ClinVar Miner

List of variants in gene DSP reported as likely benign for Cardiovascular phenotype

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 550
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HGVS dbSNP gnomAD frequency
NM_004415.4(DSP):c.6208G>A (p.Asp2070Asn) rs41302885 0.00290
NM_004415.4(DSP):c.4383G>A (p.Glu1461=) rs140029036 0.00197
NM_004415.4(DSP):c.2596C>T (p.Arg866Cys) rs142429411 0.00196
NM_004415.4(DSP):c.1488G>A (p.Thr496=) rs35820473 0.00183
NM_004415.4(DSP):c.1206G>A (p.Lys402=) rs150422458 0.00182
NM_004415.4(DSP):c.4489C>T (p.Arg1497Trp) rs148041814 0.00164
NM_004415.4(DSP):c.1920C>T (p.Ile640=) rs74806300 0.00156
NM_004415.4(DSP):c.6678T>A (p.Gly2226=) rs149070106 0.00133
NM_004415.4(DSP):c.3696C>A (p.Ser1232=) rs141120358 0.00131
NM_004415.4(DSP):c.4372C>G (p.Arg1458Gly) rs28763965 0.00131
NM_004415.4(DSP):c.2773C>T (p.Arg925Trp) rs145933612 0.00129
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.5218G>A (p.Glu1740Lys) rs142885240 0.00091
NM_004415.4(DSP):c.7734C>T (p.Ser2578=) rs28763970 0.00087
NM_004415.4(DSP):c.4065T>C (p.Tyr1355=) rs148478829 0.00067
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.5167G>C (p.Glu1723Gln) rs142803672 0.00041
NM_004415.4(DSP):c.4500G>T (p.Leu1500=) rs372881903 0.00039
NM_004415.4(DSP):c.8199G>C (p.Thr2733=) rs145085696 0.00037
NM_004415.4(DSP):c.6319G>C (p.Val2107Leu) rs144263721 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 0.00028
NM_004415.4(DSP):c.1154C>T (p.Ala385Val) rs146737031 0.00027
NM_004415.4(DSP):c.5991G>A (p.Gly1997=) rs538244495 0.00027
NM_004415.4(DSP):c.1696G>A (p.Ala566Thr) rs148147581 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.2794-4dup rs397516924 0.00023
NM_004415.4(DSP):c.6381C>T (p.Ala2127=) rs146315412 0.00023
NM_004415.4(DSP):c.6207C>T (p.Val2069=) rs147398792 0.00020
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.2422C>T (p.Arg808Cys) rs150339369 0.00019
NM_004415.4(DSP):c.3862A>C (p.Lys1288Gln) rs138907450 0.00019
NM_004415.4(DSP):c.6351T>C (p.Asp2117=) rs148743859 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.8415C>T (p.Ala2805=) rs377148997 0.00017
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.2468C>T (p.Ser823Leu) rs141834182 0.00015
NM_004415.4(DSP):c.242G>A (p.Cys81Tyr) rs140965835 0.00014
NM_004415.4(DSP):c.6192T>C (p.Asn2064=) rs371230455 0.00014
NM_004415.4(DSP):c.687C>T (p.Gly229=) rs112877191 0.00014
NM_004415.4(DSP):c.2247A>G (p.Leu749=) rs28763963 0.00013
NM_004415.4(DSP):c.2774G>A (p.Arg925Gln) rs139799237 0.00013
NM_004415.4(DSP):c.4320G>A (p.Val1440=) rs571103583 0.00013
NM_004415.4(DSP):c.4943A>G (p.Gln1648Arg) rs202232360 0.00013
NM_004415.4(DSP):c.5593A>T (p.Asn1865Tyr) rs562015789 0.00013
NM_004415.4(DSP):c.7599T>C (p.Ala2533=) rs374266378 0.00013
NM_004415.4(DSP):c.2037A>G (p.Ile679Met) rs151049942 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.6753G>A (p.Lys2251=) rs750294829 0.00011
NM_004415.4(DSP):c.6799A>T (p.Thr2267Ser) rs181378432 0.00011
NM_004415.4(DSP):c.7125G>A (p.Gly2375=) rs141709096 0.00011
NM_004415.4(DSP):c.816G>A (p.Leu272=) rs376184294 0.00011
NM_004415.4(DSP):c.897C>T (p.Ser299=) rs121912992 0.00011
