NM_004415.4(DSP):c.741= (p.Ala247=)
|
rs2806234
|
0.99917
|
NM_004415.4(DSP):c.2091A>G (p.Gly697=)
|
rs2076304
|
0.76849
|
NM_004415.4(DSP):c.2631G>A (p.Arg877=)
|
rs1016835
|
0.74603
|
NM_004415.4(DSP):c.8472G>C (p.Gly2824=)
|
rs2744380
|
0.68624
|
NM_004415.4(DSP):c.7122C>T (p.Thr2374=)
|
rs2076300
|
0.28306
|
NM_004415.4(DSP):c.2862C>T (p.Cys954=)
|
rs2064217
|
0.27166
|
NM_004415.4(DSP):c.5213G>A (p.Arg1738Gln)
|
rs6929069
|
0.19612
|
NM_004415.4(DSP):c.1dup (p.Met1fs)
|
rs17133512
|
0.17362
|
NM_004415.4(DSP):c.4535A>G (p.Tyr1512Cys)
|
rs2076299
|
0.13777
|
NM_004415.4(DSP):c.126T>C (p.Tyr42=)
|
rs36087964
|
0.06956
|
NM_004415.4(DSP):c.4578C>A (p.Asn1526Lys)
|
rs28763966
|
0.04717
|
NM_004415.4(DSP):c.8175C>A (p.Arg2725=)
|
rs11558731
|
0.04375
|
NM_004415.4(DSP):c.913A>T (p.Ile305Phe)
|
rs17604693
|
0.02655
|
NM_004415.4(DSP):c.4773G>A (p.Arg1591=)
|
rs28763968
|
0.01341
|
NM_004415.4(DSP):c.2815G>A (p.Gly939Ser)
|
rs80325569
|
0.01244
|
NM_004415.4(DSP):c.3963G>A (p.Gln1321=)
|
rs61731476
|
0.01161
|
NM_004415.4(DSP):c.3510G>A (p.Glu1170=)
|
rs28763964
|
0.01023
|
NM_004415.4(DSP):c.6390T>C (p.Ala2130=)
|
rs28763969
|
0.00940
|
NM_004415.4(DSP):c.4609C>T (p.Arg1537Cys)
|
rs28763967
|
0.00925
|
NM_004415.4(DSP):c.5498A>T (p.Glu1833Val)
|
rs78652302
|
0.00908
|
NM_004415.4(DSP):c.1481A>T (p.Tyr494Phe)
|
rs28763961
|
0.00618
|
NM_004415.4(DSP):c.4455G>T (p.Arg1485Ser)
|
rs113902911
|
0.00572
|
NM_004415.4(DSP):c.6208G>A (p.Asp2070Asn)
|
rs41302885
|
0.00290
|
NM_004415.4(DSP):c.2596C>T (p.Arg866Cys)
|
rs142429411
|
0.00214
|
NM_004415.4(DSP):c.4383G>A (p.Glu1461=)
|
rs140029036
|
0.00197
|
NM_004415.4(DSP):c.4588G>T (p.Val1530Phe)
|
rs141227126
|
0.00197
|
NM_004415.4(DSP):c.1488G>A (p.Thr496=)
|
rs35820473
|
0.00195
|
NM_004415.4(DSP):c.1206G>A (p.Lys402=)
|
rs150422458
|
0.00185
|
NM_004415.4(DSP):c.4489C>T (p.Arg1497Trp)
|
rs148041814
|
0.00178
|
NM_004415.4(DSP):c.1920C>T (p.Ile640=)
|
rs74806300
|
0.00156
|
NM_004415.4(DSP):c.6678T>A (p.Gly2226=)
|
rs149070106
|
0.00139
|
NM_004415.4(DSP):c.3696C>A (p.Ser1232=)
|
rs141120358
|
0.00132
|
NM_004415.4(DSP):c.4372C>G (p.Arg1458Gly)
|
rs28763965
|
0.00131
|
NM_004415.4(DSP):c.2346C>T (p.Asp782=)
|
rs139071827
|
0.00126
|
NM_004415.4(DSP):c.522T>C (p.Cys174=)
|
rs144781697
|
0.00124
|
NM_004415.4(DSP):c.8455A>C (p.Met2819Leu)
|
rs138329459
|
0.00103
|
NM_004415.4(DSP):c.88G>A (p.Val30Met)
|
rs121912998
|
0.00094
|
NM_004415.4(DSP):c.5218G>A (p.Glu1740Lys)
|
rs142885240
|
0.00091
|
NM_004415.4(DSP):c.7734C>T (p.Ser2578=)
|
rs28763970
|
0.00087
|
NM_004415.4(DSP):c.8605A>G (p.Ile2869Val)
|
rs28763971
|
0.00077
|
NM_004415.4(DSP):c.4065T>C (p.Tyr1355=)
|
rs148478829
|
0.00073
|
NM_004415.4(DSP):c.782C>T (p.Ala261Val)
|
rs139509870
|
0.00067
|
NM_004415.4(DSP):c.6881C>G (p.Ala2294Gly)
|
rs147000526
|
0.00062
|
NM_004415.4(DSP):c.1778A>G (p.Asn593Ser)
|
rs34239595
|
0.00055
|
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.2723G>A (p.Arg908His)
|
rs142494121
|
0.00041
|
NM_004415.4(DSP):c.5167G>C (p.Glu1723Gln)
|
rs142803672
|
0.00041
|
NM_004415.4(DSP):c.4500G>T (p.Leu1500=)
|
rs372881903
|
0.00039
|
NM_004415.4(DSP):c.688G>A (p.Asp230Asn)
|
rs147315869
|
0.00038
|
NM_004415.4(DSP):c.3923G>A (p.Arg1308Gln)
|
rs184154918
|
0.00037
|
NM_004415.4(DSP):c.6319G>C (p.Val2107Leu)
|
rs144263721
|
0.00036
|
NM_004415.4(DSP):c.8199G>C (p.Thr2733=)
|
rs145085696
|
0.00036
|
NM_004415.4(DSP):c.2288A>G (p.Tyr763Cys)
|
rs113967308
|
0.00034
|
NM_004415.4(DSP):c.5178C>A (p.Asn1726Lys)
|
rs147415451
|
0.00033
|
NM_004415.4(DSP):c.531C>G (p.Gly177=)
|
rs138865799
|
0.00032
|
NM_004415.4(DSP):c.273+5G>A
|
rs200473206
|
0.00031
|
NM_004415.4(DSP):c.5991G>A (p.Gly1997=)
|
rs538244495
|
0.00029
|
NM_004415.4(DSP):c.1154C>T (p.Ala385Val)
|
rs146737031
|
0.00027
|
NM_004415.4(DSP):c.1696G>A (p.Ala566Thr)
|
rs148147581
|
0.00026
|
NM_004415.4(DSP):c.7916G>A (p.Arg2639Gln)
|
rs116888866
|
0.00026
|
NM_004415.4(DSP):c.3297G>C (p.Lys1099Asn)
|
rs370550974
|
0.00025
|
NM_004415.4(DSP):c.7848G>A (p.Ser2616=)
|
rs148798300
|
0.00025
|
NM_004415.4(DSP):c.6381C>T (p.Ala2127=)
|
rs146315412
|
0.00024
|
NM_004415.4(DSP):c.2794-4dup
|
rs397516924
|
0.00023
|
NM_004415.4(DSP):c.6207C>T (p.Val2069=)
|
rs147398792
|
0.00022
|
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.6010G>T (p.Val2004Phe)
|
rs764692193
|
0.00019
|
NM_004415.4(DSP):c.6247C>T (p.Arg2083Cys)
|
rs370093129
|
0.00019
|
NM_004415.4(DSP):c.6351T>C (p.Asp2117=)
|
rs148743859
|
0.00019
|
NM_004415.4(DSP):c.8415C>T (p.Ala2805=)
|
rs377148997
|
0.00019
|
NM_004415.4(DSP):c.961G>C (p.Val321Leu)
|
rs143994626
|
0.00019
|
NM_004415.4(DSP):c.269A>G (p.Gln90Arg)
|
rs188516326
|
0.00018
|
NM_004415.4(DSP):c.2121C>T (p.Asn707=)
|
rs368590198
|
0.00017
|
NM_004415.4(DSP):c.3153C>T (p.Asn1051=)
|
rs563387839
|
0.00017
|
NM_004415.4(DSP):c.2468C>T (p.Ser823Leu)
|
rs141834182
|
0.00016
|
NM_004415.4(DSP):c.3706A>G (p.Arg1236Gly)
|
rs377098318
|
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.7599T>C (p.Ala2533=)
|
rs374266378
|
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.6192T>C (p.Asn2064=)
|
rs371230455
|
0.00014
|
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.4386C>T (p.Ser1462=)
|
rs149981214
|
0.00013
|
NM_004415.4(DSP):c.2037A>G (p.Ile679Met)
|
rs151049942
|
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.237C>T (p.Ser79=)
|
rs146521568
|
0.00011
|
NM_004415.4(DSP):c.3646A>G (p.Ile1216Val)
|
rs199795359
|
0.00011
|
NM_004415.4(DSP):c.5744G>A (p.Arg1915His)
|
rs146617683
|
0.00011
|
NM_004415.4(DSP):c.6360C>T (p.Thr2120=)
|
rs374252141
|
0.00011
|
NM_004415.4(DSP):c.6566G>A (p.Arg2189Gln)
|
rs766933370
|
0.00011
|
NM_004415.4(DSP):c.6753G>A (p.Lys2251=)
|
rs750294829
|
0.00011
|
NM_004415.4(DSP):c.6799A>T (p.Thr2267Ser)
|
rs181378432
|
0.00011
|
NM_004415.4(DSP):c.687C>T (p.Gly229=)
|
rs112877191
|
0.00011
|
NM_004415.4(DSP):c.816G>A (p.Leu272=)
|
rs376184294
|
0.00011
|
NM_004415.4(DSP):c.8173C>T (p.Arg2725Cys)
|
rs141078292
|
0.00011
|
NM_004415.4(DSP):c.897C>T (p.Ser299=)
|
rs121912992
|
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.4780C>T (p.Leu1594=)
|
rs149463707
|
0.00010
|
NM_004415.4(DSP):c.5304G>C (p.Gly1768=)
|
rs530612211
|
0.00010
|
NM_004415.4(DSP):c.6307A>G (p.Lys2103Glu)
|
rs149513743
|
0.00010
|
NM_004415.4(DSP):c.7278T>C (p.Tyr2426=)
|
rs78843072
|
0.00010
|
NM_004415.4(DSP):c.8493G>C (p.Ser2831=)
|
rs397516969
|
0.00010
|
NM_004415.4(DSP):c.987G>A (p.Leu329=)
|
rs564435126
|
0.00010
|
NM_004415.4(DSP):c.2799G>C (p.Leu933Phe)
|
rs372922674
|
0.00009
|
NM_004415.4(DSP):c.3096C>T (p.Thr1032=)
|
rs139199849
|
0.00009
|
NM_004415.4(DSP):c.3981C>T (p.Ile1327=)
|
rs397516934
|
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.4750G>A (p.Ala1584Thr)
|
rs191778417
|
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.5796C>G (p.Arg1932=)
|
rs148845182
|
0.00009
|
NM_004415.4(DSP):c.667G>A (p.Gly223Ser)
|
rs200806163
|
0.00009
|
NM_004415.4(DSP):c.7077C>T (p.Ile2359=)
|
rs966841386
|
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.888C>T (p.Tyr296=)
|
rs149701627
|
0.00008
|
NM_004415.4(DSP):c.1839C>T (p.Thr613=)
|
rs397516921
|
0.00007
|
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.4749C>T (p.Thr1583=)
|
rs745348231
|
0.00007
|
NM_004415.4(DSP):c.4901G>A (p.Arg1634Gln)
|
rs144106775
|
0.00007
|
NM_004415.4(DSP):c.4943A>G (p.Gln1648Arg)
|
rs202232360
|
0.00007
|
NM_004415.4(DSP):c.5363A>G (p.Gln1788Arg)
|
rs139673146
|
0.00007
|
NM_004415.4(DSP):c.7563T>C (p.Asp2521=)
|
rs984412074
|
0.00007
|
NM_004415.4(DSP):c.8172G>T (p.Gln2724His)
|
rs372569211
|
0.00007
|
NM_004415.4(DSP):c.1155G>A (p.Ala385=)
|
rs140488069
|
0.00006
|
NM_004415.4(DSP):c.1494G>A (p.Pro498=)
|
rs764544754
|
0.00006
|
NM_004415.4(DSP):c.183G>A (p.Thr61=)
|
rs150383703
|
0.00006
|
NM_004415.4(DSP):c.2122G>A (p.Glu708Lys)
|
rs773113261
|
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.4320G>A (p.Val1440=)
|
rs571103583
|
0.00006
|
NM_004415.4(DSP):c.4793T>A (p.Leu1598Gln)
|
rs369449858
|
0.00006
|
NM_004415.4(DSP):c.4914C>T (p.Asp1638=)
|
rs750113099
|
0.00006
|
NM_004415.4(DSP):c.5417C>G (p.Thr1806Ser)
|
rs149773722
|
0.00006
|
NM_004415.4(DSP):c.5463C>T (p.Val1821=)
|
rs961915749
|
0.00006
|
NM_004415.4(DSP):c.561C>T (p.Val187=)
|
rs199585428
|
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.6654C>T (p.Thr2218=)
|
rs727503005
|
0.00006
|
NM_004415.4(DSP):c.729C>T (p.Arg243=)
|
rs141028505
|
0.00006
|
NM_004415.4(DSP):c.7548G>A (p.Arg2516=)
|
rs756527780
|
0.00006
|
NM_004415.4(DSP):c.783G>A (p.Ala261=)
|
rs764596108
|
0.00006
|
NM_004415.4(DSP):c.8268A>C (p.Ile2756=)
|
rs397516963
|
0.00006
|
NM_004415.4(DSP):c.915C>T (p.Ile305=)
|
rs148395326
|
0.00006
|
NM_004415.4(DSP):c.1983T>C (p.Asn661=)
|
rs770735715
