ClinVar Miner

List of variants in gene DSP reported as uncertain significance by Color Diagnostics, LLC DBA Color Health

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 1000
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HGVS dbSNP gnomAD frequency
NM_004415.4(DSP):c.5035C>T (p.His1679Tyr) rs762561997 0.00021
NM_004415.4(DSP):c.3862A>C (p.Lys1288Gln) rs138907450 0.00019
NM_004415.4(DSP):c.6247C>T (p.Arg2083Cys) rs370093129 0.00019
NM_004415.4(DSP):c.4775A>G (p.Lys1592Arg) rs200421954 0.00016
NM_004415.4(DSP):c.6479G>A (p.Arg2160Gln) rs146642551 0.00016
NM_004415.4(DSP):c.8482G>A (p.Gly2828Ser) rs369682599 0.00016
NM_004415.4(DSP):c.242G>A (p.Cys81Tyr) rs140965835 0.00014
NM_004415.4(DSP):c.889G>A (p.Asp297Asn) rs201930322 0.00014
NM_004415.4(DSP):c.251G>A (p.Arg84Gln) rs373736975 0.00013
NM_004415.4(DSP):c.2552T>A (p.Leu851Gln) rs111368396 0.00013
NM_004415.4(DSP):c.3562T>C (p.Tyr1188His) rs141508330 0.00012
NM_004415.4(DSP):c.3600T>G (p.Asn1200Lys) rs202049575 0.00012
NM_004415.4(DSP):c.5744G>A (p.Arg1915His) rs146617683 0.00011
NM_004415.4(DSP):c.3922C>T (p.Arg1308Trp) rs144641271 0.00010
NM_004415.4(DSP):c.6566G>A (p.Arg2189Gln) rs766933370 0.00010
NM_004415.4(DSP):c.3616T>A (p.Leu1206Ile) rs151115778 0.00009
NM_004415.4(DSP):c.424C>T (p.Leu142Phe) rs373769397 0.00009
NM_004415.4(DSP):c.5513G>A (p.Arg1838His) rs377715841 0.00009
NM_004415.4(DSP):c.6307A>G (p.Lys2103Glu) rs149513743 0.00009
NM_004415.4(DSP):c.7852C>T (p.Pro2618Ser) rs376005629 0.00009
NM_004415.4(DSP):c.2125C>T (p.Leu709Phe) rs1431507005 0.00008
NM_004415.4(DSP):c.107G>C (p.Gly36Ala) rs778506459 0.00007
NM_004415.4(DSP):c.2941A>G (p.Lys981Glu) rs747580402 0.00007
NM_004415.4(DSP):c.4901G>A (p.Arg1634Gln) rs144106775 0.00007
NM_004415.4(DSP):c.7552G>A (p.Val2518Ile) rs757394666 0.00007
NM_004415.4(DSP):c.916G>A (p.Ala306Thr) rs368193211 0.00007
NM_004415.4(DSP):c.2122G>A (p.Glu708Lys) rs773113261 0.00006
NM_004415.4(DSP):c.2684A>G (p.Tyr895Cys) rs367752002 0.00006
NM_004415.4(DSP):c.3294C>G (p.Asp1098Glu) rs535762713 0.00006
NM_004415.4(DSP):c.3304G>A (p.Gly1102Ser) rs2491079 0.00006
NM_004415.4(DSP):c.3836C>T (p.Ala1279Val) rs753270443 0.00006
NM_004415.4(DSP):c.4117A>G (p.Thr1373Ala) rs200745877 0.00006
NM_004415.4(DSP):c.4175G>A (p.Arg1392Gln) rs201736018 0.00006
NM_004415.4(DSP):c.6188G>A (p.Arg2063Gln) rs142927608 0.00006
NM_004415.4(DSP):c.6511A>G (p.Asn2171Asp) rs149827779 0.00006
NM_004415.4(DSP):c.3971A>T (p.Asn1324Ile) rs749820299 0.00005
NM_004415.4(DSP):c.4915G>A (p.Val1639Met) rs539587517 0.00005
NM_004415.4(DSP):c.5063C>T (p.Ala1688Val) rs372288373 0.00005
NM_004415.4(DSP):c.5285G>A (p.Arg1762Gln) rs751849031 0.00005
NM_004415.4(DSP):c.596G>A (p.Arg199Lys) rs143648545 0.00005
NM_004415.4(DSP):c.6452G>A (p.Arg2151Gln) rs367759510 0.00005
NM_004415.4(DSP):c.6565C>T (p.Arg2189Trp) rs767661570 0.00005
NM_004415.4(DSP):c.6718C>G (p.Gln2240Glu) rs374262024 0.00005
NM_004415.4(DSP):c.8255G>A (p.Arg2752Gln) rs769706539 0.00005
NM_004415.4(DSP):c.8281G>A (p.Ala2761Thr) rs376751288 0.00005
NM_004415.4(DSP):c.8462C>T (p.Ser2821Leu) rs201826850 0.00005
NM_004415.4(DSP):c.8524C>T (p.Arg2842Cys) rs144850908 0.00005
NM_004415.4(DSP):c.1222A>C (p.Asn408His) rs142129767 0.00004
NM_004415.4(DSP):c.137G>A (p.Gly46Asp) rs140403872 0.00004
NM_004415.4(DSP):c.1418A>G (p.Gln473Arg) rs746802503 0.00004
NM_004415.4(DSP):c.1469G>A (p.Arg490His) rs747815091 0.00004
NM_004415.4(DSP):c.2308G>A (p.Val770Ile) rs1225927424 0.00004
NM_004415.4(DSP):c.2622C>G (p.Ile874Met) rs751067479 0.00004
NM_004415.4(DSP):c.3134G>A (p.Arg1045Gln) rs374263890 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.4679A>G (p.Gln1560Arg) rs796530013 0.00004
NM_004415.4(DSP):c.4696C>G (p.Leu1566Val) rs201785897 0.00004
NM_004415.4(DSP):c.4996C>T (p.Arg1666Trp) rs758312365 0.00004
NM_004415.4(DSP):c.4997G>A (p.Arg1666Gln) rs768577891 0.00004
NM_004415.4(DSP):c.5173C>T (p.Arg1725Trp) rs200336897 0.00004
NM_004415.4(DSP):c.5197G>A (p.Asp1733Asn) rs138588403 0.00004
NM_004415.4(DSP):c.5668A>G (p.Arg1890Gly) rs762079110 0.00004
NM_004415.4(DSP):c.5795G>A (p.Arg1932His) rs770522444 0.00004
NM_004415.4(DSP):c.6442G>A (p.Ala2148Thr) rs144539278 0.00004
NM_004415.4(DSP):c.7738G>T (p.Asp2580Tyr) rs371129517 0.00004
NM_004415.4(DSP):c.7970C>T (p.Thr2657Ile) rs1478775642 0.00004
NM_004415.4(DSP):c.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.1103T>C (p.Ile368Thr) rs141163578 0.00003
NM_004415.4(DSP):c.1267-14A>T rs374439921 0.00003
NM_004415.4(DSP):c.1324T>G (p.Ser442Ala) rs755492444 0.00003
NM_004415.4(DSP):c.1487C>T (p.Thr496Met) rs374283517 0.00003
NM_004415.4(DSP):c.1630A>C (p.Met544Leu) rs201960323 0.00003
NM_004415.4(DSP):c.1840G>A (p.Asp614Asn) rs764951792 0.00003
NM_004415.4(DSP):c.2047G>A (p.Glu683Lys) rs775181391 0.00003
NM_004415.4(DSP):c.2345A>G (p.Asp782Gly) rs557966264 0.00003
NM_004415.4(DSP):c.2540C>T (p.Pro847Leu) rs727504657 0.00003
NM_004415.4(DSP):c.2546A>G (p.Tyr849Cys) rs778636665 0.00003
NM_004415.4(DSP):c.2720G>A (p.Arg907His) rs774665110 0.00003
NM_004415.4(DSP):c.3153C>A (p.Asn1051Lys) rs563387839 0.00003
NM_004415.4(DSP):c.344A>G (p.Asn115Ser) rs28763958 0.00003
NM_004415.4(DSP):c.3551G>A (p.Arg1184Gln) rs147909031 0.00003
NM_004415.4(DSP):c.38C>T (p.Thr13Ile) rs201133637 0.00003
NM_004415.4(DSP):c.4019G>A (p.Arg1340His) rs765247380 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.4387G>A (p.Val1463Ile) rs948230523 0.00003
NM_004415.4(DSP):c.4490G>A (p.Arg1497Gln) rs727505037 0.00003
NM_004415.4(DSP):c.4492A>G (p.Lys1498Glu) rs794728122 0.00003
NM_004415.4(DSP):c.4514C>T (p.Ala1505Val) rs375919492 0.00003
NM_004415.4(DSP):c.4573A>G (p.Ile1525Val) rs145796901 0.00003
NM_004415.4(DSP):c.4819G>A (p.Glu1607Lys) rs750054075 0.00003
NM_004415.4(DSP):c.484C>T (p.Arg162Cys) rs760711308 0.00003
NM_004415.4(DSP):c.485G>T (p.Arg162Leu) rs397516944 0.00003
NM_004415.4(DSP):c.4900C>T (p.Arg1634Trp) rs973569441 0.00003
NM_004415.4(DSP):c.5019A>T (p.Glu1673Asp) rs773113214 0.00003
NM_004415.4(DSP):c.5194G>A (p.Asp1732Asn) rs780224658 0.00003
NM_004415.4(DSP):c.5324G>T (p.Arg1775Ile) rs34738426 0.00003
NM_004415.4(DSP):c.5414G>A (p.Cys1805Tyr) rs768161038 0.00003
NM_004415.4(DSP):c.55C>A (p.Arg19Ser) rs777340009 0.00003
NM_004415.4(DSP):c.5738G>C (p.Cys1913Ser) rs755250746 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.6248G>A (p.Arg2083His) rs574637009 0.00003
NM_004415.4(DSP):c.6368G>A (p.Arg2123His) rs142272846 0.00003
NM_004415.4(DSP):c.6416A>G (p.Asn2139Ser) rs765687440 0.00003
NM_004415.4(DSP):c.6451C>T (p.Arg2151Trp) rs181608152 0.00003
NM_004415.4(DSP):c.665G>A (p.Arg222Gln) rs377749481 0.00003
NM_004415.4(DSP):c.668G>A (p.Gly223Asp) rs199509943 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.7123G>A (p.Gly2375Arg) rs376923069 0.00003
