ClinVar Miner

List of variants in gene DSP reported by Ambry Genetics

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 1221
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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.5213G>A (p.Arg1738Gln) rs6929069 0.19612
NM_004415.4(DSP):c.1dup (p.Met1fs) rs17133512 0.17362
NM_004415.4(DSP):c.4535A>G (p.Tyr1512Cys) rs2076299 0.13777
NM_004415.4(DSP):c.126T>C (p.Tyr42=) rs36087964 0.06956
NM_004415.4(DSP):c.4578C>A (p.Asn1526Lys) rs28763966 0.04717
NM_004415.4(DSP):c.8175C>A (p.Arg2725=) rs11558731 0.04375
NM_004415.4(DSP):c.913A>T (p.Ile305Phe) rs17604693 0.02655
NM_004415.4(DSP):c.4773G>A (p.Arg1591=) rs28763968 0.01341
NM_004415.4(DSP):c.2815G>A (p.Gly939Ser) rs80325569 0.01244
NM_004415.4(DSP):c.3963G>A (p.Gln1321=) rs61731476 0.01161
NM_004415.4(DSP):c.3510G>A (p.Glu1170=) rs28763964 0.01023
NM_004415.4(DSP):c.6390T>C (p.Ala2130=) rs28763969 0.00940
NM_004415.4(DSP):c.4609C>T (p.Arg1537Cys) rs28763967 0.00925
NM_004415.4(DSP):c.5498A>T (p.Glu1833Val) rs78652302 0.00908
NM_004415.4(DSP):c.1481A>T (p.Tyr494Phe) rs28763961 0.00618
NM_004415.4(DSP):c.4455G>T (p.Arg1485Ser) rs113902911 0.00572
NM_004415.4(DSP):c.6208G>A (p.Asp2070Asn) rs41302885 0.00290
NM_004415.4(DSP):c.2596C>T (p.Arg866Cys) rs142429411 0.00214
NM_004415.4(DSP):c.4383G>A (p.Glu1461=) rs140029036 0.00197
NM_004415.4(DSP):c.4588G>T (p.Val1530Phe) rs141227126 0.00197
NM_004415.4(DSP):c.1488G>A (p.Thr496=) rs35820473 0.00195
NM_004415.4(DSP):c.1206G>A (p.Lys402=) rs150422458 0.00185
NM_004415.4(DSP):c.4489C>T (p.Arg1497Trp) rs148041814 0.00178
NM_004415.4(DSP):c.1920C>T (p.Ile640=) rs74806300 0.00156
NM_004415.4(DSP):c.6678T>A (p.Gly2226=) rs149070106 0.00139
NM_004415.4(DSP):c.3696C>A (p.Ser1232=) rs141120358 0.00132
NM_004415.4(DSP):c.4372C>G (p.Arg1458Gly) rs28763965 0.00131
NM_004415.4(DSP):c.2346C>T (p.Asp782=) rs139071827 0.00126
NM_004415.4(DSP):c.522T>C (p.Cys174=) rs144781697 0.00124
NM_004415.4(DSP):c.8455A>C (p.Met2819Leu) rs138329459 0.00103
NM_004415.4(DSP):c.88G>A (p.Val30Met) rs121912998 0.00094
NM_004415.4(DSP):c.5218G>A (p.Glu1740Lys) rs142885240 0.00091
NM_004415.4(DSP):c.7734C>T (p.Ser2578=) rs28763970 0.00087
NM_004415.4(DSP):c.8605A>G (p.Ile2869Val) rs28763971 0.00077
NM_004415.4(DSP):c.4065T>C (p.Tyr1355=) rs148478829 0.00073
NM_004415.4(DSP):c.782C>T (p.Ala261Val) rs139509870 0.00067
NM_004415.4(DSP):c.6881C>G (p.Ala2294Gly) rs147000526 0.00062
NM_004415.4(DSP):c.1778A>G (p.Asn593Ser) rs34239595 0.00055
NM_004415.4(DSP):c.8019C>T (p.Asp2673=) rs144275591 0.00047
NM_004415.4(DSP):c.8301C>G (p.Thr2767=) rs145362059 0.00046
NM_004415.4(DSP):c.2683T>C (p.Tyr895His) rs375891215 0.00043
NM_004415.4(DSP):c.3123C>T (p.Leu1041=) rs149929637 0.00042
NM_004415.4(DSP):c.2723G>A (p.Arg908His) rs142494121 0.00041
NM_004415.4(DSP):c.5167G>C (p.Glu1723Gln) rs142803672 0.00041
NM_004415.4(DSP):c.4500G>T (p.Leu1500=) rs372881903 0.00039
NM_004415.4(DSP):c.688G>A (p.Asp230Asn) rs147315869 0.00038
NM_004415.4(DSP):c.3923G>A (p.Arg1308Gln) rs184154918 0.00037
NM_004415.4(DSP):c.6319G>C (p.Val2107Leu) rs144263721 0.00036
NM_004415.4(DSP):c.8199G>C (p.Thr2733=) rs145085696 0.00036
NM_004415.4(DSP):c.2288A>G (p.Tyr763Cys) rs113967308 0.00034
NM_004415.4(DSP):c.5178C>A (p.Asn1726Lys) rs147415451 0.00033
NM_004415.4(DSP):c.531C>G (p.Gly177=) rs138865799 0.00032
NM_004415.4(DSP):c.273+5G>A rs200473206 0.00031
NM_004415.4(DSP):c.5991G>A (p.Gly1997=) rs538244495 0.00029
NM_004415.4(DSP):c.1154C>T (p.Ala385Val) rs146737031 0.00027
NM_004415.4(DSP):c.1696G>A (p.Ala566Thr) rs148147581 0.00026
NM_004415.4(DSP):c.7916G>A (p.Arg2639Gln) rs116888866 0.00026
NM_004415.4(DSP):c.3297G>C (p.Lys1099Asn) rs370550974 0.00025
NM_004415.4(DSP):c.7848G>A (p.Ser2616=) rs148798300 0.00025
NM_004415.4(DSP):c.6381C>T (p.Ala2127=) rs146315412 0.00024
NM_004415.4(DSP):c.2794-4dup rs397516924 0.00023
NM_004415.4(DSP):c.6207C>T (p.Val2069=) rs147398792 0.00022
NM_004415.4(DSP):c.2422C>T (p.Arg808Cys) rs150339369 0.00021
NM_004415.4(DSP):c.5035C>T (p.His1679Tyr) rs762561997 0.00021
NM_004415.4(DSP):c.8467C>G (p.Pro2823Ala) rs142717240 0.00020
NM_004415.4(DSP):c.1344G>A (p.Leu448=) rs138226280 0.00019
NM_004415.4(DSP):c.6010G>T (p.Val2004Phe) rs764692193 0.00019
NM_004415.4(DSP):c.6247C>T (p.Arg2083Cys) rs370093129 0.00019
NM_004415.4(DSP):c.6351T>C (p.Asp2117=) rs148743859 0.00019
NM_004415.4(DSP):c.8415C>T (p.Ala2805=) rs377148997 0.00019
NM_004415.4(DSP):c.961G>C (p.Val321Leu) rs143994626 0.00019
NM_004415.4(DSP):c.269A>G (p.Gln90Arg) rs188516326 0.00018
NM_004415.4(DSP):c.2121C>T (p.Asn707=) rs368590198 0.00017
NM_004415.4(DSP):c.3153C>T (p.Asn1051=) rs563387839 0.00017
NM_004415.4(DSP):c.2468C>T (p.Ser823Leu) rs141834182 0.00016
NM_004415.4(DSP):c.3706A>G (p.Arg1236Gly) rs377098318 0.00016
NM_004415.4(DSP):c.4775A>G (p.Lys1592Arg) rs200421954 0.00016
NM_004415.4(DSP):c.6479G>A (p.Arg2160Gln) rs146642551 0.00016
NM_004415.4(DSP):c.7599T>C (p.Ala2533=) rs374266378 0.00016
NM_004415.4(DSP):c.8482G>A (p.Gly2828Ser) rs369682599 0.00016
NM_004415.4(DSP):c.943C>T (p.Arg315Cys) rs200476515 0.00016
NM_004415.4(DSP):c.1534A>G (p.Ile512Val) rs202025438 0.00014
NM_004415.4(DSP):c.242G>A (p.Cys81Tyr) rs140965835 0.00014
NM_004415.4(DSP):c.3862A>C (p.Lys1288Gln) rs138907450 0.00014
NM_004415.4(DSP):c.521G>T (p.Cys174Phe) rs377507763 0.00014
NM_004415.4(DSP):c.6192T>C (p.Asn2064=) rs371230455 0.00014
NM_004415.4(DSP):c.251G>A (p.Arg84Gln) rs373736975 0.00013
NM_004415.4(DSP):c.2552T>A (p.Leu851Gln) rs111368396 0.00013
NM_004415.4(DSP):c.2774G>A (p.Arg925Gln) rs139799237 0.00013
NM_004415.4(DSP):c.3562T>C (p.Tyr1188His) rs141508330 0.00013
NM_004415.4(DSP):c.4386C>T (p.Ser1462=) rs149981214 0.00013
NM_004415.4(DSP):c.2037A>G (p.Ile679Met) rs151049942 0.00012
NM_004415.4(DSP):c.3600T>G (p.Asn1200Lys) rs202049575 0.00012
NM_004415.4(DSP):c.7125G>A (p.Gly2375=) rs141709096 0.00012
NM_004415.4(DSP):c.1483G>A (p.Val495Met) rs372014020 0.00011
NM_004415.4(DSP):c.237C>T (p.Ser79=) rs146521568 0.00011
NM_004415.4(DSP):c.3646A>G (p.Ile1216Val) rs199795359 0.00011
NM_004415.4(DSP):c.5744G>A (p.Arg1915His) rs146617683 0.00011
NM_004415.4(DSP):c.6360C>T (p.Thr2120=) rs374252141 0.00011
NM_004415.4(DSP):c.6566G>A (p.Arg2189Gln) rs766933370 0.00011
NM_004415.4(DSP):c.6753G>A (p.Lys2251=) rs750294829 0.00011
NM_004415.4(DSP):c.6799A>T (p.Thr2267Ser) rs181378432 0.00011
NM_004415.4(DSP):c.687C>T (p.Gly229=) rs112877191 0.00011
NM_004415.4(DSP):c.816G>A (p.Leu272=) rs376184294 0.00011
NM_004415.4(DSP):c.8173C>T (p.Arg2725Cys) rs141078292 0.00011
NM_004415.4(DSP):c.897C>T (p.Ser299=) rs121912992 0.00011
NM_004415.4(DSP):c.3146C>T (p.Ser1049Leu) rs751361395 0.00010
NM_004415.4(DSP):c.3616T>A (p.Leu1206Ile) rs151115778 0.00010
NM_004415.4(DSP):c.3922C>T (p.Arg1308Trp) rs144641271 0.00010
NM_004415.4(DSP):c.4780C>T (p.Leu1594=) rs149463707 0.00010
NM_004415.4(DSP):c.5304G>C (p.Gly1768=) rs530612211 0.00010
NM_004415.4(DSP):c.6307A>G (p.Lys2103Glu) rs149513743 0.00010
NM_004415.4(DSP):c.7278T>C (p.Tyr2426=) rs78843072 0.00010
NM_004415.4(DSP):c.8493G>C (p.Ser2831=) rs397516969 0.00010
NM_004415.4(DSP):c.987G>A (p.Leu329=) rs564435126 0.00010
NM_004415.4(DSP):c.2799G>C (p.Leu933Phe) rs372922674 0.00009
NM_004415.4(DSP):c.3096C>T (p.Thr1032=) rs139199849 0.00009
NM_004415.4(DSP):c.3981C>T (p.Ile1327=) rs397516934 0.00009
NM_004415.4(DSP):c.4175G>A (p.Arg1392Gln) rs201736018 0.00009
NM_004415.4(DSP):c.424C>T (p.Leu142Phe) rs373769397 0.00009
NM_004415.4(DSP):c.4750G>A (p.Ala1584Thr) rs191778417 0.00009
NM_004415.4(DSP):c.5513G>A (p.Arg1838His) rs377715841 0.00009
NM_004415.4(DSP):c.5523A>C (p.Ser1841=) rs730882116 0.00009
NM_004415.4(DSP):c.5617C>T (p.Arg1873Cys) rs144392839 0.00009
NM_004415.4(DSP):c.5796C>G (p.Arg1932=) rs148845182 0.00009
NM_004415.4(DSP):c.667G>A (p.Gly223Ser) rs200806163 0.00009
NM_004415.4(DSP):c.7077C>T (p.Ile2359=) rs966841386 0.00009
NM_004415.4(DSP):c.7852C>T (p.Pro2618Ser) rs376005629 0.00009
NM_004415.4(DSP):c.107G>C (p.Gly36Ala) rs778506459 0.00008
NM_004415.4(DSP):c.2125C>T (p.Leu709Phe) rs1431507005 0.00008
NM_004415.4(DSP):c.5316T>C (p.Asp1772=) rs376186141 0.00008
