ClinVar Miner

List of variants in gene DSP reported as uncertain significance for arrhythmogenic right ventricular dysplasia 8

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 1330
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HGVS dbSNP gnomAD frequency
NM_004415.4(DSP):c.1dup (p.Met1fs) rs17133512 0.17362
NM_004415.4(DSP):c.6208G>A (p.Asp2070Asn) rs41302885 0.00290
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.2346C>T (p.Asp782=) rs139071827 0.00126
NM_004415.4(DSP):c.88G>A (p.Val30Met) rs121912998 0.00094
NM_004415.4(DSP):c.4065T>C (p.Tyr1355=) rs148478829 0.00073
NM_004415.4(DSP):c.1574+14G>T rs200443042 0.00048
NM_004415.4(DSP):c.8019C>T (p.Asp2673=) rs144275591 0.00047
NM_004415.4(DSP):c.8301C>G (p.Thr2767=) rs145362059 0.00046
NM_004415.4(DSP):c.2683T>C (p.Tyr895His) rs375891215 0.00043
NM_004415.4(DSP):c.3123C>T (p.Leu1041=) rs149929637 0.00042
NM_004415.4(DSP):c.5167G>C (p.Glu1723Gln) rs142803672 0.00041
NM_004415.4(DSP):c.688G>A (p.Asp230Asn) rs147315869 0.00038
NM_004415.4(DSP):c.2288A>G (p.Tyr763Cys) rs113967308 0.00034
NM_004415.4(DSP):c.273+5G>A rs200473206 0.00031
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.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.6247C>T (p.Arg2083Cys) rs370093129 0.00019
NM_004415.4(DSP):c.-157G>A rs886061742 0.00016
NM_004415.4(DSP):c.2468C>T (p.Ser823Leu) rs141834182 0.00016
NM_004415.4(DSP):c.6479G>A (p.Arg2160Gln) rs146642551 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.*577G>A rs886061755 0.00013
NM_004415.4(DSP):c.1575-15C>G rs369184165 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.*289C>T rs886061749 0.00012
NM_004415.4(DSP):c.2134G>A (p.Val712Met) rs397516922 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.3146C>T (p.Ser1049Leu) rs751361395 0.00010
NM_004415.4(DSP):c.3922C>T (p.Arg1308Trp) rs144641271 0.00010
NM_004415.4(DSP):c.6307A>G (p.Lys2103Glu) rs149513743 0.00010
NM_004415.4(DSP):c.*58T>C rs753281894 0.00009
NM_004415.4(DSP):c.2799G>C (p.Leu933Phe) rs372922674 0.00009
NM_004415.4(DSP):c.424C>T (p.Leu142Phe) rs373769397 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.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.2941A>G (p.Lys981Glu) rs747580402 0.00007
NM_004415.4(DSP):c.3102C>T (p.Ile1034=) rs569974617 0.00007
NM_004415.4(DSP):c.5363A>G (p.Gln1788Arg) rs139673146 0.00007
NM_004415.4(DSP):c.8172G>T (p.Gln2724His) rs372569211 0.00007
NM_004415.4(DSP):c.2122G>A (p.Glu708Lys) rs773113261 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.5197G>A (p.Asp1733Asn) rs138588403 0.00006
NM_004415.4(DSP):c.6511A>G (p.Asn2171Asp) rs149827779 0.00006
NM_004415.4(DSP):c.*62A>T rs182788116 0.00005
NM_004415.4(DSP):c.2247A>G (p.Leu749=) rs28763963 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.5285G>A (p.Arg1762Gln) rs751849031 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.7964C>G (p.Ala2655Gly) rs193922671 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.916G>A (p.Ala306Thr) rs368193211 0.00005
NM_004415.4(DSP):c.137G>A (p.Gly46Asp) rs140403872 0.00004
NM_004415.4(DSP):c.1418A>G (p.Gln473Arg) rs746802503 0.00004
NM_004415.4(DSP):c.2360A>G (p.Tyr787Cys) rs778350289 0.00004
NM_004415.4(DSP):c.2622C>G (p.Ile874Met) rs751067479 0.00004
NM_004415.4(DSP):c.264C>T (p.Ile88=) rs727502997 0.00004
NM_004415.4(DSP):c.2684A>G (p.Tyr895Cys) rs367752002 0.00004
NM_004415.4(DSP):c.3134G>A (p.Arg1045Gln) rs374263890 0.00004
NM_004415.4(DSP):c.3684A>C (p.Lys1228Asn) rs765645957 0.00004
NM_004415.4(DSP):c.3863A>G (p.Lys1288Arg) rs746482538 0.00004
NM_004415.4(DSP):c.3904C>T (p.Arg1302Cys) rs775594375 0.00004
NM_004415.4(DSP):c.4199G>A (p.Arg1400Gln) rs748109826 0.00004
NM_004415.4(DSP):c.4490G>A (p.Arg1497Gln) rs727505037 0.00004
NM_004415.4(DSP):c.4696C>G (p.Leu1566Val) rs201785897 0.00004
NM_004415.4(DSP):c.4997G>A (p.Arg1666Gln) rs768577891 0.00004
NM_004415.4(DSP):c.5194G>A (p.Asp1732Asn) rs780224658 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.6595C>T (p.Leu2199Phe) rs549451471 0.00004
NM_004415.4(DSP):c.7970C>T (p.Thr2657Ile) rs1478775642 0.00004
NM_004415.4(DSP):c.8117A>T (p.Lys2706Met) rs537588390 0.00004
NM_004415.4(DSP):c.8500C>T (p.Arg2834Cys) rs753033333 0.00004
NM_004415.4(DSP):c.8590T>C (p.Phe2864Leu) rs764514210 0.00004
NM_004415.4(DSP):c.939C>T (p.Ser313=) rs766580649 0.00004
NM_004415.4(DSP):c.*358A>T rs886061752 0.00003
NM_004415.4(DSP):c.1103T>C (p.Ile368Thr) rs141163578 0.00003
NM_004415.4(DSP):c.1324T>G (p.Ser442Ala) rs755492444 0.00003
NM_004415.4(DSP):c.1630A>C (p.Met544Leu) rs201960323 0.00003
NM_004415.4(DSP):c.1743C>T (p.Ala581=) rs139095230 0.00003
NM_004415.4(DSP):c.1840G>A (p.Asp614Asn) rs764951792 0.00003
NM_004415.4(DSP):c.2038G>A (p.Glu680Lys) rs1186943530 0.00003
NM_004415.4(DSP):c.2345A>G (p.Asp782Gly) rs557966264 0.00003
NM_004415.4(DSP):c.2540C>T (p.Pro847Leu) rs727504657 0.00003
NM_004415.4(DSP):c.2566T>C (p.Phe856Leu) rs779253041 0.00003
NM_004415.4(DSP):c.3153C>A (p.Asn1051Lys) rs563387839 0.00003
NM_004415.4(DSP):c.3551G>A (p.Arg1184Gln) rs147909031 0.00003
NM_004415.4(DSP):c.3650C>T (p.Thr1217Met) rs535202724 0.00003
NM_004415.4(DSP):c.4081A>C (p.Ser1361Arg) rs747326519 0.00003
NM_004415.4(DSP):c.4105G>A (p.Glu1369Lys) rs141805096 0.00003
NM_004415.4(DSP):c.4373G>A (p.Arg1458Gln) rs370063434 0.00003
NM_004415.4(DSP):c.4492A>G (p.Lys1498Glu) rs794728122 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.5899G>A (p.Val1967Met) rs397516949 0.00003
NM_004415.4(DSP):c.6187C>G (p.Arg2063Gly) rs374090050 0.00003
NM_004415.4(DSP):c.6935T>C (p.Val2312Ala) rs886061748 0.00003
NM_004415.4(DSP):c.7039A>G (p.Ile2347Val) rs768837509 0.00003
NM_004415.4(DSP):c.7075A>G (p.Ile2359Val) rs774087560 0.00003
NM_004415.4(DSP):c.7588A>T (p.Ile2530Phe) rs397516958 0.00003
NM_004415.4(DSP):c.7915C>T (p.Arg2639Trp) rs771553674 0.00003
NM_004415.4(DSP):c.8401C>G (p.Arg2801Gly) rs760215987 0.00003
NM_004415.4(DSP):c.860A>G (p.Asn287Ser) rs138872423 0.00003
NM_004415.4(DSP):c.997A>G (p.Ser333Gly) rs773685575 0.00003
NM_004415.4(DSP):c.1040T>C (p.Ile347Thr) rs757208743 0.00002
NM_004415.4(DSP):c.104G>C (p.Gly35Ala) rs202194206 0.00002
NM_004415.4(DSP):c.1149A>G (p.Glu383=) rs572980966 0.00002
NM_004415.4(DSP):c.1419+5G>C rs1004508873 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.2234A>G (p.Glu745Gly) rs969462343 0.00002
NM_004415.4(DSP):c.2479A>T (p.Thr827Ser) rs1009521297 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.3147G>A (p.Ser1049=) rs756341143 0.00002
NM_004415.4(DSP):c.3303C>T (p.Tyr1101=) rs372440854 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.4233G>C (p.Arg1411Ser) rs771721410 0.00002
NM_004415.4(DSP):c.4478A>C (p.Glu1493Ala) rs760433367 0.00002
NM_004415.4(DSP):c.449G>A (p.Arg150Gln) rs587782940 0.00002
NM_004415.4(DSP):c.4867T>C (p.Ser1623Pro) rs749679496 0.00002
NM_004415.4(DSP):c.4886G>T (p.Ser1629Ile) rs200243976 0.00002
NM_004415.4(DSP):c.5009A>G (p.Gln1670Arg) rs1052973336 0.00002
NM_004415.4(DSP):c.517A>T (p.Thr173Ser) rs1372912970 0.00002
NM_004415.4(DSP):c.5183G>A (p.Arg1728Lys) rs750854585 0.00002
NM_004415.4(DSP):c.5324G>T (p.Arg1775Ile) rs34738426 0.00002
NM_004415.4(DSP):c.6269A>G (p.Glu2090Gly) rs755069593 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.7200A>C (p.Glu2400Asp) rs1209240894 0.00002
NM_004415.4(DSP):c.740C>T (p.Ala247Val) rs544360130 0.00002
NM_004415.4(DSP):c.7622G>A (p.Arg2541Lys) rs142078450 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.82T>G (p.Tyr28Asp) rs766454930 0.00002
NM_004415.4(DSP):c.8374T>A (p.Ser2792Thr) rs727504570 0.00002
NM_004415.4(DSP):c.8536C>G (p.Arg2846Gly) rs397516972 0.00002
NM_004415.4(DSP):c.*112A>G rs141059005 0.00001
NM_004415.4(DSP):c.*137T>C rs756543548 0.00001
NM_004415.4(DSP):c.1012C>T (p.Leu338Phe) rs774852168 0.00001
NM_004415.4(DSP):c.1016A>G (p.Asn339Ser) rs746245682 0.00001
NM_004415.4(DSP):c.1045-3C>T rs765077011 0.00001
NM_004415.4(DSP):c.1136T>C (p.Phe379Ser) rs1064795084 0.00001
NM_004415.4(DSP):c.120G>A (p.Met40Ile) rs1377575571 0.00001
NM_004415.4(DSP):c.1225A>T (p.Met409Leu) rs890837021 0.00001
NM_004415.4(DSP):c.1262T>C (p.Leu421Pro) rs763523373 0.00001
NM_004415.4(DSP):c.1268A>G (p.Lys423Arg) rs1175321093 0.00001
NM_004415.4(DSP):c.1274G>A (p.Arg425Gln) rs397516916 0.00001
NM_004415.4(DSP):c.1279A>G (p.Lys427Glu) rs1430756602 0.00001