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.667G>A (p.Gly223Ser) rs200806163 0.00010
NM_004415.4(DSP):c.7278T>C (p.Tyr2426=) rs78843072 0.00010
NM_004415.4(DSP):c.8173C>T (p.Arg2725Cys) rs141078292 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.3981C>T (p.Ile1327=) rs397516934 0.00009
NM_004415.4(DSP):c.4750G>A (p.Ala1584Thr) rs191778417 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.6307A>G (p.Lys2103Glu) rs149513743 0.00009
NM_004415.4(DSP):c.7077C>T (p.Ile2359=) rs966841386 0.00009
NM_004415.4(DSP):c.8544A>C (p.Gly2848=) rs201876903 0.00009
NM_004415.4(DSP):c.888C>T (p.Tyr296=) rs149701627 0.00009
NM_004415.4(DSP):c.3096C>T (p.Thr1032=) rs139199849 0.00008
NM_004415.4(DSP):c.3102C>T (p.Ile1034=) rs569974617 0.00008
NM_004415.4(DSP):c.4401A>G (p.Gln1467=) rs199818953 0.00008
NM_004415.4(DSP):c.5316T>C (p.Asp1772=) rs376186141 0.00008
NM_004415.4(DSP):c.7557G>A (p.Leu2519=) rs397516957 0.00008
NM_004415.4(DSP):c.1839C>T (p.Thr613=) rs397516921 0.00007
NM_004415.4(DSP):c.4749C>T (p.Thr1583=) rs745348231 0.00007
NM_004415.4(DSP):c.5555G>A (p.Arg1852His) rs193922669 0.00007
NM_004415.4(DSP):c.7563T>C (p.Asp2521=) rs984412074 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.2684A>G (p.Tyr895Cys) rs367752002 0.00006
NM_004415.4(DSP):c.4914C>T (p.Asp1638=) rs750113099 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.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.8268A>C (p.Ile2756=) rs397516963 0.00006
NM_004415.4(DSP):c.915C>T (p.Ile305=) rs148395326 0.00006
NM_004415.4(DSP):c.1005A>G (p.Gln335=) rs200961741 0.00005
NM_004415.4(DSP):c.1983T>C (p.Asn661=) rs770735715 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.8462C>T (p.Ser2821Leu) rs201826850 0.00005
NM_004415.4(DSP):c.8507G>A (p.Gly2836Glu) rs764232504 0.00005
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.2360A>G (p.Tyr787Cys) rs778350289 0.00004
NM_004415.4(DSP):c.2568C>T (p.Phe856=) rs746036365 0.00004
NM_004415.4(DSP):c.2765C>T (p.Thr922Ile) rs755099716 0.00004
NM_004415.4(DSP):c.2796C>T (p.Asn932=) rs368981849 0.00004
NM_004415.4(DSP):c.4752G>A (p.Ala1584=) rs201213622 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.5554C>T (p.Arg1852Cys) rs550818559 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.8229G>A (p.Gly2743=) rs1060503979 0.00004
NM_004415.4(DSP):c.99C>T (p.Gly33=) rs755898551 0.00004
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.1677G>A (p.Lys559=) rs143356115 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.2052C>A (p.Gly684=) rs760191477 0.00003
NM_004415.4(DSP):c.2310A>C (p.Val770=) rs762909119 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.3231G>A (p.Ala1077=) rs368214030 0.00003
NM_004415.4(DSP):c.3275C>T (p.Ser1092Leu) rs755481878 0.00003
NM_004415.4(DSP):c.3606G>A (p.Glu1202=) rs143657621 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.4041A>G (p.Glu1347=) rs200671552 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.4540C>T (p.Leu1514=) rs754783192 0.00003
NM_004415.4(DSP):c.4741A>G (p.Lys1581Glu) rs186842903 0.00003
NM_004415.4(DSP):c.4983C>T (p.Val1661=) rs755233649 0.00003
NM_004415.4(DSP):c.4992G>C (p.Leu1664=) rs772302453 0.00003