NM_004415.4(DSP):c.7552G>A (p.Val2518Ile) rs757394666 0.00008
NM_004415.4(DSP):c.888C>T (p.Tyr296=) rs149701627 0.00008
NM_004415.4(DSP):c.1839C>T (p.Thr613=) rs397516921 0.00007
NM_004415.4(DSP):c.2941A>G (p.Lys981Glu) rs747580402 0.00007
NM_004415.4(DSP):c.3102C>T (p.Ile1034=) rs569974617 0.00007
NM_004415.4(DSP):c.4749C>T (p.Thr1583=) rs745348231 0.00007
NM_004415.4(DSP):c.4901G>A (p.Arg1634Gln) rs144106775 0.00007
NM_004415.4(DSP):c.4943A>G (p.Gln1648Arg) rs202232360 0.00007
NM_004415.4(DSP):c.5363A>G (p.Gln1788Arg) rs139673146 0.00007
NM_004415.4(DSP):c.7563T>C (p.Asp2521=) rs984412074 0.00007
NM_004415.4(DSP):c.8172G>T (p.Gln2724His) rs372569211 0.00007
NM_004415.4(DSP):c.1155G>A (p.Ala385=) rs140488069 0.00006
NM_004415.4(DSP):c.1494G>A (p.Pro498=) rs764544754 0.00006
NM_004415.4(DSP):c.183G>A (p.Thr61=) rs150383703 0.00006
NM_004415.4(DSP):c.2122G>A (p.Glu708Lys) rs773113261 0.00006
NM_004415.4(DSP):c.3294C>G (p.Asp1098Glu) rs535762713 0.00006
NM_004415.4(DSP):c.3304G>A (p.Gly1102Ser) rs2491079 0.00006
NM_004415.4(DSP):c.3338G>A (p.Arg1113Gln) rs768455823 0.00006
NM_004415.4(DSP):c.3836C>T (p.Ala1279Val) rs753270443 0.00006
NM_004415.4(DSP):c.4022G>A (p.Arg1341His) rs112242645 0.00006
NM_004415.4(DSP):c.4117A>G (p.Thr1373Ala) rs200745877 0.00006
NM_004415.4(DSP):c.4320G>A (p.Val1440=) rs571103583 0.00006
NM_004415.4(DSP):c.4793T>A (p.Leu1598Gln) rs369449858 0.00006
NM_004415.4(DSP):c.4914C>T (p.Asp1638=) rs750113099 0.00006
NM_004415.4(DSP):c.5417C>G (p.Thr1806Ser) rs149773722 0.00006
NM_004415.4(DSP):c.5463C>T (p.Val1821=) rs961915749 0.00006
NM_004415.4(DSP):c.561C>T (p.Val187=) rs199585428 0.00006
NM_004415.4(DSP):c.6188G>A (p.Arg2063Gln) rs142927608 0.00006
NM_004415.4(DSP):c.6511A>G (p.Asn2171Asp) rs149827779 0.00006
NM_004415.4(DSP):c.6654C>T (p.Thr2218=) rs727503005 0.00006
NM_004415.4(DSP):c.729C>T (p.Arg243=) rs141028505 0.00006
NM_004415.4(DSP):c.7548G>A (p.Arg2516=) rs756527780 0.00006
NM_004415.4(DSP):c.783G>A (p.Ala261=) rs764596108 0.00006
NM_004415.4(DSP):c.8268A>C (p.Ile2756=) rs397516963 0.00006
NM_004415.4(DSP):c.915C>T (p.Ile305=) rs148395326 0.00006
NM_004415.4(DSP):c.1983T>C (p.Asn661=) rs770735715 0.00005
NM_004415.4(DSP):c.2247A>G (p.Leu749=) rs28763963 0.00005
NM_004415.4(DSP):c.2569G>A (p.Gly857Ser) rs548695484 0.00005
NM_004415.4(DSP):c.3507C>T (p.Tyr1169=) rs148894066 0.00005
NM_004415.4(DSP):c.3971A>T (p.Asn1324Ile) rs749820299 0.00005
NM_004415.4(DSP):c.4401A>G (p.Gln1467=) rs199818953 0.00005
NM_004415.4(DSP):c.5221G>A (p.Ala1741Thr) rs777773801 0.00005
NM_004415.4(DSP):c.5285G>A (p.Arg1762Gln) rs751849031 0.00005
NM_004415.4(DSP):c.5555G>A (p.Arg1852His) rs193922669 0.00005
NM_004415.4(DSP):c.6452G>A (p.Arg2151Gln) rs367759510 0.00005
NM_004415.4(DSP):c.6718C>G (p.Gln2240Glu) rs374262024 0.00005
NM_004415.4(DSP):c.8255G>A (p.Arg2752Gln) rs769706539 0.00005
NM_004415.4(DSP):c.8281G>A (p.Ala2761Thr) rs376751288 0.00005
NM_004415.4(DSP):c.8462C>T (p.Ser2821Leu) rs201826850 0.00005
NM_004415.4(DSP):c.916G>A (p.Ala306Thr) rs368193211 0.00005
NM_004415.4(DSP):c.1005A>G (p.Gln335=) rs200961741 0.00004
NM_004415.4(DSP):c.1222A>C (p.Asn408His) rs142129767 0.00004
NM_004415.4(DSP):c.137G>A (p.Gly46Asp) rs140403872 0.00004
NM_004415.4(DSP):c.1413A>G (p.Gln471=) rs376983987 0.00004
NM_004415.4(DSP):c.1443G>A (p.Glu481=) rs149126992 0.00004
NM_004415.4(DSP):c.1469G>A (p.Arg490His) rs747815091 0.00004
NM_004415.4(DSP):c.2308G>A (p.Val770Ile) rs1225927424 0.00004
NM_004415.4(DSP):c.2622C>G (p.Ile874Met) rs751067479 0.00004
NM_004415.4(DSP):c.2631-5C>T rs773772683 0.00004
NM_004415.4(DSP):c.264C>T (p.Ile88=) rs727502997 0.00004
NM_004415.4(DSP):c.2684A>G (p.Tyr895Cys) rs367752002 0.00004
NM_004415.4(DSP):c.2796C>T (p.Asn932=) rs368981849 0.00004
NM_004415.4(DSP):c.2866A>T (p.Asn956Tyr) rs397516928 0.00004
NM_004415.4(DSP):c.3904C>T (p.Arg1302Cys) rs775594375 0.00004
NM_004415.4(DSP):c.4199G>A (p.Arg1400Gln) rs748109826 0.00004
NM_004415.4(DSP):c.4490G>A (p.Arg1497Gln) rs727505037 0.00004
NM_004415.4(DSP):c.4696C>G (p.Leu1566Val) rs201785897 0.00004
NM_004415.4(DSP):c.4752G>A (p.Ala1584=) rs201213622 0.00004
NM_004415.4(DSP):c.4915G>A (p.Val1639Met) rs539587517 0.00004
NM_004415.4(DSP):c.4996C>T (p.Arg1666Trp) rs758312365 0.00004
NM_004415.4(DSP):c.4997G>A (p.Arg1666Gln) rs768577891 0.00004
NM_004415.4(DSP):c.5173C>T (p.Arg1725Trp) rs200336897 0.00004
NM_004415.4(DSP):c.5194G>A (p.Asp1732Asn) rs780224658 0.00004
NM_004415.4(DSP):c.5222C>T (p.Ala1741Val) rs749124581 0.00004
NM_004415.4(DSP):c.5554C>T (p.Arg1852Cys) rs550818559 0.00004
NM_004415.4(DSP):c.5668A>G (p.Arg1890Gly) rs762079110 0.00004
NM_004415.4(DSP):c.5795G>A (p.Arg1932His) rs770522444 0.00004
NM_004415.4(DSP):c.5839T>C (p.Tyr1947His) rs767259019 0.00004
NM_004415.4(DSP):c.596G>A (p.Arg199Lys) rs143648545 0.00004
NM_004415.4(DSP):c.598-4G>A rs747448946 0.00004
NM_004415.4(DSP):c.6240C>T (p.Phe2080=) rs757650857 0.00004
NM_004415.4(DSP):c.6442G>A (p.Ala2148Thr) rs144539278 0.00004
NM_004415.4(DSP):c.6595C>T (p.Leu2199Phe) rs549451471 0.00004
NM_004415.4(DSP):c.7035A>G (p.Gly2345=) rs780379988 0.00004
NM_004415.4(DSP):c.7128G>T (p.Gly2376=) rs756684406 0.00004
NM_004415.4(DSP):c.7332G>T (p.Leu2444=) rs1330371919 0.00004
NM_004415.4(DSP):c.7738G>T (p.Asp2580Tyr) rs371129517 0.00004
NM_004415.4(DSP):c.7970C>T (p.Thr2657Ile) rs1478775642 0.00004
NM_004415.4(DSP):c.8084T>A (p.Phe2695Tyr) rs764994940 0.00004
NM_004415.4(DSP):c.8117A>T (p.Lys2706Met) rs537588390 0.00004
NM_004415.4(DSP):c.8209G>C (p.Val2737Leu) rs149123428 0.00004
NM_004415.4(DSP):c.8229G>A (p.Gly2743=) rs1060503979 0.00004
NM_004415.4(DSP):c.8259G>A (p.Lys2753=) rs1005570207 0.00004
NM_004415.4(DSP):c.8500C>T (p.Arg2834Cys) rs753033333 0.00004
NM_004415.4(DSP):c.8590T>C (p.Phe2864Leu) rs764514210 0.00004
NM_004415.4(DSP):c.939C>T (p.Ser313=) rs766580649 0.00004
NM_004415.4(DSP):c.1103T>C (p.Ile368Thr) rs141163578 0.00003
NM_004415.4(DSP):c.1324T>G (p.Ser442Ala) rs755492444 0.00003
NM_004415.4(DSP):c.1512T>C (p.Leu504=) rs537526794 0.00003
NM_004415.4(DSP):c.1695C>T (p.Ile565=) rs752714010 0.00003
NM_004415.4(DSP):c.1743C>T (p.Ala581=) rs139095230 0.00003
NM_004415.4(DSP):c.201C>T (p.Asn67=) rs774432635 0.00003
NM_004415.4(DSP):c.2038G>A (p.Glu680Lys) rs1186943530 0.00003
NM_004415.4(DSP):c.2047G>A (p.Glu683Lys) rs775181391 0.00003
NM_004415.4(DSP):c.2052C>A (p.Gly684=) rs760191477 0.00003
NM_004415.4(DSP):c.2310A>C (p.Val770=) rs762909119 0.00003
NM_004415.4(DSP):c.2546A>G (p.Tyr849Cys) rs778636665 0.00003
NM_004415.4(DSP):c.2722C>T (p.Arg908Cys) rs376932045 0.00003
NM_004415.4(DSP):c.3153C>A (p.Asn1051Lys) rs563387839 0.00003
NM_004415.4(DSP):c.3231G>A (p.Ala1077=) rs368214030 0.00003
NM_004415.4(DSP):c.3275C>T (p.Ser1092Leu) rs755481878 0.00003
NM_004415.4(DSP):c.344A>G (p.Asn115Ser) rs28763958 0.00003
NM_004415.4(DSP):c.3551G>A (p.Arg1184Gln) rs147909031 0.00003
NM_004415.4(DSP):c.363C>T (p.Leu121=) rs748204541 0.00003
NM_004415.4(DSP):c.3650C>T (p.Thr1217Met) rs535202724 0.00003
NM_004415.4(DSP):c.3760G>A (p.Val1254Ile) rs778448699 0.00003
NM_004415.4(DSP):c.4005G>A (p.Gln1335=) rs775720924 0.00003
NM_004415.4(DSP):c.4041A>G (p.Glu1347=) rs200671552 0.00003
NM_004415.4(DSP):c.4105G>A (p.Glu1369Lys) rs141805096 0.00003
NM_004415.4(DSP):c.4373G>A (p.Arg1458Gln) rs370063434 0.00003
NM_004415.4(DSP):c.4377A>G (p.Thr1459=) rs771910118 0.00003
NM_004415.4(DSP):c.4387G>A (p.Val1463Ile) rs948230523 0.00003
NM_004415.4(DSP):c.4540C>T (p.Leu1514=) rs754783192 0.00003
NM_004415.4(DSP):c.4573A>G (p.Ile1525Val) rs145796901 0.00003
NM_004415.4(DSP):c.4741A>G (p.Lys1581Glu) rs186842903 0.00003
NM_004415.4(DSP):c.484C>T (p.Arg162Cys) rs760711308 0.00003
NM_004415.4(DSP):c.5066T>C (p.Ile1689Thr) rs869025394 0.00003
NM_004415.4(DSP):c.5154G>A (p.Leu1718=) rs376620183 0.00003
NM_004415.4(DSP):c.5223G>A (p.Ala1741=) rs201984474 0.00003
NM_004415.4(DSP):c.55C>A (p.Arg19Ser) rs777340009 0.00003
NM_004415.4(DSP):c.578G>T (p.Gly193Val) rs750350474 0.00003
NM_004415.4(DSP):c.5827A>G (p.Arg1943Gly) rs140663822 0.00003
NM_004415.4(DSP):c.6062C>G (p.Ala2021Gly) rs760673242 0.00003
NM_004415.4(DSP):c.6187C>G (p.Arg2063Gly) rs374090050 0.00003