NM_004415.4(DSP):c.1283T>A (p.Ile428Asn) rs760246407 0.00001
NM_004415.4(DSP):c.1291T>C (p.Tyr431His) rs1039885114 0.00001
NM_004415.4(DSP):c.1297C>T (p.Arg433Cys) rs767032884 0.00001
NM_004415.4(DSP):c.1323G>C (p.Lys441Asn) rs1037212969 0.00001
NM_004415.4(DSP):c.1378C>G (p.Pro460Ala) rs749422119 0.00001
NM_004415.4(DSP):c.1468C>T (p.Arg490Cys) rs781084693 0.00001
NM_004415.4(DSP):c.1553T>G (p.Leu518Arg) rs1758969230 0.00001
NM_004415.4(DSP):c.1562A>C (p.Asp521Ala) rs748790273 0.00001
NM_004415.4(DSP):c.1564C>G (p.Leu522Val) rs1230995902 0.00001
NM_004415.4(DSP):c.1574+3A>G rs1231896749 0.00001
NM_004415.4(DSP):c.1671A>G (p.Ile557Met) rs766505506 0.00001
NM_004415.4(DSP):c.1726T>C (p.Tyr576His) rs1251859576 0.00001
NM_004415.4(DSP):c.1730T>C (p.Met577Thr) rs141956992 0.00001
NM_004415.4(DSP):c.181A>G (p.Thr61Ala) rs1380249575 0.00001
NM_004415.4(DSP):c.1901C>G (p.Thr634Arg) rs139964486 0.00001
NM_004415.4(DSP):c.1960G>A (p.Val654Ile) rs375629257 0.00001
NM_004415.4(DSP):c.2030G>A (p.Arg677Lys) rs749238502 0.00001
NM_004415.4(DSP):c.2054G>C (p.Arg685Thr) rs1212756552 0.00001
NM_004415.4(DSP):c.2071C>T (p.Leu691Phe) rs1363445022 0.00001
NM_004415.4(DSP):c.2081C>T (p.Ala694Val) rs543446763 0.00001
NM_004415.4(DSP):c.2131-5G>C rs767939332 0.00001
NM_004415.4(DSP):c.2158G>T (p.Ala720Ser) rs1180846023 0.00001
NM_004415.4(DSP):c.2192C>A (p.Ala731Asp) rs1280322841 0.00001
NM_004415.4(DSP):c.2246T>C (p.Leu749Pro) rs935504136 0.00001
NM_004415.4(DSP):c.2298-3C>T rs1300722110 0.00001
NM_004415.4(DSP):c.2377G>A (p.Glu793Lys) rs755067397 0.00001
NM_004415.4(DSP):c.2423G>A (p.Arg808His) rs372906646 0.00001
NM_004415.4(DSP):c.2510A>C (p.Gln837Pro) rs1202933658 0.00001
NM_004415.4(DSP):c.2550_2552dup (p.Leu851dup) rs730880373 0.00001
NM_004415.4(DSP):c.2617C>G (p.Gln873Glu) rs794728118 0.00001
NM_004415.4(DSP):c.2629A>C (p.Arg877=) rs1581810753 0.00001
NM_004415.4(DSP):c.2630+3A>G rs1174928581 0.00001
NM_004415.4(DSP):c.2689G>C (p.Ala897Pro) rs1008407158 0.00001
NM_004415.4(DSP):c.273+3A>G rs794728107 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.2872A>G (p.Ile958Val) rs377116090 0.00001
NM_004415.4(DSP):c.2878-4G>A rs758303966 0.00001
NM_004415.4(DSP):c.2906C>T (p.Thr969Ile) rs1265482489 0.00001
NM_004415.4(DSP):c.2924T>C (p.Leu975Pro) rs1473895931 0.00001
NM_004415.4(DSP):c.2959T>A (p.Ser987Thr) rs397516929 0.00001
NM_004415.4(DSP):c.2962C>T (p.Pro988Ser) rs774742340 0.00001
NM_004415.4(DSP):c.2966C>T (p.Ser989Phe) rs746346559 0.00001
NM_004415.4(DSP):c.2985G>A (p.Glu995=) rs768858918 0.00001
NM_004415.4(DSP):c.2995G>A (p.Val999Ile) rs1261418744 0.00001
NM_004415.4(DSP):c.2T>G (p.Met1Arg) rs748738880 0.00001
NM_004415.4(DSP):c.3001G>T (p.Ala1001Ser) rs1218975129 0.00001
NM_004415.4(DSP):c.3004C>T (p.Arg1002Trp) rs772551736 0.00001
NM_004415.4(DSP):c.3025A>G (p.Arg1009Gly) rs1413346143 0.00001
NM_004415.4(DSP):c.3059T>C (p.Met1020Thr) rs773331618 0.00001
NM_004415.4(DSP):c.3067A>C (p.Ser1023Arg) rs766388963 0.00001
NM_004415.4(DSP):c.3084G>A (p.Lys1028=) rs964949139 0.00001
NM_004415.4(DSP):c.308G>A (p.Arg103Gln) rs775015862 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.3379T>C (p.Ser1127Pro) rs1581815458 0.00001
NM_004415.4(DSP):c.3550C>T (p.Arg1184Trp) rs761331634 0.00001
NM_004415.4(DSP):c.3601G>A (p.Glu1201Lys) rs751566392 0.00001
NM_004415.4(DSP):c.3644A>G (p.Asn1215Ser) rs777375223 0.00001
NM_004415.4(DSP):c.3649A>T (p.Thr1217Ser) rs770484693 0.00001
NM_004415.4(DSP):c.364G>A (p.Asp122Asn) rs756013600 0.00001
NM_004415.4(DSP):c.3680A>G (p.Gln1227Arg) rs1458557680 0.00001
NM_004415.4(DSP):c.3742G>A (p.Asp1248Asn) rs989348634 0.00001
NM_004415.4(DSP):c.3757A>C (p.Ile1253Leu) rs924651718 0.00001
NM_004415.4(DSP):c.3820G>A (p.Ala1274Thr) rs1285435504 0.00001
NM_004415.4(DSP):c.3838T>C (p.Cys1280Arg) rs1473719755 0.00001
NM_004415.4(DSP):c.385C>T (p.Arg129Trp) rs777763456 0.00001
NM_004415.4(DSP):c.38C>T (p.Thr13Ile) rs201133637 0.00001
NM_004415.4(DSP):c.4046G>A (p.Ser1349Asn) rs144465638 0.00001
NM_004415.4(DSP):c.4103C>T (p.Thr1368Ile) rs530481219 0.00001
NM_004415.4(DSP):c.4112A>G (p.Asn1371Ser) rs369649373 0.00001
NM_004415.4(DSP):c.4118C>T (p.Thr1373Ile) rs762930286 0.00001
NM_004415.4(DSP):c.4142C>G (p.Thr1381Ser) rs767174407 0.00001
NM_004415.4(DSP):c.4184T>A (p.Ile1395Lys) rs1220191244 0.00001
NM_004415.4(DSP):c.423G>C (p.Arg141Ser) rs771688614 0.00001
NM_004415.4(DSP):c.4303G>C (p.Ala1435Pro) rs751972271 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.4358A>C (p.Gln1453Pro) rs1464785832 0.00001
NM_004415.4(DSP):c.4457T>C (p.Leu1486Ser) rs779863353 0.00001
NM_004415.4(DSP):c.4592A>C (p.Gln1531Pro) rs1208037043 0.00001
NM_004415.4(DSP):c.4621G>A (p.Asp1541Asn) rs750607476 0.00001
NM_004415.4(DSP):c.4625A>G (p.Tyr1542Cys) rs1279142467 0.00001
NM_004415.4(DSP):c.4671G>A (p.Thr1557=) rs367767551 0.00001
NM_004415.4(DSP):c.4684T>C (p.Ser1562Pro) rs1394590334 0.00001
NM_004415.4(DSP):c.4754C>T (p.Ser1585Leu) rs773622004 0.00001
NM_004415.4(DSP):c.4841A>G (p.Asn1614Ser) rs1759419529 0.00001
NM_004415.4(DSP):c.4862A>G (p.Gln1621Arg) rs1226931552 0.00001
NM_004415.4(DSP):c.4916T>G (p.Val1639Gly) rs1304994640 0.00001
NM_004415.4(DSP):c.5014C>G (p.Gln1672Glu) rs786205416 0.00001
NM_004415.4(DSP):c.5062G>A (p.Ala1688Thr) rs757753880 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.5123C>T (p.Ser1708Phe) rs372452104 0.00001
NM_004415.4(DSP):c.5153T>C (p.Leu1718Ser) rs1278859783 0.00001
NM_004415.4(DSP):c.5186T>G (p.Leu1729Arg) rs377344768 0.00001
NM_004415.4(DSP):c.5217C>T (p.Ser1739=) rs748263306 0.00001
NM_004415.4(DSP):c.5242A>G (p.Thr1748Ala) rs1315952619 0.00001
NM_004415.4(DSP):c.5284C>T (p.Arg1762Trp) rs766833113 0.00001
NM_004415.4(DSP):c.5396A>G (p.Gln1799Arg) rs987386495 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.5707C>A (p.Gln1903Lys) rs794728103 0.00001
NM_004415.4(DSP):c.5752G>A (p.Glu1918Lys) rs1352220803 0.00001
NM_004415.4(DSP):c.5779C>G (p.Gln1927Glu) rs794728104 0.00001
NM_004415.4(DSP):c.5820T>C (p.Asp1940=) rs763026647 0.00001
NM_004415.4(DSP):c.582G>T (p.Trp194Cys) rs1345570966 0.00001
NM_004415.4(DSP):c.5875T>C (p.Trp1959Arg) rs1759501923 0.00001
NM_004415.4(DSP):c.5959G>A (p.Asp1987Asn) rs759443302 0.00001
NM_004415.4(DSP):c.5984T>C (p.Leu1995Ser) rs794728128 0.00001
NM_004415.4(DSP):c.599C>T (p.Ala200Val) rs1337095425 0.00001
NM_004415.4(DSP):c.6002T>A (p.Val2001Glu) rs926676669 0.00001
NM_004415.4(DSP):c.6038G>A (p.Arg2013Gln) rs557263443 0.00001
NM_004415.4(DSP):c.6059G>C (p.Gly2020Ala) rs1327599046 0.00001
NM_004415.4(DSP):c.6112A>C (p.Lys2038Gln) rs185846631 0.00001
NM_004415.4(DSP):c.6137T>G (p.Val2046Gly) rs746016404 0.00001
NM_004415.4(DSP):c.6141G>C (p.Met2047Ile) rs374226658 0.00001
NM_004415.4(DSP):c.6233T>C (p.Ile2078Thr) rs377035113 0.00001
NM_004415.4(DSP):c.6235G>C (p.Asp2079His) rs992731463 0.00001
NM_004415.4(DSP):c.6259T>C (p.Tyr2087His) rs780332266 0.00001
NM_004415.4(DSP):c.6325G>A (p.Glu2109Lys) rs397516951 0.00001
NM_004415.4(DSP):c.6359C>T (p.Thr2120Ile) rs1759528864 0.00001
NM_004415.4(DSP):c.6367C>T (p.Arg2123Cys) rs372242085 0.00001
NM_004415.4(DSP):c.6403G>A (p.Val2135Ile) rs1416815807 0.00001
NM_004415.4(DSP):c.6415A>G (p.Asn2139Asp) rs762434061 0.00001
NM_004415.4(DSP):c.6547T>G (p.Tyr2183Asp) rs763549172 0.00001
NM_004415.4(DSP):c.6587C>T (p.Thr2196Ile) rs958098310 0.00001
NM_004415.4(DSP):c.6592C>G (p.Leu2198Val) rs752057967 0.00001
NM_004415.4(DSP):c.664C>T (p.Arg222Trp) rs1233981969 0.00001
NM_004415.4(DSP):c.6689C>T (p.Pro2230Leu) rs759982048 0.00001
NM_004415.4(DSP):c.6733G>A (p.Glu2245Lys) rs539763516 0.00001
NM_004415.4(DSP):c.677A>G (p.Asn226Ser) rs921332894 0.00001
NM_004415.4(DSP):c.6859A>T (p.Thr2287Ser) rs869025396 0.00001
NM_004415.4(DSP):c.6902T>C (p.Ile2301Thr) rs772381363 0.00001
NM_004415.4(DSP):c.6947A>G (p.Tyr2316Cys) rs765245807 0.00001
NM_004415.4(DSP):c.6956G>A (p.Gly2319Asp) rs762943687 0.00001
NM_004415.4(DSP):c.695G>A (p.Arg232His) rs749438581 0.00001
NM_004415.4(DSP):c.6968T>C (p.Ile2323Thr) rs777901747 0.00001
NM_004415.4(DSP):c.7162G>A (p.Val2388Ile) rs370490538 0.00001
NM_004415.4(DSP):c.7172C>T (p.Ala2391Val) rs879254351 0.00001
NM_004415.4(DSP):c.7193A>G (p.Asn2398Ser) rs1251606363 0.00001
NM_004415.4(DSP):c.7279C>A (p.Leu2427Met) rs555784793 0.00001
NM_004415.4(DSP):c.7341A>C (p.Lys2447Asn) rs755448403 0.00001