NM_004415.4(DSP):c.5193C>T (p.Tyr1731=) rs201663619 0.00003
NM_004415.4(DSP):c.5223G>A (p.Ala1741=) rs201984474 0.00003
NM_004415.4(DSP):c.598-4G>A rs747448946 0.00003
NM_004415.4(DSP):c.6054C>T (p.Ile2018=) rs369700204 0.00003
NM_004415.4(DSP):c.6240C>T (p.Phe2080=) rs757650857 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.7035A>G (p.Gly2345=) rs780379988 0.00003
NM_004415.4(DSP):c.7116C>T (p.Ile2372=) rs185213858 0.00003
NM_004415.4(DSP):c.7551G>A (p.Val2517=) rs754127386 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.783G>A (p.Ala261=) rs764596108 0.00003
NM_004415.4(DSP):c.789T>C (p.Phe263=) rs1354363918 0.00003
NM_004415.4(DSP):c.8259G>A (p.Lys2753=) rs1005570207 0.00003
NM_004415.4(DSP):c.8433G>A (p.Lys2811=) rs753011095 0.00003
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.2046C>T (p.Cys682=) rs771674559 0.00002
NM_004415.4(DSP):c.2364A>G (p.Glu788=) rs1397865751 0.00002
NM_004415.4(DSP):c.2469G>A (p.Ser823=) rs368945617 0.00002
NM_004415.4(DSP):c.2898C>T (p.Ala966=) rs754665672 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.3408G>A (p.Lys1136=) rs1221361788 0.00002
NM_004415.4(DSP):c.3877A>G (p.Ile1293Val) rs376555665 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.4767C>T (p.Cys1589=) rs763203149 0.00002
NM_004415.4(DSP):c.4808G>A (p.Arg1603Lys) rs869025393 0.00002
NM_004415.4(DSP):c.4886G>T (p.Ser1629Ile) rs200243976 0.00002
NM_004415.4(DSP):c.5154G>A (p.Leu1718=) rs376620183 0.00002
NM_004415.4(DSP):c.5880C>T (p.Thr1960=) rs375883982 0.00002
NM_004415.4(DSP):c.5913G>T (p.Leu1971=) rs373416071 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.6690G>A (p.Pro2230=) rs145751089 0.00002
NM_004415.4(DSP):c.6762C>T (p.Leu2254=) rs138683913 0.00002
NM_004415.4(DSP):c.7014G>C (p.Gly2338=) rs1054965369 0.00002
NM_004415.4(DSP):c.7197G>A (p.Glu2399=) rs372594837 0.00002
NM_004415.4(DSP):c.7215C>T (p.Leu2405=) rs191226040 0.00002
NM_004415.4(DSP):c.7575C>T (p.Gly2525=) rs780156504 0.00002
NM_004415.4(DSP):c.7836C>T (p.Thr2612=) rs762381028 0.00002
NM_004415.4(DSP):c.7847C>T (p.Ser2616Leu) rs571577908 0.00002
NM_004415.4(DSP):c.7883T>C (p.Leu2628Pro) rs147484870 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.8511T>C (p.Ser2837=) rs757475874 0.00002
NM_004415.4(DSP):c.108C>T (p.Gly36=) rs755510597 0.00001
NM_004415.4(DSP):c.111C>T (p.Thr37=) rs727502995 0.00001
NM_004415.4(DSP):c.1161T>A (p.Ser387=) rs1758909456 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.1449C>T (p.Ile483=) rs1758959651 0.00001
NM_004415.4(DSP):c.1464C>T (p.Asn488=) rs768526275 0.00001
NM_004415.4(DSP):c.1482C>T (p.Tyr494=) rs772925425 0.00001
NM_004415.4(DSP):c.1506C>T (p.Asp502=) rs1758966083 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.1590C>T (p.Tyr530=) rs769196176 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.1737G>A (p.Thr579=) rs150734502 0.00001
NM_004415.4(DSP):c.1809T>C (p.Asp603=) rs1358103461 0.00001
NM_004415.4(DSP):c.1812C>T (p.Asp604=) rs1428325875 0.00001
NM_004415.4(DSP):c.1824A>G (p.Ile608Met) rs776461292 0.00001
NM_004415.4(DSP):c.1857C>T (p.Tyr619=) rs1554107097 0.00001
NM_004415.4(DSP):c.1864C>T (p.Leu622=) rs200790278 0.00001
