ClinVar Miner

List of variants in gene DSP studied for familial isolated arrhythmogenic right ventricular dysplasia

Included ClinVar conditions (26):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 3695
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HGVS dbSNP gnomAD frequency
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.*197C>T rs12250 0.26572
NM_004415.4(DSP):c.2091= (p.Gly697=) rs2076304 0.23152
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.423-16_423-15insC rs113028223 0.03015
NM_004415.4(DSP):c.913A>T (p.Ile305Phe) rs17604693 0.02655
NM_004415.4(DSP):c.1903+7T>C rs28763962 0.02605
NM_004415.4(DSP):c.273+10C>T rs56148603 0.02451
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.2673T>C (p.Tyr891=) rs146407262 0.00703
NM_004415.4(DSP):c.8300C>A (p.Thr2767Asn) rs34884895 0.00701
NM_004415.4(DSP):c.*9T>A rs11558732 0.00645
NM_004415.4(DSP):c.1481A>T (p.Tyr494Phe) rs28763961 0.00618
NM_004415.4(DSP):c.1702-18C>T rs148417566 0.00594
NM_004415.4(DSP):c.105G>A (p.Gly35=) rs77445784 0.00587
NM_004415.4(DSP):c.4455G>T (p.Arg1485Ser) rs113902911 0.00572
NM_004415.4(DSP):c.8481C>T (p.Ser2827=) rs151029175 0.00494
NM_004415.4(DSP):c.2630+18C>T rs145963404 0.00475
NM_004415.4(DSP):c.6208G>A (p.Asp2070Asn) rs41302885 0.00290
NM_004415.4(DSP):c.4141A>T (p.Thr1381Ser) rs77758574 0.00270
NM_004415.4(DSP):c.7995G>A (p.Thr2665=) rs35379048 0.00265
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.2773C>T (p.Arg925Trp) rs145933612 0.00143
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.*39T>C rs145079869 0.00128
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.939+17C>T rs140481492 0.00118
NM_004415.4(DSP):c.2986-6T>A rs144748036 0.00108
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.741G>A (p.Ala247=) rs2806234 0.00083
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.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.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.6296C>T (p.Pro2099Leu) rs201625698 0.00038
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.6295C>A (p.Pro2099Thr) rs200752536 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.1574+7C>T rs375717504 0.00030
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.*47T>C rs376397291 0.00026
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.-157G>A rs886061742 0.00025
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.422+14A>G rs533188973 0.00022
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.1949A>G (p.Asn650Ser) rs145650440 0.00016
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.889G>A (p.Asp297Asn) rs201930322 0.00014
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.4386C>T (p.Ser1462=) rs149981214 0.00013
NM_004415.4(DSP):c.*289C>T rs886061749 0.00012
NM_004415.4(DSP):c.2037A>G (p.Ile679Met) rs151049942 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.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.1140+6T>C rs534740669 0.00010
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.4992G>C (p.Leu1664=) rs772302453 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.*58T>C rs753281894 0.00009
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.8544A>C (p.Gly2848=) rs201876903 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.1044+10A>C rs750114473 0.00007
NM_004415.4(DSP):c.1044+12G>A rs775969969 0.00007
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.*577G>A rs886061755 0.00006
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.174A>G (p.Gln58=) rs140384933 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.2437-20T>G rs778134276 0.00006
NM_004415.4(DSP):c.259C>G (p.Leu87Val) rs377652477 0.00006
NM_004415.4(DSP):c.2630+19G>A rs139830549 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.5197G>A (p.Asp1733Asn) rs138588403 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.726+7G>C rs370309952 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.*62A>T rs182788116 0.00005
NM_004415.4(DSP):c.1034A>G (p.Asp345Gly) rs753855393 0.00005
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.284A>G (p.Tyr95Cys) rs781226937 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.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.5555G>A (p.Arg1852His) rs193922669 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.727-10T>G rs375327581 0.00005
NM_004415.4(DSP):c.778-20C>T rs762596346 0.00005
NM_004415.4(DSP):c.7964C>G (p.Ala2655Gly) rs193922671 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.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.1418A>G (p.Gln473Arg) rs746802503 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.1963A>T (p.Ile655Phe) rs148868379 0.00004
NM_004415.4(DSP):c.2308G>A (p.Val770Ile) rs1225927424 0.00004
NM_004415.4(DSP):c.2317C>T (p.Leu773=) rs767433534 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.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.2735T>C (p.Leu912Ser) rs765831604 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.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.4752G>A (p.Ala1584=) rs201213622 0.00004
NM_004415.4(DSP):c.4819G>A (p.Glu1607Lys) rs750054075 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.5522C>T (p.Ser1841Leu) rs397516947 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.*358A>T rs886061752 0.00003
NM_004415.4(DSP):c.1045-8T>C rs201633815 0.00003
NM_004415.4(DSP):c.1103T>C (p.Ile368Thr) rs141163578 0.00003
NM_004415.4(DSP):c.1254C>G (p.Ile418Met) rs752264359 0.00003
NM_004415.4(DSP):c.1267-14A>T rs374439921 0.00003
NM_004415.4(DSP):c.1324T>G (p.Ser442Ala) rs755492444 0.00003
NM_004415.4(DSP):c.1420-15T>C rs569955363 0.00003
NM_004415.4(DSP):c.1487C>T (p.Thr496Met) rs374283517 0.00003
NM_004415.4(DSP):c.1501G>A (p.Val501Ile) rs368778031 0.00003
NM_004415.4(DSP):c.1512T>C (p.Leu504=) rs537526794 0.00003
NM_004415.4(DSP):c.1557C>T (p.Ala519=) rs769629611 0.00003
NM_004415.4(DSP):c.1630A>C (p.Met544Leu) rs201960323 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.1840G>A (p.Asp614Asn) rs764951792 0.00003
NM_004415.4(DSP):c.1904-12T>G rs750869804 0.00003
NM_004415.4(DSP):c.1904-17C>G rs370715047 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.21C>T (p.Ser7=) rs750532252 0.00003
NM_004415.4(DSP):c.2310A>C (p.Val770=) rs762909119 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.2722C>T (p.Arg908Cys) rs376932045 0.00003
NM_004415.4(DSP):c.3015A>G (p.Glu1005=) rs397516930 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.3651G>A (p.Thr1217=) rs1057522191 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.4041A>G (p.Glu1347=) rs200671552 0.00003
NM_004415.4(DSP):c.4077C>T (p.Ile1359=) rs747249306 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.4377A>G (p.Thr1459=) rs771910118 0.00003
NM_004415.4(DSP):c.4387G>A (p.Val1463Ile) rs948230523 0.00003
NM_004415.4(DSP):c.4492A>G (p.Lys1498Glu) rs794728122 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.4855del (p.Leu1619fs) rs1231490307 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.5154G>A (p.Leu1718=) rs376620183 0.00003
NM_004415.4(DSP):c.5223G>A (p.Ala1741=) rs201984474 0.00003
NM_004415.4(DSP):c.5414G>A (p.Cys1805Tyr) rs768161038 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.5865T>C (p.Thr1955=) rs1306745746 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.6310del (p.Thr2104fs) rs730880092 0.00003
NM_004415.4(DSP):c.6368G>A (p.Arg2123His) rs142272846 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.6935T>C (p.Val2312Ala) rs886061748 0.00003
NM_004415.4(DSP):c.7014G>C (p.Gly2338=) rs1054965369 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.7569G>A (p.Lys2523=) rs1230846776 0.00003
NM_004415.4(DSP):c.7588A>T (p.Ile2530Phe) rs397516958 0.00003
NM_004415.4(DSP):c.7653C>T (p.Ser2551=) rs746983874 0.00003
NM_004415.4(DSP):c.7826T>C (p.Phe2609Ser) rs397516959 0.00003
NM_004415.4(DSP):c.789T>C (p.Phe263=) rs1354363918 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.837G>A (p.Thr279=) rs368051840 0.00003
NM_004415.4(DSP):c.8401C>G (p.Arg2801Gly) rs760215987 0.00003
NM_004415.4(DSP):c.8433G>A (p.Lys2811=) rs753011095 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.1068G>A (p.Thr356=) rs766094745 0.00002
NM_004415.4(DSP):c.1149A>G (p.Glu383=) rs572980966 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.1235A>G (p.Gln412Arg) rs1183147646 0.00002
NM_004415.4(DSP):c.1298G>A (p.Arg433His) rs752143388 0.00002
NM_004415.4(DSP):c.130C>T (p.Arg44Trp) rs1255744065 0.00002
NM_004415.4(DSP):c.1349C>T (p.Pro450Leu) rs756357907 0.00002
NM_004415.4(DSP):c.1419+18A>C rs772789817 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.1663A>T (p.Ile555Phe) rs763241703 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.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.2027G>A (p.Arg676His) rs777782794 0.00002
NM_004415.4(DSP):c.2046C>T (p.Cys682=) rs771674559 0.00002
NM_004415.4(DSP):c.2184T>A (p.Asp728Glu) rs750383681 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.2675G>A (p.Arg892His) rs758592774 0.00002
NM_004415.4(DSP):c.2719C>T (p.Arg907Cys) rs749051278 0.00002
NM_004415.4(DSP):c.274-4T>G rs755025350 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.3243G>A (p.Glu1081=) rs761399419 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.3642T>A (p.Ile1214=) rs755908729 0.00002
NM_004415.4(DSP):c.3661A>G (p.Ile1221Val) rs794728120 0.00002
NM_004415.4(DSP):c.3729A>G (p.Ser1243=) rs150241609 0.00002
NM_004415.4(DSP):c.3753T>C (p.Asp1251=) rs749003139 0.00002
NM_004415.4(DSP):c.3754G>A (p.Glu1252Lys) rs1262533485 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.4005G>A (p.Gln1335=) rs775720924 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.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.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.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.5193C>T (p.Tyr1731=) rs201663619 0.00002
NM_004415.4(DSP):c.5324G>T (p.Arg1775Ile) rs34738426 0.00002
NM_004415.4(DSP):c.5358A>G (p.Lys1786=) rs771810995 0.00002
NM_004415.4(DSP):c.5383T>A (p.Ser1795Thr) rs764279057 0.00002
NM_004415.4(DSP):c.5610A>G (p.Gln1870=) rs777420903 0.00002
NM_004415.4(DSP):c.5655A>G (p.Arg1885=) rs768996277 0.00002
NM_004415.4(DSP):c.5726T>C (p.Ile1909Thr) rs752360866 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.5935C>G (p.Gln1979Glu) rs773436512 0.00002
NM_004415.4(DSP):c.6054C>T (p.Ile2018=) rs369700204 0.00002
NM_004415.4(DSP):c.6100G>A (p.Ala2034Thr) rs1043978096 0.00002
NM_004415.4(DSP):c.6223C>T (p.Arg2075Trp) rs751050235 0.00002
NM_004415.4(DSP):c.6269A>G (p.Glu2090Gly) rs755069593 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.6451C>T (p.Arg2151Trp) rs181608152 0.00002
NM_004415.4(DSP):c.6464A>G (p.Asp2155Gly) rs752740718 0.00002
NM_004415.4(DSP):c.6476A>T (p.Tyr2159Phe) rs1581822548 0.00002
NM_004415.4(DSP):c.6516T>C (p.Phe2172=) rs1266595950 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.6690G>A (p.Pro2230=) rs145751089 0.00002
NM_004415.4(DSP):c.6732C>T (p.Asp2244=) rs764124433 0.00002
NM_004415.4(DSP):c.6762C>T (p.Leu2254=) rs138683913 0.00002
NM_004415.4(DSP):c.7074C>T (p.Leu2358=) rs766369241 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.7185C>T (p.Gly2395=) rs1296848321 0.00002
NM_004415.4(DSP):c.7191C>T (p.Phe2397=) rs150574081 0.00002
NM_004415.4(DSP):c.7197G>A (p.Glu2399=) rs372594837 0.00002
NM_004415.4(DSP):c.7200A>C (p.Glu2400Asp) rs1209240894 0.00002
NM_004415.4(DSP):c.72G>A (p.Pro24=) rs780463807 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.7787T>C (p.Ile2596Thr) rs770590535 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.8044C>G (p.Gln2682Glu) rs772365921 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.8279C>T (p.Ala2760Val) rs774309765 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.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.8536C>G (p.Arg2846Gly) rs397516972 0.00002
NM_004415.4(DSP):c.939+16G>A rs781034092 0.00002
NM_004415.4(DSP):c.940-15T>C rs766635749 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.1044+11T>C rs772511991 0.00001
NM_004415.4(DSP):c.1045-18G>A rs1332704469 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.1065G>A (p.Gln355=) rs750289780 0.00001
NM_004415.4(DSP):c.106G>A (p.Gly36Ser) rs1395509692 0.00001
NM_004415.4(DSP):c.1077T>C (p.Ser359=) rs1179244955 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.111C>T (p.Thr37=) rs727502995 0.00001
NM_004415.4(DSP):c.1136T>C (p.Phe379Ser) rs1064795084 0.00001
NM_004415.4(DSP):c.1141-14C>T rs1258179786 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.1266+5C>T rs1052624321 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.1281A>G (p.Lys427=) rs1758928792 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.1383T>C (p.Ile461=) rs1758933736 0.00001
NM_004415.4(DSP):c.1452G>A (p.Leu484=) rs1413578599 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.1528C>T (p.Leu510=) rs1019692996 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.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.1575-16C>G rs756806835 0.00001
NM_004415.4(DSP):c.1575-7C>T rs1203683996 0.00001
NM_004415.4(DSP):c.1582C>G (p.Gln528Glu) rs1267435790 0.00001
NM_004415.4(DSP):c.1582C>T (p.Gln528Ter) rs1267435790 0.00001
NM_004415.4(DSP):c.1590C>T (p.Tyr530=) rs769196176 0.00001
NM_004415.4(DSP):c.163G>T (p.Gly55Cys) rs1214660308 0.00001
NM_004415.4(DSP):c.165C>T (p.Gly55=) rs1041730733 0.00001
NM_004415.4(DSP):c.1671A>G (p.Ile557Met) rs766505506 0.00001
NM_004415.4(DSP):c.1693A>G (p.Ile565Val) rs1287232143 0.00001
NM_004415.4(DSP):c.170+16G>A rs1475829163 0.00001
NM_004415.4(DSP):c.1702-10C>A rs774406075 0.00001
NM_004415.4(DSP):c.171-4T>C rs1554105598 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.1725T>C (p.Asp575=) rs756392585 0.00001
NM_004415.4(DSP):c.1726T>C (p.Tyr576His) rs1251859576 0.00001
NM_004415.4(DSP):c.1728C>T (p.Tyr576=) rs760696358 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.1737G>A (p.Thr579=) rs150734502 0.00001
NM_004415.4(DSP):c.1812C>T (p.Asp604=) rs1428325875 0.00001
NM_004415.4(DSP):c.181A>G (p.Thr61Ala) rs1380249575 0.00001
NM_004415.4(DSP):c.1821A>G (p.Lys607=) rs768675424 0.00001
NM_004415.4(DSP):c.1824A>G (p.Ile608Met) rs776461292 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.195C>T (p.His65=) rs1324720466 0.00001
NM_004415.4(DSP):c.1960G>A (p.Val654Ile) rs375629257 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.1992A>G (p.Gln664=) rs759117503 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.2073C>G (p.Leu691=) rs768290750 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.210C>T (p.Thr70=) rs1303431114 0.00001
NM_004415.4(DSP):c.2130+8T>C rs1450035171 0.00001
NM_004415.4(DSP):c.2131-10T>C rs369821143 0.00001
NM_004415.4(DSP):c.2131-19T>C rs1302281595 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.2192C>A (p.Ala731Asp) rs1280322841 0.00001
NM_004415.4(DSP):c.2194A>G (p.Asn732Asp) rs746785505 0.00001
NM_004415.4(DSP):c.223C>T (p.Leu75=) rs746019083 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.2265T>C (p.Asn755=) rs770798708 0.00001
NM_004415.4(DSP):c.2270A>G (p.Asn757Ser) rs372354883 0.00001
NM_004415.4(DSP):c.2280A>C (p.Thr760=) rs1375561193 0.00001
NM_004415.4(DSP):c.2287T>C (p.Tyr763His) rs1064794463 0.00001
NM_004415.4(DSP):c.2298-17T>G rs375721577 0.00001
NM_004415.4(DSP):c.2298-3C>T rs1300722110 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.2423G>A (p.Arg808His) rs372906646 0.00001
NM_004415.4(DSP):c.2436+2T>C rs774514264 0.00001
NM_004415.4(DSP):c.2437-9dup rs1239613725 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.2482A>G (p.Met828Val) rs1338201926 0.00001
NM_004415.4(DSP):c.249G>A (p.Met83Ile) rs1426930663 0.00001
NM_004415.4(DSP):c.2502A>G (p.Lys834=) rs764842338 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.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.2629A>C (p.Arg877=) rs1581810753 0.00001
NM_004415.4(DSP):c.2630+10C>A rs757717367 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.2658G>A (p.Lys886=) rs201404613 0.00001
NM_004415.4(DSP):c.265G>A (p.Val89Met) rs766022243 0.00001
NM_004415.4(DSP):c.2666G>A (p.Arg889Lys) rs762341335 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.2728G>A (p.Asp910Asn) rs775080138 0.00001
NM_004415.4(DSP):c.273+11C>G rs1234194955 0.00001
NM_004415.4(DSP):c.273+3A>G rs794728107 0.00001
NM_004415.4(DSP):c.273+9T>C rs1439195112 0.00001
NM_004415.4(DSP):c.2793+19T>C rs778502149 0.00001
NM_004415.4(DSP):c.2822G>A (p.Arg941Gln) rs759869347 0.00001
NM_004415.4(DSP):c.2841A>G (p.Val947=) rs1489060030 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.2877+19G>A rs1167474508 0.00001
NM_004415.4(DSP):c.2877+9G>T rs1759263896 0.00001
NM_004415.4(DSP):c.2878-4G>A rs758303966 0.00001
NM_004415.4(DSP):c.2886G>C (p.Glu962Asp) rs1483445708 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.2925G>A (p.Leu975=) rs1163951082 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.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.2991A>C (p.Ala997=) rs780686578 0.00001
NM_004415.4(DSP):c.2993A>T (p.Asp998Val) rs752344739 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.3011T>C (p.Ile1004Thr) rs910919703 0.00001
NM_004415.4(DSP):c.3025A>G (p.Arg1009Gly) rs1413346143 0.00001