NM_004415.4(DSP):c.7390C>T (p.Arg2464Cys) rs778822920 0.00001
NM_004415.4(DSP):c.7433C>T (p.Ser2478Phe) rs1759570987 0.00001
NM_004415.4(DSP):c.7451A>G (p.Lys2484Arg) rs1346398330 0.00001
NM_004415.4(DSP):c.7501T>C (p.Cys2501Arg) rs776405018 0.00001
NM_004415.4(DSP):c.7534G>T (p.Asp2512Tyr) rs772574987 0.00001
NM_004415.4(DSP):c.7551G>A (p.Val2517=) rs754127386 0.00001
NM_004415.4(DSP):c.764A>T (p.Tyr255Phe) rs1490279963 0.00001
NM_004415.4(DSP):c.7694A>C (p.Asn2565Thr) rs769572594 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.7783A>G (p.Thr2595Ala) rs1170072296 0.00001
NM_004415.4(DSP):c.7784C>T (p.Thr2595Ile) rs772951950 0.00001
NM_004415.4(DSP):c.7810A>G (p.Ile2604Val) rs1301635888 0.00001
NM_004415.4(DSP):c.7819A>G (p.Ser2607Gly) rs1371480664 0.00001
NM_004415.4(DSP):c.7855A>G (p.Ile2619Val) rs767630308 0.00001
NM_004415.4(DSP):c.7885G>A (p.Glu2629Lys) rs756976948 0.00001
NM_004415.4(DSP):c.7994C>T (p.Thr2665Met) rs151309106 0.00001
NM_004415.4(DSP):c.8014C>G (p.Gln2672Glu) rs1064793890 0.00001
NM_004415.4(DSP):c.8015A>C (p.Gln2672Pro) rs1060500612 0.00001
NM_004415.4(DSP):c.8032G>A (p.Gly2678Ser) rs1371748682 0.00001
NM_004415.4(DSP):c.8050A>G (p.Met2684Val) rs147801650 0.00001
NM_004415.4(DSP):c.8133G>T (p.Glu2711Asp) rs375348086 0.00001
NM_004415.4(DSP):c.8137G>A (p.Val2713Met) rs1219478425 0.00001
NM_004415.4(DSP):c.8159A>T (p.Tyr2720Phe) rs367972703 0.00001
NM_004415.4(DSP):c.8162A>G (p.Glu2721Gly) rs1324438820 0.00001
NM_004415.4(DSP):c.8210T>C (p.Val2737Ala) rs794728155 0.00001
NM_004415.4(DSP):c.8216C>T (p.Pro2739Leu) rs761527198 0.00001
NM_004415.4(DSP):c.8217G>A (p.Pro2739=) rs755508926 0.00001
NM_004415.4(DSP):c.8253C>G (p.Ile2751Met) rs1165200201 0.00001
NM_004415.4(DSP):c.8278G>A (p.Ala2760Thr) rs991726607 0.00001
NM_004415.4(DSP):c.8330C>A (p.Pro2777His) rs376273136 0.00001
NM_004415.4(DSP):c.8389A>G (p.Ile2797Val) rs1040353645 0.00001
NM_004415.4(DSP):c.8404C>T (p.Leu2802Phe) rs201271117 0.00001
NM_004415.4(DSP):c.844G>A (p.Glu282Lys) rs397516966 0.00001
NM_004415.4(DSP):c.8476C>T (p.Arg2826Cys) rs139969658 0.00001
NM_004415.4(DSP):c.8495G>T (p.Gly2832Val) rs397516970 0.00001
NM_004415.4(DSP):c.8498C>G (p.Ser2833Cys) rs767961179 0.00001
NM_004415.4(DSP):c.8529T>C (p.Ser2843=) rs780005300 0.00001
NM_004415.4(DSP):c.8566T>A (p.Ser2856Thr) rs148550678 0.00001
NM_004415.4(DSP):c.8606T>C (p.Ile2869Thr) rs1759656543 0.00001
NM_004415.4(DSP):c.917C>G (p.Ala306Gly) rs1758833983 0.00001
NM_004415.4(DSP):c.946A>G (p.Met316Val) rs201672777 0.00001
NM_004415.4(DSP):c.976C>T (p.Leu326Phe) rs117961973 0.00001
NM_004415.4(DSP):c.9C>T (p.Cys3=) rs769032973 0.00001
NC_000006.11:g.(?_7542149)_(7542338_?)dup
NC_000006.11:g.(?_7579782)_(7581194_?)del
NM_004415.4(DSP):c.*203A>G rs1198624922
NM_004415.4(DSP):c.*325A>G rs1759669252
NM_004415.4(DSP):c.*43T>A rs373414877
NM_004415.4(DSP):c.*762G>T rs1759684939
NM_004415.4(DSP):c.-104G>A rs1757981061
NM_004415.4(DSP):c.-70C>T rs1757982573
NM_004415.4(DSP):c.-76C>T rs377133467
NM_004415.4(DSP):c.1027G>A (p.Ala343Thr)
NM_004415.4(DSP):c.1044+3A>C rs765089914
NM_004415.4(DSP):c.1044+3A>G rs765089914
NM_004415.4(DSP):c.1044+5G>T
NM_004415.4(DSP):c.1044G>A (p.Glu348=) rs1758868593
NM_004415.4(DSP):c.1045G>C (p.Ala349Pro)
NM_004415.4(DSP):c.1052T>G (p.Met351Arg)
NM_004415.4(DSP):c.1054G>A (p.Asp352Asn)
NM_004415.4(DSP):c.1056_1061del (p.Asp352_Leu354delinsGlu) rs1758892954
NM_004415.4(DSP):c.1058C>G (p.Thr353Ser)
NM_004415.4(DSP):c.1061T>C (p.Leu354Pro)
NM_004415.4(DSP):c.1061T>G (p.Leu354Arg)
NM_004415.4(DSP):c.1066A>G (p.Thr356Ala)
NM_004415.4(DSP):c.1066A>T (p.Thr356Ser) rs1052446501
NM_004415.4(DSP):c.1067C>A (p.Thr356Lys) rs780626687
NM_004415.4(DSP):c.1067C>T (p.Thr356Met) rs780626687
NM_004415.4(DSP):c.1074G>C (p.Trp358Cys) rs1758893971
NM_004415.4(DSP):c.1084C>T (p.Leu362Phe)
NM_004415.4(DSP):c.1094C>G (p.Thr365Ser) rs754577019
NM_004415.4(DSP):c.1100G>A (p.Cys367Tyr)
NM_004415.4(DSP):c.1102A>G (p.Ile368Val) rs794728112
NM_004415.4(DSP):c.110C>G (p.Thr37Ser)
NM_004415.4(DSP):c.1112A>C (p.His371Pro) rs397516912
NM_004415.4(DSP):c.1112A>G (p.His371Arg) rs397516912
NM_004415.4(DSP):c.1112A>T (p.His371Leu)
NM_004415.4(DSP):c.1115T>C (p.Leu372Pro) rs1758895792
NM_004415.4(DSP):c.1135T>A (p.Phe379Ile) rs757853478
NM_004415.4(DSP):c.1142T>C (p.Phe381Ser) rs1209991251
NM_004415.4(DSP):c.1165G>A (p.Glu389Lys) rs1758909720
NM_004415.4(DSP):c.1181G>C (p.Gly394Ala)
NM_004415.4(DSP):c.1184T>C (p.Leu395Pro)
NM_004415.4(DSP):c.1201A>G (p.Lys401Glu)
NM_004415.4(DSP):c.1216G>A (p.Asp406Asn) rs1758911711
NM_004415.4(DSP):c.123_125dup (p.Tyr42_Ser43insTyr)
NM_004415.4(DSP):c.125A>G (p.Tyr42Cys)
NM_004415.4(DSP):c.1266+3A>G
NM_004415.4(DSP):c.1266+6G>A rs73375345
NM_004415.4(DSP):c.1266G>C (p.Glu422Asp) rs1758913797
NM_004415.4(DSP):c.1274G>T (p.Arg425Leu) rs397516916
NM_004415.4(DSP):c.1282A>G (p.Ile428Val)
NM_004415.4(DSP):c.1308G>C (p.Gln436His) rs1057522715
NM_004415.4(DSP):c.1310A>G (p.Asn437Ser) rs2113674233
NM_004415.4(DSP):c.1331A>C (p.Lys444Thr) rs1554106843
NM_004415.4(DSP):c.1333A>G (p.Ile445Val)
NM_004415.4(DSP):c.1335T>G (p.Ile445Met) rs898213877
NM_004415.4(DSP):c.133C>T (p.Arg45Cys)
NM_004415.4(DSP):c.1350_1351insTTA (p.Pro450_Arg451insLeu) rs1581802595
NM_004415.4(DSP):c.1351C>T (p.Arg451Cys) rs1057518309
NM_004415.4(DSP):c.1352G>A (p.Arg451His) rs786204294
NM_004415.4(DSP):c.1352G>C (p.Arg451Pro)
NM_004415.4(DSP):c.1357C>A (p.Pro453Thr)
NM_004415.4(DSP):c.1372A>T (p.Asn458Tyr)
NM_004415.4(DSP):c.1379C>T (p.Pro460Leu) rs757300149
NM_004415.4(DSP):c.1382T>C (p.Ile461Thr) rs1554106853
NM_004415.4(DSP):c.1392A>C (p.Arg464Ser) rs1403332231
NM_004415.4(DSP):c.1396C>T (p.Leu466Phe)
NM_004415.4(DSP):c.1397T>C (p.Leu466Pro) rs727504661
NM_004415.4(DSP):c.1414G>A (p.Asp472Asn) rs2113674467
NM_004415.4(DSP):c.1420-3C>T rs786204296
NM_004415.4(DSP):c.1435G>C (p.Gly479Arg) rs1288305110
NM_004415.4(DSP):c.1441G>A (p.Glu481Lys) rs1758958794
NM_004415.4(DSP):c.1444T>C (p.Cys482Arg) rs746816016
NM_004415.4(DSP):c.1445G>A (p.Cys482Tyr) rs1472091469
NM_004415.4(DSP):c.1460A>G (p.Asn487Ser)
NM_004415.4(DSP):c.1483G>T (p.Val495Leu) rs372014020
NM_004415.4(DSP):c.1483_1485delinsTTT (p.Val495Phe) rs1064795582
NM_004415.4(DSP):c.1484T>G (p.Val495Gly) rs727504518
NM_004415.4(DSP):c.1487C>G (p.Thr496Arg) rs374283517
NM_004415.4(DSP):c.1492C>G (p.Pro498Ala) rs1581803474
NM_004415.4(DSP):c.1492C>T (p.Pro498Ser) rs1581803474
NM_004415.4(DSP):c.14G>C (p.Gly5Ala) rs1757989474
NM_004415.4(DSP):c.1504G>A (p.Asp502Asn) rs750547425
NM_004415.4(DSP):c.1509G>A (p.Met503Ile)
NM_004415.4(DSP):c.1513G>A (p.Val505Ile)
NM_004415.4(DSP):c.1529T>C (p.Leu510Pro) rs2113675644
NM_004415.4(DSP):c.1548C>G (p.Asn516Lys) rs1407207091
NM_004415.4(DSP):c.1555G>T (p.Ala519Ser) rs2113675699
NM_004415.4(DSP):c.1556C>T (p.Ala519Val) rs1395532173
NM_004415.4(DSP):c.1558G>T (p.Val520Leu) rs777545428
NM_004415.4(DSP):c.1561G>A (p.Asp521Asn) rs1449447405
NM_004415.4(DSP):c.1565T>C (p.Leu522Pro) rs955640904
NM_004415.4(DSP):c.1574+5G>A rs2113675801
NM_004415.4(DSP):c.1574A>G (p.Lys525Arg)
NM_004415.4(DSP):c.1575-4_1575-3del rs1759008080
NM_004415.4(DSP):c.1577T>C (p.Ile526Thr) rs1561689358
NM_004415.4(DSP):c.158C>T (p.Ser53Leu) rs1398517175
NM_004415.4(DSP):c.1603G>C (p.Ala535Pro) rs777088675
NM_004415.4(DSP):c.1615C>A (p.Gln539Lys) rs727504498
NM_004415.4(DSP):c.1619T>C (p.Leu540Pro)
NM_004415.4(DSP):c.1624A>G (p.Ile542Val) rs2113677376
NM_004415.4(DSP):c.162C>G (p.Asp54Glu)
NM_004415.4(DSP):c.1660A>G (p.Met554Val)
NM_004415.4(DSP):c.1670T>C (p.Ile557Thr) rs1759012793
NM_004415.4(DSP):c.1675A>G (p.Lys559Glu)
NM_004415.4(DSP):c.169T>C (p.Cys57Arg)
NM_004415.4(DSP):c.170+15G>A
NM_004415.4(DSP):c.170+2341A>G
NM_004415.4(DSP):c.170+2dup rs2113629250
NM_004415.4(DSP):c.170+5G>A rs727502996
NM_004415.4(DSP):c.170+5G>C rs727502996
NM_004415.4(DSP):c.170+5del rs1554104240
NM_004415.4(DSP):c.170+5dup
NM_004415.4(DSP):c.1700A>G (p.Lys567Arg) rs2113677553
NM_004415.4(DSP):c.1702-13T>A rs771235236
NM_004415.4(DSP):c.1702-16_1702-15delinsCT
NM_004415.4(DSP):c.171-3dup rs1554105600
NM_004415.4(DSP):c.1711A>G (p.Met571Val)
NM_004415.4(DSP):c.1712T>C (p.Met571Thr)
NM_004415.4(DSP):c.1729A>C (p.Met577Leu) rs764127243
NM_004415.4(DSP):c.1737_1738delinsTT (p.Ile580Leu)
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.17G>C (p.Gly6Ala) rs1339636876