NM_004415.4(DSP):c.1904-4A>G rs1040751456 0.00001
NM_004415.4(DSP):c.192G>A (p.Arg64=) rs908789038 0.00001
NM_004415.4(DSP):c.1973A>G (p.Asn658Ser) rs749183448 0.00001
NM_004415.4(DSP):c.2075C>T (p.Pro692Leu) rs1561690890 0.00001
NM_004415.4(DSP):c.2196C>T (p.Asn732=) rs1424884336 0.00001
NM_004415.4(DSP):c.21C>T (p.Ser7=) rs750532252 0.00001
NM_004415.4(DSP):c.2265T>C (p.Asn755=) rs770798708 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.2472G>A (p.Leu824=) rs763798166 0.00001
NM_004415.4(DSP):c.2658G>A (p.Lys886=) rs201404613 0.00001
NM_004415.4(DSP):c.2666G>A (p.Arg889Lys) rs762341335 0.00001
NM_004415.4(DSP):c.2995G>A (p.Val999Ile) rs1261418744 0.00001
NM_004415.4(DSP):c.3141C>T (p.Ala1047=) rs1421186832 0.00001
NM_004415.4(DSP):c.3162G>A (p.Lys1054=) rs531491529 0.00001
NM_004415.4(DSP):c.3222G>A (p.Ala1074=) rs772040899 0.00001
NM_004415.4(DSP):c.3262C>T (p.Leu1088=) rs2533922793 0.00001
NM_004415.4(DSP):c.327G>A (p.Glu109=) rs750816128 0.00001
NM_004415.4(DSP):c.3325G>A (p.Glu1109Lys) rs367763339 0.00001
NM_004415.4(DSP):c.3333C>A (p.Ile1111=) rs1759349079 0.00001
NM_004415.4(DSP):c.3338G>A (p.Arg1113Gln) rs768455823 0.00001
NM_004415.4(DSP):c.3339A>T (p.Arg1113=) rs142413512 0.00001
NM_004415.4(DSP):c.3396T>C (p.Phe1132=) rs41302881 0.00001
NM_004415.4(DSP):c.3402A>G (p.Gln1134=) rs1759351935 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.378A>G (p.Arg126=) rs1758561693 0.00001
NM_004415.4(DSP):c.3819C>T (p.Asn1273=) rs1390665527 0.00001
NM_004415.4(DSP):c.3843C>T (p.Gly1281=) rs757848395 0.00001
NM_004415.4(DSP):c.3864G>A (p.Lys1288=) rs768166626 0.00001
NM_004415.4(DSP):c.3870T>C (p.His1290=) rs749737978 0.00001
NM_004415.4(DSP):c.4061A>G (p.Asn1354Ser) rs746333083 0.00001
NM_004415.4(DSP):c.4173C>T (p.Tyr1391=) rs75537269 0.00001
NM_004415.4(DSP):c.4242C>T (p.Asn1414=) rs375941706 0.00001
NM_004415.4(DSP):c.4386C>T (p.Ser1462=) rs149981214 0.00001
NM_004415.4(DSP):c.4419C>T (p.Ala1473=) rs727504542 0.00001
NM_004415.4(DSP):c.441G>A (p.Glu147=) rs776076628 0.00001
NM_004415.4(DSP):c.4494A>G (p.Lys1498=) rs1182511839 0.00001
NM_004415.4(DSP):c.4509A>G (p.Glu1503=) rs1350066172 0.00001
NM_004415.4(DSP):c.4512C>T (p.Asn1504=) rs140993677 0.00001
NM_004415.4(DSP):c.4526G>A (p.Arg1509Lys) rs577061462 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.4671G>A (p.Thr1557=) rs367767551 0.00001
NM_004415.4(DSP):c.4698G>A (p.Leu1566=) rs751608838 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.4812G>A (p.Ser1604=) rs778729982 0.00001
NM_004415.4(DSP):c.4836C>T (p.Ile1612=) rs886039056 0.00001
NM_004415.4(DSP):c.4881G>A (p.Lys1627=) rs746035936 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.5151C>T (p.His1717=) rs762841263 0.00001
NM_004415.4(DSP):c.5181G>A (p.Leu1727=) rs1172441662 0.00001
NM_004415.4(DSP):c.5217C>T (p.Ser1739=) rs748263306 0.00001
NM_004415.4(DSP):c.5222C>T (p.Ala1741Val) rs749124581 0.00001
NM_004415.4(DSP):c.5283C>T (p.Asn1761=) rs763355815 0.00001
NM_004415.4(DSP):c.5361C>T (p.Phe1787=) rs1184201721 0.00001
NM_004415.4(DSP):c.5391G>A (p.Arg1797=) rs778745098 0.00001
NM_004415.4(DSP):c.5412G>T (p.Gln1804His) rs779809935 0.00001
NM_004415.4(DSP):c.5550A>G (p.Lys1850=) rs1759482564 0.00001