NM_004415.4(DSP):c.3039T>C (p.Tyr1013=) rs1383881452 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.3084+9T>C rs751450713 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.3117G>A (p.Glu1039=) rs763766403 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.3200C>T (p.Ala1067Val) rs1317030435 0.00001
NM_004415.4(DSP):c.3216C>T (p.Phe1072=) rs774512190 0.00001
NM_004415.4(DSP):c.321G>A (p.Leu107=) rs765707433 0.00001
NM_004415.4(DSP):c.3221C>T (p.Ala1074Val) rs745849763 0.00001
NM_004415.4(DSP):c.3222G>A (p.Ala1074=) rs772040899 0.00001
NM_004415.4(DSP):c.3249G>A (p.Lys1083=) rs764787427 0.00001
NM_004415.4(DSP):c.326A>C (p.Glu109Ala) rs918984340 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.3333C>A (p.Ile1111=) rs1759349079 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.3396T>C (p.Phe1132=) rs41302881 0.00001
NM_004415.4(DSP):c.340G>A (p.Ala114Thr) rs751745906 0.00001
NM_004415.4(DSP):c.3453G>A (p.Glu1151=) rs1554108084 0.00001
NM_004415.4(DSP):c.3471A>G (p.Lys1157=) rs371743739 0.00001
NM_004415.4(DSP):c.3520T>C (p.Leu1174=) rs1355577119 0.00001
NM_004415.4(DSP):c.3530T>A (p.Leu1177Gln) rs770489625 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.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.3701A>G (p.Asn1234Ser) rs185367490 0.00001
NM_004415.4(DSP):c.3715C>T (p.Leu1239Phe) rs752645827 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.3819C>T (p.Asn1273=) rs1390665527 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.3843C>T (p.Gly1281=) rs757848395 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.386G>A (p.Arg129Gln) rs749155619 0.00001
NM_004415.4(DSP):c.3878T>C (p.Ile1293Thr) rs759823665 0.00001
NM_004415.4(DSP):c.38C>T (p.Thr13Ile) rs201133637 0.00001
NM_004415.4(DSP):c.3903G>A (p.Gln1301=) rs1284991362 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.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.4125C>A (p.Thr1375=) rs766338180 0.00001
NM_004415.4(DSP):c.4142C>G (p.Thr1381Ser) rs767174407 0.00001
NM_004415.4(DSP):c.4173C>T (p.Tyr1391=) rs75537269 0.00001
NM_004415.4(DSP):c.4174C>T (p.Arg1392Trp) rs987487921 0.00001
NM_004415.4(DSP):c.4184T>A (p.Ile1395Lys) rs1220191244 0.00001
NM_004415.4(DSP):c.423-17G>A rs936607131 0.00001
NM_004415.4(DSP):c.423G>C (p.Arg141Ser) rs771688614 0.00001
NM_004415.4(DSP):c.4242C>T (p.Asn1414=) rs375941706 0.00001
NM_004415.4(DSP):c.4248A>G (p.Leu1416=) rs760259046 0.00001
NM_004415.4(DSP):c.4274G>A (p.Arg1425Lys) rs577560157 0.00001
NM_004415.4(DSP):c.4303G>C (p.Ala1435Pro) rs751972271 0.00001
NM_004415.4(DSP):c.4305_4309del (p.Thr1436fs) rs1554108287 0.00001
NM_004415.4(DSP):c.4311C>G (p.Gly1437=) rs781353867 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.4347T>G (p.Val1449=) rs778043017 0.00001
NM_004415.4(DSP):c.4358A>C (p.Gln1453Pro) rs1464785832 0.00001
NM_004415.4(DSP):c.4359A>G (p.Gln1453=) rs1174059606 0.00001
NM_004415.4(DSP):c.4376C>T (p.Thr1459Ile) rs1160666212 0.00001
NM_004415.4(DSP):c.4395T>C (p.Tyr1465=) rs1236464864 0.00001
NM_004415.4(DSP):c.4405C>T (p.Leu1469Phe) rs752121953 0.00001
NM_004415.4(DSP):c.4419C>T (p.Ala1473=) rs727504542 0.00001
NM_004415.4(DSP):c.4433A>G (p.Asp1478Gly) rs767339003 0.00001
NM_004415.4(DSP):c.4446G>A (p.Glu1482=) rs145213715 0.00001
NM_004415.4(DSP):c.4447A>T (p.Ile1483Leu) rs775143161 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.4470C>T (p.Ile1490=) rs1759402221 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.4592A>C (p.Gln1531Pro) rs1208037043 0.00001
NM_004415.4(DSP):c.4620C>T (p.Ile1540=) rs1385558717 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.4668C>T (p.Ile1556=) rs1299604004 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.4698G>A (p.Leu1566=) rs751608838 0.00001
NM_004415.4(DSP):c.4716G>A (p.Lys1572=) rs1759413690 0.00001
NM_004415.4(DSP):c.4735C>T (p.Arg1579Trp) rs755868373 0.00001
NM_004415.4(DSP):c.4736G>A (p.Arg1579Gln) rs397516942 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.4779G>A (p.Lys1593=) rs759646052 0.00001
NM_004415.4(DSP):c.479G>A (p.Arg160Gln) rs752941845 0.00001
NM_004415.4(DSP):c.4811C>T (p.Ser1604Leu) rs757018930 0.00001
NM_004415.4(DSP):c.4812G>A (p.Ser1604=) rs778729982 0.00001
NM_004415.4(DSP):c.4841A>G (p.Asn1614Ser) rs1759419529 0.00001
NM_004415.4(DSP):c.4859A>G (p.Glu1620Gly) rs1423503309 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.4950C>G (p.Thr1650=) rs948524246 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.5014C>G (p.Gln1672Glu) rs786205416 0.00001
NM_004415.4(DSP):c.5062G>A (p.Ala1688Thr) rs757753880 0.00001
NM_004415.4(DSP):c.508G>A (p.Gly170Arg) rs779608764 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.5118G>A (p.Leu1706=) rs747132423 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.5130A>T (p.Thr1710=) rs1339008022 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.5202G>C (p.Leu1734=) rs755220841 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.5244C>T (p.Thr1748=) rs759222918 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.5284C>T (p.Arg1762Trp) rs766833113 0.00001
NM_004415.4(DSP):c.5380-12C>T rs1393661264 0.00001
NM_004415.4(DSP):c.5380-15C>A rs753028657 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.5550A>G (p.Lys1850=) rs1759482564 0.00001
NM_004415.4(DSP):c.5589C>T (p.Asp1863=) rs751379396 0.00001
NM_004415.4(DSP):c.5593A>T (p.Asn1865Tyr) rs562015789 0.00001
NM_004415.4(DSP):c.5594A>G (p.Asn1865Ser) rs780714982 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.5648C>T (p.Ser1883Leu) rs1418959797 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.5698G>A (p.Glu1900Lys) rs751447598 0.00001
NM_004415.4(DSP):c.5707C>A (p.Gln1903Lys) rs794728103 0.00001
NM_004415.4(DSP):c.5722A>G (p.Arg1908Gly) rs781030107 0.00001
NM_004415.4(DSP):c.5749C>T (p.Leu1917=) rs936938713 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.5805T>C (p.Tyr1935=) rs748358814 0.00001
NM_004415.4(DSP):c.5810G>A (p.Arg1937Lys) rs375502200 0.00001
NM_004415.4(DSP):c.5820T>C (p.Asp1940=) rs763026647 0.00001
NM_004415.4(DSP):c.5822A>C (p.Lys1941Thr) rs143484124 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.5838A>C (p.Pro1946=) rs369822839 0.00001
NM_004415.4(DSP):c.5859C>G (p.Thr1953=) rs752518537 0.00001
NM_004415.4(DSP):c.5875T>C (p.Trp1959Arg) rs1759501923 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.588G>A (p.Arg196=) rs754666224 0.00001
NM_004415.4(DSP):c.5912T>C (p.Leu1971Pro) rs397516950 0.00001
NM_004415.4(DSP):c.5940dup (p.Tyr1981fs) rs1561701721 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.5963A>G (p.Lys1988Arg) rs767516148 0.00001
NM_004415.4(DSP):c.5964A>G (p.Lys1988=) rs775247252 0.00001
NM_004415.4(DSP):c.597+8G>A rs992434570 0.00001
NM_004415.4(DSP):c.5976C>A (p.Asp1992Glu) rs763921000 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.6002T>A (p.Val2001Glu) rs926676669 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.6086A>G (p.Tyr2029Cys) rs753271305 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.6150G>A (p.Glu2050=) rs1166392485 0.00001
NM_004415.4(DSP):c.61G>A (p.Glu21Lys) rs747956457 0.00001
NM_004415.4(DSP):c.6224G>A (p.Arg2075Gln) rs759000314 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.6241G>A (p.Asp2081Asn) rs779129603 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.6332T>C (p.Ile2111Thr) rs370865499 0.00001
NM_004415.4(DSP):c.6346A>G (p.Ile2116Val) rs777184414 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.6385A>G (p.Ile2129Val) rs755981187 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.6441C>A (p.Val2147=) rs762513279 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.6549C>T (p.Tyr2183=) rs771461040 0.00001
NM_004415.4(DSP):c.6550G>A (p.Val2184Met) rs774832931 0.00001
NM_004415.4(DSP):c.6576C>A (p.Ile2192=) rs1032400756 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.664C>T (p.Arg222Trp) rs1233981969 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.6733G>A (p.Glu2245Lys) rs539763516 0.00001
NM_004415.4(DSP):c.6776G>A (p.Cys2259Tyr) rs754635738 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.6852A>G (p.Arg2284=) rs141148057 0.00001
NM_004415.4(DSP):c.6859A>T (p.Thr2287Ser) rs869025396 0.00001
NM_004415.4(DSP):c.6879A>G (p.Glu2293=) rs1327990933 0.00001
NM_004415.4(DSP):c.6902T>C (p.Ile2301Thr) rs772381363 0.00001
NM_004415.4(DSP):c.6921C>T (p.Asn2307=) rs775897238 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.6930A>G (p.Leu2310=) rs1759552189 0.00001
NM_004415.4(DSP):c.6939G>A (p.Glu2313=) rs1471693700 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.7000C>T (p.Arg2334Ter) rs369482721 0.00001
NM_004415.4(DSP):c.7046C>G (p.Ser2349Cys) rs769930190 0.00001
NM_004415.4(DSP):c.7066A>T (p.Lys2356Ter) rs1561703331 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.7102T>C (p.Leu2368=) rs1581823488 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.720C>T (p.Ala240=) rs1324798719 0.00001
NM_004415.4(DSP):c.7215C>T (p.Leu2405=) rs191226040 0.00001
NM_004415.4(DSP):c.721G>A (p.Asp241Asn) rs868293429 0.00001
NM_004415.4(DSP):c.7249G>T (p.Asp2417Tyr) rs760501352 0.00001
NM_004415.4(DSP):c.726+8T>C rs1554106248 0.00001
NM_004415.4(DSP):c.7279C>A (p.Leu2427Met) rs555784793 0.00001
NM_004415.4(DSP):c.7287A>G (p.Leu2429=) rs764641630 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.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.7470T>C (p.Tyr2490=) rs372896350 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.7549G>T (p.Val2517Leu) rs764359340 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.7596T>C (p.Asp2532=) rs769362448 0.00001
NM_004415.4(DSP):c.7618G>A (p.Asp2540Asn) rs761136328 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.764A>T (p.Tyr255Phe) rs1490279963 0.00001
NM_004415.4(DSP):c.7650C>T (p.Gly2550=) rs780277298 0.00001
NM_004415.4(DSP):c.7694A>C (p.Asn2565Thr) rs769572594 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.772C>T (p.Leu258=) rs147522043 0.00001
NM_004415.4(DSP):c.7731C>T (p.Val2577=) rs1320894353 0.00001
NM_004415.4(DSP):c.7735G>A (p.Asp2579Asn) rs750744914 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.777+12T>G rs764388232 0.00001
NM_004415.4(DSP):c.7778T>G (p.Ile2593Ser) rs563272509 0.00001
NM_004415.4(DSP):c.778-9C>T rs773949949 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.7864A>G (p.Ile2622Val) rs752616130 0.00001
NM_004415.4(DSP):c.7876G>C (p.Glu2626Gln) rs144821643 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.7918G>T (p.Gly2640Cys) rs770390645 0.00001
NM_004415.4(DSP):c.7923C>T (p.Ile2641=) rs773906008 0.00001
NM_004415.4(DSP):c.7926T>G (p.Val2642=) rs917556170 0.00001
NM_004415.4(DSP):c.7934T>C (p.Ile2645Thr) rs749682166 0.00001
NM_004415.4(DSP):c.7937C>T (p.Thr2646Met) rs1425701789 0.00001
NM_004415.4(DSP):c.794G>A (p.Arg265Lys) rs1064796438 0.00001
NM_004415.4(DSP):c.7962G>A (p.Gln2654=) rs767539050 0.00001
NM_004415.4(DSP):c.7986C>A (p.His2662Gln) rs753720770 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.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.8087T>C (p.Ile2696Thr) rs1415854040 0.00001
NM_004415.4(DSP):c.8094C>T (p.Phe2698=) rs1201885200 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.8159A>T (p.Tyr2720Phe) rs367972703 0.00001
NM_004415.4(DSP):c.8162A>G (p.Glu2721Gly) rs1324438820 0.00001
NM_004415.4(DSP):c.8174G>A (p.Arg2725His) rs776674939 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.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.8235A>G (p.Ile2745Met) rs768893360 0.00001
NM_004415.4(DSP):c.8253C>G (p.Ile2751Met) rs1165200201 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.8310T>C (p.Tyr2770=) rs750982524 0.00001
NM_004415.4(DSP):c.8330C>A (p.Pro2777His) rs376273136 0.00001
NM_004415.4(DSP):c.8364C>T (p.Ala2788=) rs756256863 0.00001
NM_004415.4(DSP):c.8372G>A (p.Arg2791His) rs749339594 0.00001
NM_004415.4(DSP):c.8389A>G (p.Ile2797Val) rs1040353645 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.844G>A (p.Glu282Lys) rs397516966 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.8495G>T (p.Gly2832Val) rs397516970 0.00001
NM_004415.4(DSP):c.8498C>G (p.Ser2833Cys) rs767961179 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.8566T>A (p.Ser2856Thr) rs148550678 0.00001
NM_004415.4(DSP):c.8580T>C (p.Tyr2860=) rs201441128 0.00001
NM_004415.4(DSP):c.8606T>C (p.Ile2869Thr) rs1759656543 0.00001
NM_004415.4(DSP):c.8610G>A (p.Gly2870=) rs910215418 0.00001
NM_004415.4(DSP):c.867C>T (p.Cys289=) rs397516973 0.00001
NM_004415.4(DSP):c.917C>G (p.Ala306Gly) rs1758833983 0.00001
NM_004415.4(DSP):c.939+19G>T rs777724973 0.00001
NM_004415.4(DSP):c.939+1G>A rs727504443 0.00001
NM_004415.4(DSP):c.940-5C>T rs368391882 0.00001
NM_004415.4(DSP):c.940-9C>T rs1016646349 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.976C>T (p.Leu326Phe) rs117961973 0.00001
NM_004415.4(DSP):c.998G>A (p.Ser333Asn) rs749695729 0.00001
NM_004415.4(DSP):c.9C>T (p.Cys3=) rs769032973 0.00001
NC_000006.11:g.(?_7532151)_(7559633_?)del
NC_000006.11:g.(?_7542149)_(7542338_?)del
NC_000006.11:g.(?_7542149)_(7542338_?)dup
NC_000006.11:g.(?_7542149)_(7586111_?)del
NC_000006.11:g.(?_7552967)_(7579627_?)del
NC_000006.11:g.(?_7565582)_(7568149_?)del
NC_000006.11:g.(?_7565582)_(7569583_?)del
NC_000006.11:g.(?_7567563)_(7584301_?)del
NC_000006.11:g.(?_7576220)_(7581055_?)del
NC_000006.11:g.(?_7579782)_(7581194_?)del
NC_000006.11:g.(?_7582855)_(7586131_?)del
NC_000006.11:g.(?_7582865)_(7586121_?)del
NC_000006.11:g.(?_7583161)_(7587903_?)del
NC_000006.11:g.(?_7583166)_(7587903_?)del
NC_000006.12:g.(?_7570417)_(7585898_?)del
NC_000006.12:g.(?_7570427)_(7585888_?)del
NM_004415.2(DSP):c.2131_2132delAG rs587782927
NM_004415.2(DSP):c.5671_*1792delinsAGAGAAGAACAGTCTT
NM_004415.2(DSP):c.5671_*835+957del4738insAGAACAGTCTT
NM_004415.4(DSP):c.*203A>G rs1198624922
NM_004415.4(DSP):c.*325A>G rs1759669252
NM_004415.4(DSP):c.*43T>A rs373414877
NM_004415.4(DSP):c.*762G>T rs1759684939
NM_004415.4(DSP):c.-104G>A rs1757981061
NM_004415.4(DSP):c.-70C>T rs1757982573
NM_004415.4(DSP):c.-76C>T rs377133467
NM_004415.4(DSP):c.1002C>T (p.Asp334=)
NM_004415.4(DSP):c.1003del (p.Gln335fs) rs2113671104
NM_004415.4(DSP):c.1008T>G (p.Leu336=)
NM_004415.4(DSP):c.1009_1010dup (p.Leu338fs) rs2113671123
NM_004415.4(DSP):c.1010T>C (p.Val337Ala)
NM_004415.4(DSP):c.1021C>G (p.His341Asp)
NM_004415.4(DSP):c.1027G>A (p.Ala343Thr)
NM_004415.4(DSP):c.102C>T (p.Gly34=) rs763785063
NM_004415.4(DSP):c.1042G>T (p.Glu348Ter)
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.1045-1G>C
NM_004415.4(DSP):c.1045-4T>G
NM_004415.4(DSP):c.1045G>C (p.Ala349Pro)
NM_004415.4(DSP):c.1047C>T (p.Ala349=) rs1758892420
NM_004415.4(DSP):c.1049A>G (p.Tyr350Cys) rs1187569405
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.1060_1061del (p.Leu354fs) rs1249913357
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>T (p.Gly36Val)
NM_004415.4(DSP):c.1080G>A (p.Trp360Ter) rs2113672480
NM_004415.4(DSP):c.1084C>T (p.Leu362Phe)
NM_004415.4(DSP):c.1087C>T (p.Gln363Ter) rs778856526
NM_004415.4(DSP):c.1089G>C (p.Gln363His)
NM_004415.4(DSP):c.1092C>T (p.Ile364=)
NM_004415.4(DSP):c.1094C>G (p.Thr365Ser) rs754577019
NM_004415.4(DSP):c.1099_1100del (p.Cys367fs) rs2113672514
NM_004415.4(DSP):c.109A>G (p.Thr37Ala)
NM_004415.4(DSP):c.1100G>A (p.Cys367Tyr)
NM_004415.4(DSP):c.1102A>G (p.Ile368Val) rs794728112
NM_004415.4(DSP):c.110C>G (p.Thr37Ser)
NM_004415.4(DSP):c.1112A>C (p.His371Pro) rs397516912
NM_004415.4(DSP):c.1112A>G (p.His371Arg) rs397516912
NM_004415.4(DSP):c.1112A>T (p.His371Leu)
NM_004415.4(DSP):c.1113T>C (p.His371=)
NM_004415.4(DSP):c.1115T>C (p.Leu372Pro) rs1758895792
NM_004415.4(DSP):c.1119del (p.Glu374fs)
NM_004415.4(DSP):c.111C>A (p.Thr37=) rs727502995
NM_004415.4(DSP):c.1125T>C (p.Asn375=)
NM_004415.4(DSP):c.1126G>C (p.Ala376Pro)
NM_004415.4(DSP):c.1135T>A (p.Phe379Ile) rs757853478
NM_004415.4(DSP):c.1140+14G>C
NM_004415.4(DSP):c.1140+15T>G
NM_004415.4(DSP):c.1140+20A>G rs2113672635
NM_004415.4(DSP):c.1141-12C>T
NM_004415.4(DSP):c.1141-15T>C
NM_004415.4(DSP):c.1141-1G>A rs2113673067
NM_004415.4(DSP):c.1141-2A>G rs794728111
NM_004415.4(DSP):c.1141-8C>A rs1758907949
NM_004415.4(DSP):c.1141-9C>T
NM_004415.4(DSP):c.1142T>C (p.Phe381Ser) rs1209991251
NM_004415.4(DSP):c.1146del (p.Phe382fs) rs397516913
NM_004415.4(DSP):c.1160C>T (p.Ser387Phe)
NM_004415.4(DSP):c.1161T>A (p.Ser387=) rs1758909456
NM_004415.4(DSP):c.1162del (p.Thr388fs) rs1554106742
NM_004415.4(DSP):c.1165G>A (p.Glu389Lys) rs1758909720
NM_004415.4(DSP):c.116G>A (p.Arg39Lys)
NM_004415.4(DSP):c.1179G>A (p.Lys393=)
NM_004415.4(DSP):c.117G>A (p.Arg39=)
NM_004415.4(DSP):c.1180G>A (p.Gly394Arg) rs769054351
NM_004415.4(DSP):c.1181G>C (p.Gly394Ala)
NM_004415.4(DSP):c.1182G>T (p.Gly394=)
NM_004415.4(DSP):c.1182del (p.Leu395fs) rs1554106743
NM_004415.4(DSP):c.1184T>C (p.Leu395Pro)
NM_004415.4(DSP):c.1186del (p.Gln396fs) rs2113673178
NM_004415.4(DSP):c.1187A>C (p.Gln396Pro)
NM_004415.4(DSP):c.11A>G (p.Asn4Ser)
NM_004415.4(DSP):c.1201A>G (p.Lys401Glu)
NM_004415.4(DSP):c.1209C>A (p.Tyr403Ter) rs2113673248
NM_004415.4(DSP):c.1209C>G (p.Tyr403Ter)
NM_004415.4(DSP):c.1215C>A (p.Cys405Ter)
NM_004415.4(DSP):c.1216G>A (p.Asp406Asn) rs1758911711
NM_004415.4(DSP):c.1222A>G (p.Asn408Asp) rs142129767
NM_004415.4(DSP):c.1232T>C (p.Leu411Pro)
NM_004415.4(DSP):c.1232del (p.Leu411fs)
NM_004415.4(DSP):c.1234C>T (p.Gln412Ter) rs1758912749
NM_004415.4(DSP):c.123C>G (p.Tyr41Ter) rs1057523045
NM_004415.4(DSP):c.123_125dup (p.Tyr42_Ser43insTyr)
NM_004415.4(DSP):c.1240C>G (p.Leu414Val) rs1758912999
NM_004415.4(DSP):c.1240C>T (p.Leu414=)