NM_004415.4(DSP):c.7622G>A (p.Arg2541Lys) rs142078450 0.00003
NM_004415.4(DSP):c.7826T>C (p.Phe2609Ser) rs397516959 0.00003
NM_004415.4(DSP):c.7915C>T (p.Arg2639Trp) rs771553674 0.00003
NM_004415.4(DSP):c.8030A>G (p.Gln2677Arg) rs749806703 0.00003
NM_004415.4(DSP):c.8084T>A (p.Phe2695Tyr) rs764994940 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.130C>T (p.Arg44Trp) rs1255744065 0.00002
NM_004415.4(DSP):c.1349C>T (p.Pro450Leu) rs756357907 0.00002
NM_004415.4(DSP):c.1419+5G>C rs1004508873 0.00002
NM_004415.4(DSP):c.1493C>T (p.Pro498Leu) rs761051181 0.00002
NM_004415.4(DSP):c.1501G>A (p.Val501Ile) rs368778031 0.00002
NM_004415.4(DSP):c.1736C>T (p.Thr579Met) rs765038828 0.00002
NM_004415.4(DSP):c.1816C>T (p.Arg606Trp) rs372467697 0.00002
NM_004415.4(DSP):c.2027G>A (p.Arg676His) rs777782794 0.00002
NM_004415.4(DSP):c.2184T>A (p.Asp728Glu) rs750383681 0.00002
NM_004415.4(DSP):c.2275G>A (p.Val759Ile) rs745544854 0.00002
NM_004415.4(DSP):c.2329A>G (p.Ile777Val) rs755860619 0.00002
NM_004415.4(DSP):c.2443A>G (p.Lys815Glu) rs774638728 0.00002
NM_004415.4(DSP):c.2675G>A (p.Arg892His) rs758592774 0.00002
NM_004415.4(DSP):c.2719C>T (p.Arg907Cys) rs749051278 0.00002
NM_004415.4(DSP):c.2771T>C (p.Met924Thr) rs752816142 0.00002
NM_004415.4(DSP):c.2861G>A (p.Cys954Tyr) rs779878192 0.00002
NM_004415.4(DSP):c.3167A>G (p.Lys1056Arg) rs771137827 0.00002
NM_004415.4(DSP):c.3661A>G (p.Ile1221Val) rs794728120 0.00002
NM_004415.4(DSP):c.3766C>T (p.Leu1256Phe) rs775080202 0.00002
NM_004415.4(DSP):c.3774C>A (p.Asp1258Glu) rs748733750 0.00002
NM_004415.4(DSP):c.3800G>A (p.Arg1267Gln) rs759698959 0.00002
NM_004415.4(DSP):c.3835G>A (p.Ala1279Thr) rs763915365 0.00002
NM_004415.4(DSP):c.3877A>G (p.Ile1293Val) rs376555665 0.00002
NM_004415.4(DSP):c.3912G>C (p.Glu1304Asp) rs764189408 0.00002
NM_004415.4(DSP):c.4046G>A (p.Ser1349Asn) rs144465638 0.00002
NM_004415.4(DSP):c.4233G>C (p.Arg1411Ser) rs771721410 0.00002
NM_004415.4(DSP):c.4466T>G (p.Leu1489Arg) rs746782582 0.00002
NM_004415.4(DSP):c.4471G>A (p.Asp1491Asn) rs768402359 0.00002
NM_004415.4(DSP):c.4478A>C (p.Glu1493Ala) rs760433367 0.00002
NM_004415.4(DSP):c.449G>A (p.Arg150Gln) rs587782940 0.00002
NM_004415.4(DSP):c.4565C>T (p.Thr1522Met) rs375150075 0.00002
NM_004415.4(DSP):c.4610G>A (p.Arg1537His) rs762135558 0.00002
NM_004415.4(DSP):c.4657G>A (p.Asp1553Asn) rs730880084 0.00002
NM_004415.4(DSP):c.4666A>G (p.Ile1556Val) rs530647574 0.00002
NM_004415.4(DSP):c.467T>A (p.Ile156Asn) rs767692014 0.00002
NM_004415.4(DSP):c.4867T>C (p.Ser1623Pro) rs749679496 0.00002
NM_004415.4(DSP):c.4991T>G (p.Leu1664Arg) rs746139953 0.00002
NM_004415.4(DSP):c.5084G>A (p.Ser1695Asn) rs758637843 0.00002
NM_004415.4(DSP):c.517A>T (p.Thr173Ser) rs1372912970 0.00002
NM_004415.4(DSP):c.5183G>A (p.Arg1728Lys) rs750854585 0.00002
NM_004415.4(DSP):c.5383T>A (p.Ser1795Thr) rs764279057 0.00002
NM_004415.4(DSP):c.5794C>T (p.Arg1932Cys) rs748825632 0.00002
NM_004415.4(DSP):c.5932A>G (p.Met1978Val) rs770077556 0.00002
NM_004415.4(DSP):c.6100G>A (p.Ala2034Thr) rs1043978096 0.00002
NM_004415.4(DSP):c.61G>A (p.Glu21Lys) rs747956457 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.7117G>A (p.Ala2373Thr) rs373965771 0.00002
NM_004415.4(DSP):c.7200A>C (p.Glu2400Asp) rs1209240894 0.00002
NM_004415.4(DSP):c.7310A>G (p.Glu2437Gly) rs794728132 0.00002
NM_004415.4(DSP):c.7628T>A (p.Phe2543Tyr) rs1243456706 0.00002
NM_004415.4(DSP):c.7657A>G (p.Ser2553Gly) rs769601021 0.00002
NM_004415.4(DSP):c.7847C>T (p.Ser2616Leu) rs571577908 0.00002
NM_004415.4(DSP):c.8044C>G (p.Gln2682Glu) rs772365921 0.00002
NM_004415.4(DSP):c.8233A>G (p.Ile2745Val) rs747284663 0.00002
NM_004415.4(DSP):c.8372G>A (p.Arg2791His) rs749339594 0.00002
NM_004415.4(DSP):c.8374T>A (p.Ser2792Thr) rs727504570 0.00002
NM_004415.4(DSP):c.8402G>A (p.Arg2801His) rs763712887 0.00002
NM_004415.4(DSP):c.8477G>A (p.Arg2826His) rs548754771 0.00002
NM_004415.4(DSP):c.8536C>G (p.Arg2846Gly) rs397516972 0.00002
NM_004415.4(DSP):c.-15C>T rs780759932 0.00001
NM_004415.4(DSP):c.-7C>T rs769398552 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.1034A>G (p.Asp345Gly) rs753855393 0.00001
NM_004415.4(DSP):c.1045-3C>T rs765077011 0.00001
NM_004415.4(DSP):c.104G>C (p.Gly35Ala) rs202194206 0.00001
NM_004415.4(DSP):c.106G>A (p.Gly36Ser) rs1395509692 0.00001
NM_004415.4(DSP):c.1102A>T (p.Ile368Phe) rs794728112 0.00001
NM_004415.4(DSP):c.1136T>C (p.Phe379Ser) rs1064795084 0.00001
NM_004415.4(DSP):c.117G>T (p.Arg39Ser) rs748578019 0.00001
NM_004415.4(DSP):c.1197C>G (p.Ile399Met) rs375828592 0.00001
NM_004415.4(DSP):c.120G>A (p.Met40Ile) rs1377575571 0.00001
NM_004415.4(DSP):c.1216G>A (p.Asp406Asn) rs1758911711 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.1274G>A (p.Arg425Gln) rs397516916 0.00001
NM_004415.4(DSP):c.136G>A (p.Gly46Ser) rs371517189 0.00001
NM_004415.4(DSP):c.1378C>G (p.Pro460Ala) rs749422119 0.00001
NM_004415.4(DSP):c.1465G>A (p.Glu489Lys) rs904467199 0.00001
NM_004415.4(DSP):c.1468C>T (p.Arg490Cys) rs781084693 0.00001
NM_004415.4(DSP):c.1472G>A (p.Ser491Asn) rs930342643 0.00001
NM_004415.4(DSP):c.1502T>C (p.Val501Ala) rs544017143 0.00001
NM_004415.4(DSP):c.1561G>C (p.Asp521His) rs1449447405 0.00001
NM_004415.4(DSP):c.1574A>G (p.Lys525Arg) rs1468286343 0.00001
NM_004415.4(DSP):c.1577T>C (p.Ile526Thr) rs1561689358 0.00001
NM_004415.4(DSP):c.163G>T (p.Gly55Cys) rs1214660308 0.00001
NM_004415.4(DSP):c.1671A>G (p.Ile557Met) rs766505506 0.00001
NM_004415.4(DSP):c.1672G>C (p.Glu558Gln) rs774549648 0.00001
NM_004415.4(DSP):c.1685C>T (p.Ala562Val) rs767605301 0.00001
NM_004415.4(DSP):c.1693A>G (p.Ile565Val) rs1287232143 0.00001
NM_004415.4(DSP):c.1715G>A (p.Arg572Gln) rs370531666 0.00001
NM_004415.4(DSP):c.1730T>C (p.Met577Thr) rs141956992 0.00001
NM_004415.4(DSP):c.1731G>A (p.Met577Ile) rs794728101 0.00001
NM_004415.4(DSP):c.17G>A (p.Gly6Asp) rs1339636876 0.00001
NM_004415.4(DSP):c.181A>G (p.Thr61Ala) rs1380249575 0.00001
NM_004415.4(DSP):c.182C>T (p.Thr61Met) rs200250096 0.00001
NM_004415.4(DSP):c.1960G>A (p.Val654Ile) rs375629257 0.00001
NM_004415.4(DSP):c.1973A>G (p.Asn658Ser) rs749183448 0.00001
NM_004415.4(DSP):c.2000G>C (p.Trp667Ser) rs760214732 0.00001
NM_004415.4(DSP):c.2026C>T (p.Arg676Cys) rs756249036 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.2158G>T (p.Ala720Ser) rs1180846023 0.00001
NM_004415.4(DSP):c.2186T>C (p.Met729Thr) rs758200210 0.00001
NM_004415.4(DSP):c.2192C>A (p.Ala731Asp) rs1280322841 0.00001
NM_004415.4(DSP):c.2260G>A (p.Glu754Lys) rs730880080 0.00001
NM_004415.4(DSP):c.2270A>G (p.Asn757Ser) rs372354883 0.00001
NM_004415.4(DSP):c.2287T>C (p.Tyr763His) rs1064794463 0.00001
NM_004415.4(DSP):c.2320C>T (p.Leu774Phe) rs1257755738 0.00001