NM_004415.4(DSP):c.1815_1820dup (p.Lys607_Ile608insArgLys)
NM_004415.4(DSP):c.1847A>G (p.Gln616Arg)
NM_004415.4(DSP):c.1848G>A (p.Gln616=) rs1215425090
NM_004415.4(DSP):c.1852C>T (p.His618Tyr)
NM_004415.4(DSP):c.1865T>G (p.Leu622Arg) rs1554107098
NM_004415.4(DSP):c.186G>A (p.Met62Ile) rs1758488135
NM_004415.4(DSP):c.1870A>G (p.Ile624Val) rs1759053122
NM_004415.4(DSP):c.1873C>G (p.Gln625Glu) rs876657638
NM_004415.4(DSP):c.1880C>T (p.Pro627Leu) rs2113679213
NM_004415.4(DSP):c.1901C>A (p.Thr634Lys) rs139964486
NM_004415.4(DSP):c.1901C>T (p.Thr634Ile)
NM_004415.4(DSP):c.1902A>G (p.Thr634=) rs1759054491
NM_004415.4(DSP):c.1903+11G>T
NM_004415.4(DSP):c.1903+3C>T rs754326012
NM_004415.4(DSP):c.1903+3del rs1064793548
NM_004415.4(DSP):c.1904T>C (p.Val635Ala)
NM_004415.4(DSP):c.1913C>T (p.Thr638Ile)
NM_004415.4(DSP):c.1945G>A (p.Val649Ile) rs2113679772
NM_004415.4(DSP):c.194A>G (p.His65Arg) rs771190708
NM_004415.4(DSP):c.194A>T (p.His65Leu) rs771190708
NM_004415.4(DSP):c.1950C>A (p.Asn650Lys)
NM_004415.4(DSP):c.1963A>G (p.Ile655Val)
NM_004415.4(DSP):c.1964T>A (p.Ile655Asn)
NM_004415.4(DSP):c.1968A>T (p.Glu656Asp) rs2113679857
NM_004415.4(DSP):c.1970C>A (p.Thr657Asn)
NM_004415.4(DSP):c.1970C>T (p.Thr657Ile) rs1014373689
NM_004415.4(DSP):c.1975A>G (p.Arg659Gly)
NM_004415.4(DSP):c.1976_1987del (p.Arg659_Asp662del) rs1554107128
NM_004415.4(DSP):c.1985A>G (p.Asp662Gly)
NM_004415.4(DSP):c.1993G>A (p.Glu665Lys) rs2113679925
NM_004415.4(DSP):c.1996A>G (p.Thr666Ala)
NM_004415.4(DSP):c.2002A>T (p.Met668Leu)
NM_004415.4(DSP):c.2006T>C (p.Leu669Pro)
NM_004415.4(DSP):c.2012A>G (p.Glu671Gly) rs758530970
NM_004415.4(DSP):c.201C>A (p.Asn67Lys)
NM_004415.4(DSP):c.2023A>T (p.Ile675Phe) rs142619902
NM_004415.4(DSP):c.2042A>G (p.His681Arg)
NM_004415.4(DSP):c.2047G>C (p.Glu683Gln)
NM_004415.4(DSP):c.2050G>T (p.Gly684Cys) rs1759071281
NM_004415.4(DSP):c.2055G>T (p.Arg685Ser)
NM_004415.4(DSP):c.2075C>T (p.Pro692Leu) rs1561690890
NM_004415.4(DSP):c.2080G>A (p.Ala694Thr) rs2113680169
NM_004415.4(DSP):c.2084A>G (p.Asp695Gly) rs2113680188
NM_004415.4(DSP):c.20C>T (p.Ser7Phe)
NM_004415.4(DSP):c.2107A>G (p.Thr703Ala)
NM_004415.4(DSP):c.2119A>G (p.Asn707Asp) rs756272327
NM_004415.4(DSP):c.2124G>T (p.Glu708Asp) rs1759074309
NM_004415.4(DSP):c.2135T>C (p.Val712Ala) rs2113682966
NM_004415.4(DSP):c.2139G>T (p.Gln713His)
NM_004415.4(DSP):c.2146T>G (p.Ser716Ala) rs1759149630
NM_004415.4(DSP):c.2153C>T (p.Ala718Val) rs764290255
NM_004415.4(DSP):c.2161G>A (p.Glu721Lys) rs963374775
NM_004415.4(DSP):c.2164G>T (p.Val722Phe) rs1581808686
NM_004415.4(DSP):c.2176C>G (p.Leu726Val) rs1759151851
NM_004415.4(DSP):c.2188C>T (p.Leu730Phe) rs2113683126
NM_004415.4(DSP):c.2196C>G (p.Asn732Lys) rs1424884336
NM_004415.4(DSP):c.2197T>C (p.Phe733Leu)
NM_004415.4(DSP):c.2199C>G (p.Phe733Leu) rs1306942907
NM_004415.4(DSP):c.2201G>A (p.Arg734Lys) rs1561692443
NM_004415.4(DSP):c.2204G>A (p.Gly735Asp)
NM_004415.4(DSP):c.2204G>T (p.Gly735Val) rs1759154089
NM_004415.4(DSP):c.2234A>C (p.Glu745Ala) rs969462343
NM_004415.4(DSP):c.2259G>A (p.Leu753=) rs1759156637
NM_004415.4(DSP):c.2275G>T (p.Val759Phe)
NM_004415.4(DSP):c.227A>G (p.Gln76Arg) rs1581790962
NM_004415.4(DSP):c.2297+5A>G
NM_004415.4(DSP):c.2301A>C (p.Leu767Phe) rs1759176601
NM_004415.4(DSP):c.2314G>C (p.Ala772Pro) rs766440842
NM_004415.4(DSP):c.2317C>G (p.Leu773Val)
NM_004415.4(DSP):c.2321T>A (p.Leu774His)
NM_004415.4(DSP):c.232T>G (p.Cys78Gly) rs1758490063
NM_004415.4(DSP):c.2333T>C (p.Leu778Pro) rs1337668206
NM_004415.4(DSP):c.2338A>G (p.Thr780Ala)
NM_004415.4(DSP):c.2344G>T (p.Asp782Tyr) rs2113684062
NM_004415.4(DSP):c.2360A>C (p.Tyr787Ser) rs778350289
NM_004415.4(DSP):c.238G>A (p.Asp80Asn) rs1453492594
NM_004415.4(DSP):c.2404G>A (p.Asp802Asn) rs770105310
NM_004415.4(DSP):c.2404G>C (p.Asp802His)
NM_004415.4(DSP):c.2408A>C (p.Lys803Thr) rs1759183296
NM_004415.4(DSP):c.2411T>C (p.Val804Ala)
NM_004415.4(DSP):c.242G>T (p.Cys81Phe) rs140965835
NM_004415.4(DSP):c.2432T>C (p.Leu811Pro) rs869025391
NM_004415.4(DSP):c.2432T>G (p.Leu811Arg) rs869025391
NM_004415.4(DSP):c.2435A>T (p.Lys812Met) rs1268969488
NM_004415.4(DSP):c.2436+6T>C
NM_004415.4(DSP):c.2436G>A (p.Lys812=)
NM_004415.4(DSP):c.2437A>C (p.Lys813Gln) rs1395903631
NM_004415.4(DSP):c.2437A>G (p.Lys813Glu) rs1395903631
NM_004415.4(DSP):c.2441T>C (p.Ile814Thr) rs1393048121
NM_004415.4(DSP):c.248T>C (p.Met83Thr) rs2113653951
NM_004415.4(DSP):c.2504C>T (p.Ala835Val)
NM_004415.4(DSP):c.2507A>G (p.Gln836Arg) rs1554107616
NM_004415.4(DSP):c.250C>G (p.Arg84Gly) rs768521444
NM_004415.4(DSP):c.2511G>C (p.Gln837His) rs2113685122
NM_004415.4(DSP):c.2548G>A (p.Asp850Asn) rs1554107626
NM_004415.4(DSP):c.2564A>T (p.Lys855Met) rs2113685253
NM_004415.4(DSP):c.2570G>A (p.Gly857Asp)
NM_004415.4(DSP):c.2572G>A (p.Glu858Lys) rs1759209717
NM_004415.4(DSP):c.2582C>T (p.Thr861Ile) rs1759210367
NM_004415.4(DSP):c.2596C>A (p.Arg866Ser) rs142429411
NM_004415.4(DSP):c.2606G>A (p.Arg869Lys)
NM_004415.4(DSP):c.2608A>T (p.Ile870Leu) rs1561693971
NM_004415.4(DSP):c.2611G>A (p.Asp871Asn)
NM_004415.4(DSP):c.2623G>A (p.Asp875Asn) rs200338012
NM_004415.4(DSP):c.2628T>G (p.Phe876Leu)
NM_004415.4(DSP):c.262A>G (p.Ile88Val) rs1581791030
NM_004415.4(DSP):c.2630+5G>C
NM_004415.4(DSP):c.2631-13dup rs1455610668
NM_004415.4(DSP):c.2631-3C>T rs1041054817
NM_004415.4(DSP):c.2631-6C>G rs1759237205
NM_004415.4(DSP):c.2650C>G (p.Gln884Glu)
NM_004415.4(DSP):c.2665A>G (p.Arg889Gly)
NM_004415.4(DSP):c.2680A>T (p.Asn894Tyr) rs1060500614
NM_004415.4(DSP):c.2695T>C (p.Cys899Arg) rs2113686590
NM_004415.4(DSP):c.2700G>T (p.Lys900Asn)
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.2719C>A (p.Arg907Ser) rs749051278
NM_004415.4(DSP):c.273+10_273+11insGTGCAG
NM_004415.4(DSP):c.274-3C>G rs794729638
NM_004415.4(DSP):c.274-8_274-7delinsAT rs1561680554
NM_004415.4(DSP):c.2744T>A (p.Met915Lys) rs750869761
NM_004415.4(DSP):c.2758T>C (p.Ser920Pro) rs373804924
NM_004415.4(DSP):c.2759C>T (p.Ser920Phe) rs1481929065
NM_004415.4(DSP):c.2765C>T (p.Thr922Ile) rs755099716
NM_004415.4(DSP):c.2772G>T (p.Met924Ile)
NM_004415.4(DSP):c.2777T>C (p.Phe926Ser)
NM_004415.4(DSP):c.2789A>C (p.Gln930Pro)
NM_004415.4(DSP):c.2790G>C (p.Gln930His) rs2113686814
NM_004415.4(DSP):c.2794-17T>G
NM_004415.4(DSP):c.279G>C (p.Leu93Phe) rs1447901875
NM_004415.4(DSP):c.2818A>G (p.Lys940Glu) rs2113687560
NM_004415.4(DSP):c.2821C>G (p.Arg941Gly) rs730880082
NM_004415.4(DSP):c.2825A>T (p.Asp942Val)
NM_004415.4(DSP):c.284A>T (p.Tyr95Phe)
NM_004415.4(DSP):c.2867A>G (p.Asn956Ser)
NM_004415.4(DSP):c.286G>A (p.Gly96Arg) rs2113657461
NM_004415.4(DSP):c.2877+6T>A rs1331983690
NM_004415.4(DSP):c.2879A>G (p.Asp960Gly)
NM_004415.4(DSP):c.2887C>T (p.Leu963Phe) rs779931043
NM_004415.4(DSP):c.2893C>G (p.Leu965Val) rs1239813518
NM_004415.4(DSP):c.2894T>C (p.Leu965Pro) rs1581813405
NM_004415.4(DSP):c.289G>A (p.Asp97Asn)
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.2948C>T (p.Thr983Ile) rs1040862892
NM_004415.4(DSP):c.2950A>G (p.Met984Val) rs868110541
NM_004415.4(DSP):c.2963C>T (p.Pro988Leu) rs2113689067
NM_004415.4(DSP):c.2986-3A>C
NM_004415.4(DSP):c.2986G>T (p.Ala996Ser) rs1254054471
NM_004415.4(DSP):c.2990C>T (p.Ala997Val)
NM_004415.4(DSP):c.2998_3012del (p.His1000_Ile1004del)
NM_004415.4(DSP):c.3005G>C (p.Arg1002Pro) rs371234425
NM_004415.4(DSP):c.3010A>G (p.Ile1004Val) rs1561696251
NM_004415.4(DSP):c.3019C>T (p.Leu1007Phe) rs1018173692
NM_004415.4(DSP):c.3023C>T (p.Thr1008Ile) rs1334187363
NM_004415.4(DSP):c.3026G>T (p.Arg1009Ile) rs1759318084
NM_004415.4(DSP):c.3046T>G (p.Phe1016Val) rs1561696335
NM_004415.4(DSP):c.304A>C (p.Thr102Pro)
NM_004415.4(DSP):c.3068G>A (p.Ser1023Asn) rs2113690096
NM_004415.4(DSP):c.3070T>G (p.Leu1024Val) rs1474315262
NM_004415.4(DSP):c.307C>G (p.Arg103Gly)
NM_004415.4(DSP):c.3080T>C (p.Leu1027Pro)
NM_004415.4(DSP):c.3102C>G (p.Ile1034Met) rs569974617
NM_004415.4(DSP):c.3103G>A (p.Glu1035Lys) rs760307890
NM_004415.4(DSP):c.3134G>C (p.Arg1045Pro) rs374263890
NM_004415.4(DSP):c.3140C>T (p.Ala1047Val) rs397516931
NM_004415.4(DSP):c.3144C>G (p.Asn1048Lys)
NM_004415.4(DSP):c.3157A>G (p.Asn1053Asp)
NM_004415.4(DSP):c.3163A>G (p.Asn1055Asp)
NM_004415.4(DSP):c.3184C>A (p.Leu1062Met) rs2113691218
NM_004415.4(DSP):c.3190A>G (p.Lys1064Glu) rs1383448057
NM_004415.4(DSP):c.31A>G (p.Ile11Val)
NM_004415.4(DSP):c.3230C>T (p.Ala1077Val) rs1257696096