|
0.00005
|
NM_004415.4(DSP):c.2247A>G (p.Leu749=)
|
rs28763963
|
0.00005
|
NM_004415.4(DSP):c.2569G>A (p.Gly857Ser)
|
rs548695484
|
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.4401A>G (p.Gln1467=)
|
rs199818953
|
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.5555G>A (p.Arg1852His)
|
rs193922669
|
0.00005
|
NM_004415.4(DSP):c.6452G>A (p.Arg2151Gln)
|
rs367759510
|
0.00005
|
NM_004415.4(DSP):c.6718C>G (p.Gln2240Glu)
|
rs374262024
|
0.00005
|
NM_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.916G>A (p.Ala306Thr)
|
rs368193211
|
0.00005
|
NM_004415.4(DSP):c.1005A>G (p.Gln335=)
|
rs200961741
|
0.00004
|
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.1413A>G (p.Gln471=)
|
rs376983987
|
0.00004
|
NM_004415.4(DSP):c.1443G>A (p.Glu481=)
|
rs149126992
|
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.2622C>G (p.Ile874Met)
|
rs751067479
|
0.00004
|
NM_004415.4(DSP):c.2631-5C>T
|
rs773772683
|
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.2796C>T (p.Asn932=)
|
rs368981849
|
0.00004
|
NM_004415.4(DSP):c.2866A>T (p.Asn956Tyr)
|
rs397516928
|
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.4752G>A (p.Ala1584=)
|
rs201213622
|
0.00004
|
NM_004415.4(DSP):c.4915G>A (p.Val1639Met)
|
rs539587517
|
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.5554C>T (p.Arg1852Cys)
|
rs550818559
|
0.00004
|
NM_004415.4(DSP):c.5668A>G (p.Arg1890Gly)
|
rs762079110
|
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.598-4G>A
|
rs747448946
|
0.00004
|
NM_004415.4(DSP):c.6240C>T (p.Phe2080=)
|
rs757650857
|
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.7035A>G (p.Gly2345=)
|
rs780379988
|
0.00004
|
NM_004415.4(DSP):c.7128G>T (p.Gly2376=)
|
rs756684406
|
0.00004
|
NM_004415.4(DSP):c.7332G>T (p.Leu2444=)
|
rs1330371919
|
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.8229G>A (p.Gly2743=)
|
rs1060503979
|
0.00004
|
NM_004415.4(DSP):c.8259G>A (p.Lys2753=)
|
rs1005570207
|
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.1103T>C (p.Ile368Thr)
|
rs141163578
|
0.00003
|
NM_004415.4(DSP):c.1324T>G (p.Ser442Ala)
|
rs755492444
|
0.00003
|
NM_004415.4(DSP):c.1512T>C (p.Leu504=)
|
rs537526794
|
0.00003
|
NM_004415.4(DSP):c.1695C>T (p.Ile565=)
|
rs752714010
|
0.00003
|
NM_004415.4(DSP):c.1743C>T (p.Ala581=)
|
rs139095230
|
0.00003
|
NM_004415.4(DSP):c.201C>T (p.Asn67=)
|
rs774432635
|
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.2052C>A (p.Gly684=)
|
rs760191477
|
0.00003
|
NM_004415.4(DSP):c.2310A>C (p.Val770=)
|
rs762909119
|
0.00003
|
NM_004415.4(DSP):c.2546A>G (p.Tyr849Cys)
|
rs778636665
|
0.00003
|
NM_004415.4(DSP):c.2722C>T (p.Arg908Cys)
|
rs376932045
|
0.00003
|
NM_004415.4(DSP):c.3153C>A (p.Asn1051Lys)
|
rs563387839
|
0.00003
|
NM_004415.4(DSP):c.3231G>A (p.Ala1077=)
|
rs368214030
|
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.363C>T (p.Leu121=)
|
rs748204541
|
0.00003
|
NM_004415.4(DSP):c.3650C>T (p.Thr1217Met)
|
rs535202724
|
0.00003
|
NM_004415.4(DSP):c.3760G>A (p.Val1254Ile)
|
rs778448699
|
0.00003
|
NM_004415.4(DSP):c.4005G>A (p.Gln1335=)
|
rs775720924
|
0.00003
|
NM_004415.4(DSP):c.4041A>G (p.Glu1347=)
|
rs200671552
|
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.4377A>G (p.Thr1459=)
|
rs771910118
|
0.00003
|
NM_004415.4(DSP):c.4387G>A (p.Val1463Ile)
|
rs948230523
|
0.00003
|
NM_004415.4(DSP):c.4540C>T (p.Leu1514=)
|
rs754783192
|
0.00003
|
NM_004415.4(DSP):c.4573A>G (p.Ile1525Val)
|
rs145796901
|
0.00003
|
NM_004415.4(DSP):c.4741A>G (p.Lys1581Glu)
|
rs186842903
|
0.00003
|
NM_004415.4(DSP):c.484C>T (p.Arg162Cys)
|
rs760711308
|
0.00003
|
NM_004415.4(DSP):c.5066T>C (p.Ile1689Thr)
|
rs869025394
|
0.00003
|
NM_004415.4(DSP):c.5154G>A (p.Leu1718=)
|
rs376620183
|
0.00003
|
NM_004415.4(DSP):c.5223G>A (p.Ala1741=)
|
rs201984474
|
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.6062C>G (p.Ala2021Gly)
|
rs760673242
|
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.6416A>G (p.Asn2139Ser)
|
rs765687440
|
0.00003
|
NM_004415.4(DSP):c.6496C>A (p.Arg2166=)
|
rs141026028
|
0.00003
|
NM_004415.4(DSP):c.665G>A (p.Arg222Gln)
|
rs377749481
|
0.00003
|
NM_004415.4(DSP):c.7014G>C (p.Gly2338=)
|
rs1054965369
|
0.00003
|
NM_004415.4(DSP):c.7123G>A (p.Gly2375Arg)
|
rs376923069
|
0.00003
|
NM_004415.4(DSP):c.7569G>A (p.Lys2523=)
|
rs1230846776
|
0.00003
|
NM_004415.4(DSP):c.7653C>T (p.Ser2551=)
|
rs746983874
|
0.00003
|
NM_004415.4(DSP):c.8401C>G (p.Arg2801Gly)
|
rs760215987
|
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.1191C>T (p.Asp397=)
|
rs1046392713
|
0.00002
|
NM_004415.4(DSP):c.1215C>T (p.Cys405=)
|
rs377500825
|
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.1522G>A (p.Val508Met)
|
rs751537483
|
0.00002
|
NM_004415.4(DSP):c.1677G>A (p.Lys559=)
|
rs143356115
|
0.00002
|
NM_004415.4(DSP):c.1732A>C (p.Lys578Gln)
|
rs761478865
|
0.00002
|
NM_004415.4(DSP):c.1816C>T (p.Arg606Trp)
|
rs372467697
|
0.00002
|
NM_004415.4(DSP):c.1903+4G>A
|
rs757726608
|
0.00002
|
NM_004415.4(DSP):c.2000G>C (p.Trp667Ser)
|
rs760214732
|
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.2275G>A (p.Val759Ile)
|
rs745544854
|
0.00002
|
NM_004415.4(DSP):c.2329A>G (p.Ile777Val)
|
rs755860619
|
0.00002
|
NM_004415.4(DSP):c.2364A>G (p.Glu788=)
|
rs1397865751
|
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.2568C>T (p.Phe856=)
|
rs746036365
|
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.2861G>A (p.Cys954Tyr)
|
rs779878192
|
0.00002
|
NM_004415.4(DSP):c.3147G>A (p.Ser1049=)
|
rs756341143
|
0.00002
|
NM_004415.4(DSP):c.3282G>A (p.Lys1094=)
|
rs2491080
|
0.00002
|
NM_004415.4(DSP):c.3303C>T (p.Tyr1101=)
|
rs372440854
|
0.00002
|
NM_004415.4(DSP):c.3388G>A (p.Asp1130Asn)
|
rs765769174
|
0.00002
|
NM_004415.4(DSP):c.3661A>G (p.Ile1221Val)
|
rs794728120
|
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.4104C>A (p.Thr1368=)
|
rs1464715776
|
0.00002
|
NM_004415.4(DSP):c.4221A>G (p.Glu1407=)
|
rs144427450
|
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.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.4767C>T (p.Cys1589=)
|
rs763203149
|
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.517A>T (p.Thr173Ser)
|
rs1372912970
|
0.00002
|
NM_004415.4(DSP):c.5193C>T (p.Tyr1731=)
|
rs201663619
|
0.00002
|
NM_004415.4(DSP):c.5383T>A (p.Ser1795Thr)
|
rs764279057
|
0.00002
|
NM_004415.4(DSP):c.5913G>T (p.Leu1971=)
|
rs373416071
|
0.00002
|
NM_004415.4(DSP):c.5932A>G (p.Met1978Val)
|
rs770077556
|
0.00002
|
NM_004415.4(DSP):c.6054C>T (p.Ile2018=)
|
rs369700204
|
0.00002
|
NM_004415.4(DSP):c.6345G>T (p.Leu2115Phe)
|
rs766950975
|
0.00002
|
NM_004415.4(DSP):c.6397G>A (p.Gly2133Ser)
|
rs372393122
|
0.00002
|
NM_004415.4(DSP):c.6476A>T (p.Tyr2159Phe)
|
rs1581822548
|
0.00002
|
NM_004415.4(DSP):c.6542T>C (p.Val2181Ala)
|
rs730880088
|
0.00002
|
NM_004415.4(DSP):c.6597C>T (p.Leu2199=)
|
rs567782337
|
0.00002
|
NM_004415.4(DSP):c.6655G>A (p.Val2219Ile)
|
rs397516953
|
0.00002
|
NM_004415.4(DSP):c.668G>A (p.Gly223Asp)
|
rs199509943
|
0.00002
|
NM_004415.4(DSP):c.6762C>T (p.Leu2254=)
|
rs138683913
|
0.00002
|
NM_004415.4(DSP):c.7116C>T (p.Ile2372=)
|
rs185213858
|
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.7310A>G (p.Glu2437Gly)
|
rs794728132
|
0.00002
|
NM_004415.4(DSP):c.740C>T (p.Ala247Val)
|
rs544360130
|
0.00002
|
NM_004415.4(DSP):c.7575C>T (p.Gly2525=)
|
rs780156504
|
0.00002
|
NM_004415.4(DSP):c.7622G>A (p.Arg2541Lys)
|
rs142078450
|
0.00002
|
NM_004415.4(DSP):c.7836C>T (p.Thr2612=)
|
rs762381028
|
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.797T>C (p.Met266Thr)
|
rs370890663
|
0.00002
|
NM_004415.4(DSP):c.8042A>C (p.Asp2681Ala)
|
rs746166372
|
0.00002
|
NM_004415.4(DSP):c.8109A>G (p.Gly2703=)
|
rs78736738
|
0.00002
|
NM_004415.4(DSP):c.8233A>G (p.Ile2745Val)
|
rs747284663
|
0.00002
|
NM_004415.4(DSP):c.8256G>A (p.Arg2752=)
|
rs1313648350
|
0.00002
|
NM_004415.4(DSP):c.8374T>A (p.Ser2792Thr)
|
rs727504570
|
0.00002
|
NM_004415.4(DSP):c.8394T>A (p.Thr2798=)
|
rs775346694
|
0.00002
|
NM_004415.4(DSP):c.8402G>A (p.Arg2801His)
|
rs763712887
|
0.00002
|
NM_004415.4(DSP):c.8484C>G (p.Gly2828=)
|
rs1467235605
|
0.00002
|
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.106G>A (p.Gly36Ser)
|
rs1395509692
|
0.00001
|
NM_004415.4(DSP):c.108C>T (p.Gly36=)
|
rs755510597
|
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.1274G>A (p.Arg425Gln)
|
rs397516916
|
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.1383T>C (p.Ile461=)
|
rs1758933736
|
0.00001
|
NM_004415.4(DSP):c.1410A>G (p.Lys470=)
|
rs1554106858
|
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.1482C>T (p.Tyr494=)
|
rs772925425
|
0.00001
|
NM_004415.4(DSP):c.1502T>C (p.Val501Ala)
|
rs544017143
|
0.00001
|
NM_004415.4(DSP):c.153G>A (p.Gln51=)
|
rs1450725914
|
0.00001
|