NM_004415.4(DSP):c.2348T>C (p.Met783Thr) rs763144866 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.2441T>C (p.Ile814Thr) rs1393048121 0.00001
NM_004415.4(DSP):c.249G>A (p.Met83Ile) rs1426930663 0.00001
NM_004415.4(DSP):c.2550_2552dup (p.Leu851dup) rs730880373 0.00001
NM_004415.4(DSP):c.2609T>C (p.Ile870Thr) rs534413559 0.00001
NM_004415.4(DSP):c.2617C>G (p.Gln873Glu) rs794728118 0.00001
NM_004415.4(DSP):c.2619G>A (p.Gln873=) rs1195561524 0.00001
NM_004415.4(DSP):c.2623G>A (p.Asp875Asn) rs200338012 0.00001
NM_004415.4(DSP):c.2644G>A (p.Glu882Lys) rs730880081 0.00001
NM_004415.4(DSP):c.265G>A (p.Val89Met) rs766022243 0.00001
NM_004415.4(DSP):c.2698A>G (p.Lys900Glu) rs371493210 0.00001
NM_004415.4(DSP):c.26C>A (p.Pro9Gln) rs1303669220 0.00001
NM_004415.4(DSP):c.2735T>C (p.Leu912Ser) rs765831604 0.00001
NM_004415.4(DSP):c.279G>C (p.Leu93Phe) rs1447901875 0.00001
NM_004415.4(DSP):c.2822G>A (p.Arg941Gln) rs759869347 0.00001
NM_004415.4(DSP):c.2828A>C (p.Lys943Thr) rs1279814161 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.2863G>A (p.Ala955Thr) rs190421916 0.00001
NM_004415.4(DSP):c.2878-15_2878-14del rs763029451 0.00001
NM_004415.4(DSP):c.2884G>A (p.Glu962Lys) rs1289962465 0.00001
NM_004415.4(DSP):c.2887C>T (p.Leu963Phe) rs779931043 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.2933T>A (p.Ile978Lys) rs1060500615 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.2993A>T (p.Asp998Val) rs752344739 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.3059T>C (p.Met1020Thr) rs773331618 0.00001
NM_004415.4(DSP):c.3075A>C (p.Glu1025Asp) rs1233773861 0.00001
NM_004415.4(DSP):c.308G>A (p.Arg103Gln) rs775015862 0.00001
NM_004415.4(DSP):c.3136G>A (p.Asp1046Asn) rs1759341863 0.00001
NM_004415.4(DSP):c.314G>A (p.Arg105Gln) rs762238621 0.00001
NM_004415.4(DSP):c.3218A>T (p.Lys1073Ile) rs1759344349 0.00001
NM_004415.4(DSP):c.3277G>A (p.Ala1093Thr) rs1185986064 0.00001
NM_004415.4(DSP):c.3343A>G (p.Thr1115Ala) rs761524542 0.00001
NM_004415.4(DSP):c.334G>T (p.Ala112Ser) rs758746580 0.00001
NM_004415.4(DSP):c.3388G>A (p.Asp1130Asn) rs765769174 0.00001
NM_004415.4(DSP):c.340G>A (p.Ala114Thr) rs751745906 0.00001
NM_004415.4(DSP):c.3508G>A (p.Glu1170Lys) rs139582608 0.00001
NM_004415.4(DSP):c.3512T>C (p.Ile1171Thr) rs762449180 0.00001
NM_004415.4(DSP):c.3526G>T (p.Val1176Phe) rs1261167694 0.00001
NM_004415.4(DSP):c.3550C>T (p.Arg1184Trp) rs761331634 0.00001
NM_004415.4(DSP):c.3565G>A (p.Glu1189Lys) rs866149042 0.00001
NM_004415.4(DSP):c.3625A>C (p.Lys1209Gln) rs1283110287 0.00001
NM_004415.4(DSP):c.3633A>C (p.Glu1211Asp) rs1759362068 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.3715C>T (p.Leu1239Phe) rs752645827 0.00001
NM_004415.4(DSP):c.3742G>A (p.Asp1248Asn) rs989348634 0.00001
NM_004415.4(DSP):c.3754G>A (p.Glu1252Lys) rs1262533485 0.00001
NM_004415.4(DSP):c.3757A>C (p.Ile1253Leu) rs924651718 0.00001
NM_004415.4(DSP):c.3760G>A (p.Val1254Ile) rs778448699 0.00001
NM_004415.4(DSP):c.3763A>G (p.Arg1255Gly) rs1477870659 0.00001
NM_004415.4(DSP):c.3806G>T (p.Arg1269Leu) rs876657795 0.00001
NM_004415.4(DSP):c.3820G>A (p.Ala1274Thr) rs1285435504 0.00001
NM_004415.4(DSP):c.385C>T (p.Arg129Trp) rs777763456 0.00001
NM_004415.4(DSP):c.3878T>C (p.Ile1293Thr) rs759823665 0.00001
NM_004415.4(DSP):c.3905G>A (p.Arg1302His) rs760691999 0.00001
NM_004415.4(DSP):c.3919G>A (p.Ala1307Thr) rs367579811 0.00001
NM_004415.4(DSP):c.3968A>G (p.Lys1323Arg) rs971198843 0.00001
NM_004415.4(DSP):c.3973A>C (p.Lys1325Gln) rs41302883 0.00001
NM_004415.4(DSP):c.4021C>T (p.Arg1341Cys) rs547568275 0.00001
NM_004415.4(DSP):c.4103C>T (p.Thr1368Ile) rs530481219 0.00001
NM_004415.4(DSP):c.4142C>G (p.Thr1381Ser) rs767174407 0.00001
NM_004415.4(DSP):c.4174C>T (p.Arg1392Trp) rs987487921 0.00001
NM_004415.4(DSP):c.423G>C (p.Arg141Ser) rs771688614 0.00001
NM_004415.4(DSP):c.4274G>A (p.Arg1425Lys) rs577560157 0.00001
NM_004415.4(DSP):c.4303G>C (p.Ala1435Pro) rs751972271 0.00001
NM_004415.4(DSP):c.4312T>C (p.Ser1438Pro) rs1561698695 0.00001
NM_004415.4(DSP):c.4405C>T (p.Leu1469Phe) rs752121953 0.00001
NM_004415.4(DSP):c.4448T>C (p.Ile1483Thr) rs745872344 0.00001
NM_004415.4(DSP):c.4513G>A (p.Ala1505Thr) rs1488770025 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.466A>G (p.Ile156Val) rs774706853 0.00001
NM_004415.4(DSP):c.4678C>G (p.Gln1560Glu) rs773320949 0.00001
NM_004415.4(DSP):c.4684T>C (p.Ser1562Pro) rs1394590334 0.00001
NM_004415.4(DSP):c.46C>A (p.Arg16Ser) rs754773488 0.00001
NM_004415.4(DSP):c.4717G>A (p.Val1573Met) rs370171270 0.00001
NM_004415.4(DSP):c.4735C>T (p.Arg1579Trp) rs755868373 0.00001
NM_004415.4(DSP):c.4736G>A (p.Arg1579Gln) rs397516942 0.00001
NM_004415.4(DSP):c.4748C>G (p.Thr1583Ser) rs778603023 0.00001
NM_004415.4(DSP):c.4754C>T (p.Ser1585Leu) rs773622004 0.00001
NM_004415.4(DSP):c.479G>A (p.Arg160Gln) rs752941845 0.00001
NM_004415.4(DSP):c.4859A>G (p.Glu1620Gly) rs1423503309 0.00001
NM_004415.4(DSP):c.4870A>G (p.Ile1624Val) rs1244793317 0.00001
NM_004415.4(DSP):c.4871T>C (p.Ile1624Thr) rs771250599 0.00001
NM_004415.4(DSP):c.4916T>G (p.Val1639Gly) rs1304994640 0.00001
NM_004415.4(DSP):c.4961T>C (p.Leu1654Pro) rs749730642 0.00001
NM_004415.4(DSP):c.4984G>A (p.Glu1662Lys) rs1401910635 0.00001
NM_004415.4(DSP):c.5062G>A (p.Ala1688Thr) rs757753880 0.00001
NM_004415.4(DSP):c.5107A>T (p.Ile1703Phe) rs868035157 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.5174G>A (p.Arg1725Gln) rs1759434677 0.00001
NM_004415.4(DSP):c.5186T>G (p.Leu1729Arg) rs377344768 0.00001
NM_004415.4(DSP):c.5221G>A (p.Ala1741Thr) rs777773801 0.00001
NM_004415.4(DSP):c.5222C>T (p.Ala1741Val) rs749124581 0.00001
NM_004415.4(DSP):c.5249T>G (p.Leu1750Trp) rs1759438511 0.00001
NM_004415.4(DSP):c.5284C>T (p.Arg1762Trp) rs766833113 0.00001
NM_004415.4(DSP):c.52A>C (p.Ile18Leu) rs1309975219 0.00001
NM_004415.4(DSP):c.535G>A (p.Gly179Ser) rs774829433 0.00001
NM_004415.4(DSP):c.5396A>G (p.Gln1799Arg) rs987386495 0.00001
NM_004415.4(DSP):c.5507T>C (p.Leu1836Pro) rs1759480891 0.00001
NM_004415.4(DSP):c.5512C>T (p.Arg1838Cys) rs756481791 0.00001
NM_004415.4(DSP):c.5522C>T (p.Ser1841Leu) rs397516947 0.00001
NM_004415.4(DSP):c.5572C>G (p.Gln1858Glu) rs1474132784 0.00001
NM_004415.4(DSP):c.5594A>G (p.Asn1865Ser) rs780714982 0.00001
NM_004415.4(DSP):c.5647T>C (p.Ser1883Pro) rs1056652234 0.00001
NM_004415.4(DSP):c.5648C>T (p.Ser1883Leu) rs1418959797 0.00001
NM_004415.4(DSP):c.5651A>G (p.Glu1884Gly) rs1414563217 0.00001
NM_004415.4(DSP):c.5656G>C (p.Glu1886Gln) rs776728790 0.00001
NM_004415.4(DSP):c.5657A>G (p.Glu1886Gly) rs1759489572 0.00001
NM_004415.4(DSP):c.5757T>G (p.Asp1919Glu) rs727504871 0.00001
NM_004415.4(DSP):c.5779C>G (p.Gln1927Glu) rs794728104 0.00001
NM_004415.4(DSP):c.5801G>A (p.Arg1934Gln) rs1471613374 0.00001
