2062Arg)
|
rs730880086
|
|
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.6257T>C (p.Ile2086Thr)
|
|
|
NM_004415.4(DSP):c.6271A>G (p.Lys2091Glu)
|
|
|
NM_004415.4(DSP):c.6275C>T (p.Ala2092Val)
|
rs876657796
|
|
NM_004415.4(DSP):c.6278T>C (p.Ile2093Thr)
|
|
|
NM_004415.4(DSP):c.6281C>G (p.Thr2094Ser)
|
|
|
NM_004415.4(DSP):c.6295_6296delinsAT (p.Pro2099Ile)
|
rs587782942
|
|
NM_004415.4(DSP):c.6299T>C (p.Phe2100Ser)
|
|
|
NM_004415.4(DSP):c.6328G>T (p.Ala2110Ser)
|
|
|
NM_004415.4(DSP):c.6333C>G (p.Ile2111Met)
|
|
|
NM_004415.4(DSP):c.6335A>G (p.Lys2112Arg)
|
|
|
NM_004415.4(DSP):c.6351T>A (p.Asp2117Glu)
|
|
|
NM_004415.4(DSP):c.6353G>C (p.Arg2118Thr)
|
|
|
NM_004415.4(DSP):c.6358A>G (p.Thr2120Ala)
|
rs1759528776
|
|
NM_004415.4(DSP):c.6361G>A (p.Gly2121Arg)
|
rs368227724
|
|
NM_004415.4(DSP):c.6364A>G (p.Met2122Val)
|
|
|
NM_004415.4(DSP):c.6367C>A (p.Arg2123Ser)
|
|
|
NM_004415.4(DSP):c.63G>T (p.Glu21Asp)
|
|
|
NM_004415.4(DSP):c.6409C>A (p.Pro2137Thr)
|
rs2113700303
|
|
NM_004415.4(DSP):c.6410C>T (p.Pro2137Leu)
|
|
|
NM_004415.4(DSP):c.6422T>G (p.Val2141Gly)
|
rs1759532262
|
|
NM_004415.4(DSP):c.6442G>C (p.Ala2148Pro)
|
|
|
NM_004415.4(DSP):c.6454G>A (p.Gly2152Arg)
|
|
|
NM_004415.4(DSP):c.6454G>C (p.Gly2152Arg)
|
|
|
NM_004415.4(DSP):c.6455G>A (p.Gly2152Glu)
|
|
|
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.6479G>C (p.Arg2160Pro)
|
rs146642551
|
|
NM_004415.4(DSP):c.6479G>T (p.Arg2160Leu)
|
|
|
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.6513C>T (p.Asn2171=)
|
|
|
NM_004415.4(DSP):c.6517G>A (p.Val2173Met)
|
|
|
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.652A>G (p.Ile218Val)
|
rs987363401
|
|
NM_004415.4(DSP):c.6530C>A (p.Thr2177Asn)
|
|
|
NM_004415.4(DSP):c.6535AAG[1] (p.Lys2180del)
|
rs761044651
|
|
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.6554A>C (p.Gln2185Pro)
|
|
|
NM_004415.4(DSP):c.6565C>G (p.Arg2189Gly)
|
|
|
NM_004415.4(DSP):c.6569G>T (p.Cys2190Phe)
|
rs1276738564
|
|
NM_004415.4(DSP):c.6572G>A (p.Arg2191Lys)
|
rs527888978
|
|
NM_004415.4(DSP):c.6577G>A (p.Glu2193Lys)
|
rs397516952
|
|
NM_004415.4(DSP):c.6583C>T (p.His2195Tyr)
|
|
|
NM_004415.4(DSP):c.6586A>G (p.Thr2196Ala)
|
rs2113700741
|
|
NM_004415.4(DSP):c.6589G>T (p.Gly2197Cys)
|
|
|
NM_004415.4(DSP):c.6595C>G (p.Leu2199Val)
|
|
|
NM_004415.4(DSP):c.65C>G (p.Ser22Cys)
|
|
|
NM_004415.4(DSP):c.6606A>G (p.Ser2202=)
|
|
|
NM_004415.4(DSP):c.661C>T (p.His221Tyr)
|
|
|
NM_004415.4(DSP):c.6620G>C (p.Ser2207Thr)
|
|
|
NM_004415.4(DSP):c.663C>G (p.His221Gln)
|