NM_004415.4(DSP):c.5631T>C (p.Ala1877=) rs1231651139 0.00001
NM_004415.4(DSP):c.5649G>A (p.Ser1883=) rs760974941 0.00001
NM_004415.4(DSP):c.5798C>G (p.Ser1933Cys) rs558069434 0.00001
NM_004415.4(DSP):c.5881G>A (p.Val1961Ile) rs368869076 0.00001
NM_004415.4(DSP):c.5958C>T (p.Ile1986=) rs577625038 0.00001
NM_004415.4(DSP):c.598-5C>T rs765653540 0.00001
NM_004415.4(DSP):c.6038G>A (p.Arg2013Gln) rs557263443 0.00001
NM_004415.4(DSP):c.603G>A (p.Glu201=) rs770080985 0.00001
NM_004415.4(DSP):c.6045A>G (p.Ala2015=) rs749554720 0.00001
NM_004415.4(DSP):c.6068C>G (p.Ala2023Gly) rs761605754 0.00001
NM_004415.4(DSP):c.6072T>C (p.Ser2024=) rs945649827 0.00001
NM_004415.4(DSP):c.6378A>G (p.Glu2126=) rs1348311352 0.00001
NM_004415.4(DSP):c.6402A>G (p.Val2134=) rs1759531388 0.00001
NM_004415.4(DSP):c.6453G>A (p.Arg2151=) rs1472492843 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.657C>T (p.Asn219=) rs1291699719 0.00001
NM_004415.4(DSP):c.6585T>C (p.His2195=) rs1759541694 0.00001
NM_004415.4(DSP):c.6669A>T (p.Val2223=) rs1759544387 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.6852A>G (p.Arg2284=) rs141148057 0.00001
NM_004415.4(DSP):c.6874C>T (p.Leu2292=) rs779573036 0.00001
NM_004415.4(DSP):c.6897C>G (p.Gly2299=) rs1459176618 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.7017T>C (p.Tyr2339=) rs753946358 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.7413A>G (p.Pro2471=) rs772161814 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.7644A>T (p.Arg2548=) rs886039159 0.00001
NM_004415.4(DSP):c.7647C>T (p.Ser2549=) rs765385403 0.00001
NM_004415.4(DSP):c.7650C>T (p.Gly2550=) rs780277298 0.00001
NM_004415.4(DSP):c.765T>C (p.Tyr255=) rs762541786 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.7706C>T (p.Thr2569Ile) rs770464104 0.00001
NM_004415.4(DSP):c.7767A>G (p.Ser2589=) rs755928079 0.00001
NM_004415.4(DSP):c.7923C>T (p.Ile2641=) rs773906008 0.00001
NM_004415.4(DSP):c.7962G>A (p.Gln2654=) rs767539050 0.00001
NM_004415.4(DSP):c.8034T>C (p.Gly2678=) rs1274651422 0.00001
NM_004415.4(DSP):c.8109A>G (p.Gly2703=) rs78736738 0.00001
NM_004415.4(DSP):c.8136A>T (p.Ala2712=) rs1759620884 0.00001
NM_004415.4(DSP):c.8169C>T (p.Gly2723=) rs1259495339 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.8310T>C (p.Tyr2770=) rs750982524 0.00001
NM_004415.4(DSP):c.8382A>G (p.Val2794=) rs1025921677 0.00001
NM_004415.4(DSP):c.8389A>G (p.Ile2797Val) rs1040353645 0.00001
NM_004415.4(DSP):c.8394T>A (p.Thr2798=) rs775346694 0.00001
NM_004415.4(DSP):c.8484C>G (p.Gly2828=) rs1467235605 0.00001
NM_004415.4(DSP):c.8496A>C (p.Gly2832=) rs760011967 0.00001
NM_004415.4(DSP):c.8508A>G (p.Gly2836=) rs754074127 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.8610G>A (p.Gly2870=) rs910215418 0.00001
NM_004415.4(DSP):c.9C>T (p.Cys3=) rs769032973 0.00001
NM_004415.4(DSP):c.1047C>T (p.Ala349=) rs1758892420
NM_004415.4(DSP):c.1104T>A (p.Ile368=) rs2533879967
NM_004415.4(DSP):c.1113T>C (p.His371=)
NM_004415.4(DSP):c.1287T>A (p.Leu429=) rs776059069
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.1356C>T (p.Asn452=) rs1187261274
NM_004415.4(DSP):c.1380C>T (p.Pro460=) rs1451086273