NM_004415.4(DSP):c.5822A>C (p.Lys1941Thr) rs143484124 0.00001
NM_004415.4(DSP):c.582G>T (p.Trp194Cys) rs1345570966 0.00001
NM_004415.4(DSP):c.5833C>T (p.Arg1945Cys) rs1456378645 0.00001
NM_004415.4(DSP):c.5834G>A (p.Arg1945His) rs759516161 0.00001
NM_004415.4(DSP):c.5852G>A (p.Arg1951Gln) rs1210722098 0.00001
NM_004415.4(DSP):c.5875T>C (p.Trp1959Arg) rs1759501923 0.00001
NM_004415.4(DSP):c.5881G>A (p.Val1961Ile) rs368869076 0.00001
NM_004415.4(DSP):c.5933T>C (p.Met1978Thr) rs1322656621 0.00001
NM_004415.4(DSP):c.5959G>A (p.Asp1987Asn) rs759443302 0.00001
NM_004415.4(DSP):c.5963A>G (p.Lys1988Arg) rs767516148 0.00001
NM_004415.4(DSP):c.5984T>C (p.Leu1995Ser) rs794728128 0.00001
NM_004415.4(DSP):c.599C>T (p.Ala200Val) rs1337095425 0.00001
NM_004415.4(DSP):c.6008A>G (p.Glu2003Gly) rs1457667981 0.00001
NM_004415.4(DSP):c.6014C>T (p.Ala2005Val) rs749925817 0.00001
NM_004415.4(DSP):c.6038G>A (p.Arg2013Gln) rs557263443 0.00001
NM_004415.4(DSP):c.6043G>A (p.Ala2015Thr) rs1200353349 0.00001
NM_004415.4(DSP):c.6047G>A (p.Gly2016Glu) rs771165835 0.00001
NM_004415.4(DSP):c.6086A>G (p.Tyr2029Cys) rs753271305 0.00001
NM_004415.4(DSP):c.6112A>C (p.Lys2038Gln) rs185846631 0.00001
NM_004415.4(DSP):c.6137T>G (p.Val2046Gly) rs746016404 0.00001
NM_004415.4(DSP):c.6141G>C (p.Met2047Ile) rs374226658 0.00001
NM_004415.4(DSP):c.6223C>T (p.Arg2075Trp) rs751050235 0.00001
NM_004415.4(DSP):c.6233T>C (p.Ile2078Thr) rs377035113 0.00001
NM_004415.4(DSP):c.6235G>C (p.Asp2079His) rs992731463 0.00001
NM_004415.4(DSP):c.6241G>A (p.Asp2081Asn) rs779129603 0.00001
NM_004415.4(DSP):c.6269A>G (p.Glu2090Gly) rs755069593 0.00001
NM_004415.4(DSP):c.6325G>A (p.Glu2109Lys) rs397516951 0.00001
NM_004415.4(DSP):c.6332T>C (p.Ile2111Thr) rs370865499 0.00001
NM_004415.4(DSP):c.6340A>G (p.Asn2114Asp) rs561452524 0.00001
NM_004415.4(DSP):c.6346A>G (p.Ile2116Val) rs777184414 0.00001
NM_004415.4(DSP):c.6385A>G (p.Ile2129Val) rs755981187 0.00001
NM_004415.4(DSP):c.6415A>G (p.Asn2139Asp) rs762434061 0.00001
NM_004415.4(DSP):c.6464A>G (p.Asp2155Gly) rs752740718 0.00001
NM_004415.4(DSP):c.6497G>A (p.Arg2166Gln) rs771692503 0.00001
NM_004415.4(DSP):c.652A>G (p.Ile218Val) rs987363401 0.00001
NM_004415.4(DSP):c.6564A>C (p.Glu2188Asp) rs759929036 0.00001
NM_004415.4(DSP):c.6572G>A (p.Arg2191Lys) rs527888978 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.677A>G (p.Asn226Ser) rs921332894 0.00001
NM_004415.4(DSP):c.67G>A (p.Gly23Ser) rs1757993019 0.00001
NM_004415.4(DSP):c.6851G>A (p.Arg2284Gln) rs1273566858 0.00001
NM_004415.4(DSP):c.6880G>A (p.Ala2294Thr) rs1422022096 0.00001
NM_004415.4(DSP):c.6919A>G (p.Asn2307Asp) rs1055504283 0.00001
NM_004415.4(DSP):c.692A>G (p.Tyr231Cys) rs770210088 0.00001
NM_004415.4(DSP):c.6932C>T (p.Pro2311Leu) rs768947332 0.00001
NM_004415.4(DSP):c.6947A>G (p.Tyr2316Cys) rs765245807 0.00001
NM_004415.4(DSP):c.7162G>A (p.Val2388Ile) rs370490538 0.00001
NM_004415.4(DSP):c.7193A>G (p.Asn2398Ser) rs1251606363 0.00001
NM_004415.4(DSP):c.721G>A (p.Asp241Asn) rs868293429 0.00001
NM_004415.4(DSP):c.7235C>A (p.Thr2412Asn) rs775399575 0.00001
NM_004415.4(DSP):c.7279C>A (p.Leu2427Met) rs555784793 0.00001
NM_004415.4(DSP):c.7360C>G (p.Gln2454Glu) rs373890201 0.00001
NM_004415.4(DSP):c.7390C>T (p.Arg2464Cys) rs778822920 0.00001
NM_004415.4(DSP):c.740C>T (p.Ala247Val) rs544360130 0.00001
NM_004415.4(DSP):c.7433C>T (p.Ser2478Phe) rs1759570987 0.00001
NM_004415.4(DSP):c.7451A>G (p.Lys2484Arg) rs1346398330 0.00001
NM_004415.4(DSP):c.7465G>A (p.Asp2489Asn) rs760552749 0.00001
NM_004415.4(DSP):c.7534G>T (p.Asp2512Tyr) rs772574987 0.00001
NM_004415.4(DSP):c.7549G>T (p.Val2517Leu) rs764359340 0.00001
NM_004415.4(DSP):c.7589T>C (p.Ile2530Thr) rs768564872 0.00001
NM_004415.4(DSP):c.7618G>A (p.Asp2540Asn) rs761136328 0.00001
NM_004415.4(DSP):c.7632T>G (p.Phe2544Leu) rs1759584747 0.00001
NM_004415.4(DSP):c.764A>T (p.Tyr255Phe) rs1490279963 0.00001
NM_004415.4(DSP):c.7702G>A (p.Gly2568Ser) rs139486943 0.00001
NM_004415.4(DSP):c.7735G>A (p.Asp2579Asn) rs750744914 0.00001
NM_004415.4(DSP):c.7751G>A (p.Ser2584Asn) rs1186385876 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.7855A>G (p.Ile2619Val) rs767630308 0.00001
NM_004415.4(DSP):c.7864A>G (p.Ile2622Val) rs752616130 0.00001
NM_004415.4(DSP):c.7876G>C (p.Glu2626Gln) rs144821643 0.00001
NM_004415.4(DSP):c.7924G>A (p.Val2642Ile) rs869025397 0.00001
NM_004415.4(DSP):c.7937C>T (p.Thr2646Met) rs1425701789 0.00001
NM_004415.4(DSP):c.794G>A (p.Arg265Lys) rs1064796438 0.00001
NM_004415.4(DSP):c.796A>C (p.Met266Leu) rs1758827543 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.8042A>C (p.Asp2681Ala) rs746166372 0.00001
NM_004415.4(DSP):c.8050A>G (p.Met2684Val) rs147801650 0.00001
NM_004415.4(DSP):c.809G>A (p.Arg270Gln) rs1203795810 0.00001
NM_004415.4(DSP):c.8118G>C (p.Lys2706Asn) rs751201132 0.00001
NM_004415.4(DSP):c.8216C>T (p.Pro2739Leu) rs761527198 0.00001
NM_004415.4(DSP):c.8221G>A (p.Val2741Met) rs779485431 0.00001
NM_004415.4(DSP):c.8275C>T (p.Arg2759Cys) rs148254632 0.00001
NM_004415.4(DSP):c.8278G>A (p.Ala2760Thr) rs991726607 0.00001
NM_004415.4(DSP):c.8279C>T (p.Ala2760Val) rs774309765 0.00001
NM_004415.4(DSP):c.8309A>G (p.Tyr2770Cys) rs371020228 0.00001
NM_004415.4(DSP):c.8330C>A (p.Pro2777His) rs376273136 0.00001
NM_004415.4(DSP):c.836C>T (p.Thr279Met) rs1758829264 0.00001
NM_004415.4(DSP):c.8386G>A (p.Asp2796Asn) rs943247894 0.00001
NM_004415.4(DSP):c.8390T>C (p.Ile2797Thr) rs769734918 0.00001
NM_004415.4(DSP):c.8392A>T (p.Thr2798Ser) rs771976131 0.00001
NM_004415.4(DSP):c.8426C>T (p.Ser2809Leu) rs1355303627 0.00001
NM_004415.4(DSP):c.8440C>T (p.Pro2814Ser) rs1303168294 0.00001
NM_004415.4(DSP):c.8453A>T (p.Asn2818Ile) rs1481465109 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.8525G>A (p.Arg2842His) rs1581827020 0.00001
NM_004415.4(DSP):c.8608G>A (p.Gly2870Arg) rs1258855325 0.00001
NM_004415.4(DSP):c.900C>A (p.Asp300Glu) rs374335702 0.00001
NM_004415.4(DSP):c.946A>G (p.Met316Val) rs201672777 0.00001
NM_004415.4(DSP):c.965A>G (p.Lys322Arg) rs757098196 0.00001
NM_004415.4(DSP):c.976C>T (p.Leu326Phe) rs117961973 0.00001
NM_004415.4(DSP):c.97G>A (p.Gly33Ser) rs1581777550 0.00001
NM_004415.4(DSP):c.998G>A (p.Ser333Asn) rs749695729 0.00001
NM_004415.4(DSP):c.*2A>G rs999254229
NM_004415.4(DSP):c.1006C>T (p.Leu336Phe) rs759818187
NM_004415.4(DSP):c.1044G>A (p.Glu348=) rs1758868593
NM_004415.4(DSP):c.1052T>C (p.Met351Thr) rs2113672417
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.1089G>C (p.Gln363His) rs751246453
NM_004415.4(DSP):c.1094C>G (p.Thr365Ser) rs754577019
NM_004415.4(DSP):c.1135T>A (p.Phe379Ile) rs757853478
NM_004415.4(DSP):c.1150G>C (p.Glu384Gln) rs1758908778
NM_004415.4(DSP):c.1204A>C (p.Lys402Gln)
NM_004415.4(DSP):c.1226T>C (p.Met409Thr) rs1758912290