NM_004415.4(DSP):c.6248G>A (p.Arg2083His) rs574637009 0.00003
NM_004415.4(DSP):c.6416A>G (p.Asn2139Ser) rs765687440 0.00003
NM_004415.4(DSP):c.6496C>A (p.Arg2166=) rs141026028 0.00003
NM_004415.4(DSP):c.665G>A (p.Arg222Gln) rs377749481 0.00003
NM_004415.4(DSP):c.7014G>C (p.Gly2338=) rs1054965369 0.00003
NM_004415.4(DSP):c.7123G>A (p.Gly2375Arg) rs376923069 0.00003
NM_004415.4(DSP):c.7569G>A (p.Lys2523=) rs1230846776 0.00003
NM_004415.4(DSP):c.7653C>T (p.Ser2551=) rs746983874 0.00003
NM_004415.4(DSP):c.8401C>G (p.Arg2801Gly) rs760215987 0.00003
NM_004415.4(DSP):c.997A>G (p.Ser333Gly) rs773685575 0.00003
NM_004415.4(DSP):c.1040T>C (p.Ile347Thr) rs757208743 0.00002
NM_004415.4(DSP):c.1191C>T (p.Asp397=) rs1046392713 0.00002
NM_004415.4(DSP):c.1215C>T (p.Cys405=) rs377500825 0.00002
NM_004415.4(DSP):c.130C>T (p.Arg44Trp) rs1255744065 0.00002
NM_004415.4(DSP):c.1419+5G>C rs1004508873 0.00002
NM_004415.4(DSP):c.1522G>A (p.Val508Met) rs751537483 0.00002
NM_004415.4(DSP):c.1677G>A (p.Lys559=) rs143356115 0.00002
NM_004415.4(DSP):c.1732A>C (p.Lys578Gln) rs761478865 0.00002
NM_004415.4(DSP):c.1816C>T (p.Arg606Trp) rs372467697 0.00002
NM_004415.4(DSP):c.1903+4G>A rs757726608 0.00002
NM_004415.4(DSP):c.2000G>C (p.Trp667Ser) rs760214732 0.00002
NM_004415.4(DSP):c.2046C>T (p.Cys682=) rs771674559 0.00002
NM_004415.4(DSP):c.2234A>G (p.Glu745Gly) rs969462343 0.00002
NM_004415.4(DSP):c.2275G>A (p.Val759Ile) rs745544854 0.00002
NM_004415.4(DSP):c.2329A>G (p.Ile777Val) rs755860619 0.00002
NM_004415.4(DSP):c.2364A>G (p.Glu788=) rs1397865751 0.00002
NM_004415.4(DSP):c.2443A>G (p.Lys815Glu) rs774638728 0.00002
NM_004415.4(DSP):c.2479A>T (p.Thr827Ser) rs1009521297 0.00002
NM_004415.4(DSP):c.2568C>T (p.Phe856=) rs746036365 0.00002
NM_004415.4(DSP):c.2674C>T (p.Arg892Cys) rs750800025 0.00002
NM_004415.4(DSP):c.2719C>T (p.Arg907Cys) rs749051278 0.00002
NM_004415.4(DSP):c.2771T>C (p.Met924Thr) rs752816142 0.00002
NM_004415.4(DSP):c.2861G>A (p.Cys954Tyr) rs779878192 0.00002
NM_004415.4(DSP):c.3147G>A (p.Ser1049=) rs756341143 0.00002
NM_004415.4(DSP):c.3282G>A (p.Lys1094=) rs2491080 0.00002
NM_004415.4(DSP):c.3303C>T (p.Tyr1101=) rs372440854 0.00002
NM_004415.4(DSP):c.3388G>A (p.Asp1130Asn) rs765769174 0.00002
NM_004415.4(DSP):c.3661A>G (p.Ile1221Val) rs794728120 0.00002
NM_004415.4(DSP):c.3774C>A (p.Asp1258Glu) rs748733750 0.00002
NM_004415.4(DSP):c.3800G>A (p.Arg1267Gln) rs759698959 0.00002
NM_004415.4(DSP):c.3835G>A (p.Ala1279Thr) rs763915365 0.00002
NM_004415.4(DSP):c.384G>A (p.Met128Ile) rs930440897 0.00002
NM_004415.4(DSP):c.3877A>G (p.Ile1293Val) rs376555665 0.00002
NM_004415.4(DSP):c.3912G>C (p.Glu1304Asp) rs764189408 0.00002
NM_004415.4(DSP):c.3954G>A (p.Lys1318=) rs866656949 0.00002
NM_004415.4(DSP):c.4104C>A (p.Thr1368=) rs1464715776 0.00002
NM_004415.4(DSP):c.4221A>G (p.Glu1407=) rs144427450 0.00002
NM_004415.4(DSP):c.4233G>C (p.Arg1411Ser) rs771721410 0.00002
NM_004415.4(DSP):c.4275G>T (p.Arg1425Ser) rs763489227 0.00002
NM_004415.4(DSP):c.4466T>G (p.Leu1489Arg) rs746782582 0.00002
NM_004415.4(DSP):c.4471G>A (p.Asp1491Asn) rs768402359 0.00002
NM_004415.4(DSP):c.4514C>T (p.Ala1505Val) rs375919492 0.00002
NM_004415.4(DSP):c.4565C>T (p.Thr1522Met) rs375150075 0.00002
NM_004415.4(DSP):c.4610G>A (p.Arg1537His) rs762135558 0.00002
NM_004415.4(DSP):c.4657G>A (p.Asp1553Asn) rs730880084 0.00002
NM_004415.4(DSP):c.4670C>T (p.Thr1557Met) rs747582734 0.00002
NM_004415.4(DSP):c.467T>A (p.Ile156Asn) rs767692014 0.00002
NM_004415.4(DSP):c.4767C>T (p.Cys1589=) rs763203149 0.00002
NM_004415.4(DSP):c.4808G>A (p.Arg1603Lys) rs869025393 0.00002
NM_004415.4(DSP):c.4867T>C (p.Ser1623Pro) rs749679496 0.00002
NM_004415.4(DSP):c.4886G>T (p.Ser1629Ile) rs200243976 0.00002
NM_004415.4(DSP):c.4991T>G (p.Leu1664Arg) rs746139953 0.00002
NM_004415.4(DSP):c.517A>T (p.Thr173Ser) rs1372912970 0.00002
NM_004415.4(DSP):c.5193C>T (p.Tyr1731=) rs201663619 0.00002
NM_004415.4(DSP):c.5383T>A (p.Ser1795Thr) rs764279057 0.00002
NM_004415.4(DSP):c.5913G>T (p.Leu1971=) rs373416071 0.00002
NM_004415.4(DSP):c.5932A>G (p.Met1978Val) rs770077556 0.00002
NM_004415.4(DSP):c.6054C>T (p.Ile2018=) rs369700204 0.00002
NM_004415.4(DSP):c.6345G>T (p.Leu2115Phe) rs766950975 0.00002
NM_004415.4(DSP):c.6397G>A (p.Gly2133Ser) rs372393122 0.00002
NM_004415.4(DSP):c.6476A>T (p.Tyr2159Phe) rs1581822548 0.00002
NM_004415.4(DSP):c.6542T>C (p.Val2181Ala) rs730880088 0.00002
NM_004415.4(DSP):c.6597C>T (p.Leu2199=) rs567782337 0.00002
NM_004415.4(DSP):c.6655G>A (p.Val2219Ile) rs397516953 0.00002
NM_004415.4(DSP):c.668G>A (p.Gly223Asp) rs199509943 0.00002
NM_004415.4(DSP):c.6762C>T (p.Leu2254=) rs138683913 0.00002
NM_004415.4(DSP):c.7116C>T (p.Ile2372=) rs185213858 0.00002
NM_004415.4(DSP):c.7117G>A (p.Ala2373Thr) rs373965771 0.00002
NM_004415.4(DSP):c.7184G>A (p.Gly2395Asp) rs777930834 0.00002
NM_004415.4(DSP):c.7200A>C (p.Glu2400Asp) rs1209240894 0.00002
NM_004415.4(DSP):c.7310A>G (p.Glu2437Gly) rs794728132 0.00002
NM_004415.4(DSP):c.740C>T (p.Ala247Val) rs544360130 0.00002
NM_004415.4(DSP):c.7575C>T (p.Gly2525=) rs780156504 0.00002
NM_004415.4(DSP):c.7622G>A (p.Arg2541Lys) rs142078450 0.00002
NM_004415.4(DSP):c.7836C>T (p.Thr2612=) rs762381028 0.00002
NM_004415.4(DSP):c.7883T>C (p.Leu2628Pro) rs147484870 0.00002
NM_004415.4(DSP):c.7924G>A (p.Val2642Ile) rs869025397 0.00002
NM_004415.4(DSP):c.797T>C (p.Met266Thr) rs370890663 0.00002
NM_004415.4(DSP):c.8042A>C (p.Asp2681Ala) rs746166372 0.00002
NM_004415.4(DSP):c.8109A>G (p.Gly2703=) rs78736738 0.00002
NM_004415.4(DSP):c.8233A>G (p.Ile2745Val) rs747284663 0.00002
NM_004415.4(DSP):c.8256G>A (p.Arg2752=) rs1313648350 0.00002
NM_004415.4(DSP):c.8374T>A (p.Ser2792Thr) rs727504570 0.00002
NM_004415.4(DSP):c.8394T>A (p.Thr2798=) rs775346694 0.00002
NM_004415.4(DSP):c.8402G>A (p.Arg2801His) rs763712887 0.00002
NM_004415.4(DSP):c.8484C>G (p.Gly2828=) rs1467235605 0.00002
NM_004415.4(DSP):c.1012C>T (p.Leu338Phe) rs774852168 0.00001
NM_004415.4(DSP):c.1016A>G (p.Asn339Ser) rs746245682 0.00001
NM_004415.4(DSP):c.106G>A (p.Gly36Ser) rs1395509692 0.00001
NM_004415.4(DSP):c.108C>T (p.Gly36=) rs755510597 0.00001
NM_004415.4(DSP):c.1102A>T (p.Ile368Phe) rs794728112 0.00001
NM_004415.4(DSP):c.1136T>C (p.Phe379Ser) rs1064795084 0.00001
NM_004415.4(DSP):c.117G>T (p.Arg39Ser) rs748578019 0.00001
NM_004415.4(DSP):c.1274G>A (p.Arg425Gln) rs397516916 0.00001
NM_004415.4(DSP):c.1323G>C (p.Lys441Asn) rs1037212969 0.00001
NM_004415.4(DSP):c.136G>A (p.Gly46Ser) rs371517189 0.00001
NM_004415.4(DSP):c.1383T>C (p.Ile461=) rs1758933736 0.00001
NM_004415.4(DSP):c.1410A>G (p.Lys470=) rs1554106858 0.00001
NM_004415.4(DSP):c.1468C>T (p.Arg490Cys) rs781084693 0.00001
NM_004415.4(DSP):c.146C>G (p.Thr49Ser) rs151153655 0.00001
NM_004415.4(DSP):c.1482C>T (p.Tyr494=) rs772925425 0.00001
NM_004415.4(DSP):c.1502T>C (p.Val501Ala) rs544017143 0.00001
NM_004415.4(DSP):c.153G>A (p.Gln51=) rs1450725914 0.00001
NM_004415.4(DSP):c.1545G>A (p.Pro515=) rs747953037 0.00001
NM_004415.4(DSP):c.1564C>G (p.Leu522Val) rs1230995902 0.00001
NM_004415.4(DSP):c.1568C>T (p.Ser523Phe) rs1276338018 0.00001
NM_004415.4(DSP):c.1582C>G (p.Gln528Glu) rs1267435790 0.00001
NM_004415.4(DSP):c.1671A>G (p.Ile557Met) rs766505506 0.00001
NM_004415.4(DSP):c.171-4T>C rs1554105598 0.00001
NM_004415.4(DSP):c.1715G>A (p.Arg572Gln) rs370531666 0.00001
NM_004415.4(DSP):c.1725T>C (p.Asp575=) rs756392585 0.00001
NM_004415.4(DSP):c.1730T>C (p.Met577Thr) rs141956992 0.00001
NM_004415.4(DSP):c.1812C>T (p.Asp604=) rs1428325875 0.00001
NM_004415.4(DSP):c.182C>T (p.Thr61Met) rs200250096 0.00001
NM_004415.4(DSP):c.1860G>A (p.Gln620=) rs762658467 0.00001
NM_004415.4(DSP):c.1864C>T (p.Leu622=) rs200790278 0.00001
NM_004415.4(DSP):c.1901C>G (p.Thr634Arg) rs139964486 0.00001
NM_004415.4(DSP):c.1973A>G (p.Asn658Ser) rs749183448 0.00001
NM_004415.4(DSP):c.197A>T (p.Gln66Leu) rs794728152 0.00001
NM_004415.4(DSP):c.2030G>A (p.Arg677Lys) rs749238502 0.00001
NM_004415.4(DSP):c.2081C>T (p.Ala694Val) rs543446763 0.00001
NM_004415.4(DSP):c.2192C>A (p.Ala731Asp) rs1280322841 0.00001
NM_004415.4(DSP):c.2194A>G (p.Asn732Asp) rs746785505 0.00001
NM_004415.4(DSP):c.2246T>C (p.Leu749Pro) rs935504136 0.00001