NM_004415.4(DSP):c.1545G>A (p.Pro515=)
|
rs747953037
|
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.1582C>G (p.Gln528Glu)
|
rs1267435790
|
0.00001
|
NM_004415.4(DSP):c.1671A>G (p.Ile557Met)
|
rs766505506
|
0.00001
|
NM_004415.4(DSP):c.171-4T>C
|
rs1554105598
|
0.00001
|
NM_004415.4(DSP):c.1715G>A (p.Arg572Gln)
|
rs370531666
|
0.00001
|
NM_004415.4(DSP):c.1725T>C (p.Asp575=)
|
rs756392585
|
0.00001
|
NM_004415.4(DSP):c.1730T>C (p.Met577Thr)
|
rs141956992
|
0.00001
|
NM_004415.4(DSP):c.1812C>T (p.Asp604=)
|
rs1428325875
|
0.00001
|
NM_004415.4(DSP):c.182C>T (p.Thr61Met)
|
rs200250096
|
0.00001
|
NM_004415.4(DSP):c.1860G>A (p.Gln620=)
|
rs762658467
|
0.00001
|
NM_004415.4(DSP):c.1864C>T (p.Leu622=)
|
rs200790278
|
0.00001
|
NM_004415.4(DSP):c.1901C>G (p.Thr634Arg)
|
rs139964486
|
0.00001
|
NM_004415.4(DSP):c.1973A>G (p.Asn658Ser)
|
rs749183448
|
0.00001
|
NM_004415.4(DSP):c.197A>T (p.Gln66Leu)
|
rs794728152
|
0.00001
|
NM_004415.4(DSP):c.2030G>A (p.Arg677Lys)
|
rs749238502
|
0.00001
|
NM_004415.4(DSP):c.2081C>T (p.Ala694Val)
|
rs543446763
|
0.00001
|
NM_004415.4(DSP):c.2192C>A (p.Ala731Asp)
|
rs1280322841
|
0.00001
|
NM_004415.4(DSP):c.2194A>G (p.Asn732Asp)
|
rs746785505
|
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.2280A>C (p.Thr760=)
|
rs1375561193
|
0.00001
|
NM_004415.4(DSP):c.2316A>T (p.Ala772=)
|
rs754896726
|
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.2469G>A (p.Ser823=)
|
rs368945617
|
0.00001
|
NM_004415.4(DSP):c.2472G>A (p.Leu824=)
|
rs763798166
|
0.00001
|
NM_004415.4(DSP):c.249G>A (p.Met83Ile)
|
rs1426930663
|
0.00001
|
NM_004415.4(DSP):c.2550_2552dup (p.Leu851dup)
|
rs730880373
|
0.00001
|
NM_004415.4(DSP):c.2597G>A (p.Arg866His)
|
rs764965132
|
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.2644G>A (p.Glu882Lys)
|
rs730880081
|
0.00001
|
NM_004415.4(DSP):c.2689G>C (p.Ala897Pro)
|
rs1008407158
|
0.00001
|
NM_004415.4(DSP):c.268C>T (p.Gln90Ter)
|
rs886039343
|
0.00001
|
NM_004415.4(DSP):c.26C>A (p.Pro9Gln)
|
rs1303669220
|
0.00001
|
NM_004415.4(DSP):c.2728G>A (p.Asp910Asn)
|
rs775080138
|
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.2924T>C (p.Leu975Pro)
|
rs1473895931
|
0.00001
|
NM_004415.4(DSP):c.2933T>A (p.Ile978Lys)
|
rs1060500615
|
0.00001
|
NM_004415.4(DSP):c.2959T>A (p.Ser987Thr)
|
rs397516929
|
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.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.3084G>A (p.Lys1028=)
|
rs964949139
|
0.00001
|
NM_004415.4(DSP):c.3141C>T (p.Ala1047=)
|
rs1421186832
|
0.00001
|
NM_004415.4(DSP):c.314G>A (p.Arg105Gln)
|
rs762238621
|
0.00001
|
NM_004415.4(DSP):c.3277G>A (p.Ala1093Thr)
|
rs1185986064
|
0.00001
|
NM_004415.4(DSP):c.327G>A (p.Glu109=)
|
rs750816128
|
0.00001
|
NM_004415.4(DSP):c.3323A>G (p.Asn1108Ser)
|
rs771948271
|
0.00001
|
NM_004415.4(DSP):c.3343A>G (p.Thr1115Ala)
|
rs761524542
|
0.00001
|
NM_004415.4(DSP):c.3396T>C (p.Phe1132=)
|
rs41302881
|
0.00001
|
NM_004415.4(DSP):c.340G>A (p.Ala114Thr)
|
rs751745906
|
0.00001
|
NM_004415.4(DSP):c.3471A>G (p.Lys1157=)
|
rs371743739
|
0.00001
|
NM_004415.4(DSP):c.3540A>G (p.Glu1180=)
|
rs555514197
|
0.00001
|
NM_004415.4(DSP):c.3546C>T (p.Gly1182=)
|
rs1355395147
|
0.00001
|
NM_004415.4(DSP):c.3550C>T (p.Arg1184Trp)
|
rs761331634
|
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.364G>A (p.Asp122Asn)
|
rs756013600
|
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.3805C>T (p.Arg1269Ter)
|
rs767643821
|
0.00001
|
NM_004415.4(DSP):c.3820G>A (p.Ala1274Thr)
|
rs1285435504
|
0.00001
|
NM_004415.4(DSP):c.385C>T (p.Arg129Trp)
|
rs777763456
|
0.00001
|
NM_004415.4(DSP):c.3864G>A (p.Lys1288=)
|
rs768166626
|
0.00001
|
NM_004415.4(DSP):c.3865C>T (p.Gln1289Ter)
|
rs778178956
|
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.3968A>G (p.Lys1323Arg)
|
rs971198843
|
0.00001
|
NM_004415.4(DSP):c.3973A>C (p.Lys1325Gln)
|
rs41302883
|
0.00001
|
NM_004415.4(DSP):c.4021C>T (p.Arg1341Cys)
|
rs547568275
|
0.00001
|
NM_004415.4(DSP):c.4061A>G (p.Asn1354Ser)
|
rs746333083
|
0.00001
|
NM_004415.4(DSP):c.4103C>T (p.Thr1368Ile)
|
rs530481219
|
0.00001
|
NM_004415.4(DSP):c.4173C>T (p.Tyr1391=)
|
rs75537269
|
0.00001
|
NM_004415.4(DSP):c.4274G>A (p.Arg1425Lys)
|
rs577560157
|
0.00001
|
NM_004415.4(DSP):c.4305_4309del (p.Thr1436fs)
|
rs1554108287
|
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.4405C>T (p.Leu1469Phe)
|
rs752121953
|
0.00001
|
NM_004415.4(DSP):c.4433A>G (p.Asp1478Gly)
|
rs767339003
|
0.00001
|
NM_004415.4(DSP):c.4513G>A (p.Ala1505Thr)
|
rs1488770025
|
0.00001
|
NM_004415.4(DSP):c.4518del (p.Arg1506fs)
|
rs1289037294
|
0.00001
|
NM_004415.4(DSP):c.4526G>A (p.Arg1509Lys)
|
rs577061462
|
0.00001
|
NM_004415.4(DSP):c.4531C>T (p.Gln1511Ter)
|
rs397516940
|
0.00001
|
NM_004415.4(DSP):c.4563G>A (p.Ala1521=)
|
rs774258993
|
0.00001
|
NM_004415.4(DSP):c.4566G>A (p.Thr1522=)
|
rs1159243386
|
0.00001
|
NM_004415.4(DSP):c.4620C>T (p.Ile1540=)
|
rs1385558717
|
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.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.4836C>T (p.Ile1612=)
|
rs886039056
|
0.00001
|
NM_004415.4(DSP):c.4961T>C (p.Leu1654Pro)
|
rs749730642
|
0.00001
|
NM_004415.4(DSP):c.4983C>T (p.Val1661=)
|
rs755233649
|
0.00001
|
NM_004415.4(DSP):c.498C>T (p.Ser166=)
|
rs372869942
|
0.00001
|
NM_004415.4(DSP):c.5062G>A (p.Ala1688Thr)
|
rs757753880
|
0.00001
|
NM_004415.4(DSP):c.5091T>C (p.Asn1697=)
|
rs780353871
|
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.5151C>T (p.His1717=)
|
rs762841263
|
0.00001
|
NM_004415.4(DSP):c.5153T>C (p.Leu1718Ser)
|
rs1278859783
|
0.00001
|
NM_004415.4(DSP):c.5217C>T (p.Ser1739=)
|
rs748263306
|
0.00001
|
NM_004415.4(DSP):c.5261G>A (p.Ser1754Asn)
|
rs763526083
|
0.00001
|
NM_004415.4(DSP):c.5283C>T (p.Asn1761=)
|
rs763355815
|
0.00001
|
NM_004415.4(DSP):c.5313T>C (p.Asn1771=)
|
rs757107485
|
0.00001
|
NM_004415.4(DSP):c.5396A>G (p.Gln1799Arg)
|
rs987386495
|
0.00001
|
NM_004415.4(DSP):c.5550A>G (p.Lys1850=)
|
rs1759482564
|
0.00001
|
NM_004415.4(DSP):c.5572C>G (p.Gln1858Glu)
|
rs1474132784
|
0.00001
|
NM_004415.4(DSP):c.5593A>T (p.Asn1865Tyr)
|
rs562015789
|
0.00001
|
NM_004415.4(DSP):c.5611T>G (p.Tyr1871Asp)
|
rs374844169
|
0.00001
|
NM_004415.4(DSP):c.5618G>A (p.Arg1873His)
|
rs776088292
|
0.00001
|
NM_004415.4(DSP):c.5631T>C (p.Ala1877=)
|
rs1231651139
|
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.5656G>C (p.Glu1886Gln)
|
rs776728790
|
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.582G>T (p.Trp194Cys)
|
rs1345570966
|
0.00001
|
NM_004415.4(DSP):c.5834G>A (p.Arg1945His)
|
rs759516161
|
0.00001
|
NM_004415.4(DSP):c.5880C>T (p.Thr1960=)
|
rs375883982
|
0.00001
|
NM_004415.4(DSP):c.5881G>A (p.Val1961Ile)
|
rs368869076
|
0.00001
|
NM_004415.4(DSP):c.5912T>C (p.Leu1971Pro)
|
rs397516950
|
0.00001
|
NM_004415.4(DSP):c.5958C>T (p.Ile1986=)
|
rs577625038
|
0.00001
|
NM_004415.4(DSP):c.5959G>A (p.Asp1987Asn)
|
rs759443302
|
0.00001
|
NM_004415.4(DSP):c.598-5C>T
|
rs765653540
|
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.6014C>T (p.Ala2005Val)
|
rs749925817
|
0.00001
|
NM_004415.4(DSP):c.6038G>A (p.Arg2013Gln)
|
rs557263443
|
0.00001
|
NM_004415.4(DSP):c.6112A>C (p.Lys2038Gln)
|
rs185846631
|
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.6332T>C (p.Ile2111Thr)
|
rs370865499
|
0.00001
|
NM_004415.4(DSP):c.6346A>G (p.Ile2116Val)
|
rs777184414
|
0.00001
|
NM_004415.4(DSP):c.6367C>T (p.Arg2123Cys)
|
rs372242085
|
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.6549C>T (p.Tyr2183=)
|
rs771461040
|
0.00001
|
NM_004415.4(DSP):c.6550G>A (p.Val2184Met)
|
rs774832931
|
0.00001
|
NM_004415.4(DSP):c.6585T>C (p.His2195=)
|
rs1759541694
|
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.6689C>T (p.Pro2230Leu)
|
rs759982048
|
0.00001
|
NM_004415.4(DSP):c.6699C>T (p.Val2233=)
|
rs767835744
|
0.00001
|
NM_004415.4(DSP):c.677A>G (p.Asn226Ser)
|
rs921332894
|
0.00001
|
NM_004415.4(DSP):c.6812A>C (p.Lys2271Thr)
|
rs730880089
|
0.00001
|
NM_004415.4(DSP):c.6902T>C (p.Ile2301Thr)
|
rs772381363
|
0.00001
|
NM_004415.4(DSP):c.6927G>A (p.Arg2309=)
|
rs747248981
|
0.00001
|
NM_004415.4(DSP):c.692A>G (p.Tyr231Cys)
|
rs770210088
|
0.00001
|
NM_004415.4(DSP):c.6968T>C (p.Ile2323Thr)
|
rs777901747
|
0.00001
|
NM_004415.4(DSP):c.7068G>A (p.Lys2356=)
|
rs762892811
|
0.00001
|
NM_004415.4(DSP):c.7083G>A (p.Lys2361=)
|
rs1273820779
|
0.00001
|
NM_004415.4(DSP):c.7089C>T (p.His2363=)
|
rs1001343270
|
0.00001
|
NM_004415.4(DSP):c.720C>T (p.Ala240=)
|
rs1324798719
|
0.00001
|
NM_004415.4(DSP):c.7215C>T (p.Leu2405=)
|
rs191226040
|
0.00001
|
NM_004415.4(DSP):c.7396G>A (p.Val2466Met)
|
rs745862520
|
0.00001
|
NM_004415.4(DSP):c.7413A>G (p.Pro2471=)
|
rs772161814
|
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.7465G>A (p.Asp2489Asn)
|
rs760552749