NM_004415.4(DSP):c.1237C>T (p.His413Tyr) rs767210417
NM_004415.4(DSP):c.1239C>A (p.His413Gln) rs2533881992
NM_004415.4(DSP):c.1240C>G (p.Leu414Val) rs1758912999
NM_004415.4(DSP):c.1255A>G (p.Lys419Glu) rs2533882058
NM_004415.4(DSP):c.1264G>A (p.Glu422Lys) rs397516914
NM_004415.4(DSP):c.1274G>T (p.Arg425Leu) rs397516916
NM_004415.4(DSP):c.128C>T (p.Ser43Phe) rs1757997664
NM_004415.4(DSP):c.1292A>G (p.Tyr431Cys) rs1758929629
NM_004415.4(DSP):c.1379C>T (p.Pro460Leu) rs757300149
NM_004415.4(DSP):c.1416T>G (p.Asp472Glu) rs1758935121
NM_004415.4(DSP):c.1420-9G>C rs1758956235
NM_004415.4(DSP):c.1426G>A (p.Val476Met) rs367987327
NM_004415.4(DSP):c.1435G>C (p.Gly479Arg) rs1288305110
NM_004415.4(DSP):c.1463A>G (p.Asn488Ser) rs1561688442
NM_004415.4(DSP):c.146C>T (p.Thr49Ile) rs151153655
NM_004415.4(DSP):c.148G>C (p.Asp50His) rs1333529244
NM_004415.4(DSP):c.1492C>G (p.Pro498Ala) rs1581803474
NM_004415.4(DSP):c.1504G>A (p.Asp502Asn) rs750547425
NM_004415.4(DSP):c.1511T>C (p.Leu504Pro)
NM_004415.4(DSP):c.1519T>C (p.Ser507Pro) rs1758967074
NM_004415.4(DSP):c.153G>C (p.Gln51His) rs1450725914
NM_004415.4(DSP):c.1548C>G (p.Asn516Lys) rs1407207091
NM_004415.4(DSP):c.154A>G (p.Asn52Asp) rs2113629165
NM_004415.4(DSP):c.1563C>A (p.Asp521Glu) rs113378925
NM_004415.4(DSP):c.157T>C (p.Ser53Pro) rs397516918
NM_004415.4(DSP):c.158C>T (p.Ser53Leu) rs1398517175
NM_004415.4(DSP):c.1601T>C (p.Leu534Ser) rs1759009878
NM_004415.4(DSP):c.1603G>A (p.Ala535Thr) rs777088675
NM_004415.4(DSP):c.1614C>G (p.Asn538Lys) rs1759010824
NM_004415.4(DSP):c.167A>G (p.Tyr56Cys) rs2533801792
NM_004415.4(DSP):c.170+3G>A rs1758001924
NM_004415.4(DSP):c.1714C>T (p.Arg572Trp) rs796851273
NM_004415.4(DSP):c.1729A>C (p.Met577Leu) rs764127243
NM_004415.4(DSP):c.1775G>T (p.Arg592Ile) rs1759048949
NM_004415.4(DSP):c.1817G>A (p.Arg606Gln) rs576661499
NM_004415.4(DSP):c.1826A>G (p.Gln609Arg) rs1759051294
NM_004415.4(DSP):c.1833G>C (p.Gln611His) rs2533894363
NM_004415.4(DSP):c.185T>C (p.Met62Thr) rs1758488043
NM_004415.4(DSP):c.186G>A (p.Met62Ile) rs1758488135
NM_004415.4(DSP):c.1874A>T (p.Gln625Leu) rs1759053331
NM_004415.4(DSP):c.1880C>T (p.Pro627Leu) rs2113679213
NM_004415.4(DSP):c.1903+3del rs1064793548
NM_004415.4(DSP):c.1920C>G (p.Ile640Met) rs74806300
NM_004415.4(DSP):c.1924C>T (p.His642Tyr) rs1759063948
NM_004415.4(DSP):c.1927C>G (p.His643Asp) rs1759064034
NM_004415.4(DSP):c.1928A>G (p.His643Arg) rs1759064128
NM_004415.4(DSP):c.192G>T (p.Arg64Ser) rs908789038
NM_004415.4(DSP):c.1937G>A (p.Cys646Tyr) rs977527385
NM_004415.4(DSP):c.1943A>T (p.Asp648Val) rs1759064728
NM_004415.4(DSP):c.194A>T (p.His65Leu) rs771190708
NM_004415.4(DSP):c.1952A>G (p.His651Arg) rs1759065265
NM_004415.4(DSP):c.1970C>T (p.Thr657Ile) rs1014373689
NM_004415.4(DSP):c.1976_1987del (p.Arg659_Asp662del) rs1554107128
NM_004415.4(DSP):c.1984G>A (p.Asp662Asn) rs1759067108
NM_004415.4(DSP):c.1999T>C (p.Trp667Arg) rs1411393602
NM_004415.4(DSP):c.1A>G (p.Met1Val) rs1131691557
NM_004415.4(DSP):c.2002A>G (p.Met668Val) rs763652996
NM_004415.4(DSP):c.2012A>G (p.Glu671Gly) rs758530970
NM_004415.4(DSP):c.2035A>G (p.Ile679Val) rs1759070407
NM_004415.4(DSP):c.2059A>T (p.Thr687Ser) rs1453986984
NM_004415.4(DSP):c.2077C>G (p.Leu693Val) rs1339486272
NM_004415.4(DSP):c.2087A>G (p.Gln696Arg) rs1759072711
NM_004415.4(DSP):c.2095T>C (p.Ser699Pro)
NM_004415.4(DSP):c.209C>T (p.Thr70Ile) rs2113653829
NM_004415.4(DSP):c.2130+6dup rs1759074746
NM_004415.4(DSP):c.2132G>A (p.Ser711Asn) rs2533903051
NM_004415.4(DSP):c.2134G>T (p.Val712Leu) rs397516922
NM_004415.4(DSP):c.2153C>G (p.Ala718Gly)
NM_004415.4(DSP):c.2153C>T (p.Ala718Val) rs764290255
NM_004415.4(DSP):c.2155A>C (p.Ile719Leu) rs1057520654
NM_004415.4(DSP):c.2161G>A (p.Glu721Lys) rs963374775
NM_004415.4(DSP):c.2164G>A (p.Val722Ile) rs1581808686
NM_004415.4(DSP):c.2164G>T (p.Val722Phe) rs1581808686
NM_004415.4(DSP):c.2168T>C (p.Leu723Pro) rs1554107443
NM_004415.4(DSP):c.2171A>G (p.Asn724Ser) rs757299922
NM_004415.4(DSP):c.2186T>A (p.Met729Lys) rs758200210
NM_004415.4(DSP):c.2196C>G (p.Asn732Lys) rs1424884336
NM_004415.4(DSP):c.2204G>T (p.Gly735Val) rs1759154089
NM_004415.4(DSP):c.2221_2223delinsCAG (p.Tyr741Gln) rs2533903618
NM_004415.4(DSP):c.2234A>C (p.Glu745Ala) rs969462343
NM_004415.4(DSP):c.2298-11G>C rs2533905824
NM_004415.4(DSP):c.2299T>G (p.Leu767Val) rs1561692940
NM_004415.4(DSP):c.2303G>A (p.Cys768Tyr) rs1759176721
NM_004415.4(DSP):c.2308G>C (p.Val770Leu) rs1225927424
NM_004415.4(DSP):c.2326G>A (p.Ala776Thr) rs1759178969
NM_004415.4(DSP):c.2333T>C (p.Leu778Pro) rs1337668206
NM_004415.4(DSP):c.2353A>C (p.Lys785Gln) rs1759181057
NM_004415.4(DSP):c.2390T>C (p.Val797Ala) rs2113684220
NM_004415.4(DSP):c.2404G>A (p.Asp802Asn) rs770105310
NM_004415.4(DSP):c.2435A>T (p.Lys812Met) rs1268969488
NM_004415.4(DSP):c.243C>T (p.Cys81=) rs947998304
NM_004415.4(DSP):c.2450A>C (p.Asp817Ala) rs533471835
NM_004415.4(DSP):c.2489C>T (p.Thr830Ile) rs1274497690
NM_004415.4(DSP):c.2528C>T (p.Ser843Leu) rs1057518920
NM_004415.4(DSP):c.2542C>G (p.Leu848Val)
NM_004415.4(DSP):c.2549A>G (p.Asp850Gly) rs1759208321
NM_004415.4(DSP):c.2555A>G (p.Asp852Gly) rs1561693903
NM_004415.4(DSP):c.2575A>G (p.Lys859Glu) rs1759209975
NM_004415.4(DSP):c.2582C>T (p.Thr861Ile) rs1759210367
NM_004415.4(DSP):c.2611G>A (p.Asp871Asn) rs1349062757
NM_004415.4(DSP):c.2620A>T (p.Ile874Phe) rs1759212430
NM_004415.4(DSP):c.2623G>C (p.Asp875His) rs200338012
NM_004415.4(DSP):c.2631-13dup rs1455610668
NM_004415.4(DSP):c.2674C>G (p.Arg892Gly) rs750800025
NM_004415.4(DSP):c.2687A>G (p.Gln896Arg) rs2113686568
NM_004415.4(DSP):c.2723G>T (p.Arg908Leu) rs142494121
NM_004415.4(DSP):c.2737G>A (p.Glu913Lys)
NM_004415.4(DSP):c.2743A>T (p.Met915Leu) rs1317345069
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.2770A>G (p.Met924Val) rs2113686779
NM_004415.4(DSP):c.2834A>G (p.Glu945Gly) rs1759260761
NM_004415.4(DSP):c.2852C>T (p.Ala951Val) rs1418218757
NM_004415.4(DSP):c.286G>A (p.Gly96Arg) rs2113657461
NM_004415.4(DSP):c.2878-2A>T rs1759285602
NM_004415.4(DSP):c.2879A>G (p.Asp960Gly) rs1759285758
NM_004415.4(DSP):c.287G>C (p.Gly96Ala) rs748070943
NM_004415.4(DSP):c.2932A>G (p.Ile978Val) rs780823789
NM_004415.4(DSP):c.293G>C (p.Gly98Ala) rs1758555800
NM_004415.4(DSP):c.2950A>G (p.Met984Val) rs868110541
NM_004415.4(DSP):c.2951T>A (p.Met984Lys) rs1452300736
NM_004415.4(DSP):c.2986G>C (p.Ala996Pro) rs1254054471
NM_004415.4(DSP):c.2986G>T (p.Ala996Ser) rs1254054471
NM_004415.4(DSP):c.2994T>G (p.Asp998Glu) rs755610951
NM_004415.4(DSP):c.3005G>A (p.Arg1002Gln) rs371234425
NM_004415.4(DSP):c.3005G>C (p.Arg1002Pro) rs371234425
NM_004415.4(DSP):c.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.3085-3_3085delinsTTCGATCT rs2533922155
NM_004415.4(DSP):c.3099G>T (p.Lys1033Asn) rs1581814913