NM_004415.4(DSP):c.1248A>G (p.Glu416=) rs1554106751
NM_004415.4(DSP):c.1249C>T (p.Gln417Ter)
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.1266+6G>T rs73375345
NM_004415.4(DSP):c.1266G>A (p.Glu422=)
NM_004415.4(DSP):c.1266G>C (p.Glu422Asp) rs1758913797
NM_004415.4(DSP):c.1267-10A>C rs2113674080
NM_004415.4(DSP):c.1267-13T>C
NM_004415.4(DSP):c.1267-20G>A
NM_004415.4(DSP):c.1267-2A>G rs1554106830
NM_004415.4(DSP):c.1269A>C (p.Lys423Asn)
NM_004415.4(DSP):c.1273C>T (p.Arg425Ter) rs397516915
NM_004415.4(DSP):c.1274G>T (p.Arg425Leu) rs397516916
NM_004415.4(DSP):c.1276G>T (p.Glu426Ter)
NM_004415.4(DSP):c.1282A>G (p.Ile428Val)
NM_004415.4(DSP):c.1282dup (p.Ile428fs) rs1561687796
NM_004415.4(DSP):c.1288G>A (p.Glu430Lys)
NM_004415.4(DSP):c.1288G>T (p.Glu430Ter) rs761380979
NM_004415.4(DSP):c.1293del (p.Glu430_Tyr431insTer) rs2113674180
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.1302G>A (p.Gln434=)
NM_004415.4(DSP):c.1303G>A (p.Val435Met)
NM_004415.4(DSP):c.1304_1305dup (p.Gln436fs)
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.1329G>A (p.Lys443=) rs767785995
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.1333A>G (p.Ile445Val)
NM_004415.4(DSP):c.1335T>G (p.Ile445Met) rs898213877
NM_004415.4(DSP):c.1339C>T (p.Gln447Ter) rs2113674300
NM_004415.4(DSP):c.133C>T (p.Arg45Cys)
NM_004415.4(DSP):c.1350_1351insTTA (p.Pro450_Arg451insLeu) rs1581802595
NM_004415.4(DSP):c.1351C>G (p.Arg451Gly) rs1057518309
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.1356C>T (p.Asn452=) rs1187261274
NM_004415.4(DSP):c.1357C>A (p.Pro453Thr)
NM_004415.4(DSP):c.1359A>G (p.Pro453=)
NM_004415.4(DSP):c.135C>T (p.Arg45=)
NM_004415.4(DSP):c.1362C>T (p.Asp454=) rs778044416
NM_004415.4(DSP):c.1366A>C (p.Arg456=)
NM_004415.4(DSP):c.1372A>T (p.Asn458Tyr)
NM_004415.4(DSP):c.1378C>T (p.Pro460Ser)
NM_004415.4(DSP):c.1379C>T (p.Pro460Leu) rs757300149
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.1386_1389del (p.Leu463fs)
NM_004415.4(DSP):c.138C>T (p.Gly46=)
NM_004415.4(DSP):c.1392A>C (p.Arg464Ser) rs1403332231
NM_004415.4(DSP):c.1395T>C (p.Ala465=) rs778926592
NM_004415.4(DSP):c.1395T>G (p.Ala465=)
NM_004415.4(DSP):c.1396C>T (p.Leu466Phe)
NM_004415.4(DSP):c.1397T>C (p.Leu466Pro) rs727504661
NM_004415.4(DSP):c.1398C>G (p.Leu466=) rs1465847887
NM_004415.4(DSP):c.1404C>T (p.Asp468=)
NM_004415.4(DSP):c.1411_1412insT (p.Gln471fs) rs1581802715
NM_004415.4(DSP):c.1414G>A (p.Asp472Asn) rs2113674467
NM_004415.4(DSP):c.1419+17A>G
NM_004415.4(DSP):c.1419G>T (p.Gln473His)
NM_004415.4(DSP):c.1420-13G>T
NM_004415.4(DSP):c.1420-1G>A
NM_004415.4(DSP):c.1420-1G>T rs1060500609
NM_004415.4(DSP):c.1420-2A>G
NM_004415.4(DSP):c.1420-3C>T rs786204296
NM_004415.4(DSP):c.1420-9G>C rs1758956235
NM_004415.4(DSP):c.1425C>G (p.Ile475Met)
NM_004415.4(DSP):c.1425C>T (p.Ile475=) rs1329910838
NM_004415.4(DSP):c.1426G>A (p.Val476Met) rs367987327
NM_004415.4(DSP):c.1428G>A (p.Val476=)
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.1437G>A (p.Gly479=)
NM_004415.4(DSP):c.1438dup (p.Asp480fs)
NM_004415.4(DSP):c.1439del (p.Asp480fs) rs2113675360
NM_004415.4(DSP):c.1441G>A (p.Glu481Lys) rs1758958794
NM_004415.4(DSP):c.1441G>T (p.Glu481Ter)
NM_004415.4(DSP):c.1444T>C (p.Cys482Arg) rs746816016
NM_004415.4(DSP):c.1445G>A (p.Cys482Tyr) rs1472091469
NM_004415.4(DSP):c.1445_1446del (p.Cys482fs)
NM_004415.4(DSP):c.1449C>A (p.Ile483=) rs1758959651
NM_004415.4(DSP):c.1449C>T (p.Ile483=)
NM_004415.4(DSP):c.144C>T (p.Ile48=)
NM_004415.4(DSP):c.1455G>A (p.Lys485=)
NM_004415.4(DSP):c.1458C>T (p.Asp486=)
NM_004415.4(DSP):c.1460A>G (p.Asn487Ser)
NM_004415.4(DSP):c.1464C>T (p.Asn488=) rs768526275
NM_004415.4(DSP):c.1467G>A (p.Glu489=)
NM_004415.4(DSP):c.146C>T (p.Thr49Ile) rs151153655
NM_004415.4(DSP):c.1475A>G (p.Lys492Arg)
NM_004415.4(DSP):c.1476G>A (p.Lys492=) rs2113675467
NM_004415.4(DSP):c.1478G>A (p.Trp493Ter)
NM_004415.4(DSP):c.1479G>A (p.Trp493Ter) rs1758962311
NM_004415.4(DSP):c.1482C>A (p.Tyr494Ter)
NM_004415.4(DSP):c.1483G>T (p.Val495Leu) rs372014020
NM_004415.4(DSP):c.1483_1485delinsTTT (p.Val495Phe) rs1064795582
NM_004415.4(DSP):c.1484T>G (p.Val495Gly) rs727504518
NM_004415.4(DSP):c.1485G>T (p.Val495=) rs2113675497
NM_004415.4(DSP):c.1487C>G (p.Thr496Arg) rs374283517
NM_004415.4(DSP):c.1489G>A (p.Gly497Ser)
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.1497A>G (p.Gly499=) rs1581803484
NM_004415.4(DSP):c.14G>C (p.Gly5Ala) rs1757989474
NM_004415.4(DSP):c.1500C>T (p.Gly500=) rs762086998
NM_004415.4(DSP):c.1502T>A (p.Val501Asp)
NM_004415.4(DSP):c.1504G>A (p.Asp502Asn) rs750547425
NM_004415.4(DSP):c.1506C>T (p.Asp502=)
NM_004415.4(DSP):c.1509G>A (p.Met503Ile)
NM_004415.4(DSP):c.1513G>A (p.Val505Ile)
NM_004415.4(DSP):c.151C>T (p.Gln51Ter) rs794728156
NM_004415.4(DSP):c.1523_1524del (p.Val508fs)
NM_004415.4(DSP):c.1524G>C (p.Val508=) rs2113675631
NM_004415.4(DSP):c.1527G>T (p.Gly509=) rs397516917
NM_004415.4(DSP):c.1529T>C (p.Leu510Pro) rs2113675644
NM_004415.4(DSP):c.1542T>A (p.Pro514=) rs1554106920
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>A (p.Val520Met)
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+12A>C rs777035331
NM_004415.4(DSP):c.1574+12A>G
NM_004415.4(DSP):c.1574+16T>C
NM_004415.4(DSP):c.1574+1G>A rs1758971797
NM_004415.4(DSP):c.1574+1G>C rs1758971797
NM_004415.4(DSP):c.1574+20A>G rs1190197652
NM_004415.4(DSP):c.1574+5G>A rs2113675801
NM_004415.4(DSP):c.1574A>C (p.Lys525Thr)
NM_004415.4(DSP):c.1574A>G (p.Lys525Arg)
NM_004415.4(DSP):c.1575-17C>T
NM_004415.4(DSP):c.1575-4T>G rs745353405
NM_004415.4(DSP):c.1575-4_1575-3del rs1759008080
NM_004415.4(DSP):c.1575-9G>T
NM_004415.4(DSP):c.1577T>C (p.Ile526Thr) rs1561689358
NM_004415.4(DSP):c.157T>C (p.Ser53Pro) rs397516918
NM_004415.4(DSP):c.157T>G (p.Ser53Ala) rs397516918
NM_004415.4(DSP):c.1582del (p.Gln528fs) rs2113677263
NM_004415.4(DSP):c.1587C>T (p.Tyr529=) rs2113677271
NM_004415.4(DSP):c.158C>T (p.Ser53Leu) rs1398517175
NM_004415.4(DSP):c.1593A>G (p.Glu531=)
NM_004415.4(DSP):c.1596C>T (p.Ala532=)
NM_004415.4(DSP):c.159G>A (p.Ser53=)
NM_004415.4(DSP):c.1603G>C (p.Ala535Pro) rs777088675
NM_004415.4(DSP):c.1609_1610del (p.Trp537fs)
NM_004415.4(DSP):c.1611G>A (p.Trp537Ter) rs794728114
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.162C>T (p.Asp54=) rs1057113375
NM_004415.4(DSP):c.1639C>T (p.Leu547=)
NM_004415.4(DSP):c.1644G>A (p.Val548=)
NM_004415.4(DSP):c.1653C>G (p.His551Gln)
NM_004415.4(DSP):c.1656C>G (p.Tyr552Ter) rs1759011966
NM_004415.4(DSP):c.1659C>T (p.Cys553=)
NM_004415.4(DSP):c.1660A>G (p.Met554Val)
NM_004415.4(DSP):c.1665T>C (p.Ile555=)
NM_004415.4(DSP):c.1670T>C (p.Ile557Thr) rs1759012793
NM_004415.4(DSP):c.1675A>G (p.Lys559Glu)
NM_004415.4(DSP):c.167A>G (p.Tyr56Cys)
NM_004415.4(DSP):c.1680C>T (p.Ile560=) rs397516920
NM_004415.4(DSP):c.1680del (p.Arg561fs)
NM_004415.4(DSP):c.1691C>T (p.Thr564Ile) rs606231295
NM_004415.4(DSP):c.169T>C (p.Cys57Arg)
NM_004415.4(DSP):c.169_170+13del rs2113629234
NM_004415.4(DSP):c.170+10T>C
NM_004415.4(DSP):c.170+11G>T rs727505007
NM_004415.4(DSP):c.170+12C>A
NM_004415.4(DSP):c.170+13C>T
NM_004415.4(DSP):c.170+14C>G
NM_004415.4(DSP):c.170+14C>T
NM_004415.4(DSP):c.170+15G>A
NM_004415.4(DSP):c.170+18G>A
NM_004415.4(DSP):c.170+19A>G
NM_004415.4(DSP):c.170+1G>A rs1309931610
NM_004415.4(DSP):c.170+1dup
NM_004415.4(DSP):c.170+2341A>G
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.170+7A>G
NM_004415.4(DSP):c.1700A>G (p.Lys567Arg) rs2113677553
NM_004415.4(DSP):c.1701+16C>T
NM_004415.4(DSP):c.1701+18C>G rs2113677592
NM_004415.4(DSP):c.1701+2T>A
NM_004415.4(DSP):c.1701+2T>C
NM_004415.4(DSP):c.1701+7C>A
NM_004415.4(DSP):c.1701G>A (p.Lys567=)
NM_004415.4(DSP):c.1702-12G>A rs1759045119
NM_004415.4(DSP):c.1702-13T>A rs771235236
NM_004415.4(DSP):c.1702-16G>A
NM_004415.4(DSP):c.1702-16_1702-15delinsCT
NM_004415.4(DSP):c.1702-1G>T
NM_004415.4(DSP):c.1702-7C>G
NM_004415.4(DSP):c.1702-7_1702-3del
NM_004415.4(DSP):c.1708del (p.Thr570fs)
NM_004415.4(DSP):c.171-3dup rs1554105600
NM_004415.4(DSP):c.171-5C>G
NM_004415.4(DSP):c.171-5C>T
NM_004415.4(DSP):c.1710A>C (p.Thr570=) rs1429455523
NM_004415.4(DSP):c.1710_1711del (p.Met571fs) rs2113678808
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.1736C>T (p.Thr579Met)
NM_004415.4(DSP):c.1737G>T (p.Thr579=) rs150734502
NM_004415.4(DSP):c.1737_1738delinsTT (p.Ile580Leu)
NM_004415.4(DSP):c.1743C>A (p.Ala581=) rs139095230
NM_004415.4(DSP):c.1749T>G (p.Leu583=) rs1060503981
NM_004415.4(DSP):c.1755dup (p.His586fs)
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.177C>T (p.Thr59=) rs376873185
NM_004415.4(DSP):c.1783C>T (p.Gln595Ter)
NM_004415.4(DSP):c.1788C>G (p.Gly596=) rs2113679013
NM_004415.4(DSP):c.1789T>C (p.Ser597Pro)
NM_004415.4(DSP):c.178G>A (p.Gly60Ser) rs982933033
NM_004415.4(DSP):c.1790C>T (p.Ser597Leu) rs606231294
NM_004415.4(DSP):c.1794G>A (p.Glu598=)
NM_004415.4(DSP):c.17G>C (p.Gly6Ala) rs1339636876
NM_004415.4(DSP):c.1806T>C (p.Asp602=) rs560969680
NM_004415.4(DSP):c.1815_1820dup (p.Lys607_Ile608insArgLys)
NM_004415.4(DSP):c.1816C>A (p.Arg606=) rs372467697
NM_004415.4(DSP):c.1817G>A (p.Arg606Gln) rs576661499
NM_004415.4(DSP):c.1825C>T (p.Gln609Ter) rs1561690319
NM_004415.4(DSP):c.1831C>T (p.Gln611Ter) rs1581805788
NM_004415.4(DSP):c.1846C>T (p.Gln616Ter)
NM_004415.4(DSP):c.1847A>G (p.Gln616Arg)
NM_004415.4(DSP):c.1848G>A (p.Gln616=) rs1215425090
NM_004415.4(DSP):c.184A>T (p.Met62Leu)
NM_004415.4(DSP):c.1851G>A (p.Lys617=) rs1759052144
NM_004415.4(DSP):c.1852C>T (p.His618Tyr)
NM_004415.4(DSP):c.1853A>C (p.His618Pro) rs1554107096
NM_004415.4(DSP):c.1855T>C (p.Tyr619His)
NM_004415.4(DSP):c.1857C>A (p.Tyr619Ter) rs1554107097
NM_004415.4(DSP):c.1865T>C (p.Leu622Pro) rs1554107098
NM_004415.4(DSP):c.1865T>G (p.Leu622Arg) rs1554107098
NM_004415.4(DSP):c.1869C>T (p.Val623=)
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.1873C>T (p.Gln625Ter) rs876657638
NM_004415.4(DSP):c.1880C>T (p.Pro627Leu) rs2113679213
NM_004415.4(DSP):c.1883del (p.Gly628fs) rs1060500613
NM_004415.4(DSP):c.1897C>T (p.Gln633Ter) rs1464886350
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+12A>T
NM_004415.4(DSP):c.1903+15T>C
NM_004415.4(DSP):c.1903+17T>C
NM_004415.4(DSP):c.1903+1G>T
NM_004415.4(DSP):c.1903+3C>T rs754326012
NM_004415.4(DSP):c.1903+3del rs1064793548
NM_004415.4(DSP):c.1903+5G>T
NM_004415.4(DSP):c.1904-19C>A
NM_004415.4(DSP):c.1904-20G>T
NM_004415.4(DSP):c.1904-2A>G rs2113679702
NM_004415.4(DSP):c.1904-4A>G
NM_004415.4(DSP):c.1904-9T>C
NM_004415.4(DSP):c.1904T>C (p.Val635Ala)
NM_004415.4(DSP):c.1908C>T (p.Thr636=)
NM_004415.4(DSP):c.1913C>T (p.Thr638Ile)
NM_004415.4(DSP):c.1914T>C (p.Thr638=)
NM_004415.4(DSP):c.1919T>C (p.Ile640Thr) rs1407036854
NM_004415.4(DSP):c.1923T>A (p.Thr641=)
NM_004415.4(DSP):c.192G>A (p.Arg64=) rs908789038
NM_004415.4(DSP):c.1938C>T (p.Cys646=) rs1759064440
NM_004415.4(DSP):c.1941dup (p.Asp648fs) rs2113679761
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.1954A>T (p.Asn652Tyr)
NM_004415.4(DSP):c.1963A>G (p.Ile655Val)
NM_004415.4(DSP):c.1964T>A (p.Ile655Asn)
NM_004415.4(DSP):c.1965T>C (p.Ile655=)
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.1971C>G (p.Thr657=) rs2113679874
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.1978_1979del (p.Glu660fs)
NM_004415.4(DSP):c.1985A>G (p.Asp662Gly)
NM_004415.4(DSP):c.1988_1998del (p.Lys663fs)
NM_004415.4(DSP):c.1993G>A (p.Glu665Lys) rs2113679925
NM_004415.4(DSP):c.1996A>G (p.Thr666Ala)
NM_004415.4(DSP):c.1997C>T (p.Thr666Ile) rs200053977
NM_004415.4(DSP):c.1998A>G (p.Thr666=)
NM_004415.4(DSP):c.2000G>A (p.Trp667Ter) rs760214732
NM_004415.4(DSP):c.2002A>T (p.Met668Leu)
NM_004415.4(DSP):c.2006T>C (p.Leu669Pro)
NM_004415.4(DSP):c.2011G>T (p.Glu671Ter) rs2113679972
NM_004415.4(DSP):c.2012A>G (p.Glu671Gly) rs758530970
NM_004415.4(DSP):c.2016G>A (p.Leu672=) rs1282905209
NM_004415.4(DSP):c.201C>A (p.Asn67Lys)
NM_004415.4(DSP):c.2023A>T (p.Ile675Phe) rs142619902
NM_004415.4(DSP):c.202C>T (p.Gln68Ter)
NM_004415.4(DSP):c.2033A>G (p.Gln678Arg)
NM_004415.4(DSP):c.2035_2037del (p.Ile679del)
NM_004415.4(DSP):c.2040G>A (p.Glu680=)
NM_004415.4(DSP):c.2040_2043del (p.Glu680fs)
NM_004415.4(DSP):c.2042A>G (p.His681Arg)
NM_004415.4(DSP):c.2047G>C (p.Glu683Gln)
NM_004415.4(DSP):c.2049G>A (p.Glu683=) rs2113680102
NM_004415.4(DSP):c.204G>A (p.Gln68=)
NM_004415.4(DSP):c.2050G>T (p.Gly684Cys) rs1759071281
NM_004415.4(DSP):c.2055G>T (p.Arg685Ser)
NM_004415.4(DSP):c.2059A>T (p.Thr687Ser)
NM_004415.4(DSP):c.2060del (p.Thr687fs) rs2113680129
NM_004415.4(DSP):c.2061T>A (p.Thr687=)
NM_004415.4(DSP):c.2061T>C (p.Thr687=)
NM_004415.4(DSP):c.2068_2069del (p.Asn690fs)
NM_004415.4(DSP):c.2074C>G (p.Pro692Ala)
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.2086C>T (p.Gln696Ter)
NM_004415.4(DSP):c.2086del (p.Gln696fs)
NM_004415.4(DSP):c.208A>G (p.Thr70Ala) rs1442496444
NM_004415.4(DSP):c.2091A>T (p.Gly697=) rs2076304
NM_004415.4(DSP):c.2097T>C (p.Ser699=) rs2113680246
NM_004415.4(DSP):c.2099A>G (p.His700Arg)
NM_004415.4(DSP):c.20C>T (p.Ser7Phe)
NM_004415.4(DSP):c.2103C>T (p.His701=)
NM_004415.4(DSP):c.2107A>G (p.Thr703Ala)
NM_004415.4(DSP):c.2109A>G (p.Thr703=) rs1351265258
NM_004415.4(DSP):c.2119A>G (p.Asn707Asp) rs756272327
NM_004415.4(DSP):c.2124G>T (p.Glu708Asp) rs1759074309
NM_004415.4(DSP):c.2130+11G>A
NM_004415.4(DSP):c.2130+12C>T
NM_004415.4(DSP):c.2130+14A>G
NM_004415.4(DSP):c.2130+1G>A rs727505115
NM_004415.4(DSP):c.2130+7A>G rs1759074833
NM_004415.4(DSP):c.2131-20C>T
NM_004415.4(DSP):c.2135T>C (p.Val712Ala) rs2113682966
NM_004415.4(DSP):c.2139G>T (p.Gln713His)
NM_004415.4(DSP):c.2143G>T (p.Asp715Tyr)
NM_004415.4(DSP):c.2146T>G (p.Ser716Ala) rs1759149630
NM_004415.4(DSP):c.2149del (p.Gln717fs) rs2113682999
NM_004415.4(DSP):c.214C>T (p.Gln72Ter) rs397516923
NM_004415.4(DSP):c.2153C>T (p.Ala718Val) rs764290255
NM_004415.4(DSP):c.2156T>C (p.Ile719Thr)
NM_004415.4(DSP):c.2157T>C (p.Ile719=)
NM_004415.4(DSP):c.2159C>G (p.Ala720Gly) rs1261146655
NM_004415.4(DSP):c.2161G>A (p.Glu721Lys) rs963374775
NM_004415.4(DSP):c.2161G>T (p.Glu721Ter)
NM_004415.4(DSP):c.2164G>T (p.Val722Phe) rs1581808686
NM_004415.4(DSP):c.2166del (p.Leu723fs)
NM_004415.4(DSP):c.2173C>A (p.Gln725Lys)
NM_004415.4(DSP):c.2176C>G (p.Leu726Val) rs1759151851
NM_004415.4(DSP):c.2177T>C (p.Leu726Pro)
NM_004415.4(DSP):c.2178T>C (p.Leu726=) rs2113683095
NM_004415.4(DSP):c.2179A>T (p.Lys727Ter)
NM_004415.4(DSP):c.2181dup (p.Asp728fs)
NM_004415.4(DSP):c.2184T>C (p.Asp728=) rs750383681
NM_004415.4(DSP):c.2185_2186del (p.Met729fs)
NM_004415.4(DSP):c.2185dup (p.Met729fs) rs2113683109
NM_004415.4(DSP):c.2188C>T (p.Leu730Phe) rs2113683126
NM_004415.4(DSP):c.2190T>C (p.Leu730=)
NM_004415.4(DSP):c.2193C>A (p.Ala731=)
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.219G>A (p.Glu73=)
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.2208T>C (p.Ser736=) rs2113683195
NM_004415.4(DSP):c.2214G>A (p.Lys738=)
NM_004415.4(DSP):c.2220C>T (p.Cys740=)
NM_004415.4(DSP):c.2223T>G (p.Tyr741Ter) rs2113683217
NM_004415.4(DSP):c.2227C>T (p.Gln743Ter)
NM_004415.4(DSP):c.2234A>C (p.Glu745Ala) rs969462343
NM_004415.4(DSP):c.2236del (p.Val746fs) rs1759155407
NM_004415.4(DSP):c.2241del (p.Phe747fs)
NM_004415.4(DSP):c.2247A>C (p.Leu749=) rs28763963
NM_004415.4(DSP):c.2250T>G (p.Phe750Leu)
NM_004415.4(DSP):c.2259G>A (p.Leu753=) rs1759156637
NM_004415.4(DSP):c.225G>A (p.Leu75=) rs2113653867
NM_004415.4(DSP):c.2264A>G (p.Asn755Ser)
NM_004415.4(DSP):c.2268C>T (p.Ile756=)
NM_004415.4(DSP):c.2275G>T (p.Val759Phe)
NM_004415.4(DSP):c.2276_2277insA (p.Thr760fs)
NM_004415.4(DSP):c.2278A>T (p.Thr760Ser)
NM_004415.4(DSP):c.2278dup (p.Thr760fs)
NM_004415.4(DSP):c.227A>G (p.Gln76Arg) rs1581790962
NM_004415.4(DSP):c.2280A>G (p.Thr760=) rs1375561193
NM_004415.4(DSP):c.2297+11C>T
NM_004415.4(DSP):c.2297+14A>C rs1057520278
NM_004415.4(DSP):c.2297+15C>T
NM_004415.4(DSP):c.2297+1G>A rs1057523629
NM_004415.4(DSP):c.2297+2T>C rs796218194
NM_004415.4(DSP):c.2297+5A>G
NM_004415.4(DSP):c.2298-10C>T rs1057522919
NM_004415.4(DSP):c.2298-15T>C rs2113683947
NM_004415.4(DSP):c.2298-1G>C rs1417627909
NM_004415.4(DSP):c.2298-2A>C rs1759176299
NM_004415.4(DSP):c.2298-5T>C rs969832224
NM_004415.4(DSP):c.2298-8C>T rs2113683961
NM_004415.4(DSP):c.2301A>C (p.Leu767Phe) rs1759176601
NM_004415.4(DSP):c.2302T>C (p.Cys768Arg)
NM_004415.4(DSP):c.2304C>T (p.Cys768=) rs1441887959
NM_004415.4(DSP):c.2311del (p.Arg771fs)
NM_004415.4(DSP):c.2313G>A (p.Arg771=)
NM_004415.4(DSP):c.2314G>C (p.Ala772Pro) rs766440842
NM_004415.4(DSP):c.2317C>G (p.Leu773Val)
NM_004415.4(DSP):c.231C>T (p.Asn77=)
NM_004415.4(DSP):c.2321T>A (p.Leu774His)
NM_004415.4(DSP):c.2322C>T (p.Leu774=)
NM_004415.4(DSP):c.2323C>T (p.Gln775Ter) rs1581809567
NM_004415.4(DSP):c.2327C>G (p.Ala776Gly) rs201700546
NM_004415.4(DSP):c.2328T>G (p.Ala776=) rs2113684036
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.2340A>G (p.Thr780=)
NM_004415.4(DSP):c.2344G>T (p.Asp782Tyr) rs2113684062
NM_004415.4(DSP):c.234C>T (p.Cys78=)
NM_004415.4(DSP):c.2351T>A (p.Leu784Ter) rs2113684096
NM_004415.4(DSP):c.2359del (p.Tyr787fs)
NM_004415.4(DSP):c.2360A>C (p.Tyr787Ser) rs778350289
NM_004415.4(DSP):c.2369G>A (p.Arg790Lys)
NM_004415.4(DSP):c.2379G>A (p.Glu793=)
NM_004415.4(DSP):c.2385A>G (p.Glu795=)
NM_004415.4(DSP):c.2386A>G (p.Thr796Ala) rs1554107526
NM_004415.4(DSP):c.2388T>A (p.Thr796=)
NM_004415.4(DSP):c.2388T>C (p.Thr796=) rs2113684215
NM_004415.4(DSP):c.238G>A (p.Asp80Asn) rs1453492594
NM_004415.4(DSP):c.2390_2393del (p.Val797fs) rs754566092
