ClinVar Miner

List of variants in gene DSP reported as likely benign for Cardiomyopathy

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Gene type:
ClinVar version:
Total variants: 579
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HGVS dbSNP gnomAD frequency
NM_004415.4(DSP):c.273+10C>T rs56148603 0.02451
NM_004415.4(DSP):c.2815G>A (p.Gly939Ser) rs80325569 0.01244
NM_004415.4(DSP):c.3510G>A (p.Glu1170=) rs28763964 0.01023
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.1488G>A (p.Thr496=) rs35820473 0.00195
NM_004415.4(DSP):c.1206G>A (p.Lys402=) rs150422458 0.00185
NM_004415.4(DSP):c.2773C>T (p.Arg925Trp) rs145933612 0.00143
NM_004415.4(DSP):c.6678T>A (p.Gly2226=) rs149070106 0.00139
NM_004415.4(DSP):c.4372C>G (p.Arg1458Gly) rs28763965 0.00131
NM_004415.4(DSP):c.2346C>T (p.Asp782=) rs139071827 0.00126
NM_004415.4(DSP):c.2986-6T>A rs144748036 0.00108
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.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.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.1574+7C>T rs375717504 0.00030
NM_004415.4(DSP):c.5991G>A (p.Gly1997=) rs538244495 0.00029
NM_004415.4(DSP):c.1154C>T (p.Ala385Val) rs146737031 0.00027
NM_004415.4(DSP):c.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.6381C>T (p.Ala2127=) rs146315412 0.00024
NM_004415.4(DSP):c.2794-4dup rs397516924 0.00023
NM_004415.4(DSP):c.2422C>T (p.Arg808Cys) rs150339369 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.6351T>C (p.Asp2117=) rs148743859 0.00019
NM_004415.4(DSP):c.8415C>T (p.Ala2805=) rs377148997 0.00019
NM_004415.4(DSP):c.269A>G (p.Gln90Arg) rs188516326 0.00018
NM_004415.4(DSP):c.2121C>T (p.Asn707=) rs368590198 0.00017
NM_004415.4(DSP):c.3153C>T (p.Asn1051=) rs563387839 0.00017
NM_004415.4(DSP):c.1949A>G (p.Asn650Ser) rs145650440 0.00016
NM_004415.4(DSP):c.2468C>T (p.Ser823Leu) rs141834182 0.00016
NM_004415.4(DSP):c.3706A>G (p.Arg1236Gly) rs377098318 0.00016
NM_004415.4(DSP):c.4775A>G (p.Lys1592Arg) rs200421954 0.00016
NM_004415.4(DSP):c.7599T>C (p.Ala2533=) rs374266378 0.00016
NM_004415.4(DSP):c.1534A>G (p.Ile512Val) rs202025438 0.00014
NM_004415.4(DSP):c.6192T>C (p.Asn2064=) rs371230455 0.00014
NM_004415.4(DSP):c.1575-15C>G rs369184165 0.00013
NM_004415.4(DSP):c.2774G>A (p.Arg925Gln) rs139799237 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.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.6360C>T (p.Thr2120=) rs374252141 0.00011
NM_004415.4(DSP):c.6799A>T (p.Thr2267Ser) rs181378432 0.00011
NM_004415.4(DSP):c.687C>T (p.Gly229=) rs112877191 0.00011
NM_004415.4(DSP):c.816G>A (p.Leu272=) rs376184294 0.00011
NM_004415.4(DSP):c.8173C>T (p.Arg2725Cys) rs141078292 0.00011
NM_004415.4(DSP):c.897C>T (p.Ser299=) rs121912992 0.00011
NM_004415.4(DSP):c.1140+6T>C rs534740669 0.00010
NM_004415.4(DSP):c.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.3096C>T (p.Thr1032=) rs139199849 0.00009
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.7077C>T (p.Ile2359=) rs966841386 0.00009
NM_004415.4(DSP):c.8544A>C (p.Gly2848=) rs201876903 0.00009
NM_004415.4(DSP):c.5316T>C (p.Asp1772=) rs376186141 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.3102C>T (p.Ile1034=) rs569974617 0.00007
NM_004415.4(DSP):c.4749C>T (p.Thr1583=) rs745348231 0.00007