NM_004415.4(DSP):c.1425C>T (p.Ile475=) rs1329910838
NM_004415.4(DSP):c.1431T>C (p.His477=) rs1554106904
NM_004415.4(DSP):c.1467G>A (p.Glu489=)
NM_004415.4(DSP):c.1500C>T (p.Gly500=) rs762086998
NM_004415.4(DSP):c.1527G>T (p.Gly509=) rs397516917
NM_004415.4(DSP):c.157T>G (p.Ser53Ala) rs397516918
NM_004415.4(DSP):c.1593A>G (p.Glu531=) rs1287814184
NM_004415.4(DSP):c.159G>A (p.Ser53=) rs1275954013
NM_004415.4(DSP):c.1665T>C (p.Ile555=) rs1321775745
NM_004415.4(DSP):c.1680C>T (p.Ile560=) rs397516920
NM_004415.4(DSP):c.1698C>G (p.Ala566=) rs2533890746
NM_004415.4(DSP):c.1707A>G (p.Lys569=) rs1759045455
NM_004415.4(DSP):c.1743C>A (p.Ala581=) rs139095230
NM_004415.4(DSP):c.1806T>C (p.Asp602=) rs560969680
NM_004415.4(DSP):c.1851G>A (p.Lys617=) rs1759052144
NM_004415.4(DSP):c.1908C>T (p.Thr636=) rs2533896117
NM_004415.4(DSP):c.1938C>T (p.Cys646=) rs1759064440
NM_004415.4(DSP):c.2016G>A (p.Leu672=) rs1282905209
NM_004415.4(DSP):c.2019G>A (p.Gln673=) rs2533896810
NM_004415.4(DSP):c.2109A>G (p.Thr703=) rs1351265258
NM_004415.4(DSP):c.2184T>C (p.Asp728=) rs750383681
NM_004415.4(DSP):c.2247A>C (p.Leu749=) rs28763963
NM_004415.4(DSP):c.2343A>G (p.Glu781=) rs1291942350
NM_004415.4(DSP):c.2361T>C (p.Tyr787=) rs751593871
NM_004415.4(DSP):c.2403G>A (p.Leu801=) rs1759182985
NM_004415.4(DSP):c.2403G>T (p.Leu801=) rs1759182985
NM_004415.4(DSP):c.2421C>T (p.Tyr807=) rs2113684259
NM_004415.4(DSP):c.243C>T (p.Cys81=) rs947998304
NM_004415.4(DSP):c.255A>T (p.Ala85=) rs2533842516
NM_004415.4(DSP):c.2688G>A (p.Gln896=) rs1195740147
NM_004415.4(DSP):c.2691T>G (p.Ala897=) rs1179726063
NM_004415.4(DSP):c.277T>C (p.Leu93=) rs1561680562
NM_004415.4(DSP):c.2799G>A (p.Leu933=) rs372922674
NM_004415.4(DSP):c.2904C>T (p.Tyr968=) rs1241595798
NM_004415.4(DSP):c.2994T>C (p.Asp998=)
NM_004415.4(DSP):c.3006G>A (p.Arg1002=) rs1759317112
NM_004415.4(DSP):c.300A>G (p.Gln100=) rs749048839
NM_004415.4(DSP):c.3018A>G (p.Leu1006=) rs375412541
NM_004415.4(DSP):c.3048C>T (p.Phe1016=) rs1299556752
NM_004415.4(DSP):c.3156T>C (p.Cys1052=)
NM_004415.4(DSP):c.3201A>G (p.Ala1067=)
NM_004415.4(DSP):c.3222G>T (p.Ala1074=)
NM_004415.4(DSP):c.3231G>C (p.Ala1077=) rs368214030
NM_004415.4(DSP):c.3261G>A (p.Glu1087=) rs1045685133
NM_004415.4(DSP):c.3264G>A (p.Leu1088=)
NM_004415.4(DSP):c.3276G>C (p.Ser1092=) rs202057409
NM_004415.4(DSP):c.3297G>A (p.Lys1099=)
NM_004415.4(DSP):c.329G>A (p.Cys110Tyr) rs2533849177
NM_004415.4(DSP):c.3393A>G (p.Arg1131=) rs753254231
NM_004415.4(DSP):c.3495G>A (p.Lys1165=)
NM_004415.4(DSP):c.3519G>A (p.Arg1173=) rs2113691963
NM_004415.4(DSP):c.3531A>G (p.Leu1177=) rs2533924200
NM_004415.4(DSP):c.3532C>T (p.Leu1178=) rs1481963016
NM_004415.4(DSP):c.3636A>G (p.Thr1212=) rs2533924981
NM_004415.4(DSP):c.3648T>C (p.Ile1216=)
NM_004415.4(DSP):c.3651G>C (p.Thr1217=)
NM_004415.4(DSP):c.3696C>G (p.Ser1232=) rs141120358
NM_004415.4(DSP):c.3981C>A (p.Ile1327=) rs397516934
NM_004415.4(DSP):c.3996T>A (p.Ala1332=) rs1759378308
NM_004415.4(DSP):c.402C>T (p.Pro134=) rs373685989
NM_004415.4(DSP):c.4140C>T (p.Leu1380=) rs1759385261
NM_004415.4(DSP):c.4209G>A (p.Arg1403=) rs1561698567
NM_004415.4(DSP):c.420A>G (p.Lys140=) rs2533849777