NM_004415.4(DSP):c.311G>A (p.Ser104Asn) rs2533849058
NM_004415.4(DSP):c.3125G>A (p.Arg1042Lys)
NM_004415.4(DSP):c.3140C>T (p.Ala1047Val) rs397516931
NM_004415.4(DSP):c.3155G>T (p.Cys1052Phe) rs2113691184
NM_004415.4(DSP):c.3172C>G (p.Leu1058Val) rs2533922495
NM_004415.4(DSP):c.3194A>T (p.Tyr1065Phe) rs1759343554
NM_004415.4(DSP):c.3254A>T (p.Gln1085Leu) rs2113691330
NM_004415.4(DSP):c.3282G>C (p.Lys1094Asn) rs2491080
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.3301T>C (p.Tyr1101His) rs1759347959
NM_004415.4(DSP):c.3304G>C (p.Gly1102Arg) rs2491079
NM_004415.4(DSP):c.3310A>C (p.Ile1104Leu) rs2113691466
NM_004415.4(DSP):c.3341T>C (p.Leu1114Pro) rs1759349625
NM_004415.4(DSP):c.3344C>T (p.Thr1115Ile) rs1393151720
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.3429G>C (p.Gln1143His) rs1759353161
NM_004415.4(DSP):c.3456C>A (p.Asn1152Lys) rs750557604
NM_004415.4(DSP):c.3458T>G (p.Leu1153Arg) rs1554108085
NM_004415.4(DSP):c.3461G>A (p.Gly1154Asp) rs2113691810
NM_004415.4(DSP):c.3465G>C (p.Trp1155Cys) rs1759354150
NM_004415.4(DSP):c.3490A>G (p.Ile1164Val) rs2533923939
NM_004415.4(DSP):c.34A>C (p.Asn12His) rs1757990554
NM_004415.4(DSP):c.3504G>T (p.Glu1168Asp) rs1490403808
NM_004415.4(DSP):c.3519G>C (p.Arg1173Ser)
NM_004415.4(DSP):c.3521T>C (p.Leu1174Ser) rs2533924122
NM_004415.4(DSP):c.3526G>A (p.Val1176Ile) rs1261167694
NM_004415.4(DSP):c.3536A>G (p.Gln1179Arg) rs1759357846
NM_004415.4(DSP):c.3544G>C (p.Gly1182Arg) rs1581815823
NM_004415.4(DSP):c.3557G>A (p.Arg1186Lys) rs1223608451
NM_004415.4(DSP):c.3626A>G (p.Lys1209Arg) rs1759361771
NM_004415.4(DSP):c.3642T>G (p.Ile1214Met) rs755908729
NM_004415.4(DSP):c.365A>G (p.Asp122Gly) rs1206577405
NM_004415.4(DSP):c.3704T>C (p.Leu1235Pro) rs1356943828
NM_004415.4(DSP):c.3712C>A (p.Gln1238Lys) rs767519046
NM_004415.4(DSP):c.373A>C (p.Ile125Leu)
NM_004415.4(DSP):c.3757A>T (p.Ile1253Phe) rs924651718
NM_004415.4(DSP):c.3759T>G (p.Ile1253Met) rs1196416496
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.3784C>G (p.Gln1262Glu) rs2113692628
NM_004415.4(DSP):c.3790A>G (p.Thr1264Ala) rs1299901124
NM_004415.4(DSP):c.3805C>G (p.Arg1269Gly) rs767643821
NM_004415.4(DSP):c.3806G>A (p.Arg1269Gln) rs876657795
NM_004415.4(DSP):c.3835G>T (p.Ala1279Ser) rs763915365
NM_004415.4(DSP):c.3864G>T (p.Lys1288Asn) rs768166626
NM_004415.4(DSP):c.3880G>A (p.Glu1294Lys) rs2533926446
NM_004415.4(DSP):c.3919G>T (p.Ala1307Ser) rs367579811
NM_004415.4(DSP):c.3956C>T (p.Thr1319Ile) rs138599871
NM_004415.4(DSP):c.397C>G (p.Gln133Glu) rs868854123
NM_004415.4(DSP):c.3981C>G (p.Ile1327Met) rs397516934
NM_004415.4(DSP):c.3982G>A (p.Glu1328Lys) rs746208168
NM_004415.4(DSP):c.3985A>G (p.Arg1329Gly) rs2533926927
NM_004415.4(DSP):c.3989T>A (p.Leu1330His) rs2533926953
NM_004415.4(DSP):c.4018C>G (p.Arg1340Gly) rs768628788
NM_004415.4(DSP):c.4018C>T (p.Arg1340Cys) rs768628788
NM_004415.4(DSP):c.4022G>T (p.Arg1341Leu) rs112242645
NM_004415.4(DSP):c.4034A>C (p.Glu1345Ala) rs201964660
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.4107_4108delinsTG (p.Glu1369_Ile1370delinsAspVal) rs1759384287
NM_004415.4(DSP):c.4130T>A (p.Ile1377Asn) rs1215591946
NM_004415.4(DSP):c.4172A>C (p.Tyr1391Ser) rs727504547
NM_004415.4(DSP):c.4201G>C (p.Glu1401Gln) rs774065012
NM_004415.4(DSP):c.4211G>A (p.Ser1404Asn) rs1759389281
NM_004415.4(DSP):c.422+3A>G rs1758564707
NM_004415.4(DSP):c.4252C>G (p.Gln1418Glu) rs763652056
NM_004415.4(DSP):c.4259C>T (p.Thr1420Ile) rs2533928025
NM_004415.4(DSP):c.4261G>A (p.Glu1421Lys) rs769965019
NM_004415.4(DSP):c.4322C>G (p.Ser1441Cys) rs924715751
NM_004415.4(DSP):c.4337A>G (p.Gln1446Arg) rs2533928287
NM_004415.4(DSP):c.434T>A (p.Leu145His) rs2533853081
NM_004415.4(DSP):c.4355G>T (p.Arg1452Ile) rs2533928353
NM_004415.4(DSP):c.4384A>G (p.Ser1462Gly) rs1759397094
NM_004415.4(DSP):c.4385_4386delinsTT (p.Ser1462Ile) rs730880090
NM_004415.4(DSP):c.4403C>G (p.Ser1468Cys) rs1759398862
NM_004415.4(DSP):c.4405C>G (p.Leu1469Val) rs752121953
NM_004415.4(DSP):c.4420A>G (p.Lys1474Glu) rs1235007628
NM_004415.4(DSP):c.4421A>G (p.Lys1474Arg) rs756456881
NM_004415.4(DSP):c.4441A>G (p.Lys1481Glu) rs1759400634
NM_004415.4(DSP):c.4447A>G (p.Ile1483Val) rs775143161
NM_004415.4(DSP):c.4469T>C (p.Ile1490Thr) rs1169999963
NM_004415.4(DSP):c.4490G>C (p.Arg1497Pro) rs727505037
NM_004415.4(DSP):c.4493A>C (p.Lys1498Thr)
NM_004415.4(DSP):c.4502A>G (p.Glu1501Gly) rs1759403946
NM_004415.4(DSP):c.451G>T (p.Ala151Ser) rs1758601354
NM_004415.4(DSP):c.4527_4559del (p.Arg1509_Ser1519del) rs397516939
NM_004415.4(DSP):c.4541T>C (p.Leu1514Pro) rs1173680775
NM_004415.4(DSP):c.4558A>G (p.Ser1520Gly) rs780953141
NM_004415.4(DSP):c.4558A>T (p.Ser1520Cys) rs780953141
NM_004415.4(DSP):c.4571C>A (p.Thr1524Lys) rs397516941
NM_004415.4(DSP):c.4571C>T (p.Thr1524Ile) rs397516941
NM_004415.4(DSP):c.4595A>G (p.Glu1532Gly) rs1759408509
NM_004415.4(DSP):c.4629A>C (p.Glu1543Asp) rs1759410036
NM_004415.4(DSP):c.4636T>C (p.Ser1546Pro) rs1280704171
NM_004415.4(DSP):c.4696CTGCAG[1] (p.1566LQ[1]) rs1379223945
NM_004415.4(DSP):c.4745G>A (p.Arg1582Lys)
NM_004415.4(DSP):c.4748C>T (p.Thr1583Ile) rs778603023
NM_004415.4(DSP):c.4750G>C (p.Ala1584Pro) rs191778417
NM_004415.4(DSP):c.4751C>T (p.Ala1584Val) rs748619817
NM_004415.4(DSP):c.4763_4765del (p.Ser1588del) rs1010996982
NM_004415.4(DSP):c.4787A>G (p.Glu1596Gly) rs2113694907
NM_004415.4(DSP):c.4796A>G (p.Glu1599Gly) rs1759417690
NM_004415.4(DSP):c.47G>A (p.Arg16His) rs752387234
NM_004415.4(DSP):c.47G>C (p.Arg16Pro) rs752387234
NM_004415.4(DSP):c.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.4877AGA[1] (p.Lys1627del) rs1466413837
NM_004415.4(DSP):c.4879A>G (p.Lys1627Glu) rs774563557
NM_004415.4(DSP):c.4894G>A (p.Asp1632Asn) rs747279731
NM_004415.4(DSP):c.4901G>T (p.Arg1634Leu) rs144106775
NM_004415.4(DSP):c.490G>A (p.Ala164Thr)
NM_004415.4(DSP):c.4910G>T (p.Arg1637Met) rs1759423209
NM_004415.4(DSP):c.4913A>G (p.Asp1638Gly) rs1759423375
NM_004415.4(DSP):c.4914C>G (p.Asp1638Glu)
NM_004415.4(DSP):c.4919T>G (p.Leu1640Arg) rs2533930853
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.502G>A (p.Gly168Ser) rs1308747530
NM_004415.4(DSP):c.5030A>C (p.Gln1677Pro) rs1759429222
NM_004415.4(DSP):c.5032G>A (p.Ala1678Thr) rs1759429339
NM_004415.4(DSP):c.5033C>T (p.Ala1678Val) rs1759429468
NM_004415.4(DSP):c.5065A>C (p.Ile1689Leu) rs1043797322
NM_004415.4(DSP):c.506G>C (p.Gly169Ala) rs1758605175
NM_004415.4(DSP):c.5094A>C (p.Glu1698Asp) rs1759431545
NM_004415.4(DSP):c.5120A>G (p.Gln1707Arg) rs768870428
NM_004415.4(DSP):c.5125C>T (p.Leu1709Phe) rs1759432908
NM_004415.4(DSP):c.512_513delinsAA (p.Gly171Glu) rs1758605814
NM_004415.4(DSP):c.5134A>T (p.Asn1712Tyr) rs2113695647
NM_004415.4(DSP):c.5135A>T (p.Asn1712Ile) rs1759433132
NM_004415.4(DSP):c.5149C>G (p.His1717Asp) rs1759433551