NM_004415.4(DSP):c.4943A>G (p.Gln1648Arg) rs202232360 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.174A>G (p.Gln58=) rs140384933 0.00006
NM_004415.4(DSP):c.183G>A (p.Thr61=) rs150383703 0.00006
NM_004415.4(DSP):c.3338G>A (p.Arg1113Gln) rs768455823 0.00006
NM_004415.4(DSP):c.4320G>A (p.Val1440=) rs571103583 0.00006
NM_004415.4(DSP):c.4914C>T (p.Asp1638=) rs750113099 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.783G>A (p.Ala261=) rs764596108 0.00006
NM_004415.4(DSP):c.915C>T (p.Ile305=) rs148395326 0.00006
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.4401A>G (p.Gln1467=) rs199818953 0.00005
NM_004415.4(DSP):c.5555G>A (p.Arg1852His) rs193922669 0.00005
NM_004415.4(DSP):c.727-10T>G rs375327581 0.00005
NM_004415.4(DSP):c.1005A>G (p.Gln335=) rs200961741 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.2317C>T (p.Leu773=) rs767433534 0.00004
NM_004415.4(DSP):c.2360A>G (p.Tyr787Cys) rs778350289 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.2796C>T (p.Asn932=) rs368981849 0.00004
NM_004415.4(DSP):c.2866A>T (p.Asn956Tyr) rs397516928 0.00004
NM_004415.4(DSP):c.4752G>A (p.Ala1584=) rs201213622 0.00004
NM_004415.4(DSP):c.5554C>T (p.Arg1852Cys) rs550818559 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.7035A>G (p.Gly2345=) rs780379988 0.00004
NM_004415.4(DSP):c.7128G>T (p.Gly2376=) rs756684406 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.939C>T (p.Ser313=) rs766580649 0.00004
NM_004415.4(DSP):c.1045-8T>C rs201633815 0.00003
NM_004415.4(DSP):c.1557C>T (p.Ala519=) rs769629611 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.21C>T (p.Ser7=) rs750532252 0.00003
NM_004415.4(DSP):c.2310A>C (p.Val770=) rs762909119 0.00003
NM_004415.4(DSP):c.2722C>T (p.Arg908Cys) rs376932045 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.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.4005G>A (p.Gln1335=) rs775720924 0.00003
NM_004415.4(DSP):c.4032T>C (p.Tyr1344=) rs1422876320 0.00003
NM_004415.4(DSP):c.4041A>G (p.Glu1347=) rs200671552 0.00003
NM_004415.4(DSP):c.4077C>T (p.Ile1359=) rs747249306 0.00003
NM_004415.4(DSP):c.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.5154G>A (p.Leu1718=) rs376620183 0.00003
NM_004415.4(DSP):c.5223G>A (p.Ala1741=) rs201984474 0.00003
NM_004415.4(DSP):c.6496C>A (p.Arg2166=) rs141026028 0.00003
NM_004415.4(DSP):c.7014G>C (p.Gly2338=) rs1054965369 0.00003
NM_004415.4(DSP):c.789T>C (p.Phe263=) rs1354363918 0.00003
NM_004415.4(DSP):c.837G>A (p.Thr279=) rs368051840 0.00003
NM_004415.4(DSP):c.8433G>A (p.Lys2811=) rs753011095 0.00003
NM_004415.4(DSP):c.1068G>A (p.Thr356=) rs766094745 0.00002
NM_004415.4(DSP):c.1149A>G (p.Glu383=) rs572980966 0.00002
NM_004415.4(DSP):c.1191C>T (p.Asp397=) rs1046392713 0.00002
NM_004415.4(DSP):c.1215C>T (p.Cys405=) rs377500825 0.00002
NM_004415.4(DSP):c.1677G>A (p.Lys559=) rs143356115 0.00002
NM_004415.4(DSP):c.1903+4G>A rs757726608 0.00002
NM_004415.4(DSP):c.2364A>G (p.Glu788=) rs1397865751 0.00002
NM_004415.4(DSP):c.2568C>T (p.Phe856=) rs746036365 0.00002
NM_004415.4(DSP):c.274-4T>G rs755025350 0.00002
NM_004415.4(DSP):c.3147G>A (p.Ser1049=) rs756341143 0.00002
NM_004415.4(DSP):c.3243G>A (p.Glu1081=) rs761399419 0.00002
NM_004415.4(DSP):c.3282G>A (p.Lys1094=) rs2491080 0.00002
NM_004415.4(DSP):c.3303C>T (p.Tyr1101=) rs372440854 0.00002