NM_004415.4(DSP):c.4236G>A (p.Leu1412=) rs2533927916
NM_004415.4(DSP):c.4239G>A (p.Lys1413=) rs1581817246
NM_004415.4(DSP):c.4251C>A (p.Thr1417=) rs1447070500
NM_004415.4(DSP):c.4272G>A (p.Arg1424=)
NM_004415.4(DSP):c.4305C>G (p.Ala1435=) rs2533928178
NM_004415.4(DSP):c.4311C>T (p.Gly1437=) rs781353867
NM_004415.4(DSP):c.4318G>A (p.Val1440Met)
NM_004415.4(DSP):c.438A>G (p.Gln146=) rs2113659595
NM_004415.4(DSP):c.4491G>C (p.Arg1497=) rs1339752185
NM_004415.4(DSP):c.4497C>T (p.Cys1499=) rs892155521
NM_004415.4(DSP):c.4515G>A (p.Ala1505=) rs193197554
NM_004415.4(DSP):c.4515G>C (p.Ala1505=) rs193197554
NM_004415.4(DSP):c.4647G>A (p.Arg1549=)
NM_004415.4(DSP):c.4686T>C (p.Ser1562=) rs898212782
NM_004415.4(DSP):c.4750G>T (p.Ala1584Ser) rs191778417
NM_004415.4(DSP):c.4770G>A (p.Lys1590=) rs2533930251
NM_004415.4(DSP):c.492C>T (p.Ala164=) rs2113659755
NM_004415.4(DSP):c.4973C>T (p.Ser1658Phe) rs202084959
NM_004415.4(DSP):c.5028A>G (p.Lys1676=) rs2533931364
NM_004415.4(DSP):c.5049G>A (p.Glu1683=)
NM_004415.4(DSP):c.5064G>A (p.Ala1688=) rs886061747
NM_004415.4(DSP):c.5223G>C (p.Ala1741=) rs201984474
NM_004415.4(DSP):c.5250G>A (p.Leu1750=) rs2533932272
NM_004415.4(DSP):c.5286G>A (p.Arg1762=) rs928352790
NM_004415.4(DSP):c.5304G>A (p.Gly1768=) rs530612211
NM_004415.4(DSP):c.5305C>T (p.Leu1769=) rs946445410
NM_004415.4(DSP):c.5313T>C (p.Asn1771=) rs757107485
NM_004415.4(DSP):c.531C>T (p.Gly177=) rs138865799
NM_004415.4(DSP):c.5382A>G (p.Ala1794=) rs1355346786
NM_004415.4(DSP):c.5430G>A (p.Gln1810=) rs1424619860
NM_004415.4(DSP):c.5448G>C (p.Leu1816=) rs1270969886
NM_004415.4(DSP):c.5481A>G (p.Ala1827=) rs2533936110
NM_004415.4(DSP):c.5499G>A (p.Glu1833=) rs775969808
NM_004415.4(DSP):c.5532G>A (p.Glu1844=) rs2113698068
NM_004415.4(DSP):c.5553G>A (p.Gln1851=) rs1259972571
NM_004415.4(DSP):c.5562G>A (p.Glu1854=) rs2533936436
NM_004415.4(DSP):c.5649G>T (p.Ser1883=) rs760974941
NM_004415.4(DSP):c.5733G>A (p.Glu1911=) rs1439469699
NM_004415.4(DSP):c.5736G>A (p.Arg1912=) rs371873840
NM_004415.4(DSP):c.5748G>A (p.Lys1916=) rs2533937407
NM_004415.4(DSP):c.5802A>G (p.Arg1934=) rs1759497850
NM_004415.4(DSP):c.5808G>A (p.Gln1936=) rs769981060
NM_004415.4(DSP):c.5811G>A (p.Arg1937=)
NM_004415.4(DSP):c.5838A>G (p.Pro1946=) rs369822839
NM_004415.4(DSP):c.5859C>T (p.Thr1953=) rs752518537
NM_004415.4(DSP):c.6201G>A (p.Leu2067=) rs2533939874
NM_004415.4(DSP):c.6204T>C (p.Thr2068=) rs1250614798
NM_004415.4(DSP):c.627G>A (p.Val209=) rs996098764
NM_004415.4(DSP):c.6297A>G (p.Pro2099=) rs1759525136
NM_004415.4(DSP):c.6354A>G (p.Arg2118=)
NM_004415.4(DSP):c.6369C>A (p.Arg2123=) rs1759529652
NM_004415.4(DSP):c.6370C>T (p.Leu2124=) rs2533940739
NM_004415.4(DSP):c.6396G>A (p.Gly2132=) rs2533940918
NM_004415.4(DSP):c.6399T>A (p.Gly2133=)
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.6459G>A (p.Leu2153=) rs1409344723
NM_004415.4(DSP):c.6526G>A (p.Val2176Ile) rs746533703
NM_004415.4(DSP):c.6564A>G (p.Glu2188=) rs759929036
NM_004415.4(DSP):c.6579A>G (p.Glu2193=)
NM_004415.4(DSP):c.6648T>C (p.Pro2216=)
NM_004415.4(DSP):c.6657C>T (p.Val2219=) rs2533942333
NM_004415.4(DSP):c.6658A>T (p.Thr2220Ser)
NM_004415.4(DSP):c.6666A>G (p.Leu2222=)