NM_004415.4(DSP):c.239A>G (p.Asp80Gly)
NM_004415.4(DSP):c.2400C>T (p.Asp800=)
NM_004415.4(DSP):c.2403G>A (p.Leu801=) rs1759182985
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.2412G>A (p.Val804=) rs773330932
NM_004415.4(DSP):c.2418T>C (p.Ala806=) rs1759183681
NM_004415.4(DSP):c.2421C>T (p.Tyr807=) rs2113684259
NM_004415.4(DSP):c.2424C>G (p.Arg808=)
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+10A>G rs1759184963
NM_004415.4(DSP):c.2436+11A>C rs1759185037
NM_004415.4(DSP):c.2436+13C>T
NM_004415.4(DSP):c.2436+16A>C
NM_004415.4(DSP):c.2436+16A>G rs199555263
NM_004415.4(DSP):c.2436+16A>T rs199555263
NM_004415.4(DSP):c.2436+1G>A rs2113684305
NM_004415.4(DSP):c.2436+6T>C
NM_004415.4(DSP):c.2436G>A (p.Lys812=)
NM_004415.4(DSP):c.2437-10C>T rs749486113
NM_004415.4(DSP):c.2437-10del rs746870396
NM_004415.4(DSP):c.2437-12_2437-11del rs727502998
NM_004415.4(DSP):c.2437-1G>C rs1057517903
NM_004415.4(DSP):c.2437-6T>C rs2113684940
NM_004415.4(DSP):c.2437-7C>T rs1424310426
NM_004415.4(DSP):c.2437-9A>G
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.243_251del (p.Cys81_Arg84delinsTer) rs794728135
NM_004415.4(DSP):c.2441T>C (p.Ile814Thr) rs1393048121
NM_004415.4(DSP):c.2442A>C (p.Ile814=)
NM_004415.4(DSP):c.2451C>T (p.Asp817=)
NM_004415.4(DSP):c.2454G>A (p.Leu818=)
NM_004415.4(DSP):c.2464A>C (p.Lys822Gln)
NM_004415.4(DSP):c.2466G>A (p.Lys822=) rs1379441574
NM_004415.4(DSP):c.2479A>G (p.Thr827Ala)
NM_004415.4(DSP):c.247_248del (p.Met83fs)
NM_004415.4(DSP):c.2481T>C (p.Thr827=)
NM_004415.4(DSP):c.2487G>A (p.Lys829=)
NM_004415.4(DSP):c.2489C>T (p.Thr830Ile)
NM_004415.4(DSP):c.248T>C (p.Met83Thr) rs2113653951
NM_004415.4(DSP):c.2490A>C (p.Thr830=) rs2113685097
NM_004415.4(DSP):c.2491G>A (p.Glu831Lys)
NM_004415.4(DSP):c.2497C>T (p.Gln833Ter) rs1561693779
NM_004415.4(DSP):c.2498dup (p.Lys834fs) rs1759204244
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>A (p.Arg84=)
NM_004415.4(DSP):c.250C>G (p.Arg84Gly) rs768521444
NM_004415.4(DSP):c.250C>T (p.Arg84Ter) rs768521444
NM_004415.4(DSP):c.2511G>C (p.Gln837His) rs2113685122
NM_004415.4(DSP):c.2521C>T (p.Gln841Ter)
NM_004415.4(DSP):c.2525C>G (p.Thr842Ser)
NM_004415.4(DSP):c.2528C>G (p.Ser843Ter)
NM_004415.4(DSP):c.2530C>T (p.Gln844Ter)
NM_004415.4(DSP):c.2533C>T (p.Gln845Ter) rs2113685159
NM_004415.4(DSP):c.2538T>A (p.Tyr846Ter)
NM_004415.4(DSP):c.2538T>C (p.Tyr846=) rs765837163
NM_004415.4(DSP):c.2540C>G (p.Pro847Arg) rs727504657
NM_004415.4(DSP):c.2543T>C (p.Leu848Pro)
NM_004415.4(DSP):c.2548G>A (p.Asp850Asn) rs1554107626
NM_004415.4(DSP):c.2553G>A (p.Leu851=)
NM_004415.4(DSP):c.2553G>T (p.Leu851=) rs2113685231
NM_004415.4(DSP):c.2555A>G (p.Asp852Gly) rs1561693903
NM_004415.4(DSP):c.2564A>T (p.Lys855Met) rs2113685253
NM_004415.4(DSP):c.2567T>C (p.Phe856Ser)
NM_004415.4(DSP):c.2570G>A (p.Gly857Asp)
NM_004415.4(DSP):c.2571T>A (p.Gly857=) rs1216646957
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.2589G>A (p.Leu863=)
NM_004415.4(DSP):c.2596C>A (p.Arg866Ser) rs142429411
NM_004415.4(DSP):c.2597G>C (p.Arg866Pro)
NM_004415.4(DSP):c.2597G>T (p.Arg866Leu)
NM_004415.4(DSP):c.2601G>A (p.Trp867Ter)
NM_004415.4(DSP):c.2602C>T (p.Gln868Ter) rs1060500618
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.2616dup (p.Gln873fs)
NM_004415.4(DSP):c.2617C>T (p.Gln873Ter) rs794728118
NM_004415.4(DSP):c.2620A>T (p.Ile874Phe) rs1759212430
NM_004415.4(DSP):c.2622C>A (p.Ile874=) rs751067479
NM_004415.4(DSP):c.2622C>T (p.Ile874=)
NM_004415.4(DSP):c.2623G>A (p.Asp875Asn) rs200338012
NM_004415.4(DSP):c.2628T>G (p.Phe876Leu)
NM_004415.4(DSP):c.262A>G (p.Ile88Val) rs1581791030
NM_004415.4(DSP):c.2630+10C>T rs757717367
NM_004415.4(DSP):c.2630+15_2630+17del
NM_004415.4(DSP):c.2630+17C>A
NM_004415.4(DSP):c.2630+18C>A
NM_004415.4(DSP):c.2630+3A>C
NM_004415.4(DSP):c.2630+5G>C
NM_004415.4(DSP):c.2630+7C>T
NM_004415.4(DSP):c.2631-10T>A rs369840498
NM_004415.4(DSP):c.2631-10T>C
NM_004415.4(DSP):c.2631-12A>G
NM_004415.4(DSP):c.2631-13dup rs1455610668
NM_004415.4(DSP):c.2631-14C>G
NM_004415.4(DSP):c.2631-14C>T rs1050258732
NM_004415.4(DSP):c.2631-14del
NM_004415.4(DSP):c.2631-15T>C
NM_004415.4(DSP):c.2631-16A>G rs1362454930
NM_004415.4(DSP):c.2631-18G>T
NM_004415.4(DSP):c.2631-19T>G
NM_004415.4(DSP):c.2631-3C>T rs1041054817
NM_004415.4(DSP):c.2631-3dup rs1759237078
NM_004415.4(DSP):c.2631-4C>G rs1581811524
NM_004415.4(DSP):c.2631-6C>G rs1759237205
NM_004415.4(DSP):c.2631-6C>T
NM_004415.4(DSP):c.2631-8C>A
NM_004415.4(DSP):c.2631-8C>T
NM_004415.4(DSP):c.2631-9T>C
NM_004415.4(DSP):c.2637G>A (p.Trp879Ter) rs2113686447
NM_004415.4(DSP):c.2643G>A (p.Leu881=) rs1057520546
NM_004415.4(DSP):c.2644G>T (p.Glu882Ter) rs730880081
NM_004415.4(DSP):c.2650C>G (p.Gln884Glu)
NM_004415.4(DSP):c.2650C>T (p.Gln884Ter) rs2113686466
NM_004415.4(DSP):c.2652_2653del (p.Gln884fs)
NM_004415.4(DSP):c.2655C>A (p.Ile885=)
NM_004415.4(DSP):c.2655del (p.Lys886fs) rs2113686478
NM_004415.4(DSP):c.2662T>C (p.Leu888=) rs994415126
NM_004415.4(DSP):c.2665A>G (p.Arg889Gly)
NM_004415.4(DSP):c.2680A>T (p.Asn894Tyr) rs1060500614
NM_004415.4(DSP):c.2685T>C (p.Tyr895=) rs2113686561
NM_004415.4(DSP):c.2695T>C (p.Cys899Arg) rs2113686590
NM_004415.4(DSP):c.2700G>A (p.Lys900=) rs2113686599
NM_004415.4(DSP):c.2700G>T (p.Lys900Asn)
NM_004415.4(DSP):c.2703G>A (p.Trp901Ter)
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.2712T>C (p.Asp904=)
NM_004415.4(DSP):c.2719C>A (p.Arg907Ser) rs749051278
NM_004415.4(DSP):c.2723G>T (p.Arg908Leu) rs142494121
NM_004415.4(DSP):c.2725C>T (p.Gln909Ter) rs1561694696
NM_004415.4(DSP):c.273+10_273+11insGTGCAG
NM_004415.4(DSP):c.273+12C>G
NM_004415.4(DSP):c.273+13T>C
NM_004415.4(DSP):c.273+14G>A rs1460404348
NM_004415.4(DSP):c.273+1G>A rs794728106
NM_004415.4(DSP):c.273+20A>G
NM_004415.4(DSP):c.273+7_273+8insC
NM_004415.4(DSP):c.273+8T>A
NM_004415.4(DSP):c.2735T>A (p.Leu912Ter)
NM_004415.4(DSP):c.2735dup (p.Leu912fs)
NM_004415.4(DSP):c.274-10T>C
NM_004415.4(DSP):c.274-13T>C
NM_004415.4(DSP):c.274-18G>C
NM_004415.4(DSP):c.274-19T>C
NM_004415.4(DSP):c.274-20A>C
NM_004415.4(DSP):c.274-3C>G rs794729638
NM_004415.4(DSP):c.274-7C>G
NM_004415.4(DSP):c.274-8_274-7delinsAT rs1561680554
NM_004415.4(DSP):c.274-9T>A rs986399667
NM_004415.4(DSP):c.2744T>A (p.Met915Lys) rs750869761
NM_004415.4(DSP):c.2748A>G (p.Lys916=)
NM_004415.4(DSP):c.2748A>T (p.Lys916Asn)
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>G (p.Thr922Arg)
NM_004415.4(DSP):c.2765C>T (p.Thr922Ile) rs755099716
NM_004415.4(DSP):c.2769C>T (p.Val923=) rs767744438
NM_004415.4(DSP):c.276A>G (p.Glu92=)
NM_004415.4(DSP):c.2770_2771dup (p.Met924fs)
NM_004415.4(DSP):c.2772G>T (p.Met924Ile)
NM_004415.4(DSP):c.2775G>T (p.Arg925=) rs2113686798
NM_004415.4(DSP):c.2777T>C (p.Phe926Ser)
NM_004415.4(DSP):c.277T>C (p.Leu93=) rs1561680562
NM_004415.4(DSP):c.2784_2785del (p.Asn928fs)
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+11A>G
NM_004415.4(DSP):c.2793+14T>G
NM_004415.4(DSP):c.2793+18G>A rs1405091650
NM_004415.4(DSP):c.2793+1G>T rs1554107741
NM_004415.4(DSP):c.2793+7G>A
NM_004415.4(DSP):c.2793+8C>T
NM_004415.4(DSP):c.2794-12C>T rs1759258114
NM_004415.4(DSP):c.2794-13A>T
NM_004415.4(DSP):c.2794-17T>C
NM_004415.4(DSP):c.2794-17T>G
NM_004415.4(DSP):c.2794-1G>A rs1759258675
NM_004415.4(DSP):c.2794-20A>G
NM_004415.4(DSP):c.2794-7T>C rs397516926
NM_004415.4(DSP):c.2794-7T>G rs397516926
NM_004415.4(DSP):c.2799G>A (p.Leu933=)
NM_004415.4(DSP):c.279G>C (p.Leu93Phe) rs1447901875
NM_004415.4(DSP):c.2809A>G (p.Ile937Val) rs1287292518
NM_004415.4(DSP):c.2810T>A (p.Ile937Lys)
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.2821C>T (p.Arg941Ter) rs730880082
NM_004415.4(DSP):c.2825A>T (p.Asp942Val)
NM_004415.4(DSP):c.2829A>C (p.Lys943Asn)
NM_004415.4(DSP):c.2832del (p.Glu945fs) rs2113687612
NM_004415.4(DSP):c.2834_2835del (p.Glu945fs) rs2113687617
NM_004415.4(DSP):c.2842del (p.Gln948fs)
NM_004415.4(DSP):c.2847A>T (p.Lys949Asn)
NM_004415.4(DSP):c.2847_2848delinsT (p.Lys949fs)
NM_004415.4(DSP):c.2848A>G (p.Ile950Val)
NM_004415.4(DSP):c.2848del (p.Ile950fs) rs397516927
NM_004415.4(DSP):c.2848dup (p.Ile950fs) rs397516927
NM_004415.4(DSP):c.284A>T (p.Tyr95Phe)
NM_004415.4(DSP):c.2854G>T (p.Glu952Ter)
NM_004415.4(DSP):c.2860T>C (p.Cys954Arg)
NM_004415.4(DSP):c.2863G>A (p.Ala955Thr) rs190421916
NM_004415.4(DSP):c.2865C>A (p.Ala955=) rs2113687754
NM_004415.4(DSP):c.2867A>G (p.Asn956Ser)
NM_004415.4(DSP):c.286G>A (p.Gly96Arg) rs2113657461
NM_004415.4(DSP):c.2870_2874del (p.Asn956_Ser957insTer) rs794728139
NM_004415.4(DSP):c.2877+14A>G
NM_004415.4(DSP):c.2877+1G>A rs2113687794
NM_004415.4(DSP):c.2877+20A>C
NM_004415.4(DSP):c.2877+2T>C rs2113687807
NM_004415.4(DSP):c.2877+6T>A rs1331983690
NM_004415.4(DSP):c.2877+6T>C
NM_004415.4(DSP):c.2878-12A>G rs765050348
NM_004415.4(DSP):c.2878-13C>T
NM_004415.4(DSP):c.2878-14T>G
NM_004415.4(DSP):c.2878-17dup rs1440609253
NM_004415.4(DSP):c.2878-19A>G
NM_004415.4(DSP):c.2878-19A>T
NM_004415.4(DSP):c.2878-8T>C
NM_004415.4(DSP):c.2878-9A>G rs2113688819
NM_004415.4(DSP):c.2879A>G (p.Asp960Gly)
NM_004415.4(DSP):c.2887C>T (p.Leu963Phe) rs779931043
NM_004415.4(DSP):c.2890C>T (p.Gln964Ter) rs2113688859
NM_004415.4(DSP):c.2891A>T (p.Gln964Leu)
NM_004415.4(DSP):c.2892G>A (p.Gln964=) rs746675465
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.2898C>T (p.Ala966=) rs754665672
NM_004415.4(DSP):c.289G>A (p.Asp97Asn)
NM_004415.4(DSP):c.2903dup (p.Tyr968Ter) rs2113688911
NM_004415.4(DSP):c.2904C>T (p.Tyr968=) rs1241595798
NM_004415.4(DSP):c.2906C>A (p.Thr969Asn)
NM_004415.4(DSP):c.2912G>A (p.Gly971Glu)
NM_004415.4(DSP):c.2917G>T (p.Glu973Ter)
NM_004415.4(DSP):c.2923_2924del (p.Leu975fs)
NM_004415.4(DSP):c.292G>T (p.Gly98Ter)
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.2947_2948del (p.Thr983fs) rs1554107839
NM_004415.4(DSP):c.2948C>T (p.Thr983Ile) rs1040862892
NM_004415.4(DSP):c.2949C>T (p.Thr983=)
NM_004415.4(DSP):c.2950A>G (p.Met984Val) rs868110541
NM_004415.4(DSP):c.2951T>C (p.Met984Thr)
NM_004415.4(DSP):c.2963C>T (p.Pro988Leu) rs2113689067
NM_004415.4(DSP):c.2980dup (p.Gln994fs) rs1581813564
NM_004415.4(DSP):c.2985+7A>G
NM_004415.4(DSP):c.2985+8T>C rs776809248
NM_004415.4(DSP):c.2985+9G>A rs1759293135
NM_004415.4(DSP):c.2986-13_2986-10del
NM_004415.4(DSP):c.2986-15T>C
NM_004415.4(DSP):c.2986-18T>C
NM_004415.4(DSP):c.2986-3A>C
NM_004415.4(DSP):c.2986G>T (p.Ala996Ser) rs1254054471
NM_004415.4(DSP):c.2990C>T (p.Ala997Val)
NM_004415.4(DSP):c.2998_3012del (p.His1000_Ile1004del)
NM_004415.4(DSP):c.3000T>C (p.His1000=)
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.3006G>A (p.Arg1002=) rs1759317112
NM_004415.4(DSP):c.3010A>G (p.Ile1004Val) rs1561696251
NM_004415.4(DSP):c.3018A>G (p.Leu1006=) rs375412541
NM_004415.4(DSP):c.3018dup (p.Leu1007fs)
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.3038A>G (p.Tyr1013Cys)
NM_004415.4(DSP):c.3038_3039del (p.Tyr1013fs)
NM_004415.4(DSP):c.3044_3047dup (p.Phe1016fs) rs1554107916
NM_004415.4(DSP):c.3045G>A (p.Arg1015=)
NM_004415.4(DSP):c.3045del (p.Arg1015fs) rs1409693501
NM_004415.4(DSP):c.3046T>G (p.Phe1016Val) rs1561696335
NM_004415.4(DSP):c.3048C>T (p.Phe1016=) rs1299556752
NM_004415.4(DSP):c.304A>C (p.Thr102Pro)
NM_004415.4(DSP):c.3061C>T (p.Leu1021=)
NM_004415.4(DSP):c.3062T>G (p.Leu1021Arg)
NM_004415.4(DSP):c.3064_3065del (p.Lys1022fs)
NM_004415.4(DSP):c.3068G>A (p.Ser1023Asn) rs2113690096
NM_004415.4(DSP):c.3070T>G (p.Leu1024Val) rs1474315262
NM_004415.4(DSP):c.307C>G (p.Arg103Gly)
NM_004415.4(DSP):c.307C>T (p.Arg103Trp) rs375028675
NM_004415.4(DSP):c.3080T>C (p.Leu1027Pro)
NM_004415.4(DSP):c.3084+10A>G rs1581814315
NM_004415.4(DSP):c.3084+11C>T
NM_004415.4(DSP):c.3084+12T>G
NM_004415.4(DSP):c.3084+19T>C
NM_004415.4(DSP):c.3084+20C>T
NM_004415.4(DSP):c.3085-10C>G
NM_004415.4(DSP):c.3085-13T>C rs2113690976
NM_004415.4(DSP):c.3085-20T>A
NM_004415.4(DSP):c.3085-20T>G
NM_004415.4(DSP):c.3085-4A>G
NM_004415.4(DSP):c.3094del (p.Thr1032fs) rs2113690997
NM_004415.4(DSP):c.309G>A (p.Arg103=)
NM_004415.4(DSP):c.30G>A (p.Arg10=)
NM_004415.4(DSP):c.30G>T (p.Arg10=) rs1581777241
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.3110T>A (p.Leu1037Ter)
NM_004415.4(DSP):c.3110del (p.Leu1037fs)
NM_004415.4(DSP):c.3120G>A (p.Glu1040=)
NM_004415.4(DSP):c.3126_3127delinsT (p.Arg1042fs) rs1561696970
NM_004415.4(DSP):c.3126del (p.Arg1042fs)
NM_004415.4(DSP):c.3127C>T (p.Leu1043=) rs1581814977
NM_004415.4(DSP):c.3131C>T (p.Ala1044Val)
NM_004415.4(DSP):c.3132C>A (p.Ala1044=)
NM_004415.4(DSP):c.3133C>T (p.Arg1045Ter) rs1554108012
NM_004415.4(DSP):c.3134G>C (p.Arg1045Pro) rs374263890
NM_004415.4(DSP):c.3137A>T (p.Asp1046Val) rs752077454
NM_004415.4(DSP):c.3138T>C (p.Asp1046=) rs879254347
NM_004415.4(DSP):c.313C>T (p.Arg105Ter) rs1435125402
NM_004415.4(DSP):c.3140C>T (p.Ala1047Val) rs397516931
NM_004415.4(DSP):c.3144C>G (p.Asn1048Lys)
NM_004415.4(DSP):c.3146C>G (p.Ser1049Trp) rs751361395
NM_004415.4(DSP):c.3157A>G (p.Asn1053Asp)
NM_004415.4(DSP):c.3160_3169del (p.Lys1054fs) rs397516932
NM_004415.4(DSP):c.3162G>A (p.Lys1054=)
NM_004415.4(DSP):c.3163A>G (p.Asn1055Asp)
NM_004415.4(DSP):c.3165del (p.Asn1055fs) rs2113691213
NM_004415.4(DSP):c.3167A>G (p.Lys1056Arg)
NM_004415.4(DSP):c.3178C>A (p.Gln1060Lys)
NM_004415.4(DSP):c.3184C>A (p.Leu1062Met) rs2113691218
NM_004415.4(DSP):c.3186G>T (p.Leu1062=)
NM_004415.4(DSP):c.3190A>G (p.Lys1064Glu) rs1383448057
NM_004415.4(DSP):c.3192dup (p.Tyr1065fs) rs778930865
NM_004415.4(DSP):c.3195C>G (p.Tyr1065Ter) rs886039178
NM_004415.4(DSP):c.31A>G (p.Ile11Val)
NM_004415.4(DSP):c.3203A>G (p.Glu1068Gly)
NM_004415.4(DSP):c.3203_3204del (p.Glu1068fs)
NM_004415.4(DSP):c.320T>A (p.Leu107Ter) rs2113657559
NM_004415.4(DSP):c.3211C>T (p.Gln1071Ter)
NM_004415.4(DSP):c.3226del (p.Ala1077fs)
NM_004415.4(DSP):c.322G>A (p.Asp108Asn)
NM_004415.4(DSP):c.3230C>T (p.Ala1077Val) rs1257696096
NM_004415.4(DSP):c.3231G>C (p.Ala1077=)
NM_004415.4(DSP):c.3238G>A (p.Glu1080Lys) rs1759345464
NM_004415.4(DSP):c.3241G>T (p.Glu1081Ter) rs1554108050
NM_004415.4(DSP):c.3243G>T (p.Glu1081Asp)
NM_004415.4(DSP):c.3244C>T (p.Leu1082=)
NM_004415.4(DSP):c.3253C>T (p.Gln1085Ter) rs1759345923
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.3263T>C (p.Leu1088Pro)
NM_004415.4(DSP):c.3264G>T (p.Leu1088=)
NM_004415.4(DSP):c.3276G>A (p.Ser1092=) rs202057409
NM_004415.4(DSP):c.3276G>C (p.Ser1092=) rs202057409
NM_004415.4(DSP):c.3282G>C (p.Lys1094Asn) rs2491080
NM_004415.4(DSP):c.328T>C (p.Cys110Arg) rs1554105823
NM_004415.4(DSP):c.3290_3291dup (p.Asp1098Ter) rs1561697181
NM_004415.4(DSP):c.3296A>G (p.Lys1099Arg)
NM_004415.4(DSP):c.3297G>A (p.Lys1099=)
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.3299G>C (p.Cys1100Ser)
NM_004415.4(DSP):c.329_330delinsAA (p.Cys110Ter) rs1561680649
NM_004415.4(DSP):c.3306C>T (p.Gly1102=)
NM_004415.4(DSP):c.330_334del (p.Phe111fs) rs1581792793
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.3315A>G (p.Lys1105=) rs1581815327
NM_004415.4(DSP):c.3316G>T (p.Glu1106Ter) rs1131691673
NM_004415.4(DSP):c.3318A>G (p.Glu1106=) rs2113691480
NM_004415.4(DSP):c.3319C>T (p.Leu1107Phe) rs1759348638
NM_004415.4(DSP):c.3321C>G (p.Leu1107=)
NM_004415.4(DSP):c.3321C>T (p.Leu1107=)
NM_004415.4(DSP):c.3325G>A (p.Glu1109Lys) rs367763339
NM_004415.4(DSP):c.3337C>T (p.Arg1113Ter) rs746877365
NM_004415.4(DSP):c.3338del (p.Arg1113fs) rs2113691528
NM_004415.4(DSP):c.3339A>C (p.Arg1113=)
NM_004415.4(DSP):c.3339A>T (p.Arg1113=)
NM_004415.4(DSP):c.3340C>A (p.Leu1114Met)
NM_004415.4(DSP):c.3342G>T (p.Leu1114=)
NM_004415.4(DSP):c.3344C>T (p.Thr1115Ile) rs1393151720
NM_004415.4(DSP):c.3346_3354del (p.Tyr1116_Ile1118del)
NM_004415.4(DSP):c.3346del (p.Tyr1116fs) rs2113691557
NM_004415.4(DSP):c.3348T>A (p.Tyr1116Ter) rs772646601
NM_004415.4(DSP):c.3351G>A (p.Glu1117=) rs1759350245
NM_004415.4(DSP):c.3366G>A (p.Lys1122=) rs1561697279
NM_004415.4(DSP):c.3368GAA[2] (p.Arg1125del) rs1405952840
NM_004415.4(DSP):c.3368_3372del (p.Arg1123fs)
NM_004415.4(DSP):c.3371G>A (p.Arg1124Lys)
NM_004415.4(DSP):c.3389A>G (p.Asp1130Gly) rs886061746
NM_004415.4(DSP):c.3391dup (p.Arg1131fs)
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.3402A>G (p.Gln1134=)
NM_004415.4(DSP):c.3404A>C (p.Gln1135Pro) rs754250788
NM_004415.4(DSP):c.3407del (p.Lys1136fs)
NM_004415.4(DSP):c.3408_3409delinsAG (p.Asn1137Asp) rs1759352206
NM_004415.4(DSP):c.3414C>T (p.Asp1138=)
NM_004415.4(DSP):c.3415_3417delinsG (p.Tyr1139fs) rs1064794616
NM_004415.4(DSP):c.3416A>G (p.Tyr1139Cys)
NM_004415.4(DSP):c.3423A>C (p.Gln1141His) rs759288257
NM_004415.4(DSP):c.3423A>G (p.Gln1141=)
NM_004415.4(DSP):c.3424C>T (p.Leu1142=) rs779251147
NM_004415.4(DSP):c.3439C>T (p.Gln1147Ter) rs2113691766
NM_004415.4(DSP):c.3449del (p.Lys1150fs) rs2113691774
NM_004415.4(DSP):c.3456C>A (p.Asn1152Lys)
NM_004415.4(DSP):c.3458T>G (p.Leu1153Arg) rs1554108085
NM_004415.4(DSP):c.3462T>A (p.Gly1154=) rs1554108086
NM_004415.4(DSP):c.3465G>A (p.Trp1155Ter) rs1759354150
NM_004415.4(DSP):c.3465G>C (p.Trp1155Cys) rs1759354150
NM_004415.4(DSP):c.3466C>T (p.Gln1156Ter) rs1581815654
NM_004415.4(DSP):c.3468G>A (p.Gln1156=) rs947354271
NM_004415.4(DSP):c.3469A>C (p.Lys1157Gln) rs1759354483
NM_004415.4(DSP):c.346G>A (p.Asp116Asn)
NM_004415.4(DSP):c.3474dup (p.Glu1159fs) rs727503000
NM_004415.4(DSP):c.3480T>C (p.Ser1160=)
NM_004415.4(DSP):c.3485A>C (p.Lys1162Thr)
NM_004415.4(DSP):c.348C>T (p.Asp116=)
NM_004415.4(DSP):c.3492C>G (p.Ile1164Met) rs1561697488
NM_004415.4(DSP):c.3492_3498del (p.Lys1165fs)