NM_004415.4(DSP):c.3729A>G (p.Ser1243=) rs150241609 0.00002
NM_004415.4(DSP):c.3753T>C (p.Asp1251=) rs749003139 0.00002
NM_004415.4(DSP):c.3954G>A (p.Lys1318=) rs866656949 0.00002
NM_004415.4(DSP):c.4767C>T (p.Cys1589=) rs763203149 0.00002
NM_004415.4(DSP):c.4886G>T (p.Ser1629Ile) rs200243976 0.00002
NM_004415.4(DSP):c.5193C>T (p.Tyr1731=) rs201663619 0.00002
NM_004415.4(DSP):c.5610A>G (p.Gln1870=) rs777420903 0.00002
NM_004415.4(DSP):c.5913G>T (p.Leu1971=) rs373416071 0.00002
NM_004415.4(DSP):c.6054C>T (p.Ile2018=) rs369700204 0.00002
NM_004415.4(DSP):c.6516T>C (p.Phe2172=) rs1266595950 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.6732C>T (p.Asp2244=) rs764124433 0.00002
NM_004415.4(DSP):c.7116C>T (p.Ile2372=) rs185213858 0.00002
NM_004415.4(DSP):c.7185C>T (p.Gly2395=) rs1296848321 0.00002
NM_004415.4(DSP):c.7197G>A (p.Glu2399=) rs372594837 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.7883T>C (p.Leu2628Pro) rs147484870 0.00002
NM_004415.4(DSP):c.8256G>A (p.Arg2752=) rs1313648350 0.00002
NM_004415.4(DSP):c.8394T>A (p.Thr2798=) rs775346694 0.00002
NM_004415.4(DSP):c.1065G>A (p.Gln355=) rs750289780 0.00001
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.1266+5C>T rs1052624321 0.00001
NM_004415.4(DSP):c.1452G>A (p.Leu484=) rs1413578599 0.00001
NM_004415.4(DSP):c.1482C>T (p.Tyr494=) rs772925425 0.00001
NM_004415.4(DSP):c.1545G>A (p.Pro515=) rs747953037 0.00001
NM_004415.4(DSP):c.1562A>C (p.Asp521Ala) rs748790273 0.00001
NM_004415.4(DSP):c.1575-7C>T rs1203683996 0.00001
NM_004415.4(DSP):c.1590C>T (p.Tyr530=) rs769196176 0.00001
NM_004415.4(DSP):c.165C>T (p.Gly55=) rs1041730733 0.00001
NM_004415.4(DSP):c.171-4T>C rs1554105598 0.00001
NM_004415.4(DSP):c.1725T>C (p.Asp575=) rs756392585 0.00001
NM_004415.4(DSP):c.1737G>A (p.Thr579=) rs150734502 0.00001
NM_004415.4(DSP):c.1812C>T (p.Asp604=) rs1428325875 0.00001
NM_004415.4(DSP):c.1821A>G (p.Lys607=) rs768675424 0.00001
NM_004415.4(DSP):c.1824A>G (p.Ile608Met) rs776461292 0.00001
NM_004415.4(DSP):c.1992A>G (p.Gln664=) rs759117503 0.00001
NM_004415.4(DSP):c.2073C>G (p.Leu691=) rs768290750 0.00001
NM_004415.4(DSP):c.2131-5G>C rs767939332 0.00001
NM_004415.4(DSP):c.2131-7T>C rs759911362 0.00001
NM_004415.4(DSP):c.2194A>G (p.Asn732Asp) rs746785505 0.00001
NM_004415.4(DSP):c.2265T>C (p.Asn755=) rs770798708 0.00001
NM_004415.4(DSP):c.2316A>T (p.Ala772=) rs754896726 0.00001
NM_004415.4(DSP):c.2502A>G (p.Lys834=) rs764842338 0.00001
NM_004415.4(DSP):c.2666G>A (p.Arg889Lys) rs762341335 0.00001
NM_004415.4(DSP):c.273+3A>G rs794728107 0.00001
NM_004415.4(DSP):c.2841A>G (p.Val947=) rs1489060030 0.00001
NM_004415.4(DSP):c.2991A>C (p.Ala997=) rs780686578 0.00001
NM_004415.4(DSP):c.3039T>C (p.Tyr1013=) rs1383881452 0.00001
NM_004415.4(DSP):c.3085-3C>T rs774460752 0.00001
NM_004415.4(DSP):c.3141C>T (p.Ala1047=) rs1421186832 0.00001
NM_004415.4(DSP):c.3216C>T (p.Phe1072=) rs774512190 0.00001
NM_004415.4(DSP):c.321G>A (p.Leu107=) rs765707433 0.00001
NM_004415.4(DSP):c.327G>A (p.Glu109=) rs750816128 0.00001
NM_004415.4(DSP):c.3333C>A (p.Ile1111=) rs1759349079 0.00001
NM_004415.4(DSP):c.3396T>C (p.Phe1132=) rs41302881 0.00001
NM_004415.4(DSP):c.3453G>A (p.Glu1151=) rs1554108084 0.00001
NM_004415.4(DSP):c.3471A>G (p.Lys1157=) rs371743739 0.00001