|
0.00001
|
NM_004415.4(DSP):c.7527G>A (p.Thr2509=)
|
rs1405309527
|
0.00001
|
NM_004415.4(DSP):c.7530A>G (p.Gly2510=)
|
rs1364525049
|
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.7641C>G (p.Tyr2547Ter)
|
rs1464253797
|
0.00001
|
NM_004415.4(DSP):c.7644A>T (p.Arg2548=)
|
rs886039159
|
0.00001
|
NM_004415.4(DSP):c.7650C>T (p.Gly2550=)
|
rs780277298
|
0.00001
|
NM_004415.4(DSP):c.7701C>T (p.Val2567=)
|
rs772907439
|
0.00001
|
NM_004415.4(DSP):c.7702G>A (p.Gly2568Ser)
|
rs139486943
|
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.7847C>T (p.Ser2616Leu)
|
rs571577908
|
0.00001
|
NM_004415.4(DSP):c.7855A>G (p.Ile2619Val)
|
rs767630308
|
0.00001
|
NM_004415.4(DSP):c.7876G>C (p.Glu2626Gln)
|
rs144821643
|
0.00001
|
NM_004415.4(DSP):c.7918G>T (p.Gly2640Cys)
|
rs770390645
|
0.00001
|
NM_004415.4(DSP):c.7923C>T (p.Ile2641=)
|
rs773906008
|
0.00001
|
NM_004415.4(DSP):c.794G>A (p.Arg265Lys)
|
rs1064796438
|
0.00001
|
NM_004415.4(DSP):c.7990A>G (p.Thr2664Ala)
|
rs1260154229
|
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.8050A>G (p.Met2684Val)
|
rs147801650
|
0.00001
|
NM_004415.4(DSP):c.8087T>C (p.Ile2696Thr)
|
rs1415854040
|
0.00001
|
NM_004415.4(DSP):c.809G>A (p.Arg270Gln)
|
rs1203795810
|
0.00001
|
NM_004415.4(DSP):c.8123C>T (p.Ser2708Leu)
|
rs1194266904
|
0.00001
|
NM_004415.4(DSP):c.8133G>T (p.Glu2711Asp)
|
rs375348086
|
0.00001
|
NM_004415.4(DSP):c.8136A>T (p.Ala2712=)
|
rs1759620884
|
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.8169C>T (p.Gly2723=)
|
rs1259495339
|
0.00001
|
NM_004415.4(DSP):c.8191T>C (p.Tyr2731His)
|
rs201397978
|
0.00001
|
NM_004415.4(DSP):c.8197A>T (p.Thr2733Ser)
|
rs1157650702
|
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.8277C>T (p.Arg2759=)
|
rs1248664648
|
0.00001
|
NM_004415.4(DSP):c.8278G>A (p.Ala2760Thr)
|
rs991726607
|
0.00001
|
NM_004415.4(DSP):c.8309A>G (p.Tyr2770Cys)
|
rs371020228
|
0.00001
|
NM_004415.4(DSP):c.8330C>A (p.Pro2777His)
|
rs376273136
|
0.00001
|
NM_004415.4(DSP):c.8372G>A (p.Arg2791His)
|
rs749339594
|
0.00001
|
NM_004415.4(DSP):c.8390T>C (p.Ile2797Thr)
|
rs769734918
|
0.00001
|
NM_004415.4(DSP):c.8404C>T (p.Leu2802Phe)
|
rs201271117
|
0.00001
|
NM_004415.4(DSP):c.8476C>T (p.Arg2826Cys)
|
rs139969658
|
0.00001
|
NM_004415.4(DSP):c.8477G>A (p.Arg2826His)
|
rs548754771
|
0.00001
|
NM_004415.4(DSP):c.8508A>G (p.Gly2836=)
|
rs754074127
|
0.00001
|
NM_004415.4(DSP):c.8511T>C (p.Ser2837=)
|
rs757475874
|
0.00001
|
NM_004415.4(DSP):c.8529T>C (p.Ser2843=)
|
rs780005300
|
0.00001
|
NM_004415.4(DSP):c.8539A>C (p.Arg2847=)
|
rs113629968
|
0.00001
|
NM_004415.4(DSP):c.8580T>C (p.Tyr2860=)
|
rs201441128
|
0.00001
|
NM_004415.4(DSP):c.939+1G>A
|
rs727504443
|
0.00001
|
NM_004415.4(DSP):c.946A>G (p.Met316Val)
|
rs201672777
|
0.00001
|
NM_004415.4(DSP):c.965A>G (p.Lys322Arg)
|
rs757098196
|
0.00001
|
NM_004415.4(DSP):c.9C>T (p.Cys3=)
|
rs769032973
|
0.00001
|
NM_004415.2(DSP):c.5671_*835+957del4738insAGAACAGTCTT
|
|
|
NM_004415.2:c.3564_3565insALU
|
|
|
NM_004415.2:c.6060_6061insALU
|
|
|
NM_004415.3(DSP):c.8487_8498del12
|
rs727504704
|
|
NM_004415.4(DSP):c.-2_-1delinsGCA
|
|
|
NM_004415.4(DSP):c.1047C>T (p.Ala349=)
|
rs1758892420
|
|
NM_004415.4(DSP):c.1049A>C (p.Tyr350Ser)
|
|
|
NM_004415.4(DSP):c.1060_1061del (p.Leu354fs)
|
rs1249913357
|
|
NM_004415.4(DSP):c.1061T>C (p.Leu354Pro)
|
|
|
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.1087C>T (p.Gln363Ter)
|
rs778856526
|
|
NM_004415.4(DSP):c.1090A>G (p.Ile364Val)
|
rs886038909
|
|
NM_004415.4(DSP):c.109A>G (p.Thr37Ala)
|
|
|
NM_004415.4(DSP):c.1102A>G (p.Ile368Val)
|
rs794728112
|
|
NM_004415.4(DSP):c.1135T>A (p.Phe379Ile)
|
rs757853478
|
|
NM_004415.4(DSP):c.1161T>A (p.Ser387=)
|
rs1758909456
|
|
NM_004415.4(DSP):c.1162del (p.Thr388fs)
|
rs1554106742
|
|
NM_004415.4(DSP):c.1180G>A (p.Gly394Arg)
|
rs769054351
|
|
NM_004415.4(DSP):c.1183C>T (p.Leu395Phe)
|
|
|
NM_004415.4(DSP):c.1188G>T (p.Gln396His)
|
|
|
NM_004415.4(DSP):c.1201A>G (p.Lys401Glu)
|
|
|
NM_004415.4(DSP):c.1222A>G (p.Asn408Asp)
|
rs142129767
|
|
NM_004415.4(DSP):c.1228_1229insT (p.Pro410fs)
|
|
|
NM_004415.4(DSP):c.1232dup (p.Gln412fs)
|
|
|
NM_004415.4(DSP):c.123C>G (p.Tyr41Ter)
|
rs1057523045
|
|
NM_004415.4(DSP):c.1266+4delinsATA
|
|
|
NM_004415.4(DSP):c.1267-2A>G
|
rs1554106830
|
|
NM_004415.4(DSP):c.1273C>T (p.Arg425Ter)
|
rs397516915
|
|
NM_004415.4(DSP):c.1282dup (p.Ile428fs)
|
rs1561687796
|
|
NM_004415.4(DSP):c.1287T>A (p.Leu429=)
|
|
|
NM_004415.4(DSP):c.12C>G (p.Asn4Lys)
|
rs368802003
|
|
NM_004415.4(DSP):c.12C>T (p.Asn4=)
|
rs368802003
|
|
NM_004415.4(DSP):c.132G>A (p.Arg44=)
|
rs1204569556
|
|
NM_004415.4(DSP):c.1331A>C (p.Lys444Thr)
|
rs1554106843
|
|
NM_004415.4(DSP):c.1335T>G (p.Ile445Met)
|
rs898213877
|
|
NM_004415.4(DSP):c.1351C>A (p.Arg451Ser)
|
|
|
NM_004415.4(DSP):c.1356C>T (p.Asn452=)
|
rs1187261274
|
|
NM_004415.4(DSP):c.137G>C (p.Gly46Ala)
|
|
|
NM_004415.4(DSP):c.1380C>T (p.Pro460=)
|
rs1451086273
|
|
NM_004415.4(DSP):c.1419G>A (p.Gln473=)
|
|
|
NM_004415.4(DSP):c.1431T>C (p.His477=)
|
rs1554106904
|
|
NM_004415.4(DSP):c.1435G>C (p.Gly479Arg)
|
rs1288305110
|
|
NM_004415.4(DSP):c.1438G>T (p.Asp480Tyr)
|
|
|
NM_004415.4(DSP):c.1449C>T (p.Ile483=)
|
|
|
NM_004415.4(DSP):c.1464C>T (p.Asn488=)
|
rs768526275
|
|
NM_004415.4(DSP):c.1483_1485delinsTTT (p.Val495Phe)
|
rs1064795582
|
|
NM_004415.4(DSP):c.1492C>G (p.Pro498Ala)
|
rs1581803474
|
|
NM_004415.4(DSP):c.1500C>T (p.Gly500=)
|
rs762086998
|
|
NM_004415.4(DSP):c.1506C>T (p.Asp502=)
|
|
|
NM_004415.4(DSP):c.1507A>G (p.Met503Val)
|
|
|
NM_004415.4(DSP):c.1513G>A (p.Val505Ile)
|
|
|
NM_004415.4(DSP):c.1527G>T (p.Gly509=)
|
rs397516917
|
|
NM_004415.4(DSP):c.1548C>G (p.Asn516Lys)
|
rs1407207091
|
|
NM_004415.4(DSP):c.1556C>T (p.Ala519Val)
|
rs1395532173
|
|
NM_004415.4(DSP):c.1561G>C (p.Asp521His)
|
|
|
NM_004415.4(DSP):c.1575-5C>T
|
|
|
NM_004415.4(DSP):c.157T>G (p.Ser53Ala)
|
rs397516918
|
|
NM_004415.4(DSP):c.1587del (p.Tyr530fs)
|
|
|
NM_004415.4(DSP):c.1593A>G (p.Glu531=)
|
|
|
NM_004415.4(DSP):c.159G>A (p.Ser53=)
|
|
|
NM_004415.4(DSP):c.1624A>G (p.Ile542Val)
|
rs2113677376
|
|
NM_004415.4(DSP):c.1665T>C (p.Ile555=)
|
|
|
NM_004415.4(DSP):c.1672G>C (p.Glu558Gln)
|
|
|
NM_004415.4(DSP):c.1679T>C (p.Ile560Thr)
|
|
|
NM_004415.4(DSP):c.167A>G (p.Tyr56Cys)
|
|
|
NM_004415.4(DSP):c.1698C>G (p.Ala566=)
|
|
|
NM_004415.4(DSP):c.170+2T>C
|
|
|
NM_004415.4(DSP):c.1707A>G (p.Lys569=)
|
rs1759045455
|
|
NM_004415.4(DSP):c.1736C>T (p.Thr579Met)
|
|
|
NM_004415.4(DSP):c.1739T>C (p.Ile580Thr)
|
|
|
NM_004415.4(DSP):c.1743C>A (p.Ala581=)
|
rs139095230
|
|
NM_004415.4(DSP):c.1751del (p.Glu584fs)
|
rs727505077
|
|
NM_004415.4(DSP):c.1762C>T (p.Gln588Ter)
|
rs1581805658
|
|
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.1806T>C (p.Asp602=)
|
rs560969680
|
|
NM_004415.4(DSP):c.1816C>G (p.Arg606Gly)
|
|
|
NM_004415.4(DSP):c.1819A>G (p.Lys607Glu)
|
|
|
NM_004415.4(DSP):c.1857C>A (p.Tyr619Ter)
|
rs1554107097
|
|
NM_004415.4(DSP):c.1859A>G (p.Gln620Arg)
|
|
|
NM_004415.4(DSP):c.1865T>G (p.Leu622Arg)
|
rs1554107098
|
|
NM_004415.4(DSP):c.1867G>A (p.Val623Ile)
|
|
|
NM_004415.4(DSP):c.1873C>T (p.Gln625Ter)
|
rs876657638
|
|
NM_004415.4(DSP):c.1895A>C (p.His632Pro)
|
|
|
NM_004415.4(DSP):c.1903+3C>T
|
rs754326012
|
|
NM_004415.4(DSP):c.1907C>A (p.Thr636Asn)
|
|
|
NM_004415.4(DSP):c.1908C>T (p.Thr636=)
|
|
|
NM_004415.4(DSP):c.1928A>G (p.His643Arg)
|
rs1759064128
|
|
NM_004415.4(DSP):c.192G>A (p.Arg64=)
|
rs908789038
|
|
NM_004415.4(DSP):c.1938C>A (p.Cys646Ter)
|
|
|
NM_004415.4(DSP):c.1938C>T (p.Cys646=)
|
rs1759064440
|
|
NM_004415.4(DSP):c.1954A>T (p.Asn652Tyr)
|
|
|
NM_004415.4(DSP):c.1963A>G (p.Ile655Val)
|
|
|
NM_004415.4(DSP):c.1993G>A (p.Glu665Lys)
|
rs2113679925
|
|
NM_004415.4(DSP):c.1997C>T (p.Thr666Ile)
|
rs200053977
|
|
NM_004415.4(DSP):c.1A>G (p.Met1Val)
|
rs1131691557
|
|
NM_004415.4(DSP):c.2012A>G (p.Glu671Gly)
|
rs758530970
|
|
NM_004415.4(DSP):c.2019G>A (p.Gln673=)
|
|
|
NM_004415.4(DSP):c.2043C>A (p.His681Gln)
|
|
|
NM_004415.4(DSP):c.2074C>G (p.Pro692Ala)
|
|
|
NM_004415.4(DSP):c.2075C>G (p.Pro692Arg)
|
|
|
NM_004415.4(DSP):c.2075C>T (p.Pro692Leu)
|
rs1561690890
|
|
NM_004415.4(DSP):c.2119A>G (p.Asn707Asp)
|
rs756272327
|
|
NM_004415.4(DSP):c.2159C>G (p.Ala720Gly)
|
rs1261146655
|
|
NM_004415.4(DSP):c.2164G>T (p.Val722Phe)
|
rs1581808686
|
|
NM_004415.4(DSP):c.2168T>C (p.Leu723Pro)
|
rs1554107443
|
|
NM_004415.4(DSP):c.2171A>C (p.Asn724Thr)
|
|
|
NM_004415.4(DSP):c.2184T>C (p.Asp728=)
|
rs750383681
|
|
NM_004415.4(DSP):c.2196C>T (p.Asn732=)
|
|
|
NM_004415.4(DSP):c.2201G>A (p.Arg734Lys)
|
rs1561692443
|
|
NM_004415.4(DSP):c.2203G>A (p.Gly735Ser)
|
|
|
NM_004415.4(DSP):c.2204G>T (p.Gly735Val)
|
rs1759154089
|
|
NM_004415.4(DSP):c.2206T>G (p.Ser736Ala)
|
|
|