NM_004415.4(DSP):c.3238G>A (p.Glu1080Lys) rs1759345464
NM_004415.4(DSP):c.3243G>T (p.Glu1081Asp)
NM_004415.4(DSP):c.3259G>A (p.Glu1087Lys) rs1561697118
NM_004415.4(DSP):c.3263T>C (p.Leu1088Pro)
NM_004415.4(DSP):c.328T>C (p.Cys110Arg) rs1554105823
NM_004415.4(DSP):c.3296A>G (p.Lys1099Arg)
NM_004415.4(DSP):c.3298T>C (p.Cys1100Arg) rs757539604
NM_004415.4(DSP):c.3298T>G (p.Cys1100Gly) rs757539604
NM_004415.4(DSP):c.3310A>C (p.Ile1104Leu)
NM_004415.4(DSP):c.3310A>T (p.Ile1104Leu) rs2113691466
NM_004415.4(DSP):c.3312A>G (p.Ile1104Met)
NM_004415.4(DSP):c.3319C>T (p.Leu1107Phe) rs1759348638
NM_004415.4(DSP):c.3325G>A (p.Glu1109Lys) rs367763339
NM_004415.4(DSP):c.3340C>A (p.Leu1114Met)
NM_004415.4(DSP):c.3344C>T (p.Thr1115Ile) rs1393151720
NM_004415.4(DSP):c.3346_3354del (p.Tyr1116_Ile1118del)
NM_004415.4(DSP):c.3368GAA[2] (p.Arg1125del) rs1405952840
NM_004415.4(DSP):c.3371G>A (p.Arg1124Lys)
NM_004415.4(DSP):c.3389A>G (p.Asp1130Gly) rs886061746
NM_004415.4(DSP):c.3399C>G (p.Asp1133Glu)
NM_004415.4(DSP):c.3401A>C (p.Gln1134Pro) rs2113691687
NM_004415.4(DSP):c.3404A>C (p.Gln1135Pro) rs754250788
NM_004415.4(DSP):c.3408_3409delinsAG (p.Asn1137Asp) rs1759352206
NM_004415.4(DSP):c.3423A>C (p.Gln1141His) rs759288257
NM_004415.4(DSP):c.3458T>G (p.Leu1153Arg) rs1554108085
NM_004415.4(DSP):c.3465G>C (p.Trp1155Cys) rs1759354150
NM_004415.4(DSP):c.3469A>C (p.Lys1157Gln) rs1759354483
NM_004415.4(DSP):c.346G>A (p.Asp116Asn)
NM_004415.4(DSP):c.3485A>C (p.Lys1162Thr)
NM_004415.4(DSP):c.3492C>G (p.Ile1164Met) rs1561697488
NM_004415.4(DSP):c.3497A>G (p.Glu1166Gly) rs2113691892
NM_004415.4(DSP):c.3499_3501del (p.Lys1167del) rs1554108091
NM_004415.4(DSP):c.3504G>T (p.Glu1168Asp) rs1490403808
NM_004415.4(DSP):c.3505T>A (p.Tyr1169Asn) rs2113691917
NM_004415.4(DSP):c.3508G>A (p.Glu1170Lys) rs139582608
NM_004415.4(DSP):c.3508G>C (p.Glu1170Gln)
NM_004415.4(DSP):c.350A>G (p.Gln117Arg)
NM_004415.4(DSP):c.3518G>T (p.Arg1173Met)
NM_004415.4(DSP):c.3524G>A (p.Arg1175Lys) rs1759357066
NM_004415.4(DSP):c.3526G>A (p.Val1176Ile)
NM_004415.4(DSP):c.3527T>C (p.Val1176Ala) rs1759357469
NM_004415.4(DSP):c.3538G>A (p.Glu1180Lys)
NM_004415.4(DSP):c.3548C>T (p.Thr1183Ile)
NM_004415.4(DSP):c.3555G>C (p.Lys1185Asn)
NM_004415.4(DSP):c.3559G>A (p.Glu1187Lys) rs1759359375
NM_004415.4(DSP):c.3565G>A (p.Glu1189Lys) rs866149042
NM_004415.4(DSP):c.3573G>T (p.Glu1191Asp) rs750659892
NM_004415.4(DSP):c.3574C>G (p.Leu1192Val) rs1554108118
NM_004415.4(DSP):c.3578C>A (p.Ala1193Glu)
NM_004415.4(DSP):c.3596A>G (p.Tyr1199Cys)
NM_004415.4(DSP):c.35A>G (p.Asn12Ser) rs1239489755
NM_004415.4(DSP):c.3608T>C (p.Met1203Thr)
NM_004415.4(DSP):c.3609_3610delinsAG (p.Met1203_Ser1204delinsIleGly) rs1759361326
NM_004415.4(DSP):c.3616T>G (p.Leu1206Val) rs151115778
NM_004415.4(DSP):c.3629A>G (p.Tyr1210Cys)
NM_004415.4(DSP):c.3667G>A (p.Glu1223Lys)
NM_004415.4(DSP):c.3680A>C (p.Gln1227Pro) rs1458557680
NM_004415.4(DSP):c.3684A>T (p.Lys1228Asn)
NM_004415.4(DSP):c.3687_3689dup (p.Glu1229dup) rs1561697838
NM_004415.4(DSP):c.3692A>C (p.Asp1231Ala) rs1581816117
NM_004415.4(DSP):c.36C>T (p.Asn12=) rs886061744
NM_004415.4(DSP):c.3712C>A (p.Gln1238Lys) rs767519046
NM_004415.4(DSP):c.3712C>G (p.Gln1238Glu) rs767519046
NM_004415.4(DSP):c.3720T>A (p.Asp1240Glu) rs1759365530
NM_004415.4(DSP):c.3725T>C (p.Leu1242Pro) rs1759365693
NM_004415.4(DSP):c.3730A>G (p.Arg1244Gly) rs2113692494
NM_004415.4(DSP):c.3742G>C (p.Asp1248His) rs989348634
NM_004415.4(DSP):c.3763A>G (p.Arg1255Gly) rs1477870659
NM_004415.4(DSP):c.3764G>A (p.Arg1255Lys) rs777407386
NM_004415.4(DSP):c.3770A>G (p.Asn1257Ser) rs1561697968
NM_004415.4(DSP):c.3775A>G (p.Ser1259Gly) rs770172294
NM_004415.4(DSP):c.3778A>T (p.Ile1260Phe)
NM_004415.4(DSP):c.3788C>A (p.Ala1263Asp) rs1359308406
NM_004415.4(DSP):c.3788C>T (p.Ala1263Val)
NM_004415.4(DSP):c.3794A>G (p.Glu1265Gly)
NM_004415.4(DSP):c.37A>G (p.Thr13Ala)
NM_004415.4(DSP):c.3806G>A (p.Arg1269Gln) rs876657795
NM_004415.4(DSP):c.3811G>A (p.Glu1271Lys) rs2113692719
NM_004415.4(DSP):c.3815A>G (p.Glu1272Gly)
NM_004415.4(DSP):c.3820G>C (p.Ala1274Pro) rs1285435504
NM_004415.4(DSP):c.3820G>T (p.Ala1274Ser) rs1285435504
NM_004415.4(DSP):c.3842G>A (p.Gly1281Asp) rs757029634
NM_004415.4(DSP):c.3845C>T (p.Ser1282Phe) rs778780656
NM_004415.4(DSP):c.3854T>G (p.Met1285Arg) rs1759372184
NM_004415.4(DSP):c.3864G>T (p.Lys1288Asn) rs768166626
NM_004415.4(DSP):c.3880G>A (p.Glu1294Lys)
NM_004415.4(DSP):c.3896T>C (p.Met1299Thr) rs1432542467
NM_004415.4(DSP):c.3897G>C (p.Met1299Ile) rs2113692906
NM_004415.4(DSP):c.389A>G (p.Gln130Arg)
NM_004415.4(DSP):c.3902A>T (p.Gln1301Leu) rs2113692916
NM_004415.4(DSP):c.3919_3920delinsTT (p.Ala1307Phe)
NM_004415.4(DSP):c.3923G>T (p.Arg1308Leu) rs184154918
NM_004415.4(DSP):c.3932A>C (p.Gln1311Pro)
NM_004415.4(DSP):c.3934T>C (p.Ser1312Pro)
NM_004415.4(DSP):c.394G>A (p.Gly132Ser) rs1064796573
NM_004415.4(DSP):c.3953A>G (p.Lys1318Arg)
NM_004415.4(DSP):c.3956C>T (p.Thr1319Ile) rs138599871
NM_004415.4(DSP):c.3958A>G (p.Ile1320Val)
NM_004415.4(DSP):c.3964G>A (p.Asp1322Asn) rs1759376700
NM_004415.4(DSP):c.3971A>G (p.Asn1324Ser)
NM_004415.4(DSP):c.397C>G (p.Gln133Glu)
NM_004415.4(DSP):c.3982G>C (p.Glu1328Gln) rs746208168
NM_004415.4(DSP):c.3997G>A (p.Glu1333Lys) rs2113693124
NM_004415.4(DSP):c.4002T>G (p.Phe1334Leu) rs1759378577
NM_004415.4(DSP):c.4013C>A (p.Ala1338Asp) rs2113693177
NM_004415.4(DSP):c.4016A>G (p.Lys1339Arg) rs1759379431
NM_004415.4(DSP):c.4034A>C (p.Glu1345Ala) rs201964660
NM_004415.4(DSP):c.4034A>G (p.Glu1345Gly) rs201964660
NM_004415.4(DSP):c.4042C>G (p.Leu1348Val)
NM_004415.4(DSP):c.4055G>A (p.Arg1352Lys) rs757808893
NM_004415.4(DSP):c.4069GAG[1] (p.Glu1358del) rs777457799
NM_004415.4(DSP):c.4071G>C (p.Glu1357Asp) rs569786610
NM_004415.4(DSP):c.4072G>A (p.Glu1358Lys)
NM_004415.4(DSP):c.4077C>G (p.Ile1359Met)
NM_004415.4(DSP):c.4090A>C (p.Asn1364His)
NM_004415.4(DSP):c.4099G>A (p.Glu1367Lys) rs1759383897
NM_004415.4(DSP):c.4107_4108delinsTG (p.Glu1369_Ile1370delinsAspVal) rs1759384287
NM_004415.4(DSP):c.4109T>A (p.Ile1370Asn) rs1759384359
NM_004415.4(DSP):c.4130T>A (p.Ile1377Asn) rs1215591946
NM_004415.4(DSP):c.4145T>C (p.Met1382Thr)
NM_004415.4(DSP):c.416A>T (p.Gln139Leu) rs1385183881
NM_004415.4(DSP):c.4172A>C (p.Tyr1391Ser) rs727504547
NM_004415.4(DSP):c.418A>G (p.Lys140Glu)
NM_004415.4(DSP):c.4195A>G (p.Thr1399Ala) rs1561698547
NM_004415.4(DSP):c.4202A>T (p.Glu1401Val) rs1759389046
NM_004415.4(DSP):c.4204A>G (p.Asn1402Asp)
NM_004415.4(DSP):c.4216T>C (p.Ser1406Pro)
NM_004415.4(DSP):c.422+3A>G rs1758564707
NM_004415.4(DSP):c.4226_4228del (p.Ile1409del) rs746639284
NM_004415.4(DSP):c.422G>A (p.Arg141Lys)
NM_004415.4(DSP):c.422G>C (p.Arg141Thr) rs969373062
NM_004415.4(DSP):c.423-6T>G
NM_004415.4(DSP):c.4233G>T (p.Arg1411Ser) rs771721410
NM_004415.4(DSP):c.423G>T (p.Arg141Ser)
NM_004415.4(DSP):c.4261G>A (p.Glu1421Lys) rs769965019
NM_004415.4(DSP):c.4267C>A (p.Leu1423Ile)
NM_004415.4(DSP):c.4276G>A (p.Val1426Met) rs1759393186
NM_004415.4(DSP):c.4289T>C (p.Ile1430Thr)
NM_004415.4(DSP):c.428T>C (p.Leu143Pro) rs746545985
NM_004415.4(DSP):c.4293A>T (p.Gln1431His)
NM_004415.4(DSP):c.4304C>T (p.Ala1435Val) rs1164622831
NM_004415.4(DSP):c.4337A>G (p.Gln1446Arg)
NM_004415.4(DSP):c.4351C>G (p.Leu1451Val)
NM_004415.4(DSP):c.4352T>C (p.Leu1451Pro) rs1554108296
NM_004415.4(DSP):c.4360G>A (p.Val1454Ile)
NM_004415.4(DSP):c.4369A>T (p.Met1457Leu)
NM_004415.4(DSP):c.4371G>C (p.Met1457Ile) rs1169630255
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.4396A>G (p.Lys1466Glu) rs1561698838
NM_004415.4(DSP):c.439G>C (p.Glu147Gln)
NM_004415.4(DSP):c.4409A>G (p.Asp1470Gly)
NM_004415.4(DSP):c.4415C>A (p.Ala1472Asp) rs1272181488
NM_004415.4(DSP):c.4415C>T (p.Ala1472Val)
NM_004415.4(DSP):c.441G>C (p.Glu147Asp)
NM_004415.4(DSP):c.4426A>G (p.Ile1476Val)
NM_004415.4(DSP):c.4445A>C (p.Glu1482Ala)
NM_004415.4(DSP):c.4449A>G (p.Ile1483Met) rs1308817559
NM_004415.4(DSP):c.4451A>G (p.Glu1484Gly)
NM_004415.4(DSP):c.4468A>G (p.Ile1490Val)
NM_004415.4(DSP):c.4472A>G (p.Asp1491Gly) rs397516938
NM_004415.4(DSP):c.44G>A (p.Gly15Asp) rs1265161836
NM_004415.4(DSP):c.4501G>A (p.Glu1501Lys)
NM_004415.4(DSP):c.4502A>G (p.Glu1501Gly) rs1759403946
NM_004415.4(DSP):c.4514C>A (p.Ala1505Glu)
NM_004415.4(DSP):c.4521A>T (p.Leu1507Phe) rs1060500611
NM_004415.4(DSP):c.4523A>G (p.Gln1508Arg) rs1759404972