NM_004415.4(DSP):c.3540A>G (p.Glu1180=) rs555514197 0.00001
NM_004415.4(DSP):c.3546C>T (p.Gly1182=) rs1355395147 0.00001
NM_004415.4(DSP):c.3701A>G (p.Asn1234Ser) rs185367490 0.00001
NM_004415.4(DSP):c.3819C>T (p.Asn1273=) rs1390665527 0.00001
NM_004415.4(DSP):c.3864G>A (p.Lys1288=) rs768166626 0.00001
NM_004415.4(DSP):c.3903G>A (p.Gln1301=) rs1284991362 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.4248A>G (p.Leu1416=) rs760259046 0.00001
NM_004415.4(DSP):c.4347T>G (p.Val1449=) rs778043017 0.00001
NM_004415.4(DSP):c.4395T>C (p.Tyr1465=) rs1236464864 0.00001
NM_004415.4(DSP):c.4419C>T (p.Ala1473=) rs727504542 0.00001
NM_004415.4(DSP):c.4446G>A (p.Glu1482=) rs145213715 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.4577A>G (p.Asn1526Ser) rs1759407586 0.00001
NM_004415.4(DSP):c.4620C>T (p.Ile1540=) rs1385558717 0.00001
NM_004415.4(DSP):c.4668C>T (p.Ile1556=) rs1299604004 0.00001
NM_004415.4(DSP):c.4671G>A (p.Thr1557=) rs367767551 0.00001
NM_004415.4(DSP):c.4698G>A (p.Leu1566=) rs751608838 0.00001
NM_004415.4(DSP):c.4779G>A (p.Lys1593=) rs759646052 0.00001
NM_004415.4(DSP):c.4812G>A (p.Ser1604=) rs778729982 0.00001
NM_004415.4(DSP):c.4841A>G (p.Asn1614Ser) rs1759419529 0.00001
NM_004415.4(DSP):c.4950C>G (p.Thr1650=) rs948524246 0.00001
NM_004415.4(DSP):c.4983C>T (p.Val1661=) rs755233649 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.5217C>T (p.Ser1739=) rs748263306 0.00001
NM_004415.4(DSP):c.5244C>T (p.Thr1748=) rs759222918 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.5380-15C>A rs753028657 0.00001
NM_004415.4(DSP):c.5550A>G (p.Lys1850=) rs1759482564 0.00001
NM_004415.4(DSP):c.5589C>T (p.Asp1863=) rs751379396 0.00001
NM_004415.4(DSP):c.5593A>T (p.Asn1865Tyr) rs562015789 0.00001
NM_004415.4(DSP):c.5631T>C (p.Ala1877=) rs1231651139 0.00001
NM_004415.4(DSP):c.5649G>A (p.Ser1883=) rs760974941 0.00001
NM_004415.4(DSP):c.5749C>T (p.Leu1917=) rs936938713 0.00001
NM_004415.4(DSP):c.5838A>C (p.Pro1946=) rs369822839 0.00001
NM_004415.4(DSP):c.5859C>G (p.Thr1953=) rs752518537 0.00001
NM_004415.4(DSP):c.5880C>T (p.Thr1960=) rs375883982 0.00001
NM_004415.4(DSP):c.588G>A (p.Arg196=) rs754666224 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.6150G>A (p.Glu2050=) rs1166392485 0.00001
NM_004415.4(DSP):c.6441C>A (p.Val2147=) rs762513279 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.6699C>T (p.Val2233=) rs767835744 0.00001
NM_004415.4(DSP):c.6852A>G (p.Arg2284=) rs141148057 0.00001
NM_004415.4(DSP):c.6879A>G (p.Glu2293=) rs1327990933 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.6930A>G (p.Leu2310=) rs1759552189 0.00001
NM_004415.4(DSP):c.6939G>A (p.Glu2313=) rs1471693700 0.00001
NM_004415.4(DSP):c.7068G>A (p.Lys2356=) rs762892811 0.00001
NM_004415.4(DSP):c.7089C>T (p.His2363=) rs1001343270 0.00001
NM_004415.4(DSP):c.7102T>C (p.Leu2368=) rs1581823488 0.00001
NM_004415.4(DSP):c.720C>T (p.Ala240=) rs1324798719 0.00001
NM_004415.4(DSP):c.7215C>T (p.Leu2405=) rs191226040 0.00001
NM_004415.4(DSP):c.7383C>T (p.Leu2461=) rs771106689 0.00001
NM_004415.4(DSP):c.7413A>G (p.Pro2471=) rs772161814 0.00001
NM_004415.4(DSP):c.7470T>C (p.Tyr2490=) rs372896350 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.7551G>A (p.Val2517=) rs754127386 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.778-9C>T rs773949949 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.7986C>A (p.His2662Gln) rs753720770 0.00001