NM_004415.4(DSP):c.2234A>C (p.Glu745Ala)
|
rs969462343
|
|
NM_004415.4(DSP):c.2247A>C (p.Leu749=)
|
rs28763963
|
|
NM_004415.4(DSP):c.2279C>T (p.Thr760Ile)
|
|
|
NM_004415.4(DSP):c.2313G>T (p.Arg771Ser)
|
|
|
NM_004415.4(DSP):c.2326G>A (p.Ala776Thr)
|
rs1759178969
|
|
NM_004415.4(DSP):c.2344G>T (p.Asp782Tyr)
|
rs2113684062
|
|
NM_004415.4(DSP):c.2351T>A (p.Leu784Ter)
|
rs2113684096
|
|
NM_004415.4(DSP):c.2356G>A (p.Val786Ile)
|
|
|
NM_004415.4(DSP):c.2361T>C (p.Tyr787=)
|
|
|
NM_004415.4(DSP):c.2369G>A (p.Arg790Lys)
|
|
|
NM_004415.4(DSP):c.238G>C (p.Asp80His)
|
|
|
NM_004415.4(DSP):c.2437-1G>C
|
rs1057517903
|
|
NM_004415.4(DSP):c.243C>T (p.Cys81=)
|
rs947998304
|
|
NM_004415.4(DSP):c.2470TTG[1] (p.Leu825del)
|
|
|
NM_004415.4(DSP):c.250C>T (p.Arg84Ter)
|
rs768521444
|
|
NM_004415.4(DSP):c.250_273+1del
|
|
|
NM_004415.4(DSP):c.2531A>G (p.Gln844Arg)
|
|
|
NM_004415.4(DSP):c.2547T>A (p.Tyr849Ter)
|
rs1554107624
|
|
NM_004415.4(DSP):c.2552T>C (p.Leu851Pro)
|
|
|
NM_004415.4(DSP):c.255A>T (p.Ala85=)
|
|
|
NM_004415.4(DSP):c.2575A>G (p.Lys859Glu)
|
rs1759209975
|
|
NM_004415.4(DSP):c.2593_2594dup (p.Asp865fs)
|
|
|
NM_004415.4(DSP):c.2608A>T (p.Ile870Leu)
|
rs1561693971
|
|
NM_004415.4(DSP):c.2616dup (p.Gln873fs)
|
|
|
NM_004415.4(DSP):c.262A>G (p.Ile88Val)
|
rs1581791030
|
|
NM_004415.4(DSP):c.262A>T (p.Ile88Phe)
|
|
|
NM_004415.4(DSP):c.2637G>A (p.Trp879Ter)
|
rs2113686447
|
|
NM_004415.4(DSP):c.2652_2653del (p.Gln884fs)
|
|
|
NM_004415.4(DSP):c.2688G>A (p.Gln896=)
|
|
|
NM_004415.4(DSP):c.2691T>G (p.Ala897=)
|
|
|
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.2706_2707del (p.Leu902_Tyr903insTer)
|
rs1759240256
|
|
NM_004415.4(DSP):c.2709T>A (p.Tyr903Ter)
|
|
|
NM_004415.4(DSP):c.2723G>T (p.Arg908Leu)
|
rs142494121
|
|
NM_004415.4(DSP):c.2747A>C (p.Lys916Thr)
|
rs1554107730
|
|
NM_004415.4(DSP):c.274G>A (p.Glu92Lys)
|
|
|
NM_004415.4(DSP):c.2765C>T (p.Thr922Ile)
|
rs755099716
|
|
NM_004415.4(DSP):c.277T>C (p.Leu93=)
|
rs1561680562
|
|
NM_004415.4(DSP):c.2780dup (p.Leu927fs)
|
|
|
NM_004415.4(DSP):c.2799G>A (p.Leu933=)
|
|
|
NM_004415.4(DSP):c.279G>C (p.Leu93Phe)
|
rs1447901875
|
|
NM_004415.4(DSP):c.2821C>T (p.Arg941Ter)
|
rs730880082
|
|
NM_004415.4(DSP):c.2829A>C (p.Lys943Asn)
|
|
|
NM_004415.4(DSP):c.2842C>G (p.Gln948Glu)
|
|
|
NM_004415.4(DSP):c.2842del (p.Gln948fs)
|
|
|
NM_004415.4(DSP):c.2876A>C (p.Lys959Thr)
|
|
|
NM_004415.4(DSP):c.2878-3C>T
|
rs1581813359
|
|
NM_004415.4(DSP):c.2896G>C (p.Ala966Pro)
|
|
|
NM_004415.4(DSP):c.2897C>T (p.Ala966Val)
|
|
|
NM_004415.4(DSP):c.2904C>T (p.Tyr968=)
|
rs1241595798
|
|
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.2947A>C (p.Thr983Pro)
|
|
|
NM_004415.4(DSP):c.2950A>G (p.Met984Val)
|
rs868110541
|
|
NM_004415.4(DSP):c.2951T>A (p.Met984Lys)
|
rs1452300736
|
|
NM_004415.4(DSP):c.2957A>C (p.Gln986Pro)
|
|
|
NM_004415.4(DSP):c.2958G>T (p.Gln986His)
|
rs786205415
|
|
NM_004415.4(DSP):c.2980dup (p.Gln994fs)
|
rs1581813564
|
|
NM_004415.4(DSP):c.3005G>A (p.Arg1002Gln)
|
rs371234425
|
|
NM_004415.4(DSP):c.3023C>T (p.Thr1008Ile)
|
rs1334187363
|
|
NM_004415.4(DSP):c.3027A>T (p.Arg1009Ser)
|
|
|
NM_004415.4(DSP):c.302T>G (p.Leu101Arg)
|
|
|
NM_004415.4(DSP):c.3048C>T (p.Phe1016=)
|
rs1299556752
|
|
NM_004415.4(DSP):c.3070T>G (p.Leu1024Val)
|
rs1474315262
|
|
NM_004415.4(DSP):c.3071T>G (p.Leu1024Trp)
|
|
|
NM_004415.4(DSP):c.307C>T (p.Arg103Trp)
|
rs375028675
|
|
NM_004415.4(DSP):c.3119A>G (p.Glu1040Gly)
|
rs727505147
|
|
NM_004415.4(DSP):c.3126_3127delinsT (p.Arg1042fs)
|
rs1561696970
|
|
NM_004415.4(DSP):c.3133C>T (p.Arg1045Ter)
|
rs1554108012
|
|
NM_004415.4(DSP):c.313C>T (p.Arg105Ter)
|
rs1435125402
|
|
NM_004415.4(DSP):c.3162G>A (p.Lys1054=)
|
|
|
NM_004415.4(DSP):c.3167A>G (p.Lys1056Arg)
|
|
|
NM_004415.4(DSP):c.3172C>G (p.Leu1058Val)
|
|
|
NM_004415.4(DSP):c.3195C>G (p.Tyr1065Ter)
|
rs886039178
|
|
NM_004415.4(DSP):c.3231G>C (p.Ala1077=)
|
|
|
NM_004415.4(DSP):c.3259G>A (p.Glu1087Lys)
|
rs1561697118
|
|
NM_004415.4(DSP):c.3261G>A (p.Glu1087=)
|
rs1045685133
|
|
NM_004415.4(DSP):c.3262C>T (p.Leu1088=)
|
|
|
NM_004415.4(DSP):c.3276G>C (p.Ser1092=)
|
rs202057409
|
|
NM_004415.4(DSP):c.3304G>C (p.Gly1102Arg)
|
|
|
NM_004415.4(DSP):c.3311T>C (p.Ile1104Thr)
|
|
|
NM_004415.4(DSP):c.3325G>A (p.Glu1109Lys)
|
rs367763339
|
|
NM_004415.4(DSP):c.3329A>C (p.Lys1110Thr)
|
|
|
NM_004415.4(DSP):c.3337C>T (p.Arg1113Ter)
|
rs746877365
|
|
NM_004415.4(DSP):c.3339A>T (p.Arg1113=)
|
|
|
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.3373A>G (p.Arg1125Gly)
|
|
|
NM_004415.4(DSP):c.3393A>G (p.Arg1131=)
|
|
|
NM_004415.4(DSP):c.3402A>G (p.Gln1134=)
|
|
|
NM_004415.4(DSP):c.3439C>A (p.Gln1147Lys)
|
|
|
NM_004415.4(DSP):c.343A>C (p.Asn115His)
|
|
|
NM_004415.4(DSP):c.3473T>G (p.Leu1158Ter)
|
|
|
NM_004415.4(DSP):c.3474dup (p.Glu1159fs)
|
rs727503000
|
|
NM_004415.4(DSP):c.3490A>C (p.Ile1164Leu)
|
|
|
NM_004415.4(DSP):c.3499_3501del (p.Lys1167del)
|
rs1554108091
|
|
NM_004415.4(DSP):c.3513T>G (p.Ile1171Met)
|
|
|
NM_004415.4(DSP):c.3517del (p.Arg1173fs)
|
|
|
NM_004415.4(DSP):c.3519G>A (p.Arg1173=)
|
|
|
NM_004415.4(DSP):c.3526del (p.Val1176fs)
|
rs727505271
|
|
NM_004415.4(DSP):c.3535C>T (p.Gln1179Ter)
|
rs1759357763
|
|
NM_004415.4(DSP):c.3548C>T (p.Thr1183Ile)
|
|
|
NM_004415.4(DSP):c.35A>G (p.Asn12Ser)
|
rs1239489755
|
|
NM_004415.4(DSP):c.3606G>A (p.Glu1202=)
|
|
|
NM_004415.4(DSP):c.3607A>T (p.Met1203Leu)
|
|
|
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.3612del (p.Ser1204fs)
|
|
|
NM_004415.4(DSP):c.3622A>G (p.Asn1208Asp)
|
|
|
NM_004415.4(DSP):c.3630T>A (p.Tyr1210Ter)
|
rs727503001
|
|
NM_004415.4(DSP):c.3636A>G (p.Thr1212=)
|
|
|
NM_004415.4(DSP):c.3684del (p.Glu1229fs)
|
|
|
NM_004415.4(DSP):c.3696C>G (p.Ser1232=)
|
rs141120358
|
|
NM_004415.4(DSP):c.3735_3741dup (p.Asp1248fs)
|
rs1554108152
|
|
NM_004415.4(DSP):c.3743A>C (p.Asp1248Ala)
|
rs1276847644
|
|
NM_004415.4(DSP):c.375C>G (p.Ile125Met)
|
|
|
NM_004415.4(DSP):c.3764G>A (p.Arg1255Lys)
|
rs777407386
|
|
NM_004415.4(DSP):c.3784C>T (p.Gln1262Ter)
|
rs2113692628
|
|
NM_004415.4(DSP):c.3796C>G (p.Gln1266Glu)
|
|
|
NM_004415.4(DSP):c.3799C>G (p.Arg1267Gly)
|
|
|
NM_004415.4(DSP):c.3799C>T (p.Arg1267Ter)
|
rs121912997
|
|
NM_004415.4(DSP):c.3806G>A (p.Arg1269Gln)
|
rs876657795
|
|
NM_004415.4(DSP):c.3835G>T (p.Ala1279Ser)
|
rs763915365
|
|
NM_004415.4(DSP):c.3845C>T (p.Ser1282Phe)
|
rs778780656
|
|
NM_004415.4(DSP):c.3850del (p.Glu1283_Ile1284insTer)
|
|
|
NM_004415.4(DSP):c.3864G>T (p.Lys1288Asn)
|
rs768166626
|
|
NM_004415.4(DSP):c.3870T>C (p.His1290=)
|
|
|
NM_004415.4(DSP):c.3909_3921del (p.Glu1304fs)
|
|
|
NM_004415.4(DSP):c.3919G>T (p.Ala1307Ser)
|
|
|
NM_004415.4(DSP):c.3931C>T (p.Gln1311Ter)
|
|
|
NM_004415.4(DSP):c.3941A>G (p.Glu1314Gly)
|
|
|
NM_004415.4(DSP):c.3947C>G (p.Ala1316Gly)
|
|
|
NM_004415.4(DSP):c.3956C>T (p.Thr1319Ile)
|
rs138599871
|
|
NM_004415.4(DSP):c.397C>G (p.Gln133Glu)
|
|
|
NM_004415.4(DSP):c.3981C>A (p.Ile1327=)
|
rs397516934
|
|
NM_004415.4(DSP):c.3982G>A (p.Glu1328Lys)
|
rs746208168
|
|
NM_004415.4(DSP):c.4009del (p.Glu1337fs)
|
rs794727381
|
|
NM_004415.4(DSP):c.4016A>T (p.Lys1339Met)
|
|
|
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.4028A>C (p.Glu1343Ala)
|
|
|
NM_004415.4(DSP):c.402C>T (p.Pro134=)
|
rs373685989
|
|
NM_004415.4(DSP):c.4093C>A (p.Gln1365Lys)
|
|
|
NM_004415.4(DSP):c.4098T>G (p.Phe1366Leu)
|
|
|
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.4153_4156del (p.Glu1385fs)
|
rs1759385935
|
|
NM_004415.4(DSP):c.4172A>C (p.Tyr1391Ser)
|
rs727504547
|
|
NM_004415.4(DSP):c.418A>G (p.Lys140Glu)
|
|
|
NM_004415.4(DSP):c.4196C>T (p.Thr1399Ile)
|
|
|
NM_004415.4(DSP):c.4198C>T (p.Arg1400Ter)
|
rs770873593
|
|
NM_004415.4(DSP):c.4199G>T (p.Arg1400Leu)
|
|
|
NM_004415.4(DSP):c.4202A>T (p.Glu1401Val)
|
rs1759389046
|
|
NM_004415.4(DSP):c.4209G>A (p.Arg1403=)
|
rs1561698567
|
|
NM_004415.4(DSP):c.423-1G>T
|
rs1304410089
|
|
NM_004415.4(DSP):c.4235_4237delinsG (p.Leu1412fs)
|
rs1554108280
|
|
NM_004415.4(DSP):c.4236G>A (p.Leu1412=)
|
|
|
NM_004415.4(DSP):c.4244C>T (p.Thr1415Ile)
|
|
|
NM_004415.4(DSP):c.4251C>A (p.Thr1417=)
|
|
|
NM_004415.4(DSP):c.4261G>A (p.Glu1421Lys)
|
rs769965019
|
|
NM_004415.4(DSP):c.4311C>T (p.Gly1437=)
|
rs781353867
|
|
NM_004415.4(DSP):c.4332A>C (p.Lys1444Asn)
|
rs1374798133
|
|
NM_004415.4(DSP):c.4352T>C (p.Leu1451Pro)
|
rs1554108296
|
|
NM_004415.4(DSP):c.4353_4357del (p.Arg1452fs)
|
rs886039009
|
|
NM_004415.4(DSP):c.4364C>T (p.Thr1455Ile)
|
|
|
NM_004415.4(DSP):c.4372C>T (p.Arg1458Ter)
|
rs28763965
|
|
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.43G>A (p.Gly15Ser)
|
|
|
NM_004415.4(DSP):c.4412A>C (p.Asp1471Ala)
|
|
|
NM_004415.4(DSP):c.441G>A (p.Glu147=)
|
|
|
NM_004415.4(DSP):c.4421A>G (p.Lys1474Arg)
|
rs756456881
|
|
NM_004415.4(DSP):c.4423del (p.Thr1475fs)