NM_004415.4(DSP):c.2260G>A (p.Glu754Lys) rs730880080 0.00001
NM_004415.4(DSP):c.2280A>C (p.Thr760=) rs1375561193 0.00001
NM_004415.4(DSP):c.2316A>T (p.Ala772=) rs754896726 0.00001
NM_004415.4(DSP):c.2377G>A (p.Glu793Lys) rs755067397 0.00001
NM_004415.4(DSP):c.2415A>C (p.Glu805Asp) rs1554107530 0.00001
NM_004415.4(DSP):c.2469G>A (p.Ser823=) rs368945617 0.00001
NM_004415.4(DSP):c.2472G>A (p.Leu824=) rs763798166 0.00001
NM_004415.4(DSP):c.249G>A (p.Met83Ile) rs1426930663 0.00001
NM_004415.4(DSP):c.2550_2552dup (p.Leu851dup) rs730880373 0.00001
NM_004415.4(DSP):c.2597G>A (p.Arg866His) rs764965132 0.00001
NM_004415.4(DSP):c.2609T>C (p.Ile870Thr) rs534413559 0.00001
NM_004415.4(DSP):c.2617C>G (p.Gln873Glu) rs794728118 0.00001
NM_004415.4(DSP):c.2644G>A (p.Glu882Lys) rs730880081 0.00001
NM_004415.4(DSP):c.2689G>C (p.Ala897Pro) rs1008407158 0.00001
NM_004415.4(DSP):c.268C>T (p.Gln90Ter) rs886039343 0.00001
NM_004415.4(DSP):c.26C>A (p.Pro9Gln) rs1303669220 0.00001
NM_004415.4(DSP):c.2728G>A (p.Asp910Asn) rs775080138 0.00001
NM_004415.4(DSP):c.2822G>A (p.Arg941Gln) rs759869347 0.00001
NM_004415.4(DSP):c.2850T>G (p.Ile950Met) rs727502999 0.00001
NM_004415.4(DSP):c.2858T>C (p.Leu953Pro) rs745641212 0.00001
NM_004415.4(DSP):c.2924T>C (p.Leu975Pro) rs1473895931 0.00001
NM_004415.4(DSP):c.2933T>A (p.Ile978Lys) rs1060500615 0.00001
NM_004415.4(DSP):c.2959T>A (p.Ser987Thr) rs397516929 0.00001
NM_004415.4(DSP):c.2966C>T (p.Ser989Phe) rs746346559 0.00001
NM_004415.4(DSP):c.2985G>A (p.Glu995=) rs768858918 0.00001
NM_004415.4(DSP):c.2995G>A (p.Val999Ile) rs1261418744 0.00001
NM_004415.4(DSP):c.3004C>T (p.Arg1002Trp) rs772551736 0.00001
NM_004415.4(DSP):c.3025A>G (p.Arg1009Gly) rs1413346143 0.00001
NM_004415.4(DSP):c.3059T>C (p.Met1020Thr) rs773331618 0.00001
NM_004415.4(DSP):c.3084G>A (p.Lys1028=) rs964949139 0.00001
NM_004415.4(DSP):c.3141C>T (p.Ala1047=) rs1421186832 0.00001
NM_004415.4(DSP):c.314G>A (p.Arg105Gln) rs762238621 0.00001
NM_004415.4(DSP):c.3277G>A (p.Ala1093Thr) rs1185986064 0.00001
NM_004415.4(DSP):c.327G>A (p.Glu109=) rs750816128 0.00001
NM_004415.4(DSP):c.3323A>G (p.Asn1108Ser) rs771948271 0.00001
NM_004415.4(DSP):c.3343A>G (p.Thr1115Ala) rs761524542 0.00001
NM_004415.4(DSP):c.3396T>C (p.Phe1132=) rs41302881 0.00001
NM_004415.4(DSP):c.340G>A (p.Ala114Thr) rs751745906 0.00001
NM_004415.4(DSP):c.3471A>G (p.Lys1157=) rs371743739 0.00001
NM_004415.4(DSP):c.3540A>G (p.Glu1180=) rs555514197 0.00001
NM_004415.4(DSP):c.3546C>T (p.Gly1182=) rs1355395147 0.00001
NM_004415.4(DSP):c.3550C>T (p.Arg1184Trp) rs761331634 0.00001
NM_004415.4(DSP):c.3605A>T (p.Glu1202Val) rs374266534 0.00001
NM_004415.4(DSP):c.3644A>G (p.Asn1215Ser) rs777375223 0.00001
NM_004415.4(DSP):c.364G>A (p.Asp122Asn) rs756013600 0.00001
NM_004415.4(DSP):c.3740G>A (p.Arg1247Gln) rs867067755 0.00001
NM_004415.4(DSP):c.3742G>A (p.Asp1248Asn) rs989348634 0.00001
NM_004415.4(DSP):c.3757A>C (p.Ile1253Leu) rs924651718 0.00001
NM_004415.4(DSP):c.3805C>T (p.Arg1269Ter) rs767643821 0.00001
NM_004415.4(DSP):c.3820G>A (p.Ala1274Thr) rs1285435504 0.00001
NM_004415.4(DSP):c.385C>T (p.Arg129Trp) rs777763456 0.00001
NM_004415.4(DSP):c.3864G>A (p.Lys1288=) rs768166626 0.00001
NM_004415.4(DSP):c.3865C>T (p.Gln1289Ter) rs778178956 0.00001
NM_004415.4(DSP):c.3905G>A (p.Arg1302His) rs760691999 0.00001
NM_004415.4(DSP):c.3919G>A (p.Ala1307Thr) rs367579811 0.00001
NM_004415.4(DSP):c.3968A>G (p.Lys1323Arg) rs971198843 0.00001
NM_004415.4(DSP):c.3973A>C (p.Lys1325Gln) rs41302883 0.00001
NM_004415.4(DSP):c.4021C>T (p.Arg1341Cys) rs547568275 0.00001
NM_004415.4(DSP):c.4061A>G (p.Asn1354Ser) rs746333083 0.00001
NM_004415.4(DSP):c.4103C>T (p.Thr1368Ile) rs530481219 0.00001
NM_004415.4(DSP):c.4173C>T (p.Tyr1391=) rs75537269 0.00001
NM_004415.4(DSP):c.4274G>A (p.Arg1425Lys) rs577560157 0.00001
NM_004415.4(DSP):c.4305_4309del (p.Thr1436fs) rs1554108287 0.00001
NM_004415.4(DSP):c.4312T>C (p.Ser1438Pro) rs1561698695 0.00001
NM_004415.4(DSP):c.431A>C (p.Gln144Pro) rs768178768 0.00001
NM_004415.4(DSP):c.4405C>T (p.Leu1469Phe) rs752121953 0.00001
NM_004415.4(DSP):c.4433A>G (p.Asp1478Gly) rs767339003 0.00001
NM_004415.4(DSP):c.4513G>A (p.Ala1505Thr) rs1488770025 0.00001
NM_004415.4(DSP):c.4518del (p.Arg1506fs) rs1289037294 0.00001
NM_004415.4(DSP):c.4526G>A (p.Arg1509Lys) rs577061462 0.00001
NM_004415.4(DSP):c.4531C>T (p.Gln1511Ter) rs397516940 0.00001
NM_004415.4(DSP):c.4563G>A (p.Ala1521=) rs774258993 0.00001
NM_004415.4(DSP):c.4566G>A (p.Thr1522=) rs1159243386 0.00001
NM_004415.4(DSP):c.4620C>T (p.Ile1540=) rs1385558717 0.00001
NM_004415.4(DSP):c.4666A>G (p.Ile1556Val) rs530647574 0.00001
NM_004415.4(DSP):c.4671G>A (p.Thr1557=) rs367767551 0.00001
NM_004415.4(DSP):c.4735C>T (p.Arg1579Trp) rs755868373 0.00001
NM_004415.4(DSP):c.4748C>G (p.Thr1583Ser) rs778603023 0.00001
NM_004415.4(DSP):c.4754C>T (p.Ser1585Leu) rs773622004 0.00001
NM_004415.4(DSP):c.4836C>T (p.Ile1612=) rs886039056 0.00001
NM_004415.4(DSP):c.4961T>C (p.Leu1654Pro) rs749730642 0.00001
NM_004415.4(DSP):c.4983C>T (p.Val1661=) rs755233649 0.00001
NM_004415.4(DSP):c.498C>T (p.Ser166=) rs372869942 0.00001
NM_004415.4(DSP):c.5062G>A (p.Ala1688Thr) rs757753880 0.00001
NM_004415.4(DSP):c.5091T>C (p.Asn1697=) rs780353871 0.00001
NM_004415.4(DSP):c.50T>G (p.Met17Arg) rs559248100 0.00001
NM_004415.4(DSP):c.5120A>T (p.Gln1707Leu) rs768870428 0.00001
NM_004415.4(DSP):c.5151C>T (p.His1717=) rs762841263 0.00001
NM_004415.4(DSP):c.5153T>C (p.Leu1718Ser) rs1278859783 0.00001
NM_004415.4(DSP):c.5217C>T (p.Ser1739=) rs748263306 0.00001
NM_004415.4(DSP):c.5261G>A (p.Ser1754Asn) rs763526083 0.00001
NM_004415.4(DSP):c.5283C>T (p.Asn1761=) rs763355815 0.00001
NM_004415.4(DSP):c.5313T>C (p.Asn1771=) rs757107485 0.00001
NM_004415.4(DSP):c.5396A>G (p.Gln1799Arg) rs987386495 0.00001
NM_004415.4(DSP):c.5550A>G (p.Lys1850=) rs1759482564 0.00001
NM_004415.4(DSP):c.5572C>G (p.Gln1858Glu) rs1474132784 0.00001
NM_004415.4(DSP):c.5593A>T (p.Asn1865Tyr) rs562015789 0.00001
NM_004415.4(DSP):c.5611T>G (p.Tyr1871Asp) rs374844169 0.00001
NM_004415.4(DSP):c.5618G>A (p.Arg1873His) rs776088292 0.00001
NM_004415.4(DSP):c.5631T>C (p.Ala1877=) rs1231651139 0.00001
NM_004415.4(DSP):c.5647T>C (p.Ser1883Pro) rs1056652234 0.00001
NM_004415.4(DSP):c.5649G>A (p.Ser1883=) rs760974941 0.00001
NM_004415.4(DSP):c.5656G>C (p.Glu1886Gln) rs776728790 0.00001
NM_004415.4(DSP):c.5779C>G (p.Gln1927Glu) rs794728104 0.00001
NM_004415.4(DSP):c.5794C>T (p.Arg1932Cys) rs748825632 0.00001
NM_004415.4(DSP):c.582G>T (p.Trp194Cys) rs1345570966 0.00001
NM_004415.4(DSP):c.5834G>A (p.Arg1945His) rs759516161 0.00001
NM_004415.4(DSP):c.5880C>T (p.Thr1960=) rs375883982 0.00001
NM_004415.4(DSP):c.5881G>A (p.Val1961Ile) rs368869076 0.00001
NM_004415.4(DSP):c.5912T>C (p.Leu1971Pro) rs397516950 0.00001
NM_004415.4(DSP):c.5958C>T (p.Ile1986=) rs577625038 0.00001
NM_004415.4(DSP):c.5959G>A (p.Asp1987Asn) rs759443302 0.00001
NM_004415.4(DSP):c.598-5C>T rs765653540 0.00001
NM_004415.4(DSP):c.5984T>C (p.Leu1995Ser) rs794728128 0.00001
NM_004415.4(DSP):c.599C>T (p.Ala200Val) rs1337095425 0.00001
NM_004415.4(DSP):c.6014C>T (p.Ala2005Val) rs749925817 0.00001
NM_004415.4(DSP):c.6038G>A (p.Arg2013Gln) rs557263443 0.00001
NM_004415.4(DSP):c.6112A>C (p.Lys2038Gln) rs185846631 0.00001
NM_004415.4(DSP):c.6141G>C (p.Met2047Ile) rs374226658 0.00001
NM_004415.4(DSP):c.61G>A (p.Glu21Lys) rs747956457 0.00001
NM_004415.4(DSP):c.6233T>C (p.Ile2078Thr) rs377035113 0.00001
NM_004415.4(DSP):c.6332T>C (p.Ile2111Thr) rs370865499 0.00001
NM_004415.4(DSP):c.6346A>G (p.Ile2116Val) rs777184414 0.00001
NM_004415.4(DSP):c.6367C>T (p.Arg2123Cys) rs372242085 0.00001
NM_004415.4(DSP):c.6415A>G (p.Asn2139Asp) rs762434061 0.00001
NM_004415.4(DSP):c.6455G>T (p.Gly2152Val) rs1040120840 0.00001
NM_004415.4(DSP):c.6549C>T (p.Tyr2183=) rs771461040 0.00001
NM_004415.4(DSP):c.6550G>A (p.Val2184Met) rs774832931 0.00001
NM_004415.4(DSP):c.6585T>C (p.His2195=) rs1759541694 0.00001
NM_004415.4(DSP):c.6587C>T (p.Thr2196Ile) rs958098310 0.00001
NM_004415.4(DSP):c.6592C>G (p.Leu2198Val) rs752057967 0.00001
NM_004415.4(DSP):c.6689C>T (p.Pro2230Leu) rs759982048 0.00001
NM_004415.4(DSP):c.6699C>T (p.Val2233=) rs767835744 0.00001