NM_004415.4(DSP):c.8094C>T (p.Phe2698=) rs1201885200 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.8508A>G (p.Gly2836=) rs754074127 0.00001
NM_004415.4(DSP):c.8511T>C (p.Ser2837=) rs757475874 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.940-5C>T rs368391882 0.00001
NM_004415.4(DSP):c.940-9C>T rs1016646349 0.00001
NM_004415.3(DSP):c.8487_8498del12 rs727504704
NM_004415.4(DSP):c.1014C>T (p.Leu338=) rs1351282651
NM_004415.4(DSP):c.102C>T (p.Gly34=) rs763785063
NM_004415.4(DSP):c.1047C>T (p.Ala349=) rs1758892420
NM_004415.4(DSP):c.1059T>A (p.Thr353=) rs1758893141
NM_004415.4(DSP):c.1141-3_1141-2del rs1758908162
NM_004415.4(DSP):c.1161T>C (p.Ser387=) rs1758909456
NM_004415.4(DSP):c.1185C>T (p.Leu395=) rs1758910335
NM_004415.4(DSP):c.1221G>A (p.Lys407=) rs1758911822
NM_004415.4(DSP):c.1230C>T (p.Pro410=) rs1003925581
NM_004415.4(DSP):c.1263G>A (p.Leu421=) rs727504492
NM_004415.4(DSP):c.1266+3_1266+4dup rs1758913922
NM_004415.4(DSP):c.1266+6G>A rs73375345
NM_004415.4(DSP):c.1267-7A>G rs1758927765
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.1329G>A (p.Lys443=) rs767785995
NM_004415.4(DSP):c.1398C>G (p.Leu466=) rs1465847887
NM_004415.4(DSP):c.141G>C (p.Val47=) rs2113629091
NM_004415.4(DSP):c.1425C>T (p.Ile475=) rs1329910838
NM_004415.4(DSP):c.142A>G (p.Ile48Val) rs1757998776
NM_004415.4(DSP):c.1464C>T (p.Asn488=) rs768526275
NM_004415.4(DSP):c.147C>G (p.Thr49=)
NM_004415.4(DSP):c.1500C>T (p.Gly500=) rs762086998
NM_004415.4(DSP):c.1518C>T (p.Pro506=)
NM_004415.4(DSP):c.157T>G (p.Ser53Ala) rs397516918
NM_004415.4(DSP):c.1587C>T (p.Tyr529=) rs2113677271
NM_004415.4(DSP):c.162C>T (p.Asp54=) rs1057113375
NM_004415.4(DSP):c.1701+6T>C rs1759015188
NM_004415.4(DSP):c.1707A>G (p.Lys569=) rs1759045455
NM_004415.4(DSP):c.171-6C>T rs2113653683
NM_004415.4(DSP):c.1743C>A (p.Ala581=) rs139095230
NM_004415.4(DSP):c.177C>T (p.Thr59=) rs376873185
NM_004415.4(DSP):c.1806T>C (p.Asp602=) rs560969680
NM_004415.4(DSP):c.1824A>T (p.Ile608=) rs776461292
NM_004415.4(DSP):c.1851G>A (p.Lys617=) rs1759052144
NM_004415.4(DSP):c.1903+3C>T rs754326012
NM_004415.4(DSP):c.1938C>T (p.Cys646=) rs1759064440
NM_004415.4(DSP):c.2031G>A (p.Arg677=) rs201262774
NM_004415.4(DSP):c.2085C>T (p.Asp695=) rs751917053
NM_004415.4(DSP):c.2184T>C (p.Asp728=) rs750383681
NM_004415.4(DSP):c.2205T>C (p.Gly735=) rs1561692450
NM_004415.4(DSP):c.2208T>A (p.Ser736=)
NM_004415.4(DSP):c.2259G>A (p.Leu753=) rs1759156637
NM_004415.4(DSP):c.2298-10C>T rs1057522919
NM_004415.4(DSP):c.2298-5T>C rs969832224
NM_004415.4(DSP):c.2322C>G (p.Leu774=) rs1561692987
NM_004415.4(DSP):c.2403G>A (p.Leu801=) rs1759182985
NM_004415.4(DSP):c.2412G>A (p.Val804=) rs773330932
NM_004415.4(DSP):c.2538T>C (p.Tyr846=) rs765837163
NM_004415.4(DSP):c.2540C>G (p.Pro847Arg) rs727504657
NM_004415.4(DSP):c.2580C>T (p.Val860=) rs1759210274
NM_004415.4(DSP):c.2613T>C (p.Asp871=) rs1759212109
NM_004415.4(DSP):c.2628T>C (p.Phe876=) rs1759212674
NM_004415.4(DSP):c.2631-10T>A rs369840498
NM_004415.4(DSP):c.2631-3C>T rs1041054817
NM_004415.4(DSP):c.2631-3dup rs1759237078
NM_004415.4(DSP):c.2661A>G (p.Gln887=) rs2113686490