NM_004415.4(DSP):c.6669A>C (p.Val2223=)
NM_004415.4(DSP):c.6672T>C (p.Asp2224=)
NM_004415.4(DSP):c.6701A>G (p.Asn2234Ser)
NM_004415.4(DSP):c.6708G>A (p.Leu2236=) rs1432989022
NM_004415.4(DSP):c.6711A>G (p.Glu2237=)
NM_004415.4(DSP):c.6714T>G (p.Ser2238=)
NM_004415.4(DSP):c.6718C>A (p.Gln2240Lys) rs374262024
NM_004415.4(DSP):c.6873G>A (p.Leu2291=) rs2533943009
NM_004415.4(DSP):c.6945C>A (p.Ala2315=) rs761888068
NM_004415.4(DSP):c.6960G>A (p.Leu2320=) rs1759553853
NM_004415.4(DSP):c.6993T>C (p.Ser2331=) rs767282172
NM_004415.4(DSP):c.6C>T (p.Ser2=) rs776052488
NM_004415.4(DSP):c.7119A>C (p.Ala2373=) rs2533944019
NM_004415.4(DSP):c.7257C>T (p.Asn2419=) rs1759564215
NM_004415.4(DSP):c.7269T>C (p.Asn2423=) rs1759564582
NM_004415.4(DSP):c.7272T>C (p.Leu2424=) rs1581823733
NM_004415.4(DSP):c.7335T>A (p.Pro2445=) rs1262869578
NM_004415.4(DSP):c.7350G>C (p.Lys2450Asn) rs1561703628
NM_004415.4(DSP):c.7500A>G (p.Glu2500=) rs1554109015
NM_004415.4(DSP):c.7581G>A (p.Gln2527=) rs879254350
NM_004415.4(DSP):c.7617T>G (p.Val2539=)
NM_004415.4(DSP):c.7650C>G (p.Gly2550=) rs780277298
NM_004415.4(DSP):c.774G>C (p.Leu258=) rs753228677
NM_004415.4(DSP):c.7795G>A (p.Val2599Ile) rs1759594471
NM_004415.4(DSP):c.7851C>T (p.Ser2617=) rs1468682231
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=) rs745523152
NM_004415.4(DSP):c.7923C>A (p.Ile2641=) rs773906008
NM_004415.4(DSP):c.8106G>A (p.Lys2702=) rs2533949560
NM_004415.4(DSP):c.8111AGA[2] (p.Lys2706del) rs397516962
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.8163G>A (p.Glu2721=) rs780384342
NM_004415.4(DSP):c.8178C>T (p.Phe2726=) rs901698792
NM_004415.4(DSP):c.8187C>T (p.Phe2729=) rs369619485
NM_004415.4(DSP):c.8199G>A (p.Thr2733=) rs145085696
NM_004415.4(DSP):c.8199G>T (p.Thr2733=) rs145085696
NM_004415.4(DSP):c.81C>A (p.Arg27=) rs773559423
NM_004415.4(DSP):c.8232G>A (p.Arg2744=) rs780253169
NM_004415.4(DSP):c.8262G>T (p.Gly2754=) rs187226788
NM_004415.4(DSP):c.8300C>T (p.Thr2767Ile) rs34884895
NM_004415.4(DSP):c.8322G>C (p.Leu2774=) rs1455098095
NM_004415.4(DSP):c.8334A>G (p.Lys2778=)
NM_004415.4(DSP):c.8352C>G (p.Ser2784=) rs2533951204
NM_004415.4(DSP):c.8421C>T (p.Ser2807=) rs752007344
NM_004415.4(DSP):c.8445C>T (p.Ser2815=) rs1228176948
NM_004415.4(DSP):c.8454C>T (p.Asn2818=) rs778015932
NM_004415.4(DSP):c.8466T>C (p.Ala2822=) rs978142706
NM_004415.4(DSP):c.8472_8483del (p.2827_2830SGSR[4]) rs397516967
NM_004415.4(DSP):c.8481C>G (p.Ser2827=) rs151029175
NM_004415.4(DSP):c.8481_8492del (p.2827_2830SGSR[4]) rs397516968
NM_004415.4(DSP):c.8487_8498del (p.2827_2830SGSR[4]) rs727504704
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.8496ATCTCGCTCCGG[1] (p.2827SGSR[4]) rs397516971
NM_004415.4(DSP):c.84C>T (p.Tyr28=) rs2533800954
NM_004415.4(DSP):c.8505C>G (p.Ser2835=) rs1381413030
NM_004415.4(DSP):c.8515_8517delinsAGT (p.Ser2839=) rs1554109285
NM_004415.4(DSP):c.8529_8540del (p.2827_2830SGSR[4]) rs794728151
NM_004415.4(DSP):c.8556C>T (p.Ala2852=) rs1163538965
NM_004415.4(DSP):c.8568T>C (p.Ser2856=) rs1400965546
NM_004415.4(DSP):c.945C>T (p.Arg315=) rs2533876128
NM_004415.4(DSP):c.978C>A (p.Leu326=) rs2533876287

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