rs1561683654
|
|
NM_004415.4(DSP):c.6646C>T (p.Pro2216Ser)
|
|
|
NM_004415.4(DSP):c.6658A>G (p.Thr2220Ala)
|
|
|
NM_004415.4(DSP):c.665G>C (p.Arg222Pro)
|
rs377749481
|
|
NM_004415.4(DSP):c.665G>T (p.Arg222Leu)
|
|
|
NM_004415.4(DSP):c.6667G>A (p.Val2223Ile)
|
|
|
NM_004415.4(DSP):c.6695C>T (p.Thr2232Ile)
|
|
|
NM_004415.4(DSP):c.6701A>T (p.Asn2234Ile)
|
|
|
NM_004415.4(DSP):c.6718C>A (p.Gln2240Lys)
|
rs374262024
|
|
NM_004415.4(DSP):c.6740G>A (p.Gly2247Asp)
|
|
|
NM_004415.4(DSP):c.6744G>C (p.Glu2248Asp)
|
rs1581822997
|
|
NM_004415.4(DSP):c.6759C>A (p.Phe2253Leu)
|
|
|
NM_004415.4(DSP):c.6760C>A (p.Leu2254Ile)
|
|
|
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.6785G>A (p.Gly2262Asp)
|
|
|
NM_004415.4(DSP):c.67G>A (p.Gly23Ser)
|
rs1757993019
|
|
NM_004415.4(DSP):c.6818G>A (p.Gly2273Asp)
|
|
|
NM_004415.4(DSP):c.6823T>C (p.Tyr2275His)
|
|
|
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.6920A>G (p.Asn2307Ser)
|
|
|
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.6981G>C (p.Glu2327Asp)
|
|
|
NM_004415.4(DSP):c.7009A>G (p.Thr2337Ala)
|
|
|
NM_004415.4(DSP):c.7014G>T (p.Gly2338=)
|
|
|
NM_004415.4(DSP):c.7021G>A (p.Asp2341Asn)
|
rs200314271
|
|
NM_004415.4(DSP):c.7024C>T (p.Pro2342Ser)
|
|
|
NM_004415.4(DSP):c.7031C>G (p.Thr2344Arg)
|
|
|
NM_004415.4(DSP):c.7031C>T (p.Thr2344Ile)
|
rs746413668
|
|
NM_004415.4(DSP):c.7033G>C (p.Gly2345Arg)
|
|
|
NM_004415.4(DSP):c.7034G>C (p.Gly2345Ala)
|
|
|
NM_004415.4(DSP):c.7034G>T (p.Gly2345Val)
|
|
|
NM_004415.4(DSP):c.7039A>C (p.Ile2347Leu)
|
rs768837509
|
|
NM_004415.4(DSP):c.7045T>C (p.Ser2349Pro)
|
|
|
NM_004415.4(DSP):c.7069G>C (p.Glu2357Gln)
|
|
|
NM_004415.4(DSP):c.7076T>C (p.Ile2359Thr)
|
|
|
NM_004415.4(DSP):c.7078G>A (p.Glu2360Lys)
|
|
|
NM_004415.4(DSP):c.7084G>A (p.Gly2362Ser)
|
|
|
NM_004415.4(DSP):c.7090G>A (p.Gly2364Ser)
|
|
|
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.7127G>A (p.Gly2376Glu)
|
|
|
NM_004415.4(DSP):c.7129_7152del (p.Ile2377_His2384del)
|
rs2113701695
|
|
NM_004415.4(DSP):c.7133T>C (p.Ile2378Thr)
|
|
|
NM_004415.4(DSP):c.7148G>A (p.Ser2383Asn)
|
|
|
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.718G>C (p.Ala240Pro)
|
rs1758741133
|
|
NM_004415.4(DSP):c.7194T>A (p.Asn2398Lys)
|
|
|
NM_004415.4(DSP):c.71C>T (p.Pro24Leu)
|
rs978383808
|
|
NM_004415.4(DSP):c.7204A>G (p.Ser2402Gly)
|
|
|
NM_004415.4(DSP):c.7204A>T (p.Ser2402Cys)
|
|
|
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.7256_7258del (p.Asn2419del)
|
|
|
NM_004415.4(DSP):c.726+4C>T
|
|
|