NM_004415.4(DSP):c.2736A>G (p.Leu912=) rs2113686692
NM_004415.4(DSP):c.274-11T>C
NM_004415.4(DSP):c.2765C>T (p.Thr922Ile) rs755099716
NM_004415.4(DSP):c.2769C>T (p.Val923=) rs767744438
NM_004415.4(DSP):c.277T>C (p.Leu93=) rs1561680562
NM_004415.4(DSP):c.2794-7T>C rs397516926
NM_004415.4(DSP):c.2817C>G (p.Gly939=) rs1759259923
NM_004415.4(DSP):c.2823A>T (p.Arg941=)
NM_004415.4(DSP):c.2826C>T (p.Asp942=) rs1759260408
NM_004415.4(DSP):c.2967T>G (p.Ser989=) rs1338136683
NM_004415.4(DSP):c.3006G>A (p.Arg1002=) rs1759317112
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.3049T>C (p.Leu1017=) rs1759319034
NM_004415.4(DSP):c.3069T>C (p.Ser1023=)
NM_004415.4(DSP):c.3195C>T (p.Tyr1065=)
NM_004415.4(DSP):c.3228T>C (p.Leu1076=) rs1759344945
NM_004415.4(DSP):c.3261G>A (p.Glu1087=) rs1045685133
NM_004415.4(DSP):c.3276G>A (p.Ser1092=) rs202057409
NM_004415.4(DSP):c.3325G>A (p.Glu1109Lys) rs367763339
NM_004415.4(DSP):c.3339A>T (p.Arg1113=)
NM_004415.4(DSP):c.3351G>A (p.Glu1117=) rs1759350245
NM_004415.4(DSP):c.3370A>C (p.Arg1124=)
NM_004415.4(DSP):c.342C>T (p.Ala114=)
NM_004415.4(DSP):c.3462T>A (p.Gly1154=) rs1554108086
NM_004415.4(DSP):c.3468G>A (p.Gln1156=) rs947354271
NM_004415.4(DSP):c.3546C>A (p.Gly1182=) rs1355395147
NM_004415.4(DSP):c.3573G>A (p.Glu1191=) rs750659892
NM_004415.4(DSP):c.3696C>G (p.Ser1232=) rs141120358
NM_004415.4(DSP):c.3720T>C (p.Asp1240=) rs1759365530
NM_004415.4(DSP):c.3738T>C (p.Asn1246=)
NM_004415.4(DSP):c.3804G>A (p.Arg1268=) rs1759369971
NM_004415.4(DSP):c.3822C>T (p.Ala1274=) rs1759370826
NM_004415.4(DSP):c.3918T>C (p.Asn1306=) rs761749643
NM_004415.4(DSP):c.3956C>G (p.Thr1319Ser) rs138599871
NM_004415.4(DSP):c.3981C>A (p.Ile1327=) rs397516934
NM_004415.4(DSP):c.4029A>G (p.Glu1343=) rs766215175
NM_004415.4(DSP):c.4104C>T (p.Thr1368=) rs1464715776
NM_004415.4(DSP):c.411T>G (p.Ala137=) rs745536008
NM_004415.4(DSP):c.4209G>A (p.Arg1403=) rs1561698567
NM_004415.4(DSP):c.4213T>C (p.Leu1405=) rs1451895767
NM_004415.4(DSP):c.423-11T>A rs1758598034
NM_004415.4(DSP):c.4275G>A (p.Arg1425=) rs763489227
NM_004415.4(DSP):c.4305C>A (p.Ala1435=)
NM_004415.4(DSP):c.4350G>A (p.Glu1450=) rs1561698730
NM_004415.4(DSP):c.4372C>A (p.Arg1458=) rs28763965
NM_004415.4(DSP):c.4428C>T (p.Ile1476=) rs754071010
NM_004415.4(DSP):c.4434T>C (p.Asp1478=) rs2113694074
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.4515G>A (p.Ala1505=) rs193197554
NM_004415.4(DSP):c.4554C>T (p.Asn1518=) rs1359876288
NM_004415.4(DSP):c.4569G>A (p.Glu1523=) rs772831377
NM_004415.4(DSP):c.4608A>C (p.Thr1536=) rs1759409095
NM_004415.4(DSP):c.4761C>T (p.Asp1587=) rs2113694837
NM_004415.4(DSP):c.4788A>G (p.Glu1596=) rs1759417158
NM_004415.4(DSP):c.4791G>A (p.Glu1597=)
NM_004415.4(DSP):c.4842C>T (p.Asn1614=) rs757848942
NM_004415.4(DSP):c.4857G>C (p.Leu1619=) rs373385083
NM_004415.4(DSP):c.4866A>G (p.Ala1622=) rs778160298
NM_004415.4(DSP):c.4881G>A (p.Lys1627=)
NM_004415.4(DSP):c.4896C>T (p.Asp1632=)
NM_004415.4(DSP):c.4899C>T (p.Leu1633=) rs876657459
NM_004415.4(DSP):c.4992G>A (p.Leu1664=) rs772302453
NM_004415.4(DSP):c.5004A>G (p.Leu1668=)
NM_004415.4(DSP):c.5016G>A (p.Gln1672=) rs1759428613
NM_004415.4(DSP):c.5037C>T (p.His1679=) rs1759429694
NM_004415.4(DSP):c.5064G>A (p.Ala1688=) rs886061747
NM_004415.4(DSP):c.5116C>T (p.Leu1706=) rs1759432452