|
rs1227662860
|
|
NM_004415.4(DSP):c.4472A>G (p.Asp1491Gly)
|
rs397516938
|
|
NM_004415.4(DSP):c.4487A>T (p.Asp1496Val)
|
|
|
NM_004415.4(DSP):c.448C>T (p.Arg150Ter)
|
rs2113659637
|
|
NM_004415.4(DSP):c.4509A>G (p.Glu1503=)
|
rs1350066172
|
|
NM_004415.4(DSP):c.4512C>T (p.Asn1504=)
|
rs140993677
|
|
NM_004415.4(DSP):c.4514C>G (p.Ala1505Gly)
|
|
|
NM_004415.4(DSP):c.4515G>A (p.Ala1505=)
|
rs193197554
|
|
NM_004415.4(DSP):c.4527_4559del (p.Arg1509_Ser1519del)
|
rs397516939
|
|
NM_004415.4(DSP):c.4558A>T (p.Ser1520Cys)
|
rs780953141
|
|
NM_004415.4(DSP):c.4571C>T (p.Thr1524Ile)
|
rs397516941
|
|
NM_004415.4(DSP):c.4578del (p.Asn1526fs)
|
|
|
NM_004415.4(DSP):c.4609C>A (p.Arg1537Ser)
|
|
|
NM_004415.4(DSP):c.4632G>T (p.Arg1544Ser)
|
|
|
NM_004415.4(DSP):c.4636T>C (p.Ser1546Pro)
|
rs1280704171
|
|
NM_004415.4(DSP):c.463G>A (p.Ala155Thr)
|
|
|
NM_004415.4(DSP):c.4648A>T (p.Thr1550Ser)
|
|
|
NM_004415.4(DSP):c.4672C>T (p.Arg1558Trp)
|
|
|
NM_004415.4(DSP):c.4679A>G (p.Gln1560Arg)
|
rs796530013
|
|
NM_004415.4(DSP):c.4686T>C (p.Ser1562=)
|
|
|
NM_004415.4(DSP):c.46C>T (p.Arg16Cys)
|
|
|
NM_004415.4(DSP):c.4713G>C (p.Gln1571His)
|
rs375381133
|
|
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.4769A>G (p.Lys1590Arg)
|
rs2113694864
|
|
NM_004415.4(DSP):c.4780C>G (p.Leu1594Val)
|
rs149463707
|
|
NM_004415.4(DSP):c.4789G>T (p.Glu1597Ter)
|
rs1259613160
|
|
NM_004415.4(DSP):c.478C>T (p.Arg160Ter)
|
rs397516943
|
|
NM_004415.4(DSP):c.47G>C (p.Arg16Pro)
|
rs752387234
|
|
NM_004415.4(DSP):c.4822C>T (p.Gln1608Ter)
|
rs1060500610
|
|
NM_004415.4(DSP):c.4837A>T (p.Thr1613Ser)
|
|
|
NM_004415.4(DSP):c.484C>G (p.Arg162Gly)
|
rs760711308
|
|
NM_004415.4(DSP):c.485G>A (p.Arg162His)
|
rs397516944
|
|
NM_004415.4(DSP):c.4865C>T (p.Ala1622Val)
|
|
|
NM_004415.4(DSP):c.4868C>G (p.Ser1623Cys)
|
rs908086952
|
|
NM_004415.4(DSP):c.4870A>G (p.Ile1624Val)
|
|
|
NM_004415.4(DSP):c.4881G>A (p.Lys1627=)
|
|
|
NM_004415.4(DSP):c.4882_4886delinsTTCT (p.Arg1628fs)
|
rs1554108410
|
|
NM_004415.4(DSP):c.4894G>A (p.Asp1632Asn)
|
rs747279731
|
|
NM_004415.4(DSP):c.4908G>C (p.Gln1636His)
|
|
|
NM_004415.4(DSP):c.4957G>A (p.Glu1653Lys)
|
|
|
NM_004415.4(DSP):c.4994G>C (p.Arg1665Thr)
|
rs1290867734
|
|
NM_004415.4(DSP):c.49A>G (p.Met17Val)
|
|
|
NM_004415.4(DSP):c.5020A>G (p.Ser1674Gly)
|
|
|
NM_004415.4(DSP):c.5028A>G (p.Lys1676=)
|
|
|
NM_004415.4(DSP):c.5057A>T (p.Gln1686Leu)
|
|
|
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.5095A>C (p.Ser1699Arg)
|
|
|
NM_004415.4(DSP):c.5108T>A (p.Ile1703Asn)
|
rs794728123
|
|
NM_004415.4(DSP):c.5115G>C (p.Arg1705Ser)
|
|
|
NM_004415.4(DSP):c.5123C>G (p.Ser1708Cys)
|
rs372452104
|
|
NM_004415.4(DSP):c.5135A>T (p.Asn1712Ile)
|
rs1759433132
|
|
NM_004415.4(DSP):c.5161GAA[2] (p.Glu1723del)
|
rs730880091
|
|
NM_004415.4(DSP):c.517A>C (p.Thr173Pro)
|
|
|
NM_004415.4(DSP):c.5191T>A (p.Tyr1731Asn)
|
|
|
NM_004415.4(DSP):c.5212C>T (p.Arg1738Ter)
|
rs794728124
|
|
NM_004415.4(DSP):c.5223G>C (p.Ala1741=)
|
rs201984474
|
|
NM_004415.4(DSP):c.5231A>G (p.Asp1744Gly)
|
|
|
NM_004415.4(DSP):c.5274C>G (p.Ile1758Met)
|
|
|
NM_004415.4(DSP):c.5286G>A (p.Arg1762=)
|
|
|
NM_004415.4(DSP):c.5291T>A (p.Leu1764Gln)
|
rs767885673
|
|
NM_004415.4(DSP):c.5304G>A (p.Gly1768=)
|
|
|
NM_004415.4(DSP):c.5305C>T (p.Leu1769=)
|
|
|
NM_004415.4(DSP):c.5310T>G (p.Ile1770Met)
|
|
|
NM_004415.4(DSP):c.531C>T (p.Gly177=)
|
|
|
NM_004415.4(DSP):c.5327_5330del (p.Glu1776fs)
|
rs1394836623
|
|
NM_004415.4(DSP):c.5329_5330del (p.Arg1777fs)
|
|
|
NM_004415.4(DSP):c.5351T>C (p.Ile1784Thr)
|
rs1554108491
|
|
NM_004415.4(DSP):c.5361C>T (p.Phe1787=)
|
|
|
NM_004415.4(DSP):c.5382A>G (p.Ala1794=)
|
|
|
NM_004415.4(DSP):c.5391G>A (p.Arg1797=)
|
rs778745098
|
|
NM_004415.4(DSP):c.5402_5424delinsTGA (p.Ser1801fs)
|
|
|
NM_004415.4(DSP):c.540G>C (p.Trp180Cys)
|
|
|
NM_004415.4(DSP):c.5439G>C (p.Glu1813Asp)
|
rs1759477469
|
|
NM_004415.4(DSP):c.5455del (p.Ile1819fs)
|
|
|
NM_004415.4(DSP):c.5488C>T (p.Gln1830Ter)
|
|
|
NM_004415.4(DSP):c.5499G>A (p.Glu1833=)
|
rs775969808
|
|
NM_004415.4(DSP):c.5512C>G (p.Arg1838Gly)
|
|
|
NM_004415.4(DSP):c.5527C>G (p.Leu1843Val)
|
|
|
NM_004415.4(DSP):c.5532G>A (p.Glu1844=)
|
rs2113698068
|
|
NM_004415.4(DSP):c.5542A>G (p.Arg1848Gly)
|
rs886038805
|
|
NM_004415.4(DSP):c.5553G>A (p.Gln1851=)
|
|
|
NM_004415.4(DSP):c.5562G>A (p.Glu1854=)
|
|
|
NM_004415.4(DSP):c.557_558del (p.His186fs)
|
|
|
NM_004415.4(DSP):c.5587G>A (p.Asp1863Asn)
|
|
|
NM_004415.4(DSP):c.5633T>C (p.Ile1878Thr)
|
rs1581820615
|
|
NM_004415.4(DSP):c.5649G>T (p.Ser1883=)
|
|
|
NM_004415.4(DSP):c.5657A>G (p.Glu1886Gly)
|
rs1759489572
|
|
NM_004415.4(DSP):c.5680_5683del (p.Ser1894fs)
|
rs774763657
|
|
NM_004415.4(DSP):c.5697C>G (p.Ile1899Met)
|
|
|
NM_004415.4(DSP):c.56G>A (p.Arg19His)
|
rs1757992558
|
|
NM_004415.4(DSP):c.5733G>A (p.Glu1911=)
|
|
|
NM_004415.4(DSP):c.5736G>A (p.Arg1912=)
|
rs371873840
|
|
NM_004415.4(DSP):c.5736G>T (p.Arg1912Ser)
|
rs371873840
|
|
NM_004415.4(DSP):c.5745dup (p.Lys1916Ter)
|
rs1060500607
|
|
NM_004415.4(DSP):c.5748G>A (p.Lys1916=)
|
|
|
NM_004415.4(DSP):c.5749C>G (p.Leu1917Val)
|
|
|
NM_004415.4(DSP):c.5757T>G (p.Asp1919Glu)
|
rs727504871
|
|
NM_004415.4(DSP):c.5764A>G (p.Arg1922Gly)
|
|
|
NM_004415.4(DSP):c.5773_5774del (p.Gln1925fs)
|
rs1561701401
|
|
NM_004415.4(DSP):c.5785G>A (p.Glu1929Lys)
|
|
|
NM_004415.4(DSP):c.5798C>G (p.Ser1933Cys)
|
|
|
NM_004415.4(DSP):c.5802A>G (p.Arg1934=)
|
|
|
NM_004415.4(DSP):c.5808G>A (p.Gln1936=)
|
|
|
NM_004415.4(DSP):c.5829_5832del (p.Arg1943fs)
|
|
|
NM_004415.4(DSP):c.5838A>G (p.Pro1946=)
|
|
|
NM_004415.4(DSP):c.5840A>G (p.Tyr1947Cys)
|
|
|
NM_004415.4(DSP):c.5859C>T (p.Thr1953=)
|
|
|
NM_004415.4(DSP):c.5987del (p.Lys1996fs)
|
rs1759510200
|
|
NM_004415.4(DSP):c.6002T>G (p.Val2001Gly)
|
|
|
NM_004415.4(DSP):c.603G>A (p.Glu201=)
|
rs770080985
|
|
NM_004415.4(DSP):c.6041G>A (p.Gly2014Asp)
|
|
|
NM_004415.4(DSP):c.6045A>G (p.Ala2015=)
|
|
|
NM_004415.4(DSP):c.604A>G (p.Met202Val)
|
|
|
NM_004415.4(DSP):c.6055G>T (p.Ala2019Ser)
|
rs771974957
|
|
NM_004415.4(DSP):c.6068C>G (p.Ala2023Gly)
|
|
|
NM_004415.4(DSP):c.6072T>C (p.Ser2024=)
|
|
|
NM_004415.4(DSP):c.6073C>T (p.Pro2025Ser)
|
rs1759514545
|
|
NM_004415.4(DSP):c.6091_6092del (p.Leu2031fs)
|
rs397514040
|
|
NM_004415.4(DSP):c.6092T>C (p.Leu2031Ser)
|
|
|
NM_004415.4(DSP):c.612G>C (p.Met204Ile)
|
rs1021314728
|
|
NM_004415.4(DSP):c.6148G>C (p.Glu2050Gln)
|
|
|
NM_004415.4(DSP):c.6170del (p.Gly2057fs)
|
|
|
NM_004415.4(DSP):c.6187C>T (p.Arg2063Trp)
|
rs374090050
|
|
NM_004415.4(DSP):c.6201G>A (p.Leu2067=)
|
|
|
NM_004415.4(DSP):c.6204T>C (p.Thr2068=)
|
|
|
NM_004415.4(DSP):c.6241G>T (p.Asp2081Tyr)
|
|
|
NM_004415.4(DSP):c.6253C>T (p.Gln2085Ter)
|
|
|
NM_004415.4(DSP):c.6258A>G (p.Ile2086Met)
|
|
|
NM_004415.4(DSP):c.6271A>G (p.Lys2091Glu)
|
|
|
NM_004415.4(DSP):c.6274G>A (p.Ala2092Thr)
|
|
|
NM_004415.4(DSP):c.627G>A (p.Val209=)
|
|
|
NM_004415.4(DSP):c.6284G>A (p.Gly2095Asp)
|
rs1554108784
|
|
NM_004415.4(DSP):c.6295_6296delinsAT (p.Pro2099Ile)
|
rs587782942
|
|
NM_004415.4(DSP):c.6318del (p.Val2107fs)
|
rs2113699991
|
|
NM_004415.4(DSP):c.6335A>G (p.Lys2112Arg)
|
|
|
NM_004415.4(DSP):c.6336del (p.Asn2114fs)
|
|
|
NM_004415.4(DSP):c.6349G>C (p.Asp2117His)
|
|
|
NM_004415.4(DSP):c.6367C>A (p.Arg2123Ser)
|
|
|
NM_004415.4(DSP):c.6369C>A (p.Arg2123=)
|
|
|
NM_004415.4(DSP):c.6370C>T (p.Leu2124=)
|
|
|
NM_004415.4(DSP):c.6378A>G (p.Glu2126=)
|
|
|
NM_004415.4(DSP):c.6386T>G (p.Ile2129Ser)
|
rs1401697610
|
|
NM_004415.4(DSP):c.6396G>A (p.Gly2132=)
|
|
|
NM_004415.4(DSP):c.6401T>C (p.Val2134Ala)
|
|
|
NM_004415.4(DSP):c.6402A>G (p.Val2134=)
|
|
|
NM_004415.4(DSP):c.6408C>T (p.Asp2136=)
|
rs771641035
|
|
NM_004415.4(DSP):c.6432A>T (p.Pro2144=)
|
rs773730187
|
|
NM_004415.4(DSP):c.6441C>T (p.Val2147=)
|
rs762513279
|
|
NM_004415.4(DSP):c.6449C>T (p.Ala2150Val)
|
|
|
NM_004415.4(DSP):c.6459G>A (p.Leu2153=)
|
|
|
NM_004415.4(DSP):c.6466dup (p.Arg2156fs)
|
rs1554108859
|
|
NM_004415.4(DSP):c.646dup (p.Gln216fs)
|
rs2113665124
|
|
NM_004415.4(DSP):c.6496C>T (p.Arg2166Ter)
|
rs141026028
|
|
NM_004415.4(DSP):c.6504_6507del (p.Ser2168fs)
|
rs1561702640
|
|
NM_004415.4(DSP):c.6516del (p.Phe2172fs)
|
|
|
NM_004415.4(DSP):c.6547T>C (p.Tyr2183His)
|
rs763549172
|
|
NM_004415.4(DSP):c.6553C>T (p.Gln2185Ter)
|
|
|
NM_004415.4(DSP):c.6564A>G (p.Glu2188=)
|
|
|
NM_004415.4(DSP):c.6572G>A (p.Arg2191Lys)
|
rs527888978
|
|
NM_004415.4(DSP):c.657C>T (p.Asn219=)
|
|
|
NM_004415.4(DSP):c.6580C>T (p.Pro2194Ser)
|
|
|
NM_004415.4(DSP):c.6583C>T (p.His2195Tyr)
|
|
|
NM_004415.4(DSP):c.6584A>G (p.His2195Arg)
|
|
|
NM_004415.4(DSP):c.6586A>G (p.Thr2196Ala)
|
rs2113700741
|
|
NM_004415.4(DSP):c.6631C>T (p.Gln2211Ter)
|
|
|
NM_004415.4(DSP):c.6657C>T (p.Val2219=)
|
|
|