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.727-10_727-8del
|
|
|
NM_004415.4(DSP):c.727-11T>C
|
rs886061745
|
|
NM_004415.4(DSP):c.727-13T>A
|
|
|
NM_004415.4(DSP):c.7277A>C (p.Tyr2426Ser)
|
|
|
NM_004415.4(DSP):c.727C>A (p.Arg243Ser)
|
|
|
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.7295G>T (p.Arg2432Ile)
|
|
|
NM_004415.4(DSP):c.7305G>C (p.Lys2435Asn)
|
rs1554108998
|
|
NM_004415.4(DSP):c.7315A>G (p.Thr2439Ala)
|
|
|
NM_004415.4(DSP):c.7322T>C (p.Leu2441Pro)
|
|
|
NM_004415.4(DSP):c.7327C>T (p.Leu2443Phe)
|
rs864309585
|
|
NM_004415.4(DSP):c.732G>A (p.Glu244=)
|
|
|
NM_004415.4(DSP):c.7339A>G (p.Lys2447Glu)
|
rs1759567175
|
|
NM_004415.4(DSP):c.7343A>C (p.Glu2448Ala)
|
|
|
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.7350G>C (p.Lys2450Asn)
|
rs1561703628
|
|
NM_004415.4(DSP):c.7356G>C (p.Gln2452His)
|
|
|
NM_004415.4(DSP):c.7360C>G (p.Gln2454Glu)
|
rs373890201
|
|
NM_004415.4(DSP):c.7364C>T (p.Thr2455Ile)
|
|
|
NM_004415.4(DSP):c.7369C>G (p.Gln2457Glu)
|
|
|
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.7391G>A (p.Arg2464His)
|
|
|
NM_004415.4(DSP):c.7395A>C (p.Arg2465Ser)
|
|
|
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>G (p.Asn2474Asp)
|
|
|
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.7435G>C (p.Val2479Leu)
|
|
|
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.7478T>A (p.Phe2493Tyr)
|
|
|
NM_004415.4(DSP):c.7480A>G (p.Lys2494Glu)
|
|
|
NM_004415.4(DSP):c.7481A>G (p.Lys2494Arg)
|
|
|
NM_004415.4(DSP):c.7494G>A (p.Glu2498=)
|
|
|
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.7507T>G (p.Trp2503Gly)
|
|
|
NM_004415.4(DSP):c.7523_7525del (p.Ile2508del)
|
|
|
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.7542_7543insCGTGGT (p.Ser2514_Thr2515insArgGly)
|
|
|
NM_004415.4(DSP):c.7543_7544delinsCGTGGTATCTGGGAGGCCTACAAGAAGGGCCTAATTGATTATGAAACCTTCAAAGAACTGTGTGAGCAGGAATGTGAATGGGAAGAAATAACCATCACGGGATCAGATGGCTCCCGTGGTAA (p.Thr2515delinsArgGlyIleTrpGluAlaTyrLysLysGlyLeuIleAspTyrGluThrPheLysGluLeuCysGluGlnGluCysGluTrpGluGluIleThrIleThrGlySerAspGlySerArgGlyAsn)
|
rs2113702542
|
|
NM_004415.4(DSP):c.7544C>A (p.Thr2515Asn)
|
|
|
NM_004415.4(DSP):c.7546A>C (p.Arg2516=)
|
|
|
NM_004415.4(DSP):c.7546A>G (p.Arg2516Gly)
|
rs1304859870
|
|
NM_004415.4(DSP):c.7557G>A (p.Leu2519=)
|
rs397516957
|
|
NM_004415.4(DSP):c.7571C>G (p.Thr2524Arg)
|
|
|
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.7589T>C (p.Ile2530Thr)
|
rs768564872
|
|
NM_004415.4(DSP):c.7598C>G (p.Ala2533Gly)
|
|
|
NM_004415.4(DSP):c.7604A>G (p.Asp2535Gly)
|