NM_004415.4(DSP):c.5205G>A (p.Arg1735=) rs1561700008
NM_004415.4(DSP):c.5212C>A (p.Arg1738=)
NM_004415.4(DSP):c.5223G>C (p.Ala1741=) rs201984474
NM_004415.4(DSP):c.5257A>C (p.Arg1753=) rs775072446
NM_004415.4(DSP):c.525G>A (p.Gln175=) rs2113659894
NM_004415.4(DSP):c.5289C>G (p.Thr1763=) rs1759439863
NM_004415.4(DSP):c.531C>T (p.Gly177=)
NM_004415.4(DSP):c.5364A>G (p.Gln1788=)
NM_004415.4(DSP):c.5380-9C>T
NM_004415.4(DSP):c.5391G>A (p.Arg1797=) rs778745098
NM_004415.4(DSP):c.53T>C (p.Ile18Thr) rs769533657
NM_004415.4(DSP):c.5448G>C (p.Leu1816=) rs1270969886
NM_004415.4(DSP):c.5499G>A (p.Glu1833=) rs775969808
NM_004415.4(DSP):c.5502T>C (p.Asp1834=) rs1759480555
NM_004415.4(DSP):c.5532G>A (p.Glu1844=) rs2113698068
NM_004415.4(DSP):c.5544G>A (p.Arg1848=) rs727503004
NM_004415.4(DSP):c.5565T>C (p.Cys1855=) rs2113698182
NM_004415.4(DSP):c.5679C>T (p.Asn1893=) rs1367738238
NM_004415.4(DSP):c.5763C>T (p.Thr1921=) rs1759495786
NM_004415.4(DSP):c.5802A>T (p.Arg1934=)
NM_004415.4(DSP):c.5847C>A (p.Ser1949=) rs953031251
NM_004415.4(DSP):c.598-7G>T rs1758732370
NM_004415.4(DSP):c.5997G>A (p.Lys1999=)
NM_004415.4(DSP):c.6096A>G (p.Val2032=)
NM_004415.4(DSP):c.6099G>A (p.Glu2033=)
NM_004415.4(DSP):c.60C>T (p.Ala20=)
NM_004415.4(DSP):c.613G>A (p.Val205Met)
NM_004415.4(DSP):c.6153C>G (p.Ala2051=) rs193922670
NM_004415.4(DSP):c.6162T>C (p.Ala2054=) rs1561702033
NM_004415.4(DSP):c.6225G>A (p.Arg2075=)
NM_004415.4(DSP):c.6267A>T (p.Ala2089=)
NM_004415.4(DSP):c.6297A>G (p.Pro2099=) rs1759525136
NM_004415.4(DSP):c.630C>T (p.Asp210=) rs2113665093
NM_004415.4(DSP):c.6372G>T (p.Leu2124=) rs2113700140
NM_004415.4(DSP):c.6373C>T (p.Leu2125=) rs1246415961
NM_004415.4(DSP):c.6405A>G (p.Val2135=) rs2113700286
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.6444C>T (p.Ala2148=)
NM_004415.4(DSP):c.6453G>A (p.Arg2151=)
NM_004415.4(DSP):c.6465T>C (p.Asp2155=)
NM_004415.4(DSP):c.6466A>C (p.Arg2156=) rs371355711
NM_004415.4(DSP):c.6472T>C (p.Leu2158=) rs1455927842
NM_004415.4(DSP):c.6486G>C (p.Leu2162=) rs1759535660
NM_004415.4(DSP):c.6495C>A (p.Pro2165=) rs778679255
NM_004415.4(DSP):c.6528C>A (p.Val2176=) rs1759538167
NM_004415.4(DSP):c.6576C>T (p.Ile2192=) rs1032400756
NM_004415.4(DSP):c.6654C>G (p.Thr2218=) rs727503005
NM_004415.4(DSP):c.666G>T (p.Arg222=) rs2113665201
NM_004415.4(DSP):c.6723T>A (p.Ile2241=) rs1219037519
NM_004415.4(DSP):c.6804A>G (p.Thr2268=) rs1561703011
NM_004415.4(DSP):c.681C>T (p.Ser227=) rs1758738979
NM_004415.4(DSP):c.6852A>T (p.Arg2284=) rs141148057
NM_004415.4(DSP):c.6865C>T (p.Leu2289=)
NM_004415.4(DSP):c.6918C>T (p.Ser2306=) rs1275471884
NM_004415.4(DSP):c.6954A>G (p.Arg2318=) rs2113701373
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.7020T>C (p.Asn2340=) rs1471479464
NM_004415.4(DSP):c.7041C>T (p.Ile2347=) rs748356667
NM_004415.4(DSP):c.7077C>A (p.Ile2359=)
NM_004415.4(DSP):c.723C>T (p.Asp241=) rs1758741409
NM_004415.4(DSP):c.7269T>C (p.Asn2423=) rs1759564582
NM_004415.4(DSP):c.7284A>G (p.Gln2428=) rs1759565168
NM_004415.4(DSP):c.729C>G (p.Arg243=) rs141028505
NM_004415.4(DSP):c.7365A>G (p.Thr2455=)
NM_004415.4(DSP):c.7446C>T (p.Ala2482=) rs2113702327
NM_004415.4(DSP):c.7458C>T (p.Gly2486=) rs1049252239
NM_004415.4(DSP):c.7521C>T (p.Thr2507=)
NM_004415.4(DSP):c.7539C>T (p.Gly2513=) rs1561703823