NM_004415.4(DSP):c.5161GAA[2] (p.Glu1723del) rs730880091
NM_004415.4(DSP):c.5197_5198delinsAC (p.Asp1733Thr) rs2113695804
NM_004415.4(DSP):c.521G>C (p.Cys174Ser)
NM_004415.4(DSP):c.5227A>G (p.Ser1743Gly) rs1759437499
NM_004415.4(DSP):c.524A>G (p.Gln175Arg) rs1758606565
NM_004415.4(DSP):c.5265G>C (p.Gln1755His) rs1759438957
NM_004415.4(DSP):c.5315A>G (p.Asp1772Gly) rs1759440895
NM_004415.4(DSP):c.5321A>G (p.Gln1774Arg) rs2533932562
NM_004415.4(DSP):c.5326G>A (p.Glu1776Lys) rs1759441333
NM_004415.4(DSP):c.5353_5355delinsAAA (p.Glu1785Lys) rs1759442103
NM_004415.4(DSP):c.5358A>T (p.Lys1786Asn)
NM_004415.4(DSP):c.5380-4C>G rs756405593
NM_004415.4(DSP):c.5413T>C (p.Cys1805Arg) rs746731287
NM_004415.4(DSP):c.5414G>T (p.Cys1805Phe) rs768161038
NM_004415.4(DSP):c.5441G>A (p.Ser1814Asn) rs730880085
NM_004415.4(DSP):c.5479G>A (p.Ala1827Thr) rs747643627
NM_004415.4(DSP):c.5513G>T (p.Arg1838Leu) rs377715841
NM_004415.4(DSP):c.5515G>A (p.Ala1839Thr) rs1759481360
NM_004415.4(DSP):c.5553G>C (p.Gln1851His) rs1259972571
NM_004415.4(DSP):c.5563T>C (p.Cys1855Arg) rs1453126950
NM_004415.4(DSP):c.5570A>C (p.Lys1857Thr) rs1178938416
NM_004415.4(DSP):c.5579T>C (p.Ile1860Thr) rs1360244764
NM_004415.4(DSP):c.557A>T (p.His186Leu) rs1033990351
NM_004415.4(DSP):c.5597A>G (p.Gln1866Arg) rs1231425417
NM_004415.4(DSP):c.55C>T (p.Arg19Cys) rs777340009
NM_004415.4(DSP):c.560T>G (p.Val187Gly) rs2533853933
NM_004415.4(DSP):c.5618G>T (p.Arg1873Leu) rs776088292
NM_004415.4(DSP):c.5626G>A (p.Glu1876Lys) rs1252594295
NM_004415.4(DSP):c.5642T>C (p.Ile1881Thr) rs1192963820
NM_004415.4(DSP):c.5647T>G (p.Ser1883Ala) rs1056652234
NM_004415.4(DSP):c.5683C>G (p.Leu1895Val) rs1159494439
NM_004415.4(DSP):c.5687G>C (p.Arg1896Thr) rs766335041
NM_004415.4(DSP):c.5692G>C (p.Glu1898Gln) rs1759492368
NM_004415.4(DSP):c.5699A>G (p.Glu1900Gly) rs1759492981
NM_004415.4(DSP):c.5700A>C (p.Glu1900Asp)
NM_004415.4(DSP):c.5711C>T (p.Ala1904Val) rs1473162721
NM_004415.4(DSP):c.5718C>G (p.Ile1906Met) rs2113698577
NM_004415.4(DSP):c.5736G>T (p.Arg1912Ser) rs371873840
NM_004415.4(DSP):c.5743C>T (p.Arg1915Cys) rs1461028383
NM_004415.4(DSP):c.5807A>G (p.Gln1936Arg)
NM_004415.4(DSP):c.5807A>T (p.Gln1936Leu) rs1759498186
NM_004415.4(DSP):c.5816T>C (p.Ile1939Thr) rs2533937721
NM_004415.4(DSP):c.5819A>T (p.Asp1940Val) rs1430290356
NM_004415.4(DSP):c.5828G>T (p.Arg1943Ile) rs1759499845
NM_004415.4(DSP):c.5851C>G (p.Arg1951Gly) rs869025395
NM_004415.4(DSP):c.5866G>A (p.Glu1956Lys) rs1759501739
NM_004415.4(DSP):c.5894A>G (p.Lys1965Arg) rs1561701637
NM_004415.4(DSP):c.5903T>G (p.Phe1968Cys) rs1391409186
NM_004415.4(DSP):c.590A>T (p.Gln197Leu) rs2113660072
NM_004415.4(DSP):c.5918A>G (p.Lys1973Arg) rs376397314
NM_004415.4(DSP):c.5918A>T (p.Lys1973Met)
NM_004415.4(DSP):c.5924T>C (p.Val1975Ala) rs1759505693
NM_004415.4(DSP):c.5934G>C (p.Met1978Ile) rs1759506508
NM_004415.4(DSP):c.5942A>G (p.Tyr1981Cys) rs1085307622
NM_004415.4(DSP):c.5958C>G (p.Ile1986Met) rs577625038
NM_004415.4(DSP):c.5969C>T (p.Thr1990Ile) rs1759508708
NM_004415.4(DSP):c.597+2_597+5dup rs765558005
NM_004415.4(DSP):c.597G>A (p.Arg199=)
NM_004415.4(DSP):c.5999C>T (p.Ser2000Leu)
NM_004415.4(DSP):c.6011T>C (p.Val2004Ala) rs1759511205
NM_004415.4(DSP):c.6017C>A (p.Ser2006Tyr) rs1759511635
NM_004415.4(DSP):c.6029C>T (p.Pro2010Leu) rs2113699350
NM_004415.4(DSP):c.6038G>C (p.Arg2013Pro) rs557263443
NM_004415.4(DSP):c.6052A>G (p.Ile2018Val) rs2113699415
NM_004415.4(DSP):c.6053T>C (p.Ile2018Thr) rs1561701890
NM_004415.4(DSP):c.6055G>A (p.Ala2019Thr) rs771974957
NM_004415.4(DSP):c.6055G>T (p.Ala2019Ser) rs771974957
NM_004415.4(DSP):c.6073C>T (p.Pro2025Ser) rs1759514545
NM_004415.4(DSP):c.6085T>C (p.Tyr2029His) rs765794044
NM_004415.4(DSP):c.6104A>C (p.Lys2035Thr) rs2533939335
NM_004415.4(DSP):c.6118A>G (p.Ile2040Val) rs2533939396
NM_004415.4(DSP):c.6134C>G (p.Thr2045Arg) rs1759516546
NM_004415.4(DSP):c.6154_6162del (p.Gln2052_Ala2054del) rs1759517350
NM_004415.4(DSP):c.6160G>A (p.Ala2054Thr) rs1759517531
NM_004415.4(DSP):c.6161C>T (p.Ala2054Val) rs1759517621
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.6176T>A (p.Ile2059Asn) rs1263298339
NM_004415.4(DSP):c.6176T>C (p.Ile2059Thr) rs1263298339
NM_004415.4(DSP):c.6181C>A (p.Pro2061Thr)
NM_004415.4(DSP):c.6181C>G (p.Pro2061Ala) rs1561702055
NM_004415.4(DSP):c.6187C>T (p.Arg2063Trp) rs374090050
NM_004415.4(DSP):c.6188G>T (p.Arg2063Leu) rs142927608
NM_004415.4(DSP):c.6200T>G (p.Leu2067Arg) rs2113699736
NM_004415.4(DSP):c.6214G>A (p.Ala2072Thr) rs1759520180
NM_004415.4(DSP):c.6223C>G (p.Arg2075Gly) rs751050235
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.6290A>C (p.Asp2097Ala) rs781279370
NM_004415.4(DSP):c.6295_6296delinsAT (p.Pro2099Ile) rs587782942
NM_004415.4(DSP):c.630C>A (p.Asp210Glu) rs2113665093
NM_004415.4(DSP):c.6343T>G (p.Leu2115Val) rs1484456213
NM_004415.4(DSP):c.6347T>C (p.Ile2116Thr) rs730880087
NM_004415.4(DSP):c.6352A>G (p.Arg2118Gly) rs1311515571
NM_004415.4(DSP):c.6361G>A (p.Gly2121Arg) rs368227724
NM_004415.4(DSP):c.6380C>T (p.Ala2127Val) rs2533940799
NM_004415.4(DSP):c.6386T>G (p.Ile2129Ser) rs1401697610
NM_004415.4(DSP):c.6398G>T (p.Gly2133Val)
NM_004415.4(DSP):c.6443_6446delinsG (p.Ala2148_Leu2149delinsGly)
NM_004415.4(DSP):c.6448G>A (p.Ala2150Thr) rs1759533337
NM_004415.4(DSP):c.6449C>G (p.Ala2150Gly) rs1487798502
NM_004415.4(DSP):c.6452G>T (p.Arg2151Leu) rs367759510
NM_004415.4(DSP):c.6467G>A (p.Arg2156Lys)
NM_004415.4(DSP):c.6474G>C (p.Leu2158Phe) rs1759534911
NM_004415.4(DSP):c.647A>C (p.Gln216Pro) rs1758736357
NM_004415.4(DSP):c.6482C>T (p.Ser2161Phe) rs1286181726
NM_004415.4(DSP):c.6494C>T (p.Pro2165Leu) rs1759535966
NM_004415.4(DSP):c.6520G>A (p.Asp2174Asn) rs2533941835
NM_004415.4(DSP):c.6547T>C (p.Tyr2183His) rs763549172
NM_004415.4(DSP):c.6586A>G (p.Thr2196Ala) rs2113700741
NM_004415.4(DSP):c.6622A>T (p.Met2208Leu) rs2533942245
NM_004415.4(DSP):c.6626C>G (p.Ser2209Cys) rs1759543444
NM_004415.4(DSP):c.6653C>T (p.Thr2218Ile) rs2533942318
NM_004415.4(DSP):c.665G>C (p.Arg222Pro) rs377749481
NM_004415.4(DSP):c.6670G>C (p.Asp2224His)
NM_004415.4(DSP):c.667G>T (p.Gly223Cys) rs200806163
NM_004415.4(DSP):c.6740G>A (p.Gly2247Asp) rs2533942611
NM_004415.4(DSP):c.6744G>C (p.Glu2248Asp) rs1581822997
NM_004415.4(DSP):c.6829G>A (p.Ala2277Thr) rs1759548533
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.685G>A (p.Gly229Ser) rs376185352
NM_004415.4(DSP):c.685G>T (p.Gly229Cys) rs376185352
NM_004415.4(DSP):c.6886G>A (p.Ala2296Thr) rs1759550384
NM_004415.4(DSP):c.6892A>G (p.Thr2298Ala) rs1759550667
NM_004415.4(DSP):c.6901A>G (p.Ile2301Val) rs2533943099
NM_004415.4(DSP):c.6967A>C (p.Ile2323Leu) rs1759554116
NM_004415.4(DSP):c.6988C>G (p.Leu2330Val) rs1759554701
NM_004415.4(DSP):c.6992C>G (p.Ser2331Cys) rs2533943442