NM_004415.4(DSP):c.677A>G (p.Asn226Ser) rs921332894 0.00001
NM_004415.4(DSP):c.6812A>C (p.Lys2271Thr) rs730880089 0.00001
NM_004415.4(DSP):c.6902T>C (p.Ile2301Thr) rs772381363 0.00001
NM_004415.4(DSP):c.6927G>A (p.Arg2309=) rs747248981 0.00001
NM_004415.4(DSP):c.692A>G (p.Tyr231Cys) rs770210088 0.00001
NM_004415.4(DSP):c.6968T>C (p.Ile2323Thr) rs777901747 0.00001
NM_004415.4(DSP):c.7068G>A (p.Lys2356=) rs762892811 0.00001
NM_004415.4(DSP):c.7083G>A (p.Lys2361=) rs1273820779 0.00001
NM_004415.4(DSP):c.7089C>T (p.His2363=) rs1001343270 0.00001
NM_004415.4(DSP):c.720C>T (p.Ala240=) rs1324798719 0.00001
NM_004415.4(DSP):c.7215C>T (p.Leu2405=) rs191226040 0.00001
NM_004415.4(DSP):c.7396G>A (p.Val2466Met) rs745862520 0.00001
NM_004415.4(DSP):c.7413A>G (p.Pro2471=) rs772161814 0.00001
NM_004415.4(DSP):c.7433C>T (p.Ser2478Phe) rs1759570987 0.00001
NM_004415.4(DSP):c.7451A>G (p.Lys2484Arg) rs1346398330 0.00001
NM_004415.4(DSP):c.7465G>A (p.Asp2489Asn) rs760552749 0.00001
NM_004415.4(DSP):c.7527G>A (p.Thr2509=) rs1405309527 0.00001
NM_004415.4(DSP):c.7530A>G (p.Gly2510=) rs1364525049 0.00001
NM_004415.4(DSP):c.7534G>T (p.Asp2512Tyr) rs772574987 0.00001
NM_004415.4(DSP):c.7551G>A (p.Val2517=) rs754127386 0.00001
NM_004415.4(DSP):c.7641C>G (p.Tyr2547Ter) rs1464253797 0.00001
NM_004415.4(DSP):c.7644A>T (p.Arg2548=) rs886039159 0.00001
NM_004415.4(DSP):c.7650C>T (p.Gly2550=) rs780277298 0.00001
NM_004415.4(DSP):c.7701C>T (p.Val2567=) rs772907439 0.00001
NM_004415.4(DSP):c.7702G>A (p.Gly2568Ser) rs139486943 0.00001
NM_004415.4(DSP):c.7745T>G (p.Phe2582Cys) rs751712837 0.00001
NM_004415.4(DSP):c.7767A>G (p.Ser2589=) rs755928079 0.00001
NM_004415.4(DSP):c.7778T>G (p.Ile2593Ser) rs563272509 0.00001
NM_004415.4(DSP):c.7847C>T (p.Ser2616Leu) rs571577908 0.00001
NM_004415.4(DSP):c.7855A>G (p.Ile2619Val) rs767630308 0.00001
NM_004415.4(DSP):c.7876G>C (p.Glu2626Gln) rs144821643 0.00001
NM_004415.4(DSP):c.7918G>T (p.Gly2640Cys) rs770390645 0.00001
NM_004415.4(DSP):c.7923C>T (p.Ile2641=) rs773906008 0.00001
NM_004415.4(DSP):c.794G>A (p.Arg265Lys) rs1064796438 0.00001
NM_004415.4(DSP):c.7990A>G (p.Thr2664Ala) rs1260154229 0.00001
NM_004415.4(DSP):c.7994C>T (p.Thr2665Met) rs151309106 0.00001
NM_004415.4(DSP):c.8014C>G (p.Gln2672Glu) rs1064793890 0.00001
NM_004415.4(DSP):c.8015A>C (p.Gln2672Pro) rs1060500612 0.00001
NM_004415.4(DSP):c.8050A>G (p.Met2684Val) rs147801650 0.00001
NM_004415.4(DSP):c.8087T>C (p.Ile2696Thr) rs1415854040 0.00001
NM_004415.4(DSP):c.809G>A (p.Arg270Gln) rs1203795810 0.00001
NM_004415.4(DSP):c.8123C>T (p.Ser2708Leu) rs1194266904 0.00001
NM_004415.4(DSP):c.8133G>T (p.Glu2711Asp) rs375348086 0.00001
NM_004415.4(DSP):c.8136A>T (p.Ala2712=) rs1759620884 0.00001
NM_004415.4(DSP):c.8137G>A (p.Val2713Met) rs1219478425 0.00001
NM_004415.4(DSP):c.8152C>A (p.Leu2718Ile) rs727504569 0.00001
NM_004415.4(DSP):c.8169C>T (p.Gly2723=) rs1259495339 0.00001
NM_004415.4(DSP):c.8191T>C (p.Tyr2731His) rs201397978 0.00001
NM_004415.4(DSP):c.8197A>T (p.Thr2733Ser) rs1157650702 0.00001
NM_004415.4(DSP):c.8216C>T (p.Pro2739Leu) rs761527198 0.00001
NM_004415.4(DSP):c.8217G>A (p.Pro2739=) rs755508926 0.00001
NM_004415.4(DSP):c.8277C>T (p.Arg2759=) rs1248664648 0.00001
NM_004415.4(DSP):c.8278G>A (p.Ala2760Thr) rs991726607 0.00001
NM_004415.4(DSP):c.8309A>G (p.Tyr2770Cys) rs371020228 0.00001
NM_004415.4(DSP):c.8330C>A (p.Pro2777His) rs376273136 0.00001
NM_004415.4(DSP):c.8372G>A (p.Arg2791His) rs749339594 0.00001
NM_004415.4(DSP):c.8390T>C (p.Ile2797Thr) rs769734918 0.00001
NM_004415.4(DSP):c.8404C>T (p.Leu2802Phe) rs201271117 0.00001
NM_004415.4(DSP):c.8476C>T (p.Arg2826Cys) rs139969658 0.00001
NM_004415.4(DSP):c.8477G>A (p.Arg2826His) rs548754771 0.00001
NM_004415.4(DSP):c.8508A>G (p.Gly2836=) rs754074127 0.00001
NM_004415.4(DSP):c.8511T>C (p.Ser2837=) rs757475874 0.00001
NM_004415.4(DSP):c.8529T>C (p.Ser2843=) rs780005300 0.00001
NM_004415.4(DSP):c.8539A>C (p.Arg2847=) rs113629968 0.00001
NM_004415.4(DSP):c.8580T>C (p.Tyr2860=) rs201441128 0.00001
NM_004415.4(DSP):c.939+1G>A rs727504443 0.00001
NM_004415.4(DSP):c.946A>G (p.Met316Val) rs201672777 0.00001
NM_004415.4(DSP):c.965A>G (p.Lys322Arg) rs757098196 0.00001
NM_004415.4(DSP):c.9C>T (p.Cys3=) rs769032973 0.00001
NM_004415.2(DSP):c.5671_*835+957del4738insAGAACAGTCTT
NM_004415.2:c.3564_3565insALU
NM_004415.2:c.6060_6061insALU
NM_004415.3(DSP):c.8487_8498del12 rs727504704
NM_004415.4(DSP):c.-2_-1delinsGCA
NM_004415.4(DSP):c.1047C>T (p.Ala349=) rs1758892420
NM_004415.4(DSP):c.1049A>C (p.Tyr350Ser)
NM_004415.4(DSP):c.1060_1061del (p.Leu354fs) rs1249913357
NM_004415.4(DSP):c.1061T>C (p.Leu354Pro)
NM_004415.4(DSP):c.1067C>A (p.Thr356Lys) rs780626687
NM_004415.4(DSP):c.1067C>T (p.Thr356Met) rs780626687
NM_004415.4(DSP):c.1087C>T (p.Gln363Ter) rs778856526
NM_004415.4(DSP):c.1090A>G (p.Ile364Val) rs886038909
NM_004415.4(DSP):c.109A>G (p.Thr37Ala)
NM_004415.4(DSP):c.1102A>G (p.Ile368Val) rs794728112
NM_004415.4(DSP):c.1135T>A (p.Phe379Ile) rs757853478
NM_004415.4(DSP):c.1161T>A (p.Ser387=) rs1758909456
NM_004415.4(DSP):c.1162del (p.Thr388fs) rs1554106742
NM_004415.4(DSP):c.1180G>A (p.Gly394Arg) rs769054351
NM_004415.4(DSP):c.1183C>T (p.Leu395Phe)
NM_004415.4(DSP):c.1188G>T (p.Gln396His)
NM_004415.4(DSP):c.1201A>G (p.Lys401Glu)
NM_004415.4(DSP):c.1222A>G (p.Asn408Asp) rs142129767
NM_004415.4(DSP):c.1228_1229insT (p.Pro410fs)
NM_004415.4(DSP):c.1232dup (p.Gln412fs)
NM_004415.4(DSP):c.123C>G (p.Tyr41Ter) rs1057523045
NM_004415.4(DSP):c.1266+4delinsATA
NM_004415.4(DSP):c.1267-2A>G rs1554106830
NM_004415.4(DSP):c.1273C>T (p.Arg425Ter) rs397516915
NM_004415.4(DSP):c.1282dup (p.Ile428fs) rs1561687796
NM_004415.4(DSP):c.1287T>A (p.Leu429=)
NM_004415.4(DSP):c.12C>G (p.Asn4Lys) rs368802003
NM_004415.4(DSP):c.12C>T (p.Asn4=) rs368802003
NM_004415.4(DSP):c.132G>A (p.Arg44=) rs1204569556
NM_004415.4(DSP):c.1331A>C (p.Lys444Thr) rs1554106843
NM_004415.4(DSP):c.1335T>G (p.Ile445Met) rs898213877
NM_004415.4(DSP):c.1351C>A (p.Arg451Ser)
NM_004415.4(DSP):c.1356C>T (p.Asn452=) rs1187261274
NM_004415.4(DSP):c.137G>C (p.Gly46Ala)
NM_004415.4(DSP):c.1380C>T (p.Pro460=) rs1451086273
NM_004415.4(DSP):c.1419G>A (p.Gln473=)
NM_004415.4(DSP):c.1431T>C (p.His477=) rs1554106904
NM_004415.4(DSP):c.1435G>C (p.Gly479Arg) rs1288305110
NM_004415.4(DSP):c.1438G>T (p.Asp480Tyr)
NM_004415.4(DSP):c.1449C>T (p.Ile483=)
NM_004415.4(DSP):c.1464C>T (p.Asn488=) rs768526275
NM_004415.4(DSP):c.1483_1485delinsTTT (p.Val495Phe) rs1064795582
NM_004415.4(DSP):c.1492C>G (p.Pro498Ala) rs1581803474
NM_004415.4(DSP):c.1500C>T (p.Gly500=) rs762086998
NM_004415.4(DSP):c.1506C>T (p.Asp502=)
NM_004415.4(DSP):c.1507A>G (p.Met503Val)
NM_004415.4(DSP):c.1513G>A (p.Val505Ile)
NM_004415.4(DSP):c.1527G>T (p.Gly509=) rs397516917
NM_004415.4(DSP):c.1548C>G (p.Asn516Lys) rs1407207091
NM_004415.4(DSP):c.1556C>T (p.Ala519Val) rs1395532173
NM_004415.4(DSP):c.1561G>C (p.Asp521His)
NM_004415.4(DSP):c.1575-5C>T
NM_004415.4(DSP):c.157T>G (p.Ser53Ala) rs397516918
NM_004415.4(DSP):c.1587del (p.Tyr530fs)
NM_004415.4(DSP):c.1593A>G (p.Glu531=)
NM_004415.4(DSP):c.159G>A (p.Ser53=)
NM_004415.4(DSP):c.1624A>G (p.Ile542Val) rs2113677376
NM_004415.4(DSP):c.1665T>C (p.Ile555=)
NM_004415.4(DSP):c.1672G>C (p.Glu558Gln)
NM_004415.4(DSP):c.1679T>C (p.Ile560Thr)
NM_004415.4(DSP):c.167A>G (p.Tyr56Cys)
NM_004415.4(DSP):c.1698C>G (p.Ala566=)
NM_004415.4(DSP):c.170+2T>C
NM_004415.4(DSP):c.1707A>G (p.Lys569=) rs1759045455
NM_004415.4(DSP):c.1736C>T (p.Thr579Met)
NM_004415.4(DSP):c.1739T>C (p.Ile580Thr)
NM_004415.4(DSP):c.1743C>A (p.Ala581=) rs139095230
NM_004415.4(DSP):c.1751del (p.Glu584fs) rs727505077
NM_004415.4(DSP):c.1762C>T (p.Gln588Ter) rs1581805658
NM_004415.4(DSP):c.1775G>T (p.Arg592Ile) rs1759048949
NM_004415.4(DSP):c.178G>A (p.Gly60Ser) rs982933033
NM_004415.4(DSP):c.1806T>C (p.Asp602=) rs560969680
NM_004415.4(DSP):c.1816C>G (p.Arg606Gly)
NM_004415.4(DSP):c.1819A>G (p.Lys607Glu)
NM_004415.4(DSP):c.1857C>A (p.Tyr619Ter) rs1554107097
NM_004415.4(DSP):c.1859A>G (p.Gln620Arg)
NM_004415.4(DSP):c.1865T>G (p.Leu622Arg) rs1554107098
NM_004415.4(DSP):c.1867G>A (p.Val623Ile)
NM_004415.4(DSP):c.1873C>T (p.Gln625Ter) rs876657638