rs1759583033
|
|
NM_004415.4(DSP):c.7609G>C (p.Gly2537Arg)
|
|
|
NM_004415.4(DSP):c.7610G>A (p.Gly2537Asp)
|
|
|
NM_004415.4(DSP):c.7610G>T (p.Gly2537Val)
|
|
|
NM_004415.4(DSP):c.7613T>A (p.Leu2538His)
|
|
|
NM_004415.4(DSP):c.7616T>C (p.Val2539Ala)
|
|
|
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.7632T>G (p.Phe2544Leu)
|
rs1759584747
|
|
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.7637A>C (p.Gln2546Pro)
|
|
|
NM_004415.4(DSP):c.7642C>G (p.Arg2548Gly)
|
|
|
NM_004415.4(DSP):c.7646C>T (p.Ser2549Phe)
|
|
|
NM_004415.4(DSP):c.7648G>A (p.Gly2550Ser)
|
rs781151826
|
|
NM_004415.4(DSP):c.7648G>C (p.Gly2550Arg)
|
rs781151826
|
|
NM_004415.4(DSP):c.7653C>G (p.Ser2551Arg)
|
|
|
NM_004415.4(DSP):c.7655T>C (p.Leu2552Pro)
|
|
|
NM_004415.4(DSP):c.7657A>G (p.Ser2553Gly)
|
rs769601021
|
|
NM_004415.4(DSP):c.7667A>T (p.Gln2556Leu)
|
rs760434412
|
|
NM_004415.4(DSP):c.7675G>A (p.Asp2559Asn)
|
rs2113702999
|
|
NM_004415.4(DSP):c.7679T>C (p.Met2560Thr)
|
|
|
NM_004415.4(DSP):c.7684T>C (p.Ser2562Pro)
|
|
|
NM_004415.4(DSP):c.7684T>G (p.Ser2562Ala)
|
|
|
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.7712G>A (p.Ser2571Asn)
|
|
|
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.7721G>A (p.Gly2574Asp)
|
|
|
NM_004415.4(DSP):c.7728T>G (p.Gly2576=)
|
rs545149894
|
|
NM_004415.4(DSP):c.7732A>G (p.Ser2578Gly)
|
|
|
NM_004415.4(DSP):c.7732A>T (p.Ser2578Cys)
|
|
|
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.7757G>A (p.Arg2586Gln)
|
|
|
NM_004415.4(DSP):c.7762G>C (p.Glu2588Gln)
|
|
|
NM_004415.4(DSP):c.7768G>A (p.Val2590Ile)
|
|
|
NM_004415.4(DSP):c.776T>C (p.Leu259Pro)
|
rs1758774627
|
|
NM_004415.4(DSP):c.777+5G>A
|
|
|
NM_004415.4(DSP):c.777+5G>T
|
|
|
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.7795G>A (p.Val2599Ile)
|
|
|
NM_004415.4(DSP):c.7817G>A (p.Ser2606Asn)
|
rs199597935
|
|
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.7850G>A (p.Ser2617Asn)
|
rs766739838
|
|
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.7900A>G (p.Thr2634Ala)
|
rs373200747
|
|
NM_004415.4(DSP):c.7902A>C (p.Thr2634=)
|
|
|
NM_004415.4(DSP):c.7906G>T (p.Gly2636Cys)
|
|
|
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.7915C>G (p.Arg2639Gly)
|
|
|
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.7981A>T (p.Ile2661Phe)
|
|
|
NM_004415.4(DSP):c.7987C>G (p.Pro2663Ala)
|
|
|
NM_004415.4(DSP):c.7991C>A (p.Thr2664Asn)
|
rs1759611499
|
|
NM_004415.4(DSP):c.7997G>A (p.Gly2666Asp)
|
rs750085948
|
|
NM_004415.4(DSP):c.8000A>G (p.Gln2667Arg)
|
|
|