NM_004415.4(DSP):c.4527_4559del (p.Arg1509_Ser1519del) rs397516939
NM_004415.4(DSP):c.4532A>G (p.Gln1511Arg)
NM_004415.4(DSP):c.4533G>C (p.Gln1511His) rs2113694339
NM_004415.4(DSP):c.4539C>A (p.Asp1513Glu) rs1759406088
NM_004415.4(DSP):c.4541T>C (p.Leu1514Pro) rs1173680775
NM_004415.4(DSP):c.4552A>G (p.Asn1518Asp)
NM_004415.4(DSP):c.4558A>G (p.Ser1520Gly) rs780953141
NM_004415.4(DSP):c.4564A>T (p.Thr1522Ser) rs1759406838
NM_004415.4(DSP):c.4571C>A (p.Thr1524Lys) rs397516941
NM_004415.4(DSP):c.4571C>T (p.Thr1524Ile) rs397516941
NM_004415.4(DSP):c.458A>G (p.Tyr153Cys) rs1758601898
NM_004415.4(DSP):c.4593G>C (p.Gln1531His)
NM_004415.4(DSP):c.4595A>G (p.Glu1532Gly) rs1759408509
NM_004415.4(DSP):c.4625A>C (p.Tyr1542Ser)
NM_004415.4(DSP):c.4628A>G (p.Glu1543Gly)
NM_004415.4(DSP):c.4629A>C (p.Glu1543Asp) rs1759410036
NM_004415.4(DSP):c.4647G>C (p.Arg1549Ser) rs2113694603
NM_004415.4(DSP):c.4648A>G (p.Thr1550Ala) rs375917565
NM_004415.4(DSP):c.4649C>G (p.Thr1550Ser) rs928167721
NM_004415.4(DSP):c.466A>C (p.Ile156Leu)
NM_004415.4(DSP):c.4672C>T (p.Arg1558Trp)
NM_004415.4(DSP):c.4679A>G (p.Gln1560Arg) rs796530013
NM_004415.4(DSP):c.4683C>G (p.Asn1561Lys)
NM_004415.4(DSP):c.4685C>G (p.Ser1562Cys)
NM_004415.4(DSP):c.4712A>C (p.Gln1571Pro)
NM_004415.4(DSP):c.4750G>T (p.Ala1584Ser) rs191778417
NM_004415.4(DSP):c.4751C>T (p.Ala1584Val)
NM_004415.4(DSP):c.475C>T (p.Pro159Ser) rs1758602932
NM_004415.4(DSP):c.4763_4765del (p.Ser1588del) rs1010996982
NM_004415.4(DSP):c.4766G>T (p.Cys1589Phe)
NM_004415.4(DSP):c.4769A>G (p.Lys1590Arg) rs2113694864
NM_004415.4(DSP):c.476C>G (p.Pro159Arg)
NM_004415.4(DSP):c.4780C>G (p.Leu1594Val) rs149463707
NM_004415.4(DSP):c.4786G>A (p.Glu1596Lys)
NM_004415.4(DSP):c.47G>C (p.Arg16Pro) rs752387234
NM_004415.4(DSP):c.4820A>G (p.Glu1607Gly) rs1364445729
NM_004415.4(DSP):c.4826C>A (p.Ala1609Asp)
NM_004415.4(DSP):c.4835T>C (p.Ile1612Thr) rs1581818435
NM_004415.4(DSP):c.4837A>T (p.Thr1613Ser)
NM_004415.4(DSP):c.4847C>T (p.Thr1616Ile) rs1759419853
NM_004415.4(DSP):c.484C>G (p.Arg162Gly) rs760711308
NM_004415.4(DSP):c.485G>A (p.Arg162His) rs397516944
NM_004415.4(DSP):c.4868C>G (p.Ser1623Cys) rs908086952
NM_004415.4(DSP):c.4870A>G (p.Ile1624Val)
NM_004415.4(DSP):c.4886G>A (p.Ser1629Asn)
NM_004415.4(DSP):c.4888G>A (p.Glu1630Lys) rs2113695154
NM_004415.4(DSP):c.4893T>G (p.Asp1631Glu) rs775633446
NM_004415.4(DSP):c.4894G>A (p.Asp1632Asn) rs747279731
NM_004415.4(DSP):c.4900C>T (p.Arg1634Trp) rs973569441
NM_004415.4(DSP):c.4901G>T (p.Arg1634Leu) rs144106775
NM_004415.4(DSP):c.4916T>C (p.Val1639Ala)
NM_004415.4(DSP):c.4946G>A (p.Arg1649Lys) rs2113695278
NM_004415.4(DSP):c.4948A>G (p.Thr1650Ala) rs2113695282
NM_004415.4(DSP):c.494G>A (p.Ser165Asn)
NM_004415.4(DSP):c.4954G>C (p.Glu1652Gln) rs267601119
NM_004415.4(DSP):c.4973C>T (p.Ser1658Phe) rs202084959
NM_004415.4(DSP):c.497C>T (p.Ser166Phe) rs1060500620
NM_004415.4(DSP):c.4999C>A (p.Gln1667Lys)
NM_004415.4(DSP):c.5006T>C (p.Leu1669Pro) rs776712810
NM_004415.4(DSP):c.5037C>G (p.His1679Gln)
NM_004415.4(DSP):c.505G>A (p.Gly169Ser) rs1184706017
NM_004415.4(DSP):c.5064G>A (p.Ala1688=) rs886061747
NM_004415.4(DSP):c.5065A>C (p.Ile1689Leu) rs1043797322
NM_004415.4(DSP):c.506G>A (p.Gly169Asp) rs1758605175
NM_004415.4(DSP):c.5075_5080del (p.Lys1692_Ser1693del)
NM_004415.4(DSP):c.5090A>T (p.Asn1697Ile) rs2113695564
NM_004415.4(DSP):c.50T>C (p.Met17Thr) rs559248100
NM_004415.4(DSP):c.5101A>G (p.Ile1701Val) rs794728154
NM_004415.4(DSP):c.5107A>G (p.Ile1703Val) rs868035157
NM_004415.4(DSP):c.5108T>A (p.Ile1703Asn) rs794728123
NM_004415.4(DSP):c.5110G>A (p.Glu1704Lys) rs1312263432
NM_004415.4(DSP):c.5114G>T (p.Arg1705Met) rs1554108448
NM_004415.4(DSP):c.5123C>G (p.Ser1708Cys) rs372452104
NM_004415.4(DSP):c.512_513delinsAA (p.Gly171Glu) rs1758605814
NM_004415.4(DSP):c.5161GAA[2] (p.Glu1723del) rs730880091
NM_004415.4(DSP):c.5171T>C (p.Leu1724Pro) rs2113695726
NM_004415.4(DSP):c.5174G>A (p.Arg1725Gln) rs1759434677
NM_004415.4(DSP):c.5188G>A (p.Glu1730Lys) rs794727382
NM_004415.4(DSP):c.5212C>G (p.Arg1738Gly) rs794728124
NM_004415.4(DSP):c.5227A>G (p.Ser1743Gly) rs1759437499
NM_004415.4(DSP):c.5245A>G (p.Ile1749Val) rs1279085997
NM_004415.4(DSP):c.5249T>G (p.Leu1750Trp) rs1759438511
NM_004415.4(DSP):c.526A>G (p.Ser176Gly) rs1426245453
NM_004415.4(DSP):c.5283C>A (p.Asn1761Lys) rs763355815
NM_004415.4(DSP):c.5303G>T (p.Gly1768Val) rs2113696049
NM_004415.4(DSP):c.5305C>A (p.Leu1769Met) rs946445410
NM_004415.4(DSP):c.5308A>G (p.Ile1770Val) rs2113696065
NM_004415.4(DSP):c.5309T>C (p.Ile1770Thr)
NM_004415.4(DSP):c.5318T>C (p.Leu1773Ser) rs2113696090
NM_004415.4(DSP):c.5322G>C (p.Gln1774His)
NM_004415.4(DSP):c.5327A>G (p.Glu1776Gly) rs1363204936
NM_004415.4(DSP):c.535G>A (p.Gly179Ser) rs774829433
NM_004415.4(DSP):c.5363A>C (p.Gln1788Pro) rs139673146
NM_004415.4(DSP):c.5371G>A (p.Ala1791Thr) rs2113696199
NM_004415.4(DSP):c.5380-1G>C rs1759474600
NM_004415.4(DSP):c.5384C>A (p.Ser1795Tyr)
NM_004415.4(DSP):c.5391G>A (p.Arg1797=) rs778745098
NM_004415.4(DSP):c.5414G>T (p.Cys1805Phe) rs768161038
NM_004415.4(DSP):c.5439G>C (p.Glu1813Asp) rs1759477469
NM_004415.4(DSP):c.5441G>A (p.Ser1814Asn) rs730880085
NM_004415.4(DSP):c.5442C>A (p.Ser1814Arg) rs2113697874
NM_004415.4(DSP):c.5483G>C (p.Arg1828Thr)
NM_004415.4(DSP):c.5489A>T (p.Gln1830Leu)
NM_004415.4(DSP):c.5512C>T (p.Arg1838Cys) rs756481791
NM_004415.4(DSP):c.5513G>T (p.Arg1838Leu) rs377715841
NM_004415.4(DSP):c.5516C>T (p.Ala1839Val)
NM_004415.4(DSP):c.5521T>C (p.Ser1841Pro)
NM_004415.4(DSP):c.5538A>C (p.Glu1846Asp)
NM_004415.4(DSP):c.5544G>A (p.Arg1848=) rs727503004
NM_004415.4(DSP):c.5548A>C (p.Lys1850Gln)
NM_004415.4(DSP):c.5555G>T (p.Arg1852Leu)
NM_004415.4(DSP):c.5560G>C (p.Glu1854Gln)
NM_004415.4(DSP):c.5563T>C (p.Cys1855Arg) rs1453126950
NM_004415.4(DSP):c.557A>G (p.His186Arg) rs1033990351
NM_004415.4(DSP):c.557A>T (p.His186Leu) rs1033990351
NM_004415.4(DSP):c.5584A>T (p.Asn1862Tyr) rs2113698216
NM_004415.4(DSP):c.5587G>A (p.Asp1863Asn)
NM_004415.4(DSP):c.5590C>A (p.Leu1864Met)
NM_004415.4(DSP):c.5609A>G (p.Gln1870Arg)
NM_004415.4(DSP):c.5618G>T (p.Arg1873Leu) rs776088292
NM_004415.4(DSP):c.5620A>G (p.Lys1874Glu)
NM_004415.4(DSP):c.5633T>C (p.Ile1878Thr) rs1581820615
NM_004415.4(DSP):c.5635A>G (p.Arg1879Gly) rs1759488201
NM_004415.4(DSP):c.5642T>C (p.Ile1881Thr) rs1192963820
NM_004415.4(DSP):c.5659A>G (p.Lys1887Glu)
NM_004415.4(DSP):c.5664T>A (p.Ser1888Arg)
NM_004415.4(DSP):c.5673GAA[1] (p.Lys1892del)
NM_004415.4(DSP):c.5674A>G (p.Lys1892Glu)
NM_004415.4(DSP):c.5678A>G (p.Asn1893Ser) rs2113698496
NM_004415.4(DSP):c.5680A>C (p.Ser1894Arg)
NM_004415.4(DSP):c.5681G>C (p.Ser1894Thr)
NM_004415.4(DSP):c.5683C>G (p.Leu1895Val) rs1159494439
NM_004415.4(DSP):c.5688_5690del (p.Arg1896del) rs1561701244
NM_004415.4(DSP):c.568G>A (p.Glu190Lys) rs1758608184
NM_004415.4(DSP):c.5697C>G (p.Ile1899Met)
NM_004415.4(DSP):c.56G>A (p.Arg19His) rs1757992558
NM_004415.4(DSP):c.5738G>C (p.Cys1913Ser) rs755250746
NM_004415.4(DSP):c.5743C>T (p.Arg1915Cys) rs1461028383
NM_004415.4(DSP):c.5765G>A (p.Arg1922Lys) rs1235630592
NM_004415.4(DSP):c.5767G>C (p.Glu1923Gln) rs397516948
NM_004415.4(DSP):c.576G>A (p.Leu192=) rs1758608540
NM_004415.4(DSP):c.576G>T (p.Leu192Phe) rs1758608540
NM_004415.4(DSP):c.5789C>G (p.Thr1930Arg) rs794728126
NM_004415.4(DSP):c.5821A>G (p.Lys1941Glu) rs794728127
NM_004415.4(DSP):c.5828G>T (p.Arg1943Ile)
NM_004415.4(DSP):c.5869T>C (p.Cys1957Arg) rs2113698961
NM_004415.4(DSP):c.5874G>C (p.Glu1958Asp)
NM_004415.4(DSP):c.5887A>G (p.Thr1963Ala)
NM_004415.4(DSP):c.5896C>G (p.Leu1966Val) rs1554108700
NM_004415.4(DSP):c.5918A>G (p.Lys1973Arg) rs376397314
NM_004415.4(DSP):c.5920A>G (p.Lys1974Glu) rs1561701683
NM_004415.4(DSP):c.5922G>C (p.Lys1974Asn) rs193059393
NM_004415.4(DSP):c.5924T>C (p.Val1975Ala) rs1759505693
NM_004415.4(DSP):c.5933T>C (p.Met1978Thr) rs1322656621
NM_004415.4(DSP):c.5942A>G (p.Tyr1981Cys) rs1085307622
NM_004415.4(DSP):c.596G>T (p.Arg199Met)
NM_004415.4(DSP):c.597+2_597+5dup rs765558005
NM_004415.4(DSP):c.597+4A>C
NM_004415.4(DSP):c.5978A>G (p.Lys1993Arg) rs1561701766
NM_004415.4(DSP):c.5G>C (p.Ser2Thr)
NM_004415.4(DSP):c.6010G>C (p.Val2004Leu)
NM_004415.4(DSP):c.6011T>C (p.Val2004Ala) rs1759511205
NM_004415.4(DSP):c.6013G>A (p.Ala2005Thr)
NM_004415.4(DSP):c.6041G>C (p.Gly2014Ala) rs1470983327
NM_004415.4(DSP):c.6046G>A (p.Gly2016Arg) rs1759513408