NM_004415.4(DSP):c.6669A>T (p.Val2223=)
|
|
|
NM_004415.4(DSP):c.6705A>T (p.Glu2235Asp)
|
|
|
NM_004415.4(DSP):c.6718C>A (p.Gln2240Lys)
|
rs374262024
|
|
NM_004415.4(DSP):c.6720G>T (p.Gln2240His)
|
|
|
NM_004415.4(DSP):c.6764A>G (p.Gln2255Arg)
|
|
|
NM_004415.4(DSP):c.6772A>G (p.Ser2258Gly)
|
rs886038842
|
|
NM_004415.4(DSP):c.6778A>G (p.Ile2260Val)
|
|
|
NM_004415.4(DSP):c.67G>A (p.Gly23Ser)
|
rs1757993019
|
|
NM_004415.4(DSP):c.682A>G (p.Ile228Val)
|
rs934038992
|
|
NM_004415.4(DSP):c.685G>A (p.Gly229Ser)
|
rs376185352
|
|
NM_004415.4(DSP):c.686G>A (p.Gly229Asp)
|
|
|
NM_004415.4(DSP):c.6873G>A (p.Leu2291=)
|
|
|
NM_004415.4(DSP):c.6874C>T (p.Leu2292=)
|
|
|
NM_004415.4(DSP):c.6887C>T (p.Ala2296Val)
|
|
|
NM_004415.4(DSP):c.688G>T (p.Asp230Tyr)
|
|
|
NM_004415.4(DSP):c.6917G>C (p.Ser2306Thr)
|
|
|
NM_004415.4(DSP):c.6924G>C (p.Leu2308Phe)
|
|
|
NM_004415.4(DSP):c.6945C>A (p.Ala2315=)
|
rs761888068
|
|
NM_004415.4(DSP):c.6954_6955del (p.Gly2319fs)
|
rs1554108929
|
|
NM_004415.4(DSP):c.695G>T (p.Arg232Leu)
|
|
|
NM_004415.4(DSP):c.6974T>G (p.Phe2325Cys)
|
rs1349503429
|
|
NM_004415.4(DSP):c.699G>A (p.Trp233Ter)
|
rs397516955
|
|
NM_004415.4(DSP):c.6C>T (p.Ser2=)
|
rs776052488
|
|
NM_004415.4(DSP):c.7017T>C (p.Tyr2339=)
|
rs753946358
|
|
NM_004415.4(DSP):c.7019A>G (p.Asn2340Ser)
|
|
|
NM_004415.4(DSP):c.7021G>A (p.Asp2341Asn)
|
rs200314271
|
|
NM_004415.4(DSP):c.7060A>G (p.Met2354Val)
|
|
|
NM_004415.4(DSP):c.7119A>C (p.Ala2373=)
|
|
|
NM_004415.4(DSP):c.7121_7122delinsTT (p.Thr2374Ile)
|
|
|
NM_004415.4(DSP):c.7123G>C (p.Gly2375Arg)
|
rs376923069
|
|
NM_004415.4(DSP):c.712dup (p.Ile238fs)
|
rs397516956
|
|
NM_004415.4(DSP):c.7205G>C (p.Ser2402Thr)
|
|
|
NM_004415.4(DSP):c.7249G>A (p.Asp2417Asn)
|
|
|
NM_004415.4(DSP):c.7257C>T (p.Asn2419=)
|
|
|
NM_004415.4(DSP):c.726+1G>A
|
|
|
NM_004415.4(DSP):c.7269T>C (p.Asn2423=)
|
rs1759564582
|
|
NM_004415.4(DSP):c.7272T>C (p.Leu2424=)
|
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NM_004415.4(DSP):c.7297T>A (p.Cys2433Ser)
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NM_004415.4(DSP):c.7327C>T (p.Leu2443Phe)
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rs864309585
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NM_004415.4(DSP):c.7335T>A (p.Pro2445=)
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rs1262869578
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NM_004415.4(DSP):c.7346del (p.Lys2449fs)
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NM_004415.4(DSP):c.7347GAA[1] (p.Lys2451del)
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rs766860183
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NM_004415.4(DSP):c.7381C>T (p.Leu2461Phe)
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rs201863784
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NM_004415.4(DSP):c.7382T>A (p.Leu2461His)
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NM_004415.4(DSP):c.7385G>A (p.Arg2462Lys)
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NM_004415.4(DSP):c.7418_7425dup (p.Glu2476fs)
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NM_004415.4(DSP):c.743T>C (p.Ile248Thr)
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rs1455602530
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NM_004415.4(DSP):c.7456G>A (p.Gly2486Ser)
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NM_004415.4(DSP):c.7477T>G (p.Phe2493Val)
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rs138798656
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NM_004415.4(DSP):c.7500A>G (p.Glu2500=)
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rs1554109015
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NM_004415.4(DSP):c.7557G>A (p.Leu2519=)
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rs397516957
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NM_004415.4(DSP):c.7570_7573del (p.Thr2524fs)
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rs1561703922
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NM_004415.4(DSP):c.7579C>G (p.Gln2527Glu)
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rs2113702673
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NM_004415.4(DSP):c.7581G>A (p.Gln2527=)
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rs879254350
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NM_004415.4(DSP):c.7589T>C (p.Ile2530Thr)
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rs768564872
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NM_004415.4(DSP):c.7592A>C (p.Gln2531Pro)
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NM_004415.4(DSP):c.7612C>T (p.Leu2538Phe)
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NM_004415.4(DSP):c.7643G>C (p.Arg2548Pro)
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NM_004415.4(DSP):c.7647C>T (p.Ser2549=)
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rs765385403
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NM_004415.4(DSP):c.7648G>A (p.Gly2550Ser)
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rs781151826
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NM_004415.4(DSP):c.7650C>G (p.Gly2550=)
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NM_004415.4(DSP):c.7678A>G (p.Met2560Val)
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NM_004415.4(DSP):c.7718T>C (p.Met2573Thr)
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rs1759589574
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NM_004415.4(DSP):c.7747A>C (p.Ser2583Arg)
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NM_004415.4(DSP):c.774G>C (p.Leu258=)
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rs753228677
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NM_004415.4(DSP):c.777+1G>A
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NM_004415.4(DSP):c.778-2A>G
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rs113726158
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NM_004415.4(DSP):c.7780dup (p.Ser2594fs)
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NM_004415.4(DSP):c.7795G>A (p.Val2599Ile)
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NM_004415.4(DSP):c.781G>A (p.Ala261Thr)
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rs967465931
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NM_004415.4(DSP):c.7823C>A (p.Ser2608Tyr)
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rs777066674
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NM_004415.4(DSP):c.782C>G (p.Ala261Gly)
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NM_004415.4(DSP):c.7831G>T (p.Asp2611Tyr)
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NM_004415.4(DSP):c.7837C>G (p.Leu2613Val)
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rs1286275087
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NM_004415.4(DSP):c.7851C>T (p.Ser2617=)
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NM_004415.4(DSP):c.7893C>T (p.Ile2631=)
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rs778552693
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NM_004415.4(DSP):c.78G>T (p.Leu26=)
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rs71559180
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NM_004415.4(DSP):c.7902A>T (p.Thr2634=)
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NM_004415.4(DSP):c.7923C>A (p.Ile2641=)
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NM_004415.4(DSP):c.7939G>A (p.Gly2647Ser)
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NM_004415.4(DSP):c.7991C>A (p.Thr2664Asn)
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rs1759611499
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NM_004415.4(DSP):c.8001G>C (p.Gln2667His)
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rs758047603
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NM_004415.4(DSP):c.8017G>A (p.Asp2673Asn)
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NM_004415.4(DSP):c.8034T>C (p.Gly2678=)
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NM_004415.4(DSP):c.8068C>A (p.Pro2690Thr)
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NM_004415.4(DSP):c.8106G>A (p.Lys2702=)
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NM_004415.4(DSP):c.8111AGA[2] (p.Lys2706del)
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rs397516962
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NM_004415.4(DSP):c.8122T>A (p.Ser2708Thr)
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rs924262414
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NM_004415.4(DSP):c.8128G>T (p.Ala2710Ser)
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rs1561705003
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NM_004415.4(DSP):c.8132A>G (p.Glu2711Gly)
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NM_004415.4(DSP):c.8133G>A (p.Glu2711=)