NM_004415.4(DSP):c.801T>A (p.Asp267Glu)
|
|
|
NM_004415.4(DSP):c.8021C>G (p.Ala2674Gly)
|
rs778480531
|
|
NM_004415.4(DSP):c.802C>A (p.His268Asn)
|
|
|
NM_004415.4(DSP):c.8043C>G (p.Asp2681Glu)
|
|
|
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.8093T>G (p.Phe2698Cys)
|
|
|
NM_004415.4(DSP):c.8101G>A (p.Val2701Met)
|
rs1561704928
|
|
NM_004415.4(DSP):c.8121G>A (p.Met2707Ile)
|
|
|
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.8125G>A (p.Ala2709Thr)
|
|
|
NM_004415.4(DSP):c.8128G>A (p.Ala2710Thr)
|
|
|
NM_004415.4(DSP):c.8129C>A (p.Ala2710Glu)
|
|
|
NM_004415.4(DSP):c.8134G>T (p.Ala2712Ser)
|
|
|
NM_004415.4(DSP):c.8138T>G (p.Val2713Gly)
|
rs1759621076
|
|
NM_004415.4(DSP):c.8143G>A (p.Glu2715Lys)
|
|
|
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.8164G>A (p.Ala2722Thr)
|
|
|
NM_004415.4(DSP):c.8165C>G (p.Ala2722Gly)
|
|
|
NM_004415.4(DSP):c.8171A>G (p.Gln2724Arg)
|
rs1759623133
|
|
NM_004415.4(DSP):c.8178C>G (p.Phe2726Leu)
|
|
|
NM_004415.4(DSP):c.8182G>A (p.Glu2728Lys)
|
|
|
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.8199G>A (p.Thr2733=)
|
rs145085696
|
|
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.820A>C (p.Asn274His)
|
|
|
NM_004415.4(DSP):c.8213A>G (p.Asp2738Gly)
|
rs2113704486
|
|
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.8258A>G (p.Lys2753Arg)
|
|
|
NM_004415.4(DSP):c.8260G>A (p.Gly2754Arg)
|
|
|
NM_004415.4(DSP):c.8260G>C (p.Gly2754Arg)
|
|
|
NM_004415.4(DSP):c.8264dup (p.Ile2756fs)
|
|
|
NM_004415.4(DSP):c.8269G>C (p.Asp2757His)
|
|
|
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.8286G>C (p.Gln2762His)
|
|
|
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.8310T>A (p.Tyr2770Ter)
|
|
|
NM_004415.4(DSP):c.8316A>C (p.Lys2772Asn)
|
|
|
NM_004415.4(DSP):c.8317A>G (p.Ile2773Val)
|
|
|
NM_004415.4(DSP):c.8319C>G (p.Ile2773Met)
|
|
|
NM_004415.4(DSP):c.8319_8341del (p.Leu2774fs)
|
rs2113704840
|
|
NM_004415.4(DSP):c.8324C>G (p.Thr2775Ser)
|
|
|
NM_004415.4(DSP):c.8330C>T (p.Pro2777Leu)
|
|
|
NM_004415.4(DSP):c.8342T>C (p.Leu2781Ser)
|
|
|
NM_004415.4(DSP):c.8343A>T (p.Leu2781Phe)
|
|
|
NM_004415.4(DSP):c.8346A>T (p.Lys2782Asn)
|
|
|
NM_004415.4(DSP):c.8363C>T (p.Ala2788Val)
|
rs748307773
|
|
NM_004415.4(DSP):c.8365A>G (p.Ile2789Val)
|
rs397516965
|
|
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.8383G>C (p.Glu2795Gln)
|
|
|
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.8419T>C (p.Ser2807Pro)
|
|
|
NM_004415.4(DSP):c.8426C>T (p.Ser2809Leu)
|
|
|
NM_004415.4(DSP):c.8431A>G (p.Lys2811Glu)
|
|