NM_004415.4(DSP):c.3494dup (p.Glu1166fs) rs2113691887
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.3503A>G (p.Glu1168Gly)
NM_004415.4(DSP):c.3504G>A (p.Glu1168=)
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.3507C>A (p.Tyr1169Ter) rs148894066
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.3517del (p.Arg1173fs)
NM_004415.4(DSP):c.3518G>T (p.Arg1173Met)
NM_004415.4(DSP):c.3522G>A (p.Leu1174=)
NM_004415.4(DSP):c.3524G>A (p.Arg1175Lys) rs1759357066
NM_004415.4(DSP):c.3526G>A (p.Val1176Ile)
NM_004415.4(DSP):c.3526del (p.Val1176fs) rs727505271
NM_004415.4(DSP):c.3527T>C (p.Val1176Ala) rs1759357469
NM_004415.4(DSP):c.3529_3530dup (p.Leu1178fs)
NM_004415.4(DSP):c.3529del (p.Leu1177fs)
NM_004415.4(DSP):c.3535C>T (p.Gln1179Ter) rs1759357763
NM_004415.4(DSP):c.3538G>A (p.Glu1180Lys)
NM_004415.4(DSP):c.3541G>T (p.Glu1181Ter)
NM_004415.4(DSP):c.3543A>G (p.Glu1181=)
NM_004415.4(DSP):c.3546C>A (p.Gly1182=) rs1355395147
NM_004415.4(DSP):c.3548C>T (p.Thr1183Ile)
NM_004415.4(DSP):c.3555G>A (p.Lys1185=)
NM_004415.4(DSP):c.3555G>C (p.Lys1185Asn)
NM_004415.4(DSP):c.3559G>A (p.Glu1187Lys) rs1759359375
NM_004415.4(DSP):c.3564T>A (p.Tyr1188Ter) rs2113692122
NM_004415.4(DSP):c.3564T>C (p.Tyr1188=) rs2113692122
NM_004415.4(DSP):c.3565G>A (p.Glu1189Lys) rs866149042
NM_004415.4(DSP):c.3571G>T (p.Glu1191Ter) rs1759359916
NM_004415.4(DSP):c.3573G>C (p.Glu1191Asp)
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.3578_3579insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCANNNNNNNNNNAAAAAAAAAAAAAAAAAAAAGAAAATGAGCTGGC (p.Ala1193_Lys1194insAlaGlyArgGlyGlySerArgLeuTer) rs2113692133
NM_004415.4(DSP):c.3582G>A (p.Lys1194=)
NM_004415.4(DSP):c.3591C>T (p.Asn1197=)
NM_004415.4(DSP):c.3596A>G (p.Tyr1199Cys)
NM_004415.4(DSP):c.35A>G (p.Asn12Ser) rs1239489755
NM_004415.4(DSP):c.3606G>A (p.Glu1202=)
NM_004415.4(DSP):c.3608T>C (p.Met1203Thr)
NM_004415.4(DSP):c.3608_3609insAC (p.Met1203fs) rs2113692208
NM_004415.4(DSP):c.3609_3610delinsAG (p.Met1203_Ser1204delinsIleGly) rs1759361326
NM_004415.4(DSP):c.3616T>G (p.Leu1206Val) rs151115778
NM_004415.4(DSP):c.3625A>C (p.Lys1209Gln) rs1283110287
NM_004415.4(DSP):c.3629A>G (p.Tyr1210Cys)
NM_004415.4(DSP):c.3630T>A (p.Tyr1210Ter) rs727503001
NM_004415.4(DSP):c.3639G>A (p.Glu1213=)
NM_004415.4(DSP):c.3639_3640del (p.Glu1213fs) rs2113692271
NM_004415.4(DSP):c.3640A>G (p.Ile1214Val)
NM_004415.4(DSP):c.3654G>C (p.Lys1218Asn)
NM_004415.4(DSP):c.3657C>A (p.Thr1219=)
NM_004415.4(DSP):c.3663C>T (p.Ile1221=) rs2113692351
NM_004415.4(DSP):c.3667G>A (p.Glu1223Lys)
NM_004415.4(DSP):c.3671T>C (p.Ile1224Thr)
NM_004415.4(DSP):c.3676A>G (p.Met1226Val)
NM_004415.4(DSP):c.3680A>C (p.Gln1227Pro) rs1458557680
NM_004415.4(DSP):c.3684A>T (p.Lys1228Asn)
NM_004415.4(DSP):c.3687G>A (p.Glu1229=)
NM_004415.4(DSP):c.3687_3689dup (p.Glu1229dup) rs1561697838
NM_004415.4(DSP):c.3692A>C (p.Asp1231Ala) rs1581816117
NM_004415.4(DSP):c.3696C>G (p.Ser1232=) rs141120358
NM_004415.4(DSP):c.3696C>T (p.Ser1232=)
NM_004415.4(DSP):c.36C>T (p.Asn12=) rs886061744
NM_004415.4(DSP):c.3706A>C (p.Arg1236=)
NM_004415.4(DSP):c.370T>C (p.Leu124=) rs2113657689
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.3714G>A (p.Gln1238=) rs2113692461
NM_004415.4(DSP):c.3718G>C (p.Asp1240His) rs1216670261
NM_004415.4(DSP):c.3720T>A (p.Asp1240Glu) rs1759365530
NM_004415.4(DSP):c.3725T>C (p.Leu1242Pro) rs1759365693
NM_004415.4(DSP):c.372G>A (p.Leu124=) rs2113657693
NM_004415.4(DSP):c.3730A>G (p.Arg1244Gly) rs2113692494
NM_004415.4(DSP):c.3733del (p.Glu1245fs) rs794728142
NM_004415.4(DSP):c.3735_3741dup (p.Asp1248fs) rs1554108152
NM_004415.4(DSP):c.3739C>A (p.Arg1247=)
NM_004415.4(DSP):c.3739C>T (p.Arg1247Ter) rs1413961070
NM_004415.4(DSP):c.373A>C (p.Ile125Leu)
NM_004415.4(DSP):c.3742G>C (p.Asp1248His) rs989348634
NM_004415.4(DSP):c.3743A>C (p.Asp1248Ala) rs1276847644
NM_004415.4(DSP):c.3750G>A (p.Lys1250=) rs2113692538
NM_004415.4(DSP):c.3757del (p.Ile1253fs) rs2113692562
NM_004415.4(DSP):c.3762C>G (p.Val1254=) rs2113692582
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.3764G>C (p.Arg1255Thr)
NM_004415.4(DSP):c.3770A>G (p.Asn1257Ser) rs1561697968
NM_004415.4(DSP):c.3771T>C (p.Asn1257=)
NM_004415.4(DSP):c.3775A>G (p.Ser1259Gly) rs770172294
NM_004415.4(DSP):c.3778A>T (p.Ile1260Phe)
NM_004415.4(DSP):c.3780C>T (p.Ile1260=) rs2113692617
NM_004415.4(DSP):c.3784C>T (p.Gln1262Ter) rs2113692628
NM_004415.4(DSP):c.3788C>A (p.Ala1263Asp) rs1359308406
NM_004415.4(DSP):c.3788C>T (p.Ala1263Val)
NM_004415.4(DSP):c.378A>G (p.Arg126=) rs1758561693
NM_004415.4(DSP):c.3792T>A (p.Thr1264=)
NM_004415.4(DSP):c.3792T>C (p.Thr1264=) rs766726853
NM_004415.4(DSP):c.3793G>T (p.Glu1265Ter) rs1554108172
NM_004415.4(DSP):c.3794A>G (p.Glu1265Gly)
NM_004415.4(DSP):c.3799C>T (p.Arg1267Ter) rs121912997
NM_004415.4(DSP):c.37A>G (p.Thr13Ala)
NM_004415.4(DSP):c.3805C>A (p.Arg1269=) rs767643821
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.381G>A (p.Glu127=)
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>T (p.Gln1276Ter)
NM_004415.4(DSP):c.3828G>A (p.Gln1276=)
NM_004415.4(DSP):c.3829C>T (p.Gln1277Ter) rs397516933
NM_004415.4(DSP):c.3835G>T (p.Ala1279Ser) rs763915365
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.3846T>C (p.Ser1282=) rs2113692799
NM_004415.4(DSP):c.3849G>A (p.Glu1283=) rs2113692806
NM_004415.4(DSP):c.384dup (p.Arg129fs)
NM_004415.4(DSP):c.3850del (p.Glu1283_Ile1284insTer)
NM_004415.4(DSP):c.3854T>G (p.Met1285Arg) rs1759372184
NM_004415.4(DSP):c.3856C>T (p.Gln1286Ter)
NM_004415.4(DSP):c.3858_3859insGG (p.Lys1287fs)
NM_004415.4(DSP):c.3864G>T (p.Lys1288Asn) rs768166626
NM_004415.4(DSP):c.3867G>A (p.Gln1289=)
NM_004415.4(DSP):c.3870T>C (p.His1290=)
NM_004415.4(DSP):c.3872T>C (p.Leu1291Pro)
NM_004415.4(DSP):c.387G>A (p.Arg129=)
NM_004415.4(DSP):c.3880G>A (p.Glu1294Lys)
NM_004415.4(DSP):c.3894C>A (p.Val1298=) rs1581816575
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.3899A>G (p.Gln1300Arg) rs1060500619
NM_004415.4(DSP):c.389A>G (p.Gln130Arg)
NM_004415.4(DSP):c.3902A>T (p.Gln1301Leu) rs2113692916
NM_004415.4(DSP):c.3905G>T (p.Arg1302Leu)
NM_004415.4(DSP):c.3905_3906dup (p.Ser1303fs)
NM_004415.4(DSP):c.3909T>C (p.Ser1303=)
NM_004415.4(DSP):c.3909_3921del (p.Glu1304fs)
NM_004415.4(DSP):c.3918T>C (p.Asn1306=) rs761749643
NM_004415.4(DSP):c.3919G>T (p.Ala1307Ser)
NM_004415.4(DSP):c.3919_3920delinsTT (p.Ala1307Phe)
NM_004415.4(DSP):c.3923G>T (p.Arg1308Leu) rs184154918
NM_004415.4(DSP):c.3928A>T (p.Lys1310Ter)
NM_004415.4(DSP):c.3929A>C (p.Lys1310Thr)
NM_004415.4(DSP):c.3932A>C (p.Gln1311Pro)
NM_004415.4(DSP):c.3932_3936del (p.Gln1311fs)
NM_004415.4(DSP):c.3934T>C (p.Ser1312Pro)
NM_004415.4(DSP):c.3941A>G (p.Glu1314Gly)
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.3957C>T (p.Thr1319=) rs2113693020
NM_004415.4(DSP):c.3958A>C (p.Ile1320Leu)
NM_004415.4(DSP):c.3958A>G (p.Ile1320Val)
NM_004415.4(DSP):c.3964G>A (p.Asp1322Asn) rs1759376700
NM_004415.4(DSP):c.3971A>G (p.Asn1324Ser)
NM_004415.4(DSP):c.397C>G (p.Gln133Glu)
NM_004415.4(DSP):c.3981C>A (p.Ile1327=) rs397516934
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.3990C>G (p.Leu1330=)
NM_004415.4(DSP):c.3991_3995del (p.Leu1330_Lys1331insTer)
NM_004415.4(DSP):c.3996T>A (p.Ala1332=)
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>T (p.Gln1335Ter) rs879255521
NM_004415.4(DSP):c.4009del (p.Glu1337fs) rs794727381
NM_004415.4(DSP):c.4011G>C (p.Glu1337Asp)
NM_004415.4(DSP):c.4013C>A (p.Ala1338Asp) rs2113693177
NM_004415.4(DSP):c.4014C>T (p.Ala1338=)
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.402C>T (p.Pro134=) rs373685989
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.4037_4041del (p.Asn1346fs) rs1561698362
NM_004415.4(DSP):c.4042C>G (p.Leu1348Val)
NM_004415.4(DSP):c.4044_4047del (p.Ser1349fs)
NM_004415.4(DSP):c.4055G>A (p.Arg1352Lys) rs757808893
NM_004415.4(DSP):c.4069GAG[1] (p.Glu1358del) rs777457799
NM_004415.4(DSP):c.4071G>C (p.Glu1357Asp) rs569786610
NM_004415.4(DSP):c.4072G>A (p.Glu1358Lys)
NM_004415.4(DSP):c.4076_4106del (p.Ile1359fs)
NM_004415.4(DSP):c.4077C>G (p.Ile1359Met)
NM_004415.4(DSP):c.4084T>C (p.Leu1362=) rs2113693339
NM_004415.4(DSP):c.4090A>C (p.Asn1364His)
NM_004415.4(DSP):c.4098T>G (p.Phe1366Leu)
NM_004415.4(DSP):c.4099G>A (p.Glu1367Lys) rs1759383897
NM_004415.4(DSP):c.40C>A (p.Leu14Met)
NM_004415.4(DSP):c.4104C>T (p.Thr1368=) rs1464715776
NM_004415.4(DSP):c.4107_4108delinsTG (p.Glu1369_Ile1370delinsAspVal) rs1759384287
NM_004415.4(DSP):c.4109T>A (p.Ile1370Asn) rs1759384359
NM_004415.4(DSP):c.4113C>T (p.Asn1371=)
NM_004415.4(DSP):c.4113_4114insCAAG (p.Ile1372fs)
NM_004415.4(DSP):c.411T>G (p.Ala137=) rs745536008
NM_004415.4(DSP):c.4130T>A (p.Ile1377Asn) rs1215591946
NM_004415.4(DSP):c.4134C>T (p.His1378=)
NM_004415.4(DSP):c.4140C>T (p.Leu1380=) rs1759385261
NM_004415.4(DSP):c.4145T>C (p.Met1382Thr)
NM_004415.4(DSP):c.4145T>G (p.Met1382Arg)
NM_004415.4(DSP):c.4153_4156del (p.Glu1385fs) rs1759385935
NM_004415.4(DSP):c.415del (p.Gln139fs)
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.4177G>A (p.Ala1393Thr)
NM_004415.4(DSP):c.4180C>T (p.Gln1394Ter) rs140474226
NM_004415.4(DSP):c.4188C>T (p.Asp1396=)
NM_004415.4(DSP):c.418A>G (p.Lys140Glu)
NM_004415.4(DSP):c.4191T>A (p.Asn1397Lys)
NM_004415.4(DSP):c.4195A>G (p.Thr1399Ala) rs1561698547
NM_004415.4(DSP):c.4196C>T (p.Thr1399Ile)
NM_004415.4(DSP):c.4197C>T (p.Thr1399=) rs1581817166
NM_004415.4(DSP):c.4198C>T (p.Arg1400Ter) rs770873593
NM_004415.4(DSP):c.4201G>T (p.Glu1401Ter) rs774065012
NM_004415.4(DSP):c.4202A>T (p.Glu1401Val) rs1759389046
NM_004415.4(DSP):c.4204A>G (p.Asn1402Asp)
NM_004415.4(DSP):c.4209G>A (p.Arg1403=) rs1561698567
NM_004415.4(DSP):c.420A>G (p.Lys140=)
NM_004415.4(DSP):c.4213T>C (p.Leu1405=) rs1451895767
NM_004415.4(DSP):c.4216T>C (p.Ser1406Pro)
NM_004415.4(DSP):c.4219G>T (p.Glu1407Ter)
NM_004415.4(DSP):c.422+17A>G
NM_004415.4(DSP):c.422+1G>A
NM_004415.4(DSP):c.422+2T>G rs2113657846
NM_004415.4(DSP):c.422+3A>G rs1758564707
NM_004415.4(DSP):c.422+7T>C
NM_004415.4(DSP):c.4226_4228del (p.Ile1409del) rs746639284
NM_004415.4(DSP):c.4229dup (p.Arg1411fs)
NM_004415.4(DSP):c.422G>A (p.Arg141Lys)
NM_004415.4(DSP):c.422G>C (p.Arg141Thr) rs969373062
NM_004415.4(DSP):c.423-10T>G
NM_004415.4(DSP):c.423-11T>A rs1758598034
NM_004415.4(DSP):c.423-16G>A rs1561681390
NM_004415.4(DSP):c.423-1G>T rs1304410089
NM_004415.4(DSP):c.423-2A>G rs2113659544
NM_004415.4(DSP):c.423-6T>G
NM_004415.4(DSP):c.423-9dup rs1554105896
NM_004415.4(DSP):c.4233G>T (p.Arg1411Ser) rs771721410
NM_004415.4(DSP):c.4239G>A (p.Lys1413=) rs1581817246
NM_004415.4(DSP):c.423G>T (p.Arg141Ser)
NM_004415.4(DSP):c.4245T>A (p.Thr1415=) rs397516936
NM_004415.4(DSP):c.4245T>G (p.Thr1415=) rs397516936
NM_004415.4(DSP):c.4245_4254del (p.Leu1416fs)
NM_004415.4(DSP):c.4252C>T (p.Gln1418Ter)
NM_004415.4(DSP):c.4261G>A (p.Glu1421Lys) rs769965019
NM_004415.4(DSP):c.4267C>A (p.Leu1423Ile)
NM_004415.4(DSP):c.4270A>C (p.Arg1424=) rs1581817293
NM_004415.4(DSP):c.4276G>A (p.Val1426Met) rs1759393186
NM_004415.4(DSP):c.4279G>A (p.Glu1427Lys)
NM_004415.4(DSP):c.4289T>C (p.Ile1430Thr)
NM_004415.4(DSP):c.428T>C (p.Leu143Pro) rs746545985
NM_004415.4(DSP):c.4293A>T (p.Gln1431His)
NM_004415.4(DSP):c.4304C>T (p.Ala1435Val) rs1164622831
NM_004415.4(DSP):c.4305_4311del (p.Thr1436fs) rs2113693785
NM_004415.4(DSP):c.4311C>T (p.Gly1437=) rs781353867
NM_004415.4(DSP):c.4317G>A (p.Glu1439=)
NM_004415.4(DSP):c.4324C>T (p.Gln1442Ter)
NM_004415.4(DSP):c.4336C>T (p.Gln1446Ter)
NM_004415.4(DSP):c.4337A>G (p.Gln1446Arg)
NM_004415.4(DSP):c.4337_4338insTGCT (p.Gln1446fs) rs2113693861
NM_004415.4(DSP):c.4344G>A (p.Glu1448=)
NM_004415.4(DSP):c.4350G>A (p.Glu1450=) rs1561698730
NM_004415.4(DSP):c.4351C>G (p.Leu1451Val)
NM_004415.4(DSP):c.4352T>C (p.Leu1451Pro) rs1554108296
NM_004415.4(DSP):c.4357C>T (p.Gln1453Ter) rs1561698750
NM_004415.4(DSP):c.4360G>A (p.Val1454Ile)
NM_004415.4(DSP):c.4364C>G (p.Thr1455Ser)
NM_004415.4(DSP):c.4365T>G (p.Thr1455=)
NM_004415.4(DSP):c.4369A>T (p.Met1457Leu)
NM_004415.4(DSP):c.4371G>C (p.Met1457Ile) rs1169630255
NM_004415.4(DSP):c.4372C>A (p.Arg1458=) rs28763965
NM_004415.4(DSP):c.4372C>T (p.Arg1458Ter) rs28763965
NM_004415.4(DSP):c.4373G>T (p.Arg1458Leu) rs370063434
NM_004415.4(DSP):c.4376C>G (p.Thr1459Arg)
NM_004415.4(DSP):c.4379A>G (p.Glu1460Gly) rs1759396646
NM_004415.4(DSP):c.4384_4387del (p.Glu1461_Ser1462insTer) rs1759396933
NM_004415.4(DSP):c.4385_4386delinsTT (p.Ser1462Ile) rs730880090
NM_004415.4(DSP):c.4388dup (p.Arg1464fs)
NM_004415.4(DSP):c.438A>G (p.Gln146=) rs2113659595
NM_004415.4(DSP):c.4392A>G (p.Arg1464=)
NM_004415.4(DSP):c.4395T>G (p.Tyr1465Ter) rs1236464864
NM_004415.4(DSP):c.4396A>G (p.Lys1466Glu) rs1561698838
NM_004415.4(DSP):c.439G>C (p.Glu147Gln)
NM_004415.4(DSP):c.4404_4410del (p.Leu1469fs)
NM_004415.4(DSP):c.4407_4423del (p.Asp1470fs)
NM_004415.4(DSP):c.4409A>G (p.Asp1470Gly)
NM_004415.4(DSP):c.4411dup (p.Asp1471fs)
NM_004415.4(DSP):c.4414G>T (p.Ala1472Ser)
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.4421A>G (p.Lys1474Arg) rs756456881
NM_004415.4(DSP):c.4423del (p.Thr1475fs) rs1227662860
NM_004415.4(DSP):c.4426A>G (p.Ile1476Val)
NM_004415.4(DSP):c.4428C>A (p.Ile1476=)
NM_004415.4(DSP):c.4428C>T (p.Ile1476=) rs754071010
NM_004415.4(DSP):c.4434_4464dup (p.Leu1489Ter) rs2113694068
NM_004415.4(DSP):c.4434dup (p.Lys1479Ter) rs2113694076
NM_004415.4(DSP):c.4445A>C (p.Glu1482Ala)
NM_004415.4(DSP):c.4449A>G (p.Ile1483Met) rs1308817559
NM_004415.4(DSP):c.4451A>G (p.Glu1484Gly)
NM_004415.4(DSP):c.4451_4454del (p.Glu1484fs)
NM_004415.4(DSP):c.4462C>T (p.Gln1488Ter)
NM_004415.4(DSP):c.4468A>G (p.Ile1490Val)
NM_004415.4(DSP):c.4472A>G (p.Asp1491Gly) rs397516938
NM_004415.4(DSP):c.4476del (p.Glu1493fs)
NM_004415.4(DSP):c.4477_4480del (p.Glu1493fs)
NM_004415.4(DSP):c.448C>T (p.Arg150Ter) rs2113659637
NM_004415.4(DSP):c.4491G>C (p.Arg1497=)
NM_004415.4(DSP):c.4491del (p.Lys1498fs)
NM_004415.4(DSP):c.4497C>T (p.Cys1499=) rs892155521
NM_004415.4(DSP):c.4498C>T (p.Leu1500=) rs2113694241
NM_004415.4(DSP):c.44G>A (p.Gly15Asp) rs1265161836
NM_004415.4(DSP):c.4500G>A (p.Leu1500=)
NM_004415.4(DSP):c.4501G>A (p.Glu1501Lys)
NM_004415.4(DSP):c.4502A>G (p.Glu1501Gly) rs1759403946
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>A (p.Ala1505Glu)
NM_004415.4(DSP):c.4515G>A (p.Ala1505=) rs193197554
NM_004415.4(DSP):c.4515G>C (p.Ala1505=)
NM_004415.4(DSP):c.4517G>A (p.Arg1506Lys)
NM_004415.4(DSP):c.4521A>G (p.Leu1507=) rs1060500611
NM_004415.4(DSP):c.4521A>T (p.Leu1507Phe) rs1060500611
NM_004415.4(DSP):c.4523A>G (p.Gln1508Arg) rs1759404972
NM_004415.4(DSP):c.4527_4559del (p.Arg1509_Ser1519del) rs397516939
NM_004415.4(DSP):c.4532A>G (p.Gln1511Arg)
NM_004415.4(DSP):c.4533G>C (p.Gln1511His) rs2113694339
NM_004415.4(DSP):c.4539C>A (p.Asp1513Glu) rs1759406088
NM_004415.4(DSP):c.4541T>C (p.Leu1514Pro) rs1173680775
NM_004415.4(DSP):c.4552A>G (p.Asn1518Asp)
NM_004415.4(DSP):c.4554C>T (p.Asn1518=) rs1359876288
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.4562C>T (p.Ala1521Val)
NM_004415.4(DSP):c.4563G>C (p.Ala1521=)
NM_004415.4(DSP):c.4564A>T (p.Thr1522Ser) rs1759406838
NM_004415.4(DSP):c.4566G>T (p.Thr1522=)
NM_004415.4(DSP):c.4569G>A (p.Glu1523=) rs772831377
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.4579_4582del (p.Asn1526_Lys1527insTer) rs2113694449
NM_004415.4(DSP):c.4582C>T (p.Leu1528=)
NM_004415.4(DSP):c.4583T>C (p.Leu1528Pro)
NM_004415.4(DSP):c.4588G>C (p.Val1530Leu)
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.4608dup (p.Arg1537fs)
NM_004415.4(DSP):c.4623C>T (p.Asp1541=) rs1554108349
NM_004415.4(DSP):c.4625A>C (p.Tyr1542Ser)
NM_004415.4(DSP):c.4625_4626del (p.Asp1541_Tyr1542insTer)
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.4635T>C (p.Val1545=)
NM_004415.4(DSP):c.4644G>A (p.Glu1548=) rs1275385323
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.4648A>T (p.Thr1550Ser)
NM_004415.4(DSP):c.4649C>G (p.Thr1550Ser) rs928167721
NM_004415.4(DSP):c.465del (p.Ile156fs) rs1554105911
NM_004415.4(DSP):c.466A>C (p.Ile156Leu)
NM_004415.4(DSP):c.466A>G (p.Ile156Val)
NM_004415.4(DSP):c.4672C>T (p.Arg1558Trp)
NM_004415.4(DSP):c.4673G>A (p.Arg1558Gln)
NM_004415.4(DSP):c.4674G>T (p.Arg1558=)
NM_004415.4(DSP):c.4677C>G (p.Phe1559Leu)
NM_004415.4(DSP):c.4678C>T (p.Gln1560Ter)
NM_004415.4(DSP):c.4679A>G (p.Gln1560Arg) rs796530013
NM_004415.4(DSP):c.4683C>A (p.Asn1561Lys)
NM_004415.4(DSP):c.4683C>G (p.Asn1561Lys)
NM_004415.4(DSP):c.4685C>G (p.Ser1562Cys)
NM_004415.4(DSP):c.4686T>A (p.Ser1562=) rs898212782
NM_004415.4(DSP):c.4686T>C (p.Ser1562=)
NM_004415.4(DSP):c.4687_4688del (p.Leu1563fs) rs2113694673
NM_004415.4(DSP):c.4689G>C (p.Leu1563=) rs763150071
NM_004415.4(DSP):c.4696C>A (p.Leu1566Met)
NM_004415.4(DSP):c.4699C>T (p.Gln1567Ter) rs2113694704
NM_004415.4(DSP):c.46C>A (p.Arg16Ser) rs754773488
NM_004415.4(DSP):c.46C>T (p.Arg16Cys)
NM_004415.4(DSP):c.4712A>C (p.Gln1571Pro)
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.471T>C (p.Ser157=)
NM_004415.4(DSP):c.4731G>A (p.Leu1577=) rs2113694756
NM_004415.4(DSP):c.4731G>C (p.Leu1577=) rs2113694756
NM_004415.4(DSP):c.4737G>A (p.Arg1579=)
NM_004415.4(DSP):c.4740G>A (p.Leu1580=) rs2113694768
NM_004415.4(DSP):c.4743G>A (p.Lys1581=)
NM_004415.4(DSP):c.4749C>A (p.Thr1583=)
NM_004415.4(DSP):c.474C>T (p.Val158=)
NM_004415.4(DSP):c.4750G>T (p.Ala1584Ser) rs191778417
NM_004415.4(DSP):c.4751C>T (p.Ala1584Val)
NM_004415.4(DSP):c.4751_4752del (p.Ala1584fs) rs2113694794
NM_004415.4(DSP):c.4751del (p.Ala1584fs)