NM_004415.4(DSP):c.6055G>A (p.Ala2019Thr) rs771974957
NM_004415.4(DSP):c.6067G>C (p.Ala2023Pro) rs776533737
NM_004415.4(DSP):c.6067G>T (p.Ala2023Ser) rs776533737
NM_004415.4(DSP):c.6073C>T (p.Pro2025Ser) rs1759514545
NM_004415.4(DSP):c.6088T>C (p.Ser2030Pro) rs1759514959
NM_004415.4(DSP):c.6089C>A (p.Ser2030Tyr) rs867842357
NM_004415.4(DSP):c.6104A>C (p.Lys2035Thr)
NM_004415.4(DSP):c.6106A>G (p.Arg2036Gly) rs2113699558
NM_004415.4(DSP):c.6118A>G (p.Ile2040Val)
NM_004415.4(DSP):c.612G>C (p.Met204Ile) rs1021314728
NM_004415.4(DSP):c.612G>T (p.Met204Ile)
NM_004415.4(DSP):c.6134C>G (p.Thr2045Arg) rs1759516546
NM_004415.4(DSP):c.6146T>G (p.Leu2049Arg) rs1759516965
NM_004415.4(DSP):c.6160G>A (p.Ala2054Thr) rs1759517531
NM_004415.4(DSP):c.6166G>C (p.Gly2056Arg) rs780274878
NM_004415.4(DSP):c.616G>A (p.Ala206Thr) rs794728109
NM_004415.4(DSP):c.6179A>T (p.Asp2060Val)
NM_004415.4(DSP):c.6181C>T (p.Pro2061Ser) rs1561702055
NM_004415.4(DSP):c.6187C>T (p.Arg2063Trp) rs374090050
NM_004415.4(DSP):c.6203C>G (p.Thr2068Ser)
NM_004415.4(DSP):c.6208G>C (p.Asp2070His)
NM_004415.4(DSP):c.620G>C (p.Trp207Ser) rs1445705079
NM_004415.4(DSP):c.6224G>T (p.Arg2075Leu)
NM_004415.4(DSP):c.6247C>G (p.Arg2083Gly) rs370093129
NM_004415.4(DSP):c.6275C>T (p.Ala2092Val) rs876657796
NM_004415.4(DSP):c.6278T>C (p.Ile2093Thr)
NM_004415.4(DSP):c.6295_6296delinsAT (p.Pro2099Ile) rs587782942
NM_004415.4(DSP):c.6328G>T (p.Ala2110Ser)
NM_004415.4(DSP):c.6353G>C (p.Arg2118Thr)
NM_004415.4(DSP):c.6358A>G (p.Thr2120Ala) rs1759528776
NM_004415.4(DSP):c.6361G>A (p.Gly2121Arg) rs368227724
NM_004415.4(DSP):c.6364A>G (p.Met2122Val)
NM_004415.4(DSP):c.6409C>A (p.Pro2137Thr) rs2113700303
NM_004415.4(DSP):c.6422T>G (p.Val2141Gly) rs1759532262
NM_004415.4(DSP):c.6454G>C (p.Gly2152Arg)
NM_004415.4(DSP):c.6460A>G (p.Ile2154Val)
NM_004415.4(DSP):c.6461T>C (p.Ile2154Thr) rs2113700418
NM_004415.4(DSP):c.6470A>G (p.Asp2157Gly) rs2113700447
NM_004415.4(DSP):c.6475T>C (p.Tyr2159His)
NM_004415.4(DSP):c.647A>C (p.Gln216Pro) rs1758736357
NM_004415.4(DSP):c.6485T>C (p.Leu2162Pro)
NM_004415.4(DSP):c.6494C>T (p.Pro2165Leu) rs1759535966
NM_004415.4(DSP):c.64T>C (p.Ser22Pro) rs2113628752
NM_004415.4(DSP):c.6505C>G (p.Gln2169Glu) rs1561702645
NM_004415.4(DSP):c.6512A>C (p.Asn2171Thr)
NM_004415.4(DSP):c.6526G>A (p.Val2176Ile) rs746533703
NM_004415.4(DSP):c.6526G>C (p.Val2176Leu) rs746533703
NM_004415.4(DSP):c.6530C>A (p.Thr2177Asn)
NM_004415.4(DSP):c.6545G>T (p.Ser2182Ile)
NM_004415.4(DSP):c.6547T>C (p.Tyr2183His) rs763549172
NM_004415.4(DSP):c.6551T>A (p.Val2184Glu)
NM_004415.4(DSP):c.6569G>T (p.Cys2190Phe) rs1276738564
NM_004415.4(DSP):c.6577G>A (p.Glu2193Lys) rs397516952
NM_004415.4(DSP):c.6586A>G (p.Thr2196Ala) rs2113700741
NM_004415.4(DSP):c.6595C>G (p.Leu2199Val)
NM_004415.4(DSP):c.65C>G (p.Ser22Cys)
NM_004415.4(DSP):c.6620G>C (p.Ser2207Thr)
NM_004415.4(DSP):c.663C>G (p.His221Gln) rs1561683654
NM_004415.4(DSP):c.665G>T (p.Arg222Leu)
NM_004415.4(DSP):c.6667G>A (p.Val2223Ile)
NM_004415.4(DSP):c.6701A>T (p.Asn2234Ile)
NM_004415.4(DSP):c.6718C>A (p.Gln2240Lys) rs374262024
NM_004415.4(DSP):c.6765G>T (p.Gln2255His) rs766183320
NM_004415.4(DSP):c.6769T>G (p.Ser2257Ala) rs1759547079
NM_004415.4(DSP):c.6776G>T (p.Cys2259Phe) rs754635738
NM_004415.4(DSP):c.6778A>G (p.Ile2260Val)
NM_004415.4(DSP):c.6818G>A (p.Gly2273Asp)
NM_004415.4(DSP):c.6826G>A (p.Glu2276Lys)
NM_004415.4(DSP):c.6827A>G (p.Glu2276Gly)
NM_004415.4(DSP):c.682A>G (p.Ile228Val) rs934038992
NM_004415.4(DSP):c.6853C>A (p.Pro2285Thr) rs377085222
NM_004415.4(DSP):c.6859A>G (p.Thr2287Ala)
NM_004415.4(DSP):c.685G>A (p.Gly229Ser) rs376185352
NM_004415.4(DSP):c.685G>T (p.Gly229Cys)
NM_004415.4(DSP):c.6895G>A (p.Gly2299Ser) rs1561703092
NM_004415.4(DSP):c.6896G>C (p.Gly2299Ala)
NM_004415.4(DSP):c.6946T>C (p.Tyr2316His)
NM_004415.4(DSP):c.694C>T (p.Arg232Cys) rs777847026
NM_004415.4(DSP):c.6950A>G (p.Lys2317Arg)
NM_004415.4(DSP):c.6955G>A (p.Gly2319Ser)
NM_004415.4(DSP):c.6967A>C (p.Ile2323Leu) rs1759554116
NM_004415.4(DSP):c.6974T>G (p.Phe2325Cys) rs1349503429
NM_004415.4(DSP):c.7009A>G (p.Thr2337Ala)
NM_004415.4(DSP):c.7021G>A (p.Asp2341Asn) rs200314271
NM_004415.4(DSP):c.7031C>G (p.Thr2344Arg)
NM_004415.4(DSP):c.7034G>T (p.Gly2345Val)
NM_004415.4(DSP):c.7039A>C (p.Ile2347Leu) rs768837509
NM_004415.4(DSP):c.7045T>C (p.Ser2349Pro)
NM_004415.4(DSP):c.7069G>C (p.Glu2357Gln)
NM_004415.4(DSP):c.7084G>A (p.Gly2362Ser)
NM_004415.4(DSP):c.7093A>G (p.Ile2365Val)
NM_004415.4(DSP):c.7105G>A (p.Glu2369Lys)
NM_004415.4(DSP):c.7120A>G (p.Thr2374Ala) rs1759559299
NM_004415.4(DSP):c.7129_7152del (p.Ile2377_His2384del) rs2113701695
NM_004415.4(DSP):c.7163T>C (p.Val2388Ala)
NM_004415.4(DSP):c.716A>G (p.Lys239Arg)
NM_004415.4(DSP):c.7179G>T (p.Lys2393Asn) rs1759561425
NM_004415.4(DSP):c.7183G>A (p.Gly2395Ser)
NM_004415.4(DSP):c.7186T>A (p.Tyr2396Asn) rs863225268
NM_004415.4(DSP):c.718G>C (p.Ala240Pro) rs1758741133
NM_004415.4(DSP):c.71C>G (p.Pro24Arg) rs978383808
NM_004415.4(DSP):c.71C>T (p.Pro24Leu) rs978383808
NM_004415.4(DSP):c.7204A>G (p.Ser2402Gly)
NM_004415.4(DSP):c.7213C>T (p.Leu2405Phe) rs774401264
NM_004415.4(DSP):c.7223C>A (p.Pro2408Gln) rs2113701876
NM_004415.4(DSP):c.7246T>C (p.Phe2416Leu) rs2113701908
NM_004415.4(DSP):c.7249G>A (p.Asp2417Asn)
NM_004415.4(DSP):c.726+5T>G
NM_004415.4(DSP):c.7268A>G (p.Asn2423Ser)
NM_004415.4(DSP):c.726G>A (p.Leu242=)
NM_004415.4(DSP):c.727-11T>C rs886061745
NM_004415.4(DSP):c.727C>T (p.Arg243Cys) rs1191710190
NM_004415.4(DSP):c.7284A>G (p.Gln2428=) rs1759565168
NM_004415.4(DSP):c.7290A>C (p.Lys2430Asn)
NM_004415.4(DSP):c.7305G>C (p.Lys2435Asn) rs1554108998
NM_004415.4(DSP):c.7322T>C (p.Leu2441Pro)
NM_004415.4(DSP):c.7327C>T (p.Leu2443Phe) rs864309585
NM_004415.4(DSP):c.7339A>G (p.Lys2447Glu) rs1759567175
NM_004415.4(DSP):c.7346A>C (p.Lys2449Thr) rs1581823888
NM_004415.4(DSP):c.7347GAA[1] (p.Lys2451del) rs766860183
NM_004415.4(DSP):c.7360C>G (p.Gln2454Glu) rs373890201
NM_004415.4(DSP):c.7370A>C (p.Gln2457Pro) rs1206306343
NM_004415.4(DSP):c.7372A>G (p.Lys2458Glu) rs1759568876
NM_004415.4(DSP):c.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.73G>T (p.Asp25Tyr) rs2113628779
NM_004415.4(DSP):c.7418C>T (p.Thr2473Ile) rs1389902511
NM_004415.4(DSP):c.7420A>T (p.Asn2474Tyr)
NM_004415.4(DSP):c.7421A>G (p.Asn2474Ser) rs1759570598
NM_004415.4(DSP):c.742A>G (p.Ile248Val)
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.7480A>G (p.Lys2494Glu)
NM_004415.4(DSP):c.7481A>G (p.Lys2494Arg)
NM_004415.4(DSP):c.7499A>G (p.Glu2500Gly)
NM_004415.4(DSP):c.7503_7508del (p.Cys2501_Glu2502del) rs1473818298
NM_004415.4(DSP):c.7526C>T (p.Thr2509Met)
NM_004415.4(DSP):c.7528G>A (p.Gly2510Arg)
NM_004415.4(DSP):c.7534G>C (p.Asp2512His)
NM_004415.4(DSP):c.7541C>T (p.Ser2514Phe)
NM_004415.4(DSP):c.7543_7544delinsCGTGGTATCTGGGAGGCCTACAAGAAGGGCCTAATTGATTATGAAACCTTCAAAGAACTGTGTGAGCAGGAATGTGAATGGGAAGAAATAACCATCACGGGATCAGATGGCTCCCGTGGTAA (p.Thr2515delinsArgGlyIleTrpGluAlaTyrLysLysGlyLeuIleAspTyrGluThrPheLysGluLeuCysGluGlnGluCysGluTrpGluGluIleThrIleThrGlySerAspGlySerArgGlyAsn) rs2113702542
NM_004415.4(DSP):c.7557G>A (p.Leu2519=) rs397516957
NM_004415.4(DSP):c.7579C>G (p.Gln2527Glu) rs2113702673
NM_004415.4(DSP):c.7582T>G (p.Tyr2528Asp) rs2113702680
NM_004415.4(DSP):c.7585G>A (p.Asp2529Asn) rs1759581655
NM_004415.4(DSP):c.7588A>G (p.Ile2530Val) rs397516958
NM_004415.4(DSP):c.7598C>G (p.Ala2533Gly)
NM_004415.4(DSP):c.7604A>G (p.Asp2535Gly) rs1759583033
NM_004415.4(DSP):c.7610G>A (p.Gly2537Asp)
NM_004415.4(DSP):c.7610G>T (p.Gly2537Val)
NM_004415.4(DSP):c.7618G>C (p.Asp2540His)
NM_004415.4(DSP):c.7619A>T (p.Asp2540Val)
NM_004415.4(DSP):c.7620C>A (p.Asp2540Glu) rs2113702817
NM_004415.4(DSP):c.762G>T (p.Glu254Asp) rs1406835654
NM_004415.4(DSP):c.7633G>T (p.Asp2545Tyr)
NM_004415.4(DSP):c.7635T>G (p.Asp2545Glu) rs1759584844
NM_004415.4(DSP):c.7636C>G (p.Gln2546Glu)
NM_004415.4(DSP):c.7642C>G (p.Arg2548Gly)
NM_004415.4(DSP):c.7646C>T (p.Ser2549Phe)
NM_004415.4(DSP):c.7657A>G (p.Ser2553Gly) rs769601021
NM_004415.4(DSP):c.7675G>A (p.Asp2559Asn) rs2113702999
NM_004415.4(DSP):c.7679T>C (p.Met2560Thr)
NM_004415.4(DSP):c.7685_7687del (p.Ser2562del) rs762495630
NM_004415.4(DSP):c.7689G>C (p.Leu2563Phe)
NM_004415.4(DSP):c.7689_7694dup (p.Lys2564_Asn2565insLysLys) rs1554109062
NM_004415.4(DSP):c.769A>G (p.Asn257Asp) rs1758773914
NM_004415.4(DSP):c.7706C>A (p.Thr2569Asn)