|
NM_004415.4(DSP):c.8432A>C (p.Lys2811Thr)
|
|
|
NM_004415.4(DSP):c.8434G>A (p.Gly2812Ser)
|
|
|
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.8458T>C (p.Ser2820Pro)
|
|
|
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.8471G>C (p.Gly2824Ala)
|
|
|
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.8481_8492del (p.2827_2830SGSR[4])
|
rs397516968
|
|
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.8495G>C (p.Gly2832Ala)
|
rs397516970
|
|
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.8498C>T (p.Ser2833Phe)
|
|
|
NM_004415.4(DSP):c.8506G>A (p.Gly2836Arg)
|
|
|
NM_004415.4(DSP):c.8507G>C (p.Gly2836Ala)
|
|
|
NM_004415.4(DSP):c.8512C>T (p.Arg2838Cys)
|
|
|
NM_004415.4(DSP):c.8513G>A (p.Arg2838His)
|
rs930055191
|
|
NM_004415.4(DSP):c.8514_8515insAG (p.Gly2840fs)
|
|
|
NM_004415.4(DSP):c.8515T>G (p.Ser2839Ala)
|
|
|
NM_004415.4(DSP):c.8515_8526dup (p.Arg2846_Arg2847insSerGlySerArg)
|
|
|
NM_004415.4(DSP):c.8516C>T (p.Ser2839Phe)
|
rs750438076
|
|
NM_004415.4(DSP):c.8516_8517del (p.Ser2839fs)
|
|
|
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.8553C>T (p.Asp2851=)
|
rs1554109307
|
|
NM_004415.4(DSP):c.8554_8555dup (p.Thr2853fs)
|
|
|
NM_004415.4(DSP):c.8565T>G (p.Asn2855Lys)
|
|
|
NM_004415.4(DSP):c.8573A>G (p.Tyr2858Cys)
|
rs1759654706
|
|
NM_004415.4(DSP):c.8576C>G (p.Ser2859Cys)
|
|
|
NM_004415.4(DSP):c.8576_8577del (p.Ser2859fs)
|
rs727504909
|
|
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.8582_8591del (p.Ser2861fs)
|
|
|
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.8605A>T (p.Ile2869Phe)
|
|
|
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.887A>C (p.Tyr296Ser)
|
|
|
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.903G>C (p.Lys301Asn)
|
|
|
NM_004415.4(DSP):c.903G>T (p.Lys301Asn)
|
|
|
NM_004415.4(DSP):c.905A>T (p.Asn302Ile)
|
|
|
NM_004415.4(DSP):c.90G>A (p.Val30=)
|
|
|
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.939+5G>T
|
|
|
NM_004415.4(DSP):c.940-7T>G
|
rs1368622056
|
|
NM_004415.4(DSP):c.944G>A (p.Arg315His)
|
rs558825586
|
|
NM_004415.4(DSP):c.944G>C (p.Arg315Pro)
|
|
|
NM_004415.4(DSP):c.944_945delinsAA (p.Arg315Gln)
|
|
|
NM_004415.4(DSP):c.947T>G (p.Met316Arg)
|
|
|
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.95G>A (p.Ser32Asn)
|
|
|
NM_004415.4(DSP):c.962T>A (p.Val321Asp)
|
|
|
NM_004415.4(DSP):c.967G>C (p.Glu323Gln)
|
rs1057522287
|
|
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.974A>G (p.Glu325Gly)
|
|
|
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
|
|