NM_004415.4(DSP):c.1895A>C (p.His632Pro)
NM_004415.4(DSP):c.1903+3C>T rs754326012
NM_004415.4(DSP):c.1907C>A (p.Thr636Asn)
NM_004415.4(DSP):c.1908C>T (p.Thr636=)
NM_004415.4(DSP):c.1928A>G (p.His643Arg) rs1759064128
NM_004415.4(DSP):c.192G>A (p.Arg64=) rs908789038
NM_004415.4(DSP):c.1938C>A (p.Cys646Ter)
NM_004415.4(DSP):c.1938C>T (p.Cys646=) rs1759064440
NM_004415.4(DSP):c.1954A>T (p.Asn652Tyr)
NM_004415.4(DSP):c.1963A>G (p.Ile655Val)
NM_004415.4(DSP):c.1993G>A (p.Glu665Lys) rs2113679925
NM_004415.4(DSP):c.1997C>T (p.Thr666Ile) rs200053977
NM_004415.4(DSP):c.1A>G (p.Met1Val) rs1131691557
NM_004415.4(DSP):c.2012A>G (p.Glu671Gly) rs758530970
NM_004415.4(DSP):c.2019G>A (p.Gln673=)
NM_004415.4(DSP):c.2043C>A (p.His681Gln)
NM_004415.4(DSP):c.2074C>G (p.Pro692Ala)
NM_004415.4(DSP):c.2075C>G (p.Pro692Arg)
NM_004415.4(DSP):c.2075C>T (p.Pro692Leu) rs1561690890
NM_004415.4(DSP):c.2119A>G (p.Asn707Asp) rs756272327
NM_004415.4(DSP):c.2159C>G (p.Ala720Gly) rs1261146655
NM_004415.4(DSP):c.2164G>T (p.Val722Phe) rs1581808686
NM_004415.4(DSP):c.2168T>C (p.Leu723Pro) rs1554107443
NM_004415.4(DSP):c.2171A>C (p.Asn724Thr)
NM_004415.4(DSP):c.2184T>C (p.Asp728=) rs750383681
NM_004415.4(DSP):c.2196C>T (p.Asn732=)
NM_004415.4(DSP):c.2201G>A (p.Arg734Lys) rs1561692443
NM_004415.4(DSP):c.2203G>A (p.Gly735Ser)
NM_004415.4(DSP):c.2204G>T (p.Gly735Val) rs1759154089
NM_004415.4(DSP):c.2206T>G (p.Ser736Ala)
NM_004415.4(DSP):c.2234A>C (p.Glu745Ala) rs969462343
NM_004415.4(DSP):c.2247A>C (p.Leu749=) rs28763963
NM_004415.4(DSP):c.2279C>T (p.Thr760Ile)
NM_004415.4(DSP):c.2313G>T (p.Arg771Ser)
NM_004415.4(DSP):c.2326G>A (p.Ala776Thr) rs1759178969
NM_004415.4(DSP):c.2344G>T (p.Asp782Tyr) rs2113684062
NM_004415.4(DSP):c.2351T>A (p.Leu784Ter) rs2113684096
NM_004415.4(DSP):c.2356G>A (p.Val786Ile)
NM_004415.4(DSP):c.2361T>C (p.Tyr787=)
NM_004415.4(DSP):c.2369G>A (p.Arg790Lys)
NM_004415.4(DSP):c.238G>C (p.Asp80His)
NM_004415.4(DSP):c.2437-1G>C rs1057517903
NM_004415.4(DSP):c.243C>T (p.Cys81=) rs947998304
NM_004415.4(DSP):c.2470TTG[1] (p.Leu825del)
NM_004415.4(DSP):c.250C>T (p.Arg84Ter) rs768521444
NM_004415.4(DSP):c.250_273+1del
NM_004415.4(DSP):c.2531A>G (p.Gln844Arg)
NM_004415.4(DSP):c.2547T>A (p.Tyr849Ter) rs1554107624
NM_004415.4(DSP):c.2552T>C (p.Leu851Pro)
NM_004415.4(DSP):c.255A>T (p.Ala85=)
NM_004415.4(DSP):c.2575A>G (p.Lys859Glu) rs1759209975
NM_004415.4(DSP):c.2593_2594dup (p.Asp865fs)
NM_004415.4(DSP):c.2608A>T (p.Ile870Leu) rs1561693971
NM_004415.4(DSP):c.2616dup (p.Gln873fs)
NM_004415.4(DSP):c.262A>G (p.Ile88Val) rs1581791030
NM_004415.4(DSP):c.262A>T (p.Ile88Phe)
NM_004415.4(DSP):c.2637G>A (p.Trp879Ter) rs2113686447
NM_004415.4(DSP):c.2652_2653del (p.Gln884fs)
NM_004415.4(DSP):c.2688G>A (p.Gln896=)
NM_004415.4(DSP):c.2691T>G (p.Ala897=)
NM_004415.4(DSP):c.2703G>T (p.Trp901Cys) rs1057519251
NM_004415.4(DSP):c.2704C>T (p.Leu902Phe) rs1443682154
NM_004415.4(DSP):c.2706_2707del (p.Leu902_Tyr903insTer) rs1759240256
NM_004415.4(DSP):c.2709T>A (p.Tyr903Ter)
NM_004415.4(DSP):c.2723G>T (p.Arg908Leu) rs142494121
NM_004415.4(DSP):c.2747A>C (p.Lys916Thr) rs1554107730
NM_004415.4(DSP):c.274G>A (p.Glu92Lys)
NM_004415.4(DSP):c.2765C>T (p.Thr922Ile) rs755099716
NM_004415.4(DSP):c.277T>C (p.Leu93=) rs1561680562
NM_004415.4(DSP):c.2780dup (p.Leu927fs)
NM_004415.4(DSP):c.2799G>A (p.Leu933=)
NM_004415.4(DSP):c.279G>C (p.Leu93Phe) rs1447901875
NM_004415.4(DSP):c.2821C>T (p.Arg941Ter) rs730880082
NM_004415.4(DSP):c.2829A>C (p.Lys943Asn)
NM_004415.4(DSP):c.2842C>G (p.Gln948Glu)
NM_004415.4(DSP):c.2842del (p.Gln948fs)
NM_004415.4(DSP):c.2876A>C (p.Lys959Thr)
NM_004415.4(DSP):c.2878-3C>T rs1581813359
NM_004415.4(DSP):c.2896G>C (p.Ala966Pro)
NM_004415.4(DSP):c.2897C>T (p.Ala966Val)
NM_004415.4(DSP):c.2904C>T (p.Tyr968=) rs1241595798
NM_004415.4(DSP):c.2917G>C (p.Glu973Gln)
NM_004415.4(DSP):c.2932A>G (p.Ile978Val) rs780823789
NM_004415.4(DSP):c.2936C>G (p.Pro979Arg) rs1759288530
NM_004415.4(DSP):c.293G>C (p.Gly98Ala)
NM_004415.4(DSP):c.2947A>C (p.Thr983Pro)
NM_004415.4(DSP):c.2950A>G (p.Met984Val) rs868110541
NM_004415.4(DSP):c.2951T>A (p.Met984Lys) rs1452300736
NM_004415.4(DSP):c.2957A>C (p.Gln986Pro)
NM_004415.4(DSP):c.2958G>T (p.Gln986His) rs786205415
NM_004415.4(DSP):c.2980dup (p.Gln994fs) rs1581813564
NM_004415.4(DSP):c.3005G>A (p.Arg1002Gln) rs371234425
NM_004415.4(DSP):c.3023C>T (p.Thr1008Ile) rs1334187363
NM_004415.4(DSP):c.3027A>T (p.Arg1009Ser)
NM_004415.4(DSP):c.302T>G (p.Leu101Arg)
NM_004415.4(DSP):c.3048C>T (p.Phe1016=) rs1299556752
NM_004415.4(DSP):c.3070T>G (p.Leu1024Val) rs1474315262
NM_004415.4(DSP):c.3071T>G (p.Leu1024Trp)
NM_004415.4(DSP):c.307C>T (p.Arg103Trp) rs375028675
NM_004415.4(DSP):c.3119A>G (p.Glu1040Gly) rs727505147
NM_004415.4(DSP):c.3126_3127delinsT (p.Arg1042fs) rs1561696970
NM_004415.4(DSP):c.3133C>T (p.Arg1045Ter) rs1554108012
NM_004415.4(DSP):c.313C>T (p.Arg105Ter) rs1435125402
NM_004415.4(DSP):c.3162G>A (p.Lys1054=)
NM_004415.4(DSP):c.3167A>G (p.Lys1056Arg)
NM_004415.4(DSP):c.3172C>G (p.Leu1058Val)
NM_004415.4(DSP):c.3195C>G (p.Tyr1065Ter) rs886039178
NM_004415.4(DSP):c.3231G>C (p.Ala1077=)
NM_004415.4(DSP):c.3259G>A (p.Glu1087Lys) rs1561697118
NM_004415.4(DSP):c.3261G>A (p.Glu1087=) rs1045685133
NM_004415.4(DSP):c.3262C>T (p.Leu1088=)
NM_004415.4(DSP):c.3276G>C (p.Ser1092=) rs202057409
NM_004415.4(DSP):c.3304G>C (p.Gly1102Arg)
NM_004415.4(DSP):c.3311T>C (p.Ile1104Thr)
NM_004415.4(DSP):c.3325G>A (p.Glu1109Lys) rs367763339
NM_004415.4(DSP):c.3329A>C (p.Lys1110Thr)
NM_004415.4(DSP):c.3337C>T (p.Arg1113Ter) rs746877365
NM_004415.4(DSP):c.3339A>T (p.Arg1113=)
NM_004415.4(DSP):c.3344C>T (p.Thr1115Ile) rs1393151720
NM_004415.4(DSP):c.3346T>C (p.Tyr1116His) rs1581815394
NM_004415.4(DSP):c.3373A>G (p.Arg1125Gly)
NM_004415.4(DSP):c.3393A>G (p.Arg1131=)
NM_004415.4(DSP):c.3402A>G (p.Gln1134=)
NM_004415.4(DSP):c.3439C>A (p.Gln1147Lys)
NM_004415.4(DSP):c.343A>C (p.Asn115His)
NM_004415.4(DSP):c.3473T>G (p.Leu1158Ter)
NM_004415.4(DSP):c.3474dup (p.Glu1159fs) rs727503000
NM_004415.4(DSP):c.3490A>C (p.Ile1164Leu)
NM_004415.4(DSP):c.3499_3501del (p.Lys1167del) rs1554108091
NM_004415.4(DSP):c.3513T>G (p.Ile1171Met)
NM_004415.4(DSP):c.3517del (p.Arg1173fs)
NM_004415.4(DSP):c.3519G>A (p.Arg1173=)
NM_004415.4(DSP):c.3526del (p.Val1176fs) rs727505271
NM_004415.4(DSP):c.3535C>T (p.Gln1179Ter) rs1759357763
NM_004415.4(DSP):c.3548C>T (p.Thr1183Ile)
NM_004415.4(DSP):c.35A>G (p.Asn12Ser) rs1239489755
NM_004415.4(DSP):c.3606G>A (p.Glu1202=)
NM_004415.4(DSP):c.3607A>T (p.Met1203Leu)
NM_004415.4(DSP):c.3609_3610delinsAG (p.Met1203_Ser1204delinsIleGly) rs1759361326
NM_004415.4(DSP):c.3610A>G (p.Ser1204Gly)
NM_004415.4(DSP):c.3612del (p.Ser1204fs)
NM_004415.4(DSP):c.3622A>G (p.Asn1208Asp)
NM_004415.4(DSP):c.3630T>A (p.Tyr1210Ter) rs727503001
NM_004415.4(DSP):c.3636A>G (p.Thr1212=)
NM_004415.4(DSP):c.3684del (p.Glu1229fs)
NM_004415.4(DSP):c.3696C>G (p.Ser1232=) rs141120358
NM_004415.4(DSP):c.3735_3741dup (p.Asp1248fs) rs1554108152
NM_004415.4(DSP):c.3743A>C (p.Asp1248Ala) rs1276847644
NM_004415.4(DSP):c.375C>G (p.Ile125Met)
NM_004415.4(DSP):c.3764G>A (p.Arg1255Lys) rs777407386
NM_004415.4(DSP):c.3784C>T (p.Gln1262Ter) rs2113692628
NM_004415.4(DSP):c.3796C>G (p.Gln1266Glu)
NM_004415.4(DSP):c.3799C>G (p.Arg1267Gly)
NM_004415.4(DSP):c.3799C>T (p.Arg1267Ter) rs121912997
NM_004415.4(DSP):c.3806G>A (p.Arg1269Gln) rs876657795
NM_004415.4(DSP):c.3835G>T (p.Ala1279Ser) rs763915365
NM_004415.4(DSP):c.3845C>T (p.Ser1282Phe) rs778780656
NM_004415.4(DSP):c.3850del (p.Glu1283_Ile1284insTer)
NM_004415.4(DSP):c.3864G>T (p.Lys1288Asn) rs768166626
NM_004415.4(DSP):c.3870T>C (p.His1290=)
NM_004415.4(DSP):c.3909_3921del (p.Glu1304fs)
NM_004415.4(DSP):c.3919G>T (p.Ala1307Ser)
NM_004415.4(DSP):c.3931C>T (p.Gln1311Ter)
NM_004415.4(DSP):c.3941A>G (p.Glu1314Gly)
NM_004415.4(DSP):c.3947C>G (p.Ala1316Gly)
NM_004415.4(DSP):c.3956C>T (p.Thr1319Ile) rs138599871
NM_004415.4(DSP):c.397C>G (p.Gln133Glu)
NM_004415.4(DSP):c.3981C>A (p.Ile1327=) rs397516934
NM_004415.4(DSP):c.3982G>A (p.Glu1328Lys) rs746208168
NM_004415.4(DSP):c.4009del (p.Glu1337fs) rs794727381
NM_004415.4(DSP):c.4016A>T (p.Lys1339Met)
NM_004415.4(DSP):c.4018C>G (p.Arg1340Gly) rs768628788