NM_004415.4(DSP):c.7708A>G (p.Ser2570Gly) rs1456123705
NM_004415.4(DSP):c.7716C>T (p.Ser2572=) rs773824736
NM_004415.4(DSP):c.7718T>C (p.Met2573Thr) rs1759589574
NM_004415.4(DSP):c.7735G>C (p.Asp2579His) rs750744914
NM_004415.4(DSP):c.7736A>T (p.Asp2579Val)
NM_004415.4(DSP):c.7754C>T (p.Ser2585Phe) rs1018344778
NM_004415.4(DSP):c.7756C>G (p.Arg2586Gly) rs1420689736
NM_004415.4(DSP):c.776T>C (p.Leu259Pro) rs1758774627
NM_004415.4(DSP):c.777+5G>A
NM_004415.4(DSP):c.778-11C>A
NM_004415.4(DSP):c.778-12C>T
NM_004415.4(DSP):c.778-4G>C rs1296932263
NM_004415.4(DSP):c.778-6G>A
NM_004415.4(DSP):c.7817G>A (p.Ser2606Asn) rs199597935
NM_004415.4(DSP):c.781G>A (p.Ala261Thr) rs967465931
NM_004415.4(DSP):c.7820G>T (p.Ser2607Ile)
NM_004415.4(DSP):c.7823C>A (p.Ser2608Tyr) rs777066674
NM_004415.4(DSP):c.7832A>T (p.Asp2611Val)
NM_004415.4(DSP):c.7837C>G (p.Leu2613Val) rs1286275087
NM_004415.4(DSP):c.7845A>C (p.Glu2615Asp) rs1367058874
NM_004415.4(DSP):c.7861G>A (p.Ala2621Thr) rs1554109107
NM_004415.4(DSP):c.7868T>G (p.Phe2623Cys)
NM_004415.4(DSP):c.7886A>G (p.Glu2629Gly)
NM_004415.4(DSP):c.7894T>C (p.Ser2632Pro)
NM_004415.4(DSP):c.7907G>A (p.Gly2636Asp) rs1759605211
NM_004415.4(DSP):c.7909A>G (p.Ile2637Val) rs1759605309
NM_004415.4(DSP):c.7911A>G (p.Ile2637Met) rs2113703589
NM_004415.4(DSP):c.7920C>T (p.Gly2640=)
NM_004415.4(DSP):c.7927G>A (p.Asp2643Asn)
NM_004415.4(DSP):c.7942C>G (p.Gln2648Glu) rs2113703697
NM_004415.4(DSP):c.795G>C (p.Arg265Ser)
NM_004415.4(DSP):c.796A>C (p.Met266Leu) rs1758827543
NM_004415.4(DSP):c.7987C>G (p.Pro2663Ala)
NM_004415.4(DSP):c.7991C>A (p.Thr2664Asn) rs1759611499
NM_004415.4(DSP):c.8000A>G (p.Gln2667Arg)
NM_004415.4(DSP):c.801T>A (p.Asp267Glu)
NM_004415.4(DSP):c.8052G>A (p.Met2684Ile) rs1408242511
NM_004415.4(DSP):c.8071G>C (p.Ala2691Pro) rs1006955897
NM_004415.4(DSP):c.8084T>G (p.Phe2695Cys) rs764994940
NM_004415.4(DSP):c.8085C>A (p.Phe2695Leu) rs1759617585
NM_004415.4(DSP):c.8093T>C (p.Phe2698Ser) rs1759618009
NM_004415.4(DSP):c.8101G>A (p.Val2701Met) rs1561704928
NM_004415.4(DSP):c.8121G>T (p.Met2707Ile) rs2113704161
NM_004415.4(DSP):c.8122T>A (p.Ser2708Thr) rs924262414
NM_004415.4(DSP):c.8138T>G (p.Val2713Gly) rs1759621076
NM_004415.4(DSP):c.8149T>C (p.Trp2717Arg) rs1554109176
NM_004415.4(DSP):c.8152C>G (p.Leu2718Val)
NM_004415.4(DSP):c.8159A>G (p.Tyr2720Cys) rs367972703
NM_004415.4(DSP):c.8165C>G (p.Ala2722Gly)
NM_004415.4(DSP):c.8171A>G (p.Gln2724Arg) rs1759623133
NM_004415.4(DSP):c.8188del (p.Gln2730fs) rs886038929
NM_004415.4(DSP):c.8195T>G (p.Leu2732Arg)
NM_004415.4(DSP):c.8197A>C (p.Thr2733Pro)
NM_004415.4(DSP):c.8199G>A (p.Thr2733=) rs145085696
NM_004415.4(DSP):c.8201G>A (p.Gly2734Glu) rs1561705241
NM_004415.4(DSP):c.8207T>A (p.Leu2736His) rs1759625908
NM_004415.4(DSP):c.8216C>G (p.Pro2739Arg) rs761527198
NM_004415.4(DSP):c.8218G>C (p.Glu2740Gln)
NM_004415.4(DSP):c.8230A>G (p.Arg2744Gly) rs1198357388
NM_004415.4(DSP):c.8242G>A (p.Glu2748Lys)
NM_004415.4(DSP):c.8249C>T (p.Ala2750Val)
NM_004415.4(DSP):c.8252T>C (p.Ile2751Thr)
NM_004415.4(DSP):c.8252T>G (p.Ile2751Ser)
NM_004415.4(DSP):c.8255G>C (p.Arg2752Pro) rs769706539
NM_004415.4(DSP):c.8257A>C (p.Lys2753Gln) rs1554109205
NM_004415.4(DSP):c.8272G>A (p.Gly2758Ser)
NM_004415.4(DSP):c.8275C>T (p.Arg2759Cys) rs148254632
NM_004415.4(DSP):c.8276G>A (p.Arg2759His) rs936541705
NM_004415.4(DSP):c.8284C>T (p.Gln2762Ter) rs376703565
NM_004415.4(DSP):c.8288G>A (p.Arg2763Lys)
NM_004415.4(DSP):c.8291_8292insTGCT (p.Gln2765fs) rs756925801
NM_004415.4(DSP):c.8296G>A (p.Asp2766Asn) rs1759633378
NM_004415.4(DSP):c.8299A>G (p.Thr2767Ala) rs1304137526
NM_004415.4(DSP):c.8300C>G (p.Thr2767Ser)
NM_004415.4(DSP):c.8300C>T (p.Thr2767Ile) rs34884895
NM_004415.4(DSP):c.8304C>G (p.Ser2768Arg)
NM_004415.4(DSP):c.8316A>C (p.Lys2772Asn)
NM_004415.4(DSP):c.8319C>G (p.Ile2773Met)
NM_004415.4(DSP):c.8319_8341del (p.Leu2774fs) rs2113704840
NM_004415.4(DSP):c.8330C>T (p.Pro2777Leu)
NM_004415.4(DSP):c.8342T>C (p.Leu2781Ser)
NM_004415.4(DSP):c.8346A>T (p.Lys2782Asn)
NM_004415.4(DSP):c.8363C>T (p.Ala2788Val) rs748307773
NM_004415.4(DSP):c.836C>T (p.Thr279Met) rs1758829264
NM_004415.4(DSP):c.8371C>G (p.Arg2791Gly) rs867430601
NM_004415.4(DSP):c.8371C>T (p.Arg2791Cys) rs867430601
NM_004415.4(DSP):c.8386G>A (p.Asp2796Asn)
NM_004415.4(DSP):c.8386G>C (p.Asp2796His)
NM_004415.4(DSP):c.8387A>G (p.Asp2796Gly)
NM_004415.4(DSP):c.8387A>T (p.Asp2796Val) rs888716643
NM_004415.4(DSP):c.8390del (p.Ile2797fs)
NM_004415.4(DSP):c.8392A>T (p.Thr2798Ser) rs771976131
NM_004415.4(DSP):c.8396G>C (p.Gly2799Ala)
NM_004415.4(DSP):c.8401C>T (p.Arg2801Cys) rs760215987
NM_004415.4(DSP):c.8414C>G (p.Ala2805Gly)
NM_004415.4(DSP):c.8417C>T (p.Ala2806Val)
NM_004415.4(DSP):c.8426C>T (p.Ser2809Leu)
NM_004415.4(DSP):c.8438T>C (p.Leu2813Ser)
NM_004415.4(DSP):c.8440C>A (p.Pro2814Thr) rs1303168294
NM_004415.4(DSP):c.8442dup (p.Ser2815fs) rs1554109247
NM_004415.4(DSP):c.8450A>G (p.Tyr2817Cys)
NM_004415.4(DSP):c.8450ACA[1] (p.Asn2818del)
NM_004415.4(DSP):c.8455A>G (p.Met2819Val) rs138329459
NM_004415.4(DSP):c.8462_8463del (p.Ser2821fs) rs2113705206
NM_004415.4(DSP):c.8468C>T (p.Pro2823Leu) rs1404710139
NM_004415.4(DSP):c.8469_8487del (p.Gly2824fs) rs2113705210
NM_004415.4(DSP):c.8471_8483del (p.Gly2824fs) rs1759642975
NM_004415.4(DSP):c.8472_8495del (p.2827SGSR[3]) rs1267022420
NM_004415.4(DSP):c.8476C>A (p.Arg2826Ser) rs139969658
NM_004415.4(DSP):c.8480C>T (p.Ser2827Phe) rs746773800
NM_004415.4(DSP):c.8482G>C (p.Gly2828Arg) rs369682599
NM_004415.4(DSP):c.8484_8507del (p.2827SGSR[3])
NM_004415.4(DSP):c.8486C>G (p.Ser2829Cys) rs2113705415
NM_004415.4(DSP):c.8488C>A (p.Arg2830Ser) rs1354218745
NM_004415.4(DSP):c.8488C>T (p.Arg2830Cys) rs1354218745
NM_004415.4(DSP):c.848T>G (p.Ile283Ser)
NM_004415.4(DSP):c.8493_8504dup (p.2827_2830SGSR[6]) rs748194022
NM_004415.4(DSP):c.8493_8516del (p.2827_2830SGSR[3]) rs1554109280
NM_004415.4(DSP):c.8496ATCTCGCTCCGG[3] (p.2827SGSR[6]) rs397516971
NM_004415.4(DSP):c.8496_8500dup (p.Arg2834fs)
NM_004415.4(DSP):c.8506G>A (p.Gly2836Arg)
NM_004415.4(DSP):c.8513G>A (p.Arg2838His) rs930055191
NM_004415.4(DSP):c.8516C>T (p.Ser2839Phe) rs750438076
NM_004415.4(DSP):c.8524C>G (p.Arg2842Gly)
NM_004415.4(DSP):c.8525G>A (p.Arg2842His)
NM_004415.4(DSP):c.852G>A (p.Met284Ile) rs794728110
NM_004415.4(DSP):c.8531G>T (p.Gly2844Val) rs374137476
NM_004415.4(DSP):c.8536C>T (p.Arg2846Trp)
NM_004415.4(DSP):c.8552A>G (p.Asp2851Gly)
NM_004415.4(DSP):c.8573A>G (p.Tyr2858Cys) rs1759654706
NM_004415.4(DSP):c.8577_8588del (p.2858YS[1]) rs2113705755
NM_004415.4(DSP):c.8579A>G (p.Tyr2860Cys)
NM_004415.4(DSP):c.8583del (p.Tyr2862fs) rs765683790
NM_004415.4(DSP):c.8588C>T (p.Ser2863Leu)
NM_004415.4(DSP):c.8596AGT[1] (p.Ser2868del)
NM_004415.4(DSP):c.859A>C (p.Asn287His) rs1554106503
NM_004415.4(DSP):c.8602T>A (p.Ser2868Thr) rs1554109346
NM_004415.4(DSP):c.860A>C (p.Asn287Thr)
NM_004415.4(DSP):c.865T>C (p.Cys289Arg)
NM_004415.4(DSP):c.868G>A (p.Glu290Lys) rs397516974
NM_004415.4(DSP):c.868GAG[5] (p.Glu293dup) rs1561685368
NM_004415.4(DSP):c.889G>C (p.Asp297His) rs201930322
NM_004415.4(DSP):c.889G>T (p.Asp297Tyr) rs201930322
NM_004415.4(DSP):c.892T>G (p.Trp298Gly)
NM_004415.4(DSP):c.8G>A (p.Cys3Tyr) rs760993985
NM_004415.4(DSP):c.905A>T (p.Asn302Ile)
NM_004415.4(DSP):c.910A>C (p.Asn304His) rs2113669485
NM_004415.4(DSP):c.913A>G (p.Ile305Val) rs17604693
NM_004415.4(DSP):c.922A>C (p.Lys308Gln) rs1060500617
NM_004415.4(DSP):c.931G>C (p.Ala311Pro)
NM_004415.4(DSP):c.935_937del (p.Phe312del) rs794728138
NM_004415.4(DSP):c.939+2_939+3insCC rs2113669596
NM_004415.4(DSP):c.939+4A>C
NM_004415.4(DSP):c.940-7T>G rs1368622056
NM_004415.4(DSP):c.944G>C (p.Arg315Pro)
NM_004415.4(DSP):c.944_945delinsAA (p.Arg315Gln)
NM_004415.4(DSP):c.94A>G (p.Ser32Gly) rs2113628871
NM_004415.4(DSP):c.950G>C (p.Ser317Thr)
NM_004415.4(DSP):c.954A>C (p.Gln318His) rs1023875624
NM_004415.4(DSP):c.955C>G (p.Leu319Val) rs777852039
NM_004415.4(DSP):c.956T>C (p.Leu319Pro)
NM_004415.4(DSP):c.962T>A (p.Val321Asp)
NM_004415.4(DSP):c.968A>G (p.Glu323Gly) rs1064795408
NM_004415.4(DSP):c.969_974del (p.322KE[1])
NM_004415.4(DSP):c.97G>A (p.Gly33Ser) rs1581777550
NM_004415.4(DSP):c.986T>C (p.Leu329Pro)
NM_004415.4(DSP):c.992A>C (p.Gln331Pro) rs746517026
NM_004415.4(DSP):c.998G>C (p.Ser333Thr) rs749695729

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