NM_004415.4(DSP):c.4753_4759del (p.Ser1585fs) rs2113694822
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.4770G>A (p.Lys1590=)
NM_004415.4(DSP):c.4780C>G (p.Leu1594Val) rs149463707
NM_004415.4(DSP):c.4786G>A (p.Glu1596Lys)
NM_004415.4(DSP):c.4789G>T (p.Glu1597Ter) rs1259613160
NM_004415.4(DSP):c.478C>G (p.Arg160Gly)
NM_004415.4(DSP):c.478C>T (p.Arg160Ter) rs397516943
NM_004415.4(DSP):c.4790A>C (p.Glu1597Ala)
NM_004415.4(DSP):c.4791G>A (p.Glu1597=)
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.4813C>T (p.Leu1605=)
NM_004415.4(DSP):c.4815G>A (p.Leu1605=) rs2113694971
NM_004415.4(DSP):c.4818G>T (p.Lys1606Asn)
NM_004415.4(DSP):c.4820A>G (p.Glu1607Gly) rs1364445729
NM_004415.4(DSP):c.4821G>A (p.Glu1607=) rs1030367156
NM_004415.4(DSP):c.4822C>T (p.Gln1608Ter) rs1060500610
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.4842C>T (p.Asn1614=) rs757848942
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.4850dup (p.Gln1618fs)
NM_004415.4(DSP):c.485G>A (p.Arg162His) rs397516944
NM_004415.4(DSP):c.4866A>C (p.Ala1622=)
NM_004415.4(DSP):c.4868C>G (p.Ser1623Cys) rs908086952
NM_004415.4(DSP):c.4870A>G (p.Ile1624Val)
NM_004415.4(DSP):c.4875del (p.Lys1626fs)
NM_004415.4(DSP):c.4876_4880del (p.Lys1626fs) rs1759421816
NM_004415.4(DSP):c.4879_4883del (p.Lys1627fs)
NM_004415.4(DSP):c.4881G>A (p.Lys1627=)
NM_004415.4(DSP):c.4881G>T (p.Lys1627Asn)
NM_004415.4(DSP):c.4882_4886delinsTCTT (p.Arg1628fs)
NM_004415.4(DSP):c.4882_4886delinsTTCT (p.Arg1628fs) rs1554108410
NM_004415.4(DSP):c.4882del (p.Arg1628fs) rs2113695145
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.4897C>T (p.Leu1633Phe)
NM_004415.4(DSP):c.4898_4900del (p.Leu1633del)
NM_004415.4(DSP):c.4899C>T (p.Leu1633=) rs876657459
NM_004415.4(DSP):c.48C>A (p.Arg16=) rs755777329
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.4902del (p.Gln1635fs)
NM_004415.4(DSP):c.4908G>C (p.Gln1636His)
NM_004415.4(DSP):c.490_491insAGCTCGAGTCCCT (p.Ala164fs) rs1758603690
NM_004415.4(DSP):c.4916T>C (p.Val1639Ala)
NM_004415.4(DSP):c.4922A>G (p.Asp1641Gly) rs765847051
NM_004415.4(DSP):c.492C>G (p.Ala164=) rs2113659755
NM_004415.4(DSP):c.4935G>A (p.Arg1645=) rs751059120
NM_004415.4(DSP):c.4941del (p.Lys1647fs)
NM_004415.4(DSP):c.4946G>A (p.Arg1649Lys) rs2113695278
NM_004415.4(DSP):c.4948A>G (p.Thr1650Ala) rs2113695282
NM_004415.4(DSP):c.494G>A (p.Ser165Asn)
NM_004415.4(DSP):c.4951C>T (p.Gln1651Ter)
NM_004415.4(DSP):c.4953G>A (p.Gln1651=) rs2113695297
NM_004415.4(DSP):c.4954G>C (p.Glu1652Gln) rs267601119
NM_004415.4(DSP):c.4954del (p.Glu1652fs) rs1581818649
NM_004415.4(DSP):c.4954dup (p.Glu1652fs)
NM_004415.4(DSP):c.4969C>T (p.Leu1657Phe)
NM_004415.4(DSP):c.4971C>G (p.Leu1657=)
NM_004415.4(DSP):c.4973C>T (p.Ser1658Phe) rs202084959
NM_004415.4(DSP):c.4974_4975del (p.Ser1658_Ser1659insTer) rs1759426108
NM_004415.4(DSP):c.497C>T (p.Ser166Phe) rs1060500620
NM_004415.4(DSP):c.4994G>A (p.Arg1665Lys)
NM_004415.4(DSP):c.4994G>C (p.Arg1665Thr) rs1290867734
NM_004415.4(DSP):c.4999C>A (p.Gln1667Lys)
NM_004415.4(DSP):c.4999C>T (p.Gln1667Ter) rs1554108431
NM_004415.4(DSP):c.5004dup (p.Leu1669fs) rs2113695398
NM_004415.4(DSP):c.5006T>C (p.Leu1669Pro) rs776712810
NM_004415.4(DSP):c.5011del (p.Glu1671fs)
NM_004415.4(DSP):c.5014C>T (p.Gln1672Ter) rs786205416
NM_004415.4(DSP):c.5016G>A (p.Gln1672=) rs1759428613
NM_004415.4(DSP):c.5017G>A (p.Glu1673Lys)
NM_004415.4(DSP):c.501G>C (p.Lys167Asn)
NM_004415.4(DSP):c.5020dup (p.Ser1674fs) rs2113695431
NM_004415.4(DSP):c.5028_5031del (p.Gln1677fs)
NM_004415.4(DSP):c.502G>A (p.Gly168Ser) rs1308747530
NM_004415.4(DSP):c.5037C>G (p.His1679Gln)
NM_004415.4(DSP):c.5042G>A (p.Arg1681Lys) rs1274117174
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>A (p.Lys1687=)
NM_004415.4(DSP):c.5061G>C (p.Lys1687Asn) rs754404501
NM_004415.4(DSP):c.5063_5072del (p.Ala1688fs) rs2113695514
NM_004415.4(DSP):c.5064G>A (p.Ala1688=) rs886061747
NM_004415.4(DSP):c.5064G>T (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.5071G>A (p.Asp1691Asn)
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.5093A>G (p.Glu1698Gly)
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.5114G>T (p.Arg1705Met) rs1554108448
NM_004415.4(DSP):c.5115G>C (p.Arg1705Ser)
NM_004415.4(DSP):c.5116C>T (p.Leu1706=) rs1759432452
NM_004415.4(DSP):c.5120_5123del (p.Gln1707fs)
NM_004415.4(DSP):c.5123C>G (p.Ser1708Cys) rs372452104
NM_004415.4(DSP):c.5126_5127del (p.Leu1709fs)
NM_004415.4(DSP):c.512_513delinsAA (p.Gly171Glu) rs1758605814
NM_004415.4(DSP):c.5133_5134insC (p.Asn1712fs)
NM_004415.4(DSP):c.5135del (p.Asn1712fs)
NM_004415.4(DSP):c.5139G>A (p.Leu1713=) rs1759433301
NM_004415.4(DSP):c.5142C>G (p.Thr1714=) rs1275224079
NM_004415.4(DSP):c.5145G>A (p.Lys1715=)
NM_004415.4(DSP):c.5146G>T (p.Glu1716Ter)
NM_004415.4(DSP):c.5146del (p.Glu1716fs)
NM_004415.4(DSP):c.514T>C (p.Tyr172His)
NM_004415.4(DSP):c.5154del (p.Met1719fs)
NM_004415.4(DSP):c.5161GAA[2] (p.Glu1723del) rs730880091
NM_004415.4(DSP):c.5169A>G (p.Glu1723=) rs1368627358
NM_004415.4(DSP):c.5171T>C (p.Leu1724Pro) rs2113695726
NM_004415.4(DSP):c.5172G>C (p.Leu1724=) rs2113695733
NM_004415.4(DSP):c.5174G>A (p.Arg1725Gln) rs1759434677
NM_004415.4(DSP):c.5178C>T (p.Asn1726=)
NM_004415.4(DSP):c.5181G>A (p.Leu1727=) rs1172441662
NM_004415.4(DSP):c.5188G>A (p.Glu1730Lys) rs794727382
NM_004415.4(DSP):c.5188G>C (p.Glu1730Gln)
NM_004415.4(DSP):c.5196T>C (p.Asp1732=)
NM_004415.4(DSP):c.5205G>A (p.Arg1735=) rs1561700008
NM_004415.4(DSP):c.5209G>A (p.Gly1737Arg)
NM_004415.4(DSP):c.5210del (p.Gly1737fs) rs1581819043
NM_004415.4(DSP):c.5211A>G (p.Gly1737=) rs1581819049
NM_004415.4(DSP):c.5212C>G (p.Arg1738Gly) rs794728124
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.5225A>G (p.Asp1742Gly)
NM_004415.4(DSP):c.5227A>G (p.Ser1743Gly) rs1759437499
NM_004415.4(DSP):c.522T>A (p.Cys174Ter) rs144781697
NM_004415.4(DSP):c.523C>T (p.Gln175Ter) rs1581794029
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.5250G>A (p.Leu1750=)
NM_004415.4(DSP):c.5257A>C (p.Arg1753=) rs775072446
NM_004415.4(DSP):c.5259G>A (p.Arg1753=) rs2113695961
NM_004415.4(DSP):c.5262_5266dup (p.Leu1756fs)
NM_004415.4(DSP):c.5268G>A (p.Leu1756=)
NM_004415.4(DSP):c.5269C>T (p.Gln1757Ter) rs1554108477
NM_004415.4(DSP):c.526A>G (p.Ser176Gly) rs1426245453
NM_004415.4(DSP):c.5280C>A (p.Asn1760Lys)
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.5302G>A (p.Gly1768Arg)
NM_004415.4(DSP):c.5303G>T (p.Gly1768Val) rs2113696049
NM_004415.4(DSP):c.5303_5304dup (p.Leu1769fs)
NM_004415.4(DSP):c.5304G>A (p.Gly1768=)
NM_004415.4(DSP):c.5305C>A (p.Leu1769Met) rs946445410
NM_004415.4(DSP):c.5305C>T (p.Leu1769=)
NM_004415.4(DSP):c.5308A>G (p.Ile1770Val) rs2113696065
NM_004415.4(DSP):c.5309T>C (p.Ile1770Thr)
NM_004415.4(DSP):c.5318T>C (p.Leu1773Ser) rs2113696090
NM_004415.4(DSP):c.5318del (p.Leu1773fs) rs2113696088
NM_004415.4(DSP):c.5322G>C (p.Gln1774His)
NM_004415.4(DSP):c.5327A>G (p.Glu1776Gly) rs1363204936
NM_004415.4(DSP):c.5327_5330del (p.Glu1776fs) rs1394836623
NM_004415.4(DSP):c.5329_5330del (p.Arg1777fs)
NM_004415.4(DSP):c.5342G>T (p.Arg1781Ile)
NM_004415.4(DSP):c.5353G>A (p.Glu1785Lys) rs528041468
NM_004415.4(DSP):c.5355G>A (p.Glu1785=) rs546610553
NM_004415.4(DSP):c.5358A>C (p.Lys1786Asn)
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.5364A>G (p.Gln1788=)
NM_004415.4(DSP):c.5371G>A (p.Ala1791Thr) rs2113696199
NM_004415.4(DSP):c.5375T>A (p.Leu1792Ter)
NM_004415.4(DSP):c.5377G>C (p.Glu1793Gln)
NM_004415.4(DSP):c.5379+8C>G rs771984464
NM_004415.4(DSP):c.537C>T (p.Gly179=)
NM_004415.4(DSP):c.5380-16_5380-13del
NM_004415.4(DSP):c.5380-1G>C rs1759474600
NM_004415.4(DSP):c.5380-20_5380-13del
NM_004415.4(DSP):c.5380-6T>C
NM_004415.4(DSP):c.5380-8A>C
NM_004415.4(DSP):c.5384C>A (p.Ser1795Tyr)
NM_004415.4(DSP):c.5389dup (p.Arg1797fs) rs1759475221
NM_004415.4(DSP):c.5391G>A (p.Arg1797=) rs778745098
NM_004415.4(DSP):c.53T>A (p.Ile18Asn)
NM_004415.4(DSP):c.5413T>C (p.Cys1805Arg) rs746731287
NM_004415.4(DSP):c.5414G>T (p.Cys1805Phe) rs768161038
NM_004415.4(DSP):c.5428C>T (p.Gln1810Ter) rs397516946
NM_004415.4(DSP):c.5431G>T (p.Glu1811Ter) rs2113697854
NM_004415.4(DSP):c.5438_5441del (p.Glu1813fs)
NM_004415.4(DSP):c.5439G>C (p.Glu1813Asp) rs1759477469
NM_004415.4(DSP):c.5440_5441del (p.Ser1814fs)
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.5442C>T (p.Ser1814=)
NM_004415.4(DSP):c.5448G>C (p.Leu1816=) rs1270969886
NM_004415.4(DSP):c.5449G>A (p.Val1817Met)
NM_004415.4(DSP):c.5460_5466del (p.Val1821fs) rs1554108610
NM_004415.4(DSP):c.5460_5472del (p.Val1821fs) rs1759478436
NM_004415.4(DSP):c.5460dup (p.Val1821fs) rs1554108609
NM_004415.4(DSP):c.5462del (p.Val1821fs) rs2113697914
NM_004415.4(DSP):c.5481A>G (p.Ala1827=)
NM_004415.4(DSP):c.5483G>C (p.Arg1828Thr)
NM_004415.4(DSP):c.5484G>C (p.Arg1828Ser)
NM_004415.4(DSP):c.5489A>G (p.Gln1830Arg)
NM_004415.4(DSP):c.5489A>T (p.Gln1830Leu)
NM_004415.4(DSP):c.5492G>A (p.Arg1831Lys)
NM_004415.4(DSP):c.54C>T (p.Ile18=)
NM_004415.4(DSP):c.5504A>C (p.Glu1835Ala)
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.5517A>G (p.Ala1839=) rs764240800
NM_004415.4(DSP):c.5521T>C (p.Ser1841Pro)
NM_004415.4(DSP):c.5526T>C (p.Thr1842=) rs2113698060
NM_004415.4(DSP):c.5538A>C (p.Glu1846Asp)
NM_004415.4(DSP):c.5542del (p.Arg1848fs) rs1759482084
NM_004415.4(DSP):c.5544G>A (p.Arg1848=) rs727503004
NM_004415.4(DSP):c.5548A>C (p.Lys1850Gln)
NM_004415.4(DSP):c.5550_5557delinsGTG (p.Gln1851fs) rs1554108621
NM_004415.4(DSP):c.5551C>T (p.Gln1851Ter)
NM_004415.4(DSP):c.5553G>A (p.Gln1851=)
NM_004415.4(DSP):c.5555G>T (p.Arg1852Leu)
NM_004415.4(DSP):c.5560G>C (p.Glu1854Gln)
NM_004415.4(DSP):c.5563T>C (p.Cys1855Arg) rs1453126950
NM_004415.4(DSP):c.557A>G (p.His186Arg) rs1033990351
NM_004415.4(DSP):c.557A>T (p.His186Leu) rs1033990351
NM_004415.4(DSP):c.5584A>T (p.Asn1862Tyr) rs2113698216
NM_004415.4(DSP):c.5587G>A (p.Asp1863Asn)
NM_004415.4(DSP):c.5590C>A (p.Leu1864Met)
NM_004415.4(DSP):c.5598G>A (p.Gln1866=)
NM_004415.4(DSP):c.55C>T (p.Arg19Cys) rs777340009
NM_004415.4(DSP):c.5602A>C (p.Lys1868Gln)
NM_004415.4(DSP):c.5609A>G (p.Gln1870Arg)
NM_004415.4(DSP):c.5618G>T (p.Arg1873Leu) rs776088292
NM_004415.4(DSP):c.5620A>G (p.Lys1874Glu)
NM_004415.4(DSP):c.5633T>C (p.Ile1878Thr) rs1581820615
NM_004415.4(DSP):c.5635A>G (p.Arg1879Gly) rs1759488201
NM_004415.4(DSP):c.5642T>C (p.Ile1881Thr) rs1192963820
NM_004415.4(DSP):c.5648C>A (p.Ser1883Ter)
NM_004415.4(DSP):c.564C>T (p.Thr188=) rs2113659978
NM_004415.4(DSP):c.5656_5657del (p.Glu1886fs) rs1759489185
NM_004415.4(DSP):c.5659A>G (p.Lys1887Glu)
NM_004415.4(DSP):c.5661G>C (p.Lys1887Asn)
NM_004415.4(DSP):c.5664T>A (p.Ser1888Arg)
NM_004415.4(DSP):c.5664_5667del (p.Ser1888fs) rs1759489644
NM_004415.4(DSP):c.5669G>A (p.Arg1890Lys)
NM_004415.4(DSP):c.5669G>C (p.Arg1890Thr)
NM_004415.4(DSP):c.5671_5674del (p.Glu1891fs) rs1487814687
NM_004415.4(DSP):c.5673GAA[1] (p.Lys1892del)
NM_004415.4(DSP):c.5673_5674del (p.Lys1892fs) rs1487814687
NM_004415.4(DSP):c.5673_5674dup (p.Lys1892fs) rs1487814687
NM_004415.4(DSP):c.5674A>G (p.Lys1892Glu)
NM_004415.4(DSP):c.5678A>G (p.Asn1893Ser) rs2113698496
NM_004415.4(DSP):c.5679C>T (p.Asn1893=) rs1367738238
NM_004415.4(DSP):c.5680A>C (p.Ser1894Arg)
NM_004415.4(DSP):c.5680_5683del (p.Ser1894fs) rs774763657
NM_004415.4(DSP):c.5681G>C (p.Ser1894Thr)
NM_004415.4(DSP):c.5683C>G (p.Leu1895Val) rs1159494439
NM_004415.4(DSP):c.5688_5690del (p.Arg1896del) rs1561701244
NM_004415.4(DSP):c.568G>A (p.Glu190Lys) rs1758608184
NM_004415.4(DSP):c.5692G>C (p.Glu1898Gln)
NM_004415.4(DSP):c.5697C>G (p.Ile1899Met)
NM_004415.4(DSP):c.5697C>T (p.Ile1899=) rs879254348
NM_004415.4(DSP):c.56G>A (p.Arg19His) rs1757992558
NM_004415.4(DSP):c.5706C>G (p.Leu1902=) rs879254349
NM_004415.4(DSP):c.5706C>T (p.Leu1902=)
NM_004415.4(DSP):c.5709A>G (p.Gln1903=)
NM_004415.4(DSP):c.5711C>T (p.Ala1904Val) rs1473162721
NM_004415.4(DSP):c.572G>A (p.Cys191Tyr)
NM_004415.4(DSP):c.5731G>T (p.Glu1911Ter)
NM_004415.4(DSP):c.5734A>C (p.Arg1912=)
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.5738G>C (p.Cys1913Ser) rs755250746
NM_004415.4(DSP):c.573_576del (p.Cys191fs)
NM_004415.4(DSP):c.5743C>A (p.Arg1915Ser)
NM_004415.4(DSP):c.5743C>T (p.Arg1915Cys) rs1461028383
NM_004415.4(DSP):c.5745T>C (p.Arg1915=) rs2113698631
NM_004415.4(DSP):c.5745dup (p.Lys1916Ter) rs1060500607
NM_004415.4(DSP):c.5748G>A (p.Lys1916=)
NM_004415.4(DSP):c.575T>C (p.Leu192Ser)
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.5773C>T (p.Gln1925Ter) rs2113698710
NM_004415.4(DSP):c.5773_5774del (p.Gln1925fs) rs1561701401
NM_004415.4(DSP):c.5779C>T (p.Gln1927Ter)
NM_004415.4(DSP):c.5782_5785del (p.Leu1928fs)
NM_004415.4(DSP):c.5783T>G (p.Leu1928Ter)
NM_004415.4(DSP):c.5785G>A (p.Glu1929Lys)
NM_004415.4(DSP):c.5789C>G (p.Thr1930Arg) rs794728126
NM_004415.4(DSP):c.578G>A (p.Gly193Glu)
NM_004415.4(DSP):c.5790A>C (p.Thr1930=)
NM_004415.4(DSP):c.5798C>G (p.Ser1933Cys)
NM_004415.4(DSP):c.57C>A (p.Arg19=) rs2113628728
NM_004415.4(DSP):c.5800C>T (p.Arg1934Ter) rs121912996
NM_004415.4(DSP):c.5801G>A (p.Arg1934Gln)
NM_004415.4(DSP):c.5806C>T (p.Gln1936Ter) rs2113698797
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.582G>A (p.Trp194Ter)
NM_004415.4(DSP):c.5830C>T (p.Gln1944Ter) rs2113698863
NM_004415.4(DSP):c.5838A>G (p.Pro1946=)
NM_004415.4(DSP):c.5840A>G (p.Tyr1947Cys)
NM_004415.4(DSP):c.5840_5841dup (p.Gly1948fs)
NM_004415.4(DSP):c.5844G>A (p.Gly1948=)
NM_004415.4(DSP):c.5844G>C (p.Gly1948=)
NM_004415.4(DSP):c.5844G>T (p.Gly1948=)
NM_004415.4(DSP):c.5847C>A (p.Ser1949=) rs953031251
NM_004415.4(DSP):c.5850_5851delinsAT (p.His1950_Arg1951delinsGlnTer) rs2113698912
NM_004415.4(DSP):c.5851C>T (p.Arg1951Ter) rs869025395
NM_004415.4(DSP):c.5852G>A (p.Arg1951Gln)
NM_004415.4(DSP):c.5855del (p.Glu1952fs) rs1759501217
NM_004415.4(DSP):c.5859C>T (p.Thr1953=)
NM_004415.4(DSP):c.5869T>C (p.Cys1957Arg) rs2113698961
NM_004415.4(DSP):c.5874G>C (p.Glu1958Asp)
NM_004415.4(DSP):c.5877G>A (p.Trp1959Ter)
NM_004415.4(DSP):c.5887A>G (p.Thr1963Ala)
NM_004415.4(DSP):c.5887dup (p.Thr1963fs) rs2113699015
NM_004415.4(DSP):c.5892C>T (p.Ser1964=)
NM_004415.4(DSP):c.5896C>G (p.Leu1966Val) rs1554108700
NM_004415.4(DSP):c.5898G>A (p.Leu1966=) rs1026631797
NM_004415.4(DSP):c.5901G>T (p.Val1967=) rs2113699039
NM_004415.4(DSP):c.5907T>C (p.Asp1969=)
NM_004415.4(DSP):c.5910G>A (p.Gly1970=)
NM_004415.4(DSP):c.5916G>A (p.Arg1972=) rs1581821297
NM_004415.4(DSP):c.5918A>G (p.Lys1973Arg) rs376397314
NM_004415.4(DSP):c.591G>A (p.Gln197=) rs2113660086
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.5927C>T (p.Thr1976Ile)
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.5943dup (p.Glu1982Ter) rs2113699152
NM_004415.4(DSP):c.5958C>A (p.Ile1986=)
NM_004415.4(DSP):c.5964_5968del (p.Lys1988fs)
NM_004415.4(DSP):c.596G>T (p.Arg199Met)
NM_004415.4(DSP):c.597+15G>A
NM_004415.4(DSP):c.597+17A>G rs779437301
NM_004415.4(DSP):c.597+19A>C
NM_004415.4(DSP):c.597+1G>A rs2113660108
NM_004415.4(DSP):c.597+2T>C
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.5978A>G (p.Lys1993Arg) rs1561701766
NM_004415.4(DSP):c.598-13_598-8del
NM_004415.4(DSP):c.598-19C>G
NM_004415.4(DSP):c.598-19C>T
NM_004415.4(DSP):c.598-4G>T rs747448946
NM_004415.4(DSP):c.5982A>T (p.Leu1994=)
NM_004415.4(DSP):c.5987del (p.Lys1996fs) rs1759510200
NM_004415.4(DSP):c.5988G>A (p.Lys1996=)
NM_004415.4(DSP):c.5999_6011del (p.Ser2000fs)
NM_004415.4(DSP):c.5G>C (p.Ser2Thr)
NM_004415.4(DSP):c.6007G>A (p.Glu2003Lys)
NM_004415.4(DSP):c.600G>A (p.Ala200=) rs748400605
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.6021A>G (p.Glu2007=)
NM_004415.4(DSP):c.6028C>T (p.Pro2010Ser)
NM_004415.4(DSP):c.6034C>T (p.Leu2012Phe)
NM_004415.4(DSP):c.6037C>T (p.Arg2013Trp)
NM_004415.4(DSP):c.6038G>C (p.Arg2013Pro) rs557263443
NM_004415.4(DSP):c.603G>A (p.Glu201=) rs770080985
NM_004415.4(DSP):c.6041G>C (p.Gly2014Ala) rs1470983327
NM_004415.4(DSP):c.6045A>G (p.Ala2015=)
NM_004415.4(DSP):c.6046G>A (p.Gly2016Arg) rs1759513408
NM_004415.4(DSP):c.604A>G (p.Met202Val)
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.6063A>T (p.Ala2021=)
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.6068C>G (p.Ala2023Gly)
NM_004415.4(DSP):c.6069T>C (p.Ala2023=)
NM_004415.4(DSP):c.6072T>C (p.Ser2024=)
NM_004415.4(DSP):c.6072_6073insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGCATCTGCTTCT (p.Pro2025fs)
NM_004415.4(DSP):c.6073C>T (p.Pro2025Ser) rs1759514545
NM_004415.4(DSP):c.6075T>A (p.Pro2025=) rs2113699490
NM_004415.4(DSP):c.6084A>G (p.Lys2028=) rs2113699503
NM_004415.4(DSP):c.6084dup (p.Tyr2029fs) rs2113699501
NM_004415.4(DSP):c.6085dup (p.Tyr2029fs)
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.6090T>A (p.Ser2030=)
NM_004415.4(DSP):c.6091_6092del (p.Leu2031fs) rs397514040
NM_004415.4(DSP):c.6104A>C (p.Lys2035Thr)
NM_004415.4(DSP):c.6105G>A (p.Lys2035=) rs2113699553
NM_004415.4(DSP):c.6106A>G (p.Arg2036Gly) rs2113699558
NM_004415.4(DSP):c.6117A>G (p.Leu2039=)
NM_004415.4(DSP):c.6118A>G (p.Ile2040Val)
NM_004415.4(DSP):c.6120C>T (p.Ile2040=)
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.6136G>A (p.Val2046Ile)
NM_004415.4(DSP):c.6138C>A (p.Val2046=)
NM_004415.4(DSP):c.6146T>G (p.Leu2049Arg) rs1759516965
NM_004415.4(DSP):c.6160G>A (p.Ala2054Thr) rs1759517531
NM_004415.4(DSP):c.6166G>C (p.Gly2056Arg) rs780274878
NM_004415.4(DSP):c.616G>A (p.Ala206Thr) rs794728109
NM_004415.4(DSP):c.6171T>C (p.Gly2057=)
NM_004415.4(DSP):c.6176T>C (p.Ile2059Thr)
NM_004415.4(DSP):c.6179A>T (p.Asp2060Val)