NM_004415.4(DSP):c.6997G>A (p.Glu2333Lys) rs1490807572
NM_004415.4(DSP):c.7004C>T (p.Ala2335Val) rs2533943481
NM_004415.4(DSP):c.7016A>G (p.Tyr2339Cys) rs1759555427
NM_004415.4(DSP):c.7031C>G (p.Thr2344Arg) rs746413668
NM_004415.4(DSP):c.7031C>T (p.Thr2344Ile) rs746413668
NM_004415.4(DSP):c.7046C>G (p.Ser2349Cys) rs769930190
NM_004415.4(DSP):c.7154G>A (p.Arg2385His) rs1396768987
NM_004415.4(DSP):c.716A>C (p.Lys239Thr) rs940238260
NM_004415.4(DSP):c.7179G>T (p.Lys2393Asn) rs1759561425
NM_004415.4(DSP):c.7194T>A (p.Asn2398Lys) rs2113701813
NM_004415.4(DSP):c.7213C>T (p.Leu2405Phe) rs774401264
NM_004415.4(DSP):c.7229A>G (p.Asp2410Gly) rs1759563429
NM_004415.4(DSP):c.7270C>T (p.Leu2424Phe) rs2533944845
NM_004415.4(DSP):c.7295G>T (p.Arg2432Ile)
NM_004415.4(DSP):c.7303A>G (p.Lys2435Glu) rs2533945021
NM_004415.4(DSP):c.7305G>C (p.Lys2435Asn) rs1554108998
NM_004415.4(DSP):c.7312G>A (p.Glu2438Lys) rs1759566407
NM_004415.4(DSP):c.7312G>C (p.Glu2438Gln) rs1759566407
NM_004415.4(DSP):c.7327C>T (p.Leu2443Phe) rs864309585
NM_004415.4(DSP):c.732G>C (p.Glu244Asp) rs2113666864
NM_004415.4(DSP):c.7341A>C (p.Lys2447Asn) rs755448403
NM_004415.4(DSP):c.7342G>C (p.Glu2448Gln) rs2113702127
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.7350G>C (p.Lys2450Asn) rs1561703628
NM_004415.4(DSP):c.7355A>C (p.Gln2452Pro) rs1759567864
NM_004415.4(DSP):c.7363A>C (p.Thr2455Pro) rs2113702180
NM_004415.4(DSP):c.7370A>C (p.Gln2457Pro) rs1206306343
NM_004415.4(DSP):c.7417A>G (p.Thr2473Ala)
NM_004415.4(DSP):c.7433C>A (p.Ser2478Tyr) rs1759570987
NM_004415.4(DSP):c.743T>C (p.Ile248Thr) rs1455602530
NM_004415.4(DSP):c.7477T>G (p.Phe2493Val) rs138798656
NM_004415.4(DSP):c.7489T>A (p.Cys2497Ser) rs1759572862
NM_004415.4(DSP):c.7501T>C (p.Cys2501Arg) rs776405018
NM_004415.4(DSP):c.7503_7508del (p.Cys2501_Glu2502del) rs1473818298
NM_004415.4(DSP):c.7535A>G (p.Asp2512Gly) rs1759575116
NM_004415.4(DSP):c.7546A>G (p.Arg2516Gly) rs1304859870
NM_004415.4(DSP):c.7547G>C (p.Arg2516Thr) rs2533946451
NM_004415.4(DSP):c.7555C>A (p.Leu2519Met) rs779145021
NM_004415.4(DSP):c.7616T>C (p.Val2539Ala) rs1759583769
NM_004415.4(DSP):c.7643G>A (p.Arg2548Gln) rs377565339
NM_004415.4(DSP):c.7643G>C (p.Arg2548Pro) rs377565339
NM_004415.4(DSP):c.7646C>T (p.Ser2549Phe) rs1759585768
NM_004415.4(DSP):c.7667A>T (p.Gln2556Leu) rs760434412
NM_004415.4(DSP):c.7685_7687del (p.Ser2562del) rs762495630
NM_004415.4(DSP):c.7736ATG[1] (p.Asp2580del) rs1759590820
NM_004415.4(DSP):c.7792A>T (p.Ser2598Cys) rs1320923132
NM_004415.4(DSP):c.7823C>T (p.Ser2608Phe) rs777066674
NM_004415.4(DSP):c.7833_7841del (p.Asp2611_Leu2613del) rs2113703405
NM_004415.4(DSP):c.7837C>G (p.Leu2613Val) rs1286275087
NM_004415.4(DSP):c.7838T>C (p.Leu2613Pro) rs1759599736
NM_004415.4(DSP):c.7871A>G (p.Asp2624Gly) rs1759602460
NM_004415.4(DSP):c.7891A>G (p.Ile2631Val) rs1759604036
NM_004415.4(DSP):c.7900A>G (p.Thr2634Ala) rs373200747
NM_004415.4(DSP):c.7931G>C (p.Ser2644Thr) rs1759607288
NM_004415.4(DSP):c.7940G>T (p.Gly2647Val) rs771407520
NM_004415.4(DSP):c.7948C>A (p.Leu2650Ile)
NM_004415.4(DSP):c.7964C>A (p.Ala2655Asp) rs193922671
NM_004415.4(DSP):c.8001G>C (p.Gln2667His) rs758047603
NM_004415.4(DSP):c.8005C>T (p.Leu2669=) rs2533949060
NM_004415.4(DSP):c.8018A>T (p.Asp2673Val) rs2533949105
NM_004415.4(DSP):c.8031G>T (p.Gln2677His) rs1759614272
NM_004415.4(DSP):c.8071G>C (p.Ala2691Pro) rs1006955897
NM_004415.4(DSP):c.8085C>A (p.Phe2695Leu) rs1759617585
NM_004415.4(DSP):c.8095G>A (p.Glu2699Lys) rs1377309647
NM_004415.4(DSP):c.8099G>A (p.Gly2700Asp) rs1019638361
NM_004415.4(DSP):c.8128G>T (p.Ala2710Ser) rs1561705003
NM_004415.4(DSP):c.8149T>C (p.Trp2717Arg) rs1554109176
NM_004415.4(DSP):c.8151G>C (p.Trp2717Cys) rs1345140217
NM_004415.4(DSP):c.8156C>A (p.Pro2719Gln) rs1759622362
NM_004415.4(DSP):c.8174G>A (p.Arg2725His) rs776674939
NM_004415.4(DSP):c.8198C>T (p.Thr2733Met) rs1561705229
NM_004415.4(DSP):c.8213A>G (p.Asp2738Gly) rs2113704486
NM_004415.4(DSP):c.8215C>T (p.Pro2739Ser) rs1305246281
NM_004415.4(DSP):c.8227G>A (p.Gly2743Arg) rs1759627772
NM_004415.4(DSP):c.8230A>G (p.Arg2744Gly) rs1198357388
NM_004415.4(DSP):c.8240C>T (p.Thr2747Ile) rs1581826021
NM_004415.4(DSP):c.8249C>G (p.Ala2750Gly) rs2533950497
NM_004415.4(DSP):c.8276G>A (p.Arg2759His) rs936541705
NM_004415.4(DSP):c.8342T>C (p.Leu2781Ser) rs906516867
NM_004415.4(DSP):c.8343A>T (p.Leu2781Phe) rs755270593
NM_004415.4(DSP):c.8350T>C (p.Ser2784Pro) rs1240301188
NM_004415.4(DSP):c.8360A>T (p.Asp2787Val) rs1759637183
NM_004415.4(DSP):c.8365A>G (p.Ile2789Val) rs397516965
NM_004415.4(DSP):c.8371C>T (p.Arg2791Cys) rs867430601
NM_004415.4(DSP):c.8379G>A (p.Met2793Ile) rs2533951443
NM_004415.4(DSP):c.8387A>T (p.Asp2796Val) rs888716643
NM_004415.4(DSP):c.839C>G (p.Ser280Cys) rs1758829462
NM_004415.4(DSP):c.8416G>A (p.Ala2806Thr) rs1005621727
NM_004415.4(DSP):c.8422G>A (p.Val2808Met) rs755395389
NM_004415.4(DSP):c.8429C>T (p.Ser2810Phe) rs1759640944
NM_004415.4(DSP):c.8441C>T (p.Pro2814Leu) rs756310918
NM_004415.4(DSP):c.8455A>G (p.Met2819Val) rs138329459
NM_004415.4(DSP):c.8464G>C (p.Ala2822Pro) rs1361652898
NM_004415.4(DSP):c.8472_8495del (p.2827SGSR[3]) rs1267022420
NM_004415.4(DSP):c.8482G>T (p.Gly2828Cys) rs369682599
NM_004415.4(DSP):c.8488C>A (p.Arg2830Ser) rs1354218745
NM_004415.4(DSP):c.8493_8504dup (p.2827_2830SGSR[6]) rs748194022
NM_004415.4(DSP):c.8495G>C (p.Gly2832Ala) rs397516970
NM_004415.4(DSP):c.8496ATCTCGCTCCGG[3] (p.2827SGSR[6]) rs397516971
NM_004415.4(DSP):c.8498_8499insCCGCTCCGGATC (p.Arg2846_Arg2847insSerGlySerArg) rs773419695
NM_004415.4(DSP):c.8501G>A (p.Arg2834His) rs121912999
NM_004415.4(DSP):c.8507G>C (p.Gly2836Ala) rs764232504
NM_004415.4(DSP):c.8509T>A (p.Ser2837Thr) rs1759649093
NM_004415.4(DSP):c.850A>G (p.Met284Val) rs747040221
NM_004415.4(DSP):c.8513G>A (p.Arg2838His) rs930055191
NM_004415.4(DSP):c.8516C>G (p.Ser2839Cys) rs750438076
NM_004415.4(DSP):c.8519G>A (p.Gly2840Glu) rs1312581264
NM_004415.4(DSP):c.8525G>T (p.Arg2842Leu) rs1581827020
NM_004415.4(DSP):c.8531G>T (p.Gly2844Val) rs374137476
NM_004415.4(DSP):c.8537G>A (p.Arg2846Gln) rs780766289
NM_004415.4(DSP):c.8558C>G (p.Thr2853Arg)
NM_004415.4(DSP):c.8558C>T (p.Thr2853Ile) rs2533953068
NM_004415.4(DSP):c.8577_8588del (p.2858YS[1]) rs2113705755
NM_004415.4(DSP):c.8611C>T (p.His2871Tyr) rs2533953429
NM_004415.4(DSP):c.89T>C (p.Val30Ala) rs1757994526
NM_004415.4(DSP):c.913A>G (p.Ile305Val) rs17604693
NM_004415.4(DSP):c.932C>A (p.Ala311Asp)
NM_004415.4(DSP):c.932C>T (p.Ala311Val)
NM_004415.4(DSP):c.941T>C (p.Ile314Thr) rs2113670908
NM_004415.4(DSP):c.969_974del (p.322KE[1]) rs2533876222
NM_004415.4(DSP):c.984G>C (p.Lys328Asn) rs2113671044
NM_004415.4(DSP):c.992A>G (p.Gln331Arg) rs746517026

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