NM_004415.4(DSP):c.4018C>T (p.Arg1340Cys) rs768628788
NM_004415.4(DSP):c.4028A>C (p.Glu1343Ala)
NM_004415.4(DSP):c.402C>T (p.Pro134=) rs373685989
NM_004415.4(DSP):c.4093C>A (p.Gln1365Lys)
NM_004415.4(DSP):c.4098T>G (p.Phe1366Leu)
NM_004415.4(DSP):c.4108A>G (p.Ile1370Val)
NM_004415.4(DSP):c.4109T>A (p.Ile1370Asn) rs1759384359
NM_004415.4(DSP):c.4130T>A (p.Ile1377Asn) rs1215591946
NM_004415.4(DSP):c.4153_4156del (p.Glu1385fs) rs1759385935
NM_004415.4(DSP):c.4172A>C (p.Tyr1391Ser) rs727504547
NM_004415.4(DSP):c.418A>G (p.Lys140Glu)
NM_004415.4(DSP):c.4196C>T (p.Thr1399Ile)
NM_004415.4(DSP):c.4198C>T (p.Arg1400Ter) rs770873593
NM_004415.4(DSP):c.4199G>T (p.Arg1400Leu)
NM_004415.4(DSP):c.4202A>T (p.Glu1401Val) rs1759389046
NM_004415.4(DSP):c.4209G>A (p.Arg1403=) rs1561698567
NM_004415.4(DSP):c.423-1G>T rs1304410089
NM_004415.4(DSP):c.4235_4237delinsG (p.Leu1412fs) rs1554108280
NM_004415.4(DSP):c.4236G>A (p.Leu1412=)
NM_004415.4(DSP):c.4244C>T (p.Thr1415Ile)
NM_004415.4(DSP):c.4251C>A (p.Thr1417=)
NM_004415.4(DSP):c.4261G>A (p.Glu1421Lys) rs769965019
NM_004415.4(DSP):c.4311C>T (p.Gly1437=) rs781353867
NM_004415.4(DSP):c.4332A>C (p.Lys1444Asn) rs1374798133
NM_004415.4(DSP):c.4352T>C (p.Leu1451Pro) rs1554108296
NM_004415.4(DSP):c.4353_4357del (p.Arg1452fs) rs886039009
NM_004415.4(DSP):c.4364C>T (p.Thr1455Ile)
NM_004415.4(DSP):c.4372C>T (p.Arg1458Ter) rs28763965
NM_004415.4(DSP):c.4379A>G (p.Glu1460Gly) rs1759396646
NM_004415.4(DSP):c.4385_4386delinsTT (p.Ser1462Ile) rs730880090
NM_004415.4(DSP):c.43G>A (p.Gly15Ser)
NM_004415.4(DSP):c.4412A>C (p.Asp1471Ala)
NM_004415.4(DSP):c.441G>A (p.Glu147=)
NM_004415.4(DSP):c.4421A>G (p.Lys1474Arg) rs756456881
NM_004415.4(DSP):c.4423del (p.Thr1475fs) rs1227662860
NM_004415.4(DSP):c.4472A>G (p.Asp1491Gly) rs397516938
NM_004415.4(DSP):c.4487A>T (p.Asp1496Val)
NM_004415.4(DSP):c.448C>T (p.Arg150Ter) rs2113659637
NM_004415.4(DSP):c.4509A>G (p.Glu1503=) rs1350066172
NM_004415.4(DSP):c.4512C>T (p.Asn1504=) rs140993677
NM_004415.4(DSP):c.4514C>G (p.Ala1505Gly)
NM_004415.4(DSP):c.4515G>A (p.Ala1505=) rs193197554
NM_004415.4(DSP):c.4527_4559del (p.Arg1509_Ser1519del) rs397516939
NM_004415.4(DSP):c.4558A>T (p.Ser1520Cys) rs780953141
NM_004415.4(DSP):c.4571C>T (p.Thr1524Ile) rs397516941
NM_004415.4(DSP):c.4578del (p.Asn1526fs)
NM_004415.4(DSP):c.4609C>A (p.Arg1537Ser)
NM_004415.4(DSP):c.4632G>T (p.Arg1544Ser)
NM_004415.4(DSP):c.4636T>C (p.Ser1546Pro) rs1280704171
NM_004415.4(DSP):c.463G>A (p.Ala155Thr)
NM_004415.4(DSP):c.4648A>T (p.Thr1550Ser)
NM_004415.4(DSP):c.4672C>T (p.Arg1558Trp)
NM_004415.4(DSP):c.4679A>G (p.Gln1560Arg) rs796530013
NM_004415.4(DSP):c.4686T>C (p.Ser1562=)
NM_004415.4(DSP):c.46C>T (p.Arg16Cys)
NM_004415.4(DSP):c.4713G>C (p.Gln1571His) rs375381133
NM_004415.4(DSP):c.4717G>A (p.Val1573Met) rs370171270
NM_004415.4(DSP):c.4723G>A (p.Glu1575Lys) rs727503002
NM_004415.4(DSP):c.4769A>G (p.Lys1590Arg) rs2113694864
NM_004415.4(DSP):c.4780C>G (p.Leu1594Val) rs149463707
NM_004415.4(DSP):c.4789G>T (p.Glu1597Ter) rs1259613160
NM_004415.4(DSP):c.478C>T (p.Arg160Ter) rs397516943
NM_004415.4(DSP):c.47G>C (p.Arg16Pro) rs752387234
NM_004415.4(DSP):c.4822C>T (p.Gln1608Ter) rs1060500610
NM_004415.4(DSP):c.4837A>T (p.Thr1613Ser)
NM_004415.4(DSP):c.484C>G (p.Arg162Gly) rs760711308
NM_004415.4(DSP):c.485G>A (p.Arg162His) rs397516944
NM_004415.4(DSP):c.4865C>T (p.Ala1622Val)
NM_004415.4(DSP):c.4868C>G (p.Ser1623Cys) rs908086952
NM_004415.4(DSP):c.4870A>G (p.Ile1624Val)
NM_004415.4(DSP):c.4881G>A (p.Lys1627=)
NM_004415.4(DSP):c.4882_4886delinsTTCT (p.Arg1628fs) rs1554108410
NM_004415.4(DSP):c.4894G>A (p.Asp1632Asn) rs747279731
NM_004415.4(DSP):c.4908G>C (p.Gln1636His)
NM_004415.4(DSP):c.4957G>A (p.Glu1653Lys)
NM_004415.4(DSP):c.4994G>C (p.Arg1665Thr) rs1290867734
NM_004415.4(DSP):c.49A>G (p.Met17Val)
NM_004415.4(DSP):c.5020A>G (p.Ser1674Gly)
NM_004415.4(DSP):c.5028A>G (p.Lys1676=)
NM_004415.4(DSP):c.5057A>T (p.Gln1686Leu)
NM_004415.4(DSP):c.5061G>C (p.Lys1687Asn) rs754404501
NM_004415.4(DSP):c.5064G>A (p.Ala1688=) rs886061747
NM_004415.4(DSP):c.5095A>C (p.Ser1699Arg)
NM_004415.4(DSP):c.5108T>A (p.Ile1703Asn) rs794728123
NM_004415.4(DSP):c.5115G>C (p.Arg1705Ser)
NM_004415.4(DSP):c.5123C>G (p.Ser1708Cys) rs372452104
NM_004415.4(DSP):c.5135A>T (p.Asn1712Ile) rs1759433132
NM_004415.4(DSP):c.5161GAA[2] (p.Glu1723del) rs730880091
NM_004415.4(DSP):c.517A>C (p.Thr173Pro)
NM_004415.4(DSP):c.5191T>A (p.Tyr1731Asn)
NM_004415.4(DSP):c.5212C>T (p.Arg1738Ter) rs794728124
NM_004415.4(DSP):c.5223G>C (p.Ala1741=) rs201984474
NM_004415.4(DSP):c.5231A>G (p.Asp1744Gly)
NM_004415.4(DSP):c.5274C>G (p.Ile1758Met)
NM_004415.4(DSP):c.5286G>A (p.Arg1762=)
NM_004415.4(DSP):c.5291T>A (p.Leu1764Gln) rs767885673
NM_004415.4(DSP):c.5304G>A (p.Gly1768=)
NM_004415.4(DSP):c.5305C>T (p.Leu1769=)
NM_004415.4(DSP):c.5310T>G (p.Ile1770Met)
NM_004415.4(DSP):c.531C>T (p.Gly177=)
NM_004415.4(DSP):c.5327_5330del (p.Glu1776fs) rs1394836623
NM_004415.4(DSP):c.5329_5330del (p.Arg1777fs)
NM_004415.4(DSP):c.5351T>C (p.Ile1784Thr) rs1554108491
NM_004415.4(DSP):c.5361C>T (p.Phe1787=)
NM_004415.4(DSP):c.5382A>G (p.Ala1794=)
NM_004415.4(DSP):c.5391G>A (p.Arg1797=) rs778745098
NM_004415.4(DSP):c.5402_5424delinsTGA (p.Ser1801fs)
NM_004415.4(DSP):c.540G>C (p.Trp180Cys)
NM_004415.4(DSP):c.5439G>C (p.Glu1813Asp) rs1759477469
NM_004415.4(DSP):c.5455del (p.Ile1819fs)
NM_004415.4(DSP):c.5488C>T (p.Gln1830Ter)
NM_004415.4(DSP):c.5499G>A (p.Glu1833=) rs775969808
NM_004415.4(DSP):c.5512C>G (p.Arg1838Gly)
NM_004415.4(DSP):c.5527C>G (p.Leu1843Val)
NM_004415.4(DSP):c.5532G>A (p.Glu1844=) rs2113698068
NM_004415.4(DSP):c.5542A>G (p.Arg1848Gly) rs886038805
NM_004415.4(DSP):c.5553G>A (p.Gln1851=)
NM_004415.4(DSP):c.5562G>A (p.Glu1854=)
NM_004415.4(DSP):c.557_558del (p.His186fs)
NM_004415.4(DSP):c.5587G>A (p.Asp1863Asn)
NM_004415.4(DSP):c.5633T>C (p.Ile1878Thr) rs1581820615
NM_004415.4(DSP):c.5649G>T (p.Ser1883=)
NM_004415.4(DSP):c.5657A>G (p.Glu1886Gly) rs1759489572
NM_004415.4(DSP):c.5680_5683del (p.Ser1894fs) rs774763657
NM_004415.4(DSP):c.5697C>G (p.Ile1899Met)
NM_004415.4(DSP):c.56G>A (p.Arg19His) rs1757992558
NM_004415.4(DSP):c.5733G>A (p.Glu1911=)
NM_004415.4(DSP):c.5736G>A (p.Arg1912=) rs371873840
NM_004415.4(DSP):c.5736G>T (p.Arg1912Ser) rs371873840
NM_004415.4(DSP):c.5745dup (p.Lys1916Ter) rs1060500607
NM_004415.4(DSP):c.5748G>A (p.Lys1916=)
NM_004415.4(DSP):c.5749C>G (p.Leu1917Val)
NM_004415.4(DSP):c.5757T>G (p.Asp1919Glu) rs727504871
NM_004415.4(DSP):c.5764A>G (p.Arg1922Gly)
NM_004415.4(DSP):c.5773_5774del (p.Gln1925fs) rs1561701401
NM_004415.4(DSP):c.5785G>A (p.Glu1929Lys)
NM_004415.4(DSP):c.5798C>G (p.Ser1933Cys)
NM_004415.4(DSP):c.5802A>G (p.Arg1934=)
NM_004415.4(DSP):c.5808G>A (p.Gln1936=)
NM_004415.4(DSP):c.5829_5832del (p.Arg1943fs)
NM_004415.4(DSP):c.5838A>G (p.Pro1946=)
NM_004415.4(DSP):c.5840A>G (p.Tyr1947Cys)
NM_004415.4(DSP):c.5859C>T (p.Thr1953=)
NM_004415.4(DSP):c.5987del (p.Lys1996fs) rs1759510200
NM_004415.4(DSP):c.6002T>G (p.Val2001Gly)
NM_004415.4(DSP):c.603G>A (p.Glu201=) rs770080985
NM_004415.4(DSP):c.6041G>A (p.Gly2014Asp)
NM_004415.4(DSP):c.6045A>G (p.Ala2015=)
NM_004415.4(DSP):c.604A>G (p.Met202Val)
NM_004415.4(DSP):c.6055G>T (p.Ala2019Ser) rs771974957
NM_004415.4(DSP):c.6068C>G (p.Ala2023Gly)
NM_004415.4(DSP):c.6072T>C (p.Ser2024=)
NM_004415.4(DSP):c.6073C>T (p.Pro2025Ser) rs1759514545
NM_004415.4(DSP):c.6091_6092del (p.Leu2031fs) rs397514040
NM_004415.4(DSP):c.6092T>C (p.Leu2031Ser)
NM_004415.4(DSP):c.612G>C (p.Met204Ile) rs1021314728
NM_004415.4(DSP):c.6148G>C (p.Glu2050Gln)
NM_004415.4(DSP):c.6170del (p.Gly2057fs)
NM_004415.4(DSP):c.6187C>T (p.Arg2063Trp) rs374090050
NM_004415.4(DSP):c.6201G>A (p.Leu2067=)
NM_004415.4(DSP):c.6204T>C (p.Thr2068=)
NM_004415.4(DSP):c.6241G>T (p.Asp2081Tyr)
NM_004415.4(DSP):c.6253C>T (p.Gln2085Ter)
NM_004415.4(DSP):c.6258A>G (p.Ile2086Met)
NM_004415.4(DSP):c.6271A>G (p.Lys2091Glu)
NM_004415.4(DSP):c.6274G>A (p.Ala2092Thr)
NM_004415.4(DSP):c.627G>A (p.Val209=)
NM_004415.4(DSP):c.6284G>A (p.Gly2095Asp) rs1554108784
NM_004415.4(DSP):c.6295_6296delinsAT (p.Pro2099Ile) rs587782942
NM_004415.4(DSP):c.6318del (p.Val2107fs) rs2113699991