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rs375348086
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NM_004415.4(DSP):c.8139G>C (p.Val2713=)
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rs555992606
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NM_004415.4(DSP):c.8156C>T (p.Pro2719Leu)
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NM_004415.4(DSP):c.8163G>A (p.Glu2721=)
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NM_004415.4(DSP):c.8170C>T (p.Gln2724Ter)
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rs879254353
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NM_004415.4(DSP):c.8173C>A (p.Arg2725Ser)
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NM_004415.4(DSP):c.8178C>T (p.Phe2726=)
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rs901698792
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NM_004415.4(DSP):c.8183A>C (p.Glu2728Ala)
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NM_004415.4(DSP):c.8188del (p.Gln2730fs)
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rs886038929
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NM_004415.4(DSP):c.81C>A (p.Arg27=)
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rs773559423
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NM_004415.4(DSP):c.8208dup (p.Val2737fs)
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rs1581825892
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NM_004415.4(DSP):c.8213A>G (p.Asp2738Gly)
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rs2113704486
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NM_004415.4(DSP):c.8215C>T (p.Pro2739Ser)
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NM_004415.4(DSP):c.822CAT[1] (p.Ile276del)
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NM_004415.4(DSP):c.8230A>G (p.Arg2744Gly)
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rs1198357388
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NM_004415.4(DSP):c.8232G>A (p.Arg2744=)
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rs780253169
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NM_004415.4(DSP):c.8247A>C (p.Glu2749Asp)
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NM_004415.4(DSP):c.8254C>T (p.Arg2752Trp)
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NM_004415.4(DSP):c.8262G>T (p.Gly2754=)
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rs187226788
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NM_004415.4(DSP):c.8270A>C (p.Asp2757Ala)
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NM_004415.4(DSP):c.8276G>A (p.Arg2759His)
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rs936541705
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NM_004415.4(DSP):c.8300C>G (p.Thr2767Ser)
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NM_004415.4(DSP):c.8300C>T (p.Thr2767Ile)
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rs34884895
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NM_004415.4(DSP):c.8302A>G (p.Ser2768Gly)
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NM_004415.4(DSP):c.8304C>G (p.Ser2768Arg)
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NM_004415.4(DSP):c.8305A>G (p.Ser2769Gly)
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NM_004415.4(DSP):c.8312C>T (p.Ala2771Val)
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NM_004415.4(DSP):c.8322G>C (p.Leu2774=)
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NM_004415.4(DSP):c.8347A>G (p.Ile2783Val)
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rs786205417
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NM_004415.4(DSP):c.8426C>T (p.Ser2809Leu)
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NM_004415.4(DSP):c.8440C>A (p.Pro2814Thr)
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rs1303168294
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NM_004415.4(DSP):c.8441C>T (p.Pro2814Leu)
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rs756310918
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NM_004415.4(DSP):c.8464G>C (p.Ala2822Pro)
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NM_004415.4(DSP):c.8466T>C (p.Ala2822=)
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NM_004415.4(DSP):c.8472_8483del (p.2827_2830SGSR[4])
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rs397516967
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NM_004415.4(DSP):c.8481_8492del (p.2827_2830SGSR[4])
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rs397516968
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NM_004415.4(DSP):c.8492C>T (p.Ser2831Leu)
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NM_004415.4(DSP):c.8493_8504del (p.2827SGSR[4])
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rs748194022
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NM_004415.4(DSP):c.8493_8504dup (p.2827_2830SGSR[6])
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rs748194022
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NM_004415.4(DSP):c.8496A>C (p.Gly2832=)
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rs760011967
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NM_004415.4(DSP):c.8496ATCTCGCTCCGG[1] (p.2827SGSR[4])
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rs397516971
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NM_004415.4(DSP):c.8496ATCTCGCTCCGG[3] (p.2827SGSR[6])
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rs397516971
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NM_004415.4(DSP):c.8505C>G (p.Ser2835=)
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NM_004415.4(DSP):c.8513G>A (p.Arg2838His)
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rs930055191
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NM_004415.4(DSP):c.8515_8517delinsAGT (p.Ser2839=)
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rs1554109285
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NM_004415.4(DSP):c.8518G>A (p.Gly2840Arg)
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NM_004415.4(DSP):c.8527A>C (p.Ser2843Arg)
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NM_004415.4(DSP):c.8529_8540del (p.2827_2830SGSR[4])
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rs794728151
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NM_004415.4(DSP):c.8560G>A (p.Gly2854Arg)
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NM_004415.4(DSP):c.8577_8588del (p.2858YS[1])
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rs2113705755
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NM_004415.4(DSP):c.8591T>A (p.Phe2864Tyr)
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rs1554109334
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NM_004415.4(DSP):c.8596AGT[1] (p.Ser2868del)
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NM_004415.4(DSP):c.868G>A (p.Glu290Lys)
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rs397516974
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NM_004415.4(DSP):c.898G>T (p.Asp300Tyr)
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NM_004415.4(DSP):c.913A>G (p.Ile305Val)
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rs17604693
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NM_004415.4(DSP):c.922A>C (p.Lys308Gln)
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rs1060500617
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NM_004415.4(DSP):c.928dup (p.Glu310fs)
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rs794728137
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NM_004415.4(DSP):c.935_937del (p.Phe312del)
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rs794728138
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NM_004415.4(DSP):c.938C>T (p.Ser313Phe)
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NM_004415.4(DSP):c.944G>T (p.Arg315Leu)
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rs558825586
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NM_004415.4(DSP):c.945C>T (p.Arg315=)
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NM_004415.4(DSP):c.967G>C (p.Glu323Gln)
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rs1057522287
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NM_004415.4(DSP):c.978C>A (p.Leu326=)
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NM_004415.4(DSP):c.983A>C (p.Lys328Thr)
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NM_004415.4(DSP):c.991C>T (p.Gln331Ter)
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rs121912991
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NM_004415.4(DSP):c.99C>T (p.Gly33=)
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rs755898551
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