NM_004415.4(DSP):c.6180T>A (p.Asp2060Glu)
NM_004415.4(DSP):c.6181C>G (p.Pro2061Ala) rs1561702055
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.6207C>G (p.Val2069=)
NM_004415.4(DSP):c.6208G>C (p.Asp2070His)
NM_004415.4(DSP):c.620G>A (p.Trp207Ter)
NM_004415.4(DSP):c.620G>C (p.Trp207Ser) rs1445705079
NM_004415.4(DSP):c.6210C>T (p.Asp2070=)
NM_004415.4(DSP):c.6214G>A (p.Ala2072Thr) rs1759520180
NM_004415.4(DSP):c.6219A>G (p.Ile2073Met)
NM_004415.4(DSP):c.6222T>G (p.Ala2074=) rs1759520376
NM_004415.4(DSP):c.6224G>T (p.Arg2075Leu)
NM_004415.4(DSP):c.6231C>T (p.Leu2077=)
NM_004415.4(DSP):c.6237C>T (p.Asp2079=) rs1309030788
NM_004415.4(DSP):c.623del (p.Gly208fs) rs2113665067
NM_004415.4(DSP):c.6243T>C (p.Asp2081=) rs1759521514
NM_004415.4(DSP):c.6247C>G (p.Arg2083Gly) rs370093129
NM_004415.4(DSP):c.6253C>T (p.Gln2085Ter)
NM_004415.4(DSP):c.6260A>G (p.Tyr2087Cys) rs1244910374
NM_004415.4(DSP):c.6262G>T (p.Ala2088Ser)
NM_004415.4(DSP):c.6262del (p.Ala2088fs) rs1759522381
NM_004415.4(DSP):c.6273del (p.Ala2092fs) rs794728146
NM_004415.4(DSP):c.6275C>T (p.Ala2092Val) rs876657796
NM_004415.4(DSP):c.6278T>C (p.Ile2093Thr)
NM_004415.4(DSP):c.6280A>G (p.Thr2094Ala)
NM_004415.4(DSP):c.6288dup (p.Asp2097Ter) rs2113699911
NM_004415.4(DSP):c.6294T>C (p.Asp2098=)
NM_004415.4(DSP):c.6295_6296delinsAT (p.Pro2099Ile) rs587782942
NM_004415.4(DSP):c.6297A>G (p.Pro2099=) rs1759525136
NM_004415.4(DSP):c.6305G>T (p.Gly2102Val)
NM_004415.4(DSP):c.6306C>T (p.Gly2102=)
NM_004415.4(DSP):c.630C>T (p.Asp210=) rs2113665093
NM_004415.4(DSP):c.6312A>G (p.Thr2104=)
NM_004415.4(DSP):c.6318del (p.Val2107fs) rs2113699991
NM_004415.4(DSP):c.631C>G (p.Leu211Val)
NM_004415.4(DSP):c.6320T>C (p.Val2107Ala)
NM_004415.4(DSP):c.6328G>T (p.Ala2110Ser)
NM_004415.4(DSP):c.6335A>G (p.Lys2112Arg)
NM_004415.4(DSP):c.6340A>G (p.Asn2114Asp) rs561452524
NM_004415.4(DSP):c.6343T>G (p.Leu2115Val) rs1484456213
NM_004415.4(DSP):c.6352A>G (p.Arg2118Gly) rs1311515571
NM_004415.4(DSP):c.6353G>C (p.Arg2118Thr)
NM_004415.4(DSP):c.6354A>G (p.Arg2118=)
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.6375G>A (p.Leu2125=) rs2113700156
NM_004415.4(DSP):c.6378A>G (p.Glu2126=)
NM_004415.4(DSP):c.6382C>T (p.Gln2128Ter) rs2113700191
NM_004415.4(DSP):c.6392C>T (p.Ser2131Leu)
NM_004415.4(DSP):c.6393del (p.Gly2133fs) rs730880093
NM_004415.4(DSP):c.6395G>A (p.Gly2132Glu)
NM_004415.4(DSP):c.6398dup (p.Val2134fs) rs794728147
NM_004415.4(DSP):c.63G>A (p.Glu21=)
NM_004415.4(DSP):c.6408C>T (p.Asp2136=) rs771641035
NM_004415.4(DSP):c.6409C>A (p.Pro2137Thr) rs2113700303
NM_004415.4(DSP):c.6417C>T (p.Asn2139=)
NM_004415.4(DSP):c.6421G>A (p.Val2141Ile)
NM_004415.4(DSP):c.6422T>G (p.Val2141Gly) rs1759532262
NM_004415.4(DSP):c.6432A>G (p.Pro2144=) rs773730187
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.6453G>A (p.Arg2151=)
NM_004415.4(DSP):c.6454G>C (p.Gly2152Arg)
NM_004415.4(DSP):c.6456G>A (p.Gly2152=)
NM_004415.4(DSP):c.6456dup (p.Leu2153fs) rs1554108854
NM_004415.4(DSP):c.6459G>A (p.Leu2153=)
NM_004415.4(DSP):c.645G>C (p.Glu215Asp)
NM_004415.4(DSP):c.6460A>G (p.Ile2154Val)
NM_004415.4(DSP):c.6461T>C (p.Ile2154Thr) rs2113700418
NM_004415.4(DSP):c.6466dup (p.Arg2156fs) rs1554108859
NM_004415.4(DSP):c.646dup (p.Gln216fs) rs2113665124
NM_004415.4(DSP):c.6470A>G (p.Asp2157Gly) rs2113700447
NM_004415.4(DSP):c.6472T>C (p.Leu2158=) rs1455927842
NM_004415.4(DSP):c.6473del (p.Leu2158fs)
NM_004415.4(DSP):c.6475T>C (p.Tyr2159His)
NM_004415.4(DSP):c.6477T>C (p.Tyr2159=) rs1014118868
NM_004415.4(DSP):c.6478C>T (p.Arg2160Ter) rs777573018
NM_004415.4(DSP):c.6479G>C (p.Arg2160Pro) rs146642551
NM_004415.4(DSP):c.647A>C (p.Gln216Pro) rs1758736357
NM_004415.4(DSP):c.6480A>T (p.Arg2160=)
NM_004415.4(DSP):c.6482C>T (p.Ser2161Phe)
NM_004415.4(DSP):c.6483C>G (p.Ser2161=) rs560775653
NM_004415.4(DSP):c.6485T>C (p.Leu2162Pro)
NM_004415.4(DSP):c.6494C>T (p.Pro2165Leu) rs1759535966
NM_004415.4(DSP):c.6495C>G (p.Pro2165=)
NM_004415.4(DSP):c.6496C>T (p.Arg2166Ter) rs141026028
NM_004415.4(DSP):c.6498dup (p.Asp2167fs)
NM_004415.4(DSP):c.64T>C (p.Ser22Pro) rs2113628752
NM_004415.4(DSP):c.6501T>C (p.Asp2167=) rs2113700524
NM_004415.4(DSP):c.6504_6507del (p.Ser2168fs) rs1561702640
NM_004415.4(DSP):c.6505C>G (p.Gln2169Glu) rs1561702645
NM_004415.4(DSP):c.6510_6511insCT (p.Asn2171fs) rs794728148
NM_004415.4(DSP):c.6512A>C (p.Asn2171Thr)
NM_004415.4(DSP):c.6516del (p.Phe2172fs)
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>T (p.Ile218Phe)
NM_004415.4(DSP):c.6530C>A (p.Thr2177Asn)
NM_004415.4(DSP):c.6536del (p.Lys2179fs)
NM_004415.4(DSP):c.6545G>T (p.Ser2182Ile)
NM_004415.4(DSP):c.6547T>C (p.Tyr2183His) rs763549172
NM_004415.4(DSP):c.6550G>C (p.Val2184Leu)
NM_004415.4(DSP):c.6551T>A (p.Val2184Glu)
NM_004415.4(DSP):c.6552G>T (p.Val2184=) rs2113700626
NM_004415.4(DSP):c.6555G>A (p.Gln2185=) rs1759540115
NM_004415.4(DSP):c.6562del (p.Glu2188fs) rs2113700654
NM_004415.4(DSP):c.6563_6566dup (p.Cys2190fs)
NM_004415.4(DSP):c.6564A>C (p.Glu2188Asp)
NM_004415.4(DSP):c.6565C>A (p.Arg2189=)
NM_004415.4(DSP):c.6565C>G (p.Arg2189Gly)
NM_004415.4(DSP):c.6567G>T (p.Arg2189=)
NM_004415.4(DSP):c.6569G>T (p.Cys2190Phe) rs1276738564
NM_004415.4(DSP):c.6570C>T (p.Cys2190=)
NM_004415.4(DSP):c.6572G>A (p.Arg2191Lys) rs527888978
NM_004415.4(DSP):c.6576C>T (p.Ile2192=) rs1032400756
NM_004415.4(DSP):c.6577G>A (p.Glu2193Lys) rs397516952
NM_004415.4(DSP):c.6583_6584del (p.His2195fs) rs1561702771
NM_004415.4(DSP):c.6584A>G (p.His2195Arg)
NM_004415.4(DSP):c.6586A>G (p.Thr2196Ala) rs2113700741
NM_004415.4(DSP):c.6590G>A (p.Gly2197Asp)
NM_004415.4(DSP):c.6592C>T (p.Leu2198=) rs752057967
NM_004415.4(DSP):c.6595C>G (p.Leu2199Val)
NM_004415.4(DSP):c.6597C>G (p.Leu2199=)
NM_004415.4(DSP):c.65C>G (p.Ser22Cys)
NM_004415.4(DSP):c.6603T>G (p.Leu2201=) rs758152190
NM_004415.4(DSP):c.6605del (p.Leu2201_Ser2202insTer)
NM_004415.4(DSP):c.6614A>G (p.Lys2205Arg)
NM_004415.4(DSP):c.6620G>C (p.Ser2207Thr)
NM_004415.4(DSP):c.6630C>T (p.Phe2210=)
NM_004415.4(DSP):c.663C>G (p.His221Gln) rs1561683654
NM_004415.4(DSP):c.6640A>C (p.Arg2214=)
NM_004415.4(DSP):c.6643C>A (p.Gln2215Lys)
NM_004415.4(DSP):c.6646C>T (p.Pro2216Ser)
NM_004415.4(DSP):c.6648T>G (p.Pro2216=)
NM_004415.4(DSP):c.6654C>G (p.Thr2218=) rs727503005
NM_004415.4(DSP):c.6657C>T (p.Val2219=)
NM_004415.4(DSP):c.665G>T (p.Arg222Leu)
NM_004415.4(DSP):c.6667G>A (p.Val2223Ile)
NM_004415.4(DSP):c.6669A>T (p.Val2223=)
NM_004415.4(DSP):c.666G>A (p.Arg222=)
NM_004415.4(DSP):c.666G>T (p.Arg222=) rs2113665201
NM_004415.4(DSP):c.6675T>C (p.Ser2225=) rs2113700866
NM_004415.4(DSP):c.6693_6699del (p.Thr2232fs)
NM_004415.4(DSP):c.6695_6696del (p.Thr2232fs)
NM_004415.4(DSP):c.6697_6698del (p.Val2233fs) rs2113700906
NM_004415.4(DSP):c.6701A>T (p.Asn2234Ile)
NM_004415.4(DSP):c.6702T>C (p.Asn2234=) rs2113700924
NM_004415.4(DSP):c.6708G>A (p.Leu2236=)
NM_004415.4(DSP):c.6718C>A (p.Gln2240Lys) rs374262024
NM_004415.4(DSP):c.6723T>A (p.Ile2241=) rs1219037519
NM_004415.4(DSP):c.6729T>C (p.Tyr2243=)
NM_004415.4(DSP):c.6732C>G (p.Asp2244Glu)
NM_004415.4(DSP):c.6744G>A (p.Glu2248=) rs1581822997
NM_004415.4(DSP):c.6765G>T (p.Gln2255His) rs766183320
NM_004415.4(DSP):c.6766_6767insTG (p.Gly2256fs) rs2113701020
NM_004415.4(DSP):c.6767del (p.Gly2256fs) rs1759546885
NM_004415.4(DSP):c.6769T>G (p.Ser2257Ala) rs1759547079
NM_004415.4(DSP):c.6771A>G (p.Ser2257=) rs2113701029
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.6792C>A (p.Tyr2264Ter)
NM_004415.4(DSP):c.67G>A (p.Gly23Ser) rs1757993019
NM_004415.4(DSP):c.6818G>A (p.Gly2273Asp)
NM_004415.4(DSP):c.6824A>C (p.Tyr2275Ser)
NM_004415.4(DSP):c.6826G>A (p.Glu2276Lys)
NM_004415.4(DSP):c.6827A>G (p.Glu2276Gly)
NM_004415.4(DSP):c.6828G>A (p.Glu2276=) rs2113701105
NM_004415.4(DSP):c.682A>G (p.Ile228Val) rs934038992
NM_004415.4(DSP):c.6832A>G (p.Met2278Val)
NM_004415.4(DSP):c.6843C>T (p.Gly2281=)
NM_004415.4(DSP):c.6849C>G (p.Val2283=) rs2113701124
NM_004415.4(DSP):c.684C>A (p.Ile228=)
NM_004415.4(DSP):c.684C>T (p.Ile228=) rs753444512
NM_004415.4(DSP):c.6850C>T (p.Arg2284Ter) rs794728130
NM_004415.4(DSP):c.6851G>A (p.Arg2284Gln)
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.6865C>T (p.Leu2289=)
NM_004415.4(DSP):c.6871T>C (p.Leu2291=)
NM_004415.4(DSP):c.6873G>A (p.Leu2291=)
NM_004415.4(DSP):c.6885A>G (p.Gln2295=)
NM_004415.4(DSP):c.688G>T (p.Asp230Tyr)
NM_004415.4(DSP):c.6894T>C (p.Thr2298=)
NM_004415.4(DSP):c.6895G>A (p.Gly2299Ser) rs1561703092
NM_004415.4(DSP):c.6896G>C (p.Gly2299Ala)
NM_004415.4(DSP):c.6918C>T (p.Ser2306=) rs1275471884
NM_004415.4(DSP):c.6919A>G (p.Asn2307Asp) rs1055504283
NM_004415.4(DSP):c.6937G>A (p.Glu2313Lys) rs1411539976
NM_004415.4(DSP):c.6937del (p.Glu2313fs) rs794728143
NM_004415.4(DSP):c.6945C>A (p.Ala2315=) rs761888068
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.6953G>C (p.Arg2318Thr) rs773192441
NM_004415.4(DSP):c.6954_6955del (p.Gly2319fs) rs1554108929
NM_004415.4(DSP):c.6955G>A (p.Gly2319Ser)
NM_004415.4(DSP):c.6963G>A (p.Val2321=) rs2113701399
NM_004415.4(DSP):c.6967A>C (p.Ile2323Leu) rs1759554116
NM_004415.4(DSP):c.6969T>C (p.Ile2323=)
NM_004415.4(DSP):c.6972G>A (p.Glu2324=) rs2113701409
NM_004415.4(DSP):c.6974T>G (p.Phe2325Cys) rs1349503429
NM_004415.4(DSP):c.698G>A (p.Trp233Ter)
NM_004415.4(DSP):c.6993T>C (p.Ser2331=) rs767282172
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.7001G>A (p.Arg2334Gln)
NM_004415.4(DSP):c.7009A>G (p.Thr2337Ala)
NM_004415.4(DSP):c.700C>T (p.Gln234Ter) rs1758740270
NM_004415.4(DSP):c.7014G>A (p.Gly2338=) rs1054965369
NM_004415.4(DSP):c.7017T>C (p.Tyr2339=) rs753946358
NM_004415.4(DSP):c.7021G>A (p.Asp2341Asn) rs200314271
NM_004415.4(DSP):c.7026T>C (p.Pro2342=)
NM_004415.4(DSP):c.7031C>G (p.Thr2344Arg)
NM_004415.4(DSP):c.7033G>C (p.Gly2345Arg)
NM_004415.4(DSP):c.7034G>A (p.Gly2345Glu)
NM_004415.4(DSP):c.7034G>T (p.Gly2345Val)
NM_004415.4(DSP):c.7037A>G (p.Asn2346Ser)
NM_004415.4(DSP):c.7039A>C (p.Ile2347Leu) rs768837509
NM_004415.4(DSP):c.7039ATC[1] (p.Ile2348del)
NM_004415.4(DSP):c.7044C>T (p.Ile2348=) rs2113701537
NM_004415.4(DSP):c.7045T>C (p.Ser2349Pro)
NM_004415.4(DSP):c.7048T>G (p.Leu2350Val)
NM_004415.4(DSP):c.7054C>T (p.Gln2352Ter)
NM_004415.4(DSP):c.7069G>C (p.Glu2357Gln)
NM_004415.4(DSP):c.706G>C (p.Asp236His) rs1044634464
NM_004415.4(DSP):c.7075del (p.Ile2359fs) rs1561703363
NM_004415.4(DSP):c.7077C>A (p.Ile2359=)
NM_004415.4(DSP):c.7078G>A (p.Glu2360Lys)
NM_004415.4(DSP):c.7082dup (p.His2363fs) rs2113701589
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.7096C>T (p.Arg2366Cys) rs28931610
NM_004415.4(DSP):c.7097G>A (p.Arg2366His) rs387906618
NM_004415.4(DSP):c.7105G>A (p.Glu2369Lys)
NM_004415.4(DSP):c.7112A>C (p.Gln2371Pro)
NM_004415.4(DSP):c.7113_7119del (p.Ile2372fs)
NM_004415.4(DSP):c.7120A>G (p.Thr2374Ala) rs1759559299
NM_004415.4(DSP):c.7127_7128del (p.Gly2376fs)
NM_004415.4(DSP):c.7128G>A (p.Gly2376=)
NM_004415.4(DSP):c.7129_7152del (p.Ile2377_His2384del) rs2113701695
NM_004415.4(DSP):c.712dup (p.Ile238fs) rs397516956
NM_004415.4(DSP):c.7131C>A (p.Ile2377=) rs1581823562
NM_004415.4(DSP):c.7154G>A (p.Arg2385His) rs1396768987
NM_004415.4(DSP):c.7163T>C (p.Val2388Ala)
NM_004415.4(DSP):c.7167C>T (p.Asp2389=) rs2113701740
NM_004415.4(DSP):c.716A>G (p.Lys239Arg)
NM_004415.4(DSP):c.7176T>C (p.Tyr2392=)
NM_004415.4(DSP):c.7177A>C (p.Lys2393Gln)
NM_004415.4(DSP):c.7179G>T (p.Lys2393Asn) rs1759561425
NM_004415.4(DSP):c.717A>G (p.Lys239=)
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.71C>G (p.Pro24Arg) rs978383808
NM_004415.4(DSP):c.71C>T (p.Pro24Leu) rs978383808
NM_004415.4(DSP):c.7204A>G (p.Ser2402Gly)
NM_004415.4(DSP):c.7205G>C (p.Ser2402Thr)
NM_004415.4(DSP):c.7213C>T (p.Leu2405Phe) rs774401264
NM_004415.4(DSP):c.7214_7217del (p.Leu2405fs)
NM_004415.4(DSP):c.7217C>G (p.Ser2406Ter) rs2113701867
NM_004415.4(DSP):c.7223C>A (p.Pro2408Gln) rs2113701876
NM_004415.4(DSP):c.7224A>C (p.Pro2408=) rs376081052
NM_004415.4(DSP):c.7240G>T (p.Gly2414Ter) rs1194358112
NM_004415.4(DSP):c.7246T>C (p.Phe2416Leu) rs2113701908
NM_004415.4(DSP):c.7248del (p.Phe2416fs) rs730880024
NM_004415.4(DSP):c.7249G>A (p.Asp2417Asn)
NM_004415.4(DSP):c.7254dup (p.Asn2419fs)
NM_004415.4(DSP):c.7256A>C (p.Asn2419Thr)
NM_004415.4(DSP):c.726+11G>A
NM_004415.4(DSP):c.726+19T>C
NM_004415.4(DSP):c.726+20T>G
NM_004415.4(DSP):c.726+5T>G
NM_004415.4(DSP):c.726+9_726+12del
NM_004415.4(DSP):c.7268A>G (p.Asn2423Ser)
NM_004415.4(DSP):c.7269T>C (p.Asn2423=) rs1759564582
NM_004415.4(DSP):c.726G>A (p.Leu242=)
NM_004415.4(DSP):c.727-11T>C rs886061745
NM_004415.4(DSP):c.727-12del rs2113666826
NM_004415.4(DSP):c.727-13T>C rs1293172796
NM_004415.4(DSP):c.727-14_727-13del
NM_004415.4(DSP):c.727-20T>G
NM_004415.4(DSP):c.727-5_727-3del
NM_004415.4(DSP):c.727-6T>C
NM_004415.4(DSP):c.727-9G>C
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.7293_7296del (p.Glu2431fs)
NM_004415.4(DSP):c.7295G>T (p.Arg2432Ile)
NM_004415.4(DSP):c.7299C>T (p.Cys2433=) rs2113702040
NM_004415.4(DSP):c.729C>G (p.Arg243=) rs141028505
NM_004415.4(DSP):c.729del (p.Glu244fs)
NM_004415.4(DSP):c.7305G>C (p.Lys2435Asn) rs1554108998
NM_004415.4(DSP):c.7307A>T (p.Asp2436Val)
NM_004415.4(DSP):c.7320G>C (p.Gly2440=)
NM_004415.4(DSP):c.7322T>C (p.Leu2441Pro)
NM_004415.4(DSP):c.7325_7326del (p.Cys2442fs)
NM_004415.4(DSP):c.7327C>T (p.Leu2443Phe) rs864309585
NM_004415.4(DSP):c.7335T>A (p.Pro2445=) rs1262869578
NM_004415.4(DSP):c.7339A>G (p.Lys2447Glu) rs1759567175
NM_004415.4(DSP):c.7346A>C (p.Lys2449Thr) rs1581823888
NM_004415.4(DSP):c.7347GAA[1] (p.Lys2451del) rs766860183
NM_004415.4(DSP):c.7359G>A (p.Val2453=) rs2113702163
NM_004415.4(DSP):c.735A>G (p.Lys245=)
NM_004415.4(DSP):c.7360C>G (p.Gln2454Glu) rs373890201
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.7372_7373del (p.Lys2458fs) rs1581823931
NM_004415.4(DSP):c.7374G>T (p.Lys2458Asn)
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.7393_7400del (p.Arg2465fs) rs2113702255
NM_004415.4(DSP):c.7394G>C (p.Arg2465Thr)
NM_004415.4(DSP):c.7399G>T (p.Val2467Phe)
NM_004415.4(DSP):c.73G>T (p.Asp25Tyr) rs2113628779
NM_004415.4(DSP):c.7410C>T (p.Asp2470=) rs2113702276
NM_004415.4(DSP):c.7418C>T (p.Thr2473Ile) rs1389902511
NM_004415.4(DSP):c.741G>C (p.Ala247=)
NM_004415.4(DSP):c.7420A>T (p.Asn2474Tyr)
NM_004415.4(DSP):c.7421A>G (p.Asn2474Ser) rs1759570598
NM_004415.4(DSP):c.7426G>A (p.Glu2476Lys)
NM_004415.4(DSP):c.7427A>G (p.Glu2476Gly)
NM_004415.4(DSP):c.742A>G (p.Ile248Val)
NM_004415.4(DSP):c.743T>C (p.Ile248Thr) rs1455602530
NM_004415.4(DSP):c.7443G>A (p.Glu2481=) rs2113702324
NM_004415.4(DSP):c.7449C>T (p.Tyr2483=)
NM_004415.4(DSP):c.7456G>A (p.Gly2486Ser)
NM_004415.4(DSP):c.7458C>T (p.Gly2486=) rs1049252239
NM_004415.4(DSP):c.7469del (p.Tyr2490fs) rs1581824066
NM_004415.4(DSP):c.7470T>G (p.Tyr2490Ter)
NM_004415.4(DSP):c.7477T>G (p.Phe2493Val) rs138798656
NM_004415.4(DSP):c.7480A>G (p.Lys2494Glu)
NM_004415.4(DSP):c.7481A>G (p.Lys2494Arg)
NM_004415.4(DSP):c.7488G>C (p.Leu2496=)
NM_004415.4(DSP):c.7497G>A (p.Gln2499=)
NM_004415.4(DSP):c.7498del (p.Glu2500fs)
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.7521C>T (p.Thr2507=)
NM_004415.4(DSP):c.7526C>T (p.Thr2509Met)
NM_004415.4(DSP):c.7528G>A (p.Gly2510Arg)
NM_004415.4(DSP):c.7529del (p.Gly2510fs) rs2113702487
NM_004415.4(DSP):c.7534G>C (p.Asp2512His)
NM_004415.4(DSP):c.7541C>T (p.Ser2514Phe)
NM_004415.4(DSP):c.7543_7544delinsCGTGGTATCTGGGAGGCCTACAAGAAGGGCCTAATTGATTATGAAACCTTCAAAGAACTGTGTGAGCAGGAATGTGAATGGGAAGAAATAACCATCACGGGATCAGATGGCTCCCGTGGTAA (p.Thr2515delinsArgGlyIleTrpGluAlaTyrLysLysGlyLeuIleAspTyrGluThrPheLysGluLeuCysGluGlnGluCysGluTrpGluGluIleThrIleThrGlySerAspGlySerArgGlyAsn) rs2113702542
NM_004415.4(DSP):c.7546A>C (p.Arg2516=)
NM_004415.4(DSP):c.7554C>A (p.Val2518=) rs573057380
NM_004415.4(DSP):c.7554C>T (p.Val2518=)
NM_004415.4(DSP):c.7557G>A (p.Leu2519=) rs397516957
NM_004415.4(DSP):c.7557G>T (p.Leu2519=)
NM_004415.4(DSP):c.7563_7566del (p.Asp2521fs) rs1320456072
NM_004415.4(DSP):c.7567_7570del (p.Lys2523fs) rs1759580297
NM_004415.4(DSP):c.7570_7573del (p.Thr2524fs) rs1561703922
NM_004415.4(DSP):c.7579C>G (p.Gln2527Glu) rs2113702673
NM_004415.4(DSP):c.7581G>A (p.Gln2527=) rs879254350
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.7608G>A (p.Lys2536=) rs2113702785
NM_004415.4(DSP):c.7610G>A (p.Gly2537Asp)
NM_004415.4(DSP):c.7610G>T (p.Gly2537Val)
NM_004415.4(DSP):c.7611C>T (p.Gly2537=)
NM_004415.4(DSP):c.7615G>A (p.Val2539Ile)
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.7621A>C (p.Arg2541=)
NM_004415.4(DSP):c.7623del (p.Lys2542fs) rs397514039
NM_004415.4(DSP):c.762G>T (p.Glu254Asp) rs1406835654
NM_004415.4(DSP):c.7633G>T (p.Asp2545Tyr)
NM_004415.4(DSP):c.7635T>G (p.Asp2545Glu) rs1759584844
NM_004415.4(DSP):c.7636C>G (p.Gln2546Glu)
NM_004415.4(DSP):c.7638G>A (p.Gln2546=)
NM_004415.4(DSP):c.7641C>T (p.Tyr2547=)
NM_004415.4(DSP):c.7642C>G (p.Arg2548Gly)
NM_004415.4(DSP):c.7642C>T (p.Arg2548Ter) rs146296069
NM_004415.4(DSP):c.7643G>A (p.Arg2548Gln) rs377565339
NM_004415.4(DSP):c.7646C>T (p.Ser2549Phe)
NM_004415.4(DSP):c.7647C>T (p.Ser2549=) rs765385403
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.7650C>G (p.Gly2550=)
NM_004415.4(DSP):c.7652GCCTCA[3] (p.Leu2554_Thr2555insSerLeu)
NM_004415.4(DSP):c.7656C>G (p.Leu2552=)
NM_004415.4(DSP):c.7656C>T (p.Leu2552=) rs954061184
NM_004415.4(DSP):c.7657A>G (p.Ser2553Gly) rs769601021
NM_004415.4(DSP):c.7662del (p.Thr2555fs)
NM_004415.4(DSP):c.7665T>A (p.Thr2555=)
NM_004415.4(DSP):c.7667A>T (p.Gln2556Leu) rs760434412