NM_004415.4(DSP):c.7545C>G (p.Thr2515=)
NM_004415.4(DSP):c.7554C>A (p.Val2518=) rs573057380
NM_004415.4(DSP):c.7560A>C (p.Val2520=) rs1759579885
NM_004415.4(DSP):c.7560A>G (p.Val2520=) rs1759579885
NM_004415.4(DSP):c.7578T>C (p.Ser2526=) rs527858295
NM_004415.4(DSP):c.7581G>A (p.Gln2527=) rs879254350
NM_004415.4(DSP):c.7605C>T (p.Asp2535=) rs1302470716
NM_004415.4(DSP):c.7647C>T (p.Ser2549=) rs765385403
NM_004415.4(DSP):c.7698T>C (p.Gly2566=) rs1759588620
NM_004415.4(DSP):c.7706C>T (p.Thr2569Ile) rs770464104
NM_004415.4(DSP):c.7716C>T (p.Ser2572=) rs773824736
NM_004415.4(DSP):c.7761T>C (p.His2587=)
NM_004415.4(DSP):c.778-11C>T rs766022259
NM_004415.4(DSP):c.778-6G>T rs1561685227
NM_004415.4(DSP):c.7854C>G (p.Pro2618=) rs759590338
NM_004415.4(DSP):c.7857T>C (p.Ile2619=)
NM_004415.4(DSP):c.7872C>T (p.Asp2624=) rs937704870
NM_004415.4(DSP):c.7893C>T (p.Ile2631=) rs778552693
NM_004415.4(DSP):c.78G>C (p.Leu26=) rs71559180
NM_004415.4(DSP):c.78G>T (p.Leu26=) rs71559180
NM_004415.4(DSP):c.7915C>A (p.Arg2639=) rs771553674
NM_004415.4(DSP):c.7932C>T (p.Ser2644=) rs1759607427
NM_004415.4(DSP):c.7935C>T (p.Ile2645=)
NM_004415.4(DSP):c.7983C>A (p.Ile2661=) rs1561704694
NM_004415.4(DSP):c.7989A>G (p.Pro2663=)
NM_004415.4(DSP):c.7992C>T (p.Thr2664=) rs1581825240
NM_004415.4(DSP):c.8004G>A (p.Lys2668=) rs1581825294
NM_004415.4(DSP):c.8111AGA[2] (p.Lys2706del) rs397516962
NM_004415.4(DSP):c.8115G>A (p.Lys2705=) rs1759619330
NM_004415.4(DSP):c.8130A>G (p.Ala2710=) rs1440748149
NM_004415.4(DSP):c.8139G>C (p.Val2713=) rs555992606
NM_004415.4(DSP):c.8166T>G (p.Ala2722=) rs1759622860
NM_004415.4(DSP):c.8187C>T (p.Phe2729=) rs369619485
NM_004415.4(DSP):c.81C>A (p.Arg27=) rs773559423
NM_004415.4(DSP):c.81C>G (p.Arg27=)
NM_004415.4(DSP):c.8223G>A (p.Val2741=) rs1318791546
NM_004415.4(DSP):c.8262G>A (p.Gly2754=) rs187226788
NM_004415.4(DSP):c.8280C>T (p.Ala2760=) rs1203424345
NM_004415.4(DSP):c.8300C>T (p.Thr2767Ile) rs34884895
NM_004415.4(DSP):c.8319C>T (p.Ile2773=)
NM_004415.4(DSP):c.8320C>T (p.Leu2774=) rs397516964
NM_004415.4(DSP):c.8358G>A (p.Lys2786=) rs1759636996
NM_004415.4(DSP):c.8388T>C (p.Asp2796=) rs1478242707
NM_004415.4(DSP):c.8418C>A (p.Ala2806=) rs1581826536
NM_004415.4(DSP):c.8430C>A (p.Ser2810=) rs1759641049
NM_004415.4(DSP):c.8430C>T (p.Ser2810=) rs1759641049
NM_004415.4(DSP):c.843G>A (p.Arg281=) rs1427960878
NM_004415.4(DSP):c.8442C>T (p.Pro2814=) rs1581826610
NM_004415.4(DSP):c.8445C>T (p.Ser2815=) rs1228176948
NM_004415.4(DSP):c.8469G>A (p.Pro2823=) rs1581826698
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.8493G>A (p.Ser2831=) rs397516969
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.8499T>C (p.Ser2833=) rs1468666445
NM_004415.4(DSP):c.8508_8517delinsGTCCCGCAGT (p.Gly2836_Ser2839=) rs1561706189
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.8559A>G (p.Thr2853=) rs1759653585
NM_004415.4(DSP):c.861T>C (p.Asn287=) rs121912993
NM_004415.4(DSP):c.891C>T (p.Asp297=) rs2113669443
NM_004415.4(DSP):c.940-9C>G rs1016646349
NM_004415.4(DSP):c.96C>T (p.Ser32=) rs1440994214
NM_004415.4(DSP):c.981T>C (p.Asn327=) rs1232724040
NM_004415.4(DSP):c.985C>T (p.Leu329=) rs546320453
NM_004415.4(DSP):c.99C>T (p.Gly33=) rs755898551

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