NM_004415.4(DSP):c.6335A>G (p.Lys2112Arg)
NM_004415.4(DSP):c.6336del (p.Asn2114fs)
NM_004415.4(DSP):c.6349G>C (p.Asp2117His)
NM_004415.4(DSP):c.6367C>A (p.Arg2123Ser)
NM_004415.4(DSP):c.6369C>A (p.Arg2123=)
NM_004415.4(DSP):c.6370C>T (p.Leu2124=)
NM_004415.4(DSP):c.6378A>G (p.Glu2126=)
NM_004415.4(DSP):c.6386T>G (p.Ile2129Ser) rs1401697610
NM_004415.4(DSP):c.6396G>A (p.Gly2132=)
NM_004415.4(DSP):c.6401T>C (p.Val2134Ala)
NM_004415.4(DSP):c.6402A>G (p.Val2134=)
NM_004415.4(DSP):c.6408C>T (p.Asp2136=) rs771641035
NM_004415.4(DSP):c.6432A>T (p.Pro2144=) rs773730187
NM_004415.4(DSP):c.6441C>T (p.Val2147=) rs762513279
NM_004415.4(DSP):c.6449C>T (p.Ala2150Val)
NM_004415.4(DSP):c.6459G>A (p.Leu2153=)
NM_004415.4(DSP):c.6466dup (p.Arg2156fs) rs1554108859
NM_004415.4(DSP):c.646dup (p.Gln216fs) rs2113665124
NM_004415.4(DSP):c.6496C>T (p.Arg2166Ter) rs141026028
NM_004415.4(DSP):c.6504_6507del (p.Ser2168fs) rs1561702640
NM_004415.4(DSP):c.6516del (p.Phe2172fs)
NM_004415.4(DSP):c.6547T>C (p.Tyr2183His) rs763549172
NM_004415.4(DSP):c.6553C>T (p.Gln2185Ter)
NM_004415.4(DSP):c.6564A>G (p.Glu2188=)
NM_004415.4(DSP):c.6572G>A (p.Arg2191Lys) rs527888978
NM_004415.4(DSP):c.657C>T (p.Asn219=)
NM_004415.4(DSP):c.6580C>T (p.Pro2194Ser)
NM_004415.4(DSP):c.6583C>T (p.His2195Tyr)
NM_004415.4(DSP):c.6584A>G (p.His2195Arg)
NM_004415.4(DSP):c.6586A>G (p.Thr2196Ala) rs2113700741
NM_004415.4(DSP):c.6631C>T (p.Gln2211Ter)
NM_004415.4(DSP):c.6657C>T (p.Val2219=)
NM_004415.4(DSP):c.6669A>T (p.Val2223=)
NM_004415.4(DSP):c.6705A>T (p.Glu2235Asp)
NM_004415.4(DSP):c.6718C>A (p.Gln2240Lys) rs374262024
NM_004415.4(DSP):c.6720G>T (p.Gln2240His)
NM_004415.4(DSP):c.6764A>G (p.Gln2255Arg)
NM_004415.4(DSP):c.6772A>G (p.Ser2258Gly) rs886038842
NM_004415.4(DSP):c.6778A>G (p.Ile2260Val)
NM_004415.4(DSP):c.67G>A (p.Gly23Ser) rs1757993019
NM_004415.4(DSP):c.682A>G (p.Ile228Val) rs934038992
NM_004415.4(DSP):c.685G>A (p.Gly229Ser) rs376185352
NM_004415.4(DSP):c.686G>A (p.Gly229Asp)
NM_004415.4(DSP):c.6873G>A (p.Leu2291=)
NM_004415.4(DSP):c.6874C>T (p.Leu2292=)
NM_004415.4(DSP):c.6887C>T (p.Ala2296Val)
NM_004415.4(DSP):c.688G>T (p.Asp230Tyr)
NM_004415.4(DSP):c.6917G>C (p.Ser2306Thr)
NM_004415.4(DSP):c.6924G>C (p.Leu2308Phe)
NM_004415.4(DSP):c.6945C>A (p.Ala2315=) rs761888068
NM_004415.4(DSP):c.6954_6955del (p.Gly2319fs) rs1554108929
NM_004415.4(DSP):c.695G>T (p.Arg232Leu)
NM_004415.4(DSP):c.6974T>G (p.Phe2325Cys) rs1349503429
NM_004415.4(DSP):c.699G>A (p.Trp233Ter) rs397516955
NM_004415.4(DSP):c.6C>T (p.Ser2=) rs776052488
NM_004415.4(DSP):c.7017T>C (p.Tyr2339=) rs753946358
NM_004415.4(DSP):c.7019A>G (p.Asn2340Ser)
NM_004415.4(DSP):c.7021G>A (p.Asp2341Asn) rs200314271
NM_004415.4(DSP):c.7060A>G (p.Met2354Val)
NM_004415.4(DSP):c.7119A>C (p.Ala2373=)
NM_004415.4(DSP):c.7121_7122delinsTT (p.Thr2374Ile)
NM_004415.4(DSP):c.7123G>C (p.Gly2375Arg) rs376923069
NM_004415.4(DSP):c.712dup (p.Ile238fs) rs397516956
NM_004415.4(DSP):c.7205G>C (p.Ser2402Thr)
NM_004415.4(DSP):c.7249G>A (p.Asp2417Asn)
NM_004415.4(DSP):c.7257C>T (p.Asn2419=)
NM_004415.4(DSP):c.726+1G>A
NM_004415.4(DSP):c.7269T>C (p.Asn2423=) rs1759564582
NM_004415.4(DSP):c.7272T>C (p.Leu2424=)
NM_004415.4(DSP):c.7297T>A (p.Cys2433Ser)
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.7346del (p.Lys2449fs)
NM_004415.4(DSP):c.7347GAA[1] (p.Lys2451del) rs766860183
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.7418_7425dup (p.Glu2476fs)
NM_004415.4(DSP):c.743T>C (p.Ile248Thr) rs1455602530
NM_004415.4(DSP):c.7456G>A (p.Gly2486Ser)
NM_004415.4(DSP):c.7477T>G (p.Phe2493Val) rs138798656
NM_004415.4(DSP):c.7500A>G (p.Glu2500=) rs1554109015
NM_004415.4(DSP):c.7557G>A (p.Leu2519=) rs397516957
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.7589T>C (p.Ile2530Thr) rs768564872
NM_004415.4(DSP):c.7592A>C (p.Gln2531Pro)
NM_004415.4(DSP):c.7612C>T (p.Leu2538Phe)
NM_004415.4(DSP):c.7643G>C (p.Arg2548Pro)
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.7650C>G (p.Gly2550=)
NM_004415.4(DSP):c.7678A>G (p.Met2560Val)
NM_004415.4(DSP):c.7718T>C (p.Met2573Thr) rs1759589574
NM_004415.4(DSP):c.7747A>C (p.Ser2583Arg)
NM_004415.4(DSP):c.774G>C (p.Leu258=) rs753228677
NM_004415.4(DSP):c.777+1G>A
NM_004415.4(DSP):c.778-2A>G rs113726158
NM_004415.4(DSP):c.7780dup (p.Ser2594fs)
NM_004415.4(DSP):c.7795G>A (p.Val2599Ile)
NM_004415.4(DSP):c.781G>A (p.Ala261Thr) rs967465931
NM_004415.4(DSP):c.7823C>A (p.Ser2608Tyr) rs777066674
NM_004415.4(DSP):c.782C>G (p.Ala261Gly)
NM_004415.4(DSP):c.7831G>T (p.Asp2611Tyr)
NM_004415.4(DSP):c.7837C>G (p.Leu2613Val) rs1286275087
NM_004415.4(DSP):c.7851C>T (p.Ser2617=)
NM_004415.4(DSP):c.7893C>T (p.Ile2631=) rs778552693
NM_004415.4(DSP):c.78G>T (p.Leu26=) rs71559180
NM_004415.4(DSP):c.7902A>T (p.Thr2634=)
NM_004415.4(DSP):c.7923C>A (p.Ile2641=)
NM_004415.4(DSP):c.7939G>A (p.Gly2647Ser)
NM_004415.4(DSP):c.7991C>A (p.Thr2664Asn) rs1759611499
NM_004415.4(DSP):c.8001G>C (p.Gln2667His) rs758047603
NM_004415.4(DSP):c.8017G>A (p.Asp2673Asn)
NM_004415.4(DSP):c.8034T>C (p.Gly2678=)
NM_004415.4(DSP):c.8068C>A (p.Pro2690Thr)
NM_004415.4(DSP):c.8106G>A (p.Lys2702=)
NM_004415.4(DSP):c.8111AGA[2] (p.Lys2706del) rs397516962
NM_004415.4(DSP):c.8122T>A (p.Ser2708Thr) rs924262414
NM_004415.4(DSP):c.8128G>T (p.Ala2710Ser) rs1561705003
NM_004415.4(DSP):c.8132A>G (p.Glu2711Gly)
NM_004415.4(DSP):c.8133G>A (p.Glu2711=) rs375348086
NM_004415.4(DSP):c.8139G>C (p.Val2713=) rs555992606
NM_004415.4(DSP):c.8156C>T (p.Pro2719Leu)
NM_004415.4(DSP):c.8163G>A (p.Glu2721=)
NM_004415.4(DSP):c.8170C>T (p.Gln2724Ter) rs879254353
NM_004415.4(DSP):c.8173C>A (p.Arg2725Ser)
NM_004415.4(DSP):c.8178C>T (p.Phe2726=) rs901698792
NM_004415.4(DSP):c.8183A>C (p.Glu2728Ala)
NM_004415.4(DSP):c.8188del (p.Gln2730fs) rs886038929
NM_004415.4(DSP):c.81C>A (p.Arg27=) rs773559423
NM_004415.4(DSP):c.8208dup (p.Val2737fs) rs1581825892
NM_004415.4(DSP):c.8213A>G (p.Asp2738Gly) rs2113704486
NM_004415.4(DSP):c.8215C>T (p.Pro2739Ser)
NM_004415.4(DSP):c.822CAT[1] (p.Ile276del)
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.8247A>C (p.Glu2749Asp)
NM_004415.4(DSP):c.8254C>T (p.Arg2752Trp)
NM_004415.4(DSP):c.8262G>T (p.Gly2754=) rs187226788
NM_004415.4(DSP):c.8270A>C (p.Asp2757Ala)
NM_004415.4(DSP):c.8276G>A (p.Arg2759His) rs936541705
NM_004415.4(DSP):c.8300C>G (p.Thr2767Ser)
NM_004415.4(DSP):c.8300C>T (p.Thr2767Ile) rs34884895
NM_004415.4(DSP):c.8302A>G (p.Ser2768Gly)
NM_004415.4(DSP):c.8304C>G (p.Ser2768Arg)
NM_004415.4(DSP):c.8305A>G (p.Ser2769Gly)
NM_004415.4(DSP):c.8312C>T (p.Ala2771Val)
NM_004415.4(DSP):c.8322G>C (p.Leu2774=)
NM_004415.4(DSP):c.8347A>G (p.Ile2783Val) rs786205417
NM_004415.4(DSP):c.8426C>T (p.Ser2809Leu)
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.8464G>C (p.Ala2822Pro)
NM_004415.4(DSP):c.8466T>C (p.Ala2822=)
NM_004415.4(DSP):c.8472_8483del (p.2827_2830SGSR[4]) rs397516967
NM_004415.4(DSP):c.8481_8492del (p.2827_2830SGSR[4]) rs397516968
NM_004415.4(DSP):c.8492C>T (p.Ser2831Leu)
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.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.8505C>G (p.Ser2835=)
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.8518G>A (p.Gly2840Arg)
NM_004415.4(DSP):c.8527A>C (p.Ser2843Arg)
NM_004415.4(DSP):c.8529_8540del (p.2827_2830SGSR[4]) rs794728151
NM_004415.4(DSP):c.8560G>A (p.Gly2854Arg)
NM_004415.4(DSP):c.8577_8588del (p.2858YS[1]) rs2113705755
NM_004415.4(DSP):c.8591T>A (p.Phe2864Tyr) rs1554109334
NM_004415.4(DSP):c.8596AGT[1] (p.Ser2868del)
NM_004415.4(DSP):c.868G>A (p.Glu290Lys) rs397516974
NM_004415.4(DSP):c.898G>T (p.Asp300Tyr)
NM_004415.4(DSP):c.913A>G (p.Ile305Val) rs17604693
NM_004415.4(DSP):c.922A>C (p.Lys308Gln) rs1060500617
NM_004415.4(DSP):c.928dup (p.Glu310fs) rs794728137
NM_004415.4(DSP):c.935_937del (p.Phe312del) rs794728138
NM_004415.4(DSP):c.938C>T (p.Ser313Phe)
NM_004415.4(DSP):c.944G>T (p.Arg315Leu) rs558825586
NM_004415.4(DSP):c.945C>T (p.Arg315=)
NM_004415.4(DSP):c.967G>C (p.Glu323Gln) rs1057522287
NM_004415.4(DSP):c.978C>A (p.Leu326=)
NM_004415.4(DSP):c.983A>C (p.Lys328Thr)
NM_004415.4(DSP):c.991C>T (p.Gln331Ter) rs121912991
NM_004415.4(DSP):c.99C>T (p.Gly33=) rs755898551

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