NM_004415.4(DSP):c.7668A>G (p.Gln2556=)
NM_004415.4(DSP):c.7675G>A (p.Asp2559Asn) rs2113702999
NM_004415.4(DSP):c.7678A>T (p.Met2560Leu)
NM_004415.4(DSP):c.7679T>C (p.Met2560Thr)
NM_004415.4(DSP):c.7685_7687del (p.Ser2562del) rs762495630
NM_004415.4(DSP):c.7689G>C (p.Leu2563Phe)
NM_004415.4(DSP):c.7689_7694dup (p.Lys2564_Asn2565insLysLys) rs1554109062
NM_004415.4(DSP):c.7692A>C (p.Lys2564Asn)
NM_004415.4(DSP):c.7699G>A (p.Val2567Ile)
NM_004415.4(DSP):c.769A>G (p.Asn257Asp) rs1758773914
NM_004415.4(DSP):c.7701C>G (p.Val2567=)
NM_004415.4(DSP):c.7706C>A (p.Thr2569Asn)
NM_004415.4(DSP):c.7706C>T (p.Thr2569Ile) rs770464104
NM_004415.4(DSP):c.7708A>G (p.Ser2570Gly) rs1456123705
NM_004415.4(DSP):c.7716C>T (p.Ser2572=) rs773824736
NM_004415.4(DSP):c.7718T>C (p.Met2573Thr) rs1759589574
NM_004415.4(DSP):c.7725T>C (p.Ser2575=)
NM_004415.4(DSP):c.7728T>G (p.Gly2576=) rs545149894
NM_004415.4(DSP):c.7735G>C (p.Asp2579His) rs750744914
NM_004415.4(DSP):c.7736A>T (p.Asp2579Val)
NM_004415.4(DSP):c.7738del (p.Asp2580fs)
NM_004415.4(DSP):c.7741G>A (p.Val2581Ile)
NM_004415.4(DSP):c.7745_7746del (p.Val2581_Phe2582insTer)
NM_004415.4(DSP):c.7747A>C (p.Ser2583Arg)
NM_004415.4(DSP):c.774G>A (p.Leu258=)
NM_004415.4(DSP):c.7750A>G (p.Ser2584Gly)
NM_004415.4(DSP):c.7752C>T (p.Ser2584=) rs1554109092
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.7756C>T (p.Arg2586Ter)
NM_004415.4(DSP):c.7758A>G (p.Arg2586=) rs1581824761
NM_004415.4(DSP):c.7762G>T (p.Glu2588Ter)
NM_004415.4(DSP):c.776T>C (p.Leu259Pro) rs1758774627
NM_004415.4(DSP):c.777+19C>T
NM_004415.4(DSP):c.777+2T>C
NM_004415.4(DSP):c.777+5G>A
NM_004415.4(DSP):c.777+7T>C
NM_004415.4(DSP):c.7773_7776del (p.Ser2591fs) rs763560697
NM_004415.4(DSP):c.7779T>A (p.Ile2593=)
NM_004415.4(DSP):c.778-11C>A
NM_004415.4(DSP):c.778-11C>T rs766022259
NM_004415.4(DSP):c.778-12C>T
NM_004415.4(DSP):c.778-15G>A rs2113669114
NM_004415.4(DSP):c.778-20C>A
NM_004415.4(DSP):c.778-2A>G rs113726158
NM_004415.4(DSP):c.778-4G>C rs1296932263
NM_004415.4(DSP):c.778-6G>A
NM_004415.4(DSP):c.778-6G>T rs1561685227
NM_004415.4(DSP):c.7809C>T (p.Thr2603=)
NM_004415.4(DSP):c.780A>G (p.Lys260=) rs1554106489
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.7820del (p.Ser2607fs) rs2113703361
NM_004415.4(DSP):c.7823C>A (p.Ser2608Tyr) rs777066674
NM_004415.4(DSP):c.7823C>T (p.Ser2608Phe) rs777066674
NM_004415.4(DSP):c.7829C>G (p.Ser2610Ter) rs1163244913
NM_004415.4(DSP):c.7832A>T (p.Asp2611Val)
NM_004415.4(DSP):c.7833C>T (p.Asp2611=)
NM_004415.4(DSP):c.7836C>G (p.Thr2612=)
NM_004415.4(DSP):c.7837C>G (p.Leu2613Val) rs1286275087
NM_004415.4(DSP):c.7837C>T (p.Leu2613=) rs1286275087
NM_004415.4(DSP):c.7839G>A (p.Leu2613=) rs770324205
NM_004415.4(DSP):c.7845A>C (p.Glu2615Asp) rs1367058874
NM_004415.4(DSP):c.785C>T (p.Ser262Phe)
NM_004415.4(DSP):c.7861G>A (p.Ala2621Thr) rs1554109107
NM_004415.4(DSP):c.7868T>G (p.Phe2623Cys)
NM_004415.4(DSP):c.7873dup (p.Thr2625fs) rs794728149
NM_004415.4(DSP):c.7874_7875del (p.Thr2625fs) rs1561704475
NM_004415.4(DSP):c.7876_7877del (p.Glu2626fs)
NM_004415.4(DSP):c.7886A>G (p.Glu2629Gly)
NM_004415.4(DSP):c.7893C>A (p.Ile2631=) rs778552693
NM_004415.4(DSP):c.7893C>T (p.Ile2631=) rs778552693
NM_004415.4(DSP):c.7894T>C (p.Ser2632Pro)
NM_004415.4(DSP):c.7895C>A (p.Ser2632Tyr)
NM_004415.4(DSP):c.78G>A (p.Leu26=)
NM_004415.4(DSP):c.78G>T (p.Leu26=) rs71559180
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.7918_7919dup (p.Ile2641fs) rs1759606062
NM_004415.4(DSP):c.7920C>T (p.Gly2640=)
NM_004415.4(DSP):c.7927G>A (p.Asp2643Asn)
NM_004415.4(DSP):c.7935C>T (p.Ile2645=)
NM_004415.4(DSP):c.7938G>A (p.Thr2646=)
NM_004415.4(DSP):c.7942C>G (p.Gln2648Glu) rs2113703697
NM_004415.4(DSP):c.7947G>A (p.Arg2649=)
NM_004415.4(DSP):c.7948C>A (p.Leu2650Ile)
NM_004415.4(DSP):c.7951C>T (p.Leu2651=)
NM_004415.4(DSP):c.7954G>A (p.Glu2652Lys)
NM_004415.4(DSP):c.795G>C (p.Arg265Ser)
NM_004415.4(DSP):c.7960C>T (p.Gln2654Ter)
NM_004415.4(DSP):c.7963G>T (p.Ala2655Ser)
NM_004415.4(DSP):c.7968C>T (p.Cys2656=) rs2113703768
NM_004415.4(DSP):c.7968_7972del (p.Cys2656fs)
NM_004415.4(DSP):c.796A>C (p.Met266Leu) rs1758827543
NM_004415.4(DSP):c.7971A>G (p.Thr2657=) rs2113703783
NM_004415.4(DSP):c.7986C>T (p.His2662=) rs753720770
NM_004415.4(DSP):c.7987C>G (p.Pro2663Ala)
NM_004415.4(DSP):c.7989A>G (p.Pro2663=)
NM_004415.4(DSP):c.7991C>A (p.Thr2664Asn) rs1759611499
NM_004415.4(DSP):c.7995G>C (p.Thr2665=)
NM_004415.4(DSP):c.7997G>A (p.Gly2666Asp) rs750085948
NM_004415.4(DSP):c.7997del (p.Gly2666fs)
NM_004415.4(DSP):c.79C>T (p.Arg27Cys)
NM_004415.4(DSP):c.8000A>G (p.Gln2667Arg)
NM_004415.4(DSP):c.8004G>A (p.Lys2668=) rs1581825294
NM_004415.4(DSP):c.8007G>A (p.Leu2669=) rs746561567
NM_004415.4(DSP):c.8014C>T (p.Gln2672Ter) rs1064793890
NM_004415.4(DSP):c.8014dup (p.Gln2672fs)
NM_004415.4(DSP):c.801T>A (p.Asp267Glu)
NM_004415.4(DSP):c.8021C>G (p.Ala2674Gly) rs778480531
NM_004415.4(DSP):c.8027C>T (p.Ser2676Phe)
NM_004415.4(DSP):c.802C>A (p.His268Asn)
NM_004415.4(DSP):c.8035G>A (p.Val2679Met)
NM_004415.4(DSP):c.8040dup (p.Asp2681Ter)
NM_004415.4(DSP):c.8041_8042del (p.Asp2681fs)
NM_004415.4(DSP):c.8052G>A (p.Met2684Ile) rs1408242511
NM_004415.4(DSP):c.8061G>A (p.Arg2687=)
NM_004415.4(DSP):c.8064G>A (p.Leu2688=) rs1581825424
NM_004415.4(DSP):c.8067G>C (p.Lys2689Asn)
NM_004415.4(DSP):c.8071G>C (p.Ala2691Pro) rs1006955897
NM_004415.4(DSP):c.8077_8080del (p.Lys2693fs) rs879254352
NM_004415.4(DSP):c.807G>A (p.Leu269=)
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.808C>T (p.Arg270Ter)
NM_004415.4(DSP):c.8093T>C (p.Phe2698Ser) rs1759618009
NM_004415.4(DSP):c.8095G>C (p.Glu2699Gln)
NM_004415.4(DSP):c.8097G>A (p.Glu2699=) rs1478062594
NM_004415.4(DSP):c.8101G>A (p.Val2701Met) rs1561704928
NM_004415.4(DSP):c.8106G>A (p.Lys2702=)
NM_004415.4(DSP):c.8107G>A (p.Gly2703Arg)
NM_004415.4(DSP):c.8111AGA[2] (p.Lys2706del) rs397516962
NM_004415.4(DSP):c.8111dup (p.Lys2705fs)
NM_004415.4(DSP):c.8115G>A (p.Lys2705=) rs1759619330
NM_004415.4(DSP):c.8120T>A (p.Met2707Lys)
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.8130A>G (p.Ala2710=) rs1440748149
NM_004415.4(DSP):c.8133G>A (p.Glu2711=) rs375348086
NM_004415.4(DSP):c.8138T>G (p.Val2713Gly) rs1759621076
NM_004415.4(DSP):c.8139G>A (p.Val2713=)
NM_004415.4(DSP):c.8139G>C (p.Val2713=) rs555992606
NM_004415.4(DSP):c.8140A>T (p.Lys2714Ter)
NM_004415.4(DSP):c.8143del (p.Glu2715fs)
NM_004415.4(DSP):c.8148A>G (p.Lys2716=)
NM_004415.4(DSP):c.8148dup (p.Trp2717fs)
NM_004415.4(DSP):c.8149T>C (p.Trp2717Arg) rs1554109176
NM_004415.4(DSP):c.8152C>G (p.Leu2718Val)
NM_004415.4(DSP):c.8156del (p.Pro2719fs) rs1554109181
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.8169C>G (p.Gly2723=) rs1259495339
NM_004415.4(DSP):c.8170C>T (p.Gln2724Ter) rs879254353
NM_004415.4(DSP):c.8171A>G (p.Gln2724Arg) rs1759623133
NM_004415.4(DSP):c.8173del (p.Arg2725fs) rs1759623444
NM_004415.4(DSP):c.8178C>T (p.Phe2726=) rs901698792
NM_004415.4(DSP):c.8179C>T (p.Leu2727=)
NM_004415.4(DSP):c.8182dup (p.Glu2728fs) rs1554109187
NM_004415.4(DSP):c.8187C>T (p.Phe2729=) rs369619485
NM_004415.4(DSP):c.8188C>G (p.Gln2730Glu)
NM_004415.4(DSP):c.8188del (p.Gln2730fs) rs886038929
NM_004415.4(DSP):c.818dup (p.Asn274fs) rs1758828554
NM_004415.4(DSP):c.8192_8199del (p.Tyr2731fs)
NM_004415.4(DSP):c.8193C>G (p.Tyr2731Ter) rs2113704410
NM_004415.4(DSP):c.8195T>G (p.Leu2732Arg)
NM_004415.4(DSP):c.8197A>C (p.Thr2733Pro)
NM_004415.4(DSP):c.8198C>T (p.Thr2733Met) rs1561705229
NM_004415.4(DSP):c.8199G>A (p.Thr2733=) rs145085696
NM_004415.4(DSP):c.8199G>T (p.Thr2733=)
NM_004415.4(DSP):c.81C>A (p.Arg27=) rs773559423
NM_004415.4(DSP):c.81C>G (p.Arg27=)
NM_004415.4(DSP):c.8201G>A (p.Gly2734Glu) rs1561705241
NM_004415.4(DSP):c.8203G>A (p.Gly2735Ser)
NM_004415.4(DSP):c.8207T>A (p.Leu2736His) rs1759625908
NM_004415.4(DSP):c.8211T>G (p.Val2737=) rs543240936
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.8232G>A (p.Arg2744=) rs780253169
NM_004415.4(DSP):c.8233A>C (p.Ile2745Leu)
NM_004415.4(DSP):c.8237G>C (p.Ser2746Thr)
NM_004415.4(DSP):c.8238C>T (p.Ser2746=) rs781351433
NM_004415.4(DSP):c.8241C>G (p.Thr2747=)
NM_004415.4(DSP):c.8241C>T (p.Thr2747=)
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.8253C>A (p.Ile2751=) rs1165200201
NM_004415.4(DSP):c.8254C>T (p.Arg2752Trp)
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.8262G>A (p.Gly2754=) rs187226788
NM_004415.4(DSP):c.8262G>T (p.Gly2754=) rs187226788
NM_004415.4(DSP):c.8271T>C (p.Asp2757=)
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.827_830del (p.Ile276fs) rs1758828907
NM_004415.4(DSP):c.8280C>T (p.Ala2760=) rs1203424345
NM_004415.4(DSP):c.8284C>T (p.Gln2762Ter) rs376703565
NM_004415.4(DSP):c.8288G>A (p.Arg2763Lys)
NM_004415.4(DSP):c.8291_8292insTGCT (p.Gln2765fs) rs756925801
NM_004415.4(DSP):c.8296G>A (p.Asp2766Asn) rs1759633378
NM_004415.4(DSP):c.8299A>G (p.Thr2767Ala) rs1304137526
NM_004415.4(DSP):c.829C>T (p.Gln277Ter)
NM_004415.4(DSP):c.82T>C (p.Tyr28His)
NM_004415.4(DSP):c.8300C>G (p.Thr2767Ser)
NM_004415.4(DSP):c.8300C>T (p.Thr2767Ile) rs34884895
NM_004415.4(DSP):c.8301C>T (p.Thr2767=)
NM_004415.4(DSP):c.8302A>G (p.Ser2768Gly)
NM_004415.4(DSP):c.8304C>G (p.Ser2768Arg)
NM_004415.4(DSP):c.8313C>T (p.Ala2771=)
NM_004415.4(DSP):c.8316A>C (p.Lys2772Asn)
NM_004415.4(DSP):c.8316A>G (p.Lys2772=) rs2113704844
NM_004415.4(DSP):c.8319C>G (p.Ile2773Met)
NM_004415.4(DSP):c.8319_8341del (p.Leu2774fs) rs2113704840
NM_004415.4(DSP):c.8320C>T (p.Leu2774=) rs397516964
NM_004415.4(DSP):c.8322G>A (p.Leu2774=) rs1455098095
NM_004415.4(DSP):c.8324C>T (p.Thr2775Ile)
NM_004415.4(DSP):c.8325C>G (p.Thr2775=) rs2113704869
NM_004415.4(DSP):c.8328C>T (p.Cys2776=)
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.8350T>C (p.Ser2784Pro) rs1240301188
NM_004415.4(DSP):c.8351C>T (p.Ser2784Phe)
NM_004415.4(DSP):c.8354A>G (p.Tyr2785Cys)
NM_004415.4(DSP):c.8357A>T (p.Lys2786Met) rs794728134
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.8374T>G (p.Ser2792Ala)
NM_004415.4(DSP):c.8382A>G (p.Val2794=) rs1025921677
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.8388T>C (p.Asp2796=) rs1478242707
NM_004415.4(DSP):c.8390del (p.Ile2797fs)
NM_004415.4(DSP):c.8391C>A (p.Ile2797=) rs372909009
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.8403C>G (p.Arg2801=)
NM_004415.4(DSP):c.8414C>G (p.Ala2805Gly)
NM_004415.4(DSP):c.8414C>T (p.Ala2805Val)
NM_004415.4(DSP):c.8416G>C (p.Ala2806Pro)
NM_004415.4(DSP):c.8417C>T (p.Ala2806Val)
NM_004415.4(DSP):c.8418C>A (p.Ala2806=) rs1581826536
NM_004415.4(DSP):c.8423del (p.Val2808fs)
NM_004415.4(DSP):c.8426C>T (p.Ser2809Leu)
NM_004415.4(DSP):c.8436C>T (p.Gly2812=)
NM_004415.4(DSP):c.8438T>C (p.Leu2813Ser)
NM_004415.4(DSP):c.843G>A (p.Arg281=) rs1427960878
NM_004415.4(DSP):c.8440C>A (p.Pro2814Thr) rs1303168294
NM_004415.4(DSP):c.8441C>T (p.Pro2814Leu) rs756310918
NM_004415.4(DSP):c.8442C>A (p.Pro2814=) rs1581826610
NM_004415.4(DSP):c.8442C>T (p.Pro2814=) rs1581826610
NM_004415.4(DSP):c.8442dup (p.Ser2815fs) rs1554109247
NM_004415.4(DSP):c.8446C>T (p.Pro2816Ser)
NM_004415.4(DSP):c.8449T>C (p.Tyr2817His)
NM_004415.4(DSP):c.8450A>G (p.Tyr2817Cys)
NM_004415.4(DSP):c.8450ACA[1] (p.Asn2818del)
NM_004415.4(DSP):c.8451C>T (p.Tyr2817=)
NM_004415.4(DSP):c.8455A>G (p.Met2819Val) rs138329459
NM_004415.4(DSP):c.8462_8463del (p.Ser2821fs) rs2113705206
NM_004415.4(DSP):c.8463G>A (p.Ser2821=)
NM_004415.4(DSP):c.8468C>T (p.Pro2823Leu) rs1404710139
NM_004415.4(DSP):c.8469_8487del (p.Gly2824fs) rs2113705210
NM_004415.4(DSP):c.8471_8483del (p.Gly2824fs) rs1759642975
NM_004415.4(DSP):c.8472_8483del (p.2827_2830SGSR[4]) rs397516967
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.8476C>G (p.Arg2826Gly) rs139969658
NM_004415.4(DSP):c.8478C>T (p.Arg2826=)
NM_004415.4(DSP):c.8480C>T (p.Ser2827Phe) rs746773800
NM_004415.4(DSP):c.8481C>G (p.Ser2827=)
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.8484C>T (p.Gly2828=) rs1467235605
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.8487_8498del (p.2827_2830SGSR[4]) rs727504704
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.8490C>A (p.Arg2830=) rs1221382084
NM_004415.4(DSP):c.8493G>A (p.Ser2831=) rs397516969
NM_004415.4(DSP):c.8493_8504del (p.2827SGSR[4]) rs748194022
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.8494G>A (p.Gly2832Arg)
NM_004415.4(DSP):c.8496A>C (p.Gly2832=) rs760011967
NM_004415.4(DSP):c.8496ATCTCGCTCCGG[1] (p.2827SGSR[4]) rs397516971
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.8499T>C (p.Ser2833=) rs1468666445
NM_004415.4(DSP):c.84C>A (p.Tyr28Ter)
NM_004415.4(DSP):c.8501G>A (p.Arg2834His) rs121912999
NM_004415.4(DSP):c.8505C>G (p.Ser2835=)
NM_004415.4(DSP):c.8506G>A (p.Gly2836Arg)
NM_004415.4(DSP):c.8512C>T (p.Arg2838Cys)
NM_004415.4(DSP):c.8513G>A (p.Arg2838His) rs930055191
NM_004415.4(DSP):c.8515_8517delinsAGT (p.Ser2839=) rs1554109285
NM_004415.4(DSP):c.8516C>G (p.Ser2839Cys) rs750438076
NM_004415.4(DSP):c.8516C>T (p.Ser2839Phe) rs750438076
NM_004415.4(DSP):c.8517C>G (p.Ser2839=)
NM_004415.4(DSP):c.8524C>G (p.Arg2842Gly)
NM_004415.4(DSP):c.8525G>A (p.Arg2842His)
NM_004415.4(DSP):c.8526C>T (p.Arg2842=)
NM_004415.4(DSP):c.8529_8540del (p.2827_2830SGSR[4]) rs794728151
NM_004415.4(DSP):c.852G>A (p.Met284Ile) rs794728110
NM_004415.4(DSP):c.852G>T (p.Met284Ile)
NM_004415.4(DSP):c.8531G>T (p.Gly2844Val) rs374137476
NM_004415.4(DSP):c.8536C>T (p.Arg2846Trp)
NM_004415.4(DSP):c.8544A>T (p.Gly2848=)
NM_004415.4(DSP):c.8552A>G (p.Asp2851Gly)
NM_004415.4(DSP):c.8553C>T (p.Asp2851=) rs1554109307
NM_004415.4(DSP):c.8556C>T (p.Ala2852=) rs1163538965
NM_004415.4(DSP):c.8559A>C (p.Thr2853=) rs1759653585
NM_004415.4(DSP):c.8559A>G (p.Thr2853=) rs1759653585
NM_004415.4(DSP):c.8560G>A (p.Gly2854Arg)
NM_004415.4(DSP):c.8573A>G (p.Tyr2858Cys) rs1759654706
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.8582C>T (p.Ser2861Phe) rs1269834512
NM_004415.4(DSP):c.8583C>T (p.Ser2861=)
NM_004415.4(DSP):c.8583del (p.Tyr2862fs) rs765683790
NM_004415.4(DSP):c.8586C>T (p.Tyr2862=)
NM_004415.4(DSP):c.8588C>T (p.Ser2863Leu)
NM_004415.4(DSP):c.8596AGT[1] (p.Ser2868del)
NM_004415.4(DSP):c.8598T>C (p.Ser2866=)
NM_004415.4(DSP):c.859A>C (p.Asn287His) rs1554106503
NM_004415.4(DSP):c.859A>G (p.Asn287Asp)
NM_004415.4(DSP):c.85G>A (p.Glu29Lys)
NM_004415.4(DSP):c.85G>T (p.Glu29Ter) rs1320349488
NM_004415.4(DSP):c.8601T>C (p.Ser2867=)
NM_004415.4(DSP):c.8602T>A (p.Ser2868Thr) rs1554109346
NM_004415.4(DSP):c.860A>C (p.Asn287Thr)
NM_004415.4(DSP):c.8615A>G (p.Ter2872Trp)
NM_004415.4(DSP):c.865T>C (p.Cys289Arg)
NM_004415.4(DSP):c.867C>A (p.Cys289Ter) rs397516973
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.877G>A (p.Glu293Lys) rs876657799
NM_004415.4(DSP):c.87G>A (p.Glu29=)
NM_004415.4(DSP):c.882G>A (p.Leu294=) rs2113669406
NM_004415.4(DSP):c.885G>A (p.Leu295=)
NM_004415.4(DSP):c.888C>A (p.Tyr296Ter) rs149701627
NM_004415.4(DSP):c.888C>G (p.Tyr296Ter) rs149701627
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.891C>T (p.Asp297=) rs2113669443
NM_004415.4(DSP):c.892T>G (p.Trp298Gly)
NM_004415.4(DSP):c.893G>A (p.Trp298Ter)
NM_004415.4(DSP):c.894G>A (p.Trp298Ter) rs2113669445
NM_004415.4(DSP):c.897C>A (p.Ser299Arg)
NM_004415.4(DSP):c.897C>G (p.Ser299Arg) rs121912992
NM_004415.4(DSP):c.8G>A (p.Cys3Tyr) rs760993985
NM_004415.4(DSP):c.901A>G (p.Lys301Glu)
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.919C>T (p.Gln307Ter) rs1238227166
NM_004415.4(DSP):c.922A>C (p.Lys308Gln) rs1060500617
NM_004415.4(DSP):c.924dup (p.Gln309fs) rs2113669536
NM_004415.4(DSP):c.925C>T (p.Gln309Ter) rs1581799453
NM_004415.4(DSP):c.928G>A (p.Glu310Lys)
NM_004415.4(DSP):c.928dup (p.Glu310fs) rs794728137
NM_004415.4(DSP):c.931G>C (p.Ala311Pro)
NM_004415.4(DSP):c.931del (p.Ala311fs)
NM_004415.4(DSP):c.935_937del (p.Phe312del) rs794728138
NM_004415.4(DSP):c.939+11C>G
NM_004415.4(DSP):c.939+11C>T
NM_004415.4(DSP):c.939+13C>A
NM_004415.4(DSP):c.939+13dup rs730880360
NM_004415.4(DSP):c.939+15C>T
NM_004415.4(DSP):c.939+18G>A
NM_004415.4(DSP):c.939+1G>T rs727504443
NM_004415.4(DSP):c.939+1del rs1758835134
NM_004415.4(DSP):c.939+20C>T
NM_004415.4(DSP):c.939+2T>C rs2113669594
NM_004415.4(DSP):c.939+2_939+3insCC rs2113669596
NM_004415.4(DSP):c.939+3_939+6dup
NM_004415.4(DSP):c.939+4A>C
NM_004415.4(DSP):c.939+8C>G
NM_004415.4(DSP):c.939+9A>G
NM_004415.4(DSP):c.93C>T (p.Thr31=)
NM_004415.4(DSP):c.940-11T>C
NM_004415.4(DSP):c.940-12C>T rs2113670873
NM_004415.4(DSP):c.940-2del rs2113670901
NM_004415.4(DSP):c.940-7T>G rs1368622056
NM_004415.4(DSP):c.942dup (p.Arg315fs) rs1758864039
NM_004415.4(DSP):c.944G>C (p.Arg315Pro)
NM_004415.4(DSP):c.944G>T (p.Arg315Leu) rs558825586
NM_004415.4(DSP):c.944_945delinsAA (p.Arg315Gln)
NM_004415.4(DSP):c.945C>T (p.Arg315=)
NM_004415.4(DSP):c.946A>T (p.Met316Leu)
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.955C>T (p.Leu319=) 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.96C>T (p.Ser32=) rs1440994214
NM_004415.4(DSP):c.971A>G (p.Lys324Arg)
NM_004415.4(DSP):c.972del (p.Glu325fs)
NM_004415.4(DSP):c.97G>A (p.Gly33Ser) rs1581777550
NM_004415.4(DSP):c.986T>C (p.Leu329Pro)
NM_004415.4(DSP):c.991C>T (p.Gln331Ter) rs121912991
NM_004415.4(DSP):c.992A>C (p.Gln331Pro) rs746517026
NM_004415.4(DSP):c.992A>G (p.Gln331Arg) rs746517026
NM_004415.4(DSP):c.997del (p.Ser333fs)
NM_004415.4(DSP):c.998G>C (p.Ser333Thr) rs749695729
NM_004415.4(DSP):c.99C>T (p.Gly33=) rs755898551

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